| 1 | g.215640610_215640632del | CA913072741 | USH2A | c.14894_14916del (p.Val4965GlyfsTer28)
| |
| 1 | g.215640610_215640632delinsGCGTCGCCCTCCGTCGGTTAACA | CA1220359699 | USH2A | c.14894_14916delinsTGTTAACCGACGGAGGGCGACGC (p.Val4965=)
| |
| 1 | g.215640614_215640635del | CA658822634 | USH2A | c.14894_14915del (p.Val4965AlafsTer?)
| ClinVar dbSNP |
| 1 | g.215640624_215640656delinsCGGTTAACACGTACTCCTTCAGTTGGCCGTTCA | CA1220359706 | USH2A | c.14870_14902delinsTGAACGGCCAACTGAAGGAGTACGTGTTAACCG (p.Leu4957=)
| |
| 1 | g.215640625_215640633delinsGGTTAACAC | CA1220359707 | USH2A | c.14893_14901delinsGTGTTAACC (p.Val4965=)
| |
| 1 | g.215640627_215640658del | CA916082109 | USH2A | c.14870_14901del (p.Leu4957ArgfsTer?)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215640626G>A | CA344827815 | USH2A | c.14900C>T (p.Thr4967Ile)
| |
| 1 | g.215640626G>C | CA344827821 | USH2A | c.14900C>G (p.Thr4967Ser)
| |
| 1 | g.215640626G>T | CA344827818 | USH2A | c.14900C>A (p.Thr4967Asn)
| gnomAD v4 |
| 1 | g.215640628_215640635del | CA529002047 | USH2A | c.14893_14900del (p.Val4965ArgfsTer?)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215640627T>A | CA344827824 | USH2A | c.14899A>T (p.Thr4967Ser)
| |
| 1 | g.215640627T>C | CA344827826 | USH2A | c.14899A>G (p.Thr4967Ala)
| |
| 1 | g.215640627T>G | CA344827829 | USH2A | c.14899A>C (p.Thr4967Pro)
| |
| 1 | g.215640627_215640633del | CA2574001638 | USH2A | c.14893_14899del (p.Val4965ProfsTer?)
| |
| 1 | g.215640628T>A | CA344827832 | USH2A | c.14898A>T (p.Leu4966Phe)
| |
| 1 | g.215640628T>C | CA423306865 | USH2A | c.14898A>G (p.Leu4966=)
| |
| 1 | g.215640628T>G | CA344827834 | USH2A | c.14898A>C (p.Leu4966Phe)
| |
| 1 | g.215640629A>C | CA344827838 | USH2A | c.14897T>G (p.Leu4966Ter)
| |
| 1 | g.215640629A>G | CA344827840 | USH2A | c.14897T>C (p.Leu4966Ser)
| |
| 1 | g.215640629A>T | CA344827842 | USH2A | c.14897T>A (p.Leu4966Ter)
| |
| 1 | g.215640630del | CA2697554875 | USH2A | c.14897del (p.Leu4966Ter)
| ClinVar |
| 1 | g.215640630A>C | CA344827845 | USH2A | c.14896T>G (p.Leu4966Val)
| |
| 1 | g.215640630A>G | CA423306866 | USH2A | c.14896T>C (p.Leu4966=)
| |
| 1 | g.215640630A>T | CA344827846 | USH2A | c.14896T>A (p.Leu4966Ile)
| |
| 1 | g.215640630_215640631delinsAC | CA1220359708 | USH2A | c.14895_14896delinsGT (p.Val4965=)
| |
| 1 | g.215640631del | CA1139656546 | USH2A | c.14895del (p.Leu4966Ter)
| ClinVar dbSNP |
| 1 | g.215640631C>A | CA423306869 | USH2A | c.14895G>T (p.Val4965=)
| |
| 1 | g.215640631C>G | CA423306867 | USH2A | c.14895G>C (p.Val4965=)
| |
| 1 | g.215640631C>T | CA423306868 | USH2A | c.14895G>A (p.Val4965=)
| |
| 1 | g.215640632A= | CA1220359709 | USH2A | c.14894T= (p.Val4965=)
| |
| 1 | g.215640632A>C | CA344827850 | USH2A | c.14894T>G (p.Val4965Gly)
| |
| 1 | g.215640632A>G | CA344827854 | USH2A | c.14894T>C (p.Val4965Ala)
| dbSNP |
| 1 | g.215640632A>T | CA344827857 | USH2A | c.14894T>A (p.Val4965Glu)
| |
| 1 | g.215640633C>A | CA344827865 | USH2A | c.14893G>T (p.Val4965Leu)
| dbSNP COSMIC |
| 1 | g.215640633C= | CA1142292888 | USH2A | c.14893G= (p.Val4965=)
| |
| 1 | g.215640633C>G | CA344827861 | USH2A | c.14893G>C (p.Val4965Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215640633C>T | CA1392897 | USH2A | c.14893G>A (p.Val4965Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215640634G>A | CA1392898 | USH2A | c.14892C>T (p.Tyr4964=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215640634G>C | CA344827869 | USH2A | c.14892C>G (p.Tyr4964Ter)
| |
| 1 | g.215640634G= | CA1142329772 | USH2A | c.14892C= (p.Tyr4964=)
| |
| 1 | g.215640634G>T | CA344827872 | USH2A | c.14892C>A (p.Tyr4964Ter)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215640635T>A | CA344827876 | USH2A | c.14891A>T (p.Tyr4964Phe)
| |
| 1 | g.215640635T>C | CA344827878 | USH2A | c.14891A>G (p.Tyr4964Cys)
| |
| 1 | g.215640635T>G | CA344827881 | USH2A | c.14891A>C (p.Tyr4964Ser)
| |
| 1 | g.215640636A>C | CA344827882 | USH2A | c.14890T>G (p.Tyr4964Asp)
| |
| 1 | g.215640636A>G | CA344827884 | USH2A | c.14890T>C (p.Tyr4964His)
| |
| 1 | g.215640636A>T | CA344827885 | USH2A | c.14890T>A (p.Tyr4964Asn)
| |
| 1 | g.215640637C>A | CA344827887 | USH2A | c.14889G>T (p.Glu4963Asp)
| |
| 1 | g.215640637C= | CA1220359710 | USH2A | c.14889G= (p.Glu4963=)
| |
| 1 | g.215640637C>G | CA344827889 | USH2A | c.14889G>C (p.Glu4963Asp)
| |
| 1 | g.215640637C>T | CA423306870 | USH2A | c.14889G>A (p.Glu4963=)
| ClinVar dbSNP |
| 1 | g.215640638T>A | CA344827898 | USH2A | c.14888A>T (p.Glu4963Val)
| |
| 1 | g.215640638T>C | CA344827895 | USH2A | c.14888A>G (p.Glu4963Gly)
| ClinVar dbSNP |
| 1 | g.215640638T>G | CA344827892 | USH2A | c.14888A>C (p.Glu4963Ala)
| |
| 1 | g.215640639C>A | CA344827902 | USH2A | c.14887G>T (p.Glu4963Ter)
| |
| 1 | g.215640639C>G | CA344827904 | USH2A | c.14887G>C (p.Glu4963Gln)
| |
| 1 | g.215640639C>T | CA344827906 | USH2A | c.14887G>A (p.Glu4963Lys)
| COSMIC COSMIC |
| 1 | g.215640640C>A | CA344827908 | USH2A | c.14886G>T (p.Lys4962Asn)
| |
| 1 | g.215640640C= | CA1220359711 | USH2A | c.14886G= (p.Lys4962=)
| |
| 1 | g.215640640C>G | CA344827911 | USH2A | c.14886G>C (p.Lys4962Asn)
| |
| 1 | g.215640640C>T | CA1392899 | USH2A | c.14886G>A (p.Lys4962=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215640641T>A | CA344827918 | USH2A | c.14885A>T (p.Lys4962Met)
| |
| 1 | g.215640641T>C | CA344827921 | USH2A | c.14885A>G (p.Lys4962Arg)
| |
| 1 | g.215640641T>G | CA344827924 | USH2A | c.14885A>C (p.Lys4962Thr)
| |
| 1 | g.215640642dup | CA2573131534 | USH2A | c.14885dup (p.Glu4963GlyfsTer?)
| ClinVar dbSNP |
| 1 | g.215640642T>A | CA344827927 | USH2A | c.14884A>T (p.Lys4962Ter)
| |
| 1 | g.215640642T>C | CA344827929 | USH2A | c.14884A>G (p.Lys4962Glu)
| |
| 1 | g.215640642T>G | CA344827931 | USH2A | c.14884A>C (p.Lys4962Gln)
| gnomAD v4 |
| 1 | g.215640643C>A | CA423306871 | USH2A | c.14883G>T (p.Leu4961=)
| COSMIC COSMIC |
| 1 | g.215640643C>G | CA423306872 | USH2A | c.14883G>C (p.Leu4961=)
| COSMIC COSMIC |
| 1 | g.215640643C>T | CA423306873 | USH2A | c.14883G>A (p.Leu4961=)
| |
| 1 | g.215640644A>C | CA344827937 | USH2A | c.14882T>G (p.Leu4961Arg)
| |
| 1 | g.215640644A>G | CA344827940 | USH2A | c.14882T>C (p.Leu4961Pro)
| |
| 1 | g.215640644A>T | CA344827932 | USH2A | c.14882T>A (p.Leu4961Gln)
| |
| 1 | g.215640645G>A | CA423306874 | USH2A | c.14881C>T (p.Leu4961=)
| COSMIC |
| 1 | g.215640645G>C | CA344827943 | USH2A | c.14881C>G (p.Leu4961Val)
| |
| 1 | g.215640645G= | CA1220359712 | USH2A | c.14881C= (p.Leu4961=)
| |
| 1 | g.215640645G>T | CA344827945 | USH2A | c.14881C>A (p.Leu4961Met)
| |
| 1 | g.215640646T>A | CA344827948 | USH2A | c.14880A>T (p.Gln4960His)
| |
| 1 | g.215640646T>C | CA1392900 | USH2A | c.14880A>G (p.Gln4960=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215640646T>G | CA344827952 | USH2A | c.14880A>C (p.Gln4960His)
| |
| 1 | g.215640646T= | CA1220359713 | USH2A | c.14880A= (p.Gln4960=)
| |
| 1 | g.215640646_215640647insCT | CA1139656547 | USH2A | c.14880_14881insGA (p.Leu4961AspfsTer2)
| ClinVar dbSNP |
| 1 | g.215640647T>A | CA344827961 | USH2A | c.14879A>T (p.Gln4960Leu)
| |
| 1 | g.215640647T>C | CA344827956 | USH2A | c.14879A>G (p.Gln4960Arg)
| |
| 1 | g.215640647T>G | CA344827958 | USH2A | c.14879A>C (p.Gln4960Pro)
| |
| 1 | g.215640648G>A | CA344827966 | USH2A | c.14878C>T (p.Gln4960Ter)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215640648G>C | CA344827967 | USH2A | c.14878C>G (p.Gln4960Glu)
| |
| 1 | g.215640648G= | CA1220359714 | USH2A | c.14878C= (p.Gln4960=)
| |
| 1 | g.215640648G>T | CA344827970 | USH2A | c.14878C>A (p.Gln4960Lys)
| |
| 1 | g.215640649G>A | CA423306875 | USH2A | c.14877C>T (p.Gly4959=)
| |
| 1 | g.215640649G>C | CA423306876 | USH2A | c.14877C>G (p.Gly4959=)
| ClinVar dbSNP |
| 1 | g.215640649G= | CA1220359715 | USH2A | c.14877C= (p.Gly4959=)
| |
| 1 | g.215640649G>T | CA423306877 | USH2A | c.14877C>A (p.Gly4959=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215640650C>A | CA344827975 | USH2A | c.14876G>T (p.Gly4959Val)
| |
| 1 | g.215640650C= | CA1220359716 | USH2A | c.14876G= (p.Gly4959=)
| |
| 1 | g.215640650C>G | CA344827976 | USH2A | c.14876G>C (p.Gly4959Ala)
| |
| 1 | g.215640650C>T | CA344827978 | USH2A | c.14876G>A (p.Gly4959Asp)
| ClinVar dbSNP |
| 1 | g.215640651C>A | CA344827984 | USH2A | c.14875G>T (p.Gly4959Cys)
| |
| 1 | g.215640651C= | CA1143475987 | USH2A | c.14875G= (p.Gly4959=)
| |
| 1 | g.215640651C>G | CA344827986 | USH2A | c.14875G>C (p.Gly4959Arg)
| |
| 1 | g.215640651C>T | CA37380284 | USH2A | c.14875G>A (p.Gly4959Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215640652G>A | CA1392901 | USH2A | c.14874C>T (p.Asn4958=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.215640652G>C | CA344827993 | USH2A | c.14874C>G (p.Asn4958Lys)
| |
| 1 | g.215640652G= | CA1149106375 | USH2A | c.14874C= (p.Asn4958=)
| |
| 1 | g.215640652G>T | CA344827991 | USH2A | c.14874C>A (p.Asn4958Lys)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215640653T>A | CA344827997 | USH2A | c.14873A>T (p.Asn4958Ile)
| |
| 1 | g.215640653T>C | CA344828012 | USH2A | c.14873A>G (p.Asn4958Ser)
| COSMIC COSMIC |
| 1 | g.215640653T>G | CA344828008 | USH2A | c.14873A>C (p.Asn4958Thr)
| |
| 1 | g.215640654T>A | CA344828015 | USH2A | c.14872A>T (p.Asn4958Tyr)
| |
| 1 | g.215640654T>C | CA344828020 | USH2A | c.14872A>G (p.Asn4958Asp)
| |
| 1 | g.215640654T>G | CA344828017 | USH2A | c.14872A>C (p.Asn4958His)
| |
| 1 | g.215640655C>A | CA423306878 | USH2A | c.14871G>T (p.Leu4957=)
| |
| 1 | g.215640655C= | CA1148716177 | USH2A | c.14871G= (p.Leu4957=)
| |
| 1 | g.215640655C>G | CA1392902 | USH2A | c.14871G>C (p.Leu4957=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215640655C>T | CA423306879 | USH2A | c.14871G>A (p.Leu4957=)
| |
| 1 | g.215640656A>C | CA344828029 | USH2A | c.14870T>G (p.Leu4957Arg)
| |
| 1 | g.215640656A>G | CA344828036 | USH2A | c.14870T>C (p.Leu4957Pro)
| |
| 1 | g.215640656A>T | CA344828040 | USH2A | c.14870T>A (p.Leu4957Gln)
| |
| 1 | g.215640657G>A | CA423306880 | USH2A | c.14869C>T (p.Leu4957=)
| |
| 1 | g.215640657G>C | CA344828042 | USH2A | c.14869C>G (p.Leu4957Val)
| |
| 1 | g.215640657G>T | CA344828043 | USH2A | c.14869C>A (p.Leu4957Met)
| |
| 1 | g.215640658G>A | CA423306881 | USH2A | c.14868C>T (p.Leu4956=)
| gnomAD v4 |
| 1 | g.215640658G>C | CA423306883 | USH2A | c.14868C>G (p.Leu4956=)
| |
| 1 | g.215640658G>T | CA423306882 | USH2A | c.14868C>A (p.Leu4956=)
| |
| 1 | g.215640659A>C | CA344828051 | USH2A | c.14867T>G (p.Leu4956Arg)
| |
| 1 | g.215640659A>G | CA344828055 | USH2A | c.14867T>C (p.Leu4956Pro)
| |
| 1 | g.215640659A>T | CA344828057 | USH2A | c.14867T>A (p.Leu4956His)
| |
| 1 | g.215640660G>A | CA344828069 | USH2A | c.14866C>T (p.Leu4956Phe)
| ClinVar dbSNP |
| 1 | g.215640660G>C | CA1392903 | USH2A | c.14866C>G (p.Leu4956Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215640660G= | CA1220359717 | USH2A | c.14866C= (p.Leu4956=)
| |
| 1 | g.215640660G>T | CA344828063 | USH2A | c.14866C>A (p.Leu4956Ile)
| |
| 1 | g.215640661G>A | CA423306884 | USH2A | c.14865C>T (p.Phe4955=)
| ClinVar dbSNP |
| 1 | g.215640661G>C | CA344828073 | USH2A | c.14865C>G (p.Phe4955Leu)
| ClinVar dbSNP |
| 1 | g.215640661G= | CA1220359718 | USH2A | c.14865C= (p.Phe4955=)
| |
| 1 | g.215640661G>T | CA344828074 | USH2A | c.14865C>A (p.Phe4955Leu)
| gnomAD v4 |
| 1 | g.215640662A>C | CA344828075 | USH2A | c.14864T>G (p.Phe4955Cys)
| gnomAD v4 |
| 1 | g.215640662A>G | CA344828076 | USH2A | c.14864T>C (p.Phe4955Ser)
| |
| 1 | g.215640662A>T | CA344828079 | USH2A | c.14864T>A (p.Phe4955Tyr)
| |
| 1 | g.215640663A>C | CA344828081 | USH2A | c.14863T>G (p.Phe4955Val)
| |
| 1 | g.215640663A>G | CA344828083 | USH2A | c.14863T>C (p.Phe4955Leu)
| |
| 1 | g.215640663A>T | CA344828086 | USH2A | c.14863T>A (p.Phe4955Ile)
| |
| 1 | g.215640664G>A | CA423306885 | USH2A | c.14862C>T (p.Thr4954=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215640664G>C | CA423306886 | USH2A | c.14862C>G (p.Thr4954=)
| |
| 1 | g.215640664G= | CA1220359719 | USH2A | c.14862C= (p.Thr4954=)
| |
| 1 | g.215640664G>T | CA423306887 | USH2A | c.14862C>A (p.Thr4954=)
| |
| 1 | g.215640665G>A | CA344828087 | USH2A | c.14861C>T (p.Thr4954Ile)
| |
| 1 | g.215640665G>C | CA344828088 | USH2A | c.14861C>G (p.Thr4954Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215640665G= | CA1220359720 | USH2A | c.14861C= (p.Thr4954=)
| |
| 1 | g.215640665G>T | CA344828089 | USH2A | c.14861C>A (p.Thr4954Asn)
| |
| 1 | g.215640666T>A | CA344828092 | USH2A | c.14860A>T (p.Thr4954Ser)
| |
| 1 | g.215640666T>C | CA1392904 | USH2A | c.14860A>G (p.Thr4954Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215640666T>G | CA344828090 | USH2A | c.14860A>C (p.Thr4954Pro)
| |
| 1 | g.215640666T= | CA1148565403 | USH2A | c.14860A= (p.Thr4954=)
| |
| 1 | g.215640667G>A | CA423306888 | USH2A | c.14859C>T (p.Asp4953=)
| ClinVar dbSNP |
| 1 | g.215640667G>C | CA344828097 | USH2A | c.14859C>G (p.Asp4953Glu)
| |
| 1 | g.215640667G= | CA1220359721 | USH2A | c.14859C= (p.Asp4953=)
| |
| 1 | g.215640667G>T | CA344828098 | USH2A | c.14859C>A (p.Asp4953Glu)
| |
| 1 | g.215640668T>A | CA344828103 | USH2A | c.14858A>T (p.Asp4953Val)
| |
| 1 | g.215640668T>C | CA344828108 | USH2A | c.14858A>G (p.Asp4953Gly)
| dbSNP |
| 1 | g.215640668T>G | CA344828111 | USH2A | c.14858A>C (p.Asp4953Ala)
| |
| 1 | g.215640668T= | CA1220359722 | USH2A | c.14858A= (p.Asp4953=)
| |
| 1 | g.215640669C>A | CA344828126 | USH2A | c.14857G>T (p.Asp4953Tyr)
| ClinVar dbSNP |
| 1 | g.215640669C= | CA1220359723 | USH2A | c.14857G= (p.Asp4953=)
| |
| 1 | g.215640669C>G | CA344828115 | USH2A | c.14857G>C (p.Asp4953His)
| |
| 1 | g.215640669C>T | CA344828124 | USH2A | c.14857G>A (p.Asp4953Asn)
| COSMIC COSMIC |
| 1 | g.215640669dup | CA2573131535 | USH2A | c.14857dup (p.Asp4953GlyfsTer?)
| ClinVar dbSNP |
| 1 | g.215640670A>C | CA344828129 | USH2A | c.14856T>G (p.Ser4952Arg)
| |
| 1 | g.215640670A>G | CA423306890 | USH2A | c.14856T>C (p.Ser4952=)
| gnomAD v4 |
| 1 | g.215640670A>T | CA344828132 | USH2A | c.14856T>A (p.Ser4952Arg)
| |
| 1 | g.215640671C>A | CA344828141 | USH2A | c.14855G>T (p.Ser4952Ile)
| |
| 1 | g.215640671C>G | CA344828144 | USH2A | c.14855G>C (p.Ser4952Thr)
| |
| 1 | g.215640671C>T | CA344828145 | USH2A | c.14855G>A (p.Ser4952Asn)
| |
| 1 | g.215640672T>A | CA344828148 | USH2A | c.14854A>T (p.Ser4952Cys)
| |
| 1 | g.215640672T>C | CA344828155 | USH2A | c.14854A>G (p.Ser4952Gly)
| |
| 1 | g.215640672T>G | CA344828151 | USH2A | c.14854A>C (p.Ser4952Arg)
| |
| 1 | g.215640673C>A | CA344828159 | USH2A | c.14853G>T (p.Trp4951Cys)
| COSMIC COSMIC |
| 1 | g.215640673C>G | CA344828170 | USH2A | c.14853G>C (p.Trp4951Cys)
| |
| 1 | g.215640673C>T | CA344828174 | USH2A | c.14853G>A (p.Trp4951Ter)
| |
| 1 | g.215640674C>A | CA344828178 | USH2A | c.14852G>T (p.Trp4951Leu)
| |
| 1 | g.215640674C>G | CA344828182 | USH2A | c.14852G>C (p.Trp4951Ser)
| |
| 1 | g.215640674C>T | CA344828188 | USH2A | c.14852G>A (p.Trp4951Ter)
| |
| 1 | g.215640675A>C | CA344828191 | USH2A | c.14851T>G (p.Trp4951Gly)
| |
| 1 | g.215640675A>G | CA344828193 | USH2A | c.14851T>C (p.Trp4951Arg)
| |
| 1 | g.215640675A>T | CA344828195 | USH2A | c.14851T>A (p.Trp4951Arg)
| |
| 1 | g.215640676G>A | CA423306891 | USH2A | c.14850C>T (p.Asn4950=)
| gnomAD v4 |
| 1 | g.215640676G>C | CA344828198 | USH2A | c.14850C>G (p.Asn4950Lys)
| |
| 1 | g.215640676G= | CA1220359724 | USH2A | c.14850C= (p.Asn4950=)
| |
| 1 | g.215640676G>T | CA344828200 | USH2A | c.14850C>A (p.Asn4950Lys)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215640677T>A | CA344828211 | USH2A | c.14849A>T (p.Asn4950Ile)
| |
| 1 | g.215640677T>C | CA344828207 | USH2A | c.14849A>G (p.Asn4950Ser)
| |
| 1 | g.215640677T>G | CA344828204 | USH2A | c.14849A>C (p.Asn4950Thr)
| |
| 1 | g.215640678del | CA2586968098 | USH2A | c.14849del (p.Asn4950ThrfsTer8)
| |
| 1 | g.215640678T>A | CA344828214 | USH2A | c.14848A>T (p.Asn4950Tyr)
| |
| 1 | g.215640678T>C | CA344828216 | USH2A | c.14848A>G (p.Asn4950Asp)
| |
| 1 | g.215640678T>G | CA344828219 | USH2A | c.14848A>C (p.Asn4950His)
| |
| 1 | g.215640679C>A | CA423306892 | USH2A | c.14847G>T (p.Val4949=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215640679C= | CA1220359725 | USH2A | c.14847G= (p.Val4949=)
| |
| 1 | g.215640679C>G | CA423306893 | USH2A | c.14847G>C (p.Val4949=)
| gnomAD v4 |
| 1 | g.215640679C>T | CA423306894 | USH2A | c.14847G>A (p.Val4949=)
| ClinVar dbSNP |
| 1 | g.215640686_215640687del | CA645519357 | USH2A | c.14846_14847del (p.Val4949GlufsTer4)
| COSMIC COSMIC |
| 1 | g.215640680A>C | CA344828223 | USH2A | c.14846T>G (p.Val4949Gly)
| |
| 1 | g.215640680A>G | CA344828225 | USH2A | c.14846T>C (p.Val4949Ala)
| |
| 1 | g.215640680A>T | CA344828247 | USH2A | c.14846T>A (p.Val4949Glu)
| |
| 1 | g.215640681C>A | CA344828260 | USH2A | c.14845G>T (p.Val4949Leu)
| |
| 1 | g.215640681C>G | CA344828253 | USH2A | c.14845G>C (p.Val4949Leu)
| |
| 1 | g.215640681C>T | CA344828255 | USH2A | c.14845G>A (p.Val4949Met)
| |
| 1 | g.215640682A>C | CA344828263 | USH2A | c.14844T>G (p.Cys4948Trp)
| |
| 1 | g.215640682A>G | CA423306895 | USH2A | c.14844T>C (p.Cys4948=)
| gnomAD v4 |
| 1 | g.215640682A>T | CA344828264 | USH2A | c.14844T>A (p.Cys4948Ter)
| |
| 1 | g.215640683C>A | CA344828265 | USH2A | c.14843G>T (p.Cys4948Phe)
| gnomAD v4 |
| 1 | g.215640683C= | CA1220359726 | USH2A | c.14843G= (p.Cys4948=)
| |
| 1 | g.215640683C>G | CA344828266 | USH2A | c.14843G>C (p.Cys4948Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215640683C>T | CA344828268 | USH2A | c.14843G>A (p.Cys4948Tyr)
| |
| 1 | g.215640684A= | CA1220359727 | USH2A | c.14842T= (p.Cys4948=)
| |
| 1 | g.215640684A>C | CA344828280 | USH2A | c.14842T>G (p.Cys4948Gly)
| |
| 1 | g.215640684A>G | CA37380315 | USH2A | c.14842T>C (p.Cys4948Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215640684A>T | CA344828278 | USH2A | c.14842T>A (p.Cys4948Ser)
| |
| 1 | g.215640685C>A | CA423306896 | USH2A | c.14841G>T (p.Val4947=)
| ClinVar |
| 1 | g.215640685C>G | CA423306897 | USH2A | c.14841G>C (p.Val4947=)
| |
| 1 | g.215640685C>T | CA423306898 | USH2A | c.14841G>A (p.Val4947=)
| ClinVar gnomAD v4 |
| 1 | g.215640686A= | CA1220359728 | USH2A | c.14840T= (p.Val4947=)
| |
| 1 | g.215640686A>C | CA344828283 | USH2A | c.14840T>G (p.Val4947Gly)
| |
| 1 | g.215640686A>G | CA344828287 | USH2A | c.14840T>C (p.Val4947Ala)
| dbSNP |
| 1 | g.215640686A>T | CA344828290 | USH2A | c.14840T>A (p.Val4947Glu)
| |
| 1 | g.215640687C>A | CA344828292 | USH2A | c.14839G>T (p.Val4947Leu)
| |
| 1 | g.215640687C>G | CA344828302 | USH2A | c.14839G>C (p.Val4947Leu)
| |
| 1 | g.215640687C>T | CA344828307 | USH2A | c.14839G>A (p.Val4947Met)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215640687_215640688del | CA2573131536 | USH2A | c.14838_14839del (p.Val4949GlufsTer4)
| ClinVar dbSNP |
| 1 | g.215640688C>A | CA37380330 | USH2A | c.14838G>T (p.Val4946=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215640688C= | CA1220359729 | USH2A | c.14838G= (p.Val4946=)
| |
| 1 | g.215640688C>G | CA423306899 | USH2A | c.14838G>C (p.Val4946=)
| |
| 1 | g.215640688C>T | CA423306900 | USH2A | c.14838G>A (p.Val4946=)
| ClinVar |
| 1 | g.215640689A>C | CA344828311 | USH2A | c.14837T>G (p.Val4946Gly)
| |
| 1 | g.215640689A>G | CA344828315 | USH2A | c.14837T>C (p.Val4946Ala)
| |
| 1 | g.215640689A>T | CA344828316 | USH2A | c.14837T>A (p.Val4946Glu)
| |
| 1 | g.215640692_215640695del | CA2573131537 | USH2A | c.14834_14837del (p.Ser4945TrpfsTer4)
| ClinVar dbSNP |
| 1 | g.215640690C>A | CA344828317 | USH2A | c.14836G>T (p.Val4946Leu)
| dbSNP |
| 1 | g.215640690C= | CA1220359730 | USH2A | c.14836G= (p.Val4946=)
| |
| 1 | g.215640690C>G | CA344828318 | USH2A | c.14836G>C (p.Val4946Leu)
| |
| 1 | g.215640690C>T | CA344828320 | USH2A | c.14836G>A (p.Val4946Met)
| |
| 1 | g.215640691del | CA2573131538 | USH2A | c.14835del (p.Val4946TrpfsTer4)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215640691A>C | CA423306901 | USH2A | c.14835T>G (p.Ser4945=)
| COSMIC COSMIC |
| 1 | g.215640691A>G | CA423306902 | USH2A | c.14835T>C (p.Ser4945=)
| |
| 1 | g.215640691A>T | CA423306903 | USH2A | c.14835T>A (p.Ser4945=)
| |
| 1 | g.215640692G>A | CA344828324 | USH2A | c.14834C>T (p.Ser4945Phe)
| COSMIC COSMIC |
| 1 | g.215640692G>C | CA344828331 | USH2A | c.14834C>G (p.Ser4945Cys)
| |
| 1 | g.215640692G>T | CA344828328 | USH2A | c.14834C>A (p.Ser4945Tyr)
| |
| 1 | g.215640693A>C | CA344828334 | USH2A | c.14833T>G (p.Ser4945Ala)
| |
| 1 | g.215640693A>G | CA344828345 | USH2A | c.14833T>C (p.Ser4945Pro)
| |
| 1 | g.215640693A>T | CA344828347 | USH2A | c.14833T>A (p.Ser4945Thr)
| |
| 1 | g.215640694C>A | CA1392905 | USH2A | c.14832G>T (p.Leu4944Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215640694C= | CA1146458062 | USH2A | c.14832G= (p.Leu4944=)
| |
| 1 | g.215640694C>G | CA344828357 | USH2A | c.14832G>C (p.Leu4944Phe)
| |
| 1 | g.215640694C>T | CA1392906 | USH2A | c.14832G>A (p.Leu4944=)
| ClinVar dbSNP ExAC gnomAD v4 |
| 1 | g.215640695A>C | CA344828361 | USH2A | c.14831T>G (p.Leu4944Trp)
| |
| 1 | g.215640695A>G | CA344828363 | USH2A | c.14831T>C (p.Leu4944Ser)
| |
| 1 | g.215640695A>T | CA344828367 | USH2A | c.14831T>A (p.Leu4944Ter)
| gnomAD v4 |
| 1 | g.215640697del | CA2573131539 | USH2A | c.14831del (p.Leu4944CysfsTer6)
| ClinVar dbSNP |
| 1 | g.215640696A>C | CA344828368 | USH2A | c.14830T>G (p.Leu4944Val)
| |
| 1 | g.215640696A>G | CA423306904 | USH2A | c.14830T>C (p.Leu4944=)
| |
| 1 | g.215640696A>T | CA344828369 | USH2A | c.14830T>A (p.Leu4944Met)
| |
| 1 | g.215640697A>C | CA344828370 | USH2A | c.14829T>G (p.Asn4943Lys)
| |
| 1 | g.215640697A>G | CA423306905 | USH2A | c.14829T>C (p.Asn4943=)
| ClinVar dbSNP |
| 1 | g.215640697A>T | CA344828371 | USH2A | c.14829T>A (p.Asn4943Lys)
| |
| 1 | g.215640698T>A | CA344828374 | USH2A | c.14828A>T (p.Asn4943Ile)
| |
| 1 | g.215640698T>C | CA344828381 | USH2A | c.14828A>G (p.Asn4943Ser)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215640698T>G | CA344828377 | USH2A | c.14828A>C (p.Asn4943Thr)
| |
| 1 | g.215640698T= | CA1220359731 | USH2A | c.14828A= (p.Asn4943=)
| |
| 1 | g.215640699T>A | CA344828384 | USH2A | c.14827A>T (p.Asn4943Tyr)
| |
| 1 | g.215640699T>C | CA344828388 | USH2A | c.14827A>G (p.Asn4943Asp)
| |
| 1 | g.215640699T>G | CA344828390 | USH2A | c.14827A>C (p.Asn4943His)
| |
| 1 | g.215640700G>A | CA423306906 | USH2A | c.14826C>T (p.Ser4942=)
| |
| 1 | g.215640700G>C | CA344828393 | USH2A | c.14826C>G (p.Ser4942Arg)
| |
| 1 | g.215640700G>T | CA344828395 | USH2A | c.14826C>A (p.Ser4942Arg)
| ClinVar gnomAD v4 |
| 1 | g.215640701C>A | CA344828401 | USH2A | c.14825G>T (p.Ser4942Ile)
| |
| 1 | g.215640701C>G | CA344828403 | USH2A | c.14825G>C (p.Ser4942Thr)
| |
| 1 | g.215640701C>T | CA344828409 | USH2A | c.14825G>A (p.Ser4942Asn)
| dbSNP gnomAD v4 |
| 1 | g.215640702T>A | CA344828412 | USH2A | c.14824A>T (p.Ser4942Cys)
| |
| 1 | g.215640702T>C | CA1392907 | USH2A | c.14824A>G (p.Ser4942Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215640702T>G | CA344828420 | USH2A | c.14824A>C (p.Ser4942Arg)
| |
| 1 | g.215640702T= | CA1220359732 | USH2A | c.14824A= (p.Ser4942=)
| |
| 1 | g.215640703G>A | CA423306907 | USH2A | c.14823C>T (p.Asp4941=)
| ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.215640703G>C | CA344828431 | USH2A | c.14823C>G (p.Asp4941Glu)
| |
| 1 | g.215640703G>T | CA344828423 | USH2A | c.14823C>A (p.Asp4941Glu)
| |
| 1 | g.215640704T>A | CA344828437 | USH2A | c.14822A>T (p.Asp4941Val)
| |
| 1 | g.215640704T>C | CA344828444 | USH2A | c.14822A>G (p.Asp4941Gly)
| |
| 1 | g.215640704T>G | CA344828440 | USH2A | c.14822A>C (p.Asp4941Ala)
| |
| 1 | g.215640705C>A | CA344828447 | USH2A | c.14821G>T (p.Asp4941Tyr)
| |
| 1 | g.215640705C= | CA1220359733 | USH2A | c.14821G= (p.Asp4941=)
| |
| 1 | g.215640705C>G | CA344828457 | USH2A | c.14821G>C (p.Asp4941His)
| COSMIC COSMIC |
| 1 | g.215640705C>T | CA344828453 | USH2A | c.14821G>A (p.Asp4941Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215640706C>A | CA423306908 | USH2A | c.14820G>T (p.Val4940=)
| gnomAD v3 gnomAD v4 |
| 1 | g.215640706C>G | CA423306909 | USH2A | c.14820G>C (p.Val4940=)
| |
| 1 | g.215640706C>T | CA423306910 | USH2A | c.14820G>A (p.Val4940=)
| |
| 1 | g.215640707A>C | CA344828459 | USH2A | c.14819T>G (p.Val4940Gly)
| |
| 1 | g.215640707A>G | CA344828461 | USH2A | c.14819T>C (p.Val4940Ala)
| |
| 1 | g.215640707A>T | CA344828467 | USH2A | c.14819T>A (p.Val4940Glu)
| |
| 1 | g.215640708C>A | CA344828469 | USH2A | c.14818G>T (p.Val4940Leu)
| |
| 1 | g.215640708C>G | CA344828470 | USH2A | c.14818G>C (p.Val4940Leu)
| |
| 1 | g.215640708C>T | CA344828473 | USH2A | c.14818G>A (p.Val4940Met)
| |
| 1 | g.215640709C>A | CA423306912 | USH2A | c.14817G>T (p.Ser4939=)
| ClinVar gnomAD v4 |
| 1 | g.215640709C= | CA1144229137 | USH2A | c.14817G= (p.Ser4939=)
| |
| 1 | g.215640709C>G | CA423306913 | USH2A | c.14817G>C (p.Ser4939=)
| |
| 1 | g.215640709C>T | CA143368 | USH2A | c.14817G>A (p.Ser4939=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215640710G>A | CA1392908 | USH2A | c.14816C>T (p.Ser4939Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215640710G>C | CA344828492 | USH2A | c.14816C>G (p.Ser4939Trp)
| |
| 1 | g.215640710G= | CA1220359734 | USH2A | c.14816C= (p.Ser4939=)
| |
| 1 | g.215640710G>T | CA344828496 | USH2A | c.14816C>A (p.Ser4939Ter)
| |
| 1 | g.215640711A>C | CA344828501 | USH2A | c.14815T>G (p.Ser4939Ala)
| |
| 1 | g.215640711A>G | CA344828500 | USH2A | c.14815T>C (p.Ser4939Pro)
| gnomAD v4 |
| 1 | g.215640711A>T | CA344828499 | USH2A | c.14815T>A (p.Ser4939Thr)
| |
| 1 | g.215640714del | CA2586968099 | USH2A | c.14815del (p.Ser4939ArgfsTer11)
| |
| 1 | g.215640712A>C | CA344828502 | USH2A | c.14814T>G (p.Phe4938Leu)
| |
| 1 | g.215640712A>G | CA423306914 | USH2A | c.14814T>C (p.Phe4938=)
| |
| 1 | g.215640712A>T | CA344828503 | USH2A | c.14814T>A (p.Phe4938Leu)
| |
| 1 | g.215640713A= | CA1220359735 | USH2A | c.14813T= (p.Phe4938=)
| |
| 1 | g.215640713A>C | CA344828504 | USH2A | c.14813T>G (p.Phe4938Cys)
| |
| 1 | g.215640713A>G | CA1392909 | USH2A | c.14813T>C (p.Phe4938Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215640713A>T | CA344828507 | USH2A | c.14813T>A (p.Phe4938Tyr)
| |
| 1 | g.215640714A>C | CA344828515 | USH2A | c.14812T>G (p.Phe4938Val)
| |
| 1 | g.215640714A>G | CA344828518 | USH2A | c.14812T>C (p.Phe4938Leu)
| |
| 1 | g.215640714A>T | CA344828525 | USH2A | c.14812T>A (p.Phe4938Ile)
| |
| 1 | g.215640715del | CA2695199969 | USH2A | c.14811del (p.Ser4939ArgfsTer11)
| ClinVar |
| 1 | g.215640715T>A | CA423306915 | USH2A | c.14811A>T (p.Pro4937=)
| |
| 1 | g.215640715T>C | CA423306916 | USH2A | c.14811A>G (p.Pro4937=)
| gnomAD v4 |
| 1 | g.215640715T>G | CA423306917 | USH2A | c.14811A>C (p.Pro4937=)
| |
| 1 | g.215640716G>A | CA344828529 | USH2A | c.14810C>T (p.Pro4937Leu)
| dbSNP gnomAD v2 COSMIC COSMIC |
| 1 | g.215640716G>C | CA344828540 | USH2A | c.14810C>G (p.Pro4937Arg)
| |
| 1 | g.215640716G= | CA1220359736 | USH2A | c.14810C= (p.Pro4937=)
| |
| 1 | g.215640716G>T | CA344828541 | USH2A | c.14810C>A (p.Pro4937Gln)
| |
| 1 | g.215640717G>A | CA344828543 | USH2A | c.14809C>T (p.Pro4937Ser)
| dbSNP gnomAD v4 |
| 1 | g.215640717G>C | CA344828545 | USH2A | c.14809C>G (p.Pro4937Ala)
| gnomAD v4 |
| 1 | g.215640717G= | CA1220359737 | USH2A | c.14809C= (p.Pro4937=)
| |
| 1 | g.215640717G>T | CA344828542 | USH2A | c.14809C>A (p.Pro4937Thr)
| |
| 1 | g.215640718G>A | CA423306918 | USH2A | c.14808C>T (p.Ala4936=)
| |
| 1 | g.215640718G>C | CA423306919 | USH2A | c.14808C>G (p.Ala4936=)
| |
| 1 | g.215640718G>T | CA423306920 | USH2A | c.14808C>A (p.Ala4936=)
| |
| 1 | g.215640720_215640724del | CA2695199970 | USH2A | c.14804_14808del (p.Arg4935ProfsTer17)
| ClinVar |
| 1 | g.215640719G>A | CA344828549 | USH2A | c.14807C>T (p.Ala4936Val)
| |
| 1 | g.215640719G>C | CA344828552 | USH2A | c.14807C>G (p.Ala4936Gly)
| |
| 1 | g.215640719G= | CA1220359739 | USH2A | c.14807C= (p.Ala4936=)
| |
| 1 | g.215640719G>T | CA344828556 | USH2A | c.14807C>A (p.Ala4936Asp)
| ClinVar dbSNP |
| 1 | g.215640719_215640726delinsGCTCGGTA | CA1220359738 | USH2A | c.14800_14807delinsTACCGAGC (p.Tyr4934=)
| |
| 1 | g.215640720C>A | CA344828558 | USH2A | c.14806G>T (p.Ala4936Ser)
| |
| 1 | g.215640720C>G | CA344828564 | USH2A | c.14806G>C (p.Ala4936Pro)
| |
| 1 | g.215640720C>T | CA344828567 | USH2A | c.14806G>A (p.Ala4936Thr)
| |
| 1 | g.215640720_215640728delinsCTCGGTACT | CA1149063982 | USH2A | c.14798_14806delinsAGTACCGAG (p.Gln4933=)
| |
| 1 | g.215640722_215640728del | CA1392910 | USH2A | c.14800_14806del (p.Tyr4934ProfsTer14)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215640721T>A | CA423306921 | USH2A | c.14805A>T (p.Arg4935=)
| |
| 1 | g.215640721T>C | CA423306922 | USH2A | c.14805A>G (p.Arg4935=)
| |
| 1 | g.215640721T>G | CA423306923 | USH2A | c.14805A>C (p.Arg4935=)
| |
| 1 | g.215640722C>A | CA344828574 | USH2A | c.14804G>T (p.Arg4935Leu)
| |
| 1 | g.215640722C= | CA1141785787 | USH2A | c.14804G= (p.Arg4935=)
| |
| 1 | g.215640722C>G | CA344828580 | USH2A | c.14804G>C (p.Arg4935Pro)
| |
| 1 | g.215640722C>T | CA1392911 | USH2A | c.14804G>A (p.Arg4935Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215640722_215640723insTGAGGTGGTACTGTCCACCGAAAATGG | CA1220359740 | USH2A | c.14803_14804insCCATTTTCGGTGGACAGTACCACCTCA (p.Tyr4934_Arg4935insProIlePheGlyGlyGlnTyrHisLeu)
| dbSNP |
| 1 | g.215640723G>A | CA273457 | USH2A | c.14803C>T (p.Arg4935Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215640723G>C | CA344828583 | USH2A | c.14803C>G (p.Arg4935Gly)
| gnomAD v4 |
| 1 | g.215640723G= | CA1142134043 | USH2A | c.14803C= (p.Arg4935=)
| |
| 1 | g.215640723G>T | CA423306924 | USH2A | c.14803C>A (p.Arg4935=)
| ClinVar dbSNP |
| 1 | g.215640724G>A | CA423306925 | USH2A | c.14802C>T (p.Tyr4934=)
| |
| 1 | g.215640724G>C | CA344828586 | USH2A | c.14802C>G (p.Tyr4934Ter)
| ClinVar |
| 1 | g.215640724G>T | CA344828588 | USH2A | c.14802C>A (p.Tyr4934Ter)
| ClinVar |
| 1 | g.215640725T>A | CA344828594 | USH2A | c.14801A>T (p.Tyr4934Phe)
| |
| 1 | g.215640725T>C | CA344828598 | USH2A | c.14801A>G (p.Tyr4934Cys)
| COSMIC COSMIC |
| 1 | g.215640725T>G | CA344828595 | USH2A | c.14801A>C (p.Tyr4934Ser)
| |
| 1 | g.215640726A>C | CA344828606 | USH2A | c.14800T>G (p.Tyr4934Asp)
| |
| 1 | g.215640726A>G | CA344828610 | USH2A | c.14800T>C (p.Tyr4934His)
| |
| 1 | g.215640726A>T | CA344828614 | USH2A | c.14800T>A (p.Tyr4934Asn)
| |
