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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 |
|---|---|---|---|---|---|
| 6 | g.63720629A>C | CA450861718 | EYS,PHF3 | c.*6921A>C (n.*6921A>C) c.9402T>G (p.Val3134=) c.9465T>G (p.Val3155=) c.363+9267A>C | |
| 6 | g.63720629A>G | CA450861720 | EYS,PHF3 | c.*6921A>G (n.*6921A>G) c.9402T>C (p.Val3134=) c.9465T>C (p.Val3155=) c.363+9267A>G | |
| 6 | g.63720629A>T | CA450861722 | EYS,PHF3 | c.*6921A>T (n.*6921A>T) c.9402T>A (p.Val3134=) c.9465T>A (p.Val3155=) c.363+9267A>T | |
| 6 | g.63720630A>C | CA364382558 | EYS,PHF3 | c.*6922A>C (n.*6922A>C) c.9401T>G (p.Val3134Gly) c.9464T>G (p.Val3155Gly) c.363+9268A>C | |
| 6 | g.63720630A>G | CA364382559 | EYS,PHF3 | c.*6922A>G (n.*6922A>G) c.9401T>C (p.Val3134Ala) c.9464T>C (p.Val3155Ala) c.363+9268A>G | ClinVar dbSNP gnomAD v4 |
| 6 | g.63720630A>T | CA364382560 | EYS,PHF3 | c.*6922A>T (n.*6922A>T) c.9401T>A (p.Val3134Asp) c.9464T>A (p.Val3155Asp) c.363+9268A>T | |
| 6 | g.63720630_63720631delinsAC | CA1633380574 | EYS,PHF3 | c.*6922_*6923delinsAC (n.*6922_*6923delinsAC) c.9400_9401delinsGT (p.Val3134=) c.9463_9464delinsGT (p.Val3155=) c.363+9268_363+9269delinsAC | |
| 6 | g.63720631del | CA10604476 | EYS,PHF3 | c.*6923del (n.*6923del) c.9400del (p.Val3134PhefsTer?) c.9463del (p.Val3155PhefsTer?) c.363+9269del | ClinVar dbSNP gnomAD v4 |
| 6 | g.63720631C>A | CA364382561 | EYS,PHF3 | c.*6923C>A (n.*6923C>A) c.9400G>T (p.Val3134Phe) c.9463G>T (p.Val3155Phe) c.363+9269C>A | |
| 6 | g.63720631C>G | CA364382563 | EYS,PHF3 | c.*6923C>G (n.*6923C>G) c.9400G>C (p.Val3134Leu) c.9463G>C (p.Val3155Leu) c.363+9269C>G | |
| 6 | g.63720631C>T | CA364382562 | EYS,PHF3 | c.*6923C>T (n.*6923C>T) c.9400G>A (p.Val3134Ile) c.9463G>A (p.Val3155Ile) c.363+9269C>T | gnomAD v4 |
| 6 | g.63720631_63720651delinsCATTGTATCCTTCTAATTTAA | CA1633380581 | EYS,PHF3 | c.*6923_*6943delinsCATTGTATCCTTCTAATTTAA (n.*6923_*6943delinsCATTGTATCCTTCTAATTTAA) c.9380_9400delinsTTAAATTAGAAGGATACAATG (p.Ile3127=) c.9443_9463delinsTTAAATTAGAAGGATACAATG (p.Ile3148=) c.363+9269_363+9289delinsCATTGTATCCTTCTAATTTAA | |
| 6 | g.63720632del | CA2739273148 | EYS,PHF3 | c.*6924del (n.*6924del) c.9399del (p.Asn3133LysfsTer?) c.9462del (p.Asn3154LysfsTer?) c.363+9270del | ClinVar |
| 6 | g.63720632A>C | CA364382564 | EYS,PHF3 | c.*6924A>C (n.*6924A>C) c.9399T>G (p.Asn3133Lys) c.9462T>G (p.Asn3154Lys) c.363+9270A>C | |
| 6 | g.63720632A>G | CA450861726 | EYS,PHF3 | c.*6924A>G (n.*6924A>G) c.9399T>C (p.Asn3133=) c.9462T>C (p.Asn3154=) c.363+9270A>G | ClinVar dbSNP gnomAD v4 |
| 6 | g.63720632A>T | CA364382565 | EYS,PHF3 | c.*6924A>T (n.*6924A>T) c.9399T>A (p.Asn3133Lys) c.9462T>A (p.Asn3154Lys) c.363+9270A>T | |
| 6 | g.63720632_63720634dup | CA2679279862 | EYS,PHF3 | c.*6924_*6926dup (n.*6924_*6926dup) c.9397_9399dup (p.Asn3133_Val3134insAsn) c.9460_9462dup (p.Asn3154_Val3155insAsn) c.363+9270_363+9272dup | gnomAD v4 |
| 6 | g.63720632_63720651del | CA915944315 | EYS,PHF3 | c.*6924_*6943del (n.*6924_*6943del) c.9380_9399del (p.Ile3127SerfsTer3) c.9443_9462del (p.Ile3148SerfsTer3) c.363+9270_363+9289del | ClinVar dbSNP |
| 6 | g.63720633T>A | CA364382566 | EYS,PHF3 | c.*6925T>A (n.*6925T>A) c.9398A>T (p.Asn3133Ile) c.9461A>T (p.Asn3154Ile) c.363+9271T>A | |
| 6 | g.63720633T>C | CA364382567 | EYS,PHF3 | c.*6925T>C (n.*6925T>C) c.9398A>G (p.Asn3133Ser) c.9461A>G (p.Asn3154Ser) c.363+9271T>C | gnomAD v4 |
| 6 | g.63720633T>G | CA364382568 | EYS,PHF3 | c.*6925T>G (n.*6925T>G) c.9398A>C (p.Asn3133Thr) c.9461A>C (p.Asn3154Thr) c.363+9271T>G | |
| 6 | g.63720633_63720634dup | CA2695206625 | EYS,PHF3 | c.*6925_*6926dup (n.*6925_*6926dup) c.9397_9398dup (p.Asn3133LysfsTer?) c.9460_9461dup (p.Asn3154LysfsTer?) c.363+9271_363+9272dup | ClinVar |
| 6 | g.63720634T>A | CA364382569 | EYS,PHF3 | c.*6926T>A (n.*6926T>A) c.9397A>T (p.Asn3133Tyr) c.9460A>T (p.Asn3154Tyr) c.363+9272T>A | |
| 6 | g.63720634T>C | CA364382570 | EYS,PHF3 | c.*6926T>C (n.*6926T>C) c.9397A>G (p.Asn3133Asp) c.9460A>G (p.Asn3154Asp) c.363+9272T>C | |
| 6 | g.63720634T>G | CA364382571 | EYS,PHF3 | c.*6926T>G (n.*6926T>G) c.9397A>C (p.Asn3133His) c.9460A>C (p.Asn3154His) c.363+9272T>G | |
| 6 | g.63720635G>A | CA450861728 | EYS,PHF3 | c.*6927G>A (n.*6927G>A) c.9396C>T (p.Tyr3132=) c.9459C>T (p.Tyr3153=) c.363+9273G>A | ClinVar dbSNP gnomAD v4 |
| 6 | g.63720635G>C | CA364382572 | EYS,PHF3 | c.*6927G>C (n.*6927G>C) c.9396C>G (p.Tyr3132Ter) c.9459C>G (p.Tyr3153Ter) c.363+9273G>C | |
| 6 | g.63720635G>T | CA364382573 | EYS,PHF3 | c.*6927G>T (n.*6927G>T) c.9396C>A (p.Tyr3132Ter) c.9459C>A (p.Tyr3153Ter) c.363+9273G>T | |
| 6 | g.63720636T>A | CA364382575 | EYS,PHF3 | c.*6928T>A (n.*6928T>A) c.9395A>T (p.Tyr3132Phe) c.9458A>T (p.Tyr3153Phe) c.363+9274T>A | |
| 6 | g.63720636T>C | CA364382576 | EYS,PHF3 | c.*6928T>C (n.*6928T>C) c.9395A>G (p.Tyr3132Cys) c.9458A>G (p.Tyr3153Cys) c.363+9274T>C | |
| 6 | g.63720636T>G | CA364382574 | EYS,PHF3 | c.*6928T>G (n.*6928T>G) c.9395A>C (p.Tyr3132Ser) c.9458A>C (p.Tyr3153Ser) c.363+9274T>G | |
| 6 | g.63720637A>C | CA364382578 | EYS,PHF3 | c.*6929A>C (n.*6929A>C) c.9394T>G (p.Tyr3132Asp) c.9457T>G (p.Tyr3153Asp) c.363+9275A>C | |
| 6 | g.63720637A>G | CA364382577 | EYS,PHF3 | c.*6929A>G (n.*6929A>G) c.9394T>C (p.Tyr3132His) c.9457T>C (p.Tyr3153His) c.363+9275A>G | COSMIC |
| 6 | g.63720637A>T | CA364382579 | EYS,PHF3 | c.*6929A>T (n.*6929A>T) c.9394T>A (p.Tyr3132Asn) c.9457T>A (p.Tyr3153Asn) c.363+9275A>T | |
| 6 | g.63720638T>A | CA450861736 | EYS,PHF3 | c.*6930T>A (n.*6930T>A) c.9393A>T (p.Gly3131=) c.9456A>T (p.Gly3152=) c.363+9276T>A | gnomAD v4 |
| 6 | g.63720638T>C | CA450861737 | EYS,PHF3 | c.*6930T>C (n.*6930T>C) c.9393A>G (p.Gly3131=) c.9456A>G (p.Gly3152=) c.363+9276T>C | |
| 6 | g.63720638T>G | CA450861738 | EYS,PHF3 | c.*6930T>G (n.*6930T>G) c.9393A>C (p.Gly3131=) c.9456A>C (p.Gly3152=) c.363+9276T>G | COSMIC |
| 6 | g.63720639C>A | CA364382580 | EYS,PHF3 | c.*6931C>A (n.*6931C>A) c.9392G>T (p.Gly3131Val) c.9455G>T (p.Gly3152Val) c.363+9277C>A | |
| 6 | g.63720639C= | CA1633380590 | EYS,PHF3 | c.*6931C= (n.*6931C=) c.9392G= (p.Gly3131=) c.9455G= (p.Gly3152=) c.363+9277C= | |
| 6 | g.63720639C>G | CA3876667 | EYS,PHF3 | c.*6931C>G (n.*6931C>G) c.9392G>C (p.Gly3131Ala) c.9455G>C (p.Gly3152Ala) c.363+9277C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63720639C>T | CA364382581 | EYS,PHF3 | c.*6931C>T (n.*6931C>T) c.9392G>A (p.Gly3131Glu) c.9455G>A (p.Gly3152Glu) c.363+9277C>T | ClinVar dbSNP gnomAD v4 |
| 6 | g.63720639_63720642delinsCCTT | CA1633380594 | EYS,PHF3 | c.*6931_*6934delinsCCTT (n.*6931_*6934delinsCCTT) c.9389_9392delinsAAGG (p.Glu3130=) c.9452_9455delinsAAGG (p.Glu3151=) c.363+9277_363+9280delinsCCTT | |
| 6 | g.63720640C>A | CA364382582 | EYS,PHF3 | c.*6932C>A (n.*6932C>A) c.9391G>T (p.Gly3131Ter) c.9454G>T (p.Gly3152Ter) c.363+9278C>A | gnomAD v4 |
| 6 | g.63720640C= | CA1633380599 | EYS,PHF3 | c.*6932C= (n.*6932C=) c.9391G= (p.Gly3131=) c.9454G= (p.Gly3152=) c.363+9278C= | |
| 6 | g.63720640C>G | CA364382583 | EYS,PHF3 | c.*6932C>G (n.*6932C>G) c.9391G>C (p.Gly3131Arg) c.9454G>C (p.Gly3152Arg) c.363+9278C>G | |
| 6 | g.63720640C>T | CA364382584 | EYS,PHF3 | c.*6932C>T (n.*6932C>T) c.9391G>A (p.Gly3131Arg) c.9454G>A (p.Gly3152Arg) c.363+9278C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63720642_63720644del | CA568118964 | EYS,PHF3 | c.*6934_*6936del (n.*6934_*6936del) c.9389_9391del (p.Glu3130del) c.9452_9454del (p.Glu3151del) c.363+9280_363+9282del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63720641T>A | CA364382585 | EYS,PHF3 | c.*6933T>A (n.*6933T>A) c.9390A>T (p.Glu3130Asp) c.9453A>T (p.Glu3151Asp) c.363+9279T>A | |
