Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.41771742_41771744dup | CA341294 | JUP | c.116_118dup (p.Ser39_Lys40insSer) n.244_246dup c.167_169dup (p.Ser56_Lys57insSer) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.41771742_41771744del | CA8565579 | JUP | c.116_118del (p.Ser39del) n.244_246del c.167_169del (p.Ser56del) | 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) | |
17 | g.41771749A>C | CA399506979 | JUP | c.106T>G (p.Ser36Ala) n.234T>G c.157T>G (p.Ser53Ala) | |
17 | g.41771749A>G | CA399506981 | JUP | c.106T>C (p.Ser36Pro) n.234T>C c.157T>C (p.Ser53Pro) | |
17 | g.41771749A>T | CA399506983 | JUP | c.106T>A (p.Ser36Thr) n.234T>A c.157T>A (p.Ser53Thr) | |
17 | g.41771750G>A | CA500025954 | JUP | c.105C>T (p.Pro35=) n.233C>T c.156C>T (p.Pro52=) | |
17 | g.41771750G>C | CA500025959 | JUP | c.105C>G (p.Pro35=) n.233C>G c.156C>G (p.Pro52=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.41771750G= | CA2260177287 | JUP | c.105C= (p.Pro35=) n.233C= c.156C= (p.Pro52=) | |
17 | g.41771750G>T | CA500025956 | JUP | c.105C>A (p.Pro35=) n.233C>A c.156C>A (p.Pro52=) | |
17 | g.41771751G>A | CA399506985 | JUP | c.104C>T (p.Pro35Leu) n.232C>T c.155C>T (p.Pro52Leu) | COSMIC |
17 | g.41771751G>C | CA399506987 | JUP | c.104C>G (p.Pro35Arg) n.232C>G c.155C>G (p.Pro52Arg) | |
17 | g.41771751G>T | CA399506988 | JUP | c.104C>A (p.Pro35His) n.232C>A c.155C>A (p.Pro52His) | |
17 | g.41771752G>A | CA399506990 | JUP | c.103C>T (p.Pro35Ser) n.231C>T c.154C>T (p.Pro52Ser) | |
17 | g.41771752G>C | CA399506992 | JUP | c.103C>G (p.Pro35Ala) n.231C>G c.154C>G (p.Pro52Ala) | |
17 | g.41771752G= | CA2260177288 | JUP | c.103C= (p.Pro35=) n.231C= c.154C= (p.Pro52=) | |
17 | g.41771752G>T | CA8565584 | JUP | c.103C>A (p.Pro35Thr) n.231C>A c.154C>A (p.Pro52Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.41771753C>A | CA500025968 | JUP | c.102G>T (p.Val34=) n.230G>T c.153G>T (p.Val51=) | |
17 | g.41771753C>G | CA500025965 | JUP | c.102G>C (p.Val34=) n.230G>C c.153G>C (p.Val51=) | |
17 | g.41771753C>T | CA500025967 | JUP | c.102G>A (p.Val34=) n.230G>A c.153G>A (p.Val51=) | |
17 | g.41771754A>C | CA399506994 | JUP | c.101T>G (p.Val34Gly) n.229T>G c.152T>G (p.Val51Gly) | |
17 | g.41771754A>G | CA399506996 | JUP | c.101T>C (p.Val34Ala) n.229T>C c.152T>C (p.Val51Ala) | |
17 | g.41771754A>T | CA399506998 | JUP | c.101T>A (p.Val34Glu) n.229T>A c.152T>A (p.Val51Glu) | |
17 | g.41771755C>A | CA399507001 | JUP | c.100G>T (p.Val34Leu) n.228G>T c.151G>T (p.Val51Leu) | gnomAD v4 |
17 | g.41771755C= | CA2260177289 | JUP | c.100G= (p.Val34=) n.228G= c.151G= (p.Val51=) |