UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154158814A>C | CA415309142 | OPN1LW | c.985-2A>C (n.985-2A>C) c.385-2A>C (n.385-2A>C) | |
| X | g.154158814A>G | CA415309143 | OPN1LW | c.985-2A>G (n.985-2A>G) c.385-2A>G (n.385-2A>G) | |
| X | g.154158814A>T | CA415309144 | OPN1LW | c.985-2A>T (n.985-2A>T) c.385-2A>T (n.385-2A>T) | |
| X | g.154158815G>A | CA415309145 | OPN1LW | c.985-1G>A (n.985-1G>A) c.385-1G>A (n.385-1G>A) | |
| X | g.154158815G>C | CA415309146 | OPN1LW | c.985-1G>C (n.985-1G>C) c.385-1G>C (n.385-1G>C) | |
| X | g.154158815G>T | CA415309147 | OPN1LW | c.985-1G>T (n.985-1G>T) c.385-1G>T (n.385-1G>T) | |
| X | g.154158816T>A | CA415309148 | OPN1LW | c.985T>A (p.Phe329Ile) c.385T>A (p.Phe129Ile) | |
| X | g.154158816T>C | CA415309149 | OPN1LW | c.985T>C (p.Phe329Leu) c.385T>C (p.Phe129Leu) | |
| X | g.154158816T>G | CA415309150 | OPN1LW | c.985T>G (p.Phe329Val) c.385T>G (p.Phe129Val) | |
| X | g.154158817T>A | CA415309151 | OPN1LW | c.986T>A (p.Phe329Tyr) c.386T>A (p.Phe129Tyr) | |
| X | g.154158817T>C | CA415309152 | OPN1LW | c.986T>C (p.Phe329Ser) c.386T>C (p.Phe129Ser) | |
| X | g.154158817T>G | CA415309153 | OPN1LW | c.986T>G (p.Phe329Cys) c.386T>G (p.Phe129Cys) | |
| X | g.154158818T>A | CA415309154 | OPN1LW | c.987T>A (p.Phe329Leu) c.387T>A (p.Phe129Leu) | |
| X | g.154158818T>C | CA519323968 | OPN1LW | c.987T>C (p.Phe329=) c.387T>C (p.Phe129=) | |
| X | g.154158818T>G | CA415309155 | OPN1LW | c.987T>G (p.Phe329Leu) c.387T>G (p.Phe129Leu) | |
| X | g.154158819C>A | CA519323972 | OPN1LW | c.988C>A (p.Arg330=) c.388C>A (p.Arg130=) | |
| X | g.154158819C>G | CA415309156 | OPN1LW | c.988C>G (p.Arg330Gly) c.388C>G (p.Arg130Gly) | |
| X | g.154158819C>T | CA415309157 | OPN1LW | c.988C>T (p.Arg330Ter) c.388C>T (p.Arg130Ter) | |
| X | g.154158820G>A | CA415309158 | OPN1LW | c.989G>A (p.Arg330Gln) c.389G>A (p.Arg130Gln) | |
| X | g.154158820G>C | CA415309159 | OPN1LW | c.989G>C (p.Arg330Pro) c.389G>C (p.Arg130Pro) | |
| X | g.154158820G>T | CA415309160 | OPN1LW | c.989G>T (p.Arg330Leu) c.389G>T (p.Arg130Leu) | |
| X | g.154158821A>C | CA519323986 | OPN1LW | c.990A>C (p.Arg330=) c.390A>C (p.Arg130=) | |
| X | g.154158821A>G | CA519323982 | OPN1LW | c.990A>G (p.Arg330=) c.390A>G (p.Arg130=) | |
| X | g.154158821A>T | CA519323984 | OPN1LW | c.990A>T (p.Arg330=) c.390A>T (p.Arg130=) | |
| X | g.154158822A>C | CA415309161 | OPN1LW | c.991A>C (p.Asn331His) c.391A>C (p.Asn131His) | |
| X | g.154158822A>G | CA415309162 | OPN1LW | c.991A>G (p.Asn331Asp) c.391A>G (p.Asn131Asp) | |
| X | g.154158822A>T | CA415309163 | OPN1LW | c.991A>T (p.Asn331Tyr) c.391A>T (p.Asn131Tyr) | |
| X | g.154158823A>C | CA415309164 | OPN1LW | c.992A>C (p.Asn331Thr) c.392A>C (p.Asn131Thr) | |
| X | g.154158823A>G | CA415309165 | OPN1LW | c.992A>G (p.Asn331Ser) c.392A>G (p.Asn131Ser) | |
| X | g.154158823A>T | CA415309166 | OPN1LW | c.992A>T (p.Asn331Ile) c.392A>T (p.Asn131Ile) | |
| X | g.154158824C>A | CA415309167 | OPN1LW | c.993C>A (p.Asn331Lys) c.393C>A (p.Asn131Lys) | |
| X | g.154158824C>G | CA415309168 | OPN1LW | c.993C>G (p.Asn331Lys) c.393C>G (p.Asn131Lys) | |
| X | g.154158824C>T | CA519323999 | OPN1LW | c.993C>T (p.Asn331=) c.393C>T (p.Asn131=) | |
| X | g.154158825T>A | CA415309169 | OPN1LW | c.994T>A (p.Cys332Ser) c.394T>A (p.Cys132Ser) | |
| X | g.154158825T>C | CA415309171 | OPN1LW | c.994T>C (p.Cys332Arg) c.394T>C (p.Cys132Arg) | |
| X | g.154158825T>G | CA415309170 | OPN1LW | c.994T>G (p.Cys332Gly) c.394T>G (p.Cys132Gly) | |
| X | g.154158826G>A | CA415309172 | OPN1LW | c.995G>A (p.Cys332Tyr) c.395G>A (p.Cys132Tyr) | |
| X | g.154158826G>C | CA415309173 | OPN1LW | c.995G>C (p.Cys332Ser) c.395G>C (p.Cys132Ser) | |
| X | g.154158826G>T | CA415309174 | OPN1LW | c.995G>T (p.Cys332Phe) c.395G>T (p.Cys132Phe) | |
| X | g.154158827C>A | CA415309175 | OPN1LW | c.996C>A (p.Cys332Ter) c.396C>A (p.Cys132Ter) | |
| X | g.154158827C>G | CA415309176 | OPN1LW | c.996C>G (p.Cys332Trp) c.396C>G (p.Cys132Trp) | |
| X | g.154158827C>T | CA519324013 | OPN1LW | c.996C>T (p.Cys332=) c.396C>T (p.Cys132=) | |
| X | g.154158828A>C | CA415309177 | OPN1LW | c.997A>C (p.Ile333Leu) c.397A>C (p.Ile133Leu) | |
| X | g.154158828A>G | CA415309178 | OPN1LW | c.997A>G (p.Ile333Val) c.397A>G (p.Ile133Val) | |
| X | g.154158828A>T | CA415309179 | OPN1LW | c.997A>T (p.Ile333Phe) c.397A>T (p.Ile133Phe) | |
| X | g.154158829T>A | CA415309180 | OPN1LW | c.998T>A (p.Ile333Asn) c.398T>A (p.Ile133Asn) | |
| X | g.154158829T>C | CA415309181 | OPN1LW | c.998T>C (p.Ile333Thr) c.398T>C (p.Ile133Thr) | |
| X | g.154158829T>G | CA415309182 | OPN1LW | c.998T>G (p.Ile333Ser) c.398T>G (p.Ile133Ser) | |
| X | g.154158830C>A | CA519324025 | OPN1LW | c.999C>A (p.Ile333=) c.399C>A (p.Ile133=) | |
| X | g.154158830C>G | CA415309183 | OPN1LW | c.999C>G (p.Ile333Met) c.399C>G (p.Ile133Met) | |
| X | g.154158830C>T | CA519324029 | OPN1LW | c.999C>T (p.Ile333=) c.399C>T (p.Ile133=) | |
| X | g.154158831T>A | CA415309184 | OPN1LW | c.1000T>A (p.Leu334Met) c.400T>A (p.Leu134Met) | |
| X | g.154158831T>C | CA519324033 | OPN1LW | c.1000T>C (p.Leu334=) c.400T>C (p.Leu134=) | |
| X | g.154158831T>G | CA415309185 | OPN1LW | c.1000T>G (p.Leu334Val) c.400T>G (p.Leu134Val) | |
| X | g.154158832T>A | CA415309186 | OPN1LW | c.1001T>A (p.Leu334Ter) c.401T>A (p.Leu134Ter) | |
| X | g.154158832T>C | CA415309187 | OPN1LW | c.1001T>C (p.Leu334Ser) c.401T>C (p.Leu134Ser) | |
| X | g.154158832T>G | CA415309188 | OPN1LW | c.1001T>G (p.Leu334Trp) c.401T>G (p.Leu134Trp) | |
| X | g.154158833G>A | CA519324041 | OPN1LW | c.1002G>A (p.Leu334=) c.402G>A (p.Leu134=) | |
| X | g.154158833G>C | CA415309189 | OPN1LW | c.1002G>C (p.Leu334Phe) c.402G>C (p.Leu134Phe) | |
| X | g.154158833G>T | CA415309190 | OPN1LW | c.1002G>T (p.Leu334Phe) c.402G>T (p.Leu134Phe) | |
| X | g.154158834C>A | CA415309191 | OPN1LW | c.1003C>A (p.Gln335Lys) c.403C>A (p.Gln135Lys) | |
| X | g.154158834C>G | CA415309192 | OPN1LW | c.1003C>G (p.Gln335Glu) c.403C>G (p.Gln135Glu) | |
| X | g.154158834C>T | CA415309193 | OPN1LW | c.1003C>T (p.Gln335Ter) c.403C>T (p.Gln135Ter) | |
| X | g.154158835A>C | CA415309194 | OPN1LW | c.1004A>C (p.Gln335Pro) c.404A>C (p.Gln135Pro) | |
| X | g.154158835A>G | CA415309195 | OPN1LW | c.1004A>G (p.Gln335Arg) c.404A>G (p.Gln135Arg) | |
| X | g.154158835A>T | CA415309196 | OPN1LW | c.1004A>T (p.Gln335Leu) c.404A>T (p.Gln135Leu) | |
| X | g.154158836G>A | CA519324056 | OPN1LW | c.1005G>A (p.Gln335=) c.405G>A (p.Gln135=) | |
| X | g.154158836G>C | CA415309198 | OPN1LW | c.1005G>C (p.Gln335His) c.405G>C (p.Gln135His) | |
| X | g.154158836G>T | CA415309197 | OPN1LW | c.1005G>T (p.Gln335His) c.405G>T (p.Gln135His) | |
| X | g.154158837C>A | CA415309199 | OPN1LW | c.1006C>A (p.Leu336Ile) c.406C>A (p.Leu136Ile) | |
| X | g.154158837C>G | CA415309201 | OPN1LW | c.1006C>G (p.Leu336Val) c.406C>G (p.Leu136Val) | |
| X | g.154158837C>T | CA415309200 | OPN1LW | c.1006C>T (p.Leu336Phe) c.406C>T (p.Leu136Phe) | |
| X | g.154158838T>A | CA415309202 | OPN1LW | c.1007T>A (p.Leu336His) c.407T>A (p.Leu136His) | |
| X | g.154158838T>C | CA415309204 | OPN1LW | c.1007T>C (p.Leu336Pro) c.407T>C (p.Leu136Pro) | |
| X | g.154158838T>G | CA415309203 | OPN1LW | c.1007T>G (p.Leu336Arg) c.407T>G (p.Leu136Arg) | |
| X | g.154158839T>A | CA519324071 | OPN1LW | c.1008T>A (p.Leu336=) c.408T>A (p.Leu136=) | |
| X | g.154158839T>C | CA519324073 | OPN1LW | c.1008T>C (p.Leu336=) c.408T>C (p.Leu136=) | |
| X | g.154158839T>G | CA519324075 | OPN1LW | c.1008T>G (p.Leu336=) c.408T>G (p.Leu136=) | |
| X | g.154158840T>A | CA415309205 | OPN1LW | c.1009T>A (p.Phe337Ile) c.409T>A (p.Phe137Ile) | |
| X | g.154158840T>C | CA415309207 | OPN1LW | c.1009T>C (p.Phe337Leu) c.409T>C (p.Phe137Leu) | |
| X | g.154158840T>G | CA415309206 | OPN1LW | c.1009T>G (p.Phe337Val) c.409T>G (p.Phe137Val) | |
| X | g.154158841T>A | CA415309208 | OPN1LW | c.1010T>A (p.Phe337Tyr) c.410T>A (p.Phe137Tyr) | |
| X | g.154158841T>C | CA415309209 | OPN1LW | c.1010T>C (p.Phe337Ser) c.410T>C (p.Phe137Ser) | |
| X | g.154158841T>G | CA415309210 | OPN1LW | c.1010T>G (p.Phe337Cys) c.410T>G (p.Phe137Cys) | |
| X | g.154158842C>A | CA415309211 | OPN1LW | c.1011C>A (p.Phe337Leu) c.411C>A (p.Phe137Leu) | |
| X | g.154158842C>G | CA415309212 | OPN1LW | c.1011C>G (p.Phe337Leu) c.411C>G (p.Phe137Leu) | |
| X | g.154158842C>T | CA519324087 | OPN1LW | c.1011C>T (p.Phe337=) c.411C>T (p.Phe137=) | |
| X | g.154158843G>A | CA415309213 | OPN1LW | c.1012G>A (p.Gly338Arg) c.412G>A (p.Gly138Arg) | |
| X | g.154158843G>C | CA415309214 | OPN1LW | c.1012G>C (p.Gly338Arg) c.412G>C (p.Gly138Arg) | |
| X | g.154158843G>T | CA415309215 | OPN1LW | c.1012G>T (p.Gly338Trp) c.412G>T (p.Gly138Trp) | |
| X | g.154158844G>A | CA255281 | OPN1LW | c.1013G>A (p.Gly338Glu) c.413G>A (p.Gly138Glu) | ClinVar dbSNP |
| X | g.154158844G>C | CA415309216 | OPN1LW | c.1013G>C (p.Gly338Ala) c.413G>C (p.Gly138Ala) | |
| X | g.154158844G= | CA2466614421 | OPN1LW | c.1013G= (p.Gly338=) c.413G= (p.Gly138=) | |
| X | g.154158844G>T | CA415309217 | OPN1LW | c.1013G>T (p.Gly338Val) c.413G>T (p.Gly138Val) | |
| X | g.154158845G>A | CA519324101 | OPN1LW | c.1014G>A (p.Gly338=) c.414G>A (p.Gly138=) | |
| X | g.154158845G>C | CA519324103 | OPN1LW | c.1014G>C (p.Gly338=) c.414G>C (p.Gly138=) | |
| X | g.154158845G>T | CA519324105 | OPN1LW | c.1014G>T (p.Gly338=) c.414G>T (p.Gly138=) | |
| X | g.154158846A>C | CA415309218 | OPN1LW | c.1015A>C (p.Lys339Gln) c.415A>C (p.Lys139Gln) | |
| X | g.154158846A>G | CA415309220 | OPN1LW | c.1015A>G (p.Lys339Glu) c.415A>G (p.Lys139Glu) | |
| X | g.154158846A>T | CA415309219 | OPN1LW | c.1015A>T (p.Lys339Ter) c.415A>T (p.Lys139Ter) | |
| X | g.154158847A>C | CA415309221 | OPN1LW | c.1016A>C (p.Lys339Thr) c.416A>C (p.Lys139Thr) | |
| X | g.154158847A>G | CA415309222 | OPN1LW | c.1016A>G (p.Lys339Arg) c.416A>G (p.Lys139Arg) | |
| X | g.154158847A>T | CA415309223 | OPN1LW | c.1016A>T (p.Lys339Met) c.416A>T (p.Lys139Met) | |
| X | g.154158848G>A | CA519324118 | OPN1LW | c.1017G>A (p.Lys339=) c.417G>A (p.Lys139=) | |
| X | g.154158848G>C | CA415309224 | OPN1LW | c.1017G>C (p.Lys339Asn) c.417G>C (p.Lys139Asn) | |
| X | g.154158848G>T | CA415309225 | OPN1LW | c.1017G>T (p.Lys339Asn) c.417G>T (p.Lys139Asn) | |
| X | g.154158849A>C | CA415309226 | OPN1LW | c.1018A>C (p.Lys340Gln) c.418A>C (p.Lys140Gln) | |
| X | g.154158849A>G | CA415309228 | OPN1LW | c.1018A>G (p.Lys340Glu) c.418A>G (p.Lys140Glu) | |
| X | g.154158849A>T | CA415309230 | OPN1LW | c.1018A>T (p.Lys340Ter) c.418A>T (p.Lys140Ter) | |
| X | g.154158850A>C | CA415309233 | OPN1LW | c.1019A>C (p.Lys340Thr) c.419A>C (p.Lys140Thr) | |
| X | g.154158850A>G | CA415309232 | OPN1LW | c.1019A>G (p.Lys340Arg) c.419A>G (p.Lys140Arg) | |
| X | g.154158850A>T | CA415309231 | OPN1LW | c.1019A>T (p.Lys340Met) c.419A>T (p.Lys140Met) | |
| X | g.154158851G>A | CA519324125 | OPN1LW | c.1020G>A (p.Lys340=) c.420G>A (p.Lys140=) | |
| X | g.154158851G>C | CA415309234 | OPN1LW | c.1020G>C (p.Lys340Asn) c.420G>C (p.Lys140Asn) | |
| X | g.154158851G>T | CA415309235 | OPN1LW | c.1020G>T (p.Lys340Asn) c.420G>T (p.Lys140Asn) |