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 |
|---|---|---|---|---|---|
| 9 | g.127666206G>A | CA303075 | STXBP1 | c.662G>A (p.Arg221Gln) c.704G>A (p.Arg235Gln) c.*346G>A (n.*346G>A) c.*1568G>A (n.*1568G>A) c.646G>A n.540G>A c.695G>A (p.Arg232Gln) | ClinVar dbSNP COSMIC COSMIC |
| 9 | g.127666206G>C | CA374933880 | STXBP1 | c.662G>C (p.Arg221Pro) c.704G>C (p.Arg235Pro) c.*346G>C (n.*346G>C) c.*1568G>C (n.*1568G>C) c.646G>C n.540G>C c.695G>C (p.Arg232Pro) | COSMIC COSMIC |
| 9 | g.127666206G= | CA1879911580 | STXBP1 | c.662G= (p.Arg221=) c.704G= (p.Arg235=) c.*346G= (n.*346G=) c.*1568G= (n.*1568G=) c.646G= n.540G= c.695G= (p.Arg232=) | |
| 9 | g.127666206G>T | CA374933878 | STXBP1 | c.662G>T (p.Arg221Leu) c.704G>T (p.Arg235Leu) c.*346G>T (n.*346G>T) c.*1568G>T (n.*1568G>T) c.646G>T n.540G>T c.695G>T (p.Arg232Leu) | |
| 9 | g.127666206_127666207insGG | CA1139661187 | STXBP1 | c.662_663insGG (p.Gly222GlufsTer13) c.704_705insGG (p.Gly236GlufsTer13) c.*346_*347insGG (n.*346_*347insGG) c.*1568_*1569insGG (n.*1568_*1569insGG) c.646_647insGG n.540_541insGG c.695_696insGG (p.Gly233GlufsTer13) | ClinVar dbSNP |
| 9 | g.127666207A>C | CA467225594 | STXBP1 | c.663A>C (p.Arg221=) c.705A>C (p.Arg235=) c.*347A>C (n.*347A>C) c.*1569A>C (n.*1569A>C) c.647A>C n.541A>C c.696A>C (p.Arg232=) | |
| 9 | g.127666207A>G | CA467225596 | STXBP1 | c.663A>G (p.Arg221=) c.705A>G (p.Arg235=) c.*347A>G (n.*347A>G) c.*1569A>G (n.*1569A>G) c.647A>G n.541A>G c.696A>G (p.Arg232=) | |
| 9 | g.127666207A>T | CA467225598 | STXBP1 | c.663A>T (p.Arg221=) c.705A>T (p.Arg235=) c.*347A>T (n.*347A>T) c.*1569A>T (n.*1569A>T) c.647A>T n.541A>T c.696A>T (p.Arg232=) | |
| 9 | g.127666208G>A | CA374933883 | STXBP1 | c.664G>A (p.Gly222Ser) c.706G>A (p.Gly236Ser) c.*348G>A (n.*348G>A) c.*1570G>A (n.*1570G>A) c.648G>A n.542G>A c.697G>A (p.Gly233Ser) | |
| 9 | g.127666208G>C | CA374933889 | STXBP1 | c.664G>C (p.Gly222Arg) c.706G>C (p.Gly236Arg) c.*348G>C (n.*348G>C) c.*1570G>C (n.*1570G>C) c.648G>C n.542G>C c.697G>C (p.Gly233Arg) | |
| 9 | g.127666208G>T | CA374933886 | STXBP1 | c.664G>T (p.Gly222Cys) c.706G>T (p.Gly236Cys) c.*348G>T (n.*348G>T) c.*1570G>T (n.*1570G>T) c.648G>T n.542G>T c.697G>T (p.Gly233Cys) | |
| 9 | g.127666209G>A | CA374933892 | STXBP1 | c.665G>A (p.Gly222Asp) c.707G>A (p.Gly236Asp) c.*349G>A (n.*349G>A) c.*1571G>A (n.*1571G>A) c.649G>A n.543G>A c.698G>A (p.Gly233Asp) | ClinVar dbSNP |
| 9 | g.127666209G>C | CA374933898 | STXBP1 | c.665G>C (p.Gly222Ala) c.707G>C (p.Gly236Ala) c.*349G>C (n.*349G>C) c.*1571G>C (n.*1571G>C) c.649G>C n.543G>C c.698G>C (p.Gly233Ala) | |
| 9 | g.127666209G= | CA1879911592 | STXBP1 | c.665G= (p.Gly222=) c.707G= (p.Gly236=) c.*349G= (n.*349G=) c.*1571G= (n.*1571G=) c.649G= n.543G= c.698G= (p.Gly233=) | |
| 9 | g.127666209G>T | CA374933895 | STXBP1 | c.665G>T (p.Gly222Val) c.707G>T (p.Gly236Val) c.*349G>T (n.*349G>T) c.*1571G>T (n.*1571G>T) c.649G>T n.543G>T c.698G>T (p.Gly233Val) | |
| 9 | g.127666209_127666216delinsGCTTTGAC | CA1879911590 | STXBP1 | c.665_672delinsGCTTTGAC (p.Gly222=) c.707_714delinsGCTTTGAC (p.Gly236=) c.*349_*356delinsGCTTTGAC (n.*349_*356delinsGCTTTGAC) c.*1571_*1578delinsGCTTTGAC (n.*1571_*1578delinsGCTTTGAC) c.649_656delinsGCTTTGAC n.543_550delinsGCTTTGAC c.698_705delinsGCTTTGAC (p.Gly233=) | |
| 9 | g.127666210C>A | CA467225618 | STXBP1 | c.666C>A (p.Gly222=) c.708C>A (p.Gly236=) c.*350C>A (n.*350C>A) c.*1572C>A (n.*1572C>A) c.650C>A n.544C>A c.699C>A (p.Gly233=) | |
| 9 | g.127666210C= | CA1879911607 | STXBP1 | c.666C= (p.Gly222=) c.708C= (p.Gly236=) c.*350C= (n.*350C=) c.*1572C= (n.*1572C=) c.650C= n.544C= c.699C= (p.Gly233=) | |
| 9 | g.127666210C>G | CA467225621 | STXBP1 | c.666C>G (p.Gly222=) c.708C>G (p.Gly236=) c.*350C>G (n.*350C>G) c.*1572C>G (n.*1572C>G) c.650C>G n.544C>G c.699C>G (p.Gly233=) | |
| 9 | g.127666210C>T | CA10629042 | STXBP1 | c.666C>T (p.Gly222=) c.708C>T (p.Gly236=) c.*350C>T (n.*350C>T) c.*1572C>T (n.*1572C>T) c.650C>T n.544C>T c.699C>T (p.Gly233=) | dbSNP gnomAD v4 |
| 9 | g.127666211_127666217del | CA16618739 | STXBP1 | c.667_673del (p.Phe223ProfsTer9) c.709_715del (p.Phe237ProfsTer9) c.*351_*357del (n.*351_*357del) c.*1573_*1579del (n.*1573_*1579del) c.651_657del n.545_551del c.700_706del (p.Phe234ProfsTer9) | ClinVar dbSNP |
| 9 | g.127666211T>A | CA374933902 | STXBP1 | c.667T>A (p.Phe223Ile) c.709T>A (p.Phe237Ile) c.*351T>A (n.*351T>A) c.*1573T>A (n.*1573T>A) c.651T>A n.545T>A c.700T>A (p.Phe234Ile) | |
| 9 | g.127666211T>C | CA374933904 | STXBP1 | c.667T>C (p.Phe223Leu) c.709T>C (p.Phe237Leu) c.*351T>C (n.*351T>C) c.*1573T>C (n.*1573T>C) c.651T>C n.545T>C c.700T>C (p.Phe234Leu) | |
| 9 | g.127666211T>G | CA374933906 | STXBP1 | c.667T>G (p.Phe223Val) c.709T>G (p.Phe237Val) c.*351T>G (n.*351T>G) c.*1573T>G (n.*1573T>G) c.651T>G n.545T>G c.700T>G (p.Phe234Val) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127666211T= | CA1879911612 | STXBP1 | c.667T= (p.Phe223=) c.709T= (p.Phe237=) c.*351T= (n.*351T=) c.*1573T= (n.*1573T=) c.651T= n.545T= c.700T= (p.Phe234=) | |
| 9 | g.127666212T>A | CA374933909 | STXBP1 | c.668T>A (p.Phe223Tyr) c.710T>A (p.Phe237Tyr) c.*352T>A (n.*352T>A) c.*1574T>A (n.*1574T>A) c.652T>A n.546T>A c.701T>A (p.Phe234Tyr) | |
| 9 | g.127666212T>C | CA374933912 | STXBP1 | c.668T>C (p.Phe223Ser) c.710T>C (p.Phe237Ser) c.*352T>C (n.*352T>C) c.*1574T>C (n.*1574T>C) c.652T>C n.546T>C c.701T>C (p.Phe234Ser) | |
| 9 | g.127666212T>G | CA374933915 | STXBP1 | c.668T>G (p.Phe223Cys) c.710T>G (p.Phe237Cys) c.*352T>G (n.*352T>G) c.*1574T>G (n.*1574T>G) c.652T>G n.546T>G c.701T>G (p.Phe234Cys) | |
| 9 | g.127666213T>A | CA374933916 | STXBP1 | c.669T>A (p.Phe223Leu) c.711T>A (p.Phe237Leu) c.*353T>A (n.*353T>A) c.*1575T>A (n.*1575T>A) c.653T>A n.547T>A c.702T>A (p.Phe234Leu) | |
| 9 | g.127666213T>C | CA467225651 | STXBP1 | c.669T>C (p.Phe223=) c.711T>C (p.Phe237=) c.*353T>C (n.*353T>C) c.*1575T>C (n.*1575T>C) c.653T>C n.547T>C c.702T>C (p.Phe234=) | |
| 9 | g.127666213T>G | CA374933917 | STXBP1 | c.669T>G (p.Phe223Leu) c.711T>G (p.Phe237Leu) c.*353T>G (n.*353T>G) c.*1575T>G (n.*1575T>G) c.653T>G n.547T>G c.702T>G (p.Phe234Leu) | |
| 9 | g.127666214G>A | CA374933920 | STXBP1 | c.670G>A (p.Asp224Asn) c.712G>A (p.Asp238Asn) c.*354G>A (n.*354G>A) c.*1576G>A (n.*1576G>A) c.654G>A n.548G>A c.703G>A (p.Asp235Asn) | |
| 9 | g.127666214G>C | CA374933922 | STXBP1 | c.670G>C (p.Asp224His) c.712G>C (p.Asp238His) c.*354G>C (n.*354G>C) c.*1576G>C (n.*1576G>C) c.654G>C n.548G>C c.703G>C (p.Asp235His) | COSMIC COSMIC |
| 9 | g.127666214G>T | CA374933925 | STXBP1 | c.670G>T (p.Asp224Tyr) c.712G>T (p.Asp238Tyr) c.*354G>T (n.*354G>T) c.*1576G>T (n.*1576G>T) c.654G>T n.548G>T c.703G>T (p.Asp235Tyr) | COSMIC COSMIC |
| 9 | g.127666215A>C | CA374933929 | STXBP1 | c.671A>C (p.Asp224Ala) c.713A>C (p.Asp238Ala) c.*355A>C (n.*355A>C) c.*1577A>C (n.*1577A>C) c.655A>C n.549A>C c.704A>C (p.Asp235Ala) | |
| 9 | g.127666215A>G | CA374933934 | STXBP1 | c.671A>G (p.Asp224Gly) c.713A>G (p.Asp238Gly) c.*355A>G (n.*355A>G) c.*1577A>G (n.*1577A>G) c.655A>G n.549A>G c.704A>G (p.Asp235Gly) | |
| 9 | g.127666215A>T | CA374933931 | STXBP1 | c.671A>T (p.Asp224Val) c.713A>T (p.Asp238Val) c.*355A>T (n.*355A>T) c.*1577A>T (n.*1577A>T) c.655A>T n.549A>T c.704A>T (p.Asp235Val) | |
| 9 | g.127666216C>A | CA173644 | STXBP1 | c.672C>A (p.Asp224Glu) c.714C>A (p.Asp238Glu) c.*356C>A (n.*356C>A) c.*1578C>A (n.*1578C>A) c.656C>A n.550C>A c.705C>A (p.Asp235Glu) | ClinVar dbSNP |
| 9 | g.127666216C= | CA1879911617 | STXBP1 | c.672C= (p.Asp224=) c.714C= (p.Asp238=) c.*356C= (n.*356C=) c.*1578C= (n.*1578C=) c.656C= n.550C= c.705C= (p.Asp235=) | |
| 9 | g.127666216C>G | CA374933939 | STXBP1 | c.672C>G (p.Asp224Glu) c.714C>G (p.Asp238Glu) c.*356C>G (n.*356C>G) c.*1578C>G (n.*1578C>G) c.656C>G n.550C>G c.705C>G (p.Asp235Glu) | |
| 9 | g.127666216C>T | CA467225671 | STXBP1 | c.672C>T (p.Asp224=) c.714C>T (p.Asp238=) c.*356C>T (n.*356C>T) c.*1578C>T (n.*1578C>T) c.656C>T n.550C>T c.705C>T (p.Asp235=) | gnomAD v4 |
| 9 | g.127666219del | CA658773357 | STXBP1 | c.675del (p.Ser226AlafsTer8) c.717del (p.Ser240AlafsTer8) c.*359del (n.*359del) c.*1581del (n.*1581del) c.659del n.553del c.708del (p.Ser237AlafsTer8) | |
| 9 | g.127666217C>A | CA374933941 | STXBP1 | c.673C>A (p.Pro225Thr) c.715C>A (p.Pro239Thr) c.*357C>A (n.*357C>A) c.*1579C>A (n.*1579C>A) c.657C>A n.551C>A c.706C>A (p.Pro236Thr) | |
| 9 | g.127666217C>G | CA374933943 | STXBP1 | c.673C>G (p.Pro225Ala) c.715C>G (p.Pro239Ala) c.*357C>G (n.*357C>G) c.*1579C>G (n.*1579C>G) c.657C>G n.551C>G c.706C>G (p.Pro236Ala) | |
| 9 | g.127666217C>T | CA374933944 | STXBP1 | c.673C>T (p.Pro225Ser) c.715C>T (p.Pro239Ser) c.*357C>T (n.*357C>T) c.*1579C>T (n.*1579C>T) c.657C>T n.551C>T c.706C>T (p.Pro236Ser) | |
| 9 | g.127666218C>A | CA374933946 | STXBP1 | c.674C>A (p.Pro225His) c.716C>A (p.Pro239His) c.*358C>A (n.*358C>A) c.*1580C>A (n.*1580C>A) c.658C>A n.552C>A c.707C>A (p.Pro236His) | |
| 9 | g.127666218C>G | CA374933948 | STXBP1 | c.674C>G (p.Pro225Arg) c.716C>G (p.Pro239Arg) c.*358C>G (n.*358C>G) c.*1580C>G (n.*1580C>G) c.658C>G n.552C>G c.707C>G (p.Pro236Arg) | |
| 9 | g.127666218C>T | CA374933950 | STXBP1 | c.674C>T (p.Pro225Leu) c.716C>T (p.Pro239Leu) c.*358C>T (n.*358C>T) c.*1580C>T (n.*1580C>T) c.658C>T n.552C>T c.707C>T (p.Pro236Leu) | |
| 9 | g.127666219C>A | CA467225681 | STXBP1 | c.675C>A (p.Pro225=) c.717C>A (p.Pro239=) c.*359C>A (n.*359C>A) c.*1581C>A (n.*1581C>A) c.659C>A n.553C>A c.708C>A (p.Pro236=) | |
| 9 | g.127666219C= | CA1879911623 | STXBP1 | c.675C= (p.Pro225=) c.717C= (p.Pro239=) c.*359C= (n.*359C=) c.*1581C= (n.*1581C=) c.659C= n.553C= c.708C= (p.Pro236=) |