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 |
|---|---|---|---|---|---|
| 8 | g.43122742G>A | CA460787447 | POMK | c.918G>A (p.Leu306=) c.*714G>A (n.*714G>A) c.636G>A (p.Leu212=) c.*838G>A (n.*838G>A) c.876G>A (p.Leu292=) c.*703G>A (n.*703G>A) | |
| 8 | g.43122742G>C | CA371122960 | POMK | c.918G>C (p.Leu306Phe) c.*714G>C (n.*714G>C) c.636G>C (p.Leu212Phe) c.*838G>C (n.*838G>C) c.876G>C (p.Leu292Phe) c.*703G>C (n.*703G>C) | |
| 8 | g.43122742G>T | CA371122961 | POMK | c.918G>T (p.Leu306Phe) c.*714G>T (n.*714G>T) c.636G>T (p.Leu212Phe) c.*838G>T (n.*838G>T) c.876G>T (p.Leu292Phe) c.*703G>T (n.*703G>T) | |
| 8 | g.43122743T>A | CA371122962 | POMK | c.919T>A (p.Phe307Ile) c.*715T>A (n.*715T>A) c.637T>A (p.Phe213Ile) c.*839T>A (n.*839T>A) c.877T>A (p.Phe293Ile) c.*704T>A (n.*704T>A) | |
| 8 | g.43122743T>C | CA176080751 | POMK | c.919T>C (p.Phe307Leu) c.*715T>C (n.*715T>C) c.637T>C (p.Phe213Leu) c.*839T>C (n.*839T>C) c.877T>C (p.Phe293Leu) c.*704T>C (n.*704T>C) | dbSNP |
| 8 | g.43122743T>G | CA371122963 | POMK | c.919T>G (p.Phe307Val) c.*715T>G (n.*715T>G) c.637T>G (p.Phe213Val) c.*839T>G (n.*839T>G) c.877T>G (p.Phe293Val) c.*704T>G (n.*704T>G) | |
| 8 | g.43122743T= | CA1779747950 | POMK | c.919T= (p.Phe307=) c.*715T= (n.*715T=) c.637T= (p.Phe213=) c.*839T= (n.*839T=) c.877T= (p.Phe293=) c.*704T= (n.*704T=) | |
| 8 | g.43122744T>A | CA371122964 | POMK | c.920T>A (p.Phe307Tyr) c.*716T>A (n.*716T>A) c.638T>A (p.Phe213Tyr) c.*840T>A (n.*840T>A) c.878T>A (p.Phe293Tyr) c.*705T>A (n.*705T>A) | |
| 8 | g.43122744T>C | CA371122965 | POMK | c.920T>C (p.Phe307Ser) c.*716T>C (n.*716T>C) c.638T>C (p.Phe213Ser) c.*840T>C (n.*840T>C) c.878T>C (p.Phe293Ser) c.*705T>C (n.*705T>C) | gnomAD v4 |
| 8 | g.43122744T>G | CA371122966 | POMK | c.920T>G (p.Phe307Cys) c.*716T>G (n.*716T>G) c.638T>G (p.Phe213Cys) c.*840T>G (n.*840T>G) c.878T>G (p.Phe293Cys) c.*705T>G (n.*705T>G) | |
| 8 | g.43122745T>A | CA371122967 | POMK | c.921T>A (p.Phe307Leu) c.*717T>A (n.*717T>A) c.639T>A (p.Phe213Leu) c.*841T>A (n.*841T>A) c.879T>A (p.Phe293Leu) c.*706T>A (n.*706T>A) | |
| 8 | g.43122745T>C | CA460787449 | POMK | c.921T>C (p.Phe307=) c.*717T>C (n.*717T>C) c.639T>C (p.Phe213=) c.*841T>C (n.*841T>C) c.879T>C (p.Phe293=) c.*706T>C (n.*706T>C) | |
