Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.80104734_80107789delCA658795223GAAc.148_859-11del
ClinVar
17g.80104957_80104967delCA2695200347GAAc.371_381del (p.Gln124LeufsTer18)
ClinVar
17g.80104959C>ACA401360944GAAc.373C>A (p.Pro125Thr)
17g.80104959C>GCA401360941GAAc.373C>G (p.Pro125Ala)
17g.80104959C>TCA401360942GAAc.373C>T (p.Pro125Ser)
gnomAD v4
17g.80104961delCA2810576312GAAc.375del (p.Trp126GlyfsTer16)
17g.80104959_80104962delinsCCCTCA2277810747GAAc.373_376delinsCCCT (p.Pro125=)
17g.80104960C>ACA401360945GAAc.374C>A (p.Pro125His)
17g.80104960C>GCA401360947GAAc.374C>G (p.Pro125Arg)
17g.80104960C>TCA401360949GAAc.374C>T (p.Pro125Leu)
gnomAD v4
17g.80104960_80104962delCA775508596GAAc.374_376del (p.Pro125_Trp126delinsArg)
dbSNP
17g.80104961C>ACA502402258GAAc.375C>A (p.Pro125=)
17g.80104961C>GCA502402260GAAc.375C>G (p.Pro125=)
17g.80104961C>TCA502402259GAAc.375C>T (p.Pro125=)
COSMIC
17g.80104961_80104962delCA913014078GAAc.375_376del (p.Trp126ValfsTer19)
17g.80104961_80104962delinsCTCA2277810748GAAc.375_376delinsCT (p.Pro125=)
17g.80104962delCA658824773GAAc.376del (p.Trp126GlyfsTer16)
ClinVar dbSNP
17g.80104962T>ACA401360951GAAc.376T>A (p.Trp126Arg)
17g.80104962T>CCA401360953GAAc.376T>C (p.Trp126Arg)
dbSNP gnomAD v2
17g.80104962T>GCA401360955GAAc.376T>G (p.Trp126Gly)
gnomAD v4
17g.80104962T=CA2277810749GAAc.376T= (p.Trp126=)
17g.80104964_80104966delCA913014079GAAc.378_380del (p.Trp126del)
17g.80104963G>ACA294887189GAAc.377G>A (p.Trp126Ter)
ClinVar dbSNP
17g.80104963G>CCA401360958GAAc.377G>C (p.Trp126Ser)
dbSNP gnomAD v4
17g.80104963G=CA2277810751GAAc.377G= (p.Trp126=)
17g.80104963G>TCA401360960GAAc.377G>T (p.Trp126Leu)
17g.80104963_80104965delinsGGTCA2277810750GAAc.377_379delinsGGT (p.Trp126=)
17g.80104964G>ACA401360961GAAc.378G>A (p.Trp126Ter)
ClinVar dbSNP
17g.80104964G>CCA401360963GAAc.378G>C (p.Trp126Cys)
17g.80104964G=CA2277810752GAAc.378G= (p.Trp126=)
17g.80104964G>TCA401360964GAAc.378G>T (p.Trp126Cys)
gnomAD v4
17g.80104965_80104966delCA658795227GAAc.379_380del (p.Cys127LeufsTer18)
ClinVar dbSNP gnomAD v4
17g.80104965T>ACA401360968GAAc.379T>A (p.Cys127Ser)
17g.80104965T>CCA401360970GAAc.379T>C (p.Cys127Arg)
gnomAD v4
17g.80104965T>GCA401360967GAAc.379T>G (p.Cys127Gly)
17g.80104966G>ACA401360975GAAc.380G>A (p.Cys127Tyr)
17g.80104966G>CCA401360972GAAc.380G>C (p.Cys127Ser)
17g.80104966G>TCA401360974GAAc.380G>T (p.Cys127Phe)
COSMIC
17g.80104966_80104969delinsGCTTCA2277810753GAAc.380_383delinsGCTT (p.Cys127=)
