WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.35761247G>A | CA16043155 | RBFOX2 | c.829C>T (p.Pro277Ser) c.709C>T (p.Pro237Ser) c.*240C>T (n.*240C>T) c.*216C>T (n.*216C>T) c.*159C>T (n.*159C>T) c.919C>T (p.Pro307Ser) c.652C>T (p.Pro218Ser) c.646C>T (p.Pro216Ser) c.649C>T (p.Pro217Ser) c.706C>T (p.Pro236Ser) c.264C>T c.916C>T (p.Pro306Ser) c.775C>T (p.Pro259Ser) c.772C>T (p.Pro258Ser) c.697C>T (p.Pro233Ser) c.745C>T (p.Pro249Ser) c.679C>T (p.Pro227Ser) c.841C>T (p.Pro281Ser) c.727C>T (p.Pro243Ser) c.724C>T (p.Pro242Ser) c.838C>T (p.Pro280Ser) c.694C>T (p.Pro232Ser) c.913C>T (p.Pro305Ser) c.823C>T (p.Pro275Ser) | ClinVar dbSNP |
| 22 | g.35761247G>C | CA411358963 | RBFOX2 | c.829C>G (p.Pro277Ala) c.709C>G (p.Pro237Ala) c.*240C>G (n.*240C>G) c.*216C>G (n.*216C>G) c.*159C>G (n.*159C>G) c.919C>G (p.Pro307Ala) c.652C>G (p.Pro218Ala) c.646C>G (p.Pro216Ala) c.649C>G (p.Pro217Ala) c.706C>G (p.Pro236Ala) c.264C>G c.916C>G (p.Pro306Ala) c.775C>G (p.Pro259Ala) c.772C>G (p.Pro258Ala) c.697C>G (p.Pro233Ala) c.745C>G (p.Pro249Ala) c.679C>G (p.Pro227Ala) c.841C>G (p.Pro281Ala) c.727C>G (p.Pro243Ala) c.724C>G (p.Pro242Ala) c.838C>G (p.Pro280Ala) c.694C>G (p.Pro232Ala) c.913C>G (p.Pro305Ala) c.823C>G (p.Pro275Ala) | |
| 22 | g.35761247G= | CA2403556517 | RBFOX2 | c.829C= (p.Pro277=) c.709C= (p.Pro237=) c.*240C= (n.*240C=) c.*216C= (n.*216C=) c.*159C= (n.*159C=) c.919C= (p.Pro307=) c.652C= (p.Pro218=) c.646C= (p.Pro216=) c.649C= (p.Pro217=) c.706C= (p.Pro236=) c.264C= c.916C= (p.Pro306=) c.775C= (p.Pro259=) c.772C= (p.Pro258=) c.697C= (p.Pro233=) c.745C= (p.Pro249=) c.679C= (p.Pro227=) c.841C= (p.Pro281=) c.727C= (p.Pro243=) c.724C= (p.Pro242=) c.838C= (p.Pro280=) c.694C= (p.Pro232=) c.913C= (p.Pro305=) c.823C= (p.Pro275=) | |
| 22 | g.35761247G>T | CA411358961 | RBFOX2 | c.829C>A (p.Pro277Thr) c.709C>A (p.Pro237Thr) c.*240C>A (n.*240C>A) c.*216C>A (n.*216C>A) c.*159C>A (n.*159C>A) c.919C>A (p.Pro307Thr) c.652C>A (p.Pro218Thr) c.646C>A (p.Pro216Thr) c.649C>A (p.Pro217Thr) c.706C>A (p.Pro236Thr) c.264C>A c.916C>A (p.Pro306Thr) c.775C>A (p.Pro259Thr) c.772C>A (p.Pro258Thr) c.697C>A (p.Pro233Thr) c.745C>A (p.Pro249Thr) c.679C>A (p.Pro227Thr) c.841C>A (p.Pro281Thr) c.727C>A (p.Pro243Thr) c.724C>A (p.Pro242Thr) c.838C>A (p.Pro280Thr) c.694C>A (p.Pro232Thr) c.913C>A (p.Pro305Thr) c.823C>A (p.Pro275Thr) | |
| 22 | g.35761248C>A | CA10206823 | RBFOX2 | c.828G>T (p.Val276=) c.708G>T (p.Val236=) c.*239G>T (n.*239G>T) c.*215G>T (n.*215G>T) c.*158G>T (n.*158G>T) c.918G>T (p.Val306=) c.651G>T (p.Val217=) c.645G>T (p.Val215=) c.648G>T (p.Val216=) c.705G>T (p.Val235=) c.263G>T c.915G>T (p.Val305=) c.774G>T (p.Val258=) c.771G>T (p.Val257=) c.696G>T (p.Val232=) c.744G>T (p.Val248=) c.678G>T (p.Val226=) c.840G>T (p.Val280=) c.726G>T (p.Val242=) c.723G>T (p.Val241=) c.837G>T (p.Val279=) c.693G>T (p.Val231=) c.912G>T (p.Val304=) c.822G>T (p.Val274=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.35761248C= | CA2403556518 | RBFOX2 | c.828G= (p.Val276=) c.708G= (p.Val236=) c.*239G= (n.*239G=) c.*215G= (n.*215G=) c.*158G= (n.*158G=) c.918G= (p.Val306=) c.651G= (p.Val217=) c.645G= (p.Val215=) c.648G= (p.Val216=) c.705G= (p.Val235=) c.263G= c.915G= (p.Val305=) c.774G= (p.Val258=) c.771G= (p.Val257=) c.696G= (p.Val232=) c.744G= (p.Val248=) c.678G= (p.Val226=) c.840G= (p.Val280=) c.726G= (p.Val242=) c.723G= (p.Val241=) c.837G= (p.Val279=) c.693G= (p.Val231=) c.912G= (p.Val304=) c.822G= (p.Val274=) | |
