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 |
|---|---|---|---|---|---|
| 17 | g.41767399A>C | CA399500611 | JUP | c.889T>G (p.Tyr297Asp) c.940T>G (p.Tyr314Asp) | |
| 17 | g.41767399A>G | CA399500596 | JUP | c.889T>C (p.Tyr297His) c.940T>C (p.Tyr314His) | |
| 17 | g.41767399A>T | CA399500594 | JUP | c.889T>A (p.Tyr297Asn) c.940T>A (p.Tyr314Asn) | |
| 17 | g.41767400G>A | CA8565367 | JUP | c.888C>T (p.Ala296=) c.939C>T (p.Ala313=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767400G>C | CA500024403 | JUP | c.888C>G (p.Ala296=) c.939C>G (p.Ala313=) | gnomAD v4 |
| 17 | g.41767400G= | CA2260175133 | JUP | c.888C= (p.Ala296=) c.939C= (p.Ala313=) | |
| 17 | g.41767400G>T | CA500024404 | JUP | c.888C>A (p.Ala296=) c.939C>A (p.Ala313=) | |
| 17 | g.41767401G>A | CA399500621 | JUP | c.887C>T (p.Ala296Val) c.887C>T c.938C>T (p.Ala313Val) | |
| 17 | g.41767401G>C | CA399500618 | JUP | c.887C>G (p.Ala296Gly) c.887C>G c.938C>G (p.Ala313Gly) | |
| 17 | g.41767401G>T | CA399500625 | JUP | c.887C>A (p.Ala296Asp) c.887C>A c.938C>A (p.Ala313Asp) | gnomAD v4 |
| 17 | g.41767402C>A | CA290700000 | JUP | c.886G>T (p.Ala296Ser) c.886G>T c.937G>T (p.Ala313Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41767402C= | CA2260175134 | JUP | c.886G= (p.Ala296=) c.886G= c.937G= (p.Ala313=) | |
| 17 | g.41767402C>G | CA399500632 | JUP | c.886G>C (p.Ala296Pro) c.886G>C c.937G>C (p.Ala313Pro) | |
| 17 | g.41767402C>T | CA399500631 | JUP | c.886G>A (p.Ala296Thr) c.886G>A c.937G>A (p.Ala313Thr) | |
| 17 | g.41767403C>A | CA500024405 | JUP | c.885G>T (p.Leu295=) c.936G>T (p.Leu312=) | |
| 17 | g.41767403C>G | CA500024406 | JUP | c.885G>C (p.Leu295=) c.936G>C (p.Leu312=) | |
| 17 | g.41767403C>T | CA500024407 | JUP | c.885G>A (p.Leu295=) c.936G>A (p.Leu312=) | |
| 17 | g.41767404A= | CA2260175135 | JUP | c.884T= (p.Leu295=) c.935T= (p.Leu312=) | |
| 17 | g.41767404A>C | CA399500633 | JUP | c.884T>G (p.Leu295Arg) c.935T>G (p.Leu312Arg) | |
| 17 | g.41767404A>G | CA399500634 | JUP | c.884T>C (p.Leu295Pro) c.935T>C (p.Leu312Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767404A>T | CA399500635 | JUP | c.884T>A (p.Leu295Gln) c.935T>A (p.Leu312Gln) | |
| 17 | g.41767405G>A | CA500024408 | JUP | c.883C>T (p.Leu295=) c.934C>T (p.Leu312=) | |
| 17 | g.41767405G>C | CA399500636 | JUP | c.883C>G (p.Leu295Val) c.934C>G (p.Leu312Val) | |
| 17 | g.41767405G>T | CA399500638 | JUP | c.883C>A (p.Leu295Met) c.934C>A (p.Leu312Met) | |
| 17 | g.41767406G>A | CA500024409 | JUP | c.882C>T (p.Leu294=) c.933C>T (p.Leu311=) | gnomAD v4 |
| 17 | g.41767406G>C | CA500024411 | JUP | c.882C>G (p.Leu294=) c.933C>G (p.Leu311=) | dbSNP |
| 17 | g.41767406G>T | CA500024410 | JUP | c.882C>A (p.Leu294=) c.933C>A (p.Leu311=) | |
| 17 | g.41767407A>C | CA399500639 | JUP | c.881T>G (p.Leu294Arg) c.932T>G (p.Leu311Arg) | |
| 17 | g.41767407A>G | CA399500640 | JUP | c.881T>C (p.Leu294Pro) c.932T>C (p.Leu311Pro) | |
| 17 | g.41767407A>T | CA399500641 | JUP | c.881T>A (p.Leu294His) c.932T>A (p.Leu311His) | |
| 17 | g.41767408G>A | CA399500643 | JUP | c.880C>T (p.Leu294Phe) c.931C>T (p.Leu311Phe) | ClinVar |
| 17 | g.41767408G>C | CA399500645 | JUP | c.880C>G (p.Leu294Val) c.931C>G (p.Leu311Val) | |
| 17 | g.41767408G>T | CA399500647 | JUP | c.880C>A (p.Leu294Ile) c.931C>A (p.Leu311Ile) | |
| 17 | g.41767409C>A | CA399500651 | JUP | c.879G>T (p.Gln293His) c.930G>T (p.Gln310His) | |
| 17 | g.41767409C= | CA2260175136 | JUP | c.879G= (p.Gln293=) c.930G= (p.Gln310=) | |
| 17 | g.41767409C>G | CA399500655 | JUP | c.879G>C (p.Gln293His) c.930G>C (p.Gln310His) | |
| 17 | g.41767409C>T | CA500024414 | JUP | c.879G>A (p.Gln293=) c.930G>A (p.Gln310=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41767410T>A | CA399500660 | JUP | c.878A>T (p.Gln293Leu) c.929A>T (p.Gln310Leu) | |
| 17 | g.41767410T>C | CA399500665 | JUP | c.878A>G (p.Gln293Arg) c.929A>G (p.Gln310Arg) | |
| 17 | g.41767410T>G | CA399500663 | JUP | c.878A>C (p.Gln293Pro) c.929A>C (p.Gln310Pro) | |
| 17 | g.41767411G>A | CA399500671 | JUP | c.877C>T (p.Gln293Ter) c.928C>T (p.Gln310Ter) | gnomAD v4 |
| 17 | g.41767411G>C | CA399500675 | JUP | c.877C>G (p.Gln293Glu) c.928C>G (p.Gln310Glu) | |
| 17 | g.41767411G>T | CA399500678 | JUP | c.877C>A (p.Gln293Lys) c.928C>A (p.Gln310Lys) | |
