1 | g.215798871C>T | CA2650503208 | USH2A | c.9958+36G>A (n.9958+36G>A)
| gnomAD v4 |
1 | g.215798873T>A | CA1220425878 | USH2A | c.9958+34A>T (n.9958+34A>T)
| dbSNP |
1 | g.215798873T= | CA1220425877 | USH2A | c.9958+34A= (n.9958+34A=)
| |
1 | g.215798875C= | CA1142459100 | USH2A | c.9958+32G= (n.9958+32G=)
| |
1 | g.215798875C>T | CA1394167 | USH2A | c.9958+32G>A (n.9958+32G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215798876A= | CA1220425882 | USH2A | c.9958+31T= (n.9958+31T=)
| |
1 | g.215798876A>G | CA37448379 | USH2A | c.9958+31T>C (n.9958+31T>C)
| dbSNP gnomAD v4 |
1 | g.215798876A>T | CA2650503209 | USH2A | c.9958+31T>A (n.9958+31T>A)
| gnomAD v4 |
1 | g.215798878C>T | CA2650503210 | USH2A | c.9958+29G>A (n.9958+29G>A)
| gnomAD v4 |
1 | g.215798879T>C | CA1394168 | USH2A | c.9958+28A>G (n.9958+28A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215798879T= | CA1148260558 | USH2A | c.9958+28A= (n.9958+28A=)
| |
1 | g.215798881del | CA2650503211 | USH2A | c.9958+26del (n.9958+26del)
| gnomAD v4 |
1 | g.215798882T>C | CA2650503212 | USH2A | c.9958+25A>G (n.9958+25A>G)
| gnomAD v4 |
1 | g.215798883G>A | CA2650503213 | USH2A | c.9958+24C>T (n.9958+24C>T)
| gnomAD v4 |
1 | g.215798884A>G | CA2650503214 | USH2A | c.9958+23T>C (n.9958+23T>C)
| gnomAD v4 |
1 | g.215798886A= | CA1220425886 | USH2A | c.9958+21T= (n.9958+21T=)
| |
1 | g.215798886_215798887insC | CA529002303 | USH2A | c.9958+20_9958+21insG (n.9958+20_9958+21insG)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215798888G>A | CA37448390 | USH2A | c.9958+19C>T (n.9958+19C>T)
| dbSNP |
1 | g.215798888G>C | CA2573131583 | USH2A | c.9958+19C>G (n.9958+19C>G)
| ClinVar dbSNP |
1 | g.215798888G= | CA1220425888 | USH2A | c.9958+19C= (n.9958+19C=)
| |
1 | g.215798890A= | CA1220425889 | USH2A | c.9958+17T= (n.9958+17T=)
| |
1 | g.215798890A>G | CA1394169 | USH2A | c.9958+17T>C (n.9958+17T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215798893C= | CA1220425890 | USH2A | c.9958+14G= (n.9958+14G=)
| |
1 | g.215798893C>G | CA1394170 | USH2A | c.9958+14G>C (n.9958+14G>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215798893C>T | CA2650503215 | USH2A | c.9958+14G>A (n.9958+14G>A)
| gnomAD v4 |
1 | g.215798894C>A | CA646410877 | USH2A | c.9958+13G>T (n.9958+13G>T)
| COSMIC |
1 | g.215798894C= | CA1149047109 | USH2A | c.9958+13G= (n.9958+13G=)
| |
1 | g.215798894C>G | CA529002304 | USH2A | c.9958+13G>C (n.9958+13G>C)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.215798894C>T | CA1394171 | USH2A | c.9958+13G>A (n.9958+13G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215798895T>C | CA529002305 | USH2A | c.9958+12A>G (n.9958+12A>G)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215798895T= | CA1220425893 | USH2A | c.9958+12A= (n.9958+12A=)
| |
1 | g.215798896G>A | CA1394172 | USH2A | c.9958+11C>T (n.9958+11C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215798896G>C | CA2650503216 | USH2A | c.9958+11C>G (n.9958+11C>G)
| gnomAD v4 |
1 | g.215798896G= | CA1220425894 | USH2A | c.9958+11C= (n.9958+11C=)
| |
1 | g.215798898G>T | CA2698061503 | USH2A | c.9958+9C>A (n.9958+9C>A)
| dbSNP |
1 | g.215798898_215798899delinsGC | CA1220425895 | USH2A | c.9958+8_9958+9delinsGC (n.9958+8_9958+9delinsGC)
| |
1 | g.215798899C>A | CA10605441 | USH2A | c.9958+8G>T (n.9958+8G>T)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.215798899C= | CA1143726346 | USH2A | c.9958+8G= (n.9958+8G=)
| |
1 | g.215798899C>T | CA1394173 | USH2A | c.9958+8G>A (n.9958+8G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215798902del | CA529002306 | USH2A | c.9958+8del (n.9958+8del)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.215798900C>A | CA37448456 | USH2A | c.9958+7G>T (n.9958+7G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215798900C= | CA1141734315 | USH2A | c.9958+7G= (n.9958+7G=)
| |
1 | g.215798900C>T | CA1220425899 | USH2A | c.9958+7G>A (n.9958+7G>A)
| ClinVar dbSNP gnomAD v4 |
1 | g.215798901C= | CA1220425901 | USH2A | c.9958+6G= (n.9958+6G=)
| |
1 | g.215798901C>T | CA658795597 | USH2A | c.9958+6G>A (n.9958+6G>A)
| ClinVar dbSNP |
1 | g.215798903T>C | CA529002307 | USH2A | c.9958+4A>G (n.9958+4A>G)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.215798903T= | CA1220425904 | USH2A | c.9958+4A= (n.9958+4A=)
| |
1 | g.215798905A>C | CA344848119 | USH2A | c.9958+2T>G (n.9958+2T>G)
| |
1 | g.215798905A>G | CA344848127 | USH2A | c.9958+2T>C (n.9958+2T>C)
| ClinVar dbSNP |
1 | g.215798905A>T | CA344848123 | USH2A | c.9958+2T>A (n.9958+2T>A)
| |
1 | g.215798906C>A | CA344848137 | USH2A | c.9958+1G>T (n.9958+1G>T)
| |
1 | g.215798906C>G | CA344848139 | USH2A | c.9958+1G>C (n.9958+1G>C)
| ClinVar |
1 | g.215798906C>T | CA344848141 | USH2A | c.9958+1G>A (n.9958+1G>A)
| |
1 | g.215798907del | CA2650503217 | USH2A | c.9958+1del
| gnomAD v4 |
1 | g.215798907C>A | CA344848146 | USH2A | c.9958G>T (p.Gly3320Cys)
| ClinVar dbSNP |
1 | g.215798907C= | CA1220425906 | USH2A | c.9958G= (p.Gly3320=)
| |
1 | g.215798907C>G | CA344848149 | USH2A | c.9958G>C (p.Gly3320Arg)
| |
1 | g.215798907C>T | CA344848151 | USH2A | c.9958G>A (p.Gly3320Ser)
| ClinVar |
1 | g.215798908T>A | CA423430135 | USH2A | c.9957A>T (p.Pro3319=)
| |
1 | g.215798908T>C | CA423430139 | USH2A | c.9957A>G (p.Pro3319=)
| ClinVar |
1 | g.215798908T>G | CA423430136 | USH2A | c.9957A>C (p.Pro3319=)
| |
1 | g.215798909G>A | CA1394174 | USH2A | c.9956C>T (p.Pro3319Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215798909G>C | CA344848155 | USH2A | c.9956C>G (p.Pro3319Arg)
| |
1 | g.215798909G= | CA1220425911 | USH2A | c.9956C= (p.Pro3319=)
| |
1 | g.215798909G>T | CA344848157 | USH2A | c.9956C>A (p.Pro3319Gln)
| |
1 | g.215798910G>A | CA344848160 | USH2A | c.9955C>T (p.Pro3319Ser)
| COSMIC COSMIC |
1 | g.215798910G>C | CA344848161 | USH2A | c.9955C>G (p.Pro3319Ala)
| |
1 | g.215798910G>T | CA344848162 | USH2A | c.9955C>A (p.Pro3319Thr)
| |
1 | g.215798911A>C | CA423430141 | USH2A | c.9954T>G (p.Leu3318=)
| |
1 | g.215798911A>G | CA423430142 | USH2A | c.9954T>C (p.Leu3318=)
| |
1 | g.215798911A>T | CA423430143 | USH2A | c.9954T>A (p.Leu3318=)
| ClinVar dbSNP |
1 | g.215798912A= | CA1220425917 | USH2A | c.9953T= (p.Leu3318=)
| |
1 | g.215798912A>C | CA344848168 | USH2A | c.9953T>G (p.Leu3318Arg)
| |
1 | g.215798912A>G | CA1394175 | USH2A | c.9953T>C (p.Leu3318Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.215798912A>T | CA344848165 | USH2A | c.9953T>A (p.Leu3318His)
| |
1 | g.215798913G>A | CA344848172 | USH2A | c.9952C>T (p.Leu3318Phe)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.215798913G>C | CA344848174 | USH2A | c.9952C>G (p.Leu3318Val)
| |
1 | g.215798913G= | CA1220425920 | USH2A | c.9952C= (p.Leu3318=)
| |
1 | g.215798913G>T | CA344848177 | USH2A | c.9952C>A (p.Leu3318Ile)
| |
1 | g.215798913_215798914insC | CA423430146 | USH2A | c.9951_9952insG (p.Leu3318AlafsTer28)
| |
1 | g.215798914G>A | CA423430148 | USH2A | c.9951C>T (p.Arg3317=)
| |
1 | g.215798914G>C | CA423430150 | USH2A | c.9951C>G (p.Arg3317=)
| |
1 | g.215798914G= | CA1220425924 | USH2A | c.9951C= (p.Arg3317=)
| |
1 | g.215798914G>T | CA423430152 | USH2A | c.9951C>A (p.Arg3317=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.215798915C>A | CA344848180 | USH2A | c.9950G>T (p.Arg3317Leu)
| gnomAD v4 |
1 | g.215798915C= | CA1141761923 | USH2A | c.9950G= (p.Arg3317=)
| |
1 | g.215798915C>G | CA344848186 | USH2A | c.9950G>C (p.Arg3317Pro)
| |
1 | g.215798915C>T | CA1394176 | USH2A | c.9950G>A (p.Arg3317His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.215798916G>A | CA1394177 | USH2A | c.9949C>T (p.Arg3317Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.215798916G>C | CA344848194 | USH2A | c.9949C>G (p.Arg3317Gly)
| |
1 | g.215798916G= | CA1143434149 | USH2A | c.9949C= (p.Arg3317=)
| |
1 | g.215798916G>T | CA344848197 | USH2A | c.9949C>A (p.Arg3317Ser)
| |
1 | g.215798917A>C | CA344848200 | USH2A | c.9948T>G (p.Asn3316Lys)
| |
1 | g.215798917A>G | CA423430157 | USH2A | c.9948T>C (p.Asn3316=)
| |
1 | g.215798917A>T | CA344848203 | USH2A | c.9948T>A (p.Asn3316Lys)
| |
1 | g.215798917dup | CA731366562 | USH2A | c.9948dup (p.Arg3317SerfsTer29)
| dbSNP |
1 | g.215798918T>A | CA344848212 | USH2A | c.9947A>T (p.Asn3316Ile)
| gnomAD v4 |
1 | g.215798918T>C | CA1394178 | USH2A | c.9947A>G (p.Asn3316Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215798918T>G | CA344848206 | USH2A | c.9947A>C (p.Asn3316Thr)
| |
1 | g.215798918T= | CA1144213022 | USH2A | c.9947A= (p.Asn3316=)
| |
1 | g.215798919T>A | CA344848215 | USH2A | c.9946A>T (p.Asn3316Tyr)
| |
1 | g.215798919T>C | CA344848221 | USH2A | c.9946A>G (p.Asn3316Asp)
| |
1 | g.215798919T>G | CA344848219 | USH2A | c.9946A>C (p.Asn3316His)
| gnomAD v4 |
1 | g.215798920_215798921del | CA2650503218 | USH2A | c.9945_9946del (p.Tyr3315Ter)
| gnomAD v4 |
1 | g.215798920G>A | CA423430161 | USH2A | c.9945C>T (p.Tyr3315=)
| dbSNP gnomAD v4 |
1 | g.215798920G>C | CA344848227 | USH2A | c.9945C>G (p.Tyr3315Ter)
| |
1 | g.215798920G= | CA1220425937 | USH2A | c.9945C= (p.Tyr3315=)
| |
1 | g.215798920G>T | CA344848228 | USH2A | c.9945C>A (p.Tyr3315Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.215798920dup | CA2695199991 | USH2A | c.9945dup (p.Asn3316GlnfsTer30)
| ClinVar |
1 | g.215798921T>A | CA344848232 | USH2A | c.9944A>T (p.Tyr3315Phe)
| COSMIC COSMIC |
1 | g.215798921T>C | CA344848240 | USH2A | c.9944A>G (p.Tyr3315Cys)
| ClinVar dbSNP COSMIC COSMIC |
1 | g.215798921T>G | CA344848243 | USH2A | c.9944A>C (p.Tyr3315Ser)
| |
1 | g.215798921T= | CA1220425940 | USH2A | c.9944A= (p.Tyr3315=)
| |
1 | g.215798922A>C | CA344848255 | USH2A | c.9943T>G (p.Tyr3315Asp)
| |
1 | g.215798922A>G | CA344848251 | USH2A | c.9943T>C (p.Tyr3315His)
| |
1 | g.215798922A>T | CA344848246 | USH2A | c.9943T>A (p.Tyr3315Asn)
| |
1 | g.215798923C>A | CA423430167 | USH2A | c.9942G>T (p.Val3314=)
| |
1 | g.215798923C>G | CA423430169 | USH2A | c.9942G>C (p.Val3314=)
| gnomAD v4 |
1 | g.215798923C>T | CA423430168 | USH2A | c.9942G>A (p.Val3314=)
| ClinVar gnomAD v4 |
1 | g.215798924A= | CA1220425944 | USH2A | c.9941T= (p.Val3314=)
| |
1 | g.215798924A>C | CA344848258 | USH2A | c.9941T>G (p.Val3314Gly)
| dbSNP gnomAD v2 |
1 | g.215798924A>G | CA37448474 | USH2A | c.9941T>C (p.Val3314Ala)
| ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
1 | g.215798924A>T | CA344848260 | USH2A | c.9941T>A (p.Val3314Glu)
| |
1 | g.215798925C>A | CA344848261 | USH2A | c.9940G>T (p.Val3314Leu)
| COSMIC COSMIC |
1 | g.215798925C= | CA1220425948 | USH2A | c.9940G= (p.Val3314=)
| |
1 | g.215798925C>G | CA344848262 | USH2A | c.9940G>C (p.Val3314Leu)
| |
1 | g.215798925C>T | CA344848263 | USH2A | c.9940G>A (p.Val3314Met)
| dbSNP gnomAD v4 COSMIC COSMIC |
1 | g.215798926C>A | CA423430176 | USH2A | c.9939G>T (p.Val3313=)
| |
1 | g.215798926C= | CA1220425952 | USH2A | c.9939G= (p.Val3313=)
| |
1 | g.215798926C>G | CA423430177 | USH2A | c.9939G>C (p.Val3313=)
| |
1 | g.215798926C>T | CA423430178 | USH2A | c.9939G>A (p.Val3313=)
| ClinVar dbSNP |
1 | g.215798927A>C | CA344848265 | USH2A | c.9938T>G (p.Val3313Gly)
| |
1 | g.215798927A>G | CA344848270 | USH2A | c.9938T>C (p.Val3313Ala)
| gnomAD v4 |
1 | g.215798927A>T | CA344848269 | USH2A | c.9938T>A (p.Val3313Glu)
| |
1 | g.215798928C>A | CA344848274 | USH2A | c.9937G>T (p.Val3313Leu)
| |
1 | g.215798928C>G | CA344848277 | USH2A | c.9937G>C (p.Val3313Leu)
| COSMIC COSMIC |
1 | g.215798928C>T | CA344848280 | USH2A | c.9937G>A (p.Val3313Met)
| |
1 | g.215798929T>A | CA423430180 | USH2A | c.9936A>T (p.Gly3312=)
| |
1 | g.215798929T>C | CA423430182 | USH2A | c.9936A>G (p.Gly3312=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.215798929T>G | CA423430181 | USH2A | c.9936A>C (p.Gly3312=)
| |
1 | g.215798929T= | CA1220425954 | USH2A | c.9936A= (p.Gly3312=)
| |
1 | g.215798930C>A | CA344848283 | USH2A | c.9935G>T (p.Gly3312Val)
| |
1 | g.215798930C>G | CA344848285 | USH2A | c.9935G>C (p.Gly3312Ala)
| |
1 | g.215798930C>T | CA344848288 | USH2A | c.9935G>A (p.Gly3312Glu)
| COSMIC COSMIC |
1 | g.215798930_215798933delinsCCTT | CA1220425957 | USH2A | c.9932_9935delinsAAGG (p.Glu3311=)
| |
1 | g.215798931C>A | CA344848291 | USH2A | c.9934G>T (p.Gly3312Ter)
| |
1 | g.215798931C>G | CA344848294 | USH2A | c.9934G>C (p.Gly3312Arg)
| |
1 | g.215798931C>T | CA344848300 | USH2A | c.9934G>A (p.Gly3312Arg)
| gnomAD v4 COSMIC COSMIC |
1 | g.215798936_215798938del | CA731366581 | USH2A | c.9932_9934del (p.Glu3311del)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.215798932T>A | CA344848305 | USH2A | c.9933A>T (p.Glu3311Asp)
| COSMIC COSMIC |
1 | g.215798932T>C | CA423430187 | USH2A | c.9933A>G (p.Glu3311=)
| gnomAD v4 |
1 | g.215798932T>G | CA344848306 | USH2A | c.9933A>C (p.Glu3311Asp)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215798932T= | CA1220425961 | USH2A | c.9933A= (p.Glu3311=)
| |
1 | g.215798933T>A | CA344848307 | USH2A | c.9932A>T (p.Glu3311Val)
| |
1 | g.215798933T>C | CA344848309 | USH2A | c.9932A>G (p.Glu3311Gly)
| |
1 | g.215798933T>G | CA344848308 | USH2A | c.9932A>C (p.Glu3311Ala)
| |
1 | g.215798934C>A | CA344848312 | USH2A | c.9931G>T (p.Glu3311Ter)
| |
1 | g.215798934C>G | CA344848314 | USH2A | c.9931G>C (p.Glu3311Gln)
| |
1 | g.215798934C>T | CA344848317 | USH2A | c.9931G>A (p.Glu3311Lys)
| |
1 | g.215798935T>A | CA344848320 | USH2A | c.9930A>T (p.Glu3310Asp)
| |
1 | g.215798935T>C | CA423430193 | USH2A | c.9930A>G (p.Glu3310=)
| gnomAD v4 |
1 | g.215798935T>G | CA344848324 | USH2A | c.9930A>C (p.Glu3310Asp)
| |
1 | g.215798936T>A | CA344848327 | USH2A | c.9929A>T (p.Glu3310Val)
| |
1 | g.215798936T>C | CA344848330 | USH2A | c.9929A>G (p.Glu3310Gly)
| |
1 | g.215798936T>G | CA344848332 | USH2A | c.9929A>C (p.Glu3310Ala)
| |
1 | g.215798936_215798939delinsTCTC | CA1220425963 | USH2A | c.9926_9929delinsGAGA (p.Gly3309=)
| |
1 | g.215798937C>A | CA344848336 | USH2A | c.9928G>T (p.Glu3310Ter)
| |
1 | g.215798937C= | CA1220425966 | USH2A | c.9928G= (p.Glu3310=)
| |
1 | g.215798937C>G | CA344848340 | USH2A | c.9928G>C (p.Glu3310Gln)
| gnomAD v4 |
1 | g.215798937C>T | CA344848344 | USH2A | c.9928G>A (p.Glu3310Lys)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215798938_215798940del | CA529002308 | USH2A | c.9926_9928del (p.Gly3309del)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215798938T>A | CA423430197 | USH2A | c.9927A>T (p.Gly3309=)
| ClinVar |
1 | g.215798938T>C | CA423430199 | USH2A | c.9927A>G (p.Gly3309=)
| COSMIC COSMIC |
1 | g.215798938T>G | CA423430196 | USH2A | c.9927A>C (p.Gly3309=)
| |
1 | g.215798938_215798941del | CA913072796 | USH2A | c.9924_9927del (p.Gly3309LysfsTer20)
| |
1 | g.215798938_215798941delinsTCCA | CA1220425969 | USH2A | c.9924_9927delinsTGGA (p.Gly3308=)
| |
1 | g.215798938_215798941dup | CA2586968169 | USH2A | c.9924_9927dup (p.Glu3310TrpfsTer?)
| |
1 | g.215798939C>A | CA344848362 | USH2A | c.9926G>T (p.Gly3309Val)
| COSMIC |
1 | g.215798939C= | CA1220425975 | USH2A | c.9926G= (p.Gly3309=)
| |
1 | g.215798939C>G | CA344848359 | USH2A | c.9926G>C (p.Gly3309Ala)
| dbSNP |
1 | g.215798939C>T | CA344848352 | USH2A | c.9926G>A (p.Gly3309Glu)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.215798943_215798945del | CA1394179 | USH2A | c.9924_9926del (p.Gly3309del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215798940C>A | CA344848368 | USH2A | c.9925G>T (p.Gly3309Ter)
| |
1 | g.215798940C>G | CA344848371 | USH2A | c.9925G>C (p.Gly3309Arg)
| |
1 | g.215798940C>T | CA344848378 | USH2A | c.9925G>A (p.Gly3309Arg)
| |
1 | g.215798941A>C | CA423430202 | USH2A | c.9924T>G (p.Gly3308=)
| |
1 | g.215798941A>G | CA423430203 | USH2A | c.9924T>C (p.Gly3308=)
| |
1 | g.215798941A>T | CA423430205 | USH2A | c.9924T>A (p.Gly3308=)
| |
1 | g.215798942C>A | CA344848381 | USH2A | c.9923G>T (p.Gly3308Val)
| |
1 | g.215798942C>G | CA344848386 | USH2A | c.9923G>C (p.Gly3308Ala)
| COSMIC |
1 | g.215798942C>T | CA344848390 | USH2A | c.9923G>A (p.Gly3308Asp)
| gnomAD v4 |
1 | g.215798943C>A | CA344848392 | USH2A | c.9922G>T (p.Gly3308Cys)
| |
1 | g.215798943C= | CA1220425981 | USH2A | c.9922G= (p.Gly3308=)
| |
1 | g.215798943C>G | CA344848397 | USH2A | c.9922G>C (p.Gly3308Arg)
| |
1 | g.215798943C>T | CA1394180 | USH2A | c.9922G>A (p.Gly3308Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215798944A= | CA1220425985 | USH2A | c.9921T= (p.Cys3307=)
| |
1 | g.215798944A>C | CA16044155 | USH2A | c.9921T>G (p.Cys3307Trp)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.215798944A>G | CA423430213 | USH2A | c.9921T>C (p.Cys3307=)
| |
1 | g.215798944A>T | CA344848408 | USH2A | c.9921T>A (p.Cys3307Ter)
| |
1 | g.215798945C>A | CA344848411 | USH2A | c.9920G>T (p.Cys3307Phe)
| ClinVar dbSNP |
1 | g.215798945C= | CA1220425988 | USH2A | c.9920G= (p.Cys3307=)
| |
1 | g.215798945C>G | CA344848419 | USH2A | c.9920G>C (p.Cys3307Ser)
| |
1 | g.215798945C>T | CA37448504 | USH2A | c.9920G>A (p.Cys3307Tyr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.215798946A= | CA1220425993 | USH2A | c.9919T= (p.Cys3307=)
| |
1 | g.215798946A>C | CA344848441 | USH2A | c.9919T>G (p.Cys3307Gly)
| |
1 | g.215798946A>G | CA344848426 | USH2A | c.9919T>C (p.Cys3307Arg)
| COSMIC |
1 | g.215798946A>T | CA344848434 | USH2A | c.9919T>A (p.Cys3307Ser)
| ClinVar dbSNP |
1 | g.215798947A>C | CA344848445 | USH2A | c.9918T>G (p.Cys3306Trp)
| |
1 | g.215798947A>G | CA423430217 | USH2A | c.9918T>C (p.Cys3306=)
| ClinVar gnomAD v4 |
1 | g.215798947A>T | CA344848448 | USH2A | c.9918T>A (p.Cys3306Ter)
| |
1 | g.215798948C>A | CA344848465 | USH2A | c.9917G>T (p.Cys3306Phe)
| |
1 | g.215798948C= | CA1220425994 | USH2A | c.9917G= (p.Cys3306=)
| |
1 | g.215798948C>G | CA344848468 | USH2A | c.9917G>C (p.Cys3306Ser)
| |
1 | g.215798948C>T | CA1394181 | USH2A | c.9917G>A (p.Cys3306Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215798949A>C | CA344848478 | USH2A | c.9916T>G (p.Cys3306Gly)
| |
1 | g.215798949A>G | CA344848486 | USH2A | c.9916T>C (p.Cys3306Arg)
| |
1 | g.215798949A>T | CA344848488 | USH2A | c.9916T>A (p.Cys3306Ser)
| |
1 | g.215798949_215798951delinsACT | CA1220425996 | USH2A | c.9914_9916delinsAGT (p.Glu3305=)
| |
1 | g.215798950C>A | CA344848495 | USH2A | c.9915G>T (p.Glu3305Asp)
| |
1 | g.215798950C= | CA1142044010 | USH2A | c.9915G= (p.Glu3305=)
| |
1 | g.215798950C>G | CA143674 | USH2A | c.9915G>C (p.Glu3305Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215798950C>T | CA423430224 | USH2A | c.9915G>A (p.Glu3305=)
| |
1 | g.215798952_215798953del | CA529002309 | USH2A | c.9914_9915del (p.Glu3305ValfsTer?)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.215798951T>A | CA344848505 | USH2A | c.9914A>T (p.Glu3305Val)
| |
1 | g.215798951T>C | CA344848509 | USH2A | c.9914A>G (p.Glu3305Gly)
| gnomAD v4 |
1 | g.215798951T>G | CA37448510 | USH2A | c.9914A>C (p.Glu3305Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215798951T= | CA1220425999 | USH2A | c.9914A= (p.Glu3305=)
| |
1 | g.215798952C>A | CA344848512 | USH2A | c.9913G>T (p.Glu3305Ter)
| gnomAD v4 |
1 | g.215798952C= | CA1220426001 | USH2A | c.9913G= (p.Glu3305=)
| |
1 | g.215798952C>G | CA1394183 | USH2A | c.9913G>C (p.Glu3305Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215798952C>T | CA344848521 | USH2A | c.9913G>A (p.Glu3305Lys)
| dbSNP gnomAD v4 |
1 | g.215798953T>A | CA344848530 | USH2A | c.9912A>T (p.Leu3304Phe)
| |
1 | g.215798953T>C | CA423430232 | USH2A | c.9912A>G (p.Leu3304=)
| ClinVar dbSNP gnomAD v4 |
1 | g.215798953T>G | CA344848533 | USH2A | c.9912A>C (p.Leu3304Phe)
| |
1 | g.215798953T= | CA1220426005 | USH2A | c.9912A= (p.Leu3304=)
| |
1 | g.215798953dup | CA1394182 | USH2A | c.9912dup (p.Glu3305ArgfsTer?)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215798954A>C | CA344848536 | USH2A | c.9911T>G (p.Leu3304Ter)
| ClinVar |
1 | g.215798954A>G | CA344848552 | USH2A | c.9911T>C (p.Leu3304Ser)
| |
1 | g.215798954A>T | CA344848550 | USH2A | c.9911T>A (p.Leu3304Ter)
| |
1 | g.215798955A>C | CA344848567 | USH2A | c.9910T>G (p.Leu3304Val)
| |
1 | g.215798955A>G | CA423430234 | USH2A | c.9910T>C (p.Leu3304=)
| |
1 | g.215798955A>T | CA344848571 | USH2A | c.9910T>A (p.Leu3304Ile)
| |
1 | g.215798956A>C | CA344848573 | USH2A | c.9909T>G (p.Asp3303Glu)
| |
1 | g.215798956A>G | CA423430235 | USH2A | c.9909T>C (p.Asp3303=)
| |
1 | g.215798956A>T | CA344848578 | USH2A | c.9909T>A (p.Asp3303Glu)
| |
1 | g.215798957T>A | CA344848591 | USH2A | c.9908A>T (p.Asp3303Val)
| |
1 | g.215798957T>C | CA344848588 | USH2A | c.9908A>G (p.Asp3303Gly)
| |
1 | g.215798957T>G | CA344848585 | USH2A | c.9908A>C (p.Asp3303Ala)
| |
1 | g.215798958C>A | CA344848597 | USH2A | c.9907G>T (p.Asp3303Tyr)
| |
1 | g.215798958C= | CA1220426011 | USH2A | c.9907G= (p.Asp3303=)
| |
1 | g.215798958C>G | CA344848601 | USH2A | c.9907G>C (p.Asp3303His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215798958C>T | CA344848605 | USH2A | c.9907G>A (p.Asp3303Asn)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.215798959G>A | CA1394184 | USH2A | c.9906C>T (p.Asn3302=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215798959G>C | CA344848618 | USH2A | c.9906C>G (p.Asn3302Lys)
| |
1 | g.215798959G= | CA1220426014 | USH2A | c.9906C= (p.Asn3302=)
| |
1 | g.215798959G>T | CA344848623 | USH2A | c.9906C>A (p.Asn3302Lys)
| |
1 | g.215798960T>A | CA344848636 | USH2A | c.9905A>T (p.Asn3302Ile)
| |
1 | g.215798960T>C | CA344848628 | USH2A | c.9905A>G (p.Asn3302Ser)
| |
1 | g.215798960T>G | CA344848633 | USH2A | c.9905A>C (p.Asn3302Thr)
| |
1 | g.215798961T>A | CA344848642 | USH2A | c.9904A>T (p.Asn3302Tyr)
| |
1 | g.215798961T>C | CA1394185 | USH2A | c.9904A>G (p.Asn3302Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215798961T>G | CA344848655 | USH2A | c.9904A>C (p.Asn3302His)
| |
1 | g.215798961T= | CA1145050973 | USH2A | c.9904A= (p.Asn3302=)
| |
1 | g.215798962G>A | CA423430239 | USH2A | c.9903C>T (p.Ser3301=)
| |
1 | g.215798962G>C | CA344848667 | USH2A | c.9903C>G (p.Ser3301Arg)
| gnomAD v4 |
1 | g.215798962G>T | CA344848668 | USH2A | c.9903C>A (p.Ser3301Arg)
| gnomAD v4 |
1 | g.215798963C>A | CA344848674 | USH2A | c.9902G>T (p.Ser3301Ile)
| |
1 | g.215798963C>G | CA344848679 | USH2A | c.9902G>C (p.Ser3301Thr)
| |
1 | g.215798963C>T | CA344848678 | USH2A | c.9902G>A (p.Ser3301Asn)
| |
1 | g.215798964T>A | CA344848691 | USH2A | c.9901A>T (p.Ser3301Cys)
| |
1 | g.215798964T>C | CA344848696 | USH2A | c.9901A>G (p.Ser3301Gly)
| |
1 | g.215798964T>G | CA344848698 | USH2A | c.9901A>C (p.Ser3301Arg)
| |
1 | g.215798965C>A | CA423430240 | USH2A | c.9900G>T (p.Val3300=)
| |
1 | g.215798965C>G | CA423430241 | USH2A | c.9900G>C (p.Val3300=)
| |
1 | g.215798965C>T | CA423430242 | USH2A | c.9900G>A (p.Val3300=)
| ClinVar dbSNP |
1 | g.215798967_215798968del | CA2650503219 | USH2A | c.9899_9900del (p.Val3300GlufsTer?)
| gnomAD v4 |
1 | g.215798966A>C | CA344848704 | USH2A | c.9899T>G (p.Val3300Gly)
| |
1 | g.215798966A>G | CA344848707 | USH2A | c.9899T>C (p.Val3300Ala)
| |
1 | g.215798966A>T | CA344848710 | USH2A | c.9899T>A (p.Val3300Glu)
| |
1 | g.215798967C>A | CA344848713 | USH2A | c.9898G>T (p.Val3300Leu)
| COSMIC COSMIC |
1 | g.215798967C= | CA1220426025 | USH2A | c.9898G= (p.Val3300=)
| |
1 | g.215798967C>G | CA344848715 | USH2A | c.9898G>C (p.Val3300Leu)
| |
1 | g.215798967C>T | CA344848718 | USH2A | c.9898G>A (p.Val3300Met)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215798968A= | CA1148255721 | USH2A | c.9897T= (p.Ile3299=)
| |
1 | g.215798968A>C | CA344848720 | USH2A | c.9897T>G (p.Ile3299Met)
| |
1 | g.215798968A>G | CA423430247 | USH2A | c.9897T>C (p.Ile3299=)
| ClinVar dbSNP gnomAD v4 |
1 | g.215798968A>T | CA1394186 | USH2A | c.9897T>A (p.Ile3299=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215798969A= | CA1220426031 | USH2A | c.9896T= (p.Ile3299=)
| |
1 | g.215798969A>C | CA344848739 | USH2A | c.9896T>G (p.Ile3299Ser)
| |
1 | g.215798969A>G | CA344848729 | USH2A | c.9896T>C (p.Ile3299Thr)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.215798969A>T | CA344848727 | USH2A | c.9896T>A (p.Ile3299Asn)
| |
1 | g.215798970T>A | CA344848742 | USH2A | c.9895A>T (p.Ile3299Phe)
| dbSNP gnomAD v4 |
1 | g.215798970T>C | CA344848748 | USH2A | c.9895A>G (p.Ile3299Val)
| dbSNP |
1 | g.215798970T>G | CA344848745 | USH2A | c.9895A>C (p.Ile3299Leu)
| |
1 | g.215798970T= | CA1220426035 | USH2A | c.9895A= (p.Ile3299=)
| |
1 | g.215798971_215798972del | CA2695199994 | USH2A | c.9894_9895del (p.Gln3298HisfsTer?)
| ClinVar |
1 | g.215798971C>A | CA344848750 | USH2A | c.9894G>T (p.Gln3298His)
| gnomAD v4 |
1 | g.215798971C>G | CA344848751 | USH2A | c.9894G>C (p.Gln3298His)
| |
1 | g.215798971C>T | CA423430251 | USH2A | c.9894G>A (p.Gln3298=)
| |