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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 |
|---|---|---|---|---|---|
| 1 | g.215766634G>A | CA1220412616 | USH2A | c.11047+47C>T (n.11047+47C>T) | dbSNP |
| 1 | g.215766634G>C | CA2650502843 | USH2A | c.11047+47C>G (n.11047+47C>G) | gnomAD v4 |
| 1 | g.215766634G= | CA1220412615 | USH2A | c.11047+47C= (n.11047+47C=) | |
| 1 | g.215766634G>T | CA1393836 | USH2A | c.11047+47C>A (n.11047+47C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215766635C>T | CA2650502844 | USH2A | c.11047+46G>A (n.11047+46G>A) | dbSNP gnomAD v4 |
| 1 | g.215766636T>C | CA2574132956 | USH2A | c.11047+45A>G (n.11047+45A>G) | gnomAD v4 |
| 1 | g.215766638T>C | CA528709849 | USH2A | c.11047+43A>G (n.11047+43A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215766638T>G | CA1393837 | USH2A | c.11047+43A>C (n.11047+43A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215766638T= | CA1220412620 | USH2A | c.11047+43A= (n.11047+43A=) | |
| 1 | g.215766639G>A | CA1393838 | USH2A | c.11047+42C>T (n.11047+42C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215766639G= | CA1220412622 | USH2A | c.11047+42C= (n.11047+42C=) | |
| 1 | g.215766639G>T | CA2650502845 | USH2A | c.11047+42C>A (n.11047+42C>A) | gnomAD v4 |
| 1 | g.215766643A>G | CA2650502846 | USH2A | c.11047+38T>C (n.11047+38T>C) | gnomAD v4 |
| 1 | g.215766644A= | CA1220412625 | USH2A | c.11047+37T= (n.11047+37T=) | |
| 1 | g.215766644A>G | CA731329649 | USH2A | c.11047+37T>C (n.11047+37T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215766648T>C | CA1393839 | USH2A | c.11047+33A>G (n.11047+33A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215766648T= | CA1220412629 | USH2A | c.11047+33A= (n.11047+33A=) | |
| 1 | g.215766649C>G | CA2650502847 | USH2A | c.11047+32G>C (n.11047+32G>C) | gnomAD v4 |
| 1 | g.215766649C>T | CA2650502848 | USH2A | c.11047+32G>A (n.11047+32G>A) | gnomAD v4 |
| 1 | g.215766650T>C | CA2650502849 | USH2A | c.11047+31A>G (n.11047+31A>G) | gnomAD v4 |
| 1 | g.215766652C>G | CA2650502850 | USH2A | c.11047+29G>C (n.11047+29G>C) | gnomAD v4 |
| 1 | g.215766652C>T | CA2650502851 | USH2A | c.11047+29G>A (n.11047+29G>A) | gnomAD v4 |
| 1 | g.215766654dup | CA2841589317 | USH2A | c.11047+29dup (n.11047+29dup) | |
| 1 | g.215766654C>A | CA2839835365 | USH2A | c.11047+27G>T (n.11047+27G>T) | |
| 1 | g.215766654C>T | CA2650502852 | USH2A | c.11047+27G>A (n.11047+27G>A) | gnomAD v4 |
| 1 | g.215766655T>C | CA37429011 | USH2A | c.11047+26A>G (n.11047+26A>G) | dbSNP |
| 1 | g.215766655T>G | CA646411903 | USH2A | c.11047+26A>C (n.11047+26A>C) | COSMIC |
| 1 | g.215766655T= | CA1220412633 | USH2A | c.11047+26A= (n.11047+26A=) | |
| 1 | g.215766656C>A | CA1393840 | USH2A | c.11047+25G>T (n.11047+25G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215766656C= | CA1220412637 | USH2A | c.11047+25G= (n.11047+25G=) | |
| 1 | g.215766656C>G | CA1012200645 | USH2A | c.11047+25G>C (n.11047+25G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215766656C>T | CA528709853 | USH2A | c.11047+25G>A (n.11047+25G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215766658A= | CA1220412640 | USH2A | c.11047+23T= (n.11047+23T=) | |
| 1 | g.215766658A>C | CA1220412642 | USH2A | c.11047+23T>G (n.11047+23T>G) | dbSNP |
| 1 | g.215766658A>G | CA731329663 | USH2A | c.11047+23T>C (n.11047+23T>C) | dbSNP |
| 1 | g.215766660C>T | CA2747720365 | USH2A | c.11047+21G>A (n.11047+21G>A) | |
| 1 | g.215766661C>T | CA2650502853 | USH2A | c.11047+20G>A (n.11047+20G>A) | ClinVar gnomAD v4 |
| 1 | g.215766662A= | CA1220412644 | USH2A | c.11047+19T= (n.11047+19T=) | |
| 1 | g.215766662A>G | CA528709855 | USH2A | c.11047+19T>C (n.11047+19T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215766663T>A | CA1220412647 | USH2A | c.11047+18A>T (n.11047+18A>T) | dbSNP |
| 1 | g.215766663T>C | CA37429019 | USH2A | c.11047+18A>G (n.11047+18A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215766663T>G | CA2650502854 | USH2A | c.11047+18A>C (n.11047+18A>C) | gnomAD v4 |
| 1 | g.215766663T= | CA1220412645 | USH2A | c.11047+18A= (n.11047+18A=) | |
| 1 | g.215766663_215766667del | CA2574132957 | USH2A | c.11047+14_11047+18del (n.11047+14_11047+18del) | |
| 1 | g.215766664G>A | CA2650502855 | USH2A | c.11047+17C>T (n.11047+17C>T) | gnomAD v4 |
| 1 | g.215766665G>A | CA1012200646 | USH2A | c.11047+16C>T (n.11047+16C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215766665G>C | CA2508598604 | USH2A | c.11047+16C>G (n.11047+16C>G) | |
| 1 | g.215766665G= | CA1220412650 | USH2A | c.11047+16C= (n.11047+16C=) | |
| 1 | g.215766665G>T | CA2564437348 | USH2A | c.11047+16C>A (n.11047+16C>A) | ClinVar dbSNP |
| 1 | g.215766666A>C | CA2650502856 | USH2A | c.11047+15T>G (n.11047+15T>G) | gnomAD v4 |
| 1 | g.215766666A>T | CA2650502857 | USH2A | c.11047+15T>A (n.11047+15T>A) | ClinVar gnomAD v4 |
| 1 | g.215766666_215766667delinsAT | CA1220412652 | USH2A | c.11047+14_11047+15delinsAT (n.11047+14_11047+15delinsAT) | |
| 1 | g.215766667del | CA1220412655 | USH2A | c.11047+14del (n.11047+14del) | ClinVar dbSNP |
| 1 | g.215766667T>C | CA2650502858 | USH2A | c.11047+14A>G (n.11047+14A>G) | gnomAD v4 |
| 1 | g.215766668A>G | CA2650502859 | USH2A | c.11047+13T>C (n.11047+13T>C) | gnomAD v4 |
| 1 | g.215766669T>C | CA1393841 | USH2A | c.11047+12A>G (n.11047+12A>G) | dbSNP ExAC |
| 1 | g.215766669T>G | CA1393842 | USH2A | c.11047+12A>C (n.11047+12A>C) | dbSNP ExAC |
| 1 | g.215766669T= | CA1143710361 | USH2A | c.11047+12A= (n.11047+12A=) | |
| 1 | g.215766670T>G | CA2650502860 | USH2A | c.11047+11A>C (n.11047+11A>C) | gnomAD v4 |
| 1 | g.215766671G>A | CA1393843 | USH2A | c.11047+10C>T (n.11047+10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215766671G= | CA1220412667 | USH2A | c.11047+10C= (n.11047+10C=) | |
| 1 | g.215766671G>T | CA2499214455 | USH2A | c.11047+10C>A (n.11047+10C>A) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215766672T>C | CA2573131581 | USH2A | c.11047+9A>G (n.11047+9A>G) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215766674dup | CA2839451575 | USH2A | c.11047+9dup (n.11047+9dup) | |
| 1 | g.215766675C= | CA1148717013 | USH2A | c.11047+6G= (n.11047+6G=) | |
| 1 | g.215766675C>T | CA1393844 | USH2A | c.11047+6G>A (n.11047+6G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215766676A= | CA1220412674 | USH2A | c.11047+5T= (n.11047+5T=) | |
| 1 | g.215766676A>C | CA528709856 | USH2A | c.11047+5T>G (n.11047+5T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215766676A>G | CA2650502861 | USH2A | c.11047+5T>C (n.11047+5T>C) | gnomAD v4 |
| 1 | g.215766679A>C | CA344826610 | USH2A | c.11047+2T>G (n.11047+2T>G) | |
| 1 | g.215766679A>G | CA344826612 | USH2A | c.11047+2T>C (n.11047+2T>C) | |
| 1 | g.215766679A>T | CA344826615 | USH2A | c.11047+2T>A (n.11047+2T>A) | |
| 1 | g.215766680C>A | CA344826621 | USH2A | c.11047+1G>T (n.11047+1G>T) | |
| 1 | g.215766680C= | CA1143502507 | USH2A | c.11047+1G= (n.11047+1G=) | |
| 1 | g.215766680C>G | CA344826624 | USH2A | c.11047+1G>C (n.11047+1G>C) | |
| 1 | g.215766680C>T | CA16609670 | USH2A | c.11047+1G>A (n.11047+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215766681C>A | CA344826635 | USH2A | c.11047G>T (p.Gly3683Ter) | |
| 1 | g.215766681C>G | CA344826638 | USH2A | c.11047G>C (p.Gly3683Arg) | |
| 1 | g.215766681C>T | CA344826641 | USH2A | c.11047G>A (p.Gly3683Arg) | |
| 1 | g.215766682T>A | CA344826643 | USH2A | c.11046A>T (p.Glu3682Asp) | |
| 1 | g.215766682T>C | CA423312079 | USH2A | c.11046A>G (p.Glu3682=) | |
| 1 | g.215766682T>G | CA344826642 | USH2A | c.11046A>C (p.Glu3682Asp) | |
| 1 | g.215766683dup | CA2650502862 | USH2A | c.11046dup (p.Gly3683ArgfsTer?) | gnomAD v4 |
| 1 | g.215766683T>A | CA344826644 | USH2A | c.11045A>T (p.Glu3682Val) | COSMIC COSMIC |
| 1 | g.215766683T>C | CA344826647 | USH2A | c.11045A>G (p.Glu3682Gly) | |
| 1 | g.215766683T>G | CA344826645 | USH2A | c.11045A>C (p.Glu3682Ala) | |
| 1 | g.215766684C>A | CA344826657 | USH2A | c.11044G>T (p.Glu3682Ter) | |
| 1 | g.215766684C>G | CA344826659 | USH2A | c.11044G>C (p.Glu3682Gln) | COSMIC COSMIC |
| 1 | g.215766684C>T | CA344826658 | USH2A | c.11044G>A (p.Glu3682Lys) | COSMIC COSMIC |
| 1 | g.215766685A>C | CA423312091 | USH2A | c.11043T>G (p.Pro3681=) | |
| 1 | g.215766685A>G | CA423312093 | USH2A | c.11043T>C (p.Pro3681=) | |
| 1 | g.215766685A>T | CA423312094 | USH2A | c.11043T>A (p.Pro3681=) | |
| 1 | g.215766686G>A | CA344826660 | USH2A | c.11042C>T (p.Pro3681Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215766686G>C | CA344826661 | USH2A | c.11042C>G (p.Pro3681Arg) | |
| 1 | g.215766686G= | CA1220412680 | USH2A | c.11042C= (p.Pro3681=) | |
| 1 | g.215766686G>T | CA344826662 | USH2A | c.11042C>A (p.Pro3681His) | |
| 1 | g.215766687G>A | CA344826665 | USH2A | c.11041C>T (p.Pro3681Ser) | gnomAD v4 |
| 1 | g.215766687G>C | CA344826667 | USH2A | c.11041C>G (p.Pro3681Ala) | gnomAD v4 |
| 1 | g.215766687G>T | CA344826670 | USH2A | c.11041C>A (p.Pro3681Thr) | |
| 1 | g.215766688A>C | CA423312104 | USH2A | c.11040T>G (p.Ala3680=) | |
| 1 | g.215766688A>G | CA423312106 | USH2A | c.11040T>C (p.Ala3680=) | gnomAD v4 |
| 1 | g.215766688A>T | CA423312107 | USH2A | c.11040T>A (p.Ala3680=) | |
| 1 | g.215766689G>A | CA37429040 | USH2A | c.11039C>T (p.Ala3680Val) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215766689G>C | CA344826673 | USH2A | c.11039C>G (p.Ala3680Gly) | |
| 1 | g.215766689G= | CA1220412685 | USH2A | c.11039C= (p.Ala3680=) | |
| 1 | g.215766689G>T | CA344826674 | USH2A | c.11039C>A (p.Ala3680Asp) | |
| 1 | g.215766690C>A | CA344826677 | USH2A | c.11038G>T (p.Ala3680Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215766690C= | CA1220412690 | USH2A | c.11038G= (p.Ala3680=) | |
| 1 | g.215766690C>G | CA344826678 | USH2A | c.11038G>C (p.Ala3680Pro) | gnomAD v4 |
| 1 | g.215766690C>T | CA344826679 | USH2A | c.11038G>A (p.Ala3680Thr) | |
| 1 | g.215766691T>A | CA423312113 | USH2A | c.11037A>T (p.Ala3679=) | |
| 1 | g.215766691T>C | CA423312116 | USH2A | c.11037A>G (p.Ala3679=) | ClinVar |
| 1 | g.215766691T>G | CA423312115 | USH2A | c.11037A>C (p.Ala3679=) | |
| 1 | g.215766692G>A | CA1393845 | USH2A | c.11036C>T (p.Ala3679Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215766692G>C | CA344826688 | USH2A | c.11036C>G (p.Ala3679Gly) | |
| 1 | g.215766692G= | CA1220412693 | USH2A | c.11036C= (p.Ala3679=) | |
| 1 | g.215766692G>T | CA344826681 | USH2A | c.11036C>A (p.Ala3679Glu) | |
| 1 | g.215766693C>A | CA344826702 | USH2A | c.11035G>T (p.Ala3679Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215766693C= | CA1220412696 | USH2A | c.11035G= (p.Ala3679=) | |
| 1 | g.215766693C>G | CA344826723 | USH2A | c.11035G>C (p.Ala3679Pro) | |
| 1 | g.215766693C>T | CA344826726 | USH2A | c.11035G>A (p.Ala3679Thr) | gnomAD v4 |
| 1 | g.215766694C>A | CA344826732 | USH2A | c.11034G>T (p.Gln3678His) | |
| 1 | g.215766694C= | CA1220412699 | USH2A | c.11034G= (p.Gln3678=) | |
| 1 | g.215766694C>G | CA344826735 | USH2A | c.11034G>C (p.Gln3678His) | |
| 1 | g.215766694C>T | CA1393846 | USH2A | c.11034G>A (p.Gln3678=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215766695T>A | CA344826739 | USH2A | c.11033A>T (p.Gln3678Leu) | |
| 1 | g.215766695T>C | CA344826741 | USH2A | c.11033A>G (p.Gln3678Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215766695T>G | CA344826745 | USH2A | c.11033A>C (p.Gln3678Pro) | |
| 1 | g.215766695T= | CA1220412701 | USH2A | c.11033A= (p.Gln3678=) | |
| 1 | g.215766696G>A | CA344826748 | USH2A | c.11032C>T (p.Gln3678Ter) | |
| 1 | g.215766696G>C | CA344826751 | USH2A | c.11032C>G (p.Gln3678Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215766696G= | CA1220412705 | USH2A | c.11032C= (p.Gln3678=) | |
| 1 | g.215766696G>T | CA344826747 | USH2A | c.11032C>A (p.Gln3678Lys) | gnomAD v4 |
| 1 | g.215766697C>A | CA423312131 | USH2A | c.11031G>T (p.Leu3677=) | |
| 1 | g.215766697C>G | CA423312133 | USH2A | c.11031G>C (p.Leu3677=) | |
| 1 | g.215766697C>T | CA423312134 | USH2A | c.11031G>A (p.Leu3677=) | |
| 1 | g.215766698A= | CA1220412707 | USH2A | c.11030T= (p.Leu3677=) | |
| 1 | g.215766698A>C | CA344826768 | USH2A | c.11030T>G (p.Leu3677Arg) | |
| 1 | g.215766698A>G | CA37429050 | USH2A | c.11030T>C (p.Leu3677Pro) | dbSNP gnomAD v4 |
| 1 | g.215766698A>T | CA344826791 | USH2A | c.11030T>A (p.Leu3677Gln) | |
| 1 | g.215766699G>A | CA1393847 | USH2A | c.11029C>T (p.Leu3677=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215766699G>C | CA344826795 | USH2A | c.11029C>G (p.Leu3677Val) | |
| 1 | g.215766699G= | CA1220412708 | USH2A | c.11029C= (p.Leu3677=) | |
| 1 | g.215766699G>T | CA344826796 | USH2A | c.11029C>A (p.Leu3677Met) | |
| 1 | g.215766700T>A | CA423312146 | USH2A | c.11028A>T (p.Thr3676=) | |
| 1 | g.215766700T>C | CA423312148 | USH2A | c.11028A>G (p.Thr3676=) | ClinVar gnomAD v4 |
| 1 | g.215766700T>G | CA423312149 | USH2A | c.11028A>C (p.Thr3676=) | |
| 1 | g.215766701G>A | CA344826807 | USH2A | c.11027C>T (p.Thr3676Ile) | |
| 1 | g.215766701G>C | CA344826800 | USH2A | c.11027C>G (p.Thr3676Arg) | |
| 1 | g.215766701G>T | CA344826805 | USH2A | c.11027C>A (p.Thr3676Lys) | |
| 1 | g.215766702T>A | CA344826821 | USH2A | c.11026A>T (p.Thr3676Ser) | |
| 1 | g.215766702T>C | CA37429056 | USH2A | c.11026A>G (p.Thr3676Ala) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215766702T>G | CA344826828 | USH2A | c.11026A>C (p.Thr3676Pro) | |
| 1 | g.215766702T= | CA1220412711 | USH2A | c.11026A= (p.Thr3676=) | |
| 1 | g.215766703C>A | CA344826840 | USH2A | c.11025G>T (p.Gln3675His) | COSMIC COSMIC |
| 1 | g.215766703C= | CA1220412717 | USH2A | c.11025G= (p.Gln3675=) | |
| 1 | g.215766703C>G | CA344826848 | USH2A | c.11025G>C (p.Gln3675His) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215766703C>T | CA423312161 | USH2A | c.11025G>A (p.Gln3675=) | |
| 1 | g.215766704T>A | CA344826854 | USH2A | c.11024A>T (p.Gln3675Leu) | |
| 1 | g.215766704T>C | CA344826869 | USH2A | c.11024A>G (p.Gln3675Arg) | |
| 1 | g.215766704T>G | CA344826863 | USH2A | c.11024A>C (p.Gln3675Pro) | |
| 1 | g.215766705G>A | CA344826870 | USH2A | c.11023C>T (p.Gln3675Ter) | |
| 1 | g.215766705G>C | CA344826871 | USH2A | c.11023C>G (p.Gln3675Glu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215766705G>T | CA344826878 | USH2A | c.11023C>A (p.Gln3675Lys) | |
| 1 | g.215766706A>C | CA423312167 | USH2A | c.11022T>G (p.Gly3674=) | ClinVar |
| 1 | g.215766706A>G | CA423312169 | USH2A | c.11022T>C (p.Gly3674=) | |
| 1 | g.215766706A>T | CA423312171 | USH2A | c.11022T>A (p.Gly3674=) | |
| 1 | g.215766707C>A | CA344826883 | USH2A | c.11021G>T (p.Gly3674Val) | ClinVar |
| 1 | g.215766707C>G | CA344826887 | USH2A | c.11021G>C (p.Gly3674Ala) | gnomAD v4 |
| 1 | g.215766707C>T | CA344826890 | USH2A | c.11021G>A (p.Gly3674Asp) | |
| 1 | g.215766708C>A | CA344826893 | USH2A | c.11020G>T (p.Gly3674Cys) | |
| 1 | g.215766708C>G | CA344826895 | USH2A | c.11020G>C (p.Gly3674Arg) | |
| 1 | g.215766708C>T | CA344826900 | USH2A | c.11020G>A (p.Gly3674Ser) | |
| 1 | g.215766709T>A | CA423312179 | USH2A | c.11019A>T (p.Leu3673=) | |
| 1 | g.215766709T>C | CA423312182 | USH2A | c.11019A>G (p.Leu3673=) | gnomAD v4 |
| 1 | g.215766709T>G | CA423312184 | USH2A | c.11019A>C (p.Leu3673=) | |
| 1 | g.215766710A>C | CA344826905 | USH2A | c.11018T>G (p.Leu3673Arg) | |
| 1 | g.215766710A>G | CA344826906 | USH2A | c.11018T>C (p.Leu3673Pro) | |
| 1 | g.215766710A>T | CA344826909 | USH2A | c.11018T>A (p.Leu3673Gln) | |
| 1 | g.215766711G>A | CA423312187 | USH2A | c.11017C>T (p.Leu3673=) | |
| 1 | g.215766711G>C | CA344826919 | USH2A | c.11017C>G (p.Leu3673Val) | |
| 1 | g.215766711G>T | CA344826922 | USH2A | c.11017C>A (p.Leu3673Ile) | |
| 1 | g.215766712A>C | CA344826926 | USH2A | c.11016T>G (p.Phe3672Leu) | |
| 1 | g.215766712A>G | CA423312191 | USH2A | c.11016T>C (p.Phe3672=) | |
| 1 | g.215766712A>T | CA344826937 | USH2A | c.11016T>A (p.Phe3672Leu) | |
| 1 | g.215766713A= | CA1220412720 | USH2A | c.11015T= (p.Phe3672=) | |
| 1 | g.215766713A>C | CA1393848 | USH2A | c.11015T>G (p.Phe3672Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215766713A>G | CA344826946 | USH2A | c.11015T>C (p.Phe3672Ser) | |
| 1 | g.215766713A>T | CA344826948 | USH2A | c.11015T>A (p.Phe3672Tyr) | |
| 1 | g.215766714A>C | CA344826954 | USH2A | c.11014T>G (p.Phe3672Val) | |
| 1 | g.215766714A>G | CA344826956 | USH2A | c.11014T>C (p.Phe3672Leu) | |
| 1 | g.215766714A>T | CA344826959 | USH2A | c.11014T>A (p.Phe3672Ile) | |
| 1 | g.215766715A= | CA1220412723 | USH2A | c.11013T= (p.Pro3671=) | |
| 1 | g.215766715A>C | CA1393849 | USH2A | c.11013T>G (p.Pro3671=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215766715A>G | CA423312196 | USH2A | c.11013T>C (p.Pro3671=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215766715A>T | CA423312194 | USH2A | c.11013T>A (p.Pro3671=) | |
| 1 | g.215766715_215766716delinsAG | CA1220412726 | USH2A | c.11012_11013delinsCT (p.Pro3671=) | |
| 1 | g.215766716G>A | CA344826964 | USH2A | c.11012C>T (p.Pro3671Leu) | ClinVar dbSNP |
| 1 | g.215766716G>C | CA344826966 | USH2A | c.11012C>G (p.Pro3671Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215766716G= | CA1220412727 | USH2A | c.11012C= (p.Pro3671=) | |
| 1 | g.215766716G>T | CA344826967 | USH2A | c.11012C>A (p.Pro3671His) | |
| 1 | g.215766717del | CA528709857 | USH2A | c.11012del (p.Pro3671LeufsTer3) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215766717G>A | CA344826972 | USH2A | c.11011C>T (p.Pro3671Ser) | |
| 1 | g.215766717G>C | CA344826982 | USH2A | c.11011C>G (p.Pro3671Ala) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215766717G= | CA1220412731 | USH2A | c.11011C= (p.Pro3671=) | |
| 1 | g.215766717G>T | CA344826990 | USH2A | c.11011C>A (p.Pro3671Thr) | gnomAD v4 |
| 1 | g.215766718C>A | CA344826996 | USH2A | c.11010G>T (p.Glu3670Asp) | COSMIC COSMIC |
| 1 | g.215766718C>G | CA344826994 | USH2A | c.11010G>C (p.Glu3670Asp) | |
| 1 | g.215766718C>T | CA423312202 | USH2A | c.11010G>A (p.Glu3670=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.215766719T>A | CA344826998 | USH2A | c.11009A>T (p.Glu3670Val) | |
| 1 | g.215766719T>C | CA344827001 | USH2A | c.11009A>G (p.Glu3670Gly) | |
| 1 | g.215766719T>G | CA344827003 | USH2A | c.11009A>C (p.Glu3670Ala) | |
| 1 | g.215766720C>A | CA344827004 | USH2A | c.11008G>T (p.Glu3670Ter) | |
| 1 | g.215766720C= | CA1141750056 | USH2A | c.11008G= (p.Glu3670=) | |
| 1 | g.215766720C>G | CA1393850 | USH2A | c.11008G>C (p.Glu3670Gln) | dbSNP ExAC gnomAD v2 |
| 1 | g.215766720C>T | CA143243 | USH2A | c.11008G>A (p.Glu3670Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215766721G>A | CA1393851 | USH2A | c.11007C>T (p.Ser3669=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215766721G>C | CA344827011 | USH2A | c.11007C>G (p.Ser3669Arg) | |
| 1 | g.215766721G= | CA1220412743 | USH2A | c.11007C= (p.Ser3669=) | |
| 1 | g.215766721G>T | CA344827014 | USH2A | c.11007C>A (p.Ser3669Arg) | gnomAD v4 |
| 1 | g.215766722C>A | CA344827019 | USH2A | c.11006G>T (p.Ser3669Ile) | |
| 1 | g.215766722C>G | CA344827048 | USH2A | c.11006G>C (p.Ser3669Thr) | |
| 1 | g.215766722C>T | CA344827051 | USH2A | c.11006G>A (p.Ser3669Asn) | |
| 1 | g.215766723T>A | CA344827055 | USH2A | c.11005A>T (p.Ser3669Cys) | |
| 1 | g.215766723T>C | CA344827054 | USH2A | c.11005A>G (p.Ser3669Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215766723T>G | CA344827053 | USH2A | c.11005A>C (p.Ser3669Arg) | |
| 1 | g.215766723T= | CA1220412746 | USH2A | c.11005A= (p.Ser3669=) | |
| 1 | g.215766724T>A | CA423312209 | USH2A | c.11004A>T (p.Ser3668=) | |
| 1 | g.215766724T>C | CA423312207 | USH2A | c.11004A>G (p.Ser3668=) | ClinVar |
| 1 | g.215766724T>G | CA423312210 | USH2A | c.11004A>C (p.Ser3668=) | |
| 1 | g.215766725G>A | CA344827058 | USH2A | c.11003C>T (p.Ser3668Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215766725G>C | CA344827062 | USH2A | c.11003C>G (p.Ser3668Ter) | |
| 1 | g.215766725G= | CA1220412749 | USH2A | c.11003C= (p.Ser3668=) | |
| 1 | g.215766725G>T | CA344827063 | USH2A | c.11003C>A (p.Ser3668Ter) | |
| 1 | g.215766726A>C | CA344827064 | USH2A | c.11002T>G (p.Ser3668Ala) | |
| 1 | g.215766726A>G | CA344827067 | USH2A | c.11002T>C (p.Ser3668Pro) | |
| 1 | g.215766726A>T | CA344827069 | USH2A | c.11002T>A (p.Ser3668Thr) | |
| 1 | g.215766727A= | CA1220412752 | USH2A | c.11001T= (p.Thr3667=) | |
| 1 | g.215766727A>C | CA423312213 | USH2A | c.11001T>G (p.Thr3667=) | |
| 1 | g.215766727A>G | CA1393852 | USH2A | c.11001T>C (p.Thr3667=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215766727A>T | CA423312214 | USH2A | c.11001T>A (p.Thr3667=) | |
| 1 | g.215766728G>A | CA1393853 | USH2A | c.11000C>T (p.Thr3667Ile) | dbSNP ExAC gnomAD v2 |
| 1 | g.215766728G>C | CA344827080 | USH2A | c.11000C>G (p.Thr3667Ser) | |
| 1 | g.215766728G= | CA1143974313 | USH2A | c.11000C= (p.Thr3667=) | |
| 1 | g.215766728G>T | CA344827083 | USH2A | c.11000C>A (p.Thr3667Asn) | gnomAD v4 |
| 1 | g.215766729T>A | CA344827086 | USH2A | c.10999A>T (p.Thr3667Ser) | |
| 1 | g.215766729T>C | CA1393855 | USH2A | c.10999A>G (p.Thr3667Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215766729T>G | CA1393854 | USH2A | c.10999A>C (p.Thr3667Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215766729T= | CA1142388551 | USH2A | c.10999A= (p.Thr3667=) | |
| 1 | g.215766730G>A | CA423312216 | USH2A | c.10998C>T (p.Cys3666=) | ClinVar |
| 1 | g.215766730G>C | CA344827095 | USH2A | c.10998C>G (p.Cys3666Trp) | |
| 1 | g.215766730G= | CA1220412762 | USH2A | c.10998C= (p.Cys3666=) | |
| 1 | g.215766730G>T | CA344827092 | USH2A | c.10998C>A (p.Cys3666Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215766731C>A | CA344827099 | USH2A | c.10997G>T (p.Cys3666Phe) | |
| 1 | g.215766731C>G | CA344827100 | USH2A | c.10997G>C (p.Cys3666Ser) | |
| 1 | g.215766731C>T | CA344827101 | USH2A | c.10997G>A (p.Cys3666Tyr) | |
| 1 | g.215766732A= | CA1220412767 | USH2A | c.10996T= (p.Cys3666=) | |
| 1 | g.215766732A>C | CA1393856 | USH2A | c.10996T>G (p.Cys3666Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215766732A>G | CA344827107 | USH2A | c.10996T>C (p.Cys3666Arg) | |
| 1 | g.215766732A>T | CA344827117 | USH2A | c.10996T>A (p.Cys3666Ser) | |
| 1 | g.215766733C>A | CA423312218 | USH2A | c.10995G>T (p.Gly3665=) | |
| 1 | g.215766733C= | CA1220412770 | USH2A | c.10995G= (p.Gly3665=) | |
| 1 | g.215766733C>G | CA423312219 | USH2A | c.10995G>C (p.Gly3665=) | ClinVar |
| 1 | g.215766733C>T | CA1393857 | USH2A | c.10995G>A (p.Gly3665=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215766734C>A | CA344827129 | USH2A | c.10994G>T (p.Gly3665Val) | COSMIC |
| 1 | g.215766734C= | CA1220412772 | USH2A | c.10994G= (p.Gly3665=) | |
| 1 | g.215766734C>G | CA344827132 | USH2A | c.10994G>C (p.Gly3665Ala) | gnomAD v4 |
| 1 | g.215766734C>T | CA344827135 | USH2A | c.10994G>A (p.Gly3665Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |