Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.127823973_127830053delCA1139661202ENGc.-327-226_588+331del
c.220-226_1134+331del
ClinVar
9g.127823973_127830815delCA1139661203ENGc.-327-988_588+331del
c.220-988_1134+331del
ClinVar
9g.127824679_127826283delCA1139661205ENGc.-24+229_445+123del
c.523+229_991+123del
ClinVar
9g.127824681_127830056delCA1139661206ENGc.-327-225_445+123del
c.220-225_991+123del
ClinVar
9g.127824709_127824895delinsGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGACA1879973147ENGc.350_445+91delinsTCCTGGGGGAGGCCCGGATGCTCAATGCCAGCATTGTGGCATCCTTCGTGGAGCTACCGCTGGCCAGCATTGTCTCACTTCATGCCTCCAGCTGCGGTGAGCACCCTTCCCCTGCCCCTCCCTTCCCTTCCCCTCCCTTGGATCAGTGGCCACACTGTTGGTGAAGCACCTCTGTGTGAGCTTGGGC
c.896_991+91delinsTCCTGGGGGAGGCCCGGATGCTCAATGCCAGCATTGTGGCATCCTTCGTGGAGCTACCGCTGGCCAGCATTGTCTCACTTCATGCCTCCAGCTGCGGTGAGCACCCTTCCCCTGCCCCTCCCTTCCCTTCCCCTCCCTTGGATCAGTGGCCACACTGTTGGTGAAGCACCTCTGTGTGAGCTTGGGC
9g.127824710_127824895delCA658797291ENGc.350_445+90del
c.896_991+90del
ClinVar dbSNP
9g.127824834_127824869delCA2573053101ENGc.387_422del (p.Ala130_Val141del)
c.933_968del (p.Ala312_Val323del)
ClinVar dbSNP
9g.127824831_127824840delCA2695211256ENGc.406_415del (p.Pro136AlafsTer?)
c.952_961del (p.Pro318AlafsTer?)
9g.127824834_127824840delinsCAGCGGTCA1879973472ENGc.405_411delinsACCGCTG (p.Leu135=)
c.951_957delinsACCGCTG (p.Leu317=)
9g.127824838_127824843delCA1879973475ENGc.405_410del (p.Pro136_Leu137del)
c.951_956del (p.Pro318_Leu319del)
ClinVar dbSNP
9g.127824840T>ACA467230922ENGc.405A>T (p.Leu135=)
c.951A>T (p.Leu317=)
9g.127824840T>CCA467230921ENGc.405A>G (p.Leu135=)
c.951A>G (p.Leu317=)
9g.127824840T>GCA467230920ENGc.405A>C (p.Leu135=)
c.951A>C (p.Leu317=)
gnomAD v4
9g.127824841A>CCA374982104ENGc.404T>G (p.Leu135Arg)
c.950T>G (p.Leu317Arg)
9g.127824841A>GCA374982107ENGc.404T>C (p.Leu135Pro)
c.950T>C (p.Leu317Pro)
ClinVar
9g.127824841A>TCA374982101ENGc.404T>A (p.Leu135Gln)
c.950T>A (p.Leu317Gln)
ClinVar
9g.127824842G>ACA467230923ENGc.403C>T (p.Leu135=)
c.949C>T (p.Leu317=)
9g.127824842G>CCA374982109ENGc.403C>G (p.Leu135Val)
c.949C>G (p.Leu317Val)
9g.127824842G>TCA374982111ENGc.403C>A (p.Leu135Ile)
c.949C>A (p.Leu317Ile)
9g.127824843C>ACA374982113ENGc.402G>T (p.Glu134Asp)
c.948G>T (p.Glu316Asp)
gnomAD v4
9g.127824843C>GCA374982114ENGc.402G>C (p.Glu134Asp)
c.948G>C (p.Glu316Asp)
9g.127824843C>TCA467230924ENGc.402G>A (p.Glu134=)
c.948G>A (p.Glu316=)
9g.127824844T>ACA374982115ENGc.401A>T (p.Glu134Val)
c.947A>T (p.Glu316Val)
9g.127824844T>CCA374982116ENGc.401A>G (p.Glu134Gly)
c.947A>G (p.Glu316Gly)
dbSNP
9g.127824844T>GCA374982117ENGc.401A>C (p.Glu134Ala)
c.947A>C (p.Glu316Ala)
9g.127824845C>ACA374982119ENGc.400G>T (p.Glu134Ter)
c.946G>T (p.Glu316Ter)
gnomAD v4
9g.127824845C>GCA374982122ENGc.400G>C (p.Glu134Gln)
c.946G>C (p.Glu316Gln)
9g.127824845C>TCA374982124ENGc.400G>A (p.Glu134Lys)
c.946G>A (p.Glu316Lys)
9g.127824846C>ACA467230925ENGc.399G>T (p.Val133=)
c.945G>T (p.Val315=)
gnomAD v4
9g.127824846C>GCA467230926ENGc.399G>C (p.Val133=)
c.945G>C (p.Val315=)
9g.127824846C>TCA467230927ENGc.399G>A (p.Val133=)
c.945G>A (p.Val315=)
9g.127824847_127824848delCA2580079634ENGc.398_399del (p.Val133GlyfsTer18)
c.944_945del (p.Val315GlyfsTer18)
ClinVar
9g.127824847A>CCA374982126ENGc.398T>G (p.Val133Gly)
c.944T>G (p.Val315Gly)
9g.127824847A>GCA374982127ENGc.398T>C (p.Val133Ala)
c.944T>C (p.Val315Ala)
gnomAD v4
9g.127824847A>TCA374982131ENGc.398T>A (p.Val133Glu)
c.944T>A (p.Val315Glu)
9g.127824848C>ACA374982134ENGc.397G>T (p.Val133Leu)
c.943G>T (p.Val315Leu)
ClinVar
9g.127824848C=CA1879973493ENGc.397G= (p.Val133=)
c.943G= (p.Val315=)
9g.127824848C>GCA374982132ENGc.397G>C (p.Val133Leu)
c.943G>C (p.Val315Leu)
gnomAD v4
9g.127824848C>TCA5252934ENGc.397G>A (p.Val133Met)
c.943G>A (p.Val315Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.127824849G>ACA200313048ENGc.396C>T (p.Phe132=)
c.942C>T (p.Phe314=)
ClinVar dbSNP gnomAD v4
9g.127824849G>CCA374982138ENGc.396C>G (p.Phe132Leu)
c.942C>G (p.Phe314Leu)
9g.127824849G=CA1879973500ENGc.396C= (p.Phe132=)