| 6 | g.63720641T>C | CA450861743 | EYS,PHF3 | c.*6933T>C (n.*6933T>C) c.9390A>G (p.Glu3130=) c.9453A>G (p.Glu3151=) c.363+9279T>C | |
| 6 | g.63720641T>G | CA364382586 | EYS,PHF3 | c.*6933T>G (n.*6933T>G) c.9390A>C (p.Glu3130Asp) c.9453A>C (p.Glu3151Asp) c.363+9279T>G | |
| 6 | g.63720642T>A | CA364382587 | EYS,PHF3 | c.*6934T>A (n.*6934T>A) c.9389A>T (p.Glu3130Val) c.9452A>T (p.Glu3151Val) c.363+9280T>A | |
| 6 | g.63720642T>C | CA364382588 | EYS,PHF3 | c.*6934T>C (n.*6934T>C) c.9389A>G (p.Glu3130Gly) c.9452A>G (p.Glu3151Gly) c.363+9280T>C | gnomAD v4 |
| 6 | g.63720642T>G | CA364382589 | EYS,PHF3 | c.*6934T>G (n.*6934T>G) c.9389A>C (p.Glu3130Ala) c.9452A>C (p.Glu3151Ala) c.363+9280T>G | dbSNP |
| 6 | g.63720642T= | CA1633380603 | EYS,PHF3 | c.*6934T= (n.*6934T=) c.9389A= (p.Glu3130=) c.9452A= (p.Glu3151=) c.363+9280T= | |
| 6 | g.63720643C>A | CA364382590 | EYS,PHF3 | c.*6935C>A (n.*6935C>A) c.9388G>T (p.Glu3130Ter) c.9451G>T (p.Glu3151Ter) c.363+9281C>A | ClinVar gnomAD v4 |
| 6 | g.63720643C>G | CA364382591 | EYS,PHF3 | c.*6935C>G (n.*6935C>G) c.9388G>C (p.Glu3130Gln) c.9451G>C (p.Glu3151Gln) c.363+9281C>G | gnomAD v4 |
| 6 | g.63720643C>T | CA364382592 | EYS,PHF3 | c.*6935C>T (n.*6935C>T) c.9388G>A (p.Glu3130Lys) c.9451G>A (p.Glu3151Lys) c.363+9281C>T | |
| 6 | g.63720643_63720648delinsCTAATT | CA1633380607 | EYS,PHF3 | c.*6935_*6940delinsCTAATT (n.*6935_*6940delinsCTAATT) c.9383_9388delinsAATTAG (p.Lys3128=) c.9446_9451delinsAATTAG (p.Lys3149=) c.363+9281_363+9286delinsCTAATT | |
| 6 | g.63720644T>A | CA364382593 | EYS,PHF3 | c.*6936T>A (n.*6936T>A) c.9387A>T (p.Leu3129Phe) c.9450A>T (p.Leu3150Phe) c.363+9282T>A | |
| 6 | g.63720644T>C | CA450861748 | EYS,PHF3 | c.*6936T>C (n.*6936T>C) c.9387A>G (p.Leu3129=) c.9450A>G (p.Leu3150=) c.363+9282T>C | |
| 6 | g.63720644T>G | CA140236781 | EYS,PHF3 | c.*6936T>G (n.*6936T>G) c.9387A>C (p.Leu3129Phe) c.9450A>C (p.Leu3150Phe) c.363+9282T>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63720644T= | CA1633380611 | EYS,PHF3 | c.*6936T= (n.*6936T=) c.9387A= (p.Leu3129=) c.9450A= (p.Leu3150=) c.363+9282T= | |
| 6 | g.63720649_63720653del | CA826968470 | EYS,PHF3 | c.*6941_*6945del (n.*6941_*6945del) c.9383_9387del (p.Lys3128ArgfsTer7) c.9446_9450del (p.Lys3149ArgfsTer7) c.363+9287_363+9291del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63720645A>C | CA364382594 | EYS,PHF3 | c.*6937A>C (n.*6937A>C) c.9386T>G (p.Leu3129Ter) c.9449T>G (p.Leu3150Ter) c.363+9283A>C | |
| 6 | g.63720645A>G | CA364382595 | EYS,PHF3 | c.*6937A>G (n.*6937A>G) c.9386T>C (p.Leu3129Ser) c.9449T>C (p.Leu3150Ser) c.363+9283A>G | gnomAD v4 |
| 6 | g.63720645A>T | CA364382596 | EYS,PHF3 | c.*6937A>T (n.*6937A>T) c.9386T>A (p.Leu3129Ter) c.9449T>A (p.Leu3150Ter) c.363+9283A>T | |
| 6 | g.63720646A>C | CA364382597 | EYS,PHF3 | c.*6938A>C (n.*6938A>C) c.9385T>G (p.Leu3129Val) c.9448T>G (p.Leu3150Val) c.363+9284A>C | |
| 6 | g.63720646A>G | CA450861750 | EYS,PHF3 | c.*6938A>G (n.*6938A>G) c.9385T>C (p.Leu3129=) c.9448T>C (p.Leu3150=) c.363+9284A>G | gnomAD v4 |
| 6 | g.63720646A>T | CA364382598 | EYS,PHF3 | c.*6938A>T (n.*6938A>T) c.9385T>A (p.Leu3129Ile) c.9448T>A (p.Leu3150Ile) c.363+9284A>T | |
| 6 | g.63720647T>A | CA364382599 | EYS,PHF3 | c.*6939T>A (n.*6939T>A) c.9384A>T (p.Lys3128Asn) c.9447A>T (p.Lys3149Asn) c.363+9285T>A | |
| 6 | g.63720647T>C | CA450861751 | EYS,PHF3 | c.*6939T>C (n.*6939T>C) c.9384A>G (p.Lys3128=) c.9447A>G (p.Lys3149=) c.363+9285T>C | |
| 6 | g.63720647T>G | CA364382600 | EYS,PHF3 | c.*6939T>G (n.*6939T>G) c.9384A>C (p.Lys3128Asn) c.9447A>C (p.Lys3149Asn) c.363+9285T>G | |
| 6 | g.63720647_63720651delinsTTTAA | CA1633380616 | EYS,PHF3 | c.*6939_*6943delinsTTTAA (n.*6939_*6943delinsTTTAA) c.9380_9384delinsTTAAA (p.Ile3127=) c.9443_9447delinsTTAAA (p.Ile3148=) c.363+9285_363+9289delinsTTTAA | |
| 6 | g.63720648T>A | CA364382601 | EYS,PHF3 | c.*6940T>A (n.*6940T>A) c.9383A>T (p.Lys3128Ile) c.9446A>T (p.Lys3149Ile) c.363+9286T>A | |
| 6 | g.63720648T>C | CA364382603 | EYS,PHF3 | c.*6940T>C (n.*6940T>C) c.9383A>G (p.Lys3128Arg) c.9446A>G (p.Lys3149Arg) c.363+9286T>C | dbSNP gnomAD v4 |
| 6 | g.63720648T>G | CA364382602 | EYS,PHF3 | c.*6940T>G (n.*6940T>G) c.9383A>C (p.Lys3128Thr) c.9446A>C (p.Lys3149Thr) c.363+9286T>G | |
| 6 | g.63720648T= | CA1633380620 | EYS,PHF3 | c.*6940T= (n.*6940T=) c.9383A= (p.Lys3128=) c.9446A= (p.Lys3149=) c.363+9286T= | |
| 6 | g.63720651_63720654del | CA568118965 | EYS,PHF3 | c.*6943_*6946del (n.*6943_*6946del) c.9380_9383del (p.Ile3127AsnfsTer2) c.9443_9446del (p.Ile3148AsnfsTer2) c.363+9289_363+9292del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63720649T>A | CA364382604 | EYS,PHF3 | c.*6941T>A (n.*6941T>A) c.9382A>T (p.Lys3128Ter) c.9445A>T (p.Lys3149Ter) c.363+9287T>A | |
| 6 | g.63720649T>C | CA364382605 | EYS,PHF3 | c.*6941T>C (n.*6941T>C) c.9382A>G (p.Lys3128Glu) c.9445A>G (p.Lys3149Glu) c.363+9287T>C | gnomAD v4 |
| 6 | g.63720649T>G | CA364382606 | EYS,PHF3 | c.*6941T>G (n.*6941T>G) c.9382A>C (p.Lys3128Gln) c.9445A>C (p.Lys3149Gln) c.363+9287T>G | |
| 6 | g.63720650A= | CA1633380622 | EYS,PHF3 | c.*6942A= (n.*6942A=) c.9381T= (p.Ile3127=) c.9444T= (p.Ile3148=) c.363+9288A= | |
| 6 | g.63720650A>C | CA3876668 | EYS,PHF3 | c.*6942A>C (n.*6942A>C) c.9381T>G (p.Ile3127Met) c.9444T>G (p.Ile3148Met) c.363+9288A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63720650A>G | CA450861756 | EYS,PHF3 | c.*6942A>G (n.*6942A>G) c.9381T>C (p.Ile3127=) c.9444T>C (p.Ile3148=) c.363+9288A>G | |
| 6 | g.63720650A>T | CA450861758 | EYS,PHF3 | c.*6942A>T (n.*6942A>T) c.9381T>A (p.Ile3127=) c.9444T>A (p.Ile3148=) c.363+9288A>T | |
| 6 | g.63720651A>C | CA364382609 | EYS,PHF3 | c.*6943A>C (n.*6943A>C) c.9380T>G (p.Ile3127Ser) c.9443T>G (p.Ile3148Ser) c.363+9289A>C | gnomAD v4 |
| 6 | g.63720651A>G | CA364382607 | EYS,PHF3 | c.*6943A>G (n.*6943A>G) c.9380T>C (p.Ile3127Thr) c.9443T>C (p.Ile3148Thr) c.363+9289A>G | |
| 6 | g.63720651A>T | CA364382608 | EYS,PHF3 | c.*6943A>T (n.*6943A>T) c.9380T>A (p.Ile3127Asn) c.9443T>A (p.Ile3148Asn) c.363+9289A>T | |
| 6 | g.63720651_63720655delinsATTAG | CA1633380625 | EYS,PHF3 | c.*6943_*6947delinsATTAG (n.*6943_*6947delinsATTAG) c.9376_9380delinsCTAAT (p.Leu3126=) c.9439_9443delinsCTAAT (p.Leu3147=) c.363+9289_363+9293delinsATTAG | |
| 6 | g.63720652T>A | CA364382610 | EYS,PHF3 | c.*6944T>A (n.*6944T>A) c.9379A>T (p.Ile3127Phe) c.9442A>T (p.Ile3148Phe) c.363+9290T>A | |
| 6 | g.63720652T>C | CA364382611 | EYS,PHF3 | c.*6944T>C (n.*6944T>C) c.9379A>G (p.Ile3127Val) c.9442A>G (p.Ile3148Val) c.363+9290T>C | ClinVar dbSNP gnomAD v4 |
| 6 | g.63720652T>G | CA364382612 | EYS,PHF3 | c.*6944T>G (n.*6944T>G) c.9379A>C (p.Ile3127Leu) c.9442A>C (p.Ile3148Leu) c.363+9290T>G | |
| 6 | g.63720652T= | CA1633380633 | EYS,PHF3 | c.*6944T= (n.*6944T=) c.9379A= (p.Ile3127=) c.9442A= (p.Ile3148=) c.363+9290T= | |
| 6 | g.63720654_63720657del | CA568118937 | EYS,PHF3 | c.*6946_*6949del (n.*6946_*6949del) c.9376_9379del (p.Ile3127AsnfsTer2) c.9439_9442del (p.Ile3148AsnfsTer2) c.363+9292_363+9295del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63720653T>A | CA450861863 | EYS,PHF3 | c.*6945T>A (n.*6945T>A) c.9378A>T (p.Leu3126=) c.9441A>T (p.Leu3147=) c.363+9291T>A | ClinVar dbSNP gnomAD v4 |
| 6 | g.63720653T>C | CA450861862 | EYS,PHF3 | c.*6945T>C (n.*6945T>C) c.9378A>G (p.Leu3126=) c.9441A>G (p.Leu3147=) c.363+9291T>C | |
