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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.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 |
| 1 | g.216246605C>A | CA344864033 | USH2A | c.2789G>T (p.Arg930Met) | |
| 1 | g.216246605C>G | CA344864034 | USH2A | c.2789G>C (p.Arg930Thr) | gnomAD v4 |
| 1 | g.216246605C>T | CA344864035 | USH2A | c.2789G>A (p.Arg930Lys) | gnomAD v4 |
| 1 | g.216246606T>A | CA344864037 | USH2A | c.2788A>T (p.Arg930Trp) | ClinVar |
| 1 | g.216246606T>C | CA344864036 | USH2A | c.2788A>G (p.Arg930Gly) | |
| 1 | g.216246606T>G | CA423322184 | USH2A | c.2788A>C (p.Arg930=) | |
| 1 | g.216246607T>A | CA344864038 | USH2A | c.2787A>T (p.Arg929Ser) | |
| 1 | g.216246607T>C | CA1396167 | USH2A | c.2787A>G (p.Arg929=) | dbSNP ExAC gnomAD v2 |
| 1 | g.216246607T>G | CA344864039 | USH2A | c.2787A>C (p.Arg929Ser) | |
| 1 | g.216246607T= | CA1220619056 | USH2A | c.2787A= (p.Arg929=) | |
| 1 | g.216246608C>A | CA344864040 | USH2A | c.2786G>T (p.Arg929Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246608C= | CA1220619057 | USH2A | c.2786G= (p.Arg929=) | |
| 1 | g.216246608C>G | CA344864041 | USH2A | c.2786G>C (p.Arg929Thr) | |
| 1 | g.216246608C>T | CA37500997 | USH2A | c.2786G>A (p.Arg929Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246609T>A | CA344864042 | USH2A | c.2785A>T (p.Arg929Ter) | |
| 1 | g.216246609T>C | CA344864043 | USH2A | c.2785A>G (p.Arg929Gly) | gnomAD v4 |
| 1 | g.216246609T>G | CA423322185 | USH2A | c.2785A>C (p.Arg929=) | |
| 1 | g.216246610T>A | CA423322186 | USH2A | c.2784A>T (p.Gly928=) | |
| 1 | g.216246610T>C | CA423322187 | USH2A | c.2784A>G (p.Gly928=) | |
| 1 | g.216246610T>G | CA423322188 | USH2A | c.2784A>C (p.Gly928=) | |
| 1 | g.216246611C>A | CA344864044 | USH2A | c.2783G>T (p.Gly928Val) | |
| 1 | g.216246611C>G | CA344864045 | USH2A | c.2783G>C (p.Gly928Ala) | |
| 1 | g.216246611C>T | CA344864046 | USH2A | c.2783G>A (p.Gly928Glu) | gnomAD v4 |
| 1 | g.216246612C>A | CA344864047 | USH2A | c.2782G>T (p.Gly928Ter) | COSMIC COSMIC COSMIC |
| 1 | g.216246612C>G | CA344864048 | USH2A | c.2782G>C (p.Gly928Arg) | |
| 1 | g.216246612C>T | CA344864049 | USH2A | c.2782G>A (p.Gly928Arg) | |
| 1 | g.216246613T>A | CA344864051 | USH2A | c.2781A>T (p.Gln927His) | |
| 1 | g.216246613T>C | CA423322189 | USH2A | c.2781A>G (p.Gln927=) | gnomAD v4 |
| 1 | g.216246613T>G | CA344864050 | USH2A | c.2781A>C (p.Gln927His) | |
| 1 | g.216246614T>A | CA344864052 | USH2A | c.2780A>T (p.Gln927Leu) | |
| 1 | g.216246614T>C | CA344864053 | USH2A | c.2780A>G (p.Gln927Arg) | |
| 1 | g.216246614T>G | CA344864054 | USH2A | c.2780A>C (p.Gln927Pro) | gnomAD v4 |
| 1 | g.216246615G>A | CA344864055 | USH2A | c.2779C>T (p.Gln927Ter) | ClinVar dbSNP gnomAD v2 COSMIC COSMIC COSMIC |
| 1 | g.216246615G>C | CA344864056 | USH2A | c.2779C>G (p.Gln927Glu) | |
| 1 | g.216246615G= | CA1220619058 | USH2A | c.2779C= (p.Gln927=) | |
| 1 | g.216246615G>T | CA344864057 | USH2A | c.2779C>A (p.Gln927Lys) | |
| 1 | g.216246616A>C | CA423322190 | USH2A | c.2778T>G (p.Arg926=) | |
| 1 | g.216246616A>G | CA423322191 | USH2A | c.2778T>C (p.Arg926=) | |
| 1 | g.216246616A>T | CA423322192 | USH2A | c.2778T>A (p.Arg926=) | |
| 1 | g.216246617C>A | CA344864058 | USH2A | c.2777G>T (p.Arg926Leu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.216246617C= | CA1142146138 | USH2A | c.2777G= (p.Arg926=) | |
| 1 | g.216246617C>G | CA344864059 | USH2A | c.2777G>C (p.Arg926Pro) | |
| 1 | g.216246617C>T | CA143448 | USH2A | c.2777G>A (p.Arg926His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216246618G>A | CA1396169 | USH2A | c.2776C>T (p.Arg926Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216246618G>C | CA344864060 | USH2A | c.2776C>G (p.Arg926Gly) | |
| 1 | g.216246618G= | CA1149132084 | USH2A | c.2776C= (p.Arg926=) | |
| 1 | g.216246618G>T | CA1396168 | USH2A | c.2776C>A (p.Arg926Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246619A= | CA1220619059 | USH2A | c.2775T= (p.Asn925=) | |
| 1 | g.216246619A>C | CA344864062 | USH2A | c.2775T>G (p.Asn925Lys) | |
| 1 | g.216246619A>G | CA1396170 | USH2A | c.2775T>C (p.Asn925=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246619A>T | CA344864061 | USH2A | c.2775T>A (p.Asn925Lys) | |
| 1 | g.216246620T>A | CA344864063 | USH2A | c.2774A>T (p.Asn925Ile) | |
| 1 | g.216246620T>C | CA344864064 | USH2A | c.2774A>G (p.Asn925Ser) | |
| 1 | g.216246620T>G | CA344864065 | USH2A | c.2774A>C (p.Asn925Thr) | |
| 1 | g.216246621T>A | CA344864066 | USH2A | c.2773A>T (p.Asn925Tyr) | |
| 1 | g.216246621T>C | CA344864067 | USH2A | c.2773A>G (p.Asn925Asp) | dbSNP gnomAD v2 |
| 1 | g.216246621T>G | CA344864068 | USH2A | c.2773A>C (p.Asn925His) | gnomAD v4 |
| 1 | g.216246621T= | CA1220619060 | USH2A | c.2773A= (p.Asn925=) | |
| 1 | g.216246622A>C | CA423322193 | USH2A | c.2772T>G (p.Pro924=) | |
| 1 | g.216246622A>G | CA423322194 | USH2A | c.2772T>C (p.Pro924=) | |
| 1 | g.216246622A>T | CA423322195 | USH2A | c.2772T>A (p.Pro924=) | |
| 1 | g.216246623G>A | CA344864069 | USH2A | c.2771C>T (p.Pro924Leu) | |
| 1 | g.216246623G>C | CA344864070 | USH2A | c.2771C>G (p.Pro924Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246623G= | CA1220619061 | USH2A | c.2771C= (p.Pro924=) | |
| 1 | g.216246623G>T | CA344864071 | USH2A | c.2771C>A (p.Pro924His) | |
| 1 | g.216246624G>A | CA344864072 | USH2A | c.2770C>T (p.Pro924Ser) | |
| 1 | g.216246624G>C | CA344864073 | USH2A | c.2770C>G (p.Pro924Ala) | |
| 1 | g.216246624G>T | CA344864074 | USH2A | c.2770C>A (p.Pro924Thr) | |
| 1 | g.216246625C>A | CA423322197 | USH2A | c.2769G>T (p.Val923=) | |
| 1 | g.216246625C= | CA1146493866 | USH2A | c.2769G= (p.Val923=) | |
| 1 | g.216246625C>G | CA423322198 | USH2A | c.2769G>C (p.Val923=) | |
| 1 | g.216246625C>T | CA1396171 | USH2A | c.2769G>A (p.Val923=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246626A>C | CA344864077 | USH2A | c.2768T>G (p.Val923Gly) | |
| 1 | g.216246626A>G | CA344864076 | USH2A | c.2768T>C (p.Val923Ala) | |
| 1 | g.216246626A>T | CA344864075 | USH2A | c.2768T>A (p.Val923Glu) | |
| 1 | g.216246627C>A | CA344864078 | USH2A | c.2767G>T (p.Val923Leu) | |
| 1 | g.216246627C>G | CA344864079 | USH2A | c.2767G>C (p.Val923Leu) | |
| 1 | g.216246627C>T | CA344864080 | USH2A | c.2767G>A (p.Val923Met) | gnomAD v4 |
| 1 | g.216246628A>C | CA344864081 | USH2A | c.2766T>G (p.Cys922Trp) | |
| 1 | g.216246628A>G | CA423322211 | USH2A | c.2766T>C (p.Cys922=) | |
| 1 | g.216246628A>T | CA344864082 | USH2A | c.2766T>A (p.Cys922Ter) | ClinVar |
| 1 | g.216246629C>A | CA344864083 | USH2A | c.2765G>T (p.Cys922Phe) | |
| 1 | g.216246629C>G | CA344864084 | USH2A | c.2765G>C (p.Cys922Ser) | |
| 1 | g.216246629C>T | CA344864085 | USH2A | c.2765G>A (p.Cys922Tyr) | gnomAD v4 |
| 1 | g.216246630A>C | CA344864086 | USH2A | c.2764T>G (p.Cys922Gly) | |
| 1 | g.216246630A>G | CA344864087 | USH2A | c.2764T>C (p.Cys922Arg) | gnomAD v4 |
| 1 | g.216246630A>T | CA344864088 | USH2A | c.2764T>A (p.Cys922Ser) | |
| 1 | g.216246631C>A | CA423322225 | USH2A | c.2763G>T (p.Leu921=) | gnomAD v4 |
| 1 | g.216246631C>G | CA423322223 | USH2A | c.2763G>C (p.Leu921=) | |
| 1 | g.216246631C>T | CA423322221 | USH2A | c.2763G>A (p.Leu921=) | dbSNP gnomAD v4 |
| 1 | g.216246632A>C | CA344864089 | USH2A | c.2762T>G (p.Leu921Arg) | |
| 1 | g.216246632A>G | CA344864090 | USH2A | c.2762T>C (p.Leu921Pro) | |
| 1 | g.216246632A>T | CA344864091 | USH2A | c.2762T>A (p.Leu921Gln) | |
| 1 | g.216246632_216246633delinsAG | CA1220619062 | USH2A | c.2761_2762delinsCT (p.Leu921=) | |
| 1 | g.216246633G>A | CA1396172 | USH2A | c.2761C>T (p.Leu921=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246633G>C | CA344864092 | USH2A | c.2761C>G (p.Leu921Val) | gnomAD v4 |
| 1 | g.216246633G= | CA1220619063 | USH2A | c.2761C= (p.Leu921=) | |
| 1 | g.216246633G>T | CA1396173 | USH2A | c.2761C>A (p.Leu921Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246634del | CA916082142 | USH2A | c.2761del (p.Leu921CysfsTer?) | ClinVar dbSNP |
| 1 | g.216246634G>A | CA37501032 | USH2A | c.2760C>T (p.Cys920=) | ClinVar dbSNP |
| 1 | g.216246634G>C | CA344864093 | USH2A | c.2760C>G (p.Cys920Trp) | |
| 1 | g.216246634G= | CA1145655549 | USH2A | c.2760C= (p.Cys920=) | |
| 1 | g.216246634G>T | CA344864094 | USH2A | c.2760C>A (p.Cys920Ter) | |
| 1 | g.216246635C>A | CA344864095 | USH2A | c.2759G>T (p.Cys920Phe) | gnomAD v4 |
| 1 | g.216246635C= | CA1220619064 | USH2A | c.2759G= (p.Cys920=) | |
| 1 | g.216246635C>G | CA344864096 | USH2A | c.2759G>C (p.Cys920Ser) | |
| 1 | g.216246635C>T | CA1396174 | USH2A | c.2759G>A (p.Cys920Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246636A>C | CA344864097 | USH2A | c.2758T>G (p.Cys920Gly) | gnomAD v4 |
| 1 | g.216246636A>G | CA344864098 | USH2A | c.2758T>C (p.Cys920Arg) | |
| 1 | g.216246636A>T | CA344864099 | USH2A | c.2758T>A (p.Cys920Ser) | |
| 1 | g.216246637C>A | CA344864100 | USH2A | c.2757G>T (p.Gln919His) | gnomAD v4 |
| 1 | g.216246637C>G | CA344864101 | USH2A | c.2757G>C (p.Gln919His) | |
| 1 | g.216246637C>T | CA423322252 | USH2A | c.2757G>A (p.Gln919=) | ClinVar |
| 1 | g.216246638T>A | CA344864102 | USH2A | c.2756A>T (p.Gln919Leu) | |
| 1 | g.216246638T>C | CA344864103 | USH2A | c.2756A>G (p.Gln919Arg) | |
| 1 | g.216246638T>G | CA344864104 | USH2A | c.2756A>C (p.Gln919Pro) | |
| 1 | g.216246639G>A | CA344864105 | USH2A | c.2755C>T (p.Gln919Ter) | |
| 1 | g.216246639G>C | CA344864106 | USH2A | c.2755C>G (p.Gln919Glu) | |
| 1 | g.216246639G>T | CA344864107 | USH2A | c.2755C>A (p.Gln919Lys) | |
| 1 | g.216246640G>A | CA423322263 | USH2A | c.2754C>T (p.Gly918=) | gnomAD v4 |
| 1 | g.216246640G>C | CA423322265 | USH2A | c.2754C>G (p.Gly918=) | |
| 1 | g.216246640G>T | CA423322266 | USH2A | c.2754C>A (p.Gly918=) | |
| 1 | g.216246641C>A | CA344864108 | USH2A | c.2753G>T (p.Gly918Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216246641C= | CA1220619065 | USH2A | c.2753G= (p.Gly918=) | |
| 1 | g.216246641C>G | CA344864109 | USH2A | c.2753G>C (p.Gly918Ala) | |
| 1 | g.216246641C>T | CA37501042 | USH2A | c.2753G>A (p.Gly918Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246642C>A | CA344864110 | USH2A | c.2752G>T (p.Gly918Cys) | |
| 1 | g.216246642C= | CA1148014540 | USH2A | c.2752G= (p.Gly918=) | |
| 1 | g.216246642C>G | CA344864111 | USH2A | c.2752G>C (p.Gly918Arg) | COSMIC |
| 1 | g.216246642C>T | CA1396175 | USH2A | c.2752G>A (p.Gly918Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246643A>C | CA344864112 | USH2A | c.2751T>G (p.Ser917Arg) | |
| 1 | g.216246643A>G | CA423322278 | USH2A | c.2751T>C (p.Ser917=) | |
| 1 | g.216246643A>T | CA344864113 | USH2A | c.2751T>A (p.Ser917Arg) |