c.942C= (p.Phe314=)
9g.127824849G>TCA5252935ENGc.396C>A (p.Phe132Leu)
c.942C>A (p.Phe314Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.127824850A>CCA374982144ENGc.395T>G (p.Phe132Cys)
c.941T>G (p.Phe314Cys)
9g.127824850A>GCA374982146ENGc.395T>C (p.Phe132Ser)
c.941T>C (p.Phe314Ser)
9g.127824850A>TCA374982148ENGc.395T>A (p.Phe132Tyr)
c.941T>A (p.Phe314Tyr)
9g.127824851A>CCA374982151ENGc.394T>G (p.Phe132Val)
c.940T>G (p.Phe314Val)
9g.127824851A>GCA374982154ENGc.394T>C (p.Phe132Leu)
c.940T>C (p.Phe314Leu)
9g.127824851A>TCA374982157ENGc.394T>A (p.Phe132Ile)
c.940T>A (p.Phe314Ile)
9g.127824852G>ACA467230928ENGc.393C>T (p.Ser131=)
c.939C>T (p.Ser313=)
9g.127824852G>CCA467230929ENGc.393C>G (p.Ser131=)
c.939C>G (p.Ser313=)
9g.127824852G>TCA467230930ENGc.393C>A (p.Ser131=)
c.939C>A (p.Ser313=)
9g.127824853G>ACA374982160ENGc.392C>T (p.Ser131Phe)
c.938C>T (p.Ser313Phe)
gnomAD v4
9g.127824853G>CCA374982163ENGc.392C>G (p.Ser131Cys)
c.938C>G (p.Ser313Cys)
9g.127824853G>TCA374982166ENGc.392C>A (p.Ser131Tyr)
c.938C>A (p.Ser313Tyr)
9g.127824854A>CCA374982170ENGc.391T>G (p.Ser131Ala)
c.937T>G (p.Ser313Ala)
9g.127824854A>GCA374982173ENGc.391T>C (p.Ser131Pro)
c.937T>C (p.Ser313Pro)
9g.127824854A>TCA374982178ENGc.391T>A (p.Ser131Thr)
c.937T>A (p.Ser313Thr)
9g.127824855T>ACA467230931ENGc.390A>T (p.Ala130=)
c.936A>T (p.Ala312=)
9g.127824855T>CCA467230932ENGc.390A>G (p.Ala130=)
c.936A>G (p.Ala312=)
9g.127824855T>GCA467230933ENGc.390A>C (p.Ala130=)
c.936A>C (p.Ala312=)
9g.127824856G>ACA5252936ENGc.389C>T (p.Ala130Val)
c.935C>T (p.Ala312Val)
dbSNP ExAC gnomAD v2
9g.127824856G>CCA374982180ENGc.389C>G (p.Ala130Gly)
c.935C>G (p.Ala312Gly)
9g.127824856G=CA1879973508ENGc.389C= (p.Ala130=)
c.935C= (p.Ala312=)
9g.127824856G>TCA374982179ENGc.389C>A (p.Ala130Glu)
c.935C>A (p.Ala312Glu)
9g.127824857C>ACA374982183ENGc.388G>T (p.Ala130Ser)
c.934G>T (p.Ala312Ser)
9g.127824857C>GCA374982186ENGc.388G>C (p.Ala130Pro)
c.934G>C (p.Ala312Pro)
9g.127824857C>TCA374982191ENGc.388G>A (p.Ala130Thr)
c.934G>A (p.Ala312Thr)
gnomAD v4
9g.127824858delCA1139533027ENGc.388del (p.Ala130HisfsTer?)
c.934del (p.Ala312HisfsTer?)
ClinVar dbSNP
9g.127824858C>ACA5252937ENGc.387G>T (p.Val129=)
c.933G>T (p.Val311=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127824858C=CA1879973515ENGc.387G= (p.Val129=)
c.933G= (p.Val311=)
9g.127824858C>GCA467230934ENGc.387G>C (p.Val129=)
c.933G>C (p.Val311=)
gnomAD v4
9g.127824858C>TCA467230935ENGc.387G>A (p.Val129=)
c.933G>A (p.Val311=)
ClinVar dbSNP gnomAD v4
9g.127824859A>CCA374982196ENGc.386T>G (p.Val129Gly)
c.932T>G (p.Val311Gly)
ClinVar
9g.127824859A>GCA374982204ENGc.386T>C (p.Val129Ala)
c.932T>C (p.Val311Ala)
9g.127824859A>TCA374982207ENGc.386T>A (p.Val129Glu)
c.932T>A (p.Val311Glu)
9g.127824860C>ACA374982213ENGc.385G>T (p.Val129Leu)
c.931G>T (p.Val311Leu)
9g.127824860C>GCA374982225ENGc.385G>C (p.Val129Leu)
c.931G>C (p.Val311Leu)
9g.127824860C>TCA374982222ENGc.385G>A (p.Val129Met)
c.931G>A (p.Val311Met)
9g.127824861A>CCA374982229ENGc.384T>G (p.Ile128Met)
c.930T>G (p.Ile310Met)
9g.127824861A>GCA467230937ENGc.384T>C (p.Ile128=)
c.930T>C (p.Ile310=)
gnomAD v4
9g.127824861A>TCA467230936ENGc.384T>A (p.Ile128=)
c.930T>A (p.Ile310=)
9g.127824862A=CA1879973520ENGc.383T= (p.Ile128=)
c.929T= (p.Ile310=)
9g.127824862A>CCA374982232ENGc.383T>G (p.Ile128Ser)
c.929T>G (p.Ile310Ser)
9g.127824862A>GCA374982235ENGc.383T>C (p.Ile128Thr)
c.929T>C (p.Ile310Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127824862A>TCA374982238ENGc.383T>A (p.Ile128Asn)
c.929T>A (p.Ile310Asn)
9g.127824862_127824882delCA2695211262ENGc.363_383del (p.Arg122_Ile128del)
c.909_929del (p.Arg304_Ile310del)
9g.127824863T>ACA374982239ENGc.382A>T (p.Ile128Phe)
c.928A>T (p.Ile310Phe)
9g.127824863T>CCA374982243ENGc.382A>G (p.Ile128Val)
c.928A>G (p.Ile310Val)
9g.127824863T>GCA374982241ENGc.382A>C (p.Ile128Leu)
c.928A>C (p.Ile310Leu)
9g.127824864G>ACA467230938ENGc.381C>T (p.Ser127=)
c.927C>T (p.Ser309=)
dbSNP
9g.127824864G>CCA374982247ENGc.381C>G (p.Ser127Arg)
c.927C>G (p.Ser309Arg)
