Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.80104734_80107789delCA658795223GAAc.148_859-11del
ClinVar
17g.80105010_80105026delCA658795228GAAc.424_440del (p.Ser142LeufsTer29)
ClinVar
17g.80105011G>ACA8814870GAAc.425G>A (p.Ser142Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80105011G>CCA401361257GAAc.425G>C (p.Ser142Thr)
17g.80105011G=CA2277810777GAAc.425G= (p.Ser142=)
17g.80105011G>TCA401361259GAAc.425G>T (p.Ser142Ile)
17g.80105011_80105014delinsGCTCCA2277810778GAAc.425_428delinsGCTC (p.Ser142=)
17g.80105012C>ACA8814871GAAc.426C>A (p.Ser142Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80105012C=CA2277810779GAAc.426C= (p.Ser142=)
17g.80105012C>GCA401361267GAAc.426C>G (p.Ser142Arg)
COSMIC
17g.80105012C>TCA502402295GAAc.426C>T (p.Ser142=)
dbSNP
17g.80105015_80105017delCA986720993GAAc.429_431del (p.Ser144del)
dbSNP gnomAD v3 gnomAD v4
17g.80105013T>ACA401361282GAAc.427T>A (p.Ser143Thr)
gnomAD v4
17g.80105013T>CCA401361271GAAc.427T>C (p.Ser143Pro)
dbSNP gnomAD v2
17g.80105013T>GCA401361278GAAc.427T>G (p.Ser143Ala)
ClinVar dbSNP gnomAD v4
17g.80105013T=CA2277810780GAAc.427T= (p.Ser143=)
17g.80105014C>ACA401361285GAAc.428C>A (p.Ser143Tyr)
17g.80105014C=CA2277810781GAAc.428C= (p.Ser143=)
17g.80105014C>GCA401361288GAAc.428C>G (p.Ser143Cys)
dbSNP
17g.80105014C>TCA401361290GAAc.428C>T (p.Ser143Phe)
gnomAD v4
17g.80105015C>ACA502402298GAAc.429C>A (p.Ser143=)
gnomAD v4
17g.80105015C=CA2277810782GAAc.429C= (p.Ser143=)
17g.80105015C>GCA502402299GAAc.429C>G (p.Ser143=)
dbSNP
17g.80105015C>TCA502402300GAAc.429C>T (p.Ser143=)
gnomAD v4
17g.80105016T>ACA401361295GAAc.430T>A (p.Ser144Thr)
17g.80105016T>CCA401361297GAAc.430T>C (p.Ser144Pro)
17g.80105016T>GCA401361301GAAc.430T>G (p.Ser144Ala)
17g.80105017C>ACA401361310GAAc.431C>A (p.Ser144Tyr)
17g.80105017C>GCA401361307GAAc.431C>G (p.Ser144Cys)
17g.80105017C>TCA401361304GAAc.431C>T (p.Ser144Phe)
17g.80105018T>ACA502402306GAAc.432T>A (p.Ser144=)
17g.80105018T>CCA502402303GAAc.432T>C (p.Ser144=)
17g.80105018T>GCA502402304GAAc.432T>G (p.Ser144=)
17g.80105019G>ACA401361317GAAc.433G>A (p.Glu145Lys)
ClinVar dbSNP gnomAD v4
17g.80105019G>CCA401361314GAAc.433G>C (p.Glu145Gln)
17g.80105019G>TCA401361319GAAc.433G>T (p.Glu145Ter)
17g.80105020A>CCA401361325GAAc.434A>C (p.Glu145Ala)
17g.80105020A>GCA401361331GAAc.434A>G (p.Glu145Gly)
17g.80105020A>TCA401361327GAAc.434A>T (p.Glu145Val)
17g.80105021A=CA2277810783GAAc.435A= (p.Glu145=)
17g.80105021A>CCA401361335GAAc.435A>C (p.Glu145Asp)
17g.80105021A>GCA502402310GAAc.435A>G (p.Glu145=)
17g.80105021A>TCA8814872GAAc.435A>T (p.Glu145Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80105022A>CCA401361340GAAc.436A>C (p.Met146Leu)
17g.80105022A>GCA401361343GAAc.436A>G (p.Met146Val)
gnomAD v4
17g.80105022A>TCA401361345GAAc.436A>T (p.Met146Leu)
17g.80105022_80105023delCA913014082GAAc.436_437del (p.Met146GlyfsTer30)
17g.80105022_80105023delinsATCA2277810784GAAc.436_437delinsAT (p.Met146=)
17g.80105023delCA658824775GAAc.437del (p.Met146ArgfsTer7)