| 6 | g.63720653T>G | CA450861861 | EYS,PHF3 | c.*6945T>G (n.*6945T>G) c.9378A>C (p.Leu3126=) c.9441A>C (p.Leu3147=) c.363+9291T>G | |
| 6 | g.63720654A>C | CA364382613 | EYS,PHF3 | c.*6946A>C (n.*6946A>C) c.9377T>G (p.Leu3126Arg) c.9440T>G (p.Leu3147Arg) c.363+9292A>C | |
| 6 | g.63720654A>G | CA364382614 | EYS,PHF3 | c.*6946A>G (n.*6946A>G) c.9377T>C (p.Leu3126Pro) c.9440T>C (p.Leu3147Pro) c.363+9292A>G | gnomAD v4 |
| 6 | g.63720654A>T | CA364382615 | EYS,PHF3 | c.*6946A>T (n.*6946A>T) c.9377T>A (p.Leu3126Gln) c.9440T>A (p.Leu3147Gln) c.363+9292A>T | |
| 6 | g.63720655G>A | CA450861874 | EYS,PHF3 | c.*6947G>A (n.*6947G>A) c.9376C>T (p.Leu3126=) c.9439C>T (p.Leu3147=) c.363+9293G>A | |
| 6 | g.63720655G>C | CA364382616 | EYS,PHF3 | c.*6947G>C (n.*6947G>C) c.9376C>G (p.Leu3126Val) c.9439C>G (p.Leu3147Val) c.363+9293G>C | |
| 6 | g.63720655G>T | CA364382617 | EYS,PHF3 | c.*6947G>T (n.*6947G>T) c.9376C>A (p.Leu3126Ile) c.9439C>A (p.Leu3147Ile) c.363+9293G>T | |
| 6 | g.63720656T>A | CA364382618 | EYS,PHF3 | c.*6948T>A (n.*6948T>A) c.9375A>T (p.Glu3125Asp) c.9438A>T (p.Glu3146Asp) c.363+9294T>A | |
| 6 | g.63720656T>C | CA450861875 | EYS,PHF3 | c.*6948T>C (n.*6948T>C) c.9375A>G (p.Glu3125=) c.9438A>G (p.Glu3146=) c.363+9294T>C | |
| 6 | g.63720656T>G | CA364382619 | EYS,PHF3 | c.*6948T>G (n.*6948T>G) c.9375A>C (p.Glu3125Asp) c.9438A>C (p.Glu3146Asp) c.363+9294T>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63720656T= | CA1633380637 | EYS,PHF3 | c.*6948T= (n.*6948T=) c.9375A= (p.Glu3125=) c.9438A= (p.Glu3146=) c.363+9294T= | |
| 6 | g.63720657T>A | CA364382620 | EYS,PHF3 | c.*6949T>A (n.*6949T>A) c.9374A>T (p.Glu3125Val) c.9437A>T (p.Glu3146Val) c.363+9295T>A | |
| 6 | g.63720657T>C | CA364382621 | EYS,PHF3 | c.*6949T>C (n.*6949T>C) c.9374A>G (p.Glu3125Gly) c.9437A>G (p.Glu3146Gly) c.363+9295T>C | |
| 6 | g.63720657T>G | CA364382622 | EYS,PHF3 | c.*6949T>G (n.*6949T>G) c.9374A>C (p.Glu3125Ala) c.9437A>C (p.Glu3146Ala) c.363+9295T>G | |
| 6 | g.63720658C>A | CA364382625 | EYS,PHF3 | c.*6950C>A (n.*6950C>A) c.9373G>T (p.Glu3125Ter) c.9436G>T (p.Glu3146Ter) c.363+9296C>A | |
| 6 | g.63720658C>G | CA364382623 | EYS,PHF3 | c.*6950C>G (n.*6950C>G) c.9373G>C (p.Glu3125Gln) c.9436G>C (p.Glu3146Gln) c.363+9296C>G | |
| 6 | g.63720658C>T | CA364382624 | EYS,PHF3 | c.*6950C>T (n.*6950C>T) c.9373G>A (p.Glu3125Lys) c.9436G>A (p.Glu3146Lys) c.363+9296C>T | |
| 6 | g.63720659A>C | CA364382626 | EYS,PHF3 | c.*6951A>C (n.*6951A>C) c.9372T>G (p.Ile3124Met) c.9435T>G (p.Ile3145Met) c.363+9297A>C | ClinVar dbSNP |
| 6 | g.63720659A>G | CA450861878 | EYS,PHF3 | c.*6951A>G (n.*6951A>G) c.9372T>C (p.Ile3124=) c.9435T>C (p.Ile3145=) c.363+9297A>G | |
| 6 | g.63720659A>T | CA450861879 | EYS,PHF3 | c.*6951A>T (n.*6951A>T) c.9372T>A (p.Ile3124=) c.9435T>A (p.Ile3145=) c.363+9297A>T | |
| 6 | g.63720659_63720665delinsAATGTTT | CA1633380640 | EYS,PHF3 | c.*6951_*6957delinsAATGTTT (n.*6951_*6957delinsAATGTTT) c.9366_9372delinsAAACATT (p.Lys3122=) c.9429_9435delinsAAACATT (p.Lys3143=) c.363+9297_363+9303delinsAATGTTT | |
| 6 | g.63720660A= | CA1633380645 | EYS,PHF3 | c.*6952A= (n.*6952A=) c.9371T= (p.Ile3124=) c.9434T= (p.Ile3145=) c.363+9298A= | |
| 6 | g.63720660A>C | CA364382627 | EYS,PHF3 | c.*6952A>C (n.*6952A>C) c.9371T>G (p.Ile3124Ser) c.9434T>G (p.Ile3145Ser) c.363+9298A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63720660A>G | CA3876669 | EYS,PHF3 | c.*6952A>G (n.*6952A>G) c.9371T>C (p.Ile3124Thr) c.9434T>C (p.Ile3145Thr) c.363+9298A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63720660A>T | CA364382628 | EYS,PHF3 | c.*6952A>T (n.*6952A>T) c.9371T>A (p.Ile3124Asn) c.9434T>A (p.Ile3145Asn) c.363+9298A>T | dbSNP gnomAD v4 |
| 6 | g.63720660_63720665del | CA1633380644 | EYS,PHF3 | c.*6952_*6957del (n.*6952_*6957del) c.9366_9371del (p.Lys3122_Ile3124delinsAsn) c.9429_9434del (p.Lys3143_Ile3145delinsAsn) c.363+9298_363+9303del | dbSNP |
| 6 | g.63720661T>A | CA364382629 | EYS,PHF3 | c.*6953T>A (n.*6953T>A) c.9370A>T (p.Ile3124Phe) c.9433A>T (p.Ile3145Phe) c.363+9299T>A | |
| 6 | g.63720661T>C | CA364382630 | EYS,PHF3 | c.*6953T>C (n.*6953T>C) c.9370A>G (p.Ile3124Val) c.9433A>G (p.Ile3145Val) c.363+9299T>C | |
| 6 | g.63720661T>G | CA364382631 | EYS,PHF3 | c.*6953T>G (n.*6953T>G) c.9370A>C (p.Ile3124Leu) c.9433A>C (p.Ile3145Leu) c.363+9299T>G | |
| 6 | g.63720661_63720662delinsTG | CA1633380650 | EYS,PHF3 | c.*6953_*6954delinsTG (n.*6953_*6954delinsTG) c.9369_9370delinsCA (p.Asn3123=) c.9432_9433delinsCA (p.Asn3144=) c.363+9299_363+9300delinsTG | |
| 6 | g.63720662del | CA568118938 | EYS,PHF3 | c.*6954del (n.*6954del) c.9369del (p.Asn3123LysfsTer4) c.9432del (p.Asn3144LysfsTer4) c.363+9300del | dbSNP gnomAD v2 |
| 6 | g.63720662G>A | CA450861883 | EYS,PHF3 | c.*6954G>A (n.*6954G>A) c.9369C>T (p.Asn3123=) c.9432C>T (p.Asn3144=) c.363+9300G>A | ClinVar dbSNP |
| 6 | g.63720662G>C | CA364382632 | EYS,PHF3 | c.*6954G>C (n.*6954G>C) c.9369C>G (p.Asn3123Lys) c.9432C>G (p.Asn3144Lys) c.363+9300G>C | |
| 6 | g.63720662G>T | CA364382633 | EYS,PHF3 | c.*6954G>T (n.*6954G>T) c.9369C>A (p.Asn3123Lys) c.9432C>A (p.Asn3144Lys) c.363+9300G>T | |
| 6 | g.63720662_63720663delinsGT | CA1633380655 | EYS,PHF3 | c.*6954_*6955delinsGT (n.*6954_*6955delinsGT) c.9368_9369delinsAC (p.Asn3123=) c.9431_9432delinsAC (p.Asn3144=) c.363+9300_363+9301delinsGT | |
| 6 | g.63720663T>A | CA364382634 | EYS,PHF3 | c.*6955T>A (n.*6955T>A) c.9368A>T (p.Asn3123Ile) c.9431A>T (p.Asn3144Ile) c.363+9301T>A | dbSNP gnomAD v4 |
| 6 | g.63720663T>C | CA364382635 | EYS,PHF3 | c.*6955T>C (n.*6955T>C) c.9368A>G (p.Asn3123Ser) c.9431A>G (p.Asn3144Ser) c.363+9301T>C | |
| 6 | g.63720663T>G | CA364382636 | EYS,PHF3 | c.*6955T>G (n.*6955T>G) c.9368A>C (p.Asn3123Thr) c.9431A>C (p.Asn3144Thr) c.363+9301T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63720663T= | CA1633380659 | EYS,PHF3 | c.*6955T= (n.*6955T=) c.9368A= (p.Asn3123=) c.9431A= (p.Asn3144=) c.363+9301T= | |
| 6 | g.63720668dup | CA2573331898 | EYS,PHF3 | c.*6960dup (n.*6960dup) c.9368dup (p.Asn3123LysfsTer3) c.9431dup (p.Asn3144LysfsTer3) c.363+9306dup | gnomAD v4 |
| 6 | g.63720668del | CA1139532716 | EYS,PHF3 | c.*6960del (n.*6960del) c.9368del (p.Asn3123ThrfsTer4) c.9431del (p.Asn3144ThrfsTer4) c.363+9306del | ClinVar dbSNP gnomAD v4 |
| 6 | g.63720664T>A | CA364382637 | EYS,PHF3 | c.*6956T>A (n.*6956T>A) c.9367A>T (p.Asn3123Tyr) c.9430A>T (p.Asn3144Tyr) c.363+9302T>A | |
| 6 | g.63720664T>C | CA364382639 | EYS,PHF3 | c.*6956T>C (n.*6956T>C) c.9367A>G (p.Asn3123Asp) c.9430A>G (p.Asn3144Asp) c.363+9302T>C | |
| 6 | g.63720664T>G | CA364382638 | EYS,PHF3 | c.*6956T>G (n.*6956T>G) c.9367A>C (p.Asn3123His) c.9430A>C (p.Asn3144His) c.363+9302T>G | |
| 6 | g.63720665T>A | CA364382640 | EYS,PHF3 | c.*6957T>A (n.*6957T>A) c.9366A>T (p.Lys3122Asn) c.9429A>T (p.Lys3143Asn) c.363+9303T>A | |
| 6 | g.63720665T>C | CA450861887 | EYS,PHF3 | c.*6957T>C (n.*6957T>C) c.9366A>G (p.Lys3122=) c.9429A>G (p.Lys3143=) c.363+9303T>C | ClinVar dbSNP |
| 6 | g.63720665T>G | CA364382641 | EYS,PHF3 | c.*6957T>G (n.*6957T>G) c.9366A>C (p.Lys3122Asn) c.9429A>C (p.Lys3143Asn) c.363+9303T>G | |
| 6 | g.63720666T>A | CA364382642 | EYS,PHF3 | c.*6958T>A (n.*6958T>A) c.9365A>T (p.Lys3122Ile) c.9428A>T (p.Lys3143Ile) c.363+9304T>A | |
| 6 | g.63720666T>C | CA364382643 | EYS,PHF3 | c.*6958T>C (n.*6958T>C) c.9365A>G (p.Lys3122Arg) c.9428A>G (p.Lys3143Arg) c.363+9304T>C | dbSNP |
| 6 | g.63720666T>G | CA364382644 | EYS,PHF3 | c.*6958T>G (n.*6958T>G) c.9365A>C (p.Lys3122Thr) c.9428A>C (p.Lys3143Thr) c.363+9304T>G | |
