Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.18078599_18079914delCA913203502PEX26c.223_271del
22g.18079785_18079793delinsGGAGCTGGACA2395403408PEX26c.231-89_231-81delinsGGAGCTGGA (n.231-89_231-81delinsGGAGCTGGA)
22g.18079789_18079796delCA2395403409PEX26c.231-85_231-78del (n.231-85_231-78del)
dbSNP
22g.18079795_18079796delCA2737689468PEX26c.231-79_231-78del (n.231-79_231-78del)
dbSNP
22g.18079793delCA2577641409PEX26c.231-81del (n.231-81del)
22g.18079793A>GCA2655186198PEX26c.231-81A>G (n.231-81A>G)
gnomAD v4
22g.18079794G>ACA751300124PEX26c.231-80G>A (n.231-80G>A)
dbSNP gnomAD v3 gnomAD v4
22g.18079794G=CA2395403412PEX26c.231-80G= (n.231-80G=)
22g.18079795_18079796delinsAGCA2395403413PEX26c.231-79_231-78delinsAG (n.231-79_231-78delinsAG)
22g.18079797delCA751300125PEX26c.231-77del (n.231-77del)
dbSNP gnomAD v3 gnomAD v4
22g.18079797G>ACA751300126PEX26c.231-77G>A (n.231-77G>A)
dbSNP gnomAD v4
22g.18079797G>CCA2577641410PEX26c.231-77G>C (n.231-77G>C)
22g.18079797G=CA2395403414PEX26c.231-77G= (n.231-77G=)
22g.18079797G>TCA2577641411PEX26c.231-77G>T (n.231-77G>T)
gnomAD v4
22g.18079798A>TCA2655186208PEX26c.231-76A>T (n.231-76A>T)
gnomAD v4
22g.18079799A>GCA2577641412PEX26c.231-75A>G (n.231-75A>G)
gnomAD v4
22g.18079800C>ACA2577641414PEX26c.231-74C>A (n.231-74C>A)
gnomAD v4
22g.18079800C=CA2395403415PEX26c.231-74C= (n.231-74C=)
22g.18079800C>TCA751300128PEX26c.231-74C>T (n.231-74C>T)
dbSNP gnomAD v4
22g.18079801_18079804delCA2577641413PEX26c.231-73_231-70del (n.231-73_231-70del)
22g.18079801A>TCA2577641415PEX26c.231-73A>T (n.231-73A>T)
22g.18079803T>ACA2655186221PEX26c.231-71T>A (n.231-71T>A)
dbSNP gnomAD v4
22g.18079803T>CCA2577641416PEX26c.231-71T>C (n.231-71T>C)
gnomAD v4
22g.18079804C>ACA1024000485PEX26c.231-70C>A (n.231-70C>A)
dbSNP gnomAD v3 gnomAD v4
22g.18079804C=CA2395403416PEX26c.231-70C= (n.231-70C=)
22g.18079806C>ACA2655186224PEX26c.231-68C>A (n.231-68C>A)
gnomAD v4
22g.18079806C>TCA2577641417PEX26c.231-68C>T (n.231-68C>T)
22g.18079807A>GCA2737689484PEX26c.231-67A>G (n.231-67A>G)
dbSNP
22g.18079810G>ACA2655186226PEX26c.231-64G>A (n.231-64G>A)
gnomAD v4
22g.18079811T>GCA2395403418PEX26c.231-63T>G (n.231-63T>G)
dbSNP gnomAD v4
22g.18079811T=CA2395403417PEX26c.231-63T= (n.231-63T=)
22g.18079812G>ACA321285219PEX26c.231-62G>A (n.231-62G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18079812G=CA2395403419PEX26c.231-62G= (n.231-62G=)
22g.18079813G>ACA321285233PEX26c.231-61G>A (n.231-61G>A)
dbSNP gnomAD v3 gnomAD v4
22g.18079813G=CA2395403420PEX26c.231-61G= (n.231-61G=)
22g.18079815G>ACA751300130PEX26c.231-59G>A (n.231-59G>A)
dbSNP gnomAD v3 gnomAD v4
22g.18079815G>CCA638320256PEX26c.231-59G>C (n.231-59G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18079815G=CA2395403421PEX26c.231-59G= (n.231-59G=)
22g.18079816G>ACA2655186242PEX26c.231-58G>A (n.231-58G>A)
gnomAD v4
22g.18079816G>CCA2655186245PEX26c.231-58G>C (n.231-58G>C)
gnomAD v4
22g.18079817_18079818delinsTGCA2395403422PEX26c.231-57_231-56delinsTG (n.231-57_231-56delinsTG)
22g.18079818G>TCA2577641422PEX26c.231-56G>T (n.231-56G>T)
22g.18079820delCA1024000496PEX26c.231-54del (n.231-54del)
dbSNP gnomAD v3 gnomAD v4
22g.18079822_18079832delCA2655186251PEX26c.231-52_231-42del (n.231-52_231-42del)
gnomAD v4
22g.18079820G>ACA2655186257PEX26c.231-54G>A (n.231-54G>A)
gnomAD v4
22g.18079827_18079832dupCA2655186259PEX26c.231-47_231-42dup (n.231-47_231-42dup)
gnomAD v4
22g.18079822A>GCA2655186261PEX26c.231-52A>G (n.231-52A>G)
gnomAD v4
22g.18079823T>CCA751300132PEX26c.231-51T>C (n.231-51T>C)
dbSNP gnomAD v3 gnomAD v4
22g.18079823T=CA2395403423PEX26c.231-51T= (n.231-51T=)
22g.18079827A=CA2395403424PEX26c.231-47A= (n.231-47A=)
22g.18079827A>CCA751300134PEX26c.231-47A>C (n.231-47A>C)
dbSNP
22g.18079829T>CCA10093268PEX26c.231-45T>C (n.231-45T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18079829T>GCA10093267PEX26c.231-45T>G (n.231-45T>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18079829T=CA2395403425PEX26c.231-45T= (n.231-45T=)
22g.18079831G>ACA10093269PEX26c.231-43G>A (n.231-43G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18079831G>CCA10093270PEX26c.231-43G>C (n.231-43G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18079831G=CA2395403426PEX26c.231-43G= (n.231-43G=)
22g.18079833G>ACA2395403427PEX26c.231-41G>A (n.231-41G>A)
dbSNP gnomAD v4
22g.18079833G=CA2395403428PEX26c.231-41G= (n.231-41G=)
22g.18079833G>TCA2577641431PEX26c.231-41G>T (n.231-41G>T)
22g.18079834G>ACA2655186285PEX26c.231-40G>A (n.231-40G>A)
gnomAD v4
22g.18079834G>TCA2655186284PEX26c.231-40G>T (n.231-40G>T)
gnomAD v4
22g.18079835G>ACA2395403429PEX26c.231-39G>A (n.231-39G>A)
dbSNP gnomAD v4
22g.18079835G=CA2395403430PEX26c.231-39G= (n.231-39G=)
22g.18079836G>CCA751300145PEX26c.231-38G>C (n.231-38G>C)
dbSNP
22g.18079836G=CA2395403431PEX26c.231-38G= (n.231-38G=)
22g.18079836G>TCA2655186288PEX26c.231-38G>T (n.231-38G>T)
gnomAD v4
22g.18079837A=CA2395403432PEX26c.231-37A= (n.231-37A=)
22g.18079837A>GCA10093271PEX26c.231-37A>G (n.231-37A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18079838A>GCA2577641433PEX26c.231-36A>G (n.231-36A>G)
gnomAD v4
22g.18079839C>ACA2818335255PEX26c.231-35C>A (n.231-35C>A)
22g.18079839C>TCA2577641434PEX26c.231-35C>T (n.231-35C>T)
22g.18079840C=CA2395403433PEX26c.231-34C= (n.231-34C=)
22g.18079840C>GCA10093272PEX26c.231-34C>G (n.231-34C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18079842C>TCA2655186295PEX26c.231-32C>T (n.231-32C>T)
gnomAD v4
22g.18079845C>ACA10093273PEX26c.231-29C>A (n.231-29C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18079845C=CA2395403434PEX26c.231-29C= (n.231-29C=)
22g.18079845C>GCA2655186301PEX26c.231-29C>G (n.231-29C>G)
gnomAD v4
22g.18079845C>TCA751300149PEX26c.231-29C>T (n.231-29C>T)
dbSNP gnomAD v4
22g.18079848A>GCA2655186303PEX26c.231-26A>G (n.231-26A>G)
gnomAD v4
22g.18079850T>CCA638320271PEX26c.231-24T>C (n.231-24T>C)
dbSNP gnomAD v2 gnomAD v4
22g.18079850T=CA2395403435PEX26c.231-24T= (n.231-24T=)
22g.18079851G>CCA321285315PEX26c.231-23G>C (n.231-23G>C)
dbSNP gnomAD v2 gnomAD v4
22g.18079851G=CA2395403436PEX26c.231-23G= (n.231-23G=)
22g.18079852A>TCA2655186314PEX26c.231-22A>T (n.231-22A>T)
gnomAD v4
22g.18079853A>CCA2655186316PEX26c.231-21A>C (n.231-21A>C)
gnomAD v4
22g.18079855T>CCA10093274PEX26c.231-19T>C (n.231-19T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18079855T=CA2395403437PEX26c.231-19T= (n.231-19T=)
22g.18079856T>CCA2655186324PEX26c.231-18T>C (n.231-18T>C)
gnomAD v4
22g.18079858G>ACA2655186327PEX26c.231-16G>A (n.231-16G>A)
gnomAD v4
22g.18079858G>TCA2577641443PEX26c.231-16G>T (n.231-16G>T)
ClinVar gnomAD v4
22g.18079859T>CCA638320275PEX26c.231-15T>C (n.231-15T>C)
dbSNP gnomAD v2 gnomAD v4
22g.18079859T>GCA10093275PEX26c.231-15T>G (n.231-15T>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18079859T=CA2395403438PEX26c.231-15T= (n.231-15T=)
22g.18079863dupCA2655186333PEX26c.231-11dup (n.231-11dup)
gnomAD v4
22g.18079862T>CCA2655186340PEX26c.231-12T>C (n.231-12T>C)
gnomAD v4
22g.18079863T>CCA2655186342PEX26c.231-11T>C (n.231-11T>C)
gnomAD v4
22g.18079864C>ACA2740094767PEX26c.231-10C>A (n.231-10C>A)
ClinVar
22g.18079864C>TCA2655186344PEX26c.231-10C>T (n.231-10C>T)
gnomAD v4
22g.18079868T>CCA2523784072PEX26c.231-6T>C (n.231-6T>C)
gnomAD v4
22g.18079871C>ACA1024000558PEX26c.231-3C>A (n.231-3C>A)
dbSNP gnomAD v3 gnomAD v4
22g.18079871C=CA2395403439PEX26c.231-3C= (n.231-3C=)
22g.18079871C>TCA10093276PEX26c.231-3C>T (n.231-3C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18079872A>CCA410265532PEX26c.231-2A>C (n.231-2A>C)
gnomAD v4
22g.18079872A>GCA410265534PEX26c.231-2A>G (n.231-2A>G)
22g.18079872A>TCA410265536PEX26c.231-2A>T (n.231-2A>T)
22g.18079873G>ACA410265538PEX26c.231-1G>A (n.231-1G>A)
dbSNP gnomAD v3 gnomAD v4
22g.18079873G>CCA410265541PEX26c.231-1G>C (n.231-1G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.18079873G=CA2395403440PEX26c.231-1G= (n.231-1G=)
22g.18079873G>TCA410265543PEX26c.231-1G>T (n.231-1G>T)
22g.18079874C>ACA512915290PEX26c.231C>A (p.Thr77=)
22g.18079874C>GCA512915291PEX26c.231C>G (p.Thr77=)
22g.18079874C>TCA512915292PEX26c.231C>T (p.Thr77=)
22g.18079874_18079875delinsCTCA2395403441PEX26c.231_232delinsCT (p.Thr77=)
22g.18079875delCA1024000564PEX26c.232del (p.Ser78HisfsTer4)
dbSNP gnomAD v3 gnomAD v4
22g.18079875T>ACA410265546PEX26c.232T>A (p.Ser78Thr)
22g.18079875T>CCA410265547PEX26c.232T>C (p.Ser78Pro)
dbSNP
22g.18079875T>GCA410265550PEX26c.232T>G (p.Ser78Ala)
22g.18079875T=CA2395403442PEX26c.232T= (p.Ser78=)
22g.18079876C>ACA410265553PEX26c.233C>A (p.Ser78Ter)
dbSNP
22g.18079876C=CA2395403443PEX26c.233C= (p.Ser78=)
22g.18079876C>GCA410265557PEX26c.233C>G (p.Ser78Ter)
22g.18079876C>TCA410265555PEX26c.233C>T (p.Ser78Leu)
gnomAD v4
22g.18079877A=CA2395403444PEX26c.234A= (p.Ser78=)
22g.18079877A>CCA512915296PEX26c.234A>C (p.Ser78=)
dbSNP
22g.18079877A>GCA512915297PEX26c.234A>G (p.Ser78=)
ClinVar dbSNP gnomAD v2 gnomAD v4
22g.18079877A>TCA512915298PEX26c.234A>T (p.Ser78=)
22g.18079877_18079878insCCA1024000567PEX26c.234_235insC (p.Glu80GlyfsTer?)
dbSNP gnomAD v3 gnomAD v4
22g.18079878T>ACA410265559PEX26c.235T>A (p.Leu79Met)
22g.18079878T>CCA512915299PEX26c.235T>C (p.Leu79=)
ClinVar dbSNP gnomAD v4
22g.18079878T>GCA410265561PEX26c.235T>G (p.Leu79Val)
22g.18079878T=CA2395403445PEX26c.235T= (p.Leu79=)
22g.18079879delCA2818335259PEX26c.236del (p.Leu79TrpfsTer3)
22g.18079879T>ACA410265564PEX26c.236T>A (p.Leu79Ter)
22g.18079879T>CCA410265566PEX26c.236T>C (p.Leu79Ser)
ClinVar gnomAD v4
22g.18079879T>GCA410265568PEX26c.236T>G (p.Leu79Trp)
22g.18079880G>ACA512915300PEX26c.237G>A (p.Leu79=)
dbSNP gnomAD v2 gnomAD v4
22g.18079880G>CCA410265571PEX26c.237G>C (p.Leu79Phe)
ClinVar
22g.18079880G=CA2395403446PEX26c.237G= (p.Leu79=)
22g.18079880G>TCA410265572PEX26c.237G>T (p.Leu79Phe)
22g.18079881G>ACA410265575PEX26c.238G>A (p.Glu80Lys)
22g.18079881G>CCA410265573PEX26c.238G>C (p.Glu80Gln)
22g.18079881G>TCA410265574PEX26c.238G>T (p.Glu80Ter)
22g.18079882A=CA2395403447PEX26c.239A= (p.Glu80=)
22g.18079882A>CCA410265576PEX26c.239A>C (p.Glu80Ala)
22g.18079882A>GCA410265577PEX26c.239A>G (p.Glu80Gly)
22g.18079882A>TCA10093277PEX26c.239A>T (p.Glu80Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18079883G>ACA512915301PEX26c.240G>A (p.Glu80=)
22g.18079883G>CCA410265578PEX26c.240G>C (p.Glu80Asp)
22g.18079883G>TCA410265579PEX26c.240G>T (p.Glu80Asp)
22g.18079884G>ACA410265580PEX26c.241G>A (p.Val81Met)
gnomAD v4
22g.18079884G>CCA410265582PEX26c.241G>C (p.Val81Leu)
22g.18079884G>TCA410265581PEX26c.241G>T (p.Val81Leu)
22g.18079885T>ACA410265583PEX26c.242T>A (p.Val81Glu)
22g.18079885T>CCA410265584PEX26c.242T>C (p.Val81Ala)
22g.18079885T>GCA410265585PEX26c.242T>G (p.Val81Gly)
22g.18079886G>ACA512915302PEX26c.243G>A (p.Val81=)
22g.18079886G>CCA512915303PEX26c.243G>C (p.Val81=)
22g.18079886G=CA2395403448PEX26c.243G= (p.Val81=)
22g.18079886G>TCA10093278PEX26c.243G>T (p.Val81=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18079887A>CCA410265586PEX26c.244A>C (p.Lys82Gln)
22g.18079887A>GCA410265587PEX26c.244A>G (p.Lys82Glu)
22g.18079887A>TCA410265588PEX26c.244A>T (p.Lys82Ter)
22g.18079888A=CA2395403449PEX26c.245A= (p.Lys82=)
22g.18079888A>CCA410265589PEX26c.245A>C (p.Lys82Thr)
dbSNP gnomAD v3 gnomAD v4
22g.18079888A>GCA10093279PEX26c.245A>G (p.Lys82Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18079888A>TCA410265590PEX26c.245A>T (p.Lys82Met)
22g.18079889G>ACA512915304PEX26c.246G>A (p.Lys82=)
dbSNP gnomAD v4
22g.18079889G>CCA410265591PEX26c.246G>C (p.Lys82Asn)
22g.18079889G=CA2395403450PEX26c.246G= (p.Lys82=)
22g.18079889G>TCA410265592PEX26c.246G>T (p.Lys82Asn)
22g.18079890T>ACA410265595PEX26c.247T>A (p.Cys83Ser)
22g.18079890T>CCA410265593PEX26c.247T>C (p.Cys83Arg)
22g.18079890T>GCA410265594PEX26c.247T>G (p.Cys83Gly)
22g.18079891G>ACA410265596PEX26c.248G>A (p.Cys83Tyr)
22g.18079891G>CCA410265597PEX26c.248G>C (p.Cys83Ser)
22g.18079891G>TCA410265598PEX26c.248G>T (p.Cys83Phe)
22g.18079892C>ACA410265599PEX26c.249C>A (p.Cys83Ter)
22g.18079892C>GCA410265600PEX26c.249C>G (p.Cys83Trp)
22g.18079892C>TCA512915305PEX26c.249C>T (p.Cys83=)
22g.18079893T>ACA410265603PEX26c.250T>A (p.Ser84Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
22g.18079893T>CCA410265602PEX26c.250T>C (p.Ser84Pro)
22g.18079893T>GCA410265601PEX26c.250T>G (p.Ser84Ala)
dbSNP gnomAD v4
22g.18079893T=CA2395403451PEX26c.250T= (p.Ser84=)

Number of alleles fetched