Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.122780314delCA2680210783FABP7c.97del (p.Val33TrpfsTer4)
c.85del (p.Val29TrpfsTer4)
gnomAD v4
6g.122780314G>ACA365488771FABP7c.97G>A (p.Val33Met)
c.85G>A (p.Val29Met)
6g.122780314G>CCA365488772FABP7c.97G>C (p.Val33Leu)
c.85G>C (p.Val29Leu)
6g.122780314G>TCA365488774FABP7c.97G>T (p.Val33Leu)
c.85G>T (p.Val29Leu)
gnomAD v4
6g.122780315T>ACA365488780FABP7c.98T>A (p.Val33Glu)
c.86T>A (p.Val29Glu)
6g.122780315T>CCA365488778FABP7c.98T>C (p.Val33Ala)
c.86T>C (p.Val29Ala)
6g.122780315T>GCA365488776FABP7c.98T>G (p.Val33Gly)
c.86T>G (p.Val29Gly)
6g.122780316G>ACA451977552FABP7c.99G>A (p.Val33=)
c.87G>A (p.Val29=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.122780316G>CCA451977553FABP7c.99G>C (p.Val33=)
c.87G>C (p.Val29=)
6g.122780316G=CA1660115253FABP7c.99G= (p.Val33=)
c.87G= (p.Val29=)
6g.122780316G>TCA451977554FABP7c.99G>T (p.Val33=)
c.87G>T (p.Val29=)
6g.122780317G>ACA365488782FABP7c.100G>A (p.Gly34Arg)
c.88G>A (p.Gly30Arg)
6g.122780317G>CCA365488783FABP7c.100G>C (p.Gly34Arg)
c.88G>C (p.Gly30Arg)
6g.122780317G>TCA365488785FABP7c.100G>T (p.Gly34Ter)
c.88G>T (p.Gly30Ter)
6g.122780318G>ACA147076874FABP7c.101G>A (p.Gly34Glu)
c.89G>A (p.Gly30Glu)
dbSNP gnomAD v2 gnomAD v4
6g.122780318G>CCA365488788FABP7c.101G>C (p.Gly34Ala)
c.89G>C (p.Gly30Ala)
6g.122780318G=CA1660115254FABP7c.101G= (p.Gly34=)
c.89G= (p.Gly30=)
6g.122780318G>TCA365488790FABP7c.101G>T (p.Gly34Val)
c.89G>T (p.Gly30Val)
6g.122780319A>CCA451977557FABP7c.102A>C (p.Gly34=)
c.90A>C (p.Gly30=)
6g.122780319A>GCA451977555FABP7c.102A>G (p.Gly34=)
c.90A>G (p.Gly30=)
6g.122780319A>TCA451977556FABP7c.102A>T (p.Gly34=)
c.90A>T (p.Gly30=)
6g.122780320A>CCA365488792FABP7c.103A>C (p.Asn35His)
c.91A>C (p.Asn31His)
6g.122780320A>GCA365488795FABP7c.103A>G (p.Asn35Asp)
c.91A>G (p.Asn31Asp)
6g.122780320A>TCA365488794FABP7c.103A>T (p.Asn35Tyr)
c.91A>T (p.Asn31Tyr)
6g.122780321A>CCA365488797FABP7c.104A>C (p.Asn35Thr)
c.92A>C (p.Asn31Thr)
6g.122780321A>GCA365488799FABP7c.104A>G (p.Asn35Ser)
c.92A>G (p.Asn31Ser)
6g.122780321A>TCA365488801FABP7c.104A>T (p.Asn35Ile)
c.92A>T (p.Asn31Ile)
6g.122780322T>ACA365488803FABP7c.105T>A (p.Asn35Lys)
c.93T>A (p.Asn31Lys)
6g.122780322T>CCA3982890FABP7c.105T>C (p.Asn35=)
c.93T>C (p.Asn31=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.122780322T>GCA365488806FABP7c.105T>G (p.Asn35Lys)
c.93T>G (p.Asn31Lys)
6g.122780322T=CA1660115255FABP7c.105T= (p.Asn35=)
c.93T= (p.Asn31=)
6g.122780323G>ACA365488808FABP7c.106G>A (p.Val36Met)
c.94G>A (p.Val32Met)
6g.122780323G>CCA365488810FABP7c.106G>C (p.Val36Leu)
c.94G>C (p.Val32Leu)
dbSNP gnomAD v3 gnomAD v4
6g.122780323G=CA1660115256FABP7c.106G= (p.Val36=)
c.94G= (p.Val32=)
6g.122780323G>TCA365488812FABP7c.106G>T (p.Val36Leu)
c.94G>T (p.Val32Leu)
6g.122780324T>ACA365488814FABP7c.107T>A (p.Val36Glu)
c.95T>A (p.Val32Glu)
6g.122780324T>CCA365488815FABP7c.107T>C (p.Val36Ala)
c.95T>C (p.Val32Ala)
dbSNP
6g.122780324T>GCA365488817FABP7c.107T>G (p.Val36Gly)
c.95T>G (p.Val32Gly)
6g.122780324T=CA1660115257FABP7c.107T= (p.Val36=)
c.95T= (p.Val32=)
6g.122780325G>ACA451977558FABP7c.108G>A (p.Val36=)
c.96G>A (p.Val32=)
6g.122780325G>CCA451977559FABP7c.108G>C (p.Val36=)
c.96G>C (p.Val32=)
6g.122780325G>TCA451977560FABP7c.108G>T (p.Val36=)
c.96G>T (p.Val32=)
gnomAD v4
6g.122780326A>CCA365488823FABP7c.109A>C (p.Thr37Pro)
c.97A>C (p.Thr33Pro)
6g.122780326A>GCA365488819FABP7c.109A>G (p.Thr37Ala)
c.97A>G (p.Thr33Ala)
6g.122780326A>TCA365488821FABP7c.109A>T (p.Thr37Ser)
c.97A>T (p.Thr33Ser)
gnomAD v4
6g.122780327C>ACA365488825FABP7c.110C>A (p.Thr37Asn)
c.98C>A (p.Thr33Asn)
6g.122780327C>GCA365488827FABP7c.110C>G (p.Thr37Ser)
c.98C>G (p.Thr33Ser)
6g.122780327C>TCA365488829FABP7c.110C>T (p.Thr37Ile)
c.98C>T (p.Thr33Ile)
gnomAD v4
6g.122780328C>ACA451977561FABP7c.111C>A (p.Thr37=)
c.99C>A (p.Thr33=)
dbSNP gnomAD v3 gnomAD v4
6g.122780328C=CA1660115258FABP7c.111C= (p.Thr37=)
c.99C= (p.Thr33=)
6g.122780328C>GCA3982891FABP7c.111C>G (p.Thr37=)
c.99C>G (p.Thr33=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.122780328C>TCA451977562FABP7c.111C>T (p.Thr37=)
c.99C>T (p.Thr33=)
6g.122780329A=CA1660115259FABP7c.112A= (p.Lys38=)
c.100A= (p.Lys34=)
6g.122780329A>CCA365488832FABP7c.112A>C (p.Lys38Gln)
c.100A>C (p.Lys34Gln)
6g.122780329A>GCA365488834FABP7c.112A>G (p.Lys38Glu)
c.100A>G (p.Lys34Glu)
dbSNP gnomAD v2 gnomAD v4
6g.122780329A>TCA365488836FABP7c.112A>T (p.Lys38Ter)
c.100A>T (p.Lys34Ter)
6g.122780330A>CCA365488841FABP7c.113A>C (p.Lys38Thr)
c.101A>C (p.Lys34Thr)
6g.122780330A>GCA365488838FABP7c.113A>G (p.Lys38Arg)
c.101A>G (p.Lys34Arg)
6g.122780330A>TCA365488840FABP7c.113A>T (p.Lys38Ile)
c.101A>T (p.Lys34Ile)
6g.122780331A>CCA365488843FABP7c.114A>C (p.Lys38Asn)
c.102A>C (p.Lys34Asn)
6g.122780331A>GCA451977563FABP7c.114A>G (p.Lys38=)
c.102A>G (p.Lys34=)
6g.122780331A>TCA365488844FABP7c.114A>T (p.Lys38Asn)
c.102A>T (p.Lys34Asn)
6g.122780332C>ACA365488847FABP7c.115C>A (p.Pro39Thr)
c.103C>A (p.Pro35Thr)
6g.122780332C>GCA365488849FABP7c.115C>G (p.Pro39Ala)
c.103C>G (p.Pro35Ala)
6g.122780332C>TCA365488851FABP7c.115C>T (p.Pro39Ser)
c.103C>T (p.Pro35Ser)
6g.122780332_122780333insACACCCAACACA2772886464FABP7c.115_116insACACCCAACA (p.Pro39HisfsTer29)
c.103_104insACACCCAACA (p.Pro35HisfsTer29)
6g.122780333C>ACA365488853FABP7c.116C>A (p.Pro39Gln)
c.104C>A (p.Pro35Gln)
6g.122780333C=CA1660115260FABP7c.116C= (p.Pro39=)
c.104C= (p.Pro35=)
6g.122780333C>GCA365488856FABP7c.116C>G (p.Pro39Arg)
c.104C>G (p.Pro35Arg)
ClinVar dbSNP gnomAD v4
6g.122780333C>TCA365488855FABP7c.116C>T (p.Pro39Leu)
c.104C>T (p.Pro35Leu)
gnomAD v4
6g.122780334A=CA1660115261FABP7c.117A= (p.Pro39=)
c.105A= (p.Pro35=)
6g.122780334A>CCA451977564FABP7c.117A>C (p.Pro39=)
c.105A>C (p.Pro35=)
6g.122780334A>GCA3982892FABP7c.117A>G (p.Pro39=)
c.105A>G (p.Pro35=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.122780334A>TCA451977565FABP7c.117A>T (p.Pro39=)
c.105A>T (p.Pro35=)
COSMIC COSMIC
6g.122780335A>CCA365488860FABP7c.118A>C (p.Thr40Pro)
c.106A>C (p.Thr36Pro)
6g.122780335A>GCA365488861FABP7c.118A>G (p.Thr40Ala)
c.106A>G (p.Thr36Ala)
6g.122780335A>TCA365488863FABP7c.118A>T (p.Thr40Ser)
c.106A>T (p.Thr36Ser)
6g.122780336C>ACA3982894FABP7c.119C>A (p.Thr40Lys)
c.107C>A (p.Thr36Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.122780336C=CA1660115262FABP7c.119C= (p.Thr40=)
c.107C= (p.Thr36=)
6g.122780336C>GCA365488866FABP7c.119C>G (p.Thr40Arg)
c.107C>G (p.Thr36Arg)
gnomAD v4
6g.122780336C>TCA3982893FABP7c.119C>T (p.Thr40Met)
c.107C>T (p.Thr36Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.122780337G>ACA3982895FABP7c.120G>A (p.Thr40=)
c.108G>A (p.Thr36=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.122780337G>CCA451977566FABP7c.120G>C (p.Thr40=)
c.108G>C (p.Thr36=)
6g.122780337G=CA1660115263FABP7c.120G= (p.Thr40=)
c.108G= (p.Thr36=)
6g.122780337G>TCA451977567FABP7c.120G>T (p.Thr40=)
c.108G>T (p.Thr36=)
6g.122780338G>ACA365488870FABP7c.121G>A (p.Val41Ile)
c.109G>A (p.Val37Ile)
6g.122780338G>CCA365488871FABP7c.121G>C (p.Val41Leu)
c.109G>C (p.Val37Leu)
6g.122780338G>TCA365488872FABP7c.121G>T (p.Val41Leu)
c.109G>T (p.Val37Leu)
6g.122780339T>ACA365488875FABP7c.122T>A (p.Val41Glu)
c.110T>A (p.Val37Glu)
6g.122780339T>CCA365488873FABP7c.122T>C (p.Val41Ala)
c.110T>C (p.Val37Ala)
dbSNP gnomAD v4
6g.122780339T>GCA365488874FABP7c.122T>G (p.Val41Gly)
c.110T>G (p.Val37Gly)
6g.122780339T=CA1660115264FABP7c.122T= (p.Val41=)
c.110T= (p.Val37=)
6g.122780340A>CCA451977568FABP7c.123A>C (p.Val41=)
c.111A>C (p.Val37=)
6g.122780340A>GCA451977570FABP7c.123A>G (p.Val41=)
c.111A>G (p.Val37=)
6g.122780340A>TCA451977569FABP7c.123A>T (p.Val41=)
c.111A>T (p.Val37=)
6g.122780341A>CCA365488876FABP7c.124A>C (p.Ile42Leu)
c.112A>C (p.Ile38Leu)
6g.122780341A>GCA365488877FABP7c.124A>G (p.Ile42Val)
c.112A>G (p.Ile38Val)
gnomAD v4
6g.122780341A>TCA365488878FABP7c.124A>T (p.Ile42Phe)
c.112A>T (p.Ile38Phe)
6g.122780342T>ACA365488879FABP7c.125T>A (p.Ile42Asn)
c.113T>A (p.Ile38Asn)
6g.122780342T>CCA365488880FABP7c.125T>C (p.Ile42Thr)
c.113T>C (p.Ile38Thr)
6g.122780342T>GCA365488881FABP7c.125T>G (p.Ile42Ser)
c.113T>G (p.Ile38Ser)
6g.122780343T>ACA451977571FABP7c.126T>A (p.Ile42=)
c.114T>A (p.Ile38=)
6g.122780343T>CCA451977572FABP7c.126T>C (p.Ile42=)
c.114T>C (p.Ile38=)
dbSNP gnomAD v3 gnomAD v4
6g.122780343T>GCA365488882FABP7c.126T>G (p.Ile42Met)
c.114T>G (p.Ile38Met)
6g.122780343T=CA1660115265FABP7c.126T= (p.Ile42=)
c.114T= (p.Ile38=)
6g.122780344A=CA1660115266FABP7c.127A= (p.Ile43=)
c.115A= (p.Ile39=)
6g.122780344A>CCA365488883FABP7c.127A>C (p.Ile43Leu)
c.115A>C (p.Ile39Leu)
6g.122780344A>GCA365488885FABP7c.127A>G (p.Ile43Val)
c.115A>G (p.Ile39Val)
dbSNP
6g.122780344A>TCA365488884FABP7c.127A>T (p.Ile43Phe)
c.115A>T (p.Ile39Phe)
dbSNP gnomAD v2 gnomAD v4
6g.122780345T>ACA365488886FABP7c.128T>A (p.Ile43Asn)
c.116T>A (p.Ile39Asn)
6g.122780345T>CCA365488887FABP7c.128T>C (p.Ile43Thr)
c.116T>C (p.Ile39Thr)
6g.122780345T>GCA365488888FABP7c.128T>G (p.Ile43Ser)
c.116T>G (p.Ile39Ser)
6g.122780346C>ACA451977573FABP7c.129C>A (p.Ile43=)
c.117C>A (p.Ile39=)
6g.122780346C=CA1660115267FABP7c.129C= (p.Ile43=)
c.117C= (p.Ile39=)
6g.122780346C>GCA365488889FABP7c.129C>G (p.Ile43Met)
c.117C>G (p.Ile39Met)
dbSNP gnomAD v3 gnomAD v4
6g.122780346C>TCA451977574FABP7c.129C>T (p.Ile43=)
c.117C>T (p.Ile39=)
6g.122780347A>CCA365488892FABP7c.130A>C (p.Ser44Arg)
c.118A>C (p.Ser40Arg)
6g.122780347A>GCA365488890FABP7c.130A>G (p.Ser44Gly)
c.118A>G (p.Ser40Gly)
6g.122780347A>TCA365488891FABP7c.130A>T (p.Ser44Cys)
c.118A>T (p.Ser40Cys)
6g.122780348G>ACA365488893FABP7c.131G>A (p.Ser44Asn)
c.119G>A (p.Ser40Asn)
6g.122780348G>CCA3982896FABP7c.131G>C (p.Ser44Thr)
c.119G>C (p.Ser40Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.122780348G=CA1660115268FABP7c.131G= (p.Ser44=)
c.119G= (p.Ser40=)
6g.122780348G>TCA365488894FABP7c.131G>T (p.Ser44Ile)
c.119G>T (p.Ser40Ile)
dbSNP
6g.122780349T>ACA365488895FABP7c.132T>A (p.Ser44Arg)
c.120T>A (p.Ser40Arg)
6g.122780349T>CCA451977575FABP7c.132T>C (p.Ser44=)
c.120T>C (p.Ser40=)
6g.122780349T>GCA365488896FABP7c.132T>G (p.Ser44Arg)
c.120T>G (p.Ser40Arg)
6g.122780350C>ACA365488897FABP7c.133C>A (p.Gln45Lys)
c.121C>A (p.Gln41Lys)
6g.122780350C>GCA365488898FABP7c.133C>G (p.Gln45Glu)
c.121C>G (p.Gln41Glu)
COSMIC COSMIC
6g.122780350C>TCA365488899FABP7c.133C>T (p.Gln45Ter)
c.121C>T (p.Gln41Ter)
COSMIC COSMIC
6g.122780351A>CCA365488900FABP7c.134A>C (p.Gln45Pro)
c.122A>C (p.Gln41Pro)
6g.122780351A>GCA365488901FABP7c.134A>G (p.Gln45Arg)
c.122A>G (p.Gln41Arg)
6g.122780351A>TCA365488902FABP7c.134A>T (p.Gln45Leu)
c.122A>T (p.Gln41Leu)
6g.122780354_122780356delCA2680210784FABP7c.137_139del (p.Glu46del)
c.125_127del (p.Glu42del)
gnomAD v4
6g.122780352A>CCA365488903FABP7c.135A>C (p.Gln45His)
c.123A>C (p.Gln41His)
6g.122780352A>GCA451977576FABP7c.135A>G (p.Gln45=)
c.123A>G (p.Gln41=)
6g.122780352A>TCA365488904FABP7c.135A>T (p.Gln45His)
c.123A>T (p.Gln41His)
6g.122780353G>ACA365488905FABP7c.136G>A (p.Glu46Lys)
c.124G>A (p.Glu42Lys)
6g.122780353G>CCA365488907FABP7c.136G>C (p.Glu46Gln)
c.124G>C (p.Glu42Gln)
6g.122780353G>TCA365488906FABP7c.136G>T (p.Glu46Ter)
c.124G>T (p.Glu42Ter)
6g.122780354A=CA1660115269FABP7c.137A= (p.Glu46=)
c.125A= (p.Glu42=)
6g.122780354A>CCA365488908FABP7c.137A>C (p.Glu46Ala)
c.125A>C (p.Glu42Ala)
6g.122780354A>GCA365488909FABP7c.137A>G (p.Glu46Gly)
c.125A>G (p.Glu42Gly)
dbSNP gnomAD v3 gnomAD v4
6g.122780354A>TCA365488910FABP7c.137A>T (p.Glu46Val)
c.125A>T (p.Glu42Val)
6g.122780355A>CCA365488911FABP7c.138A>C (p.Glu46Asp)
c.126A>C (p.Glu42Asp)
6g.122780355A>GCA451977577FABP7c.138A>G (p.Glu46=)
c.126A>G (p.Glu42=)
6g.122780355A>TCA365488912FABP7c.138A>T (p.Glu46Asp)
c.126A>T (p.Glu42Asp)
6g.122780356G>ACA365488915FABP7c.139G>A (p.Gly47Arg)
c.127G>A (p.Gly43Arg)
6g.122780356G>CCA365488914FABP7c.139G>C (p.Gly47Arg)
c.127G>C (p.Gly43Arg)
6g.122780356G>TCA365488913FABP7c.139G>T (p.Gly47Ter)
c.127G>T (p.Gly43Ter)
6g.122780357G>ACA365488916FABP7c.140G>A (p.Gly47Glu)
c.128G>A (p.Gly43Glu)
6g.122780357G>CCA365488917FABP7c.140G>C (p.Gly47Ala)
c.128G>C (p.Gly43Ala)
6g.122780357G>TCA365488918FABP7c.140G>T (p.Gly47Val)
c.128G>T (p.Gly43Val)
6g.122780358A>CCA451977578FABP7c.141A>C (p.Gly47=)
c.129A>C (p.Gly43=)
6g.122780358A>GCA451977579FABP7c.141A>G (p.Gly47=)
c.129A>G (p.Gly43=)
6g.122780358A>TCA451977580FABP7c.141A>T (p.Gly47=)
c.129A>T (p.Gly43=)
6g.122780359G>ACA365488919FABP7c.142G>A (p.Asp48Asn)
c.130G>A (p.Asp44Asn)
6g.122780359G>CCA365488920FABP7c.142G>C (p.Asp48His)
c.130G>C (p.Asp44His)
6g.122780359G>TCA365488921FABP7c.142G>T (p.Asp48Tyr)
c.130G>T (p.Asp44Tyr)
6g.122780360A=CA1660115270FABP7c.143A= (p.Asp48=)
c.131A= (p.Asp44=)
6g.122780360A>CCA365488922FABP7c.143A>C (p.Asp48Ala)
c.131A>C (p.Asp44Ala)
6g.122780360A>GCA365488924FABP7c.143A>G (p.Asp48Gly)
c.131A>G (p.Asp44Gly)
dbSNP gnomAD v3 gnomAD v4
6g.122780360A>TCA365488923FABP7c.143A>T (p.Asp48Val)
c.131A>T (p.Asp44Val)
6g.122780361C>ACA365488925FABP7c.144C>A (p.Asp48Glu)
c.132C>A (p.Asp44Glu)
6g.122780361C>GCA365488926FABP7c.144C>G (p.Asp48Glu)
c.132C>G (p.Asp44Glu)
6g.122780361C>TCA451977581FABP7c.144C>T (p.Asp48=)
c.132C>T (p.Asp44=)
6g.122780362A>CCA365488927FABP7c.145A>C (p.Lys49Gln)
c.133A>C (p.Lys45Gln)
6g.122780362A>GCA365488928FABP7c.145A>G (p.Lys49Glu)
c.133A>G (p.Lys45Glu)
6g.122780362A>TCA365488929FABP7c.145A>T (p.Lys49Ter)
c.133A>T (p.Lys45Ter)
6g.122780363A>CCA365488930FABP7c.146A>C (p.Lys49Thr)
c.134A>C (p.Lys45Thr)
gnomAD v4
6g.122780363A>GCA365488931FABP7c.146A>G (p.Lys49Arg)
c.134A>G (p.Lys45Arg)
COSMIC
6g.122780363A>TCA365488932FABP7c.146A>T (p.Lys49Ile)
c.134A>T (p.Lys45Ile)
6g.122780364A>CCA365488933FABP7c.147A>C (p.Lys49Asn)
c.135A>C (p.Lys45Asn)
6g.122780364A>GCA451977582FABP7c.147A>G (p.Lys49=)
c.135A>G (p.Lys45=)
6g.122780364A>TCA365488934FABP7c.147A>T (p.Lys49Asn)
c.135A>T (p.Lys45Asn)
6g.122780365G>ACA365488935FABP7c.148G>A (p.Val50Met)
c.136G>A (p.Val46Met)
6g.122780365G>CCA365488937FABP7c.148G>C (p.Val50Leu)
c.136G>C (p.Val46Leu)
gnomAD v4
6g.122780365G>TCA365488936FABP7c.148G>T (p.Val50Leu)
c.136G>T (p.Val46Leu)
6g.122780366T>ACA365488938FABP7c.149T>A (p.Val50Glu)
c.137T>A (p.Val46Glu)
6g.122780366T>CCA3982897FABP7c.149T>C (p.Val50Ala)
c.137T>C (p.Val46Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.122780366T>GCA365488939FABP7c.149T>G (p.Val50Gly)
c.137T>G (p.Val46Gly)
6g.122780366T=CA1660115271FABP7c.149T= (p.Val50=)
c.137T= (p.Val46=)
6g.122780367G>ACA451977583FABP7c.150G>A (p.Val50=)
c.138G>A (p.Val46=)
gnomAD v4
6g.122780367G>CCA451977585FABP7c.150G>C (p.Val50=)
c.138G>C (p.Val46=)
6g.122780367G>TCA451977584FABP7c.150G>T (p.Val50=)
c.138G>T (p.Val46=)
6g.122780368G>ACA3982898FABP7c.151G>A (p.Val51Ile)
c.139G>A (p.Val47Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.122780368G>CCA365488940FABP7c.151G>C (p.Val51Leu)
c.139G>C (p.Val47Leu)
gnomAD v4
6g.122780368G=CA1660115272FABP7c.151G= (p.Val51=)
c.139G= (p.Val47=)
6g.122780368G>TCA365488941FABP7c.151G>T (p.Val51Phe)
c.139G>T (p.Val47Phe)
6g.122780369T>ACA365488942FABP7c.152T>A (p.Val51Asp)
c.140T>A (p.Val47Asp)
6g.122780369T>CCA365488943FABP7c.152T>C (p.Val51Ala)
c.140T>C (p.Val47Ala)
6g.122780369T>GCA365488944FABP7c.152T>G (p.Val51Gly)
c.140T>G (p.Val47Gly)
gnomAD v4
6g.122780370C>ACA451977586FABP7c.153C>A (p.Val51=)
c.141C>A (p.Val47=)
COSMIC COSMIC
6g.122780370C=CA1660115273FABP7c.153C= (p.Val51=)
c.141C= (p.Val47=)
6g.122780370C>GCA451977587FABP7c.153C>G (p.Val51=)
c.141C>G (p.Val47=)
dbSNP
6g.122780370C>TCA451977588FABP7c.153C>T (p.Val51=)
c.141C>T (p.Val47=)
6g.122780371A=CA1660115274FABP7c.154A= (p.Ile52=)
c.142A= (p.Ile48=)
6g.122780371A>CCA365488947FABP7c.154A>C (p.Ile52Leu)
c.142A>C (p.Ile48Leu)
dbSNP gnomAD v2 gnomAD v4
6g.122780371A>GCA365488946FABP7c.154A>G (p.Ile52Val)
c.142A>G (p.Ile48Val)
6g.122780371A>TCA365488945FABP7c.154A>T (p.Ile52Phe)
c.142A>T (p.Ile48Phe)
dbSNP gnomAD v4
6g.122780372T>ACA365488948FABP7c.155T>A (p.Ile52Asn)
c.143T>A (p.Ile48Asn)
6g.122780372T>CCA365488949FABP7c.155T>C (p.Ile52Thr)
c.143T>C (p.Ile48Thr)
6g.122780372T>GCA365488950FABP7c.155T>G (p.Ile52Ser)
c.143T>G (p.Ile48Ser)
6g.122780374_122780412dupCA2680210785FABP7c.157_195dup (p.Phe65_Gln66insArgThrLeuSerThrPheLysAsnThrGluIleSerPhe)
c.145_183dup (p.Phe61_Gln62insArgThrLeuSerThrPheLysAsnThrGluIleSerPhe)
gnomAD v4
6g.122780373C>ACA451977589FABP7c.156C>A (p.Ile52=)
c.144C>A (p.Ile48=)
6g.122780373C=CA1660115275FABP7c.156C= (p.Ile52=)
c.144C= (p.Ile48=)
6g.122780373C>GCA365488951FABP7c.156C>G (p.Ile52Met)
c.144C>G (p.Ile48Met)
6g.122780373C>TCA451977590FABP7c.156C>T (p.Ile52=)
c.144C>T (p.Ile48=)
dbSNP
6g.122780374A>CCA451977591FABP7c.157A>C (p.Arg53=)
c.145A>C (p.Arg49=)
6g.122780374A>GCA365488952FABP7c.157A>G (p.Arg53Gly)
c.145A>G (p.Arg49Gly)
6g.122780374A>TCA365488953FABP7c.157A>T (p.Arg53Trp)
c.145A>T (p.Arg49Trp)
6g.122780375G>ACA365488954FABP7c.158G>A (p.Arg53Lys)
c.146G>A (p.Arg49Lys)
dbSNP gnomAD v3 gnomAD v4
6g.122780375G>CCA365488956FABP7c.158G>C (p.Arg53Thr)
c.146G>C (p.Arg49Thr)
6g.122780375G=CA1660115276FABP7c.158G= (p.Arg53=)
c.146G= (p.Arg49=)
6g.122780375G>TCA365488955FABP7c.158G>T (p.Arg53Met)
c.146G>T (p.Arg49Met)
6g.122780376G>ACA451977592FABP7c.159G>A (p.Arg53=)
c.147G>A (p.Arg49=)
dbSNP
6g.122780376G>CCA365488957FABP7c.159G>C (p.Arg53Ser)
c.147G>C (p.Arg49Ser)
6g.122780376G=CA1660115277FABP7c.159G= (p.Arg53=)
c.147G= (p.Arg49=)
6g.122780376G>TCA365488958FABP7c.159G>T (p.Arg53Ser)
c.147G>T (p.Arg49Ser)
6g.122780377A>CCA365488959FABP7c.160A>C (p.Thr54Pro)
c.148A>C (p.Thr50Pro)
6g.122780377A>GCA365488960FABP7c.160A>G (p.Thr54Ala)
c.148A>G (p.Thr50Ala)
6g.122780377A>TCA365488961FABP7c.160A>T (p.Thr54Ser)
c.148A>T (p.Thr50Ser)
gnomAD v4
6g.122780377_122780379delinsACTCA1660115278FABP7c.160_162delinsACT (p.Thr54=)
c.148_150delinsACT (p.Thr50=)
6g.122780378C>ACA365488962FABP7c.161C>A (p.Thr54Asn)
c.149C>A (p.Thr50Asn)
6g.122780378C>GCA365488963FABP7c.161C>G (p.Thr54Ser)
c.149C>G (p.Thr50Ser)
6g.122780378C>TCA365488964FABP7c.161C>T (p.Thr54Ile)
c.149C>T (p.Thr50Ile)
6g.122780381_122780382delCA570510046FABP7c.164_165del (p.Leu55GlnfsTer9)
c.152_153del (p.Leu51GlnfsTer9)
dbSNP gnomAD v2 gnomAD v4
6g.122780379T>ACA451977593FABP7c.162T>A (p.Thr54=)
c.150T>A (p.Thr50=)
6g.122780379T>CCA451977594FABP7c.162T>C (p.Thr54=)
c.150T>C (p.Thr50=)
dbSNP gnomAD v4
6g.122780379T>GCA451977595FABP7c.162T>G (p.Thr54=)
c.150T>G (p.Thr50=)
6g.122780379T=CA1660115279FABP7c.162T= (p.Thr54=)
c.150T= (p.Thr50=)
6g.122780380C>ACA365488965FABP7c.163C>A (p.Leu55Ile)
c.151C>A (p.Leu51Ile)
6g.122780380C=CA1660115280FABP7c.163C= (p.Leu55=)
c.151C= (p.Leu51=)
6g.122780380C>GCA3982899FABP7c.163C>G (p.Leu55Val)
c.151C>G (p.Leu51Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.122780380C>TCA365488966FABP7c.163C>T (p.Leu55Phe)
c.151C>T (p.Leu51Phe)
6g.122780381T>ACA365488967FABP7c.164T>A (p.Leu55His)
c.152T>A (p.Leu51His)
6g.122780381T>CCA365488969FABP7c.164T>C (p.Leu55Pro)
c.152T>C (p.Leu51Pro)
6g.122780381T>GCA365488968FABP7c.164T>G (p.Leu55Arg)
c.152T>G (p.Leu51Arg)
6g.122780382C>ACA451977596FABP7c.165C>A (p.Leu55=)
c.153C>A (p.Leu51=)
6g.122780382C>GCA451977597FABP7c.165C>G (p.Leu55=)
c.153C>G (p.Leu51=)
6g.122780382C>TCA451977598FABP7c.165C>T (p.Leu55=)
c.153C>T (p.Leu51=)
6g.122780383A=CA1660115281FABP7c.166A= (p.Ser56=)
c.154A= (p.Ser52=)
6g.122780383A>CCA365488970FABP7c.166A>C (p.Ser56Arg)
c.154A>C (p.Ser52Arg)
6g.122780383A>GCA147076942FABP7c.166A>G (p.Ser56Gly)
c.154A>G (p.Ser52Gly)
dbSNP
6g.122780383A>TCA365488971FABP7c.166A>T (p.Ser56Cys)
c.154A>T (p.Ser52Cys)
6g.122780384G>ACA365488972FABP7c.167G>A (p.Ser56Asn)
c.155G>A (p.Ser52Asn)
6g.122780384G>CCA365488973FABP7c.167G>C (p.Ser56Thr)
c.155G>C (p.Ser52Thr)
6g.122780384G>TCA365488974FABP7c.167G>T (p.Ser56Ile)
c.155G>T (p.Ser52Ile)
6g.122780385C>ACA365488975FABP7c.168C>A (p.Ser56Arg)
c.156C>A (p.Ser52Arg)
6g.122780385C>GCA365488976FABP7c.168C>G (p.Ser56Arg)
c.156C>G (p.Ser52Arg)
6g.122780385C>TCA451977599FABP7c.168C>T (p.Ser56=)
c.156C>T (p.Ser52=)
6g.122780386A>CCA365488977FABP7c.169A>C (p.Thr57Pro)
c.157A>C (p.Thr53Pro)
6g.122780386A>GCA365488978FABP7c.169A>G (p.Thr57Ala)
c.157A>G (p.Thr53Ala)
6g.122780386A>TCA365488979FABP7c.169A>T (p.Thr57Ser)
c.157A>T (p.Thr53Ser)
6g.122780387C>ACA365488982FABP7c.170C>A (p.Thr57Lys)
c.158C>A (p.Thr53Lys)
6g.122780387C>GCA365488981FABP7c.170C>G (p.Thr57Arg)
c.158C>G (p.Thr53Arg)
6g.122780387C>TCA365488980FABP7c.170C>T (p.Thr57Ile)
c.158C>T (p.Thr53Ile)
gnomAD v4
6g.122780388A>CCA451977602FABP7c.171A>C (p.Thr57=)
c.159A>C (p.Thr53=)
6g.122780388A>GCA451977601FABP7c.171A>G (p.Thr57=)
c.159A>G (p.Thr53=)
gnomAD v4
6g.122780388A>TCA451977600FABP7c.171A>T (p.Thr57=)
c.159A>T (p.Thr53=)
6g.122780389T>ACA365488983FABP7c.172T>A (p.Phe58Ile)
c.160T>A (p.Phe54Ile)
6g.122780389T>CCA365488984FABP7c.172T>C (p.Phe58Leu)
c.160T>C (p.Phe54Leu)
6g.122780389T>GCA365488985FABP7c.172T>G (p.Phe58Val)
c.160T>G (p.Phe54Val)
dbSNP gnomAD v4
6g.122780389T=CA1660115282FABP7c.172T= (p.Phe58=)
c.160T= (p.Phe54=)
6g.122780390T>ACA365488986FABP7c.173T>A (p.Phe58Tyr)
c.161T>A (p.Phe54Tyr)
6g.122780390T>CCA365488987FABP7c.173T>C (p.Phe58Ser)
c.161T>C (p.Phe54Ser)
6g.122780390T>GCA365488988FABP7c.173T>G (p.Phe58Cys)
c.161T>G (p.Phe54Cys)
6g.122780391C>ACA365488989FABP7c.174C>A (p.Phe58Leu)
c.162C>A (p.Phe54Leu)
6g.122780391C=CA1660115283FABP7c.174C= (p.Phe58=)
c.162C= (p.Phe54=)
6g.122780391C>GCA365488990FABP7c.174C>G (p.Phe58Leu)
c.162C>G (p.Phe54Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.122780391C>TCA451977603FABP7c.174C>T (p.Phe58=)
c.162C>T (p.Phe54=)
6g.122780392A=CA1660115284FABP7c.175A= (p.Lys59=)
c.163A= (p.Lys55=)
6g.122780392A>CCA3982900FABP7c.175A>C (p.Lys59Gln)
c.163A>C (p.Lys55Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.122780392A>GCA365488991FABP7c.175A>G (p.Lys59Glu)
c.163A>G (p.Lys55Glu)
dbSNP gnomAD v2 gnomAD v4
6g.122780392A>TCA365488992FABP7c.175A>T (p.Lys59Ter)
c.163A>T (p.Lys55Ter)
6g.122780393A>CCA365488995FABP7c.176A>C (p.Lys59Thr)
c.164A>C (p.Lys55Thr)
6g.122780393A>GCA365488994FABP7c.176A>G (p.Lys59Arg)
c.164A>G (p.Lys55Arg)
gnomAD v4
6g.122780393A>TCA365488993FABP7c.176A>T (p.Lys59Met)
c.164A>T (p.Lys55Met)
6g.122780394G>ACA451977604FABP7c.177G>A (p.Lys59=)
c.165G>A (p.Lys55=)
6g.122780394G>CCA365488996FABP7c.177G>C (p.Lys59Asn)
c.165G>C (p.Lys55Asn)
6g.122780394G>TCA365488997FABP7c.177G>T (p.Lys59Asn)
c.165G>T (p.Lys55Asn)
6g.122780395A>CCA365488998FABP7c.178A>C (p.Asn60His)
c.166A>C (p.Asn56His)
6g.122780395A>GCA365488999FABP7c.178A>G (p.Asn60Asp)
c.166A>G (p.Asn56Asp)
6g.122780395A>TCA365489000FABP7c.178A>T (p.Asn60Tyr)
c.166A>T (p.Asn56Tyr)
6g.122780396A>CCA365489001FABP7c.179A>C (p.Asn60Thr)
c.167A>C (p.Asn56Thr)
6g.122780396A>GCA365489002FABP7c.179A>G (p.Asn60Ser)
c.167A>G (p.Asn56Ser)
6g.122780396A>TCA365489003FABP7c.179A>T (p.Asn60Ile)
c.167A>T (p.Asn56Ile)
6g.122780397C>ACA365489004FABP7c.180C>A (p.Asn60Lys)
c.168C>A (p.Asn56Lys)
dbSNP
6g.122780397C>GCA365489005FABP7c.180C>G (p.Asn60Lys)
c.168C>G (p.Asn56Lys)
6g.122780397C>TCA451977605FABP7c.180C>T (p.Asn60=)
c.168C>T (p.Asn56=)
gnomAD v4
6g.122780398A=CA1660115285FABP7c.181A= (p.Thr61=)
c.169A= (p.Thr57=)
6g.122780398A>CCA365489006FABP7c.181A>C (p.Thr61Pro)
c.169A>C (p.Thr57Pro)
6g.122780398A>GCA365489007FABP7c.181A>G (p.Thr61Ala)
c.169A>G (p.Thr57Ala)
dbSNP gnomAD v2
6g.122780398A>TCA365489008FABP7c.181A>T (p.Thr61Ser)
c.169A>T (p.Thr57Ser)
6g.122780399C>ACA365489010FABP7c.182C>A (p.Thr61Lys)
c.170C>A (p.Thr57Lys)
6g.122780399C=CA1660115286FABP7c.182C= (p.Thr61=)
c.170C= (p.Thr57=)
6g.122780399C>GCA365489009FABP7c.182C>G (p.Thr61Arg)
c.170C>G (p.Thr57Arg)
6g.122780399C>TCA3982901FABP7c.182C>T (p.Thr61Met)
c.170C>T (p.Thr57Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.122780400G>ACA3982902FABP7c.183G>A (p.Thr61=)
c.171G>A (p.Thr57=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.122780400G>CCA451977607FABP7c.183G>C (p.Thr61=)
c.171G>C (p.Thr57=)
gnomAD v4
6g.122780400G=CA1660115287FABP7c.183G= (p.Thr61=)
c.171G= (p.Thr57=)
6g.122780400G>TCA451977606FABP7c.183G>T (p.Thr61=)
c.171G>T (p.Thr57=)
6g.122780401G>ACA365489011FABP7c.184G>A (p.Glu62Lys)
c.172G>A (p.Glu58Lys)
gnomAD v4
6g.122780401G>CCA365489012FABP7c.184G>C (p.Glu62Gln)
c.172G>C (p.Glu58Gln)
6g.122780401G>TCA365489013FABP7c.184G>T (p.Glu62Ter)
c.172G>T (p.Glu58Ter)
6g.122780402A=CA1660115288FABP7c.185A= (p.Glu62=)
c.173A= (p.Glu58=)
6g.122780402A>CCA365489014FABP7c.185A>C (p.Glu62Ala)
c.173A>C (p.Glu58Ala)
6g.122780402A>GCA365489015FABP7c.185A>G (p.Glu62Gly)
c.173A>G (p.Glu58Gly)
6g.122780402A>TCA365489016FABP7c.185A>T (p.Glu62Val)
c.173A>T (p.Glu58Val)
dbSNP gnomAD v2
6g.122780403G>ACA451977608FABP7c.186G>A (p.Glu62=)
c.174G>A (p.Glu58=)
6g.122780403G>CCA365489017FABP7c.186G>C (p.Glu62Asp)
c.174G>C (p.Glu58Asp)
gnomAD v4
6g.122780403G>TCA365489018FABP7c.186G>T (p.Glu62Asp)
c.174G>T (p.Glu58Asp)
6g.122780404A>CCA365489019FABP7c.187A>C (p.Ile63Leu)
c.175A>C (p.Ile59Leu)
gnomAD v4
6g.122780404A>GCA365489020FABP7c.187A>G (p.Ile63Val)
c.175A>G (p.Ile59Val)
6g.122780404A>TCA365489021FABP7c.187A>T (p.Ile63Phe)
c.175A>T (p.Ile59Phe)
6g.122780405T>ACA365489024FABP7c.188T>A (p.Ile63Asn)
c.176T>A (p.Ile59Asn)
6g.122780405T>CCA365489023FABP7c.188T>C (p.Ile63Thr)
c.176T>C (p.Ile59Thr)
gnomAD v4
6g.122780405T>GCA365489022FABP7c.188T>G (p.Ile63Ser)
c.176T>G (p.Ile59Ser)
gnomAD v4
6g.122780406T>ACA451977609FABP7c.189T>A (p.Ile63=)
c.177T>A (p.Ile59=)
6g.122780406T>CCA451977610FABP7c.189T>C (p.Ile63=)
c.177T>C (p.Ile59=)
6g.122780406T>GCA365489025FABP7c.189T>G (p.Ile63Met)
c.177T>G (p.Ile59Met)
6g.122780407A=CA1660115289FABP7c.190A= (p.Ser64=)
c.178A= (p.Ser60=)
6g.122780407A>CCA3982903FABP7c.190A>C (p.Ser64Arg)
c.178A>C (p.Ser60Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.122780407A>GCA365489026FABP7c.190A>G (p.Ser64Gly)
c.178A>G (p.Ser60Gly)
gnomAD v4
6g.122780407A>TCA365489027FABP7c.190A>T (p.Ser64Cys)
c.178A>T (p.Ser60Cys)
6g.122780408G>ACA365489028FABP7c.191G>A (p.Ser64Asn)
c.179G>A (p.Ser60Asn)
gnomAD v4
6g.122780408G>CCA365489029FABP7c.191G>C (p.Ser64Thr)
c.179G>C (p.Ser60Thr)
6g.122780408G>TCA365489030FABP7c.191G>T (p.Ser64Ile)
c.179G>T (p.Ser60Ile)
6g.122780409T>ACA365489031FABP7c.192T>A (p.Ser64Arg)
c.180T>A (p.Ser60Arg)
6g.122780409T>CCA451977611FABP7c.192T>C (p.Ser64=)
c.180T>C (p.Ser60=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.122780409T>GCA365489032FABP7c.192T>G (p.Ser64Arg)
c.180T>G (p.Ser60Arg)
6g.122780409T=CA1660115290FABP7c.192T= (p.Ser64=)
c.180T= (p.Ser60=)
6g.122780410T>ACA365489033FABP7c.193T>A (p.Phe65Ile)
c.181T>A (p.Phe61Ile)
6g.122780410T>CCA365489034FABP7c.193T>C (p.Phe65Leu)
c.181T>C (p.Phe61Leu)
6g.122780410T>GCA365489035FABP7c.193T>G (p.Phe65Val)
c.181T>G (p.Phe61Val)
6g.122780411T>ACA365489038FABP7c.194T>A (p.Phe65Tyr)
c.182T>A (p.Phe61Tyr)
6g.122780411T>CCA365489037FABP7c.194T>C (p.Phe65Ser)
c.182T>C (p.Phe61Ser)
6g.122780411T>GCA365489036FABP7c.194T>G (p.Phe65Cys)
c.182T>G (p.Phe61Cys)
dbSNP gnomAD v2 gnomAD v4
6g.122780411T=CA1660115291FABP7c.194T= (p.Phe65=)
c.182T= (p.Phe61=)
6g.122780412C>ACA365489039FABP7c.195C>A (p.Phe65Leu)
c.183C>A (p.Phe61Leu)
6g.122780412C>GCA365489040FABP7c.195C>G (p.Phe65Leu)
c.183C>G (p.Phe61Leu)
6g.122780412C>TCA451977612FABP7c.195C>T (p.Phe65=)
c.183C>T (p.Phe61=)
6g.122780413C>ACA365489041FABP7c.196C>A (p.Gln66Lys)
c.184C>A (p.Gln62Lys)
6g.122780413C=CA1660115292FABP7c.196C= (p.Gln66=)
c.184C= (p.Gln62=)
6g.122780413C>GCA365489042FABP7c.196C>G (p.Gln66Glu)
c.184C>G (p.Gln62Glu)
6g.122780413C>TCA365489043FABP7c.196C>T (p.Gln66Ter)
c.184C>T (p.Gln62Ter)
dbSNP
6g.122780414A>CCA365489044FABP7c.197A>C (p.Gln66Pro)
c.185A>C (p.Gln62Pro)
6g.122780414A>GCA365489045FABP7c.197A>G (p.Gln66Arg)
c.185A>G (p.Gln62Arg)
6g.122780414A>TCA365489046FABP7c.197A>T (p.Gln66Leu)
c.185A>T (p.Gln62Leu)

Number of alleles fetched