Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
17 | g.41771755C>G | CA399507003 | JUP | c.100G>C (p.Val34Leu) n.228G>C c.151G>C (p.Val51Leu) | |
17 | g.41771755C>T | CA308441 | JUP | c.100G>A (p.Val34Met) n.228G>A c.151G>A (p.Val51Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.41771755_41771756insCT | CA2515309945 | JUP | c.99_100insAG (p.Val34ArgfsTer?) n.227_228insAG c.150_151insAG (p.Val51ArgfsTer?) | |
17 | g.41771756G>A | CA8565585 | JUP | c.99C>T (p.Cys33=) n.227C>T c.150C>T (p.Cys50=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.41771756G>C | CA399507005 | JUP | c.99C>G (p.Cys33Trp) n.227C>G c.150C>G (p.Cys50Trp) | |
17 | g.41771756G= | CA2260177290 | JUP | c.99C= (p.Cys33=) n.227C= c.150C= (p.Cys50=) | |
17 | g.41771756G>T | CA399507007 | JUP | c.99C>A (p.Cys33Ter) n.227C>A c.150C>A (p.Cys50Ter) | |
17 | g.41771757C>A | CA399507009 | JUP | c.98G>T (p.Cys33Phe) n.226G>T c.149G>T (p.Cys50Phe) | ClinVar |
17 | g.41771757C>G | CA399507011 | JUP | c.98G>C (p.Cys33Ser) n.226G>C c.149G>C (p.Cys50Ser) | |
17 | g.41771757C>T | CA399507012 | JUP | c.98G>A (p.Cys33Tyr) n.226G>A c.149G>A (p.Cys50Tyr) | |
17 | g.41771757_41771758del | CA2544686739 | JUP | c.97_98del (p.Cys33ArgfsTer14) n.225_226del c.148_149del (p.Cys50ArgfsTer14) |