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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.69534754A= | CA1553964489 | OCLN | c.952A= (p.Arg318=) c.790A= (p.Arg264=) c.*128A= (n.*128A=) c.199A= (p.Arg67=) | |
| 5 | g.69534754A>C | CA444855109 | OCLN | c.952A>C (p.Arg318=) c.790A>C (p.Arg264=) c.*128A>C (n.*128A>C) c.199A>C (p.Arg67=) | |
| 5 | g.69534754A>G | CA3294552 | OCLN | c.952A>G (p.Arg318Gly) c.790A>G (p.Arg264Gly) c.*128A>G (n.*128A>G) c.199A>G (p.Arg67Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69534754A>T | CA360066606 | OCLN | c.952A>T (p.Arg318Ter) c.790A>T (p.Arg264Ter) c.*128A>T (n.*128A>T) c.199A>T (p.Arg67Ter) | |
| 5 | g.69534755G>A | CA3294553 | OCLN | c.953G>A (p.Arg318Lys) c.791G>A (p.Arg264Lys) c.*129G>A (n.*129G>A) c.200G>A (p.Arg67Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69534755G>C | CA360066610 | OCLN | c.953G>C (p.Arg318Thr) c.791G>C (p.Arg264Thr) c.*129G>C (n.*129G>C) c.200G>C (p.Arg67Thr) | |
| 5 | g.69534755G= | CA1553964490 | OCLN | c.953G= (p.Arg318=) c.791G= (p.Arg264=) c.*129G= (n.*129G=) c.200G= (p.Arg67=) | |
| 5 | g.69534755G>T | CA360066612 | OCLN | c.953G>T (p.Arg318Ile) c.791G>T (p.Arg264Ile) c.*129G>T (n.*129G>T) c.200G>T (p.Arg67Ile) | |
| 5 | g.69534756A>C | CA360066614 | OCLN | c.954A>C (p.Arg318Ser) c.792A>C (p.Arg264Ser) c.*130A>C (n.*130A>C) c.201A>C (p.Arg67Ser) | |
| 5 | g.69534756A>G | CA444855118 | OCLN | c.954A>G (p.Arg318=) c.792A>G (p.Arg264=) c.*130A>G (n.*130A>G) c.201A>G (p.Arg67=) | |
| 5 | g.69534756A>T | CA360066616 | OCLN | c.954A>T (p.Arg318Ser) c.792A>T (p.Arg264Ser) c.*130A>T (n.*130A>T) c.201A>T (p.Arg67Ser) | |
| 5 | g.69534757G>A | CA360066618 | OCLN | c.955G>A (p.Val319Ile) c.793G>A (p.Val265Ile) c.*131G>A (n.*131G>A) c.202G>A (p.Val68Ile) | |
| 5 | g.69534757G>C | CA360066620 | OCLN | c.955G>C (p.Val319Leu) c.793G>C (p.Val265Leu) c.*131G>C (n.*131G>C) c.202G>C (p.Val68Leu) | gnomAD v4 |
| 5 | g.69534757G>T | CA360066622 | OCLN | c.955G>T (p.Val319Phe) c.793G>T (p.Val265Phe) c.*131G>T (n.*131G>T) c.202G>T (p.Val68Phe) | |
| 5 | g.69534758T>A | CA3294554 | OCLN | c.956T>A (p.Val319Asp) c.794T>A (p.Val265Asp) c.*132T>A (n.*132T>A) c.203T>A (p.Val68Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69534758T>C | CA360066626 | OCLN | c.956T>C (p.Val319Ala) c.794T>C (p.Val265Ala) c.*132T>C (n.*132T>C) c.203T>C (p.Val68Ala) | |
| 5 | g.69534758T>G | CA360066624 | OCLN | c.956T>G (p.Val319Gly) c.794T>G (p.Val265Gly) c.*132T>G (n.*132T>G) c.203T>G (p.Val68Gly) | |
| 5 | g.69534758T= | CA1553964491 | OCLN | c.956T= (p.Val319=) c.794T= (p.Val265=) c.*132T= (n.*132T=) c.203T= (p.Val68=) | |
| 5 | g.69534759T>A | CA444855131 | OCLN | c.957T>A (p.Val319=) c.795T>A (p.Val265=) c.*133T>A (n.*133T>A) c.204T>A (p.Val68=) | |
| 5 | g.69534759T>C | CA444855134 | OCLN | c.957T>C (p.Val319=) c.795T>C (p.Val265=) c.*133T>C (n.*133T>C) c.204T>C (p.Val68=) | |
| 5 | g.69534759T>G | CA444855137 | OCLN | c.957T>G (p.Val319=) c.795T>G (p.Val265=) c.*133T>G (n.*133T>G) c.204T>G (p.Val68=) | |
| 5 | g.69534760G>A | CA360066633 | OCLN | c.958G>A (p.Asp320Asn) c.796G>A (p.Asp266Asn) c.*134G>A (n.*134G>A) c.205G>A (p.Asp69Asn) | gnomAD v4 |
| 5 | g.69534760G>C | CA360066629 | OCLN | c.958G>C (p.Asp320His) c.796G>C (p.Asp266His) c.*134G>C (n.*134G>C) c.205G>C (p.Asp69His) | gnomAD v4 |
| 5 | g.69534760G>T | CA360066631 | OCLN | c.958G>T (p.Asp320Tyr) c.796G>T (p.Asp266Tyr) c.*134G>T (n.*134G>T) c.205G>T (p.Asp69Tyr) | gnomAD v4 |
| 5 | g.69534761A>C | CA360066634 | OCLN | c.959A>C (p.Asp320Ala) c.797A>C (p.Asp266Ala) c.*135A>C (n.*135A>C) c.206A>C (p.Asp69Ala) | |
| 5 | g.69534761A>G | CA360066636 | OCLN | c.959A>G (p.Asp320Gly) c.797A>G (p.Asp266Gly) c.*135A>G (n.*135A>G) c.206A>G (p.Asp69Gly) | |
| 5 | g.69534761A>T | CA360066638 | OCLN | c.959A>T (p.Asp320Val) c.797A>T (p.Asp266Val) c.*135A>T (n.*135A>T) c.206A>T (p.Asp69Val) | |
| 5 | g.69534762C>A | CA360066641 | OCLN | c.960C>A (p.Asp320Glu) c.798C>A (p.Asp266Glu) c.*136C>A (n.*136C>A) c.207C>A (p.Asp69Glu) | gnomAD v4 |
| 5 | g.69534762C= | CA1553964492 | OCLN | c.960C= (p.Asp320=) c.798C= (p.Asp266=) c.*136C= (n.*136C=) c.207C= (p.Asp69=) | |
| 5 | g.69534762C>G | CA360066643 | OCLN | c.960C>G (p.Asp320Glu) c.798C>G (p.Asp266Glu) c.*136C>G (n.*136C>G) c.207C>G (p.Asp69Glu) | |
| 5 | g.69534762C>T | CA444855146 | OCLN | c.960C>T (p.Asp320=) c.798C>T (p.Asp266=) c.*136C>T (n.*136C>T) c.207C>T (p.Asp69=) | dbSNP gnomAD v4 |
| 5 | g.69534763A= | CA1553964493 | OCLN | c.961A= (p.Ser321=) c.799A= (p.Ser267=) c.*137A= (n.*137A=) c.208A= (p.Ser70=) | |
| 5 | g.69534763A>C | CA360066649 | OCLN | c.961A>C (p.Ser321Arg) c.799A>C (p.Ser267Arg) c.*137A>C (n.*137A>C) c.208A>C (p.Ser70Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69534763A>G | CA360066645 | OCLN | c.961A>G (p.Ser321Gly) c.799A>G (p.Ser267Gly) c.*137A>G (n.*137A>G) c.208A>G (p.Ser70Gly) | gnomAD v4 |
| 5 | g.69534763A>T | CA360066647 | OCLN | c.961A>T (p.Ser321Cys) c.799A>T (p.Ser267Cys) c.*137A>T (n.*137A>T) c.208A>T (p.Ser70Cys) | |
| 5 | g.69534764G>A | CA360066652 | OCLN | c.962G>A (p.Ser321Asn) c.800G>A (p.Ser267Asn) c.*138G>A (n.*138G>A) c.209G>A (p.Ser70Asn) | |
| 5 | g.69534764G>C | CA360066653 | OCLN | c.962G>C (p.Ser321Thr) c.800G>C (p.Ser267Thr) c.*138G>C (n.*138G>C) c.209G>C (p.Ser70Thr) | |
| 5 | g.69534764G>T | CA360066654 | OCLN | c.962G>T (p.Ser321Ile) c.800G>T (p.Ser267Ile) c.*138G>T (n.*138G>T) c.209G>T (p.Ser70Ile) | |
| 5 | g.69534765T>A | CA360066657 | OCLN | c.963T>A (p.Ser321Arg) c.801T>A (p.Ser267Arg) c.*139T>A (n.*139T>A) c.210T>A (p.Ser70Arg) | |
| 5 | g.69534765T>C | CA444855155 | OCLN | c.963T>C (p.Ser321=) c.801T>C (p.Ser267=) c.*139T>C (n.*139T>C) c.210T>C (p.Ser70=) | |
| 5 | g.69534765T>G | CA360066659 | OCLN | c.963T>G (p.Ser321Arg) c.801T>G (p.Ser267Arg) c.*139T>G (n.*139T>G) c.210T>G (p.Ser70Arg) | |
| 5 | g.69534766C>A | CA360066661 | OCLN | c.964C>A (p.Pro322Thr) c.802C>A (p.Pro268Thr) c.*140C>A (n.*140C>A) c.211C>A (p.Pro71Thr) | gnomAD v4 |
| 5 | g.69534766C>G | CA360066664 | OCLN | c.964C>G (p.Pro322Ala) c.802C>G (p.Pro268Ala) c.*140C>G (n.*140C>G) c.211C>G (p.Pro71Ala) | |
| 5 | g.69534766C>T | CA360066663 | OCLN | c.964C>T (p.Pro322Ser) c.802C>T (p.Pro268Ser) c.*140C>T (n.*140C>T) c.211C>T (p.Pro71Ser) | |
| 5 | g.69534767C>A | CA360066665 | OCLN | c.965C>A (p.Pro322His) c.803C>A (p.Pro268His) c.*141C>A (n.*141C>A) c.212C>A (p.Pro71His) | |
| 5 | g.69534767C= | CA1553964494 | OCLN | c.965C= (p.Pro322=) c.803C= (p.Pro268=) c.*141C= (n.*141C=) c.212C= (p.Pro71=) | |
| 5 | g.69534767C>G | CA360066667 | OCLN | c.965C>G (p.Pro322Arg) c.803C>G (p.Pro268Arg) c.*141C>G (n.*141C>G) c.212C>G (p.Pro71Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69534767C>T | CA360066668 | OCLN | c.965C>T (p.Pro322Leu) c.803C>T (p.Pro268Leu) c.*141C>T (n.*141C>T) c.212C>T (p.Pro71Leu) | |
| 5 | g.69534768C>A | CA444855165 | OCLN | c.966C>A (p.Pro322=) c.804C>A (p.Pro268=) c.*142C>A (n.*142C>A) c.213C>A (p.Pro71=) | |
| 5 | g.69534768C>G | CA444855167 | OCLN | c.966C>G (p.Pro322=) c.804C>G (p.Pro268=) c.*142C>G (n.*142C>G) c.213C>G (p.Pro71=) | gnomAD v4 |
| 5 | g.69534768C>T | CA444855169 | OCLN | c.966C>T (p.Pro322=) c.804C>T (p.Pro268=) c.*142C>T (n.*142C>T) c.213C>T (p.Pro71=) | |
| 5 | g.69534769A= | CA1553964495 | OCLN | c.967A= (p.Met323=) c.805A= (p.Met269=) c.*143A= (n.*143A=) c.214A= (p.Met72=) | |
| 5 | g.69534769A>C | CA360066671 | OCLN | c.967A>C (p.Met323Leu) c.805A>C (p.Met269Leu) c.*143A>C (n.*143A>C) c.214A>C (p.Met72Leu) | |
| 5 | g.69534769A>G | CA3294555 | OCLN | c.967A>G (p.Met323Val) c.805A>G (p.Met269Val) c.*143A>G (n.*143A>G) c.214A>G (p.Met72Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69534769A>T | CA360066673 | OCLN | c.967A>T (p.Met323Leu) c.805A>T (p.Met269Leu) c.*143A>T (n.*143A>T) c.214A>T (p.Met72Leu) | |
| 5 | g.69534770del | CA2766867434 | OCLN | c.968del (p.Met323ArgfsTer9) c.806del (p.Met269ArgfsTer9) c.*144del (n.*144del) c.215del (p.Met72ArgfsTer9) | |
| 5 | g.69534770T>A | CA360066676 | OCLN | c.968T>A (p.Met323Lys) c.806T>A (p.Met269Lys) c.*144T>A (n.*144T>A) c.215T>A (p.Met72Lys) | |
| 5 | g.69534770T>C | CA360066677 | OCLN | c.968T>C (p.Met323Thr) c.806T>C (p.Met269Thr) c.*144T>C (n.*144T>C) c.215T>C (p.Met72Thr) | gnomAD v4 |
| 5 | g.69534770T>G | CA360066679 | OCLN | c.968T>G (p.Met323Arg) c.806T>G (p.Met269Arg) c.*144T>G (n.*144T>G) c.215T>G (p.Met72Arg) | |
| 5 | g.69534771G>A | CA360066681 | OCLN | c.969G>A (p.Met323Ile) c.807G>A (p.Met269Ile) c.*145G>A (n.*145G>A) c.216G>A (p.Met72Ile) | gnomAD v4 |
| 5 | g.69534771G>C | CA360066682 | OCLN | c.969G>C (p.Met323Ile) c.807G>C (p.Met269Ile) c.*145G>C (n.*145G>C) c.216G>C (p.Met72Ile) | |
| 5 | g.69534771G>T | CA360066684 | OCLN | c.969G>T (p.Met323Ile) c.807G>T (p.Met269Ile) c.*145G>T (n.*145G>T) c.216G>T (p.Met72Ile) | |
| 5 | g.69534772G>A | CA360066686 | OCLN | c.970G>A (p.Ala324Thr) c.808G>A (p.Ala270Thr) c.*146G>A (n.*146G>A) c.217G>A (p.Ala73Thr) | |
| 5 | g.69534772G>C | CA360066690 | OCLN | c.970G>C (p.Ala324Pro) c.808G>C (p.Ala270Pro) c.*146G>C (n.*146G>C) c.217G>C (p.Ala73Pro) | |
| 5 | g.69534772G>T | CA360066688 | OCLN | c.970G>T (p.Ala324Ser) c.808G>T (p.Ala270Ser) c.*146G>T (n.*146G>T) c.217G>T (p.Ala73Ser) | |
| 5 | g.69534773C>A | CA360066692 | OCLN | c.971C>A (p.Ala324Glu) c.809C>A (p.Ala270Glu) c.*147C>A (n.*147C>A) c.218C>A (p.Ala73Glu) | gnomAD v4 |
| 5 | g.69534773C>G | CA360066693 | OCLN | c.971C>G (p.Ala324Gly) c.809C>G (p.Ala270Gly) c.*147C>G (n.*147C>G) c.218C>G (p.Ala73Gly) | |
| 5 | g.69534773C>T | CA360066694 | OCLN | c.971C>T (p.Ala324Val) c.809C>T (p.Ala270Val) c.*147C>T (n.*147C>T) c.218C>T (p.Ala73Val) | gnomAD v4 |
| 5 | g.69534774A= | CA1553964496 | OCLN | c.972A= (p.Ala324=) c.810A= (p.Ala270=) c.*148A= (n.*148A=) c.219A= (p.Ala73=) | |
| 5 | g.69534774A>C | CA444855192 | OCLN | c.972A>C (p.Ala324=) c.810A>C (p.Ala270=) c.*148A>C (n.*148A>C) c.219A>C (p.Ala73=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69534774A>G | CA444855190 | OCLN | c.972A>G (p.Ala324=) c.810A>G (p.Ala270=) c.*148A>G (n.*148A>G) c.219A>G (p.Ala73=) | dbSNP gnomAD v4 |
| 5 | g.69534774A>T | CA3294556 | OCLN | c.972A>T (p.Ala324=) c.810A>T (p.Ala270=) c.*148A>T (n.*148A>T) c.219A>T (p.Ala73=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69534775T>A | CA360066698 | OCLN | c.973T>A (p.Tyr325Asn) c.811T>A (p.Tyr271Asn) c.*149T>A (n.*149T>A) c.220T>A (p.Tyr74Asn) | |
| 5 | g.69534775T>C | CA360066700 | OCLN | c.973T>C (p.Tyr325His) c.811T>C (p.Tyr271His) c.*149T>C (n.*149T>C) c.220T>C (p.Tyr74His) | |
| 5 | g.69534775T>G | CA360066702 | OCLN | c.973T>G (p.Tyr325Asp) c.811T>G (p.Tyr271Asp) c.*149T>G (n.*149T>G) c.220T>G (p.Tyr74Asp) | |
| 5 | g.69534776A= | CA1553964497 | OCLN | c.974A= (p.Tyr325=) c.812A= (p.Tyr271=) c.*150A= (n.*150A=) c.221A= (p.Tyr74=) | |
| 5 | g.69534776A>C | CA360066704 | OCLN | c.974A>C (p.Tyr325Ser) c.812A>C (p.Tyr271Ser) c.*150A>C (n.*150A>C) c.221A>C (p.Tyr74Ser) | |
| 5 | g.69534776A>G | CA360066705 | OCLN | c.974A>G (p.Tyr325Cys) c.812A>G (p.Tyr271Cys) c.*150A>G (n.*150A>G) c.221A>G (p.Tyr74Cys) | dbSNP gnomAD v2 |
| 5 | g.69534776A>T | CA360066707 | OCLN | c.974A>T (p.Tyr325Phe) c.812A>T (p.Tyr271Phe) c.*150A>T (n.*150A>T) c.221A>T (p.Tyr74Phe) | |
| 5 | g.69534777C>A | CA360066709 | OCLN | c.975C>A (p.Tyr325Ter) c.813C>A (p.Tyr271Ter) c.*151C>A (n.*151C>A) c.222C>A (p.Tyr74Ter) | gnomAD v4 |
| 5 | g.69534777C>G | CA360066711 | OCLN | c.975C>G (p.Tyr325Ter) c.813C>G (p.Tyr271Ter) c.*151C>G (n.*151C>G) c.222C>G (p.Tyr74Ter) | |
| 5 | g.69534777C>T | CA444855202 | OCLN | c.975C>T (p.Tyr325=) c.813C>T (p.Tyr271=) c.*151C>T (n.*151C>T) c.222C>T (p.Tyr74=) | |
| 5 | g.69534778T>A | CA360066717 | OCLN | c.976T>A (p.Ser326Thr) c.814T>A (p.Ser272Thr) c.*152T>A (n.*152T>A) c.223T>A (p.Ser75Thr) | |
| 5 | g.69534778T>C | CA360066715 | OCLN | c.976T>C (p.Ser326Pro) c.814T>C (p.Ser272Pro) c.*152T>C (n.*152T>C) c.223T>C (p.Ser75Pro) | |
| 5 | g.69534778T>G | CA360066713 | OCLN | c.976T>G (p.Ser326Ala) c.814T>G (p.Ser272Ala) c.*152T>G (n.*152T>G) c.223T>G (p.Ser75Ala) | gnomAD v4 |
| 5 | g.69534779C>A | CA360066719 | OCLN | c.977C>A (p.Ser326Tyr) c.815C>A (p.Ser272Tyr) c.*153C>A (n.*153C>A) c.224C>A (p.Ser75Tyr) | |
| 5 | g.69534779C= | CA1553964498 | OCLN | c.977C= (p.Ser326=) c.815C= (p.Ser272=) c.*153C= (n.*153C=) c.224C= (p.Ser75=) | |
| 5 | g.69534779C>G | CA360066721 | OCLN | c.977C>G (p.Ser326Cys) c.815C>G (p.Ser272Cys) c.*153C>G (n.*153C>G) c.224C>G (p.Ser75Cys) | |
| 5 | g.69534779C>T | CA360066722 | OCLN | c.977C>T (p.Ser326Phe) c.815C>T (p.Ser272Phe) c.*153C>T (n.*153C>T) c.224C>T (p.Ser75Phe) | dbSNP gnomAD v4 |
| 5 | g.69534780T>A | CA444855212 | OCLN | c.978T>A (p.Ser326=) c.816T>A (p.Ser272=) c.*154T>A (n.*154T>A) c.225T>A (p.Ser75=) | |
| 5 | g.69534780T>C | CA444855213 | OCLN | c.978T>C (p.Ser326=) c.816T>C (p.Ser272=) c.*154T>C (n.*154T>C) c.225T>C (p.Ser75=) | gnomAD v4 |
| 5 | g.69534780T>G | CA444855214 | OCLN | c.978T>G (p.Ser326=) c.816T>G (p.Ser272=) c.*154T>G (n.*154T>G) c.225T>G (p.Ser75=) | |
| 5 | g.69534781T>A | CA360066724 | OCLN | c.979T>A (p.Ser327Thr) c.817T>A (p.Ser273Thr) c.*155T>A (n.*155T>A) c.226T>A (p.Ser76Thr) | |
| 5 | g.69534781T>C | CA360066726 | OCLN | c.979T>C (p.Ser327Pro) c.817T>C (p.Ser273Pro) c.*155T>C (n.*155T>C) c.226T>C (p.Ser76Pro) | |
| 5 | g.69534781T>G | CA360066728 | OCLN | c.979T>G (p.Ser327Ala) c.817T>G (p.Ser273Ala) c.*155T>G (n.*155T>G) c.226T>G (p.Ser76Ala) | |
| 5 | g.69534782C>A | CA360066730 | OCLN | c.980C>A (p.Ser327Tyr) c.818C>A (p.Ser273Tyr) c.*156C>A (n.*156C>A) c.227C>A (p.Ser76Tyr) | |
| 5 | g.69534782C= | CA1553964499 | OCLN | c.980C= (p.Ser327=) c.818C= (p.Ser273=) c.*156C= (n.*156C=) c.227C= (p.Ser76=) | |
| 5 | g.69534782C>G | CA360066732 | OCLN | c.980C>G (p.Ser327Cys) c.818C>G (p.Ser273Cys) c.*156C>G (n.*156C>G) c.227C>G (p.Ser76Cys) | |
| 5 | g.69534782C>T | CA3294557 | OCLN | c.980C>T (p.Ser327Phe) c.818C>T (p.Ser273Phe) c.*156C>T (n.*156C>T) c.227C>T (p.Ser76Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69534783del | CA2695204594 | OCLN | c.981del (p.Asn328MetfsTer4) c.819del (p.Asn274MetfsTer4) c.*157del (n.*157del) c.228del (p.Asn77MetfsTer4) | |
| 5 | g.69534783C>A | CA444855224 | OCLN | c.981C>A (p.Ser327=) c.819C>A (p.Ser273=) c.*157C>A (n.*157C>A) c.228C>A (p.Ser76=) | gnomAD v4 |
| 5 | g.69534783C= | CA1553964500 | OCLN | c.981C= (p.Ser327=) c.819C= (p.Ser273=) c.*157C= (n.*157C=) c.228C= (p.Ser76=) | |
| 5 | g.69534783C>G | CA444855225 | OCLN | c.981C>G (p.Ser327=) c.819C>G (p.Ser273=) c.*157C>G (n.*157C>G) c.228C>G (p.Ser76=) | |
| 5 | g.69534783C>T | CA3294558 | OCLN | c.981C>T (p.Ser327=) c.819C>T (p.Ser273=) c.*157C>T (n.*157C>T) c.228C>T (p.Ser76=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69534784A>C | CA360066735 | OCLN | c.982A>C (p.Asn328His) c.820A>C (p.Asn274His) c.*158A>C (n.*158A>C) c.229A>C (p.Asn77His) | |
| 5 | g.69534784A>G | CA360066737 | OCLN | c.982A>G (p.Asn328Asp) c.820A>G (p.Asn274Asp) c.*158A>G (n.*158A>G) c.229A>G (p.Asn77Asp) | |
| 5 | g.69534784A>T | CA360066738 | OCLN | c.982A>T (p.Asn328Tyr) c.820A>T (p.Asn274Tyr) c.*158A>T (n.*158A>T) c.229A>T (p.Asn77Tyr) | |
| 5 | g.69534785A= | CA1553964501 | OCLN | c.983A= (p.Asn328=) c.821A= (p.Asn274=) c.*159A= (n.*159A=) c.230A= (p.Asn77=) | |
| 5 | g.69534785A>C | CA360066743 | OCLN | c.983A>C (p.Asn328Thr) c.821A>C (p.Asn274Thr) c.*159A>C (n.*159A>C) c.230A>C (p.Asn77Thr) | |
| 5 | g.69534785A>G | CA3294559 | OCLN | c.983A>G (p.Asn328Ser) c.821A>G (p.Asn274Ser) c.*159A>G (n.*159A>G) c.230A>G (p.Asn77Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69534785A>T | CA360066741 | OCLN | c.983A>T (p.Asn328Ile) c.821A>T (p.Asn274Ile) c.*159A>T (n.*159A>T) c.230A>T (p.Asn77Ile) | |
| 5 | g.69534786T>A | CA360066746 | OCLN | c.984T>A (p.Asn328Lys) c.822T>A (p.Asn274Lys) c.*160T>A (n.*160T>A) c.231T>A (p.Asn77Lys) | gnomAD v4 |
| 5 | g.69534786T>C | CA444855237 | OCLN | c.984T>C (p.Asn328=) c.822T>C (p.Asn274=) c.*160T>C (n.*160T>C) c.231T>C (p.Asn77=) | |
| 5 | g.69534786T>G | CA360066747 | OCLN | c.984T>G (p.Asn328Lys) c.822T>G (p.Asn274Lys) c.*160T>G (n.*160T>G) c.231T>G (p.Asn77Lys) | |
| 5 | g.69534787G>A | CA360066749 | OCLN | c.985G>A (p.Gly329Ser) c.823G>A (p.Gly275Ser) c.*161G>A (n.*161G>A) c.232G>A (p.Gly78Ser) | |
| 5 | g.69534787G>C | CA360066751 | OCLN | c.985G>C (p.Gly329Arg) c.823G>C (p.Gly275Arg) c.*161G>C (n.*161G>C) c.232G>C (p.Gly78Arg) | |
| 5 | g.69534787G>T | CA360066753 | OCLN | c.985G>T (p.Gly329Cys) c.823G>T (p.Gly275Cys) c.*161G>T (n.*161G>T) c.232G>T (p.Gly78Cys) | gnomAD v4 |
| 5 | g.69534788G>A | CA360066755 | OCLN | c.986G>A (p.Gly329Asp) c.824G>A (p.Gly275Asp) c.*162G>A (n.*162G>A) c.233G>A (p.Gly78Asp) | |
| 5 | g.69534788G>C | CA360066757 | OCLN | c.986G>C (p.Gly329Ala) c.824G>C (p.Gly275Ala) c.*162G>C (n.*162G>C) c.233G>C (p.Gly78Ala) | gnomAD v4 |
| 5 | g.69534788G>T | CA360066759 | OCLN | c.986G>T (p.Gly329Val) c.824G>T (p.Gly275Val) c.*162G>T (n.*162G>T) c.233G>T (p.Gly78Val) | |
| 5 | g.69534789C>A | CA444855249 | OCLN | c.987C>A (p.Gly329=) c.825C>A (p.Gly275=) c.*163C>A (n.*163C>A) c.234C>A (p.Gly78=) | |
| 5 | g.69534789C>G | CA444855250 | OCLN | c.987C>G (p.Gly329=) c.825C>G (p.Gly275=) c.*163C>G (n.*163C>G) c.234C>G (p.Gly78=) | |
| 5 | g.69534789C>T | CA444855252 | OCLN | c.987C>T (p.Gly329=) c.825C>T (p.Gly275=) c.*163C>T (n.*163C>T) c.234C>T (p.Gly78=) | gnomAD v4 |
| 5 | g.69534790A= | CA1553964502 | OCLN | c.988A= (p.Lys330=) c.826A= (p.Lys276=) c.*164A= (n.*164A=) c.235A= (p.Lys79=) | |
| 5 | g.69534790A>C | CA360066761 | OCLN | c.988A>C (p.Lys330Gln) c.826A>C (p.Lys276Gln) c.*164A>C (n.*164A>C) c.235A>C (p.Lys79Gln) | dbSNP |
| 5 | g.69534790A>G | CA360066763 | OCLN | c.988A>G (p.Lys330Glu) c.826A>G (p.Lys276Glu) c.*164A>G (n.*164A>G) c.235A>G (p.Lys79Glu) | |
| 5 | g.69534790A>T | CA360066765 | OCLN | c.988A>T (p.Lys330Ter) c.826A>T (p.Lys276Ter) c.*164A>T (n.*164A>T) c.235A>T (p.Lys79Ter) | |
| 5 | g.69534791A= | CA1553964503 | OCLN | c.989A= (p.Lys330=) c.827A= (p.Lys276=) c.*165A= (n.*165A=) c.236A= (p.Lys79=) | |
| 5 | g.69534791A>C | CA360066767 | OCLN | c.989A>C (p.Lys330Thr) c.827A>C (p.Lys276Thr) c.*165A>C (n.*165A>C) c.236A>C (p.Lys79Thr) | |
| 5 | g.69534791A>G | CA360066768 | OCLN | c.989A>G (p.Lys330Arg) c.827A>G (p.Lys276Arg) c.*165A>G (n.*165A>G) c.236A>G (p.Lys79Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69534791A>T | CA360066770 | OCLN | c.989A>T (p.Lys330Ile) c.827A>T (p.Lys276Ile) c.*165A>T (n.*165A>T) c.236A>T (p.Lys79Ile) | |
| 5 | g.69534792A>C | CA360066774 | OCLN | c.990A>C (p.Lys330Asn) c.828A>C (p.Lys276Asn) c.*166A>C (n.*166A>C) c.237A>C (p.Lys79Asn) | |
| 5 | g.69534792A>G | CA444855262 | OCLN | c.990A>G (p.Lys330=) c.828A>G (p.Lys276=) c.*166A>G (n.*166A>G) c.237A>G (p.Lys79=) | |
| 5 | g.69534792A>T | CA360066772 | OCLN | c.990A>T (p.Lys330Asn) c.828A>T (p.Lys276Asn) c.*166A>T (n.*166A>T) c.237A>T (p.Lys79Asn) | |
| 5 | g.69534793G>A | CA360066776 | OCLN | c.991G>A (p.Val331Met) c.829G>A (p.Val277Met) c.*167G>A (n.*167G>A) c.238G>A (p.Val80Met) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69534793G>C | CA360066777 | OCLN | c.991G>C (p.Val331Leu) c.829G>C (p.Val277Leu) c.*167G>C (n.*167G>C) c.238G>C (p.Val80Leu) | |
| 5 | g.69534793G= | CA1553964504 | OCLN | c.991G= (p.Val331=) c.829G= (p.Val277=) c.*167G= (n.*167G=) c.238G= (p.Val80=) | |
| 5 | g.69534793G>T | CA360066779 | OCLN | c.991G>T (p.Val331Leu) c.829G>T (p.Val277Leu) c.*167G>T (n.*167G>T) c.238G>T (p.Val80Leu) | |
| 5 | g.69534794T>A | CA360066781 | OCLN | c.992T>A (p.Val331Glu) c.830T>A (p.Val277Glu) c.*168T>A (n.*168T>A) c.239T>A (p.Val80Glu) | |
| 5 | g.69534794T>C | CA360066783 | OCLN | c.992T>C (p.Val331Ala) c.830T>C (p.Val277Ala) c.*168T>C (n.*168T>C) c.239T>C (p.Val80Ala) | dbSNP gnomAD v4 |
| 5 | g.69534794T>G | CA360066784 | OCLN | c.992T>G (p.Val331Gly) c.830T>G (p.Val277Gly) c.*168T>G (n.*168T>G) c.239T>G (p.Val80Gly) | dbSNP |
| 5 | g.69534794T= | CA1553964505 | OCLN | c.992T= (p.Val331=) c.830T= (p.Val277=) c.*168T= (n.*168T=) c.239T= (p.Val80=) | |
| 5 | g.69534795G>A | CA444855271 | OCLN | c.993G>A (p.Val331=) c.831G>A (p.Val277=) c.*169G>A (n.*169G>A) c.240G>A (p.Val80=) | gnomAD v3 gnomAD v4 |
| 5 | g.69534795G>C | CA444855273 | OCLN | c.993G>C (p.Val331=) c.831G>C (p.Val277=) c.*169G>C (n.*169G>C) c.240G>C (p.Val80=) | |
| 5 | g.69534795G>T | CA444855275 | OCLN | c.993G>T (p.Val331=) c.831G>T (p.Val277=) c.*169G>T (n.*169G>T) c.240G>T (p.Val80=) | |
| 5 | g.69534796A>C | CA360066790 | OCLN | c.994A>C (p.Asn332His) c.832A>C (p.Asn278His) c.*170A>C (n.*170A>C) c.241A>C (p.Asn81His) | |
| 5 | g.69534796A>G | CA360066787 | OCLN | c.994A>G (p.Asn332Asp) c.832A>G (p.Asn278Asp) c.*170A>G (n.*170A>G) c.241A>G (p.Asn81Asp) | |
| 5 | g.69534796A>T | CA360066789 | OCLN | c.994A>T (p.Asn332Tyr) c.832A>T (p.Asn278Tyr) c.*170A>T (n.*170A>T) c.241A>T (p.Asn81Tyr) | |
| 5 | g.69534797A= | CA1553964506 | OCLN | c.995A= (p.Asn332=) c.833A= (p.Asn278=) c.*171A= (n.*171A=) c.242A= (p.Asn81=) | |
| 5 | g.69534797A>C | CA360066793 | OCLN | c.995A>C (p.Asn332Thr) c.833A>C (p.Asn278Thr) c.*171A>C (n.*171A>C) c.242A>C (p.Asn81Thr) | |
| 5 | g.69534797A>G | CA360066794 | OCLN | c.995A>G (p.Asn332Ser) c.833A>G (p.Asn278Ser) c.*171A>G (n.*171A>G) c.242A>G (p.Asn81Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69534797A>T | CA360066795 | OCLN | c.995A>T (p.Asn332Ile) c.833A>T (p.Asn278Ile) c.*171A>T (n.*171A>T) c.242A>T (p.Asn81Ile) | |
| 5 | g.69534798T>A | CA360066798 | OCLN | c.996T>A (p.Asn332Lys) c.834T>A (p.Asn278Lys) c.*172T>A (n.*172T>A) c.243T>A (p.Asn81Lys) | |
| 5 | g.69534798T>C | CA444855282 | OCLN | c.996T>C (p.Asn332=) c.834T>C (p.Asn278=) c.*172T>C (n.*172T>C) c.243T>C (p.Asn81=) | |
| 5 | g.69534798T>G | CA360066799 | OCLN | c.996T>G (p.Asn332Lys) c.834T>G (p.Asn278Lys) c.*172T>G (n.*172T>G) c.243T>G (p.Asn81Lys) | |
| 5 | g.69534799G>A | CA360066805 | OCLN | c.997G>A (p.Asp333Asn) c.835G>A (p.Asp279Asn) c.*173G>A (n.*173G>A) c.244G>A (p.Asp82Asn) | |
| 5 | g.69534799G>C | CA360066801 | OCLN | c.997G>C (p.Asp333His) c.835G>C (p.Asp279His) c.*173G>C (n.*173G>C) c.244G>C (p.Asp82His) | gnomAD v4 |
| 5 | g.69534799G>T | CA360066803 | OCLN | c.997G>T (p.Asp333Tyr) c.835G>T (p.Asp279Tyr) c.*173G>T (n.*173G>T) c.244G>T (p.Asp82Tyr) | gnomAD v4 |
| 5 | g.69534800A>C | CA360066806 | OCLN | c.998A>C (p.Asp333Ala) c.836A>C (p.Asp279Ala) c.*174A>C (n.*174A>C) c.245A>C (p.Asp82Ala) | |
| 5 | g.69534800A>G | CA360066808 | OCLN | c.998A>G (p.Asp333Gly) c.836A>G (p.Asp279Gly) c.*174A>G (n.*174A>G) c.245A>G (p.Asp82Gly) | |
| 5 | g.69534800A>T | CA360066810 | OCLN | c.998A>T (p.Asp333Val) c.836A>T (p.Asp279Val) c.*174A>T (n.*174A>T) c.245A>T (p.Asp82Val) | |
| 5 | g.69534801C>A | CA360066811 | OCLN | c.999C>A (p.Asp333Glu) c.837C>A (p.Asp279Glu) c.*175C>A (n.*175C>A) c.246C>A (p.Asp82Glu) | gnomAD v4 |
| 5 | g.69534801C= | CA1553964507 | OCLN | c.999C= (p.Asp333=) c.837C= (p.Asp279=) c.*175C= (n.*175C=) c.246C= (p.Asp82=) | |
| 5 | g.69534801C>G | CA360066813 | OCLN | c.999C>G (p.Asp333Glu) c.837C>G (p.Asp279Glu) c.*175C>G (n.*175C>G) c.246C>G (p.Asp82Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69534801C>T | CA444855297 | OCLN | c.999C>T (p.Asp333=) c.837C>T (p.Asp279=) c.*175C>T (n.*175C>T) c.246C>T (p.Asp82=) | |
| 5 | g.69534802A= | CA1553964508 | OCLN | c.1000A= (p.Lys334=) c.838A= (p.Lys280=) c.*176A= (n.*176A=) c.247A= (p.Lys83=) | |
| 5 | g.69534802A>C | CA360066816 | OCLN | c.1000A>C (p.Lys334Gln) c.838A>C (p.Lys280Gln) c.*176A>C (n.*176A>C) c.247A>C (p.Lys83Gln) | |
| 5 | g.69534802A>G | CA360066817 | OCLN | c.1000A>G (p.Lys334Glu) c.838A>G (p.Lys280Glu) c.*176A>G (n.*176A>G) c.247A>G (p.Lys83Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69534802A>T | CA360066819 | OCLN | c.1000A>T (p.Lys334Ter) c.838A>T (p.Lys280Ter) c.*176A>T (n.*176A>T) c.247A>T (p.Lys83Ter) | |
| 5 | g.69534803dup | CA813550238 | OCLN | c.1001dup (p.Arg335AlafsTer9) c.839dup (p.Arg281AlafsTer9) c.*177dup (n.*177dup) c.248dup (p.Arg84AlafsTer9) | dbSNP gnomAD v4 |
| 5 | g.69534803A>C | CA360066821 | OCLN | c.1001A>C (p.Lys334Thr) c.839A>C (p.Lys280Thr) c.*177A>C (n.*177A>C) c.248A>C (p.Lys83Thr) | |
| 5 | g.69534803A>G | CA360066825 | OCLN | c.1001A>G (p.Lys334Arg) c.839A>G (p.Lys280Arg) c.*177A>G (n.*177A>G) c.248A>G (p.Lys83Arg) | gnomAD v4 |
| 5 | g.69534803A>T | CA360066823 | OCLN | c.1001A>T (p.Lys334Met) c.839A>T (p.Lys280Met) c.*177A>T (n.*177A>T) c.248A>T (p.Lys83Met) | |
| 5 | g.69534804G>A | CA444855305 | OCLN | c.1002G>A (p.Lys334=) c.840G>A (p.Lys280=) c.*178G>A (n.*178G>A) c.249G>A (p.Lys83=) | dbSNP gnomAD v4 |
| 5 | g.69534804G>C | CA360066826 | OCLN | c.1002G>C (p.Lys334Asn) c.840G>C (p.Lys280Asn) c.*178G>C (n.*178G>C) c.249G>C (p.Lys83Asn) | |
| 5 | g.69534804G= | CA1553964509 | OCLN | c.1002G= (p.Lys334=) c.840G= (p.Lys280=) c.*178G= (n.*178G=) c.249G= (p.Lys83=) | |
| 5 | g.69534804G>T | CA360066828 | OCLN | c.1002G>T (p.Lys334Asn) c.840G>T (p.Lys280Asn) c.*178G>T (n.*178G>T) c.249G>T (p.Lys83Asn) | gnomAD v3 gnomAD v4 |
| 5 | g.69534805C>A | CA444855309 | OCLN | c.1003C>A (p.Arg335=) c.841C>A (p.Arg281=) c.*179C>A (n.*179C>A) c.250C>A (p.Arg84=) | gnomAD v4 |
| 5 | g.69534805C= | CA1553964510 | OCLN | c.1003C= (p.Arg335=) c.841C= (p.Arg281=) c.*179C= (n.*179C=) c.250C= (p.Arg84=) | |
| 5 | g.69534805C>G | CA360066830 | OCLN | c.1003C>G (p.Arg335Gly) c.841C>G (p.Arg281Gly) c.*179C>G (n.*179C>G) c.250C>G (p.Arg84Gly) | |
| 5 | g.69534805C>T | CA3294560 | OCLN | c.1003C>T (p.Arg335Trp) c.841C>T (p.Arg281Trp) c.*179C>T (n.*179C>T) c.250C>T (p.Arg84Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69534806G>A | CA207538 | OCLN | c.1004G>A (p.Arg335Gln) c.842G>A (p.Arg281Gln) c.*180G>A (n.*180G>A) c.251G>A (p.Arg84Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.69534806G>C | CA360066835 | OCLN | c.1004G>C (p.Arg335Pro) c.842G>C (p.Arg281Pro) c.*180G>C (n.*180G>C) c.251G>C (p.Arg84Pro) | |
| 5 | g.69534806G= | CA1553964511 | OCLN | c.1004G= (p.Arg335=) c.842G= (p.Arg281=) c.*180G= (n.*180G=) c.251G= (p.Arg84=) | |
| 5 | g.69534806G>T | CA360066833 | OCLN | c.1004G>T (p.Arg335Leu) c.842G>T (p.Arg281Leu) c.*180G>T (n.*180G>T) c.251G>T (p.Arg84Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69534807G>A | CA444855318 | OCLN | c.1005G>A (p.Arg335=) c.843G>A (p.Arg281=) c.*181G>A (n.*181G>A) c.252G>A (p.Arg84=) | gnomAD v3 gnomAD v4 |
| 5 | g.69534807G>C | CA444855320 | OCLN | c.1005G>C (p.Arg335=) c.843G>C (p.Arg281=) c.*181G>C (n.*181G>C) c.252G>C (p.Arg84=) | |
| 5 | g.69534807G>T | CA444855321 | OCLN | c.1005G>T (p.Arg335=) c.843G>T (p.Arg281=) c.*181G>T (n.*181G>T) c.252G>T (p.Arg84=) | |
| 5 | g.69534808T>A | CA360066836 | OCLN | c.1006T>A (p.Phe336Ile) c.844T>A (p.Phe282Ile) c.*182T>A (n.*182T>A) c.253T>A (p.Phe85Ile) | |
| 5 | g.69534808T>C | CA360066838 | OCLN | c.1006T>C (p.Phe336Leu) c.844T>C (p.Phe282Leu) c.*182T>C (n.*182T>C) c.253T>C (p.Phe85Leu) | |
| 5 | g.69534808T>G | CA360066839 | OCLN | c.1006T>G (p.Phe336Val) c.844T>G (p.Phe282Val) c.*182T>G (n.*182T>G) c.253T>G (p.Phe85Val) | |
| 5 | g.69534811del | CA1077228973 | OCLN | c.1009del (p.Tyr337IlefsTer20) c.847del (p.Tyr283IlefsTer20) c.*185del (n.*185del) c.1009del (p.Tyr337IlefsTer17) c.256del (p.Tyr86IlefsTer20) | gnomAD v3 gnomAD v4 |
| 5 | g.69534809T>A | CA360066840 | OCLN | c.1007T>A (p.Phe336Tyr) c.845T>A (p.Phe282Tyr) c.*183T>A (n.*183T>A) c.254T>A (p.Phe85Tyr) | |
| 5 | g.69534809T>C | CA360066842 | OCLN | c.1007T>C (p.Phe336Ser) c.845T>C (p.Phe282Ser) c.*183T>C (n.*183T>C) c.254T>C (p.Phe85Ser) | |
| 5 | g.69534809T>G | CA360066844 | OCLN | c.1007T>G (p.Phe336Cys) c.845T>G (p.Phe282Cys) c.*183T>G (n.*183T>G) c.254T>G (p.Phe85Cys) | |
| 5 | g.69534810T>A | CA360066846 | OCLN | c.1008T>A (p.Phe336Leu) c.846T>A (p.Phe282Leu) c.*184T>A (n.*184T>A) c.255T>A (p.Phe85Leu) | |
| 5 | g.69534810T>C | CA444855327 | OCLN | c.1008T>C (p.Phe336=) c.846T>C (p.Phe282=) c.*184T>C (n.*184T>C) c.255T>C (p.Phe85=) | |
| 5 | g.69534810T>G | CA360066848 | OCLN | c.1008T>G (p.Phe336Leu) c.846T>G (p.Phe282Leu) c.*184T>G (n.*184T>G) c.255T>G (p.Phe85Leu) | |
| 5 | g.69534811T>A | CA360066849 | OCLN | c.1009T>A (p.Tyr337Asn) c.847T>A (p.Tyr283Asn) c.*185T>A (n.*185T>A) c.256T>A (p.Tyr86Asn) | |
| 5 | g.69534811T>C | CA360066851 | OCLN | c.1009T>C (p.Tyr337His) c.847T>C (p.Tyr283His) c.*185T>C (n.*185T>C) c.256T>C (p.Tyr86His) | |
| 5 | g.69534811T>G | CA360066853 | OCLN | c.1009T>G (p.Tyr337Asp) c.847T>G (p.Tyr283Asp) c.*185T>G (n.*185T>G) c.256T>G (p.Tyr86Asp) | |
| 5 | g.69534812A>C | CA360066855 | OCLN | c.1010A>C (p.Tyr337Ser) c.848A>C (p.Tyr283Ser) c.*186A>C (n.*186A>C) c.257A>C (p.Tyr86Ser) | |
| 5 | g.69534812A>G | CA360066859 | OCLN | c.1010A>G (p.Tyr337Cys) c.848A>G (p.Tyr283Cys) c.*186A>G (n.*186A>G) c.257A>G (p.Tyr86Cys) | |
| 5 | g.69534812A>T | CA360066857 | OCLN | c.1010A>T (p.Tyr337Phe) c.848A>T (p.Tyr283Phe) c.*186A>T (n.*186A>T) c.257A>T (p.Tyr86Phe) | |
| 5 | g.69534812_69534822delinsATCCAGAGTCT | CA1553964512 | OCLN | c.1010_1020delinsATCCAGAGTCT (p.Tyr337=) c.848_858delinsATCCAGAGTCT (p.Tyr283=) c.*186_*196delinsATCCAGAGTCT (n.*186_*196delinsATCCAGAGTCT) c.257_267delinsATCCAGAGTCT (p.Tyr86=) | |
| 5 | g.69534813T>A | CA360066861 | OCLN | c.1011T>A (p.Tyr337Ter) c.849T>A (p.Tyr283Ter) c.*187T>A (n.*187T>A) c.258T>A (p.Tyr86Ter) | |
| 5 | g.69534813T>C | CA444855338 | OCLN | c.1011T>C (p.Tyr337=) c.849T>C (p.Tyr283=) c.*187T>C (n.*187T>C) c.258T>C (p.Tyr86=) | |
| 5 | g.69534813T>G | CA360066864 | OCLN | c.1011T>G (p.Tyr337Ter) c.849T>G (p.Tyr283Ter) c.*187T>G (n.*187T>G) c.258T>G (p.Tyr86Ter) | |
| 5 | g.69534816_69534825del | CA3294561 | OCLN | c.1014_1023del (p.Glu339IlefsTer15) c.852_861del (p.Glu285IlefsTer15) c.*190_*199del (n.*190_*199del) c.1014_1023del (p.Glu339IlefsTer12) c.261_270del (p.Glu88IlefsTer15) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69534814C>A | CA360066866 | OCLN | c.1012C>A (p.Pro338Thr) c.850C>A (p.Pro284Thr) c.*188C>A (n.*188C>A) c.259C>A (p.Pro87Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69534814C= | CA1553964513 | OCLN | c.1012C= (p.Pro338=) c.850C= (p.Pro284=) c.*188C= (n.*188C=) c.259C= (p.Pro87=) | |
| 5 | g.69534814C>G | CA360066868 | OCLN | c.1012C>G (p.Pro338Ala) c.850C>G (p.Pro284Ala) c.*188C>G (n.*188C>G) c.259C>G (p.Pro87Ala) | |
| 5 | g.69534814C>T | CA360066870 | OCLN | c.1012C>T (p.Pro338Ser) c.850C>T (p.Pro284Ser) c.*188C>T (n.*188C>T) c.259C>T (p.Pro87Ser) | |
| 5 | g.69534815C>A | CA360066872 | OCLN | c.1013C>A (p.Pro338Gln) c.851C>A (p.Pro284Gln) c.*189C>A (n.*189C>A) c.260C>A (p.Pro87Gln) | gnomAD v4 |
| 5 | g.69534815C>G | CA360066874 | OCLN | c.1013C>G (p.Pro338Arg) c.851C>G (p.Pro284Arg) c.*189C>G (n.*189C>G) c.260C>G (p.Pro87Arg) | gnomAD v4 |
| 5 | g.69534815C>T | CA360066875 | OCLN | c.1013C>T (p.Pro338Leu) c.851C>T (p.Pro284Leu) c.*189C>T (n.*189C>T) c.260C>T (p.Pro87Leu) | |
| 5 | g.69534815_69534817delinsCAG | CA1553964514 | OCLN | c.1013_1015delinsCAG (p.Pro338=) c.851_853delinsCAG (p.Pro284=) c.*189_*191delinsCAG (n.*189_*191delinsCAG) c.260_262delinsCAG (p.Pro87=) | |
| 5 | g.69534816A>C | CA444855352 | OCLN | c.1014A>C (p.Pro338=) c.852A>C (p.Pro284=) c.*190A>C (n.*190A>C) c.261A>C (p.Pro87=) | |
| 5 | g.69534816A>G | CA444855354 | OCLN | c.1014A>G (p.Pro338=) c.852A>G (p.Pro284=) c.*190A>G (n.*190A>G) c.261A>G (p.Pro87=) | |
| 5 | g.69534816A>T | CA444855355 | OCLN | c.1014A>T (p.Pro338=) c.852A>T (p.Pro284=) c.*190A>T (n.*190A>T) c.261A>T (p.Pro87=) | |
| 5 | g.69534818_69534819del | CA658796534 | OCLN | c.1016_1017del (p.Glu339ValfsTer4) c.854_855del (p.Glu285ValfsTer4) c.*192_*193del (n.*192_*193del) c.263_264del (p.Glu88ValfsTer4) | ClinVar dbSNP gnomAD v4 |
| 5 | g.69534817G>A | CA360066878 | OCLN | c.1015G>A (p.Glu339Lys) c.853G>A (p.Glu285Lys) c.*191G>A (n.*191G>A) c.262G>A (p.Glu88Lys) | |
| 5 | g.69534817G>C | CA360066880 | OCLN | c.1015G>C (p.Glu339Gln) c.853G>C (p.Glu285Gln) c.*191G>C (n.*191G>C) c.262G>C (p.Glu88Gln) | |
| 5 | g.69534817G>T | CA360066881 | OCLN | c.1015G>T (p.Glu339Ter) c.853G>T (p.Glu285Ter) c.*191G>T (n.*191G>T) c.262G>T (p.Glu88Ter) | |
| 5 | g.69534818A>C | CA360066883 | OCLN | c.1016A>C (p.Glu339Ala) c.854A>C (p.Glu285Ala) c.*192A>C (n.*192A>C) c.263A>C (p.Glu88Ala) | |
| 5 | g.69534818A>G | CA360066885 | OCLN | c.1016A>G (p.Glu339Gly) c.854A>G (p.Glu285Gly) c.*192A>G (n.*192A>G) c.263A>G (p.Glu88Gly) | |
| 5 | g.69534818A>T | CA360066887 | OCLN | c.1016A>T (p.Glu339Val) c.854A>T (p.Glu285Val) c.*192A>T (n.*192A>T) c.263A>T (p.Glu88Val) | |
| 5 | g.69534819G>A | CA444855364 | OCLN | c.1017G>A (p.Glu339=) c.855G>A (p.Glu285=) c.*193G>A (n.*193G>A) c.264G>A (p.Glu88=) | gnomAD v4 |
| 5 | g.69534819G>C | CA360066889 | OCLN | c.1017G>C (p.Glu339Asp) c.855G>C (p.Glu285Asp) c.*193G>C (n.*193G>C) c.264G>C (p.Glu88Asp) | |
| 5 | g.69534819G>T | CA360066891 | OCLN | c.1017G>T (p.Glu339Asp) c.855G>T (p.Glu285Asp) c.*193G>T (n.*193G>T) c.264G>T (p.Glu88Asp) | |
| 5 | g.69534820T>A | CA360066893 | OCLN | c.1018T>A (p.Ser340Thr) c.856T>A (p.Ser286Thr) c.*194T>A (n.*194T>A) c.265T>A (p.Ser89Thr) | |
| 5 | g.69534820T>C | CA360066894 | OCLN | c.1018T>C (p.Ser340Pro) c.856T>C (p.Ser286Pro) c.*194T>C (n.*194T>C) c.265T>C (p.Ser89Pro) | |
| 5 | g.69534820T>G | CA360066896 | OCLN | c.1018T>G (p.Ser340Ala) c.856T>G (p.Ser286Ala) c.*194T>G (n.*194T>G) c.265T>G (p.Ser89Ala) | |
| 5 | g.69534821C>A | CA360066898 | OCLN | c.1019C>A (p.Ser340Tyr) c.857C>A (p.Ser286Tyr) c.*195C>A (n.*195C>A) c.266C>A (p.Ser89Tyr) | gnomAD v4 |
| 5 | g.69534821C>G | CA360066900 | OCLN | c.1019C>G (p.Ser340Cys) c.857C>G (p.Ser286Cys) c.*195C>G (n.*195C>G) c.266C>G (p.Ser89Cys) | |
| 5 | g.69534821C>T | CA360066902 | OCLN | c.1019C>T (p.Ser340Phe) c.857C>T (p.Ser286Phe) c.*195C>T (n.*195C>T) c.266C>T (p.Ser89Phe) | |
| 5 | g.69534822T>A | CA444855369 | OCLN | c.1020T>A (p.Ser340=) c.858T>A (p.Ser286=) c.*196T>A (n.*196T>A) c.267T>A (p.Ser89=) | |
| 5 | g.69534822T>C | CA444855370 | OCLN | c.1020T>C (p.Ser340=) c.858T>C (p.Ser286=) c.*196T>C (n.*196T>C) c.267T>C (p.Ser89=) | gnomAD v3 gnomAD v4 |
| 5 | g.69534822T>G | CA444855371 | OCLN | c.1020T>G (p.Ser340=) c.858T>G (p.Ser286=) c.*196T>G (n.*196T>G) c.267T>G (p.Ser89=) | |
| 5 | g.69534823T>A | CA360066903 | OCLN | c.1021T>A (p.Ser341Thr) c.859T>A (p.Ser287Thr) c.*197T>A (n.*197T>A) c.268T>A (p.Ser90Thr) | |
| 5 | g.69534823T>C | CA360066905 | OCLN | c.1021T>C (p.Ser341Pro) c.859T>C (p.Ser287Pro) c.*197T>C (n.*197T>C) c.268T>C (p.Ser90Pro) | gnomAD v4 |
| 5 | g.69534823T>G | CA360066906 | OCLN | c.1021T>G (p.Ser341Ala) c.859T>G (p.Ser287Ala) c.*197T>G (n.*197T>G) c.268T>G (p.Ser90Ala) | |
| 5 | g.69534824C>A | CA360066909 | OCLN | c.1022C>A (p.Ser341Tyr) c.860C>A (p.Ser287Tyr) c.*198C>A (n.*198C>A) c.269C>A (p.Ser90Tyr) | |
| 5 | g.69534824C>G | CA360066910 | OCLN | c.1022C>G (p.Ser341Cys) c.860C>G (p.Ser287Cys) c.*198C>G (n.*198C>G) c.269C>G (p.Ser90Cys) | |
| 5 | g.69534824C>T | CA360066912 | OCLN | c.1022C>T (p.Ser341Phe) c.860C>T (p.Ser287Phe) c.*198C>T (n.*198C>T) c.269C>T (p.Ser90Phe) | |
| 5 | g.69534825C>A | CA444855381 | OCLN | c.1023C>A (p.Ser341=) c.861C>A (p.Ser287=) c.*199C>A (n.*199C>A) c.270C>A (p.Ser90=) | gnomAD v3 gnomAD v4 |
| 5 | g.69534825C>G | CA444855382 | OCLN | c.1023C>G (p.Ser341=) c.861C>G (p.Ser287=) c.*199C>G (n.*199C>G) c.270C>G (p.Ser90=) | |
| 5 | g.69534825C>T | CA444855385 | OCLN | c.1023C>T (p.Ser341=) c.861C>T (p.Ser287=) c.*199C>T (n.*199C>T) c.270C>T (p.Ser90=) | gnomAD v4 |
| 5 | g.69534826T>A | CA360066915 | OCLN | c.1024T>A (p.Tyr342Asn) c.862T>A (p.Tyr288Asn) c.*200T>A (n.*200T>A) c.271T>A (p.Tyr91Asn) | |
| 5 | g.69534826T>C | CA360066917 | OCLN | c.1024T>C (p.Tyr342His) c.862T>C (p.Tyr288His) c.*200T>C (n.*200T>C) c.271T>C (p.Tyr91His) | |
| 5 | g.69534826T>G | CA360066916 | OCLN | c.1024T>G (p.Tyr342Asp) c.862T>G (p.Tyr288Asp) c.*200T>G (n.*200T>G) c.271T>G (p.Tyr91Asp) | |
| 5 | g.69534827A>C | CA360066918 | OCLN | c.1025A>C (p.Tyr342Ser) c.863A>C (p.Tyr288Ser) c.*201A>C (n.*201A>C) c.272A>C (p.Tyr91Ser) | gnomAD v4 |
| 5 | g.69534827A>G | CA360066919 | OCLN | c.1025A>G (p.Tyr342Cys) c.863A>G (p.Tyr288Cys) c.*201A>G (n.*201A>G) c.272A>G (p.Tyr91Cys) | |
| 5 | g.69534827A>T | CA360066921 | OCLN | c.1025A>T (p.Tyr342Phe) c.863A>T (p.Tyr288Phe) c.*201A>T (n.*201A>T) c.272A>T (p.Tyr91Phe) | |
| 5 | g.69534828T>A | CA360066922 | OCLN | c.1026T>A (p.Tyr342Ter) c.864T>A (p.Tyr288Ter) c.*202T>A (n.*202T>A) c.273T>A (p.Tyr91Ter) | |
| 5 | g.69534828T>C | CA444855391 | OCLN | c.1026T>C (p.Tyr342=) c.864T>C (p.Tyr288=) c.*202T>C (n.*202T>C) c.273T>C (p.Tyr91=) | |
| 5 | g.69534828T>G | CA360066923 | OCLN | c.1026T>G (p.Tyr342Ter) c.864T>G (p.Tyr288Ter) c.*202T>G (n.*202T>G) c.273T>G (p.Tyr91Ter) | |
| 5 | g.69534829A>C | CA360066924 | OCLN | c.1027A>C (p.Lys343Gln) c.865A>C (p.Lys289Gln) c.*203A>C (n.*203A>C) c.274A>C (p.Lys92Gln) | |
| 5 | g.69534829A>G | CA360066925 | OCLN | c.1027A>G (p.Lys343Glu) c.865A>G (p.Lys289Glu) c.*203A>G (n.*203A>G) c.274A>G (p.Lys92Glu) | gnomAD v4 |
| 5 | g.69534829A>T | CA360066926 | OCLN | c.1027A>T (p.Lys343Ter) c.865A>T (p.Lys289Ter) c.*203A>T (n.*203A>T) c.274A>T (p.Lys92Ter) | |
| 5 | g.69534830A>C | CA360066927 | OCLN | c.1028A>C (p.Lys343Thr) c.866A>C (p.Lys289Thr) c.*204A>C (n.*204A>C) c.275A>C (p.Lys92Thr) | |
| 5 | g.69534830A>G | CA360066928 | OCLN | c.1028A>G (p.Lys343Arg) c.866A>G (p.Lys289Arg) c.*204A>G (n.*204A>G) c.275A>G (p.Lys92Arg) | |
| 5 | g.69534830A>T | CA360066929 | OCLN | c.1028A>T (p.Lys343Ile) c.866A>T (p.Lys289Ile) c.*204A>T (n.*204A>T) c.275A>T (p.Lys92Ile) | |
| 5 | g.69534831A>C | CA360066930 | OCLN | c.1029A>C (p.Lys343Asn) c.867A>C (p.Lys289Asn) c.*205A>C (n.*205A>C) c.276A>C (p.Lys92Asn) | |
| 5 | g.69534831A>G | CA444855401 | OCLN | c.1029A>G (p.Lys343=) c.867A>G (p.Lys289=) c.*205A>G (n.*205A>G) c.276A>G (p.Lys92=) | |
| 5 | g.69534831A>T | CA360066931 | OCLN | c.1029A>T (p.Lys343Asn) c.867A>T (p.Lys289Asn) c.*205A>T (n.*205A>T) c.276A>T (p.Lys92Asn) | |
| 5 | g.69534832T>A | CA360066932 | OCLN | c.1030T>A (p.Ser344Thr) c.868T>A (p.Ser290Thr) c.*206T>A (n.*206T>A) c.277T>A (p.Ser93Thr) | |
| 5 | g.69534832T>C | CA360066934 | OCLN | c.1030T>C (p.Ser344Pro) c.868T>C (p.Ser290Pro) c.*206T>C (n.*206T>C) c.277T>C (p.Ser93Pro) | |
| 5 | g.69534832T>G | CA360066933 | OCLN | c.1030T>G (p.Ser344Ala) c.868T>G (p.Ser290Ala) c.*206T>G (n.*206T>G) c.277T>G (p.Ser93Ala) | |
| 5 | g.69534833C>A | CA360066935 | OCLN | c.1031C>A (p.Ser344Tyr) c.869C>A (p.Ser290Tyr) c.*207C>A (n.*207C>A) c.278C>A (p.Ser93Tyr) | gnomAD v4 |
| 5 | g.69534833C= | CA1553964515 | OCLN | c.1031C= (p.Ser344=) c.869C= (p.Ser290=) c.*207C= (n.*207C=) c.278C= (p.Ser93=) | |
| 5 | g.69534833C>G | CA360066936 | OCLN | c.1031C>G (p.Ser344Cys) c.869C>G (p.Ser290Cys) c.*207C>G (n.*207C>G) c.278C>G (p.Ser93Cys) | dbSNP |
| 5 | g.69534833C>T | CA360066937 | OCLN | c.1031C>T (p.Ser344Phe) c.869C>T (p.Ser290Phe) c.*207C>T (n.*207C>T) c.278C>T (p.Ser93Phe) | |
| 5 | g.69534834C>A | CA444855410 | OCLN | c.1032C>A (p.Ser344=) c.870C>A (p.Ser290=) c.*208C>A (n.*208C>A) c.279C>A (p.Ser93=) | gnomAD v4 |
| 5 | g.69534834C>G | CA444855412 | OCLN | c.1032C>G (p.Ser344=) c.870C>G (p.Ser290=) c.*208C>G (n.*208C>G) c.279C>G (p.Ser93=) | |
| 5 | g.69534834C>T | CA444855414 | OCLN | c.1032C>T (p.Ser344=) c.870C>T (p.Ser290=) c.*208C>T (n.*208C>T) c.279C>T (p.Ser93=) | gnomAD v3 gnomAD v4 |
| 5 | g.69534835A= | CA1553964516 | OCLN | c.1033A= (p.Thr345=) c.871A= (p.Thr291=) c.*209A= (n.*209A=) c.280A= (p.Thr94=) | |
| 5 | g.69534835A>C | CA360066938 | OCLN | c.1033A>C (p.Thr345Pro) c.871A>C (p.Thr291Pro) c.*209A>C (n.*209A>C) c.280A>C (p.Thr94Pro) | |
| 5 | g.69534835A>G | CA3294562 | OCLN | c.1033A>G (p.Thr345Ala) c.871A>G (p.Thr291Ala) c.*209A>G (n.*209A>G) c.280A>G (p.Thr94Ala) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.69534835A>T | CA360066939 | OCLN | c.1033A>T (p.Thr345Ser) c.871A>T (p.Thr291Ser) c.*209A>T (n.*209A>T) c.280A>T (p.Thr94Ser) | |
| 5 | g.69534836C>A | CA360066940 | OCLN | c.1034C>A (p.Thr345Lys) c.872C>A (p.Thr291Lys) c.*210C>A (n.*210C>A) c.281C>A (p.Thr94Lys) | gnomAD v4 |
| 5 | g.69534836C= | CA1553964517 | OCLN | c.1034C= (p.Thr345=) c.872C= (p.Thr291=) c.*210C= (n.*210C=) c.281C= (p.Thr94=) | |
| 5 | g.69534836C>G | CA360066941 | OCLN | c.1034C>G (p.Thr345Arg) c.872C>G (p.Thr291Arg) c.*210C>G (n.*210C>G) c.281C>G (p.Thr94Arg) | |
| 5 | g.69534836C>T | CA3294563 | OCLN | c.1034C>T (p.Thr345Met) c.872C>T (p.Thr291Met) c.*210C>T (n.*210C>T) c.281C>T (p.Thr94Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69534838_69534840del | CA2766867435 | OCLN | c.1036_1037+1del c.874_875+1del c.*212_*213+1del c.283_284+1del | |
| 5 | g.69534837G>A | CA3294564 | OCLN | c.1035G>A (p.Thr345=) c.873G>A (p.Thr291=) c.*211G>A (n.*211G>A) c.282G>A (p.Thr94=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.69534837G>C | CA444855428 | OCLN | c.1035G>C (p.Thr345=) c.873G>C (p.Thr291=) c.*211G>C (n.*211G>C) c.282G>C (p.Thr94=) | |
| 5 | g.69534837G= | CA1553964518 | OCLN | c.1035G= (p.Thr345=) c.873G= (p.Thr291=) c.*211G= (n.*211G=) c.282G= (p.Thr94=) | |
| 5 | g.69534837G>T | CA444855426 | OCLN | c.1035G>T (p.Thr345=) c.873G>T (p.Thr291=) c.*211G>T (n.*211G>T) c.282G>T (p.Thr94=) | gnomAD v4 |
| 5 | g.69534838C>A | CA360066942 | OCLN | c.1036C>A (p.Pro346Thr) c.874C>A (p.Pro292Thr) c.*212C>A (n.*212C>A) c.283C>A (p.Pro95Thr) | gnomAD v4 |
| 5 | g.69534838C= | CA1553964519 | OCLN | c.1036C= (p.Pro346=) c.874C= (p.Pro292=) c.*212C= (n.*212C=) c.283C= (p.Pro95=) | |
| 5 | g.69534838C>G | CA360066944 | OCLN | c.1036C>G (p.Pro346Ala) c.874C>G (p.Pro292Ala) c.*212C>G (n.*212C>G) c.283C>G (p.Pro95Ala) | |
| 5 | g.69534838C>T | CA360066943 | OCLN | c.1036C>T (p.Pro346Ser) c.874C>T (p.Pro292Ser) c.*212C>T (n.*212C>T) c.283C>T (p.Pro95Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69534839C>A | CA360066945 | OCLN | c.1037C>A (p.Pro346Gln) c.875C>A (p.Pro292Gln) c.*213C>A (n.*213C>A) c.1037C>A (p.Pro346His) c.284C>A (p.Pro95Gln) | dbSNP gnomAD v4 |
| 5 | g.69534839C= | CA1553964520 | OCLN | c.1037C= (p.Pro346=) c.875C= (p.Pro292=) c.*213C= (n.*213C=) c.284C= (p.Pro95=) | |
| 5 | g.69534839C>G | CA360066947 | OCLN | c.1037C>G (p.Pro346Arg) c.875C>G (p.Pro292Arg) c.*213C>G (n.*213C>G) c.284C>G (p.Pro95Arg) | |
| 5 | g.69534839C>T | CA360066946 | OCLN | c.1037C>T (p.Pro346Leu) c.875C>T (p.Pro292Leu) c.*213C>T (n.*213C>T) c.284C>T (p.Pro95Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69534840G>A | CA3294566 | OCLN | c.1037+1G>A (n.1037+1G>A) c.875+1G>A (n.875+1G>A) c.*213+1G>A (n.*213+1G>A) c.284+1G>A (n.284+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69534840G>C | CA360066948 | OCLN | c.1037+1G>C (n.1037+1G>C) c.875+1G>C (n.875+1G>C) c.*213+1G>C (n.*213+1G>C) c.284+1G>C (n.284+1G>C) | |