| 6 | g.63720666T= | CA1633380667 | EYS,PHF3 | c.*6958T= (n.*6958T=) c.9365A= (p.Lys3122=) c.9428A= (p.Lys3143=) c.363+9304T= | |
| 6 | g.63720666_63720669del | CA2579753969 | EYS,PHF3 | c.*6958_*6961del (n.*6958_*6961del) c.9362_9365del (p.Pro3121GlnfsTer5) c.9425_9428del (p.Pro3142GlnfsTer5) c.363+9304_363+9307del | |
| 6 | g.63720667T>A | CA364382645 | EYS,PHF3 | c.*6959T>A (n.*6959T>A) c.9364A>T (p.Lys3122Ter) c.9427A>T (p.Lys3143Ter) c.363+9305T>A | |
| 6 | g.63720667T>C | CA364382646 | EYS,PHF3 | c.*6959T>C (n.*6959T>C) c.9364A>G (p.Lys3122Glu) c.9427A>G (p.Lys3143Glu) c.363+9305T>C | |
| 6 | g.63720667T>G | CA364382647 | EYS,PHF3 | c.*6959T>G (n.*6959T>G) c.9364A>C (p.Lys3122Gln) c.9427A>C (p.Lys3143Gln) c.363+9305T>G | |
| 6 | g.63720668T>A | CA450861890 | EYS,PHF3 | c.*6960T>A (n.*6960T>A) c.9363A>T (p.Pro3121=) c.9426A>T (p.Pro3142=) c.363+9306T>A | |
| 6 | g.63720668T>C | CA450861892 | EYS,PHF3 | c.*6960T>C (n.*6960T>C) c.9363A>G (p.Pro3121=) c.9426A>G (p.Pro3142=) c.363+9306T>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63720668T>G | CA450861891 | EYS,PHF3 | c.*6960T>G (n.*6960T>G) c.9363A>C (p.Pro3121=) c.9426A>C (p.Pro3142=) c.363+9306T>G | |
| 6 | g.63720668T= | CA1633380671 | EYS,PHF3 | c.*6960T= (n.*6960T=) c.9363A= (p.Pro3121=) c.9426A= (p.Pro3142=) c.363+9306T= | |
| 6 | g.63720669G>A | CA364382648 | EYS,PHF3 | c.*6961G>A (n.*6961G>A) c.9362C>T (p.Pro3121Leu) c.9425C>T (p.Pro3142Leu) c.363+9307G>A | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63720669G>C | CA364382649 | EYS,PHF3 | c.*6961G>C (n.*6961G>C) c.9362C>G (p.Pro3121Arg) c.9425C>G (p.Pro3142Arg) c.363+9307G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63720669G= | CA1633380675 | EYS,PHF3 | c.*6961G= (n.*6961G=) c.9362C= (p.Pro3121=) c.9425C= (p.Pro3142=) c.363+9307G= | |
| 6 | g.63720669G>T | CA364382650 | EYS,PHF3 | c.*6961G>T (n.*6961G>T) c.9362C>A (p.Pro3121Gln) c.9425C>A (p.Pro3142Gln) c.363+9307G>T | gnomAD v4 |
| 6 | g.63720669_63720670insT | CA2841691488 | EYS,PHF3 | c.*6961_*6962insT (n.*6961_*6962insT) c.9361_9362insA (p.Pro3121HisfsTer5) c.9424_9425insA (p.Pro3142HisfsTer5) c.363+9307_363+9308insT | |
| 6 | g.63720670G>A | CA364382651 | EYS,PHF3 | c.*6962G>A (n.*6962G>A) c.9361C>T (p.Pro3121Ser) c.9424C>T (p.Pro3142Ser) c.363+9308G>A | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63720670G>C | CA364382652 | EYS,PHF3 | c.*6962G>C (n.*6962G>C) c.9361C>G (p.Pro3121Ala) c.9424C>G (p.Pro3142Ala) c.363+9308G>C | |
| 6 | g.63720670G= | CA1633380679 | EYS,PHF3 | c.*6962G= (n.*6962G=) c.9361C= (p.Pro3121=) c.9424C= (p.Pro3142=) c.363+9308G= | |
| 6 | g.63720670G>T | CA364382653 | EYS,PHF3 | c.*6962G>T (n.*6962G>T) c.9361C>A (p.Pro3121Thr) c.9424C>A (p.Pro3142Thr) c.363+9308G>T | gnomAD v4 |
| 6 | g.63720671T>A | CA364382654 | EYS,PHF3 | c.*6963T>A (n.*6963T>A) c.9360A>T (p.Glu3120Asp) c.9423A>T (p.Glu3141Asp) c.363+9309T>A | |
| 6 | g.63720671T>C | CA450861894 | EYS,PHF3 | c.*6963T>C (n.*6963T>C) c.9360A>G (p.Glu3120=) c.9423A>G (p.Glu3141=) c.363+9309T>C | |
| 6 | g.63720671T>G | CA364382655 | EYS,PHF3 | c.*6963T>G (n.*6963T>G) c.9360A>C (p.Glu3120Asp) c.9423A>C (p.Glu3141Asp) c.363+9309T>G | gnomAD v4 |
| 6 | g.63720671_63720683del | CA2771457312 | EYS,PHF3 | c.*6963_*6975del (n.*6963_*6975del) c.9348_9360del (p.Phe3117GlnfsTer6) c.9411_9423del (p.Phe3138GlnfsTer6) c.363+9309_363+9321del | |
| 6 | g.63720672T>A | CA364382656 | EYS,PHF3 | c.*6964T>A (n.*6964T>A) c.9359A>T (p.Glu3120Val) c.9422A>T (p.Glu3141Val) c.363+9310T>A | |
| 6 | g.63720672T>C | CA364382657 | EYS,PHF3 | c.*6964T>C (n.*6964T>C) c.9359A>G (p.Glu3120Gly) c.9422A>G (p.Glu3141Gly) c.363+9310T>C | |
| 6 | g.63720672T>G | CA364382658 | EYS,PHF3 | c.*6964T>G (n.*6964T>G) c.9359A>C (p.Glu3120Ala) c.9422A>C (p.Glu3141Ala) c.363+9310T>G | |
| 6 | g.63720673C>A | CA364382659 | EYS,PHF3 | c.*6965C>A (n.*6965C>A) c.9358G>T (p.Glu3120Ter) c.9421G>T (p.Glu3141Ter) c.363+9311C>A | gnomAD v4 |
| 6 | g.63720673C>G | CA364382660 | EYS,PHF3 | c.*6965C>G (n.*6965C>G) c.9358G>C (p.Glu3120Gln) c.9421G>C (p.Glu3141Gln) c.363+9311C>G | |
| 6 | g.63720673C>T | CA364382661 | EYS,PHF3 | c.*6965C>T (n.*6965C>T) c.9358G>A (p.Glu3120Lys) c.9421G>A (p.Glu3141Lys) c.363+9311C>T | gnomAD v4 |
| 6 | g.63720674C>A | CA364382662 | EYS,PHF3 | c.*6966C>A (n.*6966C>A) c.9357G>T (p.Gln3119His) c.9420G>T (p.Gln3140His) c.363+9312C>A | |
| 6 | g.63720674C>G | CA364382663 | EYS,PHF3 | c.*6966C>G (n.*6966C>G) c.9357G>C (p.Gln3119His) c.9420G>C (p.Gln3140His) c.363+9312C>G | |
| 6 | g.63720674C>T | CA450861897 | EYS,PHF3 | c.*6966C>T (n.*6966C>T) c.9357G>A (p.Gln3119=) c.9420G>A (p.Gln3140=) c.363+9312C>T | gnomAD v4 |
| 6 | g.63720675T>A | CA364382664 | EYS,PHF3 | c.*6967T>A (n.*6967T>A) c.9356A>T (p.Gln3119Leu) c.9419A>T (p.Gln3140Leu) c.363+9313T>A | dbSNP |
| 6 | g.63720675T>C | CA364382665 | EYS,PHF3 | c.*6967T>C (n.*6967T>C) c.9356A>G (p.Gln3119Arg) c.9419A>G (p.Gln3140Arg) c.363+9313T>C | gnomAD v4 |
| 6 | g.63720675T>G | CA364382666 | EYS,PHF3 | c.*6967T>G (n.*6967T>G) c.9356A>C (p.Gln3119Pro) c.9419A>C (p.Gln3140Pro) c.363+9313T>G | |
| 6 | g.63720675T= | CA1633380681 | EYS,PHF3 | c.*6967T= (n.*6967T=) c.9356A= (p.Gln3119=) c.9419A= (p.Gln3140=) c.363+9313T= | |
| 6 | g.63720676G>A | CA364382668 | EYS,PHF3 | c.*6968G>A (n.*6968G>A) c.9355C>T (p.Gln3119Ter) c.9418C>T (p.Gln3140Ter) c.363+9314G>A | |
| 6 | g.63720676G>C | CA364382669 | EYS,PHF3 | c.*6968G>C (n.*6968G>C) c.9355C>G (p.Gln3119Glu) c.9418C>G (p.Gln3140Glu) c.363+9314G>C | |
| 6 | g.63720676G= | CA1633380685 | EYS,PHF3 | c.*6968G= (n.*6968G=) c.9355C= (p.Gln3119=) c.9418C= (p.Gln3140=) c.363+9314G= | |
| 6 | g.63720676G>T | CA364382667 | EYS,PHF3 | c.*6968G>T (n.*6968G>T) c.9355C>A (p.Gln3119Lys) c.9418C>A (p.Gln3140Lys) c.363+9314G>T | |
| 6 | g.63720677A>C | CA364382670 | EYS,PHF3 | c.*6969A>C (n.*6969A>C) c.9354T>G (p.Phe3118Leu) c.9417T>G (p.Phe3139Leu) c.363+9315A>C | |
| 6 | g.63720677A>G | CA450861901 | EYS,PHF3 | c.*6969A>G (n.*6969A>G) c.9354T>C (p.Phe3118=) c.9417T>C (p.Phe3139=) c.363+9315A>G | ClinVar dbSNP |
| 6 | g.63720677A>T | CA364382671 | EYS,PHF3 | c.*6969A>T (n.*6969A>T) c.9354T>A (p.Phe3118Leu) c.9417T>A (p.Phe3139Leu) c.363+9315A>T | |
| 6 | g.63720682dup | CA3876670 | EYS,PHF3 | c.*6974dup (n.*6974dup) c.9354dup (p.Gln3119SerfsTer7) c.9417dup (p.Gln3140SerfsTer7) c.363+9320dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63720682del | CA645556694 | EYS,PHF3 | c.*6974del (n.*6974del) c.9354del (p.Gln3119ArgfsTer8) c.9417del (p.Gln3140ArgfsTer8) c.363+9320del | ClinVar dbSNP gnomAD v4 COSMIC |
| 6 | g.63720679_63720682del | CA2679279863 | EYS,PHF3 | c.*6971_*6974del (n.*6971_*6974del) c.9351_9354del (p.Phe3118ArgfsTer8) c.9414_9417del (p.Phe3139ArgfsTer8) c.363+9317_363+9320del | gnomAD v4 |
| 6 | g.63720678A>C | CA364382672 | EYS,PHF3 | c.*6970A>C (n.*6970A>C) c.9353T>G (p.Phe3118Cys) c.9416T>G (p.Phe3139Cys) c.363+9316A>C | |
| 6 | g.63720678A>G | CA364382673 | EYS,PHF3 | c.*6970A>G (n.*6970A>G) c.9353T>C (p.Phe3118Ser) c.9416T>C (p.Phe3139Ser) c.363+9316A>G | |
| 6 | g.63720678A>T | CA364382674 | EYS,PHF3 | c.*6970A>T (n.*6970A>T) c.9353T>A (p.Phe3118Tyr) c.9416T>A (p.Phe3139Tyr) c.363+9316A>T | |
| 6 | g.63720679A= | CA1633380697 | EYS,PHF3 | c.*6971A= (n.*6971A=) c.9352T= (p.Phe3118=) c.9415T= (p.Phe3139=) c.363+9317A= | |
| 6 | g.63720679A>C | CA364382676 | EYS,PHF3 | c.*6971A>C (n.*6971A>C) c.9352T>G (p.Phe3118Val) c.9415T>G (p.Phe3139Val) c.363+9317A>C | |
| 6 | g.63720679A>G | CA140236782 | EYS,PHF3 | c.*6971A>G (n.*6971A>G) c.9352T>C (p.Phe3118Leu) c.9415T>C (p.Phe3139Leu) c.363+9317A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63720679A>T | CA364382675 | EYS,PHF3 | c.*6971A>T (n.*6971A>T) c.9352T>A (p.Phe3118Ile) c.9415T>A (p.Phe3139Ile) c.363+9317A>T | |
| 6 | g.63720680A>C | CA364382677 | EYS,PHF3 | c.*6972A>C (n.*6972A>C) c.9351T>G (p.Phe3117Leu) c.9414T>G (p.Phe3138Leu) c.363+9318A>C | |
| 6 | g.63720680A>G | CA450861904 | EYS,PHF3 | c.*6972A>G (n.*6972A>G) c.9351T>C (p.Phe3117=) c.9414T>C (p.Phe3138=) c.363+9318A>G | |
| 6 | g.63720680A>T | CA364382678 | EYS,PHF3 | c.*6972A>T (n.*6972A>T) c.9351T>A (p.Phe3117Leu) c.9414T>A (p.Phe3138Leu) c.363+9318A>T | |
| 6 | g.63720681A>C | CA364382679 | EYS,PHF3 | c.*6973A>C (n.*6973A>C) c.9350T>G (p.Phe3117Cys) c.9413T>G (p.Phe3138Cys) c.363+9319A>C | |
| 6 | g.63720681A>G | CA364382680 | EYS,PHF3 | c.*6973A>G (n.*6973A>G) c.9350T>C (p.Phe3117Ser) c.9413T>C (p.Phe3138Ser) c.363+9319A>G | |
| 6 | g.63720681A>T | CA364382681 | EYS,PHF3 | c.*6973A>T (n.*6973A>T) c.9350T>A (p.Phe3117Tyr) c.9413T>A (p.Phe3138Tyr) c.363+9319A>T | |
| 6 | g.63720684_63720697del | CA2679279864 | EYS,PHF3 | c.*6976_*6989del (n.*6976_*6989del) c.9337_9350del (p.Lys3113PhefsTer8) c.9400_9413del (p.Lys3134PhefsTer8) c.363+9322_363+9335del | ClinVar gnomAD v4 |
| 6 | g.63720682A>C | CA364382682 | EYS,PHF3 | c.*6974A>C (n.*6974A>C) c.9349T>G (p.Phe3117Val) c.9412T>G (p.Phe3138Val) c.363+9320A>C | |
| 6 | g.63720682A>G | CA364382684 | EYS,PHF3 | c.*6974A>G (n.*6974A>G) c.9349T>C (p.Phe3117Leu) c.9412T>C (p.Phe3138Leu) c.363+9320A>G | |
| 6 | g.63720682A>T | CA364382683 | EYS,PHF3 | c.*6974A>T (n.*6974A>T) c.9349T>A (p.Phe3117Ile) c.9412T>A (p.Phe3138Ile) c.363+9320A>T | gnomAD v4 |
| 6 | g.63720683_63720684del | CA2544153935 | EYS,PHF3 | c.*6975_*6976del (n.*6975_*6976del) c.9348_9349del (p.Phe3118SerfsTer7) c.9411_9412del (p.Phe3139SerfsTer7) c.363+9321_363+9322del | |
| 6 | g.63720683del | CA2679279865 | EYS,PHF3 | c.*6975del (n.*6975del) c.9348del (p.Gln3119ArgfsTer8) c.9411del (p.Gln3140ArgfsTer8) c.363+9321del | gnomAD v4 |
| 6 | g.63720683T>A | CA450861909 | EYS,PHF3 | c.*6975T>A (n.*6975T>A) c.9348A>T (p.Val3116=) c.9411A>T (p.Val3137=) c.363+9321T>A | |
| 6 | g.63720683T>C | CA450861910 | EYS,PHF3 | c.*6975T>C (n.*6975T>C) c.9348A>G (p.Val3116=) c.9411A>G (p.Val3137=) c.363+9321T>C | ClinVar dbSNP gnomAD v2 |
| 6 | g.63720683T>G | CA450861911 | EYS,PHF3 | c.*6975T>G (n.*6975T>G) c.9348A>C (p.Val3116=) c.9411A>C (p.Val3137=) c.363+9321T>G | |
| 6 | g.63720683T= | CA1633380703 | EYS,PHF3 | c.*6975T= (n.*6975T=) c.9348A= (p.Val3116=) c.9411A= (p.Val3137=) c.363+9321T= | |
| 6 | g.63720683_63720686delinsTACA | CA1633380701 | EYS,PHF3 | c.*6975_*6978delinsTACA (n.*6975_*6978delinsTACA) c.9345_9348delinsTGTA (p.Val3115=) c.9408_9411delinsTGTA (p.Val3136=) c.363+9321_363+9324delinsTACA | |
| 6 | g.63720684A= | CA1633380709 | EYS,PHF3 | c.*6976A= (n.*6976A=) c.9347T= (p.Val3116=) c.9410T= (p.Val3137=) c.363+9322A= | |
| 6 | g.63720684A>C | CA364382685 | EYS,PHF3 | c.*6976A>C (n.*6976A>C) c.9347T>G (p.Val3116Gly) c.9410T>G (p.Val3137Gly) c.363+9322A>C | |
| 6 | g.63720684A>G | CA364382686 | EYS,PHF3 | c.*6976A>G (n.*6976A>G) c.9347T>C (p.Val3116Ala) c.9410T>C (p.Val3137Ala) c.363+9322A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63720684A>T | CA364382687 | EYS,PHF3 | c.*6976A>T (n.*6976A>T) c.9347T>A (p.Val3116Glu) c.9410T>A (p.Val3137Glu) c.363+9322A>T | |
| 6 | g.63720687_63720689del | CA3876671 | EYS,PHF3 | c.*6979_*6981del (n.*6979_*6981del) c.9345_9347del (p.Val3116del) c.9408_9410del (p.Val3137del) c.363+9325_363+9327del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.63720684_63720685insAGT | CA2771457313 | EYS,PHF3 | c.*6976_*6977insAGT (n.*6976_*6977insAGT) c.9346_9347insACT (p.Val3116delinsAspLeu) c.9409_9410insACT (p.Val3137delinsAspLeu) c.363+9322_363+9323insAGT | |
| 6 | g.63720685C>A | CA364382688 | EYS,PHF3 | c.*6977C>A (n.*6977C>A) c.9346G>T (p.Val3116Leu) c.9409G>T (p.Val3137Leu) c.363+9323C>A | gnomAD v4 |
| 6 | g.63720685C= | CA1633380713 | EYS,PHF3 | c.*6977C= (n.*6977C=) c.9346G= (p.Val3116=) c.9409G= (p.Val3137=) c.363+9323C= | |
| 6 | g.63720685C>G | CA364382689 | EYS,PHF3 | c.*6977C>G (n.*6977C>G) c.9346G>C (p.Val3116Leu) c.9409G>C (p.Val3137Leu) c.363+9323C>G | ClinVar |
| 6 | g.63720685C>T | CA364382690 | EYS,PHF3 | c.*6977C>T (n.*6977C>T) c.9346G>A (p.Val3116Ile) c.9409G>A (p.Val3137Ile) c.363+9323C>T | dbSNP gnomAD v4 |
| 6 | g.63720686A= | CA1633380718 | EYS,PHF3 | c.*6978A= (n.*6978A=) c.9345T= (p.Val3115=) c.9408T= (p.Val3136=) c.363+9324A= | |
| 6 | g.63720686A>C | CA450861916 | EYS,PHF3 | c.*6978A>C (n.*6978A>C) c.9345T>G (p.Val3115=) c.9408T>G (p.Val3136=) c.363+9324A>C | |
| 6 | g.63720686A>G | CA450861917 | EYS,PHF3 | c.*6978A>G (n.*6978A>G) c.9345T>C (p.Val3115=) c.9408T>C (p.Val3136=) c.363+9324A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63720686A>T | CA450861915 | EYS,PHF3 | c.*6978A>T (n.*6978A>T) c.9345T>A (p.Val3115=) c.9408T>A (p.Val3136=) c.363+9324A>T | |
| 6 | g.63720687del | CA2530674052 | EYS,PHF3 | c.*6979del (n.*6979del) c.9345del (p.Val3116TyrfsTer11) c.9408del (p.Val3137TyrfsTer11) c.363+9325del | |
| 6 | g.63720687A= | CA1633380721 | EYS,PHF3 | c.*6979A= (n.*6979A=) c.9344T= (p.Val3115=) c.9407T= (p.Val3136=) c.363+9325A= | |
| 6 | g.63720687A>C | CA364382691 | EYS,PHF3 | c.*6979A>C (n.*6979A>C) c.9344T>G (p.Val3115Gly) c.9407T>G (p.Val3136Gly) c.363+9325A>C | |
| 6 | g.63720687A>G | CA364382692 | EYS,PHF3 | c.*6979A>G (n.*6979A>G) c.9344T>C (p.Val3115Ala) c.9407T>C (p.Val3136Ala) c.363+9325A>G | dbSNP gnomAD v4 |
| 6 | g.63720687A>T | CA140236783 | EYS,PHF3 | c.*6979A>T (n.*6979A>T) c.9344T>A (p.Val3115Asp) c.9407T>A (p.Val3136Asp) c.363+9325A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63720688C>A | CA364382695 | EYS,PHF3 | c.*6980C>A (n.*6980C>A) c.9343G>T (p.Val3115Phe) c.9406G>T (p.Val3136Phe) c.363+9326C>A | |
| 6 | g.63720688C>G | CA364382694 | EYS,PHF3 | c.*6980C>G (n.*6980C>G) c.9343G>C (p.Val3115Leu) c.9406G>C (p.Val3136Leu) c.363+9326C>G | |
| 6 | g.63720688C>T | CA364382693 | EYS,PHF3 | c.*6980C>T (n.*6980C>T) c.9343G>A (p.Val3115Ile) c.9406G>A (p.Val3136Ile) c.363+9326C>T | |
| 6 | g.63720689A= | CA1633380727 | EYS,PHF3 | c.*6981A= (n.*6981A=) c.9342T= (p.Asp3114=) c.9405T= (p.Asp3135=) c.363+9327A= | |
| 6 | g.63720689A>C | CA364382696 | EYS,PHF3 | c.*6981A>C (n.*6981A>C) c.9342T>G (p.Asp3114Glu) c.9405T>G (p.Asp3135Glu) c.363+9327A>C | |
| 6 | g.63720689A>G | CA450861920 | EYS,PHF3 | c.*6981A>G (n.*6981A>G) c.9342T>C (p.Asp3114=) c.9405T>C (p.Asp3135=) c.363+9327A>G | |
| 6 | g.63720689A>T | CA364382697 | EYS,PHF3 | c.*6981A>T (n.*6981A>T) c.9342T>A (p.Asp3114Glu) c.9405T>A (p.Asp3135Glu) c.363+9327A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63720689_63720692del | CA2679279866 | EYS,PHF3 | c.*6981_*6984del (n.*6981_*6984del) c.9339_9342del (p.Asp3114LeufsTer12) c.9402_9405del (p.Asp3135LeufsTer12) c.363+9327_363+9330del | gnomAD v4 |
| 6 | g.63720690T>A | CA364382698 | EYS,PHF3 | c.*6982T>A (n.*6982T>A) c.9341A>T (p.Asp3114Val) c.9404A>T (p.Asp3135Val) c.363+9328T>A | |
| 6 | g.63720690T>C | CA364382699 | EYS,PHF3 | c.*6982T>C (n.*6982T>C) c.9341A>G (p.Asp3114Gly) c.9404A>G (p.Asp3135Gly) c.363+9328T>C | |
| 6 | g.63720690T>G | CA364382700 | EYS,PHF3 | c.*6982T>G (n.*6982T>G) c.9341A>C (p.Asp3114Ala) c.9404A>C (p.Asp3135Ala) c.363+9328T>G | |
| 6 | g.63720691C>A | CA364382701 | EYS,PHF3 | c.*6983C>A (n.*6983C>A) c.9340G>T (p.Asp3114Tyr) c.9403G>T (p.Asp3135Tyr) c.363+9329C>A | gnomAD v4 |
| 6 | g.63720691C= | CA1633380729 | EYS,PHF3 | c.*6983C= (n.*6983C=) c.9340G= (p.Asp3114=) c.9403G= (p.Asp3135=) c.363+9329C= | |
| 6 | g.63720691C>G | CA364382702 | EYS,PHF3 | c.*6983C>G (n.*6983C>G) c.9340G>C (p.Asp3114His) c.9403G>C (p.Asp3135His) c.363+9329C>G | dbSNP gnomAD v4 |
| 6 | g.63720691C>T | CA364382703 | EYS,PHF3 | c.*6983C>T (n.*6983C>T) c.9340G>A (p.Asp3114Asn) c.9403G>A (p.Asp3135Asn) c.363+9329C>T | |
| 6 | g.63720692T>A | CA364382704 | EYS,PHF3 | c.*6984T>A (n.*6984T>A) c.9339A>T (p.Lys3113Asn) c.9402A>T (p.Lys3134Asn) c.363+9330T>A | |
| 6 | g.63720692T>C | CA450861922 | EYS,PHF3 | c.*6984T>C (n.*6984T>C) c.9339A>G (p.Lys3113=) c.9402A>G (p.Lys3134=) c.363+9330T>C | |
| 6 | g.63720692T>G | CA364382705 | EYS,PHF3 | c.*6984T>G (n.*6984T>G) c.9339A>C (p.Lys3113Asn) c.9402A>C (p.Lys3134Asn) c.363+9330T>G | |
| 6 | g.63720694dup | CA2573141289 | EYS,PHF3 | c.*6986dup (n.*6986dup) c.9339dup (p.Asp3114ArgfsTer12) c.9402dup (p.Asp3135ArgfsTer12) c.363+9332dup | ClinVar dbSNP |
| 6 | g.63720693T>A | CA364382706 | EYS,PHF3 | c.*6985T>A (n.*6985T>A) c.9338A>T (p.Lys3113Ile) c.9401A>T (p.Lys3134Ile) c.363+9331T>A | |
| 6 | g.63720693T>C | CA364382707 | EYS,PHF3 | c.*6985T>C (n.*6985T>C) c.9338A>G (p.Lys3113Arg) c.9401A>G (p.Lys3134Arg) c.363+9331T>C | ClinVar dbSNP gnomAD v4 |
| 6 | g.63720693T>G | CA364382708 | EYS,PHF3 | c.*6985T>G (n.*6985T>G) c.9338A>C (p.Lys3113Thr) c.9401A>C (p.Lys3134Thr) c.363+9331T>G | |
| 6 | g.63720693T= | CA1633380734 | EYS,PHF3 | c.*6985T= (n.*6985T=) c.9338A= (p.Lys3113=) c.9401A= (p.Lys3134=) c.363+9331T= | |
| 6 | g.63720694T>A | CA364382709 | EYS,PHF3 | c.*6986T>A (n.*6986T>A) c.9337A>T (p.Lys3113Ter) c.9400A>T (p.Lys3134Ter) c.363+9332T>A | |
| 6 | g.63720694T>C | CA364382710 | EYS,PHF3 | c.*6986T>C (n.*6986T>C) c.9337A>G (p.Lys3113Glu) c.9400A>G (p.Lys3134Glu) c.363+9332T>C | gnomAD v4 |
| 6 | g.63720694T>G | CA364382711 | EYS,PHF3 | c.*6986T>G (n.*6986T>G) c.9337A>C (p.Lys3113Gln) c.9400A>C (p.Lys3134Gln) c.363+9332T>G | |
| 6 | g.63720694_63720714delinsTAATTTTGCCAACAAAATTGG | CA1633380742 | EYS,PHF3 | c.*6986_*7006delinsTAATTTTGCCAACAAAATTGG (n.*6986_*7006delinsTAATTTTGCCAACAAAATTGG) c.9317_9337delinsCCAATTTTGTTGGCAAAATTA (p.Thr3106=) c.9380_9400delinsCCAATTTTGTTGGCAAAATTA (p.Thr3127=) c.363+9332_363+9352delinsTAATTTTGCCAACAAAATTGG | |
| 6 | g.63720695_63720715del | CA913111491 | EYS,PHF3 | c.*6987_*7007del (n.*6987_*7007del) c.9317_9337del (p.Thr3106_Ile3112del) c.9380_9400del (p.Thr3127_Ile3133del) c.363+9333_363+9353del | |
| 6 | g.63720695A>C | CA364382712 | EYS,PHF3 | c.*6987A>C (n.*6987A>C) c.9336T>G (p.Ile3112Met) c.9399T>G (p.Ile3133Met) c.363+9333A>C | |
| 6 | g.63720695A>G | CA450861924 | EYS,PHF3 | c.*6987A>G (n.*6987A>G) c.9336T>C (p.Ile3112=) c.9399T>C (p.Ile3133=) c.363+9333A>G | ClinVar dbSNP |
| 6 | g.63720695A>T | CA450861925 | EYS,PHF3 | c.*6987A>T (n.*6987A>T) c.9336T>A (p.Ile3112=) c.9399T>A (p.Ile3133=) c.363+9333A>T | |
| 6 | g.63720695_63720714del | CA568118939 | EYS,PHF3 | c.*6987_*7006del (n.*6987_*7006del) c.9317_9336del (p.Thr3106LysfsTer13) c.9380_9399del (p.Thr3127LysfsTer13) c.363+9333_363+9352del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63720696A>C | CA364382713 | EYS,PHF3 | c.*6988A>C (n.*6988A>C) c.9335T>G (p.Ile3112Ser) c.9398T>G (p.Ile3133Ser) c.363+9334A>C | |
| 6 | g.63720696A>G | CA364382714 | EYS,PHF3 | c.*6988A>G (n.*6988A>G) c.9335T>C (p.Ile3112Thr) c.9398T>C (p.Ile3133Thr) c.363+9334A>G | |
| 6 | g.63720696A>T | CA364382715 | EYS,PHF3 | c.*6988A>T (n.*6988A>T) c.9335T>A (p.Ile3112Asn) c.9398T>A (p.Ile3133Asn) c.363+9334A>T | |
| 6 | g.63720696_63720698delinsATT | CA1633380753 | EYS,PHF3 | c.*6988_*6990delinsATT (n.*6988_*6990delinsATT) c.9333_9335delinsAAT (p.Lys3111=) c.9396_9398delinsAAT (p.Lys3132=) c.363+9334_363+9336delinsATT | |
| 6 | g.63720697T>A | CA364382716 | EYS,PHF3 | c.*6989T>A (n.*6989T>A) c.9334A>T (p.Ile3112Phe) c.9397A>T (p.Ile3133Phe) c.363+9335T>A | |
| 6 | g.63720697T>C | CA364382717 | EYS,PHF3 | c.*6989T>C (n.*6989T>C) c.9334A>G (p.Ile3112Val) c.9397A>G (p.Ile3133Val) c.363+9335T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63720697T>G | CA364382718 | EYS,PHF3 | c.*6989T>G (n.*6989T>G) c.9334A>C (p.Ile3112Leu) c.9397A>C (p.Ile3133Leu) c.363+9335T>G | |
| 6 | g.63720697T= | CA1633380758 | EYS,PHF3 | c.*6989T= (n.*6989T=) c.9334A= (p.Ile3112=) c.9397A= (p.Ile3133=) c.363+9335T= | |
| 6 | g.63720699_63720700del | CA568118940 | EYS,PHF3 | c.*6991_*6992del (n.*6991_*6992del) c.9333_9334del (p.Lys3111AsnfsTer2) c.9396_9397del (p.Lys3132AsnfsTer2) c.363+9337_363+9338del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63720698T>A | CA364382719 | EYS,PHF3 | c.*6990T>A (n.*6990T>A) c.9333A>T (p.Lys3111Asn) c.9396A>T (p.Lys3132Asn) c.363+9336T>A | |
| 6 | g.63720698T>C | CA450861929 | EYS,PHF3 | c.*6990T>C (n.*6990T>C) c.9333A>G (p.Lys3111=) c.9396A>G (p.Lys3132=) c.363+9336T>C | |
| 6 | g.63720698T>G | CA364382720 | EYS,PHF3 | c.*6990T>G (n.*6990T>G) c.9333A>C (p.Lys3111Asn) c.9396A>C (p.Lys3132Asn) c.363+9336T>G | |
| 6 | g.63720699T>A | CA364382721 | EYS,PHF3 | c.*6991T>A (n.*6991T>A) c.9332A>T (p.Lys3111Ile) c.9395A>T (p.Lys3132Ile) c.363+9337T>A | |
| 6 | g.63720699T>C | CA364382722 | EYS,PHF3 | c.*6991T>C (n.*6991T>C) c.9332A>G (p.Lys3111Arg) c.9395A>G (p.Lys3132Arg) c.363+9337T>C | |
| 6 | g.63720699T>G | CA364382723 | EYS,PHF3 | c.*6991T>G (n.*6991T>G) c.9332A>C (p.Lys3111Thr) c.9395A>C (p.Lys3132Thr) c.363+9337T>G | |
| 6 | g.63720700T>A | CA364382724 | EYS,PHF3 | c.*6992T>A (n.*6992T>A) c.9331A>T (p.Lys3111Ter) c.9394A>T (p.Lys3132Ter) c.363+9338T>A | |
| 6 | g.63720700T>C | CA364382725 | EYS,PHF3 | c.*6992T>C (n.*6992T>C) c.9331A>G (p.Lys3111Glu) c.9394A>G (p.Lys3132Glu) c.363+9338T>C | |
| 6 | g.63720700T>G | CA364382726 | EYS,PHF3 | c.*6992T>G (n.*6992T>G) c.9331A>C (p.Lys3111Gln) c.9394A>C (p.Lys3132Gln) c.363+9338T>G | |
| 6 | g.63720701G>A | CA450861933 | EYS,PHF3 | c.*6993G>A (n.*6993G>A) c.9330C>T (p.Gly3110=) c.9393C>T (p.Gly3131=) c.363+9339G>A | gnomAD v4 |
| 6 | g.63720701G>C | CA450861931 | EYS,PHF3 | c.*6993G>C (n.*6993G>C) c.9330C>G (p.Gly3110=) c.9393C>G (p.Gly3131=) c.363+9339G>C | |
| 6 | g.63720701G>T | CA450861932 | EYS,PHF3 | c.*6993G>T (n.*6993G>T) c.9330C>A (p.Gly3110=) c.9393C>A (p.Gly3131=) c.363+9339G>T | gnomAD v4 |
| 6 | g.63720702C>A | CA364382727 | EYS,PHF3 | c.*6994C>A (n.*6994C>A) c.9329G>T (p.Gly3110Val) c.9392G>T (p.Gly3131Val) c.363+9340C>A | |
| 6 | g.63720702C= | CA1633380761 | EYS,PHF3 | c.*6994C= (n.*6994C=) c.9329G= (p.Gly3110=) c.9392G= (p.Gly3131=) c.363+9340C= | |
| 6 | g.63720702C>G | CA364382729 | EYS,PHF3 | c.*6994C>G (n.*6994C>G) c.9329G>C (p.Gly3110Ala) c.9392G>C (p.Gly3131Ala) c.363+9340C>G | ClinVar dbSNP |
| 6 | g.63720702C>T | CA364382728 | EYS,PHF3 | c.*6994C>T (n.*6994C>T) c.9329G>A (p.Gly3110Asp) c.9392G>A (p.Gly3131Asp) c.363+9340C>T | ClinVar dbSNP gnomAD v4 |
| 6 | g.63720703C>A | CA364382730 | EYS,PHF3 | c.*6995C>A (n.*6995C>A) c.9328G>T (p.Gly3110Cys) c.9391G>T (p.Gly3131Cys) c.363+9341C>A | |
| 6 | g.63720703C= | CA1633380766 | EYS,PHF3 | c.*6995C= (n.*6995C=) c.9328G= (p.Gly3110=) c.9391G= (p.Gly3131=) c.363+9341C= | |
| 6 | g.63720703C>G | CA364382731 | EYS,PHF3 | c.*6995C>G (n.*6995C>G) c.9328G>C (p.Gly3110Arg) c.9391G>C (p.Gly3131Arg) c.363+9341C>G | dbSNP |
| 6 | g.63720703C>T | CA364382732 | EYS,PHF3 | c.*6995C>T (n.*6995C>T) c.9328G>A (p.Gly3110Ser) c.9391G>A (p.Gly3131Ser) c.363+9341C>T | gnomAD v4 |
| 6 | g.63720704A= | CA1633380768 | EYS,PHF3 | c.*6996A= (n.*6996A=) c.9327T= (p.Val3109=) c.9390T= (p.Val3130=) c.363+9342A= | |
| 6 | g.63720704A>C | CA450861934 | EYS,PHF3 | c.*6996A>C (n.*6996A>C) c.9327T>G (p.Val3109=) c.9390T>G (p.Val3130=) c.363+9342A>C | |
| 6 | g.63720704A>G | CA450861935 | EYS,PHF3 | c.*6996A>G (n.*6996A>G) c.9327T>C (p.Val3109=) c.9390T>C (p.Val3130=) c.363+9342A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63720704A>T | CA450861936 | EYS,PHF3 | c.*6996A>T (n.*6996A>T) c.9327T>A (p.Val3109=) c.9390T>A (p.Val3130=) c.363+9342A>T | |
| 6 | g.63720705A>C | CA364382733 | EYS,PHF3 | c.*6997A>C (n.*6997A>C) c.9326T>G (p.Val3109Gly) c.9389T>G (p.Val3130Gly) c.363+9343A>C | |
| 6 | g.63720705A>G | CA364382734 | EYS,PHF3 | c.*6997A>G (n.*6997A>G) c.9326T>C (p.Val3109Ala) c.9389T>C (p.Val3130Ala) c.363+9343A>G | |
| 6 | g.63720705A>T | CA364382735 | EYS,PHF3 | c.*6997A>T (n.*6997A>T) c.9326T>A (p.Val3109Asp) c.9389T>A (p.Val3130Asp) c.363+9343A>T | |
| 6 | g.63720705_63720707delinsCC | CA2695198245 | EYS,PHF3 | c.*6997_*6999delinsCC (n.*6997_*6999delinsCC) c.9324_9326delinsGG (p.Phe3108LeufsTer19) c.9387_9389delinsGG (p.Phe3129LeufsTer19) c.363+9343_363+9345delinsCC | ClinVar |
| 6 | g.63720706C>A | CA364382738 | EYS,PHF3 | c.*6998C>A (n.*6998C>A) c.9325G>T (p.Val3109Phe) c.9388G>T (p.Val3130Phe) c.363+9344C>A | |
| 6 | g.63720706C= | CA1633380770 | EYS,PHF3 | c.*6998C= (n.*6998C=) c.9325G= (p.Val3109=) c.9388G= (p.Val3130=) c.363+9344C= | |
| 6 | g.63720706C>G | CA364382736 | EYS,PHF3 | c.*6998C>G (n.*6998C>G) c.9325G>C (p.Val3109Leu) c.9388G>C (p.Val3130Leu) c.363+9344C>G | |
| 6 | g.63720706C>T | CA364382737 | EYS,PHF3 | c.*6998C>T (n.*6998C>T) c.9325G>A (p.Val3109Ile) c.9388G>A (p.Val3130Ile) c.363+9344C>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63720707A= | CA1633380772 | EYS,PHF3 | c.*6999A= (n.*6999A=) c.9324T= (p.Phe3108=) c.9387T= (p.Phe3129=) c.363+9345A= | |
| 6 | g.63720707A>C | CA364382739 | EYS,PHF3 | c.*6999A>C (n.*6999A>C) c.9324T>G (p.Phe3108Leu) c.9387T>G (p.Phe3129Leu) c.363+9345A>C | |
| 6 | g.63720707A>G | CA450861938 | EYS,PHF3 | c.*6999A>G (n.*6999A>G) c.9324T>C (p.Phe3108=) c.9387T>C (p.Phe3129=) c.363+9345A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63720707A>T | CA364382740 | EYS,PHF3 | c.*6999A>T (n.*6999A>T) c.9324T>A (p.Phe3108Leu) c.9387T>A (p.Phe3129Leu) c.363+9345A>T | |
| 6 | g.63720708A= | CA1633380774 | EYS,PHF3 | c.*7000A= (n.*7000A=) c.9323T= (p.Phe3108=) c.9386T= (p.Phe3129=) c.363+9346A= | |
| 6 | g.63720708A>C | CA364382741 | EYS,PHF3 | c.*7000A>C (n.*7000A>C) c.9323T>G (p.Phe3108Cys) c.9386T>G (p.Phe3129Cys) c.363+9346A>C | |
| 6 | g.63720708A>G | CA364382742 | EYS,PHF3 | c.*7000A>G (n.*7000A>G) c.9323T>C (p.Phe3108Ser) c.9386T>C (p.Phe3129Ser) c.363+9346A>G | |
| 6 | g.63720708A>T | CA140236784 | EYS,PHF3 | c.*7000A>T (n.*7000A>T) c.9323T>A (p.Phe3108Tyr) c.9386T>A (p.Phe3129Tyr) c.363+9346A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63720709A>C | CA364382743 | EYS,PHF3 | c.*7001A>C (n.*7001A>C) c.9322T>G (p.Phe3108Val) c.9385T>G (p.Phe3129Val) c.363+9347A>C | gnomAD v4 |
| 6 | g.63720709A>G | CA364382745 | EYS,PHF3 | c.*7001A>G (n.*7001A>G) c.9322T>C (p.Phe3108Leu) c.9385T>C (p.Phe3129Leu) c.363+9347A>G | |
| 6 | g.63720709A>T | CA364382744 | EYS,PHF3 | c.*7001A>T (n.*7001A>T) c.9322T>A (p.Phe3108Ile) c.9385T>A (p.Phe3129Ile) c.363+9347A>T | |
| 6 | g.63720710A>C | CA364382746 | EYS,PHF3 | c.*7002A>C (n.*7002A>C) c.9321T>G (p.Asn3107Lys) c.9384T>G (p.Asn3128Lys) c.363+9348A>C | |
| 6 | g.63720710A>G | CA450861942 | EYS,PHF3 | c.*7002A>G (n.*7002A>G) c.9321T>C (p.Asn3107=) c.9384T>C (p.Asn3128=) c.363+9348A>G | ClinVar |
| 6 | g.63720710A>T | CA364382747 | EYS,PHF3 | c.*7002A>T (n.*7002A>T) c.9321T>A (p.Asn3107Lys) c.9384T>A (p.Asn3128Lys) c.363+9348A>T | |
| 6 | g.63720711T>A | CA364382748 | EYS,PHF3 | c.*7003T>A (n.*7003T>A) c.9320A>T (p.Asn3107Ile) c.9383A>T (p.Asn3128Ile) c.363+9349T>A | gnomAD v4 |
| 6 | g.63720711T>C | CA364382749 | EYS,PHF3 | c.*7003T>C (n.*7003T>C) c.9320A>G (p.Asn3107Ser) c.9383A>G (p.Asn3128Ser) c.363+9349T>C | |
| 6 | g.63720711T>G | CA364382750 | EYS,PHF3 | c.*7003T>G (n.*7003T>G) c.9320A>C (p.Asn3107Thr) c.9383A>C (p.Asn3128Thr) c.363+9349T>G | |
| 6 | g.63720712T>A | CA364382751 | EYS,PHF3 | c.*7004T>A (n.*7004T>A) c.9319A>T (p.Asn3107Tyr) c.9382A>T (p.Asn3128Tyr) c.363+9350T>A | |
| 6 | g.63720712T>C | CA364382752 | EYS,PHF3 | c.*7004T>C (n.*7004T>C) c.9319A>G (p.Asn3107Asp) c.9382A>G (p.Asn3128Asp) c.363+9350T>C | |
| 6 | g.63720712T>G | CA364382753 | EYS,PHF3 | c.*7004T>G (n.*7004T>G) c.9319A>C (p.Asn3107His) c.9382A>C (p.Asn3128His) c.363+9350T>G | |
| 6 | g.63720712_63720713del | CA2508577754 | EYS,PHF3 | c.*7004_*7005del (n.*7004_*7005del) c.9318_9319del (p.Asn3107PhefsTer6) c.9381_9382del (p.Asn3128PhefsTer6) c.363+9350_363+9351del | |
| 6 | g.63720713G>A | CA450861946 | EYS,PHF3 | c.*7005G>A (n.*7005G>A) c.9318C>T (p.Thr3106=) c.9381C>T (p.Thr3127=) c.363+9351G>A | |
| 6 | g.63720713G>C | CA450861947 | EYS,PHF3 | c.*7005G>C (n.*7005G>C) c.9318C>G (p.Thr3106=) c.9381C>G (p.Thr3127=) c.363+9351G>C | |
| 6 | g.63720713G>T | CA450861948 | EYS,PHF3 | c.*7005G>T (n.*7005G>T) c.9318C>A (p.Thr3106=) c.9381C>A (p.Thr3127=) c.363+9351G>T | |
| 6 | g.63720714del | CA2578659637 | EYS,PHF3 | c.*7006del (n.*7006del) c.9318del (p.Asn3107IlefsTer20) c.9381del (p.Asn3128IlefsTer20) c.363+9352del | |
| 6 | g.63720714G>A | CA364382754 | EYS,PHF3 | c.*7006G>A (n.*7006G>A) c.9317C>T (p.Thr3106Ile) c.9380C>T (p.Thr3127Ile) c.363+9352G>A | dbSNP |
| 6 | g.63720714G>C | CA364382755 | EYS,PHF3 | c.*7006G>C (n.*7006G>C) c.9317C>G (p.Thr3106Ser) c.9380C>G (p.Thr3127Ser) c.363+9352G>C | |
| 6 | g.63720714G= | CA1633380780 | EYS,PHF3 | c.*7006G= (n.*7006G=) c.9317C= (p.Thr3106=) c.9380C= (p.Thr3127=) c.363+9352G= | |
| 6 | g.63720714G>T | CA364382756 | EYS,PHF3 | c.*7006G>T (n.*7006G>T) c.9317C>A (p.Thr3106Asn) c.9380C>A (p.Thr3127Asn) c.363+9352G>T | gnomAD v4 |
| 6 | g.63720715T>A | CA364382757 | EYS,PHF3 | c.*7007T>A (n.*7007T>A) c.9316A>T (p.Thr3106Ser) c.9379A>T (p.Thr3127Ser) c.363+9353T>A | |
| 6 | g.63720715T>C | CA364382759 | EYS,PHF3 | c.*7007T>C (n.*7007T>C) c.9316A>G (p.Thr3106Ala) c.9379A>G (p.Thr3127Ala) c.363+9353T>C | |
| 6 | g.63720715T>G | CA364382758 | EYS,PHF3 | c.*7007T>G (n.*7007T>G) c.9316A>C (p.Thr3106Pro) c.9379A>C (p.Thr3127Pro) c.363+9353T>G | |
| 6 | g.63720718del | CA2578659638 | EYS,PHF3 | c.*7010del (n.*7010del) c.9316del (p.Thr3106ProfsTer21) c.9379del (p.Thr3127ProfsTer21) c.363+9356del | ClinVar |
| 6 | g.63720716T>A | CA364382760 | EYS,PHF3 | c.*7008T>A (n.*7008T>A) c.9315A>T (p.Lys3105Asn) c.9378A>T (p.Lys3126Asn) c.363+9354T>A | |
| 6 | g.63720716T>C | CA450861952 | EYS,PHF3 | c.*7008T>C (n.*7008T>C) c.9315A>G (p.Lys3105=) c.9378A>G (p.Lys3126=) c.363+9354T>C | |
| 6 | g.63720716T>G | CA364382761 | EYS,PHF3 | c.*7008T>G (n.*7008T>G) c.9315A>C (p.Lys3105Asn) c.9378A>C (p.Lys3126Asn) c.363+9354T>G | |
| 6 | g.63720717T>A | CA364382762 | EYS,PHF3 | c.*7009T>A (n.*7009T>A) c.9314A>T (p.Lys3105Ile) c.9377A>T (p.Lys3126Ile) c.363+9355T>A | |
| 6 | g.63720717T>C | CA364382763 | EYS,PHF3 | c.*7009T>C (n.*7009T>C) c.9314A>G (p.Lys3105Arg) c.9377A>G (p.Lys3126Arg) c.363+9355T>C | |
| 6 | g.63720717T>G | CA364382764 | EYS,PHF3 | c.*7009T>G (n.*7009T>G) c.9314A>C (p.Lys3105Thr) c.9377A>C (p.Lys3126Thr) c.363+9355T>G | |
