SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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.
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.63720449A>T | CA2679279778 | EYS,PHF3 | c.*6741A>T (n.*6741A>T) c.*147T>A (n.*147T>A) c.363+9087A>T | gnomAD v4 |
| 6 | g.63720450C= | CA1633380387 | EYS,PHF3 | c.*6742C= (n.*6742C=) c.*146G= (n.*146G=) c.363+9088C= | |
| 6 | g.63720450C>T | CA568118952 | EYS,PHF3 | c.*6742C>T (n.*6742C>T) c.*146G>A (n.*146G>A) c.363+9088C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63720451A= | CA1633380389 | EYS,PHF3 | c.*6743A= (n.*6743A=) c.*145T= (n.*145T=) c.363+9089A= | |
| 6 | g.63720451A>T | CA140236753 | EYS,PHF3 | c.*6743A>T (n.*6743A>T) c.*145T>A (n.*145T>A) c.363+9089A>T | dbSNP |
| 6 | g.63720452A= | CA1633380391 | EYS,PHF3 | c.*6744A= (n.*6744A=) c.*144T= (n.*144T=) c.363+9090A= | |
| 6 | g.63720452A>G | CA140236754 | EYS,PHF3 | c.*6744A>G (n.*6744A>G) c.*144T>C (n.*144T>C) c.363+9090A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63720453T>C | CA2679279779 | EYS,PHF3 | c.*6745T>C (n.*6745T>C) c.*143A>G (n.*143A>G) c.363+9091T>C | gnomAD v4 |
| 6 | g.63720454C>A | CA2679279780 | EYS,PHF3 | c.*6746C>A (n.*6746C>A) c.*142G>T (n.*142G>T) c.363+9092C>A | gnomAD v4 |
| 6 | g.63720455T>C | CA1633380394 | EYS,PHF3 | c.*6747T>C (n.*6747T>C) c.*141A>G (n.*141A>G) c.363+9093T>C | dbSNP gnomAD v4 |
| 6 | g.63720455T= | CA1633380393 | EYS,PHF3 | c.*6747T= (n.*6747T=) c.*141A= (n.*141A=) c.363+9093T= | |
| 6 | g.63720457A= | CA1633380395 | EYS,PHF3 | c.*6749A= (n.*6749A=) c.*139T= (n.*139T=) c.363+9095A= | |
| 6 | g.63720457A>G | CA568118953 | EYS,PHF3 | c.*6749A>G (n.*6749A>G) c.*139T>C (n.*139T>C) c.363+9095A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63720458T>A | CA2679279781 | EYS,PHF3 | c.*6750T>A (n.*6750T>A) c.*138A>T (n.*138A>T) c.363+9096T>A | gnomAD v4 |
| 6 | g.63720458T>C | CA140236755 | EYS,PHF3 | c.*6750T>C (n.*6750T>C) c.*138A>G (n.*138A>G) c.363+9096T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63720458T>G | CA826968222 | EYS,PHF3 | c.*6750T>G (n.*6750T>G) c.*138A>C (n.*138A>C) c.363+9096T>G | dbSNP gnomAD v4 |
| 6 | g.63720458T= | CA1633380397 | EYS,PHF3 | c.*6750T= (n.*6750T=) c.*138A= (n.*138A=) c.363+9096T= | |
| 6 | g.63720459C>A | CA826968229 | EYS,PHF3 | c.*6751C>A (n.*6751C>A) c.*137G>T (n.*137G>T) c.363+9097C>A | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63720459C= | CA1633380404 | EYS,PHF3 | c.*6751C= (n.*6751C=) c.*137G= (n.*137G=) c.363+9097C= | |
| 6 | g.63720459C>T | CA1089788116 | EYS,PHF3 | c.*6751C>T (n.*6751C>T) c.*137G>A (n.*137G>A) c.363+9097C>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63720459_63720460delinsCA | CA1633380402 | EYS,PHF3 | c.*6751_*6752delinsCA (n.*6751_*6752delinsCA) c.*136_*137delinsTG (n.*136_*137delinsTG) c.363+9097_363+9098delinsCA | |
