| 1 | g.215728238_215728248del | CA2695199986 | USH2A | c.11850_11860del (p.Glu3952ValfsTer?)
| ClinVar |
| 1 | g.215728245C>A | CA344828941 | USH2A | c.11851G>T (p.Val3951Leu)
| gnomAD v4 |
| 1 | g.215728245C= | CA1220396541 | USH2A | c.11851G= (p.Val3951=)
| |
| 1 | g.215728245C>G | CA344828949 | USH2A | c.11851G>C (p.Val3951Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728245C>T | CA37395395 | USH2A | c.11851G>A (p.Val3951Met)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215728249_215728271del | CA2573131554 | USH2A | c.11829_11851del (p.Arg3943SerfsTer?)
| ClinVar dbSNP |
| 1 | g.215728246T>A | CA423430075 | USH2A | c.11850A>T (p.Ser3950=)
| |
| 1 | g.215728246T>C | CA423430076 | USH2A | c.11850A>G (p.Ser3950=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215728246T>G | CA423430077 | USH2A | c.11850A>C (p.Ser3950=)
| |
| 1 | g.215728247G>A | CA344828953 | USH2A | c.11849C>T (p.Ser3950Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728247G>C | CA344828954 | USH2A | c.11849C>G (p.Ser3950Ter)
| |
| 1 | g.215728247G= | CA1220396542 | USH2A | c.11849C= (p.Ser3950=)
| |
| 1 | g.215728247G>T | CA344828957 | USH2A | c.11849C>A (p.Ser3950Ter)
| |
| 1 | g.215728248A>C | CA344828961 | USH2A | c.11848T>G (p.Ser3950Ala)
| |
| 1 | g.215728248A>G | CA344828964 | USH2A | c.11848T>C (p.Ser3950Pro)
| |
| 1 | g.215728248A>T | CA344828965 | USH2A | c.11848T>A (p.Ser3950Thr)
| |
| 1 | g.215728249A>C | CA423430080 | USH2A | c.11847T>G (p.Gly3949=)
| |
| 1 | g.215728249A>G | CA423430078 | USH2A | c.11847T>C (p.Gly3949=)
| |
| 1 | g.215728249A>T | CA423430079 | USH2A | c.11847T>A (p.Gly3949=)
| |
| 1 | g.215728250C>A | CA344828968 | USH2A | c.11846G>T (p.Gly3949Val)
| ClinVar |
| 1 | g.215728250C= | CA1220396543 | USH2A | c.11846G= (p.Gly3949=)
| |
| 1 | g.215728250C>G | CA344828970 | USH2A | c.11846G>C (p.Gly3949Ala)
| |
| 1 | g.215728250C>T | CA344828967 | USH2A | c.11846G>A (p.Gly3949Asp)
| dbSNP gnomAD v4 |
| 1 | g.215728251C>A | CA344828975 | USH2A | c.11845G>T (p.Gly3949Cys)
| |
| 1 | g.215728251C>G | CA344828978 | USH2A | c.11845G>C (p.Gly3949Arg)
| gnomAD v4 |
| 1 | g.215728251C>T | CA344828983 | USH2A | c.11845G>A (p.Gly3949Ser)
| |
| 1 | g.215728252C>A | CA344828986 | USH2A | c.11844G>T (p.Lys3948Asn)
| |
| 1 | g.215728252C>G | CA344828988 | USH2A | c.11844G>C (p.Lys3948Asn)
| |
| 1 | g.215728252C>T | CA423430081 | USH2A | c.11844G>A (p.Lys3948=)
| |
| 1 | g.215728253_215728368dup | CA2650501610 | USH2A | c.11729_11844dup (p.Gly3949LysfsTer23)
| gnomAD v4 |
| 1 | g.215728253T>A | CA344828992 | USH2A | c.11843A>T (p.Lys3948Met)
| |
| 1 | g.215728253T>C | CA344828990 | USH2A | c.11843A>G (p.Lys3948Arg)
| dbSNP gnomAD v4 |
| 1 | g.215728253T>G | CA344828991 | USH2A | c.11843A>C (p.Lys3948Thr)
| |
| 1 | g.215728253T= | CA1220396544 | USH2A | c.11843A= (p.Lys3948=)
| |
| 1 | g.215728254T>A | CA344828993 | USH2A | c.11842A>T (p.Lys3948Ter)
| |
| 1 | g.215728254T>C | CA344828994 | USH2A | c.11842A>G (p.Lys3948Glu)
| ClinVar dbSNP |
| 1 | g.215728254T>G | CA344828995 | USH2A | c.11842A>C (p.Lys3948Gln)
| |
| 1 | g.215728254T= | CA1220396545 | USH2A | c.11842A= (p.Lys3948=)
| |
| 1 | g.215728255G>A | CA423430083 | USH2A | c.11841C>T (p.Ser3947=)
| ClinVar |
| 1 | g.215728255G>C | CA423430082 | USH2A | c.11841C>G (p.Ser3947=)
| |
| 1 | g.215728255G>T | CA423430084 | USH2A | c.11841C>A (p.Ser3947=)
| |
| 1 | g.215728256dup | CA2586968146 | USH2A | c.11841dup (p.Lys3948GlnfsTer?)
| |
| 1 | g.215728256G>A | CA1393609 | USH2A | c.11840C>T (p.Ser3947Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.215728256G>C | CA344828997 | USH2A | c.11840C>G (p.Ser3947Cys)
| gnomAD v4 |
| 1 | g.215728256G= | CA1220396546 | USH2A | c.11840C= (p.Ser3947=)
| |
| 1 | g.215728256G>T | CA344828999 | USH2A | c.11840C>A (p.Ser3947Tyr)
| |
| 1 | g.215728257A>C | CA344829008 | USH2A | c.11839T>G (p.Ser3947Ala)
| |
| 1 | g.215728257A>G | CA344829006 | USH2A | c.11839T>C (p.Ser3947Pro)
| |
| 1 | g.215728257A>T | CA344829001 | USH2A | c.11839T>A (p.Ser3947Thr)
| |
| 1 | g.215728258G>A | CA423430085 | USH2A | c.11838C>T (p.Asn3946=)
| |
| 1 | g.215728258G>C | CA344829018 | USH2A | c.11838C>G (p.Asn3946Lys)
| |
| 1 | g.215728258G>T | CA344829014 | USH2A | c.11838C>A (p.Asn3946Lys)
| |
| 1 | g.215728259T>A | CA344829025 | USH2A | c.11837A>T (p.Asn3946Ile)
| |
| 1 | g.215728259T>C | CA344829019 | USH2A | c.11837A>G (p.Asn3946Ser)
| |
| 1 | g.215728259T>G | CA344829023 | USH2A | c.11837A>C (p.Asn3946Thr)
| |
| 1 | g.215728260T>A | CA344829026 | USH2A | c.11836A>T (p.Asn3946Tyr)
| |
| 1 | g.215728260T>C | CA344829027 | USH2A | c.11836A>G (p.Asn3946Asp)
| |
| 1 | g.215728260T>G | CA344829028 | USH2A | c.11836A>C (p.Asn3946His)
| |
| 1 | g.215728260T= | CA1220396547 | USH2A | c.11836A= (p.Asn3946=)
| |
| 1 | g.215728260_215728261insCTG | CA1393610 | USH2A | c.11835_11836insCAG (p.Cys3945_Asn3946insGln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728260_215728261insCTGA | CA1220396549 | USH2A | c.11835_11836insTCAG (p.Asn3946SerfsTer?)
| dbSNP |
| 1 | g.215728261A= | CA1220396548 | USH2A | c.11835T= (p.Cys3945=)
| |
| 1 | g.215728261A>C | CA344829030 | USH2A | c.11835T>G (p.Cys3945Trp)
| dbSNP |
| 1 | g.215728261A>G | CA423430086 | USH2A | c.11835T>C (p.Cys3945=)
| |
| 1 | g.215728261A>T | CA344829043 | USH2A | c.11835T>A (p.Cys3945Ter)
| |
| 1 | g.215728261_215728263delinsCTGACCC | CA2695199987 | USH2A | c.11833_11835delinsGGGTCAG (p.Cys3945GlyfsTer?)
| ClinVar |
| 1 | g.215728262C>A | CA344829054 | USH2A | c.11834G>T (p.Cys3945Phe)
| |
| 1 | g.215728262C>G | CA344829055 | USH2A | c.11834G>C (p.Cys3945Ser)
| |
| 1 | g.215728262C>T | CA344829058 | USH2A | c.11834G>A (p.Cys3945Tyr)
| ClinVar |
| 1 | g.215728262dup | CA1393611 | USH2A | c.11834dup (p.Cys3945TrpfsTer2)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728263A= | CA1220396550 | USH2A | c.11833T= (p.Cys3945=)
| |
| 1 | g.215728263A>C | CA1393612 | USH2A | c.11833T>G (p.Cys3945Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728263A>G | CA344829060 | USH2A | c.11833T>C (p.Cys3945Arg)
| |
| 1 | g.215728263A>T | CA344829059 | USH2A | c.11833T>A (p.Cys3945Ser)
| |
| 1 | g.215728264G>A | CA423430087 | USH2A | c.11832C>T (p.Ala3944=)
| ClinVar dbSNP |
| 1 | g.215728264G>C | CA423430088 | USH2A | c.11832C>G (p.Ala3944=)
| |
| 1 | g.215728264G>T | CA423430089 | USH2A | c.11832C>A (p.Ala3944=)
| |
| 1 | g.215728265G>A | CA344829061 | USH2A | c.11831C>T (p.Ala3944Val)
| gnomAD v4 |
| 1 | g.215728265G>C | CA344829063 | USH2A | c.11831C>G (p.Ala3944Gly)
| |
| 1 | g.215728265G= | CA1220396551 | USH2A | c.11831C= (p.Ala3944=)
| |
| 1 | g.215728265G>T | CA344829065 | USH2A | c.11831C>A (p.Ala3944Asp)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728266C>A | CA344829067 | USH2A | c.11830G>T (p.Ala3944Ser)
| |
| 1 | g.215728266C>G | CA344829069 | USH2A | c.11830G>C (p.Ala3944Pro)
| gnomAD v4 |
| 1 | g.215728266C>T | CA344829071 | USH2A | c.11830G>A (p.Ala3944Thr)
| |
| 1 | g.215728267T>A | CA344829074 | USH2A | c.11829A>T (p.Arg3943Ser)
| |
| 1 | g.215728267T>C | CA423430090 | USH2A | c.11829A>G (p.Arg3943=)
| |
| 1 | g.215728267T>G | CA344829076 | USH2A | c.11829A>C (p.Arg3943Ser)
| |
| 1 | g.215728268C>A | CA344829080 | USH2A | c.11828G>T (p.Arg3943Ile)
| |
| 1 | g.215728268C= | CA1220396552 | USH2A | c.11828G= (p.Arg3943=)
| |
| 1 | g.215728268C>G | CA344829082 | USH2A | c.11828G>C (p.Arg3943Thr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728268C>T | CA344829086 | USH2A | c.11828G>A (p.Arg3943Lys)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728269T>A | CA344829087 | USH2A | c.11827A>T (p.Arg3943Ter)
| |
| 1 | g.215728269T>C | CA344829088 | USH2A | c.11827A>G (p.Arg3943Gly)
| |
| 1 | g.215728269T>G | CA423430091 | USH2A | c.11827A>C (p.Arg3943=)
| |
| 1 | g.215728270G>A | CA423430093 | USH2A | c.11826C>T (p.Val3942=)
| |
| 1 | g.215728270G>C | CA423430092 | USH2A | c.11826C>G (p.Val3942=)
| |
| 1 | g.215728270G= | CA1143999664 | USH2A | c.11826C= (p.Val3942=)
| |
| 1 | g.215728270G>T | CA1393613 | USH2A | c.11826C>A (p.Val3942=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728271A= | CA1220396553 | USH2A | c.11825T= (p.Val3942=)
| |
| 1 | g.215728271A>C | CA344829094 | USH2A | c.11825T>G (p.Val3942Gly)
| |
| 1 | g.215728271A>G | CA344829089 | USH2A | c.11825T>C (p.Val3942Ala)
| |
| 1 | g.215728271A>T | CA344829091 | USH2A | c.11825T>A (p.Val3942Asp)
| |
| 1 | g.215728272C>A | CA344829099 | USH2A | c.11824G>T (p.Val3942Phe)
| |
| 1 | g.215728272C= | CA1220396554 | USH2A | c.11824G= (p.Val3942=)
| |
| 1 | g.215728272C>G | CA344829101 | USH2A | c.11824G>C (p.Val3942Leu)
| dbSNP gnomAD v4 |
| 1 | g.215728272C>T | CA344829106 | USH2A | c.11824G>A (p.Val3942Ile)
| ClinVar dbSNP |
| 1 | g.215728274dup | CA916082120 | USH2A | c.11824dup (p.Val3942GlyfsTer5)
| ClinVar dbSNP |
| 1 | g.215728274del | CA2580062171 | USH2A | c.11824del (p.Val3942SerfsTer16)
| ClinVar |
| 1 | g.215728273C>A | CA423430094 | USH2A | c.11823G>T (p.Arg3941=)
| |
| 1 | g.215728273C= | CA1220396555 | USH2A | c.11823G= (p.Arg3941=)
| |
| 1 | g.215728273C>G | CA423430095 | USH2A | c.11823G>C (p.Arg3941=)
| |
| 1 | g.215728273C>T | CA423430096 | USH2A | c.11823G>A (p.Arg3941=)
| |
| 1 | g.215728274C>A | CA344829109 | USH2A | c.11822G>T (p.Arg3941Leu)
| dbSNP |
| 1 | g.215728274C= | CA1148224968 | USH2A | c.11822G= (p.Arg3941=)
| |
| 1 | g.215728274C>G | CA344829113 | USH2A | c.11822G>C (p.Arg3941Pro)
| |
| 1 | g.215728274C>T | CA183417 | USH2A | c.11822G>A (p.Arg3941Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728276_215728282dup | CA1139656580 | USH2A | c.11816_11822dup (p.Val3942IlefsTer7)
| ClinVar dbSNP |
| 1 | g.215728275G>A | CA1393614 | USH2A | c.11821C>T (p.Arg3941Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.215728275G>C | CA344829133 | USH2A | c.11821C>G (p.Arg3941Gly)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728275G= | CA1149155713 | USH2A | c.11821C= (p.Arg3941=)
| |
| 1 | g.215728275G>T | CA37395450 | USH2A | c.11821C>A (p.Arg3941=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215728276A>C | CA344829138 | USH2A | c.11820T>G (p.Tyr3940Ter)
| |
| 1 | g.215728276A>G | CA423430097 | USH2A | c.11820T>C (p.Tyr3940=)
| |
| 1 | g.215728276A>T | CA344829141 | USH2A | c.11820T>A (p.Tyr3940Ter)
| |
| 1 | g.215728277T>A | CA344829151 | USH2A | c.11819A>T (p.Tyr3940Phe)
| gnomAD v4 |
| 1 | g.215728277T>C | CA344829154 | USH2A | c.11819A>G (p.Tyr3940Cys)
| |
| 1 | g.215728277T>G | CA344829145 | USH2A | c.11819A>C (p.Tyr3940Ser)
| |
| 1 | g.215728278A>C | CA344829160 | USH2A | c.11818T>G (p.Tyr3940Asp)
| |
| 1 | g.215728278A>G | CA344829166 | USH2A | c.11818T>C (p.Tyr3940His)
| COSMIC |
| 1 | g.215728278A>T | CA344829171 | USH2A | c.11818T>A (p.Tyr3940Asn)
| |
| 1 | g.215728279T>A | CA344829173 | USH2A | c.11817A>T (p.Glu3939Asp)
| |
| 1 | g.215728279T>C | CA423430098 | USH2A | c.11817A>G (p.Glu3939=)
| gnomAD v4 |
| 1 | g.215728279T>G | CA344829176 | USH2A | c.11817A>C (p.Glu3939Asp)
| |
| 1 | g.215728280dup | CA913072762 | USH2A | c.11817dup (p.Tyr3940IlefsTer7)
| |
| 1 | g.215728279_215728281dup | CA2499214463 | USH2A | c.11815_11817dup (p.Glu3939_Tyr3940insGlu)
| ClinVar dbSNP |
| 1 | g.215728280T>A | CA344829191 | USH2A | c.11816A>T (p.Glu3939Val)
| |
| 1 | g.215728280T>C | CA344829186 | USH2A | c.11816A>G (p.Glu3939Gly)
| gnomAD v4 |
| 1 | g.215728280T>G | CA344829190 | USH2A | c.11816A>C (p.Glu3939Ala)
| |
| 1 | g.215728280T= | CA1220396556 | USH2A | c.11816A= (p.Glu3939=)
| |
| 1 | g.215728280_215728281dup | CA2499214464 | USH2A | c.11815_11816dup (p.Tyr3940AsnfsTer19)
| ClinVar dbSNP |
| 1 | g.215728281C>A | CA344829192 | USH2A | c.11815G>T (p.Glu3939Ter)
| gnomAD v4 |
| 1 | g.215728281C= | CA1142105223 | USH2A | c.11815G= (p.Glu3939=)
| |
| 1 | g.215728281C>G | CA344829193 | USH2A | c.11815G>C (p.Glu3939Gln)
| |
| 1 | g.215728281C>T | CA182588 | USH2A | c.11815G>A (p.Glu3939Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215728281dup | CA658821850 | USH2A | c.11815dup (p.Glu3939GlyfsTer8)
| ClinVar dbSNP |
| 1 | g.215728282G>A | CA1393615 | USH2A | c.11814C>T (p.Tyr3938=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.215728282G>C | CA344829197 | USH2A | c.11814C>G (p.Tyr3938Ter)
| |
| 1 | g.215728282G= | CA1220396557 | USH2A | c.11814C= (p.Tyr3938=)
| |
| 1 | g.215728282G>T | CA344829205 | USH2A | c.11814C>A (p.Tyr3938Ter)
| |
| 1 | g.215728283T>A | CA344829213 | USH2A | c.11813A>T (p.Tyr3938Phe)
| |
| 1 | g.215728283T>C | CA344829216 | USH2A | c.11813A>G (p.Tyr3938Cys)
| ClinVar |
| 1 | g.215728283T>G | CA344829210 | USH2A | c.11813A>C (p.Tyr3938Ser)
| |
| 1 | g.215728283_215728285delinsTAG | CA1220396558 | USH2A | c.11811_11813delinsCTA (p.Leu3937=)
| |
| 1 | g.215728284A= | CA1220396559 | USH2A | c.11812T= (p.Tyr3938=)
| |
| 1 | g.215728284A>C | CA344829230 | USH2A | c.11812T>G (p.Tyr3938Asp)
| |
| 1 | g.215728284A>G | CA1393616 | USH2A | c.11812T>C (p.Tyr3938His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728284A>T | CA344829233 | USH2A | c.11812T>A (p.Tyr3938Asn)
| |
| 1 | g.215728286_215728287del | CA731342103 | USH2A | c.11811_11812del (p.Tyr3938ArgfsTer8)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215728285G>A | CA423430099 | USH2A | c.11811C>T (p.Leu3937=)
| |
| 1 | g.215728285G>C | CA423430100 | USH2A | c.11811C>G (p.Leu3937=)
| |
| 1 | g.215728285G>T | CA423430101 | USH2A | c.11811C>A (p.Leu3937=)
| |
| 1 | g.215728286A>C | CA344829244 | USH2A | c.11810T>G (p.Leu3937Arg)
| |
| 1 | g.215728286A>G | CA344829247 | USH2A | c.11810T>C (p.Leu3937Pro)
| |
| 1 | g.215728286A>T | CA344829251 | USH2A | c.11810T>A (p.Leu3937His)
| |
| 1 | g.215728287G>A | CA344829253 | USH2A | c.11809C>T (p.Leu3937Phe)
| gnomAD v4 |
| 1 | g.215728287G>C | CA344829256 | USH2A | c.11809C>G (p.Leu3937Val)
| |
| 1 | g.215728287G>T | CA344829260 | USH2A | c.11809C>A (p.Leu3937Ile)
| |
| 1 | g.215728288T>A | CA423430102 | USH2A | c.11808A>T (p.Thr3936=)
| |
| 1 | g.215728288T>C | CA423430103 | USH2A | c.11808A>G (p.Thr3936=)
| |
| 1 | g.215728288T>G | CA423430104 | USH2A | c.11808A>C (p.Thr3936=)
| |
| 1 | g.215728289G>A | CA1393617 | USH2A | c.11807C>T (p.Thr3936Ile)
| dbSNP ExAC gnomAD v2 |
| 1 | g.215728289G>C | CA344829265 | USH2A | c.11807C>G (p.Thr3936Arg)
| |
| 1 | g.215728289G= | CA1220396560 | USH2A | c.11807C= (p.Thr3936=)
| |
| 1 | g.215728289G>T | CA344829275 | USH2A | c.11807C>A (p.Thr3936Lys)
| |
| 1 | g.215728290T>A | CA344829282 | USH2A | c.11806A>T (p.Thr3936Ser)
| |
| 1 | g.215728290T>C | CA344829286 | USH2A | c.11806A>G (p.Thr3936Ala)
| |
| 1 | g.215728290T>G | CA344829290 | USH2A | c.11806A>C (p.Thr3936Pro)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215728291G>A | CA423430105 | USH2A | c.11805C>T (p.Phe3935=)
| |
| 1 | g.215728291G>C | CA344829301 | USH2A | c.11805C>G (p.Phe3935Leu)
| |
| 1 | g.215728291G= | CA1220396561 | USH2A | c.11805C= (p.Phe3935=)
| |
| 1 | g.215728291G>T | CA1393618 | USH2A | c.11805C>A (p.Phe3935Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728292A>C | CA344829309 | USH2A | c.11804T>G (p.Phe3935Cys)
| |
| 1 | g.215728292A>G | CA344829314 | USH2A | c.11804T>C (p.Phe3935Ser)
| |
| 1 | g.215728292A>T | CA344829312 | USH2A | c.11804T>A (p.Phe3935Tyr)
| |
| 1 | g.215728293A= | CA1220396562 | USH2A | c.11803T= (p.Phe3935=)
| |
| 1 | g.215728293A>C | CA344829317 | USH2A | c.11803T>G (p.Phe3935Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728293A>G | CA344829323 | USH2A | c.11803T>C (p.Phe3935Leu)
| |
| 1 | g.215728293A>T | CA344829330 | USH2A | c.11803T>A (p.Phe3935Ile)
| |
| 1 | g.215728294A>C | CA423430106 | USH2A | c.11802T>G (p.Pro3934=)
| |
| 1 | g.215728294A>G | CA423430107 | USH2A | c.11802T>C (p.Pro3934=)
| |
| 1 | g.215728294A>T | CA423430108 | USH2A | c.11802T>A (p.Pro3934=)
| |
| 1 | g.215728295G>A | CA344829332 | USH2A | c.11801C>T (p.Pro3934Leu)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215728295G>C | CA344829334 | USH2A | c.11801C>G (p.Pro3934Arg)
| |
| 1 | g.215728295G>T | CA344829337 | USH2A | c.11801C>A (p.Pro3934His)
| |
| 1 | g.215728296G>A | CA344829338 | USH2A | c.11800C>T (p.Pro3934Ser)
| COSMIC |
| 1 | g.215728296G>C | CA344829339 | USH2A | c.11800C>G (p.Pro3934Ala)
| |
| 1 | g.215728296G>T | CA344829340 | USH2A | c.11800C>A (p.Pro3934Thr)
| |
| 1 | g.215728297C>A | CA344829341 | USH2A | c.11799G>T (p.Arg3933Ser)
| |
| 1 | g.215728297C>G | CA344829342 | USH2A | c.11799G>C (p.Arg3933Ser)
| |
| 1 | g.215728297C>T | CA423430109 | USH2A | c.11799G>A (p.Arg3933=)
| |
| 1 | g.215728300_215728312del | CA2695199988 | USH2A | c.11787_11799del (p.Asp3930LeufsTer24)
| ClinVar |
| 1 | g.215728298C>A | CA344829343 | USH2A | c.11798G>T (p.Arg3933Met)
| |
| 1 | g.215728298C= | CA1220396563 | USH2A | c.11798G= (p.Arg3933=)
| |
| 1 | g.215728298C>G | CA344829354 | USH2A | c.11798G>C (p.Arg3933Thr)
| |
| 1 | g.215728298C>T | CA344829346 | USH2A | c.11798G>A (p.Arg3933Lys)
| dbSNP |
| 1 | g.215728299T>A | CA344829355 | USH2A | c.11797A>T (p.Arg3933Trp)
| |
| 1 | g.215728299T>C | CA344829363 | USH2A | c.11797A>G (p.Arg3933Gly)
| |
| 1 | g.215728299T>G | CA423430110 | USH2A | c.11797A>C (p.Arg3933=)
| |
| 1 | g.215728300C>A | CA423430111 | USH2A | c.11796G>T (p.Leu3932=)
| |
| 1 | g.215728300C= | CA1220396564 | USH2A | c.11796G= (p.Leu3932=)
| |
| 1 | g.215728300C>G | CA423430112 | USH2A | c.11796G>C (p.Leu3932=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728300C>T | CA423430113 | USH2A | c.11796G>A (p.Leu3932=)
| |
| 1 | g.215728301A>C | CA344829365 | USH2A | c.11795T>G (p.Leu3932Arg)
| |
| 1 | g.215728301A>G | CA344829371 | USH2A | c.11795T>C (p.Leu3932Pro)
| |
| 1 | g.215728301A>T | CA344829372 | USH2A | c.11795T>A (p.Leu3932Gln)
| |
| 1 | g.215728302G>A | CA143269 | USH2A | c.11794C>T (p.Leu3932=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728302G>C | CA344829373 | USH2A | c.11794C>G (p.Leu3932Val)
| |
| 1 | g.215728302G= | CA1141189291 | USH2A | c.11794C= (p.Leu3932=)
| |
| 1 | g.215728302G>T | CA344829377 | USH2A | c.11794C>A (p.Leu3932Met)
| |
| 1 | g.215728303G>A | CA423430114 | USH2A | c.11793C>T (p.Thr3931=)
| ClinVar dbSNP |
| 1 | g.215728303G>C | CA423430115 | USH2A | c.11793C>G (p.Thr3931=)
| ClinVar |
| 1 | g.215728303G>T | CA423430116 | USH2A | c.11793C>A (p.Thr3931=)
| |
| 1 | g.215728304G>A | CA1393619 | USH2A | c.11792C>T (p.Thr3931Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728304G>C | CA344829382 | USH2A | c.11792C>G (p.Thr3931Ser)
| |
| 1 | g.215728304G= | CA1220396565 | USH2A | c.11792C= (p.Thr3931=)
| |
| 1 | g.215728304G>T | CA344829388 | USH2A | c.11792C>A (p.Thr3931Asn)
| |
| 1 | g.215728305T>A | CA344829398 | USH2A | c.11791A>T (p.Thr3931Ser)
| |
| 1 | g.215728305T>C | CA344829397 | USH2A | c.11791A>G (p.Thr3931Ala)
| COSMIC COSMIC |