| 6 | g.63720718T>A | CA364382765 | EYS,PHF3 | c.*7010T>A (n.*7010T>A) c.9313A>T (p.Lys3105Ter) c.9376A>T (p.Lys3126Ter) c.363+9356T>A | ClinVar |
| 6 | g.63720718T>C | CA364382766 | EYS,PHF3 | c.*7010T>C (n.*7010T>C) c.9313A>G (p.Lys3105Glu) c.9376A>G (p.Lys3126Glu) c.363+9356T>C | |
| 6 | g.63720718T>G | CA364382767 | EYS,PHF3 | c.*7010T>G (n.*7010T>G) c.9313A>C (p.Lys3105Gln) c.9376A>C (p.Lys3126Gln) c.363+9356T>G | dbSNP |
| 6 | g.63720718T= | CA1633380783 | EYS,PHF3 | c.*7010T= (n.*7010T=) c.9313A= (p.Lys3105=) c.9376A= (p.Lys3126=) c.363+9356T= | |
| 6 | g.63720719A>C | CA364382768 | EYS,PHF3 | c.*7011A>C (n.*7011A>C) c.9312T>G (p.Phe3104Leu) c.9375T>G (p.Phe3125Leu) c.363+9357A>C | |
| 6 | g.63720719A>G | CA450861955 | EYS,PHF3 | c.*7011A>G (n.*7011A>G) c.9312T>C (p.Phe3104=) c.9375T>C (p.Phe3125=) c.363+9357A>G | |
| 6 | g.63720719A>T | CA364382769 | EYS,PHF3 | c.*7011A>T (n.*7011A>T) c.9312T>A (p.Phe3104Leu) c.9375T>A (p.Phe3125Leu) c.363+9357A>T | |
| 6 | g.63720723dup | CA2679279867 | EYS,PHF3 | c.*7015dup (n.*7015dup) c.9312dup (p.Lys3105Ter) c.9375dup (p.Lys3126Ter) c.363+9361dup | gnomAD v4 |
| 6 | g.63720721_63720723del | CA2679279868 | EYS,PHF3 | c.*7013_*7015del (n.*7013_*7015del) c.9310_9312del (p.Phe3104del) c.9373_9375del (p.Phe3125del) c.363+9359_363+9361del | gnomAD v4 |
| 6 | g.63720720A>C | CA364382770 | EYS,PHF3 | c.*7012A>C (n.*7012A>C) c.9311T>G (p.Phe3104Cys) c.9374T>G (p.Phe3125Cys) c.363+9358A>C | |
| 6 | g.63720720A>G | CA364382771 | EYS,PHF3 | c.*7012A>G (n.*7012A>G) c.9311T>C (p.Phe3104Ser) c.9374T>C (p.Phe3125Ser) c.363+9358A>G | |
| 6 | g.63720720A>T | CA364382772 | EYS,PHF3 | c.*7012A>T (n.*7012A>T) c.9311T>A (p.Phe3104Tyr) c.9374T>A (p.Phe3125Tyr) c.363+9358A>T | |
| 6 | g.63720721A>C | CA364382775 | EYS,PHF3 | c.*7013A>C (n.*7013A>C) c.9310T>G (p.Phe3104Val) c.9373T>G (p.Phe3125Val) c.363+9359A>C | |
| 6 | g.63720721A>G | CA364382774 | EYS,PHF3 | c.*7013A>G (n.*7013A>G) c.9310T>C (p.Phe3104Leu) c.9373T>C (p.Phe3125Leu) c.363+9359A>G | |
| 6 | g.63720721A>T | CA364382773 | EYS,PHF3 | c.*7013A>T (n.*7013A>T) c.9310T>A (p.Phe3104Ile) c.9373T>A (p.Phe3125Ile) c.363+9359A>T | |
| 6 | g.63720722A>C | CA364382776 | EYS,PHF3 | c.*7014A>C (n.*7014A>C) c.9309T>G (p.Ile3103Met) c.9372T>G (p.Ile3124Met) c.363+9360A>C | |
| 6 | g.63720722A>G | CA450861960 | EYS,PHF3 | c.*7014A>G (n.*7014A>G) c.9309T>C (p.Ile3103=) c.9372T>C (p.Ile3124=) c.363+9360A>G | |
| 6 | g.63720722A>T | CA450861961 | EYS,PHF3 | c.*7014A>T (n.*7014A>T) c.9309T>A (p.Ile3103=) c.9372T>A (p.Ile3124=) c.363+9360A>T | |
| 6 | g.63720723A>C | CA364382777 | EYS,PHF3 | c.*7015A>C (n.*7015A>C) c.9308T>G (p.Ile3103Ser) c.9371T>G (p.Ile3124Ser) c.363+9361A>C | |
| 6 | g.63720723A>G | CA364382778 | EYS,PHF3 | c.*7015A>G (n.*7015A>G) c.9308T>C (p.Ile3103Thr) c.9371T>C (p.Ile3124Thr) c.363+9361A>G | |
| 6 | g.63720723A>T | CA364382779 | EYS,PHF3 | c.*7015A>T (n.*7015A>T) c.9308T>A (p.Ile3103Asn) c.9371T>A (p.Ile3124Asn) c.363+9361A>T | |
| 6 | g.63720724T>A | CA364382780 | EYS,PHF3 | c.*7016T>A (n.*7016T>A) c.9307A>T (p.Ile3103Phe) c.9370A>T (p.Ile3124Phe) c.363+9362T>A | |
| 6 | g.63720724T>C | CA364382781 | EYS,PHF3 | c.*7016T>C (n.*7016T>C) c.9307A>G (p.Ile3103Val) c.9370A>G (p.Ile3124Val) c.363+9362T>C | |
| 6 | g.63720724T>G | CA364382782 | EYS,PHF3 | c.*7016T>G (n.*7016T>G) c.9307A>C (p.Ile3103Leu) c.9370A>C (p.Ile3124Leu) c.363+9362T>G | |
| 6 | g.63720724_63721012delinsACCAATTTTAAAAAAAATTTTAAAAAAA | CA2499218429 | EYS,PHF3 | c.*7016_*7304delinsACCAATTTTAAAAAAAATTTTAAAAAAA (n.*7016_*7304delinsACCAATTTTAAAAAAAATTTTAAAAAAA) c.9019_9307delinsTTTTTTTAAAATTTTTTTTAAAATTGGT (p.Asp3007PhefsTer3) c.9082_9370delinsTTTTTTTAAAATTTTTTTTAAAATTGGT (p.Asp3028PhefsTer3) c.363+9362_363+9650delinsACCAATTTTAAAAAAAATTTTAAAAAAA | ClinVar dbSNP |
| 6 | g.63720725C>A | CA364382783 | EYS,PHF3 | c.*7017C>A (n.*7017C>A) c.9306G>T (p.Glu3102Asp) c.9369G>T (p.Glu3123Asp) c.363+9363C>A | |
| 6 | g.63720725C= | CA1633380787 | EYS,PHF3 | c.*7017C= (n.*7017C=) c.9306G= (p.Glu3102=) c.9369G= (p.Glu3123=) c.363+9363C= | |
| 6 | g.63720725C>G | CA364382784 | EYS,PHF3 | c.*7017C>G (n.*7017C>G) c.9306G>C (p.Glu3102Asp) c.9369G>C (p.Glu3123Asp) c.363+9363C>G | |
| 6 | g.63720725C>T | CA140236785 | EYS,PHF3 | c.*7017C>T (n.*7017C>T) c.9306G>A (p.Glu3102=) c.9369G>A (p.Glu3123=) c.363+9363C>T | dbSNP |
| 6 | g.63720726T>A | CA364382785 | EYS,PHF3 | c.*7018T>A (n.*7018T>A) c.9305A>T (p.Glu3102Val) c.9368A>T (p.Glu3123Val) c.363+9364T>A | COSMIC |
| 6 | g.63720726T>C | CA364382786 | EYS,PHF3 | c.*7018T>C (n.*7018T>C) c.9305A>G (p.Glu3102Gly) c.9368A>G (p.Glu3123Gly) c.363+9364T>C | gnomAD v4 |
| 6 | g.63720726T>G | CA364382787 | EYS,PHF3 | c.*7018T>G (n.*7018T>G) c.9305A>C (p.Glu3102Ala) c.9368A>C (p.Glu3123Ala) c.363+9364T>G | |
| 6 | g.63720727_63720729del | CA2679279869 | EYS,PHF3 | c.*7019_*7021del (n.*7019_*7021del) c.9303_9305del (p.Glu3102del) c.9366_9368del (p.Glu3123del) c.363+9365_363+9367del | gnomAD v4 |
| 6 | g.63720727C>A | CA364382789 | EYS,PHF3 | c.*7019C>A (n.*7019C>A) c.9304G>T (p.Glu3102Ter) c.9367G>T (p.Glu3123Ter) c.363+9365C>A | |
| 6 | g.63720727C>G | CA364382790 | EYS,PHF3 | c.*7019C>G (n.*7019C>G) c.9304G>C (p.Glu3102Gln) c.9367G>C (p.Glu3123Gln) c.363+9365C>G | |
| 6 | g.63720727C>T | CA364382788 | EYS,PHF3 | c.*7019C>T (n.*7019C>T) c.9304G>A (p.Glu3102Lys) c.9367G>A (p.Glu3123Lys) c.363+9365C>T | ClinVar gnomAD v4 |
| 6 | g.63720727_63720729delinsCTT | CA1633380789 | EYS,PHF3 | c.*7019_*7021delinsCTT (n.*7019_*7021delinsCTT) c.9302_9304delinsAAG (p.Gln3101=) c.9365_9367delinsAAG (p.Gln3122=) c.363+9365_363+9367delinsCTT | |
| 6 | g.63720728T>A | CA364382791 | EYS,PHF3 | c.*7020T>A (n.*7020T>A) c.9303A>T (p.Gln3101His) c.9366A>T (p.Gln3122His) c.363+9366T>A | |
| 6 | g.63720728T>C | CA140236786 | EYS,PHF3 | c.*7020T>C (n.*7020T>C) c.9303A>G (p.Gln3101=) c.9366A>G (p.Gln3122=) c.363+9366T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63720728T>G | CA364382792 | EYS,PHF3 | c.*7020T>G (n.*7020T>G) c.9303A>C (p.Gln3101His) c.9366A>C (p.Gln3122His) c.363+9366T>G | |
| 6 | g.63720728T= | CA1633380795 | EYS,PHF3 | c.*7020T= (n.*7020T=) c.9303A= (p.Gln3101=) c.9366A= (p.Gln3122=) c.363+9366T= | |
| 6 | g.63720728_63720729del | CA826968692 | EYS,PHF3 | c.*7020_*7021del (n.*7020_*7021del) c.9302_9303del (p.Gln3101ArgfsTer4) c.9365_9366del (p.Gln3122ArgfsTer4) c.363+9366_363+9367del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63720728_63720732delinsTTGAG | CA1633380793 | EYS,PHF3 | c.*7020_*7024delinsTTGAG (n.*7020_*7024delinsTTGAG) c.9299_9303delinsCTCAA (p.Thr3100=) c.9362_9366delinsCTCAA (p.Thr3121=) c.363+9366_363+9370delinsTTGAG | |
| 6 | g.63720729_63720733del | CA2695206626 | EYS,PHF3 | c.*7021_*7025del (n.*7021_*7025del) c.9299_9303del (p.Thr3100ArgfsTer4) c.9362_9366del (p.Thr3121ArgfsTer4) c.363+9367_363+9371del | |
| 6 | g.63720729T>A | CA364382793 | EYS,PHF3 | c.*7021T>A (n.*7021T>A) c.9302A>T (p.Gln3101Leu) c.9365A>T (p.Gln3122Leu) c.363+9367T>A | |
| 6 | g.63720729T>C | CA364382794 | EYS,PHF3 | c.*7021T>C (n.*7021T>C) c.9302A>G (p.Gln3101Arg) c.9365A>G (p.Gln3122Arg) c.363+9367T>C | |
| 6 | g.63720729T>G | CA364382795 | EYS,PHF3 | c.*7021T>G (n.*7021T>G) c.9302A>C (p.Gln3101Pro) c.9365A>C (p.Gln3122Pro) c.363+9367T>G | gnomAD v4 |
| 6 | g.63720730_63720733del | CA3876672 | EYS,PHF3 | c.*7022_*7025del (n.*7022_*7025del) c.9299_9302del (p.Thr3100LysfsTer26) c.9362_9365del (p.Thr3121LysfsTer26) c.363+9368_363+9371del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |