Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.23333970A>CCA483159268SACSc.9465T>G (p.Leu3155=)
c.9906T>G (p.Leu3302=)
c.9933T>G (p.Leu3311=)
c.9957T>G (p.Leu3319=)
c.9924T>G (p.Leu3308=)
c.9897T>G (p.Leu3299=)
c.7656T>G (p.Leu2552=)
n.1058-4486T>G (p.=)
n.2130-4486T>G
13g.23333970A>GCA483159269SACSc.9465T>C (p.Leu3155=)
c.9906T>C (p.Leu3302=)
c.9933T>C (p.Leu3311=)
c.9957T>C (p.Leu3319=)
c.9924T>C (p.Leu3308=)
c.9897T>C (p.Leu3299=)
c.7656T>C (p.Leu2552=)
n.1058-4486T>C (p.=)
n.2130-4486T>C
13g.23333970A>TCA483159271SACSc.9465T>A (p.Leu3155=)
c.9906T>A (p.Leu3302=)
c.9933T>A (p.Leu3311=)
c.9957T>A (p.Leu3319=)
c.9924T>A (p.Leu3308=)
c.9897T>A (p.Leu3299=)
c.7656T>A (p.Leu2552=)
n.1058-4486T>A (p.=)
n.2130-4486T>A
13g.23333971A>CCA387513399SACSc.9464T>G (p.Leu3155Arg)
c.9905T>G (p.Leu3302Arg)
c.9932T>G (p.Leu3311Arg)
c.9956T>G (p.Leu3319Arg)
c.9923T>G (p.Leu3308Arg)
c.9896T>G (p.Leu3299Arg)
c.7655T>G (p.Leu2552Arg)
n.1058-4487T>G (p.=)
n.2130-4487T>G
13g.23333971A>GCA387513401SACSc.9464T>C (p.Leu3155Pro)
c.9905T>C (p.Leu3302Pro)
c.9932T>C (p.Leu3311Pro)
c.9956T>C (p.Leu3319Pro)
c.9923T>C (p.Leu3308Pro)
c.9896T>C (p.Leu3299Pro)
c.7655T>C (p.Leu2552Pro)
n.1058-4487T>C (p.=)
n.2130-4487T>C
13g.23333971A>TCA387513400SACSc.9464T>A (p.Leu3155His)
c.9905T>A (p.Leu3302His)
c.9932T>A (p.Leu3311His)
c.9956T>A (p.Leu3319His)
c.9923T>A (p.Leu3308His)
c.9896T>A (p.Leu3299His)
c.7655T>A (p.Leu2552His)
n.1058-4487T>A (p.=)
n.2130-4487T>A
13g.23333972G>ACA387513402SACSc.9463C>T (p.Leu3155Phe)
c.9904C>T (p.Leu3302Phe)
c.9931C>T (p.Leu3311Phe)
c.9955C>T (p.Leu3319Phe)
c.9922C>T (p.Leu3308Phe)
c.9895C>T (p.Leu3299Phe)
c.7654C>T (p.Leu2552Phe)
n.1058-4488C>T (p.=)
n.2130-4488C>T
gnomAD
13g.23333972G>CCA387513403SACSc.9463C>G (p.Leu3155Val)
c.9904C>G (p.Leu3302Val)
c.9931C>G (p.Leu3311Val)
c.9955C>G (p.Leu3319Val)
c.9922C>G (p.Leu3308Val)
c.9895C>G (p.Leu3299Val)
c.7654C>G (p.Leu2552Val)
n.1058-4488C>G (p.=)
n.2130-4488C>G
13g.23333972G>TCA387513404SACSc.9463C>A (p.Leu3155Ile)
c.9904C>A (p.Leu3302Ile)
c.9931C>A (p.Leu3311Ile)
c.9955C>A (p.Leu3319Ile)
c.9922C>A (p.Leu3308Ile)
c.9895C>A (p.Leu3299Ile)
c.7654C>A (p.Leu2552Ile)
n.1058-4488C>A (p.=)
n.2130-4488C>A
COSMIC COSMIC
13g.23333973C>ACA6910543SACSc.9462G>T (p.Leu3154=)
c.9903G>T (p.Leu3301=)
c.9930G>T (p.Leu3310=)
c.9954G>T (p.Leu3318=)
c.9921G>T (p.Leu3307=)
c.9894G>T (p.Leu3298=)
c.7653G>T (p.Leu2551=)
n.1058-4489G>T (p.=)
n.2130-4489G>T
dbSNP ExAC gnomAD
13g.23333973C>GCA483159281SACSc.9462G>C (p.Leu3154=)
c.9903G>C (p.Leu3301=)
c.9930G>C (p.Leu3310=)
c.9954G>C (p.Leu3318=)
c.9921G>C (p.Leu3307=)
c.9894G>C (p.Leu3298=)
c.7653G>C (p.Leu2551=)
n.1058-4489G>C (p.=)
n.2130-4489G>C
13g.23333973C>TCA483159283SACSc.9462G>A (p.Leu3154=)
c.9903G>A (p.Leu3301=)
c.9930G>A (p.Leu3310=)
c.9954G>A (p.Leu3318=)
c.9921G>A (p.Leu3307=)
c.9894G>A (p.Leu3298=)
c.7653G>A (p.Leu2551=)
n.1058-4489G>A (p.=)
n.2130-4489G>A
13g.23333974A>CCA387513405SACSc.9461T>G (p.Leu3154Arg)
c.9902T>G (p.Leu3301Arg)
c.9929T>G (p.Leu3310Arg)
c.9953T>G (p.Leu3318Arg)
c.9920T>G (p.Leu3307Arg)
c.9893T>G (p.Leu3298Arg)
c.7652T>G (p.Leu2551Arg)
n.1058-4490T>G (p.=)
n.2130-4490T>G
13g.23333974A>GCA387513406SACSc.9461T>C (p.Leu3154Pro)
c.9902T>C (p.Leu3301Pro)
c.9929T>C (p.Leu3310Pro)
c.9953T>C (p.Leu3318Pro)
c.9920T>C (p.Leu3307Pro)
c.9893T>C (p.Leu3298Pro)
c.7652T>C (p.Leu2551Pro)
n.1058-4490T>C (p.=)
n.2130-4490T>C
13g.23333974A>TCA387513407SACSc.9461T>A (p.Leu3154Gln)
c.9902T>A (p.Leu3301Gln)
c.9929T>A (p.Leu3310Gln)
c.9953T>A (p.Leu3318Gln)
c.9920T>A (p.Leu3307Gln)
c.9893T>A (p.Leu3298Gln)
c.7652T>A (p.Leu2551Gln)
n.1058-4490T>A (p.=)
n.2130-4490T>A
13g.23333975G>ACA483159290SACSc.9460C>T (p.Leu3154=)
c.9901C>T (p.Leu3301=)
c.9928C>T (p.Leu3310=)
c.9952C>T (p.Leu3318=)
c.9919C>T (p.Leu3307=)
c.9892C>T (p.Leu3298=)
c.7651C>T (p.Leu2551=)
n.1058-4491C>T (p.=)
n.2130-4491C>T
13g.23333975G>CCA387513408SACSc.9460C>G (p.Leu3154Val)
c.9901C>G (p.Leu3301Val)
c.9928C>G (p.Leu3310Val)
c.9952C>G (p.Leu3318Val)
c.9919C>G (p.Leu3307Val)
c.9892C>G (p.Leu3298Val)
c.7651C>G (p.Leu2551Val)
n.1058-4491C>G (p.=)
n.2130-4491C>G
gnomAD
13g.23333975G>TCA387513409SACSc.9460C>A (p.Leu3154Met)
c.9901C>A (p.Leu3301Met)
c.9928C>A (p.Leu3310Met)
c.9952C>A (p.Leu3318Met)
c.9919C>A (p.Leu3307Met)
c.9892C>A (p.Leu3298Met)
c.7651C>A (p.Leu2551Met)
n.1058-4491C>A (p.=)
n.2130-4491C>A
13g.23333975_23333978delCA912980202SACSc.9457_9460del (p.Val3153CysfsTer24)
c.9898_9901del (p.Val3300CysfsTer24)
c.9925_9928del (p.Val3309CysfsTer24)
c.9949_9952del (p.Val3317CysfsTer24)
c.9916_9919del (p.Val3306CysfsTer24)
c.9889_9892del (p.Val3297CysfsTer24)
c.7648_7651del (p.Val2550CysfsTer24)
n.1058-4494_1058-4491del (p.=)
n.2130-4494_2130-4491del
13g.23333976A>CCA483159292SACSc.9459T>G (p.Val3153=)
c.9900T>G (p.Val3300=)
c.9927T>G (p.Val3309=)
c.9951T>G (p.Val3317=)
c.9918T>G (p.Val3306=)
c.9891T>G (p.Val3297=)
c.7650T>G (p.Val2550=)
n.1058-4492T>G (p.=)
n.2130-4492T>G
13g.23333976A>GCA483159293SACSc.9459T>C (p.Val3153=)
c.9900T>C (p.Val3300=)
c.9927T>C (p.Val3309=)
c.9951T>C (p.Val3317=)
c.9918T>C (p.Val3306=)
c.9891T>C (p.Val3297=)
c.7650T>C (p.Val2550=)
n.1058-4492T>C (p.=)
n.2130-4492T>C
13g.23333976A>TCA483159294SACSc.9459T>A (p.Val3153=)
c.9900T>A (p.Val3300=)
c.9927T>A (p.Val3309=)
c.9951T>A (p.Val3317=)
c.9918T>A (p.Val3306=)
c.9891T>A (p.Val3297=)
c.7650T>A (p.Val2550=)
n.1058-4492T>A (p.=)
n.2130-4492T>A
13g.23333976_23333978delCA6910544SACSc.9456_9458del (p.Val3153del)
c.9897_9899del (p.Val3300del)
c.9924_9926del (p.Val3309del)
c.9948_9950del (p.Val3317del)
c.9915_9917del (p.Val3306del)
c.9888_9890del (p.Val3297del)
c.7647_7649del (p.Val2550del)
n.1058-4495_1058-4493del (p.=)
n.2130-4495_2130-4493del
ClinVar dbSNP ExAC gnomAD
13g.23333977A>CCA387513410SACSc.9458T>G (p.Val3153Gly)
c.9899T>G (p.Val3300Gly)
c.9926T>G (p.Val3309Gly)
c.9950T>G (p.Val3317Gly)
c.9917T>G (p.Val3306Gly)
c.9890T>G (p.Val3297Gly)
c.7649T>G (p.Val2550Gly)
n.1058-4493T>G (p.=)
n.2130-4493T>G
13g.23333977A>GCA387513411SACSc.9458T>C (p.Val3153Ala)
c.9899T>C (p.Val3300Ala)
c.9926T>C (p.Val3309Ala)
c.9950T>C (p.Val3317Ala)
c.9917T>C (p.Val3306Ala)
c.9890T>C (p.Val3297Ala)
c.7649T>C (p.Val2550Ala)
n.1058-4493T>C (p.=)
n.2130-4493T>C
13g.23333977A>TCA387513412SACSc.9458T>A (p.Val3153Asp)
c.9899T>A (p.Val3300Asp)
c.9926T>A (p.Val3309Asp)
c.9950T>A (p.Val3317Asp)
c.9917T>A (p.Val3306Asp)
c.9890T>A (p.Val3297Asp)
c.7649T>A (p.Val2550Asp)
n.1058-4493T>A (p.=)
n.2130-4493T>A
13g.23333978C>ACA387513415SACSc.9457G>T (p.Val3153Phe)
c.9898G>T (p.Val3300Phe)
c.9925G>T (p.Val3309Phe)
c.9949G>T (p.Val3317Phe)
c.9916G>T (p.Val3306Phe)
c.9889G>T (p.Val3297Phe)
c.7648G>T (p.Val2550Phe)
n.1058-4494G>T (p.=)
n.2130-4494G>T
gnomAD
13g.23333978C>GCA387513413SACSc.9457G>C (p.Val3153Leu)
c.9898G>C (p.Val3300Leu)
c.9925G>C (p.Val3309Leu)
c.9949G>C (p.Val3317Leu)
c.9916G>C (p.Val3306Leu)
c.9889G>C (p.Val3297Leu)
c.7648G>C (p.Val2550Leu)
n.1058-4494G>C (p.=)
n.2130-4494G>C
13g.23333978C>TCA387513414SACSc.9457G>A (p.Val3153Ile)
c.9898G>A (p.Val3300Ile)
c.9925G>A (p.Val3309Ile)
c.9949G>A (p.Val3317Ile)
c.9916G>A (p.Val3306Ile)
c.9889G>A (p.Val3297Ile)
c.7648G>A (p.Val2550Ile)
n.1058-4494G>A (p.=)
n.2130-4494G>A
13g.23333979A>CCA387513416SACSc.9456T>G (p.Asp3152Glu)
c.9897T>G (p.Asp3299Glu)
c.9924T>G (p.Asp3308Glu)
c.9948T>G (p.Asp3316Glu)
c.9915T>G (p.Asp3305Glu)
c.9888T>G (p.Asp3296Glu)
c.7647T>G (p.Asp2549Glu)
n.1058-4495T>G (p.=)
n.2130-4495T>G
13g.23333979A>GCA483159303SACSc.9456T>C (p.Asp3152=)
c.9897T>C (p.Asp3299=)
c.9924T>C (p.Asp3308=)
c.9948T>C (p.Asp3316=)
c.9915T>C (p.Asp3305=)
c.9888T>C (p.Asp3296=)
c.7647T>C (p.Asp2549=)
n.1058-4495T>C (p.=)
n.2130-4495T>C
13g.23333979A>TCA387513417SACSc.9456T>A (p.Asp3152Glu)
c.9897T>A (p.Asp3299Glu)
c.9924T>A (p.Asp3308Glu)
c.9948T>A (p.Asp3316Glu)
c.9915T>A (p.Asp3305Glu)
c.9888T>A (p.Asp3296Glu)
c.7647T>A (p.Asp2549Glu)
n.1058-4495T>A (p.=)
n.2130-4495T>A
13g.23333980T>ACA387513418SACSc.9455A>T (p.Asp3152Val)
c.9896A>T (p.Asp3299Val)
c.9923A>T (p.Asp3308Val)
c.9947A>T (p.Asp3316Val)
c.9914A>T (p.Asp3305Val)
c.9887A>T (p.Asp3296Val)
c.7646A>T (p.Asp2549Val)
n.1058-4496A>T (p.=)
n.2130-4496A>T
gnomAD
13g.23333980T>CCA387513419SACSc.9455A>G (p.Asp3152Gly)
c.9896A>G (p.Asp3299Gly)
c.9923A>G (p.Asp3308Gly)
c.9947A>G (p.Asp3316Gly)
c.9914A>G (p.Asp3305Gly)
c.9887A>G (p.Asp3296Gly)
c.7646A>G (p.Asp2549Gly)
n.1058-4496A>G (p.=)
n.2130-4496A>G
13g.23333980T>GCA387513420SACSc.9455A>C (p.Asp3152Ala)
c.9896A>C (p.Asp3299Ala)
c.9923A>C (p.Asp3308Ala)
c.9947A>C (p.Asp3316Ala)
c.9914A>C (p.Asp3305Ala)
c.9887A>C (p.Asp3296Ala)
c.7646A>C (p.Asp2549Ala)
n.1058-4496A>C (p.=)
n.2130-4496A>C
13g.23333980_23333983delCA912980203SACSc.9452_9455del (p.Gly3151ValfsTer26)
c.9893_9896del (p.Gly3298ValfsTer26)
c.9920_9923del (p.Gly3307ValfsTer26)
c.9944_9947del (p.Gly3315ValfsTer26)
c.9911_9914del (p.Gly3304ValfsTer26)
c.9884_9887del (p.Gly3295ValfsTer26)
c.7643_7646del (p.Gly2548ValfsTer26)
n.1058-4499_1058-4496del (p.=)
n.2130-4499_2130-4496del
13g.23333981C>ACA387513421SACSc.9454G>T (p.Asp3152Tyr)
c.9895G>T (p.Asp3299Tyr)
c.9922G>T (p.Asp3308Tyr)
c.9946G>T (p.Asp3316Tyr)
c.9913G>T (p.Asp3305Tyr)
c.9886G>T (p.Asp3296Tyr)
c.7645G>T (p.Asp2549Tyr)
n.1058-4497G>T (p.=)
n.2130-4497G>T
13g.23333981C>GCA387513422SACSc.9454G>C (p.Asp3152His)
c.9895G>C (p.Asp3299His)
c.9922G>C (p.Asp3308His)
c.9946G>C (p.Asp3316His)
c.9913G>C (p.Asp3305His)
c.9886G>C (p.Asp3296His)
c.7645G>C (p.Asp2549His)
n.1058-4497G>C (p.=)
n.2130-4497G>C
13g.23333981C>TCA387513423SACSc.9454G>A (p.Asp3152Asn)
c.9895G>A (p.Asp3299Asn)
c.9922G>A (p.Asp3308Asn)
c.9946G>A (p.Asp3316Asn)
c.9913G>A (p.Asp3305Asn)
c.9886G>A (p.Asp3296Asn)
c.7645G>A (p.Asp2549Asn)
n.1058-4497G>A (p.=)
n.2130-4497G>A
13g.23333981_23333983delCA608985233SACSc.9450_9452del (p.Gly3151del)
c.9891_9893del (p.Gly3298del)
c.9918_9920del (p.Gly3307del)
c.9942_9944del (p.Gly3315del)
c.9909_9911del (p.Gly3304del)
c.9882_9884del (p.Gly3295del)
c.7641_7643del (p.Gly2548del)
n.1058-4501_1058-4499del (p.=)
n.2130-4501_2130-4499del
ClinVar dbSNP gnomAD
13g.23333982T>ACA483159310SACSc.9453A>T (p.Gly3151=)
c.9894A>T (p.Gly3298=)
c.9921A>T (p.Gly3307=)
c.9945A>T (p.Gly3315=)
c.9912A>T (p.Gly3304=)
c.9885A>T (p.Gly3295=)
c.7644A>T (p.Gly2548=)
n.1058-4498A>T (p.=)
n.2130-4498A>T
13g.23333982T>CCA483159309SACSc.9453A>G (p.Gly3151=)
c.9894A>G (p.Gly3298=)
c.9921A>G (p.Gly3307=)
c.9945A>G (p.Gly3315=)
c.9912A>G (p.Gly3304=)
c.9885A>G (p.Gly3295=)
c.7644A>G (p.Gly2548=)
n.1058-4498A>G (p.=)
n.2130-4498A>G
13g.23333982T>GCA483159308SACSc.9453A>C (p.Gly3151=)
c.9894A>C (p.Gly3298=)
c.9921A>C (p.Gly3307=)
c.9945A>C (p.Gly3315=)
c.9912A>C (p.Gly3304=)
c.9885A>C (p.Gly3295=)
c.7644A>C (p.Gly2548=)
n.1058-4498A>C (p.=)
n.2130-4498A>C
13g.23333983C>ACA387513424SACSc.9452G>T (p.Gly3151Val)
c.9893G>T (p.Gly3298Val)
c.9920G>T (p.Gly3307Val)
c.9944G>T (p.Gly3315Val)
c.9911G>T (p.Gly3304Val)
c.9884G>T (p.Gly3295Val)
c.7643G>T (p.Gly2548Val)
n.1058-4499G>T (p.=)
n.2130-4499G>T
13g.23333983C>GCA387513425SACSc.9452G>C (p.Gly3151Ala)
c.9893G>C (p.Gly3298Ala)
c.9920G>C (p.Gly3307Ala)
c.9944G>C (p.Gly3315Ala)
c.9911G>C (p.Gly3304Ala)
c.9884G>C (p.Gly3295Ala)
c.7643G>C (p.Gly2548Ala)
n.1058-4499G>C (p.=)
n.2130-4499G>C
13g.23333983C>TCA387513426SACSc.9452G>A (p.Gly3151Glu)
c.9893G>A (p.Gly3298Glu)
c.9920G>A (p.Gly3307Glu)
c.9944G>A (p.Gly3315Glu)
c.9911G>A (p.Gly3304Glu)
c.9884G>A (p.Gly3295Glu)
c.7643G>A (p.Gly2548Glu)
n.1058-4499G>A (p.=)
n.2130-4499G>A
13g.23333984C>ACA387513429SACSc.9451G>T (p.Gly3151Ter)
c.9892G>T (p.Gly3298Ter)
c.9919G>T (p.Gly3307Ter)
c.9943G>T (p.Gly3315Ter)
c.9910G>T (p.Gly3304Ter)
c.9883G>T (p.Gly3295Ter)
c.7642G>T (p.Gly2548Ter)
n.1058-4500G>T (p.=)
n.2130-4500G>T
13g.23333984C>GCA387513428SACSc.9451G>C (p.Gly3151Arg)
c.9892G>C (p.Gly3298Arg)
c.9919G>C (p.Gly3307Arg)
c.9943G>C (p.Gly3315Arg)
c.9910G>C (p.Gly3304Arg)
c.9883G>C (p.Gly3295Arg)
c.7642G>C (p.Gly2548Arg)
n.1058-4500G>C (p.=)
n.2130-4500G>C
13g.23333984C>TCA387513427SACSc.9451G>A (p.Gly3151Arg)
c.9892G>A (p.Gly3298Arg)
c.9919G>A (p.Gly3307Arg)
c.9943G>A (p.Gly3315Arg)
c.9910G>A (p.Gly3304Arg)
c.9883G>A (p.Gly3295Arg)
c.7642G>A (p.Gly2548Arg)
n.1058-4500G>A (p.=)
n.2130-4500G>A
13g.23333985T>ACA387513430SACSc.9450A>T (p.Glu3150Asp)
c.9891A>T (p.Glu3297Asp)
c.9918A>T (p.Glu3306Asp)
c.9942A>T (p.Glu3314Asp)
c.9909A>T (p.Glu3303Asp)
c.9882A>T (p.Glu3294Asp)
c.7641A>T (p.Glu2547Asp)
n.1058-4501A>T (p.=)
n.2130-4501A>T

Number of alleles fetched