| 17 | g.41767412C>A | CA500024421 | JUP | c.876G>T (p.Leu292=) c.927G>T (p.Leu309=) | |
| 17 | g.41767412C>G | CA500024423 | JUP | c.876G>C (p.Leu292=) c.927G>C (p.Leu309=) | |
| 17 | g.41767412C>T | CA500024424 | JUP | c.876G>A (p.Leu292=) c.927G>A (p.Leu309=) | |
| 17 | g.41767413A>C | CA399500681 | JUP | c.875T>G (p.Leu292Arg) c.926T>G (p.Leu309Arg) | |
| 17 | g.41767413A>G | CA399500684 | JUP | c.875T>C (p.Leu292Pro) c.926T>C (p.Leu309Pro) | ClinVar |
| 17 | g.41767413A>T | CA399500686 | JUP | c.875T>A (p.Leu292Gln) c.926T>A (p.Leu309Gln) | |
| 17 | g.41767414G>A | CA500024428 | JUP | c.874C>T (p.Leu292=) c.925C>T (p.Leu309=) | |
| 17 | g.41767414G>C | CA399500690 | JUP | c.874C>G (p.Leu292Val) c.925C>G (p.Leu309Val) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41767414G= | CA2260175137 | JUP | c.874C= (p.Leu292=) c.925C= (p.Leu309=) | |
| 17 | g.41767414G>T | CA399500693 | JUP | c.874C>A (p.Leu292Met) c.925C>A (p.Leu309Met) | |
| 17 | g.41767415G>A | CA500024432 | JUP | c.873C>T (p.Cys291=) c.924C>T (p.Cys308=) | gnomAD v4 |
| 17 | g.41767415G>C | CA399500697 | JUP | c.873C>G (p.Cys291Trp) c.924C>G (p.Cys308Trp) | |
| 17 | g.41767415G>T | CA399500700 | JUP | c.873C>A (p.Cys291Ter) c.924C>A (p.Cys308Ter) | ClinVar |
| 17 | g.41767416C>A | CA399500713 | JUP | c.872G>T (p.Cys291Phe) c.923G>T (p.Cys308Phe) | |
| 17 | g.41767416C= | CA2260175138 | JUP | c.872G= (p.Cys291=) c.923G= (p.Cys308=) | |
| 17 | g.41767416C>G | CA399500709 | JUP | c.872G>C (p.Cys291Ser) c.923G>C (p.Cys308Ser) | |
| 17 | g.41767416C>T | CA399500705 | JUP | c.872G>A (p.Cys291Tyr) c.923G>A (p.Cys308Tyr) | ClinVar dbSNP |
| 17 | g.41767417A>C | CA399500716 | JUP | c.871T>G (p.Cys291Gly) c.922T>G (p.Cys308Gly) | |
| 17 | g.41767417A>G | CA399500721 | JUP | c.871T>C (p.Cys291Arg) c.922T>C (p.Cys308Arg) | ClinVar dbSNP |
| 17 | g.41767417A>T | CA399500724 | JUP | c.871T>A (p.Cys291Ser) c.922T>A (p.Cys308Ser) | |
| 17 | g.41767418G>A | CA500024439 | JUP | c.870C>T (p.Asp290=) c.921C>T (p.Asp307=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41767418G>C | CA399500726 | JUP | c.870C>G (p.Asp290Glu) c.921C>G (p.Asp307Glu) | |
| 17 | g.41767418G= | CA2260175139 | JUP | c.870C= (p.Asp290=) c.921C= (p.Asp307=) | |
| 17 | g.41767418G>T | CA399500728 | JUP | c.870C>A (p.Asp290Glu) c.921C>A (p.Asp307Glu) | |
| 17 | g.41767419T>A | CA399500731 | JUP | c.869A>T (p.Asp290Val) c.920A>T (p.Asp307Val) | |
| 17 | g.41767419T>C | CA399500735 | JUP | c.869A>G (p.Asp290Gly) c.920A>G (p.Asp307Gly) | |
| 17 | g.41767419T>G | CA8565368 | JUP | c.869A>C (p.Asp290Ala) c.920A>C (p.Asp307Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41767419T= | CA2260175140 | JUP | c.869A= (p.Asp290=) c.920A= (p.Asp307=) | |
| 17 | g.41767420C>A | CA399500744 | JUP | c.868G>T (p.Asp290Tyr) c.919G>T (p.Asp307Tyr) | |
| 17 | g.41767420C= | CA2260175141 | JUP | c.868G= (p.Asp290=) c.919G= (p.Asp307=) | |
| 17 | g.41767420C>G | CA399500753 | JUP | c.868G>C (p.Asp290His) c.919G>C (p.Asp307His) | |
| 17 | g.41767420C>T | CA290700005 | JUP | c.868G>A (p.Asp290Asn) c.919G>A (p.Asp307Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.41767421G>A | CA137240 | JUP | c.867C>T (p.Thr289=) c.918C>T (p.Thr306=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767421G>C | CA290700007 | JUP | c.867C>G (p.Thr289=) c.918C>G (p.Thr306=) | dbSNP |
| 17 | g.41767421G= | CA2260175142 | JUP | c.867C= (p.Thr289=) c.918C= (p.Thr306=) | |
| 17 | g.41767421G>T | CA500024445 | JUP | c.867C>A (p.Thr289=) c.918C>A (p.Thr306=) | |
| 17 | g.41767422G>A | CA399500766 | JUP | c.866C>T (p.Thr289Ile) c.917C>T (p.Thr306Ile) | |
| 17 | g.41767422G>C | CA399500760 | JUP | c.866C>G (p.Thr289Ser) c.917C>G (p.Thr306Ser) | |
| 17 | g.41767422G>T | CA399500763 | JUP | c.866C>A (p.Thr289Asn) c.917C>A (p.Thr306Asn) | |
| 17 | g.41767422_41767423delinsAG | CA2260175144 | JUP | c.865_866delinsCT (p.Thr289Leu) c.916_917delinsCT (p.Thr306Leu) | ClinVar dbSNP |
| 17 | g.41767422_41767423delinsGT | CA2260175143 | JUP | c.865_866delinsAC (p.Thr289=) c.916_917delinsAC (p.Thr306=) | |
| 17 | g.41767423T>A | CA399500768 | JUP | c.865A>T (p.Thr289Ser) c.916A>T (p.Thr306Ser) | |
| 17 | g.41767423T>C | CA399500769 | JUP | c.865A>G (p.Thr289Ala) c.916A>G (p.Thr306Ala) | gnomAD v4 |
| 17 | g.41767423T>G | CA399500771 | JUP | c.865A>C (p.Thr289Pro) c.916A>C (p.Thr306Pro) | dbSNP |
| 17 | g.41767423T= | CA2260175145 | JUP | c.865A= (p.Thr289=) c.916A= (p.Thr306=) | |
| 17 | g.41767424G>A | CA500024454 | JUP | c.864C>T (p.Thr288=) c.915C>T (p.Thr305=) | |
| 17 | g.41767424G>C | CA500024456 | JUP | c.864C>G (p.Thr288=) c.915C>G (p.Thr305=) | |
| 17 | g.41767424G= | CA2260175146 | JUP | c.864C= (p.Thr288=) c.915C= (p.Thr305=) | |
| 17 | g.41767424G>T | CA500024457 | JUP | c.864C>A (p.Thr288=) c.915C>A (p.Thr305=) | dbSNP |
| 17 | g.41767425G>A | CA399500772 | JUP | c.863C>T (p.Thr288Ile) c.914C>T (p.Thr305Ile) | gnomAD v4 |
| 17 | g.41767425G>C | CA399500775 | JUP | c.863C>G (p.Thr288Ser) c.914C>G (p.Thr305Ser) | |
| 17 | g.41767425G>T | CA399500777 | JUP | c.863C>A (p.Thr288Asn) c.914C>A (p.Thr305Asn) | |
| 17 | g.41767426T>A | CA399500782 | JUP | c.862A>T (p.Thr288Ser) c.913A>T (p.Thr305Ser) | |
| 17 | g.41767426T>C | CA290700008 | JUP | c.862A>G (p.Thr288Ala) c.913A>G (p.Thr305Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41767426T>G | CA399500784 | JUP | c.862A>C (p.Thr288Pro) c.913A>C (p.Thr305Pro) | |
| 17 | g.41767426T= | CA2260175147 | JUP | c.862A= (p.Thr288=) c.913A= (p.Thr305=) | |
| 17 | g.41767427G>A | CA8565369 | JUP | c.861C>T (p.Ile287=) c.912C>T (p.Ile304=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41767427G>C | CA399500791 | JUP | c.861C>G (p.Ile287Met) c.912C>G (p.Ile304Met) | |
| 17 | g.41767427G= | CA2260175148 | JUP | c.861C= (p.Ile287=) c.912C= (p.Ile304=) | |
| 17 | g.41767427G>T | CA500024465 | JUP | c.861C>A (p.Ile287=) c.912C>A (p.Ile304=) | |
| 17 | g.41767428A>C | CA399500800 | JUP | c.860T>G (p.Ile287Ser) c.911T>G (p.Ile304Ser) | |
| 17 | g.41767428A>G | CA399500796 | JUP | c.860T>C (p.Ile287Thr) c.911T>C (p.Ile304Thr) | |
| 17 | g.41767428A>T | CA399500794 | JUP | c.860T>A (p.Ile287Asn) c.911T>A (p.Ile304Asn) | |
| 17 | g.41767429T>A | CA399500801 | JUP | c.859A>T (p.Ile287Phe) c.910A>T (p.Ile304Phe) | |
| 17 | g.41767429T>C | CA399500806 | JUP | c.859A>G (p.Ile287Val) c.910A>G (p.Ile304Val) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41767429T>G | CA399500803 | JUP | c.859A>C (p.Ile287Leu) c.910A>C (p.Ile304Leu) | |
| 17 | g.41767429T= | CA2260175149 | JUP | c.859A= (p.Ile287=) c.910A= (p.Ile304=) | |
| 17 | g.41767430G>A | CA500024472 | JUP | c.858C>T (p.Ala286=) c.909C>T (p.Ala303=) | |
| 17 | g.41767430G>C | CA500024475 | JUP | c.858C>G (p.Ala286=) c.909C>G (p.Ala303=) | |
| 17 | g.41767430G>T | CA500024474 | JUP | c.858C>A (p.Ala286=) c.909C>A (p.Ala303=) | |
| 17 | g.41767431G>A | CA399500812 | JUP | c.857C>T (p.Ala286Val) c.908C>T (p.Ala303Val) | |
| 17 | g.41767431G>C | CA399500813 | JUP | c.857C>G (p.Ala286Gly) c.908C>G (p.Ala303Gly) | |
| 17 | g.41767431G>T | CA399500816 | JUP | c.857C>A (p.Ala286Asp) c.908C>A (p.Ala303Asp) | |
| 17 | g.41767432C>A | CA399500822 | JUP | c.856G>T (p.Ala286Ser) c.907G>T (p.Ala303Ser) | |
| 17 | g.41767432C= | CA2260175150 | JUP | c.856G= (p.Ala286=) c.907G= (p.Ala303=) | |
| 17 | g.41767432C>G | CA399500825 | JUP | c.856G>C (p.Ala286Pro) c.907G>C (p.Ala303Pro) | |
| 17 | g.41767432C>T | CA399500829 | JUP | c.856G>A (p.Ala286Thr) c.907G>A (p.Ala303Thr) | ClinVar dbSNP |
| 17 | g.41767433C>A | CA500024485 | JUP | c.855G>T (p.Leu285=) c.906G>T (p.Leu302=) | |
| 17 | g.41767433C= | CA2260175151 | JUP | c.855G= (p.Leu285=) c.906G= (p.Leu302=) | |
| 17 | g.41767433C>G | CA500024481 | JUP | c.855G>C (p.Leu285=) c.906G>C (p.Leu302=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41767433C>T | CA500024483 | JUP | c.855G>A (p.Leu285=) c.906G>A (p.Leu302=) | ClinVar gnomAD v4 |
| 17 | g.41767434A>C | CA399500833 | JUP | c.854T>G (p.Leu285Arg) c.905T>G (p.Leu302Arg) | |
| 17 | g.41767434A>G | CA399500835 | JUP | c.854T>C (p.Leu285Pro) c.905T>C (p.Leu302Pro) | |
| 17 | g.41767434A>T | CA399500837 | JUP | c.854T>A (p.Leu285Gln) c.905T>A (p.Leu302Gln) | |
| 17 | g.41767435G>A | CA500024488 | JUP | c.853C>T (p.Leu285=) c.904C>T (p.Leu302=) | |
| 17 | g.41767435G>C | CA399500840 | JUP | c.853C>G (p.Leu285Val) c.904C>G (p.Leu302Val) | |
| 17 | g.41767435G>T | CA399500843 | JUP | c.853C>A (p.Leu285Met) c.904C>A (p.Leu302Met) | |
| 17 | g.41767436G>A | CA8565370 | JUP | c.852C>T (p.Phe284=) c.903C>T (p.Phe301=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41767436G>C | CA399500845 | JUP | c.852C>G (p.Phe284Leu) c.903C>G (p.Phe301Leu) | |
| 17 | g.41767436G= | CA2260175152 | JUP | c.852C= (p.Phe284=) c.903C= (p.Phe301=) | |
| 17 | g.41767436G>T | CA399500852 | JUP | c.852C>A (p.Phe284Leu) c.903C>A (p.Phe301Leu) | |
| 17 | g.41767437A>C | CA399500857 | JUP | c.851T>G (p.Phe284Cys) c.902T>G (p.Phe301Cys) | |
| 17 | g.41767437A>G | CA399500863 | JUP | c.851T>C (p.Phe284Ser) c.902T>C (p.Phe301Ser) | |
| 17 | g.41767437A>T | CA399500866 | JUP | c.851T>A (p.Phe284Tyr) c.902T>A (p.Phe301Tyr) | |
| 17 | g.41767438A>C | CA399500868 | JUP | c.850T>G (p.Phe284Val) c.901T>G (p.Phe301Val) | |
| 17 | g.41767438A>G | CA399500871 | JUP | c.850T>C (p.Phe284Leu) c.901T>C (p.Phe301Leu) | |
| 17 | g.41767438A>T | CA399500874 | JUP | c.850T>A (p.Phe284Ile) c.901T>A (p.Phe301Ile) | |
| 17 | g.41767439C>A | CA308571 | JUP | c.849G>T (p.Lys283Asn) c.900G>T (p.Lys300Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767439C= | CA2260175153 | JUP | c.849G= (p.Lys283=) c.900G= (p.Lys300=) | |
| 17 | g.41767439C>G | CA399500886 | JUP | c.849G>C (p.Lys283Asn) c.900G>C (p.Lys300Asn) | dbSNP |
| 17 | g.41767439C>T | CA500024500 | JUP | c.849G>A (p.Lys283=) c.900G>A (p.Lys300=) | dbSNP gnomAD v4 |
| 17 | g.41767440T>A | CA399500888 | JUP | c.848A>T (p.Lys283Met) c.899A>T (p.Lys300Met) | |
| 17 | g.41767440T>C | CA399500890 | JUP | c.848A>G (p.Lys283Arg) c.899A>G (p.Lys300Arg) | |
| 17 | g.41767440T>G | CA399500892 | JUP | c.848A>C (p.Lys283Thr) c.899A>C (p.Lys300Thr) | |
| 17 | g.41767441T>A | CA399500897 | JUP | c.847A>T (p.Lys283Ter) c.898A>T (p.Lys300Ter) | |
| 17 | g.41767441T>C | CA399500899 | JUP | c.847A>G (p.Lys283Glu) c.898A>G (p.Lys300Glu) | |
| 17 | g.41767441T>G | CA399500895 | JUP | c.847A>C (p.Lys283Gln) c.898A>C (p.Lys300Gln) | |
| 17 | g.41767442G>A | CA8565371 | JUP | c.846C>T (p.Pro282=) c.897C>T (p.Pro299=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41767442G>C | CA500024509 | JUP | c.846C>G (p.Pro282=) c.897C>G (p.Pro299=) | |
| 17 | g.41767442G= | CA2260175154 | JUP | c.846C= (p.Pro282=) c.897C= (p.Pro299=) | |
| 17 | g.41767442G>T | CA500024507 | JUP | c.846C>A (p.Pro282=) c.897C>A (p.Pro299=) | |
| 17 | g.41767443G>A | CA399500900 | JUP | c.845C>T (p.Pro282Leu) c.896C>T (p.Pro299Leu) | |
| 17 | g.41767443G>C | CA399500901 | JUP | c.845C>G (p.Pro282Arg) c.896C>G (p.Pro299Arg) | |
| 17 | g.41767443G>T | CA399500902 | JUP | c.845C>A (p.Pro282His) c.896C>A (p.Pro299His) | |
| 17 | g.41767444G>A | CA399500903 | JUP | c.844C>T (p.Pro282Ser) c.895C>T (p.Pro299Ser) | |
| 17 | g.41767444G>C | CA399500904 | JUP | c.844C>G (p.Pro282Ala) c.895C>G (p.Pro299Ala) | |
| 17 | g.41767444G= | CA2260175155 | JUP | c.844C= (p.Pro282=) c.895C= (p.Pro299=) | |
| 17 | g.41767444G>T | CA290700010 | JUP | c.844C>A (p.Pro282Thr) c.895C>A (p.Pro299Thr) | dbSNP |
| 17 | g.41767445G>A | CA500024515 | JUP | c.843C>T (p.Asn281=) c.894C>T (p.Asn298=) | |
| 17 | g.41767445G>C | CA399500909 | JUP | c.843C>G (p.Asn281Lys) c.894C>G (p.Asn298Lys) | |
| 17 | g.41767445G>T | CA399500910 | JUP | c.843C>A (p.Asn281Lys) c.894C>A (p.Asn298Lys) | |
| 17 | g.41767446T>A | CA399500912 | JUP | c.842A>T (p.Asn281Ile) c.893A>T (p.Asn298Ile) | |
| 17 | g.41767446T>C | CA8565372 | JUP | c.842A>G (p.Asn281Ser) c.893A>G (p.Asn298Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767446T>G | CA399500914 | JUP | c.842A>C (p.Asn281Thr) c.893A>C (p.Asn298Thr) | |
| 17 | g.41767446T= | CA2260175156 | JUP | c.842A= (p.Asn281=) c.893A= (p.Asn298=) | |
| 17 | g.41767447T>A | CA399500919 | JUP | c.841A>T (p.Asn281Tyr) c.892A>T (p.Asn298Tyr) | |
| 17 | g.41767447T>C | CA399500924 | JUP | c.841A>G (p.Asn281Asp) c.892A>G (p.Asn298Asp) | |
| 17 | g.41767447T>G | CA399500917 | JUP | c.841A>C (p.Asn281His) c.892A>C (p.Asn298His) | |
| 17 | g.41767448G>A | CA500024518 | JUP | c.840C>T (p.Asn280=) c.891C>T (p.Asn297=) | |
| 17 | g.41767448G>C | CA399500926 | JUP | c.840C>G (p.Asn280Lys) c.891C>G (p.Asn297Lys) | |
| 17 | g.41767448G>T | CA399500929 | JUP | c.840C>A (p.Asn280Lys) c.891C>A (p.Asn297Lys) | |
| 17 | g.41767449T>A | CA399500932 | JUP | c.839A>T (p.Asn280Ile) c.890A>T (p.Asn297Ile) | |
| 17 | g.41767449T>C | CA399500933 | JUP | c.839A>G (p.Asn280Ser) c.890A>G (p.Asn297Ser) | ClinVar gnomAD v4 |
| 17 | g.41767449T>G | CA399500935 | JUP | c.839A>C (p.Asn280Thr) c.890A>C (p.Asn297Thr) | |
| 17 | g.41767450T>A | CA399500947 | JUP | c.838A>T (p.Asn280Tyr) c.889A>T (p.Asn297Tyr) | |
| 17 | g.41767450T>C | CA399500938 | JUP | c.838A>G (p.Asn280Asp) c.889A>G (p.Asn297Asp) | |
| 17 | g.41767450T>G | CA399500944 | JUP | c.838A>C (p.Asn280His) c.889A>C (p.Asn297His) | |
| 17 | g.41767451C>A | CA399500951 | JUP | c.837G>T (p.Lys279Asn) c.888G>T (p.Lys296Asn) | |
| 17 | g.41767451C>G | CA399500954 | JUP | c.837G>C (p.Lys279Asn) c.888G>C (p.Lys296Asn) | |
| 17 | g.41767451C>T | CA500024519 | JUP | c.837G>A (p.Lys279=) c.888G>A (p.Lys296=) | |
| 17 | g.41767452T>A | CA399500956 | JUP | c.836A>T (p.Lys279Met) c.887A>T (p.Lys296Met) | |
| 17 | g.41767452T>C | CA399500959 | JUP | c.836A>G (p.Lys279Arg) c.887A>G (p.Lys296Arg) | |
| 17 | g.41767452T>G | CA399500961 | JUP | c.836A>C (p.Lys279Thr) c.887A>C (p.Lys296Thr) | |
| 17 | g.41767455_41767457del | CA2576268951 | JUP | c.834_836del (p.Asn278del) c.885_887del (p.Asn295del) | |
| 17 | g.41767453T>A | CA399500970 | JUP | c.835A>T (p.Lys279Ter) c.886A>T (p.Lys296Ter) | |
| 17 | g.41767453T>C | CA399500967 | JUP | c.835A>G (p.Lys279Glu) c.886A>G (p.Lys296Glu) | |
| 17 | g.41767453T>G | CA399500966 | JUP | c.835A>C (p.Lys279Gln) c.886A>C (p.Lys296Gln) | |
| 17 | g.41767454G>A | CA500024520 | JUP | c.834C>T (p.Asn278=) c.885C>T (p.Asn295=) | dbSNP |
| 17 | g.41767454G>C | CA399500974 | JUP | c.834C>G (p.Asn278Lys) c.885C>G (p.Asn295Lys) | |
| 17 | g.41767454G= | CA2260175157 | JUP | c.834C= (p.Asn278=) c.885C= (p.Asn295=) | |
| 17 | g.41767454G>T | CA399500977 | JUP | c.834C>A (p.Asn278Lys) c.885C>A (p.Asn295Lys) | dbSNP |
| 17 | g.41767455T>A | CA399500980 | JUP | c.833A>T (p.Asn278Ile) c.884A>T (p.Asn295Ile) | |
| 17 | g.41767455T>C | CA8565373 | JUP | c.833A>G (p.Asn278Ser) c.884A>G (p.Asn295Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767455T>G | CA399500984 | JUP | c.833A>C (p.Asn278Thr) c.884A>C (p.Asn295Thr) | |
| 17 | g.41767455T= | CA2260175158 | JUP | c.833A= (p.Asn278=) c.884A= (p.Asn295=) | |
| 17 | g.41767456T>A | CA399500988 | JUP | c.832A>T (p.Asn278Tyr) c.883A>T (p.Asn295Tyr) | |
| 17 | g.41767456T>C | CA399500990 | JUP | c.832A>G (p.Asn278Asp) c.883A>G (p.Asn295Asp) | |
| 17 | g.41767456T>G | CA399500993 | JUP | c.832A>C (p.Asn278His) c.883A>C (p.Asn295His) | |
| 17 | g.41767457G>A | CA500024523 | JUP | c.831C>T (p.Leu277=) c.882C>T (p.Leu294=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41767457G>C | CA500024521 | JUP | c.831C>G (p.Leu277=) c.882C>G (p.Leu294=) | ClinVar gnomAD v4 |
| 17 | g.41767457G= | CA2260175159 | JUP | c.831C= (p.Leu277=) c.882C= (p.Leu294=) | |
| 17 | g.41767457G>T | CA500024522 | JUP | c.831C>A (p.Leu277=) c.882C>A (p.Leu294=) | |
| 17 | g.41767458A= | CA2260175160 | JUP | c.830T= (p.Leu277=) c.830T= c.881T= (p.Leu294=) | |
| 17 | g.41767458A>C | CA8565374 | JUP | c.830T>G (p.Leu277Arg) c.830T>G c.881T>G (p.Leu294Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41767458A>G | CA8565375 | JUP | c.830T>C (p.Leu277Pro) c.830T>C c.881T>C (p.Leu294Pro) | dbSNP ExAC |
| 17 | g.41767458A>T | CA399500999 | JUP | c.830T>A (p.Leu277His) c.830T>A c.881T>A (p.Leu294His) | dbSNP gnomAD v4 |
| 17 | g.41767459G>A | CA399501003 | JUP | c.829C>T (p.Leu277Phe) c.829C>T c.880C>T (p.Leu294Phe) | |
| 17 | g.41767459G>C | CA399501006 | JUP | c.829C>G (p.Leu277Val) c.829C>G c.880C>G (p.Leu294Val) | |
| 17 | g.41767459G>T | CA399501008 | JUP | c.829C>A (p.Leu277Ile) c.829C>A c.880C>A (p.Leu294Ile) | |
| 17 | g.41767460C>A | CA500024525 | JUP | c.828G>T (p.Leu276=) c.879G>T (p.Leu293=) | |
| 17 | g.41767460C>G | CA500024526 | JUP | c.828G>C (p.Leu276=) c.879G>C (p.Leu293=) | ClinVar |
| 17 | g.41767460C>T | CA500024527 | JUP | c.828G>A (p.Leu276=) c.879G>A (p.Leu293=) | gnomAD v4 |
| 17 | g.41767461A= | CA2260175161 | JUP | c.827T= (p.Leu276=) c.878T= (p.Leu293=) | |
| 17 | g.41767461A>C | CA8565376 | JUP | c.827T>G (p.Leu276Arg) c.878T>G (p.Leu293Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41767461A>G | CA399501015 | JUP | c.827T>C (p.Leu276Pro) c.878T>C (p.Leu293Pro) | |
| 17 | g.41767461A>T | CA399501013 | JUP | c.827T>A (p.Leu276Gln) c.878T>A (p.Leu293Gln) | |
| 17 | g.41767462G>A | CA500024528 | JUP | c.826C>T (p.Leu276=) c.877C>T (p.Leu293=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41767462G>C | CA399501017 | JUP | c.826C>G (p.Leu276Val) c.877C>G (p.Leu293Val) | |
| 17 | g.41767462G= | CA2260175162 | JUP | c.826C= (p.Leu276=) c.877C= (p.Leu293=) | |
| 17 | g.41767462G>T | CA399501018 | JUP | c.826C>A (p.Leu276Met) c.877C>A (p.Leu293Met) | |
| 17 | g.41767463G>A | CA500024529 | JUP | c.825C>T (p.Pro275=) c.876C>T (p.Pro292=) | gnomAD v4 |
| 17 | g.41767463G>C | CA500024530 | JUP | c.825C>G (p.Pro275=) c.876C>G (p.Pro292=) | ClinVar gnomAD v4 |
| 17 | g.41767463G>T | CA500024531 | JUP | c.825C>A (p.Pro275=) c.876C>A (p.Pro292=) | |
| 17 | g.41767464G>A | CA399501021 | JUP | c.824C>T (p.Pro275Leu) c.875C>T (p.Pro292Leu) | |
| 17 | g.41767464G>C | CA399501023 | JUP | c.824C>G (p.Pro275Arg) c.875C>G (p.Pro292Arg) | |
| 17 | g.41767464G= | CA2260175163 | JUP | c.824C= (p.Pro275=) c.875C= (p.Pro292=) | |
| 17 | g.41767464G>T | CA399501026 | JUP | c.824C>A (p.Pro275His) c.875C>A (p.Pro292His) | dbSNP |
| 17 | g.41767465G>A | CA399501029 | JUP | c.823C>T (p.Pro275Ser) c.874C>T (p.Pro292Ser) | |
| 17 | g.41767465G>C | CA399501030 | JUP | c.823C>G (p.Pro275Ala) c.874C>G (p.Pro292Ala) | |
| 17 | g.41767465G>T | CA399501033 | JUP | c.823C>A (p.Pro275Thr) c.874C>A (p.Pro292Thr) | gnomAD v4 |
| 17 | g.41767466C>A | CA500024532 | JUP | c.822G>T (p.Val274=) c.873G>T (p.Val291=) | |
| 17 | g.41767466C>G | CA500024533 | JUP | c.822G>C (p.Val274=) c.873G>C (p.Val291=) | |
| 17 | g.41767466C>T | CA500024534 | JUP | c.822G>A (p.Val274=) c.873G>A (p.Val291=) | |
| 17 | g.41767467A>C | CA399501036 | JUP | c.821T>G (p.Val274Gly) c.872T>G (p.Val291Gly) | |
| 17 | g.41767467A>G | CA399501038 | JUP | c.821T>C (p.Val274Ala) c.872T>C (p.Val291Ala) | |
| 17 | g.41767467A>T | CA399501042 | JUP | c.821T>A (p.Val274Glu) c.872T>A (p.Val291Glu) | |
| 17 | g.41767468C>A | CA399501046 | JUP | c.820G>T (p.Val274Leu) c.871G>T (p.Val291Leu) | |
| 17 | g.41767468C= | CA2260175164 | JUP | c.820G= (p.Val274=) c.871G= (p.Val291=) | |
| 17 | g.41767468C>G | CA399501048 | JUP | c.820G>C (p.Val274Leu) c.871G>C (p.Val291Leu) | |
| 17 | g.41767468C>T | CA399501051 | JUP | c.820G>A (p.Val274Met) c.871G>A (p.Val291Met) | ClinVar dbSNP |
| 17 | g.41767469C>A | CA399501058 | JUP | c.819G>T (p.Met273Ile) c.870G>T (p.Met290Ile) | |
| 17 | g.41767469C>G | CA399501061 | JUP | c.819G>C (p.Met273Ile) c.870G>C (p.Met290Ile) | |
| 17 | g.41767469C>T | CA399501054 | JUP | c.819G>A (p.Met273Ile) c.870G>A (p.Met290Ile) | |
| 17 | g.41767470A= | CA2260175165 | JUP | c.818T= (p.Met273=) c.869T= (p.Met290=) | |
| 17 | g.41767470A>C | CA399501064 | JUP | c.818T>G (p.Met273Arg) c.869T>G (p.Met290Arg) | |
| 17 | g.41767470A>G | CA308566 | JUP | c.818T>C (p.Met273Thr) c.869T>C (p.Met290Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767470A>T | CA399501067 | JUP | c.818T>A (p.Met273Lys) c.869T>A (p.Met290Lys) | |
| 17 | g.41767471T>A | CA399501070 | JUP | c.817A>T (p.Met273Leu) c.868A>T (p.Met290Leu) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41767471T>C | CA399501073 | JUP | c.817A>G (p.Met273Val) c.868A>G (p.Met290Val) | |
| 17 | g.41767471T>G | CA399501075 | JUP | c.817A>C (p.Met273Leu) c.868A>C (p.Met290Leu) | |
| 17 | g.41767472C>A | CA399501078 | JUP | c.816G>T (p.Lys272Asn) c.867G>T (p.Lys289Asn) | gnomAD v4 |
| 17 | g.41767472C= | CA2260175166 | JUP | c.816G= (p.Lys272=) c.867G= (p.Lys289=) | |
| 17 | g.41767472C>G | CA399501080 | JUP | c.816G>C (p.Lys272Asn) c.867G>C (p.Lys289Asn) | dbSNP gnomAD v4 |
| 17 | g.41767472C>T | CA500024542 | JUP | c.816G>A (p.Lys272=) c.867G>A (p.Lys289=) | |
| 17 | g.41767473T>A | CA399501084 | JUP | c.815A>T (p.Lys272Met) c.866A>T (p.Lys289Met) | |
| 17 | g.41767473T>C | CA399501087 | JUP | c.815A>G (p.Lys272Arg) c.866A>G (p.Lys289Arg) | |
| 17 | g.41767473T>G | CA399501090 | JUP | c.815A>C (p.Lys272Thr) c.866A>C (p.Lys289Thr) | |
| 17 | g.41767474T>A | CA399501091 | JUP | c.814A>T (p.Lys272Ter) c.865A>T (p.Lys289Ter) | |
| 17 | g.41767474T>C | CA399501093 | JUP | c.814A>G (p.Lys272Glu) c.865A>G (p.Lys289Glu) | |
| 17 | g.41767474T>G | CA399501097 | JUP | c.814A>C (p.Lys272Gln) c.865A>C (p.Lys289Gln) | |
| 17 | g.41767475T>A | CA399501100 | JUP | c.813A>T (p.Gln271His) c.864A>T (p.Gln288His) | |
| 17 | g.41767475T>C | CA500024547 | JUP | c.813A>G (p.Gln271=) c.864A>G (p.Gln288=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41767475T>G | CA399501102 | JUP | c.813A>C (p.Gln271His) c.864A>C (p.Gln288His) | |
| 17 | g.41767475T= | CA2260175167 | JUP | c.813A= (p.Gln271=) c.864A= (p.Gln288=) | |
| 17 | g.41767476T>A | CA399501105 | JUP | c.812A>T (p.Gln271Leu) c.863A>T (p.Gln288Leu) | |
| 17 | g.41767476T>C | CA399501108 | JUP | c.812A>G (p.Gln271Arg) c.863A>G (p.Gln288Arg) | |
| 17 | g.41767476T>G | CA399501110 | JUP | c.812A>C (p.Gln271Pro) c.863A>C (p.Gln288Pro) | |
| 17 | g.41767477G>A | CA399501111 | JUP | c.811C>T (p.Gln271Ter) c.862C>T (p.Gln288Ter) | |
| 17 | g.41767477G>C | CA399501125 | JUP | c.811C>G (p.Gln271Glu) c.862C>G (p.Gln288Glu) | |
| 17 | g.41767477G>T | CA399501128 | JUP | c.811C>A (p.Gln271Lys) c.862C>A (p.Gln288Lys) | |
| 17 | g.41767478C>A | CA500024552 | JUP | c.810G>T (p.Leu270=) c.861G>T (p.Leu287=) | |
| 17 | g.41767478C>G | CA500024554 | JUP | c.810G>C (p.Leu270=) c.861G>C (p.Leu287=) | |
| 17 | g.41767478C>T | CA500024553 | JUP | c.810G>A (p.Leu270=) c.861G>A (p.Leu287=) | |
| 17 | g.41767479A= | CA2260175168 | JUP | c.809T= (p.Leu270=) c.860T= (p.Leu287=) | |
| 17 | g.41767479A>C | CA399501132 | JUP | c.809T>G (p.Leu270Arg) c.860T>G (p.Leu287Arg) | ClinVar dbSNP |
| 17 | g.41767479A>G | CA399501134 | JUP | c.809T>C (p.Leu270Pro) c.860T>C (p.Leu287Pro) | |
| 17 | g.41767479A>T | CA308496 | JUP | c.809T>A (p.Leu270Gln) c.860T>A (p.Leu287Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767480G>A | CA500024557 | JUP | c.808C>T (p.Leu270=) c.859C>T (p.Leu287=) | dbSNP gnomAD v4 |
| 17 | g.41767480G>C | CA399501138 | JUP | c.808C>G (p.Leu270Val) c.859C>G (p.Leu287Val) | |
| 17 | g.41767480G= | CA2260175169 | JUP | c.808C= (p.Leu270=) c.859C= (p.Leu287=) | |
| 17 | g.41767480G>T | CA399501139 | JUP | c.808C>A (p.Leu270Met) c.859C>A (p.Leu287Met) | |
| 17 | g.41767481C>A | CA8565377 | JUP | c.807G>T (p.Gly269=) c.858G>T (p.Gly286=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767481C= | CA2260175170 | JUP | c.807G= (p.Gly269=) c.858G= (p.Gly286=) | |
| 17 | g.41767481C>G | CA500024560 | JUP | c.807G>C (p.Gly269=) c.858G>C (p.Gly286=) | gnomAD v4 |
| 17 | g.41767481C>T | CA500024561 | JUP | c.807G>A (p.Gly269=) c.858G>A (p.Gly286=) | |
| 17 | g.41767482C>A | CA399501140 | JUP | c.806G>T (p.Gly269Val) c.857G>T (p.Gly286Val) | |
| 17 | g.41767482C>G | CA399501143 | JUP | c.806G>C (p.Gly269Ala) c.857G>C (p.Gly286Ala) | |
| 17 | g.41767482C>T | CA399501141 | JUP | c.806G>A (p.Gly269Glu) c.857G>A (p.Gly286Glu) | |
| 17 | g.41767483C>A | CA399501145 | JUP | c.805G>T (p.Gly269Trp) c.856G>T (p.Gly286Trp) | gnomAD v4 |
| 17 | g.41767483C= | CA2260175171 | JUP | c.805G= (p.Gly269=) c.856G= (p.Gly286=) | |
| 17 | g.41767483C>G | CA399501150 | JUP | c.805G>C (p.Gly269Arg) c.856G>C (p.Gly286Arg) | ClinVar |
| 17 | g.41767483C>T | CA399501147 | JUP | c.805G>A (p.Gly269Arg) c.856G>A (p.Gly286Arg) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41767484G>A | CA348635 | JUP | c.804C>T (p.Asp268=) c.855C>T (p.Asp285=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767484G>C | CA399501154 | JUP | c.804C>G (p.Asp268Glu) c.855C>G (p.Asp285Glu) | |
| 17 | g.41767484G= | CA2260175172 | JUP | c.804C= (p.Asp268=) c.855C= (p.Asp285=) | |
| 17 | g.41767484G>T | CA399501157 | JUP | c.804C>A (p.Asp268Glu) c.855C>A (p.Asp285Glu) | |
| 17 | g.41767485T>A | CA399501160 | JUP | c.803A>T (p.Asp268Val) c.854A>T (p.Asp285Val) | gnomAD v4 |
| 17 | g.41767485T>C | CA399501163 | JUP | c.803A>G (p.Asp268Gly) c.854A>G (p.Asp285Gly) | |
| 17 | g.41767485T>G | CA399501164 | JUP | c.803A>C (p.Asp268Ala) c.854A>C (p.Asp285Ala) | |
| 17 | g.41767486C>A | CA399501165 | JUP | c.802G>T (p.Asp268Tyr) c.853G>T (p.Asp285Tyr) | gnomAD v4 |
| 17 | g.41767486C= | CA2260175173 | JUP | c.802G= (p.Asp268=) c.853G= (p.Asp285=) | |
| 17 | g.41767486C>G | CA399501166 | JUP | c.802G>C (p.Asp268His) c.853G>C (p.Asp285His) | |
| 17 | g.41767486C>T | CA308491 | JUP | c.802G>A (p.Asp268Asn) c.853G>A (p.Asp285Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767487G>A | CA176399 | JUP | c.801C>T (p.Ala267=) c.852C>T (p.Ala284=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767487G>C | CA500024574 | JUP | c.801C>G (p.Ala267=) c.852C>G (p.Ala284=) | |
| 17 | g.41767487G= | CA2260175174 | JUP | c.801C= (p.Ala267=) c.852C= (p.Ala284=) | |
| 17 | g.41767487G>T | CA500024576 | JUP | c.801C>A (p.Ala267=) c.852C>A (p.Ala284=) | |
| 17 | g.41767488G>A | CA399501171 | JUP | c.800C>T (p.Ala267Val) c.851C>T (p.Ala284Val) | |
| 17 | g.41767488G>C | CA399501173 | JUP | c.800C>G (p.Ala267Gly) c.851C>G (p.Ala284Gly) | |
| 17 | g.41767488G>T | CA399501175 | JUP | c.800C>A (p.Ala267Asp) c.851C>A (p.Ala284Asp) | ClinVar |
| 17 | g.41767489C>A | CA399501178 | JUP | c.799G>T (p.Ala267Ser) c.850G>T (p.Ala284Ser) | |
| 17 | g.41767489C= | CA2260175175 | JUP | c.799G= (p.Ala267=) c.850G= (p.Ala284=) | |
| 17 | g.41767489C>G | CA399501182 | JUP | c.799G>C (p.Ala267Pro) c.850G>C (p.Ala284Pro) | |
| 17 | g.41767489C>T | CA399501180 | JUP | c.799G>A (p.Ala267Thr) c.850G>A (p.Ala284Thr) | dbSNP gnomAD v2 |
| 17 | g.41767490C>A | CA500024582 | JUP | c.798G>T (p.Leu266=) c.849G>T (p.Leu283=) | |
| 17 | g.41767490C= | CA2260175176 | JUP | c.798G= (p.Leu266=) c.849G= (p.Leu283=) | |
| 17 | g.41767490C>G | CA500024584 | JUP | c.798G>C (p.Leu266=) c.849G>C (p.Leu283=) | |
| 17 | g.41767490C>T | CA8565378 | JUP | c.798G>A (p.Leu266=) c.849G>A (p.Leu283=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767491A>C | CA399501194 | JUP | c.797T>G (p.Leu266Arg) c.848T>G (p.Leu283Arg) | |
| 17 | g.41767491A>G | CA399501195 | JUP | c.797T>C (p.Leu266Pro) c.848T>C (p.Leu283Pro) | |
| 17 | g.41767491A>T | CA399501197 | JUP | c.797T>A (p.Leu266Gln) c.848T>A (p.Leu283Gln) | |
| 17 | g.41767492G>A | CA500024590 | JUP | c.796C>T (p.Leu266=) c.847C>T (p.Leu283=) | |
| 17 | g.41767492G>C | CA399501200 | JUP | c.796C>G (p.Leu266Val) c.847C>G (p.Leu283Val) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41767492G>T | CA399501202 | JUP | c.796C>A (p.Leu266Met) c.847C>A (p.Leu283Met) | |
| 17 | g.41767497_41767512del | CA2499224321 | JUP | c.781_796del (p.Lys261TrpfsTer?) c.832_847del (p.Lys278TrpfsTer?) | ClinVar dbSNP |
| 17 | g.41767493G>A | CA500024592 | JUP | c.795C>T (p.Arg265=) c.846C>T (p.Arg282=) | |
| 17 | g.41767493G>C | CA500024593 | JUP | c.795C>G (p.Arg265=) c.846C>G (p.Arg282=) | |
| 17 | g.41767493G>T | CA500024595 | JUP | c.795C>A (p.Arg265=) c.846C>A (p.Arg282=) | |
| 17 | g.41767494C>A | CA399501204 | JUP | c.794G>T (p.Arg265Leu) c.845G>T (p.Arg282Leu) | |
| 17 | g.41767494C= | CA2260175177 | JUP | c.794G= (p.Arg265=) c.845G= (p.Arg282=) | |
| 17 | g.41767494C>G | CA399501206 | JUP | c.794G>C (p.Arg265Pro) c.845G>C (p.Arg282Pro) | |
| 17 | g.41767494C>T | CA208935 | JUP | c.794G>A (p.Arg265His) c.845G>A (p.Arg282His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.41767495G>A | CA8565379 | JUP | c.793C>T (p.Arg265Cys) c.844C>T (p.Arg282Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767495G>C | CA399501211 | JUP | c.793C>G (p.Arg265Gly) c.844C>G (p.Arg282Gly) | gnomAD v4 |
| 17 | g.41767495G= | CA2260175178 | JUP | c.793C= (p.Arg265=) c.844C= (p.Arg282=) | |
| 17 | g.41767495G>T | CA399501209 | JUP | c.793C>A (p.Arg265Ser) c.844C>A (p.Arg282Ser) | |
| 17 | g.41767496C>A | CA500024601 | JUP | c.792G>T (p.Val264=) c.843G>T (p.Val281=) | |
| 17 | g.41767496C>G | CA500024603 | JUP | c.792G>C (p.Val264=) c.843G>C (p.Val281=) | |
| 17 | g.41767496C>T | CA500024604 | JUP | c.792G>A (p.Val264=) c.843G>A (p.Val281=) | |
| 17 | g.41767497A>C | CA399501220 | JUP | c.791T>G (p.Val264Gly) c.842T>G (p.Val281Gly) | |
| 17 | g.41767497A>G | CA399501222 | JUP | c.791T>C (p.Val264Ala) c.842T>C (p.Val281Ala) | |
| 17 | g.41767497A>T | CA399501225 | JUP | c.791T>A (p.Val264Glu) c.842T>A (p.Val281Glu) | |
| 17 | g.41767498C>A | CA399501228 | JUP | c.790G>T (p.Val264Leu) c.841G>T (p.Val281Leu) | |
| 17 | g.41767498C>G | CA399501229 | JUP | c.790G>C (p.Val264Leu) c.841G>C (p.Val281Leu) | |
| 17 | g.41767498C>T | CA399501230 | JUP | c.790G>A (p.Val264Met) c.841G>A (p.Val281Met) | ClinVar gnomAD v4 |
| 17 | g.41767499G>A | CA8565380 | JUP | c.789C>T (p.Ala263=) c.840C>T (p.Ala280=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767499G>C | CA500024611 | JUP | c.789C>G (p.Ala263=) c.840C>G (p.Ala280=) | |
| 17 | g.41767499G= | CA2260175179 | JUP | c.789C= (p.Ala263=) c.840C= (p.Ala280=) | |
| 17 | g.41767499G>T | CA500024613 | JUP | c.789C>A (p.Ala263=) c.840C>A (p.Ala280=) | COSMIC |