1 | g.216246650G>A | CA344864124 | USH2A | c.2744C>T (p.Pro915Leu)
| dbSNP gnomAD v4 |
1 | g.216246650G>C | CA344864125 | USH2A | c.2744C>G (p.Pro915Arg)
| |
1 | g.216246650G= | CA1220619069 | USH2A | c.2744C= (p.Pro915=)
| |
1 | g.216246650G>T | CA344864126 | USH2A | c.2744C>A (p.Pro915Gln)
| |
1 | g.216246651G>A | CA344864129 | USH2A | c.2743C>T (p.Pro915Ser)
| |
1 | g.216246651G>C | CA344864127 | USH2A | c.2743C>G (p.Pro915Ala)
| |
1 | g.216246651G= | CA1220619070 | USH2A | c.2743C= (p.Pro915=)
| |
1 | g.216246651G>T | CA344864128 | USH2A | c.2743C>A (p.Pro915Thr)
| dbSNP gnomAD v4 |
1 | g.216246652G>A | CA423322322 | USH2A | c.2742C>T (p.Asp914=)
| |
1 | g.216246652G>C | CA344864130 | USH2A | c.2742C>G (p.Asp914Glu)
| |
1 | g.216246652G>T | CA344864131 | USH2A | c.2742C>A (p.Asp914Glu)
| |
1 | g.216246653T>A | CA344864132 | USH2A | c.2741A>T (p.Asp914Val)
| |
1 | g.216246653T>C | CA344864133 | USH2A | c.2741A>G (p.Asp914Gly)
| |
1 | g.216246653T>G | CA344864134 | USH2A | c.2741A>C (p.Asp914Ala)
| |
1 | g.216246654C>A | CA344864137 | USH2A | c.2740G>T (p.Asp914Tyr)
| |
1 | g.216246654C>G | CA344864135 | USH2A | c.2740G>C (p.Asp914His)
| |
1 | g.216246654C>T | CA344864136 | USH2A | c.2740G>A (p.Asp914Asn)
| |
1 | g.216246655A>C | CA344864138 | USH2A | c.2739T>G (p.Cys913Trp)
| |
1 | g.216246655A>G | CA423322334 | USH2A | c.2739T>C (p.Cys913=)
| |
1 | g.216246655A>T | CA344864139 | USH2A | c.2739T>A (p.Cys913Ter)
| |
1 | g.216246656del | CA2573132755 | USH2A | c.2738del (p.Cys913LeufsTer?)
| ClinVar dbSNP |
1 | g.216246656C>A | CA344864140 | USH2A | c.2738G>T (p.Cys913Phe)
| gnomAD v4 |
1 | g.216246656C>G | CA344864141 | USH2A | c.2738G>C (p.Cys913Ser)
| gnomAD v4 |
1 | g.216246656C>T | CA344864142 | USH2A | c.2738G>A (p.Cys913Tyr)
| |
1 | g.216246657A= | CA1220619071 | USH2A | c.2737T= (p.Cys913=)
| |
1 | g.216246657A>C | CA344864143 | USH2A | c.2737T>G (p.Cys913Gly)
| |
1 | g.216246657A>G | CA344864144 | USH2A | c.2737T>C (p.Cys913Arg)
| |
1 | g.216246657A>T | CA344864145 | USH2A | c.2737T>A (p.Cys913Ser)
| dbSNP |
1 | g.216246658A= | CA1220619072 | USH2A | c.2736T= (p.Ile912=)
| |
1 | g.216246658A>C | CA344864146 | USH2A | c.2736T>G (p.Ile912Met)
| |
1 | g.216246658A>G | CA423322344 | USH2A | c.2736T>C (p.Ile912=)
| dbSNP |
1 | g.216246658A>T | CA423322346 | USH2A | c.2736T>A (p.Ile912=)
| |
1 | g.216246659A= | CA1220619073 | USH2A | c.2735T= (p.Ile912=)
| |
1 | g.216246659A>C | CA344864147 | USH2A | c.2735T>G (p.Ile912Ser)
| |
1 | g.216246659A>G | CA344864148 | USH2A | c.2735T>C (p.Ile912Thr)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.216246659A>T | CA344864149 | USH2A | c.2735T>A (p.Ile912Asn)
| |
1 | g.216246660T>A | CA344864150 | USH2A | c.2734A>T (p.Ile912Phe)
| |
1 | g.216246660T>C | CA344864152 | USH2A | c.2734A>G (p.Ile912Val)
| gnomAD v4 |
1 | g.216246660T>G | CA344864151 | USH2A | c.2734A>C (p.Ile912Leu)
| |
1 | g.216246661G>A | CA37501048 | USH2A | c.2733C>T (p.Thr911=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216246661G>C | CA423322357 | USH2A | c.2733C>G (p.Thr911=)
| |
1 | g.216246661G= | CA1144097668 | USH2A | c.2733C= (p.Thr911=)
| |
1 | g.216246661G>T | CA423322359 | USH2A | c.2733C>A (p.Thr911=)
| COSMIC |
1 | g.216246662del | CA2697554931 | USH2A | c.2733del (p.Ile912PhefsTer?)
| ClinVar |
1 | g.216246662G>A | CA344864153 | USH2A | c.2732C>T (p.Thr911Ile)
| dbSNP gnomAD v2 |
1 | g.216246662G>C | CA344864154 | USH2A | c.2732C>G (p.Thr911Ser)
| |
1 | g.216246662G= | CA1144229203 | USH2A | c.2732C= (p.Thr911=)
| |
1 | g.216246662G>T | CA143446 | USH2A | c.2732C>A (p.Thr911Asn)
| ClinVar dbSNP COSMIC |
1 | g.216246663T>A | CA344864155 | USH2A | c.2731A>T (p.Thr911Ser)
| |
1 | g.216246663T>C | CA344864156 | USH2A | c.2731A>G (p.Thr911Ala)
| |
1 | g.216246663T>G | CA344864157 | USH2A | c.2731A>C (p.Thr911Pro)
| gnomAD v4 |
1 | g.216246664C>A | CA423322370 | USH2A | c.2730G>T (p.Gly910=)
| |
1 | g.216246664C= | CA1220619074 | USH2A | c.2730G= (p.Gly910=)
| |
1 | g.216246664C>G | CA423322372 | USH2A | c.2730G>C (p.Gly910=)
| dbSNP |
1 | g.216246664C>T | CA37501060 | USH2A | c.2730G>A (p.Gly910=)
| dbSNP |
1 | g.216246666del | CA2573132756 | USH2A | c.2730del (p.Thr911ProfsTer?)
| ClinVar dbSNP |
1 | g.216246665_216246666del | CA2580062111 | USH2A | c.2729_2730del (p.Gly910AspfsTer4)
| ClinVar |
1 | g.216246665C>A | CA344864158 | USH2A | c.2729G>T (p.Gly910Val)
| |
1 | g.216246665C>G | CA344864159 | USH2A | c.2729G>C (p.Gly910Ala)
| |
1 | g.216246665C>T | CA344864160 | USH2A | c.2729G>A (p.Gly910Glu)
| dbSNP |
1 | g.216246666C>A | CA344864161 | USH2A | c.2728G>T (p.Gly910Trp)
| |
1 | g.216246666C>G | CA344864162 | USH2A | c.2728G>C (p.Gly910Arg)
| |
1 | g.216246666C>T | CA344864163 | USH2A | c.2728G>A (p.Gly910Arg)
| |
1 | g.216246667A>C | CA423322385 | USH2A | c.2727T>G (p.Pro909=)
| |
1 | g.216246667A>G | CA423322387 | USH2A | c.2727T>C (p.Pro909=)
| ClinVar |
1 | g.216246667A>T | CA423322389 | USH2A | c.2727T>A (p.Pro909=)
| |
1 | g.216246668G>A | CA344864164 | USH2A | c.2726C>T (p.Pro909Leu)
| |
1 | g.216246668G>C | CA344864165 | USH2A | c.2726C>G (p.Pro909Arg)
| |
1 | g.216246668G= | CA1220619075 | USH2A | c.2726C= (p.Pro909=)
| |
1 | g.216246668G>T | CA1396179 | USH2A | c.2726C>A (p.Pro909His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.216246669G>A | CA344864166 | USH2A | c.2725C>T (p.Pro909Ser)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.216246669G>C | CA344864167 | USH2A | c.2725C>G (p.Pro909Ala)
| |
1 | g.216246669G= | CA1220619076 | USH2A | c.2725C= (p.Pro909=)
| |
1 | g.216246669G>T | CA344864168 | USH2A | c.2725C>A (p.Pro909Thr)
| |
1 | g.216246670T>A | CA344864169 | USH2A | c.2724A>T (p.Leu908Phe)
| |
1 | g.216246670T>C | CA423322402 | USH2A | c.2724A>G (p.Leu908=)
| ClinVar dbSNP |
1 | g.216246670T>G | CA344864170 | USH2A | c.2724A>C (p.Leu908Phe)
| |
1 | g.216246671A>C | CA344864171 | USH2A | c.2723T>G (p.Leu908Ter)
| |
1 | g.216246671A>G | CA344864172 | USH2A | c.2723T>C (p.Leu908Ser)
| ClinVar gnomAD v4 |
1 | g.216246671A>T | CA344864173 | USH2A | c.2723T>A (p.Leu908Ter)
| |
1 | g.216246672A>C | CA344864174 | USH2A | c.2722T>G (p.Leu908Val)
| |
1 | g.216246672A>G | CA423322410 | USH2A | c.2722T>C (p.Leu908=)
| COSMIC |
1 | g.216246672A>T | CA344864175 | USH2A | c.2722T>A (p.Leu908Ile)
| |
1 | g.216246673T>A | CA423322412 | USH2A | c.2721A>T (p.Thr907=)
| |
1 | g.216246673T>C | CA423322414 | USH2A | c.2721A>G (p.Thr907=)
| |
1 | g.216246673T>G | CA423322417 | USH2A | c.2721A>C (p.Thr907=)
| gnomAD v4 |
1 | g.216246673T= | CA1220619077 | USH2A | c.2721A= (p.Thr907=)
| |
1 | g.216246674G>A | CA37501070 | USH2A | c.2720C>T (p.Thr907Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216246674G>C | CA344864177 | USH2A | c.2720C>G (p.Thr907Arg)
| |
1 | g.216246674G= | CA1220619078 | USH2A | c.2720C= (p.Thr907=)
| |
1 | g.216246674G>T | CA344864176 | USH2A | c.2720C>A (p.Thr907Lys)
| |
1 | g.216246674dup | CA2650512847 | USH2A | c.2720dup (p.Leu908IlefsTer7)
| gnomAD v4 |
1 | g.216246674_216246684dup | CA1396180 | USH2A | c.2710_2720dup (p.Leu908ProfsTer?)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.216246675T>A | CA344864178 | USH2A | c.2719A>T (p.Thr907Ser)
| |
1 | g.216246675T>C | CA344864179 | USH2A | c.2719A>G (p.Thr907Ala)
| |
1 | g.216246675T>G | CA344864180 | USH2A | c.2719A>C (p.Thr907Pro)
| |
1 | g.216246676C>A | CA423322436 | USH2A | c.2718G>T (p.Gly906=)
| gnomAD v4 |
1 | g.216246676C= | CA1220619079 | USH2A | c.2718G= (p.Gly906=)
| |
1 | g.216246676C>G | CA423322432 | USH2A | c.2718G>C (p.Gly906=)
| |
1 | g.216246676C>T | CA1396181 | USH2A | c.2718G>A (p.Gly906=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.216246677C>A | CA344864181 | USH2A | c.2717G>T (p.Gly906Val)
| |
1 | g.216246677C= | CA1220619080 | USH2A | c.2717G= (p.Gly906=)
| |
1 | g.216246677C>G | CA344864182 | USH2A | c.2717G>C (p.Gly906Ala)
| |
1 | g.216246677C>T | CA1396182 | USH2A | c.2717G>A (p.Gly906Glu)
| dbSNP ExAC gnomAD v2 |
1 | g.216246678C>A | CA344864183 | USH2A | c.2716G>T (p.Gly906Trp)
| |
1 | g.216246678C>G | CA344864184 | USH2A | c.2716G>C (p.Gly906Arg)
| |
1 | g.216246678C>T | CA344864185 | USH2A | c.2716G>A (p.Gly906Arg)
| |
1 | g.216246679C>A | CA344864186 | USH2A | c.2715G>T (p.Leu905Phe)
| |
1 | g.216246679C>G | CA344864187 | USH2A | c.2715G>C (p.Leu905Phe)
| |
1 | g.216246679C>T | CA423322447 | USH2A | c.2715G>A (p.Leu905=)
| |
1 | g.216246680A>C | CA344864189 | USH2A | c.2714T>G (p.Leu905Trp)
| |
1 | g.216246680A>G | CA344864190 | USH2A | c.2714T>C (p.Leu905Ser)
| gnomAD v4 |
1 | g.216246680A>T | CA344864188 | USH2A | c.2714T>A (p.Leu905Ter)
| |
1 | g.216246681del | CA2573132757 | USH2A | c.2714del (p.Leu905TrpfsTer?)
| ClinVar dbSNP |
1 | g.216246681A= | CA1220619081 | USH2A | c.2713T= (p.Leu905=)
| |
1 | g.216246681A>C | CA344864191 | USH2A | c.2713T>G (p.Leu905Val)
| gnomAD v4 |
1 | g.216246681A>G | CA1396183 | USH2A | c.2713T>C (p.Leu905=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216246681A>T | CA344864192 | USH2A | c.2713T>A (p.Leu905Met)
| |
1 | g.216246682G>A | CA423322460 | USH2A | c.2712C>T (p.Ser904=)
| |
1 | g.216246682G>C | CA423322462 | USH2A | c.2712C>G (p.Ser904=)
| |
1 | g.216246682G>T | CA423322464 | USH2A | c.2712C>A (p.Ser904=)
| gnomAD v4 |
1 | g.216246683G>A | CA344864193 | USH2A | c.2711C>T (p.Ser904Phe)
| |
1 | g.216246683G>C | CA344864194 | USH2A | c.2711C>G (p.Ser904Cys)
| gnomAD v4 |
1 | g.216246683G>T | CA344864195 | USH2A | c.2711C>A (p.Ser904Tyr)
| COSMIC COSMIC COSMIC |
1 | g.216246684A>C | CA344864198 | USH2A | c.2710T>G (p.Ser904Ala)
| |
1 | g.216246684A>G | CA344864196 | USH2A | c.2710T>C (p.Ser904Pro)
| |
1 | g.216246684A>T | CA344864197 | USH2A | c.2710T>A (p.Ser904Thr)
| |
1 | g.216246685A>C | CA344864199 | USH2A | c.2709T>G (p.Asp903Glu)
| |
1 | g.216246685A>G | CA423322475 | USH2A | c.2709T>C (p.Asp903=)
| |
1 | g.216246685A>T | CA344864200 | USH2A | c.2709T>A (p.Asp903Glu)
| |
1 | g.216246686T>A | CA344864201 | USH2A | c.2708A>T (p.Asp903Val)
| |
1 | g.216246686T>C | CA344864202 | USH2A | c.2708A>G (p.Asp903Gly)
| |
1 | g.216246686T>G | CA344864203 | USH2A | c.2708A>C (p.Asp903Ala)
| |
1 | g.216246687C>A | CA1396184 | USH2A | c.2707G>T (p.Asp903Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216246687C= | CA1142445210 | USH2A | c.2707G= (p.Asp903=)
| |
1 | g.216246687C>G | CA344864205 | USH2A | c.2707G>C (p.Asp903His)
| gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.216246687C>T | CA344864204 | USH2A | c.2707G>A (p.Asp903Asn)
| COSMIC |
1 | g.216246688A>C | CA344864206 | USH2A | c.2706T>G (p.Cys902Trp)
| |
1 | g.216246688A>G | CA423322489 | USH2A | c.2706T>C (p.Cys902=)
| |
1 | g.216246688A>T | CA344864207 | USH2A | c.2706T>A (p.Cys902Ter)
| |
1 | g.216246689C>A | CA344864208 | USH2A | c.2705G>T (p.Cys902Phe)
| |
1 | g.216246689C= | CA1220619082 | USH2A | c.2705G= (p.Cys902=)
| |
1 | g.216246689C>G | CA344864209 | USH2A | c.2705G>C (p.Cys902Ser)
| |
1 | g.216246689C>T | CA1396185 | USH2A | c.2705G>A (p.Cys902Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.216246690A>C | CA344864210 | USH2A | c.2704T>G (p.Cys902Gly)
| |
1 | g.216246690A>G | CA344864211 | USH2A | c.2704T>C (p.Cys902Arg)
| |
1 | g.216246690A>T | CA344864212 | USH2A | c.2704T>A (p.Cys902Ser)
| |
1 | g.216246691C>A | CA344864213 | USH2A | c.2703G>T (p.Glu901Asp)
| |
1 | g.216246691C>G | CA344864214 | USH2A | c.2703G>C (p.Glu901Asp)
| |
1 | g.216246691C>T | CA423322504 | USH2A | c.2703G>A (p.Glu901=)
| ClinVar gnomAD v4 |
1 | g.216246692T>A | CA344864215 | USH2A | c.2702A>T (p.Glu901Val)
| |
1 | g.216246692T>C | CA344864216 | USH2A | c.2702A>G (p.Glu901Gly)
| |
1 | g.216246692T>G | CA344864217 | USH2A | c.2702A>C (p.Glu901Ala)
| |
1 | g.216246693C>A | CA344864218 | USH2A | c.2701G>T (p.Glu901Ter)
| |
1 | g.216246693C= | CA1220619083 | USH2A | c.2701G= (p.Glu901=)
| |
1 | g.216246693C>G | CA344864219 | USH2A | c.2701G>C (p.Glu901Gln)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.216246693C>T | CA344864220 | USH2A | c.2701G>A (p.Glu901Lys)
| dbSNP gnomAD v4 |
1 | g.216246694A>C | CA344864221 | USH2A | c.2700T>G (p.Cys900Trp)
| |
1 | g.216246694A>G | CA423322518 | USH2A | c.2700T>C (p.Cys900=)
| gnomAD v4 |
1 | g.216246694A>T | CA344864222 | USH2A | c.2700T>A (p.Cys900Ter)
| |
1 | g.216246695C>A | CA344864223 | USH2A | c.2699G>T (p.Cys900Phe)
| |
1 | g.216246695C= | CA1220619084 | USH2A | c.2699G= (p.Cys900=)
| |
1 | g.216246695C>G | CA344864224 | USH2A | c.2699G>C (p.Cys900Ser)
| dbSNP gnomAD v2 |
1 | g.216246695C>T | CA1396186 | USH2A | c.2699G>A (p.Cys900Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.216246696A>C | CA344864225 | USH2A | c.2698T>G (p.Cys900Gly)
| |
1 | g.216246696A>G | CA344864226 | USH2A | c.2698T>C (p.Cys900Arg)
| |
1 | g.216246696A>T | CA344864227 | USH2A | c.2698T>A (p.Cys900Ser)
| |
1 | g.216246697C>A | CA344864228 | USH2A | c.2697G>T (p.Met899Ile)
| |
1 | g.216246697C>G | CA344864229 | USH2A | c.2697G>C (p.Met899Ile)
| |
1 | g.216246697C>T | CA344864230 | USH2A | c.2697G>A (p.Met899Ile)
| gnomAD v4 |
1 | g.216246699_216246705del | CA2650512848 | USH2A | c.2691_2697del (p.Gln898ValfsTer?)
| gnomAD v4 |
1 | g.216246698A= | CA1220619085 | USH2A | c.2696T= (p.Met899=)
| |
1 | g.216246698A>C | CA344864231 | USH2A | c.2696T>G (p.Met899Arg)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.216246698A>G | CA344864232 | USH2A | c.2696T>C (p.Met899Thr)
| dbSNP gnomAD v4 |
1 | g.216246698A>T | CA344864233 | USH2A | c.2696T>A (p.Met899Lys)
| gnomAD v4 |
1 | g.216246699T>A | CA344864235 | USH2A | c.2695A>T (p.Met899Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.216246699T>C | CA344864234 | USH2A | c.2695A>G (p.Met899Val)
| |
1 | g.216246699T>G | CA1396187 | USH2A | c.2695A>C (p.Met899Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.216246699T= | CA1220619086 | USH2A | c.2695A= (p.Met899=)
| |
1 | g.216246700C>A | CA344864236 | USH2A | c.2694G>T (p.Gln898His)
| |
1 | g.216246700C= | CA1220619087 | USH2A | c.2694G= (p.Gln898=)
| |
1 | g.216246700C>G | CA344864237 | USH2A | c.2694G>C (p.Gln898His)
| |
1 | g.216246700C>T | CA423322537 | USH2A | c.2694G>A (p.Gln898=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.216246701T>A | CA344864238 | USH2A | c.2693A>T (p.Gln898Leu)
| |
1 | g.216246701T>C | CA344864239 | USH2A | c.2693A>G (p.Gln898Arg)
| |
1 | g.216246701T>G | CA344864240 | USH2A | c.2693A>C (p.Gln898Pro)
| |
1 | g.216246701_216246714del | CA2650512849 | USH2A | c.2680_2693del (p.Phe894AspfsTer3)
| gnomAD v4 |
1 | g.216246702G>A | CA344864241 | USH2A | c.2692C>T (p.Gln898Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216246702G>C | CA344864242 | USH2A | c.2692C>G (p.Gln898Glu)
| |
1 | g.216246702G= | CA1220619088 | USH2A | c.2692C= (p.Gln898=)
| |
1 | g.216246702G>T | CA344864243 | USH2A | c.2692C>A (p.Gln898Lys)
| |
1 | g.216246703G>A | CA423322548 | USH2A | c.2691C>T (p.Cys897=)
| |
1 | g.216246703G>C | CA344864244 | USH2A | c.2691C>G (p.Cys897Trp)
| |
1 | g.216246703G>T | CA344864245 | USH2A | c.2691C>A (p.Cys897Ter)
| ClinVar gnomAD v4 |
1 | g.216246709_216246710insGAGTGCAAAAAAGAAGCCAAAGGACTTCAGTGTGACACCTGCAGTGT | CA2747735778 | USH2A | c.2691_2692insAGGTGTCACACTGAAGTCCTTTGGCTTCTTTTTTGCACTCACACTGC (p.Gln898ArgfsTer?)
| |
1 | g.216246704C>A | CA1396188 | USH2A | c.2690G>T (p.Cys897Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216246704C= | CA1220619089 | USH2A | c.2690G= (p.Cys897=)
| |
1 | g.216246704C>G | CA344864246 | USH2A | c.2690G>C (p.Cys897Ser)
| |
1 | g.216246704C>T | CA344864247 | USH2A | c.2690G>A (p.Cys897Tyr)
| |
1 | g.216246705A>C | CA344864248 | USH2A | c.2689T>G (p.Cys897Gly)
| |
1 | g.216246705A>G | CA344864250 | USH2A | c.2689T>C (p.Cys897Arg)
| |
1 | g.216246705A>T | CA344864249 | USH2A | c.2689T>A (p.Cys897Ser)
| |
1 | g.216246706G>A | CA1396189 | USH2A | c.2688C>T (p.His896=)
| dbSNP ExAC |
1 | g.216246706G>C | CA344864251 | USH2A | c.2688C>G (p.His896Gln)
| |
1 | g.216246706G= | CA1149036221 | USH2A | c.2688C= (p.His896=)
| |
1 | g.216246706G>T | CA344864252 | USH2A | c.2688C>A (p.His896Gln)
| |
1 | g.216246707T>A | CA344864253 | USH2A | c.2687A>T (p.His896Leu)
| |
1 | g.216246707T>C | CA344864254 | USH2A | c.2687A>G (p.His896Arg)
| |
1 | g.216246707T>G | CA344864255 | USH2A | c.2687A>C (p.His896Pro)
| |
1 | g.216246708G>A | CA344864256 | USH2A | c.2686C>T (p.His896Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.216246708G>C | CA344864257 | USH2A | c.2686C>G (p.His896Asp)
| |
1 | g.216246708G= | CA1220619090 | USH2A | c.2686C= (p.His896=)
| |
1 | g.216246708G>T | CA344864258 | USH2A | c.2686C>A (p.His896Asn)
| |
1 | g.216246709T>A | CA344864259 | USH2A | c.2685A>T (p.Gln895His)
| |
1 | g.216246709T>C | CA423322577 | USH2A | c.2685A>G (p.Gln895=)
| gnomAD v4 |
1 | g.216246709T>G | CA344864260 | USH2A | c.2685A>C (p.Gln895His)
| |
1 | g.216246710T>A | CA344864262 | USH2A | c.2684A>T (p.Gln895Leu)
| |
1 | g.216246710T>C | CA344864263 | USH2A | c.2684A>G (p.Gln895Arg)
| |
1 | g.216246710T>G | CA344864261 | USH2A | c.2684A>C (p.Gln895Pro)
| |
1 | g.216246711G>A | CA344864266 | USH2A | c.2683C>T (p.Gln895Ter)
| ClinVar |
1 | g.216246711G>C | CA344864264 | USH2A | c.2683C>G (p.Gln895Glu)
| |
1 | g.216246711G>T | CA344864265 | USH2A | c.2683C>A (p.Gln895Lys)
| |
1 | g.216246712A>C | CA344864267 | USH2A | c.2682T>G (p.Phe894Leu)
| |
1 | g.216246712A>G | CA423322589 | USH2A | c.2682T>C (p.Phe894=)
| |
1 | g.216246712A>T | CA344864268 | USH2A | c.2682T>A (p.Phe894Leu)
| |
1 | g.216246715del | CA2573132758 | USH2A | c.2682del (p.Gln895AsnfsTer?)
| ClinVar dbSNP |
1 | g.216246713A>C | CA344864269 | USH2A | c.2681T>G (p.Phe894Cys)
| |
1 | g.216246713A>G | CA344864270 | USH2A | c.2681T>C (p.Phe894Ser)
| |
1 | g.216246713A>T | CA344864271 | USH2A | c.2681T>A (p.Phe894Tyr)
| |
1 | g.216246714A= | CA1220619091 | USH2A | c.2680T= (p.Phe894=)
| |
1 | g.216246714A>C | CA344864272 | USH2A | c.2680T>G (p.Phe894Val)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216246714A>G | CA344864273 | USH2A | c.2680T>C (p.Phe894Leu)
| |
1 | g.216246714A>T | CA344864274 | USH2A | c.2680T>A (p.Phe894Ile)
| |
1 | g.216246715A= | CA1220619092 | USH2A | c.2679T= (p.Asn893=)
| |
1 | g.216246715A>C | CA1396190 | USH2A | c.2679T>G (p.Asn893Lys)
| dbSNP ExAC gnomAD v2 |
1 | g.216246715A>G | CA423322602 | USH2A | c.2679T>C (p.Asn893=)
| dbSNP |
1 | g.216246715A>T | CA344864275 | USH2A | c.2679T>A (p.Asn893Lys)
| |
1 | g.216246716T>A | CA344864278 | USH2A | c.2678A>T (p.Asn893Ile)
| |
1 | g.216246716T>C | CA344864276 | USH2A | c.2678A>G (p.Asn893Ser)
| |
1 | g.216246716T>G | CA344864277 | USH2A | c.2678A>C (p.Asn893Thr)
| |
1 | g.216246717T>A | CA344864279 | USH2A | c.2677A>T (p.Asn893Tyr)
| |
1 | g.216246717T>C | CA344864280 | USH2A | c.2677A>G (p.Asn893Asp)
| gnomAD v4 |
1 | g.216246717T>G | CA344864281 | USH2A | c.2677A>C (p.Asn893His)
| |
1 | g.216246718G>A | CA423322613 | USH2A | c.2676C>T (p.Asp892=)
| dbSNP |
1 | g.216246718G>C | CA344864282 | USH2A | c.2676C>G (p.Asp892Glu)
| |
1 | g.216246718G= | CA1220619093 | USH2A | c.2676C= (p.Asp892=)
| |
1 | g.216246718G>T | CA344864283 | USH2A | c.2676C>A (p.Asp892Glu)
| |
1 | g.216246719T>A | CA344864284 | USH2A | c.2675A>T (p.Asp892Val)
| |
1 | g.216246719T>C | CA344864285 | USH2A | c.2675A>G (p.Asp892Gly)
| COSMIC COSMIC COSMIC |
1 | g.216246719T>G | CA344864286 | USH2A | c.2675A>C (p.Asp892Ala)
| |
1 | g.216246720C>A | CA344864287 | USH2A | c.2674G>T (p.Asp892Tyr)
| |
1 | g.216246720C>G | CA344864288 | USH2A | c.2674G>C (p.Asp892His)
| |
1 | g.216246720C>T | CA344864289 | USH2A | c.2674G>A (p.Asp892Asn)
| gnomAD v4 |
1 | g.216246721A>C | CA344864290 | USH2A | c.2673T>G (p.Ile891Met)
| |
1 | g.216246721A>G | CA423322624 | USH2A | c.2673T>C (p.Ile891=)
| |
1 | g.216246721A>T | CA423322626 | USH2A | c.2673T>A (p.Ile891=)
| |
1 | g.216246722A= | CA1146410131 | USH2A | c.2672T= (p.Ile891=)
| |
1 | g.216246722A>C | CA344864291 | USH2A | c.2672T>G (p.Ile891Ser)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.216246722A>G | CA1396191 | USH2A | c.2672T>C (p.Ile891Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216246722A>T | CA1396192 | USH2A | c.2672T>A (p.Ile891Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.216246723T>A | CA344864292 | USH2A | c.2671A>T (p.Ile891Phe)
| |
1 | g.216246723T>C | CA344864293 | USH2A | c.2671A>G (p.Ile891Val)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.216246723T>G | CA344864294 | USH2A | c.2671A>C (p.Ile891Leu)
| |
1 | g.216246723T= | CA1220619094 | USH2A | c.2671A= (p.Ile891=)
| |
1 | g.216246724G>A | CA423322642 | USH2A | c.2670C>T (p.Thr890=)
| |
1 | g.216246724G>C | CA423322640 | USH2A | c.2670C>G (p.Thr890=)
| |
1 | g.216246724G= | CA1220619095 | USH2A | c.2670C= (p.Thr890=)
| |
1 | g.216246724G>T | CA423322638 | USH2A | c.2670C>A (p.Thr890=)
| ClinVar dbSNP gnomAD v2 |
1 | g.216246724_216246725delinsTT | CA645515382 | USH2A | c.2669_2670delinsAA (p.Thr890Lys)
| COSMIC COSMIC COSMIC |
1 | g.216246725del | CA2580062116 | USH2A | c.2670del (p.Ile891LeufsTer?)
| ClinVar |
1 | g.216246725G>A | CA1396193 | USH2A | c.2669C>T (p.Thr890Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216246725G>C | CA344864295 | USH2A | c.2669C>G (p.Thr890Ser)
| |
1 | g.216246725G= | CA1220619096 | USH2A | c.2669C= (p.Thr890=)
| |
1 | g.216246725G>T | CA344864296 | USH2A | c.2669C>A (p.Thr890Asn)
| |
1 | g.216246726T>A | CA344864297 | USH2A | c.2668A>T (p.Thr890Ser)
| |
1 | g.216246726T>C | CA344864298 | USH2A | c.2668A>G (p.Thr890Ala)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.216246726T>G | CA344864299 | USH2A | c.2668A>C (p.Thr890Pro)
| gnomAD v4 |
1 | g.216246726T= | CA1220619097 | USH2A | c.2668A= (p.Thr890=)
| |
1 | g.216246727C>A | CA344864300 | USH2A | c.2667G>T (p.Leu889Phe)
| |
1 | g.216246727C>G | CA344864301 | USH2A | c.2667G>C (p.Leu889Phe)
| COSMIC COSMIC COSMIC |
1 | g.216246727C>T | CA423322654 | USH2A | c.2667G>A (p.Leu889=)
| gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.216246728A= | CA1220619098 | USH2A | c.2666T= (p.Leu889=)
| |
1 | g.216246728A>C | CA344864302 | USH2A | c.2666T>G (p.Leu889Trp)
| gnomAD v4 |
1 | g.216246728A>G | CA344864303 | USH2A | c.2666T>C (p.Leu889Ser)
| |
1 | g.216246728A>T | CA344864304 | USH2A | c.2666T>A (p.Leu889Ter)
| ClinVar dbSNP |
1 | g.216246729A= | CA1220619099 | USH2A | c.2665T= (p.Leu889=)
| |
1 | g.216246729A>C | CA344864305 | USH2A | c.2665T>G (p.Leu889Val)
| gnomAD v4 |
1 | g.216246729A>G | CA423322663 | USH2A | c.2665T>C (p.Leu889=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216246729A>T | CA344864306 | USH2A | c.2665T>A (p.Leu889Met)
| |
1 | g.216246730A>C | CA344864307 | USH2A | c.2664T>G (p.Asn888Lys)
| |
1 | g.216246730A>G | CA423322666 | USH2A | c.2664T>C (p.Asn888=)
| ClinVar |
1 | g.216246730A>T | CA344864308 | USH2A | c.2664T>A (p.Asn888Lys)
| |
1 | g.216246731T>A | CA344864309 | USH2A | c.2663A>T (p.Asn888Ile)
| |
1 | g.216246731T>C | CA344864310 | USH2A | c.2663A>G (p.Asn888Ser)
| |
1 | g.216246731T>G | CA344864311 | USH2A | c.2663A>C (p.Asn888Thr)
| |
1 | g.216246732T>A | CA344864312 | USH2A | c.2662A>T (p.Asn888Tyr)
| |
1 | g.216246732T>C | CA344864313 | USH2A | c.2662A>G (p.Asn888Asp)
| |
1 | g.216246732T>G | CA344864314 | USH2A | c.2662A>C (p.Asn888His)
| |
1 | g.216246733G>A | CA423322677 | USH2A | c.2661C>T (p.Tyr887=)
| dbSNP gnomAD v4 |
1 | g.216246733G>C | CA10581646 | USH2A | c.2661C>G (p.Tyr887Ter)
| ClinVar dbSNP |
1 | g.216246733G= | CA1220619100 | USH2A | c.2661C= (p.Tyr887=)
| |
1 | g.216246733G>T | CA344864315 | USH2A | c.2661C>A (p.Tyr887Ter)
| |
1 | g.216246734T>A | CA344864316 | USH2A | c.2660A>T (p.Tyr887Phe)
| |
1 | g.216246734T>C | CA344864317 | USH2A | c.2660A>G (p.Tyr887Cys)
| |
1 | g.216246734T>G | CA344864318 | USH2A | c.2660A>C (p.Tyr887Ser)
| |
1 | g.216246735A>C | CA344864321 | USH2A | c.2659T>G (p.Tyr887Asp)
| |
1 | g.216246735A>G | CA344864320 | USH2A | c.2659T>C (p.Tyr887His)
| |
1 | g.216246735A>T | CA344864319 | USH2A | c.2659T>A (p.Tyr887Asn)
| |
1 | g.216246736C>A | CA344864322 | USH2A | c.2658G>T (p.Arg886Ser)
| |
1 | g.216246736C= | CA1220619101 | USH2A | c.2658G= (p.Arg886=)
| |
1 | g.216246736C>G | CA344864323 | USH2A | c.2658G>C (p.Arg886Ser)
| |
1 | g.216246736C>T | CA1396194 | USH2A | c.2658G>A (p.Arg886=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.216246737C>A | CA344864324 | USH2A | c.2657G>T (p.Arg886Met)
| |
1 | g.216246737C>G | CA344864326 | USH2A | c.2657G>C (p.Arg886Thr)
| |
1 | g.216246737C>T | CA344864325 | USH2A | c.2657G>A (p.Arg886Lys)
| gnomAD v4 |
1 | g.216246738T>A | CA344864327 | USH2A | c.2656A>T (p.Arg886Trp)
| |
1 | g.216246738T>C | CA344864328 | USH2A | c.2656A>G (p.Arg886Gly)
| |
1 | g.216246738T>G | CA423322702 | USH2A | c.2656A>C (p.Arg886=)
| |
1 | g.216246739G>A | CA423322703 | USH2A | c.2655C>T (p.His885=)
| dbSNP gnomAD v4 |
1 | g.216246739G>C | CA344864329 | USH2A | c.2655C>G (p.His885Gln)
| gnomAD v4 |
1 | g.216246739G= | CA1220619102 | USH2A | c.2655C= (p.His885=)
| |
1 | g.216246739G>T | CA344864330 | USH2A | c.2655C>A (p.His885Gln)
| |
1 | g.216246740T>A | CA344864331 | USH2A | c.2654A>T (p.His885Leu)
| |
1 | g.216246740T>C | CA344864332 | USH2A | c.2654A>G (p.His885Arg)
| |
1 | g.216246740T>G | CA344864333 | USH2A | c.2654A>C (p.His885Pro)
| gnomAD v4 |
1 | g.216246741G>A | CA1396195 | USH2A | c.2653C>T (p.His885Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216246741G>C | CA344864334 | USH2A | c.2653C>G (p.His885Asp)
| |
1 | g.216246741G= | CA1148283335 | USH2A | c.2653C= (p.His885=)
| |
1 | g.216246741G>T | CA344864335 | USH2A | c.2653C>A (p.His885Asn)
| |
1 | g.216246742A>C | CA423322716 | USH2A | c.2652T>G (p.Pro884=)
| |
1 | g.216246742A>G | CA423322718 | USH2A | c.2652T>C (p.Pro884=)
| |
1 | g.216246742A>T | CA423322723 | USH2A | c.2652T>A (p.Pro884=)
| |
1 | g.216246743G>A | CA344864336 | USH2A | c.2651C>T (p.Pro884Leu)
| dbSNP |
1 | g.216246743G>C | CA344864337 | USH2A | c.2651C>G (p.Pro884Arg)
| |
1 | g.216246743G= | CA1220619103 | USH2A | c.2651C= (p.Pro884=)
| |
1 | g.216246743G>T | CA344864338 | USH2A | c.2651C>A (p.Pro884His)
| |
1 | g.216246744G>A | CA344864339 | USH2A | c.2650C>T (p.Pro884Ser)
| |
1 | g.216246744G>C | CA344864341 | USH2A | c.2650C>G (p.Pro884Ala)
| |
1 | g.216246744G= | CA1220619104 | USH2A | c.2650C= (p.Pro884=)
| |
1 | g.216246744G>T | CA344864340 | USH2A | c.2650C>A (p.Pro884Thr)
| |
1 | g.216246744_216246745delinsGC | CA1220619105 | USH2A | c.2649_2650delinsGC (p.Glu883=)
| |
1 | g.216246745del | CA1220619106 | USH2A | c.2649del (p.Glu883AspfsTer7)
| ClinVar dbSNP |
1 | g.216246745C>A | CA344864342 | USH2A | c.2649G>T (p.Glu883Asp)
| COSMIC COSMIC COSMIC |
1 | g.216246745C>G | CA344864343 | USH2A | c.2649G>C (p.Glu883Asp)
| |
1 | g.216246745C>T | CA423322733 | USH2A | c.2649G>A (p.Glu883=)
| ClinVar dbSNP |
1 | g.216246745dup | CA916082143 | USH2A | c.2649dup (p.Pro884AlafsTer9)
| ClinVar dbSNP gnomAD v4 |
1 | g.216246746T>A | CA344864344 | USH2A | c.2648A>T (p.Glu883Val)
| |
1 | g.216246746T>C | CA344864345 | USH2A | c.2648A>G (p.Glu883Gly)
| |
1 | g.216246746T>G | CA344864346 | USH2A | c.2648A>C (p.Glu883Ala)
| |
1 | g.216246747C>A | CA344864347 | USH2A | c.2647G>T (p.Glu883Ter)
| ClinVar |
1 | g.216246747C>G | CA344864348 | USH2A | c.2647G>C (p.Glu883Gln)
| |
1 | g.216246747C>T | CA344864349 | USH2A | c.2647G>A (p.Glu883Lys)
| |
1 | g.216246748A>C | CA344864350 | USH2A | c.2646T>G (p.Cys882Trp)
| |
1 | g.216246748A>G | CA423322747 | USH2A | c.2646T>C (p.Cys882=)
| gnomAD v4 |
1 | g.216246748A>T | CA344864351 | USH2A | c.2646T>A (p.Cys882Ter)
| |
1 | g.216246749C>A | CA344864354 | USH2A | c.2645G>T (p.Cys882Phe)
| |
1 | g.216246749C>G | CA344864353 | USH2A | c.2645G>C (p.Cys882Ser)
| |
1 | g.216246749C>T | CA344864352 | USH2A | c.2645G>A (p.Cys882Tyr)
| gnomAD v4 |
1 | g.216246750A>C | CA344864357 | USH2A | c.2644T>G (p.Cys882Gly)
| |
1 | g.216246750A>G | CA344864355 | USH2A | c.2644T>C (p.Cys882Arg)
| |
1 | g.216246750A>T | CA344864356 | USH2A | c.2644T>A (p.Cys882Ser)
| gnomAD v4 |