Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.80104734_80107789delCA658795223GAAc.148_859-11del
ClinVar
17g.80104755C>ACA401360382GAAc.169C>A (p.Gln57Lys)
17g.80104755C=CA2277810619GAAc.169C= (p.Gln57=)
17g.80104755C>GCA401360381GAAc.169C>G (p.Gln57Glu)
gnomAD v3 gnomAD v4
17g.80104755C>TCA16041879GAAc.169C>T (p.Gln57Ter)
ClinVar dbSNP
17g.80104756A=CA2277810620GAAc.170A= (p.Gln57=)
17g.80104756A>CCA401360383GAAc.170A>C (p.Gln57Pro)
17g.80104756A>GCA401360385GAAc.170A>G (p.Gln57Arg)
dbSNP
17g.80104756A>TCA401360384GAAc.170A>T (p.Gln57Leu)
17g.80104757G>ACA502177160GAAc.171G>A (p.Gln57=)
17g.80104757G>CCA401360386GAAc.171G>C (p.Gln57His)
17g.80104757G>TCA401360387GAAc.171G>T (p.Gln57His)
17g.80104758C>ACA401360388GAAc.172C>A (p.Gln58Lys)
17g.80104758C=CA2277810621GAAc.172C= (p.Gln58=)
17g.80104758C>GCA401360389GAAc.172C>G (p.Gln58Glu)
17g.80104758C>TCA274104GAAc.172C>T (p.Gln58Ter)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
17g.80104759A>CCA401360390GAAc.173A>C (p.Gln58Pro)
17g.80104759A>GCA401360391GAAc.173A>G (p.Gln58Arg)
17g.80104759A>TCA401360392GAAc.173A>T (p.Gln58Leu)
17g.80104760G>ACA502177161GAAc.174G>A (p.Gln58=)
gnomAD v4
17g.80104760G>CCA294886669GAAc.174G>C (p.Gln58His)
dbSNP
17g.80104760G=CA2277810622GAAc.174G= (p.Gln58=)
17g.80104760G>TCA401360393GAAc.174G>T (p.Gln58His)
17g.80104761G>ACA401360394GAAc.175G>A (p.Gly59Arg)
17g.80104761G>CCA8814802GAAc.175G>C (p.Gly59Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.80104761G=CA2277810623GAAc.175G= (p.Gly59=)
17g.80104761G>TCA401360395GAAc.175G>T (p.Gly59Ter)
dbSNP gnomAD v3 gnomAD v4
17g.80104762G>ACA8814803GAAc.176G>A (p.Gly59Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.80104762G>CCA401360397GAAc.176G>C (p.Gly59Ala)
17g.80104762G=CA2277810624GAAc.176G= (p.Gly59=)
17g.80104762G>TCA401360396GAAc.176G>T (p.Gly59Val)
17g.80104763A>CCA502177162GAAc.177A>C (p.Gly59=)
17g.80104763A>GCA502177163GAAc.177A>G (p.Gly59=)
17g.80104763A>TCA502177164GAAc.177A>T (p.Gly59=)
17g.80104764G>ACA401360398GAAc.178G>A (p.Ala60Thr)
dbSNP gnomAD v2 gnomAD v4
17g.80104764G>CCA401360399GAAc.178G>C (p.Ala60Pro)
17g.80104764G=CA2277810625GAAc.178G= (p.Ala60=)
17g.80104764G>TCA401360400GAAc.178G>T (p.Ala60Ser)
gnomAD v4
17g.80104765C>ACA401360401GAAc.179C>A (p.Ala60Asp)
dbSNP gnomAD v4
17g.80104765C=CA2277810626GAAc.179C= (p.Ala60=)
17g.80104765C>GCA401360402GAAc.179C>G (p.Ala60Gly)
gnomAD v4
17g.80104765C>TCA401360403GAAc.179C>T (p.Ala60Val)
