Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.18078599_18079914delCA913203502PEX26c.223_271del
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=)
22g.18079894C>ACA410265604PEX26c.251C>A (p.Ser84Tyr)
22g.18079894C>GCA410265605PEX26c.251C>G (p.Ser84Cys)
22g.18079894C>TCA410265606PEX26c.251C>T (p.Ser84Phe)
22g.18079895C>ACA512915306PEX26c.252C>A (p.Ser84=)
22g.18079895C>GCA512915307PEX26c.252C>G (p.Ser84=)
22g.18079895C>TCA512915308PEX26c.252C>T (p.Ser84=)
gnomAD v4
22g.18079895_18079896insTCA321285381PEX26c.252_253insT (p.Leu85SerfsTer30)
22g.18079896C>ACA410265607PEX26c.253C>A (p.Leu85Met)
22g.18079896C=CA2395403452PEX26c.253C= (p.Leu85=)
22g.18079896C>GCA410265608PEX26c.253C>G (p.Leu85Val)
22g.18079896C>TCA512915309PEX26c.253C>T (p.Leu85=)
dbSNP gnomAD v2 gnomAD v4
22g.18079897delCA2655186398PEX26c.254del (p.Leu85ArgfsTer?)
gnomAD v4
22g.18079897T>ACA410265609PEX26c.254T>A (p.Leu85Gln)
22g.18079897T>CCA410265611PEX26c.254T>C (p.Leu85Pro)
22g.18079897T>GCA410265610PEX26c.254T>G (p.Leu85Arg)
22g.18079897dupCA115376PEX26c.254dup (p.Cys86ValfsTer29)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.18079898delCA2655186439PEX26c.255del (p.Cys86ValfsTer?)
gnomAD v4
22g.18079898G>ACA512915310PEX26c.255G>A (p.Leu85=)
ClinVar
22g.18079898G>CCA512915311PEX26c.255G>C (p.Leu85=)
ClinVar
22g.18079898G>TCA512915312PEX26c.255G>T (p.Leu85=)
22g.18079899T>ACA410265612PEX26c.256T>A (p.Cys86Ser)
gnomAD v4
22g.18079899T>CCA410265613PEX26c.256T>C (p.Cys86Arg)
ClinVar
22g.18079899T>GCA410265614PEX26c.256T>G (p.Cys86Gly)
22g.18079900G>ACA410265615PEX26c.257G>A (p.Cys86Tyr)
22g.18079900G>CCA410265616PEX26c.257G>C (p.Cys86Ser)
COSMIC
22g.18079900G>TCA410265617PEX26c.257G>T (p.Cys86Phe)
22g.18079901T>ACA410265618PEX26c.258T>A (p.Cys86Ter)
22g.18079901T>CCA512915313PEX26c.258T>C (p.Cys86=)
22g.18079901T>GCA410265619PEX26c.258T>G (p.Cys86Trp)
22g.18079902G>ACA410265620PEX26c.259G>A (p.Val87Ile)
22g.18079902G>CCA410265621PEX26c.259G>C (p.Val87Leu)
22g.18079902G>TCA410265622PEX26c.259G>T (p.Val87Phe)
22g.18079903T>ACA410265623PEX26c.260T>A (p.Val87Asp)
22g.18079903T>CCA410265625PEX26c.260T>C (p.Val87Ala)
22g.18079903T>GCA410265624PEX26c.260T>G (p.Val87Gly)
22g.18079904T>ACA512915314PEX26c.261T>A (p.Val87=)
22g.18079904T>CCA512915315PEX26c.261T>C (p.Val87=)
22g.18079904T>GCA512915316PEX26c.261T>G (p.Val87=)
22g.18079905G>ACA410265626PEX26c.262G>A (p.Val88Met)
ClinVar dbSNP gnomAD v4
22g.18079905G>CCA410265627PEX26c.262G>C (p.Val88Leu)
22g.18079905G=CA2395403453PEX26c.262G= (p.Val88=)
22g.18079905G>TCA321285397PEX26c.262G>T (p.Val88Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
22g.18079906T>ACA410265628PEX26c.263T>A (p.Val88Glu)
22g.18079906T>CCA410265629PEX26c.263T>C (p.Val88Ala)
22g.18079906T>GCA410265630PEX26c.263T>G (p.Val88Gly)
22g.18079907G>ACA512915317PEX26c.264G>A (p.Val88=)
22g.18079907G>CCA512915318PEX26c.264G>C (p.Val88=)
22g.18079907G>TCA512915319PEX26c.264G>T (p.Val88=)
22g.18079908G>ACA115369PEX26c.265G>A (p.Gly89Arg)
ClinVar dbSNP
22g.18079908G>CCA410265631PEX26c.265G>C (p.Gly89Arg)
22g.18079908G=CA2395403454PEX26c.265G= (p.Gly89=)
22g.18079908G>TCA410265632PEX26c.265G>T (p.Gly89Trp)
22g.18079909G>ACA410265633PEX26c.266G>A (p.Gly89Glu)
gnomAD v4
22g.18079909G>CCA410265634PEX26c.266G>C (p.Gly89Ala)
22g.18079909G>TCA410265635PEX26c.266G>T (p.Gly89Val)
22g.18079910G>ACA512915320PEX26c.267G>A (p.Gly89=)
22g.18079910G>CCA512915321PEX26c.267G>C (p.Gly89=)
22g.18079910G=CA2395403455PEX26c.267G= (p.Gly89=)
22g.18079910G>TCA512915322PEX26c.267G>T (p.Gly89=)
ClinVar dbSNP
22g.18079911A>CCA410265636PEX26c.268A>C (p.Ile90Leu)
22g.18079911A>GCA410265637PEX26c.268A>G (p.Ile90Val)
22g.18079911A>TCA410265638PEX26c.268A>T (p.Ile90Phe)
22g.18079912T>ACA410265639PEX26c.269T>A (p.Ile90Asn)
22g.18079912T>CCA410265641PEX26c.269T>C (p.Ile90Thr)
22g.18079912T>GCA410265640PEX26c.269T>G (p.Ile90Ser)
22g.18079913C>ACA512915324PEX26c.270C>A (p.Ile90=)
COSMIC
22g.18079913C>GCA410265642PEX26c.270C>G (p.Ile90Met)
22g.18079913C>TCA512915323PEX26c.270C>T (p.Ile90=)
22g.18079914C>ACA410265643PEX26c.271C>A (p.Gln91Lys)
22g.18079914C>GCA410265644PEX26c.271C>G (p.Gln91Glu)
22g.18079914C>TCA410265645PEX26c.271C>T (p.Gln91Ter)
22g.18079915A>CCA410265646PEX26c.272A>C (p.Gln91Pro)
22g.18079915A>GCA410265647PEX26c.272A>G (p.Gln91Arg)
22g.18079915A>TCA410265648PEX26c.272A>T (p.Gln91Leu)
22g.18079916G>ACA512915325PEX26c.273G>A (p.Gln91=)
22g.18079916G>CCA410265649PEX26c.273G>C (p.Gln91His)
22g.18079916G>TCA410265650PEX26c.273G>T (p.Gln91His)
22g.18079917G>ACA410265652PEX26c.274G>A (p.Ala92Thr)
ClinVar dbSNP
22g.18079917G>CCA410265653PEX26c.274G>C (p.Ala92Pro)
22g.18079917G=CA2395403456PEX26c.274G= (p.Ala92=)
22g.18079917G>TCA410265651PEX26c.274G>T (p.Ala92Ser)
22g.18079918C>ACA410265654PEX26c.275C>A (p.Ala92Asp)
22g.18079918C=CA2395403457PEX26c.275C= (p.Ala92=)
22g.18079918C>GCA410265655PEX26c.275C>G (p.Ala92Gly)
22g.18079918C>TCA410265656PEX26c.275C>T (p.Ala92Val)
dbSNP gnomAD v2 gnomAD v4 COSMIC
22g.18079919C>ACA512915326PEX26c.276C>A (p.Ala92=)
ClinVar
22g.18079919C>GCA512915328PEX26c.276C>G (p.Ala92=)
gnomAD v4
22g.18079919C>TCA512915327PEX26c.276C>T (p.Ala92=)
22g.18079920C>ACA410265657PEX26c.277C>A (p.Leu93Met)
dbSNP gnomAD v2 gnomAD v4
22g.18079920C=CA2395403458PEX26c.277C= (p.Leu93=)
22g.18079920C>GCA410265658PEX26c.277C>G (p.Leu93Val)
22g.18079920C>TCA512915329PEX26c.277C>T (p.Leu93=)
ClinVar dbSNP
22g.18079921T>ACA410265661PEX26c.278T>A (p.Leu93Gln)
22g.18079921T>CCA410265660PEX26c.278T>C (p.Leu93Pro)
dbSNP
22g.18079921T>GCA410265659PEX26c.278T>G (p.Leu93Arg)
22g.18079921T=CA2395403459PEX26c.278T= (p.Leu93=)
22g.18079922G>ACA512915330PEX26c.279G>A (p.Leu93=)
ClinVar
22g.18079922G>CCA512915331PEX26c.279G>C (p.Leu93=)
gnomAD v4
22g.18079922G>TCA512915332PEX26c.279G>T (p.Leu93=)
22g.18079923G>ACA410265662PEX26c.280G>A (p.Ala94Thr)
22g.18079923G>CCA410265663PEX26c.280G>C (p.Ala94Pro)
22g.18079923G>TCA410265664PEX26c.280G>T (p.Ala94Ser)
22g.18079924C>ACA410265665PEX26c.281C>A (p.Ala94Glu)
gnomAD v4
22g.18079924C=CA2395403460PEX26c.281C= (p.Ala94=)
22g.18079924C>GCA10093280PEX26c.281C>G (p.Ala94Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.18079924C>TCA10093281PEX26c.281C>T (p.Ala94Val)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.18079925A>CCA512915333PEX26c.282A>C (p.Ala94=)
22g.18079925A>GCA512915334PEX26c.282A>G (p.Ala94=)
22g.18079925A>TCA512915335PEX26c.282A>T (p.Ala94=)
22g.18079926G>ACA410265666PEX26c.283G>A (p.Glu95Lys)
ClinVar gnomAD v4
22g.18079926G>CCA321285421PEX26c.283G>C (p.Glu95Gln)
dbSNP
22g.18079926G=CA2395403461PEX26c.283G= (p.Glu95=)
22g.18079926G>TCA410265667PEX26c.283G>T (p.Glu95Ter)
22g.18079927A>CCA410265668PEX26c.284A>C (p.Glu95Ala)
22g.18079927A>GCA410265669PEX26c.284A>G (p.Glu95Gly)
22g.18079927A>TCA410265670PEX26c.284A>T (p.Glu95Val)
22g.18079928A>CCA410265671PEX26c.285A>C (p.Glu95Asp)
22g.18079928A>GCA512915336PEX26c.285A>G (p.Glu95=)
22g.18079928A>TCA410265672PEX26c.285A>T (p.Glu95Asp)
22g.18079929A>CCA410265673PEX26c.286A>C (p.Met96Leu)
22g.18079929A>GCA410265674PEX26c.286A>G (p.Met96Val)
22g.18079929A>TCA410265675PEX26c.286A>T (p.Met96Leu)
22g.18079930T>ACA410265676PEX26c.287T>A (p.Met96Lys)
22g.18079930T>CCA410265677PEX26c.287T>C (p.Met96Thr)
22g.18079930T>GCA410265678PEX26c.287T>G (p.Met96Arg)
22g.18079931G>ACA410265679PEX26c.288G>A (p.Met96Ile)
dbSNP COSMIC
22g.18079931G>CCA410265681PEX26c.288G>C (p.Met96Ile)
22g.18079931G=CA2395403462PEX26c.288G= (p.Met96=)
22g.18079931G>TCA410265680PEX26c.288G>T (p.Met96Ile)
22g.18079932G>ACA410265682PEX26c.289G>A (p.Asp97Asn)
22g.18079932G>CCA410265684PEX26c.289G>C (p.Asp97His)
22g.18079932G>TCA410265683PEX26c.289G>T (p.Asp97Tyr)
22g.18079933A>CCA410265685PEX26c.290A>C (p.Asp97Ala)
22g.18079933A>GCA410265686PEX26c.290A>G (p.Asp97Gly)
22g.18079933A>TCA410265687PEX26c.290A>T (p.Asp97Val)
22g.18079934T>ACA410265688PEX26c.291T>A (p.Asp97Glu)
22g.18079934T>CCA512915338PEX26c.291T>C (p.Asp97=)
22g.18079934T>GCA410265689PEX26c.291T>G (p.Asp97Glu)
22g.18079935C>ACA512915339PEX26c.292C>A (p.Arg98=)
22g.18079935C=CA2395403463PEX26c.292C= (p.Arg98=)
22g.18079935C>GCA410265690PEX26c.292C>G (p.Arg98Gly)
dbSNP
22g.18079935C>TCA115367PEX26c.292C>T (p.Arg98Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched