1 | g.215798845T>A | CA2747721863 | USH2A | c.9958+62A>T (n.9958+62A>T)
| |
1 | g.215798845T>C | CA1220425853 | USH2A | c.9958+62A>G (n.9958+62A>G)
| dbSNP gnomAD v4 |
1 | g.215798845T= | CA1220425854 | USH2A | c.9958+62A= (n.9958+62A=)
| |
1 | g.215798846T>A | CA2574000910 | USH2A | c.9958+61A>T (n.9958+61A>T)
| |
1 | g.215798846T>G | CA2747721864 | USH2A | c.9958+61A>C (n.9958+61A>C)
| |
1 | g.215798849T>C | CA1220425856 | USH2A | c.9958+58A>G (n.9958+58A>G)
| dbSNP |
1 | g.215798849T= | CA1220425855 | USH2A | c.9958+58A= (n.9958+58A=)
| |
1 | g.215798850C>T | CA2650503203 | USH2A | c.9958+57G>A (n.9958+57G>A)
| gnomAD v4 |
1 | g.215798851A= | CA1220425859 | USH2A | c.9958+56T= (n.9958+56T=)
| |
1 | g.215798851A>G | CA37448349 | USH2A | c.9958+56T>C (n.9958+56T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215798858_215798859dup | CA916402926 | USH2A | c.9958+54_9958+55dup (n.9958+54_9958+55dup)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.215798854C= | CA1220425864 | USH2A | c.9958+53G= (n.9958+53G=)
| |
1 | g.215798854C>G | CA1220425865 | USH2A | c.9958+53G>C (n.9958+53G>C)
| dbSNP gnomAD v4 |
1 | g.215798855T>A | CA2650503204 | USH2A | c.9958+52A>T (n.9958+52A>T)
| gnomAD v4 |
1 | g.215798856C= | CA1220425866 | USH2A | c.9958+51G= (n.9958+51G=)
| |
1 | g.215798856C>G | CA37448350 | USH2A | c.9958+51G>C (n.9958+51G>C)
| dbSNP |
1 | g.215798856C>T | CA2574000921 | USH2A | c.9958+51G>A (n.9958+51G>A)
| |
1 | g.215798857T>G | CA1394164 | USH2A | c.9958+50A>C (n.9958+50A>C)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.215798857T= | CA1220425868 | USH2A | c.9958+50A= (n.9958+50A=)
| |
1 | g.215798860G= | CA1148411540 | USH2A | c.9958+47C= (n.9958+47C=)
| |
1 | g.215798860G>T | CA1394165 | USH2A | c.9958+47C>A (n.9958+47C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215798861C>T | CA2650503205 | USH2A | c.9958+46G>A (n.9958+46G>A)
| gnomAD v4 |
1 | g.215798862T>G | CA2650503206 | USH2A | c.9958+45A>C (n.9958+45A>C)
| gnomAD v4 |
1 | g.215798862_215798863insC | CA2531981128 | USH2A | c.9958+44_9958+45insG (n.9958+44_9958+45insG)
| |
1 | g.215798864C>A | CA2747721865 | USH2A | c.9958+43G>T (n.9958+43G>T)
| |
1 | g.215798865T>A | CA529002301 | USH2A | c.9958+42A>T (n.9958+42A>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215798865T= | CA1220425870 | USH2A | c.9958+42A= (n.9958+42A=)
| |
1 | g.215798866C= | CA1220425875 | USH2A | c.9958+41G= (n.9958+41G=)
| |
1 | g.215798866C>G | CA1394166 | USH2A | c.9958+41G>C (n.9958+41G>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215798866C>T | CA529002302 | USH2A | c.9958+41G>A (n.9958+41G>A)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215798868G>T | CA2650503207 | USH2A | c.9958+39C>A (n.9958+39C>A)
| gnomAD v4 |
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)
| |