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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.216246505del | CA2650512821 | USH2A | c.2809+82del (n.2809+82del) | gnomAD v4 |
| 1 | g.216246504A>C | CA2574001320 | USH2A | c.2809+81T>G (n.2809+81T>G) | |
| 1 | g.216246505A= | CA1220619026 | USH2A | c.2809+80T= (n.2809+80T=) | |
| 1 | g.216246505A>G | CA1012229910 | USH2A | c.2809+80T>C (n.2809+80T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246506C>T | CA2650512822 | USH2A | c.2809+79G>A (n.2809+79G>A) | gnomAD v4 |
| 1 | g.216246513C>A | CA2574001323 | USH2A | c.2809+72G>T (n.2809+72G>T) | gnomAD v4 |
| 1 | g.216246514A= | CA1143176659 | USH2A | c.2809+71T= (n.2809+71T=) | |
| 1 | g.216246514A>T | CA37500908 | USH2A | c.2809+71T>A (n.2809+71T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246515G>A | CA1220619028 | USH2A | c.2809+70C>T (n.2809+70C>T) | dbSNP gnomAD v4 |
| 1 | g.216246515G= | CA1220619027 | USH2A | c.2809+70C= (n.2809+70C=) | |
| 1 | g.216246515G>T | CA2574001375 | USH2A | c.2809+70C>A (n.2809+70C>A) | gnomAD v4 |
| 1 | g.216246516G>A | CA2650512824 | USH2A | c.2809+69C>T (n.2809+69C>T) | gnomAD v4 |
| 1 | g.216246517_216246531del | CA2650512823 | USH2A | c.2809+55_2809+69del (n.2809+55_2809+69del) | gnomAD v4 |
| 1 | g.216246517G>A | CA731430829 | USH2A | c.2809+68C>T (n.2809+68C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246517G= | CA1220619029 | USH2A | c.2809+68C= (n.2809+68C=) | |
| 1 | g.216246518A>G | CA2650512825 | USH2A | c.2809+67T>C (n.2809+67T>C) | gnomAD v4 |
| 1 | g.216246519G>A | CA2650512826 | USH2A | c.2809+66C>T (n.2809+66C>T) | gnomAD v4 |
| 1 | g.216246520A>G | CA2650512827 | USH2A | c.2809+65T>C (n.2809+65T>C) | gnomAD v4 |
| 1 | g.216246521A>G | CA2650512828 | USH2A | c.2809+64T>C (n.2809+64T>C) | gnomAD v4 |
| 1 | g.216246522G>A | CA2650512829 | USH2A | c.2809+63C>T (n.2809+63C>T) | gnomAD v4 |
| 1 | g.216246523T>G | CA2650512830 | USH2A | c.2809+62A>C (n.2809+62A>C) | gnomAD v4 |
| 1 | g.216246526C>A | CA1012229917 | USH2A | c.2809+59G>T (n.2809+59G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246526C= | CA1220619030 | USH2A | c.2809+59G= (n.2809+59G=) | |
| 1 | g.216246526C>G | CA2650512831 | USH2A | c.2809+59G>C (n.2809+59G>C) | gnomAD v4 |
| 1 | g.216246526C>T | CA2574001397 | USH2A | c.2809+59G>A (n.2809+59G>A) | gnomAD v4 |
| 1 | g.216246527_216246532del | CA2650512832 | USH2A | c.2809+53_2809+58del (n.2809+53_2809+58del) | gnomAD v4 |
| 1 | g.216246528T>A | CA2650512833 | USH2A | c.2809+57A>T (n.2809+57A>T) | gnomAD v4 |
| 1 | g.216246528T>C | CA2650512834 | USH2A | c.2809+57A>G (n.2809+57A>G) | gnomAD v4 |
| 1 | g.216246530A= | CA1220619032 | USH2A | c.2809+55T= (n.2809+55T=) | |
| 1 | g.216246530A>C | CA1220619031 | USH2A | c.2809+55T>G (n.2809+55T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246532T>C | CA1220619034 | USH2A | c.2809+53A>G (n.2809+53A>G) | dbSNP |
| 1 | g.216246532T= | CA1220619033 | USH2A | c.2809+53A= (n.2809+53A=) | |
| 1 | g.216246534A>G | CA2650512835 | USH2A | c.2809+51T>C (n.2809+51T>C) | gnomAD v4 |
| 1 | g.216246536C>A | CA1396155 | USH2A | c.2809+49G>T (n.2809+49G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246536C= | CA1220619035 | USH2A | c.2809+49G= (n.2809+49G=) | |
| 1 | g.216246536C>T | CA2574001406 | USH2A | c.2809+49G>A (n.2809+49G>A) | |
| 1 | g.216246537A>C | CA2650512836 | USH2A | c.2809+48T>G (n.2809+48T>G) | gnomAD v4 |
| 1 | g.216246538A= | CA1220619036 | USH2A | c.2809+47T= (n.2809+47T=) | |
| 1 | g.216246538A>G | CA1220619037 | USH2A | c.2809+47T>C (n.2809+47T>C) | dbSNP |
| 1 | g.216246540A>C | CA2650512837 | USH2A | c.2809+45T>G (n.2809+45T>G) | gnomAD v4 |
| 1 | g.216246542G>C | CA1396157 | USH2A | c.2809+43C>G (n.2809+43C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246542G= | CA1220619038 | USH2A | c.2809+43C= (n.2809+43C=) | |
| 1 | g.216246542G>T | CA1396156 | USH2A | c.2809+43C>A (n.2809+43C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246544A>G | CA2650512838 | USH2A | c.2809+41T>C (n.2809+41T>C) | gnomAD v4 |
| 1 | g.216246545T>C | CA2539023631 | USH2A | c.2809+40A>G (n.2809+40A>G) | gnomAD v4 |
| 1 | g.216246548C>T | CA2650512839 | USH2A | c.2809+37G>A (n.2809+37G>A) | gnomAD v4 |
| 1 | g.216246550T>C | CA37500935 | USH2A | c.2809+35A>G (n.2809+35A>G) | dbSNP gnomAD v4 |
| 1 | g.216246550T= | CA1220619039 | USH2A | c.2809+35A= (n.2809+35A=) | |
| 1 | g.216246555C>A | CA529002685 | USH2A | c.2809+30G>T (n.2809+30G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246555C= | CA1220619040 | USH2A | c.2809+30G= (n.2809+30G=) | |
| 1 | g.216246555C>T | CA529002686 | USH2A | c.2809+30G>A (n.2809+30G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246556A= | CA1220619041 | USH2A | c.2809+29T= (n.2809+29T=) | |
| 1 | g.216246556A>C | CA529002687 | USH2A | c.2809+29T>G (n.2809+29T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246556A>G | CA731430850 | USH2A | c.2809+29T>C (n.2809+29T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246556A>T | CA2574001413 | USH2A | c.2809+29T>A (n.2809+29T>A) | |
| 1 | g.216246557C>A | CA2650512840 | USH2A | c.2809+28G>T (n.2809+28G>T) | gnomAD v4 |
| 1 | g.216246557C= | CA1220619042 | USH2A | c.2809+28G= (n.2809+28G=) | |
| 1 | g.216246557C>G | CA529002688 | USH2A | c.2809+28G>C (n.2809+28G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246558T>A | CA1396158 | USH2A | c.2809+27A>T (n.2809+27A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246558T= | CA1141926689 | USH2A | c.2809+27A= (n.2809+27A=) | |
| 1 | g.216246559G>A | CA1396159 | USH2A | c.2809+26C>T (n.2809+26C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246559G= | CA1143925975 | USH2A | c.2809+26C= (n.2809+26C=) | |
| 1 | g.216246562A>T | CA2650512841 | USH2A | c.2809+23T>A (n.2809+23T>A) | gnomAD v4 |
| 1 | g.216246563A>G | CA2574001415 | USH2A | c.2809+22T>C (n.2809+22T>C) | |
| 1 | g.216246564T>C | CA2650512842 | USH2A | c.2809+21A>G (n.2809+21A>G) | gnomAD v4 |
| 1 | g.216246566dup | CA2650512843 | USH2A | c.2809+19dup (n.2809+19dup) | gnomAD v4 |
| 1 | g.216246569T>C | CA2650512844 | USH2A | c.2809+16A>G (n.2809+16A>G) | gnomAD v4 |
| 1 | g.216246571C>A | CA2747735774 | USH2A | c.2809+14G>T (n.2809+14G>T) | |
| 1 | g.216246571C= | CA1220619043 | USH2A | c.2809+14G= (n.2809+14G=) | |
| 1 | g.216246571C>T | CA1220619044 | USH2A | c.2809+14G>A (n.2809+14G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246572A= | CA1220619045 | USH2A | c.2809+13T= (n.2809+13T=) | |
| 1 | g.216246572A>T | CA1396160 | USH2A | c.2809+13T>A (n.2809+13T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246573T>C | CA529002689 | USH2A | c.2809+12A>G (n.2809+12A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246573T>G | CA529002690 | USH2A | c.2809+12A>C (n.2809+12A>C) | dbSNP gnomAD v2 |
| 1 | g.216246573T= | CA1220619046 | USH2A | c.2809+12A= (n.2809+12A=) | |
| 1 | g.216246575T>A | CA2650512845 | USH2A | c.2809+10A>T (n.2809+10A>T) | gnomAD v4 |
| 1 | g.216246575T>C | CA2650512846 | USH2A | c.2809+10A>G (n.2809+10A>G) | ClinVar gnomAD v4 |
| 1 | g.216246575T>G | CA2573132754 | USH2A | c.2809+10A>C (n.2809+10A>C) | ClinVar dbSNP |
| 1 | g.216246576C>A | CA529002691 | USH2A | c.2809+9G>T (n.2809+9G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216246576C= | CA1220619047 | USH2A | c.2809+9G= (n.2809+9G=) | |
| 1 | g.216246576C>T | CA1396161 | USH2A | c.2809+9G>A (n.2809+9G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246583A= | CA1220619048 | USH2A | c.2809+2T= (n.2809+2T=) | |
| 1 | g.216246583A>C | CA344863985 | USH2A | c.2809+2T>G (n.2809+2T>G) | |
| 1 | g.216246583A>G | CA344863984 | USH2A | c.2809+2T>C (n.2809+2T>C) | |
| 1 | g.216246583A>T | CA344863986 | USH2A | c.2809+2T>A (n.2809+2T>A) | ClinVar dbSNP |
| 1 | g.216246584C>A | CA344863987 | USH2A | c.2809+1G>T (n.2809+1G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246584C= | CA1220619049 | USH2A | c.2809+1G= (n.2809+1G=) | |
| 1 | g.216246584C>G | CA344863988 | USH2A | c.2809+1G>C (n.2809+1G>C) | ClinVar dbSNP |
| 1 | g.216246584C>T | CA1396162 | USH2A | c.2809+1G>A (n.2809+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246585C>A | CA344863989 | USH2A | c.2809G>T (p.Gly937Cys) | |
| 1 | g.216246585C>G | CA344863990 | USH2A | c.2809G>C (p.Gly937Arg) | gnomAD v4 |
| 1 | g.216246585C>T | CA344863991 | USH2A | c.2809G>A (p.Gly937Ser) | gnomAD v4 |
| 1 | g.216246586T>A | CA423322177 | USH2A | c.2808A>T (p.Pro936=) | |
| 1 | g.216246586T>C | CA423322179 | USH2A | c.2808A>G (p.Pro936=) | |
| 1 | g.216246586T>G | CA423322178 | USH2A | c.2808A>C (p.Pro936=) | |
| 1 | g.216246587G>A | CA344863992 | USH2A | c.2807C>T (p.Pro936Leu) | gnomAD v4 |
| 1 | g.216246587G>C | CA344863993 | USH2A | c.2807C>G (p.Pro936Arg) | |
| 1 | g.216246587G>T | CA344863994 | USH2A | c.2807C>A (p.Pro936Gln) | |
| 1 | g.216246588G>A | CA344863995 | USH2A | c.2806C>T (p.Pro936Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246588G>C | CA344863996 | USH2A | c.2806C>G (p.Pro936Ala) | |
| 1 | g.216246588G= | CA1220619050 | USH2A | c.2806C= (p.Pro936=) | |
| 1 | g.216246588G>T | CA344863997 | USH2A | c.2806C>A (p.Pro936Thr) | |
| 1 | g.216246589T>A | CA344863998 | USH2A | c.2805A>T (p.Gln935His) | |
| 1 | g.216246589T>C | CA423322180 | USH2A | c.2805A>G (p.Gln935=) | |
| 1 | g.216246589T>G | CA344863999 | USH2A | c.2805A>C (p.Gln935His) | |
| 1 | g.216246590T>A | CA344864002 | USH2A | c.2804A>T (p.Gln935Leu) | |
| 1 | g.216246590T>C | CA344864001 | USH2A | c.2804A>G (p.Gln935Arg) | |
| 1 | g.216246590T>G | CA344864000 | USH2A | c.2804A>C (p.Gln935Pro) | |
| 1 | g.216246591G>A | CA344864003 | USH2A | c.2803C>T (p.Gln935Ter) | COSMIC COSMIC COSMIC |
| 1 | g.216246591G>C | CA344864004 | USH2A | c.2803C>G (p.Gln935Glu) | |
| 1 | g.216246591G>T | CA344864005 | USH2A | c.2803C>A (p.Gln935Lys) | |
| 1 | g.216246592A= | CA1143489085 | USH2A | c.2802T= (p.Cys934=) | |
| 1 | g.216246592A>C | CA270152 | USH2A | c.2802T>G (p.Cys934Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246592A>G | CA423322181 | USH2A | c.2802T>C (p.Cys934=) | |
| 1 | g.216246592A>T | CA344864006 | USH2A | c.2802T>A (p.Cys934Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.216246593C>A | CA344864007 | USH2A | c.2801G>T (p.Cys934Phe) | dbSNP |
| 1 | g.216246593C= | CA1220619051 | USH2A | c.2801G= (p.Cys934=) | |
| 1 | g.216246593C>G | CA344864008 | USH2A | c.2801G>C (p.Cys934Ser) | |
| 1 | g.216246593C>T | CA344864009 | USH2A | c.2801G>A (p.Cys934Tyr) | |
| 1 | g.216246594A= | CA1144137397 | USH2A | c.2800T= (p.Cys934=) | |
| 1 | g.216246594A>C | CA344864010 | USH2A | c.2800T>G (p.Cys934Gly) | |
| 1 | g.216246594A>G | CA1396163 | USH2A | c.2800T>C (p.Cys934Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246594A>T | CA344864011 | USH2A | c.2800T>A (p.Cys934Ser) | |
| 1 | g.216246595C>A | CA37500955 | USH2A | c.2799G>T (p.Gln933His) | dbSNP |
| 1 | g.216246595C= | CA1220619052 | USH2A | c.2799G= (p.Gln933=) | |
| 1 | g.216246595C>G | CA344864012 | USH2A | c.2799G>C (p.Gln933His) | |
| 1 | g.216246595C>T | CA1396164 | USH2A | c.2799G>A (p.Gln933=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246596T>A | CA344864013 | USH2A | c.2798A>T (p.Gln933Leu) | |
| 1 | g.216246596T>C | CA37500964 | USH2A | c.2798A>G (p.Gln933Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246596T>G | CA344864014 | USH2A | c.2798A>C (p.Gln933Pro) | |
| 1 | g.216246596T= | CA1220619053 | USH2A | c.2798A= (p.Gln933=) | |
| 1 | g.216246597G>A | CA344864015 | USH2A | c.2797C>T (p.Gln933Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246597G>C | CA344864016 | USH2A | c.2797C>G (p.Gln933Glu) | |
| 1 | g.216246597G= | CA1220619054 | USH2A | c.2797C= (p.Gln933=) | |
| 1 | g.216246597G>T | CA344864017 | USH2A | c.2797C>A (p.Gln933Lys) | |
| 1 | g.216246598A= | CA1143673812 | USH2A | c.2796T= (p.Asn932=) | |
| 1 | g.216246598A>C | CA344864018 | USH2A | c.2796T>G (p.Asn932Lys) | |
| 1 | g.216246598A>G | CA423322182 | USH2A | c.2796T>C (p.Asn932=) | ClinVar dbSNP |
| 1 | g.216246598A>T | CA1396165 | USH2A | c.2796T>A (p.Asn932Lys) | dbSNP ExAC gnomAD v2 |
| 1 | g.216246599T>A | CA344864019 | USH2A | c.2795A>T (p.Asn932Ile) | |
| 1 | g.216246599T>C | CA344864020 | USH2A | c.2795A>G (p.Asn932Ser) | |
| 1 | g.216246599T>G | CA344864021 | USH2A | c.2795A>C (p.Asn932Thr) | |
| 1 | g.216246600T>A | CA344864022 | USH2A | c.2794A>T (p.Asn932Tyr) | |
| 1 | g.216246600T>C | CA344864023 | USH2A | c.2794A>G (p.Asn932Asp) | |
| 1 | g.216246600T>G | CA344864024 | USH2A | c.2794A>C (p.Asn932His) | |
| 1 | g.216246601A= | CA1220619055 | USH2A | c.2793T= (p.Cys931=) | |
| 1 | g.216246601A>C | CA344864025 | USH2A | c.2793T>G (p.Cys931Trp) | |
| 1 | g.216246601A>G | CA423322183 | USH2A | c.2793T>C (p.Cys931=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.216246601A>T | CA344864026 | USH2A | c.2793T>A (p.Cys931Ter) | |
| 1 | g.216246602C>A | CA344864027 | USH2A | c.2792G>T (p.Cys931Phe) | |
| 1 | g.216246602C= | CA1142050579 | USH2A | c.2792G= (p.Cys931=) | |
| 1 | g.216246602C>G | CA344864028 | USH2A | c.2792G>C (p.Cys931Ser) | |
| 1 | g.216246602C>T | CA1396166 | USH2A | c.2792G>A (p.Cys931Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246603A= | CA1147569513 | USH2A | c.2791T= (p.Cys931=) | |
| 1 | g.216246603A>C | CA344864029 | USH2A | c.2791T>G (p.Cys931Gly) | |
| 1 | g.216246603A>G | CA344864030 | USH2A | c.2791T>C (p.Cys931Arg) | |
| 1 | g.216246603A>T | CA37500986 | USH2A | c.2791T>A (p.Cys931Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246604C>A | CA344864031 | USH2A | c.2790G>T (p.Arg930Ser) | ClinVar gnomAD v4 |
| 1 | g.216246604C= | CA1145181366 | USH2A | c.2790G= (p.Arg930=) | |
| 1 | g.216246604C>G | CA344864032 | USH2A | c.2790G>C (p.Arg930Ser) | |
| 1 | g.216246604C>T | CA37500990 | USH2A | c.2790G>A (p.Arg930=) | dbSNP gnomAD v3 gnomAD v4 |