| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.41771697_41771738del | CA645574074 | JUP | c.119_160del (p.Lys40_Tyr53del) n.247_288del c.170_211del (p.Lys57_Tyr70del) | COSMIC |
| 17 | g.41771736_41771739delinsTTGC | CA2260177276 | JUP | c.116_119delinsGCAA (p.Ser39=) n.244_247delinsGCAA c.167_170delinsGCAA (p.Ser56=) | |
| 17 | g.41771737T>A | CA399506929 | JUP | c.118A>T (p.Lys40Ter) n.246A>T c.169A>T (p.Lys57Ter) | |
| 17 | g.41771737T>C | CA399506931 | JUP | c.118A>G (p.Lys40Glu) n.246A>G c.169A>G (p.Lys57Glu) | |
| 17 | g.41771737T>G | CA399506932 | JUP | c.118A>C (p.Lys40Gln) n.246A>C c.169A>C (p.Lys57Gln) | |
| 17 | g.41771742_41771744dup | CA341294 | JUP | c.116_118dup (p.Ser39_Lys40insSer) n.244_246dup c.167_169dup (p.Ser56_Lys57insSer) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41771742_41771744del | CA8565579 | JUP | c.116_118del (p.Ser39del) n.244_246del c.167_169del (p.Ser56del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41771738G>A | CA500025921 | JUP | c.117C>T (p.Ser39=) n.245C>T c.168C>T (p.Ser56=) | |
| 17 | g.41771738G>C | CA399506935 | JUP | c.117C>G (p.Ser39Arg) n.245C>G c.168C>G (p.Ser56Arg) | gnomAD v4 |
| 17 | g.41771738G>T | CA399506937 | JUP | c.117C>A (p.Ser39Arg) n.245C>A c.168C>A (p.Ser56Arg) | |
| 17 | g.41771739C>A | CA399506939 | JUP | c.116G>T (p.Ser39Ile) n.244G>T c.167G>T (p.Ser56Ile) | |
| 17 | g.41771739C= | CA2260177277 | JUP | c.116G= (p.Ser39=) n.244G= c.167G= (p.Ser56=) | |
| 17 | g.41771739C>G | CA399506940 | JUP | c.116G>C (p.Ser39Thr) n.244G>C c.167G>C (p.Ser56Thr) | |
| 17 | g.41771739C>T | CA399506942 | JUP | c.116G>A (p.Ser39Asn) n.244G>A c.167G>A (p.Ser56Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41771740T>A | CA399506945 | JUP | c.115A>T (p.Ser39Cys) n.243A>T c.166A>T (p.Ser56Cys) | |
| 17 | g.41771740T>C | CA8565580 | JUP | c.115A>G (p.Ser39Gly) n.243A>G c.166A>G (p.Ser56Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41771740T>G | CA399506947 | JUP | c.115A>C (p.Ser39Arg) n.243A>C c.166A>C (p.Ser56Arg) | |
| 17 | g.41771740T= | CA2260177278 | JUP | c.115A= (p.Ser39=) n.243A= c.166A= (p.Ser56=) | |
| 17 | g.41771740_41771741delinsTG | CA2260177279 | JUP | c.114_115delinsCA (p.Ser38=) n.242_243delinsCA c.165_166delinsCA (p.Ser55=) | |
| 17 | g.41771741del | CA2260177280 | JUP | c.114del (p.Ser38ArgfsTer?) n.242del c.165del (p.Ser55ArgfsTer?) | dbSNP |
| 17 | g.41771741G>A | CA500025929 | JUP | c.114C>T (p.Ser38=) n.242C>T c.165C>T (p.Ser55=) | dbSNP |
| 17 | g.41771741G>C | CA399506949 | JUP | c.114C>G (p.Ser38Arg) n.242C>G c.165C>G (p.Ser55Arg) | |
| 17 | g.41771741G= | CA2260177281 | JUP | c.114C= (p.Ser38=) n.242C= c.165C= (p.Ser55=) | |
| 17 | g.41771741G>T | CA8565581 | JUP | c.114C>A (p.Ser38Arg) n.242C>A c.165C>A (p.Ser55Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41771742C>A | CA399506951 | JUP | c.113G>T (p.Ser38Ile) n.241G>T c.164G>T (p.Ser55Ile) | |
| 17 | g.41771742C>G | CA399506953 | JUP | c.113G>C (p.Ser38Thr) n.241G>C c.164G>C (p.Ser55Thr) | |
| 17 | g.41771742C>T | CA399506955 | JUP | c.113G>A (p.Ser38Asn) n.241G>A c.164G>A (p.Ser55Asn) | COSMIC |
| 17 | g.41771743T>A | CA399506956 | JUP | c.112A>T (p.Ser38Cys) n.240A>T c.163A>T (p.Ser55Cys) | |
| 17 | g.41771743T>C | CA399506957 | JUP | c.112A>G (p.Ser38Gly) n.240A>G c.163A>G (p.Ser55Gly) | |
| 17 | g.41771743T>G | CA399506959 | JUP | c.112A>C (p.Ser38Arg) n.240A>C c.163A>C (p.Ser55Arg) | |
| 17 | g.41771744G>A | CA500025935 | JUP | c.111C>T (p.Val37=) n.239C>T c.162C>T (p.Val54=) | ClinVar dbSNP |
| 17 | g.41771744G>C | CA500025938 | JUP | c.111C>G (p.Val37=) n.239C>G c.162C>G (p.Val54=) | |
| 17 | g.41771744G>T | CA500025940 | JUP | c.111C>A (p.Val37=) n.239C>A c.162C>A (p.Val54=) | |
| 17 | g.41771745A>C | CA399506965 | JUP | c.110T>G (p.Val37Gly) n.238T>G c.161T>G (p.Val54Gly) | |
| 17 | g.41771745A>G | CA399506962 | JUP | c.110T>C (p.Val37Ala) n.238T>C c.161T>C (p.Val54Ala) | |
| 17 | g.41771745A>T | CA399506963 | JUP | c.110T>A (p.Val37Asp) n.238T>A c.161T>A (p.Val54Asp) | gnomAD v4 |
| 17 | g.41771746C>A | CA399506967 | JUP | c.109G>T (p.Val37Phe) n.237G>T c.160G>T (p.Val54Phe) | |
| 17 | g.41771746C= | CA2260177282 | JUP | c.109G= (p.Val37=) n.237G= c.160G= (p.Val54=) | |
| 17 | g.41771746C>G | CA399506969 | JUP | c.109G>C (p.Val37Leu) n.237G>C c.160G>C (p.Val54Leu) | |
| 17 | g.41771746C>T | CA8565582 | JUP | c.109G>A (p.Val37Ile) n.237G>A c.160G>A (p.Val54Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41771746_41771749delinsCGGA | CA2260177283 | JUP | c.106_109delinsTCCG (p.Ser36=) n.234_237delinsTCCG c.157_160delinsTCCG (p.Ser53=) | |
| 17 | g.41771747G>A | CA8565583 | JUP | c.108C>T (p.Ser36=) n.236C>T c.159C>T (p.Ser53=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41771747G>C | CA500025947 | JUP | c.108C>G (p.Ser36=) n.236C>G c.159C>G (p.Ser53=) | |
| 17 | g.41771747G= | CA2260177285 | JUP | c.108C= (p.Ser36=) n.236C= c.159C= (p.Ser53=) | |
| 17 | g.41771747G>T | CA399506972 | JUP | c.108C>A (p.Ser36=) n.236C>A c.159C>A (p.Ser53=) | dbSNP |
| 17 | g.41771749_41771751del | CA2260177284 | JUP | c.106_108del (p.Ser36del) n.234_236del c.157_159del (p.Ser53del) | dbSNP |
| 17 | g.41771748G>A | CA399506974 | JUP | c.107C>T (p.Ser36Phe) n.235C>T c.158C>T (p.Ser53Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.41771748G>C | CA399506977 | JUP | c.107C>G (p.Ser36Cys) n.235C>G c.158C>G (p.Ser53Cys) | |
| 17 | g.41771748G= | CA2260177286 | JUP | c.107C= (p.Ser36=) n.235C= c.158C= (p.Ser53=) | |
| 17 | g.41771748G>T | CA399506976 | JUP | c.107C>A (p.Ser36Tyr) n.235C>A c.158C>A (p.Ser53Tyr) |