| 8 | g.43122745T>G | CA371122968 | POMK | c.921T>G (p.Phe307Leu) c.*717T>G (n.*717T>G) c.639T>G (p.Phe213Leu) c.*841T>G (n.*841T>G) c.879T>G (p.Phe293Leu) c.*706T>G (n.*706T>G) | |
| 8 | g.43122746G>A | CA371122969 | POMK | c.922G>A (p.Asp308Asn) c.*718G>A (n.*718G>A) c.640G>A (p.Asp214Asn) c.*842G>A (n.*842G>A) c.880G>A (p.Asp294Asn) c.*707G>A (n.*707G>A) | |
| 8 | g.43122746G>C | CA371122970 | POMK | c.922G>C (p.Asp308His) c.*718G>C (n.*718G>C) c.640G>C (p.Asp214His) c.*842G>C (n.*842G>C) c.880G>C (p.Asp294His) c.*707G>C (n.*707G>C) | |
| 8 | g.43122746G>T | CA371122971 | POMK | c.922G>T (p.Asp308Tyr) c.*718G>T (n.*718G>T) c.640G>T (p.Asp214Tyr) c.*842G>T (n.*842G>T) c.880G>T (p.Asp294Tyr) c.*707G>T (n.*707G>T) | gnomAD v4 |
| 8 | g.43122747A>C | CA371122973 | POMK | c.923A>C (p.Asp308Ala) c.*719A>C (n.*719A>C) c.641A>C (p.Asp214Ala) c.*843A>C (n.*843A>C) c.881A>C (p.Asp294Ala) c.*708A>C (n.*708A>C) | |
| 8 | g.43122747A>G | CA371122974 | POMK | c.923A>G (p.Asp308Gly) c.*719A>G (n.*719A>G) c.641A>G (p.Asp214Gly) c.*843A>G (n.*843A>G) c.881A>G (p.Asp294Gly) c.*708A>G (n.*708A>G) | gnomAD v4 |
| 8 | g.43122747A>T | CA371122972 | POMK | c.923A>T (p.Asp308Val) c.*719A>T (n.*719A>T) c.641A>T (p.Asp214Val) c.*843A>T (n.*843A>T) c.881A>T (p.Asp294Val) c.*708A>T (n.*708A>T) | |
| 8 | g.43122748T>A | CA371122975 | POMK | c.924T>A (p.Asp308Glu) c.*720T>A (n.*720T>A) c.642T>A (p.Asp214Glu) c.*844T>A (n.*844T>A) c.882T>A (p.Asp294Glu) c.*709T>A (n.*709T>A) | |
| 8 | g.43122748T>C | CA460787517 | POMK | c.924T>C (p.Asp308=) c.*720T>C (n.*720T>C) c.642T>C (p.Asp214=) c.*844T>C (n.*844T>C) c.882T>C (p.Asp294=) c.*709T>C (n.*709T>C) | |
| 8 | g.43122748T>G | CA371122976 | POMK | c.924T>G (p.Asp308Glu) c.*720T>G (n.*720T>G) c.642T>G (p.Asp214Glu) c.*844T>G (n.*844T>G) c.882T>G (p.Asp294Glu) c.*709T>G (n.*709T>G) | |
| 8 | g.43122749A>C | CA371122977 | POMK | c.925A>C (p.Ile309Leu) c.*721A>C (n.*721A>C) c.643A>C (p.Ile215Leu) c.*845A>C (n.*845A>C) c.883A>C (p.Ile295Leu) c.*710A>C (n.*710A>C) | |
| 8 | g.43122749A>G | CA371122978 | POMK | c.925A>G (p.Ile309Val) c.*721A>G (n.*721A>G) c.643A>G (p.Ile215Val) c.*845A>G (n.*845A>G) c.883A>G (p.Ile295Val) c.*710A>G (n.*710A>G) | |
| 8 | g.43122749A>T | CA371122979 | POMK | c.925A>T (p.Ile309Phe) c.*721A>T (n.*721A>T) c.643A>T (p.Ile215Phe) c.*845A>T (n.*845A>T) c.883A>T (p.Ile295Phe) c.*710A>T (n.*710A>T) | |
| 8 | g.43122750T>A | CA371122980 | POMK | c.926T>A (p.Ile309Asn) c.*722T>A (n.*722T>A) c.644T>A (p.Ile215Asn) c.*846T>A (n.*846T>A) c.884T>A (p.Ile295Asn) c.*711T>A (n.*711T>A) | gnomAD v4 |
| 8 | g.43122750T>C | CA4736379 | POMK | c.926T>C (p.Ile309Thr) c.*722T>C (n.*722T>C) c.644T>C (p.Ile215Thr) c.*846T>C (n.*846T>C) c.884T>C (p.Ile295Thr) c.*711T>C (n.*711T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122750T>G | CA371122981 | POMK | c.926T>G (p.Ile309Ser) c.*722T>G (n.*722T>G) c.644T>G (p.Ile215Ser) c.*846T>G (n.*846T>G) c.884T>G (p.Ile295Ser) c.*711T>G (n.*711T>G) | |
| 8 | g.43122750T= | CA1779748162 | POMK | c.926T= (p.Ile309=) c.*722T= (n.*722T=) c.644T= (p.Ile215=) c.*846T= (n.*846T=) c.884T= (p.Ile295=) c.*711T= (n.*711T=) | |
| 8 | g.43122751T>A | CA460787518 | POMK | c.927T>A (p.Ile309=) c.*723T>A (n.*723T>A) c.645T>A (p.Ile215=) c.*847T>A (n.*847T>A) c.885T>A (p.Ile295=) c.*712T>A (n.*712T>A) | |
| 8 | g.43122751T>C | CA460787519 | POMK | c.927T>C (p.Ile309=) c.*723T>C (n.*723T>C) c.645T>C (p.Ile215=) c.*847T>C (n.*847T>C) c.885T>C (p.Ile295=) c.*712T>C (n.*712T>C) | |
| 8 | g.43122751T>G | CA371122982 | POMK | c.927T>G (p.Ile309Met) c.*723T>G (n.*723T>G) c.645T>G (p.Ile215Met) c.*847T>G (n.*847T>G) c.885T>G (p.Ile295Met) c.*712T>G (n.*712T>G) | |
| 8 | g.43122752C>A | CA371122983 | POMK | c.928C>A (p.His310Asn) c.*724C>A (n.*724C>A) c.646C>A (p.His216Asn) c.*848C>A (n.*848C>A) c.886C>A (p.His296Asn) c.*713C>A (n.*713C>A) | |
| 8 | g.43122752C>G | CA371122984 | POMK | c.928C>G (p.His310Asp) c.*724C>G (n.*724C>G) c.646C>G (p.His216Asp) c.*848C>G (n.*848C>G) c.886C>G (p.His296Asp) c.*713C>G (n.*713C>G) | |
| 8 | g.43122752C>T | CA371122985 | POMK | c.928C>T (p.His310Tyr) c.*724C>T (n.*724C>T) c.646C>T (p.His216Tyr) c.*848C>T (n.*848C>T) c.886C>T (p.His296Tyr) c.*713C>T (n.*713C>T) | |
| 8 | g.43122753A>C | CA371122986 | POMK | c.929A>C (p.His310Pro) c.*725A>C (n.*725A>C) c.647A>C (p.His216Pro) c.*849A>C (n.*849A>C) c.887A>C (p.His296Pro) c.*714A>C (n.*714A>C) | |
| 8 | g.43122753A>G | CA371122988 | POMK | c.929A>G (p.His310Arg) c.*725A>G (n.*725A>G) c.647A>G (p.His216Arg) c.*849A>G (n.*849A>G) c.887A>G (p.His296Arg) c.*714A>G (n.*714A>G) | |
| 8 | g.43122753A>T | CA371122987 | POMK | c.929A>T (p.His310Leu) c.*725A>T (n.*725A>T) c.647A>T (p.His216Leu) c.*849A>T (n.*849A>T) c.887A>T (p.His296Leu) c.*714A>T (n.*714A>T) | |
| 8 | g.43122754C>A | CA371122989 | POMK | c.930C>A (p.His310Gln) c.*726C>A (n.*726C>A) c.648C>A (p.His216Gln) c.*850C>A (n.*850C>A) c.888C>A (p.His296Gln) c.*715C>A (n.*715C>A) | |
| 8 | g.43122754C>G | CA371122990 | POMK | c.930C>G (p.His310Gln) c.*726C>G (n.*726C>G) c.648C>G (p.His216Gln) c.*850C>G (n.*850C>G) c.888C>G (p.His296Gln) c.*715C>G (n.*715C>G) | |
| 8 | g.43122754C>T | CA460787523 | POMK | c.930C>T (p.His310=) c.*726C>T (n.*726C>T) c.648C>T (p.His216=) c.*850C>T (n.*850C>T) c.888C>T (p.His296=) c.*715C>T (n.*715C>T) | |
| 8 | g.43122755A>C | CA371122991 | POMK | c.931A>C (p.Lys311Gln) c.*727A>C (n.*727A>C) c.649A>C (p.Lys217Gln) c.*851A>C (n.*851A>C) c.889A>C (p.Lys297Gln) c.*716A>C (n.*716A>C) | |
| 8 | g.43122755A>G | CA371122992 | POMK | c.931A>G (p.Lys311Glu) c.*727A>G (n.*727A>G) c.649A>G (p.Lys217Glu) c.*851A>G (n.*851A>G) c.889A>G (p.Lys297Glu) c.*716A>G (n.*716A>G) | |
| 8 | g.43122755A>T | CA371122993 | POMK | c.931A>T (p.Lys311Ter) c.*727A>T (n.*727A>T) c.649A>T (p.Lys217Ter) c.*851A>T (n.*851A>T) c.889A>T (p.Lys297Ter) c.*716A>T (n.*716A>T) | |
| 8 | g.43122756A>C | CA371122994 | POMK | c.932A>C (p.Lys311Thr) c.*728A>C (n.*728A>C) c.650A>C (p.Lys217Thr) c.*852A>C (n.*852A>C) c.890A>C (p.Lys297Thr) c.*717A>C (n.*717A>C) | |
| 8 | g.43122756A>G | CA371122995 | POMK | c.932A>G (p.Lys311Arg) c.*728A>G (n.*728A>G) c.650A>G (p.Lys217Arg) c.*852A>G (n.*852A>G) c.890A>G (p.Lys297Arg) c.*717A>G (n.*717A>G) | |
| 8 | g.43122756A>T | CA371122996 | POMK | c.932A>T (p.Lys311Ile) c.*728A>T (n.*728A>T) c.650A>T (p.Lys217Ile) c.*852A>T (n.*852A>T) c.890A>T (p.Lys297Ile) c.*717A>T (n.*717A>T) | |
| 8 | g.43122757A>C | CA371122997 | POMK | c.933A>C (p.Lys311Asn) c.*729A>C (n.*729A>C) c.651A>C (p.Lys217Asn) c.*853A>C (n.*853A>C) c.891A>C (p.Lys297Asn) c.*718A>C (n.*718A>C) | |
| 8 | g.43122757A>G | CA460787524 | POMK | c.933A>G (p.Lys311=) c.*729A>G (n.*729A>G) c.651A>G (p.Lys217=) c.*853A>G (n.*853A>G) c.891A>G (p.Lys297=) c.*718A>G (n.*718A>G) | |
| 8 | g.43122757A>T | CA371122998 | POMK | c.933A>T (p.Lys311Asn) c.*729A>T (n.*729A>T) c.651A>T (p.Lys217Asn) c.*853A>T (n.*853A>T) c.891A>T (p.Lys297Asn) c.*718A>T (n.*718A>T) |