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.134415061G>A | CA414713202 | PHF6 | c.*694G>A (n.*694G>A) c.673G>A (p.Glu225Lys) c.775G>A (p.Glu259Lys) c.*387G>A (n.*387G>A) c.778G>A (p.Glu260Lys) | |
| X | g.134415061G>C | CA414713203 | PHF6 | c.*694G>C (n.*694G>C) c.673G>C (p.Glu225Gln) c.775G>C (p.Glu259Gln) c.*387G>C (n.*387G>C) c.778G>C (p.Glu260Gln) | |
| X | g.134415061G>T | CA414713204 | PHF6 | c.*694G>T (n.*694G>T) c.673G>T (p.Glu225Ter) c.775G>T (p.Glu259Ter) c.*387G>T (n.*387G>T) c.778G>T (p.Glu260Ter) | |
| X | g.134415062A>C | CA414713207 | PHF6 | c.*695A>C (n.*695A>C) c.674A>C (p.Glu225Ala) c.776A>C (p.Glu259Ala) c.*388A>C (n.*388A>C) c.779A>C (p.Glu260Ala) | |
| X | g.134415062A>G | CA414713205 | PHF6 | c.*695A>G (n.*695A>G) c.674A>G (p.Glu225Gly) c.776A>G (p.Glu259Gly) c.*388A>G (n.*388A>G) c.779A>G (p.Glu260Gly) | |
| X | g.134415062A>T | CA414713206 | PHF6 | c.*695A>T (n.*695A>T) c.674A>T (p.Glu225Val) c.776A>T (p.Glu259Val) c.*388A>T (n.*388A>T) c.779A>T (p.Glu260Val) | |
| X | g.134415063A>C | CA414713208 | PHF6 | c.*696A>C (n.*696A>C) c.675A>C (p.Glu225Asp) c.777A>C (p.Glu259Asp) c.*389A>C (n.*389A>C) c.780A>C (p.Glu260Asp) | |
| X | g.134415063A>G | CA518651898 | PHF6 | c.*696A>G (n.*696A>G) c.675A>G (p.Glu225=) c.777A>G (p.Glu259=) c.*389A>G (n.*389A>G) c.780A>G (p.Glu260=) | |
| X | g.134415063A>T | CA414713209 | PHF6 | c.*696A>T (n.*696A>T) c.675A>T (p.Glu225Asp) c.777A>T (p.Glu259Asp) c.*389A>T (n.*389A>T) c.780A>T (p.Glu260Asp) | |
| X | g.134415064T>A | CA414713210 | PHF6 | c.*697T>A (n.*697T>A) c.676T>A (p.Phe226Ile) c.778T>A (p.Phe260Ile) c.*390T>A (n.*390T>A) c.781T>A (p.Phe261Ile) | |
| X | g.134415064T>C | CA414713211 | PHF6 | c.*697T>C (n.*697T>C) c.676T>C (p.Phe226Leu) c.778T>C (p.Phe260Leu) c.*390T>C (n.*390T>C) c.781T>C (p.Phe261Leu) | |
| X | g.134415064T>G | CA414713212 | PHF6 | c.*697T>G (n.*697T>G) c.676T>G (p.Phe226Val) c.778T>G (p.Phe260Val) c.*390T>G (n.*390T>G) c.781T>G (p.Phe261Val) | |
| X | g.134415066_134415075del | CA645602537 | PHF6 | c.*699_*708del (n.*699_*708del) c.678_687del (p.Phe226LeufsTer16) c.780_789del (p.Phe260LeufsTer16) c.*392_*401del (n.*392_*401del) c.783_792del (p.Phe261LeufsTer16) c.783_792del (p.Phe261LeufsTer29) | COSMIC COSMIC COSMIC |
| X | g.134415065T>A | CA414713213 | PHF6 | c.*698T>A (n.*698T>A) c.677T>A (p.Phe226Tyr) c.779T>A (p.Phe260Tyr) c.*391T>A (n.*391T>A) c.782T>A (p.Phe261Tyr) | |
| X | g.134415065T>C | CA414713215 | PHF6 | c.*698T>C (n.*698T>C) c.677T>C (p.Phe226Ser) c.779T>C (p.Phe260Ser) c.*391T>C (n.*391T>C) c.782T>C (p.Phe261Ser) | |
| X | g.134415065T>G | CA414713214 | PHF6 | c.*698T>G (n.*698T>G) c.677T>G (p.Phe226Cys) c.779T>G (p.Phe260Cys) c.*391T>G (n.*391T>G) c.782T>G (p.Phe261Cys) | |
| X | g.134415065_134415066insCGGGAGGATCC | CA645602538 | PHF6 | c.*698_*699insCGGGAGGATCC (n.*698_*699insCGGGAGGATCC) c.677_678insCGGGAGGATCC (p.Asp228ArgfsTer21) c.779_780insCGGGAGGATCC (p.Asp262ArgfsTer21) c.*391_*392insCGGGAGGATCC (n.*391_*392insCGGGAGGATCC) c.782_783insCGGGAGGATCC (p.Asp263ArgfsTer21) c.782_783insCGGGAGGATCC (p.Asp263ArgfsTer?) | COSMIC |
| X | g.134415066T>A | CA414713216 | PHF6 | c.*699T>A (n.*699T>A) c.678T>A (p.Phe226Leu) c.780T>A (p.Phe260Leu) c.*392T>A (n.*392T>A) c.783T>A (p.Phe261Leu) | |
| X | g.134415066T>C | CA518651905 | PHF6 | c.*699T>C (n.*699T>C) c.678T>C (p.Phe226=) c.780T>C (p.Phe260=) c.*392T>C (n.*392T>C) c.783T>C (p.Phe261=) | |
| X | g.134415066T>G | CA414713217 | PHF6 | c.*699T>G (n.*699T>G) c.678T>G (p.Phe226Leu) c.780T>G (p.Phe260Leu) c.*392T>G (n.*392T>G) c.783T>G (p.Phe261Leu) | |
| X | g.134415067G>A | CA414713218 | PHF6 | c.*700G>A (n.*700G>A) c.679G>A (p.Gly227Arg) c.781G>A (p.Gly261Arg) c.*393G>A (n.*393G>A) c.784G>A (p.Gly262Arg) | |
| X | g.134415067G>C | CA414713219 | PHF6 | c.*700G>C (n.*700G>C) c.679G>C (p.Gly227Arg) c.781G>C (p.Gly261Arg) c.*393G>C (n.*393G>C) c.784G>C (p.Gly262Arg) | |
| X | g.134415067G>T | CA414713220 | PHF6 | c.*700G>T (n.*700G>T) c.679G>T (p.Gly227Ter) c.781G>T (p.Gly261Ter) c.*393G>T (n.*393G>T) c.784G>T (p.Gly262Ter) | |
| X | g.134415068del | CA2579706034 | PHF6 | c.*701del (n.*701del) c.680del (p.Gly227GlufsTer18) c.782del (p.Gly261GlufsTer18) c.*394del (n.*394del) c.785del (p.Gly262GlufsTer18) c.785del (p.Gly262GlufsTer?) | |
| X | g.134415068G>A | CA414713221 | PHF6 | c.*701G>A (n.*701G>A) c.680G>A (p.Gly227Glu) c.782G>A (p.Gly261Glu) c.*394G>A (n.*394G>A) c.785G>A (p.Gly262Glu) | |
| X | g.134415068G>C | CA414713222 | PHF6 | c.*701G>C (n.*701G>C) c.680G>C (p.Gly227Ala) c.782G>C (p.Gly261Ala) c.*394G>C (n.*394G>C) c.785G>C (p.Gly262Ala) | |
| X | g.134415068G>T | CA414713223 | PHF6 | c.*701G>T (n.*701G>T) c.680G>T (p.Gly227Val) c.782G>T (p.Gly261Val) c.*394G>T (n.*394G>T) c.785G>T (p.Gly262Val) | |
| X | g.134415069A>C | CA518651910 | PHF6 | c.*702A>C (n.*702A>C) c.681A>C (p.Gly227=) c.783A>C (p.Gly261=) c.*395A>C (n.*395A>C) c.786A>C (p.Gly262=) | |
| X | g.134415069A>G | CA518651912 | PHF6 | c.*702A>G (n.*702A>G) c.681A>G (p.Gly227=) c.783A>G (p.Gly261=) c.*395A>G (n.*395A>G) c.786A>G (p.Gly262=) | dbSNP |
| X | g.134415069A>T | CA518651914 | PHF6 | c.*702A>T (n.*702A>T) c.681A>T (p.Gly227=) c.783A>T (p.Gly261=) c.*395A>T (n.*395A>T) c.786A>T (p.Gly262=) | |
| X | g.134415070G>A | CA414713224 | PHF6 | c.*703G>A (n.*703G>A) c.682G>A (p.Asp228Asn) c.784G>A (p.Asp262Asn) c.*396G>A (n.*396G>A) c.787G>A (p.Asp263Asn) | |
| X | g.134415070G>C | CA414713225 | PHF6 | c.*703G>C (n.*703G>C) c.682G>C (p.Asp228His) c.784G>C (p.Asp262His) c.*396G>C (n.*396G>C) c.787G>C (p.Asp263His) | |
| X | g.134415070G>T | CA414713226 | PHF6 | c.*703G>T (n.*703G>T) c.682G>T (p.Asp228Tyr) c.784G>T (p.Asp262Tyr) c.*396G>T (n.*396G>T) c.787G>T (p.Asp263Tyr) | |
| X | g.134415071A>C | CA414713228 | PHF6 | c.*704A>C (n.*704A>C) c.683A>C (p.Asp228Ala) c.785A>C (p.Asp262Ala) c.*397A>C (n.*397A>C) c.788A>C (p.Asp263Ala) | |
| X | g.134415071A>G | CA414713229 | PHF6 | c.*704A>G (n.*704A>G) c.683A>G (p.Asp228Gly) c.785A>G (p.Asp262Gly) c.*397A>G (n.*397A>G) c.788A>G (p.Asp263Gly) | |
| X | g.134415071A>T | CA414713227 | PHF6 | c.*704A>T (n.*704A>T) c.683A>T (p.Asp228Val) c.785A>T (p.Asp262Val) c.*397A>T (n.*397A>T) c.788A>T (p.Asp263Val) | COSMIC COSMIC COSMIC |
| X | g.134415072C>A | CA414713231 | PHF6 | c.*705C>A (n.*705C>A) c.684C>A (p.Asp228Glu) c.786C>A (p.Asp262Glu) c.*398C>A (n.*398C>A) c.789C>A (p.Asp263Glu) | |
| X | g.134415072C= | CA2459717803 | PHF6 | c.*705C= (n.*705C=) c.684C= (p.Asp228=) c.786C= (p.Asp262=) c.*398C= (n.*398C=) c.789C= (p.Asp263=) | |
| X | g.134415072C>G | CA414713230 | PHF6 | c.*705C>G (n.*705C>G) c.684C>G (p.Asp228Glu) c.786C>G (p.Asp262Glu) c.*398C>G (n.*398C>G) c.789C>G (p.Asp263Glu) | |
| X | g.134415072C>T | CA336029410 | PHF6 | c.*705C>T (n.*705C>T) c.684C>T (p.Asp228=) c.786C>T (p.Asp262=) c.*398C>T (n.*398C>T) c.789C>T (p.Asp263=) | dbSNP gnomAD v4 |
| X | g.134415073T>A | CA414713232 | PHF6 | c.*706T>A (n.*706T>A) c.685T>A (p.Phe229Ile) c.787T>A (p.Phe263Ile) c.*399T>A (n.*399T>A) c.790T>A (p.Phe264Ile) | |
| X | g.134415073T>C | CA414713233 | PHF6 | c.*706T>C (n.*706T>C) c.685T>C (p.Phe229Leu) c.787T>C (p.Phe263Leu) c.*399T>C (n.*399T>C) c.790T>C (p.Phe264Leu) | |
| X | g.134415073T>G | CA414713234 | PHF6 | c.*706T>G (n.*706T>G) c.685T>G (p.Phe229Val) c.787T>G (p.Phe263Val) c.*399T>G (n.*399T>G) c.790T>G (p.Phe264Val) | |
| X | g.134415075dup | CA518651921 | PHF6 | c.*708dup (n.*708dup) c.687dup (p.Asp230Ter) c.789dup (p.Asp264Ter) c.*401dup (n.*401dup) c.792dup (p.Asp265Ter) | COSMIC COSMIC |
| X | g.134415074T>A | CA414713235 | PHF6 | c.*707T>A (n.*707T>A) c.686T>A (p.Phe229Tyr) c.788T>A (p.Phe263Tyr) c.*400T>A (n.*400T>A) c.791T>A (p.Phe264Tyr) | |
| X | g.134415074T>C | CA414713236 | PHF6 | c.*707T>C (n.*707T>C) c.686T>C (p.Phe229Ser) c.788T>C (p.Phe263Ser) c.*400T>C (n.*400T>C) c.791T>C (p.Phe264Ser) | |
| X | g.134415074T>G | CA414713237 | PHF6 | c.*707T>G (n.*707T>G) c.686T>G (p.Phe229Cys) c.788T>G (p.Phe263Cys) c.*400T>G (n.*400T>G) c.791T>G (p.Phe264Cys) | |
| X | g.134415074_134415075insCCGTC | CA645602539 | PHF6 | c.*707_*708insCCGTC (n.*707_*708insCCGTC) c.686_687insCCGTC (p.Asp230ArgfsTer17) c.788_789insCCGTC (p.Asp264ArgfsTer17) c.*400_*401insCCGTC (n.*400_*401insCCGTC) c.791_792insCCGTC (p.Asp265ArgfsTer17) c.791_792insCCGTC (p.Asp265ArgfsTer30) | COSMIC |
| X | g.134415075T>A | CA414713238 | PHF6 | c.*708T>A (n.*708T>A) c.687T>A (p.Phe229Leu) c.789T>A (p.Phe263Leu) c.*401T>A (n.*401T>A) c.792T>A (p.Phe264Leu) | |
| X | g.134415075T>C | CA518651927 | PHF6 | c.*708T>C (n.*708T>C) c.687T>C (p.Phe229=) c.789T>C (p.Phe263=) c.*401T>C (n.*401T>C) c.792T>C (p.Phe264=) |