| 1 | g.215728305T>G | CA344829389 | USH2A | c.11791A>C (p.Thr3931Pro)
| |
| 1 | g.215728306G>A | CA1393620 | USH2A | c.11790C>T (p.Asp3930=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728306G>C | CA344829402 | USH2A | c.11790C>G (p.Asp3930Glu)
| |
| 1 | g.215728306G= | CA1220396566 | USH2A | c.11790C= (p.Asp3930=)
| |
| 1 | g.215728306G>T | CA344829403 | USH2A | c.11790C>A (p.Asp3930Glu)
| |
| 1 | g.215728307T>A | CA344829404 | USH2A | c.11789A>T (p.Asp3930Val)
| dbSNP |
| 1 | g.215728307T>C | CA344829405 | USH2A | c.11789A>G (p.Asp3930Gly)
| |
| 1 | g.215728307T>G | CA344829406 | USH2A | c.11789A>C (p.Asp3930Ala)
| |
| 1 | g.215728307T= | CA1220396567 | USH2A | c.11789A= (p.Asp3930=)
| |
| 1 | g.215728309_215728334del | CA2586968151 | USH2A | c.11764_11789del (p.Ala3922HisfsTer16)
| |
| 1 | g.215728308C>A | CA344829408 | USH2A | c.11788G>T (p.Asp3930Tyr)
| |
| 1 | g.215728308C>G | CA344829411 | USH2A | c.11788G>C (p.Asp3930His)
| |
| 1 | g.215728308C>T | CA344829412 | USH2A | c.11788G>A (p.Asp3930Asn)
| |
| 1 | g.215728309T>A | CA423430117 | USH2A | c.11787A>T (p.Gly3929=)
| |
| 1 | g.215728309T>C | CA423430118 | USH2A | c.11787A>G (p.Gly3929=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215728309T>G | CA423430119 | USH2A | c.11787A>C (p.Gly3929=)
| |
| 1 | g.215728309T= | CA1220396568 | USH2A | c.11787A= (p.Gly3929=)
| |
| 1 | g.215728310C>A | CA344829414 | USH2A | c.11786G>T (p.Gly3929Val)
| |
| 1 | g.215728310C= | CA1220396569 | USH2A | c.11786G= (p.Gly3929=)
| |
| 1 | g.215728310C>G | CA344829416 | USH2A | c.11786G>C (p.Gly3929Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728310C>T | CA344829417 | USH2A | c.11786G>A (p.Gly3929Glu)
| |
| 1 | g.215728310_215728313delinsCCTT | CA1220396570 | USH2A | c.11783_11786delinsAAGG (p.Glu3928=)
| |
| 1 | g.215728311C>A | CA344829422 | USH2A | c.11785G>T (p.Gly3929Ter)
| |
| 1 | g.215728311C>G | CA344829425 | USH2A | c.11785G>C (p.Gly3929Arg)
| |
| 1 | g.215728311C>T | CA344829421 | USH2A | c.11785G>A (p.Gly3929Arg)
| |
| 1 | g.215728312_215728314del | CA1220396571 | USH2A | c.11783_11785del (p.Glu3928del)
| dbSNP |
| 1 | g.215728312T>A | CA344829429 | USH2A | c.11784A>T (p.Glu3928Asp)
| ClinVar dbSNP |
| 1 | g.215728312T>C | CA423430120 | USH2A | c.11784A>G (p.Glu3928=)
| gnomAD v4 |
| 1 | g.215728312T>G | CA344829431 | USH2A | c.11784A>C (p.Glu3928Asp)
| |
| 1 | g.215728312T= | CA1220396572 | USH2A | c.11784A= (p.Glu3928=)
| |
| 1 | g.215728313T>A | CA344829434 | USH2A | c.11783A>T (p.Glu3928Val)
| |
| 1 | g.215728313T>C | CA344829437 | USH2A | c.11783A>G (p.Glu3928Gly)
| |
| 1 | g.215728313T>G | CA344829441 | USH2A | c.11783A>C (p.Glu3928Ala)
| |
| 1 | g.215728314C>A | CA344829446 | USH2A | c.11782G>T (p.Glu3928Ter)
| |
| 1 | g.215728314C>G | CA344829448 | USH2A | c.11782G>C (p.Glu3928Gln)
| |
| 1 | g.215728314C>T | CA344829453 | USH2A | c.11782G>A (p.Glu3928Lys)
| COSMIC COSMIC |
| 1 | g.215728315A>C | CA344829456 | USH2A | c.11781T>G (p.Asp3927Glu)
| |
| 1 | g.215728315A>G | CA423430121 | USH2A | c.11781T>C (p.Asp3927=)
| |
| 1 | g.215728315A>T | CA344829464 | USH2A | c.11781T>A (p.Asp3927Glu)
| gnomAD v4 |
| 1 | g.215728316T>A | CA344829467 | USH2A | c.11780A>T (p.Asp3927Val)
| |
| 1 | g.215728316T>C | CA344829469 | USH2A | c.11780A>G (p.Asp3927Gly)
| |
| 1 | g.215728316T>G | CA344829472 | USH2A | c.11780A>C (p.Asp3927Ala)
| |
| 1 | g.215728317C>A | CA344829480 | USH2A | c.11779G>T (p.Asp3927Tyr)
| |
| 1 | g.215728317C>G | CA344829476 | USH2A | c.11779G>C (p.Asp3927His)
| |
| 1 | g.215728317C>T | CA344829475 | USH2A | c.11779G>A (p.Asp3927Asn)
| |
| 1 | g.215728318C>A | CA344829484 | USH2A | c.11778G>T (p.Met3926Ile)
| |
| 1 | g.215728318C>G | CA344829486 | USH2A | c.11778G>C (p.Met3926Ile)
| |
| 1 | g.215728318C>T | CA344829488 | USH2A | c.11778G>A (p.Met3926Ile)
| |
| 1 | g.215728319A>C | CA344829490 | USH2A | c.11777T>G (p.Met3926Arg)
| |
| 1 | g.215728319A>G | CA344829491 | USH2A | c.11777T>C (p.Met3926Thr)
| dbSNP gnomAD v4 |
| 1 | g.215728319A>T | CA344829495 | USH2A | c.11777T>A (p.Met3926Lys)
| gnomAD v4 |
| 1 | g.215728320T>A | CA344829503 | USH2A | c.11776A>T (p.Met3926Leu)
| |
| 1 | g.215728320T>C | CA344829507 | USH2A | c.11776A>G (p.Met3926Val)
| |
| 1 | g.215728320T>G | CA344829509 | USH2A | c.11776A>C (p.Met3926Leu)
| |
| 1 | g.215728321A= | CA1220396573 | USH2A | c.11775T= (p.Phe3925=)
| |
| 1 | g.215728321A>C | CA344829511 | USH2A | c.11775T>G (p.Phe3925Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728321A>G | CA423430122 | USH2A | c.11775T>C (p.Phe3925=)
| |
| 1 | g.215728321A>T | CA344829513 | USH2A | c.11775T>A (p.Phe3925Leu)
| |
| 1 | g.215728322A= | CA1220396574 | USH2A | c.11774T= (p.Phe3925=)
| |
| 1 | g.215728322A>C | CA344829516 | USH2A | c.11774T>G (p.Phe3925Cys)
| |
| 1 | g.215728322A>G | CA344829519 | USH2A | c.11774T>C (p.Phe3925Ser)
| |
| 1 | g.215728322A>T | CA37395551 | USH2A | c.11774T>A (p.Phe3925Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728323A>C | CA344829524 | USH2A | c.11773T>G (p.Phe3925Val)
| |
| 1 | g.215728323A>G | CA344829526 | USH2A | c.11773T>C (p.Phe3925Leu)
| |
| 1 | g.215728323A>T | CA344829523 | USH2A | c.11773T>A (p.Phe3925Ile)
| |
| 1 | g.215728324T>A | CA344829528 | USH2A | c.11772A>T (p.Glu3924Asp)
| |
| 1 | g.215728324T>C | CA423430123 | USH2A | c.11772A>G (p.Glu3924=)
| |
| 1 | g.215728324T>G | CA344829529 | USH2A | c.11772A>C (p.Glu3924Asp)
| |
| 1 | g.215728325T>A | CA344829530 | USH2A | c.11771A>T (p.Glu3924Val)
| |
| 1 | g.215728325T>C | CA344829533 | USH2A | c.11771A>G (p.Glu3924Gly)
| |
| 1 | g.215728325T>G | CA344829538 | USH2A | c.11771A>C (p.Glu3924Ala)
| |
| 1 | g.215728326C>A | CA344829550 | USH2A | c.11770G>T (p.Glu3924Ter)
| ClinVar |
| 1 | g.215728326C= | CA1220396575 | USH2A | c.11770G= (p.Glu3924=)
| |
| 1 | g.215728326C>G | CA344829548 | USH2A | c.11770G>C (p.Glu3924Gln)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728326C>T | CA344829541 | USH2A | c.11770G>A (p.Glu3924Lys)
| COSMIC COSMIC |
| 1 | g.215728327A>C | CA423430124 | USH2A | c.11769T>G (p.Leu3923=)
| |
| 1 | g.215728327A>G | CA423430125 | USH2A | c.11769T>C (p.Leu3923=)
| |
| 1 | g.215728327A>T | CA423430126 | USH2A | c.11769T>A (p.Leu3923=)
| |
| 1 | g.215728328A>C | CA344829551 | USH2A | c.11768T>G (p.Leu3923Arg)
| |
| 1 | g.215728328A>G | CA344829558 | USH2A | c.11768T>C (p.Leu3923Pro)
| |
| 1 | g.215728328A>T | CA344829559 | USH2A | c.11768T>A (p.Leu3923His)
| |
| 1 | g.215728329G>A | CA344829563 | USH2A | c.11767C>T (p.Leu3923Phe)
| |
| 1 | g.215728329G>C | CA344829565 | USH2A | c.11767C>G (p.Leu3923Val)
| |
| 1 | g.215728329G>T | CA344829568 | USH2A | c.11767C>A (p.Leu3923Ile)
| |
| 1 | g.215728330G>A | CA423430127 | USH2A | c.11766C>T (p.Ala3922=)
| ClinVar gnomAD v4 |
| 1 | g.215728330G>C | CA423430128 | USH2A | c.11766C>G (p.Ala3922=)
| |
| 1 | g.215728330G>T | CA423430129 | USH2A | c.11766C>A (p.Ala3922=)
| ClinVar dbSNP |
| 1 | g.215728331G>A | CA344829575 | USH2A | c.11765C>T (p.Ala3922Val)
| |
| 1 | g.215728331G>C | CA344829580 | USH2A | c.11765C>G (p.Ala3922Gly)
| |
| 1 | g.215728331G>T | CA344829577 | USH2A | c.11765C>A (p.Ala3922Asp)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215728332C>A | CA1393621 | USH2A | c.11764G>T (p.Ala3922Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728332C= | CA1148275560 | USH2A | c.11764G= (p.Ala3922=)
| |
| 1 | g.215728332C>G | CA344829581 | USH2A | c.11764G>C (p.Ala3922Pro)
| |
| 1 | g.215728332C>T | CA1393622 | USH2A | c.11764G>A (p.Ala3922Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728333T>A | CA423430130 | USH2A | c.11763A>T (p.Gly3921=)
| |
| 1 | g.215728333T>C | CA423430131 | USH2A | c.11763A>G (p.Gly3921=)
| dbSNP gnomAD v4 |
| 1 | g.215728333T>G | CA423430132 | USH2A | c.11763A>C (p.Gly3921=)
| |
| 1 | g.215728333T= | CA1220396576 | USH2A | c.11763A= (p.Gly3921=)
| |
| 1 | g.215728335_215728338del | CA2650501677 | USH2A | c.11760_11763del (p.Gly3921ProfsTer11)
| gnomAD v4 |
| 1 | g.215728334C>A | CA344829582 | USH2A | c.11762G>T (p.Gly3921Val)
| |
| 1 | g.215728334C= | CA1220396577 | USH2A | c.11762G= (p.Gly3921=)
| |
| 1 | g.215728334C>G | CA344829584 | USH2A | c.11762G>C (p.Gly3921Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728334C>T | CA344829590 | USH2A | c.11762G>A (p.Gly3921Glu)
| ClinVar gnomAD v4 |
| 1 | g.215728334_215728335insAGTGGAGAGTCTGTGGTCATTAACA | CA2552179869 | USH2A | c.11761_11762insTGTTAATGACCACAGACTCTCCACT (p.Gly3921ValfsTer12)
| |
| 1 | g.215728335C>A | CA344829593 | USH2A | c.11761G>T (p.Gly3921Ter)
| |
| 1 | g.215728335C>G | CA344829596 | USH2A | c.11761G>C (p.Gly3921Arg)
| |
| 1 | g.215728335C>T | CA344829598 | USH2A | c.11761G>A (p.Gly3921Arg)
| |
| 1 | g.215728336T>A | CA344829600 | USH2A | c.11760A>T (p.Glu3920Asp)
| |
| 1 | g.215728336T>C | CA423430133 | USH2A | c.11760A>G (p.Glu3920=)
| |
| 1 | g.215728336T>G | CA344829613 | USH2A | c.11760A>C (p.Glu3920Asp)
| |
| 1 | g.215728337T>A | CA344829619 | USH2A | c.11759A>T (p.Glu3920Val)
| |
| 1 | g.215728337T>C | CA344829620 | USH2A | c.11759A>G (p.Glu3920Gly)
| |
| 1 | g.215728337T>G | CA344829618 | USH2A | c.11759A>C (p.Glu3920Ala)
| |
| 1 | g.215728338C>A | CA344829622 | USH2A | c.11758G>T (p.Glu3920Ter)
| |
| 1 | g.215728338C>G | CA344829621 | USH2A | c.11758G>C (p.Glu3920Gln)
| |
| 1 | g.215728338C>T | CA344829623 | USH2A | c.11758G>A (p.Glu3920Lys)
| |
| 1 | g.215728339T>A | CA1393623 | USH2A | c.11757A>T (p.Ser3919=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728339T>C | CA423430138 | USH2A | c.11757A>G (p.Ser3919=)
| |
| 1 | g.215728339T>G | CA423430134 | USH2A | c.11757A>C (p.Ser3919=)
| |
| 1 | g.215728339T= | CA1220396578 | USH2A | c.11757A= (p.Ser3919=)
| |
| 1 | g.215728340G>A | CA344829629 | USH2A | c.11756C>T (p.Ser3919Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728340G>C | CA344829626 | USH2A | c.11756C>G (p.Ser3919Ter)
| ClinVar dbSNP |
| 1 | g.215728340G= | CA1220396579 | USH2A | c.11756C= (p.Ser3919=)
| |
| 1 | g.215728340G>T | CA344829632 | USH2A | c.11756C>A (p.Ser3919Ter)
| gnomAD v4 |
| 1 | g.215728341A>C | CA344829637 | USH2A | c.11755T>G (p.Ser3919Ala)
| |
| 1 | g.215728341A>G | CA344829639 | USH2A | c.11755T>C (p.Ser3919Pro)
| |
| 1 | g.215728341A>T | CA344829642 | USH2A | c.11755T>A (p.Ser3919Thr)
| |
| 1 | g.215728342C>A | CA344829644 | USH2A | c.11754G>T (p.Trp3918Cys)
| |
| 1 | g.215728342C= | CA1220396580 | USH2A | c.11754G= (p.Trp3918=)
| |
| 1 | g.215728342C>G | CA344829647 | USH2A | c.11754G>C (p.Trp3918Cys)
| |
| 1 | g.215728342C>T | CA344829667 | USH2A | c.11754G>A (p.Trp3918Ter)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728343C>A | CA344829677 | USH2A | c.11753G>T (p.Trp3918Leu)
| |
| 1 | g.215728343C>G | CA344829679 | USH2A | c.11753G>C (p.Trp3918Ser)
| |
| 1 | g.215728343C>T | CA344829681 | USH2A | c.11753G>A (p.Trp3918Ter)
| |
| 1 | g.215728345_215728348del | CA2586968152 | USH2A | c.11750_11753del (p.Val3917GlyfsTer15)
| |
| 1 | g.215728344A= | CA1220396581 | USH2A | c.11752T= (p.Trp3918=)
| |
| 1 | g.215728344A>C | CA344829682 | USH2A | c.11752T>G (p.Trp3918Gly)
| |
| 1 | g.215728344A>G | CA37395567 | USH2A | c.11752T>C (p.Trp3918Arg)
| dbSNP gnomAD v4 |
| 1 | g.215728344A>T | CA344829683 | USH2A | c.11752T>A (p.Trp3918Arg)
| |
| 1 | g.215728345G>A | CA423430151 | USH2A | c.11751C>T (p.Val3917=)
| |
| 1 | g.215728345G>C | CA423430147 | USH2A | c.11751C>G (p.Val3917=)
| ClinVar gnomAD v4 |
| 1 | g.215728345G>T | CA423430149 | USH2A | c.11751C>A (p.Val3917=)
| |