17g.80104766C>ACA502177165GAAc.180C>A (p.Ala60=)
17g.80104766C=CA2277810627GAAc.180C= (p.Ala60=)
17g.80104766C>GCA502177166GAAc.180C>G (p.Ala60=)
ClinVar dbSNP gnomAD v4
17g.80104766C>TCA502177167GAAc.180C>T (p.Ala60=)
17g.80104767A>CCA401360404GAAc.181A>C (p.Ser61Arg)
17g.80104767A>GCA401360405GAAc.181A>G (p.Ser61Gly)
17g.80104767A>TCA401360406GAAc.181A>T (p.Ser61Cys)
17g.80104768G>ACA401360409GAAc.182G>A (p.Ser61Asn)
17g.80104768G>CCA401360408GAAc.182G>C (p.Ser61Thr)
17g.80104768G>TCA401360407GAAc.182G>T (p.Ser61Ile)
17g.80104769C>ACA401360410GAAc.183C>A (p.Ser61Arg)
dbSNP gnomAD v2
17g.80104769C=CA2277810628GAAc.183C= (p.Ser61=)
17g.80104769C>GCA401360411GAAc.183C>G (p.Ser61Arg)
17g.80104769C>TCA294886678GAAc.183C>T (p.Ser61=)
ClinVar dbSNP
17g.80104770A>CCA502177168GAAc.184A>C (p.Arg62=)
17g.80104770A>GCA401360412GAAc.184A>G (p.Arg62Gly)
17g.80104770A>TCA401360413GAAc.184A>T (p.Arg62Ter)
17g.80104771G>ACA401360414GAAc.185G>A (p.Arg62Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80104771G>CCA401360415GAAc.185G>C (p.Arg62Thr)
17g.80104771G=CA2277810629GAAc.185G= (p.Arg62=)
17g.80104771G>TCA401360416GAAc.185G>T (p.Arg62Ile)
17g.80104772A>CCA401360417GAAc.186A>C (p.Arg62Ser)
17g.80104772A>GCA502177169GAAc.186A>G (p.Arg62=)
dbSNP
17g.80104772A>TCA401360418GAAc.186A>T (p.Arg62Ser)
17g.80104772_80104782dupCA658795224GAAc.186_196dup (p.Arg66HisfsTer?)
17g.80104773C>ACA401360419GAAc.187C>A (p.Pro63Thr)
17g.80104773C>GCA401360420GAAc.187C>G (p.Pro63Ala)
17g.80104773C>TCA401360421GAAc.187C>T (p.Pro63Ser)
gnomAD v4
17g.80104774C>ACA401360424GAAc.188C>A (p.Pro63Gln)
gnomAD v4
17g.80104774C=CA2277810630GAAc.188C= (p.Pro63=)
17g.80104774C>GCA401360422GAAc.188C>G (p.Pro63Arg)
17g.80104774C>TCA401360423GAAc.188C>T (p.Pro63Leu)
dbSNP gnomAD v2
17g.80104775A=CA2277810631GAAc.189A= (p.Pro63=)
17g.80104775A>CCA502177173GAAc.189A>C (p.Pro63=)
ClinVar
17g.80104775A>GCA502177172GAAc.189A>G (p.Pro63=)
dbSNP gnomAD v3 gnomAD v4
17g.80104775A>TCA502177171GAAc.189A>T (p.Pro63=)
17g.80104776G>ACA401360425GAAc.190G>A (p.Gly64Arg)
17g.80104776G>CCA401360426GAAc.190G>C (p.Gly64Arg)
17g.80104776G>TCA401360427GAAc.190G>T (p.Gly64Trp)
COSMIC
17g.80104777G>ACA294886682GAAc.191G>A (p.Gly64Glu)
dbSNP
17g.80104777G>CCA401360428GAAc.191G>C (p.Gly64Ala)
17g.80104777G=CA2277810632GAAc.191G= (p.Gly64=)
17g.80104777G>TCA401360429GAAc.191G>T (p.Gly64Val)
17g.80104778G>ACA502177175GAAc.192G>A (p.Gly64=)
gnomAD v4
17g.80104778G>CCA502177176GAAc.192G>C (p.Gly64=)
17g.80104778G>TCA502177177GAAc.192G>T (p.Gly64=)
17g.80104779C>ACA401360430GAAc.193C>A (p.Pro65Thr)
dbSNP
17g.80104779C=CA2277810633GAAc.193C= (p.Pro65=)
17g.80104779C>GCA401360431GAAc.193C>G (p.Pro65Ala)
17g.80104779C>TCA401360432GAAc.193C>T (p.Pro65Ser)
ClinVar dbSNP gnomAD v4
17g.80104780C>ACA401360433GAAc.194C>A (p.Pro65His)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80104780C=CA2277810634GAAc.194C= (p.Pro65=)
17g.80104780C>GCA401360434GAAc.194C>G (p.Pro65Arg)
gnomAD v4
17g.80104780C>TCA401360435GAAc.194C>T (p.Pro65Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.80104781C>ACA502177178GAAc.195C>A (p.Pro65=)
17g.80104781C>GCA502177179GAAc.195C>G (p.Pro65=)
17g.80104781C>TCA502177180GAAc.195C>T (p.Pro65=)
17g.80104782C>ACA502177181GAAc.196C>A (p.Arg66=)
17g.80104782C=CA2277810635GAAc.196C= (p.Arg66=)
17g.80104782C>GCA401360436GAAc.196C>G (p.Arg66Gly)
gnomAD v4
17g.80104782C>TCA294886701GAAc.196C>T (p.Arg66Trp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80104783G>ACA8814804GAAc.197G>A (p.Arg66Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80104783G>CCA401360437GAAc.197G>C (p.Arg66Pro)
17g.80104783G=CA2277810636GAAc.197G= (p.Arg66=)
17g.80104783G>TCA401360438GAAc.197G>T (p.Arg66Leu)
17g.80104785delCA2499224997GAAc.199del (p.Asp67MetfsTer?)
ClinVar dbSNP
17g.80104784G>ACA502177182GAAc.198G>A (p.Arg66=)
ClinVar dbSNP
17g.80104784G>CCA502177183GAAc.198G>C (p.Arg66=)
17g.80104784G>TCA502177184GAAc.198G>T (p.Arg66=)
17g.80104785G>ACA401360439GAAc.199G>A (p.Asp67Asn)
17g.80104785G>CCA401360440GAAc.199G>C (p.Asp67His)
17g.80104785G>TCA401360441GAAc.199G>T (p.Asp67Tyr)
17g.80104786A>CCA401360442GAAc.200A>C (p.Asp67Ala)
17g.80104786A>GCA401360443GAAc.200A>G (p.Asp67Gly)
17g.80104786A>TCA401360444GAAc.200A>T (p.Asp67Val)
17g.80104787T>ACA401360445GAAc.201T>A (p.Asp67Glu)
17g.80104787T>CCA502177185GAAc.201T>C (p.Asp67=)
17g.80104787T>GCA401360446GAAc.201T>G (p.Asp67Glu)
17g.80104788G>ACA401360447GAAc.202G>A (p.Ala68Thr)
17g.80104788G>CCA401360448GAAc.202G>C (p.Ala68Pro)
17g.80104788G=CA2277810637GAAc.202G= (p.Ala68=)
17g.80104788G>TCA401360449GAAc.202G>T (p.Ala68Ser)
dbSNP gnomAD v4
17g.80104789C>ACA401360452GAAc.203C>A (p.Ala68Asp)
17g.80104789C>GCA401360451GAAc.203C>G (p.Ala68Gly)
17g.80104789C>TCA401360450GAAc.203C>T (p.Ala68Val)
gnomAD v4
17g.80104791delCA645599493GAAc.205del (p.Gln69ArgfsTer?)
COSMIC
17g.80104790C>ACA502177186GAAc.204C>A (p.Ala68=)
17g.80104790C>GCA502177187GAAc.204C>G (p.Ala68=)
17g.80104790C>TCA502177188GAAc.204C>T (p.Ala68=)
ClinVar dbSNP
17g.80104791C>ACA401360453GAAc.205C>A (p.Gln69Lys)
17g.80104791C=CA2277810638GAAc.205C= (p.Gln69=)
17g.80104791C>GCA8814805GAAc.205C>G (p.Gln69Glu)
ClinVar dbSNP ExAC gnomAD v4
17g.80104791C>TCA8814806GAAc.205C>T (p.Gln69Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.80104792A=CA2277810639GAAc.206A= (p.Gln69=)
17g.80104792A>CCA401360454GAAc.206A>C (p.Gln69Pro)
17g.80104792A>GCA8814807GAAc.206A>G (p.Gln69Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80104792A>TCA401360455GAAc.206A>T (p.Gln69Leu)
17g.80104793G>ACA502177192GAAc.207G>A (p.Gln69=)
ClinVar dbSNP
17g.80104793G>CCA401360456GAAc.207G>C (p.Gln69His)
17g.80104793G=CA2277810640GAAc.207G= (p.Gln69=)
17g.80104793G>TCA401360457GAAc.207G>T (p.Gln69His)
17g.80104794G>ACA401360458GAAc.208G>A (p.Ala70Thr)
17g.80104794G>CCA401360459GAAc.208G>C (p.Ala70Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80104794G=CA2277810641GAAc.208G= (p.Ala70=)
17g.80104794G>TCA401360460GAAc.208G>T (p.Ala70Ser)
17g.80104795C>ACA8814808GAAc.209C>A (p.Ala70Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80104795C=CA2277810642GAAc.209C= (p.Ala70=)
17g.80104795C>GCA401360461GAAc.209C>G (p.Ala70Gly)
17g.80104795C>TCA401360462GAAc.209C>T (p.Ala70Val)
17g.80104796A>CCA502402163GAAc.210A>C (p.Ala70=)
17g.80104796A>GCA502402164GAAc.210A>G (p.Ala70=)
17g.80104796A>TCA502402165GAAc.210A>T (p.Ala70=)
17g.80104797C>ACA401360464GAAc.211C>A (p.His71Asn)
17g.80104797C>GCA401360465GAAc.211C>G (p.His71Asp)
17g.80104797C>TCA401360463GAAc.211C>T (p.His71Tyr)
gnomAD v4
17g.80104798A=CA2277810643GAAc.212A= (p.His71=)
17g.80104798A>CCA401360466GAAc.212A>C (p.His71Pro)
17g.80104798A>GCA8814809GAAc.212A>G (p.His71Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80104798A>TCA401360467GAAc.212A>T (p.His71Leu)
17g.80104799C>ACA8814810GAAc.213C>A (p.His71Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80104799C=CA2277810644GAAc.213C= (p.His71=)
17g.80104799C>GCA401360468GAAc.213C>G (p.His71Gln)
17g.80104799C>TCA502402166GAAc.213C>T (p.His71=)
ClinVar dbSNP gnomAD v4
17g.80104800C>ACA294886764GAAc.214C>A (p.Pro72Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80104800C=CA2277810645GAAc.214C= (p.Pro72=)
17g.80104800C>GCA401360469GAAc.214C>G (p.Pro72Ala)
17g.80104800C>TCA401360470GAAc.214C>T (p.Pro72Ser)
gnomAD v4
17g.80104801C>ACA401360471GAAc.215C>A (p.Pro72His)
17g.80104801C>GCA401360472GAAc.215C>G (p.Pro72Arg)
17g.80104801C>TCA401360473GAAc.215C>T (p.Pro72Leu)
17g.80104802C>ACA502402167GAAc.216C>A (p.Pro72=)
gnomAD v4
17g.80104802C=CA2277810646GAAc.216C= (p.Pro72=)
17g.80104802C>GCA502402168GAAc.216C>G (p.Pro72=)
gnomAD v4
17g.80104802C>TCA8814811GAAc.216C>T (p.Pro72=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80104803G>ACA8814813GAAc.217G>A (p.Gly73Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80104803G>CCA401360474GAAc.217G>C (p.Gly73Arg)
17g.80104803G=CA2277810647GAAc.217G= (p.Gly73=)
17g.80104803G>TCA401360475GAAc.217G>T (p.Gly73Cys)
ClinVar dbSNP
17g.80104804dupCA8814812GAAc.218dup (p.Arg74ProfsTer22)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.80104804G>ACA401360476GAAc.218G>A (p.Gly73Asp)
17g.80104804G>CCA401360477GAAc.218G>C (p.Gly73Ala)
17g.80104804G>TCA401360478GAAc.218G>T (p.Gly73Val)
17g.80104805C>ACA502402169GAAc.219C>A (p.Gly73=)
17g.80104805C>GCA502402170GAAc.219C>G (p.Gly73=)
17g.80104805C>TCA502402171GAAc.219C>T (p.Gly73=)
COSMIC
17g.80104806C>ACA401360479GAAc.220C>A (p.Arg74Ser)
17g.80104806C=CA2277810648GAAc.220C= (p.Arg74=)
17g.80104806C>GCA401360480GAAc.220C>G (p.Arg74Gly)
17g.80104806C>TCA401360481GAAc.220C>T (p.Arg74Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80104807G>ACA8814814GAAc.221G>A (p.Arg74His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80104807G>CCA8814815GAAc.221G>C (p.Arg74Pro)
dbSNP ExAC gnomAD v4
17g.80104807G=CA2277810649GAAc.221G= (p.Arg74=)
17g.80104807G>TCA401360482GAAc.221G>T (p.Arg74Leu)
gnomAD v4
17g.80104808T>ACA502402174GAAc.222T>A (p.Arg74=)
17g.80104808T>CCA502402172GAAc.222T>C (p.Arg74=)
17g.80104808T>GCA502402173GAAc.222T>G (p.Arg74=)
17g.80104809C>ACA401360483GAAc.223C>A (p.Pro75Thr)
17g.80104809C=CA2277810650GAAc.223C= (p.Pro75=)
17g.80104809C>GCA401360484GAAc.223C>G (p.Pro75Ala)
17g.80104809C>TCA8814816GAAc.223C>T (p.Pro75Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80104810C>ACA401360486GAAc.224C>A (p.Pro75His)
17g.80104810C=CA2277810651GAAc.224C= (p.Pro75=)
17g.80104810C>GCA401360487GAAc.224C>G (p.Pro75Arg)
ClinVar dbSNP
17g.80104810C>TCA401360485GAAc.224C>T (p.Pro75Leu)
17g.80104811C>ACA502402175GAAc.225C>A (p.Pro75=)
17g.80104811C>GCA502402176GAAc.225C>G (p.Pro75=)
17g.80104811C>TCA502402177GAAc.225C>T (p.Pro75=)
17g.80104812A>CCA502402178GAAc.226A>C (p.Arg76=)
17g.80104812A>GCA401360488GAAc.226A>G (p.Arg76Gly)
17g.80104812A>TCA401360489GAAc.226A>T (p.Arg76Ter)
17g.80104813G>ACA401360490GAAc.227G>A (p.Arg76Lys)
17g.80104813G>CCA401360492GAAc.227G>C (p.Arg76Thr)
gnomAD v4
17g.80104813G=CA2277810652GAAc.227G= (p.Arg76=)
17g.80104813G>TCA401360491GAAc.227G>T (p.Arg76Ile)
gnomAD v4
17g.80104814A=CA2277810653GAAc.228A= (p.Arg76=)
17g.80104814A>CCA401360493GAAc.228A>C (p.Arg76Ser)
17g.80104814A>GCA502402179GAAc.228A>G (p.Arg76=)
17g.80104814A>TCA401360494GAAc.228A>T (p.Arg76Ser)
17g.80104816_80104818dupCA775508124GAAc.230_232dup (p.Ala77_Val78insAla)
dbSNP gnomAD v3 gnomAD v4
17g.80104814_80104815insAGCCA1139665915GAAc.228_229insAGC (p.Arg76_Ala77insSer)
17g.80104815G>ACA401360495GAAc.229G>A (p.Ala77Thr)
17g.80104815G>CCA8814817GAAc.229G>C (p.Ala77Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.80104815G=CA2277810654GAAc.229G= (p.Ala77=)
17g.80104815G>TCA401360496GAAc.229G>T (p.Ala77Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80104815_80104826delinsGCAGTGCCCACACA2277810655GAAc.229_240delinsGCAGTGCCCACA (p.Ala77=)
17g.80104816C>ACA401360497GAAc.230C>A (p.Ala77Glu)
17g.80104816C=CA2277810656GAAc.230C= (p.Ala77=)
17g.80104816C>GCA401360498GAAc.230C>G (p.Ala77Gly)
17g.80104816C>TCA401360499GAAc.230C>T (p.Ala77Val)
dbSNP gnomAD v3 gnomAD v4
17g.80104822_80104832delCA16041880GAAc.236_246del (p.Pro79ArgfsTer13)
ClinVar dbSNP
17g.80104817A=CA2277810657GAAc.231A= (p.Ala77=)
17g.80104817A>CCA502402180GAAc.231A>C (p.Ala77=)
17g.80104817A>GCA8814818GAAc.231A>G (p.Ala77=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80104817A>TCA502402181GAAc.231A>T (p.Ala77=)
17g.80104818G>ACA401360500GAAc.232G>A (p.Val78Met)
17g.80104818G>CCA401360501GAAc.232G>C (p.Val78Leu)
17g.80104818G>TCA401360502GAAc.232G>T (p.Val78Leu)
17g.80104819T>ACA401360505GAAc.233T>A (p.Val78Glu)
17g.80104819T>CCA401360504GAAc.233T>C (p.Val78Ala)
gnomAD v4
17g.80104819T>GCA401360503GAAc.233T>G (p.Val78Gly)
gnomAD v4
17g.80104820G>ACA502402182GAAc.234G>A (p.Val78=)
17g.80104820G>CCA502402183GAAc.234G>C (p.Val78=)
17g.80104820G=CA2277810658GAAc.234G= (p.Val78=)
17g.80104820G>TCA502402184GAAc.234G>T (p.Val78=)
ClinVar dbSNP
17g.80104821C>ACA401360506GAAc.235C>A (p.Pro79Thr)
17g.80104821C=CA2277810659GAAc.235C= (p.Pro79=)
17g.80104821C>GCA401360507GAAc.235C>G (p.Pro79Ala)
17g.80104821C>TCA8814819GAAc.235C>T (p.Pro79Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80104822C>ACA401360508GAAc.236C>A (p.Pro79His)
17g.80104822C>GCA401360509GAAc.236C>G (p.Pro79Arg)
17g.80104822C>TCA401360510GAAc.236C>T (p.Pro79Leu)
17g.80104823C>ACA502402185GAAc.237C>A (p.Pro79=)
17g.80104823C=CA2277810660GAAc.237C= (p.Pro79=)
17g.80104823C>GCA502402186GAAc.237C>G (p.Pro79=)
17g.80104823C>TCA502402187GAAc.237C>T (p.Pro79=)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.80104824A>CCA401360511GAAc.238A>C (p.Thr80Pro)
17g.80104824A>GCA401360512GAAc.238A>G (p.Thr80Ala)
17g.80104824A>TCA401360513GAAc.238A>T (p.Thr80Ser)
17g.80104825C>ACA401360514GAAc.239C>A (p.Thr80Lys)
17g.80104825C>GCA401360515GAAc.239C>G (p.Thr80Arg)
17g.80104825C>TCA401360516GAAc.239C>T (p.Thr80Ile)
gnomAD v4
17g.80104826A=CA2277810661GAAc.240A= (p.Thr80=)
17g.80104826A>CCA502402188GAAc.240A>C (p.Thr80=)
gnomAD v4
17g.80104826A>GCA8814820GAAc.240A>G (p.Thr80=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80104826A>TCA502402189GAAc.240A>T (p.Thr80=)
17g.80104827C>ACA401360519GAAc.241C>A (p.Gln81Lys)
17g.80104827C=CA2277810662GAAc.241C= (p.Gln81=)
17g.80104827C>GCA401360517GAAc.241C>G (p.Gln81Glu)
17g.80104827C>TCA401360518GAAc.241C>T (p.Gln81Ter)
ClinVar dbSNP gnomAD v4
17g.80104828delCA2739265767GAAc.242del (p.Gln81ArgfsTer?)
ClinVar
17g.80104828A=CA2277810663GAAc.242A= (p.Gln81=)
17g.80104828A>CCA401360520GAAc.242A>C (p.Gln81Pro)
17g.80104828A>GCA401360521GAAc.242A>G (p.Gln81Arg)
dbSNP
17g.80104828A>TCA401360522GAAc.242A>T (p.Gln81Leu)
17g.80104829G>ACA502402190GAAc.243G>A (p.Gln81=)
17g.80104829G>CCA401360523GAAc.243G>C (p.Gln81His)
17g.80104829G=CA2277810664GAAc.243G= (p.Gln81=)
17g.80104829G>TCA401360524GAAc.243G>T (p.Gln81His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80104830T>ACA401360525GAAc.244T>A (p.Cys82Ser)
17g.80104830T>CCA401360526GAAc.244T>C (p.Cys82Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.80104830T>GCA401360527GAAc.244T>G (p.Cys82Gly)
gnomAD v4
17g.80104830T=CA2277810665GAAc.244T= (p.Cys82=)
17g.80104831G>ACA401360528GAAc.245G>A (p.Cys82Tyr)
17g.80104831G>CCA401360529GAAc.245G>C (p.Cys82Ser)
17g.80104831G>TCA401360530GAAc.245G>T (p.Cys82Phe)
17g.80104832C>ACA401360532GAAc.246C>A (p.Cys82Ter)
ClinVar dbSNP
17g.80104832C=CA2277810666GAAc.246C= (p.Cys82=)
17g.80104832C>GCA401360531GAAc.246C>G (p.Cys82Trp)
17g.80104832C>TCA8814821GAAc.246C>T (p.Cys82=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80104833G>ACA8814822GAAc.247G>A (p.Asp83Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80104833G>CCA401360533GAAc.247G>C (p.Asp83His)
17g.80104833G=CA2277810667GAAc.247G= (p.Asp83=)
17g.80104833G>TCA401360534GAAc.247G>T (p.Asp83Tyr)
17g.80104834A=CA2277810668GAAc.248A= (p.Asp83=)
17g.80104834A>CCA401360535GAAc.248A>C (p.Asp83Ala)
17g.80104834A>GCA401360536GAAc.248A>G (p.Asp83Gly)
17g.80104834A>TCA8814823GAAc.248A>T (p.Asp83Val)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.80104835C>ACA401360537GAAc.249C>A (p.Asp83Glu)
17g.80104835C=CA2277810669GAAc.249C= (p.Asp83=)
17g.80104835C>GCA401360538GAAc.249C>G (p.Asp83Glu)
17g.80104835C>TCA8814824GAAc.249C>T (p.Asp83=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80104836G>ACA8814825GAAc.250G>A (p.Val84Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80104836G>CCA401360539GAAc.250G>C (p.Val84Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80104836G=CA2277810670GAAc.250G= (p.Val84=)
17g.80104836G>TCA401360540GAAc.250G>T (p.Val84Phe)
17g.80104837T>ACA401360541GAAc.251T>A (p.Val84Asp)
17g.80104837T>CCA401360543GAAc.251T>C (p.Val84Ala)
COSMIC
17g.80104837T>GCA401360542GAAc.251T>G (p.Val84Gly)
dbSNP gnomAD v2 gnomAD v4
17g.80104837T=CA2277810672GAAc.251T= (p.Val84=)
17g.80104837_80104838delCA913014076GAAc.251_252del (p.Val84AlafsTer11)
17g.80104837_80104838delinsTCCA2277810671GAAc.251_252delinsTC (p.Val84=)
17g.80104838C>ACA294886919GAAc.252C>A (p.Val84=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80104838C=CA2277810673GAAc.252C= (p.Val84=)
17g.80104838C>GCA502402191GAAc.252C>G (p.Val84=)
17g.80104838C>TCA8814827GAAc.252C>T (p.Val84=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80104844dupCA8814826GAAc.258dup (p.Asn87GlnfsTer9)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.80104844delCA502402192GAAc.258del (p.Asn87ThrfsTer?)
ClinVar dbSNP gnomAD v4 COSMIC
17g.80104839C>ACA401360544GAAc.253C>A (p.Pro85Thr)
17g.80104839C>GCA401360545GAAc.253C>G (p.Pro85Ala)
17g.80104839C>TCA401360546GAAc.253C>T (p.Pro85Ser)
COSMIC
17g.80104840C>ACA401360547GAAc.254C>A (p.Pro85His)
17g.80104840C>GCA401360548GAAc.254C>G (p.Pro85Arg)
17g.80104840C>TCA401360549GAAc.254C>T (p.Pro85Leu)
17g.80104841C>ACA502402193GAAc.255C>A (p.Pro85=)
17g.80104841C=CA2277810674GAAc.255C= (p.Pro85=)
17g.80104841C>GCA502402194GAAc.255C>G (p.Pro85=)
ClinVar dbSNP gnomAD v4
17g.80104841C>TCA502402195GAAc.255C>T (p.Pro85=)
dbSNP gnomAD v2
17g.80104842C>ACA401360550GAAc.256C>A (p.Pro86Thr)
dbSNP
17g.80104842C>GCA401360551GAAc.256C>G (p.Pro86Ala)
gnomAD v4
17g.80104842C>TCA401360552GAAc.256C>T (p.Pro86Ser)
dbSNP gnomAD v4
17g.80104843C>ACA294886928GAAc.257C>A (p.Pro86His)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.80104843C=CA1139532164GAAc.257C= (p.Pro86=)
17g.80104843C>GCA8814828GAAc.257C>G (p.Pro86Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80104843C>TCA401360553GAAc.257C>T (p.Pro86Leu)
17g.80104844C>ACA8814829GAAc.258C>A (p.Pro86=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80104844C=CA2277810675GAAc.258C= (p.Pro86=)
17g.80104844C>GCA502402197GAAc.258C>G (p.Pro86=)
ClinVar
17g.80104844C>TCA502402196GAAc.258C>T (p.Pro86=)
17g.80104845A=CA2277810676GAAc.259A= (p.Asn87=)
17g.80104845A>CCA8814830GAAc.259A>C (p.Asn87His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80104845A>GCA401360555GAAc.259A>G (p.Asn87Asp)
17g.80104845A>TCA401360554GAAc.259A>T (p.Asn87Tyr)
17g.80104846A=CA2277810677GAAc.260A= (p.Asn87=)
17g.80104846A>CCA8814831GAAc.260A>C (p.Asn87Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.80104846A>GCA401360556GAAc.260A>G (p.Asn87Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80104846A>TCA401360557GAAc.260A>T (p.Asn87Ile)
17g.80104847C>ACA401360558GAAc.261C>A (p.Asn87Lys)
17g.80104847C=CA2277810678GAAc.261C= (p.Asn87=)
17g.80104847C>GCA294886998GAAc.261C>G (p.Asn87Lys)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.80104847C>TCA502402198GAAc.261C>T (p.Asn87=)
dbSNP gnomAD v2 gnomAD v4
17g.80104848A=CA2277810679GAAc.262A= (p.Ser88=)
17g.80104848A>CCA401360559GAAc.262A>C (p.Ser88Arg)
17g.80104848A>GCA401360560GAAc.262A>G (p.Ser88Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80104848A>TCA401360561GAAc.262A>T (p.Ser88Cys)
17g.80104849G>ACA401360562GAAc.263G>A (p.Ser88Asn)
17g.80104849G>CCA401360563GAAc.263G>C (p.Ser88Thr)
17g.80104849G>TCA401360564GAAc.263G>T (p.Ser88Ile)
17g.80104850C>ACA401360565GAAc.264C>A (p.Ser88Arg)
17g.80104850C=CA2277810680GAAc.264C= (p.Ser88=)
17g.80104850C>GCA401360566GAAc.264C>G (p.Ser88Arg)
ClinVar dbSNP
17g.80104850C>TCA502402199GAAc.264C>T (p.Ser88=)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.80104851C>ACA401360567GAAc.265C>A (p.Arg89Ser)
ClinVar gnomAD v4
17g.80104851C=CA2277810681GAAc.265C= (p.Arg89=)
17g.80104851C>GCA401360568GAAc.265C>G (p.Arg89Gly)
17g.80104851C>TCA8814832GAAc.265C>T (p.Arg89Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80104852G>ACA8814833GAAc.266G>A (p.Arg89His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80104852G>CCA401360569GAAc.266G>C (p.Arg89Pro)
17g.80104852G=CA2277810682GAAc.266G= (p.Arg89=)
17g.80104852G>TCA401360570GAAc.266G>T (p.Arg89Leu)
ClinVar
17g.80104853C>ACA502402200GAAc.267C>A (p.Arg89=)
17g.80104853C=CA2277810683GAAc.267C= (p.Arg89=)
17g.80104853C>GCA502402201GAAc.267C>G (p.Arg89=)
17g.80104853C>TCA502402202GAAc.267C>T (p.Arg89=)
ClinVar dbSNP
17g.80104854T>ACA401360571GAAc.268T>A (p.Phe90Ile)
ClinVar dbSNP gnomAD v4
17g.80104854T>CCA8814834GAAc.268T>C (p.Phe90Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80104854T>GCA401360572GAAc.268T>G (p.Phe90Val)
17g.80104854T=CA2277810684GAAc.268T= (p.Phe90=)
17g.80104855T>ACA401360573GAAc.269T>A (p.Phe90Tyr)
17g.80104855T>CCA401360574GAAc.269T>C (p.Phe90Ser)
17g.80104855T>GCA401360575GAAc.269T>G (p.Phe90Cys)

Number of alleles fetched