| 5 | g.69534840G= | CA1553964521 | OCLN | c.1037+1G= (n.1037+1G=) c.875+1G= (n.875+1G=) c.*213+1G= (n.*213+1G=) c.284+1G= (n.284+1G=) | |
| 5 | g.69534840G>T | CA3294565 | OCLN | c.1037+1G>T (n.1037+1G>T) c.875+1G>T (n.875+1G>T) c.*213+1G>T (n.*213+1G>T) c.284+1G>T (n.284+1G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69534841T>A | CA360066949 | OCLN | c.1037+2T>A (n.1037+2T>A) c.875+2T>A (n.875+2T>A) c.*213+2T>A (n.*213+2T>A) c.284+2T>A (n.284+2T>A) | |
| 5 | g.69534841T>C | CA360066951 | OCLN | c.1037+2T>C (n.1037+2T>C) c.875+2T>C (n.875+2T>C) c.*213+2T>C (n.*213+2T>C) c.284+2T>C (n.284+2T>C) | |
| 5 | g.69534841T>G | CA360066950 | OCLN | c.1037+2T>G (n.1037+2T>G) c.875+2T>G (n.875+2T>G) c.*213+2T>G (n.*213+2T>G) c.284+2T>G (n.284+2T>G) | |
| 5 | g.69534842A= | CA1553964522 | OCLN | c.1037+3A= (n.1037+3A=) c.875+3A= (n.875+3A=) c.*213+3A= (n.*213+3A=) c.284+3A= (n.284+3A=) | |
| 5 | g.69534842A>G | CA1553964523 | OCLN | c.1037+3A>G (n.1037+3A>G) c.875+3A>G (n.875+3A>G) c.*213+3A>G (n.*213+3A>G) c.284+3A>G (n.284+3A>G) | dbSNP gnomAD v4 |
| 5 | g.69534842A>T | CA2674136490 | OCLN | c.1037+3A>T (n.1037+3A>T) c.875+3A>T (n.875+3A>T) c.*213+3A>T (n.*213+3A>T) c.284+3A>T (n.284+3A>T) | gnomAD v4 |
| 5 | g.69534843del | CA2674136489 | OCLN | c.1037+4del (n.1037+4del) c.875+4del (n.875+4del) c.*213+4del (n.*213+4del) c.284+4del (n.284+4del) | gnomAD v4 |
| 5 | g.69534844G>A | CA213344 | OCLN | c.1037+5G>A (n.1037+5G>A) c.875+5G>A (n.875+5G>A) c.*213+5G>A (n.*213+5G>A) c.284+5G>A (n.284+5G>A) | ClinVar dbSNP |
| 5 | g.69534844G>C | CA2695204595 | OCLN | c.1037+5G>C (n.1037+5G>C) c.875+5G>C (n.875+5G>C) c.*213+5G>C (n.*213+5G>C) c.284+5G>C (n.284+5G>C) | |
| 5 | g.69534844G= | CA1553964524 | OCLN | c.1037+5G= (n.1037+5G=) c.875+5G= (n.875+5G=) c.*213+5G= (n.*213+5G=) c.284+5G= (n.284+5G=) | |
| 5 | g.69534845T>C | CA3294567 | OCLN | c.1037+6T>C (n.1037+6T>C) c.875+6T>C (n.875+6T>C) c.*213+6T>C (n.*213+6T>C) c.284+6T>C (n.284+6T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69534845T= | CA1553964525 | OCLN | c.1037+6T= (n.1037+6T=) c.875+6T= (n.875+6T=) c.*213+6T= (n.*213+6T=) c.284+6T= (n.284+6T=) | |
| 5 | g.69534845_69534846delinsTA | CA1553964526 | OCLN | c.1037+6_1037+7delinsTA (n.1037+6_1037+7delinsTA) c.875+6_875+7delinsTA (n.875+6_875+7delinsTA) c.*213+6_*213+7delinsTA (n.*213+6_*213+7delinsTA) c.284+6_284+7delinsTA (n.284+6_284+7delinsTA) | |
| 5 | g.69534846del | CA560251862 | OCLN | c.1037+7del (n.1037+7del) c.875+7del (n.875+7del) c.*213+7del (n.*213+7del) c.284+7del (n.284+7del) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69534846A>G | CA2674136491 | OCLN | c.1037+7A>G (n.1037+7A>G) c.875+7A>G (n.875+7A>G) c.*213+7A>G (n.*213+7A>G) c.284+7A>G (n.284+7A>G) | gnomAD v4 |
| 5 | g.69534846A>T | CA2674136492 | OCLN | c.1037+7A>T (n.1037+7A>T) c.875+7A>T (n.875+7A>T) c.*213+7A>T (n.*213+7A>T) c.284+7A>T (n.284+7A>T) | gnomAD v4 |
| 5 | g.69534847G>A | CA560251863 | OCLN | c.1037+8G>A (n.1037+8G>A) c.875+8G>A (n.875+8G>A) c.*213+8G>A (n.*213+8G>A) c.284+8G>A (n.284+8G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69534847G= | CA1553964527 | OCLN | c.1037+8G= (n.1037+8G=) c.875+8G= (n.875+8G=) c.*213+8G= (n.*213+8G=) c.284+8G= (n.284+8G=) | |
| 5 | g.69534847G>T | CA2674136493 | OCLN | c.1037+8G>T (n.1037+8G>T) c.875+8G>T (n.875+8G>T) c.*213+8G>T (n.*213+8G>T) c.284+8G>T (n.284+8G>T) | gnomAD v4 |
| 5 | g.69534848C>A | CA2674136494 | OCLN | c.1037+9C>A (n.1037+9C>A) c.875+9C>A (n.875+9C>A) c.*213+9C>A (n.*213+9C>A) c.284+9C>A (n.284+9C>A) | gnomAD v4 |
| 5 | g.69534848C= | CA1553964528 | OCLN | c.1037+9C= (n.1037+9C=) c.875+9C= (n.875+9C=) c.*213+9C= (n.*213+9C=) c.284+9C= (n.284+9C=) | |
| 5 | g.69534848C>T | CA1553964529 | OCLN | c.1037+9C>T (n.1037+9C>T) c.875+9C>T (n.875+9C>T) c.*213+9C>T (n.*213+9C>T) c.284+9C>T (n.284+9C>T) | dbSNP gnomAD v4 |
| 5 | g.69534849A>T | CA2674136495 | OCLN | c.1037+10A>T (n.1037+10A>T) c.875+10A>T (n.875+10A>T) c.*213+10A>T (n.*213+10A>T) c.284+10A>T (n.284+10A>T) | gnomAD v4 |
| 5 | g.69534849_69534853delinsATCTC | CA1553964530 | OCLN | c.1037+10_1037+14delinsATCTC (n.1037+10_1037+14delinsATCTC) c.875+10_875+14delinsATCTC (n.875+10_875+14delinsATCTC) c.*213+10_*213+14delinsATCTC (n.*213+10_*213+14delinsATCTC) c.284+10_284+14delinsATCTC (n.284+10_284+14delinsATCTC) | |
| 5 | g.69534850T>C | CA2674136496 | OCLN | c.1037+11T>C (n.1037+11T>C) c.875+11T>C (n.875+11T>C) c.*213+11T>C (n.*213+11T>C) c.284+11T>C (n.284+11T>C) | gnomAD v4 |
| 5 | g.69534853_69534856del | CA1553964531 | OCLN | c.1037+14_1037+17del (n.1037+14_1037+17del) c.875+14_875+17del (n.875+14_875+17del) c.*213+14_*213+17del (n.*213+14_*213+17del) c.284+14_284+17del (n.284+14_284+17del) | dbSNP gnomAD v4 |
| 5 | g.69534851C>A | CA2674136497 | OCLN | c.1037+12C>A (n.1037+12C>A) c.875+12C>A (n.875+12C>A) c.*213+12C>A (n.*213+12C>A) c.284+12C>A (n.284+12C>A) | gnomAD v4 |
| 5 | g.69534852T>C | CA2674136498 | OCLN | c.1037+13T>C (n.1037+13T>C) c.875+13T>C (n.875+13T>C) c.*213+13T>C (n.*213+13T>C) c.284+13T>C (n.284+13T>C) | gnomAD v4 |
| 5 | g.69534853C>A | CA2502697216 | OCLN | c.1037+14C>A (n.1037+14C>A) c.875+14C>A (n.875+14C>A) c.*213+14C>A (n.*213+14C>A) c.284+14C>A (n.284+14C>A) | gnomAD v4 |
| 5 | g.69534853C= | CA1553964532 | OCLN | c.1037+14C= (n.1037+14C=) c.875+14C= (n.875+14C=) c.*213+14C= (n.*213+14C=) c.284+14C= (n.284+14C=) | |
| 5 | g.69534853C>T | CA120715149 | OCLN | c.1037+14C>T (n.1037+14C>T) c.875+14C>T (n.875+14C>T) c.*213+14C>T (n.*213+14C>T) c.284+14C>T (n.284+14C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69534854T>C | CA2674136500 | OCLN | c.1037+15T>C (n.1037+15T>C) c.875+15T>C (n.875+15T>C) c.*213+15T>C (n.*213+15T>C) c.284+15T>C (n.284+15T>C) | gnomAD v4 |
| 5 | g.69534854_69534857del | CA2674136499 | OCLN | c.1037+15_1037+18del (n.1037+15_1037+18del) c.875+15_875+18del (n.875+15_875+18del) c.*213+15_*213+18del (n.*213+15_*213+18del) c.284+15_284+18del (n.284+15_284+18del) | gnomAD v4 |