| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.41767394G>A | CA500024400 | JUP | c.894C>T (p.Gly298=) c.945C>T (p.Gly315=) | |
| 17 | g.41767394G>C | CA500024402 | JUP | c.894C>G (p.Gly298=) c.945C>G (p.Gly315=) | |
| 17 | g.41767394G>T | CA500024401 | JUP | c.894C>A (p.Gly298=) c.945C>A (p.Gly315=) | COSMIC |
| 17 | g.41767395C>A | CA399500556 | JUP | c.893G>T (p.Gly298Val) c.893G>T c.944G>T (p.Gly315Val) | |
| 17 | g.41767395C>G | CA399500561 | JUP | c.893G>C (p.Gly298Ala) c.893G>C c.944G>C (p.Gly315Ala) | |
| 17 | g.41767395C>T | CA399500563 | JUP | c.893G>A (p.Gly298Asp) c.893G>A c.944G>A (p.Gly315Asp) | COSMIC |
| 17 | g.41767396C>A | CA399500567 | JUP | c.892G>T (p.Gly298Cys) c.892G>T c.943G>T (p.Gly315Cys) | |
| 17 | g.41767396C= | CA2260175130 | JUP | c.892G= (p.Gly298=) c.892G= c.943G= (p.Gly315=) | |
| 17 | g.41767396C>G | CA399500570 | JUP | c.892G>C (p.Gly298Arg) c.892G>C c.943G>C (p.Gly315Arg) | |
| 17 | g.41767396C>T | CA308501 | JUP | c.892G>A (p.Gly298Ser) c.892G>A c.943G>A (p.Gly315Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767397G>A | CA137245 | JUP | c.891C>T (p.Tyr297=) c.942C>T (p.Tyr314=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.41767397G>C | CA399500575 | JUP | c.891C>G (p.Tyr297Ter) c.942C>G (p.Tyr314Ter) | |
| 17 | g.41767397G= | CA2260175131 | JUP | c.891C= (p.Tyr297=) c.942C= (p.Tyr314=) | |
| 17 | g.41767397G>T | CA399500579 | JUP | c.891C>A (p.Tyr297Ter) c.942C>A (p.Tyr314Ter) | |
| 17 | g.41767398T>A | CA399500583 | JUP | c.890A>T (p.Tyr297Phe) c.941A>T (p.Tyr314Phe) | |
| 17 | g.41767398T>C | CA8565366 | JUP | c.890A>G (p.Tyr297Cys) c.941A>G (p.Tyr314Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41767398T>G | CA399500589 | JUP | c.890A>C (p.Tyr297Ser) c.941A>C (p.Tyr314Ser) | |
| 17 | g.41767398T= | CA2260175132 | JUP | c.890A= (p.Tyr297=) c.941A= (p.Tyr314=) | |
| 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) |