Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154860455dupCA2695237123F8c.6882dup (p.Gln2295SerfsTer?)
c.615dup (p.Gln206SerfsTer?)
c.477dup (p.Gln160SerfsTer?)
c.6777dup (p.Gln2260SerfsTer?)
Xg.154860455delCA2695237124F8c.6882del (p.Gln2295ArgfsTer5)
c.615del (p.Gln206ArgfsTer5)
c.477del (p.Gln160ArgfsTer5)
c.6777del (p.Gln2260ArgfsTer5)
Xg.154860454_154860455delCA2695237125F8c.6881_6882del (p.Phe2294SerfsTer?)
c.614_615del (p.Phe205SerfsTer?)
c.476_477del (p.Phe159SerfsTer?)
c.6776_6777del (p.Phe2259SerfsTer?)
Xg.154860452_154860455delCA2466814980F8c.6879_6882del (p.Phe2294ArgfsTer5)
c.612_615del (p.Phe205ArgfsTer5)
c.474_477del (p.Phe159ArgfsTer5)
c.6774_6777del (p.Phe2259ArgfsTer5)
 dbSNP
Xg.154860454A>CCA414903083F8c.6878T>G (p.Phe2293Cys)
c.611T>G (p.Phe204Cys)
c.473T>G (p.Phe158Cys)
c.6773T>G (p.Phe2258Cys)
 gnomAD v4
Xg.154860454A>GCA414903086F8c.6878T>C (p.Phe2293Ser)
c.611T>C (p.Phe204Ser)
c.473T>C (p.Phe158Ser)
c.6773T>C (p.Phe2258Ser)
Xg.154860454A>TCA414903090F8c.6878T>A (p.Phe2293Tyr)
c.611T>A (p.Phe204Tyr)
c.473T>A (p.Phe158Tyr)
c.6773T>A (p.Phe2258Tyr)
Xg.154860454_154860456delinsAAGCA2466814981F8c.6876_6878delinsCTT (p.Leu2292=)
c.609_611delinsCTT (p.Leu203=)
c.471_473delinsCTT (p.Leu157=)
c.6771_6773delinsCTT (p.Leu2257=)
Xg.154860455A>CCA414903091F8c.6877T>G (p.Phe2293Val)
c.610T>G (p.Phe204Val)
c.472T>G (p.Phe158Val)
c.6772T>G (p.Phe2258Val)
Xg.154860455A>GCA414903092F8c.6877T>C (p.Phe2293Leu)
c.610T>C (p.Phe204Leu)
c.472T>C (p.Phe158Leu)
c.6772T>C (p.Phe2258Leu)
Xg.154860455A>TCA414903094F8c.6877T>A (p.Phe2293Ile)
c.610T>A (p.Phe204Ile)
c.472T>A (p.Phe158Ile)
c.6772T>A (p.Phe2258Ile)
Xg.154860459_154860460delCA873368227F8c.6876_6877del (p.Phe2294SerfsTer?)
c.609_610del (p.Phe205SerfsTer?)
c.471_472del (p.Phe159SerfsTer?)
c.6771_6772del (p.Phe2259SerfsTer?)
 ClinVar dbSNP
Xg.154860456G>ACA519356049F8c.6876C>T (p.Leu2292=)
c.609C>T (p.Leu203=)
c.471C>T (p.Leu157=)
c.6771C>T (p.Leu2257=)
 gnomAD v4
Xg.154860456G>CCA519356051F8c.6876C>G (p.Leu2292=)
c.609C>G (p.Leu203=)
c.471C>G (p.Leu157=)
c.6771C>G (p.Leu2257=)
 dbSNP
Xg.154860456G=CA2466814982F8c.6876C= (p.Leu2292=)
c.609C= (p.Leu203=)
c.471C= (p.Leu157=)
c.6771C= (p.Leu2257=)
Xg.154860456G>TCA519356050F8c.6876C>A (p.Leu2292=)
c.609C>A (p.Leu203=)
c.471C>A (p.Leu157=)
c.6771C>A (p.Leu2257=)
Xg.154860457A>CCA414903100F8c.6875T>G (p.Leu2292Arg)
c.608T>G (p.Leu203Arg)
c.470T>G (p.Leu157Arg)
c.6770T>G (p.Leu2257Arg)
Xg.154860457A>GCA414903103F8c.6875T>C (p.Leu2292Pro)
c.608T>C (p.Leu203Pro)
c.470T>C (p.Leu157Pro)
c.6770T>C (p.Leu2257Pro)
Xg.154860457A>TCA414903106F8c.6875T>A (p.Leu2292His)
c.608T>A (p.Leu203His)
c.470T>A (p.Leu157His)
c.6770T>A (p.Leu2257His)
Xg.154860458G>ACA414903125F8c.6874C>T (p.Leu2292Phe)
c.607C>T (p.Leu203Phe)
c.469C>T (p.Leu157Phe)
c.6769C>T (p.Leu2257Phe)
Xg.154860458G>CCA414903127F8c.6874C>G (p.Leu2292Val)
c.607C>G (p.Leu203Val)
c.469C>G (p.Leu157Val)
c.6769C>G (p.Leu2257Val)
 gnomAD v4
Xg.154860458G>TCA414903120F8c.6874C>A (p.Leu2292Ile)
c.607C>A (p.Leu203Ile)
c.469C>A (p.Leu157Ile)
c.6769C>A (p.Leu2257Ile)
Xg.154860459A>CCA519356053F8c.6873T>G (p.Thr2291=)
c.606T>G (p.Thr202=)
c.468T>G (p.Thr156=)
c.6768T>G (p.Thr2256=)
Xg.154860459A>GCA519356054F8c.6873T>C (p.Thr2291=)
c.606T>C (p.Thr202=)
c.468T>C (p.Thr156=)
c.6768T>C (p.Thr2256=)
Xg.154860459A>TCA519356055F8c.6873T>A (p.Thr2291=)
c.606T>A (p.Thr202=)
c.468T>A (p.Thr156=)
c.6768T>A (p.Thr2256=)
Xg.154860460G>ACA414903134F8c.6872C>T (p.Thr2291Ile)
c.605C>T (p.Thr202Ile)
c.467C>T (p.Thr156Ile)
c.6767C>T (p.Thr2256Ile)
Xg.154860460G>CCA414903130F8c.6872C>G (p.Thr2291Ser)
c.605C>G (p.Thr202Ser)
c.467C>G (p.Thr156Ser)
c.6767C>G (p.Thr2256Ser)
Xg.154860460G>TCA414903137F8c.6872C>A (p.Thr2291Asn)
c.605C>A (p.Thr202Asn)
c.467C>A (p.Thr156Asn)
c.6767C>A (p.Thr2256Asn)
Xg.154860461T>ACA414903141F8c.6871A>T (p.Thr2291Ser)
c.604A>T (p.Thr202Ser)
c.466A>T (p.Thr156Ser)
c.6766A>T (p.Thr2256Ser)
Xg.154860461T>CCA10567753F8c.6871A>G (p.Thr2291Ala)
c.604A>G (p.Thr202Ala)
c.466A>G (p.Thr156Ala)
c.6766A>G (p.Thr2256Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154860461T>GCA414903144F8c.6871A>C (p.Thr2291Pro)
c.604A>C (p.Thr202Pro)
c.466A>C (p.Thr156Pro)
c.6766A>C (p.Thr2256Pro)
Xg.154860461T=CA2466814983F8c.6871A= (p.Thr2291=)
c.604A= (p.Thr202=)
c.466A= (p.Thr156=)
c.6766A= (p.Thr2256=)
Xg.154860462C>ACA414903147F8c.6870G>T (p.Trp2290Cys)
c.603G>T (p.Trp201Cys)
c.465G>T (p.Trp155Cys)
c.6765G>T (p.Trp2255Cys)
Xg.154860462C>GCA414903150F8c.6870G>C (p.Trp2290Cys)
c.603G>C (p.Trp201Cys)
c.465G>C (p.Trp155Cys)
c.6765G>C (p.Trp2255Cys)
Xg.154860462C>TCA414903151F8c.6870G>A (p.Trp2290Ter)
c.603G>A (p.Trp201Ter)
c.465G>A (p.Trp155Ter)
c.6765G>A (p.Trp2255Ter)
Xg.154860463C>ACA414903154F8c.6869G>T (p.Trp2290Leu)
c.602G>T (p.Trp201Leu)
c.464G>T (p.Trp155Leu)
c.6764G>T (p.Trp2255Leu)
Xg.154860463C>GCA414903157F8c.6869G>C (p.Trp2290Ser)
c.602G>C (p.Trp201Ser)
c.464G>C (p.Trp155Ser)
c.6764G>C (p.Trp2255Ser)
Xg.154860463C>TCA414903162F8c.6869G>A (p.Trp2290Ter)
c.602G>A (p.Trp201Ter)
c.464G>A (p.Trp155Ter)
c.6764G>A (p.Trp2255Ter)
Xg.154860464A=CA2466814984F8c.6868T= (p.Trp2290=)
c.601T= (p.Trp201=)
c.463T= (p.Trp155=)
c.6763T= (p.Trp2255=)
Xg.154860464A>CCA414903172F8c.6868T>G (p.Trp2290Gly)
c.601T>G (p.Trp201Gly)
c.463T>G (p.Trp155Gly)
c.6763T>G (p.Trp2255Gly)
Xg.154860464A>GCA414903181F8c.6868T>C (p.Trp2290Arg)
c.601T>C (p.Trp201Arg)
c.463T>C (p.Trp155Arg)
c.6763T>C (p.Trp2255Arg)
 ClinVar dbSNP
Xg.154860464A>TCA414903186F8c.6868T>A (p.Trp2290Arg)
c.601T>A (p.Trp201Arg)
c.463T>A (p.Trp155Arg)
c.6763T>A (p.Trp2255Arg)
Xg.154860465C>ACA414903191F8c.6867G>T (p.Gln2289His)
c.600G>T (p.Gln200His)
c.462G>T (p.Gln154His)
c.6762G>T (p.Gln2254His)
Xg.154860465C>GCA414903198F8c.6867G>C (p.Gln2289His)
c.600G>C (p.Gln200His)
c.462G>C (p.Gln154His)
c.6762G>C (p.Gln2254His)
Xg.154860465C>TCA519356059F8c.6867G>A (p.Gln2289=)
c.600G>A (p.Gln200=)
c.462G>A (p.Gln154=)
c.6762G>A (p.Gln2254=)
Xg.154860467_154860477delCA2695237126F8c.6857_6867del (p.Asp2286ValfsTer?)
c.590_600del (p.Asp197ValfsTer?)
c.452_462del (p.Asp151ValfsTer?)
c.6752_6762del (p.Asp2251ValfsTer?)
