Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.89919709C>ACA286607471MC1Rc.451C>A (p.Arg151Ser)
dbSNP gnomAD v4
16g.89919709C=CA2242009554MC1Rc.451C= (p.Arg151=)
16g.89919709C>GCA286607469MC1Rc.451C>G (p.Arg151Gly)
dbSNP
16g.89919709C>TCA123871MC1Rc.451C>T (p.Arg151Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919710G>ACA8255595MC1Rc.452G>A (p.Arg151His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919710G>CCA397460862MC1Rc.452G>C (p.Arg151Pro)
dbSNP gnomAD v2 gnomAD v4
16g.89919710G=CA2242009555MC1Rc.452G= (p.Arg151=)
16g.89919710G>TCA397460864MC1Rc.452G>T (p.Arg151Leu)
dbSNP gnomAD v2 gnomAD v4
16g.89919711C>ACA497380737MC1Rc.453C>A (p.Arg151=)
gnomAD v4
16g.89919711C=CA2242009556MC1Rc.453C= (p.Arg151=)
16g.89919711C>GCA8255596MC1Rc.453C>G (p.Arg151=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919711C>TCA497380736MC1Rc.453C>T (p.Arg151=)
gnomAD v4
16g.89919712T>ACA397460866MC1Rc.454T>A (p.Tyr152Asn)
16g.89919712T>CCA397460867MC1Rc.454T>C (p.Tyr152His)
16g.89919712T>GCA397460868MC1Rc.454T>G (p.Tyr152Asp)
16g.89919713A=CA2242009557MC1Rc.455A= (p.Tyr152=)
16g.89919713A>CCA397460869MC1Rc.455A>C (p.Tyr152Ser)
dbSNP
16g.89919713A>GCA397460871MC1Rc.455A>G (p.Tyr152Cys)
dbSNP
16g.89919713A>TCA397460873MC1Rc.455A>T (p.Tyr152Phe)
16g.89919714C>ACA8255597MC1Rc.456C>A (p.Tyr152Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89919714C=CA2242009558MC1Rc.456C= (p.Tyr152=)
16g.89919714C>GCA397460875MC1Rc.456C>G (p.Tyr152Ter)
16g.89919714C>TCA497380743MC1Rc.456C>T (p.Tyr152=)
gnomAD v4
16g.89919715C>ACA397460881MC1Rc.457C>A (p.His153Asn)
gnomAD v4
16g.89919715C>GCA397460879MC1Rc.457C>G (p.His153Asp)
16g.89919715C>TCA397460877MC1Rc.457C>T (p.His153Tyr)
gnomAD v4
16g.89919716A>CCA397460883MC1Rc.458A>C (p.His153Pro)
16g.89919716A>GCA397460886MC1Rc.458A>G (p.His153Arg)
16g.89919716A>TCA397460885MC1Rc.458A>T (p.His153Leu)
16g.89919717C>ACA397460887MC1Rc.459C>A (p.His153Gln)
16g.89919717C=CA2242009559MC1Rc.459C= (p.His153=)
16g.89919717C>GCA397460889MC1Rc.459C>G (p.His153Gln)
16g.89919717C>TCA8255598MC1Rc.459C>T (p.His153=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919718A>CCA397460891MC1Rc.460A>C (p.Ser154Arg)
16g.89919718A>GCA397460893MC1Rc.460A>G (p.Ser154Gly)
gnomAD v4
16g.89919718A>TCA397460895MC1Rc.460A>T (p.Ser154Cys)
16g.89919719G>ACA397460896MC1Rc.461G>A (p.Ser154Asn)
16g.89919719G>CCA397460898MC1Rc.461G>C (p.Ser154Thr)
16g.89919719G>TCA397460899MC1Rc.461G>T (p.Ser154Ile)
ClinVar gnomAD v4
16g.89919720C>ACA397460900MC1Rc.462C>A (p.Ser154Arg)
gnomAD v4
16g.89919720C=CA2242009560MC1Rc.462C= (p.Ser154=)
16g.89919720C>GCA397460901MC1Rc.462C>G (p.Ser154Arg)
16g.89919720C>TCA497380757MC1Rc.462C>T (p.Ser154=)
dbSNP
16g.89919721A>CCA397460906MC1Rc.463A>C (p.Ile155Leu)
16g.89919721A>GCA397460903MC1Rc.463A>G (p.Ile155Val)
16g.89919721A>TCA397460905MC1Rc.463A>T (p.Ile155Phe)
16g.89919722T>ACA397460907MC1Rc.464T>A (p.Ile155Asn)
16g.89919722T>CCA8255599MC1Rc.464T>C (p.Ile155Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919722T>GCA397460909MC1Rc.464T>G (p.Ile155Ser)
16g.89919722T=CA2242009561MC1Rc.464T= (p.Ile155=)
16g.89919723C>ACA497380769MC1Rc.465C>A (p.Ile155=)
gnomAD v4
16g.89919723C=CA2242009562MC1Rc.465C= (p.Ile155=)
16g.89919723C>GCA286607472MC1Rc.465C>G (p.Ile155Met)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919723C>TCA8255600MC1Rc.465C>T (p.Ile155=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919724G>ACA8255602MC1Rc.466G>A (p.Val156Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919724G>CCA8255601MC1Rc.466G>C (p.Val156Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919724G=CA2242009563MC1Rc.466G= (p.Val156=)
16g.89919724G>TCA397460912MC1Rc.466G>T (p.Val156Leu)
gnomAD v4
16g.89919725T>ACA397460913MC1Rc.467T>A (p.Val156Glu)
16g.89919725T>CCA8255603MC1Rc.467T>C (p.Val156Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919725T>GCA397460916MC1Rc.467T>G (p.Val156Gly)
16g.89919725T=CA2242009564MC1Rc.467T= (p.Val156=)
16g.89919726G>ACA497380776MC1Rc.468G>A (p.Val156=)
16g.89919726G>CCA497380778MC1Rc.468G>C (p.Val156=)
16g.89919726G=CA2242009565MC1Rc.468G= (p.Val156=)
16g.89919726G>TCA286607473MC1Rc.468G>T (p.Val156=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919727A=CA2242009566MC1Rc.469A= (p.Thr157=)
16g.89919727A>CCA8255604MC1Rc.469A>C (p.Thr157Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919727A>GCA397460921MC1Rc.469A>G (p.Thr157Ala)
dbSNP gnomAD v2
16g.89919727A>TCA397460918MC1Rc.469A>T (p.Thr157Ser)
16g.89919728C>ACA397460923MC1Rc.470C>A (p.Thr157Asn)
gnomAD v4
16g.89919728C=CA2242009567MC1Rc.470C= (p.Thr157=)
16g.89919728C>GCA397460924MC1Rc.470C>G (p.Thr157Ser)
dbSNP
16g.89919728C>TCA123873MC1Rc.470C>T (p.Thr157Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919729C>ACA497380791MC1Rc.471C>A (p.Thr157=)
dbSNP gnomAD v2 gnomAD v4
16g.89919729C=CA2242009568MC1Rc.471C= (p.Thr157=)
16g.89919729C>GCA497380793MC1Rc.471C>G (p.Thr157=)
16g.89919729C>TCA286607474MC1Rc.471C>T (p.Thr157=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919730C>ACA397460925MC1Rc.472C>A (p.Leu158Met)
gnomAD v4
16g.89919730C=CA2242009569MC1Rc.472C= (p.Leu158=)
16g.89919730C>GCA397460928MC1Rc.472C>G (p.Leu158Val)
16g.89919730C>TCA497380797MC1Rc.472C>T (p.Leu158=)
dbSNP gnomAD v2 gnomAD v4
16g.89919731T>ACA397460929MC1Rc.473T>A (p.Leu158Gln)
gnomAD v4
16g.89919731T>CCA397460930MC1Rc.473T>C (p.Leu158Pro)
gnomAD v4
16g.89919731T>GCA397460932MC1Rc.473T>G (p.Leu158Arg)
16g.89919732G>ACA497380798MC1Rc.474G>A (p.Leu158=)
16g.89919732G>CCA8255605MC1Rc.474G>C (p.Leu158=)
dbSNP ExAC gnomAD v2
16g.89919732G=CA2242009570MC1Rc.474G= (p.Leu158=)
16g.89919732G>TCA497380799MC1Rc.474G>T (p.Leu158=)
gnomAD v4
16g.89919733C>ACA123875MC1Rc.475C>A (p.Pro159Thr)
ClinVar dbSNP gnomAD v4
16g.89919733C=CA2242009571MC1Rc.475C= (p.Pro159=)
16g.89919733C>GCA397460936MC1Rc.475C>G (p.Pro159Ala)
16g.89919733C>TCA8255606MC1Rc.475C>T (p.Pro159Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919734C>ACA397460940MC1Rc.476C>A (p.Pro159Gln)
16g.89919734C=CA2242009572MC1Rc.476C= (p.Pro159=)
16g.89919734C>GCA397460942MC1Rc.476C>G (p.Pro159Arg)
16g.89919734C>TCA8255607MC1Rc.476C>T (p.Pro159Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919735G>ACA8255608MC1Rc.477G>A (p.Pro159=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89919735G>CCA497380801MC1Rc.477G>C (p.Pro159=)
16g.89919735G=CA2242009573MC1Rc.477G= (p.Pro159=)
16g.89919735G>TCA497380803MC1Rc.477G>T (p.Pro159=)
gnomAD v4
16g.89919736C>ACA497380805MC1Rc.478C>A (p.Arg160=)
gnomAD v4
16g.89919736C=CA2242009574MC1Rc.478C= (p.Arg160=)
16g.89919736C>GCA397460945MC1Rc.478C>G (p.Arg160Gly)
16g.89919736C>TCA123867MC1Rc.478C>T (p.Arg160Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919737G>ACA8255609MC1Rc.479G>A (p.Arg160Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919737G>CCA397460949MC1Rc.479G>C (p.Arg160Pro)
gnomAD v4
16g.89919737G=CA2242009575MC1Rc.479G= (p.Arg160=)
16g.89919737G>TCA397460951MC1Rc.479G>T (p.Arg160Leu)
gnomAD v4
16g.89919739dupCA2695224047MC1Rc.481dup (p.Ala161GlyfsTer?)
16g.89919738G>ACA8255610MC1Rc.480G>A (p.Arg160=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919738G>CCA497380815MC1Rc.480G>C (p.Arg160=)
16g.89919738G=CA2242009576MC1Rc.480G= (p.Arg160=)
16g.89919738G>TCA286607482MC1Rc.480G>T (p.Arg160=)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89919739G>ACA397460954MC1Rc.481G>A (p.Ala161Thr)
16g.89919739G>CCA397460955MC1Rc.481G>C (p.Ala161Pro)
16g.89919739G>TCA397460957MC1Rc.481G>T (p.Ala161Ser)
gnomAD v4
16g.89919740C>ACA8255611MC1Rc.482C>A (p.Ala161Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919740C=CA2242009577MC1Rc.482C= (p.Ala161=)
16g.89919740C>GCA397461500MC1Rc.482C>G (p.Ala161Gly)
16g.89919740C>TCA8255612MC1Rc.482C>T (p.Ala161Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919740_89919753delinsCGCGGCGAGCCGTTCA2242009578MC1Rc.482_495delinsCGCGGCGAGCCGTT (p.Ala161=)
16g.89919741G>ACA8255613MC1Rc.483G>A (p.Ala161=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919741G>CCA497380334MC1Rc.483G>C (p.Ala161=)
16g.89919741G=CA2242009579MC1Rc.483G= (p.Ala161=)
16g.89919741G>TCA497380336MC1Rc.483G>T (p.Ala161=)
gnomAD v4
16g.89919746_89919758delCA624455294MC1Rc.488_500del (p.Arg163ProfsTer?)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919742C>ACA497380338MC1Rc.484C>A (p.Arg162=)
16g.89919742C=CA2242009580MC1Rc.484C= (p.Arg162=)
16g.89919742C>GCA8255614MC1Rc.484C>G (p.Arg162Gly)
dbSNP ExAC
16g.89919742C>TCA8255615MC1Rc.484C>T (p.Arg162Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919743G>ACA8255616MC1Rc.485G>A (p.Arg162Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919743G>CCA397461510MC1Rc.485G>C (p.Arg162Pro)
16g.89919743G=CA2242009581MC1Rc.485G= (p.Arg162=)
16g.89919743G>TCA397461514MC1Rc.485G>T (p.Arg162Leu)
gnomAD v4
16g.89919745_89919765delCA2635066374MC1Rc.487_507del (p.Arg163_Trp169del)
gnomAD v4
16g.89919744G>ACA497380345MC1Rc.486G>A (p.Arg162=)
dbSNP gnomAD v3 gnomAD v4
16g.89919744G>CCA497380348MC1Rc.486G>C (p.Arg162=)
16g.89919744G=CA2242009582MC1Rc.486G= (p.Arg162=)
16g.89919744G>TCA497380347MC1Rc.486G>T (p.Arg162=)
gnomAD v4
16g.89919745C>ACA497380350MC1Rc.487C>A (p.Arg163=)
gnomAD v4
16g.89919745C=CA2242009583MC1Rc.487C= (p.Arg163=)
16g.89919745C>GCA8255617MC1Rc.487C>G (p.Arg163Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919745C>TCA8255618MC1Rc.487C>T (p.Arg163Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89919745_89919756delinsCGAGCCGTTGCGCA2242009584MC1Rc.487_498delinsCGAGCCGTTGCG (p.Arg163=)
16g.89919746G>ACA8255619MC1Rc.488G>A (p.Arg163Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919746G>CCA397461518MC1Rc.488G>C (p.Arg163Pro)
dbSNP
16g.89919746G=CA2242009586MC1Rc.488G= (p.Arg163=)
16g.89919746G>TCA397461521MC1Rc.488G>T (p.Arg163Leu)
gnomAD v4
16g.89919747_89919757delCA2242009585MC1Rc.489_499del (p.Ala164HisfsTer?)
dbSNP gnomAD v4
16g.89919747A>CCA497380361MC1Rc.489A>C (p.Arg163=)
16g.89919747A>GCA497380362MC1Rc.489A>G (p.Arg163=)
16g.89919747A>TCA497380364MC1Rc.489A>T (p.Arg163=)
16g.89919748G>ACA8255620MC1Rc.490G>A (p.Ala164Thr)
dbSNP ExAC gnomAD v2
16g.89919748G>CCA397461527MC1Rc.490G>C (p.Ala164Pro)
16g.89919748G=CA2242009587MC1Rc.490G= (p.Ala164=)
16g.89919748G>TCA397461524MC1Rc.490G>T (p.Ala164Ser)
gnomAD v4
16g.89919749C>ACA397461529MC1Rc.491C>A (p.Ala164Asp)
gnomAD v4
16g.89919749C>GCA397461531MC1Rc.491C>G (p.Ala164Gly)
ClinVar
16g.89919749C>TCA397461532MC1Rc.491C>T (p.Ala164Val)
gnomAD v4
16g.89919750C>ACA497380378MC1Rc.492C>A (p.Ala164=)
gnomAD v4
16g.89919750C=CA2242009588MC1Rc.492C= (p.Ala164=)
16g.89919750C>GCA497380382MC1Rc.492C>G (p.Ala164=)
gnomAD v4
16g.89919750C>TCA8255621MC1Rc.492C>T (p.Ala164=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919751G>ACA8255622MC1Rc.493G>A (p.Val165Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919751G>CCA397461538MC1Rc.493G>C (p.Val165Leu)
dbSNP
16g.89919751G=CA2242009589MC1Rc.493G= (p.Val165=)
16g.89919751G>TCA397461539MC1Rc.493G>T (p.Val165Phe)
gnomAD v4
16g.89919752T>ACA397461542MC1Rc.494T>A (p.Val165Asp)
16g.89919752T>CCA8255623MC1Rc.494T>C (p.Val165Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919752T>GCA397461547MC1Rc.494T>G (p.Val165Gly)
16g.89919752T=CA2242009590MC1Rc.494T= (p.Val165=)
16g.89919753T>ACA497380410MC1Rc.495T>A (p.Val165=)
gnomAD v4
16g.89919753T>CCA497380412MC1Rc.495T>C (p.Val165=)
dbSNP gnomAD v4 COSMIC
16g.89919753T>GCA497380407MC1Rc.495T>G (p.Val165=)
16g.89919753T=CA2242009591MC1Rc.495T= (p.Val165=)
16g.89919754G>ACA8255625MC1Rc.496G>A (p.Ala166Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919754G>CCA397461553MC1Rc.496G>C (p.Ala166Pro)
16g.89919754G=CA2242009592MC1Rc.496G= (p.Ala166=)
16g.89919754G>TCA286607501MC1Rc.496G>T (p.Ala166Ser)
dbSNP gnomAD v3 gnomAD v4
16g.89919754dupCA8255624MC1Rc.496dup (p.Ala166GlyfsTer?)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89919755delCA2576104016MC1Rc.497del (p.Ala166GlyfsTer?)
16g.89919755C>ACA397461557MC1Rc.497C>A (p.Ala166Glu)
dbSNP gnomAD v4
16g.89919755C=CA2242009593MC1Rc.497C= (p.Ala166=)
16g.89919755C>GCA8255626MC1Rc.497C>G (p.Ala166Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919755C>TCA8255627MC1Rc.497C>T (p.Ala166Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919756G>ACA8255628MC1Rc.498G>A (p.Ala166=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919756G>CCA497380443MC1Rc.498G>C (p.Ala166=)
dbSNP gnomAD v2 gnomAD v4
16g.89919756G=CA2242009594MC1Rc.498G= (p.Ala166=)
16g.89919756G>TCA497380445MC1Rc.498G>T (p.Ala166=)
gnomAD v4
16g.89919757G>ACA397461564MC1Rc.499G>A (p.Ala167Thr)
gnomAD v4 COSMIC
16g.89919757G>CCA397461567MC1Rc.499G>C (p.Ala167Pro)
16g.89919757G>TCA397461569MC1Rc.499G>T (p.Ala167Ser)
gnomAD v4
16g.89919758C>ACA397461572MC1Rc.500C>A (p.Ala167Asp)
dbSNP gnomAD v2 gnomAD v4
16g.89919758C=CA2242009595MC1Rc.500C= (p.Ala167=)
16g.89919758C>GCA397461576MC1Rc.500C>G (p.Ala167Gly)
16g.89919758C>TCA397461574MC1Rc.500C>T (p.Ala167Val)
dbSNP gnomAD v2 gnomAD v4
16g.89919759C>ACA8255629MC1Rc.501C>A (p.Ala167=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919759C=CA2242009596MC1Rc.501C= (p.Ala167=)
16g.89919759C>GCA497380465MC1Rc.501C>G (p.Ala167=)
16g.89919759C>TCA497380466MC1Rc.501C>T (p.Ala167=)
16g.89919760A=CA2242009597MC1Rc.502A= (p.Ile168=)
16g.89919760A>CCA397461580MC1Rc.502A>C (p.Ile168Leu)
gnomAD v4
16g.89919760A>GCA397461586MC1Rc.502A>G (p.Ile168Val)
dbSNP gnomAD v2 gnomAD v4
16g.89919760A>TCA397461588MC1Rc.502A>T (p.Ile168Phe)
16g.89919761T>ACA397461591MC1Rc.503T>A (p.Ile168Asn)
16g.89919761T>CCA397461592MC1Rc.503T>C (p.Ile168Thr)
16g.89919761T>GCA397461594MC1Rc.503T>G (p.Ile168Ser)
16g.89919762C>ACA497380472MC1Rc.504C>A (p.Ile168=)
16g.89919762C=CA2242009598MC1Rc.504C= (p.Ile168=)
16g.89919762C>GCA8255630MC1Rc.504C>G (p.Ile168Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919762C>TCA8255631MC1Rc.504C>T (p.Ile168=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919763T>ACA397461600MC1Rc.505T>A (p.Trp169Arg)
gnomAD v4
16g.89919763T>CCA397461601MC1Rc.505T>C (p.Trp169Arg)
16g.89919763T>GCA397461603MC1Rc.505T>G (p.Trp169Gly)
16g.89919764G>ACA397461607MC1Rc.506G>A (p.Trp169Ter)
ClinVar gnomAD v4
16g.89919764G>CCA397461609MC1Rc.506G>C (p.Trp169Ser)
16g.89919764G>TCA397461605MC1Rc.506G>T (p.Trp169Leu)
gnomAD v4
16g.89919765G>ACA397461611MC1Rc.507G>A (p.Trp169Ter)
16g.89919765G>CCA397461614MC1Rc.507G>C (p.Trp169Cys)
dbSNP
16g.89919765G=CA2242009599MC1Rc.507G= (p.Trp169=)
16g.89919765G>TCA397461616MC1Rc.507G>T (p.Trp169Cys)
gnomAD v4
16g.89919766G>ACA8255632MC1Rc.508G>A (p.Val170Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919766G>CCA397461620MC1Rc.508G>C (p.Val170Leu)
16g.89919766G=CA2242009600MC1Rc.508G= (p.Val170=)
16g.89919766G>TCA397461621MC1Rc.508G>T (p.Val170Leu)
gnomAD v4
16g.89919767T>ACA397461625MC1Rc.509T>A (p.Val170Glu)
16g.89919767T>CCA397461629MC1Rc.509T>C (p.Val170Ala)
gnomAD v4
16g.89919767T>GCA397461627MC1Rc.509T>G (p.Val170Gly)
dbSNP
16g.89919767T=CA2242009601MC1Rc.509T= (p.Val170=)
16g.89919768G>ACA8255633MC1Rc.510G>A (p.Val170=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919768G>CCA497380489MC1Rc.510G>C (p.Val170=)
16g.89919768G=CA2242009602MC1Rc.510G= (p.Val170=)
16g.89919768G>TCA497380490MC1Rc.510G>T (p.Val170=)
gnomAD v4
16g.89919769G>ACA397461634MC1Rc.511G>A (p.Ala171Thr)
gnomAD v4
16g.89919769G>CCA397461637MC1Rc.511G>C (p.Ala171Pro)
16g.89919769G=CA2242009603MC1Rc.511G= (p.Ala171=)
16g.89919769G>TCA286607507MC1Rc.511G>T (p.Ala171Ser)
ClinVar dbSNP gnomAD v4
16g.89919770C>ACA8255635MC1Rc.512C>A (p.Ala171Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919770C=CA2242009604MC1Rc.512C= (p.Ala171=)
16g.89919770C>GCA8255634MC1Rc.512C>G (p.Ala171Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919770C>TCA397461643MC1Rc.512C>T (p.Ala171Val)
dbSNP gnomAD v3 gnomAD v4
16g.89919771C>ACA497380498MC1Rc.513C>A (p.Ala171=)
gnomAD v4
16g.89919771C=CA2242009605MC1Rc.513C= (p.Ala171=)
16g.89919771C>GCA497380499MC1Rc.513C>G (p.Ala171=)
16g.89919771C>TCA8255636MC1Rc.513C>T (p.Ala171=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919772A>CCA397461652MC1Rc.514A>C (p.Ser172Arg)
gnomAD v4
16g.89919772A>GCA397461648MC1Rc.514A>G (p.Ser172Gly)
gnomAD v4
16g.89919772A>TCA397461650MC1Rc.514A>T (p.Ser172Cys)
16g.89919773G>ACA397461654MC1Rc.515G>A (p.Ser172Asn)
dbSNP gnomAD v2
16g.89919773G>CCA397461655MC1Rc.515G>C (p.Ser172Thr)
gnomAD v4
16g.89919773G=CA2242009606MC1Rc.515G= (p.Ser172=)
16g.89919773G>TCA8255637MC1Rc.515G>T (p.Ser172Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919774T>ACA397461659MC1Rc.516T>A (p.Ser172Arg)
gnomAD v4
16g.89919774T>CCA8255639MC1Rc.516T>C (p.Ser172=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919774T>GCA397461662MC1Rc.516T>G (p.Ser172Arg)
16g.89919774T=CA2242009608MC1Rc.516T= (p.Ser172=)
16g.89919774_89919777delinsTGTCCA2242009607MC1Rc.516_519delinsTGTC (p.Ser172=)
16g.89919775G>ACA397461665MC1Rc.517G>A (p.Val173Ile)
16g.89919775G>CCA397461668MC1Rc.517G>C (p.Val173Leu)
16g.89919775G>TCA397461671MC1Rc.517G>T (p.Val173Phe)
gnomAD v4
16g.89919778_89919780delCA8255638MC1Rc.520_522del (p.Val174del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919776delCA2635066520MC1Rc.518del (p.Val173AlafsTer?)
gnomAD v4
16g.89919776T>ACA397461680MC1Rc.518T>A (p.Val173Asp)
16g.89919776T>CCA397461677MC1Rc.518T>C (p.Val173Ala)
16g.89919776T>GCA397461676MC1Rc.518T>G (p.Val173Gly)
16g.89919777C>ACA497380521MC1Rc.519C>A (p.Val173=)
gnomAD v4
16g.89919777C=CA2242009609MC1Rc.519C= (p.Val173=)
16g.89919777C>GCA497380522MC1Rc.519C>G (p.Val173=)
16g.89919777C>TCA8255640MC1Rc.519C>T (p.Val173=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919778G>ACA8255641MC1Rc.520G>A (p.Val174Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919778G>CCA397461683MC1Rc.520G>C (p.Val174Leu)
dbSNP gnomAD v2 gnomAD v4
16g.89919778G=CA2242009610MC1Rc.520G= (p.Val174=)
16g.89919778G>TCA397461685MC1Rc.520G>T (p.Val174Phe)
gnomAD v4
16g.89919779T>ACA397461687MC1Rc.521T>A (p.Val174Asp)
16g.89919779T>CCA397461689MC1Rc.521T>C (p.Val174Ala)
16g.89919779T>GCA397461691MC1Rc.521T>G (p.Val174Gly)
16g.89919780C>ACA497380534MC1Rc.522C>A (p.Val174=)
gnomAD v4
16g.89919780C>GCA497380535MC1Rc.522C>G (p.Val174=)
16g.89919780C>TCA497380536MC1Rc.522C>T (p.Val174=)
gnomAD v4
16g.89919781T>ACA397461693MC1Rc.523T>A (p.Phe175Ile)
16g.89919781T>CCA397461695MC1Rc.523T>C (p.Phe175Leu)
gnomAD v4
16g.89919781T>GCA397461696MC1Rc.523T>G (p.Phe175Val)
16g.89919782dupCA2695224048MC1Rc.524dup (p.Ser176GlnfsTer?)
16g.89919782T>ACA397461700MC1Rc.524T>A (p.Phe175Tyr)
16g.89919782T>CCA397461703MC1Rc.524T>C (p.Phe175Ser)
16g.89919782T>GCA397461704MC1Rc.524T>G (p.Phe175Cys)
16g.89919782_89919785delinsTCAGCA2242009611MC1Rc.524_527delinsTCAG (p.Phe175=)
16g.89919783C>ACA397461708MC1Rc.525C>A (p.Phe175Leu)
16g.89919783C>GCA397461707MC1Rc.525C>G (p.Phe175Leu)
16g.89919783C>TCA497380558MC1Rc.525C>T (p.Phe175=)
gnomAD v4
16g.89919785_89919787delCA919769660MC1Rc.527_529del (p.Ser176del)
dbSNP
16g.89919784A=CA2242009612MC1Rc.526A= (p.Ser176=)
16g.89919784A>CCA397461711MC1Rc.526A>C (p.Ser176Arg)
dbSNP
16g.89919784A>GCA397461713MC1Rc.526A>G (p.Ser176Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919784A>TCA397461714MC1Rc.526A>T (p.Ser176Cys)
16g.89919785G>ACA397461716MC1Rc.527G>A (p.Ser176Asn)
dbSNP gnomAD v4
16g.89919785G>CCA397461717MC1Rc.527G>C (p.Ser176Thr)
dbSNP gnomAD v2 gnomAD v4
16g.89919785G=CA2242009613MC1Rc.527G= (p.Ser176=)
16g.89919785G>TCA397461718MC1Rc.527G>T (p.Ser176Ile)
16g.89919786C>ACA397461720MC1Rc.528C>A (p.Ser176Arg)
16g.89919786C>GCA397461722MC1Rc.528C>G (p.Ser176Arg)
16g.89919786C>TCA497380562MC1Rc.528C>T (p.Ser176=)
gnomAD v4
16g.89919787A=CA2242009614MC1Rc.529A= (p.Thr177=)
16g.89919787A>CCA397461725MC1Rc.529A>C (p.Thr177Pro)
16g.89919787A>GCA8255642MC1Rc.529A>G (p.Thr177Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919787A>TCA397461727MC1Rc.529A>T (p.Thr177Ser)
dbSNP gnomAD v2 gnomAD v4
16g.89919788C>ACA397461738MC1Rc.530C>A (p.Thr177Lys)
dbSNP gnomAD v3 gnomAD v4
16g.89919788C=CA2242009615MC1Rc.530C= (p.Thr177=)
16g.89919788C>GCA397461739MC1Rc.530C>G (p.Thr177Arg)
gnomAD v4
16g.89919788C>TCA8255643MC1Rc.530C>T (p.Thr177Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919789G>ACA8255644MC1Rc.531G>A (p.Thr177=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919789G>CCA497380571MC1Rc.531G>C (p.Thr177=)
16g.89919789G=CA2242009616MC1Rc.531G= (p.Thr177=)
16g.89919789G>TCA497380583MC1Rc.531G>T (p.Thr177=)
gnomAD v4
16g.89919790C>ACA397461744MC1Rc.532C>A (p.Leu178Ile)
16g.89919790C=CA2242009618MC1Rc.532C= (p.Leu178=)
16g.89919790C>GCA397461748MC1Rc.532C>G (p.Leu178Val)
dbSNP gnomAD v2
16g.89919790C>TCA397461746MC1Rc.532C>T (p.Leu178Phe)
16g.89919790_89919791delinsCTCA2242009619MC1Rc.532_533delinsCT (p.Leu178=)
16g.89919790_89919793delinsCTCTCA2242009617MC1Rc.532_535delinsCTCT (p.Leu178=)
16g.89919791delCA2242009620MC1Rc.533del (p.Leu178ProfsTer?)
dbSNP gnomAD v4
16g.89919791T>ACA397461751MC1Rc.533T>A (p.Leu178His)
16g.89919791T>CCA397461753MC1Rc.533T>C (p.Leu178Pro)
16g.89919791T>GCA397461754MC1Rc.533T>G (p.Leu178Arg)
16g.89919793_89919795delCA725761868MC1Rc.535_537del (p.Phe179del)
dbSNP gnomAD v3 gnomAD v4
16g.89919792C>ACA497380588MC1Rc.534C>A (p.Leu178=)
16g.89919792C=CA2242009621MC1Rc.534C= (p.Leu178=)
16g.89919792C>GCA497380590MC1Rc.534C>G (p.Leu178=)
gnomAD v4
16g.89919792C>TCA8255645MC1Rc.534C>T (p.Leu178=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.89919793T>ACA397461755MC1Rc.535T>A (p.Phe179Ile)
16g.89919793T>CCA397461756MC1Rc.535T>C (p.Phe179Leu)
16g.89919793T>GCA397461757MC1Rc.535T>G (p.Phe179Val)
16g.89919793_89919794insCCA286607519MC1Rc.535_536insC (p.Phe179SerfsTer?)
16g.89919794T>ACA397461758MC1Rc.536T>A (p.Phe179Tyr)
16g.89919794T>CCA397461760MC1Rc.536T>C (p.Phe179Ser)
16g.89919794T>GCA397461761MC1Rc.536T>G (p.Phe179Cys)
16g.89919794T=CA2242009622MC1Rc.536T= (p.Phe179=)
16g.89919795C>ACA397461770MC1Rc.537C>A (p.Phe179Leu)
gnomAD v4
16g.89919795C>GCA397461764MC1Rc.537C>G (p.Phe179Leu)
16g.89919795C>TCA497380600MC1Rc.537C>T (p.Phe179=)
gnomAD v4
16g.89919795dupCA8255646MC1Rc.537dup (p.Ile180HisfsTer?)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919796A=CA2242009623MC1Rc.538A= (p.Ile180=)
16g.89919796A>CCA397461772MC1Rc.538A>C (p.Ile180Leu)
16g.89919796A>GCA8255647MC1Rc.538A>G (p.Ile180Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919796A>TCA397461775MC1Rc.538A>T (p.Ile180Phe)
16g.89919797T>ACA397461776MC1Rc.539T>A (p.Ile180Asn)
dbSNP gnomAD v4
16g.89919797T>CCA397461777MC1Rc.539T>C (p.Ile180Thr)
16g.89919797T>GCA397461779MC1Rc.539T>G (p.Ile180Ser)
dbSNP
16g.89919797T=CA2242009624MC1Rc.539T= (p.Ile180=)
16g.89919798C>ACA497380613MC1Rc.540C>A (p.Ile180=)
16g.89919798C=CA2242009625MC1Rc.540C= (p.Ile180=)
16g.89919798C>GCA397461780MC1Rc.540C>G (p.Ile180Met)
16g.89919798C>TCA8255648MC1Rc.540C>T (p.Ile180=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919799G>ACA8255649MC1Rc.541G>A (p.Ala181Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919799G>CCA397461785MC1Rc.541G>C (p.Ala181Pro)
ClinVar
16g.89919799G=CA2242009626MC1Rc.541G= (p.Ala181=)
16g.89919799G>TCA397461784MC1Rc.541G>T (p.Ala181Ser)
gnomAD v4
16g.89919802_89920805delCA916083514MC1Rc.544_*593del (n.[c.544_*593del;Tyr182LeufsTer?])
c.544_*17del
c.544_1098+68del
ClinVar
16g.89919800C>ACA397461788MC1Rc.542C>A (p.Ala181Asp)
16g.89919800C=CA2242009627MC1Rc.542C= (p.Ala181=)
16g.89919800C>GCA286607524MC1Rc.542C>G (p.Ala181Gly)
ClinVar dbSNP
16g.89919800C>TCA397461789MC1Rc.542C>T (p.Ala181Val)
dbSNP gnomAD v3 gnomAD v4
16g.89919801dupCA2635066575MC1Rc.543dup (p.Tyr182LeufsTer?)
gnomAD v4
16g.89919801C>ACA497380620MC1Rc.543C>A (p.Ala181=)
16g.89919801C=CA2242009628MC1Rc.543C= (p.Ala181=)
16g.89919801C>GCA497380622MC1Rc.543C>G (p.Ala181=)
gnomAD v4
16g.89919801C>TCA497380624MC1Rc.543C>T (p.Ala181=)
dbSNP
16g.89919801_89919802insCTCCTGAGGGCCGGCA2635066583MC1Rc.543_544insCTCCTGAGGGCCGG (p.Tyr182LeufsTer?)
gnomAD v4
16g.89919802T>ACA397461790MC1Rc.544T>A (p.Tyr182Asn)
16g.89919802T>CCA397461792MC1Rc.544T>C (p.Tyr182His)
dbSNP gnomAD v2 gnomAD v4
16g.89919802T>GCA397461794MC1Rc.544T>G (p.Tyr182Asp)
16g.89919802T=CA2242009629MC1Rc.544T= (p.Tyr182=)
16g.89919802_89920802delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGACA2242009630MC1Rc.544_*590delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA (n.[c.544_*590delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA;Tyr182=])
c.544_*14delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA
c.544_1098+65delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA
16g.89919802_89919803insCCTGAGGGCCGGTTCTAAGGCTCAGCA2635066586MC1Rc.544_545insCCTGAGGGCCGGTTCTAAGGCTCAG (p.Tyr182SerfsTer2)
gnomAD v4
16g.89919802_89919803insCCTGAGGGCCGGTTCTAAGGCTCAGACTGGGCCA2635066587MC1Rc.544_545insCCTGAGGGCCGGTTCTAAGGCTCAGACTGGGC (p.Tyr182SerfsTer2)
gnomAD v4
16g.89919803A=CA2242009631MC1Rc.545A= (p.Tyr182=)
16g.89919803A>CCA8255650MC1Rc.545A>C (p.Tyr182Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919803A>GCA286607527MC1Rc.545A>G (p.Tyr182Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919803A>TCA397461795MC1Rc.545A>T (p.Tyr182Phe)
gnomAD v4
16g.89919803_89920802delCA658798660MC1Rc.545_*590del (n.[c.545_*590del;Tyr182CysfsTer8])
c.545_*14del
c.545_1098+65del
ClinVar dbSNP
16g.89919804C>ACA397461796MC1Rc.546C>A (p.Tyr182Ter)
16g.89919804C=CA2242009632MC1Rc.546C= (p.Tyr182=)
16g.89919804C>GCA8255652MC1Rc.546C>G (p.Tyr182Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919804C>TCA8255651MC1Rc.546C>T (p.Tyr182=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919805T>ACA397461804MC1Rc.547T>A (p.Tyr183Asn)
16g.89919805T>CCA8255654MC1Rc.547T>C (p.Tyr183His)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919805T>GCA8255653MC1Rc.547T>G (p.Tyr183Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919805T=CA2242009633MC1Rc.547T= (p.Tyr183=)
16g.89919806A=CA2242009634MC1Rc.548A= (p.Tyr183=)
16g.89919806A>CCA397461811MC1Rc.548A>C (p.Tyr183Ser)
16g.89919806A>GCA8255655MC1Rc.548A>G (p.Tyr183Cys)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
16g.89919806A>TCA397461823MC1Rc.548A>T (p.Tyr183Phe)
16g.89919807C>ACA397461825MC1Rc.549C>A (p.Tyr183Ter)
dbSNP gnomAD v2 gnomAD v4
16g.89919807C=CA2242009635MC1Rc.549C= (p.Tyr183=)
16g.89919807C>GCA397461830MC1Rc.549C>G (p.Tyr183Ter)
gnomAD v4
16g.89919807C>TCA8255656MC1Rc.549C>T (p.Tyr183=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89919808G>ACA8255658MC1Rc.550G>A (p.Asp184Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919808G>CCA8255657MC1Rc.550G>C (p.Asp184His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919808G=CA2242009636MC1Rc.550G= (p.Asp184=)
16g.89919808G>TCA397461837MC1Rc.550G>T (p.Asp184Tyr)
dbSNP gnomAD v2 gnomAD v4
16g.89919809A=CA2242009637MC1Rc.551A= (p.Asp184=)
16g.89919809A>CCA397461840MC1Rc.551A>C (p.Asp184Ala)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89919809A>GCA8255659MC1Rc.551A>G (p.Asp184Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919809A>TCA397461856MC1Rc.551A>T (p.Asp184Val)

Number of alleles fetched