Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.41771697_41771738delCA645574074JUPc.119_160del (p.Lys40_Tyr53del)
n.247_288del
c.170_211del (p.Lys57_Tyr70del)
COSMIC
17g.41771717A>CCA399506836JUPc.138T>G (p.Asp46Glu)
n.266T>G
c.189T>G (p.Asp63Glu)
17g.41771717A>GCA500025858JUPc.138T>C (p.Asp46=)
n.266T>C
c.189T>C (p.Asp63=)
17g.41771717A>TCA399506837JUPc.138T>A (p.Asp46Glu)
n.266T>A
c.189T>A (p.Asp63Glu)
17g.41771718T>ACA399506839JUPc.137A>T (p.Asp46Val)
n.265A>T
c.188A>T (p.Asp63Val)
gnomAD v4
17g.41771718T>CCA399506842JUPc.137A>G (p.Asp46Gly)
n.265A>G
c.188A>G (p.Asp63Gly)
17g.41771718T>GCA399506840JUPc.137A>C (p.Asp46Ala)
n.265A>C
c.188A>C (p.Asp63Ala)
17g.41771719C>ACA399506845JUPc.136G>T (p.Asp46Tyr)
n.264G>T
c.187G>T (p.Asp63Tyr)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.41771719C=CA2260177269JUPc.136G= (p.Asp46=)
n.264G=
c.187G= (p.Asp63=)
17g.41771719C>GCA399506846JUPc.136G>C (p.Asp46His)
n.264G>C
c.187G>C (p.Asp63His)
17g.41771719C>TCA8565577JUPc.136G>A (p.Asp46Asn)
n.264G>A
c.187G>A (p.Asp63Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.41771720C>ACA399506848JUPc.135G>T (p.Glu45Asp)
n.263G>T
c.186G>T (p.Glu62Asp)
17g.41771720C>GCA399506850JUPc.135G>C (p.Glu45Asp)
n.263G>C
c.186G>C (p.Glu62Asp)
ClinVar dbSNP
17g.41771720C>TCA500025867JUPc.135G>A (p.Glu45=)
n.263G>A
c.186G>A (p.Glu62=)
gnomAD v4
17g.41771721T>ACA399506852JUPc.134A>T (p.Glu45Val)
n.262A>T
c.185A>T (p.Glu62Val)
17g.41771721T>CCA399506854JUPc.134A>G (p.Glu45Gly)
n.262A>G
c.185A>G (p.Glu62Gly)
17g.41771721T>GCA399506856JUPc.134A>C (p.Glu45Ala)
n.262A>C
c.185A>C (p.Glu62Ala)
17g.41771722C>ACA399506858JUPc.133G>T (p.Glu45Ter)
n.261G>T
c.184G>T (p.Glu62Ter)
17g.41771722C=CA2260177270JUPc.133G= (p.Glu45=)
n.261G=
c.184G= (p.Glu62=)
17g.41771722C>GCA399506859JUPc.133G>C (p.Glu45Gln)
n.261G>C
c.184G>C (p.Glu62Gln)
17g.41771722C>TCA399506861JUPc.133G>A (p.Glu45Lys)
n.261G>A
c.184G>A (p.Glu62Lys)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.41771723C>ACA399506863JUPc.132G>T (p.Glu44Asp)
n.260G>T
c.183G>T (p.Glu61Asp)
17g.41771723C>GCA399506865JUPc.132G>C (p.Glu44Asp)
n.260G>C
c.183G>C (p.Glu61Asp)
gnomAD v4
17g.41771723C>TCA500025875JUPc.132G>A (p.Glu44=)
n.260G>A
c.183G>A (p.Glu61=)
ClinVar
17g.41771724T>ACA399506868JUPc.131A>T (p.Glu44Val)
n.259A>T
c.182A>T (p.Glu61Val)
17g.41771724T>CCA399506869JUPc.131A>G (p.Glu44Gly)
n.259A>G
c.182A>G (p.Glu61Gly)
17g.41771724T>GCA399506871JUPc.131A>C (p.Glu44Ala)
n.259A>C
c.182A>C (p.Glu61Ala)
17g.41771725C>ACA399506873JUPc.130G>T (p.Glu44Ter)
n.258G>T
c.181G>T (p.Glu61Ter)
17g.41771725C>GCA399506875JUPc.130G>C (p.Glu44Gln)
n.258G>C
c.181G>C (p.Glu61Gln)
17g.41771725C>TCA399506877JUPc.130G>A (p.Glu44Lys)
n.258G>A
c.181G>A (p.Glu61Lys)
17g.41771726C>ACA399506879JUPc.129G>T (p.Met43Ile)
n.257G>T
c.180G>T (p.Met60Ile)
17g.41771726C=CA2260177271JUPc.129G= (p.Met43=)
n.257G=
c.180G= (p.Met60=)
17g.41771726C>GCA399506881JUPc.129G>C (p.Met43Ile)
n.257G>C
c.180G>C (p.Met60Ile)
17g.41771726C>TCA399506883JUPc.129G>A (p.Met43Ile)
n.257G>A
c.180G>A (p.Met60Ile)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.41771727A=CA2260177272JUPc.128T= (p.Met43=)
n.256T=
c.179T= (p.Met60=)
17g.41771727A>CCA399506885JUPc.128T>G (p.Met43Arg)
n.256T>G
c.179T>G (p.Met60Arg)
17g.41771727A>GCA399506887JUPc.128T>C (p.Met43Thr)
n.256T>C
c.179T>C (p.Met60Thr)
dbSNP gnomAD v4
17g.41771727A>TCA399506889JUPc.128T>A (p.Met43Lys)
n.256T>A
c.179T>A (p.Met60Lys)
dbSNP gnomAD v3 gnomAD v4
17g.41771728T>ACA399506895JUPc.127A>T (p.Met43Leu)
n.255A>T
c.178A>T (p.Met60Leu)
17g.41771728T>CCA399506893JUPc.127A>G (p.Met43Val)
n.255A>G
c.178A>G (p.Met60Val)
ClinVar dbSNP gnomAD v4
17g.41771728T>GCA399506891JUPc.127A>C (p.Met43Leu)
n.255A>C
c.178A>C (p.Met60Leu)
17g.41771728T=CA2260177273JUPc.127A= (p.Met43=)
n.255A=
c.178A= (p.Met60=)
17g.41771729G>ACA500025891JUPc.126C>T (p.Ile42=)
n.254C>T
c.177C>T (p.Ile59=)
dbSNP
17g.41771729G>CCA399506896JUPc.126C>G (p.Ile42Met)