17g.80104967C>ACA401360977GAAc.381C>A (p.Cys127Ter)
17g.80104967C=CA2277810754GAAc.381C= (p.Cys127=)
17g.80104967C>GCA401360978GAAc.381C>G (p.Cys127Trp)
17g.80104967C>TCA502402261GAAc.381C>T (p.Cys127=)
ClinVar dbSNP
17g.80104971_80104973delCA986720965GAAc.385_387del (p.Phe129del)
dbSNP gnomAD v3 gnomAD v4
17g.80104968T>ACA401360980GAAc.382T>A (p.Phe128Ile)
17g.80104968T>CCA401360981GAAc.382T>C (p.Phe128Leu)
17g.80104968T>GCA401360983GAAc.382T>G (p.Phe128Val)
dbSNP gnomAD v4
17g.80104968T=CA2277810755GAAc.382T= (p.Phe128=)
17g.80104969T>ACA401360988GAAc.383T>A (p.Phe128Tyr)
17g.80104969T>CCA401360986GAAc.383T>C (p.Phe128Ser)
ClinVar dbSNP
17g.80104969T>GCA401360987GAAc.383T>G (p.Phe128Cys)
17g.80104969T=CA2277810756GAAc.383T= (p.Phe128=)
17g.80104970C>ACA401360990GAAc.384C>A (p.Phe128Leu)
gnomAD v4
17g.80104970C=CA2277810757GAAc.384C= (p.Phe128=)
17g.80104970C>GCA401360992GAAc.384C>G (p.Phe128Leu)
17g.80104970C>TCA294887195GAAc.384C>T (p.Phe128=)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.80104971T>ACA401360994GAAc.385T>A (p.Phe129Ile)
17g.80104971T>CCA401360996GAAc.385T>C (p.Phe129Leu)
17g.80104971T>GCA401360998GAAc.385T>G (p.Phe129Val)
17g.80104972T>ACA401360999GAAc.386T>A (p.Phe129Tyr)
17g.80104972T>CCA401361003GAAc.386T>C (p.Phe129Ser)
17g.80104972T>GCA401361001GAAc.386T>G (p.Phe129Cys)
17g.80104973C>ACA401361005GAAc.387C>A (p.Phe129Leu)
17g.80104973C>GCA401361006GAAc.387C>G (p.Phe129Leu)
gnomAD v4
17g.80104973C>TCA502402262GAAc.387C>T (p.Phe129=)
17g.80104975delCA2695200348GAAc.389del (p.Pro130HisfsTer12)
ClinVar
17g.80104974C>ACA401361008GAAc.388C>A (p.Pro130Thr)
17g.80104974C=CA2277810758GAAc.388C= (p.Pro130=)
17g.80104974C>GCA401361009GAAc.388C>G (p.Pro130Ala)
17g.80104974C>TCA8814861GAAc.388C>T (p.Pro130Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.80104975C>ACA401361012GAAc.389C>A (p.Pro130Gln)
17g.80104975C=CA2277810759GAAc.389C= (p.Pro130=)
17g.80104975C>GCA401361014GAAc.389C>G (p.Pro130Arg)
ClinVar gnomAD v4
17g.80104975C>TCA8814862GAAc.389C>T (p.Pro130Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.80104976A=CA2277810760GAAc.390A= (p.Pro130=)
17g.80104976A>CCA502402263GAAc.390A>C (p.Pro130=)
dbSNP gnomAD v4
17g.80104976A>GCA502402264GAAc.390A>G (p.Pro130=)
dbSNP gnomAD v3 gnomAD v4
17g.80104976A>TCA502402265GAAc.390A>T (p.Pro130=)
17g.80104976dupCA913014081GAAc.390dup (p.Pro131ThrfsTer15)
17g.80104976_80104977delinsACCA2277810761GAAc.390_391delinsAC (p.Pro130=)
