Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.23333954G>ACA387513364SACSc.9481C>T (p.His3161Tyr)
c.9922C>T (p.His3308Tyr)
c.9949C>T (p.His3317Tyr)
c.9973C>T (p.His3325Tyr)
c.9940C>T (p.His3314Tyr)
c.9913C>T (p.His3305Tyr)
c.7672C>T (p.His2558Tyr)
n.1058-4470C>T (p.=)
n.2130-4470C>T
13g.23333954G>CCA387513365SACSc.9481C>G (p.His3161Asp)
c.9922C>G (p.His3308Asp)
c.9949C>G (p.His3317Asp)
c.9973C>G (p.His3325Asp)
c.9940C>G (p.His3314Asp)
c.9913C>G (p.His3305Asp)
c.7672C>G (p.His2558Asp)
n.1058-4470C>G (p.=)
n.2130-4470C>G
gnomAD
13g.23333954G>TCA387513366SACSc.9481C>A (p.His3161Asn)
c.9922C>A (p.His3308Asn)
c.9949C>A (p.His3317Asn)
c.9973C>A (p.His3325Asn)
c.9940C>A (p.His3314Asn)
c.9913C>A (p.His3305Asn)
c.7672C>A (p.His2558Asn)
n.1058-4470C>A (p.=)
n.2130-4470C>A
13g.23333955C>ACA387513367SACSc.9480G>T (p.Met3160Ile)
c.9921G>T (p.Met3307Ile)
c.9948G>T (p.Met3316Ile)
c.9972G>T (p.Met3324Ile)
c.9939G>T (p.Met3313Ile)
c.9912G>T (p.Met3304Ile)
c.7671G>T (p.Met2557Ile)
n.1058-4471G>T (p.=)
n.2130-4471G>T
13g.23333955C>GCA387513368SACSc.9480G>C (p.Met3160Ile)
c.9921G>C (p.Met3307Ile)
c.9948G>C (p.Met3316Ile)
c.9972G>C (p.Met3324Ile)
c.9939G>C (p.Met3313Ile)
c.9912G>C (p.Met3304Ile)
c.7671G>C (p.Met2557Ile)
n.1058-4471G>C (p.=)
n.2130-4471G>C
13g.23333955C>TCA387513369SACSc.9480G>A (p.Met3160Ile)
c.9921G>A (p.Met3307Ile)
c.9948G>A (p.Met3316Ile)
c.9972G>A (p.Met3324Ile)
c.9939G>A (p.Met3313Ile)
c.9912G>A (p.Met3304Ile)
c.7671G>A (p.Met2557Ile)
n.1058-4471G>A (p.=)
n.2130-4471G>A
gnomAD
13g.23333956A>CCA387513371SACSc.9479T>G (p.Met3160Arg)
c.9920T>G (p.Met3307Arg)
c.9947T>G (p.Met3316Arg)
c.9971T>G (p.Met3324Arg)
c.9938T>G (p.Met3313Arg)
c.9911T>G (p.Met3304Arg)
c.7670T>G (p.Met2557Arg)
n.1058-4472T>G (p.=)
n.2130-4472T>G
13g.23333956A>GCA387513372SACSc.9479T>C (p.Met3160Thr)
c.9920T>C (p.Met3307Thr)
c.9947T>C (p.Met3316Thr)
c.9971T>C (p.Met3324Thr)
c.9938T>C (p.Met3313Thr)
c.9911T>C (p.Met3304Thr)
c.7670T>C (p.Met2557Thr)
n.1058-4472T>C (p.=)
n.2130-4472T>C
13g.23333956A>TCA387513370SACSc.9479T>A (p.Met3160Lys)
c.9920T>A (p.Met3307Lys)
c.9947T>A (p.Met3316Lys)
c.9971T>A (p.Met3324Lys)
c.9938T>A (p.Met3313Lys)
c.9911T>A (p.Met3304Lys)
c.7670T>A (p.Met2557Lys)
n.1058-4472T>A (p.=)
n.2130-4472T>A
13g.23333957T>ACA387513373SACSc.9478A>T (p.Met3160Leu)
c.9919A>T (p.Met3307Leu)
c.9946A>T (p.Met3316Leu)
c.9970A>T (p.Met3324Leu)
c.9937A>T (p.Met3313Leu)
c.9910A>T (p.Met3304Leu)
c.7669A>T (p.Met2557Leu)
n.1058-4473A>T (p.=)
n.2130-4473A>T
13g.23333957T>CCA6910539SACSc.9478A>G (p.Met3160Val)
c.9919A>G (p.Met3307Val)
c.9946A>G (p.Met3316Val)
c.9970A>G (p.Met3324Val)
c.9937A>G (p.Met3313Val)
c.9910A>G (p.Met3304Val)
c.7669A>G (p.Met2557Val)
n.1058-4473A>G (p.=)
n.2130-4473A>G
dbSNP ExAC gnomAD
13g.23333957T>GCA6910540SACSc.9478A>C (p.Met3160Leu)
c.9919A>C (p.Met3307Leu)
c.9946A>C (p.Met3316Leu)
c.9970A>C (p.Met3324Leu)
c.9937A>C (p.Met3313Leu)
c.9910A>C (p.Met3304Leu)
c.7669A>C (p.Met2557Leu)
n.1058-4473A>C (p.=)
n.2130-4473A>C
dbSNP ExAC gnomAD
13g.23333958A>CCA483159236SACSc.9477T>G (p.Leu3159=)
c.9918T>G (p.Leu3306=)
c.9945T>G (p.Leu3315=)
c.9969T>G (p.Leu3323=)
c.9936T>G (p.Leu3312=)
c.9909T>G (p.Leu3303=)
c.7668T>G (p.Leu2556=)
n.1058-4474T>G (p.=)
n.2130-4474T>G
13g.23333958A>GCA483159237SACSc.9477T>C (p.Leu3159=)
c.9918T>C (p.Leu3306=)
c.9945T>C (p.Leu3315=)
c.9969T>C (p.Leu3323=)
c.9936T>C (p.Leu3312=)
c.9909T>C (p.Leu3303=)
c.7668T>C (p.Leu2556=)
n.1058-4474T>C (p.=)
n.2130-4474T>C
13g.23333958A>TCA483159238SACSc.9477T>A (p.Leu3159=)
c.9918T>A (p.Leu3306=)
c.9945T>A (p.Leu3315=)
c.9969T>A (p.Leu3323=)
c.9936T>A (p.Leu3312=)
c.9909T>A (p.Leu3303=)
c.7668T>A (p.Leu2556=)
n.1058-4474T>A (p.=)
n.2130-4474T>A
13g.23333959A>CCA387513374SACSc.9476T>G (p.Leu3159Arg)
c.9917T>G (p.Leu3306Arg)
c.9944T>G (p.Leu3315Arg)
c.9968T>G (p.Leu3323Arg)
c.9935T>G (p.Leu3312Arg)
c.9908T>G (p.Leu3303Arg)
c.7667T>G (p.Leu2556Arg)
n.1058-4475T>G (p.=)
n.2130-4475T>G
13g.23333959A>GCA387513375SACSc.9476T>C (p.Leu3159Pro)
c.9917T>C (p.Leu3306Pro)
c.9944T>C (p.Leu3315Pro)
c.9968T>C (p.Leu3323Pro)
c.9935T>C (p.Leu3312Pro)
c.9908T>C (p.Leu3303Pro)
c.7667T>C (p.Leu2556Pro)
n.1058-4475T>C (p.=)
n.2130-4475T>C
13g.23333959A>TCA387513376SACSc.9476T>A (p.Leu3159His)
c.9917T>A (p.Leu3306His)
c.9944T>A (p.Leu3315His)
c.9968T>A (p.Leu3323His)
c.9935T>A (p.Leu3312His)
c.9908T>A (p.Leu3303His)
c.7667T>A (p.Leu2556His)
n.1058-4475T>A (p.=)
n.2130-4475T>A
13g.23333960G>ACA387513379SACSc.9475C>T (p.Leu3159Phe)
c.9916C>T (p.Leu3306Phe)
c.9943C>T (p.Leu3315Phe)
c.9967C>T (p.Leu3323Phe)
c.9934C>T (p.Leu3312Phe)
c.9907C>T (p.Leu3303Phe)
c.7666C>T (p.Leu2556Phe)
n.1058-4476C>T (p.=)
n.2130-4476C>T
13g.23333960G>CCA387513377SACSc.9475C>G (p.Leu3159Val)
c.9916C>G (p.Leu3306Val)
c.9943C>G (p.Leu3315Val)
c.9967C>G (p.Leu3323Val)
c.9934C>G (p.Leu3312Val)
c.9907C>G (p.Leu3303Val)
c.7666C>G (p.Leu2556Val)
n.1058-4476C>G (p.=)
n.2130-4476C>G
13g.23333960G>TCA387513378SACSc.9475C>A (p.Leu3159Ile)
c.9916C>A (p.Leu3306Ile)
c.9943C>A (p.Leu3315Ile)
c.9967C>A (p.Leu3323Ile)
c.9934C>A (p.Leu3312Ile)
c.9907C>A (p.Leu3303Ile)
c.7666C>A (p.Leu2556Ile)
n.1058-4476C>A (p.=)
n.2130-4476C>A
13g.23333961G>ACA6910541SACSc.9474C>T (p.Ser3158=)
c.9915C>T (p.Ser3305=)
c.9942C>T (p.Ser3314=)
c.9966C>T (p.Ser3322=)
c.9933C>T (p.Ser3311=)
c.9906C>T (p.Ser3302=)
c.7665C>T (p.Ser2555=)
n.1058-4477C>T (p.=)
n.2130-4477C>T
dbSNP ExAC gnomAD
13g.23333961G>CCA387513380SACSc.9474C>G (p.Ser3158Arg)
c.9915C>G (p.Ser3305Arg)
c.9942C>G (p.Ser3314Arg)
c.9966C>G (p.Ser3322Arg)
c.9933C>G (p.Ser3311Arg)
c.9906C>G (p.Ser3302Arg)
c.7665C>G (p.Ser2555Arg)
n.1058-4477C>G (p.=)
n.2130-4477C>G
13g.23333961G>TCA387513381SACSc.9474C>A (p.Ser3158Arg)
c.9915C>A (p.Ser3305Arg)
c.9942C>A (p.Ser3314Arg)
c.9966C>A (p.Ser3322Arg)
c.9933C>A (p.Ser3311Arg)
c.9906C>A (p.Ser3302Arg)
c.7665C>A (p.Ser2555Arg)
n.1058-4477C>A (p.=)
n.2130-4477C>A
13g.23333962C>ACA387513382SACSc.9473G>T (p.Ser3158Ile)
c.9914G>T (p.Ser3305Ile)
c.9941G>T (p.Ser3314Ile)
c.9965G>T (p.Ser3322Ile)
c.9932G>T (p.Ser3311Ile)
c.9905G>T (p.Ser3302Ile)
c.7664G>T (p.Ser2555Ile)
n.1058-4478G>T (p.=)
n.2130-4478G>T
13g.23333962C>GCA387513383SACSc.9473G>C (p.Ser3158Thr)
c.9914G>C (p.Ser3305Thr)
c.9941G>C (p.Ser3314Thr)
c.9965G>C (p.Ser3322Thr)
c.9932G>C (p.Ser3311Thr)
c.9905G>C (p.Ser3302Thr)
c.7664G>C (p.Ser2555Thr)
n.1058-4478G>C (p.=)
n.2130-4478G>C
13g.23333962C>TCA387513384SACSc.9473G>A (p.Ser3158Asn)
c.9914G>A (p.Ser3305Asn)
c.9941G>A (p.Ser3314Asn)
c.9965G>A (p.Ser3322Asn)
c.9932G>A (p.Ser3311Asn)
c.9905G>A (p.Ser3302Asn)
c.7664G>A (p.Ser2555Asn)
n.1058-4478G>A (p.=)
n.2130-4478G>A
13g.23333963T>ACA387513385SACSc.9472A>T (p.Ser3158Cys)
c.9913A>T (p.Ser3305Cys)
c.9940A>T (p.Ser3314Cys)
c.9964A>T (p.Ser3322Cys)
c.9931A>T (p.Ser3311Cys)
c.9904A>T (p.Ser3302Cys)
c.7663A>T (p.Ser2555Cys)
n.1058-4479A>T (p.=)
n.2130-4479A>T
13g.23333963T>CCA387513387SACSc.9472A>G (p.Ser3158Gly)
c.9913A>G (p.Ser3305Gly)
c.9940A>G (p.Ser3314Gly)
c.9964A>G (p.Ser3322Gly)
c.9931A>G (p.Ser3311Gly)
c.9904A>G (p.Ser3302Gly)
c.7663A>G (p.Ser2555Gly)
n.1058-4479A>G (p.=)
n.2130-4479A>G
gnomAD
13g.23333963T>GCA387513386SACSc.9472A>C (p.Ser3158Arg)
c.9913A>C (p.Ser3305Arg)
c.9940A>C (p.Ser3314Arg)
c.9964A>C (p.Ser3322Arg)
c.9931A>C (p.Ser3311Arg)
c.9904A>C (p.Ser3302Arg)
c.7663A>C (p.Ser2555Arg)
n.1058-4479A>C (p.=)
n.2130-4479A>C
13g.23333964G>ACA483159247SACSc.9471C>T (p.Leu3157=)
c.9912C>T (p.Leu3304=)
c.9939C>T (p.Leu3313=)
c.9963C>T (p.Leu3321=)
c.9930C>T (p.Leu3310=)
c.9903C>T (p.Leu3301=)
c.7662C>T (p.Leu2554=)
n.1058-4480C>T (p.=)
n.2130-4480C>T
ClinVar
13g.23333964G>CCA483159248SACSc.9471C>G (p.Leu3157=)
c.9912C>G (p.Leu3304=)
c.9939C>G (p.Leu3313=)
c.9963C>G (p.Leu3321=)
c.9930C>G (p.Leu3310=)
c.9903C>G (p.Leu3301=)
c.7662C>G (p.Leu2554=)
n.1058-4480C>G (p.=)
n.2130-4480C>G
COSMIC COSMIC
13g.23333964G>TCA483159249SACSc.9471C>A (p.Leu3157=)
c.9912C>A (p.Leu3304=)
c.9939C>A (p.Leu3313=)
c.9963C>A (p.Leu3321=)
c.9930C>A (p.Leu3310=)
c.9903C>A (p.Leu3301=)
c.7662C>A (p.Leu2554=)
n.1058-4480C>A (p.=)
n.2130-4480C>A
13g.23333965A>CCA387513388SACSc.9470T>G (p.Leu3157Arg)
c.9911T>G (p.Leu3304Arg)
c.9938T>G (p.Leu3313Arg)
c.9962T>G (p.Leu3321Arg)
c.9929T>G (p.Leu3310Arg)
c.9902T>G (p.Leu3301Arg)
c.7661T>G (p.Leu2554Arg)
n.1058-4481T>G (p.=)
n.2130-4481T>G
13g.23333965A>GCA387513389SACSc.9470T>C (p.Leu3157Pro)
c.9911T>C (p.Leu3304Pro)
c.9938T>C (p.Leu3313Pro)
c.9962T>C (p.Leu3321Pro)
c.9929T>C (p.Leu3310Pro)
c.9902T>C (p.Leu3301Pro)
c.7661T>C (p.Leu2554Pro)
n.1058-4481T>C (p.=)
n.2130-4481T>C
13g.23333965A>TCA387513390SACSc.9470T>A (p.Leu3157His)
c.9911T>A (p.Leu3304His)
c.9938T>A (p.Leu3313His)
c.9962T>A (p.Leu3321His)
c.9929T>A (p.Leu3310His)
c.9902T>A (p.Leu3301His)
c.7661T>A (p.Leu2554His)
n.1058-4481T>A (p.=)
n.2130-4481T>A
13g.23333966G>ACA387513391SACSc.9469C>T (p.Leu3157Phe)
c.9910C>T (p.Leu3304Phe)
c.9937C>T (p.Leu3313Phe)
c.9961C>T (p.Leu3321Phe)
c.9928C>T (p.Leu3310Phe)
c.9901C>T (p.Leu3301Phe)
c.7660C>T (p.Leu2554Phe)
n.1058-4482C>T (p.=)
n.2130-4482C>T
gnomAD
13g.23333966G>CCA387513392SACSc.9469C>G (p.Leu3157Val)
c.9910C>G (p.Leu3304Val)
c.9937C>G (p.Leu3313Val)
c.9961C>G (p.Leu3321Val)
c.9928C>G (p.Leu3310Val)
c.9901C>G (p.Leu3301Val)
c.7660C>G (p.Leu2554Val)
n.1058-4482C>G (p.=)
n.2130-4482C>G
13g.23333966G>TCA387513393SACSc.9469C>A (p.Leu3157Ile)
c.9910C>A (p.Leu3304Ile)
c.9937C>A (p.Leu3313Ile)
c.9961C>A (p.Leu3321Ile)
c.9928C>A (p.Leu3310Ile)
c.9901C>A (p.Leu3301Ile)
c.7660C>A (p.Leu2554Ile)
n.1058-4482C>A (p.=)
n.2130-4482C>A
13g.23333967A>CCA483159257SACSc.9468T>G (p.Pro3156=)
c.9909T>G (p.Pro3303=)
c.9936T>G (p.Pro3312=)
c.9960T>G (p.Pro3320=)
c.9927T>G (p.Pro3309=)
c.9900T>G (p.Pro3300=)
c.7659T>G (p.Pro2553=)
n.1058-4483T>G (p.=)
n.2130-4483T>G
13g.23333967A>GCA246652926SACSc.9468T>C (p.Pro3156=)
c.9909T>C (p.Pro3303=)
c.9936T>C (p.Pro3312=)
c.9960T>C (p.Pro3320=)
c.9927T>C (p.Pro3309=)
c.9900T>C (p.Pro3300=)
c.7659T>C (p.Pro2553=)
n.1058-4483T>C (p.=)
n.2130-4483T>C
dbSNP
13g.23333967A>TCA483159258SACSc.9468T>A (p.Pro3156=)
c.9909T>A (p.Pro3303=)
c.9936T>A (p.Pro3312=)
c.9960T>A (p.Pro3320=)
c.9927T>A (p.Pro3309=)
c.9900T>A (p.Pro3300=)
c.7659T>A (p.Pro2553=)
n.1058-4483T>A (p.=)
n.2130-4483T>A
13g.23333968G>ACA387513394SACSc.9467C>T (p.Pro3156Leu)
c.9908C>T (p.Pro3303Leu)
c.9935C>T (p.Pro3312Leu)
c.9959C>T (p.Pro3320Leu)
c.9926C>T (p.Pro3309Leu)
c.9899C>T (p.Pro3300Leu)
c.7658C>T (p.Pro2553Leu)
n.1058-4484C>T (p.=)
n.2130-4484C>T
13g.23333968G>CCA387513395SACSc.9467C>G (p.Pro3156Arg)
c.9908C>G (p.Pro3303Arg)
c.9935C>G (p.Pro3312Arg)
c.9959C>G (p.Pro3320Arg)
c.9926C>G (p.Pro3309Arg)
c.9899C>G (p.Pro3300Arg)
c.7658C>G (p.Pro2553Arg)
n.1058-4484C>G (p.=)
n.2130-4484C>G
13g.23333968G>TCA387513396SACSc.9467C>A (p.Pro3156His)
c.9908C>A (p.Pro3303His)
c.9935C>A (p.Pro3312His)
c.9959C>A (p.Pro3320His)
c.9926C>A (p.Pro3309His)
c.9899C>A (p.Pro3300His)
c.7658C>A (p.Pro2553His)
n.1058-4484C>A (p.=)
n.2130-4484C>A
13g.23333969G>ACA387513397SACSc.9466C>T (p.Pro3156Ser)
c.9907C>T (p.Pro3303Ser)
c.9934C>T (p.Pro3312Ser)
c.9958C>T (p.Pro3320Ser)
c.9925C>T (p.Pro3309Ser)
c.9898C>T (p.Pro3300Ser)
c.7657C>T (p.Pro2553Ser)
n.1058-4485C>T (p.=)
n.2130-4485C>T
COSMIC COSMIC
13g.23333969G>CCA6910542SACSc.9466C>G (p.Pro3156Ala)
c.9907C>G (p.Pro3303Ala)
c.9934C>G (p.Pro3312Ala)
c.9958C>G (p.Pro3320Ala)
c.9925C>G (p.Pro3309Ala)
c.9898C>G (p.Pro3300Ala)
c.7657C>G (p.Pro2553Ala)
n.1058-4485C>G (p.=)
n.2130-4485C>G
dbSNP ExAC gnomAD
13g.23333969G>TCA387513398SACSc.9466C>A (p.Pro3156Thr)
c.9907C>A (p.Pro3303Thr)
c.9934C>A (p.Pro3312Thr)
c.9958C>A (p.Pro3320Thr)
c.9925C>A (p.Pro3309Thr)
c.9898C>A (p.Pro3300Thr)
c.7657C>A (p.Pro2553Thr)
n.1058-4485C>A (p.=)
n.2130-4485C>A
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

Number of alleles fetched