Xg.154860466T>ACA414903209F8c.6866A>T (p.Gln2289Leu)
c.599A>T (p.Gln200Leu)
c.461A>T (p.Gln154Leu)
c.6761A>T (p.Gln2254Leu)
Xg.154860466T>CCA414903210F8c.6866A>G (p.Gln2289Arg)
c.599A>G (p.Gln200Arg)
c.461A>G (p.Gln154Arg)
c.6761A>G (p.Gln2254Arg)
 gnomAD v4
Xg.154860466T>GCA414903213F8c.6866A>C (p.Gln2289Pro)
c.599A>C (p.Gln200Pro)
c.461A>C (p.Gln154Pro)
c.6761A>C (p.Gln2254Pro)
Xg.154860467G>ACA255221F8c.6865C>T (p.Gln2289Ter)
c.598C>T (p.Gln200Ter)
c.460C>T (p.Gln154Ter)
c.6760C>T (p.Gln2254Ter)
 ClinVar dbSNP
Xg.154860467G>CCA414903222F8c.6865C>G (p.Gln2289Glu)
c.598C>G (p.Gln200Glu)
c.460C>G (p.Gln154Glu)
c.6760C>G (p.Gln2254Glu)
 dbSNP
Xg.154860467G=CA2466814985F8c.6865C= (p.Gln2289=)
c.598C= (p.Gln200=)
c.460C= (p.Gln154=)
c.6760C= (p.Gln2254=)
Xg.154860467G>TCA414903229F8c.6865C>A (p.Gln2289Lys)
c.598C>A (p.Gln200Lys)
c.460C>A (p.Gln154Lys)
c.6760C>A (p.Gln2254Lys)
Xg.154860468A>CCA414903236F8c.6864T>G (p.His2288Gln)
c.597T>G (p.His199Gln)
c.459T>G (p.His153Gln)
c.6759T>G (p.His2253Gln)
Xg.154860468A>GCA519356064F8c.6864T>C (p.His2288=)
c.597T>C (p.His199=)
c.459T>C (p.His153=)
c.6759T>C (p.His2253=)
Xg.154860468A>TCA414903244F8c.6864T>A (p.His2288Gln)
c.597T>A (p.His199Gln)
c.459T>A (p.His153Gln)
c.6759T>A (p.His2253Gln)
Xg.154860469T>ACA414903258F8c.6863A>T (p.His2288Leu)
c.596A>T (p.His199Leu)
c.458A>T (p.His153Leu)
c.6758A>T (p.His2253Leu)
Xg.154860469T>CCA414903263F8c.6863A>G (p.His2288Arg)
c.596A>G (p.His199Arg)
c.458A>G (p.His153Arg)
c.6758A>G (p.His2253Arg)
Xg.154860469T>GCA414903269F8c.6863A>C (p.His2288Pro)
c.596A>C (p.His199Pro)
c.458A>C (p.His153Pro)
c.6758A>C (p.His2253Pro)
Xg.154860470G>ACA414903286F8c.6862C>T (p.His2288Tyr)
c.595C>T (p.His199Tyr)
c.457C>T (p.His153Tyr)
c.6757C>T (p.His2253Tyr)
 dbSNP gnomAD v4
Xg.154860470G>CCA414903282F8c.6862C>G (p.His2288Asp)
c.595C>G (p.His199Asp)
c.457C>G (p.His153Asp)
c.6757C>G (p.His2253Asp)
Xg.154860470G=CA2466814986F8c.6862C= (p.His2288=)
c.595C= (p.His199=)
c.457C= (p.His153=)
c.6757C= (p.His2253=)
Xg.154860470G>TCA414903275F8c.6862C>A (p.His2288Asn)
c.595C>A (p.His199Asn)
c.457C>A (p.His153Asn)
c.6757C>A (p.His2253Asn)
Xg.154860471delCA2695237127F8c.6862del (p.His2288IlefsTer12)
c.595del (p.His199IlefsTer12)
c.457del (p.His153IlefsTer12)
c.6757del (p.His2253IlefsTer12)
Xg.154860471G>ACA519356070F8c.6861C>T (p.Gly2287=)
c.594C>T (p.Gly198=)
c.456C>T (p.Gly152=)
c.6756C>T (p.Gly2252=)
 gnomAD v4 COSMIC COSMIC
Xg.154860471G>CCA519356067F8c.6861C>G (p.Gly2287=)
c.594C>G (p.Gly198=)
c.456C>G (p.Gly152=)
c.6756C>G (p.Gly2252=)
 gnomAD v4
Xg.154860471G>TCA519356069F8c.6861C>A (p.Gly2287=)
c.594C>A (p.Gly198=)
c.456C>A (p.Gly152=)
c.6756C>A (p.Gly2252=)
Xg.154860472C>ACA414903301F8c.6860G>T (p.Gly2287Val)
c.593G>T (p.Gly198Val)
c.455G>T (p.Gly152Val)
c.6755G>T (p.Gly2252Val)
Xg.154860472C>GCA414903293F8c.6860G>C (p.Gly2287Ala)
c.593G>C (p.Gly198Ala)
c.455G>C (p.Gly152Ala)
c.6755G>C (p.Gly2252Ala)
Xg.154860472C>TCA414903300F8c.6860G>A (p.Gly2287Asp)
c.593G>A (p.Gly198Asp)
c.455G>A (p.Gly152Asp)
c.6755G>A (p.Gly2252Asp)
Xg.154860473C>ACA414903302F8c.6859G>T (p.Gly2287Cys)
c.592G>T (p.Gly198Cys)
c.454G>T (p.Gly152Cys)
c.6754G>T (p.Gly2252Cys)
Xg.154860473C>GCA414903305F8c.6859G>C (p.Gly2287Arg)
c.592G>C (p.Gly198Arg)
c.454G>C (p.Gly152Arg)
c.6754G>C (p.Gly2252Arg)
Xg.154860473C>TCA414903313F8c.6859G>A (p.Gly2287Ser)
c.592G>A (p.Gly198Ser)
c.454G>A (p.Gly152Ser)
c.6754G>A (p.Gly2252Ser)
Xg.154860474A>CCA414903317F8c.6858T>G (p.Asp2286Glu)
c.591T>G (p.Asp197Glu)
c.453T>G (p.Asp151Glu)
c.6753T>G (p.Asp2251Glu)
Xg.154860474A>GCA519356072F8c.6858T>C (p.Asp2286=)
c.591T>C (p.Asp197=)
c.453T>C (p.Asp151=)
c.6753T>C (p.Asp2251=)
Xg.154860474A>TCA414903321F8c.6858T>A (p.Asp2286Glu)
c.591T>A (p.Asp197Glu)
c.453T>A (p.Asp151Glu)
c.6753T>A (p.Asp2251Glu)
Xg.154860475T>ACA414903324F8c.6857A>T (p.Asp2286Val)
c.590A>T (p.Asp197Val)
c.452A>T (p.Asp151Val)
c.6752A>T (p.Asp2251Val)
 dbSNP
Xg.154860475T>CCA414903332F8c.6857A>G (p.Asp2286Gly)
c.590A>G (p.Asp197Gly)
c.452A>G (p.Asp151Gly)
c.6752A>G (p.Asp2251Gly)
Xg.154860475T>GCA414903336F8c.6857A>C (p.Asp2286Ala)
c.590A>C (p.Asp197Ala)
c.452A>C (p.Asp151Ala)
c.6752A>C (p.Asp2251Ala)
Xg.154860475T=CA2466814987F8c.6857A= (p.Asp2286=)
c.590A= (p.Asp197=)
c.452A= (p.Asp151=)
c.6752A= (p.Asp2251=)
Xg.154860476C>ACA414903341F8c.6856G>T (p.Asp2286Tyr)
c.589G>T (p.Asp197Tyr)
c.451G>T (p.Asp151Tyr)
c.6751G>T (p.Asp2251Tyr)
Xg.154860476C>GCA414903346F8c.6856G>C (p.Asp2286His)
c.589G>C (p.Asp197His)
c.451G>C (p.Asp151His)
c.6751G>C (p.Asp2251His)
Xg.154860476C>TCA414903354F8c.6856G>A (p.Asp2286Asn)
c.589G>A (p.Asp197Asn)
c.451G>A (p.Asp151Asn)
c.6751G>A (p.Asp2251Asn)
 gnomAD v4
Xg.154860477T>ACA414903368F8c.6855A>T (p.Gln2285His)
c.588A>T (p.Gln196His)
c.450A>T (p.Gln150His)
c.6750A>T (p.Gln2250His)
Xg.154860477T>CCA519356083F8c.6855A>G (p.Gln2285=)
c.588A>G (p.Gln196=)
c.450A>G (p.Gln150=)
c.6750A>G (p.Gln2250=)
 dbSNP gnomAD v2 gnomAD v4
Xg.154860477T>GCA414903370F8c.6855A>C (p.Gln2285His)
c.588A>C (p.Gln196His)
c.450A>C (p.Gln150His)
c.6750A>C (p.Gln2250His)
Xg.154860477T=CA2466814988F8c.6855A= (p.Gln2285=)
c.588A= (p.Gln196=)
c.450A= (p.Gln150=)
c.6750A= (p.Gln2250=)
Xg.154860478T>ACA414903373F8c.6854A>T (p.Gln2285Leu)
c.587A>T (p.Gln196Leu)
c.449A>T (p.Gln150Leu)
c.6749A>T (p.Gln2250Leu)
Xg.154860478T>CCA414903374F8c.6854A>G (p.Gln2285Arg)
c.587A>G (p.Gln196Arg)
c.449A>G (p.Gln150Arg)
c.6749A>G (p.Gln2250Arg)
Xg.154860478T>GCA414903375F8c.6854A>C (p.Gln2285Pro)
c.587A>C (p.Gln196Pro)
c.449A>C (p.Gln150Pro)
c.6749A>C (p.Gln2250Pro)
Xg.154860479G>ACA414903379F8c.6853C>T (p.Gln2285Ter)
c.586C>T (p.Gln196Ter)
c.448C>T (p.Gln150Ter)
c.6748C>T (p.Gln2250Ter)
Xg.154860479G>CCA414903384F8c.6853C>G (p.Gln2285Glu)
c.586C>G (p.Gln196Glu)
c.448C>G (p.Gln150Glu)
c.6748C>G (p.Gln2250Glu)
Xg.154860479G>TCA414903389F8c.6853C>A (p.Gln2285Lys)
c.586C>A (p.Gln196Lys)
c.448C>A (p.Gln150Lys)
c.6748C>A (p.Gln2250Lys)
 COSMIC COSMIC
Xg.154860480A>CCA414903393F8c.6852T>G (p.Ser2284Arg)
c.585T>G (p.Ser195Arg)
c.447T>G (p.Ser149Arg)
c.6747T>G (p.Ser2249Arg)
Xg.154860480A>GCA519356089F8c.6852T>C (p.Ser2284=)
c.585T>C (p.Ser195=)
c.447T>C (p.Ser149=)
c.6747T>C (p.Ser2249=)
Xg.154860480A>TCA414903394F8c.6852T>A (p.Ser2284Arg)
c.585T>A (p.Ser195Arg)
c.447T>A (p.Ser149Arg)
c.6747T>A (p.Ser2249Arg)
 COSMIC COSMIC
Xg.154860481C>ACA414903395F8c.6851G>T (p.Ser2284Ile)
c.584G>T (p.Ser195Ile)
c.446G>T (p.Ser149Ile)
c.6746G>T (p.Ser2249Ile)
Xg.154860481C>GCA414903398F8c.6851G>C (p.Ser2284Thr)
c.584G>C (p.Ser195Thr)
c.446G>C (p.Ser149Thr)
c.6746G>C (p.Ser2249Thr)
Xg.154860481C>TCA414903401F8c.6851G>A (p.Ser2284Asn)
c.584G>A (p.Ser195Asn)
c.446G>A (p.Ser149Asn)
c.6746G>A (p.Ser2249Asn)
Xg.154860482T>ACA414903410F8c.6850A>T (p.Ser2284Cys)
c.583A>T (p.Ser195Cys)
c.445A>T (p.Ser149Cys)
c.6745A>T (p.Ser2249Cys)
Xg.154860482T>CCA414903413F8c.6850A>G (p.Ser2284Gly)
c.583A>G (p.Ser195Gly)
c.445A>G (p.Ser149Gly)
c.6745A>G (p.Ser2249Gly)
Xg.154860482T>GCA414903408F8c.6850A>C (p.Ser2284Arg)
c.583A>C (p.Ser195Arg)
c.445A>C (p.Ser149Arg)
c.6745A>C (p.Ser2249Arg)
Xg.154860483G>ACA519356091F8c.6849C>T (p.Ser2283=)
c.582C>T (p.Ser194=)
c.444C>T (p.Ser148=)
c.6744C>T (p.Ser2248=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154860483G>CCA414903414F8c.6849C>G (p.Ser2283Arg)
c.582C>G (p.Ser194Arg)
c.444C>G (p.Ser148Arg)
c.6744C>G (p.Ser2248Arg)
Xg.154860483G=CA2466814989F8c.6849C= (p.Ser2283=)
c.582C= (p.Ser194=)
c.444C= (p.Ser148=)
c.6744C= (p.Ser2248=)
Xg.154860483G>TCA414903415F8c.6849C>A (p.Ser2283Arg)
c.582C>A (p.Ser194Arg)
c.444C>A (p.Ser148Arg)
c.6744C>A (p.Ser2248Arg)
 gnomAD v4
Xg.154860484C>ACA414903418F8c.6848G>T (p.Ser2283Ile)
c.581G>T (p.Ser194Ile)
c.443G>T (p.Ser148Ile)
c.6743G>T (p.Ser2248Ile)
Xg.154860484C>GCA414903420F8c.6848G>C (p.Ser2283Thr)
c.581G>C (p.Ser194Thr)
c.443G>C (p.Ser148Thr)
c.6743G>C (p.Ser2248Thr)
Xg.154860484C>TCA414903423F8c.6848G>A (p.Ser2283Asn)
c.581G>A (p.Ser194Asn)
c.443G>A (p.Ser148Asn)
c.6743G>A (p.Ser2248Asn)
 COSMIC COSMIC
Xg.154860485T>ACA414903426F8c.6847A>T (p.Ser2283Cys)
c.580A>T (p.Ser194Cys)
c.442A>T (p.Ser148Cys)
c.6742A>T (p.Ser2248Cys)
Xg.154860485T>CCA414903427F8c.6847A>G (p.Ser2283Gly)
c.580A>G (p.Ser194Gly)
c.442A>G (p.Ser148Gly)
c.6742A>G (p.Ser2248Gly)
Xg.154860485T>GCA414903429F8c.6847A>C (p.Ser2283Arg)
c.580A>C (p.Ser194Arg)
c.442A>C (p.Ser148Arg)
c.6742A>C (p.Ser2248Arg)
Xg.154860486G>ACA519356096F8c.6846C>T (p.Ser2282=)
c.579C>T (p.Ser193=)
c.441C>T (p.Ser147=)
c.6741C>T (p.Ser2247=)
Xg.154860486G>CCA519356099F8c.6846C>G (p.Ser2282=)
c.579C>G (p.Ser193=)
c.441C>G (p.Ser147=)
c.6741C>G (p.Ser2247=)
Xg.154860486G>TCA519356102F8c.6846C>A (p.Ser2282=)
c.579C>A (p.Ser193=)
c.441C>A (p.Ser147=)
c.6741C>A (p.Ser2247=)
Xg.154860487delCA2539880297F8c.6846del (p.Ser2283AlafsTer17)
c.579del (p.Ser194AlafsTer17)
c.441del (p.Ser148AlafsTer17)
c.6741del (p.Ser2248AlafsTer17)
Xg.154860487G>ACA414903432F8c.6845C>T (p.Ser2282Phe)
c.578C>T (p.Ser193Phe)
c.440C>T (p.Ser147Phe)
c.6740C>T (p.Ser2247Phe)
 dbSNP COSMIC COSMIC
Xg.154860487G>CCA414903435F8c.6845C>G (p.Ser2282Cys)
c.578C>G (p.Ser193Cys)
c.440C>G (p.Ser147Cys)
c.6740C>G (p.Ser2247Cys)
Xg.154860487G=CA2466814990F8c.6845C= (p.Ser2282=)
c.578C= (p.Ser193=)
c.440C= (p.Ser147=)
c.6740C= (p.Ser2247=)
Xg.154860487G>TCA414903441F8c.6845C>A (p.Ser2282Tyr)
c.578C>A (p.Ser193Tyr)
c.440C>A (p.Ser147Tyr)
c.6740C>A (p.Ser2247Tyr)
Xg.154860488A>CCA414903449F8c.6844T>G (p.Ser2282Ala)
c.577T>G (p.Ser193Ala)
c.439T>G (p.Ser147Ala)
c.6739T>G (p.Ser2247Ala)
Xg.154860488A>GCA414903452F8c.6844T>C (p.Ser2282Pro)
c.577T>C (p.Ser193Pro)
c.439T>C (p.Ser147Pro)
c.6739T>C (p.Ser2247Pro)
Xg.154860488A>TCA414903454F8c.6844T>A (p.Ser2282Thr)
c.577T>A (p.Ser193Thr)
c.439T>A (p.Ser147Thr)
c.6739T>A (p.Ser2247Thr)
Xg.154860489delCA2695237128F8c.6843del (p.Ser2282ProfsTer18)
c.576del (p.Ser193ProfsTer18)
c.438del (p.Ser147ProfsTer18)
c.6738del (p.Ser2247ProfsTer18)
Xg.154860489G>ACA519356104F8c.6843C>T (p.Ile2281=)
c.576C>T (p.Ile192=)
c.438C>T (p.Ile146=)
c.6738C>T (p.Ile2246=)
 dbSNP
Xg.154860489G>CCA414903456F8c.6843C>G (p.Ile2281Met)
c.576C>G (p.Ile192Met)
c.438C>G (p.Ile146Met)
c.6738C>G (p.Ile2246Met)
Xg.154860489G=CA2466814991F8c.6843C= (p.Ile2281=)
c.576C= (p.Ile192=)
c.438C= (p.Ile146=)
c.6738C= (p.Ile2246=)
Xg.154860489G>TCA519356107F8c.6843C>A (p.Ile2281=)
c.576C>A (p.Ile192=)
c.438C>A (p.Ile146=)
c.6738C>A (p.Ile2246=)
Xg.154860490A>CCA414903460F8c.6842T>G (p.Ile2281Ser)
c.575T>G (p.Ile192Ser)
c.437T>G (p.Ile146Ser)
c.6737T>G (p.Ile2246Ser)
Xg.154860490A>GCA414903462F8c.6842T>C (p.Ile2281Thr)
c.575T>C (p.Ile192Thr)
c.437T>C (p.Ile146Thr)
c.6737T>C (p.Ile2246Thr)
Xg.154860490A>TCA414903468F8c.6842T>A (p.Ile2281Asn)
c.575T>A (p.Ile192Asn)
c.437T>A (p.Ile146Asn)
c.6737T>A (p.Ile2246Asn)
Xg.154860491T>ACA414903479F8c.6841A>T (p.Ile2281Phe)
c.574A>T (p.Ile192Phe)
c.436A>T (p.Ile146Phe)
c.6736A>T (p.Ile2246Phe)
Xg.154860491T>CCA414903482F8c.6841A>G (p.Ile2281Val)
c.574A>G (p.Ile192Val)
c.436A>G (p.Ile146Val)
c.6736A>G (p.Ile2246Val)
Xg.154860491T>GCA414903488F8c.6841A>C (p.Ile2281Leu)
c.574A>C (p.Ile192Leu)
c.436A>C (p.Ile146Leu)
c.6736A>C (p.Ile2246Leu)
Xg.154860492G>ACA519356116F8c.6840C>T (p.Leu2280=)
c.573C>T (p.Leu191=)
c.435C>T (p.Leu145=)
c.6735C>T (p.Leu2245=)
Xg.154860492G>CCA519356118F8c.6840C>G (p.Leu2280=)
c.573C>G (p.Leu191=)
c.435C>G (p.Leu145=)
c.6735C>G (p.Leu2245=)
Xg.154860492G>TCA519356119F8c.6840C>A (p.Leu2280=)
c.573C>A (p.Leu191=)
c.435C>A (p.Leu145=)
c.6735C>A (p.Leu2245=)
Xg.154860493A>CCA414903491F8c.6839T>G (p.Leu2280Arg)
c.572T>G (p.Leu191Arg)
c.434T>G (p.Leu145Arg)
c.6734T>G (p.Leu2245Arg)
Xg.154860493A>GCA414903492F8c.6839T>C (p.Leu2280Pro)
c.572T>C (p.Leu191Pro)
c.434T>C (p.Leu145Pro)
c.6734T>C (p.Leu2245Pro)
Xg.154860493A>TCA414903493F8c.6839T>A (p.Leu2280His)
c.572T>A (p.Leu191His)
c.434T>A (p.Leu145His)
c.6734T>A (p.Leu2245His)
Xg.154860494G>ACA414903496F8c.6838C>T (p.Leu2280Phe)
c.571C>T (p.Leu191Phe)
c.433C>T (p.Leu145Phe)
c.6733C>T (p.Leu2245Phe)
 dbSNP
Xg.154860494G>CCA414903499F8c.6838C>G (p.Leu2280Val)
c.571C>G (p.Leu191Val)
c.433C>G (p.Leu145Val)
c.6733C>G (p.Leu2245Val)
Xg.154860494G>TCA414903502F8c.6838C>A (p.Leu2280Ile)
c.571C>A (p.Leu191Ile)
c.433C>A (p.Leu145Ile)
c.6733C>A (p.Leu2245Ile)
Xg.154860495G>ACA519356123F8c.6837C>T (p.Phe2279=)
c.570C>T (p.Phe190=)
c.432C>T (p.Phe144=)
c.6732C>T (p.Phe2244=)
Xg.154860495G>CCA414903506F8c.6837C>G (p.Phe2279Leu)
c.570C>G (p.Phe190Leu)
c.432C>G (p.Phe144Leu)
c.6732C>G (p.Phe2244Leu)
Xg.154860495G=CA2466814992F8c.6837C= (p.Phe2279=)
c.570C= (p.Phe190=)
c.432C= (p.Phe144=)
c.6732C= (p.Phe2244=)
Xg.154860495G>TCA414903509F8c.6837C>A (p.Phe2279Leu)
c.570C>A (p.Phe190Leu)
c.432C>A (p.Phe144Leu)
c.6732C>A (p.Phe2244Leu)
 dbSNP
Xg.154860496A>CCA414903520F8c.6836T>G (p.Phe2279Cys)
c.569T>G (p.Phe190Cys)
c.431T>G (p.Phe144Cys)
c.6731T>G (p.Phe2244Cys)
Xg.154860496A>GCA414903521F8c.6836T>C (p.Phe2279Ser)
c.569T>C (p.Phe190Ser)
c.431T>C (p.Phe144Ser)
c.6731T>C (p.Phe2244Ser)
Xg.154860496A>TCA414903522F8c.6836T>A (p.Phe2279Tyr)
c.569T>A (p.Phe190Tyr)
c.431T>A (p.Phe144Tyr)
c.6731T>A (p.Phe2244Tyr)
Xg.154860497A=CA2466814993F8c.6835T= (p.Phe2279=)
c.568T= (p.Phe190=)
c.430T= (p.Phe144=)
c.6730T= (p.Phe2244=)
Xg.154860497A>CCA414903524F8c.6835T>G (p.Phe2279Val)
c.568T>G (p.Phe190Val)
c.430T>G (p.Phe144Val)
c.6730T>G (p.Phe2244Val)
Xg.154860497A>GCA414903528F8c.6835T>C (p.Phe2279Leu)
c.568T>C (p.Phe190Leu)
c.430T>C (p.Phe144Leu)
c.6730T>C (p.Phe2244Leu)
Xg.154860497A>TCA10567754F8c.6835T>A (p.Phe2279Ile)
c.568T>A (p.Phe190Ile)
c.430T>A (p.Phe144Ile)
c.6730T>A (p.Phe2244Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154860498C>ACA414903540F8c.6834G>T (p.Glu2278Asp)
c.567G>T (p.Glu189Asp)
c.429G>T (p.Glu143Asp)
c.6729G>T (p.Glu2243Asp)
 ClinVar dbSNP
Xg.154860498C=CA2466814994F8c.6834G= (p.Glu2278=)
c.567G= (p.Glu189=)
c.429G= (p.Glu143=)
c.6729G= (p.Glu2243=)
Xg.154860498C>GCA414903543F8c.6834G>C (p.Glu2278Asp)
c.567G>C (p.Glu189Asp)
c.429G>C (p.Glu143Asp)
c.6729G>C (p.Glu2243Asp)
Xg.154860498C>TCA519356126F8c.6834G>A (p.Glu2278=)
c.567G>A (p.Glu189=)
c.429G>A (p.Glu143=)
c.6729G>A (p.Glu2243=)
 dbSNP gnomAD v4
Xg.154860499T>ACA414903551F8c.6833A>T (p.Glu2278Val)
c.566A>T (p.Glu189Val)
c.428A>T (p.Glu143Val)
c.6728A>T (p.Glu2243Val)
 COSMIC COSMIC
Xg.154860499T>CCA414903570F8c.6833A>G (p.Glu2278Gly)
c.566A>G (p.Glu189Gly)
c.428A>G (p.Glu143Gly)
c.6728A>G (p.Glu2243Gly)
 dbSNP gnomAD v3 gnomAD v4
Xg.154860499T>GCA414903575F8c.6833A>C (p.Glu2278Ala)
c.566A>C (p.Glu189Ala)
c.428A>C (p.Glu143Ala)
c.6728A>C (p.Glu2243Ala)
 COSMIC COSMIC
Xg.154860499T=CA2466814995F8c.6833A= (p.Glu2278=)
c.566A= (p.Glu189=)
c.428A= (p.Glu143=)
c.6728A= (p.Glu2243=)
Xg.154860500C>ACA414903610F8c.6832G>T (p.Glu2278Ter)
c.565G>T (p.Glu189Ter)
c.427G>T (p.Glu143Ter)
c.6727G>T (p.Glu2243Ter)
Xg.154860500C=CA2466814996F8c.6832G= (p.Glu2278=)
c.565G= (p.Glu189=)
c.427G= (p.Glu143=)
c.6727G= (p.Glu2243=)
Xg.154860500C>GCA337325917F8c.6832G>C (p.Glu2278Gln)
c.565G>C (p.Glu189Gln)
c.427G>C (p.Glu143Gln)
c.6727G>C (p.Glu2243Gln)
 dbSNP gnomAD v4
Xg.154860500C>TCA414903581F8c.6832G>A (p.Glu2278Lys)
c.565G>A (p.Glu189Lys)
c.427G>A (p.Glu143Lys)
c.6727G>A (p.Glu2243Lys)
 dbSNP gnomAD v3 gnomAD v4
Xg.154860501C>ACA414903612F8c.6831G>T (p.Lys2277Asn)
c.564G>T (p.Lys188Asn)
c.426G>T (p.Lys142Asn)
c.6726G>T (p.Lys2242Asn)
Xg.154860501C>GCA414903613F8c.6831G>C (p.Lys2277Asn)
c.564G>C (p.Lys188Asn)
c.426G>C (p.Lys142Asn)
c.6726G>C (p.Lys2242Asn)
Xg.154860501C>TCA519356135F8c.6831G>A (p.Lys2277=)
c.564G>A (p.Lys188=)
c.426G>A (p.Lys142=)
c.6726G>A (p.Lys2242=)
Xg.154860502T>ACA414903619F8c.6830A>T (p.Lys2277Met)
c.563A>T (p.Lys188Met)
c.425A>T (p.Lys142Met)
c.6725A>T (p.Lys2242Met)
Xg.154860502T>CCA414903626F8c.6830A>G (p.Lys2277Arg)
c.563A>G (p.Lys188Arg)
c.425A>G (p.Lys142Arg)
c.6725A>G (p.Lys2242Arg)
Xg.154860502T>GCA414903632F8c.6830A>C (p.Lys2277Thr)
c.563A>C (p.Lys188Thr)
c.425A>C (p.Lys142Thr)
c.6725A>C (p.Lys2242Thr)
 gnomAD v4
Xg.154860503T>ACA414903635F8c.6829A>T (p.Lys2277Ter)
c.562A>T (p.Lys188Ter)
c.424A>T (p.Lys142Ter)
c.6724A>T (p.Lys2242Ter)
Xg.154860503T>CCA414903638F8c.6829A>G (p.Lys2277Glu)
c.562A>G (p.Lys188Glu)
c.424A>G (p.Lys142Glu)
c.6724A>G (p.Lys2242Glu)
Xg.154860503T>GCA414903646F8c.6829A>C (p.Lys2277Gln)
c.562A>C (p.Lys188Gln)
c.424A>C (p.Lys142Gln)
c.6724A>C (p.Lys2242Gln)
Xg.154860503T=CA2466814997F8c.6829A= (p.Lys2277=)
c.562A= (p.Lys188=)
c.424A= (p.Lys142=)
c.6724A= (p.Lys2242=)
Xg.154860504C>ACA519356140F8c.6828G>T (p.Val2276=)
c.561G>T (p.Val187=)
c.423G>T (p.Val141=)
c.6723G>T (p.Val2241=)
Xg.154860504C>GCA519356141F8c.6828G>C (p.Val2276=)
c.561G>C (p.Val187=)
c.423G>C (p.Val141=)
c.6723G>C (p.Val2241=)
Xg.154860504C>TCA519356142F8c.6828G>A (p.Val2276=)
c.561G>A (p.Val187=)
c.423G>A (p.Val141=)
c.6723G>A (p.Val2241=)
 gnomAD v4 COSMIC COSMIC
Xg.154860504dupCA873368334F8c.6828dup (p.Lys2277GlufsTer?)
c.561dup (p.Lys188GlufsTer?)
c.423dup (p.Lys142GlufsTer?)
c.6723dup (p.Lys2242GlufsTer?)
 dbSNP
Xg.154860505A>CCA414903654F8c.6827T>G (p.Val2276Gly)
c.560T>G (p.Val187Gly)
c.422T>G (p.Val141Gly)
c.6722T>G (p.Val2241Gly)
Xg.154860505A>GCA414903663F8c.6827T>C (p.Val2276Ala)
c.560T>C (p.Val187Ala)
c.422T>C (p.Val141Ala)
c.6722T>C (p.Val2241Ala)
Xg.154860505A>TCA414903677F8c.6827T>A (p.Val2276Glu)
c.560T>A (p.Val187Glu)
c.422T>A (p.Val141Glu)
c.6722T>A (p.Val2241Glu)
Xg.154860506C>ACA414903698F8c.6826G>T (p.Val2276Leu)
c.559G>T (p.Val187Leu)
c.421G>T (p.Val141Leu)
c.6721G>T (p.Val2241Leu)
Xg.154860506C=CA2466814998F8c.6826G= (p.Val2276=)
c.559G= (p.Val187=)
c.421G= (p.Val141=)
c.6721G= (p.Val2241=)
Xg.154860506C>GCA414903690F8c.6826G>C (p.Val2276Leu)
c.559G>C (p.Val187Leu)
c.421G>C (p.Val141Leu)
c.6721G>C (p.Val2241Leu)
 dbSNP gnomAD v2 gnomAD v4
Xg.154860506C>TCA414903683F8c.6826G>A (p.Val2276Met)
c.559G>A (p.Val187Met)
c.421G>A (p.Val141Met)
c.6721G>A (p.Val2241Met)
 gnomAD v4
Xg.154860507delCA2695237129F8c.6825del (p.Tyr2275Ter)
c.558del (p.Tyr186Ter)
c.420del (p.Tyr140Ter)
c.6720del (p.Tyr2240Ter)
Xg.154860507A>CCA414903722F8c.6825T>G (p.Tyr2275Ter)
c.558T>G (p.Tyr186Ter)
c.420T>G (p.Tyr140Ter)
c.6720T>G (p.Tyr2240Ter)
Xg.154860507A>GCA519356148F8c.6825T>C (p.Tyr2275=)
c.558T>C (p.Tyr186=)
c.420T>C (p.Tyr140=)
c.6720T>C (p.Tyr2240=)
 gnomAD v4
Xg.154860507A>TCA414903745F8c.6825T>A (p.Tyr2275Ter)
c.558T>A (p.Tyr186Ter)
c.420T>A (p.Tyr140Ter)
c.6720T>A (p.Tyr2240Ter)
 ClinVar
Xg.154860508T>ACA414903750F8c.6824A>T (p.Tyr2275Phe)
c.557A>T (p.Tyr186Phe)
c.419A>T (p.Tyr140Phe)
c.6719A>T (p.Tyr2240Phe)
Xg.154860508T>CCA414903754F8c.6824A>G (p.Tyr2275Cys)
c.557A>G (p.Tyr186Cys)
c.419A>G (p.Tyr140Cys)
c.6719A>G (p.Tyr2240Cys)
Xg.154860508T>GCA414903752F8c.6824A>C (p.Tyr2275Ser)
c.557A>C (p.Tyr186Ser)
c.419A>C (p.Tyr140Ser)
c.6719A>C (p.Tyr2240Ser)
Xg.154860509A=CA2466814999F8c.6823T= (p.Tyr2275=)
c.556T= (p.Tyr186=)
c.418T= (p.Tyr140=)
c.6718T= (p.Tyr2240=)
Xg.154860509A>CCA414903759F8c.6823T>G (p.Tyr2275Asp)
c.556T>G (p.Tyr186Asp)
c.418T>G (p.Tyr140Asp)
c.6718T>G (p.Tyr2240Asp)
Xg.154860509A>GCA414903766F8c.6823T>C (p.Tyr2275His)
c.556T>C (p.Tyr186His)
c.418T>C (p.Tyr140His)
c.6718T>C (p.Tyr2240His)
 dbSNP gnomAD v4
Xg.154860509A>TCA414903772F8c.6823T>A (p.Tyr2275Asn)
c.556T>A (p.Tyr186Asn)
c.418T>A (p.Tyr140Asn)
c.6718T>A (p.Tyr2240Asn)
 dbSNP
Xg.154860509_154860510insACATAAAAAGGTTGATATATGACCAAATTTTCA2560679545F8c.6822_6823insAAAATTTGGTCATATATCAACCTTTTTATGT (p.Tyr2275LysfsTer?)
c.555_556insAAAATTTGGTCATATATCAACCTTTTTATGT (p.Tyr186LysfsTer?)
c.417_418insAAAATTTGGTCATATATCAACCTTTTTATGT (p.Tyr140LysfsTer?)
c.6717_6718insAAAATTTGGTCATATATCAACCTTTTTATGT (p.Tyr2240LysfsTer?)
Xg.154860510C>ACA414903775F8c.6822G>T (p.Met2274Ile)
c.555G>T (p.Met185Ile)
c.417G>T (p.Met139Ile)
c.6717G>T (p.Met2239Ile)
Xg.154860510C>GCA414903803F8c.6822G>C (p.Met2274Ile)
c.555G>C (p.Met185Ile)
c.417G>C (p.Met139Ile)
c.6717G>C (p.Met2239Ile)
Xg.154860510C>TCA414903809F8c.6822G>A (p.Met2274Ile)
c.555G>A (p.Met185Ile)
c.417G>A (p.Met139Ile)
c.6717G>A (p.Met2239Ile)
Xg.154860511A>CCA414903815F8c.6821T>G (p.Met2274Arg)
c.554T>G (p.Met185Arg)
c.416T>G (p.Met139Arg)
c.6716T>G (p.Met2239Arg)
Xg.154860511A>GCA414903819F8c.6821T>C (p.Met2274Thr)
c.554T>C (p.Met185Thr)
c.416T>C (p.Met139Thr)
c.6716T>C (p.Met2239Thr)
 ClinVar
Xg.154860511A>TCA414903826F8c.6821T>A (p.Met2274Lys)
c.554T>A (p.Met185Lys)
c.416T>A (p.Met139Lys)
c.6716T>A (p.Met2239Lys)
Xg.154860512T>ACA414903831F8c.6820A>T (p.Met2274Leu)
c.553A>T (p.Met185Leu)
c.415A>T (p.Met139Leu)
c.6715A>T (p.Met2239Leu)
Xg.154860512T>CCA414903832F8c.6820A>G (p.Met2274Val)
c.553A>G (p.Met185Val)
c.415A>G (p.Met139Val)
c.6715A>G (p.Met2239Val)
 dbSNP
Xg.154860512T>GCA414903834F8c.6820A>C (p.Met2274Leu)
c.553A>C (p.Met185Leu)
c.415A>C (p.Met139Leu)
c.6715A>C (p.Met2239Leu)
Xg.154860512T=CA2466815000F8c.6820A= (p.Met2274=)
c.553A= (p.Met185=)
c.415A= (p.Met139=)
c.6715A= (p.Met2239=)
Xg.154860513G>ACA519356165F8c.6819C>T (p.Ser2273=)
c.552C>T (p.Ser184=)
c.414C>T (p.Ser138=)
c.6714C>T (p.Ser2238=)
Xg.154860513G>CCA414903838F8c.6819C>G (p.Ser2273Arg)
c.552C>G (p.Ser184Arg)
c.414C>G (p.Ser138Arg)
c.6714C>G (p.Ser2238Arg)
Xg.154860513G>TCA414903841F8c.6819C>A (p.Ser2273Arg)
c.552C>A (p.Ser184Arg)
c.414C>A (p.Ser138Arg)
c.6714C>A (p.Ser2238Arg)
Xg.154860514C>ACA414903845F8c.6818G>T (p.Ser2273Ile)
c.551G>T (p.Ser184Ile)
c.413G>T (p.Ser138Ile)
c.6713G>T (p.Ser2238Ile)
 dbSNP gnomAD v2 gnomAD v4
Xg.154860514C=CA2466815001F8c.6818G= (p.Ser2273=)
c.551G= (p.Ser184=)
c.413G= (p.Ser138=)
c.6713G= (p.Ser2238=)
Xg.154860514C>GCA414903846F8c.6818G>C (p.Ser2273Thr)
c.551G>C (p.Ser184Thr)
c.413G>C (p.Ser138Thr)
c.6713G>C (p.Ser2238Thr)
Xg.154860514C>TCA10567755F8c.6818G>A (p.Ser2273Asn)
c.551G>A (p.Ser184Asn)
c.413G>A (p.Ser138Asn)
c.6713G>A (p.Ser2238Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154860515T>ACA414903864F8c.6817A>T (p.Ser2273Cys)
c.550A>T (p.Ser184Cys)
c.412A>T (p.Ser138Cys)
c.6712A>T (p.Ser2238Cys)
Xg.154860515T>CCA414903869F8c.6817A>G (p.Ser2273Gly)
c.550A>G (p.Ser184Gly)
c.412A>G (p.Ser138Gly)
c.6712A>G (p.Ser2238Gly)
 dbSNP gnomAD v4
Xg.154860515T>GCA414903875F8c.6817A>C (p.Ser2273Arg)
c.550A>C (p.Ser184Arg)
c.412A>C (p.Ser138Arg)
c.6712A>C (p.Ser2238Arg)
Xg.154860515T=CA2466815002F8c.6817A= (p.Ser2273=)
c.550A= (p.Ser184=)
c.412A= (p.Ser138=)
c.6712A= (p.Ser2238=)
Xg.154860516G>ACA519356170F8c.6816C>T (p.Thr2272=)
c.549C>T (p.Thr183=)
c.411C>T (p.Thr137=)
c.6711C>T (p.Thr2237=)
Xg.154860516G>CCA519356171F8c.6816C>G (p.Thr2272=)
c.549C>G (p.Thr183=)
c.411C>G (p.Thr137=)
c.6711C>G (p.Thr2237=)
Xg.154860516G>TCA519356172F8c.6816C>A (p.Thr2272=)
c.549C>A (p.Thr183=)
c.411C>A (p.Thr137=)
c.6711C>A (p.Thr2237=)
Xg.154860517delCA519356173F8c.6816del (p.Ser2273AlafsTer4)
c.549del (p.Ser184AlafsTer4)
c.411del (p.Ser138AlafsTer4)
c.6711del (p.Ser2238AlafsTer4)
 COSMIC COSMIC
Xg.154860517G>ACA414903883F8c.6815C>T (p.Thr2272Ile)
c.548C>T (p.Thr183Ile)
c.410C>T (p.Thr137Ile)
c.6710C>T (p.Thr2237Ile)
Xg.154860517G>CCA414903892F8c.6815C>G (p.Thr2272Ser)
c.548C>G (p.Thr183Ser)
c.410C>G (p.Thr137Ser)
c.6710C>G (p.Thr2237Ser)
Xg.154860517G>TCA414903903F8c.6815C>A (p.Thr2272Asn)
c.548C>A (p.Thr183Asn)
c.410C>A (p.Thr137Asn)
c.6710C>A (p.Thr2237Asn)
Xg.154860518T>ACA414903916F8c.6814A>T (p.Thr2272Ser)
c.547A>T (p.Thr183Ser)
c.409A>T (p.Thr137Ser)
c.6709A>T (p.Thr2237Ser)
Xg.154860518T>CCA10567756F8c.6814A>G (p.Thr2272Ala)
c.547A>G (p.Thr183Ala)
c.409A>G (p.Thr137Ala)
c.6709A>G (p.Thr2237Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154860518T>GCA414903910F8c.6814A>C (p.Thr2272Pro)
c.547A>C (p.Thr183Pro)
c.409A>C (p.Thr137Pro)
c.6709A>C (p.Thr2237Pro)
Xg.154860518T=CA2466815003F8c.6814A= (p.Thr2272=)
c.547A= (p.Thr183=)
c.409A= (p.Thr137=)
c.6709A= (p.Thr2237=)
Xg.154860519A>CCA519356186F8c.6813T>G (p.Leu2271=)
c.546T>G (p.Leu182=)
c.408T>G (p.Leu136=)
c.6708T>G (p.Leu2236=)
Xg.154860519A>GCA519356187F8c.6813T>C (p.Leu2271=)
c.546T>C (p.Leu182=)
c.408T>C (p.Leu136=)
c.6708T>C (p.Leu2236=)
Xg.154860519A>TCA519356188F8c.6813T>A (p.Leu2271=)
c.546T>A (p.Leu182=)
c.408T>A (p.Leu136=)
c.6708T>A (p.Leu2236=)
Xg.154860520A=CA2466815004F8c.6812T= (p.Leu2271=)
c.545T= (p.Leu182=)
c.407T= (p.Leu136=)
c.6707T= (p.Leu2236=)
Xg.154860520A>CCA414903922F8c.6812T>G (p.Leu2271Arg)
c.545T>G (p.Leu182Arg)
c.407T>G (p.Leu136Arg)
c.6707T>G (p.Leu2236Arg)
Xg.154860520A>GCA414903929F8c.6812T>C (p.Leu2271Pro)
c.545T>C (p.Leu182Pro)
c.407T>C (p.Leu136Pro)
c.6707T>C (p.Leu2236Pro)
 ClinVar dbSNP
Xg.154860520A>TCA414903934F8c.6812T>A (p.Leu2271His)
c.545T>A (p.Leu182His)
c.407T>A (p.Leu136His)
c.6707T>A (p.Leu2236His)
Xg.154860521G>ACA414903935F8c.6811C>T (p.Leu2271Phe)
c.544C>T (p.Leu182Phe)
c.406C>T (p.Leu136Phe)
c.6706C>T (p.Leu2236Phe)
Xg.154860521G>CCA414903937F8c.6811C>G (p.Leu2271Val)
c.544C>G (p.Leu182Val)
c.406C>G (p.Leu136Val)
c.6706C>G (p.Leu2236Val)
Xg.154860521G>TCA414903939F8c.6811C>A (p.Leu2271Ile)
c.544C>A (p.Leu182Ile)
c.406C>A (p.Leu136Ile)
c.6706C>A (p.Leu2236Ile)
Xg.154860522C>ACA519356195F8c.6810G>T (p.Leu2270=)
c.543G>T (p.Leu181=)
c.405G>T (p.Leu135=)
c.6705G>T (p.Leu2235=)
Xg.154860522C>GCA519356193F8c.6810G>C (p.Leu2270=)
c.543G>C (p.Leu181=)
c.405G>C (p.Leu135=)
c.6705G>C (p.Leu2235=)
Xg.154860522C>TCA519356194F8c.6810G>A (p.Leu2270=)
c.543G>A (p.Leu181=)
c.405G>A (p.Leu135=)
c.6705G>A (p.Leu2235=)
Xg.154860523A>CCA414903945F8c.6809T>G (p.Leu2270Arg)
c.542T>G (p.Leu181Arg)
c.404T>G (p.Leu135Arg)
c.6704T>G (p.Leu2235Arg)
Xg.154860523A>GCA414903954F8c.6809T>C (p.Leu2270Pro)
c.542T>C (p.Leu181Pro)
c.404T>C (p.Leu135Pro)
c.6704T>C (p.Leu2235Pro)
Xg.154860523A>TCA414903971F8c.6809T>A (p.Leu2270Gln)
c.542T>A (p.Leu181Gln)
c.404T>A (p.Leu135Gln)
c.6704T>A (p.Leu2235Gln)
Xg.154860526_154860527delCA2695237130F8c.6808_6809del (p.Leu2270AlafsTer?)
c.541_542del (p.Leu181AlafsTer?)
c.403_404del (p.Leu135AlafsTer?)
c.6703_6704del (p.Leu2235AlafsTer?)
Xg.154860524G>ACA519356198F8c.6808C>T (p.Leu2270=)
c.541C>T (p.Leu181=)
c.403C>T (p.Leu135=)
c.6703C>T (p.Leu2235=)
Xg.154860524G>CCA414903983F8c.6808C>G (p.Leu2270Val)
c.541C>G (p.Leu181Val)
c.403C>G (p.Leu135Val)
c.6703C>G (p.Leu2235Val)
Xg.154860524G>TCA414903997F8c.6808C>A (p.Leu2270Met)
c.541C>A (p.Leu181Met)
c.403C>A (p.Leu135Met)
c.6703C>A (p.Leu2235Met)
Xg.154860525A>CCA519356200F8c.6807T>G (p.Ser2269=)
c.540T>G (p.Ser180=)
c.402T>G (p.Ser134=)
c.6702T>G (p.Ser2234=)
Xg.154860525A>GCA519356201F8c.6807T>C (p.Ser2269=)
c.540T>C (p.Ser180=)
c.402T>C (p.Ser134=)
c.6702T>C (p.Ser2234=)
Xg.154860525A>TCA519356202F8c.6807T>A (p.Ser2269=)
c.540T>A (p.Ser180=)
c.402T>A (p.Ser134=)
c.6702T>A (p.Ser2234=)
Xg.154860526G>ACA414904004F8c.6806C>T (p.Ser2269Phe)
c.539C>T (p.Ser180Phe)
c.401C>T (p.Ser134Phe)
c.6701C>T (p.Ser2234Phe)
Xg.154860526G>CCA414904000F8c.6806C>G (p.Ser2269Cys)
c.539C>G (p.Ser180Cys)
c.401C>G (p.Ser134Cys)
c.6701C>G (p.Ser2234Cys)
Xg.154860526G=CA2466815005F8c.6806C= (p.Ser2269=)
c.539C= (p.Ser180=)
c.401C= (p.Ser134=)
c.6701C= (p.Ser2234=)
Xg.154860526G>TCA414904002F8c.6806C>A (p.Ser2269Tyr)
c.539C>A (p.Ser180Tyr)
c.401C>A (p.Ser134Tyr)
c.6701C>A (p.Ser2234Tyr)
 dbSNP gnomAD v4
Xg.154860527A=CA2466815006F8c.6805T= (p.Ser2269=)
c.538T= (p.Ser180=)
c.400T= (p.Ser134=)
c.6700T= (p.Ser2234=)
Xg.154860527A>CCA414904009F8c.6805T>G (p.Ser2269Ala)
c.538T>G (p.Ser180Ala)
c.400T>G (p.Ser134Ala)
c.6700T>G (p.Ser2234Ala)
Xg.154860527A>GCA414904014F8c.6805T>C (p.Ser2269Pro)
c.538T>C (p.Ser180Pro)
c.400T>C (p.Ser134Pro)
c.6700T>C (p.Ser2234Pro)
 dbSNP gnomAD v4
Xg.154860527A>TCA414904030F8c.6805T>A (p.Ser2269Thr)
c.538T>A (p.Ser180Thr)
c.400T>A (p.Ser134Thr)
c.6700T>A (p.Ser2234Thr)
Xg.154860528T>ACA414904035F8c.6804A>T (p.Lys2268Asn)
c.537A>T (p.Lys179Asn)
c.399A>T (p.Lys133Asn)
c.6699A>T (p.Lys2233Asn)
Xg.154860528T>CCA519356206F8c.6804A>G (p.Lys2268=)
c.537A>G (p.Lys179=)
c.399A>G (p.Lys133=)
c.6699A>G (p.Lys2233=)
Xg.154860528T>GCA414904047F8c.6804A>C (p.Lys2268Asn)
c.537A>C (p.Lys179Asn)
c.399A>C (p.Lys133Asn)
c.6699A>C (p.Lys2233Asn)
Xg.154860531delCA2695237131F8c.6804del (p.Lys2268AsnfsTer9)
c.537del (p.Lys179AsnfsTer9)
c.399del (p.Lys133AsnfsTer9)
c.6699del (p.Lys2233AsnfsTer9)
Xg.154860529T>ACA414904055F8c.6803A>T (p.Lys2268Ile)
c.536A>T (p.Lys179Ile)
c.398A>T (p.Lys133Ile)
c.6698A>T (p.Lys2233Ile)
Xg.154860529T>CCA414904060F8c.6803A>G (p.Lys2268Arg)
c.536A>G (p.Lys179Arg)
c.398A>G (p.Lys133Arg)
c.6698A>G (p.Lys2233Arg)
Xg.154860529T>GCA414904065F8c.6803A>C (p.Lys2268Thr)
c.536A>C (p.Lys179Thr)
c.398A>C (p.Lys133Thr)
c.6698A>C (p.Lys2233Thr)
Xg.154860529T=CA2466815007F8c.6803A= (p.Lys2268=)
c.536A= (p.Lys179=)
c.398A= (p.Lys133=)
c.6698A= (p.Lys2233=)
Xg.154860529_154860530insACA2466815009F8c.6802_6803insT (p.Lys2268IlefsTer?)
c.535_536insT (p.Lys179IlefsTer?)
c.397_398insT (p.Lys133IlefsTer?)
c.6697_6698insT (p.Lys2233IlefsTer?)
 dbSNP
Xg.154860530T>ACA414904076F8c.6802A>T (p.Lys2268Ter)
c.535A>T (p.Lys179Ter)
c.397A>T (p.Lys133Ter)
c.6697A>T (p.Lys2233Ter)
Xg.154860530T>CCA414904083F8c.6802A>G (p.Lys2268Glu)
c.535A>G (p.Lys179Glu)
c.397A>G (p.Lys133Glu)
c.6697A>G (p.Lys2233Glu)
Xg.154860530T>GCA414904093F8c.6802A>C (p.Lys2268Gln)
c.535A>C (p.Lys179Gln)
c.397A>C (p.Lys133Gln)
c.6697A>C (p.Lys2233Gln)
 dbSNP
Xg.154860530T=CA2466815008F8c.6802A= (p.Lys2268=)
c.535A= (p.Lys179=)
c.397A= (p.Lys133=)
c.6697A= (p.Lys2233=)
Xg.154860530delinsAGCA2695237132F8c.6802delinsCT (p.Lys2268LeufsTer?)
c.535delinsCT (p.Lys179LeufsTer?)
c.397delinsCT (p.Lys133LeufsTer?)
c.6697delinsCT (p.Lys2233LeufsTer?)
Xg.154860531T>ACA519356210F8c.6801A>T (p.Val2267=)
c.534A>T (p.Val178=)
c.396A>T (p.Val132=)
c.6696A>T (p.Val2232=)
Xg.154860531T>CCA519356211F8c.6801A>G (p.Val2267=)
c.534A>G (p.Val178=)
c.396A>G (p.Val132=)
c.6696A>G (p.Val2232=)
 gnomAD v4
Xg.154860531T>GCA519356212F8c.6801A>C (p.Val2267=)
c.534A>C (p.Val178=)
c.396A>C (p.Val132=)
c.6696A>C (p.Val2232=)
Xg.154860532A>CCA414904099F8c.6800T>G (p.Val2267Gly)
c.533T>G (p.Val178Gly)
c.395T>G (p.Val132Gly)
c.6695T>G (p.Val2232Gly)
Xg.154860532A>GCA414904105F8c.6800T>C (p.Val2267Ala)
c.533T>C (p.Val178Ala)
c.395T>C (p.Val132Ala)
c.6695T>C (p.Val2232Ala)
Xg.154860532A>TCA414904096F8c.6800T>A (p.Val2267Glu)
c.533T>A (p.Val178Glu)
c.395T>A (p.Val132Glu)
c.6695T>A (p.Val2232Glu)
Xg.154860532dupCA2695237133F8c.6800dup (p.Ser2269IlefsTer?)
c.533dup (p.Ser180IlefsTer?)
c.395dup (p.Ser134IlefsTer?)
c.6695dup (p.Ser2234IlefsTer?)
Xg.154860533C>ACA414904115F8c.6799G>T (p.Val2267Leu)
c.532G>T (p.Val178Leu)
c.394G>T (p.Val132Leu)
c.6694G>T (p.Val2232Leu)
Xg.154860533C>GCA414904106F8c.6799G>C (p.Val2267Leu)
c.532G>C (p.Val178Leu)
c.394G>C (p.Val132Leu)
c.6694G>C (p.Val2232Leu)
Xg.154860533C>TCA414904112F8c.6799G>A (p.Val2267Ile)
c.532G>A (p.Val178Ile)
c.394G>A (p.Val132Ile)
c.6694G>A (p.Val2232Ile)
Xg.154860534T>ACA519356215F8c.6798A>T (p.Gly2266=)
c.531A>T (p.Gly177=)
c.393A>T (p.Gly131=)
c.6693A>T (p.Gly2231=)
Xg.154860534T>CCA519356216F8c.6798A>G (p.Gly2266=)
c.531A>G (p.Gly177=)
c.393A>G (p.Gly131=)
c.6693A>G (p.Gly2231=)
Xg.154860534T>GCA519356217F8c.6798A>C (p.Gly2266=)
c.531A>C (p.Gly177=)
c.393A>C (p.Gly131=)
c.6693A>C (p.Gly2231=)
Xg.154860535C>ACA414904124F8c.6797G>T (p.Gly2266Val)
c.530G>T (p.Gly177Val)
c.392G>T (p.Gly131Val)
c.6692G>T (p.Gly2231Val)
Xg.154860535C>GCA414904130F8c.6797G>C (p.Gly2266Ala)
c.530G>C (p.Gly177Ala)
c.392G>C (p.Gly131Ala)
c.6692G>C (p.Gly2231Ala)
Xg.154860535C>TCA414904136F8c.6797G>A (p.Gly2266Glu)
c.530G>A (p.Gly177Glu)
c.392G>A (p.Gly131Glu)
c.6692G>A (p.Gly2231Glu)
Xg.154860537delCA2695237134F8c.6797del (p.Gly2266GlufsTer2)
c.530del (p.Gly177GlufsTer2)
c.392del (p.Gly131GlufsTer2)
c.6692del (p.Gly2231GlufsTer2)
Xg.154860536C>ACA414904148F8c.6796G>T (p.Gly2266Ter)
c.529G>T (p.Gly177Ter)
c.391G>T (p.Gly131Ter)
c.6691G>T (p.Gly2231Ter)
Xg.154860536C=CA2466815011F8c.6796G= (p.Gly2266=)
c.529G= (p.Gly177=)
c.391G= (p.Gly131=)
c.6691G= (p.Gly2231=)
Xg.154860536C>GCA414904151F8c.6796G>C (p.Gly2266Arg)
c.529G>C (p.Gly177Arg)
c.391G>C (p.Gly131Arg)
c.6691G>C (p.Gly2231Arg)
Xg.154860536C>TCA414904156F8c.6796G>A (p.Gly2266Arg)
c.529G>A (p.Gly177Arg)
c.391G>A (p.Gly131Arg)
c.6691G>A (p.Gly2231Arg)
 dbSNP
Xg.154860536_154860538delinsCCTCA2466815010F8c.6794_6796delinsAGG (p.Gln2265=)
c.527_529delinsAGG (p.Gln176=)
c.389_391delinsAGG (p.Gln130=)
c.6689_6691delinsAGG (p.Gln2230=)
Xg.154860537C>ACA414904162F8c.6795G>T (p.Gln2265His)
c.528G>T (p.Gln176His)
c.390G>T (p.Gln130His)
c.6690G>T (p.Gln2230His)
 dbSNP
Xg.154860537C=CA2466815012F8c.6795G= (p.Gln2265=)
c.528G= (p.Gln176=)
c.390G= (p.Gln130=)
c.6690G= (p.Gln2230=)
Xg.154860537C>GCA414904164F8c.6795G>C (p.Gln2265His)
c.528G>C (p.Gln176His)
c.390G>C (p.Gln130His)
c.6690G>C (p.Gln2230His)
Xg.154860537C>TCA519356223F8c.6795G>A (p.Gln2265=)
c.528G>A (p.Gln176=)
c.390G>A (p.Gln130=)
c.6690G>A (p.Gln2230=)
Xg.154860537_154860538delCA255220F8c.6794_6795del (p.Gln2265ArgfsTer?)
c.527_528del (p.Gln176ArgfsTer?)
c.389_390del (p.Gln130ArgfsTer?)
c.6689_6690del (p.Gln2230ArgfsTer?)
 ClinVar dbSNP
Xg.154860538delCA2695237135F8c.6794del (p.Gln2265ArgfsTer3)
c.527del (p.Gln176ArgfsTer3)
c.389del (p.Gln130ArgfsTer3)
c.6689del (p.Gln2230ArgfsTer3)
Xg.154860538T>ACA414904181F8c.6794A>T (p.Gln2265Leu)
c.527A>T (p.Gln176Leu)
c.389A>T (p.Gln130Leu)
c.6689A>T (p.Gln2230Leu)
Xg.154860538T>CCA255219F8c.6794A>G (p.Gln2265Arg)
c.527A>G (p.Gln176Arg)
c.389A>G (p.Gln130Arg)
c.6689A>G (p.Gln2230Arg)
 ClinVar dbSNP gnomAD v4
Xg.154860538T>GCA414904180F8c.6794A>C (p.Gln2265Pro)
c.527A>C (p.Gln176Pro)
c.389A>C (p.Gln130Pro)
c.6689A>C (p.Gln2230Pro)
Xg.154860538T=CA2466815013F8c.6794A= (p.Gln2265=)
c.527A= (p.Gln176=)
c.389A= (p.Gln130=)
c.6689A= (p.Gln2230=)
Xg.154860539G>ACA414904188F8c.6793C>T (p.Gln2265Ter)
c.526C>T (p.Gln176Ter)
c.388C>T (p.Gln130Ter)
c.6688C>T (p.Gln2230Ter)
Xg.154860539G>CCA414904195F8c.6793C>G (p.Gln2265Glu)
c.526C>G (p.Gln176Glu)
c.388C>G (p.Gln130Glu)
c.6688C>G (p.Gln2230Glu)
 COSMIC COSMIC
Xg.154860539G>TCA414904200F8c.6793C>A (p.Gln2265Lys)
c.526C>A (p.Gln176Lys)
c.388C>A (p.Gln130Lys)
c.6688C>A (p.Gln2230Lys)
Xg.154860540A>CCA519356230F8c.6792T>G (p.Thr2264=)
c.525T>G (p.Thr175=)
c.387T>G (p.Thr129=)
c.6687T>G (p.Thr2229=)
Xg.154860540A>GCA519356227F8c.6792T>C (p.Thr2264=)
c.525T>C (p.Thr175=)
c.387T>C (p.Thr129=)
c.6687T>C (p.Thr2229=)
 gnomAD v4
Xg.154860540A>TCA519356228F8c.6792T>A (p.Thr2264=)
c.525T>A (p.Thr175=)
c.387T>A (p.Thr129=)
c.6687T>A (p.Thr2229=)
Xg.154860541G>ACA414904204F8c.6791C>T (p.Thr2264Ile)
c.524C>T (p.Thr175Ile)
c.386C>T (p.Thr129Ile)
c.6686C>T (p.Thr2229Ile)
 dbSNP
Xg.154860541G>CCA414904206F8c.6791C>G (p.Thr2264Ser)
c.524C>G (p.Thr175Ser)
c.386C>G (p.Thr129Ser)
c.6686C>G (p.Thr2229Ser)
Xg.154860541G=CA2466815014F8c.6791C= (p.Thr2264=)
c.524C= (p.Thr175=)
c.386C= (p.Thr129=)
c.6686C= (p.Thr2229=)
Xg.154860541G>TCA414904208F8c.6791C>A (p.Thr2264Asn)
c.524C>A (p.Thr175Asn)
c.386C>A (p.Thr129Asn)
c.6686C>A (p.Thr2229Asn)
 dbSNP gnomAD v2 gnomAD v4
Xg.154860542T>ACA414904231F8c.6790A>T (p.Thr2264Ser)
c.523A>T (p.Thr175Ser)
c.385A>T (p.Thr129Ser)
c.6685A>T (p.Thr2229Ser)
Xg.154860542T>CCA414904250F8c.6790A>G (p.Thr2264Ala)
c.523A>G (p.Thr175Ala)
c.385A>G (p.Thr129Ala)
c.6685A>G (p.Thr2229Ala)
Xg.154860542T>GCA414904257F8c.6790A>C (p.Thr2264Pro)
c.523A>C (p.Thr175Pro)
c.385A>C (p.Thr129Pro)
c.6685A>C (p.Thr2229Pro)
Xg.154860544_154860547dupCA2695167719F8c.6787_6790dup (p.Thr2264AsnfsTer?)
c.520_523dup (p.Thr175AsnfsTer?)
c.382_385dup (p.Thr129AsnfsTer?)
c.6682_6685dup (p.Thr2229AsnfsTer?)
 gnomAD v4
Xg.154860543A>CCA519356232F8c.6789T>G (p.Thr2263=)
c.522T>G (p.Thr174=)
c.384T>G (p.Thr128=)
c.6684T>G (p.Thr2228=)
Xg.154860543A>GCA519356235F8c.6789T>C (p.Thr2263=)
c.522T>C (p.Thr174=)
c.384T>C (p.Thr128=)
c.6684T>C (p.Thr2228=)
 gnomAD v4
Xg.154860543A>TCA519356234F8c.6789T>A (p.Thr2263=)
c.522T>A (p.Thr174=)
c.384T>A (p.Thr128=)
c.6684T>A (p.Thr2228=)
Xg.154860544G>ACA414904263F8c.6788C>T (p.Thr2263Ile)
c.521C>T (p.Thr174Ile)
c.383C>T (p.Thr128Ile)
c.6683C>T (p.Thr2228Ile)
Xg.154860544G>CCA414904268F8c.6788C>G (p.Thr2263Ser)
c.521C>G (p.Thr174Ser)
c.383C>G (p.Thr128Ser)
c.6683C>G (p.Thr2228Ser)
Xg.154860544G>TCA414904275F8c.6788C>A (p.Thr2263Asn)
c.521C>A (p.Thr174Asn)
c.383C>A (p.Thr128Asn)
c.6683C>A (p.Thr2228Asn)
Xg.154860544_154860546dupCA2695237137F8c.6786_6788dup (p.Thr2263_Thr2264insThr)
c.519_521dup (p.Thr174_Thr175insThr)
c.381_383dup (p.Thr128_Thr129insThr)
c.6681_6683dup (p.Thr2228_Thr2229insThr)
Xg.154860546_154860554delCA2695237136F8c.6780_6788del (p.Gly2261_Thr2263del)
c.513_521del (p.Gly172_Thr174del)
c.375_383del (p.Gly126_Thr128del)
c.6675_6683del (p.Gly2226_Thr2228del)
Xg.154860545T>ACA414904286F8c.6787A>T (p.Thr2263Ser)
c.520A>T (p.Thr174Ser)
c.382A>T (p.Thr128Ser)
c.6682A>T (p.Thr2228Ser)
Xg.154860545T>CCA414904282F8c.6787A>G (p.Thr2263Ala)
c.520A>G (p.Thr174Ala)
c.382A>G (p.Thr128Ala)
c.6682A>G (p.Thr2228Ala)
Xg.154860545T>GCA414904280F8c.6787A>C (p.Thr2263Pro)
c.520A>C (p.Thr174Pro)
c.382A>C (p.Thr128Pro)
c.6682A>C (p.Thr2228Pro)
Xg.154860546T>ACA519356237F8c.6786A>T (p.Val2262=)
c.519A>T (p.Val173=)
c.381A>T (p.Val127=)
c.6681A>T (p.Val2227=)
Xg.154860546T>CCA519356238F8c.6786A>G (p.Val2262=)
c.519A>G (p.Val173=)
c.381A>G (p.Val127=)
c.6681A>G (p.Val2227=)
 dbSNP
Xg.154860546T>GCA519356240F8c.6786A>C (p.Val2262=)
c.519A>C (p.Val173=)
c.381A>C (p.Val127=)
c.6681A>C (p.Val2227=)
Xg.154860546T=CA2466815015F8c.6786A= (p.Val2262=)
c.519A= (p.Val173=)
c.381A= (p.Val127=)
c.6681A= (p.Val2227=)
Xg.154860547A>CCA414904291F8c.6785T>G (p.Val2262Gly)
c.518T>G (p.Val173Gly)
c.380T>G (p.Val127Gly)
c.6680T>G (p.Val2227Gly)
Xg.154860547A>GCA414904293F8c.6785T>C (p.Val2262Ala)
c.518T>C (p.Val173Ala)
c.380T>C (p.Val127Ala)
c.6680T>C (p.Val2227Ala)
Xg.154860547A>TCA414904295F8c.6785T>A (p.Val2262Glu)
c.518T>A (p.Val173Glu)
c.380T>A (p.Val127Glu)
c.6680T>A (p.Val2227Glu)
Xg.154860548C>ACA414904305F8c.6784G>T (p.Val2262Leu)
c.517G>T (p.Val173Leu)
c.379G>T (p.Val127Leu)
c.6679G>T (p.Val2227Leu)
Xg.154860548C>GCA414904329F8c.6784G>C (p.Val2262Leu)
c.517G>C (p.Val173Leu)
c.379G>C (p.Val127Leu)
c.6679G>C (p.Val2227Leu)
Xg.154860548C>TCA414904337F8c.6784G>A (p.Val2262Ile)
c.517G>A (p.Val173Ile)
c.379G>A (p.Val127Ile)
c.6679G>A (p.Val2227Ile)
Xg.154860549T>ACA519356241F8c.6783A>T (p.Gly2261=)
c.516A>T (p.Gly172=)
c.378A>T (p.Gly126=)
c.6678A>T (p.Gly2226=)
Xg.154860549T>CCA519356242F8c.6783A>G (p.Gly2261=)
c.516A>G (p.Gly172=)
c.378A>G (p.Gly126=)
c.6678A>G (p.Gly2226=)
Xg.154860549T>GCA519356244F8c.6783A>C (p.Gly2261=)
c.516A>C (p.Gly172=)
c.378A>C (p.Gly126=)
c.6678A>C (p.Gly2226=)
Xg.154860550C>ACA414904343F8c.6782G>T (p.Gly2261Val)
c.515G>T (p.Gly172Val)
c.377G>T (p.Gly126Val)
c.6677G>T (p.Gly2226Val)
Xg.154860550C>GCA414904358F8c.6782G>C (p.Gly2261Ala)
c.515G>C (p.Gly172Ala)
c.377G>C (p.Gly126Ala)
c.6677G>C (p.Gly2226Ala)
Xg.154860550C>TCA414904362F8c.6782G>A (p.Gly2261Glu)
c.515G>A (p.Gly172Glu)
c.377G>A (p.Gly126Glu)
c.6677G>A (p.Gly2226Glu)
Xg.154860551C>ACA414904371F8c.6781G>T (p.Gly2261Ter)
c.514G>T (p.Gly172Ter)
c.376G>T (p.Gly126Ter)
c.6676G>T (p.Gly2226Ter)
Xg.154860551C>GCA414904373F8c.6781G>C (p.Gly2261Arg)
c.514G>C (p.Gly172Arg)
c.376G>C (p.Gly126Arg)
c.6676G>C (p.Gly2226Arg)
Xg.154860551C>TCA414904375F8c.6781G>A (p.Gly2261Arg)
c.514G>A (p.Gly172Arg)
c.376G>A (p.Gly126Arg)
c.6676G>A (p.Gly2226Arg)
Xg.154860552T>ACA519356245F8c.6780A>T (p.Thr2260=)
c.513A>T (p.Thr171=)
c.375A>T (p.Thr125=)
c.6675A>T (p.Thr2225=)
Xg.154860552T>CCA519356247F8c.6780A>G (p.Thr2260=)
c.513A>G (p.Thr171=)
c.375A>G (p.Thr125=)
c.6675A>G (p.Thr2225=)
Xg.154860552T>GCA519356248F8c.6780A>C (p.Thr2260=)
c.513A>C (p.Thr171=)
c.375A>C (p.Thr125=)
c.6675A>C (p.Thr2225=)
Xg.154860553G>ACA414904382F8c.6779C>T (p.Thr2260Ile)
c.512C>T (p.Thr171Ile)
c.374C>T (p.Thr125Ile)
c.6674C>T (p.Thr2225Ile)
 gnomAD v4
Xg.154860553G>CCA414904378F8c.6779C>G (p.Thr2260Arg)
c.512C>G (p.Thr171Arg)
c.374C>G (p.Thr125Arg)
c.6674C>G (p.Thr2225Arg)
Xg.154860553G>TCA414904380F8c.6779C>A (p.Thr2260Lys)
c.512C>A (p.Thr171Lys)
c.374C>A (p.Thr125Lys)
c.6674C>A (p.Thr2225Lys)
Xg.154860554T>ACA414904385F8c.6778A>T (p.Thr2260Ser)
c.511A>T (p.Thr171Ser)
c.373A>T (p.Thr125Ser)
c.6673A>T (p.Thr2225Ser)
Xg.154860554T>CCA414904387F8c.6778A>G (p.Thr2260Ala)
c.511A>G (p.Thr171Ala)
c.373A>G (p.Thr125Ala)
c.6673A>G (p.Thr2225Ala)
Xg.154860554T>GCA414904388F8c.6778A>C (p.Thr2260Pro)
c.511A>C (p.Thr171Pro)
c.373A>C (p.Thr125Pro)
c.6673A>C (p.Thr2225Pro)

Number of alleles fetched