17g.80104977C>ACA401361016GAAc.391C>A (p.Pro131Thr)
dbSNP gnomAD v2 gnomAD v4
17g.80104977C=CA2277810762GAAc.391C= (p.Pro131=)
17g.80104977C>GCA401361018GAAc.391C>G (p.Pro131Ala)
17g.80104977C>TCA401361020GAAc.391C>T (p.Pro131Ser)
dbSNP gnomAD v2 gnomAD v4
17g.80104979delCA16041882GAAc.393del (p.Ser132AlafsTer10)
ClinVar dbSNP
17g.80104986_80104994dupCA658824774GAAc.400_408dup (p.Tyr136_Lys137insProSerTyr)
ClinVar dbSNP
17g.80104978C>ACA401361023GAAc.392C>A (p.Pro131His)
17g.80104978C>GCA401361025GAAc.392C>G (p.Pro131Arg)
17g.80104978C>TCA401361026GAAc.392C>T (p.Pro131Leu)
17g.80104979C>ACA502402266GAAc.393C>A (p.Pro131=)
17g.80104979C=CA2277810763GAAc.393C= (p.Pro131=)
17g.80104979C>GCA8814863GAAc.393C>G (p.Pro131=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80104979C>TCA502402267GAAc.393C>T (p.Pro131=)
COSMIC
17g.80104980A>CCA401361029GAAc.394A>C (p.Ser132Arg)
17g.80104980A>GCA401361031GAAc.394A>G (p.Ser132Gly)
gnomAD v4 COSMIC
17g.80104980A>TCA401361032GAAc.394A>T (p.Ser132Cys)
17g.80104981G>ACA401361035GAAc.395G>A (p.Ser132Asn)
gnomAD v4
17g.80104981G>CCA8814864GAAc.395G>C (p.Ser132Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80104981G=CA2277810764GAAc.395G= (p.Ser132=)
17g.80104981G>TCA401361038GAAc.395G>T (p.Ser132Ile)
17g.80104982C>ACA401361040GAAc.396C>A (p.Ser132Arg)
17g.80104982C>GCA401361041GAAc.396C>G (p.Ser132Arg)
ClinVar dbSNP
17g.80104982C>TCA502402268GAAc.396C>T (p.Ser132=)
17g.80104982dupCA2695200349GAAc.396dup (p.Tyr133LeufsTer13)
ClinVar
17g.80104983T>ACA401361042GAAc.397T>A (p.Tyr133Asn)
dbSNP gnomAD v3 gnomAD v4
17g.80104983T>CCA401361044GAAc.397T>C (p.Tyr133His)
dbSNP gnomAD v4
17g.80104983T>GCA401361046GAAc.397T>G (p.Tyr133Asp)
gnomAD v4
17g.80104983T=CA2277810765GAAc.397T= (p.Tyr133=)
17g.80104984A>CCA401361048GAAc.398A>C (p.Tyr133Ser)
17g.80104984A>GCA401361052GAAc.398A>G (p.Tyr133Cys)
17g.80104984A>TCA401361050GAAc.398A>T (p.Tyr133Phe)
17g.80104985C>ACA401361056GAAc.399C>A (p.Tyr133Ter)
ClinVar dbSNP
17g.80104985C=CA2277810766GAAc.399C= (p.Tyr133=)
17g.80104985C>GCA401361058GAAc.399C>G (p.Tyr133Ter)
17g.80104985C>TCA502402269GAAc.399C>T (p.Tyr133=)
ClinVar gnomAD v4
17g.80104986C>ACA401361061GAAc.400C>A (p.Pro134Thr)
17g.80104986C=CA2277810767GAAc.400C= (p.Pro134=)
17g.80104986C>GCA401361063GAAc.400C>G (p.Pro134Ala)
17g.80104986C>TCA8814865GAAc.400C>T (p.Pro134Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.80104987C>ACA401361069GAAc.401C>A (p.Pro134His)
