Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154899869_154902170dupCA1139771163F8c.6001_6273+2dup
c.5896_6168+2dup
Xg.154902095T>ACA414904795F8c.6071A>T (p.His2024Leu)
c.5966A>T (p.His1989Leu)
Xg.154902095T>CCA414904794F8c.6071A>G (p.His2024Arg)
c.5966A>G (p.His1989Arg)
Xg.154902095T>GCA414904790F8c.6071A>C (p.His2024Pro)
c.5966A>C (p.His1989Pro)
Xg.154902096G>ACA414904797F8c.6070C>T (p.His2024Tyr)
c.5965C>T (p.His1989Tyr)
Xg.154902096G>CCA414904798F8c.6070C>G (p.His2024Asp)
c.5965C>G (p.His1989Asp)
Xg.154902096G>TCA414904801F8c.6070C>A (p.His2024Asn)
c.5965C>A (p.His1989Asn)
Xg.154902096dupCA2695237882F8c.6070dup (p.His2024ProfsTer16)
c.5965dup (p.His1989ProfsTer16)
Xg.154902097C>ACA414904803F8c.6069G>T (p.Glu2023Asp)
c.5964G>T (p.Glu1988Asp)
Xg.154902097C>GCA414904805F8c.6069G>C (p.Glu2023Asp)
c.5964G>C (p.Glu1988Asp)
Xg.154902097C>TCA519355884F8c.6069G>A (p.Glu2023=)
c.5964G>A (p.Glu1988=)
Xg.154902098T>ACA414904808F8c.6068A>T (p.Glu2023Val)
c.5963A>T (p.Glu1988Val)
Xg.154902098T>CCA414904809F8c.6068A>G (p.Glu2023Gly)
c.5963A>G (p.Glu1988Gly)
Xg.154902098T>GCA414904810F8c.6068A>C (p.Glu2023Ala)
c.5963A>C (p.Glu1988Ala)
Xg.154902099C>ACA414904811F8c.6067G>T (p.Glu2023Ter)
c.5962G>T (p.Glu1988Ter)
 gnomAD v4
Xg.154902099C=CA2466827633F8c.6067G= (p.Glu2023=)
c.5962G= (p.Glu1988=)
Xg.154902099C>GCA414904812F8c.6067G>C (p.Glu2023Gln)
c.5962G>C (p.Glu1988Gln)
Xg.154902099C>TCA10567913F8c.6067G>A (p.Glu2023Lys)
c.5962G>A (p.Glu1988Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154902100G>ACA519355892F8c.6066C>T (p.Gly2022=)
c.5961C>T (p.Gly1987=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154902100G>CCA519355893F8c.6066C>G (p.Gly2022=)
c.5961C>G (p.Gly1987=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154902100G=CA2466827634F8c.6066C= (p.Gly2022=)
c.5961C= (p.Gly1987=)
Xg.154902100G>TCA519355895F8c.6066C>A (p.Gly2022=)
c.5961C>A (p.Gly1987=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.154902101C>ACA414904827F8c.6065G>T (p.Gly2022Val)
c.5960G>T (p.Gly1987Val)
Xg.154902101C=CA2466827635F8c.6065G= (p.Gly2022=)
c.5960G= (p.Gly1987=)
Xg.154902101C>GCA414904817F8c.6065G>C (p.Gly2022Ala)
c.5960G>C (p.Gly1987Ala)
Xg.154902101C>TCA414904814F8c.6065G>A (p.Gly2022Asp)
c.5960G>A (p.Gly1987Asp)
 dbSNP
Xg.154902102C>ACA414904831F8c.6064G>T (p.Gly2022Cys)
c.5959G>T (p.Gly1987Cys)
Xg.154902102C>GCA414904836F8c.6064G>C (p.Gly2022Arg)
c.5959G>C (p.Gly1987Arg)
Xg.154902102C>TCA414904839F8c.6064G>A (p.Gly2022Ser)
c.5959G>A (p.Gly1987Ser)
Xg.154902103A>CCA414904842F8c.6063T>G (p.Ile2021Met)
c.5958T>G (p.Ile1986Met)
Xg.154902103A>GCA519355909F8c.6063T>C (p.Ile2021=)
c.5958T>C (p.Ile1986=)
Xg.154902103A>TCA519355907F8c.6063T>A (p.Ile2021=)
c.5958T>A (p.Ile1986=)
Xg.154902104A=CA2466827636F8c.6062T= (p.Ile2021=)
c.5957T= (p.Ile1986=)
Xg.154902104A>CCA414904845F8c.6062T>G (p.Ile2021Ser)
c.5957T>G (p.Ile1986Ser)
 dbSNP gnomAD v2 gnomAD v4
Xg.154902104A>GCA414904847F8c.6062T>C (p.Ile2021Thr)
c.5957T>C (p.Ile1986Thr)
 dbSNP gnomAD v2 gnomAD v4
Xg.154902104A>TCA414904850F8c.6062T>A (p.Ile2021Asn)
c.5957T>A (p.Ile1986Asn)
Xg.154902105T>ACA414904852F8c.6061A>T (p.Ile2021Phe)
c.5956A>T (p.Ile1986Phe)
Xg.154902105T>CCA414904855F8c.6061A>G (p.Ile2021Val)
c.5956A>G (p.Ile1986Val)
Xg.154902105T>GCA414904857F8c.6061A>C (p.Ile2021Leu)
c.5956A>C (p.Ile1986Leu)
Xg.154902106A>CCA519355920F8c.6060T>G (p.Leu2020=)
c.5955T>G (p.Leu1985=)
Xg.154902106A>GCA519355922F8c.6060T>C (p.Leu2020=)
c.5955T>C (p.Leu1985=)
Xg.154902106A>TCA519355924F8c.6060T>A (p.Leu2020=)
c.5955T>A (p.Leu1985=)
Xg.154902107A>CCA414904861F8c.6059T>G (p.Leu2020Arg)
c.5954T>G (p.Leu1985Arg)
Xg.154902107A>GCA414904863F8c.6059T>C (p.Leu2020Pro)
c.5954T>C (p.Leu1985Pro)
Xg.154902107A>TCA414904866F8c.6059T>A (p.Leu2020His)
c.5954T>A (p.Leu1985His)
Xg.154902108G>ACA414904869F8c.6058C>T (p.Leu2020Phe)
c.5953C>T (p.Leu1985Phe)
 COSMIC COSMIC
Xg.154902108G>CCA414904874F8c.6058C>G (p.Leu2020Val)
c.5953C>G (p.Leu1985Val)
Xg.154902108G>TCA414904872F8c.6058C>A (p.Leu2020Ile)
c.5953C>A (p.Leu1985Ile)
Xg.154902109G>ACA519355936F8c.6057C>T (p.Cys2019=)
c.5952C>T (p.Cys1984=)
Xg.154902109G>CCA414904876F8c.6057C>G (p.Cys2019Trp)
c.5952C>G (p.Cys1984Trp)
Xg.154902109G=CA2466827637F8c.6057C= (p.Cys2019=)
c.5952C= (p.Cys1984=)
Xg.154902109G>TCA414904887F8c.6057C>A (p.Cys2019Ter)
c.5952C>A (p.Cys1984Ter)
 dbSNP
Xg.154902110C>ACA414904890F8c.6056G>T (p.Cys2019Phe)
c.5951G>T (p.Cys1984Phe)
Xg.154902110C=CA2466827638F8c.6056G= (p.Cys2019=)
c.5951G= (p.Cys1984=)
Xg.154902110C>GCA414904892F8c.6056G>C (p.Cys2019Ser)
c.5951G>C (p.Cys1984Ser)
Xg.154902110C>TCA414904894F8c.6056G>A (p.Cys2019Tyr)
c.5951G>A (p.Cys1984Tyr)
 dbSNP
Xg.154902111A=CA2466827639F8c.6055T= (p.Cys2019=)
c.5950T= (p.Cys1984=)
Xg.154902111A>CCA414904898F8c.6055T>G (p.Cys2019Gly)
c.5950T>G (p.Cys1984Gly)
Xg.154902111A>GCA414904903F8c.6055T>C (p.Cys2019Arg)
c.5950T>C (p.Cys1984Arg)
 dbSNP
Xg.154902111A>TCA414904904F8c.6055T>A (p.Cys2019Ser)
c.5950T>A (p.Cys1984Ser)
 gnomAD v4
Xg.154902112T>ACA414904909F8c.6054A>T (p.Glu2018Asp)
c.5949A>T (p.Glu1983Asp)
Xg.154902112T>CCA519355947F8c.6054A>G (p.Glu2018=)
c.5949A>G (p.Glu1983=)
Xg.154902112T>GCA414904911F8c.6054A>C (p.Glu2018Asp)
c.5949A>C (p.Glu1983Asp)
Xg.154902113T>ACA414904919F8c.6053A>T (p.Glu2018Val)
c.5948A>T (p.Glu1983Val)
Xg.154902113T>CCA414904914F8c.6053A>G (p.Glu2018Gly)
c.5948A>G (p.Glu1983Gly)
 dbSNP
Xg.154902113T>GCA414904917F8c.6053A>C (p.Glu2018Ala)
c.5948A>C (p.Glu1983Ala)
Xg.154902113T=CA2466827640F8c.6053A= (p.Glu2018=)
c.5948A= (p.Glu1983=)
Xg.154902114C>ACA414904922F8c.6052G>T (p.Glu2018Ter)
c.5947G>T (p.Glu1983Ter)
 dbSNP
Xg.154902114C=CA2466827641F8c.6052G= (p.Glu2018=)
c.5947G= (p.Glu1983=)
Xg.154902114C>GCA414904927F8c.6052G>C (p.Glu2018Gln)
c.5947G>C (p.Glu1983Gln)
Xg.154902114C>TCA414904925F8c.6052G>A (p.Glu2018Lys)
c.5947G>A (p.Glu1983Lys)
 ClinVar
Xg.154902115delCA2695237886F8c.6052del (p.Glu2018AsnfsTer12)
c.5947del (p.Glu1983AsnfsTer12)
Xg.154902115C>ACA519355949F8c.6051G>T (p.Val2017=)
c.5946G>T (p.Val1982=)
Xg.154902115C>GCA519355950F8c.6051G>C (p.Val2017=)
c.5946G>C (p.Val1982=)
 gnomAD v4
Xg.154902115C>TCA519355951F8c.6051G>A (p.Val2017=)
c.5946G>A (p.Val1982=)
 gnomAD v4 COSMIC COSMIC
Xg.154902116A=CA2466827643F8c.6050T= (p.Val2017=)
c.5945T= (p.Val1982=)
Xg.154902116A>CCA414904930F8c.6050T>G (p.Val2017Gly)
c.5945T>G (p.Val1982Gly)
Xg.154902116A>GCA414904934F8c.6050T>C (p.Val2017Ala)
c.5945T>C (p.Val1982Ala)
 dbSNP
Xg.154902116A>TCA414904931F8c.6050T>A (p.Val2017Glu)
c.5945T>A (p.Val1982Glu)
Xg.154902116_154902117delinsACCA2466827642F8c.6049_6050delinsGT (p.Val2017=)
c.5944_5945delinsGT (p.Val1982=)
Xg.154902117C>ACA414904937F8c.6049G>T (p.Val2017Leu)
c.5944G>T (p.Val1982Leu)
Xg.154902117C=CA2466827644F8c.6049G= (p.Val2017=)
c.5944G= (p.Val1982=)
Xg.154902117C>GCA414904939F8c.6049G>C (p.Val2017Leu)
c.5944G>C (p.Val1982Leu)
Xg.154902117C>TCA414904941F8c.6049G>A (p.Val2017Met)
c.5944G>A (p.Val1982Met)
 dbSNP gnomAD v4
Xg.154902119delCA255194F8c.6049del (p.Val2017TrpfsTer13)
c.5944del (p.Val1982TrpfsTer13)
 ClinVar dbSNP
Xg.154902118C>ACA519355953F8c.6048G>T (p.Arg2016=)
c.5943G>T (p.Arg1981=)
 gnomAD v4
Xg.154902118C>GCA519355955F8c.6048G>C (p.Arg2016=)
c.5943G>C (p.Arg1981=)
Xg.154902118C>TCA519355954F8c.6048G>A (p.Arg2016=)
c.5943G>A (p.Arg1981=)
 dbSNP
Xg.154902119C>ACA414904946F8c.6047G>T (p.Arg2016Leu)
c.5942G>T (p.Arg1981Leu)
 dbSNP
Xg.154902119C=CA2466827645F8c.6047G= (p.Arg2016=)
c.5942G= (p.Arg1981=)
Xg.154902119C>GCA414904949F8c.6047G>C (p.Arg2016Pro)
c.5942G>C (p.Arg1981Pro)
Xg.154902119C>TCA414904951F8c.6047G>A (p.Arg2016Gln)
c.5942G>A (p.Arg1981Gln)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
Xg.154902120G>ACA255197F8c.6046C>T (p.Arg2016Trp)
c.5941C>T (p.Arg1981Trp)
 ClinVar dbSNP gnomAD v4
Xg.154902120G>CCA414904955F8c.6046C>G (p.Arg2016Gly)
c.5941C>G (p.Arg1981Gly)
Xg.154902120G=CA2466827646F8c.6046C= (p.Arg2016=)
c.5941C= (p.Arg1981=)
Xg.154902120G>TCA519355956F8c.6046C>A (p.Arg2016=)
c.5941C>A (p.Arg1981=)
Xg.154902121C>ACA414904961F8c.6045G>T (p.Trp2015Cys)
c.5940G>T (p.Trp1980Cys)
 dbSNP
Xg.154902121C=CA2466827647F8c.6045G= (p.Trp2015=)
c.5940G= (p.Trp1980=)
Xg.154902121C>GCA414904960F8c.6045G>C (p.Trp2015Cys)
c.5940G>C (p.Trp1980Cys)
Xg.154902121C>TCA414904959F8c.6045G>A (p.Trp2015Ter)
c.5940G>A (p.Trp1980Ter)
Xg.154902122C>ACA414904963F8c.6044G>T (p.Trp2015Leu)
c.5939G>T (p.Trp1980Leu)
Xg.154902122C=CA2466827648F8c.6044G= (p.Trp2015=)
c.5939G= (p.Trp1980=)
Xg.154902122C>GCA414904964F8c.6044G>C (p.Trp2015Ser)
c.5939G>C (p.Trp1980Ser)
Xg.154902122C>TCA414904965F8c.6044G>A (p.Trp2015Ter)
c.5939G>A (p.Trp1980Ter)
 dbSNP
Xg.154902123A=CA2466827649F8c.6043T= (p.Trp2015=)
c.5938T= (p.Trp1980=)
Xg.154902123A>CCA414904967F8c.6043T>G (p.Trp2015Gly)
c.5938T>G (p.Trp1980Gly)
Xg.154902123A>GCA414904969F8c.6043T>C (p.Trp2015Arg)
c.5938T>C (p.Trp1980Arg)
 ClinVar dbSNP
Xg.154902123A>TCA414904970F8c.6043T>A (p.Trp2015Arg)
c.5938T>A (p.Trp1980Arg)
Xg.154902124A>CCA414904972F8c.6042T>G (p.Ile2014Met)
c.5937T>G (p.Ile1979Met)
Xg.154902124A>GCA519355957F8c.6042T>C (p.Ile2014=)
c.5937T>C (p.Ile1979=)
Xg.154902124A>TCA519355958F8c.6042T>A (p.Ile2014=)
c.5937T>A (p.Ile1979=)
Xg.154902125A>CCA414904976F8c.6041T>G (p.Ile2014Ser)
c.5936T>G (p.Ile1979Ser)
Xg.154902125A>GCA414904978F8c.6041T>C (p.Ile2014Thr)
c.5936T>C (p.Ile1979Thr)
Xg.154902125A>TCA414904979F8c.6041T>A (p.Ile2014Asn)
c.5936T>A (p.Ile1979Asn)
Xg.154902128_154902148delCA2695237888F8c.6021_6041del (p.Met2007_Gly2013del)
c.5916_5936del (p.Met1972_Gly1978del)
Xg.154902126T>ACA414904985F8c.6040A>T (p.Ile2014Phe)
c.5935A>T (p.Ile1979Phe)
Xg.154902126T>CCA414904982F8c.6040A>G (p.Ile2014Val)
c.5935A>G (p.Ile1979Val)
Xg.154902126T>GCA414904981F8c.6040A>C (p.Ile2014Leu)
c.5935A>C (p.Ile1979Leu)
Xg.154902127T>ACA519355959F8c.6039A>T (p.Gly2013=)
c.5934A>T (p.Gly1978=)
Xg.154902127T>CCA519355960F8c.6039A>G (p.Gly2013=)
c.5934A>G (p.Gly1978=)
Xg.154902127T>GCA519355961F8c.6039A>C (p.Gly2013=)
c.5934A>C (p.Gly1978=)
Xg.154902128C>ACA414904987F8c.6038G>T (p.Gly2013Val)
c.5933G>T (p.Gly1978Val)
Xg.154902128C>GCA414904988F8c.6038G>C (p.Gly2013Ala)
c.5933G>C (p.Gly1978Ala)
Xg.154902128C>TCA414904993F8c.6038G>A (p.Gly2013Glu)
c.5933G>A (p.Gly1978Glu)
Xg.154902129C>ACA414904996F8c.6037G>T (p.Gly2013Ter)
c.5932G>T (p.Gly1978Ter)
Xg.154902129C>GCA414904997F8c.6037G>C (p.Gly2013Arg)
c.5932G>C (p.Gly1978Arg)
Xg.154902129C>TCA414904999F8c.6037G>A (p.Gly2013Arg)
c.5932G>A (p.Gly1978Arg)
Xg.154902130A>CCA519355963F8c.6036T>G (p.Ala2012=)
c.5931T>G (p.Ala1977=)
Xg.154902130A>GCA519355964F8c.6036T>C (p.Ala2012=)
c.5931T>C (p.Ala1977=)
Xg.154902130A>TCA519355965F8c.6036T>A (p.Ala2012=)
c.5931T>A (p.Ala1977=)
Xg.154902131G>ACA414905001F8c.6035C>T (p.Ala2012Val)
c.5930C>T (p.Ala1977Val)
Xg.154902131G>CCA414905003F8c.6035C>G (p.Ala2012Gly)
c.5930C>G (p.Ala1977Gly)
Xg.154902131G>TCA414905005F8c.6035C>A (p.Ala2012Asp)
c.5930C>A (p.Ala1977Asp)
Xg.154902132C>ACA414905008F8c.6034G>T (p.Ala2012Ser)
c.5929G>T (p.Ala1977Ser)
Xg.154902132C>GCA414905011F8c.6034G>C (p.Ala2012Pro)
c.5929G>C (p.Ala1977Pro)
Xg.154902132C>TCA414905016F8c.6034G>A (p.Ala2012Thr)
c.5929G>A (p.Ala1977Thr)
Xg.154902133T>ACA414905017F8c.6033A>T (p.Lys2011Asn)
c.5928A>T (p.Lys1976Asn)
Xg.154902133T>CCA519355966F8c.6033A>G (p.Lys2011=)
c.5928A>G (p.Lys1976=)
Xg.154902133T>GCA414905018F8c.6033A>C (p.Lys2011Asn)
c.5928A>C (p.Lys1976Asn)
Xg.154902134T>ACA414905021F8c.6032A>T (p.Lys2011Ile)
c.5927A>T (p.Lys1976Ile)
Xg.154902134T>CCA414905023F8c.6032A>G (p.Lys2011Arg)
c.5927A>G (p.Lys1976Arg)
Xg.154902134T>GCA414905025F8c.6032A>C (p.Lys2011Thr)
c.5927A>C (p.Lys1976Thr)
Xg.154902135T>ACA414905028F8c.6031A>T (p.Lys2011Ter)
c.5926A>T (p.Lys1976Ter)
Xg.154902135T>CCA414905029F8c.6031A>G (p.Lys2011Glu)
c.5926A>G (p.Lys1976Glu)
Xg.154902135T>GCA414905035F8c.6031A>C (p.Lys2011Gln)
c.5926A>C (p.Lys1976Gln)
Xg.154902135_154902136insCTTCCTTTCTCA2520132336F8c.6031_6032insGAAAGGAAGA (p.Lys2011ArgfsTer32)
c.5926_5927insGAAAGGAAGA (p.Lys1976ArgfsTer32)
Xg.154902136G>ACA10567914F8c.6030C>T (p.Ser2010=)
c.5925C>T (p.Ser1975=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154902136G>CCA519355968F8c.6030C>G (p.Ser2010=)
c.5925C>G (p.Ser1975=)
Xg.154902136G=CA2466827650F8c.6030C= (p.Ser2010=)
c.5925C= (p.Ser1975=)
Xg.154902136G>TCA519355969F8c.6030C>A (p.Ser2010=)
c.5925C>A (p.Ser1975=)
Xg.154902137delCA2695237890F8c.6030del (p.Ala2012LeufsTer18)
c.5925del (p.Ala1977LeufsTer18)
Xg.154902137G>ACA414905039F8c.6029C>T (p.Ser2010Phe)
c.5924C>T (p.Ser1975Phe)
Xg.154902137G>CCA414905040F8c.6029C>G (p.Ser2010Cys)
c.5924C>G (p.Ser1975Cys)
Xg.154902137G=CA2466827651F8c.6029C= (p.Ser2010=)
c.5924C= (p.Ser1975=)
Xg.154902137G>TCA414905042F8c.6029C>A (p.Ser2010Tyr)
c.5924C>A (p.Ser1975Tyr)
 gnomAD v4
Xg.154902138delCA2695237891F8c.6028del (p.Ser2010ProfsTer20)
