Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.20242518G>ACA513693079RTN4Rc.615C>T (p.Asp205=)
c.674C>T
c.872C>T
dbSNP gnomAD v3 gnomAD v4
22g.20242518G>CCA410712432RTN4Rc.615C>G (p.Asp205Glu)
c.674C>G
c.872C>G
22g.20242518G=CA2396269086RTN4Rc.615C= (p.Asp205=)
c.674C=
c.872C=
22g.20242518G>TCA410712431RTN4Rc.615C>A (p.Asp205Glu)
c.674C>A
c.872C>A
gnomAD v4
22g.20242519T>ACA410712433RTN4Rc.614A>T (p.Asp205Val)
c.673A>T
c.871A>T
22g.20242519T>CCA410712434RTN4Rc.614A>G (p.Asp205Gly)
c.673A>G
c.871A>G
22g.20242519T>GCA410712435RTN4Rc.614A>C (p.Asp205Ala)
c.673A>C
c.871A>C
22g.20242520C>ACA410712436RTN4Rc.613G>T (p.Asp205Tyr)
c.672G>T
c.870G>T
22g.20242520C=CA2396269087RTN4Rc.613G= (p.Asp205=)
c.672G=
c.870G=
22g.20242520C>GCA410712437RTN4Rc.613G>C (p.Asp205His)
c.672G>C
c.870G>C
22g.20242520C>TCA10109553RTN4Rc.613G>A (p.Asp205Asn)
c.672G>A
c.870G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20242521G>ACA513693091RTN4Rc.612C>T (p.Leu204=)
c.671C>T
c.869C>T
dbSNP gnomAD v3 gnomAD v4
22g.20242521G>CCA513693092RTN4Rc.612C>G (p.Leu204=)
c.671C>G
c.869C>G
gnomAD v4
22g.20242521G=CA2396269088RTN4Rc.612C= (p.Leu204=)
c.671C=
c.869C=
22g.20242521G>TCA513693093RTN4Rc.612C>A (p.Leu204=)
c.671C>A
c.869C>A
22g.20242522A>CCA410712440RTN4Rc.611T>G (p.Leu204Arg)
c.670T>G
c.868T>G
22g.20242522A>GCA410712438RTN4Rc.611T>C (p.Leu204Pro)
c.670T>C
c.868T>C
22g.20242522A>TCA410712439RTN4Rc.611T>A (p.Leu204His)
c.670T>A
c.868T>A
22g.20242523G>ACA410712441RTN4Rc.610C>T (p.Leu204Phe)
c.669C>T
c.867C>T
22g.20242523G>CCA410712442RTN4Rc.610C>G (p.Leu204Val)
c.669C>G
c.867C>G
22g.20242523G>TCA410712443RTN4Rc.610C>A (p.Leu204Ile)
c.669C>A
c.867C>A
22g.20242524G>ACA513693095RTN4Rc.609C>T (p.Ser203=)
c.668C>T
c.866C>T
22g.20242524G>CCA410712444RTN4Rc.609C>G (p.Ser203Arg)
c.668C>G
c.866C>G
22g.20242524G>TCA410712445RTN4Rc.609C>A (p.Ser203Arg)
c.668C>A
c.866C>A
22g.20242525C>ACA410712446RTN4Rc.608G>T (p.Ser203Ile)
c.667G>T
c.865G>T
dbSNP
22g.20242525C=CA2396269089RTN4Rc.608G= (p.Ser203=)
c.667G=
c.865G=
22g.20242525C>GCA410712448RTN4Rc.608G>C (p.Ser203Thr)
c.667G>C
c.865G>C
22g.20242525C>TCA410712447RTN4Rc.608G>A (p.Ser203Asn)
c.667G>A
c.865G>A
22g.20242526T>ACA410712449RTN4Rc.607A>T (p.Ser203Cys)
c.666A>T
c.864A>T
22g.20242526T>CCA410712450RTN4Rc.607A>G (p.Ser203Gly)
c.666A>G
c.864A>G
gnomAD v4
22g.20242526T>GCA410712451RTN4Rc.607A>C (p.Ser203Arg)
c.666A>C
c.864A>C
22g.20242527G>ACA513693100RTN4Rc.606C>T (p.His202=)
c.665C>T
c.863C>T
22g.20242527G>CCA410712452RTN4Rc.606C>G (p.His202Gln)
c.665C>G
c.863C>G
22g.20242527G>TCA410712453RTN4Rc.606C>A (p.His202Gln)
c.665C>A
c.863C>A
22g.20242528T>ACA10109554RTN4Rc.605A>T (p.His202Leu)
c.664A>T
c.862A>T
dbSNP ExAC gnomAD v2 gnomAD v4
22g.20242528T>CCA410712454RTN4Rc.605A>G (p.His202Arg)
c.664A>G
c.862A>G
22g.20242528T>GCA410712455RTN4Rc.605A>C (p.His202Pro)
c.664A>C
c.862A>C
22g.20242528T=CA2396269090RTN4Rc.605A= (p.His202=)
c.664A=
c.862A=
22g.20242529G>ACA410712456RTN4Rc.604C>T (p.His202Tyr)
c.663C>T
c.861C>T
22g.20242529G>CCA410712457RTN4Rc.604C>G (p.His202Asp)
c.663C>G
c.861C>G
22g.20242529G>TCA410712458RTN4Rc.604C>A (p.His202Asn)
c.663C>A
c.861C>A
22g.20242530C>ACA513693114RTN4Rc.603G>T (p.Leu201=)
c.662G>T
c.860G>T
22g.20242530C>GCA513693112RTN4Rc.603G>C (p.Leu201=)
c.662G>C
c.860G>C
22g.20242530C>TCA513693113RTN4Rc.603G>A (p.Leu201=)
c.662G>A
c.860G>A
22g.20242531A>CCA410712461RTN4Rc.602T>G (p.Leu201Arg)
c.661T>G
c.859T>G
22g.20242531A>GCA410712460RTN4Rc.602T>C (p.Leu201Pro)
c.661T>C
c.859T>C
22g.20242531A>TCA410712459RTN4Rc.602T>A (p.Leu201Gln)
c.661T>A
c.859T>A
22g.20242532G>ACA513693118RTN4Rc.601C>T (p.Leu201=)
c.660C>T
c.858C>T
22g.20242532G>CCA410712462RTN4Rc.601C>G (p.Leu201Val)
c.660C>G
c.858C>G
22g.20242532G>TCA410712463RTN4Rc.601C>A (p.Leu201Met)
c.660C>A
c.858C>A
22g.20242533C>ACA513693125RTN4Rc.600G>T (p.Gly200=)
c.659G>T
c.857G>T
22g.20242533C=CA2396269091RTN4Rc.600G= (p.Gly200=)
c.659G=
c.857G=
22g.20242533C>GCA513693123RTN4Rc.600G>C (p.Gly200=)
c.659G>C
c.857G>C
dbSNP
22g.20242533C>TCA513693121RTN4Rc.600G>A (p.Gly200=)
c.659G>A
c.857G>A
22g.20242534C>ACA410712464RTN4Rc.599G>T (p.Gly200Val)
c.658G>T
c.856G>T
COSMIC
22g.20242534C>GCA410712465RTN4Rc.599G>C (p.Gly200Ala)
c.658G>C
c.856G>C
22g.20242534C>TCA410712466RTN4Rc.599G>A (p.Gly200Glu)
c.658G>A
c.856G>A
22g.20242535C>ACA410712467RTN4Rc.598G>T (p.Gly200Trp)
c.657G>T
c.855G>T
22g.20242535C>GCA410712468RTN4Rc.598G>C (p.Gly200Arg)
c.657G>C
c.855G>C
22g.20242535C>TCA410712469RTN4Rc.598G>A (p.Gly200Arg)
c.657G>A
c.855G>A
22g.20242536A>CCA513693128RTN4Rc.597T>G (p.Arg199=)
c.656T>G
c.854T>G
22g.20242536A>GCA513693129RTN4Rc.597T>C (p.Arg199=)
c.656T>C
c.854T>C
gnomAD v4
22g.20242536A>TCA513693130RTN4Rc.597T>A (p.Arg199=)
c.656T>A
c.854T>A
22g.20242537C>ACA410712470RTN4Rc.596G>T (p.Arg199Leu)
c.655G>T
c.853G>T
22g.20242537C=CA2396269092RTN4Rc.596G= (p.Arg199=)
c.655G=
c.853G=
22g.20242537C>GCA410712471RTN4Rc.596G>C (p.Arg199Pro)
c.655G>C
c.853G>C
gnomAD v4
22g.20242537C>TCA410712472RTN4Rc.596G>A (p.Arg199His)
c.655G>A
c.853G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.20242538G>ACA10109555RTN4Rc.595C>T (p.Arg199Cys)
c.654C>T
c.852C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.20242538G>CCA410712473RTN4Rc.595C>G (p.Arg199Gly)
c.654C>G
c.852C>G
22g.20242538G=CA2396269093RTN4Rc.595C= (p.Arg199=)
c.654C=
c.852C=
22g.20242538G>TCA410712474RTN4Rc.595C>A (p.Arg199Ser)
c.654C>A
c.852C>A
22g.20242539G>ACA513693138RTN4Rc.594C>T (p.Phe198=)
c.653C>T
c.851C>T
gnomAD v4
22g.20242539G>CCA410712476RTN4Rc.594C>G (p.Phe198Leu)
c.653C>G
c.851C>G
22g.20242539G>TCA410712475RTN4Rc.594C>A (p.Phe198Leu)
c.653C>A
c.851C>A
22g.20242540A>CCA410712477RTN4Rc.593T>G (p.Phe198Cys)
c.652T>G
c.850T>G
22g.20242540A>GCA410712478RTN4Rc.593T>C (p.Phe198Ser)
c.652T>C
c.850T>C
22g.20242540A>TCA410712479RTN4Rc.593T>A (p.Phe198Tyr)
c.652T>A
c.850T>A
22g.20242541A>CCA410712480RTN4Rc.592T>G (p.Phe198Val)
c.651T>G
c.849T>G
22g.20242541A>GCA410712481RTN4Rc.592T>C (p.Phe198Leu)
c.651T>C
c.849T>C
22g.20242541A>TCA410712482RTN4Rc.592T>A (p.Phe198Ile)
c.651T>A
c.849T>A
22g.20242542G>ACA10109556RTN4Rc.591C>T (p.Ala197=)
c.650C>T
c.848C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20242542G>CCA513693143RTN4Rc.591C>G (p.Ala197=)
c.650C>G
c.848C>G
22g.20242542G=CA2396269094RTN4Rc.591C= (p.Ala197=)
c.650C=
c.848C=
22g.20242542G>TCA513693144RTN4Rc.591C>A (p.Ala197=)
c.650C>A
c.848C>A
dbSNP gnomAD v4
22g.20242543G>ACA410712483RTN4Rc.590C>T (p.Ala197Val)
c.649C>T
c.847C>T
22g.20242543G>CCA410712485RTN4Rc.590C>G (p.Ala197Gly)
c.649C>G
c.847C>G
22g.20242543G>TCA410712484RTN4Rc.590C>A (p.Ala197Asp)
c.649C>A
c.847C>A
gnomAD v4
22g.20242544C>ACA410712486RTN4Rc.589G>T (p.Ala197Ser)
c.648G>T
c.846G>T
22g.20242544C=CA2396269095RTN4Rc.589G= (p.Ala197=)
c.648G=
c.846G=
22g.20242544C>GCA410712487RTN4Rc.589G>C (p.Ala197Pro)
c.648G>C
c.846G>C
22g.20242544C>TCA10109557RTN4Rc.589G>A (p.Ala197Thr)
c.648G>A
c.846G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20242545G>ACA10109558RTN4Rc.588C>T (p.Arg196=)
c.647C>T
c.845C>T
dbSNP ExAC gnomAD v2 gnomAD v4
22g.20242545G>CCA513693152RTN4Rc.588C>G (p.Arg196=)
c.647C>G
c.845C>G
22g.20242545G=CA2396269096RTN4Rc.588C= (p.Arg196=)
c.647C=
c.845C=
22g.20242545G>TCA513693154RTN4Rc.588C>A (p.Arg196=)
c.647C>A
c.845C>A
22g.20242546C>ACA410712488RTN4Rc.587G>T (p.Arg196Leu)
c.646G>T
c.844G>T
22g.20242546C=CA2396269097RTN4Rc.587G= (p.Arg196=)
c.646G=
c.844G=
22g.20242546C>GCA410712489RTN4Rc.587G>C (p.Arg196Pro)
c.646G>C
c.844G>C
22g.20242546C>TCA117120RTN4Rc.587G>A (p.Arg196His)
c.646G>A
c.844G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.20242547G>ACA10109559RTN4Rc.586C>T (p.Arg196Cys)
c.645C>T
c.843C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20242547G>CCA410712490RTN4Rc.586C>G (p.Arg196Gly)
c.645C>G
c.843C>G
22g.20242547G=CA2396269098RTN4Rc.586C= (p.Arg196=)
c.645C=
c.843C=
22g.20242547G>TCA410712491RTN4Rc.586C>A (p.Arg196Ser)
c.645C>A
c.843C>A
22g.20242548C>ACA410712492RTN4Rc.585G>T (p.Glu195Asp)
c.644G>T
c.842G>T
22g.20242548C>GCA410712493RTN4Rc.585G>C (p.Glu195Asp)
c.644G>C
c.842G>C
22g.20242548C>TCA513693166RTN4Rc.585G>A (p.Glu195=)
c.644G>A
c.842G>A
22g.20242549T>ACA410712494RTN4Rc.584A>T (p.Glu195Val)
c.643A>T
c.841A>T
22g.20242549T>CCA410712495RTN4Rc.584A>G (p.Glu195Gly)
c.643A>G
c.841A>G
22g.20242549T>GCA410712496RTN4Rc.584A>C (p.Glu195Ala)
c.643A>C
c.841A>C
gnomAD v4
22g.20242550C>ACA410712497RTN4Rc.583G>T (p.Glu195Ter)
c.642G>T
c.840G>T
22g.20242550C=CA2396269099RTN4Rc.583G= (p.Glu195=)
c.642G=
c.840G=
22g.20242550C>GCA410712498RTN4Rc.583G>C (p.Glu195Gln)
c.642G>C
c.840G>C
22g.20242550C>TCA10109560RTN4Rc.583G>A (p.Glu195Lys)
c.642G>A
c.840G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20242551G>ACA10109561RTN4Rc.582C>T (p.Pro194=)
c.641C>T
c.839C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.20242551G>CCA513693169RTN4Rc.582C>G (p.Pro194=)
c.641C>G
c.839C>G
22g.20242551G=CA2396269100RTN4Rc.582C= (p.Pro194=)
c.641C=
c.839C=
22g.20242551G>TCA513693171RTN4Rc.582C>A (p.Pro194=)
c.641C>A
c.839C>A
22g.20242552G>ACA410712501RTN4Rc.581C>T (p.Pro194Leu)
c.640C>T
c.838C>T
22g.20242552G>CCA410712500RTN4Rc.581C>G (p.Pro194Arg)
c.640C>G
c.838C>G
22g.20242552G>TCA410712499RTN4Rc.581C>A (p.Pro194His)
c.640C>A
c.838C>A
22g.20242553G>ACA410712502RTN4Rc.580C>T (p.Pro194Ser)
c.639C>T
c.837C>T
dbSNP gnomAD v2 gnomAD v4
22g.20242553G>CCA410712503RTN4Rc.580C>G (p.Pro194Ala)
c.639C>G
c.837C>G
22g.20242553G=CA2396269101RTN4Rc.580C= (p.Pro194=)
c.639C=
c.837C=
22g.20242553G>TCA410712504RTN4Rc.580C>A (p.Pro194Thr)
c.639C>A
c.837C>A
22g.20242554C>ACA513693178RTN4Rc.579G>T (p.Val193=)
c.638G>T
c.836G>T
22g.20242554C>GCA513693177RTN4Rc.579G>C (p.Val193=)
c.638G>C
c.836G>C
22g.20242554C>TCA513693175RTN4Rc.579G>A (p.Val193=)
c.638G>A
c.836G>A
22g.20242555A>CCA410712505RTN4Rc.578T>G (p.Val193Gly)
c.637T>G
c.835T>G
22g.20242555A>GCA410712506RTN4Rc.578T>C (p.Val193Ala)
c.637T>C
c.835T>C
22g.20242555A>TCA410712507RTN4Rc.578T>A (p.Val193Glu)
c.637T>A
c.835T>A
22g.20242556C>ACA410712508RTN4Rc.577G>T (p.Val193Leu)
c.636G>T
c.834G>T
22g.20242556C=CA2396269102RTN4Rc.577G= (p.Val193=)
c.636G=
c.834G=
22g.20242556C>GCA410712509RTN4Rc.577G>C (p.Val193Leu)
c.636G>C
c.834G>C
22g.20242556C>TCA410712510RTN4Rc.577G>A (p.Val193Met)
c.636G>A
c.834G>A
dbSNP gnomAD v2 gnomAD v4
22g.20242557G>ACA10109562RTN4Rc.576C>T (p.Ser192=)
c.635C>T
c.833C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20242557G>CCA410712511RTN4Rc.576C>G (p.Ser192Arg)
c.635C>G
c.833C>G
22g.20242557G=CA2396269103RTN4Rc.576C= (p.Ser192=)
c.635C=
c.833C=
22g.20242557G>TCA410712512RTN4Rc.576C>A (p.Ser192Arg)
c.635C>A
c.833C>A
gnomAD v4
22g.20242558C>ACA410712513RTN4Rc.575G>T (p.Ser192Ile)
c.634G>T
c.832G>T
22g.20242558C=CA2396269104RTN4Rc.575G= (p.Ser192=)
c.634G=
c.832G=
22g.20242558C>GCA410712515RTN4Rc.575G>C (p.Ser192Thr)
c.634G>C
c.832G>C
22g.20242558C>TCA410712514RTN4Rc.575G>A (p.Ser192Asn)
c.634G>A
c.832G>A
dbSNP gnomAD v2
22g.20242559T>ACA410712516RTN4Rc.574A>T (p.Ser192Cys)
c.633A>T
c.831A>T
gnomAD v4
22g.20242559T>CCA10109563RTN4Rc.574A>G (p.Ser192Gly)
c.633A>G
c.831A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20242559T>GCA410712517RTN4Rc.574A>C (p.Ser192Arg)
c.633A>C
c.831A>C
22g.20242559T=CA2396269105RTN4Rc.574A= (p.Ser192=)
c.633A=
c.831A=
22g.20242560G>ACA513693199RTN4Rc.573C>T (p.Ser191=)
c.632C>T
c.830C>T
22g.20242560G>CCA513693200RTN4Rc.573C>G (p.Ser191=)
c.632C>G
c.830C>G
22g.20242560G>TCA513693202RTN4Rc.573C>A (p.Ser191=)
c.632C>A
c.830C>A
22g.20242561G>ACA410712518RTN4Rc.572C>T (p.Ser191Phe)
c.631C>T
c.829C>T
22g.20242561G>CCA410712520RTN4Rc.572C>G (p.Ser191Cys)
c.631C>G
c.829C>G
22g.20242561G>TCA410712519RTN4Rc.572C>A (p.Ser191Tyr)
c.631C>A
c.829C>A
22g.20242562A=CA2396269106RTN4Rc.571T= (p.Ser191=)
c.630T=
c.828T=
22g.20242562A>CCA322183663RTN4Rc.571T>G (p.Ser191Ala)
c.630T>G
c.828T>G
dbSNP
22g.20242562A>GCA410712522RTN4Rc.571T>C (p.Ser191Pro)
c.630T>C
c.828T>C
22g.20242562A>TCA410712521RTN4Rc.571T>A (p.Ser191Thr)
c.630T>A
c.828T>A
22g.20242563G>ACA513693208RTN4Rc.570C>T (p.Ile190=)
c.629C>T
c.827C>T
22g.20242563G>CCA410712523RTN4Rc.570C>G (p.Ile190Met)
c.629C>G
c.827C>G
22g.20242563G>TCA513693209RTN4Rc.570C>A (p.Ile190=)
c.629C>A
c.827C>A
22g.20242564A>CCA410712524RTN4Rc.569T>G (p.Ile190Ser)
c.628T>G
c.826T>G
22g.20242564A>GCA410712525RTN4Rc.569T>C (p.Ile190Thr)
c.628T>C
c.826T>C
22g.20242564A>TCA410712526RTN4Rc.569T>A (p.Ile190Asn)
c.628T>A
c.826T>A
22g.20242565T>ACA410712527RTN4Rc.568A>T (p.Ile190Phe)
c.627A>T
c.825A>T
22g.20242565T>CCA410712528RTN4Rc.568A>G (p.Ile190Val)
c.627A>G
c.825A>G
gnomAD v4
22g.20242565T>GCA410712529RTN4Rc.568A>C (p.Ile190Leu)
c.627A>C
c.825A>C
22g.20242566G>ACA513693214RTN4Rc.567C>T (p.Arg189=)
c.626C>T
c.824C>T
22g.20242566G>CCA513693216RTN4Rc.567C>G (p.Arg189=)
c.626C>G
c.824C>G
22g.20242566G>TCA513693217RTN4Rc.567C>A (p.Arg189=)
c.626C>A
c.824C>A
22g.20242567C>ACA410712530RTN4Rc.566G>T (p.Arg189Leu)
c.625G>T
c.823G>T
COSMIC
22g.20242567C>GCA410712531RTN4Rc.566G>C (p.Arg189Pro)
c.625G>C
c.823G>C
22g.20242567C>TCA410712532RTN4Rc.566G>A (p.Arg189His)
c.625G>A
c.823G>A
gnomAD v4 COSMIC
22g.20242568G>ACA10109564RTN4Rc.565C>T (p.Arg189Cys)
c.624C>T
c.822C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20242568G>CCA410712534RTN4Rc.565C>G (p.Arg189Gly)
c.624C>G
c.822C>G
gnomAD v4
22g.20242568G=CA2396269107RTN4Rc.565C= (p.Arg189=)
c.624C=
c.822C=
22g.20242568G>TCA410712533RTN4Rc.565C>A (p.Arg189Ser)
c.624C>A
c.822C>A
gnomAD v4
22g.20242569G>ACA513693222RTN4Rc.564C>T (p.Asn188=)
c.623C>T
c.821C>T
dbSNP
22g.20242569G>CCA410712535RTN4Rc.564C>G (p.Asn188Lys)
c.623C>G
c.821C>G
22g.20242569G=CA2396269108RTN4Rc.564C= (p.Asn188=)
c.623C=
c.821C=
22g.20242569G>TCA410712536RTN4Rc.564C>A (p.Asn188Lys)
c.623C>A
c.821C>A
22g.20242570T>ACA410712537RTN4Rc.563A>T (p.Asn188Ile)
c.622A>T
c.820A>T
22g.20242570T>CCA410712538RTN4Rc.563A>G (p.Asn188Ser)
c.622A>G
c.820A>G
22g.20242570T>GCA410712539RTN4Rc.563A>C (p.Asn188Thr)
c.622A>C
c.820A>C
22g.20242571T>ACA410712540RTN4Rc.562A>T (p.Asn188Tyr)
c.621A>T
c.819A>T
22g.20242571T>CCA410712541RTN4Rc.562A>G (p.Asn188Asp)
c.621A>G
c.819A>G
22g.20242571T>GCA410712542RTN4Rc.562A>C (p.Asn188His)
c.621A>C
c.819A>C
22g.20242572G>ACA513693237RTN4Rc.561C>T (p.Gly187=)
c.620C>T
c.818C>T
22g.20242572G>CCA513693231RTN4Rc.561C>G (p.Gly187=)
c.620C>G
c.818C>G
22g.20242572G>TCA513693229RTN4Rc.561C>A (p.Gly187=)
c.620C>A
c.818C>A
COSMIC
22g.20242573C>ACA410712544RTN4Rc.560G>T (p.Gly187Val)
c.619G>T
c.817G>T
22g.20242573C>GCA410712545RTN4Rc.560G>C (p.Gly187Ala)
c.619G>C
c.817G>C
22g.20242573C>TCA410712547RTN4Rc.560G>A (p.Gly187Asp)
c.619G>A
c.817G>A
gnomAD v4
22g.20242574C>ACA410712550RTN4Rc.559G>T (p.Gly187Cys)
c.618G>T
c.816G>T
22g.20242574C=CA2396269109RTN4Rc.559G= (p.Gly187=)
c.618G=
c.816G=
22g.20242574C>GCA410712549RTN4Rc.559G>C (p.Gly187Arg)
c.618G>C
c.816G>C
22g.20242574C>TCA10109565RTN4Rc.559G>A (p.Gly187Ser)
c.618G>A
c.816G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20242575G>ACA10109566RTN4Rc.558C>T (p.His186=)
c.617C>T
c.815C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20242575G>CCA410712553RTN4Rc.558C>G (p.His186Gln)
c.617C>G
c.815C>G
22g.20242575G=CA2396269110RTN4Rc.558C= (p.His186=)
c.617C=
c.815C=
22g.20242575G>TCA410712554RTN4Rc.558C>A (p.His186Gln)
c.617C>A
c.815C>A
22g.20242576T>ACA410712556RTN4Rc.557A>T (p.His186Leu)
c.616A>T
c.814A>T
22g.20242576T>CCA410712558RTN4Rc.557A>G (p.His186Arg)
c.616A>G
c.814A>G
gnomAD v4
22g.20242576T>GCA410712559RTN4Rc.557A>C (p.His186Pro)
c.616A>C
c.814A>C
22g.20242577G>ACA410712561RTN4Rc.556C>T (p.His186Tyr)
c.615C>T
c.813C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
22g.20242577G>CCA410712562RTN4Rc.556C>G (p.His186Asp)
c.615C>G
c.813C>G
22g.20242577G=CA2396269111RTN4Rc.556C= (p.His186=)
c.615C=
c.813C=
22g.20242577G>TCA410712564RTN4Rc.556C>A (p.His186Asn)
c.615C>A
c.813C>A
22g.20242578C>ACA513693256RTN4Rc.555G>T (p.Leu185=)
c.614G>T
c.812G>T
dbSNP gnomAD v3 gnomAD v4
22g.20242578C=CA2396269112RTN4Rc.555G= (p.Leu185=)
c.614G=
c.812G=
22g.20242578C>GCA513693258RTN4Rc.555G>C (p.Leu185=)
c.614G>C
c.812G>C
22g.20242578C>TCA513693259RTN4Rc.555G>A (p.Leu185=)
c.614G>A
c.812G>A
22g.20242579A>CCA410712566RTN4Rc.554T>G (p.Leu185Arg)
c.613T>G
c.811T>G
22g.20242579A>GCA410712567RTN4Rc.554T>C (p.Leu185Pro)
c.613T>C
c.811T>C
22g.20242579A>TCA410712568RTN4Rc.554T>A (p.Leu185Gln)
c.613T>A
c.811T>A
22g.20242580G>ACA10109567RTN4Rc.553C>T (p.Leu185=)
c.612C>T
c.810C>T
dbSNP ExAC gnomAD v2 gnomAD v4
22g.20242580G>CCA410712570RTN4Rc.553C>G (p.Leu185Val)
c.612C>G
c.810C>G
22g.20242580G=CA2396269113RTN4Rc.553C= (p.Leu185=)
c.612C=
c.810C=
22g.20242580G>TCA410712572RTN4Rc.553C>A (p.Leu185Met)
c.612C>A
c.810C>A
22g.20242581G>ACA513693271RTN4Rc.552C>T (p.Phe184=)
c.611C>T
c.809C>T
dbSNP gnomAD v4 COSMIC
22g.20242581G>CCA410712573RTN4Rc.552C>G (p.Phe184Leu)
c.611C>G
c.809C>G
22g.20242581G=CA2396269114RTN4Rc.552C= (p.Phe184=)
c.611C=
c.809C=
22g.20242581G>TCA410712575RTN4Rc.552C>A (p.Phe184Leu)
c.611C>A
c.809C>A
22g.20242582A>CCA410712577RTN4Rc.551T>G (p.Phe184Cys)
c.610T>G
c.808T>G
22g.20242582A>GCA410712579RTN4Rc.551T>C (p.Phe184Ser)
c.610T>C
c.808T>C
22g.20242582A>TCA410712580RTN4Rc.551T>A (p.Phe184Tyr)
c.610T>A
c.808T>A
22g.20242583A=CA2396269115RTN4Rc.550T= (p.Phe184=)
c.609T=
c.807T=
22g.20242583A>CCA410712582RTN4Rc.550T>G (p.Phe184Val)
c.609T>G
c.807T>G
gnomAD v4
22g.20242583A>GCA410712583RTN4Rc.550T>C (p.Phe184Leu)
c.609T>C
c.807T>C
dbSNP
22g.20242583A>TCA410712585RTN4Rc.550T>A (p.Phe184Ile)
c.609T>A
c.807T>A
22g.20242584G>ACA513693283RTN4Rc.549C>T (p.Leu183=)
c.608C>T
c.806C>T
22g.20242584G>CCA513693284RTN4Rc.549C>G (p.Leu183=)
c.608C>G
c.806C>G
dbSNP gnomAD v2 gnomAD v4
22g.20242584G=CA2396269116RTN4Rc.549C= (p.Leu183=)
c.608C=
c.806C=
22g.20242584G>TCA513693286RTN4Rc.549C>A (p.Leu183=)
c.608C>A
c.806C>A
22g.20242585A>CCA410712586RTN4Rc.548T>G (p.Leu183Arg)
c.607T>G
c.805T>G
22g.20242585A>GCA410712587RTN4Rc.548T>C (p.Leu183Pro)
c.607T>C
c.805T>C
22g.20242585A>TCA410712588RTN4Rc.548T>A (p.Leu183His)
c.607T>A
c.805T>A
22g.20242585_20242586insTGCCA638940298RTN4Rc.547_548insGCA (p.Leu183delinsArgIle)
c.606_607insGCA
c.804_805insGCA
gnomAD v2 gnomAD v3 gnomAD v4
22g.20242585_20242586insTGCGCTCA638940299RTN4Rc.547_548insAGCGCA (p.Leu183delinsGlnArgIle)
c.606_607insAGCGCA
c.804_805insAGCGCA
gnomAD v2 gnomAD v3 gnomAD v4
22g.20242585_20242586insTGCGCTGGCTCA1024191231RTN4Rc.547_548insAGCCAGCGCA (p.Leu183GlnfsTer?)
c.606_607insAGCCAGCGCA
c.804_805insAGCCAGCGCA
gnomAD v3 gnomAD v4
22g.20242585_20242586insTGCGCTGGCTGGCAGCAGCA2589506135RTN4Rc.547_548insCTGCTGCCAGCCAGCGCA (p.Leu183delinsProAlaAlaSerGlnArgIle)
c.606_607insCTGCTGCCAGCCAGCGCA
c.804_805insCTGCTGCCAGCCAGCGCA
gnomAD v3 gnomAD v4
22g.20242585_20242586insTGCGCTGGCTGGCAGCAGGGATGCCCACCA1024191228RTN4Rc.547_548insGTGGGCATCCCTGCTGCCAGCCAGCGCA (p.Leu183ArgfsTer?)
c.606_607insGTGGGCATCCCTGCTGCCAGCCAGCGCA
c.804_805insGTGGGCATCCCTGCTGCCAGCCAGCGCA
gnomAD v3 gnomAD v4
22g.20242586G>ACA410712590RTN4Rc.547C>T (p.Leu183Phe)
c.606C>T
c.804C>T
gnomAD v4
22g.20242586G>CCA410712591RTN4Rc.547C>G (p.Leu183Val)
c.606C>G
c.804C>G
22g.20242586G>TCA410712589RTN4Rc.547C>A (p.Leu183Ile)
c.606C>A
c.804C>A
gnomAD v3 gnomAD v4
22g.20242586_20242591delCA1024191222RTN4Rc.542_547del (p.Thr181_Leu183delinsIle)
c.601_606del
c.799_804del
gnomAD v3 gnomAD v4
22g.20242587G>ACA513693293RTN4Rc.546C>T (p.His182=)
c.605C>T
c.803C>T
gnomAD v4
22g.20242587G>CCA410712593RTN4Rc.546C>G (p.His182Gln)
c.605C>G
c.803C>G
gnomAD v2 gnomAD v3 gnomAD v4
22g.20242587G=CA2396269117RTN4Rc.546C= (p.His182=)
c.605C=
c.803C=
22g.20242587G>TCA410712592RTN4Rc.546C>A (p.His182Gln)
c.605C>A
c.803C>A
22g.20242587_20242588insCCA751515469RTN4Rc.545_546insG (p.His182GlnfsTer?)
c.604_605insG
c.802_803insG
dbSNP gnomAD v3 gnomAD v4
22g.20242587_20242588insCTGGCAGCAGGGACA638940300RTN4Rc.545_546insTCCCTGCTGCCAG (p.Leu183ProfsTer?)
c.604_605insTCCCTGCTGCCAG
c.802_803insTCCCTGCTGCCAG
gnomAD v2 gnomAD v3 gnomAD v4
22g.20242588T>ACA410712594RTN4Rc.545A>T (p.His182Leu)
c.604A>T
c.802A>T
22g.20242588T>CCA410712595RTN4Rc.545A>G (p.His182Arg)
c.604A>G
c.802A>G
gnomAD v3 gnomAD v4
22g.20242588T>GCA410712596RTN4Rc.545A>C (p.His182Pro)
c.604A>C
c.802A>C
22g.20242589G>ACA410712597RTN4Rc.544C>T (p.His182Tyr)
c.603C>T
c.801C>T
22g.20242589G>CCA410712598RTN4Rc.544C>G (p.His182Asp)
c.603C>G
c.801C>G
22g.20242589G>TCA410712599RTN4Rc.544C>A (p.His182Asn)
c.603C>A
c.801C>A
22g.20242590T>ACA513693305RTN4Rc.543A>T (p.Thr181=)
c.602A>T
c.800A>T
22g.20242590T>CCA513693307RTN4Rc.543A>G (p.Thr181=)
c.602A>G
c.800A>G
dbSNP gnomAD v4
22g.20242590T>GCA513693309RTN4Rc.543A>C (p.Thr181=)
c.602A>C
c.800A>C
dbSNP gnomAD v2 gnomAD v4
22g.20242590T=CA2396269118RTN4Rc.543A= (p.Thr181=)
c.602A=
c.800A=
22g.20242591G>ACA410712600RTN4Rc.542C>T (p.Thr181Ile)
c.601C>T
c.799C>T
gnomAD v4
22g.20242591G>CCA410712601RTN4Rc.542C>G (p.Thr181Arg)
c.601C>G
c.799C>G
22g.20242591G>TCA410712602RTN4Rc.542C>A (p.Thr181Lys)
c.601C>A
c.799C>A
22g.20242592T>ACA410712603RTN4Rc.541A>T (p.Thr181Ser)
c.600A>T
c.798A>T
22g.20242592T>CCA410712604RTN4Rc.541A>G (p.Thr181Ala)
c.600A>G
c.798A>G
22g.20242592T>GCA410712605RTN4Rc.541A>C (p.Thr181Pro)
c.600A>C
c.798A>C
gnomAD v4
22g.20242593G>ACA513693316RTN4Rc.540C>T (p.Leu180=)
c.599C>T
c.797C>T
gnomAD v4
22g.20242593G>CCA513693313RTN4Rc.540C>G (p.Leu180=)
c.599C>G
c.797C>G
22g.20242593G>TCA513693315RTN4Rc.540C>A (p.Leu180=)
c.599C>A
c.797C>A
22g.20242594A>CCA410712608RTN4Rc.539T>G (p.Leu180Arg)
c.598T>G
c.796T>G
gnomAD v3 gnomAD v4
22g.20242594A>GCA410712606RTN4Rc.539T>C (p.Leu180Pro)
c.598T>C
c.796T>C
22g.20242594A>TCA410712607RTN4Rc.539T>A (p.Leu180His)
c.598T>A
c.796T>A
22g.20242595G>ACA410712609RTN4Rc.538C>T (p.Leu180Phe)
c.597C>T
c.795C>T
22g.20242595G>CCA410712610RTN4Rc.538C>G (p.Leu180Val)
c.597C>G
c.795C>G
22g.20242595G>TCA410712611RTN4Rc.538C>A (p.Leu180Ile)
c.597C>A
c.795C>A
22g.20242596G>ACA513693324RTN4Rc.537C>T (p.Asn179=)
c.596C>T
c.794C>T
22g.20242596G>CCA410712612RTN4Rc.537C>G (p.Asn179Lys)
c.596C>G
c.794C>G
22g.20242596G>TCA410712613RTN4Rc.537C>A (p.Asn179Lys)
c.596C>A
c.794C>A
gnomAD v4
22g.20242597T>ACA410712614RTN4Rc.536A>T (p.Asn179Ile)
c.595A>T
c.793A>T
n.672A>T
22g.20242597T>CCA322183677RTN4Rc.536A>G (p.Asn179Ser)
c.595A>G
c.793A>G
n.672A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.20242597T>GCA410712616RTN4Rc.536A>C (p.Asn179Thr)
c.595A>C
c.793A>C
n.672A>C
22g.20242597T=CA2396269119RTN4Rc.536A= (p.Asn179=)
c.595A=
c.793A=
n.672A=
22g.20242598T>ACA410712618RTN4Rc.535A>T (p.Asn179Tyr)
c.594A>T
c.792A>T
n.671A>T
22g.20242598T>CCA410712620RTN4Rc.535A>G (p.Asn179Asp)
c.594A>G
c.792A>G
n.671A>G
22g.20242598T>GCA410712621RTN4Rc.535A>C (p.Asn179His)
c.594A>C
c.792A>C
n.671A>C
22g.20242599G>ACA513693330RTN4Rc.534C>T (p.Gly178=)
c.593C>T
c.791C>T
n.670C>T
22g.20242599G>CCA513693331RTN4Rc.534C>G (p.Gly178=)
c.593C>G
c.791C>G
n.670C>G
22g.20242599G>TCA513693332RTN4Rc.534C>A (p.Gly178=)
c.593C>A
c.791C>A
n.670C>A
22g.20242600C>ACA410712627RTN4Rc.533G>T (p.Gly178Val)
c.592G>T
c.790G>T
n.669G>T
22g.20242600C>GCA410712625RTN4Rc.533G>C (p.Gly178Ala)
c.592G>C
c.790G>C
n.669G>C
22g.20242600C>TCA410712623RTN4Rc.533G>A (p.Gly178Asp)
c.592G>A
c.790G>A
n.669G>A
22g.20242601C>ACA410712628RTN4Rc.532G>T (p.Gly178Cys)
c.591G>T
c.789G>T
n.668G>T
22g.20242601C=CA2396269120RTN4Rc.532G= (p.Gly178=)
c.591G=
c.789G=
n.668G=
22g.20242601C>GCA410712629RTN4Rc.532G>C (p.Gly178Arg)
c.591G>C
c.789G>C
n.668G>C
22g.20242601C>TCA410712631RTN4Rc.532G>A (p.Gly178Ser)
c.591G>A
c.789G>A
n.668G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.20242602C>ACA513693341RTN4Rc.531G>T (p.Leu177=)
c.590G>T
c.788G>T
n.667G>T
22g.20242602C>GCA513693342RTN4Rc.531G>C (p.Leu177=)
c.590G>C
c.788G>C
n.667G>C
22g.20242602C>TCA513693343RTN4Rc.531G>A (p.Leu177=)
c.590G>A
c.788G>A
n.667G>A
22g.20242603A=CA2396269121RTN4Rc.530T= (p.Leu177=)
c.589T=
c.787T=
n.666T=
22g.20242603A>CCA410712633RTN4Rc.530T>G (p.Leu177Arg)
c.589T>G
c.787T>G
n.666T>G
22g.20242603A>GCA410712635RTN4Rc.530T>C (p.Leu177Pro)
c.589T>C
c.787T>C
n.666T>C
dbSNP
22g.20242603A>TCA410712636RTN4Rc.530T>A (p.Leu177Gln)
c.589T>A
c.787T>A
n.666T>A
22g.20242604G>ACA513693348RTN4Rc.529C>T (p.Leu177=)
c.588C>T
c.786C>T
n.665C>T
dbSNP gnomAD v2 gnomAD v4
22g.20242604G>CCA410712638RTN4Rc.529C>G (p.Leu177Val)
c.588C>G
c.786C>G
n.665C>G
22g.20242604G=CA2396269122RTN4Rc.529C= (p.Leu177=)
c.588C=
c.786C=
n.665C=
22g.20242604G>TCA410712640RTN4Rc.529C>A (p.Leu177Met)
c.588C>A
c.786C>A
n.665C>A
22g.20242605G>ACA513693351RTN4Rc.528C>T (p.Asp176=)
c.587C>T
c.785C>T
n.664C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
22g.20242605G>CCA410712642RTN4Rc.528C>G (p.Asp176Glu)
c.587C>G
c.785C>G
n.664C>G
22g.20242605G=CA2396269123RTN4Rc.528C= (p.Asp176=)
c.587C=
c.785C=
n.664C=
22g.20242605G>TCA410712643RTN4Rc.528C>A (p.Asp176Glu)
c.587C>A
c.785C>A
n.664C>A
22g.20242606T>ACA410712645RTN4Rc.527A>T (p.Asp176Val)
c.586A>T
c.784A>T
n.663A>T
22g.20242606T>CCA410712647RTN4Rc.527A>G (p.Asp176Gly)
c.586A>G
c.784A>G
n.663A>G
dbSNP gnomAD v2 gnomAD v4
22g.20242606T>GCA410712649RTN4Rc.527A>C (p.Asp176Ala)
c.586A>C
c.784A>C
n.663A>C
22g.20242606T=CA2396269124RTN4Rc.527A= (p.Asp176=)
c.586A=
c.784A=
n.663A=
22g.20242607C>ACA410712653RTN4Rc.526G>T (p.Asp176Tyr)
c.585G>T
c.783G>T
n.662G>T
gnomAD v4
22g.20242607C>GCA410712650RTN4Rc.526G>C (p.Asp176His)
c.585G>C
c.783G>C
n.662G>C
22g.20242607C>TCA410712652RTN4Rc.526G>A (p.Asp176Asn)
c.585G>A
c.783G>A
n.662G>A
gnomAD v4
22g.20242608G>ACA10109568RTN4Rc.525C>T (p.Arg175=)
c.584C>T
c.782C>T
n.661C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.20242608G>CCA513693356RTN4Rc.525C>G (p.Arg175=)
c.584C>G
c.782C>G
n.661C>G
22g.20242608G=CA2396269125RTN4Rc.525C= (p.Arg175=)
c.584C=
c.782C=
n.661C=
22g.20242608G>TCA513693357RTN4Rc.525C>A (p.Arg175=)
c.584C>A
c.782C>A
n.661C>A
22g.20242609C>ACA410712656RTN4Rc.524G>T (p.Arg175Leu)
c.583G>T
c.781G>T
n.660G>T
22g.20242609C=CA2396269126RTN4Rc.524G= (p.Arg175=)
c.583G=
c.781G=
n.660G=
22g.20242609C>GCA410712657RTN4Rc.524G>C (p.Arg175Pro)
c.583G>C
c.781G>C
n.660G>C
22g.20242609C>TCA10109569RTN4Rc.524G>A (p.Arg175His)
c.583G>A
c.781G>A
n.660G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20242610G>ACA10109570RTN4Rc.523C>T (p.Arg175Cys)
c.582C>T
c.780C>T
n.659C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20242610G>CCA410712660RTN4Rc.523C>G (p.Arg175Gly)
c.582C>G
c.780C>G
n.659C>G
22g.20242610G=CA2396269127RTN4Rc.523C= (p.Arg175=)
c.582C=
c.780C=
n.659C=
22g.20242610G>TCA410712661RTN4Rc.523C>A (p.Arg175Ser)
c.582C>A
c.780C>A
n.659C>A
22g.20242611G>ACA513693365RTN4Rc.522C>T (p.Phe174=)
c.581C>T
c.779C>T
n.658C>T
dbSNP
22g.20242611G>CCA410712663RTN4Rc.522C>G (p.Phe174Leu)
c.581C>G
c.779C>G
n.658C>G
22g.20242611G>TCA410712665RTN4Rc.522C>A (p.Phe174Leu)
c.581C>A
c.779C>A
n.658C>A
22g.20242612A>CCA410712667RTN4Rc.521T>G (p.Phe174Cys)
c.580T>G
c.778T>G
n.657T>G
22g.20242612A>GCA410712668RTN4Rc.521T>C (p.Phe174Ser)
c.580T>C
c.778T>C
n.657T>C
22g.20242612A>TCA410712669RTN4Rc.521T>A (p.Phe174Tyr)
c.580T>A
c.778T>A
n.657T>A
22g.20242613A>CCA410712675RTN4Rc.520T>G (p.Phe174Val)
c.579T>G
c.777T>G
n.656T>G
22g.20242613A>GCA410712673RTN4Rc.520T>C (p.Phe174Leu)
c.579T>C
c.777T>C
n.656T>C
22g.20242613A>TCA410712672RTN4Rc.520T>A (p.Phe174Ile)
c.579T>A
c.777T>A
n.656T>A
22g.20242614G>ACA513693376RTN4Rc.519C>T (p.Thr173=)
c.578C>T
c.776C>T
n.655C>T
22g.20242614G>CCA513693378RTN4Rc.519C>G (p.Thr173=)
c.578C>G
c.776C>G
n.655C>G
22g.20242614G=CA2396269128RTN4Rc.519C= (p.Thr173=)
c.578C=
c.776C=
n.655C=
22g.20242614G>TCA10109571RTN4Rc.519C>A (p.Thr173=)
c.578C>A
c.776C>A
n.655C>A
dbSNP ExAC gnomAD v2 gnomAD v4
22g.20242615G>ACA410712679RTN4Rc.518C>T (p.Thr173Ile)
c.577C>T
c.775C>T
n.654C>T
22g.20242615G>CCA410712677RTN4Rc.518C>G (p.Thr173Ser)
c.577C>G
c.775C>G
n.654C>G
22g.20242615G>TCA410712681RTN4Rc.518C>A (p.Thr173Asn)
c.577C>A
c.775C>A
n.654C>A
gnomAD v4
22g.20242616T>ACA410712682RTN4Rc.517A>T (p.Thr173Ser)
c.576A>T
c.774A>T
n.653A>T
22g.20242616T>CCA410712683RTN4Rc.517A>G (p.Thr173Ala)
c.576A>G
c.774A>G
n.653A>G
22g.20242616T>GCA410712685RTN4Rc.517A>C (p.Thr173Pro)
c.576A>C
c.774A>C
n.653A>C
dbSNP
22g.20242616T=CA2396269129RTN4Rc.517A= (p.Thr173=)
c.576A=
c.774A=
n.653A=
22g.20242617G>ACA513693381RTN4Rc.516C>T (p.Asp172=)
c.575C>T
c.773C>T
n.652C>T
gnomAD v4
22g.20242617G>CCA10109572RTN4Rc.516C>G (p.Asp172Glu)
c.575C>G
c.773C>G
n.652C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.20242617G=CA2396269130RTN4Rc.516C= (p.Asp172=)
c.575C=
c.773C=
n.652C=
22g.20242617G>TCA410712688RTN4Rc.516C>A (p.Asp172Glu)
c.575C>A
c.773C>A
n.652C>A
22g.20242618T>ACA410712689RTN4Rc.515A>T (p.Asp172Val)
c.574A>T
c.772A>T
n.651A>T
22g.20242618T>CCA410712690RTN4Rc.515A>G (p.Asp172Gly)
c.574A>G
c.772A>G
n.651A>G
gnomAD v4
22g.20242618T>GCA410712692RTN4Rc.515A>C (p.Asp172Ala)
c.574A>C
c.772A>C
n.651A>C

Number of alleles fetched