Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.17793523A>CCA398545760RAI1c.575A>C (p.Lys192Thr)
17g.17793523A>GCA398545761RAI1c.575A>G (p.Lys192Arg)
17g.17793523A>TCA398545762RAI1c.575A>T (p.Lys192Met)
17g.17793524G>ACA498422790RAI1c.576G>A (p.Lys192=)
17g.17793524G>CCA398545763RAI1c.576G>C (p.Lys192Asn)
17g.17793524G>TCA398545764RAI1c.576G>T (p.Lys192Asn)
17g.17793525C>ACA398545766RAI1c.577C>A (p.Leu193Met)
17g.17793525C>GCA398545765RAI1c.577C>G (p.Leu193Val)
17g.17793525C>TCA498422792RAI1c.577C>T (p.Leu193=)
17g.17793526T>ACA398545767RAI1c.578T>A (p.Leu193Gln)
17g.17793526T>CCA8418155RAI1c.578T>C (p.Leu193Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793526T>GCA398545768RAI1c.578T>G (p.Leu193Arg)
17g.17793526T=CA2250666207RAI1c.578T= (p.Leu193=)
17g.17793527G>ACA498422794RAI1c.579G>A (p.Leu193=)
ClinVar gnomAD v4
17g.17793527G>CCA498422795RAI1c.579G>C (p.Leu193=)
17g.17793527G>TCA498422796RAI1c.579G>T (p.Leu193=)
17g.17793528C>ACA398545769RAI1c.580C>A (p.Gln194Lys)
17g.17793528C>GCA398545770RAI1c.580C>G (p.Gln194Glu)
17g.17793528C>TCA398545771RAI1c.580C>T (p.Gln194Ter)
17g.17793529A>CCA398545772RAI1c.581A>C (p.Gln194Pro)
17g.17793529A>GCA398545774RAI1c.581A>G (p.Gln194Arg)
17g.17793529A>TCA398545773RAI1c.581A>T (p.Gln194Leu)
17g.17793530G>ACA498422804RAI1c.582G>A (p.Gln194=)
17g.17793530G>CCA398545775RAI1c.582G>C (p.Gln194His)
17g.17793530G>TCA398545776RAI1c.582G>T (p.Gln194His)
17g.17793531A>CCA398545777RAI1c.583A>C (p.Asn195His)
17g.17793531A>GCA398545778RAI1c.583A>G (p.Asn195Asp)
17g.17793531A>TCA398545779RAI1c.583A>T (p.Asn195Tyr)
17g.17793532A>CCA398545780RAI1c.584A>C (p.Asn195Thr)
17g.17793532A>GCA398545781RAI1c.584A>G (p.Asn195Ser)
17g.17793532A>TCA398545782RAI1c.584A>T (p.Asn195Ile)
17g.17793533C>ACA398545783RAI1c.585C>A (p.Asn195Lys)
17g.17793533C=CA2250666210RAI1c.585C= (p.Asn195=)
17g.17793533C>GCA398545784RAI1c.585C>G (p.Asn195Lys)
17g.17793533C>TCA8418156RAI1c.585C>T (p.Asn195=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793534G>ACA8418157RAI1c.586G>A (p.Asp196Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793534G>CCA398545787RAI1c.586G>C (p.Asp196His)
gnomAD v4
17g.17793534G=CA2250666219RAI1c.586G= (p.Asp196=)
17g.17793534G>TCA398545786RAI1c.586G>T (p.Asp196Tyr)
dbSNP
17g.17793535A>CCA398545790RAI1c.587A>C (p.Asp196Ala)
17g.17793535A>GCA398545788RAI1c.587A>G (p.Asp196Gly)
17g.17793535A>TCA398545789RAI1c.587A>T (p.Asp196Val)
17g.17793536C>ACA398545791RAI1c.588C>A (p.Asp196Glu)
17g.17793536C=CA2250666225RAI1c.588C= (p.Asp196=)
17g.17793536C>GCA398545792RAI1c.588C>G (p.Asp196Glu)
17g.17793536C>TCA498422814RAI1c.588C>T (p.Asp196=)
dbSNP gnomAD v4
17g.17793537A>CCA398545794RAI1c.589A>C (p.Ile197Leu)
17g.17793537A>GCA398545796RAI1c.589A>G (p.Ile197Val)
17g.17793537A>TCA398545797RAI1c.589A>T (p.Ile197Phe)
17g.17793538T>ACA398545798RAI1c.590T>A (p.Ile197Asn)
17g.17793538T>CCA398545800RAI1c.590T>C (p.Ile197Thr)
gnomAD v4
17g.17793538T>GCA398545799RAI1c.590T>G (p.Ile197Ser)
17g.17793539T>ACA498422818RAI1c.591T>A (p.Ile197=)
17g.17793539T>CCA498422819RAI1c.591T>C (p.Ile197=)
COSMIC COSMIC
17g.17793539T>GCA398545801RAI1c.591T>G (p.Ile197Met)
17g.17793540G>ACA398545802RAI1c.592G>A (p.Ala198Thr)
17g.17793540G>CCA398545803RAI1c.592G>C (p.Ala198Pro)
17g.17793540G>TCA398545804RAI1c.592G>T (p.Ala198Ser)
17g.17793541C>ACA398545805RAI1c.593C>A (p.Ala198Asp)
17g.17793541C>GCA398545807RAI1c.593C>G (p.Ala198Gly)
17g.17793541C>TCA398545806RAI1c.593C>T (p.Ala198Val)
17g.17793542C>ACA498422822RAI1c.594C>A (p.Ala198=)
17g.17793542C>GCA498422824RAI1c.594C>G (p.Ala198=)
17g.17793542C>TCA498422823RAI1c.594C>T (p.Ala198=)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
17g.17793543T>ACA398545808RAI1c.595T>A (p.Ser199Thr)
17g.17793543T>CCA398545809RAI1c.595T>C (p.Ser199Pro)
17g.17793543T>GCA398545810RAI1c.595T>G (p.Ser199Ala)
17g.17793544C>ACA398545811RAI1c.596C>A (p.Ser199Tyr)
17g.17793544C>GCA398545812RAI1c.596C>G (p.Ser199Cys)
gnomAD v4
17g.17793544C>TCA398545813RAI1c.596C>T (p.Ser199Phe)
COSMIC
17g.17793545C>ACA498422826RAI1c.597C>A (p.Ser199=)
17g.17793545C>GCA498422827RAI1c.597C>G (p.Ser199=)
17g.17793545C>TCA498422829RAI1c.597C>T (p.Ser199=)
gnomAD v4 COSMIC COSMIC
17g.17793546C>ACA398545814RAI1c.598C>A (p.Pro200Thr)
17g.17793546C=CA2250666238RAI1c.598C= (p.Pro200=)
17g.17793546C>GCA398545815RAI1c.598C>G (p.Pro200Ala)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.17793546C>TCA288367145RAI1c.598C>T (p.Pro200Ser)
dbSNP gnomAD v3 gnomAD v4
17g.17793547C>ACA398545816RAI1c.599C>A (p.Pro200His)
17g.17793547C=CA2250666253RAI1c.599C= (p.Pro200=)
17g.17793547C>GCA398545817RAI1c.599C>G (p.Pro200Arg)
17g.17793547C>TCA398545818RAI1c.599C>T (p.Pro200Leu)
dbSNP gnomAD v4 COSMIC COSMIC
17g.17793548delCA2695201647RAI1c.600del (p.Leu201CysfsTer?)
c.600del (p.Leu201CysfsTer29)
ClinVar
17g.17793548T>ACA498422831RAI1c.600T>A (p.Pro200=)
17g.17793548T>CCA498422832RAI1c.600T>C (p.Pro200=)
17g.17793548T>GCA498422833RAI1c.600T>G (p.Pro200=)
17g.17793549C>ACA398545819RAI1c.601C>A (p.Leu201Met)
17g.17793549C>GCA398545820RAI1c.601C>G (p.Leu201Val)
COSMIC COSMIC
17g.17793549C>TCA498422834RAI1c.601C>T (p.Leu201=)
17g.17793550T>ACA398545821RAI1c.602T>A (p.Leu201Gln)
17g.17793550T>CCA398545822RAI1c.602T>C (p.Leu201Pro)
17g.17793550T>GCA398545823RAI1c.602T>G (p.Leu201Arg)
17g.17793551G>ACA498422840RAI1c.603G>A (p.Leu201=)
dbSNP
17g.17793551G>CCA498422839RAI1c.603G>C (p.Leu201=)
17g.17793551G=CA2250666256RAI1c.603G= (p.Leu201=)
17g.17793551G>TCA498422838RAI1c.603G>T (p.Leu201=)
17g.17793552C>ACA398545824RAI1c.604C>A (p.Pro202Thr)
17g.17793552C=CA2250666261RAI1c.604C= (p.Pro202=)
17g.17793552C>GCA398545825RAI1c.604C>G (p.Pro202Ala)
17g.17793552C>TCA398545826RAI1c.604C>T (p.Pro202Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.17793553C>ACA398545827RAI1c.605C>A (p.Pro202His)
17g.17793553C>GCA398545828RAI1c.605C>G (p.Pro202Arg)
17g.17793553C>TCA398545829RAI1c.605C>T (p.Pro202Leu)
gnomAD v4
17g.17793554C>ACA498422844RAI1c.606C>A (p.Pro202=)
17g.17793554C=CA2250666268RAI1c.606C= (p.Pro202=)
17g.17793554C>GCA498422845RAI1c.606C>G (p.Pro202=)
dbSNP gnomAD v4
17g.17793554C>TCA288367148RAI1c.606C>T (p.Pro202=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.17793555T>ACA398545830RAI1c.607T>A (p.Phe203Ile)
gnomAD v4
17g.17793555T>CCA398545831RAI1c.607T>C (p.Phe203Leu)
gnomAD v4
17g.17793555T>GCA398545832RAI1c.607T>G (p.Phe203Val)
17g.17793556T>ACA398545835RAI1c.608T>A (p.Phe203Tyr)
gnomAD v4
17g.17793556T>CCA398545833RAI1c.608T>C (p.Phe203Ser)
17g.17793556T>GCA398545834RAI1c.608T>G (p.Phe203Cys)
17g.17793556_17793557delinsTCCA2250666275RAI1c.608_609delinsTC (p.Phe203=)
17g.17793557C>ACA398545836RAI1c.609C>A (p.Phe203Leu)
17g.17793557C=CA2250666286RAI1c.609C= (p.Phe203=)
17g.17793557C>GCA8418158RAI1c.609C>G (p.Phe203Leu)
ClinVar dbSNP ExAC gnomAD v2
17g.17793557C>TCA8418159RAI1c.609C>T (p.Phe203=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.17793561delCA1139665264RAI1c.613del (p.Gln205ArgfsTer?)
c.613del (p.Gln205ArgfsTer25)
ClinVar dbSNP
17g.17793558C>ACA398545837RAI1c.610C>A (p.Pro204Thr)
17g.17793558C=CA2250666299RAI1c.610C= (p.Pro204=)
17g.17793558C>GCA398545838RAI1c.610C>G (p.Pro204Ala)
17g.17793558C>TCA154868RAI1c.610C>T (p.Pro204Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793559C>ACA398545839RAI1c.611C>A (p.Pro204His)
17g.17793559C>GCA398545840RAI1c.611C>G (p.Pro204Arg)
17g.17793559C>TCA398545841RAI1c.611C>T (p.Pro204Leu)
17g.17793560C>ACA498422856RAI1c.612C>A (p.Pro204=)
17g.17793560C>GCA498422858RAI1c.612C>G (p.Pro204=)
17g.17793560C>TCA498422861RAI1c.612C>T (p.Pro204=)
gnomAD v4
17g.17793561C>ACA398545842RAI1c.613C>A (p.Gln205Lys)
ClinVar dbSNP gnomAD v4
17g.17793561C>GCA398545843RAI1c.613C>G (p.Gln205Glu)
17g.17793561C>TCA398545844RAI1c.613C>T (p.Gln205Ter)
17g.17793562A>CCA398545847RAI1c.614A>C (p.Gln205Pro)
17g.17793562A>GCA398545846RAI1c.614A>G (p.Gln205Arg)
17g.17793562A>TCA398545845RAI1c.614A>T (p.Gln205Leu)
17g.17793563G>ACA498422863RAI1c.615G>A (p.Gln205=)
17g.17793563G>CCA398545848RAI1c.615G>C (p.Gln205His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.17793563G=CA2250666309RAI1c.615G= (p.Gln205=)
17g.17793563G>TCA398545849RAI1c.615G>T (p.Gln205His)
17g.17793564G>ACA8418160RAI1c.616G>A (p.Gly206Ser)
c.616G>A (p.Gly206Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793564G>CCA398545851RAI1c.616G>C (p.Gly206Arg)
17g.17793564G=CA2250666313RAI1c.616G= (p.Gly206=)
17g.17793564G>TCA398545850RAI1c.616G>T (p.Gly206Cys)
c.616G>T (p.Gly206Trp)
17g.17793565G>ACA398545852RAI1c.617G>A (p.Gly206Asp)
c.616+1G>A (n.616+1G>A)
dbSNP
17g.17793565G>CCA398545853RAI1c.617G>C (p.Gly206Ala)
c.616+1G>C (n.616+1G>C)
17g.17793565G=CA2250666318RAI1c.617G= (p.Gly206=)
c.616+1G= (n.616+1G=)
17g.17793565G>TCA288367165RAI1c.617G>T (p.Gly206Val)
c.616+1G>T (n.616+1G>T)
dbSNP gnomAD v2 gnomAD v4
17g.17793566T>ACA498422865RAI1c.618T>A (p.Gly206=)
c.616+2T>A (n.616+2T>A)
17g.17793566T>CCA498422867RAI1c.618T>C (p.Gly206=)
c.616+2T>C (n.616+2T>C)
gnomAD v4
17g.17793566T>GCA498422868RAI1c.618T>G (p.Gly206=)
c.616+2T>G (n.616+2T>G)
17g.17793567A=CA2250666330RAI1c.619A= (p.Thr207=)
c.616+3A= (n.616+3A=)
17g.17793567A>CCA398545854RAI1c.619A>C (p.Thr207Pro)
c.616+3A>C (n.616+3A>C)
17g.17793567A>GCA398545855RAI1c.619A>G (p.Thr207Ala)
c.616+3A>G (n.616+3A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.17793567A>TCA398545856RAI1c.619A>T (p.Thr207Ser)
c.616+3A>T (n.616+3A>T)
ClinVar dbSNP
17g.17793568C>ACA398545857RAI1c.620C>A (p.Thr207Asn)
c.616+4C>A (n.616+4C>A)
17g.17793568C=CA2250666334RAI1c.620C= (p.Thr207=)
c.616+4C= (n.616+4C=)
17g.17793568C>GCA398545858RAI1c.620C>G (p.Thr207Ser)
c.616+4C>G (n.616+4C>G)
dbSNP gnomAD v4
17g.17793568C>TCA398545859RAI1c.620C>T (p.Thr207Ile)
c.616+4C>T (n.616+4C>T)
gnomAD v4
17g.17793569C>ACA498422870RAI1c.621C>A (p.Thr207=)
c.616+5C>A (n.616+5C>A)
dbSNP gnomAD v3 gnomAD v4
17g.17793569C=CA2250666339RAI1c.621C= (p.Thr207=)
c.616+5C= (n.616+5C=)
17g.17793569C>GCA498422871RAI1c.621C>G (p.Thr207=)
c.616+5C>G (n.616+5C>G)
17g.17793569C>TCA498422872RAI1c.621C>T (p.Thr207=)
c.616+5C>T (n.616+5C>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.17793570C>ACA398545860RAI1c.622C>A (p.His208Asn)
c.616+6C>A (n.616+6C>A)
17g.17793570C=CA2250666340RAI1c.622C= (p.His208=)
c.616+6C= (n.616+6C=)
17g.17793570C>GCA398545861RAI1c.622C>G (p.His208Asp)
c.616+6C>G (n.616+6C>G)
17g.17793570C>TCA398545862RAI1c.622C>T (p.His208Tyr)
c.616+6C>T (n.616+6C>T)
dbSNP gnomAD v2 gnomAD v4
17g.17793571A=CA2250666341RAI1c.623A= (p.His208=)
c.616+7A= (n.616+7A=)
17g.17793571A>CCA398545863RAI1c.623A>C (p.His208Pro)
c.616+7A>C (n.616+7A>C)
17g.17793571A>GCA398545865RAI1c.623A>G (p.His208Arg)
c.616+7A>G (n.616+7A>G)
17g.17793571A>TCA398545864RAI1c.623A>T (p.His208Leu)
c.616+7A>T (n.616+7A>T)
dbSNP
17g.17793572C>ACA398545866RAI1c.624C>A (p.His208Gln)
c.616+8C>A (n.616+8C>A)
17g.17793572C>GCA398545867RAI1c.624C>G (p.His208Gln)
c.616+8C>G (n.616+8C>G)
17g.17793572C>TCA498422877RAI1c.624C>T (p.His208=)
c.616+8C>T (n.616+8C>T)
17g.17793573T>ACA398545868RAI1c.625T>A (p.Phe209Ile)
c.616+9T>A (n.616+9T>A)
17g.17793573T>CCA398545869RAI1c.625T>C (p.Phe209Leu)
c.616+9T>C (n.616+9T>C)
17g.17793573T>GCA398545870RAI1c.625T>G (p.Phe209Val)
c.616+9T>G (n.616+9T>G)
17g.17793574_17793575delCA2739290909RAI1c.626_627del (p.Phe209SerfsTer28)
c.616+10_616+11del (n.616+10_616+11del)
17g.17793574T>ACA398545871RAI1c.626T>A (p.Phe209Tyr)
c.616+10T>A (n.616+10T>A)
17g.17793574T>CCA398545872RAI1c.626T>C (p.Phe209Ser)
c.616+10T>C (n.616+10T>C)
17g.17793574T>GCA398545873RAI1c.626T>G (p.Phe209Cys)
c.616+10T>G (n.616+10T>G)
17g.17793575T>ACA398545874RAI1c.627T>A (p.Phe209Leu)
c.616+11T>A (n.616+11T>A)
17g.17793575T>CCA498422878RAI1c.627T>C (p.Phe209=)
c.616+11T>C (n.616+11T>C)
ClinVar gnomAD v4
17g.17793575T>GCA398545875RAI1c.627T>G (p.Phe209Leu)
c.616+11T>G (n.616+11T>G)
17g.17793576C>ACA398545877RAI1c.628C>A (p.Pro210Thr)
c.616+12C>A (n.616+12C>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.17793576C=CA2250666344RAI1c.628C= (p.Pro210=)
c.616+12C= (n.616+12C=)
17g.17793576C>GCA398545878RAI1c.628C>G (p.Pro210Ala)
c.616+12C>G (n.616+12C>G)
gnomAD v4
17g.17793576C>TCA398545876RAI1c.628C>T (p.Pro210Ser)
c.616+12C>T (n.616+12C>T)
17g.17793577C>ACA398545879RAI1c.629C>A (p.Pro210His)
c.616+13C>A (n.616+13C>A)
17g.17793577C>GCA398545880RAI1c.629C>G (p.Pro210Arg)
c.616+13C>G (n.616+13C>G)
ClinVar
17g.17793577C>TCA398545881RAI1c.629C>T (p.Pro210Leu)
c.616+13C>T (n.616+13C>T)
gnomAD v4
17g.17793578T>ACA498422879RAI1c.630T>A (p.Pro210=)
c.616+14T>A (n.616+14T>A)
17g.17793578T>CCA498422880RAI1c.630T>C (p.Pro210=)
c.616+14T>C (n.616+14T>C)
17g.17793578T>GCA498422883RAI1c.630T>G (p.Pro210=)
c.616+14T>G (n.616+14T>G)
17g.17793579C>ACA398545882RAI1c.631C>A (p.Gln211Lys)
c.616+15C>A (n.616+15C>A)
17g.17793579C>GCA398545883RAI1c.631C>G (p.Gln211Glu)
c.616+15C>G (n.616+15C>G)
17g.17793579C>TCA398545884RAI1c.631C>T (p.Gln211Ter)
c.616+15C>T (n.616+15C>T)
17g.17793580A>CCA398545887RAI1c.632A>C (p.Gln211Pro)
c.616+16A>C (n.616+16A>C)
17g.17793580A>GCA398545885RAI1c.632A>G (p.Gln211Arg)
c.616+16A>G (n.616+16A>G)
COSMIC COSMIC
17g.17793580A>TCA398545886RAI1c.632A>T (p.Gln211Leu)
c.616+16A>T (n.616+16A>T)
17g.17793581G>ACA498422886RAI1c.633G>A (p.Gln211=)
c.616+17G>A (n.616+17G>A)
17g.17793581G>CCA398545888RAI1c.633G>C (p.Gln211His)
c.616+17G>C (n.616+17G>C)
17g.17793581G>TCA398545889RAI1c.633G>T (p.Gln211His)
c.616+17G>T (n.616+17G>T)
17g.17793582C>ACA398545890RAI1c.634C>A (p.His212Asn)
c.616+18C>A (n.616+18C>A)
17g.17793582C=CA2250666347RAI1c.634C= (p.His212=)
c.616+18C= (n.616+18C=)
17g.17793582C>GCA398545891RAI1c.634C>G (p.His212Asp)
c.616+18C>G (n.616+18C>G)
17g.17793582C>TCA398545892RAI1c.634C>T (p.His212Tyr)
c.616+18C>T (n.616+18C>T)
dbSNP gnomAD v2 gnomAD v4
17g.17793583A>CCA398545893RAI1c.635A>C (p.His212Pro)
c.616+19A>C (n.616+19A>C)
17g.17793583A>GCA398545895RAI1c.635A>G (p.His212Arg)
c.616+19A>G (n.616+19A>G)
dbSNP
17g.17793583A>TCA398545894RAI1c.635A>T (p.His212Leu)
c.616+19A>T (n.616+19A>T)
17g.17793584T>ACA398545896RAI1c.636T>A (p.His212Gln)
c.616+20T>A (n.616+20T>A)
17g.17793584T>CCA498422890RAI1c.636T>C (p.His212=)
c.616+20T>C (n.616+20T>C)
gnomAD v4
17g.17793584T>GCA398545897RAI1c.636T>G (p.His212Gln)
c.616+20T>G (n.616+20T>G)
17g.17793585T>ACA398545898RAI1c.637T>A (p.Ser213Thr)
c.616+21T>A (n.616+21T>A)
17g.17793585T>CCA398545899RAI1c.637T>C (p.Ser213Pro)
c.616+21T>C (n.616+21T>C)
17g.17793585T>GCA398545900RAI1c.637T>G (p.Ser213Ala)
c.616+21T>G (n.616+21T>G)
17g.17793586C>ACA398545901RAI1c.638C>A (p.Ser213Tyr)
c.616+22C>A (n.616+22C>A)
17g.17793586C=CA2250666350RAI1c.638C= (p.Ser213=)
c.616+22C= (n.616+22C=)
17g.17793586C>GCA398545902RAI1c.638C>G (p.Ser213Cys)
c.616+22C>G (n.616+22C>G)
17g.17793586C>TCA8418161RAI1c.638C>T (p.Ser213Phe)
c.616+22C>T (n.616+22C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.17793587C>ACA498422892RAI1c.639C>A (p.Ser213=)
c.616+23C>A (n.616+23C>A)
17g.17793587C>GCA498422893RAI1c.639C>G (p.Ser213=)
c.616+23C>G (n.616+23C>G)
17g.17793587C>TCA498422894RAI1c.639C>T (p.Ser213=)
c.616+23C>T (n.616+23C>T)
17g.17793588C>ACA398545903RAI1c.640C>A (p.Gln214Lys)
c.616+24C>A (n.616+24C>A)
17g.17793588C=CA2250666353RAI1c.640C= (p.Gln214=)
c.616+24C= (n.616+24C=)
17g.17793588C>GCA398545904RAI1c.640C>G (p.Gln214Glu)
c.616+24C>G (n.616+24C>G)
17g.17793588C>TCA398545905RAI1c.640C>T (p.Gln214Ter)
c.616+24C>T (n.616+24C>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.17793589A>CCA398545908RAI1c.641A>C (p.Gln214Pro)
c.616+25A>C (n.616+25A>C)
17g.17793589A>GCA398545907RAI1c.641A>G (p.Gln214Arg)
c.616+25A>G (n.616+25A>G)
gnomAD v4
17g.17793589A>TCA398545906RAI1c.641A>T (p.Gln214Leu)
c.616+25A>T (n.616+25A>T)
17g.17793590G>ACA498422898RAI1c.642G>A (p.Gln214=)
c.616+26G>A (n.616+26G>A)
17g.17793590G>CCA398545909RAI1c.642G>C (p.Gln214His)
c.616+26G>C (n.616+26G>C)
17g.17793590G>TCA398545910RAI1c.642G>T (p.Gln214His)
c.616+26G>T (n.616+26G>T)
17g.17793591T>ACA398545911RAI1c.643T>A (p.Ser215Thr)
c.616+27T>A (n.616+27T>A)
17g.17793591T>CCA398545912RAI1c.643T>C (p.Ser215Pro)
c.616+27T>C (n.616+27T>C)
ClinVar dbSNP gnomAD v4
17g.17793591T>GCA398545913RAI1c.643T>G (p.Ser215Ala)
c.616+27T>G (n.616+27T>G)
17g.17793591T=CA2250666359RAI1c.643T= (p.Ser215=)
c.616+27T= (n.616+27T=)
17g.17793592C>ACA8418162RAI1c.644C>A (p.Ser215Tyr)
c.616+28C>A (n.616+28C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.17793592C=CA2250666364RAI1c.644C= (p.Ser215=)
c.616+28C= (n.616+28C=)
17g.17793592C>GCA398545914RAI1c.644C>G (p.Ser215Cys)
c.616+28C>G (n.616+28C>G)
17g.17793592C>TCA398545915RAI1c.644C>T (p.Ser215Phe)
c.616+28C>T (n.616+28C>T)
17g.17793593C>ACA498422904RAI1c.645C>A (p.Ser215=)
c.616+29C>A (n.616+29C>A)
17g.17793593C=CA2250666376RAI1c.645C= (p.Ser215=)
c.616+29C= (n.616+29C=)
17g.17793593C>GCA498422905RAI1c.645C>G (p.Ser215=)
c.616+29C>G (n.616+29C>G)
17g.17793593C>TCA8418163RAI1c.645C>T (p.Ser215=)
c.616+29C>T (n.616+29C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793594T>ACA398545916RAI1c.646T>A (p.Phe216Ile)
c.616+30T>A (n.616+30T>A)
17g.17793594T>CCA398545917RAI1c.646T>C (p.Phe216Leu)
c.616+30T>C (n.616+30T>C)
gnomAD v4
17g.17793594T>GCA398545918RAI1c.646T>G (p.Phe216Val)
c.616+30T>G (n.616+30T>G)
17g.17793595delCA2697559439RAI1c.647del (p.Phe216SerfsTer?)
c.616+31del (n.616+31del)
ClinVar
17g.17793595T>ACA398545919RAI1c.647T>A (p.Phe216Tyr)
c.616+31T>A (n.616+31T>A)
17g.17793595T>CCA398545920RAI1c.647T>C (p.Phe216Ser)
c.616+31T>C (n.616+31T>C)
17g.17793595T>GCA398545921RAI1c.647T>G (p.Phe216Cys)
c.616+31T>G (n.616+31T>G)
gnomAD v4
17g.17793596C>ACA398545922RAI1c.648C>A (p.Phe216Leu)
c.616+32C>A (n.616+32C>A)
17g.17793596C=CA2250666379RAI1c.648C= (p.Phe216=)
c.616+32C= (n.616+32C=)
17g.17793596C>GCA288367170RAI1c.648C>G (p.Phe216Leu)
c.616+32C>G (n.616+32C>G)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.17793596C>TCA498422910RAI1c.648C>T (p.Phe216=)
c.616+32C>T (n.616+32C>T)
17g.17793597_17793605delCA2636388223RAI1c.649_657del (p.Pro217_Ser219del)
c.617-33_617-25del (n.617-33_617-25del)
gnomAD v4
17g.17793597C>ACA398545923RAI1c.649C>A (p.Pro217Thr)
c.617-33C>A (n.617-33C>A)
17g.17793597C>GCA398545924RAI1c.649C>G (p.Pro217Ala)
c.617-33C>G (n.617-33C>G)
17g.17793597C>TCA398545925RAI1c.649C>T (p.Pro217Ser)
c.617-33C>T (n.617-33C>T)
COSMIC COSMIC
17g.17793597_17793600delinsCCCACA2250666381RAI1c.649_652delinsCCCA (p.Pro217=)
c.617-33_617-30delinsCCCA (n.617-33_617-30delinsCCCA)
17g.17793598C>ACA398545926RAI1c.650C>A (p.Pro217His)
c.617-32C>A (n.617-32C>A)
17g.17793598C=CA2250666387RAI1c.650C= (p.Pro217=)
c.617-32C= (n.617-32C=)
17g.17793598C>GCA398545927RAI1c.650C>G (p.Pro217Arg)
c.617-32C>G (n.617-32C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.17793598C>TCA398545928RAI1c.650C>T (p.Pro217Leu)
c.617-32C>T (n.617-32C>T)
gnomAD v4
17g.17793600_17793602delCA726622472RAI1c.652_654del (p.Thr218del)
c.617-30_617-28del (n.617-30_617-28del)
dbSNP
17g.17793599C>ACA498422914RAI1c.651C>A (p.Pro217=)
c.617-31C>A (n.617-31C>A)
dbSNP gnomAD v3 gnomAD v4
17g.17793599C=CA2250666396RAI1c.651C= (p.Pro217=)
c.617-31C= (n.617-31C=)
17g.17793599C>GCA498422915RAI1c.651C>G (p.Pro217=)
c.617-31C>G (n.617-31C>G)
dbSNP gnomAD v2 gnomAD v4
17g.17793599C>TCA498422916RAI1c.651C>T (p.Pro217=)
c.617-31C>T (n.617-31C>T)
ClinVar dbSNP
17g.17793600A=CA2250666403RAI1c.652A= (p.Thr218=)
c.617-30A= (n.617-30A=)
17g.17793600A>CCA8418164RAI1c.652A>C (p.Thr218Pro)
c.617-30A>C (n.617-30A>C)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.17793600A>GCA398545929RAI1c.652A>G (p.Thr218Ala)
c.617-30A>G (n.617-30A>G)
17g.17793600A>TCA398545930RAI1c.652A>T (p.Thr218Ser)
c.617-30A>T (n.617-30A>T)
17g.17793601C>ACA398545931RAI1c.653C>A (p.Thr218Asn)
c.617-29C>A (n.617-29C>A)
gnomAD v4
17g.17793601C=CA2250666408RAI1c.653C= (p.Thr218=)
c.617-29C= (n.617-29C=)
17g.17793601C>GCA398545932RAI1c.653C>G (p.Thr218Ser)
c.617-29C>G (n.617-29C>G)
17g.17793601C>TCA288367175RAI1c.653C>T (p.Thr218Ile)
c.617-29C>T (n.617-29C>T)
dbSNP gnomAD v2 gnomAD v4
17g.17793602C>ACA8418165RAI1c.654C>A (p.Thr218=)
c.617-28C>A (n.617-28C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793602C=CA2250666414RAI1c.654C= (p.Thr218=)
c.617-28C= (n.617-28C=)
17g.17793602C>GCA498422923RAI1c.654C>G (p.Thr218=)
c.617-28C>G (n.617-28C>G)
gnomAD v4
17g.17793602C>TCA498422924RAI1c.654C>T (p.Thr218=)
c.617-28C>T (n.617-28C>T)
gnomAD v4
17g.17793603T>ACA398545933RAI1c.655T>A (p.Ser219Thr)
c.617-27T>A (n.617-27T>A)
17g.17793603T>CCA398545935RAI1c.655T>C (p.Ser219Pro)
c.617-27T>C (n.617-27T>C)
ClinVar dbSNP
17g.17793603T>GCA398545934RAI1c.655T>G (p.Ser219Ala)
c.617-27T>G (n.617-27T>G)
17g.17793604C>ACA398545936RAI1c.656C>A (p.Ser219Tyr)
c.617-26C>A (n.617-26C>A)
17g.17793604C=CA2250666418RAI1c.656C= (p.Ser219=)
c.617-26C= (n.617-26C=)
17g.17793604C>GCA398545937RAI1c.656C>G (p.Ser219Cys)
c.617-26C>G (n.617-26C>G)
dbSNP gnomAD v4
17g.17793604C>TCA398545938RAI1c.656C>T (p.Ser219Phe)
c.617-26C>T (n.617-26C>T)
17g.17793605C>ACA498422934RAI1c.657C>A (p.Ser219=)
c.617-25C>A (n.617-25C>A)
17g.17793605C>GCA498422933RAI1c.657C>G (p.Ser219=)
c.617-25C>G (n.617-25C>G)
17g.17793605C>TCA498422932RAI1c.657C>T (p.Ser219=)
c.617-25C>T (n.617-25C>T)
gnomAD v4
17g.17793609_17793617delCA2573153183RAI1c.661_669del (p.Thr221_Ser223del)
c.617-21_617-13del (n.617-21_617-13del)
ClinVar dbSNP
17g.17793606T>ACA398545939RAI1c.658T>A (p.Ser220Thr)
c.617-24T>A (n.617-24T>A)
gnomAD v4
17g.17793606T>CCA398545940RAI1c.658T>C (p.Ser220Pro)
c.617-24T>C (n.617-24T>C)
17g.17793606T>GCA398545941RAI1c.658T>G (p.Ser220Ala)
c.617-24T>G (n.617-24T>G)
17g.17793607C>ACA398545942RAI1c.659C>A (p.Ser220Tyr)
c.617-23C>A (n.617-23C>A)
17g.17793607C>GCA398545943RAI1c.659C>G (p.Ser220Cys)
c.617-23C>G (n.617-23C>G)
ClinVar
17g.17793607C>TCA398545944RAI1c.659C>T (p.Ser220Phe)
c.617-23C>T (n.617-23C>T)
ClinVar
17g.17793608C>ACA498422939RAI1c.660C>A (p.Ser220=)
c.617-22C>A (n.617-22C>A)
17g.17793608C=CA2250666428RAI1c.660C= (p.Ser220=)
c.617-22C= (n.617-22C=)
17g.17793608C>GCA498422940RAI1c.660C>G (p.Ser220=)
c.617-22C>G (n.617-22C>G)
17g.17793608C>TCA243536RAI1c.660C>T (p.Ser220=)
c.617-22C>T (n.617-22C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793609A=CA2250666434RAI1c.661A= (p.Thr221=)
c.617-21A= (n.617-21A=)
17g.17793609A>CCA398545945RAI1c.661A>C (p.Thr221Pro)
c.617-21A>C (n.617-21A>C)
17g.17793609A>GCA398545946RAI1c.661A>G (p.Thr221Ala)
c.617-21A>G (n.617-21A>G)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.17793609A>TCA398545947RAI1c.661A>T (p.Thr221Ser)
c.617-21A>T (n.617-21A>T)
17g.17793609_17793623dupCA2250666432RAI1c.661_675dup (p.Ser225_Val226insThrTyrSerSerSer)
c.617-21_617-7dup (n.617-21_617-7dup)
dbSNP
17g.17793610C>ACA398545948RAI1c.662C>A (p.Thr221Asn)
c.617-20C>A (n.617-20C>A)
17g.17793610C>GCA398545950RAI1c.662C>G (p.Thr221Ser)
c.617-20C>G (n.617-20C>G)
17g.17793610C>TCA398545949RAI1c.662C>T (p.Thr221Ile)
c.617-20C>T (n.617-20C>T)
17g.17793611C>ACA288367180RAI1c.663C>A (p.Thr221=)
c.617-19C>A (n.617-19C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.17793611C=CA2250666437RAI1c.663C= (p.Thr221=)
c.617-19C= (n.617-19C=)
17g.17793611C>GCA498422945RAI1c.663C>G (p.Thr221=)
c.617-19C>G (n.617-19C>G)
17g.17793611C>TCA498422948RAI1c.663C>T (p.Thr221=)
c.617-19C>T (n.617-19C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.17793613_17793615dupCA2576187124RAI1c.665_667dup (p.Tyr222_Ser223insTyr)
c.617-17_617-15dup (n.617-17_617-15dup)
17g.17793612T>ACA398545951RAI1c.664T>A (p.Tyr222Asn)
c.617-18T>A (n.617-18T>A)
17g.17793612T>CCA398545952RAI1c.664T>C (p.Tyr222His)
c.617-18T>C (n.617-18T>C)
17g.17793612T>GCA398545953RAI1c.664T>G (p.Tyr222Asp)
c.617-18T>G (n.617-18T>G)
17g.17793613A=CA2250666442RAI1c.665A= (p.Tyr222=)
c.617-17A= (n.617-17A=)
17g.17793613A>CCA398545954RAI1c.665A>C (p.Tyr222Ser)
c.617-17A>C (n.617-17A>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.17793613A>GCA398545955RAI1c.665A>G (p.Tyr222Cys)
c.617-17A>G (n.617-17A>G)
17g.17793613A>TCA398545956RAI1c.665A>T (p.Tyr222Phe)
c.617-17A>T (n.617-17A>T)
17g.17793613_17793616delinsACTCCA2250666443RAI1c.665_668delinsACTC (p.Tyr222=)
c.617-17_617-14delinsACTC (n.617-17_617-14delinsACTC)
17g.17793614C>ACA398545957RAI1c.666C>A (p.Tyr222Ter)
c.617-16C>A (n.617-16C>A)
17g.17793614C=CA2250666453RAI1c.666C= (p.Tyr222=)
c.617-16C= (n.617-16C=)
17g.17793614C>GCA398545958RAI1c.666C>G (p.Tyr222Ter)
c.617-16C>G (n.617-16C>G)
17g.17793614C>TCA8418167RAI1c.666C>T (p.Tyr222=)
c.617-16C>T (n.617-16C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793620_17793622dupCA915949614RAI1c.672_674dup (p.Ser225_Val226insSer)
c.617-10_617-8dup (n.617-10_617-8dup)
ClinVar dbSNP
17g.17793620_17793622delCA8418166RAI1c.672_674del (p.Ser225del)
c.617-10_617-8del (n.617-10_617-8del)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.17793615T>ACA398545961RAI1c.667T>A (p.Ser223Thr)
c.617-15T>A (n.617-15T>A)
ClinVar dbSNP
17g.17793615T>CCA398545960RAI1c.667T>C (p.Ser223Pro)
c.617-15T>C (n.617-15T>C)
17g.17793615T>GCA398545959RAI1c.667T>G (p.Ser223Ala)
c.617-15T>G (n.617-15T>G)
17g.17793615T=CA2250666461RAI1c.667T= (p.Ser223=)
c.617-15T= (n.617-15T=)
17g.17793616C>ACA398545962RAI1c.668C>A (p.Ser223Tyr)
c.617-14C>A (n.617-14C>A)
ClinVar
17g.17793616C=CA2250666465RAI1c.668C= (p.Ser223=)
c.617-14C= (n.617-14C=)
17g.17793616C>GCA8418168RAI1c.668C>G (p.Ser223Cys)
c.617-14C>G (n.617-14C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.17793616C>TCA398545963RAI1c.668C>T (p.Ser223Phe)
c.617-14C>T (n.617-14C>T)
17g.17793617C>ACA498422963RAI1c.669C>A (p.Ser223=)
c.617-13C>A (n.617-13C>A)
17g.17793617C=CA2250666473RAI1c.669C= (p.Ser223=)
c.617-13C= (n.617-13C=)
17g.17793617C>GCA498422964RAI1c.669C>G (p.Ser223=)
c.617-13C>G (n.617-13C>G)
gnomAD v4
17g.17793617C>TCA498422965RAI1c.669C>T (p.Ser223=)
c.617-13C>T (n.617-13C>T)
dbSNP gnomAD v2 gnomAD v4
17g.17793618T>ACA398545964RAI1c.670T>A (p.Ser224Thr)
c.617-12T>A (n.617-12T>A)
gnomAD v4
17g.17793618T>CCA398545966RAI1c.670T>C (p.Ser224Pro)
c.617-12T>C (n.617-12T>C)
17g.17793618T>GCA398545965RAI1c.670T>G (p.Ser224Ala)
c.617-12T>G (n.617-12T>G)
17g.17793619C>ACA398545967RAI1c.671C>A (p.Ser224Tyr)
c.617-11C>A (n.617-11C>A)
17g.17793619C=CA2250666483RAI1c.671C= (p.Ser224=)
c.617-11C= (n.617-11C=)
17g.17793619C>GCA398545969RAI1c.671C>G (p.Ser224Cys)
c.617-11C>G (n.617-11C>G)
17g.17793619C>TCA398545968RAI1c.671C>T (p.Ser224Phe)
c.617-11C>T (n.617-11C>T)
dbSNP COSMIC COSMIC
17g.17793620C>ACA498422974RAI1c.672C>A (p.Ser224=)
c.617-10C>A (n.617-10C>A)
17g.17793620C=CA2250666488RAI1c.672C= (p.Ser224=)
c.617-10C= (n.617-10C=)
17g.17793620C>GCA498422972RAI1c.672C>G (p.Ser224=)
c.617-10C>G (n.617-10C>G)
17g.17793620C>TCA498422970RAI1c.672C>T (p.Ser224=)
c.617-10C>T (n.617-10C>T)
dbSNP gnomAD v2
17g.17793621T>ACA288367190RAI1c.673T>A (p.Ser225Thr)
c.617-9T>A (n.617-9T>A)
dbSNP
17g.17793621T>CCA398545971RAI1c.673T>C (p.Ser225Pro)
c.617-9T>C (n.617-9T>C)
17g.17793621T>GCA398545970RAI1c.673T>G (p.Ser225Ala)
c.617-9T>G (n.617-9T>G)
17g.17793621T=CA2250666510RAI1c.673T= (p.Ser225=)
c.617-9T= (n.617-9T=)
17g.17793622C>ACA398545972RAI1c.674C>A (p.Ser225Tyr)
c.617-8C>A (n.617-8C>A)
17g.17793622C=CA2250666513RAI1c.674C= (p.Ser225=)
c.617-8C= (n.617-8C=)
17g.17793622C>GCA398545973RAI1c.674C>G (p.Ser225Cys)
c.617-8C>G (n.617-8C>G)
17g.17793622C>TCA398545974RAI1c.674C>T (p.Ser225Phe)
c.617-8C>T (n.617-8C>T)
dbSNP
17g.17793623T>ACA498422976RAI1c.675T>A (p.Ser225=)
c.617-7T>A (n.617-7T>A)
17g.17793623T>CCA498422977RAI1c.675T>C (p.Ser225=)
c.617-7T>C (n.617-7T>C)
dbSNP
17g.17793623T>GCA498422978RAI1c.675T>G (p.Ser225=)
c.617-7T>G (n.617-7T>G)
17g.17793623T=CA2250666515RAI1c.675T= (p.Ser225=)
c.617-7T= (n.617-7T=)

Number of alleles fetched