ClinVar dbSNP gnomAD v4
17g.80105023T>ACA401361353GAAc.437T>A (p.Met146Lys)
17g.80105023T>CCA401361355GAAc.437T>C (p.Met146Thr)
17g.80105023T>GCA401361360GAAc.437T>G (p.Met146Arg)
17g.80105024G>ACA401361364GAAc.438G>A (p.Met146Ile)
17g.80105024G>CCA401361366GAAc.438G>C (p.Met146Ile)
17g.80105024G=CA2277810785GAAc.438G= (p.Met146=)
17g.80105024G>TCA401361370GAAc.438G>T (p.Met146Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80105025G>ACA401361382GAAc.439G>A (p.Gly147Ser)
COSMIC
17g.80105025G>CCA401361378GAAc.439G>C (p.Gly147Arg)
17g.80105025G>TCA401361376GAAc.439G>T (p.Gly147Cys)
17g.80105026G>ACA401361386GAAc.440G>A (p.Gly147Asp)
17g.80105026G>CCA401361388GAAc.440G>C (p.Gly147Ala)
17g.80105026G>TCA401361391GAAc.440G>T (p.Gly147Val)
17g.80105027C>ACA502402315GAAc.441C>A (p.Gly147=)
17g.80105027C>GCA502402317GAAc.441C>G (p.Gly147=)
17g.80105027C>TCA502402319GAAc.441C>T (p.Gly147=)
17g.80105028T>ACA401361395GAAc.442T>A (p.Tyr148Asn)
17g.80105028T>CCA401361396GAAc.442T>C (p.Tyr148His)
17g.80105028T>GCA401361399GAAc.442T>G (p.Tyr148Asp)
17g.80105029A>CCA401361404GAAc.443A>C (p.Tyr148Ser)
17g.80105029A>GCA401361407GAAc.443A>G (p.Tyr148Cys)
17g.80105029A>TCA401361410GAAc.443A>T (p.Tyr148Phe)
17g.80105030C>ACA401361413GAAc.444C>A (p.Tyr148Ter)
17g.80105030C=CA2277810786GAAc.444C= (p.Tyr148=)
17g.80105030C>GCA401361416GAAc.444C>G (p.Tyr148Ter)
ClinVar dbSNP
17g.80105030C>TCA10605123GAAc.444C>T (p.Tyr148=)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.80105031A>CCA401361429GAAc.445A>C (p.Thr149Pro)
17g.80105031A>GCA401361426GAAc.445A>G (p.Thr149Ala)
gnomAD v4
17g.80105031A>TCA401361423GAAc.445A>T (p.Thr149Ser)
17g.80105032C>ACA401361436GAAc.446C>A (p.Thr149Lys)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.80105032C=CA2277810787GAAc.446C= (p.Thr149=)
17g.80105032C>GCA401361432GAAc.446C>G (p.Thr149Arg)
17g.80105032C>TCA8814873GAAc.446C>T (p.Thr149Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80105032dupCA913014083GAAc.446dup (p.Ala150GlyfsTer27)
17g.80105033G>ACA152919GAAc.447G>A (p.Thr149=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80105033G>CCA502402324GAAc.447G>C (p.Thr149=)
17g.80105033G=CA2277810788GAAc.447G= (p.Thr149=)
17g.80105033G>TCA502402326GAAc.447G>T (p.Thr149=)
17g.80105034dupCA658824776GAAc.448dup (p.Ala150GlyfsTer27)
ClinVar dbSNP
17g.80105034G>ACA294887248GAAc.448G>A (p.Ala150Thr)
ClinVar dbSNP gnomAD v4
17g.80105034G>CCA401361445GAAc.448G>C (p.Ala150Pro)
17g.80105034G=CA2277810789GAAc.448G= (p.Ala150=)
17g.80105034G>TCA401361448GAAc.448G>T (p.Ala150Ser)
17g.80105035C>ACA401361452GAAc.449C>A (p.Ala150Asp)
17g.80105035C=CA2277810790GAAc.449C= (p.Ala150=)
17g.80105035C>GCA294887253GAAc.449C>G (p.Ala150Gly)
dbSNP
17g.80105035C>TCA401361459GAAc.449C>T (p.Ala150Val)
gnomAD v4
17g.80105036C>ACA502402330GAAc.450C>A (p.Ala150=)
17g.80105036C=CA2277810791GAAc.450C= (p.Ala150=)
17g.80105036C>GCA8814874GAAc.450C>G (p.Ala150=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80105036C>TCA502402333GAAc.450C>T (p.Ala150=)
gnomAD v4
17g.80105037A=CA2277810792GAAc.451A= (p.Thr151=)
17g.80105037A>CCA401361465GAAc.451A>C (p.Thr151Pro)
17g.80105037A>GCA401361468GAAc.451A>G (p.Thr151Ala)
dbSNP gnomAD v4
17g.80105037A>TCA401361469GAAc.451A>T (p.Thr151Ser)
dbSNP
17g.80105038C>ACA401361474GAAc.452C>A (p.Thr151Asn)
17g.80105038C=CA2277810793GAAc.452C= (p.Thr151=)
17g.80105038C>GCA401361470GAAc.452C>G (p.Thr151Ser)
17g.80105038C>TCA401361472GAAc.452C>T (p.Thr151Ile)
ClinVar dbSNP gnomAD v4
17g.80105040dupCA294887290GAAc.454dup (p.Leu152ProfsTer25)
dbSNP
17g.80105039C>ACA502402336GAAc.453C>A (p.Thr151=)
17g.80105039C=CA2277810794GAAc.453C= (p.Thr151=)
17g.80105039C>GCA502402334GAAc.453C>G (p.Thr151=)
17g.80105039C>TCA502402335GAAc.453C>T (p.Thr151=)
dbSNP gnomAD v2
17g.80105040C>ACA401361476GAAc.454C>A (p.Leu152Met)
17g.80105040C>GCA401361478GAAc.454C>G (p.Leu152Val)
ClinVar dbSNP gnomAD v4
17g.80105040C>TCA502402337GAAc.454C>T (p.Leu152=)
17g.80105041T>ACA401361481GAAc.455T>A (p.Leu152Gln)
17g.80105041T>CCA401361484GAAc.455T>C (p.Leu152Pro)
gnomAD v4
17g.80105041T>GCA401361487GAAc.455T>G (p.Leu152Arg)
17g.80105042_80105048delCA913014084GAAc.456_462del (p.Thr153ProfsTer11)
17g.80105042G>ACA502402339GAAc.456G>A (p.Leu152=)
17g.80105042G>CCA502402341GAAc.456G>C (p.Leu152=)
ClinVar dbSNP
17g.80105042G=CA2277810795GAAc.456G= (p.Leu152=)
17g.80105042G>TCA502402343GAAc.456G>T (p.Leu152=)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.80105042_80105043dupCA2573154927GAAc.456_457dup (p.Thr153ArgfsTer14)
ClinVar dbSNP
17g.80105042_80105048delinsGACCCGTCA2277810796GAAc.456_462delinsGACCCGT (p.Leu152=)
17g.80105042_80105051delinsGACCCGTACCCA2277810797GAAc.456_465delinsGACCCGTACC (p.Leu152=)
17g.80105043A>CCA401361490GAAc.457A>C (p.Thr153Pro)
17g.80105043A>GCA401361493GAAc.457A>G (p.Thr153Ala)
gnomAD v4
17g.80105043A>TCA401361496GAAc.457A>T (p.Thr153Ser)
17g.80105043_80105045delCA2695227064GAAc.457_459del (p.Thr153del)
17g.80105046_80105051delCA658795230GAAc.460_465del (p.Arg154_Thr155del)
ClinVar dbSNP
17g.80105047_80105055delCA658795229GAAc.461_469del (p.Arg154_Thr156del)
ClinVar dbSNP
17g.80105044C>ACA401361500GAAc.458C>A (p.Thr153Asn)
gnomAD v4
17g.80105044C>GCA401361503GAAc.458C>G (p.Thr153Ser)
17g.80105044C>TCA401361506GAAc.458C>T (p.Thr153Ile)
17g.80105045C>ACA502402346GAAc.459C>A (p.Thr153=)
17g.80105045C=CA2277810798GAAc.459C= (p.Thr153=)
17g.80105045C>GCA8814875GAAc.459C>G (p.Thr153=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80105045C>TCA502402347GAAc.459C>T (p.Thr153=)
17g.80105046C>ACA401361512GAAc.460C>A (p.Arg154Ser)
COSMIC
17g.80105046C=CA2277810799GAAc.460C= (p.Arg154=)
17g.80105046C>GCA401361515GAAc.460C>G (p.Arg154Gly)
17g.80105046C>TCA8814876GAAc.460C>T (p.Arg154Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80105047G>ACA8814877GAAc.461G>A (p.Arg154His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80105047G>CCA401361525GAAc.461G>C (p.Arg154Pro)
ClinVar dbSNP gnomAD v4
17g.80105047G=CA2277810800GAAc.461G= (p.Arg154=)
17g.80105047G>TCA401361522GAAc.461G>T (p.Arg154Leu)
dbSNP gnomAD v4 COSMIC
17g.80105048T>ACA502402351GAAc.462T>A (p.Arg154=)
17g.80105048T>CCA502402352GAAc.462T>C (p.Arg154=)
COSMIC
17g.80105048T>GCA502402353GAAc.462T>G (p.Arg154=)
17g.80105049A>CCA401361530GAAc.463A>C (p.Thr155Pro)
17g.80105049A>GCA401361533GAAc.463A>G (p.Thr155Ala)
17g.80105049A>TCA401361536GAAc.463A>T (p.Thr155Ser)
17g.80105050C>ACA401361539GAAc.464C>A (p.Thr155Asn)
17g.80105050C>GCA401361542GAAc.464C>G (p.Thr155Ser)
17g.80105050C>TCA401361544GAAc.464C>T (p.Thr155Ile)
17g.80105051dupCA2695200350GAAc.465dup (p.Thr156HisfsTer21)
ClinVar
17g.80105051C>ACA502402355GAAc.465C>A (p.Thr155=)
17g.80105051C>GCA502402357GAAc.465C>G (p.Thr155=)
17g.80105051C>TCA502402356GAAc.465C>T (p.Thr155=)
gnomAD v4
17g.80105052A=CA2277810801GAAc.466A= (p.Thr156=)
17g.80105052A>CCA401361552GAAc.466A>C (p.Thr156Pro)
dbSNP
17g.80105052A>GCA401361555GAAc.466A>G (p.Thr156Ala)
17g.80105052A>TCA401361558GAAc.466A>T (p.Thr156Ser)
ClinVar dbSNP gnomAD v4
17g.80105052dupCA2640275967GAAc.466dup (p.Thr156AsnfsTer21)
gnomAD v4
17g.80105052_80105053delinsACCA2277810802GAAc.466_467delinsAC (p.Thr156=)
17g.80105053C>ACA401361562GAAc.467C>A (p.Thr156Asn)
ClinVar dbSNP
17g.80105053C=CA2277810803GAAc.467C= (p.Thr156=)
17g.80105053C>GCA401361565GAAc.467C>G (p.Thr156Ser)
dbSNP gnomAD v2 gnomAD v4
17g.80105053C>TCA401361571GAAc.467C>T (p.Thr156Ile)
ClinVar dbSNP
17g.80105057dupCA2640275982GAAc.471dup (p.Thr158HisfsTer19)
gnomAD v4
17g.80105057delCA16041883GAAc.471del (p.Thr158ProfsTer8)
ClinVar dbSNP
17g.80105054C>ACA502402445GAAc.468C>A (p.Thr156=)
dbSNP
17g.80105054C=CA2277810804GAAc.468C= (p.Thr156=)
17g.80105054C>GCA502402446GAAc.468C>G (p.Thr156=)
ClinVar dbSNP
17g.80105054C>TCA10606807GAAc.468C>T (p.Thr156=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80105055C>ACA401361583GAAc.469C>A (p.Pro157Thr)
17g.80105055C=CA2277810805GAAc.469C= (p.Pro157=)
17g.80105055C>GCA401361579GAAc.469C>G (p.Pro157Ala)
17g.80105055C>TCA401361581GAAc.469C>T (p.Pro157Ser)
dbSNP gnomAD v2 gnomAD v4
17g.80105056C>ACA401361584GAAc.470C>A (p.Pro157His)
17g.80105056C>GCA401361586GAAc.470C>G (p.Pro157Arg)
17g.80105056C>TCA401361589GAAc.470C>T (p.Pro157Leu)
gnomAD v4
17g.80105056_80105057insAAACACACCCAACACA2810576314GAAc.470_471insAAACACACCCAACA (p.Thr158AsnfsTer13)
17g.80105057C>ACA502402450GAAc.471C>A (p.Pro157=)
17g.80105057C=CA2277810806GAAc.471C= (p.Pro157=)
17g.80105057C>GCA502402451GAAc.471C>G (p.Pro157=)
17g.80105057C>TCA8814878GAAc.471C>T (p.Pro157=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80105058A=CA2277810807GAAc.472A= (p.Thr158=)
17g.80105058A>CCA401361593GAAc.472A>C (p.Thr158Pro)
dbSNP
17g.80105058A>GCA401361595GAAc.472A>G (p.Thr158Ala)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.80105058A>TCA401361597GAAc.472A>T (p.Thr158Ser)
17g.80105059C>ACA401361602GAAc.473C>A (p.Thr158Asn)
gnomAD v4