| 22 | g.35761248C>G | CA514339644 | RBFOX2 | c.828G>C (p.Val276=) c.708G>C (p.Val236=) c.*239G>C (n.*239G>C) c.*215G>C (n.*215G>C) c.*158G>C (n.*158G>C) c.918G>C (p.Val306=) c.651G>C (p.Val217=) c.645G>C (p.Val215=) c.648G>C (p.Val216=) c.705G>C (p.Val235=) c.263G>C c.915G>C (p.Val305=) c.774G>C (p.Val258=) c.771G>C (p.Val257=) c.696G>C (p.Val232=) c.744G>C (p.Val248=) c.678G>C (p.Val226=) c.840G>C (p.Val280=) c.726G>C (p.Val242=) c.723G>C (p.Val241=) c.837G>C (p.Val279=) c.693G>C (p.Val231=) c.912G>C (p.Val304=) c.822G>C (p.Val274=) | |
| 22 | g.35761248C>T | CA514339645 | RBFOX2 | c.828G>A (p.Val276=) c.708G>A (p.Val236=) c.*239G>A (n.*239G>A) c.*215G>A (n.*215G>A) c.*158G>A (n.*158G>A) c.918G>A (p.Val306=) c.651G>A (p.Val217=) c.645G>A (p.Val215=) c.648G>A (p.Val216=) c.705G>A (p.Val235=) c.263G>A c.915G>A (p.Val305=) c.774G>A (p.Val258=) c.771G>A (p.Val257=) c.696G>A (p.Val232=) c.744G>A (p.Val248=) c.678G>A (p.Val226=) c.840G>A (p.Val280=) c.726G>A (p.Val242=) c.723G>A (p.Val241=) c.837G>A (p.Val279=) c.693G>A (p.Val231=) c.912G>A (p.Val304=) c.822G>A (p.Val274=) | COSMIC COSMIC |
| 22 | g.35761249A>C | CA411358973 | RBFOX2 | c.827T>G (p.Val276Gly) c.707T>G (p.Val236Gly) c.*238T>G (n.*238T>G) c.*214T>G (n.*214T>G) c.*157T>G (n.*157T>G) c.917T>G (p.Val306Gly) c.650T>G (p.Val217Gly) c.644T>G (p.Val215Gly) c.647T>G (p.Val216Gly) c.704T>G (p.Val235Gly) c.262T>G c.914T>G (p.Val305Gly) c.773T>G (p.Val258Gly) c.770T>G (p.Val257Gly) c.695T>G (p.Val232Gly) c.743T>G (p.Val248Gly) c.677T>G (p.Val226Gly) c.839T>G (p.Val280Gly) c.725T>G (p.Val242Gly) c.722T>G (p.Val241Gly) c.836T>G (p.Val279Gly) c.692T>G (p.Val231Gly) c.911T>G (p.Val304Gly) c.821T>G (p.Val274Gly) | |
| 22 | g.35761249A>G | CA411358968 | RBFOX2 | c.827T>C (p.Val276Ala) c.707T>C (p.Val236Ala) c.*238T>C (n.*238T>C) c.*214T>C (n.*214T>C) c.*157T>C (n.*157T>C) c.917T>C (p.Val306Ala) c.650T>C (p.Val217Ala) c.644T>C (p.Val215Ala) c.647T>C (p.Val216Ala) c.704T>C (p.Val235Ala) c.262T>C c.914T>C (p.Val305Ala) c.773T>C (p.Val258Ala) c.770T>C (p.Val257Ala) c.695T>C (p.Val232Ala) c.743T>C (p.Val248Ala) c.677T>C (p.Val226Ala) c.839T>C (p.Val280Ala) c.725T>C (p.Val242Ala) c.722T>C (p.Val241Ala) c.836T>C (p.Val279Ala) c.692T>C (p.Val231Ala) c.911T>C (p.Val304Ala) c.821T>C (p.Val274Ala) | |
| 22 | g.35761249A>T | CA411358970 | RBFOX2 | c.827T>A (p.Val276Glu) c.707T>A (p.Val236Glu) c.*238T>A (n.*238T>A) c.*214T>A (n.*214T>A) c.*157T>A (n.*157T>A) c.917T>A (p.Val306Glu) c.650T>A (p.Val217Glu) c.644T>A (p.Val215Glu) c.647T>A (p.Val216Glu) c.704T>A (p.Val235Glu) c.262T>A c.914T>A (p.Val305Glu) c.773T>A (p.Val258Glu) c.770T>A (p.Val257Glu) c.695T>A (p.Val232Glu) c.743T>A (p.Val248Glu) c.677T>A (p.Val226Glu) c.839T>A (p.Val280Glu) c.725T>A (p.Val242Glu) c.722T>A (p.Val241Glu) c.836T>A (p.Val279Glu) c.692T>A (p.Val231Glu) c.911T>A (p.Val304Glu) c.821T>A (p.Val274Glu) | |
| 22 | g.35761250C>A | CA411358975 | RBFOX2 | c.826G>T (p.Val276Leu) c.706G>T (p.Val236Leu) c.*237G>T (n.*237G>T) c.*213G>T (n.*213G>T) c.*156G>T (n.*156G>T) c.916G>T (p.Val306Leu) c.649G>T (p.Val217Leu) c.643G>T (p.Val215Leu) c.646G>T (p.Val216Leu) c.703G>T (p.Val235Leu) c.261G>T c.913G>T (p.Val305Leu) c.772G>T (p.Val258Leu) c.769G>T (p.Val257Leu) c.694G>T (p.Val232Leu) c.742G>T (p.Val248Leu) c.676G>T (p.Val226Leu) c.838G>T (p.Val280Leu) c.724G>T (p.Val242Leu) c.721G>T (p.Val241Leu) c.835G>T (p.Val279Leu) c.691G>T (p.Val231Leu) c.910G>T (p.Val304Leu) c.820G>T (p.Val274Leu) | |
| 22 | g.35761250C= | CA2403556519 | RBFOX2 | c.826G= (p.Val276=) c.706G= (p.Val236=) c.*237G= (n.*237G=) c.*213G= (n.*213G=) c.*156G= (n.*156G=) c.916G= (p.Val306=) c.649G= (p.Val217=) c.643G= (p.Val215=) c.646G= (p.Val216=) c.703G= (p.Val235=) c.261G= c.913G= (p.Val305=) c.772G= (p.Val258=) c.769G= (p.Val257=) c.694G= (p.Val232=) c.742G= (p.Val248=) c.676G= (p.Val226=) c.838G= (p.Val280=) c.724G= (p.Val242=) c.721G= (p.Val241=) c.835G= (p.Val279=) c.691G= (p.Val231=) c.910G= (p.Val304=) c.820G= (p.Val274=) | |
| 22 | g.35761250C>G | CA411358979 | RBFOX2 | c.826G>C (p.Val276Leu) c.706G>C (p.Val236Leu) c.*237G>C (n.*237G>C) c.*213G>C (n.*213G>C) c.*156G>C (n.*156G>C) c.916G>C (p.Val306Leu) c.649G>C (p.Val217Leu) c.643G>C (p.Val215Leu) c.646G>C (p.Val216Leu) c.703G>C (p.Val235Leu) c.261G>C c.913G>C (p.Val305Leu) c.772G>C (p.Val258Leu) c.769G>C (p.Val257Leu) c.694G>C (p.Val232Leu) c.742G>C (p.Val248Leu) c.676G>C (p.Val226Leu) c.838G>C (p.Val280Leu) c.724G>C (p.Val242Leu) c.721G>C (p.Val241Leu) c.835G>C (p.Val279Leu) c.691G>C (p.Val231Leu) c.910G>C (p.Val304Leu) c.820G>C (p.Val274Leu) | |
| 22 | g.35761250C>T | CA10206824 | RBFOX2 | c.826G>A (p.Val276Met) c.706G>A (p.Val236Met) c.*237G>A (n.*237G>A) c.*213G>A (n.*213G>A) c.*156G>A (n.*156G>A) c.916G>A (p.Val306Met) c.649G>A (p.Val217Met) c.643G>A (p.Val215Met) c.646G>A (p.Val216Met) c.703G>A (p.Val235Met) c.261G>A c.913G>A (p.Val305Met) c.772G>A (p.Val258Met) c.769G>A (p.Val257Met) c.694G>A (p.Val232Met) c.742G>A (p.Val248Met) c.676G>A (p.Val226Met) c.838G>A (p.Val280Met) c.724G>A (p.Val242Met) c.721G>A (p.Val241Met) c.835G>A (p.Val279Met) c.691G>A (p.Val231Met) c.910G>A (p.Val304Met) c.820G>A (p.Val274Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.35761251T>A | CA514339646 | RBFOX2 | c.825A>T (p.Ala275=) c.705A>T (p.Ala235=) c.*236A>T (n.*236A>T) c.*212A>T (n.*212A>T) c.*155A>T (n.*155A>T) c.915A>T (p.Ala305=) c.648A>T (p.Ala216=) c.642A>T (p.Ala214=) c.645A>T (p.Ala215=) c.702A>T (p.Ala234=) c.260A>T c.912A>T (p.Ala304=) c.771A>T (p.Ala257=) c.768A>T (p.Ala256=) c.693A>T (p.Ala231=) c.741A>T (p.Ala247=) c.675A>T (p.Ala225=) c.837A>T (p.Ala279=) c.723A>T (p.Ala241=) c.720A>T (p.Ala240=) c.834A>T (p.Ala278=) c.690A>T (p.Ala230=) c.909A>T (p.Ala303=) c.819A>T (p.Ala273=) | |
| 22 | g.35761251T>C | CA514339648 | RBFOX2 | c.825A>G (p.Ala275=) c.705A>G (p.Ala235=) c.*236A>G (n.*236A>G) c.*212A>G (n.*212A>G) c.*155A>G (n.*155A>G) c.915A>G (p.Ala305=) c.648A>G (p.Ala216=) c.642A>G (p.Ala214=) c.645A>G (p.Ala215=) c.702A>G (p.Ala234=) c.260A>G c.912A>G (p.Ala304=) c.771A>G (p.Ala257=) c.768A>G (p.Ala256=) c.693A>G (p.Ala231=) c.741A>G (p.Ala247=) c.675A>G (p.Ala225=) c.837A>G (p.Ala279=) c.723A>G (p.Ala241=) c.720A>G (p.Ala240=) c.834A>G (p.Ala278=) c.690A>G (p.Ala230=) c.909A>G (p.Ala303=) c.819A>G (p.Ala273=) | |
| 22 | g.35761251T>G | CA514339647 | RBFOX2 | c.825A>C (p.Ala275=) c.705A>C (p.Ala235=) c.*236A>C (n.*236A>C) c.*212A>C (n.*212A>C) c.*155A>C (n.*155A>C) c.915A>C (p.Ala305=) c.648A>C (p.Ala216=) c.642A>C (p.Ala214=) c.645A>C (p.Ala215=) c.702A>C (p.Ala234=) c.260A>C c.912A>C (p.Ala304=) c.771A>C (p.Ala257=) c.768A>C (p.Ala256=) c.693A>C (p.Ala231=) c.741A>C (p.Ala247=) c.675A>C (p.Ala225=) c.837A>C (p.Ala279=) c.723A>C (p.Ala241=) c.720A>C (p.Ala240=) c.834A>C (p.Ala278=) c.690A>C (p.Ala230=) c.909A>C (p.Ala303=) c.819A>C (p.Ala273=) | |
| 22 | g.35761254_35761264del | CA2580099710 | RBFOX2 | c.815_825del (p.Asn272SerfsTer?) c.695_705del (p.Asn232SerfsTer?) c.*226_*236del (n.*226_*236del) c.*202_*212del (n.*202_*212del) c.*145_*155del (n.*145_*155del) c.905_915del (p.Asn302SerfsTer?) c.638_648del (p.Asn213SerfsTer?) c.632_642del (p.Asn211SerfsTer?) c.635_645del (p.Asn212SerfsTer?) c.692_702del (p.Asn231SerfsTer?) c.250_260del c.902_912del (p.Asn301SerfsTer?) c.761_771del (p.Asn254SerfsTer?) c.758_768del (p.Asn253SerfsTer?) c.683_693del (p.Asn228SerfsTer?) c.731_741del (p.Asn244SerfsTer?) c.665_675del (p.Asn222SerfsTer?) c.827_837del (p.Asn276SerfsTer?) c.713_723del (p.Asn238SerfsTer?) c.710_720del (p.Asn237SerfsTer?) c.824_834del (p.Asn275SerfsTer?) c.680_690del (p.Asn227SerfsTer?) c.899_909del (p.Asn300SerfsTer?) c.809_819del (p.Asn270SerfsTer?) | ClinVar |