n.254C>G
c.177C>G (p.Ile59Met)
17g.41771729G=CA2260177274JUPc.126C= (p.Ile42=)
n.254C=
c.177C= (p.Ile59=)
17g.41771729G>TCA500025894JUPc.126C>A (p.Ile42=)
n.254C>A
c.177C>A (p.Ile59=)
17g.41771730A=CA2260177275JUPc.125T= (p.Ile42=)
n.253T=
c.176T= (p.Ile59=)
17g.41771730A>CCA399506899JUPc.125T>G (p.Ile42Ser)
n.253T>G
c.176T>G (p.Ile59Ser)
17g.41771730A>GCA399506900JUPc.125T>C (p.Ile42Thr)
n.253T>C
c.176T>C (p.Ile59Thr)
17g.41771730A>TCA8565578JUPc.125T>A (p.Ile42Asn)
n.253T>A
c.176T>A (p.Ile59Asn)
dbSNP ExAC gnomAD v2
17g.41771731T>ACA399506902JUPc.124A>T (p.Ile42Phe)
n.252A>T
c.175A>T (p.Ile59Phe)
17g.41771731T>CCA399506904JUPc.124A>G (p.Ile42Val)
n.252A>G
c.175A>G (p.Ile59Val)
17g.41771731T>GCA399506906JUPc.124A>C (p.Ile42Leu)
n.252A>C
c.175A>C (p.Ile59Leu)
17g.41771732G>ACA500025904JUPc.123C>T (p.Gly41=)
n.251C>T
c.174C>T (p.Gly58=)
17g.41771732G>CCA500025905JUPc.123C>G (p.Gly41=)
n.251C>G
c.174C>G (p.Gly58=)
17g.41771732G>TCA500025906JUPc.123C>A (p.Gly41=)
n.251C>A
c.174C>A (p.Gly58=)
17g.41771733C>ACA399506908JUPc.122G>T (p.Gly41Val)
n.250G>T
c.173G>T (p.Gly58Val)
17g.41771733C>GCA399506909JUPc.122G>C (p.Gly41Ala)
n.250G>C
c.173G>C (p.Gly58Ala)
dbSNP
17g.41771733C>TCA399506911JUPc.122G>A (p.Gly41Asp)
n.250G>A
c.173G>A (p.Gly58Asp)
ClinVar gnomAD v4
17g.41771734C>ACA399506912JUPc.121G>T (p.Gly41Cys)
n.249G>T
c.172G>T (p.Gly58Cys)
gnomAD v4
17g.41771734C>GCA399506913JUPc.121G>C (p.Gly41Arg)
n.249G>C
c.172G>C (p.Gly58Arg)
17g.41771734C>TCA399506914JUPc.121G>A (p.Gly41Ser)
n.249G>A
c.172G>A (p.Gly58Ser)
ClinVar gnomAD v4
17g.41771735C>ACA399506916JUPc.120G>T (p.Lys40Asn)
n.248G>T
c.171G>T (p.Lys57Asn)
17g.41771735C>GCA399506918JUPc.120G>C (p.Lys40Asn)
n.248G>C
c.171G>C (p.Lys57Asn)
17g.41771735C>TCA500025911JUPc.120G>A (p.Lys40=)
n.248G>A
c.171G>A (p.Lys57=)
17g.41771736T>ACA399506920JUPc.119A>T (p.Lys40Met)
n.247A>T
c.170A>T (p.Lys57Met)
17g.41771736T>CCA399506924JUPc.119A>G (p.Lys40Arg)
n.247A>G
c.170A>G (p.Lys57Arg)
17g.41771736T>GCA399506922JUPc.119A>C (p.Lys40Thr)
n.247A>C
c.170A>C (p.Lys57Thr)
17g.41771736_41771739delinsTTGCCA2260177276JUPc.116_119delinsGCAA (p.Ser39=)
n.244_247delinsGCAA
c.167_170delinsGCAA (p.Ser56=)
17g.41771737T>ACA399506929JUPc.118A>T (p.Lys40Ter)
n.246A>T
c.169A>T (p.Lys57Ter)
17g.41771737T>CCA399506931JUPc.118A>G (p.Lys40Glu)
n.246A>G
c.169A>G (p.Lys57Glu)
17g.41771737T>GCA399506932JUPc.118A>C (p.Lys40Gln)
n.246A>C
c.169A>C (p.Lys57Gln)
17g.41771742_41771744dupCA341294JUPc.116_118dup (p.Ser39_Lys40insSer)
n.244_246dup
c.167_169dup (p.Ser56_Lys57insSer)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.41771742_41771744delCA8565579JUPc.116_118del (p.Ser39del)
n.244_246del
c.167_169del (p.Ser56del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.41771738G>ACA500025921JUPc.117C>T (p.Ser39=)
n.245C>T
c.168C>T (p.Ser56=)
17g.41771738G>CCA399506935JUPc.117C>G (p.Ser39Arg)
n.245C>G
c.168C>G (p.Ser56Arg)
gnomAD v4
17g.41771738G>TCA399506937JUPc.117C>A (p.Ser39Arg)
n.245C>A
c.168C>A (p.Ser56Arg)
17g.41771739C>ACA399506939JUPc.116G>T (p.Ser39Ile)
n.244G>T
c.167G>T (p.Ser56Ile)
17g.41771739C=CA2260177277JUPc.116G= (p.Ser39=)
n.244G=
c.167G= (p.Ser56=)
17g.41771739C>GCA399506940JUPc.116G>C (p.Ser39Thr)
n.244G>C
c.167G>C (p.Ser56Thr)
17g.41771739C>TCA399506942JUPc.116G>A (p.Ser39Asn)
n.244G>A
c.167G>A (p.Ser56Asn)
dbSNP gnomAD v2 gnomAD v4
17g.41771740T>ACA399506945JUPc.115A>T (p.Ser39Cys)
n.243A>T
c.166A>T (p.Ser56Cys)
17g.41771740T>CCA8565580JUPc.115A>G (p.Ser39Gly)
n.243A>G
c.166A>G (p.Ser56Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41771740T>GCA399506947JUPc.115A>C (p.Ser39Arg)
n.243A>C
c.166A>C (p.Ser56Arg)
17g.41771740T=CA2260177278JUPc.115A= (p.Ser39=)
n.243A=
c.166A= (p.Ser56=)
17g.41771740_41771741delinsTGCA2260177279JUPc.114_115delinsCA (p.Ser38=)
n.242_243delinsCA
c.165_166delinsCA (p.Ser55=)
17g.41771741delCA2260177280JUPc.114del (p.Ser38ArgfsTer?)
n.242del
c.165del (p.Ser55ArgfsTer?)
dbSNP
17g.41771741G>ACA500025929JUPc.114C>T (p.Ser38=)
n.242C>T
c.165C>T (p.Ser55=)
dbSNP
17g.41771741G>CCA399506949JUPc.114C>G (p.Ser38Arg)
n.242C>G
c.165C>G (p.Ser55Arg)
17g.41771741G=CA2260177281JUPc.114C= (p.Ser38=)
n.242C=
c.165C= (p.Ser55=)
17g.41771741G>TCA8565581JUPc.114C>A (p.Ser38Arg)
n.242C>A
c.165C>A (p.Ser55Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.41771742C>ACA399506951JUPc.113G>T (p.Ser38Ile)
n.241G>T
c.164G>T (p.Ser55Ile)
17g.41771742C>GCA399506953JUPc.113G>C (p.Ser38Thr)
n.241G>C
c.164G>C (p.Ser55Thr)
17g.41771742C>TCA399506955JUPc.113G>A (p.Ser38Asn)
n.241G>A
c.164G>A (p.Ser55Asn)
COSMIC
17g.41771743T>ACA399506956JUPc.112A>T (p.Ser38Cys)
n.240A>T
c.163A>T (p.Ser55Cys)
17g.41771743T>CCA399506957JUPc.112A>G (p.Ser38Gly)
n.240A>G
c.163A>G (p.Ser55Gly)
17g.41771743T>GCA399506959JUPc.112A>C (p.Ser38Arg)
n.240A>C
c.163A>C (p.Ser55Arg)
17g.41771744G>ACA500025935JUPc.111C>T (p.Val37=)
n.239C>T
c.162C>T (p.Val54=)
ClinVar dbSNP
17g.41771744G>CCA500025938JUPc.111C>G (p.Val37=)
n.239C>G
c.162C>G (p.Val54=)
17g.41771744G>TCA500025940JUPc.111C>A (p.Val37=)
n.239C>A
c.162C>A (p.Val54=)
17g.41771745A>CCA399506965JUPc.110T>G (p.Val37Gly)
n.238T>G
c.161T>G (p.Val54Gly)
17g.41771745A>GCA399506962JUPc.110T>C (p.Val37Ala)
n.238T>C
c.161T>C (p.Val54Ala)
17g.41771745A>TCA399506963JUPc.110T>A (p.Val37Asp)
n.238T>A
c.161T>A (p.Val54Asp)
gnomAD v4
17g.41771746C>ACA399506967JUPc.109G>T (p.Val37Phe)
n.237G>T
c.160G>T (p.Val54Phe)
17g.41771746C=CA2260177282JUPc.109G= (p.Val37=)
n.237G=
c.160G= (p.Val54=)
17g.41771746C>GCA399506969JUPc.109G>C (p.Val37Leu)
n.237G>C
c.160G>C (p.Val54Leu)
17g.41771746C>TCA8565582JUPc.109G>A (p.Val37Ile)
n.237G>A
c.160G>A (p.Val54Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41771746_41771749delinsCGGACA2260177283JUPc.106_109delinsTCCG (p.Ser36=)
n.234_237delinsTCCG
c.157_160delinsTCCG (p.Ser53=)
17g.41771747G>ACA8565583JUPc.108C>T (p.Ser36=)
n.236C>T
c.159C>T (p.Ser53=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41771747G>CCA500025947JUPc.108C>G (p.Ser36=)
n.236C>G
c.159C>G (p.Ser53=)
17g.41771747G=CA2260177285JUPc.108C= (p.Ser36=)
n.236C=
c.159C= (p.Ser53=)
17g.41771747G>TCA399506972JUPc.108C>A (p.Ser36=)
n.236C>A
c.159C>A (p.Ser53=)
dbSNP
17g.41771749_41771751delCA2260177284JUPc.106_108del (p.Ser36del)
n.234_236del
c.157_159del (p.Ser53del)
dbSNP
17g.41771748G>ACA399506974JUPc.107C>T (p.Ser36Phe)
n.235C>T
c.158C>T (p.Ser53Phe)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.41771748G>CCA399506977JUPc.107C>G (p.Ser36Cys)
n.235C>G
c.158C>G (p.Ser53Cys)
17g.41771748G=CA2260177286JUPc.107C= (p.Ser36=)
n.235C=
c.158C= (p.Ser53=)
17g.41771748G>TCA399506976JUPc.107C>A (p.Ser36Tyr)
n.235C>A
c.158C>A (p.Ser53Tyr)
17g.41771749A>CCA399506979JUPc.106T>G (p.Ser36Ala)
n.234T>G
c.157T>G (p.Ser53Ala)
17g.41771749A>GCA399506981JUPc.106T>C (p.Ser36Pro)
n.234T>C
c.157T>C (p.Ser53Pro)
17g.41771749A>TCA399506983JUPc.106T>A (p.Ser36Thr)
n.234T>A
c.157T>A (p.Ser53Thr)
17g.41771750G>ACA500025954JUPc.105C>T (p.Pro35=)
n.233C>T
c.156C>T (p.Pro52=)
17g.41771750G>CCA500025959JUPc.105C>G (p.Pro35=)
n.233C>G
c.156C>G (p.Pro52=)
dbSNP gnomAD v3 gnomAD v4
17g.41771750G=CA2260177287JUPc.105C= (p.Pro35=)
n.233C=
c.156C= (p.Pro52=)
17g.41771750G>TCA500025956JUPc.105C>A (p.Pro35=)
n.233C>A
c.156C>A (p.Pro52=)
17g.41771751G>ACA399506985JUPc.104C>T (p.Pro35Leu)
n.232C>T
c.155C>T (p.Pro52Leu)
COSMIC
17g.41771751G>CCA399506987JUPc.104C>G (p.Pro35Arg)
n.232C>G
c.155C>G (p.Pro52Arg)
17g.41771751G>TCA399506988JUPc.104C>A (p.Pro35His)
n.232C>A
c.155C>A (p.Pro52His)
17g.41771752G>ACA399506990JUPc.103C>T (p.Pro35Ser)
n.231C>T
c.154C>T (p.Pro52Ser)
17g.41771752G>CCA399506992JUPc.103C>G (p.Pro35Ala)
n.231C>G
c.154C>G (p.Pro52Ala)
17g.41771752G=CA2260177288JUPc.103C= (p.Pro35=)
n.231C=
c.154C= (p.Pro52=)
17g.41771752G>TCA8565584JUPc.103C>A (p.Pro35Thr)
n.231C>A
c.154C>A (p.Pro52Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.41771753C>ACA500025968JUPc.102G>T (p.Val34=)
n.230G>T
c.153G>T (p.Val51=)
17g.41771753C>GCA500025965JUPc.102G>C (p.Val34=)
n.230G>C
c.153G>C (p.Val51=)
17g.41771753C>TCA500025967JUPc.102G>A (p.Val34=)
n.230G>A
c.153G>A (p.Val51=)
17g.41771754A>CCA399506994JUPc.101T>G (p.Val34Gly)
n.229T>G
c.152T>G (p.Val51Gly)
17g.41771754A>GCA399506996JUPc.101T>C (p.Val34Ala)
n.229T>C
c.152T>C (p.Val51Ala)
17g.41771754A>TCA399506998JUPc.101T>A (p.Val34Glu)
n.229T>A
c.152T>A (p.Val51Glu)
17g.41771755C>ACA399507001JUPc.100G>T (p.Val34Leu)
n.228G>T
c.151G>T (p.Val51Leu)
gnomAD v4
17g.41771755C=CA2260177289JUPc.100G= (p.Val34=)
n.228G=
c.151G= (p.Val51=)
17g.41771755C>GCA399507003JUPc.100G>C (p.Val34Leu)
n.228G>C
c.151G>C (p.Val51Leu)
17g.41771755C>TCA308441JUPc.100G>A (p.Val34Met)
n.228G>A
c.151G>A (p.Val51Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.41771755_41771756insCTCA2515309945JUPc.99_100insAG (p.Val34ArgfsTer?)
n.227_228insAG
c.150_151insAG (p.Val51ArgfsTer?)
17g.41771756G>ACA8565585JUPc.99C>T (p.Cys33=)
n.227C>T
c.150C>T (p.Cys50=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.41771756G>CCA399507005JUPc.99C>G (p.Cys33Trp)
n.227C>G
c.150C>G (p.Cys50Trp)
17g.41771756G=CA2260177290JUPc.99C= (p.Cys33=)
n.227C=
c.150C= (p.Cys50=)
17g.41771756G>TCA399507007JUPc.99C>A (p.Cys33Ter)
n.227C>A
c.150C>A (p.Cys50Ter)
17g.41771757C>ACA399507009JUPc.98G>T (p.Cys33Phe)
n.226G>T
c.149G>T (p.Cys50Phe)
ClinVar
17g.41771757C>GCA399507011JUPc.98G>C (p.Cys33Ser)
n.226G>C
c.149G>C (p.Cys50Ser)
17g.41771757C>TCA399507012JUPc.98G>A (p.Cys33Tyr)
n.226G>A
c.149G>A (p.Cys50Tyr)
17g.41771757_41771758delCA2544686739JUPc.97_98del (p.Cys33ArgfsTer14)
n.225_226del
c.148_149del (p.Cys50ArgfsTer14)
17g.41771758A=CA2260177291JUPc.97T= (p.Cys33=)
n.225T=
c.148T= (p.Cys50=)
17g.41771758A>CCA399507015JUPc.97T>G (p.Cys33Gly)
n.225T>G
c.148T>G (p.Cys50Gly)
17g.41771758A>GCA399507018JUPc.97T>C (p.Cys33Arg)
n.225T>C
c.148T>C (p.Cys50Arg)
dbSNP gnomAD v3 gnomAD v4
17g.41771758A>TCA399507016JUPc.97T>A (p.Cys33Ser)
n.225T>A
c.148T>A (p.Cys50Ser)
17g.41771759G>ACA290701395JUPc.96C>T (p.Thr32=)
n.224C>T
c.147C>T (p.Thr49=)
ClinVar dbSNP
17g.41771759G>CCA500025983JUPc.96C>G (p.Thr32=)
n.224C>G
c.147C>G (p.Thr49=)
17g.41771759G=CA2260177292JUPc.96C= (p.Thr32=)
n.224C=
c.147C= (p.Thr49=)
17g.41771759G>TCA500025984JUPc.96C>A (p.Thr32=)
n.224C>A
c.147C>A (p.Thr49=)
17g.41771760delCA2809501790JUPc.96del (p.Cys33AlafsTer?)
n.224del
c.147del (p.Cys50AlafsTer?)
17g.41771760G>ACA399507021JUPc.95C>T (p.Thr32Ile)
n.223C>T
c.146C>T (p.Thr49Ile)
ClinVar dbSNP gnomAD v4
17g.41771760G>CCA399507022JUPc.95C>G (p.Thr32Ser)
n.223C>G
c.146C>G (p.Thr49Ser)
17g.41771760G=CA2260177293JUPc.95C= (p.Thr32=)
n.223C=
c.146C= (p.Thr49=)
17g.41771760G>TCA399507024JUPc.95C>A (p.Thr32Asn)
n.223C>A
c.146C>A (p.Thr49Asn)
17g.41771761T>ACA399507027JUPc.94A>T (p.Thr32Ser)
n.222A>T
c.145A>T (p.Thr49Ser)
17g.41771761T>CCA399507029JUPc.94A>G (p.Thr32Ala)
n.222A>G
c.145A>G (p.Thr49Ala)
17g.41771761T>GCA399507028JUPc.94A>C (p.Thr32Pro)
n.222A>C
c.145A>C (p.Thr49Pro)
17g.41771762G>ACA500025993JUPc.93C>T (p.Asn31=)
n.221C>T
c.144C>T (p.Asn48=)
ClinVar dbSNP gnomAD v4
17g.41771762G>CCA399507030JUPc.93C>G (p.Asn31Lys)
n.221C>G
c.144C>G (p.Asn48Lys)
17g.41771762G=CA2260177294JUPc.93C= (p.Asn31=)
n.221C=
c.144C= (p.Asn48=)
17g.41771762G>TCA399507032JUPc.93C>A (p.Asn31Lys)
n.221C>A
c.144C>A (p.Asn48Lys)
COSMIC
17g.41771763T>ACA399507034JUPc.92A>T (p.Asn31Ile)
n.220A>T
c.143A>T (p.Asn48Ile)
17g.41771763T>CCA399507036JUPc.92A>G (p.Asn31Ser)
n.220A>G
c.143A>G (p.Asn48Ser)
17g.41771763T>GCA399507038JUPc.92A>C (p.Asn31Thr)
n.220A>C
c.143A>C (p.Asn48Thr)
17g.41771764T>ACA399507039JUPc.91A>T (p.Asn31Tyr)
n.219A>T
c.142A>T (p.Asn48Tyr)
17g.41771764T>CCA399507041JUPc.91A>G (p.Asn31Asp)
n.219A>G
c.142A>G (p.Asn48Asp)
17g.41771764T>GCA399507043JUPc.91A>C (p.Asn31His)
n.219A>C
c.142A>C (p.Asn48His)
gnomAD v4
17g.41771765G>ACA500026000JUPc.90C>T (p.Ala30=)
n.218C>T
c.141C>T (p.Ala47=)
17g.41771765G>CCA500025998JUPc.90C>G (p.Ala30=)
n.218C>G
c.141C>G (p.Ala47=)
17g.41771765G>TCA500025999JUPc.90C>A (p.Ala30=)
n.218C>A
c.141C>A (p.Ala47=)
17g.41771766G>ACA399507044JUPc.89C>T (p.Ala30Val)
n.217C>T
c.140C>T (p.Ala47Val)
dbSNP
17g.41771766G>CCA399507048JUPc.89C>G (p.Ala30Gly)
n.217C>G
c.140C>G (p.Ala47Gly)
17g.41771766G=CA2260177295JUPc.89C= (p.Ala30=)
n.217C=
c.140C= (p.Ala47=)
17g.41771766G>TCA399507046JUPc.89C>A (p.Ala30Asp)
n.217C>A
c.140C>A (p.Ala47Asp)
17g.41771766_41771782delinsGCGCCCGAGTGGATACCCA2260177296JUPc.73_89delinsGGTATCCACTCGGGCGC (p.Gly25=)
n.201_217delinsGGTATCCACTCGGGCGC
c.124_140delinsGGTATCCACTCGGGCGC (p.Gly42=)
17g.41771767C>ACA399507050JUPc.88G>T (p.Ala30Ser)
n.216G>T
c.139G>T (p.Ala47Ser)
17g.41771767C=CA2260177297JUPc.88G= (p.Ala30=)
n.216G=
c.139G= (p.Ala47=)
17g.41771767C>GCA399507052JUPc.88G>C (p.Ala30Pro)
n.216G>C
c.139G>C (p.Ala47Pro)
17g.41771767C>TCA8565586JUPc.88G>A (p.Ala30Thr)
n.216G>A
c.139G>A (p.Ala47Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41771769_41771784delCA1139665528JUPc.73_88del (p.Gly25ProfsTer?)
n.201_216del
c.124_139del (p.Gly42ProfsTer?)
ClinVar dbSNP
17g.41771768G>ACA8565587JUPc.87C>T (p.Gly29=)
n.215C>T
c.138C>T (p.Gly46=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41771768G>CCA500026007JUPc.87C>G (p.Gly29=)
n.215C>G
c.138C>G (p.Gly46=)
ClinVar gnomAD v4
17g.41771768G=CA2260177298JUPc.87C= (p.Gly29=)
n.215C=
c.138C= (p.Gly46=)
17g.41771768G>TCA500026009JUPc.87C>A (p.Gly29=)
n.215C>A
c.138C>A (p.Gly46=)
ClinVar dbSNP
17g.41771769C>ACA399507056JUPc.86G>T (p.Gly29Val)
n.214G>T
c.137G>T (p.Gly46Val)
17g.41771769C>GCA399507059JUPc.86G>C (p.Gly29Ala)
n.214G>C
c.137G>C (p.Gly46Ala)
17g.41771769C>TCA399507058JUPc.86G>A (p.Gly29Asp)
n.214G>A
c.137G>A (p.Gly46Asp)
17g.41771770C>ACA399507061JUPc.85G>T (p.Gly29Cys)
n.213G>T
c.136G>T (p.Gly46Cys)
17g.41771770C=CA2260177299JUPc.85G= (p.Gly29=)
n.213G=
c.136G= (p.Gly46=)
17g.41771770C>GCA399507063JUPc.85G>C (p.Gly29Arg)
n.213G>C
c.136G>C (p.Gly46Arg)
17g.41771770C>TCA8565588JUPc.85G>A (p.Gly29Ser)
n.213G>A
c.136G>A (p.Gly46Ser)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.41771771C>ACA500026016JUPc.84G>T (p.Ser28=)
n.212G>T
c.135G>T (p.Ser45=)
gnomAD v4
17g.41771771C=CA2260177300JUPc.84G= (p.Ser28=)
n.212G=
c.135G= (p.Ser45=)
17g.41771771C>GCA500026018JUPc.84G>C (p.Ser28=)
n.212G>C
c.135G>C (p.Ser45=)
ClinVar dbSNP
17g.41771771C>TCA8565589JUPc.84G>A (p.Ser28=)
n.212G>A
c.135G>A (p.Ser45=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41771772G>ACA290701403JUPc.83C>T (p.Ser28Leu)
n.211C>T
c.134C>T (p.Ser45Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.41771772G>CCA399507068JUPc.83C>G (p.Ser28Trp)
n.211C>G
c.134C>G (p.Ser45Trp)
17g.41771772G=CA2260177301JUPc.83C= (p.Ser28=)
n.211C=
c.134C= (p.Ser45=)
17g.41771772G>TCA399507069JUPc.83C>A (p.Ser28Ter)
n.211C>A
c.134C>A (p.Ser45Ter)
17g.41771773A>CCA399507072JUPc.82T>G (p.Ser28Ala)
n.210T>G
c.133T>G (p.Ser45Ala)
17g.41771773A>GCA399507074JUPc.82T>C (p.Ser28Pro)
n.210T>C
c.133T>C (p.Ser45Pro)
17g.41771773A>TCA399507075JUPc.82T>A (p.Ser28Thr)
n.210T>A
c.133T>A (p.Ser45Thr)
17g.41771774G>ACA500026026JUPc.81C>T (p.His27=)
n.209C>T
c.132C>T (p.His44=)
17g.41771774G>CCA399507077JUPc.81C>G (p.His27Gln)
n.209C>G
c.132C>G (p.His44Gln)
17g.41771774G>TCA399507078JUPc.81C>A (p.His27Gln)
n.209C>A
c.132C>A (p.His44Gln)
17g.41771775T>ACA399507080JUPc.80A>T (p.His27Leu)
n.208A>T
c.131A>T (p.His44Leu)
17g.41771775T>CCA399507083JUPc.80A>G (p.His27Arg)
n.208A>G
c.131A>G (p.His44Arg)
17g.41771775T>GCA399507082JUPc.80A>C (p.His27Pro)
n.208A>C
c.131A>C (p.His44Pro)
17g.41771776G>ACA399507084JUPc.79C>T (p.His27Tyr)
n.207C>T
c.130C>T (p.His44Tyr)
gnomAD v4
17g.41771776G>CCA399507085JUPc.79C>G (p.His27Asp)
n.207C>G
c.130C>G (p.His44Asp)
17g.41771776G>TCA399507086JUPc.79C>A (p.His27Asn)
n.207C>A
c.130C>A (p.His44Asn)
17g.41771777G>ACA500026039JUPc.78C>T (p.Ile26=)
n.206C>T
c.129C>T (p.Ile43=)
17g.41771777G>CCA399507088JUPc.78C>G (p.Ile26Met)
n.206C>G
c.129C>G (p.Ile43Met)
ClinVar
17g.41771777G>TCA500026036JUPc.78C>A (p.Ile26=)
n.206C>A
c.129C>A (p.Ile43=)
17g.41771778A>CCA399507090JUPc.77T>G (p.Ile26Ser)
n.205T>G
c.128T>G (p.Ile43Ser)
17g.41771778A>GCA399507092JUPc.77T>C (p.Ile26Thr)
n.205T>C
c.128T>C (p.Ile43Thr)
17g.41771778A>TCA399507093JUPc.77T>A (p.Ile26Asn)
n.205T>A
c.128T>A (p.Ile43Asn)
17g.41771779T>ACA399507096JUPc.76A>T (p.Ile26Phe)
n.204A>T
c.127A>T (p.Ile43Phe)
17g.41771779T>CCA399507097JUPc.76A>G (p.Ile26Val)
n.204A>G
c.127A>G (p.Ile43Val)
gnomAD v4
17g.41771779T>GCA399507099JUPc.76A>C (p.Ile26Leu)
n.204A>C
c.127A>C (p.Ile43Leu)
ClinVar gnomAD v4
17g.41771780A=CA2260177302JUPc.75T= (p.Gly25=)
n.203T=
c.126T= (p.Gly42=)
17g.41771780A>CCA500026045JUPc.75T>G (p.Gly25=)
n.203T>G
c.126T>G (p.Gly42=)
ClinVar dbSNP gnomAD v4
17g.41771780A>GCA500026047JUPc.75T>C (p.Gly25=)
n.203T>C
c.126T>C (p.Gly42=)
17g.41771780A>TCA500026049JUPc.75T>A (p.Gly25=)
n.203T>A
c.126T>A (p.Gly42=)
17g.41771781C>ACA8565590JUPc.74G>T (p.Gly25Val)
n.202G>T
c.125G>T (p.Gly42Val)
dbSNP ExAC gnomAD v2
17g.41771781C=CA2260177303JUPc.74G= (p.Gly25=)
n.202G=
c.125G= (p.Gly42=)
17g.41771781C>GCA399507100JUPc.74G>C (p.Gly25Ala)
n.202G>C
c.125G>C (p.Gly42Ala)
17g.41771781C>TCA399507101JUPc.74G>A (p.Gly25Asp)
n.202G>A
c.125G>A (p.Gly42Asp)
gnomAD v4
17g.41771782C>ACA399507107JUPc.73G>T (p.Gly25Cys)
n.201G>T
c.124G>T (p.Gly42Cys)
17g.41771782C>GCA399507104JUPc.73G>C (p.Gly25Arg)
n.201G>C
c.124G>C (p.Gly42Arg)
17g.41771782C>TCA399507106JUPc.73G>A (p.Gly25Ser)
n.201G>A
c.124G>A (p.Gly42Ser)
ClinVar gnomAD v4
17g.41771783C>ACA500026056JUPc.72G>T (p.Ser24=)
n.200G>T
c.123G>T (p.Ser41=)
dbSNP
17g.41771783C=CA2260177304JUPc.72G= (p.Ser24=)
n.200G=
c.123G= (p.Ser41=)
17g.41771783C>GCA500026058JUPc.72G>C (p.Ser24=)
n.200G>C
c.123G>C (p.Ser41=)
dbSNP
17g.41771783C>TCA500026059JUPc.72G>A (p.Ser24=)
n.200G>A
c.123G>A (p.Ser41=)
dbSNP gnomAD v2 gnomAD v4
17g.41771784G>ACA308436JUPc.71C>T (p.Ser24Leu)
n.199C>T
c.122C>T (p.Ser41Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.41771784G>CCA399507110JUPc.71C>G (p.Ser24Trp)
n.199C>G
c.122C>G (p.Ser41Trp)
17g.41771784G=CA2260177305JUPc.71C= (p.Ser24=)
n.199C=
c.122C= (p.Ser41=)
17g.41771784G>TCA212715JUPc.71C>A (p.Ser24Ter)
n.199C>A
c.122C>A (p.Ser41Ter)
ClinVar dbSNP
17g.41771785A>CCA399507113JUPc.70T>G (p.Ser24Ala)
n.198T>G
c.121T>G (p.Ser41Ala)
17g.41771785A>GCA399507114JUPc.70T>C (p.Ser24Pro)
n.198T>C
c.121T>C (p.Ser41Pro)
17g.41771785A>TCA399507116JUPc.70T>A (p.Ser24Thr)
n.198T>A
c.121T>A (p.Ser41Thr)
17g.41771786G>ACA500026065JUPc.69C>T (p.Asp23=)
n.197C>T
c.120C>T (p.Asp40=)
17g.41771786G>CCA399507118JUPc.69C>G (p.Asp23Glu)
n.197C>G
c.120C>G (p.Asp40Glu)
ClinVar
17g.41771786G>TCA399507120JUPc.69C>A (p.Asp23Glu)
n.197C>A
c.120C>A (p.Asp40Glu)
17g.41771787T>ACA399507122JUPc.68A>T (p.Asp23Val)
n.196A>T
c.119A>T (p.Asp40Val)
17g.41771787T>CCA399507123JUPc.68A>G (p.Asp23Gly)
n.196A>G
c.119A>G (p.Asp40Gly)
17g.41771787T>GCA399507125JUPc.68A>C (p.Asp23Ala)
n.196A>C
c.119A>C (p.Asp40Ala)
17g.41771788C>ACA399507127JUPc.67G>T (p.Asp23Tyr)
n.195G>T
c.118G>T (p.Asp40Tyr)
gnomAD v4
17g.41771788C>GCA399507131JUPc.67G>C (p.Asp23His)
n.195G>C
c.118G>C (p.Asp40His)
17g.41771788C>TCA399507129JUPc.67G>A (p.Asp23Asn)
n.195G>A
c.118G>A (p.Asp40Asn)
ClinVar gnomAD v4 COSMIC
17g.41771789G>ACA8565591JUPc.66C>T (p.Tyr22=)
n.194C>T
c.117C>T (p.Tyr39=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41771789G>CCA399507135JUPc.66C>G (p.Tyr22Ter)
n.194C>G
c.117C>G (p.Tyr39Ter)
17g.41771789G=CA2260177306JUPc.66C= (p.Tyr22=)
n.194C=
c.117C= (p.Tyr39=)
17g.41771789G>TCA399507133JUPc.66C>A (p.Tyr22Ter)
n.194C>A
c.117C>A (p.Tyr39Ter)
17g.41771790T>ACA399507138JUPc.65A>T (p.Tyr22Phe)
n.193A>T
c.116A>T (p.Tyr39Phe)
17g.41771790T>CCA399507139JUPc.65A>G (p.Tyr22Cys)
n.193A>G
c.116A>G (p.Tyr39Cys)
17g.41771790T>GCA399507141JUPc.65A>C (p.Tyr22Ser)
n.193A>C
c.116A>C (p.Tyr39Ser)
17g.41771791A>CCA399507143JUPc.64T>G (p.Tyr22Asp)
n.192T>G
c.115T>G (p.Tyr39Asp)
17g.41771791A>GCA399507145JUPc.64T>C (p.Tyr22His)
n.192T>C
c.115T>C (p.Tyr39His)
17g.41771791A>TCA399507147JUPc.64T>A (p.Tyr22Asn)
n.192T>A
c.115T>A (p.Tyr39Asn)
17g.41771792G>ACA500026083JUPc.63C>T (p.Thr21=)
n.191C>T
c.114C>T (p.Thr38=)
dbSNP gnomAD v4
17g.41771792G>CCA500026084JUPc.63C>G (p.Thr21=)
n.191C>G
c.114C>G (p.Thr38=)
17g.41771792G=CA2260177307JUPc.63C= (p.Thr21=)
n.191C=
c.114C= (p.Thr38=)
17g.41771792G>TCA500026086JUPc.63C>A (p.Thr21=)
n.191C>A
c.114C>A (p.Thr38=)
COSMIC
17g.41771793G>ACA399507153JUPc.62C>T (p.Thr21Ile)
n.190C>T
c.113C>T (p.Thr38Ile)
gnomAD v4
17g.41771793G>CCA399507149JUPc.62C>G (p.Thr21Ser)
n.190C>G
c.113C>G (p.Thr38Ser)
17g.41771793G>TCA399507151JUPc.62C>A (p.Thr21Asn)
n.190C>A
c.113C>A (p.Thr38Asn)
gnomAD v4
17g.41771794T>ACA399507155JUPc.61A>T (p.Thr21Ser)
n.189A>T
c.112A>T (p.Thr38Ser)
17g.41771794T>CCA399507156JUPc.61A>G (p.Thr21Ala)
n.189A>G
c.112A>G (p.Thr38Ala)
17g.41771794T>GCA399507158JUPc.61A>C (p.Thr21Pro)
n.189A>C
c.112A>C (p.Thr38Pro)
dbSNP
17g.41771794T=CA2260177308JUPc.61A= (p.Thr21=)
n.189A=
c.112A= (p.Thr38=)
17g.41771795G>ACA500026092JUPc.60C>T (p.Tyr20=)
n.188C>T
c.111C>T (p.Tyr37=)
dbSNP gnomAD v4
17g.41771795G>CCA399507160JUPc.60C>G (p.Tyr20Ter)
n.188C>G
c.111C>G (p.Tyr37Ter)
17g.41771795G=CA2260177309JUPc.60C= (p.Tyr20=)
n.188C=
c.111C= (p.Tyr37=)
17g.41771795G>TCA399507162JUPc.60C>A (p.Tyr20Ter)
n.188C>A
c.111C>A (p.Tyr37Ter)
17g.41771796T>ACA399507167JUPc.59A>T (p.Tyr20Phe)
n.187A>T
c.110A>T (p.Tyr37Phe)
17g.41771796T>CCA399507164JUPc.59A>G (p.Tyr20Cys)
n.187A>G
c.110A>G (p.Tyr37Cys)
17g.41771796T>GCA399507166JUPc.59A>C (p.Tyr20Ser)
n.187A>C
c.110A>C (p.Tyr37Ser)
17g.41771797A>CCA399507169JUPc.58T>G (p.Tyr20Asp)
n.186T>G
c.109T>G (p.Tyr37Asp)
17g.41771797A>GCA399507171JUPc.58T>C (p.Tyr20His)
n.186T>C
c.109T>C (p.Tyr37His)
gnomAD v4
17g.41771797A>TCA399507173JUPc.58T>A (p.Tyr20Asn)
n.186T>A
c.109T>A (p.Tyr37Asn)
17g.41771798T>ACA500026103JUPc.57A>T (p.Thr19=)
n.185A>T
c.108A>T (p.Thr36=)
17g.41771798T>CCA500026106JUPc.57A>G (p.Thr19=)
n.185A>G
c.108A>G (p.Thr36=)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.41771798T>GCA500026104JUPc.57A>C (p.Thr19=)
n.185A>C
c.108A>C (p.Thr36=)
17g.41771798T=CA2260177310JUPc.57A= (p.Thr19=)
n.185A=
c.108A= (p.Thr36=)
17g.41771799G>ACA185075JUPc.56C>T (p.Thr19Ile)
n.184C>T
c.107C>T (p.Thr36Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.41771799G>CCA399507175JUPc.56C>G (p.Thr19Arg)
n.184C>G
c.107C>G (p.Thr36Arg)
17g.41771799G=CA2260177311JUPc.56C= (p.Thr19=)
n.184C=
c.107C= (p.Thr36=)
17g.41771799G>TCA399507177JUPc.56C>A (p.Thr19Lys)
n.184C>A
c.107C>A (p.Thr36Lys)
17g.41771799_41771800insGCCCA8565592JUPc.55_56insGGC (p.Thr19delinsArgPro)
n.183_184insGGC
c.106_107insGGC (p.Thr36delinsArgPro)
dbSNP ExAC gnomAD v2
17g.41771800T>ACA399507178JUPc.55A>T (p.Thr19Ser)
n.183A>T
c.106A>T (p.Thr36Ser)
17g.41771800T>CCA399507179JUPc.55A>G (p.Thr19Ala)
n.183A>G
c.106A>G (p.Thr36Ala)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.41771800T>GCA399507181JUPc.55A>C (p.Thr19Pro)
n.183A>C
c.106A>C (p.Thr36Pro)
17g.41771800T=CA2260177312JUPc.55A= (p.Thr19=)
n.183A=
c.106A= (p.Thr36=)
17g.41771800_41771801insTCCCTCCCA8565593JUPc.54_55insGGAGGGA (p.Thr19GlyfsTer31)
n.182_183insGGAGGGA
c.105_106insGGAGGGA (p.Thr36GlyfsTer31)
dbSNP ExAC
17g.41771801C>ACA399507184JUPc.54G>T (p.Gln18His)
n.182G>T
c.105G>T (p.Gln35His)
17g.41771801C>GCA399507185JUPc.54G>C (p.Gln18His)
n.182G>C
c.105G>C (p.Gln35His)
ClinVar
17g.41771801C>TCA500026118JUPc.54G>A (p.Gln18=)
n.182G>A
c.105G>A (p.Gln35=)
gnomAD v4
17g.41771802T>ACA399507187JUPc.53A>T (p.Gln18Leu)
n.181A>T
c.104A>T (p.Gln35Leu)
17g.41771802T>CCA399507190JUPc.53A>G (p.Gln18Arg)
n.181A>G
c.104A>G (p.Gln35Arg)
17g.41771802T>GCA399507189JUPc.53A>C (p.Gln18Pro)
n.181A>C
c.104A>C (p.Gln35Pro)
17g.41771803G>ACA8565595JUPc.52C>T (p.Gln18Ter)
n.180C>T
c.103C>T (p.Gln35Ter)
dbSNP ExAC
17g.41771803G>CCA8565594JUPc.52C>G (p.Gln18Glu)
n.180C>G
c.103C>G (p.Gln35Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.41771803G=CA2260177313JUPc.52C= (p.Gln18=)
n.180C=
c.103C= (p.Gln35=)
17g.41771803G>TCA399507193JUPc.52C>A (p.Gln18Lys)
n.180C>A
c.103C>A (p.Gln35Lys)
17g.41771804C>ACA399507195JUPc.51G>T (p.Gln17His)
n.179G>T
c.102G>T (p.Gln34His)
17g.41771804C=CA2260177314JUPc.51G= (p.Gln17=)
n.179G=
c.102G= (p.Gln34=)
17g.41771804C>GCA399507196JUPc.51G>C (p.Gln17His)
n.179G>C
c.102G>C (p.Gln34His)
gnomAD v4
17g.41771804C>TCA8565596JUPc.51G>A (p.Gln17=)
n.179G>A
c.102G>A (p.Gln34=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.41771805T>ACA399507199JUPc.50A>T (p.Gln17Leu)
n.178A>T
c.101A>T (p.Gln34Leu)
17g.41771805T>CCA399507201JUPc.50A>G (p.Gln17Arg)
n.178A>G
c.101A>G (p.Gln34Arg)
17g.41771805T>GCA399507203JUPc.50A>C (p.Gln17Pro)
n.178A>C
c.101A>C (p.Gln34Pro)
17g.41771806G>ACA8565597JUPc.49C>T (p.Gln17Ter)
n.177C>T
c.100C>T (p.Gln34Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.41771806G>CCA399507205JUPc.49C>G (p.Gln17Glu)
n.177C>G
c.100C>G (p.Gln34Glu)
17g.41771806G=CA2260177315JUPc.49C= (p.Gln17=)
n.177C=
c.100C= (p.Gln34=)
17g.41771806G>TCA399507207JUPc.49C>A (p.Gln17Lys)
n.177C>A
c.100C>A (p.Gln34Lys)
ClinVar dbSNP
17g.41771807C>ACA399507213JUPc.48G>T (p.Trp16Cys)
n.176G>T
c.99G>T (p.Trp33Cys)
17g.41771807C>GCA399507209JUPc.48G>C (p.Trp16Cys)
n.176G>C
c.99G>C (p.Trp33Cys)
17g.41771807C>TCA399507211JUPc.48G>A (p.Trp16Ter)
n.176G>A
c.99G>A (p.Trp33Ter)
gnomAD v4
17g.41771808C>ACA399507215JUPc.47G>T (p.Trp16Leu)
n.175G>T
c.98G>T (p.Trp33Leu)
17g.41771808C>GCA399507217JUPc.47G>C (p.Trp16Ser)
n.175G>C
c.98G>C (p.Trp33Ser)
17g.41771808C>TCA399507219JUPc.47G>A (p.Trp16Ter)
n.175G>A
c.98G>A (p.Trp33Ter)
17g.41771809A=CA2260177316JUPc.46T= (p.Trp16=)
n.174T=
c.97T= (p.Trp33=)
17g.41771809A>CCA399507221JUPc.46T>G (p.Trp16Gly)
n.174T>G
c.97T>G (p.Trp33Gly)
17g.41771809A>GCA399507223JUPc.46T>C (p.Trp16Arg)
n.174T>C
c.97T>C (p.Trp33Arg)
dbSNP gnomAD v3 gnomAD v4
17g.41771809A>TCA399507224JUPc.46T>A (p.Trp16Arg)
n.174T>A
c.97T>A (p.Trp33Arg)
17g.41771810C>ACA399507226JUPc.45G>T (p.Glu15Asp)
n.173G>T
c.96G>T (p.Glu32Asp)
17g.41771810C>GCA399507228JUPc.45G>C (p.Glu15Asp)
n.173G>C
c.96G>C (p.Glu32Asp)
gnomAD v4
17g.41771810C>TCA500026141JUPc.45G>A (p.Glu15=)
n.173G>A
c.96G>A (p.Glu32=)
17g.41771811T>ACA399507230JUPc.44A>T (p.Glu15Val)
n.172A>T
c.95A>T (p.Glu32Val)
dbSNP
17g.41771811T>CCA399507232JUPc.44A>G (p.Glu15Gly)
n.172A>G
c.95A>G (p.Glu32Gly)
17g.41771811T>GCA399507234JUPc.44A>C (p.Glu15Ala)
n.172A>C
c.95A>C (p.Glu32Ala)
17g.41771811T=CA2260177317JUPc.44A= (p.Glu15=)
n.172A=
c.95A= (p.Glu32=)
17g.41771812C>ACA399507239JUPc.43G>T (p.Glu15Ter)
n.171G>T
c.94G>T (p.Glu32Ter)
17g.41771812C>GCA399507238JUPc.43G>C (p.Glu15Gln)
n.171G>C
c.94G>C (p.Glu32Gln)
17g.41771812C>TCA399507236JUPc.43G>A (p.Glu15Lys)
n.171G>A
c.94G>A (p.Glu32Lys)
17g.41771813A>CCA500026148JUPc.42T>G (p.Thr14=)
n.170T>G
c.93T>G (p.Thr31=)
17g.41771813A>GCA500026149JUPc.42T>C (p.Thr14=)
n.170T>C
c.93T>C (p.Thr31=)
17g.41771813A>TCA500026151JUPc.42T>A (p.Thr14=)
n.170T>A
c.93T>A (p.Thr31=)
17g.41771814G>ACA8565598JUPc.41C>T (p.Thr14Ile)
n.169C>T
c.92C>T (p.Thr31Ile)
dbSNP ExAC gnomAD v2
17g.41771814G>CCA399507241JUPc.41C>G (p.Thr14Ser)
n.169C>G
c.92C>G (p.Thr31Ser)
17g.41771814G=CA2260177318JUPc.41C= (p.Thr14=)
n.169C=
c.92C= (p.Thr31=)
17g.41771814G>TCA399507243JUPc.41C>A (p.Thr14Asn)
n.169C>A
c.92C>A (p.Thr31Asn)
17g.41771815T>ACA399507246JUPc.40A>T (p.Thr14Ser)
n.168A>T
c.91A>T (p.Thr31Ser)
17g.41771815T>CCA399507247JUPc.40A>G (p.Thr14Ala)
n.168A>G
c.91A>G (p.Thr31Ala)
17g.41771815T>GCA8565599JUPc.40A>C (p.Thr14Pro)
n.168A>C
c.91A>C (p.Thr31Pro)
dbSNP ExAC gnomAD v2
17g.41771815T=CA2260177319JUPc.40A= (p.Thr14=)
n.168A=
c.91A= (p.Thr31=)
17g.41771816C>ACA500026157JUPc.39G>T (p.Val13=)
n.167G>T
c.90G>T (p.Val30=)
17g.41771816C>GCA500026162JUPc.39G>C (p.Val13=)
n.167G>C
c.90G>C (p.Val30=)
17g.41771816C>TCA500026160JUPc.39G>A (p.Val13=)
n.167G>A
c.90G>A (p.Val30=)
17g.41771817A>CCA399507256JUPc.38T>G (p.Val13Gly)
n.166T>G
c.89T>G (p.Val30Gly)
17g.41771817A>GCA399507250JUPc.38T>C (p.Val13Ala)
n.166T>C
c.89T>C (p.Val30Ala)
17g.41771817A>TCA399507252JUPc.38T>A (p.Val13Glu)
n.166T>A
c.89T>A (p.Val30Glu)

Number of alleles fetched