17g.80105059C>GCA401361604GAAc.473C>G (p.Thr158Ser)
17g.80105059C>TCA401361600GAAc.473C>T (p.Thr158Ile)
gnomAD v4
17g.80105060C>ACA502402463GAAc.474C>A (p.Thr158=)
17g.80105060C>GCA502402461GAAc.474C>G (p.Thr158=)
17g.80105060C>TCA502402462GAAc.474C>T (p.Thr158=)
17g.80105061T>ACA401361607GAAc.475T>A (p.Phe159Ile)
17g.80105061T>CCA401361608GAAc.475T>C (p.Phe159Leu)
17g.80105061T>GCA401361611GAAc.475T>G (p.Phe159Val)
17g.80105062T>ACA401361614GAAc.476T>A (p.Phe159Tyr)
17g.80105062T>CCA401361616GAAc.476T>C (p.Phe159Ser)
17g.80105062T>GCA401361618GAAc.476T>G (p.Phe159Cys)
17g.80105063C>ACA401361620GAAc.477C>A (p.Phe159Leu)
17g.80105063C=CA2277810808GAAc.477C= (p.Phe159=)
17g.80105063C>GCA401361619GAAc.477C>G (p.Phe159Leu)
dbSNP gnomAD v2
17g.80105063C>TCA502402468GAAc.477C>T (p.Phe159=)
gnomAD v4
17g.80105064T>ACA401361621GAAc.478T>A (p.Phe160Ile)
17g.80105064T>CCA401361622GAAc.478T>C (p.Phe160Leu)
gnomAD v4
17g.80105064T>GCA401361623GAAc.478T>G (p.Phe160Val)
17g.80105065T>ACA401361624GAAc.479T>A (p.Phe160Tyr)
17g.80105065T>CCA401361625GAAc.479T>C (p.Phe160Ser)
17g.80105065T>GCA401361626GAAc.479T>G (p.Phe160Cys)
17g.80105065_80105067delinsTCCCA2277810809GAAc.479_481delinsTCC (p.Phe160=)
17g.80105066C>ACA401361627GAAc.480C>A (p.Phe160Leu)
17g.80105066C=CA2277810810GAAc.480C= (p.Phe160=)
17g.80105066C>GCA401361628GAAc.480C>G (p.Phe160Leu)
17g.80105066C>TCA502402471GAAc.480C>T (p.Phe160=)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.80105069dupCA658795231GAAc.483dup (p.Lys162GlnfsTer15)
17g.80105068_80105069delCA8814879GAAc.482_483del (p.Pro161GlnfsTer15)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80105067C>ACA401361629GAAc.481C>A (p.Pro161Thr)
17g.80105067C>GCA401361630GAAc.481C>G (p.Pro161Ala)
17g.80105067C>TCA401361631GAAc.481C>T (p.Pro161Ser)
17g.80105068C>ACA294887341GAAc.482C>A (p.Pro161His)
ClinVar dbSNP gnomAD v4
17g.80105068C=CA2277810811GAAc.482C= (p.Pro161=)
17g.80105068C>GCA401361632GAAc.482C>G (p.Pro161Arg)
17g.80105068C>TCA401361633GAAc.482C>T (p.Pro161Leu)
17g.80105069C>ACA502402478GAAc.483C>A (p.Pro161=)
17g.80105069C=CA2277810812GAAc.483C= (p.Pro161=)
17g.80105069C>GCA502402479GAAc.483C>G (p.Pro161=)
COSMIC
17g.80105069C>TCA502402480GAAc.483C>T (p.Pro161=)
dbSNP
17g.80105070A>CCA401361634GAAc.484A>C (p.Lys162Gln)
17g.80105070A>GCA401361635GAAc.484A>G (p.Lys162Glu)
17g.80105070A>TCA401361636GAAc.484A>T (p.Lys162Ter)
17g.80105071A=CA2277810813GAAc.485A= (p.Lys162=)
17g.80105071A>CCA401361637GAAc.485A>C (p.Lys162Thr)
17g.80105071A>GCA401361638GAAc.485A>G (p.Lys162Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.80105071A>TCA401361639GAAc.485A>T (p.Lys162Met)
17g.80105072G>ACA502402482GAAc.486G>A (p.Lys162=)
17g.80105072G>CCA401361641GAAc.486G>C (p.Lys162Asn)
17g.80105072G>TCA401361640GAAc.486G>T (p.Lys162Asn)
17g.80105073G>ACA401361642GAAc.487G>A (p.Asp163Asn)
ClinVar dbSNP gnomAD v4
17g.80105073G>CCA401361644GAAc.487G>C (p.Asp163His)
17g.80105073G=CA2277810814GAAc.487G= (p.Asp163=)
17g.80105073G>TCA401361643GAAc.487G>T (p.Asp163Tyr)
gnomAD v4
17g.80105076_80105110delCA2695200351GAAc.490_524del (p.Ile164Ter)
ClinVar
17g.80105074A=CA2277810815GAAc.488A= (p.Asp163=)
17g.80105074A>CCA401361645GAAc.488A>C (p.Asp163Ala)
17g.80105074A>GCA401361646GAAc.488A>G (p.Asp163Gly)
gnomAD v4
17g.80105074A>TCA8814880GAAc.488A>T (p.Asp163Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80105075C>ACA401361647GAAc.489C>A (p.Asp163Glu)
17g.80105075C>GCA401361648GAAc.489C>G (p.Asp163Glu)
17g.80105075C>TCA502402491GAAc.489C>T (p.Asp163=)
gnomAD v4
17g.80105076A=CA2277810816GAAc.490A= (p.Ile164=)
17g.80105076A>CCA401361649GAAc.490A>C (p.Ile164Leu)
17g.80105076A>GCA401361650GAAc.490A>G (p.Ile164Val)
17g.80105076A>TCA401361651GAAc.490A>T (p.Ile164Phe)
dbSNP
17g.80105077T>ACA401361652GAAc.491T>A (p.Ile164Asn)
17g.80105077T>CCA401361653GAAc.491T>C (p.Ile164Thr)
gnomAD v4
17g.80105077T>GCA401361654GAAc.491T>G (p.Ile164Ser)
17g.80105078C>ACA502402503GAAc.492C>A (p.Ile164=)
17g.80105078C>GCA401361655GAAc.492C>G (p.Ile164Met)
17g.80105078C>TCA502402498GAAc.492C>T (p.Ile164=)
17g.80105079C>ACA401361657GAAc.493C>A (p.Leu165Met)
17g.80105079C>GCA401361656GAAc.493C>G (p.Leu165Val)
17g.80105079C>TCA502402506GAAc.493C>T (p.Leu165=)
ClinVar
17g.80105080T>ACA401361658GAAc.494T>A (p.Leu165Gln)
17g.80105080T>CCA401361659GAAc.494T>C (p.Leu165Pro)
dbSNP
17g.80105080T>GCA401361660GAAc.494T>G (p.Leu165Arg)
gnomAD v4
17g.80105080T=CA2277810817GAAc.494T= (p.Leu165=)
17g.80105081G>ACA502402508GAAc.495G>A (p.Leu165=)
17g.80105081G>CCA502402511GAAc.495G>C (p.Leu165=)
17g.80105081G>TCA502402509GAAc.495G>T (p.Leu165=)
gnomAD v4
17g.80105082A>CCA401361661GAAc.496A>C (p.Thr166Pro)
17g.80105082A>GCA401361662GAAc.496A>G (p.Thr166Ala)
17g.80105082A>TCA401361663GAAc.496A>T (p.Thr166Ser)
17g.80105083C>ACA401361666GAAc.497C>A (p.Thr166Asn)
17g.80105083C>GCA401361664GAAc.497C>G (p.Thr166Ser)
17g.80105083C>TCA401361665GAAc.497C>T (p.Thr166Ile)
ClinVar
17g.80105084C>ACA502402516GAAc.498C>A (p.Thr166=)
17g.80105084C=CA2277810818GAAc.498C= (p.Thr166=)
17g.80105084C>GCA502402518GAAc.498C>G (p.Thr166=)
dbSNP gnomAD v3 gnomAD v4
17g.80105084C>TCA502402519GAAc.498C>T (p.Thr166=)
ClinVar gnomAD v4
17g.80105085C>ACA401361667GAAc.499C>A (p.Leu167Met)
17g.80105085C>GCA401361668GAAc.499C>G (p.Leu167Val)
17g.80105085C>TCA502402521GAAc.499C>T (p.Leu167=)
ClinVar
17g.80105086T>ACA401361669GAAc.500T>A (p.Leu167Gln)
gnomAD v4
17g.80105086T>CCA401361670GAAc.500T>C (p.Leu167Pro)
17g.80105086T>GCA401361671GAAc.500T>G (p.Leu167Arg)
17g.80105087G>ACA502402524GAAc.501G>A (p.Leu167=)
ClinVar dbSNP
17g.80105087G>CCA502402526GAAc.501G>C (p.Leu167=)
17g.80105087G=CA2277810819GAAc.501G= (p.Leu167=)
17g.80105087G>TCA502402525GAAc.501G>T (p.Leu167=)
17g.80105087_80105088delinsAACA2573154928GAAc.501_502delinsAA (p.Leu167=)
ClinVar dbSNP
17g.80105088C>ACA8814881GAAc.502C>A (p.Arg168=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80105088C=CA2277810820GAAc.502C= (p.Arg168=)