c.5923del (p.Ser1975ProfsTer20)
Xg.154902138A=CA2466827652F8c.6028T= (p.Ser2010=)
c.5923T= (p.Ser1975=)
Xg.154902138A>CCA414905050F8c.6028T>G (p.Ser2010Ala)
c.5923T>G (p.Ser1975Ala)
Xg.154902138A>GCA414905047F8c.6028T>C (p.Ser2010Pro)
c.5923T>C (p.Ser1975Pro)
 dbSNP gnomAD v3 gnomAD v4
Xg.154902138A>TCA414905045F8c.6028T>A (p.Ser2010Thr)
c.5923T>A (p.Ser1975Thr)
 dbSNP gnomAD v2 gnomAD v4
Xg.154902138dupCA873340122F8c.6028dup (p.Ser2010PhefsTer30)
c.5923dup (p.Ser1975PhefsTer30)
 dbSNP
Xg.154902139T>ACA519355972F8c.6027A>T (p.Pro2009=)
c.5922A>T (p.Pro1974=)
Xg.154902139T>CCA519355971F8c.6027A>G (p.Pro2009=)
c.5922A>G (p.Pro1974=)
Xg.154902139T>GCA519355970F8c.6027A>C (p.Pro2009=)
c.5922A>C (p.Pro1974=)
 gnomAD v4
Xg.154902140G>ACA414905054F8c.6026C>T (p.Pro2009Leu)
c.5921C>T (p.Pro1974Leu)
Xg.154902140G>CCA414905053F8c.6026C>G (p.Pro2009Arg)
c.5921C>G (p.Pro1974Arg)
Xg.154902140G>TCA414905058F8c.6026C>A (p.Pro2009Gln)
c.5921C>A (p.Pro1974Gln)
Xg.154902141G>ACA414905060F8c.6025C>T (p.Pro2009Ser)
c.5920C>T (p.Pro1974Ser)
 dbSNP
Xg.154902141G>CCA414905062F8c.6025C>G (p.Pro2009Ala)
c.5920C>G (p.Pro1974Ala)
Xg.154902141G=CA2466827653F8c.6025C= (p.Pro2009=)
c.5920C= (p.Pro1974=)
Xg.154902141G>TCA414905064F8c.6025C>A (p.Pro2009Thr)
c.5920C>A (p.Pro1974Thr)
Xg.154902142T>ACA414905068F8c.6024A>T (p.Leu2008Phe)
c.5919A>T (p.Leu1973Phe)
Xg.154902142T>CCA519355976F8c.6024A>G (p.Leu2008=)
c.5919A>G (p.Leu1973=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.154902142T>GCA414905070F8c.6024A>C (p.Leu2008Phe)
c.5919A>C (p.Leu1973Phe)
Xg.154902142T=CA2466827654F8c.6024A= (p.Leu2008=)
c.5919A= (p.Leu1973=)
Xg.154902143A>CCA414905071F8c.6023T>G (p.Leu2008Ter)
c.5918T>G (p.Leu1973Ter)
Xg.154902143A>GCA414905072F8c.6023T>C (p.Leu2008Ser)
c.5918T>C (p.Leu1973Ser)
Xg.154902143A>TCA414905073F8c.6023T>A (p.Leu2008Ter)
c.5918T>A (p.Leu1973Ter)
Xg.154902144A>CCA414905074F8c.6022T>G (p.Leu2008Val)
c.5917T>G (p.Leu1973Val)
Xg.154902144A>GCA519355977F8c.6022T>C (p.Leu2008=)
c.5917T>C (p.Leu1973=)
Xg.154902144A>TCA414905075F8c.6022T>A (p.Leu2008Ile)
c.5917T>A (p.Leu1973Ile)
Xg.154902145delCA2695237894F8c.6021del (p.Met2007IlefsTer23)
c.5916del (p.Met1972IlefsTer23)
Xg.154902145C>ACA414905080F8c.6021G>T (p.Met2007Ile)
c.5916G>T (p.Met1972Ile)
Xg.154902145C>GCA414905078F8c.6021G>C (p.Met2007Ile)
c.5916G>C (p.Met1972Ile)
Xg.154902145C>TCA414905076F8c.6021G>A (p.Met2007Ile)
c.5916G>A (p.Met1972Ile)
Xg.154902146delCA2573055177F8c.6020del (p.Met2007SerfsTer23)
c.5915del (p.Met1972SerfsTer23)
 ClinVar dbSNP
Xg.154902146A=CA2466827655F8c.6020T= (p.Met2007=)
c.5915T= (p.Met1972=)
Xg.154902146A>CCA414905081F8c.6020T>G (p.Met2007Arg)
c.5915T>G (p.Met1972Arg)
Xg.154902146A>GCA414905083F8c.6020T>C (p.Met2007Thr)
c.5915T>C (p.Met1972Thr)
 dbSNP
Xg.154902146A>TCA414905085F8c.6020T>A (p.Met2007Lys)
c.5915T>A (p.Met1972Lys)
Xg.154902147T>ACA414905086F8c.6019A>T (p.Met2007Leu)
c.5914A>T (p.Met1972Leu)
Xg.154902147T>CCA414905087F8c.6019A>G (p.Met2007Val)
c.5914A>G (p.Met1972Val)
Xg.154902147T>GCA414905090F8c.6019A>C (p.Met2007Leu)
c.5914A>C (p.Met1972Leu)
Xg.154902149dupCA2695237896F8c.6019dup (p.Met2007AsnfsTer?)
c.5914dup (p.Met1972AsnfsTer?)
Xg.154902148T>ACA414905093F8c.6018A>T (p.Glu2006Asp)
c.5913A>T (p.Glu1971Asp)
 dbSNP
Xg.154902148T>CCA519355978F8c.6018A>G (p.Glu2006=)
c.5913A>G (p.Glu1971=)
Xg.154902148T>GCA414905094F8c.6018A>C (p.Glu2006Asp)
c.5913A>C (p.Glu1971Asp)
Xg.154902148T=CA2466827656F8c.6018A= (p.Glu2006=)
c.5913A= (p.Glu1971=)
Xg.154902149T>ACA414905098F8c.6017A>T (p.Glu2006Val)
c.5912A>T (p.Glu1971Val)
Xg.154902149T>CCA414905100F8c.6017A>G (p.Glu2006Gly)
c.5912A>G (p.Glu1971Gly)
Xg.154902149T>GCA414905103F8c.6017A>C (p.Glu2006Ala)
c.5912A>C (p.Glu1971Ala)
Xg.154902150C>ACA255195F8c.6016G>T (p.Glu2006Ter)
c.5911G>T (p.Glu1971Ter)
 ClinVar dbSNP
Xg.154902150C=CA2466827657F8c.6016G= (p.Glu2006=)
c.5911G= (p.Glu1971=)
Xg.154902150C>GCA414905110F8c.6016G>C (p.Glu2006Gln)
c.5911G>C (p.Glu1971Gln)
Xg.154902150C>TCA414905108F8c.6016G>A (p.Glu2006Lys)
c.5911G>A (p.Glu1971Lys)
 dbSNP gnomAD v4 COSMIC COSMIC
Xg.154902151C>ACA519355979F8c.6015G>T (p.Val2005=)
c.5910G>T (p.Val1970=)
Xg.154902151C=CA2466827658F8c.6015G= (p.Val2005=)
c.5910G= (p.Val1970=)
Xg.154902151C>GCA519355980F8c.6015G>C (p.Val2005=)
c.5910G>C (p.Val1970=)
Xg.154902151C>TCA519355981F8c.6015G>A (p.Val2005=)
c.5910G>A (p.Val1970=)
 dbSNP
Xg.154902152A>CCA414905117F8c.6014T>G (p.Val2005Gly)
c.5909T>G (p.Val1970Gly)
Xg.154902152A>GCA414905121F8c.6014T>C (p.Val2005Ala)
c.5909T>C (p.Val1970Ala)
Xg.154902152A>TCA414905123F8c.6014T>A (p.Val2005Glu)
c.5909T>A (p.Val1970Glu)
Xg.154902153C>ACA414905126F8c.6013G>T (p.Val2005Leu)
c.5908G>T (p.Val1970Leu)
Xg.154902153C>GCA414905128F8c.6013G>C (p.Val2005Leu)
c.5908G>C (p.Val1970Leu)
Xg.154902153C>TCA414905130F8c.6013G>A (p.Val2005Met)
c.5908G>A (p.Val1970Met)
 gnomAD v4
Xg.154902154T>ACA519355983F8c.6012A>T (p.Thr2004=)
c.5907A>T (p.Thr1969=)
Xg.154902154T>CCA337317659F8c.6012A>G (p.Thr2004=)
c.5907A>G (p.Thr1969=)
 dbSNP gnomAD v4
Xg.154902154T>GCA519355984F8c.6012A>C (p.Thr2004=)
c.5907A>C (p.Thr1969=)
Xg.154902154T=CA2466827659F8c.6012A= (p.Thr2004=)
c.5907A= (p.Thr1969=)
Xg.154902155G>ACA414905135F8c.6011C>T (p.Thr2004Ile)
c.5906C>T (p.Thr1969Ile)
 dbSNP
Xg.154902155G>CCA414905139F8c.6011C>G (p.Thr2004Arg)
c.5906C>G (p.Thr1969Arg)
Xg.154902155G=CA2466827660F8c.6011C= (p.Thr2004=)
c.5906C= (p.Thr1969=)
Xg.154902155G>TCA414905140F8c.6011C>A (p.Thr2004Lys)
c.5906C>A (p.Thr1969Lys)
 gnomAD v4
Xg.154902156T>ACA414905142F8c.6010A>T (p.Thr2004Ser)
c.5905A>T (p.Thr1969Ser)
Xg.154902156T>CCA414905143F8c.6010A>G (p.Thr2004Ala)
c.5905A>G (p.Thr1969Ala)
 ClinVar
Xg.154902156T>GCA414905144F8c.6010A>C (p.Thr2004Pro)
c.5905A>C (p.Thr1969Pro)
 dbSNP
Xg.154902156T=CA2466827661F8c.6010A= (p.Thr2004=)
c.5905A= (p.Thr1969=)
Xg.154902157C>ACA414905145F8c.6009G>T (p.Glu2003Asp)
c.5904G>T (p.Glu1968Asp)
Xg.154902157C>GCA414905147F8c.6009G>C (p.Glu2003Asp)
c.5904G>C (p.Glu1968Asp)
Xg.154902157C>TCA519355987F8c.6009G>A (p.Glu2003=)
c.5904G>A (p.Glu1968=)
Xg.154902158T>ACA414905152F8c.6008A>T (p.Glu2003Val)
c.5903A>T (p.Glu1968Val)
Xg.154902158T>CCA414905153F8c.6008A>G (p.Glu2003Gly)
c.5903A>G (p.Glu1968Gly)
Xg.154902158T>GCA414905155F8c.6008A>C (p.Glu2003Ala)
c.5903A>C (p.Glu1968Ala)
Xg.154902159C>ACA414905158F8c.6007G>T (p.Glu2003Ter)
c.5902G>T (p.Glu1968Ter)
Xg.154902159C=CA2466827662F8c.6007G= (p.Glu2003=)
c.5902G= (p.Glu1968=)
Xg.154902159C>GCA414905160F8c.6007G>C (p.Glu2003Gln)
c.5902G>C (p.Glu1968Gln)
Xg.154902159C>TCA414905161F8c.6007G>A (p.Glu2003Lys)
c.5902G>A (p.Glu1968Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154902159delinsAACA2695237900F8c.6007delinsTT (p.Glu2003LeufsTer?)
c.5902delinsTT (p.Glu1968LeufsTer?)
Xg.154902160A>CCA414905169F8c.6006T>G (p.Phe2002Leu)
c.5901T>G (p.Phe1967Leu)
Xg.154902160A>GCA519355988F8c.6006T>C (p.Phe2002=)
c.5901T>C (p.Phe1967=)
 gnomAD v4
Xg.154902160A>TCA414905174F8c.6006T>A (p.Phe2002Leu)
c.5901T>A (p.Phe1967Leu)
Xg.154902164dupCA2695237901F8c.6006dup (p.Glu2003Ter)
c.5901dup (p.Glu1968Ter)
Xg.154902164delCA2579744481F8c.6006del (p.Phe2002LeufsTer28)
c.5901del (p.Phe1967LeufsTer28)
 gnomAD v4
Xg.154902162_154902177delCA2695237902F8c.5999-8_6006del
c.5894-8_5901del
Xg.154902161A>CCA414905177F8c.6005T>G (p.Phe2002Cys)
c.5900T>G (p.Phe1967Cys)
Xg.154902161A>GCA414905178F8c.6005T>C (p.Phe2002Ser)
c.5900T>C (p.Phe1967Ser)
Xg.154902161A>TCA414905180F8c.6005T>A (p.Phe2002Tyr)
c.5900T>A (p.Phe1967Tyr)
Xg.154902162A>CCA414905186F8c.6004T>G (p.Phe2002Val)
c.5899T>G (p.Phe1967Val)
Xg.154902162A>GCA414905193F8c.6004T>C (p.Phe2002Leu)
c.5899T>C (p.Phe1967Leu)
Xg.154902162A>TCA414905183F8c.6004T>A (p.Phe2002Ile)
c.5899T>A (p.Phe1967Ile)
Xg.154902163A>CCA519355989F8c.6003T>G (p.Val2001=)
c.5898T>G (p.Val1966=)
Xg.154902163A>GCA519355990F8c.6003T>C (p.Val2001=)
c.5898T>C (p.Val1966=)
 gnomAD v4
Xg.154902163A>TCA519355991F8c.6003T>A (p.Val2001=)
c.5898T>A (p.Val1966=)
Xg.154902163_154902170delinsAACACCTTCA2466827663F8c.5999-3_6003delinsAAGGTGTT
c.5894-3_5898delinsAAGGTGTT
Xg.154902167_154902189delCA2695237903F8c.5999-18_6003del
c.5894-18_5898del
Xg.154902164A>CCA414905195F8c.6002T>G (p.Val2001Gly)
c.5897T>G (p.Val1966Gly)
Xg.154902164A>GCA414905200F8c.6002T>C (p.Val2001Ala)
c.5897T>C (p.Val1966Ala)
Xg.154902164A>TCA414905198F8c.6002T>A (p.Val2001Asp)
c.5897T>A (p.Val1966Asp)
Xg.154902165_154902171delCA873340145F8c.5999-3_6002del
c.5894-3_5897del
 dbSNP
Xg.154902165C>ACA414905204F8c.6001G>T (p.Val2001Phe)
c.5896G>T (p.Val1966Phe)
Xg.154902165C>GCA414905213F8c.6001G>C (p.Val2001Leu)
c.5896G>C (p.Val1966Leu)
 gnomAD v4
Xg.154902165C>TCA414905211F8c.6001G>A (p.Val2001Ile)
c.5896G>A (p.Val1966Ile)
Xg.154902166A>CCA519355993F8c.6000T>G (p.Gly2000=)
c.5895T>G (p.Gly1965=)
Xg.154902166A>GCA519355992F8c.6000T>C (p.Gly2000=)
c.5895T>C (p.Gly1965=)
 gnomAD v4
Xg.154902166A>TCA519355994F8c.6000T>A (p.Gly2000=)
c.5895T>A (p.Gly1965=)
Xg.154902167C>ACA414905214F8c.5999G>T (p.Gly2000Val)
c.5894G>T (p.Gly1965Val)
 ClinVar dbSNP gnomAD v4
Xg.154902167C=CA2466827664F8c.5999G= (p.Gly2000=)
c.5894G= (p.Gly1965=)
Xg.154902167C>GCA414905225F8c.5999G>C (p.Gly2000Ala)
c.5894G>C (p.Gly1965Ala)
 ClinVar dbSNP
Xg.154902167C>TCA414905222F8c.5999G>A (p.Gly2000Asp)
c.5894G>A (p.Gly1965Asp)
Xg.154902168C>ACA414905229F8c.5999-1G>T (n.5999-1G>T)
c.5894-1G>T (n.5894-1G>T)
Xg.154902168C>GCA414905235F8c.5999-1G>C (n.5999-1G>C)
c.5894-1G>C (n.5894-1G>C)
Xg.154902168C>TCA414905232F8c.5999-1G>A (n.5999-1G>A)
c.5894-1G>A (n.5894-1G>A)
 ClinVar gnomAD v4
Xg.154902168_154902169delCA2695237905F8c.5999-2_5999-1del (n.5999-2_5999-1del)
c.5894-2_5894-1del (n.5894-2_5894-1del)
Xg.154902169T>ACA414905237F8c.5999-2A>T (n.5999-2A>T)
c.5894-2A>T (n.5894-2A>T)
 gnomAD v4 COSMIC COSMIC
Xg.154902169T>CCA414905242F8c.5999-2A>G (n.5999-2A>G)
c.5894-2A>G (n.5894-2A>G)
 gnomAD v4
Xg.154902169T>GCA414905244F8c.5999-2A>C (n.5999-2A>C)
c.5894-2A>C (n.5894-2A>C)
 ClinVar dbSNP
Xg.154902170delCA2579744482F8c.5999-2del (n.5999-2del)
c.5894-2del (n.5894-2del)
Xg.154902170T>CCA2695152874F8c.5999-3A>G (n.5999-3A>G)
c.5894-3A>G (n.5894-3A>G)
 gnomAD v4
Xg.154902171A>GCA2695152875F8c.5999-4T>C (n.5999-4T>C)
c.5894-4T>C (n.5894-4T>C)
 gnomAD v4
Xg.154902173A=CA2466827665F8c.5999-6T= (n.5999-6T=)
c.5894-6T= (n.5894-6T=)
Xg.154902173A>GCA10567915F8c.5999-6T>C (n.5999-6T>C)
c.5894-6T>C (n.5894-6T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154902177dupCA2579744483F8c.5999-6dup (n.5999-6dup)
c.5894-6dup (n.5894-6dup)
Xg.154902175A>GCA2695152876F8c.5999-8T>C (n.5999-8T>C)
c.5894-8T>C (n.5894-8T>C)
 gnomAD v4
Xg.154902177A>GCA2695152877F8c.5999-10T>C (n.5999-10T>C)
c.5894-10T>C (n.5894-10T>C)
 gnomAD v4
Xg.154902178C=CA2466827666F8c.5999-11G= (n.5999-11G=)
c.5894-11G= (n.5894-11G=)
Xg.154902178C>TCA10567916F8c.5999-11G>A (n.5999-11G>A)
c.5894-11G>A (n.5894-11G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154902179C>ACA2579744484F8c.5999-12G>T (n.5999-12G>T)
c.5894-12G>T (n.5894-12G>T)
 gnomAD v4
Xg.154902179C=CA2466827667F8c.5999-12G= (n.5999-12G=)
c.5894-12G= (n.5894-12G=)
Xg.154902179C>TCA2466827668F8c.5999-12G>A (n.5999-12G>A)
c.5894-12G>A (n.5894-12G>A)
 dbSNP gnomAD v4
Xg.154902180A>GCA2579744485F8c.5999-13T>C (n.5999-13T>C)
c.5894-13T>C (n.5894-13T>C)
Xg.154902181A>CCA2695152878F8c.5999-14T>G (n.5999-14T>G)
c.5894-14T>G (n.5894-14T>G)
 gnomAD v4
Xg.154902181A>GCA2695152879F8c.5999-14T>C (n.5999-14T>C)
c.5894-14T>C (n.5894-14T>C)
 gnomAD v4
Xg.154902183A>GCA2695152880F8c.5999-16T>C (n.5999-16T>C)
c.5894-16T>C (n.5894-16T>C)
 gnomAD v4
Xg.154902184G>ACA2695152881F8c.5999-17C>T (n.5999-17C>T)
c.5894-17C>T (n.5894-17C>T)
 gnomAD v4
Xg.154902184G>TCA2695152882F8c.5999-17C>A (n.5999-17C>A)
c.5894-17C>A (n.5894-17C>A)
 gnomAD v4
Xg.154902185G>TCA2579744486F8c.5999-18C>A (n.5999-18C>A)
c.5894-18C>A (n.5894-18C>A)
 gnomAD v4
Xg.154902187A>GCA2695152883F8c.5999-20T>C (n.5999-20T>C)
c.5894-20T>C (n.5894-20T>C)
 gnomAD v4
Xg.154902188C>ACA2579744487F8c.5999-21G>T (n.5999-21G>T)
c.5894-21G>T (n.5894-21G>T)
 gnomAD v4
Xg.154902188C=CA2466827669F8c.5999-21G= (n.5999-21G=)
c.5894-21G= (n.5894-21G=)
Xg.154902188C>GCA873340151F8c.5999-21G>C (n.5999-21G>C)
c.5894-21G>C (n.5894-21G>C)
 dbSNP
Xg.154902190_154902191delCA2695237907F8c.5999-23_5999-22del (n.5999-23_5999-22del)
c.5894-23_5894-22del (n.5894-23_5894-22del)
Xg.154902189_154902200delinsGAATCA2695237908F8c.5999-33_5999-22delinsATTC (n.5999-33_5999-22delinsATTC)
c.5894-33_5894-22delinsATTC (n.5894-33_5894-22delinsATTC)
Xg.154902190G>ACA2579744488F8c.5999-23C>T (n.5999-23C>T)
c.5894-23C>T (n.5894-23C>T)
Xg.154902190G>TCA2695152884F8c.5999-23C>A (n.5999-23C>A)
c.5894-23C>A (n.5894-23C>A)
 gnomAD v4
Xg.154902191A>CCA2695237909F8c.5999-24T>G (n.5999-24T>G)
c.5894-24T>G (n.5894-24T>G)
Xg.154902193A=CA2466827670F8c.5999-26T= (n.5999-26T=)
c.5894-26T= (n.5894-26T=)
Xg.154902193A>GCA645251841F8c.5999-26T>C (n.5999-26T>C)
c.5894-26T>C (n.5894-26T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154902194T>CCA2695237910F8c.5999-27A>G (n.5999-27A>G)
c.5894-27A>G (n.5894-27A>G)
Xg.154902195T>ACA2579744489F8c.5999-28A>T (n.5999-28A>T)
c.5894-28A>T (n.5894-28A>T)
 gnomAD v4
Xg.154902196_154902201delCA2695237911F8c.5999-33_5999-28del (n.5999-33_5999-28del)
c.5894-33_5894-28del (n.5894-33_5894-28del)

Number of alleles fetched