| 22 | g.35761252G>A | CA411358984 | RBFOX2 | c.824C>T (p.Ala275Val) c.704C>T (p.Ala235Val) c.*235C>T (n.*235C>T) c.*211C>T (n.*211C>T) c.*154C>T (n.*154C>T) c.914C>T (p.Ala305Val) c.647C>T (p.Ala216Val) c.641C>T (p.Ala214Val) c.644C>T (p.Ala215Val) c.701C>T (p.Ala234Val) c.259C>T c.911C>T (p.Ala304Val) c.770C>T (p.Ala257Val) c.767C>T (p.Ala256Val) c.692C>T (p.Ala231Val) c.740C>T (p.Ala247Val) c.674C>T (p.Ala225Val) c.836C>T (p.Ala279Val) c.722C>T (p.Ala241Val) c.719C>T (p.Ala240Val) c.833C>T (p.Ala278Val) c.689C>T (p.Ala230Val) c.908C>T (p.Ala303Val) c.818C>T (p.Ala273Val) | gnomAD v4 |
| 22 | g.35761252G>C | CA411358998 | RBFOX2 | c.824C>G (p.Ala275Gly) c.704C>G (p.Ala235Gly) c.*235C>G (n.*235C>G) c.*211C>G (n.*211C>G) c.*154C>G (n.*154C>G) c.914C>G (p.Ala305Gly) c.647C>G (p.Ala216Gly) c.641C>G (p.Ala214Gly) c.644C>G (p.Ala215Gly) c.701C>G (p.Ala234Gly) c.259C>G c.911C>G (p.Ala304Gly) c.770C>G (p.Ala257Gly) c.767C>G (p.Ala256Gly) c.692C>G (p.Ala231Gly) c.740C>G (p.Ala247Gly) c.674C>G (p.Ala225Gly) c.836C>G (p.Ala279Gly) c.722C>G (p.Ala241Gly) c.719C>G (p.Ala240Gly) c.833C>G (p.Ala278Gly) c.689C>G (p.Ala230Gly) c.908C>G (p.Ala303Gly) c.818C>G (p.Ala273Gly) | |
| 22 | g.35761252G>T | CA411359002 | RBFOX2 | c.824C>A (p.Ala275Glu) c.704C>A (p.Ala235Glu) c.*235C>A (n.*235C>A) c.*211C>A (n.*211C>A) c.*154C>A (n.*154C>A) c.914C>A (p.Ala305Glu) c.647C>A (p.Ala216Glu) c.641C>A (p.Ala214Glu) c.644C>A (p.Ala215Glu) c.701C>A (p.Ala234Glu) c.259C>A c.911C>A (p.Ala304Glu) c.770C>A (p.Ala257Glu) c.767C>A (p.Ala256Glu) c.692C>A (p.Ala231Glu) c.740C>A (p.Ala247Glu) c.674C>A (p.Ala225Glu) c.836C>A (p.Ala279Glu) c.722C>A (p.Ala241Glu) c.719C>A (p.Ala240Glu) c.833C>A (p.Ala278Glu) c.689C>A (p.Ala230Glu) c.908C>A (p.Ala303Glu) c.818C>A (p.Ala273Glu) | |
| 22 | g.35761253C>A | CA411359005 | RBFOX2 | c.823G>T (p.Ala275Ser) c.703G>T (p.Ala235Ser) c.*234G>T (n.*234G>T) c.*210G>T (n.*210G>T) c.*153G>T (n.*153G>T) c.913G>T (p.Ala305Ser) c.646G>T (p.Ala216Ser) c.640G>T (p.Ala214Ser) c.643G>T (p.Ala215Ser) c.700G>T (p.Ala234Ser) c.258G>T c.910G>T (p.Ala304Ser) c.769G>T (p.Ala257Ser) c.766G>T (p.Ala256Ser) c.691G>T (p.Ala231Ser) c.739G>T (p.Ala247Ser) c.673G>T (p.Ala225Ser) c.835G>T (p.Ala279Ser) c.721G>T (p.Ala241Ser) c.718G>T (p.Ala240Ser) c.832G>T (p.Ala278Ser) c.688G>T (p.Ala230Ser) c.907G>T (p.Ala303Ser) c.817G>T (p.Ala273Ser) | |
| 22 | g.35761253C>G | CA411359009 | RBFOX2 | c.823G>C (p.Ala275Pro) c.703G>C (p.Ala235Pro) c.*234G>C (n.*234G>C) c.*210G>C (n.*210G>C) c.*153G>C (n.*153G>C) c.913G>C (p.Ala305Pro) c.646G>C (p.Ala216Pro) c.640G>C (p.Ala214Pro) c.643G>C (p.Ala215Pro) c.700G>C (p.Ala234Pro) c.258G>C c.910G>C (p.Ala304Pro) c.769G>C (p.Ala257Pro) c.766G>C (p.Ala256Pro) c.691G>C (p.Ala231Pro) c.739G>C (p.Ala247Pro) c.673G>C (p.Ala225Pro) c.835G>C (p.Ala279Pro) c.721G>C (p.Ala241Pro) c.718G>C (p.Ala240Pro) c.832G>C (p.Ala278Pro) c.688G>C (p.Ala230Pro) c.907G>C (p.Ala303Pro) c.817G>C (p.Ala273Pro) | |
| 22 | g.35761253C>T | CA411359010 | RBFOX2 | c.823G>A (p.Ala275Thr) c.703G>A (p.Ala235Thr) c.*234G>A (n.*234G>A) c.*210G>A (n.*210G>A) c.*153G>A (n.*153G>A) c.913G>A (p.Ala305Thr) c.646G>A (p.Ala216Thr) c.640G>A (p.Ala214Thr) c.643G>A (p.Ala215Thr) c.700G>A (p.Ala234Thr) c.258G>A c.910G>A (p.Ala304Thr) c.769G>A (p.Ala257Thr) c.766G>A (p.Ala256Thr) c.691G>A (p.Ala231Thr) c.739G>A (p.Ala247Thr) c.673G>A (p.Ala225Thr) c.835G>A (p.Ala279Thr) c.721G>A (p.Ala241Thr) c.718G>A (p.Ala240Thr) c.832G>A (p.Ala278Thr) c.688G>A (p.Ala230Thr) c.907G>A (p.Ala303Thr) c.817G>A (p.Ala273Thr) | |
| 22 | g.35761254T>A | CA514339649 | RBFOX2 | c.822A>T (p.Ala274=) c.702A>T (p.Ala234=) c.*233A>T (n.*233A>T) c.*209A>T (n.*209A>T) c.*152A>T (n.*152A>T) c.912A>T (p.Ala304=) c.645A>T (p.Ala215=) c.639A>T (p.Ala213=) c.642A>T (p.Ala214=) c.699A>T (p.Ala233=) c.257A>T c.909A>T (p.Ala303=) c.768A>T (p.Ala256=) c.765A>T (p.Ala255=) c.690A>T (p.Ala230=) c.738A>T (p.Ala246=) c.672A>T (p.Ala224=) c.834A>T (p.Ala278=) c.720A>T (p.Ala240=) c.717A>T (p.Ala239=) c.831A>T (p.Ala277=) c.687A>T (p.Ala229=) c.906A>T (p.Ala302=) c.816A>T (p.Ala272=) | |
| 22 | g.35761254T>C | CA514339650 | RBFOX2 | c.822A>G (p.Ala274=) c.702A>G (p.Ala234=) c.*233A>G (n.*233A>G) c.*209A>G (n.*209A>G) c.*152A>G (n.*152A>G) c.912A>G (p.Ala304=) c.645A>G (p.Ala215=) c.639A>G (p.Ala213=) c.642A>G (p.Ala214=) c.699A>G (p.Ala233=) c.257A>G c.909A>G (p.Ala303=) c.768A>G (p.Ala256=) c.765A>G (p.Ala255=) c.690A>G (p.Ala230=) c.738A>G (p.Ala246=) c.672A>G (p.Ala224=) c.834A>G (p.Ala278=) c.720A>G (p.Ala240=) c.717A>G (p.Ala239=) c.831A>G (p.Ala277=) c.687A>G (p.Ala229=) c.906A>G (p.Ala302=) c.816A>G (p.Ala272=) | |
| 22 | g.35761254T>G | CA514339651 | RBFOX2 | c.822A>C (p.Ala274=) c.702A>C (p.Ala234=) c.*233A>C (n.*233A>C) c.*209A>C (n.*209A>C) c.*152A>C (n.*152A>C) c.912A>C (p.Ala304=) c.645A>C (p.Ala215=) c.639A>C (p.Ala213=) c.642A>C (p.Ala214=) c.699A>C (p.Ala233=) c.257A>C c.909A>C (p.Ala303=) c.768A>C (p.Ala256=) c.765A>C (p.Ala255=) c.690A>C (p.Ala230=) c.738A>C (p.Ala246=) c.672A>C (p.Ala224=) c.834A>C (p.Ala278=) c.720A>C (p.Ala240=) c.717A>C (p.Ala239=) c.831A>C (p.Ala277=) c.687A>C (p.Ala229=) c.906A>C (p.Ala302=) c.816A>C (p.Ala272=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.35761254T= | CA2403556520 | RBFOX2 | c.822A= (p.Ala274=) c.702A= (p.Ala234=) c.*233A= (n.*233A=) c.*209A= (n.*209A=) c.*152A= (n.*152A=) c.912A= (p.Ala304=) c.645A= (p.Ala215=) c.639A= (p.Ala213=) c.642A= (p.Ala214=) c.699A= (p.Ala233=) c.257A= c.909A= (p.Ala303=) c.768A= (p.Ala256=) c.765A= (p.Ala255=) c.690A= (p.Ala230=) c.738A= (p.Ala246=) c.672A= (p.Ala224=) c.834A= (p.Ala278=) c.720A= (p.Ala240=) c.717A= (p.Ala239=) c.831A= (p.Ala277=) c.687A= (p.Ala229=) c.906A= (p.Ala302=) c.816A= (p.Ala272=) | |
| 22 | g.35761255G>A | CA411359013 | RBFOX2 | c.821C>T (p.Ala274Val) c.701C>T (p.Ala234Val) c.*232C>T (n.*232C>T) c.*208C>T (n.*208C>T) c.*151C>T (n.*151C>T) c.911C>T (p.Ala304Val) c.644C>T (p.Ala215Val) c.638C>T (p.Ala213Val) c.641C>T (p.Ala214Val) c.698C>T (p.Ala233Val) c.256C>T c.908C>T (p.Ala303Val) c.767C>T (p.Ala256Val) c.764C>T (p.Ala255Val) c.689C>T (p.Ala230Val) c.737C>T (p.Ala246Val) c.671C>T (p.Ala224Val) c.833C>T (p.Ala278Val) c.719C>T (p.Ala240Val) c.716C>T (p.Ala239Val) c.830C>T (p.Ala277Val) c.686C>T (p.Ala229Val) c.905C>T (p.Ala302Val) c.815C>T (p.Ala272Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.35761255G>C | CA411359011 | RBFOX2 | c.821C>G (p.Ala274Gly) c.701C>G (p.Ala234Gly) c.*232C>G (n.*232C>G) c.*208C>G (n.*208C>G) c.*151C>G (n.*151C>G) c.911C>G (p.Ala304Gly) c.644C>G (p.Ala215Gly) c.638C>G (p.Ala213Gly) c.641C>G (p.Ala214Gly) c.698C>G (p.Ala233Gly) c.256C>G c.908C>G (p.Ala303Gly) c.767C>G (p.Ala256Gly) c.764C>G (p.Ala255Gly) c.689C>G (p.Ala230Gly) c.737C>G (p.Ala246Gly) c.671C>G (p.Ala224Gly) c.833C>G (p.Ala278Gly) c.719C>G (p.Ala240Gly) c.716C>G (p.Ala239Gly) c.830C>G (p.Ala277Gly) c.686C>G (p.Ala229Gly) c.905C>G (p.Ala302Gly) c.815C>G (p.Ala272Gly) | |
| 22 | g.35761255G= | CA2403556521 | RBFOX2 | c.821C= (p.Ala274=) c.701C= (p.Ala234=) c.*232C= (n.*232C=) c.*208C= (n.*208C=) c.*151C= (n.*151C=) c.911C= (p.Ala304=) c.644C= (p.Ala215=) c.638C= (p.Ala213=) c.641C= (p.Ala214=) c.698C= (p.Ala233=) c.256C= c.908C= (p.Ala303=) c.767C= (p.Ala256=) c.764C= (p.Ala255=) c.689C= (p.Ala230=) c.737C= (p.Ala246=) c.671C= (p.Ala224=) c.833C= (p.Ala278=) c.719C= (p.Ala240=) c.716C= (p.Ala239=) c.830C= (p.Ala277=) c.686C= (p.Ala229=) c.905C= (p.Ala302=) c.815C= (p.Ala272=) | |
| 22 | g.35761255G>T | CA411359012 | RBFOX2 | c.821C>A (p.Ala274Glu) c.701C>A (p.Ala234Glu) c.*232C>A (n.*232C>A) c.*208C>A (n.*208C>A) c.*151C>A (n.*151C>A) c.911C>A (p.Ala304Glu) c.644C>A (p.Ala215Glu) c.638C>A (p.Ala213Glu) c.641C>A (p.Ala214Glu) c.698C>A (p.Ala233Glu) c.256C>A c.908C>A (p.Ala303Glu) c.767C>A (p.Ala256Glu) c.764C>A (p.Ala255Glu) c.689C>A (p.Ala230Glu) c.737C>A (p.Ala246Glu) c.671C>A (p.Ala224Glu) c.833C>A (p.Ala278Glu) c.719C>A (p.Ala240Glu) c.716C>A (p.Ala239Glu) c.830C>A (p.Ala277Glu) c.686C>A (p.Ala229Glu) c.905C>A (p.Ala302Glu) c.815C>A (p.Ala272Glu) | |
| 22 | g.35761256C>A | CA323545620 | RBFOX2 | c.820G>T (p.Ala274Ser) c.700G>T (p.Ala234Ser) c.*231G>T (n.*231G>T) c.*207G>T (n.*207G>T) c.*150G>T (n.*150G>T) c.910G>T (p.Ala304Ser) c.643G>T (p.Ala215Ser) c.637G>T (p.Ala213Ser) c.640G>T (p.Ala214Ser) c.697G>T (p.Ala233Ser) c.255G>T c.907G>T (p.Ala303Ser) c.766G>T (p.Ala256Ser) c.763G>T (p.Ala255Ser) c.688G>T (p.Ala230Ser) c.736G>T (p.Ala246Ser) c.670G>T (p.Ala224Ser) c.832G>T (p.Ala278Ser) c.718G>T (p.Ala240Ser) c.715G>T (p.Ala239Ser) c.829G>T (p.Ala277Ser) c.685G>T (p.Ala229Ser) c.904G>T (p.Ala302Ser) c.814G>T (p.Ala272Ser) | dbSNP |
| 22 | g.35761256C= | CA2403556522 | RBFOX2 | c.820G= (p.Ala274=) c.700G= (p.Ala234=) c.*231G= (n.*231G=) c.*207G= (n.*207G=) c.*150G= (n.*150G=) c.910G= (p.Ala304=) c.643G= (p.Ala215=) c.637G= (p.Ala213=) c.640G= (p.Ala214=) c.697G= (p.Ala233=) c.255G= c.907G= (p.Ala303=) c.766G= (p.Ala256=) c.763G= (p.Ala255=) c.688G= (p.Ala230=) c.736G= (p.Ala246=) c.670G= (p.Ala224=) c.832G= (p.Ala278=) c.718G= (p.Ala240=) c.715G= (p.Ala239=) c.829G= (p.Ala277=) c.685G= (p.Ala229=) c.904G= (p.Ala302=) c.814G= (p.Ala272=) | |
| 22 | g.35761256C>G | CA411359024 | RBFOX2 | c.820G>C (p.Ala274Pro) c.700G>C (p.Ala234Pro) c.*231G>C (n.*231G>C) c.*207G>C (n.*207G>C) c.*150G>C (n.*150G>C) c.910G>C (p.Ala304Pro) c.643G>C (p.Ala215Pro) c.637G>C (p.Ala213Pro) c.640G>C (p.Ala214Pro) c.697G>C (p.Ala233Pro) c.255G>C c.907G>C (p.Ala303Pro) c.766G>C (p.Ala256Pro) c.763G>C (p.Ala255Pro) c.688G>C (p.Ala230Pro) c.736G>C (p.Ala246Pro) c.670G>C (p.Ala224Pro) c.832G>C (p.Ala278Pro) c.718G>C (p.Ala240Pro) c.715G>C (p.Ala239Pro) c.829G>C (p.Ala277Pro) c.685G>C (p.Ala229Pro) c.904G>C (p.Ala302Pro) c.814G>C (p.Ala272Pro) | |
| 22 | g.35761256C>T | CA411359025 | RBFOX2 | c.820G>A (p.Ala274Thr) c.700G>A (p.Ala234Thr) c.*231G>A (n.*231G>A) c.*207G>A (n.*207G>A) c.*150G>A (n.*150G>A) c.910G>A (p.Ala304Thr) c.643G>A (p.Ala215Thr) c.637G>A (p.Ala213Thr) c.640G>A (p.Ala214Thr) c.697G>A (p.Ala233Thr) c.255G>A c.907G>A (p.Ala303Thr) c.766G>A (p.Ala256Thr) c.763G>A (p.Ala255Thr) c.688G>A (p.Ala230Thr) c.736G>A (p.Ala246Thr) c.670G>A (p.Ala224Thr) c.832G>A (p.Ala278Thr) c.718G>A (p.Ala240Thr) c.715G>A (p.Ala239Thr) c.829G>A (p.Ala277Thr) c.685G>A (p.Ala229Thr) c.904G>A (p.Ala302Thr) c.814G>A (p.Ala272Thr) | |
| 22 | g.35761257A= | CA2403556523 | RBFOX2 | c.819T= (p.Asp273=) c.699T= (p.Asp233=) c.*230T= (n.*230T=) c.*206T= (n.*206T=) c.*149T= (n.*149T=) c.909T= (p.Asp303=) c.642T= (p.Asp214=) c.636T= (p.Asp212=) c.639T= (p.Asp213=) c.696T= (p.Asp232=) c.254T= c.906T= (p.Asp302=) c.765T= (p.Asp255=) c.762T= (p.Asp254=) c.687T= (p.Asp229=) c.735T= (p.Asp245=) c.669T= (p.Asp223=) c.831T= (p.Asp277=) c.717T= (p.Asp239=) c.714T= (p.Asp238=) c.828T= (p.Asp276=) c.684T= (p.Asp228=) c.903T= (p.Asp301=) c.813T= (p.Asp271=) | |
| 22 | g.35761257A>C | CA10206825 | RBFOX2 | c.819T>G (p.Asp273Glu) c.699T>G (p.Asp233Glu) c.*230T>G (n.*230T>G) c.*206T>G (n.*206T>G) c.*149T>G (n.*149T>G) c.909T>G (p.Asp303Glu) c.642T>G (p.Asp214Glu) c.636T>G (p.Asp212Glu) c.639T>G (p.Asp213Glu) c.696T>G (p.Asp232Glu) c.254T>G c.906T>G (p.Asp302Glu) c.765T>G (p.Asp255Glu) c.762T>G (p.Asp254Glu) c.687T>G (p.Asp229Glu) c.735T>G (p.Asp245Glu) c.669T>G (p.Asp223Glu) c.831T>G (p.Asp277Glu) c.717T>G (p.Asp239Glu) c.714T>G (p.Asp238Glu) c.828T>G (p.Asp276Glu) c.684T>G (p.Asp228Glu) c.903T>G (p.Asp301Glu) c.813T>G (p.Asp271Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.35761257A>G | CA514339652 | RBFOX2 | c.819T>C (p.Asp273=) c.699T>C (p.Asp233=) c.*230T>C (n.*230T>C) c.*206T>C (n.*206T>C) c.*149T>C (n.*149T>C) c.909T>C (p.Asp303=) c.642T>C (p.Asp214=) c.636T>C (p.Asp212=) c.639T>C (p.Asp213=) c.696T>C (p.Asp232=) c.254T>C c.906T>C (p.Asp302=) c.765T>C (p.Asp255=) c.762T>C (p.Asp254=) c.687T>C (p.Asp229=) c.735T>C (p.Asp245=) c.669T>C (p.Asp223=) c.831T>C (p.Asp277=) c.717T>C (p.Asp239=) c.714T>C (p.Asp238=) c.828T>C (p.Asp276=) c.684T>C (p.Asp228=) c.903T>C (p.Asp301=) c.813T>C (p.Asp271=) | dbSNP |
| 22 | g.35761257A>T | CA411359029 | RBFOX2 | c.819T>A (p.Asp273Glu) c.699T>A (p.Asp233Glu) c.*230T>A (n.*230T>A) c.*206T>A (n.*206T>A) c.*149T>A (n.*149T>A) c.909T>A (p.Asp303Glu) c.642T>A (p.Asp214Glu) c.636T>A (p.Asp212Glu) c.639T>A (p.Asp213Glu) c.696T>A (p.Asp232Glu) c.254T>A c.906T>A (p.Asp302Glu) c.765T>A (p.Asp255Glu) c.762T>A (p.Asp254Glu) c.687T>A (p.Asp229Glu) c.735T>A (p.Asp245Glu) c.669T>A (p.Asp223Glu) c.831T>A (p.Asp277Glu) c.717T>A (p.Asp239Glu) c.714T>A (p.Asp238Glu) c.828T>A (p.Asp276Glu) c.684T>A (p.Asp228Glu) c.903T>A (p.Asp301Glu) c.813T>A (p.Asp271Glu) | |
| 22 | g.35761258T>A | CA411359035 | RBFOX2 | c.818A>T (p.Asp273Val) c.698A>T (p.Asp233Val) c.*229A>T (n.*229A>T) c.*205A>T (n.*205A>T) c.*148A>T (n.*148A>T) c.908A>T (p.Asp303Val) c.641A>T (p.Asp214Val) c.635A>T (p.Asp212Val) c.638A>T (p.Asp213Val) c.695A>T (p.Asp232Val) c.253A>T c.905A>T (p.Asp302Val) c.764A>T (p.Asp255Val) c.761A>T (p.Asp254Val) c.686A>T (p.Asp229Val) c.734A>T (p.Asp245Val) c.668A>T (p.Asp223Val) c.830A>T (p.Asp277Val) c.716A>T (p.Asp239Val) c.713A>T (p.Asp238Val) c.827A>T (p.Asp276Val) c.683A>T (p.Asp228Val) c.902A>T (p.Asp301Val) c.812A>T (p.Asp271Val) | |
| 22 | g.35761258T>C | CA411359039 | RBFOX2 | c.818A>G (p.Asp273Gly) c.698A>G (p.Asp233Gly) c.*229A>G (n.*229A>G) c.*205A>G (n.*205A>G) c.*148A>G (n.*148A>G) c.908A>G (p.Asp303Gly) c.641A>G (p.Asp214Gly) c.635A>G (p.Asp212Gly) c.638A>G (p.Asp213Gly) c.695A>G (p.Asp232Gly) c.253A>G c.905A>G (p.Asp302Gly) c.764A>G (p.Asp255Gly) c.761A>G (p.Asp254Gly) c.686A>G (p.Asp229Gly) c.734A>G (p.Asp245Gly) c.668A>G (p.Asp223Gly) c.830A>G (p.Asp277Gly) c.716A>G (p.Asp239Gly) c.713A>G (p.Asp238Gly) c.827A>G (p.Asp276Gly) c.683A>G (p.Asp228Gly) c.902A>G (p.Asp301Gly) c.812A>G (p.Asp271Gly) | gnomAD v4 |
| 22 | g.35761258T>G | CA411359043 | RBFOX2 | c.818A>C (p.Asp273Ala) c.698A>C (p.Asp233Ala) c.*229A>C (n.*229A>C) c.*205A>C (n.*205A>C) c.*148A>C (n.*148A>C) c.908A>C (p.Asp303Ala) c.641A>C (p.Asp214Ala) c.635A>C (p.Asp212Ala) c.638A>C (p.Asp213Ala) c.695A>C (p.Asp232Ala) c.253A>C c.905A>C (p.Asp302Ala) c.764A>C (p.Asp255Ala) c.761A>C (p.Asp254Ala) c.686A>C (p.Asp229Ala) c.734A>C (p.Asp245Ala) c.668A>C (p.Asp223Ala) c.830A>C (p.Asp277Ala) c.716A>C (p.Asp239Ala) c.713A>C (p.Asp238Ala) c.827A>C (p.Asp276Ala) c.683A>C (p.Asp228Ala) c.902A>C (p.Asp301Ala) c.812A>C (p.Asp271Ala) | |