9g.127824864G=CA1879973521ENGc.381C= (p.Ser127=)
c.927C= (p.Ser309=)
9g.127824864G>TCA374982254ENGc.381C>A (p.Ser127Arg)
c.927C>A (p.Ser309Arg)
9g.127824866_127824869dupCA2580079635ENGc.378_381dup (p.Ile128GlnfsTer25)
c.924_927dup (p.Ile310GlnfsTer25)
ClinVar
9g.127824865C>ACA374982258ENGc.380G>T (p.Ser127Ile)
c.926G>T (p.Ser309Ile)
9g.127824865C=CA1879973524ENGc.380G= (p.Ser127=)
c.926G= (p.Ser309=)
9g.127824865C>GCA374982260ENGc.380G>C (p.Ser127Thr)
c.926G>C (p.Ser309Thr)
9g.127824865C>TCA374982264ENGc.380G>A (p.Ser127Asn)
c.926G>A (p.Ser309Asn)
9g.127824866T>ACA374982267ENGc.379A>T (p.Ser127Cys)
c.925A>T (p.Ser309Cys)
9g.127824866T>CCA374982268ENGc.379A>G (p.Ser127Gly)
c.925A>G (p.Ser309Gly)
9g.127824866T>GCA374982271ENGc.379A>C (p.Ser127Arg)
c.925A>C (p.Ser309Arg)
9g.127824866_127824868dupCA1879973525ENGc.377_379dup (p.Ala126_Ser127insThr)
c.923_925dup (p.Ala308_Ser309insThr)
ClinVar dbSNP
9g.127824867G>ACA467230939ENGc.378C>T (p.Ala126=)
c.924C>T (p.Ala308=)
9g.127824867G>CCA467230940ENGc.378C>G (p.Ala126=)
c.924C>G (p.Ala308=)
9g.127824867G>TCA467230941ENGc.378C>A (p.Ala126=)
c.924C>A (p.Ala308=)
9g.127824868G>ACA374982274ENGc.377C>T (p.Ala126Val)
c.923C>T (p.Ala308Val)
dbSNP
9g.127824868G>CCA374982276ENGc.377C>G (p.Ala126Gly)
c.923C>G (p.Ala308Gly)
9g.127824868G=CA1879973531ENGc.377C= (p.Ala126=)
c.923C= (p.Ala308=)
9g.127824868G>TCA374982277ENGc.377C>A (p.Ala126Asp)
c.923C>A (p.Ala308Asp)
ClinVar dbSNP
9g.127824869C>ACA374982283ENGc.376G>T (p.Ala126Ser)
c.922G>T (p.Ala308Ser)
gnomAD v4
9g.127824869C>GCA374982282ENGc.376G>C (p.Ala126Pro)
c.922G>C (p.Ala308Pro)
9g.127824869C>TCA374982280ENGc.376G>A (p.Ala126Thr)
c.922G>A (p.Ala308Thr)
COSMIC COSMIC
9g.127824869dupCA2573143967ENGc.376dup (p.Ala126GlyfsTer26)
c.922dup (p.Ala308GlyfsTer26)
ClinVar dbSNP
9g.127824870A=CA1879973534ENGc.375T= (p.Asn125=)
c.921T= (p.Asn307=)
9g.127824870A>CCA374982285ENGc.375T>G (p.Asn125Lys)
c.921T>G (p.Asn307Lys)
9g.127824870A>GCA467230942ENGc.375T>C (p.Asn125=)
c.921T>C (p.Asn307=)
dbSNP gnomAD v3 gnomAD v4
9g.127824870A>TCA374982288ENGc.375T>A (p.Asn125Lys)
c.921T>A (p.Asn307Lys)
9g.127824871T>ACA374982291ENGc.374A>T (p.Asn125Ile)
c.920A>T (p.Asn307Ile)
ClinVar
9g.127824871T>CCA5252938ENGc.374A>G (p.Asn125Ser)
c.920A>G (p.Asn307Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127824871T>GCA374982294ENGc.374A>C (p.Asn125Thr)
c.920A>C (p.Asn307Thr)
9g.127824871T=CA1879973543ENGc.374A= (p.Asn125=)
c.920A= (p.Asn307=)
9g.127824871_127824872delCA2580079636ENGc.373_374del (p.Asn125CysfsTer26)
c.919_920del (p.Asn307CysfsTer26)
ClinVar
9g.127824872dupCA658797292ENGc.374dup (p.Asn125LysfsTer27)
c.920dup (p.Asn307LysfsTer27)
ClinVar dbSNP
9g.127824872_127824910delCA913184987ENGc.336_374del (p.Thr113_Asn125del)
c.882_920del (p.Thr295_Asn307del)
ClinVar dbSNP
9g.127824872T>ACA374982302ENGc.373A>T (p.Asn125Tyr)
c.919A>T (p.Asn307Tyr)
9g.127824872T>CCA374982307ENGc.373A>G (p.Asn125Asp)
c.919A>G (p.Asn307Asp)
ClinVar dbSNP gnomAD v4
9g.127824872T>GCA374982303ENGc.373A>C (p.Asn125His)
c.919A>C (p.Asn307His)
gnomAD v4
9g.127824872T=CA1879973550ENGc.373A= (p.Asn125=)
c.919A= (p.Asn307=)
9g.127824872_127824880delinsTGAGCATCCCA1879973548ENGc.365_373delinsGGATGCTCA (p.Arg122=)
c.911_919delinsGGATGCTCA (p.Arg304=)
9g.127824873G>ACA467230945ENGc.372C>T (p.Leu124=)
c.918C>T (p.Leu306=)
gnomAD v4
9g.127824873G>CCA467230946ENGc.372C>G (p.Leu124=)
c.918C>G (p.Leu306=)
9g.127824873G>TCA467230947ENGc.372C>A (p.Leu124=)
c.918C>A (p.Leu306=)
COSMIC COSMIC
9g.127824874_127824875delCA2580079637ENGc.371_372del (p.Leu124GlnfsTer27)
c.917_918del (p.Leu306GlnfsTer27)
ClinVar
9g.127824874_127824881delCA891842558ENGc.365_372del (p.Arg122GlnfsTer27)
c.911_918del (p.Arg304GlnfsTer27)
ClinVar dbSNP
9g.127824874A>CCA374982311ENGc.371T>G (p.Leu124Arg)
c.917T>G (p.Leu306Arg)
9g.127824874A>GCA374982314ENGc.371T>C (p.Leu124Pro)
c.917T>C (p.Leu306Pro)
ClinVar
9g.127824874A>TCA374982315ENGc.371T>A (p.Leu124His)
c.917T>A (p.Leu306His)
9g.127824875delCA2580079638ENGc.370del (p.Leu124SerfsTer?)
c.916del (p.Leu306SerfsTer?)
ClinVar
9g.127824875G>ACA374982318ENGc.370C>T (p.Leu124Phe)
c.916C>T (p.Leu306Phe)
9g.127824875G>CCA374982322ENGc.370C>G (p.Leu124Val)
c.916C>G (p.Leu306Val)
9g.127824875G>TCA374982325ENGc.370C>A (p.Leu124Ile)
c.916C>A (p.Leu306Ile)
COSMIC COSMIC
9g.127824876C>ACA374982334ENGc.369G>T (p.Met123Ile)
c.915G>T (p.Met305Ile)
9g.127824876C>GCA374982331ENGc.369G>C (p.Met123Ile)
c.915G>C (p.Met305Ile)
9g.127824876C>TCA374982329ENGc.369G>A (p.Met123Ile)
c.915G>A (p.Met305Ile)
9g.127824877A>CCA374982339ENGc.368T>G (p.Met123Arg)
c.914T>G (p.Met305Arg)
9g.127824877A>GCA374982341ENGc.368T>C (p.Met123Thr)
c.914T>C (p.Met305Thr)
9g.127824877A>TCA374982344ENGc.368T>A (p.Met123Lys)
c.914T>A (p.Met305Lys)
9g.127824878T>ACA374982347ENGc.367A>T (p.Met123Leu)
c.913A>T (p.Met305Leu)
9g.127824878T>CCA374982349ENGc.367A>G (p.Met123Val)
c.913A>G (p.Met305Val)
9g.127824878T>GCA374982353ENGc.367A>C (p.Met123Leu)
c.913A>C (p.Met305Leu)
9g.127824879C>ACA467230948ENGc.366G>T (p.Arg122=)
c.912G>T (p.Arg304=)
9g.127824879C=CA1879973560ENGc.366G= (p.Arg122=)
c.912G= (p.Arg304=)
9g.127824879C>GCA467230949ENGc.366G>C (p.Arg122=)
c.912G>C (p.Arg304=)
9g.127824879C>TCA467230950ENGc.366G>A (p.Arg122=)
c.912G>A (p.Arg304=)
dbSNP gnomAD v3 gnomAD v4
9g.127824880C>ACA374982356ENGc.365G>T (p.Arg122Leu)
c.911G>T (p.Arg304Leu)
9g.127824880C=CA1879973568ENGc.365G= (p.Arg122=)
c.911G= (p.Arg304=)
9g.127824880C>GCA374982363ENGc.365G>C (p.Arg122Pro)
c.911G>C (p.Arg304Pro)
9g.127824880C>TCA5252939ENGc.365G>A (p.Arg122Gln)
c.911G>A (p.Arg304Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127824881G>ACA200313055ENGc.364C>T (p.Arg122Trp)
c.910C>T (p.Arg304Trp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127824881G>CCA5252940ENGc.364C>G (p.Arg122Gly)
c.910C>G (p.Arg304Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127824881G=CA1879973584ENGc.364C= (p.Arg122=)
c.910C= (p.Arg304=)
9g.127824881G>TCA467474558ENGc.364C>A (p.Arg122=)
c.910C>A (p.Arg304=)
9g.127824883dupCA374982369ENGc.364dup (p.Arg122ProfsTer30)
c.910dup (p.Arg304ProfsTer30)
dbSNP
9g.127824883delCA2580079639ENGc.364del (p.Arg122GlyfsTer?)
c.910del (p.Arg304GlyfsTer?)
ClinVar
9g.127824882G>ACA5252941ENGc.363C>T (p.Ala121=)
c.909C>T (p.Ala303=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127824882G>CCA467474560ENGc.363C>G (p.Ala121=)
c.909C>G (p.Ala303=)
9g.127824882G=CA1879973599ENGc.363C= (p.Ala121=)
c.909C= (p.Ala303=)
9g.127824882G>TCA467474561ENGc.363C>A (p.Ala121=)
c.909C>A (p.Ala303=)
dbSNP
9g.127824883G>ACA374982378ENGc.362C>T (p.Ala121Val)
c.908C>T (p.Ala303Val)
COSMIC COSMIC
9g.127824883G>CCA374982380ENGc.362C>G (p.Ala121Gly)
c.908C>G (p.Ala303Gly)
9g.127824883G>TCA374982383ENGc.362C>A (p.Ala121Asp)
c.908C>A (p.Ala303Asp)
ClinVar
9g.127824884C>ACA374982386ENGc.361G>T (p.Ala121Ser)
c.907G>T (p.Ala303Ser)
9g.127824884C=CA1879973605ENGc.361G= (p.Ala121=)
c.907G= (p.Ala303=)
9g.127824884C>GCA5252942ENGc.361G>C (p.Ala121Pro)
c.907G>C (p.Ala303Pro)
dbSNP ExAC gnomAD v2
9g.127824884C>TCA374982392ENGc.361G>A (p.Ala121Thr)
c.907G>A (p.Ala303Thr)
gnomAD v4
9g.127824885C>ACA374982395ENGc.360G>T (p.Glu120Asp)
c.906G>T (p.Glu302Asp)
9g.127824885C>GCA374982397ENGc.360G>C (p.Glu120Asp)
c.906G>C (p.Glu302Asp)
9g.127824885C>TCA467474565ENGc.360G>A (p.Glu120=)
c.906G>A (p.Glu302=)
ClinVar
9g.127824886T>ACA374982414ENGc.359A>T (p.Glu120Val)
c.905A>T (p.Glu302Val)
9g.127824886T>CCA5252943ENGc.359A>G (p.Glu120Gly)
c.905A>G (p.Glu302Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.127824886T>GCA374982411ENGc.359A>C (p.Glu120Ala)
c.905A>C (p.Glu302Ala)
9g.127824886T=CA1879973610ENGc.359A= (p.Glu120=)
c.905A= (p.Glu302=)
9g.127824887C>ACA16612407ENGc.358G>T (p.Glu120Ter)
c.904G>T (p.Glu302Ter)
ClinVar dbSNP
9g.127824887C=CA1879973617ENGc.358G= (p.Glu120=)
c.904G= (p.Glu302=)
9g.127824887C>GCA374982420ENGc.358G>C (p.Glu120Gln)
c.904G>C (p.Glu302Gln)
9g.127824887C>TCA374982422ENGc.358G>A (p.Glu120Lys)
c.904G>A (p.Glu302Lys)
9g.127824891dupCA658656033ENGc.358dup (p.Glu120GlyfsTer?)
c.904dup (p.Glu302GlyfsTer?)
ClinVar dbSNP
9g.127824890_127824891dupCA2580617564ENGc.357_358dup (p.Glu120GlyfsTer?)
c.903_904dup (p.Glu302GlyfsTer?)
ClinVar
9g.127824891delCA2691808696ENGc.358del (p.Glu120ArgfsTer?)
c.904del (p.Glu302ArgfsTer?)
gnomAD v4
9g.127824888C>ACA467474576ENGc.357G>T (p.Gly119=)
c.903G>T (p.Gly301=)
9g.127824888C>GCA467474575ENGc.357G>C (p.Gly119=)
c.903G>C (p.Gly301=)
9g.127824888C>TCA467474574ENGc.357G>A (p.Gly119=)
c.903G>A (p.Gly301=)
9g.127824889C>ACA374982425ENGc.356G>T (p.Gly119Val)
c.902G>T (p.Gly301Val)
9g.127824889C=CA1879973622ENGc.356G= (p.Gly119=)
c.902G= (p.Gly301=)
9g.127824889C>GCA374982428ENGc.356G>C (p.Gly119Ala)
c.902G>C (p.Gly301Ala)
dbSNP gnomAD v2 gnomAD v4
9g.127824889C>TCA374982432ENGc.356G>A (p.Gly119Glu)
c.902G>A (p.Gly301Glu)
9g.127824889_127824892delinsCCCACA1879973623ENGc.353_356delinsTGGG (p.Leu118=)
c.899_902delinsTGGG (p.Leu300=)
9g.127824890C>ACA374982435ENGc.355G>T (p.Gly119Trp)
c.901G>T (p.Gly301Trp)
9g.127824890C=CA1879973630ENGc.355G= (p.Gly119=)
c.901G= (p.Gly301=)
9g.127824890C>GCA374982438ENGc.355G>C (p.Gly119Arg)
c.901G>C (p.Gly301Arg)
ClinVar dbSNP gnomAD v4
9g.127824890C>TCA374982440ENGc.355G>A (p.Gly119Arg)
c.901G>A (p.Gly301Arg)
gnomAD v4
9g.127824890_127824892delinsGCA1139661208ENGc.353_355delinsC (p.Leu118ProfsTer?)
c.899_901delinsC (p.Leu300ProfsTer?)
ClinVar dbSNP
9g.127824891C>ACA5252945ENGc.354G>T (p.Leu118=)
c.900G>T (p.Leu300=)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.127824891C=CA1879973645ENGc.354G= (p.Leu118=)
c.900G= (p.Leu300=)
9g.127824891C>GCA467474578ENGc.354G>C (p.Leu118=)
c.900G>C (p.Leu300=)
9g.127824891C>TCA5252944ENGc.354G>A (p.Leu118=)
c.900G>A (p.Leu300=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.127824892A=CA1879973653ENGc.353T= (p.Leu118=)
c.899T= (p.Leu300=)
9g.127824892A>CCA374982449ENGc.353T>G (p.Leu118Arg)
c.899T>G (p.Leu300Arg)
dbSNP
9g.127824892A>GCA374982452ENGc.353T>C (p.Leu118Pro)
c.899T>C (p.Leu300Pro)
ClinVar dbSNP gnomAD v4
9g.127824892A>TCA374982455ENGc.353T>A (p.Leu118Gln)
c.899T>A (p.Leu300Gln)
9g.127824893G>ACA467474580ENGc.352C>T (p.Leu118=)
c.898C>T (p.Leu300=)
COSMIC COSMIC
9g.127824893G>CCA374982459ENGc.352C>G (p.Leu118Val)
c.898C>G (p.Leu300Val)
9g.127824893G>TCA374982463ENGc.352C>A (p.Leu118Met)
c.898C>A (p.Leu300Met)
9g.127824894G>ACA467474582ENGc.351C>T (p.Leu117=)
c.897C>T (p.Leu299=)
9g.127824894G>CCA467474586ENGc.351C>G (p.Leu117=)
c.897C>G (p.Leu299=)
9g.127824894G>TCA467474583ENGc.351C>A (p.Leu117=)
c.897C>A (p.Leu299=)
9g.127824895A=CA1879973663ENGc.350T= (p.Leu117=)
c.896T= (p.Leu299=)
9g.127824895A>CCA374982466ENGc.350T>G (p.Leu117Arg)
c.896T>G (p.Leu299Arg)
ClinVar dbSNP
9g.127824895A>GCA374982467ENGc.350T>C (p.Leu117Pro)
c.896T>C (p.Leu299Pro)
gnomAD v4
9g.127824895A>TCA374982470ENGc.350T>A (p.Leu117His)
c.896T>A (p.Leu299His)
9g.127824895_127824896delinsAGCA1879973661ENGc.349_350delinsCT (p.Leu117=)
c.895_896delinsCT (p.Leu299=)
9g.127824896G>ACA374982477ENGc.349C>T (p.Leu117Phe)
c.895C>T (p.Leu299Phe)
9g.127824896G>CCA374982480ENGc.349C>G (p.Leu117Val)
c.895C>G (p.Leu299Val)
ClinVar
9g.127824896G>TCA374982490ENGc.349C>A (p.Leu117Ile)
c.895C>A (p.Leu299Ile)
9g.127824897delCA16618748ENGc.349del (p.Leu117SerfsTer?)
c.895del (p.Leu299SerfsTer?)
ClinVar dbSNP
9g.127824897G>ACA467474590ENGc.348C>T (p.Gly116=)
c.894C>T (p.Gly298=)
9g.127824897G>CCA467474591ENGc.348C>G (p.Gly116=)
c.894C>G (p.Gly298=)
9g.127824897G>TCA467474593ENGc.348C>A (p.Gly116=)
c.894C>A (p.Gly298=)
9g.127824898C>ACA374982493ENGc.347G>T (p.Gly116Val)
c.893G>T (p.Gly298Val)
9g.127824898C>GCA374982496ENGc.347G>C (p.Gly116Ala)
c.893G>C (p.Gly298Ala)
9g.127824898C>TCA374982499ENGc.347G>A (p.Gly116Asp)
c.893G>A (p.Gly298Asp)
9g.127824899delCA2695211265ENGc.347del (p.Gly116AlafsTer?)
c.893del (p.Gly298AlafsTer?)
9g.127824899C>ACA374982502ENGc.346G>T (p.Gly116Cys)
c.892G>T (p.Gly298Cys)
9g.127824899C>GCA374982503ENGc.346G>C (p.Gly116Arg)
c.892G>C (p.Gly298Arg)
9g.127824899C>TCA374982504ENGc.346G>A (p.Gly116Ser)
c.892G>A (p.Gly298Ser)
COSMIC COSMIC
9g.127824900T>ACA374982508ENGc.345A>T (p.Gln115His)
c.891A>T (p.Gln297His)
9g.127824900T>CCA5252946ENGc.345A>G (p.Gln115=)
c.891A>G (p.Gln297=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127824900T>GCA374982509ENGc.345A>C (p.Gln115His)
c.891A>C (p.Gln297His)
9g.127824900T=CA1879973671ENGc.345A= (p.Gln115=)
c.891A= (p.Gln297=)
9g.127824901T>ACA374982512ENGc.344A>T (p.Gln115Leu)
c.890A>T (p.Gln297Leu)
9g.127824901T>CCA374982514ENGc.344A>G (p.Gln115Arg)
c.890A>G (p.Gln297Arg)
9g.127824901T>GCA5252947ENGc.344A>C (p.Gln115Pro)
c.890A>C (p.Gln297Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127824901T=CA1879973679ENGc.344A= (p.Gln115=)
c.890A= (p.Gln297=)
9g.127824902G>ACA374982518ENGc.343C>T (p.Gln115Ter)
c.889C>T (p.Gln297Ter)
9g.127824902G>CCA374982520ENGc.343C>G (p.Gln115Glu)
c.889C>G (p.Gln297Glu)
ClinVar dbSNP gnomAD v4
9g.127824902G=CA1879973686ENGc.343C= (p.Gln115=)
c.889C= (p.Gln297=)
9g.127824902G>TCA374982522ENGc.343C>A (p.Gln115Lys)
c.889C>A (p.Gln297Lys)
9g.127824903A>CCA467474606ENGc.342T>G (p.Pro114=)
c.888T>G (p.Pro296=)
9g.127824903A>GCA467474607ENGc.342T>C (p.Pro114=)
c.888T>C (p.Pro296=)
9g.127824903A>TCA467474604ENGc.342T>A (p.Pro114=)
c.888T>A (p.Pro296=)
9g.127824904G>ACA374982526ENGc.341C>T (p.Pro114Leu)
c.887C>T (p.Pro296Leu)
9g.127824904G>CCA374982528ENGc.341C>G (p.Pro114Arg)
c.887C>G (p.Pro296Arg)
9g.127824904G>TCA374982529ENGc.341C>A (p.Pro114His)
c.887C>A (p.Pro296His)
9g.127824905delCA2695211267ENGc.341del (p.Pro114LeufsTer?)
c.887del (p.Pro296LeufsTer?)
9g.127824905G>ACA374982531ENGc.340C>T (p.Pro114Ser)
c.886C>T (p.Pro296Ser)
gnomAD v4
9g.127824905G>CCA374982533ENGc.340C>G (p.Pro114Ala)
c.886C>G (p.Pro296Ala)
9g.127824905G>TCA374982535ENGc.340C>A (p.Pro114Thr)
c.886C>A (p.Pro296Thr)
9g.127824909_127824910delCA2580616313ENGc.339_340del (p.Pro114SerfsTer?)
c.885_886del (p.Pro296SerfsTer?)
ClinVar gnomAD v4
9g.127824906T>ACA467474609ENGc.339A>T (p.Thr113=)
c.885A>T (p.Thr295=)
9g.127824906T>CCA467474610ENGc.339A>G (p.Thr113=)
c.885A>G (p.Thr295=)
9g.127824906T>GCA467474611ENGc.339A>C (p.Thr113=)
c.885A>C (p.Thr295=)
9g.127824907G>ACA374982537ENGc.338C>T (p.Thr113Ile)
c.884C>T (p.Thr295Ile)
ClinVar dbSNP
9g.127824907G>CCA200313075ENGc.338C>G (p.Thr113Arg)
c.884C>G (p.Thr295Arg)
dbSNP
9g.127824907G=CA1879973698ENGc.338C= (p.Thr113=)
c.884C= (p.Thr295=)
9g.127824907G>TCA374982540ENGc.338C>A (p.Thr113Lys)
c.884C>A (p.Thr295Lys)
9g.127824908T>ACA374982542ENGc.337A>T (p.Thr113Ser)
c.883A>T (p.Thr295Ser)
9g.127824908T>CCA374982545ENGc.337A>G (p.Thr113Ala)
c.883A>G (p.Thr295Ala)
9g.127824908T>GCA374982544ENGc.337A>C (p.Thr113Pro)
c.883A>C (p.Thr295Pro)
9g.127824910_127824921delCA2573143970ENGc.326_337del (p.Lys109_Asp112del)
c.872_883del (p.Lys291_Asp294del)
ClinVar dbSNP
9g.127824909G>ACA467474622ENGc.336C>T (p.Asp112=)
c.882C>T (p.Asp294=)
9g.127824909G>CCA374982548ENGc.336C>G (p.Asp112Glu)
c.882C>G (p.Asp294Glu)
9g.127824909G>TCA374982550ENGc.336C>A (p.Asp112Glu)
c.882C>A (p.Asp294Glu)
9g.127824909_127824911delinsGTCCA1879973708ENGc.334_336delinsGAC (p.Asp112=)
c.880_882delinsGAC (p.Asp294=)
9g.127824910T>ACA374982553ENGc.335A>T (p.Asp112Val)
c.881A>T (p.Asp294Val)
9g.127824910T>CCA374982554ENGc.335A>G (p.Asp112Gly)
c.881A>G (p.Asp294Gly)
9g.127824910T>GCA374982557ENGc.335A>C (p.Asp112Ala)
c.881A>C (p.Asp294Ala)
gnomAD v4
9g.127824911_127824912delCA10604865ENGc.334_335del (p.Asp112HisfsTer?)
c.880_881del (p.Asp294HisfsTer?)
ClinVar dbSNP
9g.127824911C>ACA374982560ENGc.334G>T (p.Asp112Tyr)
c.880G>T (p.Asp294Tyr)
9g.127824911C>GCA374982562ENGc.334G>C (p.Asp112His)
c.880G>C (p.Asp294His)
9g.127824911C>TCA374982566ENGc.334G>A (p.Asp112Asn)
c.880G>A (p.Asp294Asn)
9g.127824912T>ACA467474628ENGc.333A>T (p.Pro111=)
c.879A>T (p.Pro293=)
9g.127824912T>CCA467474629ENGc.333A>G (p.Pro111=)
c.879A>G (p.Pro293=)
9g.127824912T>GCA467474631ENGc.333A>C (p.Pro111=)
c.879A>C (p.Pro293=)
9g.127824913G>ACA374982570ENGc.332C>T (p.Pro111Leu)
c.878C>T (p.Pro293Leu)
9g.127824913G>CCA374982573ENGc.332C>G (p.Pro111Arg)
c.878C>G (p.Pro293Arg)
9g.127824913G>TCA374982568ENGc.332C>A (p.Pro111Gln)
c.878C>A (p.Pro293Gln)
9g.127824915dupCA2695211270ENGc.332dup (p.Asp112ArgfsTer?)
c.878dup (p.Asp294ArgfsTer?)