17g.80105088C>GCA401361672GAAc.502C>G (p.Arg168Gly)
17g.80105088C>TCA8814882GAAc.502C>T (p.Arg168Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80105089G>ACA8814884GAAc.503G>A (p.Arg168Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80105089G>CCA401361673GAAc.503G>C (p.Arg168Pro)
ClinVar dbSNP
17g.80105089G=CA2277810821GAAc.503G= (p.Arg168=)
17g.80105089G>TCA8814883GAAc.503G>T (p.Arg168Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80105090G>ACA502402532GAAc.504G>A (p.Arg168=)
17g.80105090G>CCA502402533GAAc.504G>C (p.Arg168=)
17g.80105090G>TCA502402534GAAc.504G>T (p.Arg168=)
ClinVar gnomAD v4
17g.80105091C>ACA401361677GAAc.505C>A (p.Leu169Met)
17g.80105091C>GCA401361680GAAc.505C>G (p.Leu169Val)
17g.80105091C>TCA502402537GAAc.505C>T (p.Leu169=)
17g.80105092T>ACA401361687GAAc.506T>A (p.Leu169Gln)
17g.80105092T>CCA401361685GAAc.506T>C (p.Leu169Pro)
ClinVar
17g.80105092T>GCA401361683GAAc.506T>G (p.Leu169Arg)
17g.80105093G>ACA502402541GAAc.507G>A (p.Leu169=)
gnomAD v4
17g.80105093G>CCA502402542GAAc.507G>C (p.Leu169=)
17g.80105093G=CA2277810822GAAc.507G= (p.Leu169=)
17g.80105093G>TCA502402543GAAc.507G>T (p.Leu169=)
dbSNP gnomAD v2 gnomAD v4
17g.80105094G>ACA401361691GAAc.508G>A (p.Asp170Asn)
17g.80105094G>CCA401361693GAAc.508G>C (p.Asp170His)
17g.80105094G>TCA401361695GAAc.508G>T (p.Asp170Tyr)
17g.80105095A=CA2277810823GAAc.509A= (p.Asp170=)
17g.80105095A>CCA401361698GAAc.509A>C (p.Asp170Ala)
17g.80105095A>GCA294887359GAAc.509A>G (p.Asp170Gly)
dbSNP gnomAD v4
17g.80105095A>TCA401361702GAAc.509A>T (p.Asp170Val)
17g.80105096C>ACA401361705GAAc.510C>A (p.Asp170Glu)
dbSNP
17g.80105096C=CA2277810824GAAc.510C= (p.Asp170=)
17g.80105096C>GCA401361704GAAc.510C>G (p.Asp170Glu)
17g.80105096C>TCA8814885GAAc.510C>T (p.Asp170=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80105097delCA2573054600GAAc.511del (p.Val171Ter)
ClinVar dbSNP
17g.80105097G>ACA10651252GAAc.511G>A (p.Val171Met)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80105097G>CCA401361709GAAc.511G>C (p.Val171Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.80105097G=CA2277810825GAAc.511G= (p.Val171=)
17g.80105097G>TCA401361711GAAc.511G>T (p.Val171Leu)
17g.80105098T>ACA401361714GAAc.512T>A (p.Val171Glu)
17g.80105098T>CCA401361716GAAc.512T>C (p.Val171Ala)
17g.80105098T>GCA401361718GAAc.512T>G (p.Val171Gly)
17g.80105103_80105105delCA891862611GAAc.517_519del (p.Met173del)
17g.80105099G>ACA502402552GAAc.513G>A (p.Val171=)
17g.80105099G>CCA502402553GAAc.513G>C (p.Val171=)
ClinVar dbSNP gnomAD v2
17g.80105099G=CA2277810826GAAc.513G= (p.Val171=)
17g.80105099G>TCA502402554GAAc.513G>T (p.Val171=)
gnomAD v4
17g.80105100A=CA2277810827GAAc.514A= (p.Met172=)
17g.80105100A>CCA401361722GAAc.514A>C (p.Met172Leu)
17g.80105100A>GCA401361724GAAc.514A>G (p.Met172Val)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.80105100A>TCA401361726GAAc.514A>T (p.Met172Leu)
gnomAD v4
17g.80105101delCA2640276230GAAc.515del (p.Met172ArgfsTer?)
gnomAD v4
17g.80105101T>ACA401361729GAAc.515T>A (p.Met172Lys)
dbSNP gnomAD v2 gnomAD v4
17g.80105101T>CCA401361732GAAc.515T>C (p.Met172Thr)
ClinVar gnomAD v4
17g.80105101T>GCA401361733GAAc.515T>G (p.Met172Arg)
17g.80105101T=CA2277810828GAAc.515T= (p.Met172=)
17g.80105102G>ACA401361736GAAc.516G>A (p.Met172Ile)
gnomAD v4
17g.80105102G>CCA401361741GAAc.516G>C (p.Met172Ile)
17g.80105102G=CA2277810829GAAc.516G= (p.Met172=)
17g.80105102G>TCA401361738GAAc.516G>T (p.Met172Ile)
dbSNP gnomAD v2 gnomAD v4
17g.80105103A=CA2277810830GAAc.517A= (p.Met173=)
17g.80105103A>CCA401361744GAAc.517A>C (p.Met173Leu)
17g.80105103A>GCA401361748GAAc.517A>G (p.Met173Val)
dbSNP gnomAD v2 gnomAD v4
17g.80105103A>TCA401361746GAAc.517A>T (p.Met173Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80105104T>ACA401361750GAAc.518T>A (p.Met173Lys)
17g.80105104T>CCA401361752GAAc.518T>C (p.Met173Thr)
gnomAD v4
17g.80105104T>GCA401361755GAAc.518T>G (p.Met173Arg)
17g.80105106_80105112delCA2739265768GAAc.520_526del (p.Glu174ArgfsTer?)
ClinVar
17g.80105105G>ACA401361758GAAc.519G>A (p.Met173Ile)
17g.80105105G>CCA401361760GAAc.519G>C (p.Met173Ile)
17g.80105105G>TCA401361761GAAc.519G>T (p.Met173Ile)
17g.80105106G>ACA401361764GAAc.520G>A (p.Glu174Lys)
COSMIC
17g.80105106G>CCA401361765GAAc.520G>C (p.Glu174Gln)
17g.80105106G>TCA401361768GAAc.520G>T (p.Glu174Ter)
gnomAD v4
17g.80105107A>CCA401361770GAAc.521A>C (p.Glu174Ala)
17g.80105107A>GCA401361772GAAc.521A>G (p.Glu174Gly)
17g.80105107A>TCA401361774GAAc.521A>T (p.Glu174Val)
gnomAD v4
17g.80105108G>ACA502402566GAAc.522G>A (p.Glu174=)
ClinVar
17g.80105108G>CCA401361777GAAc.522G>C (p.Glu174Asp)
17g.80105108G=CA2277810831GAAc.522G= (p.Glu174=)
17g.80105108G>TCA8814886GAAc.522G>T (p.Glu174Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80105109A>CCA401361781GAAc.523A>C (p.Thr175Pro)
17g.80105109A>GCA401361783GAAc.523A>G (p.Thr175Ala)
17g.80105109A>TCA401361785GAAc.523A>T (p.Thr175Ser)
17g.80105110C>ACA401361789GAAc.524C>A (p.Thr175Asn)
17g.80105110C=CA2277810833GAAc.524C= (p.Thr175=)
17g.80105110C>GCA401361791GAAc.524C>G (p.Thr175Ser)
17g.80105110C>TCA401361792GAAc.524C>T (p.Thr175Ile)
gnomAD v4
17g.80105110_80105111delCA913184732GAAc.524_525del (p.Thr175ArgfsTer13)
17g.80105110_80105111delinsCTCA2277810832GAAc.524_525delinsCT (p.Thr175=)
17g.80105110_80105112delinsCTGCA2277810834GAAc.524_526delinsCTG (p.Thr175=)
17g.80105111delCA220406GAAc.525del (p.Glu176ArgfsTer?)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80105111T>ACA502402580GAAc.525T>A (p.Thr175=)
17g.80105111T>CCA502402579GAAc.525T>C (p.Thr175=)
ClinVar dbSNP gnomAD v4
17g.80105111T>GCA502402578GAAc.525T>G (p.Thr175=)
17g.80105111T=CA2277810835GAAc.525T= (p.Thr175=)
17g.80105111dupCA8814887GAAc.525dup (p.Glu176Ter)
dbSNP ExAC gnomAD v2
17g.80105111_80105112delCA274328GAAc.525_526del (p.Asn177ProfsTer11)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched