Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
17g.17793624G>ACA398545975RAI1c.676G>A (p.Val226Ile)
c.617-6G>A (n.617-6G>A)
17g.17793624G>CCA398545976RAI1c.676G>C (p.Val226Leu)
c.617-6G>C (n.617-6G>C)
17g.17793624G>TCA398545977RAI1c.676G>T (p.Val226Phe)
c.617-6G>T (n.617-6G>T)
17g.17793625T>ACA398545978RAI1c.677T>A (p.Val226Asp)
c.617-5T>A (n.617-5T>A)
17g.17793625T>CCA398545979RAI1c.677T>C (p.Val226Ala)
c.617-5T>C (n.617-5T>C)
17g.17793625T>GCA398545980RAI1c.677T>G (p.Val226Gly)
c.617-5T>G (n.617-5T>G)
17g.17793626C>ACA498422982RAI1c.678C>A (p.Val226=)
c.617-4C>A (n.617-4C>A)
17g.17793626C=CA2250666517RAI1c.678C= (p.Val226=)
c.617-4C= (n.617-4C=)
17g.17793626C>GCA498422984RAI1c.678C>G (p.Val226=)
c.617-4C>G (n.617-4C>G)
dbSNP gnomAD v3 gnomAD v4
17g.17793626C>TCA498422983RAI1c.678C>T (p.Val226=)
c.617-4C>T (n.617-4C>T)
17g.17793627C>ACA398545981RAI1c.679C>A (p.Gln227Lys)
c.617-3C>A (n.617-3C>A)
17g.17793627C>GCA398545982RAI1c.679C>G (p.Gln227Glu)
c.617-3C>G (n.617-3C>G)
17g.17793627C>TCA398545983RAI1c.679C>T (p.Gln227Ter)
c.617-3C>T (n.617-3C>T)
17g.17793628A=CA2250666520RAI1c.680A= (p.Gln227=)
c.617-2A= (n.617-2A=)
17g.17793628A>CCA398545984RAI1c.680A>C (p.Gln227Pro)
c.617-2A>C (n.617-2A>C)
17g.17793628A>GCA288367193RAI1c.680A>G (p.Gln227Arg)
c.617-2A>G (n.617-2A>G)
dbSNP gnomAD v2 gnomAD v4
17g.17793628A>TCA398545985RAI1c.680A>T (p.Gln227Leu)
c.617-2A>T (n.617-2A>T)
gnomAD v4
17g.17793629G>ACA498422603RAI1c.681G>A (p.Gln227=)
c.617-1G>A (n.617-1G>A)
17g.17793629G>CCA398545986RAI1c.681G>C (p.Gln227His)
c.617-1G>C (n.617-1G>C)
17g.17793629G>TCA398545987RAI1c.681G>T (p.Gln227His)
c.617-1G>T (n.617-1G>T)
17g.17793630G>ACA398545988RAI1c.682G>A (p.Gly228Ser)
c.617G>A (p.Gly206Glu)
ClinVar
17g.17793630G>CCA398545989RAI1c.682G>C (p.Gly228Arg)
c.617G>C (p.Gly206Ala)
17g.17793630G>TCA398545990RAI1c.682G>T (p.Gly228Cys)
c.617G>T (p.Gly206Val)
17g.17793631G>ACA398545991RAI1c.683G>A (p.Gly228Asp)
c.618G>A (p.Gly206=)
17g.17793631G>CCA398545992RAI1c.683G>C (p.Gly228Ala)
c.618G>C (p.Gly206=)
17g.17793631G>TCA398545993RAI1c.683G>T (p.Gly228Val)
c.618G>T (p.Gly206=)
gnomAD v4
17g.17793632T>ACA498422605RAI1c.684T>A (p.Gly228=)
c.619T>A (p.Trp207Arg)
17g.17793632T>CCA498422608RAI1c.684T>C (p.Gly228=)
c.619T>C (p.Trp207Arg)
17g.17793632T>GCA498422606RAI1c.684T>G (p.Gly228=)
c.619T>G (p.Trp207Gly)
17g.17793633G>ACA398545996RAI1c.685G>A (p.Gly229Ser)
c.620G>A (p.Trp207Ter)
gnomAD v4
17g.17793633G>CCA398545995RAI1c.685G>C (p.Gly229Arg)
c.620G>C (p.Trp207Ser)
17g.17793633G=CA2250666524RAI1c.685G= (p.Gly229=)
c.620G= (p.Trp207=)
17g.17793633G>TCA398545994RAI1c.685G>T (p.Gly229Cys)
c.620G>T (p.Trp207Leu)
dbSNP gnomAD v3 gnomAD v4
17g.17793634G>ACA398545997RAI1c.686G>A (p.Gly229Asp)
c.621G>A (p.Trp207Ter)
gnomAD v4
17g.17793634G>CCA398545998RAI1c.686G>C (p.Gly229Ala)
c.621G>C (p.Trp207Cys)
17g.17793634G=CA2250666531RAI1c.686G= (p.Gly229=)
c.621G= (p.Trp207=)
17g.17793634G>TCA8418169RAI1c.686G>T (p.Gly229Val)
c.621G>T (p.Trp207Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793635T>ACA498422610RAI1c.687T>A (p.Gly229=)
c.622T>A (p.Trp208Arg)
17g.17793635T>CCA498422611RAI1c.687T>C (p.Gly229=)
c.622T>C (p.Trp208Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.17793635T>GCA498422612RAI1c.687T>G (p.Gly229=)
c.622T>G (p.Trp208Gly)
17g.17793635T=CA2250666534RAI1c.687T= (p.Gly229=)
c.622T= (p.Trp208=)
17g.17793636G>ACA8418170RAI1c.688G>A (p.Gly230Arg)
c.623G>A (p.Trp208Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.17793636G>CCA398545999RAI1c.688G>C (p.Gly230Arg)
c.623G>C (p.Trp208Ser)
17g.17793636G=CA2250666536RAI1c.688G= (p.Gly230=)
c.623G= (p.Trp208=)
17g.17793636G>TCA398546000RAI1c.688G>T (p.Gly230Trp)
c.623G>T (p.Trp208Leu)
17g.17793637G>ACA398546001RAI1c.689G>A (p.Gly230Glu)
c.624G>A (p.Trp208Ter)
dbSNP gnomAD v2 gnomAD v4
17g.17793637G>CCA398546002RAI1c.689G>C (p.Gly230Ala)
c.624G>C (p.Trp208Cys)
17g.17793637G=CA2250666539RAI1c.689G= (p.Gly230=)
c.624G= (p.Trp208=)
17g.17793637G>TCA398546003RAI1c.689G>T (p.Gly230Val)
c.624G>T (p.Trp208Cys)
17g.17793638G>ACA498422616RAI1c.690G>A (p.Gly230=)
c.625G>A (p.Ala209Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.17793638G>CCA498422617RAI1c.690G>C (p.Gly230=)
c.625G>C (p.Ala209Pro)
17g.17793638G=CA2250666543RAI1c.690G= (p.Gly230=)
c.625G= (p.Ala209=)
17g.17793638G>TCA498422618RAI1c.690G>T (p.Gly230=)
c.625G>T (p.Ala209Ser)
dbSNP gnomAD v3 gnomAD v4
17g.17793639C>ACA398546004RAI1c.691C>A (p.Gln231Lys)
c.626C>A (p.Ala209Glu)
17g.17793639C>GCA398546005RAI1c.691C>G (p.Gln231Glu)
c.626C>G (p.Ala209Gly)
17g.17793639C>TCA398546006RAI1c.691C>T (p.Gln231Ter)
c.626C>T (p.Ala209Val)
17g.17793640A>CCA398546009RAI1c.692A>C (p.Gln231Pro)
c.627A>C (p.Ala209=)
17g.17793640A>GCA398546007RAI1c.692A>G (p.Gln231Arg)
c.627A>G (p.Ala209=)
gnomAD v4
17g.17793640A>TCA398546008RAI1c.692A>T (p.Gln231Leu)
c.627A>T (p.Ala209=)
17g.17793641G>ACA498422623RAI1c.693G>A (p.Gln231=)
c.628G>A (p.Gly210Arg)
17g.17793641G>CCA398546010RAI1c.693G>C (p.Gln231His)
c.628G>C (p.Gly210Arg)
17g.17793641G>TCA398546011RAI1c.693G>T (p.Gln231His)
c.628G>T (p.Gly210Trp)
gnomAD v4
17g.17793642G>ACA398546012RAI1c.694G>A (p.Gly232Arg)
c.629G>A (p.Gly210Glu)
dbSNP gnomAD v2 gnomAD v4
17g.17793642G>CCA398546013RAI1c.694G>C (p.Gly232Arg)
c.629G>C (p.Gly210Ala)
17g.17793642G=CA2250666547RAI1c.694G= (p.Gly232=)
c.629G= (p.Gly210=)
17g.17793642G>TCA398546014RAI1c.694G>T (p.Gly232Trp)
c.629G>T (p.Gly210Val)
17g.17793643G>ACA398546015RAI1c.695G>A (p.Gly232Glu)
c.630G>A (p.Gly210=)
dbSNP gnomAD v2 gnomAD v4
17g.17793643G>CCA398546016RAI1c.695G>C (p.Gly232Ala)
c.630G>C (p.Gly210=)
17g.17793643G=CA2250666552RAI1c.695G= (p.Gly232=)
c.630G= (p.Gly210=)
17g.17793643G>TCA398546017RAI1c.695G>T (p.Gly232Val)
c.630G>T (p.Gly210=)
17g.17793644G>ACA498422626RAI1c.696G>A (p.Gly232=)
c.631G>A (p.Gly211Ser)
17g.17793644G>CCA498422628RAI1c.696G>C (p.Gly232=)
c.631G>C (p.Gly211Arg)
17g.17793644G>TCA498422630RAI1c.696G>T (p.Gly232=)
c.631G>T (p.Gly211Cys)
17g.17793645G>ACA8418171RAI1c.697G>A (p.Ala233Thr)
c.632G>A (p.Gly211Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.17793645G>CCA398546018RAI1c.697G>C (p.Ala233Pro)
c.632G>C (p.Gly211Ala)
gnomAD v4
17g.17793645G=CA2250666560RAI1c.697G= (p.Ala233=)
c.632G= (p.Gly211=)
17g.17793645G>TCA398546019RAI1c.697G>T (p.Ala233Ser)
c.632G>T (p.Gly211Val)
17g.17793645_17793646delinsGCCA2250666558RAI1c.697_698delinsGC (p.Ala233=)
c.632_633delinsGC (p.Gly211=)
17g.17793646C>ACA398546021RAI1c.698C>A (p.Ala233Asp)
c.633C>A (p.Gly211=)
17g.17793646C>GCA398546022RAI1c.698C>G (p.Ala233Gly)
c.633C>G (p.Gly211=)
17g.17793646C>TCA398546020RAI1c.698C>T (p.Ala233Val)
c.633C>T (p.Gly211=)
gnomAD v4
17g.17793648delCA288367202RAI1c.700del (p.His234ThrfsTer18)
c.634del
dbSNP
17g.17793647C>ACA498422632RAI1c.699C>A (p.Ala233=)
c.634-1C>A (n.634-1C>A)
17g.17793647C>GCA498422634RAI1c.699C>G (p.Ala233=)
c.634-1C>G (n.634-1C>G)
17g.17793647C>TCA498422635RAI1c.699C>T (p.Ala233=)
c.634-1C>T (n.634-1C>T)
17g.17793648C>ACA398546025RAI1c.700C>A (p.His234Asn)
c.634C>A (p.His212Asn)
17g.17793648C>GCA398546023RAI1c.700C>G (p.His234Asp)
c.634C>G (p.His212Asp)
gnomAD v4
17g.17793648C>TCA398546024RAI1c.700C>T (p.His234Tyr)
c.634C>T (p.His212Tyr)

Number of alleles fetched