| 6 | g.63720464del | CA826968230 | EYS,PHF3 | c.*6756del (n.*6756del) c.*136del (n.*136del) c.363+9102del | dbSNP gnomAD v4 |
| 6 | g.63720463_63720465delinsAAG | CA1633380407 | EYS,PHF3 | c.*6755_*6757delinsAAG (n.*6755_*6757delinsAAG) c.*131_*133delinsCTT (n.*131_*133delinsCTT) c.363+9101_363+9103delinsAAG | |
| 6 | g.63720465_63720466del | CA1633380408 | EYS,PHF3 | c.*6757_*6758del (n.*6757_*6758del) c.*131_*132del (n.*131_*132del) c.363+9103_363+9104del | dbSNP |
| 6 | g.63720465G>C | CA1633380413 | EYS,PHF3 | c.*6757G>C (n.*6757G>C) c.*131C>G (n.*131C>G) c.363+9103G>C | dbSNP |
| 6 | g.63720465G= | CA1633380411 | EYS,PHF3 | c.*6757G= (n.*6757G=) c.*131C= (n.*131C=) c.363+9103G= | |
| 6 | g.63720465G>T | CA2679279782 | EYS,PHF3 | c.*6757G>T (n.*6757G>T) c.*131C>A (n.*131C>A) c.363+9103G>T | gnomAD v4 |
| 6 | g.63720465_63720467delinsGAT | CA1633380410 | EYS,PHF3 | c.*6757_*6759delinsGAT (n.*6757_*6759delinsGAT) c.*129_*131delinsATC (n.*129_*131delinsATC) c.363+9103_363+9105delinsGAT | |
| 6 | g.63720468_63720469del | CA826968231 | EYS,PHF3 | c.*6760_*6761del (n.*6760_*6761del) c.*129_*130del (n.*129_*130del) c.363+9106_363+9107del | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63720467T>C | CA2679279783 | EYS,PHF3 | c.*6759T>C (n.*6759T>C) c.*129A>G (n.*129A>G) c.363+9105T>C | gnomAD v4 |
| 6 | g.63720468A>C | CA2679279784 | EYS,PHF3 | c.*6760A>C (n.*6760A>C) c.*128T>G (n.*128T>G) c.363+9106A>C | gnomAD v4 |
| 6 | g.63720468A>G | CA650375545 | EYS,PHF3 | c.*6760A>G (n.*6760A>G) c.*128T>C (n.*128T>C) c.363+9106A>G | COSMIC |
| 6 | g.63720469T>C | CA140236756 | EYS,PHF3 | c.*6761T>C (n.*6761T>C) c.*127A>G (n.*127A>G) c.363+9107T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63720469T= | CA1633380415 | EYS,PHF3 | c.*6761T= (n.*6761T=) c.*127A= (n.*127A=) c.363+9107T= | |
| 6 | g.63720470G>T | CA2679279785 | EYS,PHF3 | c.*6762G>T (n.*6762G>T) c.*126C>A (n.*126C>A) c.363+9108G>T | gnomAD v4 |
| 6 | g.63720472_63720473delinsTA | CA1633380416 | EYS,PHF3 | c.*6764_*6765delinsTA (n.*6764_*6765delinsTA) c.*123_*124delinsTA (n.*123_*124delinsTA) c.363+9110_363+9111delinsTA | |
| 6 | g.63720473del | CA1633380417 | EYS,PHF3 | c.*6765del (n.*6765del) c.*123del (n.*123del) c.363+9111del | dbSNP |
| 6 | g.63720473A= | CA1633380419 | EYS,PHF3 | c.*6765A= (n.*6765A=) c.*123T= (n.*123T=) c.363+9111A= | |
| 6 | g.63720473A>G | CA1633380420 | EYS,PHF3 | c.*6765A>G (n.*6765A>G) c.*123T>C (n.*123T>C) c.363+9111A>G | dbSNP |
| 6 | g.63720474G>A | CA826968236 | EYS,PHF3 | c.*6766G>A (n.*6766G>A) c.*122C>T (n.*122C>T) c.363+9112G>A | dbSNP |
| 6 | g.63720474G= | CA1633380422 | EYS,PHF3 | c.*6766G= (n.*6766G=) c.*122C= (n.*122C=) c.363+9112G= | |
| 6 | g.63720474G>T | CA2508273616 | EYS,PHF3 | c.*6766G>T (n.*6766G>T) c.*122C>A (n.*122C>A) c.363+9112G>T | gnomAD v4 |
| 6 | g.63720475del | CA2679279786 | EYS,PHF3 | c.*6767del (n.*6767del) c.*121del (n.*121del) c.363+9113del | gnomAD v4 |
| 6 | g.63720475C>A | CA2679279787 | EYS,PHF3 | c.*6767C>A (n.*6767C>A) c.*121G>T (n.*121G>T) c.363+9113C>A | gnomAD v4 |
| 6 | g.63720476A>G | CA2771457306 | EYS,PHF3 | c.*6768A>G (n.*6768A>G) c.*120T>C (n.*120T>C) c.363+9114A>G | |
| 6 | g.63720476A>T | CA2679279788 | EYS,PHF3 | c.*6768A>T (n.*6768A>T) c.*120T>A (n.*120T>A) c.363+9114A>T | gnomAD v4 |
| 6 | g.63720480A>T | CA2679279789 | EYS,PHF3 | c.*6772A>T (n.*6772A>T) c.*116T>A (n.*116T>A) c.363+9118A>T | gnomAD v4 |
| 6 | g.63720481G>T | CA2516815815 | EYS,PHF3 | c.*6773G>T (n.*6773G>T) c.*115C>A (n.*115C>A) c.363+9119G>T | gnomAD v4 |
| 6 | g.63720483C>A | CA2679279790 | EYS,PHF3 | c.*6775C>A (n.*6775C>A) c.*113G>T (n.*113G>T) c.363+9121C>A | gnomAD v4 |
| 6 | g.63720484T>A | CA2679279791 | EYS,PHF3 | c.*6776T>A (n.*6776T>A) c.*112A>T (n.*112A>T) c.363+9122T>A | gnomAD v4 |
| 6 | g.63720485A= | CA1633380423 | EYS,PHF3 | c.*6777A= (n.*6777A=) c.*111T= (n.*111T=) c.363+9123A= | |
| 6 | g.63720485A>G | CA826968237 | EYS,PHF3 | c.*6777A>G (n.*6777A>G) c.*111T>C (n.*111T>C) c.363+9123A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63720486T>A | CA2679279793 | EYS,PHF3 | c.*6778T>A (n.*6778T>A) c.*110A>T (n.*110A>T) c.363+9124T>A | gnomAD v4 |
| 6 | g.63720488dup | CA2679279792 | EYS,PHF3 | c.*6780dup (n.*6780dup) c.*110dup (n.*110dup) c.363+9126dup | gnomAD v4 |
| 6 | g.63720488T>C | CA140236757 | EYS,PHF3 | c.*6780T>C (n.*6780T>C) c.*108A>G (n.*108A>G) c.363+9126T>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63720488T= | CA1633380425 | EYS,PHF3 | c.*6780T= (n.*6780T=) c.*108A= (n.*108A=) c.363+9126T= | |
| 6 | g.63720489C>A | CA2679279794 | EYS,PHF3 | c.*6781C>A (n.*6781C>A) c.*107G>T (n.*107G>T) c.363+9127C>A | gnomAD v4 |
| 6 | g.63720489C>T | CA2679279795 | EYS,PHF3 | c.*6781C>T (n.*6781C>T) c.*107G>A (n.*107G>A) c.363+9127C>T | gnomAD v4 |
| 6 | g.63720490A>C | CA2679279796 | EYS,PHF3 | c.*6782A>C (n.*6782A>C) c.*106T>G (n.*106T>G) c.363+9128A>C | gnomAD v4 |
| 6 | g.63720490A>T | CA2679279797 | EYS,PHF3 | c.*6782A>T (n.*6782A>T) c.*106T>A (n.*106T>A) c.363+9128A>T | gnomAD v4 |
| 6 | g.63720491G>T | CA2679279798 | EYS,PHF3 | c.*6783G>T (n.*6783G>T) c.*105C>A (n.*105C>A) c.363+9129G>T | gnomAD v4 |
| 6 | g.63720492G>T | CA2679279800 | EYS,PHF3 | c.*6784G>T (n.*6784G>T) c.*104C>A (n.*104C>A) c.363+9130G>T | gnomAD v4 |
| 6 | g.63720496_63720503del | CA2679279799 | EYS,PHF3 | c.*6788_*6795del (n.*6788_*6795del) c.*97_*104del (n.*97_*104del) c.363+9134_363+9141del | gnomAD v4 |
| 6 | g.63720494A>T | CA2679279801 | EYS,PHF3 | c.*6786A>T (n.*6786A>T) c.*102T>A (n.*102T>A) c.363+9132A>T | gnomAD v4 |
| 6 | g.63720494_63720496delinsAAT | CA1633380427 | EYS,PHF3 | c.*6786_*6788delinsAAT (n.*6786_*6788delinsAAT) c.*100_*102delinsATT (n.*100_*102delinsATT) c.363+9132_363+9134delinsAAT | |
| 6 | g.63720498_63720499del | CA1089788124 | EYS,PHF3 | c.*6790_*6791del (n.*6790_*6791del) c.*100_*101del (n.*100_*101del) c.363+9136_363+9137del | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63720496T>A | CA2679279803 | EYS,PHF3 | c.*6788T>A (n.*6788T>A) c.*100A>T (n.*100A>T) c.363+9134T>A | gnomAD v4 |
| 6 | g.63720498_63720502del | CA2679279802 | EYS,PHF3 | c.*6790_*6794del (n.*6790_*6794del) c.*96_*100del (n.*96_*100del) c.363+9136_363+9140del | gnomAD v4 |
| 6 | g.63720497A>G | CA2711905415 | EYS,PHF3 | c.*6789A>G (n.*6789A>G) c.*99T>C (n.*99T>C) c.363+9135A>G | dbSNP |
| 6 | g.63720498T>C | CA10622570 | EYS,PHF3 | c.*6790T>C (n.*6790T>C) c.*98A>G (n.*98A>G) c.363+9136T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63720498T>G | CA1089788135 | EYS,PHF3 | c.*6790T>G (n.*6790T>G) c.*98A>C (n.*98A>C) c.363+9136T>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63720498T= | CA1633380431 | EYS,PHF3 | c.*6790T= (n.*6790T=) c.*98A= (n.*98A=) c.363+9136T= | |
| 6 | g.63720500_63720502del | CA2679279804 | EYS,PHF3 | c.*6792_*6794del (n.*6792_*6794del) c.*96_*98del (n.*96_*98del) c.363+9138_363+9140del | gnomAD v4 |
| 6 | g.63720500G>T | CA2679279805 | EYS,PHF3 | c.*6792G>T (n.*6792G>T) c.*96C>A (n.*96C>A) c.363+9138G>T | gnomAD v4 |
| 6 | g.63720501T>C | CA2679279806 | EYS,PHF3 | c.*6793T>C (n.*6793T>C) c.*95A>G (n.*95A>G) c.363+9139T>C | gnomAD v4 |
| 6 | g.63720501T>G | CA1633380435 | EYS,PHF3 | c.*6793T>G (n.*6793T>G) c.*95A>C (n.*95A>C) c.363+9139T>G | dbSNP |
| 6 | g.63720501T= | CA1633380434 | EYS,PHF3 | c.*6793T= (n.*6793T=) c.*95A= (n.*95A=) c.363+9139T= | |
| 6 | g.63720502A>C | CA2679279807 | EYS,PHF3 | c.*6794A>C (n.*6794A>C) c.*94T>G (n.*94T>G) c.363+9140A>C | gnomAD v4 |
| 6 | g.63720503A= | CA1633380436 | EYS,PHF3 | c.*6795A= (n.*6795A=) c.*93T= (n.*93T=) c.363+9141A= | |
| 6 | g.63720503A>G | CA1633380437 | EYS,PHF3 | c.*6795A>G (n.*6795A>G) c.*93T>C (n.*93T>C) c.363+9141A>G | dbSNP gnomAD v4 |
| 6 | g.63720504A>G | CA2679279808 | EYS,PHF3 | c.*6796A>G (n.*6796A>G) c.*92T>C (n.*92T>C) c.363+9142A>G | gnomAD v4 |
| 6 | g.63720505C>A | CA2679279809 | EYS,PHF3 | c.*6797C>A (n.*6797C>A) c.*91G>T (n.*91G>T) c.363+9143C>A | gnomAD v4 |
| 6 | g.63720505C= | CA1633380439 | EYS,PHF3 | c.*6797C= (n.*6797C=) c.*91G= (n.*91G=) c.363+9143C= | |
| 6 | g.63720505C>T | CA1633380440 | EYS,PHF3 | c.*6797C>T (n.*6797C>T) c.*91G>A (n.*91G>A) c.363+9143C>T | dbSNP |
| 6 | g.63720506_63720509del | CA2679279810 | EYS,PHF3 | c.*6798_*6801del (n.*6798_*6801del) c.*87_*90del (n.*87_*90del) c.363+9144_363+9147del | gnomAD v4 |
| 6 | g.63720507G>A | CA2679279811 | EYS,PHF3 | c.*6799G>A (n.*6799G>A) c.*89C>T (n.*89C>T) c.363+9145G>A | gnomAD v4 |
| 6 | g.63720507G>T | CA2679279812 | EYS,PHF3 | c.*6799G>T (n.*6799G>T) c.*89C>A (n.*89C>A) c.363+9145G>T | gnomAD v4 |
| 6 | g.63720508T>C | CA2578659620 | EYS,PHF3 | c.*6800T>C (n.*6800T>C) c.*88A>G (n.*88A>G) c.363+9146T>C | gnomAD v4 |
| 6 | g.63720510G>A | CA1633380443 | EYS,PHF3 | c.*6802G>A (n.*6802G>A) c.*86C>T (n.*86C>T) c.363+9148G>A | dbSNP |
| 6 | g.63720510G= | CA1633380441 | EYS,PHF3 | c.*6802G= (n.*6802G=) c.*86C= (n.*86C=) c.363+9148G= | |
| 6 | g.63720510G>T | CA2578659621 | EYS,PHF3 | c.*6802G>T (n.*6802G>T) c.*86C>A (n.*86C>A) c.363+9148G>T | gnomAD v4 |
| 6 | g.63720511del | CA2578659622 | EYS,PHF3 | c.*6803del (n.*6803del) c.*85del (n.*85del) c.363+9149del | |
| 6 | g.63720511A>G | CA2679279813 | EYS,PHF3 | c.*6803A>G (n.*6803A>G) c.*85T>C (n.*85T>C) c.363+9149A>G | gnomAD v4 |
| 6 | g.63720513T>A | CA140236758 | EYS,PHF3 | c.*6805T>A (n.*6805T>A) c.*83A>T (n.*83A>T) c.363+9151T>A | dbSNP gnomAD v4 |
| 6 | g.63720513T>G | CA140236759 | EYS,PHF3 | c.*6805T>G (n.*6805T>G) c.*83A>C (n.*83A>C) c.363+9151T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63720513T= | CA1633380446 | EYS,PHF3 | c.*6805T= (n.*6805T=) c.*83A= (n.*83A=) c.363+9151T= | |
| 6 | g.63720514C>A | CA2679279814 | EYS,PHF3 | c.*6806C>A (n.*6806C>A) c.*82G>T (n.*82G>T) c.363+9152C>A | gnomAD v4 |
| 6 | g.63720514C= | CA1633380449 | EYS,PHF3 | c.*6806C= (n.*6806C=) c.*82G= (n.*82G=) c.363+9152C= | |
| 6 | g.63720514C>T | CA140236760 | EYS,PHF3 | c.*6806C>T (n.*6806C>T) c.*82G>A (n.*82G>A) c.363+9152C>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63720517del | CA2541144231 | EYS,PHF3 | c.*6809del (n.*6809del) c.*82del (n.*82del) c.363+9155del | gnomAD v4 |
| 6 | g.63720515C>A | CA2679279815 | EYS,PHF3 | c.*6807C>A (n.*6807C>A) c.*81G>T (n.*81G>T) c.363+9153C>A | gnomAD v4 |
| 6 | g.63720515C>T | CA2679279816 | EYS,PHF3 | c.*6807C>T (n.*6807C>T) c.*81G>A (n.*81G>A) c.363+9153C>T | gnomAD v4 |
| 6 | g.63720516C>A | CA2841691487 | EYS,PHF3 | c.*6808C>A (n.*6808C>A) c.*80G>T (n.*80G>T) c.363+9154C>A | |
| 6 | g.63720517C= | CA1633380451 | EYS,PHF3 | c.*6809C= (n.*6809C=) c.*79G= (n.*79G=) c.363+9155C= | |
| 6 | g.63720517C>T | CA140236761 | EYS,PHF3 | c.*6809C>T (n.*6809C>T) c.*79G>A (n.*79G>A) c.363+9155C>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63720518G>A | CA1633380454 | EYS,PHF3 | c.*6810G>A (n.*6810G>A) c.*78C>T (n.*78C>T) c.363+9156G>A | dbSNP gnomAD v4 |
| 6 | g.63720518G= | CA1633380453 | EYS,PHF3 | c.*6810G= (n.*6810G=) c.*78C= (n.*78C=) c.363+9156G= | |
| 6 | g.63720518G>T | CA2578659623 | EYS,PHF3 | c.*6810G>T (n.*6810G>T) c.*78C>A (n.*78C>A) c.363+9156G>T | gnomAD v4 |
| 6 | g.63720519T>C | CA2771457307 | EYS,PHF3 | c.*6811T>C (n.*6811T>C) c.*77A>G (n.*77A>G) c.363+9157T>C | |
| 6 | g.63720520A>G | CA2711905841 | EYS,PHF3 | c.*6812A>G (n.*6812A>G) c.*76T>C (n.*76T>C) c.363+9158A>G | dbSNP |
| 6 | g.63720521A= | CA1633380456 | EYS,PHF3 | c.*6813A= (n.*6813A=) c.*75T= (n.*75T=) c.363+9159A= | |
| 6 | g.63720521A>T | CA1633380457 | EYS,PHF3 | c.*6813A>T (n.*6813A>T) c.*75T>A (n.*75T>A) c.363+9159A>T | dbSNP |
| 6 | g.63720522G>A | CA2679279817 | EYS,PHF3 | c.*6814G>A (n.*6814G>A) c.*74C>T (n.*74C>T) c.363+9160G>A | gnomAD v4 |
| 6 | g.63720522G>T | CA2578659624 | EYS,PHF3 | c.*6814G>T (n.*6814G>T) c.*74C>A (n.*74C>A) c.363+9160G>T | gnomAD v4 |
| 6 | g.63720523C>A | CA2679279818 | EYS,PHF3 | c.*6815C>A (n.*6815C>A) c.*73G>T (n.*73G>T) c.363+9161C>A | gnomAD v4 |
| 6 | g.63720523C>T | CA2679279819 | EYS,PHF3 | c.*6815C>T (n.*6815C>T) c.*73G>A (n.*73G>A) c.363+9161C>T | gnomAD v4 |
| 6 | g.63720525del | CA2679279820 | EYS,PHF3 | c.*6817del (n.*6817del) c.*72del (n.*72del) c.363+9163del | gnomAD v4 |
| 6 | g.63720525A= | CA1633380458 | EYS,PHF3 | c.*6817A= (n.*6817A=) c.*71T= (n.*71T=) c.363+9163A= | |
| 6 | g.63720525A>C | CA1633380460 | EYS,PHF3 | c.*6817A>C (n.*6817A>C) c.*71T>G (n.*71T>G) c.363+9163A>C | dbSNP gnomAD v4 |
| 6 | g.63720525A>G | CA1089788141 | EYS,PHF3 | c.*6817A>G (n.*6817A>G) c.*71T>C (n.*71T>C) c.363+9163A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63720525A>T | CA1089788151 | EYS,PHF3 | c.*6817A>T (n.*6817A>T) c.*71T>A (n.*71T>A) c.363+9163A>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63720526T>A | CA2679279821 | EYS,PHF3 | c.*6818T>A (n.*6818T>A) c.*70A>T (n.*70A>T) c.363+9164T>A | gnomAD v4 |
| 6 | g.63720526T>C | CA2557904212 | EYS,PHF3 | c.*6818T>C (n.*6818T>C) c.*70A>G (n.*70A>G) c.363+9164T>C | |
| 6 | g.63720527G>A | CA2679279822 | EYS,PHF3 | c.*6819G>A (n.*6819G>A) c.*69C>T (n.*69C>T) c.363+9165G>A | gnomAD v4 |
| 6 | g.63720527G>T | CA2679279823 | EYS,PHF3 | c.*6819G>T (n.*6819G>T) c.*69C>A (n.*69C>A) c.363+9165G>T | gnomAD v4 |
| 6 | g.63720529A>G | CA2578659625 | EYS,PHF3 | c.*6821A>G (n.*6821A>G) c.*67T>C (n.*67T>C) c.363+9167A>G | |
| 6 | g.63720545_63720546insACATAAATGCAGTTATTTTGATAGTTATTTCTTTGATACATTGCTTACGGGGAATCAAAGAAATAACTAT | CA2830541124 | EYS,PHF3 | c.*6837_*6838insACATAAATGCAGTTATTTTGATAGTTATTTCTTTGATACATTGCTTACGGGGAATCAAAGAAATAACTAT (n.*6837_*6838insACATAAATGCAGTTATTTTGATAGTTATTTCTTTGATACATTGCTTACGGGGAATCAAAGAAATAACTAT) c.*67_*68insTCCCCGTAAGCAATGTATCAAAGAAATAACTATCAAAATAACTGCATTTATGTATAGTTATTTCTTTGAT (n.*67_*68insTCCCCGTAAGCAATGTATCAAAGAAATAACTATCAAAATAACTGCATTTATGTATAGTTATTTCTTTGAT) c.363+9183_363+9184insACATAAATGCAGTTATTTTGATAGTTATTTCTTTGATACATTGCTTACGGGGAATCAAAGAAATAACTAT | |
| 6 | g.63720531C>A | CA2679279824 | EYS,PHF3 | c.*6823C>A (n.*6823C>A) c.*65G>T (n.*65G>T) c.363+9169C>A | gnomAD v4 |
| 6 | g.63720531C= | CA1633380461 | EYS,PHF3 | c.*6823C= (n.*6823C=) c.*65G= (n.*65G=) c.363+9169C= | |
| 6 | g.63720531C>G | CA140236762 | EYS,PHF3 | c.*6823C>G (n.*6823C>G) c.*65G>C (n.*65G>C) c.363+9169C>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63720531_63720535delinsCAAAG | CA1633380462 | EYS,PHF3 | c.*6823_*6827delinsCAAAG (n.*6823_*6827delinsCAAAG) c.*61_*65delinsCTTTG (n.*61_*65delinsCTTTG) c.363+9169_363+9173delinsCAAAG | |
| 6 | g.63720532A= | CA1633380465 | EYS,PHF3 | c.*6824A= (n.*6824A=) c.*64T= (n.*64T=) c.363+9170A= | |
| 6 | g.63720532A>G | CA826968250 | EYS,PHF3 | c.*6824A>G (n.*6824A>G) c.*64T>C (n.*64T>C) c.363+9170A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63720533_63720534dup | CA2679279825 | EYS,PHF3 | c.*6825_*6826dup (n.*6825_*6826dup) c.*63_*64dup (n.*63_*64dup) c.363+9171_363+9172dup | gnomAD v4 |
| 6 | g.63720535_63720538del | CA1089788160 | EYS,PHF3 | c.*6827_*6830del (n.*6827_*6830del) c.*61_*64del (n.*61_*64del) c.363+9173_363+9176del | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63720533A>C | CA2679279826 | EYS,PHF3 | c.*6825A>C (n.*6825A>C) c.*63T>G (n.*63T>G) c.363+9171A>C | gnomAD v4 |
| 6 | g.63720535G>A | CA826968255 | EYS,PHF3 | c.*6827G>A (n.*6827G>A) c.*61C>T (n.*61C>T) c.363+9173G>A | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63720535G= | CA1633380466 | EYS,PHF3 | c.*6827G= (n.*6827G=) c.*61C= (n.*61C=) c.363+9173G= | |
| 6 | g.63720535G>T | CA2679279827 | EYS,PHF3 | c.*6827G>T (n.*6827G>T) c.*61C>A (n.*61C>A) c.363+9173G>T | gnomAD v4 |
| 6 | g.63720538_63720541del | CA2679279828 | EYS,PHF3 | c.*6830_*6833del (n.*6830_*6833del) c.*57_*60del (n.*57_*60del) c.363+9176_363+9179del | gnomAD v4 |
| 6 | g.63720537A= | CA1633380467 | EYS,PHF3 | c.*6829A= (n.*6829A=) c.*59T= (n.*59T=) c.363+9175A= | |
| 6 | g.63720537A>G | CA140236763 | EYS,PHF3 | c.*6829A>G (n.*6829A>G) c.*59T>C (n.*59T>C) c.363+9175A>G | dbSNP |
| 6 | g.63720538A>C | CA2679279829 | EYS,PHF3 | c.*6830A>C (n.*6830A>C) c.*58T>G (n.*58T>G) c.363+9176A>C | gnomAD v4 |
| 6 | g.63720538A>G | CA2679279830 | EYS,PHF3 | c.*6830A>G (n.*6830A>G) c.*58T>C (n.*58T>C) c.363+9176A>G | gnomAD v4 |
| 6 | g.63720539T>C | CA2679279831 | EYS,PHF3 | c.*6831T>C (n.*6831T>C) c.*57A>G (n.*57A>G) c.363+9177T>C | gnomAD v4 |
| 6 | g.63720541A= | CA1633380468 | EYS,PHF3 | c.*6833A= (n.*6833A=) c.*55T= (n.*55T=) c.363+9179A= | |
| 6 | g.63720541A>G | CA2679279832 | EYS,PHF3 | c.*6833A>G (n.*6833A>G) c.*55T>C (n.*55T>C) c.363+9179A>G | gnomAD v4 |
| 6 | g.63720541A>T | CA140236764 | EYS,PHF3 | c.*6833A>T (n.*6833A>T) c.*55T>A (n.*55T>A) c.363+9179A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63720542C>A | CA2679279834 | EYS,PHF3 | c.*6834C>A (n.*6834C>A) c.*54G>T (n.*54G>T) c.363+9180C>A | gnomAD v4 |
| 6 | g.63720542C= | CA1633380470 | EYS,PHF3 | c.*6834C= (n.*6834C=) c.*54G= (n.*54G=) c.363+9180C= | |
| 6 | g.63720542C>G | CA2771457308 | EYS,PHF3 | c.*6834C>G (n.*6834C>G) c.*54G>C (n.*54G>C) c.363+9180C>G | |
| 6 | g.63720542C>T | CA2679279833 | EYS,PHF3 | c.*6834C>T (n.*6834C>T) c.*54G>A (n.*54G>A) c.363+9180C>T | gnomAD v4 |
| 6 | g.63720542_63720554del | CA2578659626 | EYS,PHF3 | c.*6834_*6846del (n.*6834_*6846del) c.*42_*54del (n.*42_*54del) c.363+9180_363+9192del | |
| 6 | g.63720543T>C | CA2679279836 | EYS,PHF3 | c.*6835T>C (n.*6835T>C) c.*53A>G (n.*53A>G) c.363+9181T>C | gnomAD v4 |
| 6 | g.63720543T>G | CA568118956 | EYS,PHF3 | c.*6835T>G (n.*6835T>G) c.*53A>C (n.*53A>C) c.363+9181T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63720543T= | CA1633380473 | EYS,PHF3 | c.*6835T= (n.*6835T=) c.*53A= (n.*53A=) c.363+9181T= | |
| 6 | g.63720543dup | CA140236765 | EYS,PHF3 | c.*6835dup (n.*6835dup) c.*53dup (n.*53dup) c.363+9181dup | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63720544_63720545del | CA2679279835 | EYS,PHF3 | c.*6836_*6837del (n.*6836_*6837del) c.*52_*53del (n.*52_*53del) c.363+9182_363+9183del | gnomAD v4 |
| 6 | g.63720544A>G | CA2598416085 | EYS,PHF3 | c.*6836A>G (n.*6836A>G) c.*52T>C (n.*52T>C) c.363+9182A>G | gnomAD v3 gnomAD v4 |
| 6 | g.63720545T>C | CA2679279837 | EYS,PHF3 | c.*6837T>C (n.*6837T>C) c.*51A>G (n.*51A>G) c.363+9183T>C | dbSNP gnomAD v4 |
| 6 | g.63720546C>A | CA2679279838 | EYS,PHF3 | c.*6838C>A (n.*6838C>A) c.*50G>T (n.*50G>T) c.363+9184C>A | gnomAD v4 |
| 6 | g.63720549_63720553del | CA2679279839 | EYS,PHF3 | c.*6841_*6845del (n.*6841_*6845del) c.*45_*49del (n.*45_*49del) c.363+9187_363+9191del | gnomAD v4 |
| 6 | g.63720548A= | CA1633380474 | EYS,PHF3 | c.*6840A= (n.*6840A=) c.*48T= (n.*48T=) c.363+9186A= | |
| 6 | g.63720548A>C | CA568118958 | EYS,PHF3 | c.*6840A>C (n.*6840A>C) c.*48T>G (n.*48T>G) c.363+9186A>C | dbSNP gnomAD v2 gnomAD v4 |