17g.80104987C=CA2277810768GAAc.401C= (p.Pro134=)
17g.80104987C>GCA401361071GAAc.401C>G (p.Pro134Arg)
dbSNP
17g.80104987C>TCA401361074GAAc.401C>T (p.Pro134Leu)
COSMIC
17g.80104988C>ACA502402270GAAc.402C>A (p.Pro134=)
gnomAD v4
17g.80104988C>GCA502402273GAAc.402C>G (p.Pro134=)
17g.80104988C>TCA502402272GAAc.402C>T (p.Pro134=)
17g.80104989A>CCA401361077GAAc.403A>C (p.Ser135Arg)
17g.80104989A>GCA401361079GAAc.403A>G (p.Ser135Gly)
gnomAD v4
17g.80104989A>TCA401361080GAAc.403A>T (p.Ser135Cys)
17g.80104990G>ACA401361083GAAc.404G>A (p.Ser135Asn)
dbSNP gnomAD v3 gnomAD v4
17g.80104990G>CCA401361085GAAc.404G>C (p.Ser135Thr)
17g.80104990G=CA2277810769GAAc.404G= (p.Ser135=)
17g.80104990G>TCA401361081GAAc.404G>T (p.Ser135Ile)
17g.80104991C>ACA8814866GAAc.405C>A (p.Ser135Arg)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.80104991C=CA2277810770GAAc.405C= (p.Ser135=)
17g.80104991C>GCA401361088GAAc.405C>G (p.Ser135Arg)
17g.80104991C>TCA502402274GAAc.405C>T (p.Ser135=)
17g.80104992T>ACA401361091GAAc.406T>A (p.Tyr136Asn)
17g.80104992T>CCA401361093GAAc.406T>C (p.Tyr136His)
17g.80104992T>GCA401361109GAAc.406T>G (p.Tyr136Asp)
17g.80104993A>CCA401361121GAAc.407A>C (p.Tyr136Ser)
17g.80104993A>GCA401361124GAAc.407A>G (p.Tyr136Cys)
ClinVar gnomAD v4
17g.80104993A>TCA401361128GAAc.407A>T (p.Tyr136Phe)
17g.80104995_80105006delCA2640275634GAAc.409_420del (p.Lys137_Asn140del)
gnomAD v4
17g.80104994C>ACA401361132GAAc.408C>A (p.Tyr136Ter)
17g.80104994C=CA2277810771GAAc.408C= (p.Tyr136=)
17g.80104994C>GCA401361133GAAc.408C>G (p.Tyr136Ter)
dbSNP gnomAD v4
17g.80104994C>TCA8814867GAAc.408C>T (p.Tyr136=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80104995A>CCA401361140GAAc.409A>C (p.Lys137Gln)
17g.80104995A>GCA401361142GAAc.409A>G (p.Lys137Glu)
17g.80104995A>TCA401361144GAAc.409A>T (p.Lys137Ter)
17g.80104996A>CCA401361165GAAc.410A>C (p.Lys137Thr)
17g.80104996A>GCA401361159GAAc.410A>G (p.Lys137Arg)
17g.80104996A>TCA401361161GAAc.410A>T (p.Lys137Met)
17g.80104997G>ACA502402279GAAc.411G>A (p.Lys137=)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.80104997G>CCA401361167GAAc.411G>C (p.Lys137Asn)
17g.80104997G=CA2277810772GAAc.411G= (p.Lys137=)
17g.80104997G>TCA401361169GAAc.411G>T (p.Lys137Asn)
17g.80104998C>ACA401361172GAAc.412C>A (p.Leu138Met)
COSMIC
17g.80104998C=CA2277810773GAAc.412C= (p.Leu138=)
17g.80104998C>GCA8814868GAAc.412C>G (p.Leu138Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80104998C>TCA502402280GAAc.412C>T (p.Leu138=)
gnomAD v4
17g.80104999T>ACA401361175GAAc.413T>A (p.Leu138Gln)
17g.80104999T>CCA401361177GAAc.413T>C (p.Leu138Pro)
17g.80104999T>GCA401361179GAAc.413T>G (p.Leu138Arg)
17g.80105000G>ACA502402284GAAc.414G>A (p.Leu138=)
ClinVar
17g.80105000G>CCA502402285GAAc.414G>C (p.Leu138=)
17g.80105000G>TCA502402286GAAc.414G>T (p.Leu138=)
17g.80105001G>ACA294887228GAAc.415G>A (p.Glu139Lys)
ClinVar dbSNP gnomAD v4
17g.80105001G>CCA401361185GAAc.415G>C (p.Glu139Gln)
17g.80105001G=CA2277810774GAAc.415G= (p.Glu139=)
17g.80105001G>TCA401361188GAAc.415G>T (p.Glu139Ter)
17g.80105002A>CCA401361189GAAc.416A>C (p.Glu139Ala)
17g.80105002A>GCA401361192GAAc.416A>G (p.Glu139Gly)
17g.80105002A>TCA401361195GAAc.416A>T (p.Glu139Val)
17g.80105003G>ACA502402287GAAc.417G>A (p.Glu139=)
17g.80105003G>CCA401361199GAAc.417G>C (p.Glu139Asp)
17g.80105003G>TCA401361203GAAc.417G>T (p.Glu139Asp)
17g.80105004A>CCA401361206GAAc.418A>C (p.Asn140His)
17g.80105004A>GCA401361209GAAc.418A>G (p.Asn140Asp)
gnomAD v4
17g.80105004A>TCA401361212GAAc.418A>T (p.Asn140Tyr)
17g.80105005A>CCA401361216GAAc.419A>C (p.Asn140Thr)
17g.80105005A>GCA401361219GAAc.419A>G (p.Asn140Ser)
17g.80105005A>TCA401361221GAAc.419A>T (p.Asn140Ile)
ClinVar
17g.80105006C>ACA8814869GAAc.420C>A (p.Asn140Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80105006C=CA2277810775GAAc.420C= (p.Asn140=)
17g.80105006C>GCA401361226GAAc.420C>G (p.Asn140Lys)
17g.80105006C>TCA294887240GAAc.420C>T (p.Asn140=)
dbSNP
17g.80105007C>ACA401361229GAAc.421C>A (p.Leu141Met)
ClinVar dbSNP
17g.80105007C=CA2277810776GAAc.421C= (p.Leu141=)
17g.80105007C>GCA401361231GAAc.421C>G (p.Leu141Val)
gnomAD v4
17g.80105007C>TCA502402289GAAc.421C>T (p.Leu141=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80105008T>ACA401361236GAAc.422T>A (p.Leu141Gln)
17g.80105008T>CCA401361238GAAc.422T>C (p.Leu141Pro)
17g.80105008T>GCA401361241GAAc.422T>G (p.Leu141Arg)
17g.80105009G>ACA502402292GAAc.423G>A (p.Leu141=)
ClinVar
17g.80105009G>CCA502402294GAAc.423G>C (p.Leu141=)
17g.80105009G>TCA502402293GAAc.423G>T (p.Leu141=)
ClinVar dbSNP
17g.80105010_80105026delCA658795228GAAc.424_440del (p.Ser142LeufsTer29)
ClinVar
17g.80105010A>CCA401361247GAAc.424A>C (p.Ser142Arg)
17g.80105010A>GCA401361251GAAc.424A>G (p.Ser142Gly)
17g.80105010A>TCA401361244GAAc.424A>T (p.Ser142Cys)
17g.80105010_80105011insTCAGCA2810576313GAAc.424_425insTCAG (p.Ser142IlefsTer5)
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

Number of alleles fetched