UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 1 | g.215766735C>A | CA344827144 | USH2A | c.10993G>T (p.Gly3665Trp) | |
| 1 | g.215766735C= | CA1220412775 | USH2A | c.10993G= (p.Gly3665=) | |
| 1 | g.215766735C>G | CA344827148 | USH2A | c.10993G>C (p.Gly3665Arg) | |
| 1 | g.215766735C>T | CA1393858 | USH2A | c.10993G>A (p.Gly3665Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215766736A>C | CA423312220 | USH2A | c.10992T>G (p.Ala3664=) | gnomAD v4 |
| 1 | g.215766736A>G | CA423312221 | USH2A | c.10992T>C (p.Ala3664=) | |
| 1 | g.215766736A>T | CA423312222 | USH2A | c.10992T>A (p.Ala3664=) | |
| 1 | g.215766737G>A | CA344827167 | USH2A | c.10991C>T (p.Ala3664Val) | |
| 1 | g.215766737G>C | CA344827164 | USH2A | c.10991C>G (p.Ala3664Gly) | |
| 1 | g.215766737G>T | CA344827154 | USH2A | c.10991C>A (p.Ala3664Asp) | COSMIC COSMIC |
| 1 | g.215766738C>A | CA344827170 | USH2A | c.10990G>T (p.Ala3664Ser) | |
| 1 | g.215766738C>G | CA344827176 | USH2A | c.10990G>C (p.Ala3664Pro) | |
| 1 | g.215766738C>T | CA344827173 | USH2A | c.10990G>A (p.Ala3664Thr) | |
| 1 | g.215766739A>C | CA423312223 | USH2A | c.10989T>G (p.Ser3663=) | |
| 1 | g.215766739A>G | CA423312224 | USH2A | c.10989T>C (p.Ser3663=) | |
| 1 | g.215766739A>T | CA423312225 | USH2A | c.10989T>A (p.Ser3663=) | |
| 1 | g.215766740G>A | CA344827184 | USH2A | c.10988C>T (p.Ser3663Phe) | |
| 1 | g.215766740G>C | CA344827186 | USH2A | c.10988C>G (p.Ser3663Cys) | |
| 1 | g.215766740G>T | CA344827185 | USH2A | c.10988C>A (p.Ser3663Tyr) | |
| 1 | g.215766741A= | CA1220412778 | USH2A | c.10987T= (p.Ser3663=) | |
| 1 | g.215766741A>C | CA344827189 | USH2A | c.10987T>G (p.Ser3663Ala) | |
| 1 | g.215766741A>G | CA344827196 | USH2A | c.10987T>C (p.Ser3663Pro) | dbSNP |
| 1 | g.215766741A>T | CA344827191 | USH2A | c.10987T>A (p.Ser3663Thr) | |
| 1 | g.215766742T>A | CA423312231 | USH2A | c.10986A>T (p.Thr3662=) | |
| 1 | g.215766742T>C | CA423312230 | USH2A | c.10986A>G (p.Thr3662=) | |
| 1 | g.215766742T>G | CA423312229 | USH2A | c.10986A>C (p.Thr3662=) | |
| 1 | g.215766743G>A | CA344827214 | USH2A | c.10985C>T (p.Thr3662Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215766743G>C | CA344827217 | USH2A | c.10985C>G (p.Thr3662Arg) | |
| 1 | g.215766743G= | CA1220412783 | USH2A | c.10985C= (p.Thr3662=) | |
| 1 | g.215766743G>T | CA344827220 | USH2A | c.10985C>A (p.Thr3662Lys) | |
| 1 | g.215766744T>A | CA344827228 | USH2A | c.10984A>T (p.Thr3662Ser) | |
| 1 | g.215766744T>C | CA344827230 | USH2A | c.10984A>G (p.Thr3662Ala) | |
| 1 | g.215766744T>G | CA344827232 | USH2A | c.10984A>C (p.Thr3662Pro) | gnomAD v4 |
| 1 | g.215766744dup | CA2695199989 | USH2A | c.10984dup (p.Thr3662AsnfsTer21) | ClinVar |
| 1 | g.215766745A= | CA1220412785 | USH2A | c.10983T= (p.Cys3661=) | |
| 1 | g.215766745A>C | CA344827234 | USH2A | c.10983T>G (p.Cys3661Trp) | |
| 1 | g.215766745A>G | CA423312233 | USH2A | c.10983T>C (p.Cys3661=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215766745A>T | CA344827238 | USH2A | c.10983T>A (p.Cys3661Ter) | |
| 1 | g.215766746del | CA2499214456 | USH2A | c.10982del (p.Cys3661LeufsTer13) | ClinVar dbSNP |
| 1 | g.215766746C>A | CA344827239 | USH2A | c.10982G>T (p.Cys3661Phe) | |
| 1 | g.215766746C= | CA1220412789 | USH2A | c.10982G= (p.Cys3661=) | |
| 1 | g.215766746C>G | CA344827240 | USH2A | c.10982G>C (p.Cys3661Ser) | |
| 1 | g.215766746C>T | CA344827242 | USH2A | c.10982G>A (p.Cys3661Tyr) | dbSNP gnomAD v4 |
| 1 | g.215766747A>C | CA344827246 | USH2A | c.10981T>G (p.Cys3661Gly) | |
| 1 | g.215766747A>G | CA344827244 | USH2A | c.10981T>C (p.Cys3661Arg) | |
| 1 | g.215766747A>T | CA344827245 | USH2A | c.10981T>A (p.Cys3661Ser) | |
| 1 | g.215766748A= | CA1220412790 | USH2A | c.10980T= (p.Ala3660=) | |
| 1 | g.215766748A>C | CA1393859 | USH2A | c.10980T>G (p.Ala3660=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215766748A>G | CA423312236 | USH2A | c.10980T>C (p.Ala3660=) | gnomAD v3 gnomAD v4 |
| 1 | g.215766748A>T | CA423312235 | USH2A | c.10980T>A (p.Ala3660=) | |
| 1 | g.215766749del | CA2586968148 | USH2A | c.10979del (p.Ala3660ValfsTer14) | |
| 1 | g.215766749G>A | CA344827258 | USH2A | c.10979C>T (p.Ala3660Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215766749G>C | CA344827259 | USH2A | c.10979C>G (p.Ala3660Gly) | |
| 1 | g.215766749G= | CA1220412792 | USH2A | c.10979C= (p.Ala3660=) | |
| 1 | g.215766749G>T | CA344827260 | USH2A | c.10979C>A (p.Ala3660Asp) | |
| 1 | g.215766750C>A | CA344827263 | USH2A | c.10978G>T (p.Ala3660Ser) | dbSNP gnomAD v4 |
| 1 | g.215766750C= | CA1220412795 | USH2A | c.10978G= (p.Ala3660=) | |
| 1 | g.215766750C>G | CA344827265 | USH2A | c.10978G>C (p.Ala3660Pro) | |
| 1 | g.215766750C>T | CA344827267 | USH2A | c.10978G>A (p.Ala3660Thr) | |
| 1 | g.215766751T>A | CA423312237 | USH2A | c.10977A>T (p.Thr3659=) | |
| 1 | g.215766751T>C | CA423312239 | USH2A | c.10977A>G (p.Thr3659=) | dbSNP |
| 1 | g.215766751T>G | CA423312240 | USH2A | c.10977A>C (p.Thr3659=) | |
| 1 | g.215766751T= | CA1220412798 | USH2A | c.10977A= (p.Thr3659=) | |
| 1 | g.215766752G>A | CA344827269 | USH2A | c.10976C>T (p.Thr3659Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215766752G>C | CA344827272 | USH2A | c.10976C>G (p.Thr3659Arg) | dbSNP gnomAD v4 |
| 1 | g.215766752G= | CA1220412801 | USH2A | c.10976C= (p.Thr3659=) | |
| 1 | g.215766752G>T | CA344827276 | USH2A | c.10976C>A (p.Thr3659Lys) | |
| 1 | g.215766753T>A | CA344827282 | USH2A | c.10975A>T (p.Thr3659Ser) | |
| 1 | g.215766753T>C | CA344827280 | USH2A | c.10975A>G (p.Thr3659Ala) | |
| 1 | g.215766753T>G | CA344827278 | USH2A | c.10975A>C (p.Thr3659Pro) | |
| 1 | g.215766753dup | CA2586968149 | USH2A | c.10975dup (p.Thr3659AsnfsTer24) | |
| 1 | g.215766753_215766754dup | CA16621589 | USH2A | c.10974_10975dup (p.Thr3659IlefsTer16) | ClinVar dbSNP |
| 1 | g.215766753_215766754insTA | CA2586968150 | USH2A | c.10974_10975insTA (p.Thr3659Ter) | |
| 1 | g.215766754A>C | CA423312241 | USH2A | c.10974T>G (p.Leu3658=) | |
| 1 | g.215766754A>G | CA423312242 | USH2A | c.10974T>C (p.Leu3658=) | gnomAD v4 |
| 1 | g.215766754A>T | CA423312243 | USH2A | c.10974T>A (p.Leu3658=) | |
| 1 | g.215766755A>C | CA344827284 | USH2A | c.10973T>G (p.Leu3658Arg) | |
| 1 | g.215766755A>G | CA344827287 | USH2A | c.10973T>C (p.Leu3658Pro) | |
| 1 | g.215766755A>T | CA344827290 | USH2A | c.10973T>A (p.Leu3658His) | |
| 1 | g.215766756G>A | CA344827293 | USH2A | c.10972C>T (p.Leu3658Phe) | |
| 1 | g.215766756G>C | CA344827296 | USH2A | c.10972C>G (p.Leu3658Val) | |
| 1 | g.215766756G>T | CA344827298 | USH2A | c.10972C>A (p.Leu3658Ile) | |
| 1 | g.215766757del | CA2574132958 | USH2A | c.10971del (p.Thr3659GlnfsTer15) | gnomAD v4 |
| 1 | g.215766757A= | CA1220412812 | USH2A | c.10971T= (p.Thr3657=) | |
| 1 | g.215766757A>C | CA423312247 | USH2A | c.10971T>G (p.Thr3657=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215766757A>G | CA423312246 | USH2A | c.10971T>C (p.Thr3657=) | |
| 1 | g.215766757A>T | CA423312245 | USH2A | c.10971T>A (p.Thr3657=) | |
| 1 | g.215766758G>A | CA344827302 | USH2A | c.10970C>T (p.Thr3657Ile) | dbSNP gnomAD v4 |
| 1 | g.215766758G>C | CA344827304 | USH2A | c.10970C>G (p.Thr3657Ser) | |
| 1 | g.215766758G= | CA1220412816 | USH2A | c.10970C= (p.Thr3657=) | |
| 1 | g.215766758G>T | CA344827305 | USH2A | c.10970C>A (p.Thr3657Asn) | |
| 1 | g.215766759T>A | CA344827308 | USH2A | c.10969A>T (p.Thr3657Ser) | |
| 1 | g.215766759T>C | CA1393860 | USH2A | c.10969A>G (p.Thr3657Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215766759T>G | CA344827311 | USH2A | c.10969A>C (p.Thr3657Pro) | |
| 1 | g.215766759T= | CA1148713361 | USH2A | c.10969A= (p.Thr3657=) | |
| 1 | g.215766760G>A | CA37429099 | USH2A | c.10968C>T (p.Phe3656=) | dbSNP gnomAD v4 |
| 1 | g.215766760G>C | CA344827315 | USH2A | c.10968C>G (p.Phe3656Leu) | |
| 1 | g.215766760G= | CA1220412823 | USH2A | c.10968C= (p.Phe3656=) | |
| 1 | g.215766760G>T | CA344827317 | USH2A | c.10968C>A (p.Phe3656Leu) | |
| 1 | g.215766761A>C | CA344827322 | USH2A | c.10967T>G (p.Phe3656Cys) | |
| 1 | g.215766761A>G | CA344827324 | USH2A | c.10967T>C (p.Phe3656Ser) | |
| 1 | g.215766761A>T | CA344827326 | USH2A | c.10967T>A (p.Phe3656Tyr) | |
| 1 | g.215766762A= | CA1220412826 | USH2A | c.10966T= (p.Phe3656=) | |
| 1 | g.215766762A>C | CA344827329 | USH2A | c.10966T>G (p.Phe3656Val) | |
| 1 | g.215766762A>G | CA344827330 | USH2A | c.10966T>C (p.Phe3656Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215766762A>T | CA344827333 | USH2A | c.10966T>A (p.Phe3656Ile) | |
| 1 | g.215766763G>A | CA423312248 | USH2A | c.10965C>T (p.Ser3655=) | |
| 1 | g.215766763G>C | CA344827334 | USH2A | c.10965C>G (p.Ser3655Arg) | gnomAD v4 |
| 1 | g.215766763G>T | CA344827336 | USH2A | c.10965C>A (p.Ser3655Arg) | |
| 1 | g.215766764C>A | CA344827339 | USH2A | c.10964G>T (p.Ser3655Ile) | |
| 1 | g.215766764C>G | CA344827341 | USH2A | c.10964G>C (p.Ser3655Thr) | |
| 1 | g.215766764C>T | CA344827343 | USH2A | c.10964G>A (p.Ser3655Asn) | |
| 1 | g.215766765T>A | CA344827347 | USH2A | c.10963A>T (p.Ser3655Cys) | |
| 1 | g.215766765T>C | CA344827349 | USH2A | c.10963A>G (p.Ser3655Gly) | gnomAD v4 |
| 1 | g.215766765T>G | CA344827345 | USH2A | c.10963A>C (p.Ser3655Arg) | |
| 1 | g.215766766G>A | CA423312250 | USH2A | c.10962C>T (p.Tyr3654=) | ClinVar |
| 1 | g.215766766G>C | CA344827355 | USH2A | c.10962C>G (p.Tyr3654Ter) | |
| 1 | g.215766766G= | CA1220412831 | USH2A | c.10962C= (p.Tyr3654=) | |
| 1 | g.215766766G>T | CA344827353 | USH2A | c.10962C>A (p.Tyr3654Ter) | ClinVar dbSNP |
| 1 | g.215766767T>A | CA344827357 | USH2A | c.10961A>T (p.Tyr3654Phe) | |
| 1 | g.215766767T>C | CA344827359 | USH2A | c.10961A>G (p.Tyr3654Cys) | gnomAD v4 |
| 1 | g.215766767T>G | CA344827362 | USH2A | c.10961A>C (p.Tyr3654Ser) | |
| 1 | g.215766768A= | CA1220412835 | USH2A | c.10960T= (p.Tyr3654=) | |
| 1 | g.215766768A>C | CA344827364 | USH2A | c.10960T>G (p.Tyr3654Asp) | |
| 1 | g.215766768A>G | CA1393861 | USH2A | c.10960T>C (p.Tyr3654His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215766768A>T | CA344827369 | USH2A | c.10960T>A (p.Tyr3654Asn) | |
| 1 | g.215766769G>A | CA423312252 | USH2A | c.10959C>T (p.Asn3653=) | dbSNP gnomAD v4 |
| 1 | g.215766769G>C | CA344827372 | USH2A | c.10959C>G (p.Asn3653Lys) | |
| 1 | g.215766769G= | CA1220412837 | USH2A | c.10959C= (p.Asn3653=) | |
| 1 | g.215766769G>T | CA344827374 | USH2A | c.10959C>A (p.Asn3653Lys) | |
| 1 | g.215766770T>A | CA344827377 | USH2A | c.10958A>T (p.Asn3653Ile) | |
| 1 | g.215766770T>C | CA344827379 | USH2A | c.10958A>G (p.Asn3653Ser) | |
| 1 | g.215766770T>G | CA344827381 | USH2A | c.10958A>C (p.Asn3653Thr) | |
| 1 | g.215766771T>A | CA344827387 | USH2A | c.10957A>T (p.Asn3653Tyr) | |
| 1 | g.215766771T>C | CA344827383 | USH2A | c.10957A>G (p.Asn3653Asp) | gnomAD v4 |
| 1 | g.215766771T>G | CA344827385 | USH2A | c.10957A>C (p.Asn3653His) | |
| 1 | g.215766772G>A | CA423312253 | USH2A | c.10956C>T (p.Thr3652=) | gnomAD v4 |
| 1 | g.215766772G>C | CA423312254 | USH2A | c.10956C>G (p.Thr3652=) | |
| 1 | g.215766772G>T | CA423312255 | USH2A | c.10956C>A (p.Thr3652=) | gnomAD v4 COSMIC COSMIC |
| 1 | g.215766773G>A | CA344827391 | USH2A | c.10955C>T (p.Thr3652Ile) | gnomAD v4 |
| 1 | g.215766773G>C | CA344827393 | USH2A | c.10955C>G (p.Thr3652Ser) | gnomAD v4 |
| 1 | g.215766773G>T | CA344827395 | USH2A | c.10955C>A (p.Thr3652Asn) | gnomAD v4 |
| 1 | g.215766774T>A | CA344827399 | USH2A | c.10954A>T (p.Thr3652Ser) | gnomAD v4 |
| 1 | g.215766774T>C | CA344827400 | USH2A | c.10954A>G (p.Thr3652Ala) | |
| 1 | g.215766774T>G | CA344827402 | USH2A | c.10954A>C (p.Thr3652Pro) | |
| 1 | g.215766775G>A | CA1393862 | USH2A | c.10953C>T (p.Tyr3651=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215766775G>C | CA344827406 | USH2A | c.10953C>G (p.Tyr3651Ter) | ClinVar |
| 1 | g.215766775G= | CA1220412842 | USH2A | c.10953C= (p.Tyr3651=) | |
| 1 | g.215766775G>T | CA344827408 | USH2A | c.10953C>A (p.Tyr3651Ter) | gnomAD v4 |
| 1 | g.215766776T>A | CA344827411 | USH2A | c.10952A>T (p.Tyr3651Phe) | |
| 1 | g.215766776T>C | CA344827413 | USH2A | c.10952A>G (p.Tyr3651Cys) | |
| 1 | g.215766776T>G | CA344827415 | USH2A | c.10952A>C (p.Tyr3651Ser) | |
| 1 | g.215766777A>C | CA344827421 | USH2A | c.10951T>G (p.Tyr3651Asp) | |
| 1 | g.215766777A>G | CA344827423 | USH2A | c.10951T>C (p.Tyr3651His) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215766777A>T | CA344827419 | USH2A | c.10951T>A (p.Tyr3651Asn) | |
| 1 | g.215766778T>A | CA1393864 | USH2A | c.10950A>T (p.Pro3650=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215766778T>C | CA1393863 | USH2A | c.10950A>G (p.Pro3650=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215766778T>G | CA423312261 | USH2A | c.10950A>C (p.Pro3650=) | |
| 1 | g.215766778T= | CA1143879422 | USH2A | c.10950A= (p.Pro3650=) | |
| 1 | g.215766779G>A | CA37429132 | USH2A | c.10949C>T (p.Pro3650Leu) | dbSNP gnomAD v4 |
| 1 | g.215766779G>C | CA344827429 | USH2A | c.10949C>G (p.Pro3650Arg) | |
| 1 | g.215766779G= | CA1220412848 | USH2A | c.10949C= (p.Pro3650=) | |
| 1 | g.215766779G>T | CA344827431 | USH2A | c.10949C>A (p.Pro3650Gln) | |
| 1 | g.215766779_215766784del | CA2747720366 | USH2A | c.10944_10949del (p.Gln3649_Pro3650del) | |
| 1 | g.215766780G>A | CA344827433 | USH2A | c.10948C>T (p.Pro3650Ser) | |
| 1 | g.215766780G>C | CA344827435 | USH2A | c.10948C>G (p.Pro3650Ala) | |
| 1 | g.215766780G>T | CA344827437 | USH2A | c.10948C>A (p.Pro3650Thr) | gnomAD v4 |
| 1 | g.215766781C>A | CA344827440 | USH2A | c.10947G>T (p.Gln3649His) | |
| 1 | g.215766781C= | CA1220412852 | USH2A | c.10947G= (p.Gln3649=) | |
| 1 | g.215766781C>G | CA1393865 | USH2A | c.10947G>C (p.Gln3649His) | dbSNP ExAC gnomAD v2 |
| 1 | g.215766781C>T | CA423312266 | USH2A | c.10947G>A (p.Gln3649=) | |
| 1 | g.215766781_215766784delinsCTGG | CA1220412854 | USH2A | c.10944_10947delinsCCAG (p.Leu3648=) |