9g.127824915delCA2580079640ENGc.332del (p.Pro111GlnfsTer?)
c.878del (p.Pro293GlnfsTer?)
ClinVar
9g.127824914G>ACA374982576ENGc.331C>T (p.Pro111Ser)
c.877C>T (p.Pro293Ser)
gnomAD v4
9g.127824914G>CCA374982578ENGc.331C>G (p.Pro111Ala)
c.877C>G (p.Pro293Ala)
9g.127824914G>TCA374982580ENGc.331C>A (p.Pro111Thr)
c.877C>A (p.Pro293Thr)
9g.127824915G>ACA467474634ENGc.330C>T (p.Leu110=)
c.876C>T (p.Leu292=)
9g.127824915G>CCA467474637ENGc.330C>G (p.Leu110=)
c.876C>G (p.Leu292=)
9g.127824915G>TCA467474636ENGc.330C>A (p.Leu110=)
c.876C>A (p.Leu292=)
9g.127824916A>CCA374982583ENGc.329T>G (p.Leu110Arg)
c.875T>G (p.Leu292Arg)
9g.127824916A>GCA374982586ENGc.329T>C (p.Leu110Pro)
c.875T>C (p.Leu292Pro)
9g.127824916A>TCA374982588ENGc.329T>A (p.Leu110His)
c.875T>A (p.Leu292His)
9g.127824916dupCA2580079641ENGc.329dup (p.Asp112ArgfsTer?)
c.875dup (p.Asp294ArgfsTer?)
ClinVar
9g.127824917G>ACA374982595ENGc.328C>T (p.Leu110Phe)
c.874C>T (p.Leu292Phe)
9g.127824917G>CCA374982591ENGc.328C>G (p.Leu110Val)
c.874C>G (p.Leu292Val)
9g.127824917G>TCA374982592ENGc.328C>A (p.Leu110Ile)
c.874C>A (p.Leu292Ile)
9g.127824917_127824919delinsACA2580079642ENGc.326_328delinsT (p.Lys109IlefsTer?)
c.872_874delinsT (p.Lys291IlefsTer?)
ClinVar
9g.127824918C>ACA374982597ENGc.327G>T (p.Lys109Asn)
c.873G>T (p.Lys291Asn)
9g.127824918C>GCA374982600ENGc.327G>C (p.Lys109Asn)
c.873G>C (p.Lys291Asn)
9g.127824918C>TCA467474645ENGc.327G>A (p.Lys109=)
c.873G>A (p.Lys291=)
9g.127824919T>ACA374982604ENGc.326A>T (p.Lys109Met)
c.872A>T (p.Lys291Met)
9g.127824919T>CCA374982605ENGc.326A>G (p.Lys109Arg)
c.872A>G (p.Lys291Arg)
9g.127824919T>GCA374982608ENGc.326A>C (p.Lys109Thr)
c.872A>C (p.Lys291Thr)
9g.127824920T>ACA374982612ENGc.325A>T (p.Lys109Ter)
c.871A>T (p.Lys291Ter)
9g.127824920T>CCA5252948ENGc.325A>G (p.Lys109Glu)
c.871A>G (p.Lys291Glu)
dbSNP ExAC gnomAD v4
9g.127824920T>GCA374982613ENGc.325A>C (p.Lys109Gln)
c.871A>C (p.Lys291Gln)
9g.127824920T=CA1879973717ENGc.325A= (p.Lys109=)
c.871A= (p.Lys291=)
9g.127824921G>ACA467474653ENGc.324C>T (p.Phe108=)
c.870C>T (p.Phe290=)
ClinVar dbSNP
9g.127824921G>CCA374982617ENGc.324C>G (p.Phe108Leu)
c.870C>G (p.Phe290Leu)
9g.127824921G=CA1879973728ENGc.324C= (p.Phe108=)
c.870C= (p.Phe290=)
9g.127824921G>TCA374982618ENGc.324C>A (p.Phe108Leu)
c.870C>A (p.Phe290Leu)
9g.127824922A>CCA374982622ENGc.323T>G (p.Phe108Cys)
c.869T>G (p.Phe290Cys)
9g.127824922A>GCA374982624ENGc.323T>C (p.Phe108Ser)
c.869T>C (p.Phe290Ser)
9g.127824922A>TCA374982627ENGc.323T>A (p.Phe108Tyr)
c.869T>A (p.Phe290Tyr)
9g.127824923A>CCA374982629ENGc.322T>G (p.Phe108Val)
c.868T>G (p.Phe290Val)
9g.127824923A>GCA374982631ENGc.322T>C (p.Phe108Leu)
c.868T>C (p.Phe290Leu)
9g.127824923A>TCA374982633ENGc.322T>A (p.Phe108Ile)
c.868T>A (p.Phe290Ile)
9g.127824924G>ACA467474660ENGc.321C>T (p.Gly107=)
c.867C>T (p.Gly289=)
ClinVar dbSNP
9g.127824924G>CCA467474661ENGc.321C>G (p.Gly107=)
c.867C>G (p.Gly289=)
9g.127824924G>TCA467474659ENGc.321C>A (p.Gly107=)
c.867C>A (p.Gly289=)
gnomAD v4
9g.127824925_127824929dupCA2499219640ENGc.317_321dup (p.Phe108ValfsTer?)
c.863_867dup (p.Phe290ValfsTer?)
ClinVar dbSNP
9g.127824925C>ACA374982635ENGc.320G>T (p.Gly107Val)
c.866G>T (p.Gly289Val)
9g.127824925C=CA1879973733ENGc.320G= (p.Gly107=)
c.866G= (p.Gly289=)
9g.127824925C>GCA374982636ENGc.320G>C (p.Gly107Ala)
c.866G>C (p.Gly289Ala)
9g.127824925C>TCA374982638ENGc.320G>A (p.Gly107Asp)
c.866G>A (p.Gly289Asp)
ClinVar dbSNP
9g.127824926C>ACA374982643ENGc.319G>T (p.Gly107Cys)
c.865G>T (p.Gly289Cys)
9g.127824926C>GCA374982642ENGc.319G>C (p.Gly107Arg)
c.865G>C (p.Gly289Arg)
9g.127824926C>TCA374982640ENGc.319G>A (p.Gly107Ser)
c.865G>A (p.Gly289Ser)
9g.127824927A>CCA467474668ENGc.318T>G (p.Arg106=)
c.864T>G (p.Arg288=)
9g.127824927A>GCA467474669ENGc.318T>C (p.Arg106=)
c.864T>C (p.Arg288=)
9g.127824927A>TCA467474672ENGc.318T>A (p.Arg106=)
c.864T>A (p.Arg288=)
9g.127824928C>ACA374982644ENGc.317G>T (p.Arg106Leu)
c.863G>T (p.Arg288Leu)
9g.127824928C=CA1879973744ENGc.317G= (p.Arg106=)
c.863G= (p.Arg288=)
9g.127824928C>GCA374982646ENGc.317G>C (p.Arg106Pro)
c.863G>C (p.Arg288Pro)
gnomAD v4
9g.127824928C>TCA5252949ENGc.317G>A (p.Arg106His)
c.863G>A (p.Arg288His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127824929G>ACA5252950ENGc.316C>T (p.Arg106Cys)
c.862C>T (p.Arg288Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
9g.127824929G>CCA374982649ENGc.316C>G (p.Arg106Gly)
c.862C>G (p.Arg288Gly)
9g.127824929G=CA1879973755ENGc.316C= (p.Arg106=)
c.862C= (p.Arg288=)
9g.127824929G>TCA374982655ENGc.316C>A (p.Arg106Ser)
c.862C>A (p.Arg288Ser)
gnomAD v4
9g.127824930A>CCA374982657ENGc.315T>G (p.Ile105Met)
c.861T>G (p.Ile287Met)
9g.127824930A>GCA467474679ENGc.315T>C (p.Ile105=)
c.861T>C (p.Ile287=)
9g.127824930A>TCA467474680ENGc.315T>A (p.Ile105=)
c.861T>A (p.Ile287=)
9g.127824931A>CCA374982658ENGc.314T>G (p.Ile105Ser)
c.860T>G (p.Ile287Ser)
9g.127824931A>GCA374982660ENGc.314T>C (p.Ile105Thr)
c.860T>C (p.Ile287Thr)
9g.127824931A>TCA374982662ENGc.314T>A (p.Ile105Asn)
c.860T>A (p.Ile287Asn)
9g.127824932T>ACA374982664ENGc.313A>T (p.Ile105Phe)
c.859A>T (p.Ile287Phe)
9g.127824932T>CCA374982666ENGc.313A>G (p.Ile105Val)
c.859A>G (p.Ile287Val)
dbSNP gnomAD v2 gnomAD v4
9g.127824932T>GCA374982668ENGc.313A>C (p.Ile105Leu)
c.859A>C (p.Ile287Leu)
9g.127824932T=CA1879973759ENGc.313A= (p.Ile105=)
c.859A= (p.Ile287=)
9g.127824933G>ACA467474690ENGc.312C>T (p.Asn104=)
c.858C>T (p.Asn286=)
ClinVar dbSNP gnomAD v2 gnomAD v4
9g.127824933G>CCA374982672ENGc.312C>G (p.Asn104Lys)
c.858C>G (p.Asn286Lys)
9g.127824933G=CA1879973764ENGc.312C= (p.Asn104=)
c.858C= (p.Asn286=)
9g.127824933G>TCA374982674ENGc.312C>A (p.Asn104Lys)
c.858C>A (p.Asn286Lys)
9g.127824934T>ACA374982681ENGc.311A>T (p.Asn104Ile)
c.857A>T (p.Asn286Ile)
9g.127824934T>CCA374982679ENGc.311A>G (p.Asn104Ser)
c.857A>G (p.Asn286Ser)
9g.127824934T>GCA374982676ENGc.311A>C (p.Asn104Thr)
c.857A>C (p.Asn286Thr)
9g.127824938delCA467474695ENGc.311del (p.Asn104ThrfsTer?)
c.857del (p.Asn286ThrfsTer?)
COSMIC
9g.127824935T>ACA374982682ENGc.310A>T (p.Asn104Tyr)
c.856A>T (p.Asn286Tyr)
9g.127824935T>CCA374982684ENGc.310A>G (p.Asn104Asp)
c.856A>G (p.Asn286Asp)
9g.127824935T>GCA374982686ENGc.310A>C (p.Asn104His)
c.856A>C (p.Asn286His)
9g.127824936T>ACA374982688ENGc.309A>T (p.Lys103Asn)
c.855A>T (p.Lys285Asn)
9g.127824936T>CCA467474703ENGc.309A>G (p.Lys103=)
c.855A>G (p.Lys285=)
9g.127824936T>GCA374982690ENGc.309A>C (p.Lys103Asn)
c.855A>C (p.Lys285Asn)
9g.127824937T>ACA374982693ENGc.308A>T (p.Lys103Ile)
c.854A>T (p.Lys285Ile)
9g.127824937T>CCA374982694ENGc.308A>G (p.Lys103Arg)
c.854A>G (p.Lys285Arg)
ClinVar gnomAD v4
9g.127824937T>GCA374982696ENGc.308A>C (p.Lys103Thr)
c.854A>C (p.Lys285Thr)
9g.127824938T>ACA374982699ENGc.307A>T (p.Lys103Ter)
c.853A>T (p.Lys285Ter)
9g.127824938T>CCA374982701ENGc.307A>G (p.Lys103Glu)
c.853A>G (p.Lys285Glu)
gnomAD v4
9g.127824938T>GCA374982703ENGc.307A>C (p.Lys103Gln)
c.853A>C (p.Lys285Gln)
9g.127824939C>ACA374982706ENGc.306G>T (p.Glu102Asp)
c.852G>T (p.Glu284Asp)
COSMIC
9g.127824939C>GCA374982709ENGc.306G>C (p.Glu102Asp)
c.852G>C (p.Glu284Asp)
9g.127824939C>TCA467474710ENGc.306G>A (p.Glu102=)
c.852G>A (p.Glu284=)
9g.127824940delCA2573143972ENGc.305del (p.Glu102GlyfsTer?)
c.851del (p.Glu284GlyfsTer?)
ClinVar dbSNP
9g.127824940T>ACA374982713ENGc.305A>T (p.Glu102Val)
c.851A>T (p.Glu284Val)
9g.127824940T>CCA374982715ENGc.305A>G (p.Glu102Gly)
c.851A>G (p.Glu284Gly)
9g.127824940T>GCA374982712ENGc.305A>C (p.Glu102Ala)
c.851A>C (p.Glu284Ala)

Number of alleles fetched