| 22 | g.35761259C>A | CA411359045 | RBFOX2 | c.817G>T (p.Asp273Tyr) c.697G>T (p.Asp233Tyr) c.*228G>T (n.*228G>T) c.*204G>T (n.*204G>T) c.*147G>T (n.*147G>T) c.907G>T (p.Asp303Tyr) c.640G>T (p.Asp214Tyr) c.634G>T (p.Asp212Tyr) c.637G>T (p.Asp213Tyr) c.694G>T (p.Asp232Tyr) c.252G>T c.904G>T (p.Asp302Tyr) c.763G>T (p.Asp255Tyr) c.760G>T (p.Asp254Tyr) c.685G>T (p.Asp229Tyr) c.733G>T (p.Asp245Tyr) c.667G>T (p.Asp223Tyr) c.829G>T (p.Asp277Tyr) c.715G>T (p.Asp239Tyr) c.712G>T (p.Asp238Tyr) c.826G>T (p.Asp276Tyr) c.682G>T (p.Asp228Tyr) c.901G>T (p.Asp301Tyr) c.811G>T (p.Asp271Tyr) | |
| 22 | g.35761259C>G | CA411359046 | RBFOX2 | c.817G>C (p.Asp273His) c.697G>C (p.Asp233His) c.*228G>C (n.*228G>C) c.*204G>C (n.*204G>C) c.*147G>C (n.*147G>C) c.907G>C (p.Asp303His) c.640G>C (p.Asp214His) c.634G>C (p.Asp212His) c.637G>C (p.Asp213His) c.694G>C (p.Asp232His) c.252G>C c.904G>C (p.Asp302His) c.763G>C (p.Asp255His) c.760G>C (p.Asp254His) c.685G>C (p.Asp229His) c.733G>C (p.Asp245His) c.667G>C (p.Asp223His) c.829G>C (p.Asp277His) c.715G>C (p.Asp239His) c.712G>C (p.Asp238His) c.826G>C (p.Asp276His) c.682G>C (p.Asp228His) c.901G>C (p.Asp301His) c.811G>C (p.Asp271His) | |
| 22 | g.35761259C>T | CA411359047 | RBFOX2 | c.817G>A (p.Asp273Asn) c.697G>A (p.Asp233Asn) c.*228G>A (n.*228G>A) c.*204G>A (n.*204G>A) c.*147G>A (n.*147G>A) c.907G>A (p.Asp303Asn) c.640G>A (p.Asp214Asn) c.634G>A (p.Asp212Asn) c.637G>A (p.Asp213Asn) c.694G>A (p.Asp232Asn) c.252G>A c.904G>A (p.Asp302Asn) c.763G>A (p.Asp255Asn) c.760G>A (p.Asp254Asn) c.685G>A (p.Asp229Asn) c.733G>A (p.Asp245Asn) c.667G>A (p.Asp223Asn) c.829G>A (p.Asp277Asn) c.715G>A (p.Asp239Asn) c.712G>A (p.Asp238Asn) c.826G>A (p.Asp276Asn) c.682G>A (p.Asp228Asn) c.901G>A (p.Asp301Asn) c.811G>A (p.Asp271Asn) | |
| 22 | g.35761260A= | CA2403556524 | RBFOX2 | c.816T= (p.Asn272=) c.696T= (p.Asn232=) c.*227T= (n.*227T=) c.*203T= (n.*203T=) c.*146T= (n.*146T=) c.906T= (p.Asn302=) c.639T= (p.Asn213=) c.633T= (p.Asn211=) c.636T= (p.Asn212=) c.693T= (p.Asn231=) c.251T= c.903T= (p.Asn301=) c.762T= (p.Asn254=) c.759T= (p.Asn253=) c.684T= (p.Asn228=) c.732T= (p.Asn244=) c.666T= (p.Asn222=) c.828T= (p.Asn276=) c.714T= (p.Asn238=) c.711T= (p.Asn237=) c.825T= (p.Asn275=) c.681T= (p.Asn227=) c.900T= (p.Asn300=) c.810T= (p.Asn270=) | |
| 22 | g.35761260A>C | CA411359049 | RBFOX2 | c.816T>G (p.Asn272Lys) c.696T>G (p.Asn232Lys) c.*227T>G (n.*227T>G) c.*203T>G (n.*203T>G) c.*146T>G (n.*146T>G) c.906T>G (p.Asn302Lys) c.639T>G (p.Asn213Lys) c.633T>G (p.Asn211Lys) c.636T>G (p.Asn212Lys) c.693T>G (p.Asn231Lys) c.251T>G c.903T>G (p.Asn301Lys) c.762T>G (p.Asn254Lys) c.759T>G (p.Asn253Lys) c.684T>G (p.Asn228Lys) c.732T>G (p.Asn244Lys) c.666T>G (p.Asn222Lys) c.828T>G (p.Asn276Lys) c.714T>G (p.Asn238Lys) c.711T>G (p.Asn237Lys) c.825T>G (p.Asn275Lys) c.681T>G (p.Asn227Lys) c.900T>G (p.Asn300Lys) c.810T>G (p.Asn270Lys) | |
| 22 | g.35761260A>G | CA10206826 | RBFOX2 | c.816T>C (p.Asn272=) c.696T>C (p.Asn232=) c.*227T>C (n.*227T>C) c.*203T>C (n.*203T>C) c.*146T>C (n.*146T>C) c.906T>C (p.Asn302=) c.639T>C (p.Asn213=) c.633T>C (p.Asn211=) c.636T>C (p.Asn212=) c.693T>C (p.Asn231=) c.251T>C c.903T>C (p.Asn301=) c.762T>C (p.Asn254=) c.759T>C (p.Asn253=) c.684T>C (p.Asn228=) c.732T>C (p.Asn244=) c.666T>C (p.Asn222=) c.828T>C (p.Asn276=) c.714T>C (p.Asn238=) c.711T>C (p.Asn237=) c.825T>C (p.Asn275=) c.681T>C (p.Asn227=) c.900T>C (p.Asn300=) c.810T>C (p.Asn270=) | dbSNP ExAC gnomAD v2 |