| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.134415055A= | CA2459717802 | PHF6 | c.*688A= (n.*688A=) c.667A= (p.Arg223=) c.769A= (p.Arg257=) c.*381A= (n.*381A=) c.772A= (p.Arg258=) | |
| X | g.134415055A>C | CA518651877 | PHF6 | c.*688A>C (n.*688A>C) c.667A>C (p.Arg223=) c.769A>C (p.Arg257=) c.*381A>C (n.*381A>C) c.772A>C (p.Arg258=) | |
| X | g.134415055A>G | CA121340 | PHF6 | c.*688A>G (n.*688A>G) c.667A>G (p.Arg223Gly) c.769A>G (p.Arg257Gly) c.*381A>G (n.*381A>G) c.772A>G (p.Arg258Gly) | ClinVar dbSNP |
| X | g.134415055A>T | CA414713190 | PHF6 | c.*688A>T (n.*688A>T) c.667A>T (p.Arg223Ter) c.769A>T (p.Arg257Ter) c.*381A>T (n.*381A>T) c.772A>T (p.Arg258Ter) | |
| X | g.134415056G>A | CA414713191 | PHF6 | c.*689G>A (n.*689G>A) c.668G>A (p.Arg223Lys) c.770G>A (p.Arg257Lys) c.*382G>A (n.*382G>A) c.773G>A (p.Arg258Lys) | |
| X | g.134415056G>C | CA414713192 | PHF6 | c.*689G>C (n.*689G>C) c.668G>C (p.Arg223Thr) c.770G>C (p.Arg257Thr) c.*382G>C (n.*382G>C) c.773G>C (p.Arg258Thr) | |
| X | g.134415056G>T | CA414713193 | PHF6 | c.*689G>T (n.*689G>T) c.668G>T (p.Arg223Ile) c.770G>T (p.Arg257Ile) c.*382G>T (n.*382G>T) c.773G>T (p.Arg258Ile) | |
| X | g.134415057A>C | CA414713194 | PHF6 | c.*690A>C (n.*690A>C) c.669A>C (p.Arg223Ser) c.771A>C (p.Arg257Ser) c.*383A>C (n.*383A>C) c.774A>C (p.Arg258Ser) | |
| X | g.134415057A>G | CA518651884 | PHF6 | c.*690A>G (n.*690A>G) c.669A>G (p.Arg223=) c.771A>G (p.Arg257=) c.*383A>G (n.*383A>G) c.774A>G (p.Arg258=) | |
| X | g.134415057A>T | CA414713195 | PHF6 | c.*690A>T (n.*690A>T) c.669A>T (p.Arg223Ser) c.771A>T (p.Arg257Ser) c.*383A>T (n.*383A>T) c.774A>T (p.Arg258Ser) | |
| X | g.134415058G>A | CA414713196 | PHF6 | c.*691G>A (n.*691G>A) c.670G>A (p.Ala224Thr) c.772G>A (p.Ala258Thr) c.*384G>A (n.*384G>A) c.775G>A (p.Ala259Thr) | |
| X | g.134415058G>C | CA414713198 | PHF6 | c.*691G>C (n.*691G>C) c.670G>C (p.Ala224Pro) c.772G>C (p.Ala258Pro) c.*384G>C (n.*384G>C) c.775G>C (p.Ala259Pro) | |
| X | g.134415058G>T | CA414713197 | PHF6 | c.*691G>T (n.*691G>T) c.670G>T (p.Ala224Ser) c.772G>T (p.Ala258Ser) c.*384G>T (n.*384G>T) c.775G>T (p.Ala259Ser) | |
| X | g.134415059C>A | CA414713199 | PHF6 | c.*692C>A (n.*692C>A) c.671C>A (p.Ala224Glu) c.773C>A (p.Ala258Glu) c.*385C>A (n.*385C>A) c.776C>A (p.Ala259Glu) | |
| X | g.134415059C>G | CA414713200 | PHF6 | c.*692C>G (n.*692C>G) c.671C>G (p.Ala224Gly) c.773C>G (p.Ala258Gly) c.*385C>G (n.*385C>G) c.776C>G (p.Ala259Gly) | |
| X | g.134415059C>T | CA414713201 | PHF6 | c.*692C>T (n.*692C>T) c.671C>T (p.Ala224Val) c.773C>T (p.Ala258Val) c.*385C>T (n.*385C>T) c.776C>T (p.Ala259Val) | |
| X | g.134415060A>C | CA518651890 | PHF6 | c.*693A>C (n.*693A>C) c.672A>C (p.Ala224=) c.774A>C (p.Ala258=) c.*386A>C (n.*386A>C) c.777A>C (p.Ala259=) | |
| X | g.134415060A>G | CA518651891 | PHF6 | c.*693A>G (n.*693A>G) c.672A>G (p.Ala224=) c.774A>G (p.Ala258=) c.*386A>G (n.*386A>G) c.777A>G (p.Ala259=) | gnomAD v4 |
| X | g.134415060A>T | CA518651892 | PHF6 | c.*693A>T (n.*693A>T) c.672A>T (p.Ala224=) c.774A>T (p.Ala258=) c.*386A>T (n.*386A>T) c.777A>T (p.Ala259=) | |
| 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) |