Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.113148957C>ACA388791787F10c.907C>A (p.His303Asn)
c.897C>A (p.Cys299Ter)
c.903C>A (p.Cys301Ter)
c.775C>A (p.His259Asn)
13g.113148957C>GCA388791785F10c.907C>G (p.His303Asp)
c.897C>G (p.Cys299Trp)
c.903C>G (p.Cys301Trp)
c.775C>G (p.His259Asp)
13g.113148957C>TCA388791784F10c.907C>T (p.His303Tyr)
c.897C>T (p.Cys299=)
c.903C>T (p.Cys301=)
c.775C>T (p.His259Tyr)
13g.113148958A>CCA388791790F10c.908A>C (p.His303Pro)
c.898A>C (p.Thr300Pro)
c.904A>C (p.Thr302Pro)
c.776A>C (p.His259Pro)
13g.113148958A>GCA388791791F10c.908A>G (p.His303Arg)
c.898A>G (p.Thr300Ala)
c.904A>G (p.Thr302Ala)
c.776A>G (p.His259Arg)
13g.113148958A>TCA388791793F10c.908A>T (p.His303Leu)
c.898A>T (p.Thr300Ser)
c.904A>T (p.Thr302Ser)
c.776A>T (p.His259Leu)
13g.113148959C>ACA388791795F10c.909C>A (p.His303Gln)
c.899C>A (p.Thr300Lys)
c.905C>A (p.Thr302Lys)
c.777C>A (p.His259Gln)
13g.113148959C=CA2120139886F10c.909C= (p.His303=)
c.899C= (p.Thr300=)
c.905C= (p.Thr302=)
c.777C= (p.His259=)
13g.113148959C>GCA388791798F10c.909C>G (p.His303Gln)
c.899C>G (p.Thr300Arg)
c.905C>G (p.Thr302Arg)
c.777C>G (p.His259Gln)
 gnomAD v4
13g.113148959C>TCA7060634F10c.909C>T (p.His303=)
c.899C>T (p.Thr300Met)
c.905C>T (p.Thr302Met)
c.777C>T (p.His259=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113148960G>ACA7060635F10c.910G>A (p.Glu304Lys)
c.900G>A (p.Thr300=)
c.906G>A (p.Thr302=)
c.778G>A (p.Glu260Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113148960G>CCA388791802F10c.910G>C (p.Glu304Gln)
c.900G>C (p.Thr300=)
c.906G>C (p.Thr302=)
c.778G>C (p.Glu260Gln)
13g.113148960G=CA2120139893F10c.910G= (p.Glu304=)
c.900G= (p.Thr300=)
c.906G= (p.Thr302=)
c.778G= (p.Glu260=)
13g.113148960G>TCA388791804F10c.910G>T (p.Glu304Ter)
c.900G>T (p.Thr300=)
c.906G>T (p.Thr302=)
c.778G>T (p.Glu260Ter)
13g.113148961A>CCA388791806F10c.911A>C (p.Glu304Ala)
c.901A>C (p.Arg301=)
c.907A>C (p.Arg303=)
c.779A>C (p.Glu260Ala)
13g.113148961A>GCA388791808F10c.911A>G (p.Glu304Gly)
c.901A>G (p.Arg301Gly)
c.907A>G (p.Arg303Gly)
c.779A>G (p.Glu260Gly)
13g.113148961A>TCA388791811F10c.911A>T (p.Glu304Val)
c.901A>T (p.Arg301Trp)
c.907A>T (p.Arg303Trp)
c.779A>T (p.Glu260Val)
13g.113148962G>ACA388791812F10c.912G>A (p.Glu304=)
c.902G>A (p.Arg301Lys)
c.908G>A (p.Arg303Lys)
c.780G>A (p.Glu260=)
13g.113148962G>CCA7060636F10c.912G>C (p.Glu304Asp)
c.902G>C (p.Arg301Thr)
c.908G>C (p.Arg303Thr)
c.780G>C (p.Glu260Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113148962G=CA2120139895F10c.912G= (p.Glu304=)
c.902G= (p.Arg301=)
c.908G= (p.Arg303=)
c.780G= (p.Glu260=)
13g.113148962G>TCA388791815F10c.912G>T (p.Glu304Asp)
c.902G>T (p.Arg301Met)
c.908G>T (p.Arg303Met)
c.780G>T (p.Glu260Asp)
13g.113148963G>ACA388791818F10c.913G>A (p.Val305Met)
c.903G>A (p.Arg301=)
c.909G>A (p.Arg303=)
c.781G>A (p.Val261Met)
13g.113148963G>CCA388791820F10c.913G>C (p.Val305Leu)
c.903G>C (p.Arg301Ser)
c.909G>C (p.Arg303Ser)
c.781G>C (p.Val261Leu)
13g.113148963G=CA2120139898F10c.913G= (p.Val305=)
c.903G= (p.Arg301=)
c.909G= (p.Arg303=)
c.781G= (p.Val261=)
13g.113148963G>TCA7060637F10c.913G>T (p.Val305Leu)
c.903G>T (p.Arg301Ser)
c.909G>T (p.Arg303Ser)
c.781G>T (p.Val261Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113148964T>ACA388791824F10c.914T>A (p.Val305Glu)
c.904T>A (p.Trp302Arg)
c.910T>A (p.Trp304Arg)
c.782T>A (p.Val261Glu)
13g.113148964T>CCA388791826F10c.914T>C (p.Val305Ala)
c.904T>C (p.Trp302Arg)
c.910T>C (p.Trp304Arg)
c.782T>C (p.Val261Ala)
13g.113148964T>GCA388791828F10c.914T>G (p.Val305Gly)
c.904T>G (p.Trp302Gly)
c.910T>G (p.Trp304Gly)
c.782T>G (p.Val261Gly)
 dbSNP
13g.113148964T=CA2120139902F10c.914T= (p.Val305=)
c.904T= (p.Trp302=)
c.910T= (p.Trp304=)
c.782T= (p.Val261=)
13g.113148965G>ACA388791831F10c.915G>A (p.Val305=)
c.905G>A (p.Trp302Ter)
c.911G>A (p.Trp304Ter)
c.783G>A (p.Val261=)
 gnomAD v4 COSMIC
13g.113148965G>CCA388791836F10c.915G>C (p.Val305=)
c.905G>C (p.Trp302Ser)
c.911G>C (p.Trp304Ser)
c.783G>C (p.Val261=)
13g.113148965G>TCA388791833F10c.915G>T (p.Val305=)
c.905G>T (p.Trp302Leu)
c.911G>T (p.Trp304Leu)
c.783G>T (p.Val261=)
13g.113148966G>ACA388791846F10c.916G>A (p.Glu306Lys)
c.906G>A (p.Trp302Ter)
c.912G>A (p.Trp304Ter)
c.784G>A (p.Glu262Lys)
 ClinVar dbSNP gnomAD v4
13g.113148966G>CCA388791849F10c.916G>C (p.Glu306Gln)
c.906G>C (p.Trp302Cys)
c.912G>C (p.Trp304Cys)
c.784G>C (p.Glu262Gln)
 dbSNP gnomAD v3 gnomAD v4
13g.113148966G=CA2120139907F10c.916G= (p.Glu306=)
c.906G= (p.Trp302=)
c.912G= (p.Trp304=)
c.784G= (p.Glu262=)
13g.113148966G>TCA388791851F10c.916G>T (p.Glu306Ter)
c.906G>T (p.Trp302Cys)
c.912G>T (p.Trp304Cys)
c.784G>T (p.Glu262Ter)
13g.113148967A>CCA388791856F10c.917A>C (p.Glu306Ala)
c.907A>C (p.Arg303=)
c.913A>C (p.Arg305=)
c.785A>C (p.Glu262Ala)
13g.113148967A>GCA388791859F10c.917A>G (p.Glu306Gly)
c.907A>G (p.Arg303Gly)
c.913A>G (p.Arg305Gly)
c.785A>G (p.Glu262Gly)
13g.113148967A>TCA388791868F10c.917A>T (p.Glu306Val)
c.907A>T (p.Arg303Trp)
c.913A>T (p.Arg305Trp)
c.785A>T (p.Glu262Val)
13g.113148968G>ACA7060638F10c.918G>A (p.Glu306=)
c.908G>A (p.Arg303Lys)
c.914G>A (p.Arg305Lys)
c.786G>A (p.Glu262=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113148968G>CCA388791873F10c.918G>C (p.Glu306Asp)
c.908G>C (p.Arg303Thr)
c.914G>C (p.Arg305Thr)
c.786G>C (p.Glu262Asp)
13g.113148968G=CA2120139911F10c.918G= (p.Glu306=)
c.908G= (p.Arg303=)
c.914G= (p.Arg305=)
c.786G= (p.Glu262=)
13g.113148968G>TCA388791876F10c.918G>T (p.Glu306Asp)
c.908G>T (p.Arg303Met)
c.914G>T (p.Arg305Met)
c.786G>T (p.Glu262Asp)
 gnomAD v4
13g.113148969G>ACA388791879F10c.919G>A (p.Val307Met)
c.909G>A (p.Arg303=)
c.915G>A (p.Arg305=)
c.787G>A (p.Val263Met)
 gnomAD v4
13g.113148969G>CCA388791882F10c.919G>C (p.Val307Leu)
c.909G>C (p.Arg303Ser)
c.915G>C (p.Arg305Ser)
c.787G>C (p.Val263Leu)
13g.113148969G>TCA388791889F10c.919G>T (p.Val307Leu)
c.909G>T (p.Arg303Ser)
c.915G>T (p.Arg305Ser)
c.787G>T (p.Val263Leu)
13g.113148970T>ACA388791898F10c.920T>A (p.Val307Glu)
c.910T>A (p.Trp304Arg)
c.916T>A (p.Trp306Arg)
c.788T>A (p.Val263Glu)
13g.113148970T>CCA388791893F10c.920T>C (p.Val307Ala)
c.910T>C (p.Trp304Arg)
c.916T>C (p.Trp306Arg)
c.788T>C (p.Val263Ala)
13g.113148970T>GCA388791896F10c.920T>G (p.Val307Gly)
c.910T>G (p.Trp304Gly)
c.916T>G (p.Trp306Gly)
c.788T>G (p.Val263Gly)
 dbSNP
13g.113148970T=CA2120139914F10c.920T= (p.Val307=)
c.910T= (p.Trp304=)
c.916T= (p.Trp306=)
c.788T= (p.Val263=)
13g.113148971G>ACA7060639F10c.921G>A (p.Val307=)
c.911G>A (p.Trp304Ter)
c.917G>A (p.Trp306Ter)
c.789G>A (p.Val263=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113148971G>CCA388791903F10c.921G>C (p.Val307=)
c.911G>C (p.Trp304Ser)
c.917G>C (p.Trp306Ser)
c.789G>C (p.Val263=)
13g.113148971G=CA2120139917F10c.921G= (p.Val307=)
c.911G= (p.Trp304=)
c.917G= (p.Trp306=)
c.789G= (p.Val263=)
13g.113148971G>TCA388791906F10c.921G>T (p.Val307=)
c.911G>T (p.Trp304Leu)
c.917G>T (p.Trp306Leu)
c.789G>T (p.Val263=)
13g.113148972G>ACA388791908F10c.922G>A (p.Val308Ile)
c.912G>A (p.Trp304Ter)
c.918G>A (p.Trp306Ter)
c.790G>A (p.Val264Ile)
13g.113148972G>CCA388791911F10c.922G>C (p.Val308Leu)
c.912G>C (p.Trp304Cys)
c.918G>C (p.Trp306Cys)
c.790G>C (p.Val264Leu)
13g.113148972G>TCA388791912F10c.922G>T (p.Val308Phe)
c.912G>T (p.Trp304Cys)
c.918G>T (p.Trp306Cys)
c.790G>T (p.Val264Phe)
13g.113148973T>ACA388791913F10c.923T>A (p.Val308Asp)
c.913T>A (p.Ser305Thr)
c.919T>A (p.Ser307Thr)
c.791T>A (p.Val264Asp)
13g.113148973T>CCA388791914F10c.923T>C (p.Val308Ala)
c.913T>C (p.Ser305Pro)
c.919T>C (p.Ser307Pro)
c.791T>C (p.Val264Ala)
13g.113148973T>GCA388791915F10c.923T>G (p.Val308Gly)
c.913T>G (p.Ser305Ala)
c.919T>G (p.Ser307Ala)
c.791T>G (p.Val264Gly)
13g.113148976_113148978delCA2695219009F10c.926_928del (p.Ile309del)
c.916_918del (p.Ser306del)
c.922_924del (p.Ser308del)
c.794_796del (p.Ile265del)
13g.113148974C>ACA388791918F10c.924C>A (p.Val308=)
c.914C>A (p.Ser305Ter)
c.920C>A (p.Ser307Ter)
c.792C>A (p.Val264=)
13g.113148974C=CA2120139920F10c.924C= (p.Val308=)
c.914C= (p.Ser305=)
c.920C= (p.Ser307=)
c.792C= (p.Val264=)
13g.113148974C>GCA388791920F10c.924C>G (p.Val308=)
c.914C>G (p.Ser305Ter)
c.920C>G (p.Ser307Ter)
c.792C>G (p.Val264=)
13g.113148974C>TCA7060640F10c.924C>T (p.Val308=)
c.914C>T (p.Ser305Leu)
c.920C>T (p.Ser307Leu)
c.792C>T (p.Val264=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113148975A>CCA388791924F10c.925A>C (p.Ile309Leu)
c.915A>C (p.Ser305=)
c.921A>C (p.Ser307=)
c.793A>C (p.Ile265Leu)
13g.113148975A>GCA388791926F10c.925A>G (p.Ile309Val)
c.915A>G (p.Ser305=)
c.921A>G (p.Ser307=)
c.793A>G (p.Ile265Val)
13g.113148975A>TCA388791923F10c.925A>T (p.Ile309Phe)
c.915A>T (p.Ser305=)
c.921A>T (p.Ser307=)
c.793A>T (p.Ile265Phe)
13g.113148976T>ACA388791930F10c.926T>A (p.Ile309Asn)
c.916T>A (p.Ser306Thr)
c.922T>A (p.Ser308Thr)
c.794T>A (p.Ile265Asn)
13g.113148976T>CCA388791931F10c.926T>C (p.Ile309Thr)
c.916T>C (p.Ser306Pro)
c.922T>C (p.Ser308Pro)
c.794T>C (p.Ile265Thr)
 dbSNP gnomAD v2 gnomAD v4
13g.113148976T>GCA388791933F10c.926T>G (p.Ile309Ser)
c.916T>G (p.Ser306Ala)
c.922T>G (p.Ser308Ala)
c.794T>G (p.Ile265Ser)
13g.113148976T=CA2120139924F10c.926T= (p.Ile309=)
c.916T= (p.Ser306=)
c.922T= (p.Ser308=)
c.794T= (p.Ile265=)
13g.113148977C>ACA388791935F10c.927C>A (p.Ile309=)
c.917C>A (p.Ser306Ter)
c.923C>A (p.Ser308Ter)
c.795C>A (p.Ile265=)
13g.113148977C>GCA388791937F10c.927C>G (p.Ile309Met)
c.917C>G (p.Ser306Ter)
c.923C>G (p.Ser308Ter)
c.795C>G (p.Ile265Met)
13g.113148977C>TCA388791940F10c.927C>T (p.Ile309=)
c.917C>T (p.Ser306Leu)
c.923C>T (p.Ser308Leu)
c.795C>T (p.Ile265=)
 gnomAD v4
13g.113148978A>CCA388791948F10c.928A>C (p.Lys310Gln)
c.918A>C (p.Ser306=)
c.924A>C (p.Ser308=)
c.796A>C (p.Lys266Gln)
13g.113148978A>GCA388791944F10c.928A>G (p.Lys310Glu)
c.918A>G (p.Ser306=)
c.924A>G (p.Ser308=)
c.796A>G (p.Lys266Glu)
13g.113148978A>TCA388791946F10c.928A>T (p.Lys310Ter)
c.918A>T (p.Ser306=)
c.924A>T (p.Ser308=)
c.796A>T (p.Lys266Ter)
13g.113148979A=CA2120139929F10c.929A= (p.Lys310=)
c.919A= (p.Ser307=)
c.925A= (p.Ser309=)
c.797A= (p.Lys266=)
13g.113148979A>CCA388791951F10c.929A>C (p.Lys310Thr)
c.919A>C (p.Ser307Arg)
c.925A>C (p.Ser309Arg)
c.797A>C (p.Lys266Thr)
13g.113148979A>GCA7060641F10c.929A>G (p.Lys310Arg)
c.919A>G (p.Ser307Gly)
c.925A>G (p.Ser309Gly)
c.797A>G (p.Lys266Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113148979A>TCA388791955F10c.929A>T (p.Lys310Met)
c.919A>T (p.Ser307Cys)
c.925A>T (p.Ser309Cys)
c.797A>T (p.Lys266Met)
13g.113148980G>ACA388791958F10c.930G>A (p.Lys310=)
c.920G>A (p.Ser307Asn)
c.926G>A (p.Ser309Asn)
c.798G>A (p.Lys266=)
 gnomAD v4
13g.113148980G>CCA388791961F10c.930G>C (p.Lys310Asn)
c.920G>C (p.Ser307Thr)
c.926G>C (p.Ser309Thr)
c.798G>C (p.Lys266Asn)
13g.113148980G>TCA388791963F10c.930G>T (p.Lys310Asn)
c.920G>T (p.Ser307Ile)
c.926G>T (p.Ser309Ile)
c.798G>T (p.Lys266Asn)
13g.113148980_113148984delinsGCACACA2120139934F10c.930_934delinsGCACA (p.Lys310=)
c.920_924delinsGCACA (p.Ser307=)
c.926_930delinsGCACA (p.Ser309=)
c.798_802delinsGCACA (p.Lys266=)
13g.113148981C>ACA388791966F10c.931C>A (p.His311Asn)
c.921C>A (p.Ser307Arg)
c.927C>A (p.Ser309Arg)
c.799C>A (p.His267Asn)
13g.113148981C>GCA388791971F10c.931C>G (p.His311Asp)
c.921C>G (p.Ser307Arg)
c.927C>G (p.Ser309Arg)
c.799C>G (p.His267Asp)
13g.113148981C>TCA388791968F10c.931C>T (p.His311Tyr)
c.921C>T (p.Ser307=)
c.927C>T (p.Ser309=)
c.799C>T (p.His267Tyr)
13g.113148981_113148984delCA612693661F10c.931_934del (p.His311ThrfsTer25)
c.921_924del (p.Ser307ArgfsTer9)
c.927_930del (p.Ser309ArgfsTer9)
c.799_802del (p.His267ThrfsTer25)
 dbSNP gnomAD v2
13g.113148982A>CCA388791974F10c.932A>C (p.His311Pro)
c.922A>C (p.Thr308Pro)
c.928A>C (p.Thr310Pro)
c.800A>C (p.His267Pro)
13g.113148982A>GCA388791976F10c.932A>G (p.His311Arg)
c.922A>G (p.Thr308Ala)
c.928A>G (p.Thr310Ala)
c.800A>G (p.His267Arg)
13g.113148982A>TCA388791978F10c.932A>T (p.His311Leu)
c.922A>T (p.Thr308Ser)
c.928A>T (p.Thr310Ser)
c.800A>T (p.His267Leu)
13g.113148983C>ACA388791981F10c.933C>A (p.His311Gln)
c.923C>A (p.Thr308Lys)
c.929C>A (p.Thr310Lys)
c.801C>A (p.His267Gln)
13g.113148983C>GCA388791984F10c.933C>G (p.His311Gln)
c.923C>G (p.Thr308Arg)
c.929C>G (p.Thr310Arg)
c.801C>G (p.His267Gln)
13g.113148983C>TCA388791994F10c.933C>T (p.His311=)
c.923C>T (p.Thr308Ile)
c.929C>T (p.Thr310Ile)
c.801C>T (p.His267=)
13g.113148984A>CCA388791998F10c.934A>C (p.Asn312His)
c.924A>C (p.Thr308=)
c.930A>C (p.Thr310=)
c.802A>C (p.Asn268His)
13g.113148984A>GCA388792013F10c.934A>G (p.Asn312Asp)
c.924A>G (p.Thr308=)
c.930A>G (p.Thr310=)
c.802A>G (p.Asn268Asp)
13g.113148984A>TCA388792016F10c.934A>T (p.Asn312Tyr)
c.924A>T (p.Thr308=)
c.930A>T (p.Thr310=)
c.802A>T (p.Asn268Tyr)
13g.113148985A>CCA388792028F10c.935A>C (p.Asn312Thr)
c.925A>C (p.Thr309Pro)
c.931A>C (p.Thr311Pro)
c.803A>C (p.Asn268Thr)
 gnomAD v4
13g.113148985A>GCA388792037F10c.935A>G (p.Asn312Ser)
c.925A>G (p.Thr309Ala)
c.931A>G (p.Thr311Ala)
c.803A>G (p.Asn268Ser)
13g.113148985A>TCA388792040F10c.935A>T (p.Asn312Ile)
c.925A>T (p.Thr309Ser)
c.931A>T (p.Thr311Ser)
c.803A>T (p.Asn268Ile)
13g.113148986C>ACA388792043F10c.936C>A (p.Asn312Lys)
c.926C>A (p.Thr309Asn)
c.932C>A (p.Thr311Asn)
c.804C>A (p.Asn268Lys)
 gnomAD v4
13g.113148986C>GCA388792055F10c.936C>G (p.Asn312Lys)
c.926C>G (p.Thr309Ser)
c.932C>G (p.Thr311Ser)
c.804C>G (p.Asn268Lys)
13g.113148986C>TCA388792045F10c.936C>T (p.Asn312=)
c.926C>T (p.Thr309Ile)
c.932C>T (p.Thr311Ile)
c.804C>T (p.Asn268=)
13g.113148987C>ACA485038492F10c.937C>A (p.Arg313=)
c.927C>A (p.Thr309=)
c.933C>A (p.Thr311=)
c.805C>A (p.Arg269=)
 dbSNP gnomAD v2 gnomAD v4
13g.113148987C=CA2120139937F10c.937C= (p.Arg313=)
c.927C= (p.Thr309=)
c.933C= (p.Thr311=)
c.805C= (p.Arg269=)
13g.113148987C>GCA388792058F10c.937C>G (p.Arg313Gly)
c.927C>G (p.Thr309=)
c.933C>G (p.Thr311=)
c.805C>G (p.Arg269Gly)
13g.113148987C>TCA7060642F10c.937C>T (p.Arg313Trp)
c.927C>T (p.Thr309=)
c.933C>T (p.Thr311=)
c.805C>T (p.Arg269Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113148988G>ACA7060643F10c.938G>A (p.Arg313Gln)
c.928G>A (p.Gly310Ser)
c.934G>A (p.Gly312Ser)
c.806G>A (p.Arg269Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
13g.113148988G>CCA388792070F10c.938G>C (p.Arg313Pro)
c.928G>C (p.Gly310Arg)
c.934G>C (p.Gly312Arg)
c.806G>C (p.Arg269Pro)
13g.113148988G=CA2120139940F10c.938G= (p.Arg313=)
c.928G= (p.Gly310=)
c.934G= (p.Gly312=)
c.806G= (p.Arg269=)
13g.113148988G>TCA388792073F10c.938G>T (p.Arg313Leu)
c.928G>T (p.Gly310Cys)
c.934G>T (p.Gly312Cys)
c.806G>T (p.Arg269Leu)
13g.113148989G>ACA388792085F10c.939G>A (p.Arg313=)
c.929G>A (p.Gly310Asp)
c.935G>A (p.Gly312Asp)
c.807G>A (p.Arg269=)
 gnomAD v4
13g.113148989G>CCA388792081F10c.939G>C (p.Arg313=)
c.929G>C (p.Gly310Ala)
c.935G>C (p.Gly312Ala)
c.807G>C (p.Arg269=)
13g.113148989G=CA2120139942F10c.939G= (p.Arg313=)
c.929G= (p.Gly310=)
c.935G= (p.Gly312=)
c.807G= (p.Arg269=)
13g.113148989G>TCA388792078F10c.939G>T (p.Arg313=)
c.929G>T (p.Gly310Val)
c.935G>T (p.Gly312Val)
c.807G>T (p.Arg269=)
 dbSNP
13g.113148990T>ACA388792091F10c.940T>A (p.Phe314Ile)
c.930T>A (p.Gly310=)
c.936T>A (p.Gly312=)
c.808T>A (p.Phe270Ile)
13g.113148990T>CCA388792092F10c.940T>C (p.Phe314Leu)
c.930T>C (p.Gly310=)
c.936T>C (p.Gly312=)
c.808T>C (p.Phe270Leu)
13g.113148990T>GCA388792093F10c.940T>G (p.Phe314Val)
c.930T>G (p.Gly310=)
c.936T>G (p.Gly312=)
c.808T>G (p.Phe270Val)
13g.113148991T>ACA388792094F10c.941T>A (p.Phe314Tyr)
c.931T>A (p.Ser311Thr)
c.937T>A (p.Ser313Thr)
c.809T>A (p.Phe270Tyr)
13g.113148991T>CCA388792095F10c.941T>C (p.Phe314Ser)
c.931T>C (p.Ser311Pro)
c.937T>C (p.Ser313Pro)
c.809T>C (p.Phe270Ser)
13g.113148991T>GCA388792096F10c.941T>G (p.Phe314Cys)
c.931T>G (p.Ser311Ala)
c.937T>G (p.Ser313Ala)
c.809T>G (p.Phe270Cys)
13g.113148992C>ACA388792099F10c.942C>A (p.Phe314Leu)
c.932C>A (p.Ser311Ter)
c.938C>A (p.Ser313Ter)
c.810C>A (p.Phe270Leu)
13g.113148992C>GCA388792105F10c.942C>G (p.Phe314Leu)
c.932C>G (p.Ser311Ter)
c.938C>G (p.Ser313Ter)
c.810C>G (p.Phe270Leu)
13g.113148992C>TCA388792102F10c.942C>T (p.Phe314=)
c.932C>T (p.Ser311Leu)
c.938C>T (p.Ser313Leu)
c.810C>T (p.Phe270=)
13g.113148993A>CCA388792110F10c.943A>C (p.Thr315Pro)
c.933A>C (p.Ser311=)
c.939A>C (p.Ser313=)
c.811A>C (p.Thr271Pro)
13g.113148993A>GCA388792112F10c.943A>G (p.Thr315Ala)
c.933A>G (p.Ser311=)
c.939A>G (p.Ser313=)
c.811A>G (p.Thr271Ala)
13g.113148993A>TCA388792115F10c.943A>T (p.Thr315Ser)
c.933A>T (p.Ser311=)
c.939A>T (p.Ser313=)
c.811A>T (p.Thr271Ser)
13g.113148994C>ACA388792119F10c.944C>A (p.Thr315Lys)
c.934C>A (p.Gln312Lys)
c.940C>A (p.Gln314Lys)
c.812C>A (p.Thr271Lys)
13g.113148994C=CA2120139945F10c.944C= (p.Thr315=)
c.934C= (p.Gln312=)
c.940C= (p.Gln314=)
c.812C= (p.Thr271=)
13g.113148994C>GCA388792123F10c.944C>G (p.Thr315Arg)
c.934C>G (p.Gln312Glu)
c.940C>G (p.Gln314Glu)
c.812C>G (p.Thr271Arg)
13g.113148994C>TCA7060644F10c.944C>T (p.Thr315Ile)
c.934C>T (p.Gln312Ter)
c.940C>T (p.Gln314Ter)
c.812C>T (p.Thr271Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113148995A>CCA388792127F10c.945A>C (p.Thr315=)
c.935A>C (p.Gln312Pro)
c.941A>C (p.Gln314Pro)
c.813A>C (p.Thr271=)
13g.113148995A>GCA388792130F10c.945A>G (p.Thr315=)
c.935A>G (p.Gln312Arg)
c.941A>G (p.Gln314Arg)
c.813A>G (p.Thr271=)
13g.113148995A>TCA388792131F10c.945A>T (p.Thr315=)
c.935A>T (p.Gln312Leu)
c.941A>T (p.Gln314Leu)
c.813A>T (p.Thr271=)
13g.113148996A>CCA388792133F10c.946A>C (p.Lys316Gln)
c.936A>C (p.Gln312His)
c.942A>C (p.Gln314His)
c.814A>C (p.Lys272Gln)
13g.113148996A>GCA388792135F10c.946A>G (p.Lys316Glu)
c.936A>G (p.Gln312=)
c.942A>G (p.Gln314=)
c.814A>G (p.Lys272Glu)
13g.113148996A>TCA388792142F10c.946A>T (p.Lys316Ter)
c.936A>T (p.Gln312His)
c.942A>T (p.Gln314His)
c.814A>T (p.Lys272Ter)
13g.113148997A=CA2120139949F10c.947A= (p.Lys316=)
c.937A= (p.Arg313=)
c.943A= (p.Arg315=)
c.815A= (p.Lys272=)
13g.113148997A>CCA388792144F10c.947A>C (p.Lys316Thr)
c.937A>C (p.Arg313=)
c.943A>C (p.Arg315=)
c.815A>C (p.Lys272Thr)
13g.113148997A>GCA7060645F10c.947A>G (p.Lys316Arg)
c.937A>G (p.Arg313Gly)
c.943A>G (p.Arg315Gly)
c.815A>G (p.Lys272Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113148997A>TCA388792143F10c.947A>T (p.Lys316Met)
c.937A>T (p.Arg313Trp)
c.943A>T (p.Arg315Trp)
c.815A>T (p.Lys272Met)
13g.113148998G>ACA388792150F10c.948G>A (p.Lys316=)
c.938G>A (p.Arg313Lys)
c.944G>A (p.Arg315Lys)
c.816G>A (p.Lys272=)
13g.113148998G>CCA388792148F10c.948G>C (p.Lys316Asn)
c.938G>C (p.Arg313Thr)
c.944G>C (p.Arg315Thr)
c.816G>C (p.Lys272Asn)
 gnomAD v4
13g.113148998G>TCA388792152F10c.948G>T (p.Lys316Asn)
c.938G>T (p.Arg313Met)
c.944G>T (p.Arg315Met)
c.816G>T (p.Lys272Asn)
13g.113148999G>ACA388792154F10c.949G>A (p.Glu317Lys)
c.939G>A (p.Arg313=)
c.945G>A (p.Arg315=)
c.817G>A (p.Glu273Lys)
 COSMIC
13g.113148999G>CCA388792157F10c.949G>C (p.Glu317Gln)
c.939G>C (p.Arg313Ser)
c.945G>C (p.Arg315Ser)
c.817G>C (p.Glu273Gln)
13g.113148999G>TCA388792156F10c.949G>T (p.Glu317Ter)
c.939G>T (p.Arg313Ser)
c.945G>T (p.Arg315Ser)
c.817G>T (p.Glu273Ter)
13g.113149000A>CCA388792158F10c.950A>C (p.Glu317Ala)
c.940A>C (p.Arg314=)
c.946A>C (p.Arg316=)
c.818A>C (p.Glu273Ala)
13g.113149000A>GCA388792160F10c.950A>G (p.Glu317Gly)
c.940A>G (p.Arg314Gly)
c.946A>G (p.Arg316Gly)
c.818A>G (p.Glu273Gly)
13g.113149000A>TCA388792159F10c.950A>T (p.Glu317Val)
c.940A>T (p.Arg314Ter)
c.946A>T (p.Arg316Ter)
c.818A>T (p.Glu273Val)
13g.113149001G>ACA388792161F10c.951G>A (p.Glu317=)
c.941G>A (p.Arg314Lys)
c.947G>A (p.Arg316Lys)
c.819G>A (p.Glu273=)
13g.113149001G>CCA388792164F10c.951G>C (p.Glu317Asp)
c.941G>C (p.Arg314Thr)
c.947G>C (p.Arg316Thr)
c.819G>C (p.Glu273Asp)
13g.113149001G>TCA388792163F10c.951G>T (p.Glu317Asp)
c.941G>T (p.Arg314Ile)
c.947G>T (p.Arg316Ile)
c.819G>T (p.Glu273Asp)
 gnomAD v4
13g.113149002A>CCA388792166F10c.952A>C (p.Thr318Pro)
c.942A>C (p.Arg314Ser)
c.948A>C (p.Arg316Ser)
c.820A>C (p.Thr274Pro)
13g.113149002A>GCA388792171F10c.952A>G (p.Thr318Ala)
c.942A>G (p.Arg314=)
c.948A>G (p.Arg316=)
c.820A>G (p.Thr274Ala)
13g.113149002A>TCA388792168F10c.952A>T (p.Thr318Ser)
c.942A>T (p.Arg314Ser)
c.948A>T (p.Arg316Ser)
c.820A>T (p.Thr274Ser)
13g.113149003C>ACA388792173F10c.953C>A (p.Thr318Asn)
c.943C>A (p.Pro315Thr)
c.949C>A (p.Pro317Thr)
c.821C>A (p.Thr274Asn)
13g.113149003C>GCA388792175F10c.953C>G (p.Thr318Ser)
c.943C>G (p.Pro315Ala)
c.949C>G (p.Pro317Ala)
c.821C>G (p.Thr274Ser)
 gnomAD v4
13g.113149003C>TCA388792178F10c.953C>T (p.Thr318Ile)
c.943C>T (p.Pro315Ser)
c.949C>T (p.Pro317Ser)
c.821C>T (p.Thr274Ile)
13g.113149004C>ACA388792180F10c.954C>A (p.Thr318=)
c.944C>A (p.Pro315His)
c.950C>A (p.Pro317His)
c.822C>A (p.Thr274=)
13g.113149004C>GCA388792184F10c.954C>G (p.Thr318=)
c.944C>G (p.Pro315Arg)
c.950C>G (p.Pro317Arg)
c.822C>G (p.Thr274=)
13g.113149004C>TCA388792187F10c.954C>T (p.Thr318=)
c.944C>T (p.Pro315Leu)
c.950C>T (p.Pro317Leu)
c.822C>T (p.Thr274=)
13g.113149005T>ACA388792190F10c.955T>A (p.Tyr319Asn)
c.945T>A (p.Pro315=)
c.951T>A (p.Pro317=)
c.823T>A (p.Tyr275Asn)
13g.113149005T>CCA256478651F10c.955T>C (p.Tyr319His)
c.945T>C (p.Pro315=)
c.951T>C (p.Pro317=)
c.823T>C (p.Tyr275His)
 dbSNP gnomAD v3 gnomAD v4
13g.113149005T>GCA388792193F10c.955T>G (p.Tyr319Asp)
c.945T>G (p.Pro315=)
c.951T>G (p.Pro317=)
c.823T>G (p.Tyr275Asp)
 gnomAD v4
13g.113149005T=CA2120139958F10c.955T= (p.Tyr319=)
c.945T= (p.Pro315=)
c.951T= (p.Pro317=)
c.823T= (p.Tyr275=)
13g.113149006A>CCA388792194F10c.956A>C (p.Tyr319Ser)
c.946A>C (p.Met316Leu)
c.952A>C (p.Met318Leu)
c.824A>C (p.Tyr275Ser)
13g.113149006A>GCA388792195F10c.956A>G (p.Tyr319Cys)
c.946A>G (p.Met316Val)
c.952A>G (p.Met318Val)
c.824A>G (p.Tyr275Cys)
13g.113149006A>TCA388792196F10c.956A>T (p.Tyr319Phe)
c.946A>T (p.Met316Leu)
c.952A>T (p.Met318Leu)
c.824A>T (p.Tyr275Phe)
13g.113149007T>ACA388792202F10c.957T>A (p.Tyr319Ter)
c.947T>A (p.Met316Lys)
c.953T>A (p.Met318Lys)
c.825T>A (p.Tyr275Ter)
13g.113149007T>CCA7060646F10c.957T>C (p.Tyr319=)
c.947T>C (p.Met316Thr)
c.953T>C (p.Met318Thr)
c.825T>C (p.Tyr275=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149007T>GCA388792197F10c.957T>G (p.Tyr319Ter)
c.947T>G (p.Met316Arg)
c.953T>G (p.Met318Arg)
c.825T>G (p.Tyr275Ter)
13g.113149007T=CA2120139963F10c.957T= (p.Tyr319=)
c.947T= (p.Met316=)
c.953T= (p.Met318=)
c.825T= (p.Tyr275=)
13g.113149008G>ACA388792205F10c.958G>A (p.Asp320Asn)
c.948G>A (p.Met316Ile)
c.954G>A (p.Met318Ile)
c.826G>A (p.Asp276Asn)
 dbSNP
13g.113149008G>CCA7060647F10c.958G>C (p.Asp320His)
c.948G>C (p.Met316Ile)
c.954G>C (p.Met318Ile)
c.826G>C (p.Asp276His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149008G=CA2120139967F10c.958G= (p.Asp320=)
c.948G= (p.Met316=)
c.954G= (p.Met318=)
c.826G= (p.Asp276=)
13g.113149008G>TCA388792208F10c.958G>T (p.Asp320Tyr)
c.948G>T (p.Met316Ile)
c.954G>T (p.Met318Ile)
c.826G>T (p.Asp276Tyr)
13g.113149009A>CCA388792211F10c.959A>C (p.Asp320Ala)
c.949A>C (p.Thr317Pro)
c.955A>C (p.Thr319Pro)
c.827A>C (p.Asp276Ala)
13g.113149009A>GCA388792214F10c.959A>G (p.Asp320Gly)
c.949A>G (p.Thr317Ala)
c.955A>G (p.Thr319Ala)
c.827A>G (p.Asp276Gly)
13g.113149009A>TCA388792217F10c.959A>T (p.Asp320Val)
c.949A>T (p.Thr317Ser)
c.955A>T (p.Thr319Ser)
c.827A>T (p.Asp276Val)
13g.113149010C>ACA388792224F10c.960C>A (p.Asp320Glu)
c.950C>A (p.Thr317Asn)
c.956C>A (p.Thr319Asn)
c.828C>A (p.Asp276Glu)
13g.113149010C=CA2120139975F10c.960C= (p.Asp320=)
c.950C= (p.Thr317=)
c.956C= (p.Thr319=)
c.828C= (p.Asp276=)
13g.113149010C>GCA388792226F10c.960C>G (p.Asp320Glu)
c.950C>G (p.Thr317Ser)
c.956C>G (p.Thr319Ser)
c.828C>G (p.Asp276Glu)
13g.113149010C>TCA7060648F10c.960C>T (p.Asp320=)
c.950C>T (p.Thr317Ile)
c.956C>T (p.Thr319Ile)
c.828C>T (p.Asp276=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149011_113149021delCA2575514503F10c.961_971del (p.Phe321ArgfsTer23)
c.951_961del (p.Ser318ValfsTer?)
c.957_967del (p.Ser320ValfsTer?)
c.829_839del (p.Phe277ArgfsTer23)
 gnomAD v4
13g.113149011T>ACA7060649F10c.961T>A (p.Phe321Ile)
c.951T>A (p.Thr317=)
c.957T>A (p.Thr319=)
c.829T>A (p.Phe277Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149011T>CCA388792237F10c.961T>C (p.Phe321Leu)
c.951T>C (p.Thr317=)
c.957T>C (p.Thr319=)
c.829T>C (p.Phe277Leu)
 dbSNP
13g.113149011T>GCA388792238F10c.961T>G (p.Phe321Val)
c.951T>G (p.Thr317=)
c.957T>G (p.Thr319=)
c.829T>G (p.Phe277Val)
13g.113149011T=CA2120139981F10c.961T= (p.Phe321=)
c.951T= (p.Thr317=)
c.957T= (p.Thr319=)
c.829T= (p.Phe277=)
13g.113149012T>ACA388792240F10c.962T>A (p.Phe321Tyr)
c.952T>A (p.Ser318Thr)
c.958T>A (p.Ser320Thr)
c.830T>A (p.Phe277Tyr)
13g.113149012T>CCA388792245F10c.962T>C (p.Phe321Ser)
c.952T>C (p.Ser318Pro)
c.958T>C (p.Ser320Pro)
c.830T>C (p.Phe277Ser)
13g.113149012T>GCA388792243F10c.962T>G (p.Phe321Cys)
c.952T>G (p.Ser318Ala)
c.958T>G (p.Ser320Ala)
c.830T>G (p.Phe277Cys)
13g.113149013C>ACA388792248F10c.963C>A (p.Phe321Leu)
c.953C>A (p.Ser318Ter)
c.959C>A (p.Ser320Ter)
c.831C>A (p.Phe277Leu)
 gnomAD v4
13g.113149013C=CA2120139987F10c.963C= (p.Phe321=)
c.953C= (p.Ser318=)
c.959C= (p.Ser320=)
c.831C= (p.Phe277=)
13g.113149013C>GCA388792251F10c.963C>G (p.Phe321Leu)
c.953C>G (p.Ser318Trp)
c.959C>G (p.Ser320Trp)
c.831C>G (p.Phe277Leu)
13g.113149013C>TCA7060650F10c.963C>T (p.Phe321=)
c.953C>T (p.Ser318Leu)
c.959C>T (p.Ser320Leu)
c.831C>T (p.Phe277=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149014G>ACA256478655F10c.964G>A (p.Asp322Asn)
c.954G>A (p.Ser318=)
c.960G>A (p.Ser320=)
c.832G>A (p.Asp278Asn)
 ClinVar dbSNP gnomAD v4
13g.113149014G>CCA388792256F10c.964G>C (p.Asp322His)
c.954G>C (p.Ser318=)
c.960G>C (p.Ser320=)
c.832G>C (p.Asp278His)
 gnomAD v4
13g.113149014G=CA2120139988F10c.964G= (p.Asp322=)
c.954G= (p.Ser318=)
c.960G= (p.Ser320=)
c.832G= (p.Asp278=)
13g.113149014G>TCA388792258F10c.964G>T (p.Asp322Tyr)
c.954G>T (p.Ser318=)
c.960G>T (p.Ser320=)
c.832G>T (p.Asp278Tyr)
13g.113149015A>CCA388792260F10c.965A>C (p.Asp322Ala)
c.955A>C (p.Thr319Pro)
c.961A>C (p.Thr321Pro)
c.833A>C (p.Asp278Ala)
13g.113149015A>GCA388792263F10c.965A>G (p.Asp322Gly)
c.955A>G (p.Thr319Ala)
c.961A>G (p.Thr321Ala)
c.833A>G (p.Asp278Gly)
13g.113149015A>TCA388792265F10c.965A>T (p.Asp322Val)
c.955A>T (p.Thr319Ser)
c.961A>T (p.Thr321Ser)
c.833A>T (p.Asp278Val)
13g.113149016C>ACA7060651F10c.966C>A (p.Asp322Glu)
c.956C>A (p.Thr319Lys)
c.962C>A (p.Thr321Lys)
c.834C>A (p.Asp278Glu)
 dbSNP ExAC gnomAD v2
13g.113149016C=CA2120139990F10c.966C= (p.Asp322=)
c.956C= (p.Thr319=)
c.962C= (p.Thr321=)
c.834C= (p.Asp278=)
13g.113149016C>GCA388792270F10c.966C>G (p.Asp322Glu)
c.956C>G (p.Thr319Arg)
c.962C>G (p.Thr321Arg)
c.834C>G (p.Asp278Glu)
 gnomAD v4
13g.113149016C>TCA388792271F10c.966C>T (p.Asp322=)
c.956C>T (p.Thr319Ile)
c.962C>T (p.Thr321Ile)
c.834C>T (p.Asp278=)
13g.113149017A>CCA388792273F10c.967A>C (p.Ile323Leu)
c.957A>C (p.Thr319=)
c.963A>C (p.Thr321=)
c.835A>C (p.Ile279Leu)
13g.113149017A>GCA388792277F10c.967A>G (p.Ile323Val)
c.957A>G (p.Thr319=)
c.963A>G (p.Thr321=)
c.835A>G (p.Ile279Val)
13g.113149017A>TCA388792275F10c.967A>T (p.Ile323Phe)
c.957A>T (p.Thr319=)
c.963A>T (p.Thr321=)
c.835A>T (p.Ile279Phe)
13g.113149018T>ACA388792279F10c.968T>A (p.Ile323Asn)
c.958T>A (p.Ser320Thr)
c.964T>A (p.Ser322Thr)
c.836T>A (p.Ile279Asn)
13g.113149018T>CCA388792282F10c.968T>C (p.Ile323Thr)
c.958T>C (p.Ser320Pro)
c.964T>C (p.Ser322Pro)
c.836T>C (p.Ile279Thr)
13g.113149018T>GCA388792285F10c.968T>G (p.Ile323Ser)
c.958T>G (p.Ser320Ala)
c.964T>G (p.Ser322Ala)
c.836T>G (p.Ile279Ser)
13g.113149019C>ACA388792288F10c.969C>A (p.Ile323=)
c.959C>A (p.Ser320Ter)
c.965C>A (p.Ser322Ter)
c.837C>A (p.Ile279=)
13g.113149019C=CA2120139995F10c.969C= (p.Ile323=)
c.959C= (p.Ser320=)
c.965C= (p.Ser322=)
c.837C= (p.Ile279=)
13g.113149019C>GCA388792290F10c.969C>G (p.Ile323Met)
c.959C>G (p.Ser320Trp)
c.965C>G (p.Ser322Trp)
c.837C>G (p.Ile279Met)
 COSMIC
13g.113149019C>TCA388792292F10c.969C>T (p.Ile323=)
c.959C>T (p.Ser320Leu)
c.965C>T (p.Ser322Leu)
c.837C>T (p.Ile279=)
 dbSNP gnomAD v2 gnomAD v4
13g.113149020G>ACA388792299F10c.970G>A (p.Ala324Thr)
c.960G>A (p.Ser320=)
c.966G>A (p.Ser322=)
c.838G>A (p.Ala280Thr)
 dbSNP gnomAD v2 gnomAD v4
13g.113149020G>CCA388792302F10c.970G>C (p.Ala324Pro)
c.960G>C (p.Ser320=)
c.966G>C (p.Ser322=)
c.838G>C (p.Ala280Pro)
 dbSNP gnomAD v4
13g.113149020G=CA2120139997F10c.970G= (p.Ala324=)
c.960G= (p.Ser320=)
c.966G= (p.Ser322=)
c.838G= (p.Ala280=)
13g.113149020G>TCA388792305F10c.970G>T (p.Ala324Ser)
c.960G>T (p.Ser320=)
c.966G>T (p.Ser322=)
c.838G>T (p.Ala280Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113149021C>ACA388792311F10c.971C>A (p.Ala324Asp)
c.961C>A (p.Pro321Thr)
c.967C>A (p.Pro323Thr)
c.839C>A (p.Ala280Asp)
13g.113149021C>GCA388792313F10c.971C>G (p.Ala324Gly)
c.961C>G (p.Pro321Ala)
c.967C>G (p.Pro323Ala)
c.839C>G (p.Ala280Gly)
13g.113149021C>TCA388792309F10c.971C>T (p.Ala324Val)
c.961C>T (p.Pro321Ser)
c.967C>T (p.Pro323Ser)
c.839C>T (p.Ala280Val)
13g.113149022C>ACA388792315F10c.972C>A (p.Ala324=)
c.962C>A (p.Pro321Gln)
c.968C>A (p.Pro323Gln)
c.840C>A (p.Ala280=)
13g.113149022C=CA2120140001F10c.972C= (p.Ala324=)
c.962C= (p.Pro321=)
c.968C= (p.Pro323=)
c.840C= (p.Ala280=)
13g.113149022C>GCA7060652F10c.972C>G (p.Ala324=)
c.962C>G (p.Pro321Arg)
c.968C>G (p.Pro323Arg)
c.840C>G (p.Ala280=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149022C>TCA7060653F10c.972C>T (p.Ala324=)
c.962C>T (p.Pro321Leu)
c.968C>T (p.Pro323Leu)
c.840C>T (p.Ala280=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149023G>ACA7060654F10c.973G>A (p.Val325Met)
c.963G>A (p.Pro321=)
c.969G>A (p.Pro323=)
c.841G>A (p.Val281Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149023G>CCA388792319F10c.973G>C (p.Val325Leu)
c.963G>C (p.Pro321=)
c.969G>C (p.Pro323=)
c.841G>C (p.Val281Leu)
 gnomAD v4
13g.113149023G=CA2120140006F10c.973G= (p.Val325=)
c.963G= (p.Pro321=)
c.969G= (p.Pro323=)
c.841G= (p.Val281=)
13g.113149023G>TCA388792320F10c.973G>T (p.Val325Leu)
c.963G>T (p.Pro321=)
c.969G>T (p.Pro323=)
c.841G>T (p.Val281Leu)
13g.113149024T>ACA388792321F10c.974T>A (p.Val325Glu)
c.964T>A (p.Cys322Ser)
c.970T>A (p.Cys324Ser)
c.842T>A (p.Val281Glu)
 gnomAD v4
13g.113149024T>CCA388792322F10c.974T>C (p.Val325Ala)
c.964T>C (p.Cys322Arg)
c.970T>C (p.Cys324Arg)
c.842T>C (p.Val281Ala)
13g.113149024T>GCA388792323F10c.974T>G (p.Val325Gly)
c.964T>G (p.Cys322Gly)
c.970T>G (p.Cys324Gly)
c.842T>G (p.Val281Gly)
13g.113149025G>ACA388792326F10c.975G>A (p.Val325=)
c.965G>A (p.Cys322Tyr)
c.971G>A (p.Cys324Tyr)
c.843G>A (p.Val281=)
13g.113149025G>CCA388792328F10c.975G>C (p.Val325=)
c.965G>C (p.Cys322Ser)
c.971G>C (p.Cys324Ser)
c.843G>C (p.Val281=)
13g.113149025G>TCA388792329F10c.975G>T (p.Val325=)
c.965G>T (p.Cys322Phe)
c.971G>T (p.Cys324Phe)
c.843G>T (p.Val281=)
 gnomAD v4
13g.113149026C>ACA388792334F10c.976C>A (p.Leu326Ile)
c.966C>A (p.Cys322Ter)
c.972C>A (p.Cys324Ter)
c.844C>A (p.Leu282Ile)
13g.113149026C=CA2120140010F10c.976C= (p.Leu326=)
c.966C= (p.Cys322=)
c.972C= (p.Cys324=)
c.844C= (p.Leu282=)
13g.113149026C>GCA7060655F10c.976C>G (p.Leu326Val)
c.966C>G (p.Cys322Trp)
c.972C>G (p.Cys324Trp)
c.844C>G (p.Leu282Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149026C>TCA388792332F10c.976C>T (p.Leu326Phe)
c.966C>T (p.Cys322=)
c.972C>T (p.Cys324=)
c.844C>T (p.Leu282Phe)
 gnomAD v4
13g.113149027T>ACA388792337F10c.977T>A (p.Leu326His)
c.967T>A (p.Ser323Thr)
c.973T>A (p.Ser325Thr)
c.845T>A (p.Leu282His)
13g.113149027T>CCA388792338F10c.977T>C (p.Leu326Pro)
c.967T>C (p.Ser323Pro)
c.973T>C (p.Ser325Pro)
c.845T>C (p.Leu282Pro)
13g.113149027T>GCA388792343F10c.977T>G (p.Leu326Arg)
c.967T>G (p.Ser323Ala)
c.973T>G (p.Ser325Ala)
c.845T>G (p.Leu282Arg)
13g.113149028C>ACA388792345F10c.978C>A (p.Leu326=)
c.968C>A (p.Ser323Tyr)
c.974C>A (p.Ser325Tyr)
c.846C>A (p.Leu282=)
13g.113149028C=CA2120140015F10c.978C= (p.Leu326=)
c.968C= (p.Ser323=)
c.974C= (p.Ser325=)
c.846C= (p.Leu282=)
13g.113149028C>GCA388792347F10c.978C>G (p.Leu326=)
c.968C>G (p.Ser323Cys)
c.974C>G (p.Ser325Cys)
c.846C>G (p.Leu282=)
13g.113149028C>TCA388792349F10c.978C>T (p.Leu326=)
c.968C>T (p.Ser323Phe)
c.974C>T (p.Ser325Phe)
c.846C>T (p.Leu282=)
 gnomAD v4
13g.113149029C>ACA485424050F10c.979C>A (p.Arg327=)
c.969C>A (p.Ser323=)
c.975C>A (p.Ser325=)
c.847C>A (p.Arg283=)
13g.113149029C=CA2120140018F10c.979C= (p.Arg327=)
c.969C= (p.Ser323=)
c.975C= (p.Ser325=)
c.847C= (p.Arg283=)
13g.113149029C>GCA388792352F10c.979C>G (p.Arg327Gly)
c.969C>G (p.Ser323=)
c.975C>G (p.Ser325=)
c.847C>G (p.Arg283Gly)
13g.113149029C>TCA7060656F10c.979C>T (p.Arg327Trp)
c.969C>T (p.Ser323=)
c.975C>T (p.Ser325=)
c.847C>T (p.Arg283Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149029_113149030dupCA612868318F10c.979_980dup (p.Leu328GlyfsTer10)
c.969_970dup (p.Gly324AlafsTer21)
c.975_976dup (p.Gly326AlafsTer21)
c.847_848dup (p.Leu284GlyfsTer10)
 dbSNP gnomAD v2
13g.113149030G>ACA7060657F10c.980G>A (p.Arg327Gln)
c.970G>A (p.Gly324Ser)
c.976G>A (p.Gly326Ser)
c.848G>A (p.Arg283Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149030G>CCA388792357F10c.980G>C (p.Arg327Pro)
c.970G>C (p.Gly324Arg)
c.976G>C (p.Gly326Arg)
c.848G>C (p.Arg283Pro)
13g.113149030G=CA2120140022F10c.980G= (p.Arg327=)
c.970G= (p.Gly324=)
c.976G= (p.Gly326=)
c.848G= (p.Arg283=)
13g.113149030G>TCA388792358F10c.980G>T (p.Arg327Leu)
c.970G>T (p.Gly324Cys)
c.976G>T (p.Gly326Cys)
c.848G>T (p.Arg283Leu)
13g.113149031G>ACA388792361F10c.981G>A (p.Arg327=)
c.971G>A (p.Gly324Asp)
c.977G>A (p.Gly326Asp)
c.849G>A (p.Arg283=)
13g.113149031G>CCA388792363F10c.981G>C (p.Arg327=)
c.971G>C (p.Gly324Ala)
c.977G>C (p.Gly326Ala)
c.849G>C (p.Arg283=)
13g.113149031G>TCA388792364F10c.981G>T (p.Arg327=)
c.971G>T (p.Gly324Val)
c.977G>T (p.Gly326Val)
c.849G>T (p.Arg283=)
13g.113149032C>ACA388792367F10c.982C>A (p.Leu328Ile)
c.972C>A (p.Gly324=)
c.978C>A (p.Gly326=)
c.850C>A (p.Leu284Ile)
13g.113149032C>GCA388792370F10c.982C>G (p.Leu328Val)
c.972C>G (p.Gly324=)
c.978C>G (p.Gly326=)
c.850C>G (p.Leu284Val)
13g.113149032C>TCA388792366F10c.982C>T (p.Leu328Phe)
c.972C>T (p.Gly324=)
c.978C>T (p.Gly326=)
c.850C>T (p.Leu284Phe)
13g.113149033T>ACA388792373F10c.983T>A (p.Leu328His)
c.973T>A (p.Ser325Thr)
c.979T>A (p.Ser327Thr)
c.851T>A (p.Leu284His)
13g.113149033T>CCA388792375F10c.983T>C (p.Leu328Pro)
c.973T>C (p.Ser325Pro)
c.979T>C (p.Ser327Pro)
c.851T>C (p.Leu284Pro)
13g.113149033T>GCA388792377F10c.983T>G (p.Leu328Arg)
c.973T>G (p.Ser325Ala)
c.979T>G (p.Ser327Ala)
c.851T>G (p.Leu284Arg)
13g.113149034C>ACA388792383F10c.984C>A (p.Leu328=)
c.974C>A (p.Ser325Ter)
c.980C>A (p.Ser327Ter)
c.852C>A (p.Leu284=)
13g.113149034C=CA2120140026F10c.984C= (p.Leu328=)
c.974C= (p.Ser325=)
c.980C= (p.Ser327=)
c.852C= (p.Leu284=)
13g.113149034C>GCA388792385F10c.984C>G (p.Leu328=)
c.974C>G (p.Ser325Ter)
c.980C>G (p.Ser327Ter)
c.852C>G (p.Leu284=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113149034C>TCA388792394F10c.984C>T (p.Leu328=)
c.974C>T (p.Ser325Leu)
c.980C>T (p.Ser327Leu)
c.852C>T (p.Leu284=)
13g.113149036_113149044delCA2623809556F10c.986_994del (p.Lys329_Pro331del)
c.976_984del (p.Arg326_Pro328del)
c.982_990del (p.Arg328_Pro330del)
c.854_862del (p.Lys285_Pro287del)
 gnomAD v4
13g.113149035A>CCA388792398F10c.985A>C (p.Lys329Gln)
c.975A>C (p.Ser325=)
c.981A>C (p.Ser327=)
c.853A>C (p.Lys285Gln)
13g.113149035A>GCA388792400F10c.985A>G (p.Lys329Glu)
c.975A>G (p.Ser325=)
c.981A>G (p.Ser327=)
c.853A>G (p.Lys285Glu)
13g.113149035A>TCA388792403F10c.985A>T (p.Lys329Ter)
c.975A>T (p.Ser325=)
c.981A>T (p.Ser327=)
c.853A>T (p.Lys285Ter)
13g.113149036A>CCA388792406F10c.986A>C (p.Lys329Thr)
c.976A>C (p.Arg326=)
c.982A>C (p.Arg328=)
c.854A>C (p.Lys285Thr)
13g.113149036A>GCA388792408F10c.986A>G (p.Lys329Arg)
c.976A>G (p.Arg326Gly)
c.982A>G (p.Arg328Gly)
c.854A>G (p.Lys285Arg)
13g.113149036A>TCA388792411F10c.986A>T (p.Lys329Met)
c.976A>T (p.Arg326Ter)
c.982A>T (p.Arg328Ter)
c.854A>T (p.Lys285Met)
13g.113149037G>ACA388792418F10c.987G>A (p.Lys329=)
c.977G>A (p.Arg326Lys)
c.983G>A (p.Arg328Lys)
c.855G>A (p.Lys285=)
13g.113149037G>CCA388792413F10c.987G>C (p.Lys329Asn)
c.977G>C (p.Arg326Thr)
c.983G>C (p.Arg328Thr)
c.855G>C (p.Lys285Asn)
13g.113149037G>TCA388792416F10c.987G>T (p.Lys329Asn)
c.977G>T (p.Arg326Ile)
c.983G>T (p.Arg328Ile)
c.855G>T (p.Lys285Asn)
13g.113149038A>CCA388792420F10c.988A>C (p.Thr330Pro)
c.978A>C (p.Arg326Ser)
c.984A>C (p.Arg328Ser)
c.856A>C (p.Thr286Pro)
13g.113149038A>GCA388792422F10c.988A>G (p.Thr330Ala)
c.978A>G (p.Arg326=)
c.984A>G (p.Arg328=)
c.856A>G (p.Thr286Ala)
13g.113149038A>TCA388792424F10c.988A>T (p.Thr330Ser)
c.978A>T (p.Arg326Ser)
c.984A>T (p.Arg328Ser)
c.856A>T (p.Thr286Ser)
13g.113149039C>ACA388792426F10c.989C>A (p.Thr330Asn)
c.979C>A (p.Pro327Thr)
c.985C>A (p.Pro329Thr)
c.857C>A (p.Thr286Asn)
13g.113149039C=CA2120140029F10c.989C= (p.Thr330=)
c.979C= (p.Pro327=)
c.985C= (p.Pro329=)
c.857C= (p.Thr286=)
13g.113149039C>GCA388792428F10c.989C>G (p.Thr330Ser)
c.979C>G (p.Pro327Ala)
c.985C>G (p.Pro329Ala)
c.857C>G (p.Thr286Ser)
13g.113149039C>TCA7060658F10c.989C>T (p.Thr330Ile)
c.979C>T (p.Pro327Ser)
c.985C>T (p.Pro329Ser)
c.857C>T (p.Thr286Ile)
 dbSNP ExAC gnomAD v2
13g.113149040C>ACA388792433F10c.990C>A (p.Thr330=)
c.980C>A (p.Pro327His)
c.986C>A (p.Pro329His)
c.858C>A (p.Thr286=)
 COSMIC
13g.113149040C=CA2120140032F10c.990C= (p.Thr330=)
c.980C= (p.Pro327=)
c.986C= (p.Pro329=)
c.858C= (p.Thr286=)
13g.113149040C>GCA388792436F10c.990C>G (p.Thr330=)
c.980C>G (p.Pro327Arg)
c.986C>G (p.Pro329Arg)
c.858C>G (p.Thr286=)
13g.113149040C>TCA388792439F10c.990C>T (p.Thr330=)
c.980C>T (p.Pro327Leu)
c.986C>T (p.Pro329Leu)
c.858C>T (p.Thr286=)
 dbSNP gnomAD v4
13g.113149041C>ACA388792443F10c.991C>A (p.Pro331Thr)
c.981C>A (p.Pro327=)
c.987C>A (p.Pro329=)
c.859C>A (p.Pro287Thr)
13g.113149041C=CA2120140036F10c.991C= (p.Pro331=)
c.981C= (p.Pro327=)
c.987C= (p.Pro329=)
c.859C= (p.Pro287=)
13g.113149041C>GCA388792446F10c.991C>G (p.Pro331Ala)
c.981C>G (p.Pro327=)
c.987C>G (p.Pro329=)
c.859C>G (p.Pro287Ala)
13g.113149041C>TCA388792448F10c.991C>T (p.Pro331Ser)
c.981C>T (p.Pro327=)
c.987C>T (p.Pro329=)
c.859C>T (p.Pro287Ser)
13g.113149042C>ACA388792452F10c.992C>A (p.Pro331His)
c.982C>A (p.Pro328Thr)
c.988C>A (p.Pro330Thr)
c.860C>A (p.Pro287His)
13g.113149042C>GCA388792455F10c.992C>G (p.Pro331Arg)
c.982C>G (p.Pro328Ala)
c.988C>G (p.Pro330Ala)
c.860C>G (p.Pro287Arg)
13g.113149042C>TCA388792450F10c.992C>T (p.Pro331Leu)
c.982C>T (p.Pro328Ser)
c.988C>T (p.Pro330Ser)
c.860C>T (p.Pro287Leu)
 ClinVar dbSNP
13g.113149043_113149046dupCA2120140038F10c.993_996dup (p.Thr333HisfsTer16)
c.983_986dup (p.Pro330IlefsTer?)
c.989_992dup (p.Pro332IlefsTer?)
c.861_864dup (p.Thr289HisfsTer16)
 dbSNP
13g.113149043C>ACA388792460F10c.993C>A (p.Pro331=)
c.983C>A (p.Pro328Gln)
c.989C>A (p.Pro330Gln)
c.861C>A (p.Pro287=)
13g.113149043C=CA2120140039F10c.993C= (p.Pro331=)
c.983C= (p.Pro328=)
c.989C= (p.Pro330=)
c.861C= (p.Pro287=)
13g.113149043C>GCA388792457F10c.993C>G (p.Pro331=)
c.983C>G (p.Pro328Arg)
c.989C>G (p.Pro330Arg)
c.861C>G (p.Pro287=)
13g.113149043C>TCA7060659F10c.993C>T (p.Pro331=)
c.983C>T (p.Pro328Leu)
c.989C>T (p.Pro330Leu)
c.861C>T (p.Pro287=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149044A=CA2120140041F10c.994A= (p.Ile332=)
c.984A= (p.Pro328=)
c.990A= (p.Pro330=)
c.862A= (p.Ile288=)
13g.113149044A>CCA388792466F10c.994A>C (p.Ile332Leu)
c.984A>C (p.Pro328=)
c.990A>C (p.Pro330=)
c.862A>C (p.Ile288Leu)
13g.113149044A>GCA388792469F10c.994A>G (p.Ile332Val)
c.984A>G (p.Pro328=)
c.990A>G (p.Pro330=)
c.862A>G (p.Ile288Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113149044A>TCA388792471F10c.994A>T (p.Ile332Phe)
c.984A>T (p.Pro328=)
c.990A>T (p.Pro330=)
c.862A>T (p.Ile288Phe)
13g.113149045T>ACA388792472F10c.995T>A (p.Ile332Asn)
c.985T>A (p.Ser329Thr)
c.991T>A (p.Ser331Thr)
c.863T>A (p.Ile288Asn)
13g.113149045T>CCA388792477F10c.995T>C (p.Ile332Thr)
c.985T>C (p.Ser329Pro)
c.991T>C (p.Ser331Pro)
c.863T>C (p.Ile288Thr)
13g.113149045T>GCA388792480F10c.995T>G (p.Ile332Ser)
c.985T>G (p.Ser329Ala)
c.991T>G (p.Ser331Ala)
c.863T>G (p.Ile288Ser)
13g.113149046C>ACA388792481F10c.996C>A (p.Ile332=)
c.986C>A (p.Ser329Ter)
c.992C>A (p.Ser331Ter)
c.864C>A (p.Ile288=)
13g.113149046C>GCA388792483F10c.996C>G (p.Ile332Met)
c.986C>G (p.Ser329Ter)
c.992C>G (p.Ser331Ter)
c.864C>G (p.Ile288Met)
13g.113149046C>TCA388792485F10c.996C>T (p.Ile332=)
c.986C>T (p.Ser329Leu)
c.992C>T (p.Ser331Leu)
c.864C>T (p.Ile288=)
13g.113149047A>CCA388792487F10c.997A>C (p.Thr333Pro)
c.987A>C (p.Ser329=)
c.993A>C (p.Ser331=)
c.865A>C (p.Thr289Pro)
13g.113149047A>GCA388792490F10c.997A>G (p.Thr333Ala)
c.987A>G (p.Ser329=)
c.993A>G (p.Ser331=)
c.865A>G (p.Thr289Ala)
13g.113149047A>TCA388792491F10c.997A>T (p.Thr333Ser)
c.987A>T (p.Ser329=)
c.993A>T (p.Ser331=)
c.865A>T (p.Thr289Ser)
13g.113149048C>ACA388792498F10c.998C>A (p.Thr333Asn)
c.988C>A (p.Pro330Thr)
c.994C>A (p.Pro332Thr)
c.866C>A (p.Thr289Asn)
 dbSNP gnomAD v3 gnomAD v4
13g.113149048C=CA2120140043F10c.998C= (p.Thr333=)
c.988C= (p.Pro330=)
c.994C= (p.Pro332=)
c.866C= (p.Thr289=)
13g.113149048C>GCA388792495F10c.998C>G (p.Thr333Ser)
c.988C>G (p.Pro330Ala)
c.994C>G (p.Pro332Ala)
c.866C>G (p.Thr289Ser)
13g.113149048C>TCA388792494F10c.998C>T (p.Thr333Ile)
c.988C>T (p.Pro330Ser)
c.994C>T (p.Pro332Ser)
c.866C>T (p.Thr289Ile)
13g.113149049C>ACA388792502F10c.999C>A (p.Thr333=)
c.989C>A (p.Pro330His)
c.995C>A (p.Pro332His)
c.867C>A (p.Thr289=)
13g.113149049C>GCA388792503F10c.999C>G (p.Thr333=)
c.989C>G (p.Pro330Arg)
c.995C>G (p.Pro332Arg)
c.867C>G (p.Thr289=)
13g.113149049C>TCA388792507F10c.999C>T (p.Thr333=)
c.989C>T (p.Pro330Leu)
c.995C>T (p.Pro332Leu)
c.867C>T (p.Thr289=)
 gnomAD v4
13g.113149050T>ACA388792509F10c.1000T>A (p.Phe334Ile)
c.990T>A (p.Pro330=)
c.996T>A (p.Pro332=)
c.868T>A (p.Phe290Ile)
 gnomAD v4
13g.113149050T>CCA388792511F10c.1000T>C (p.Phe334Leu)
c.990T>C (p.Pro330=)
c.996T>C (p.Pro332=)
c.868T>C (p.Phe290Leu)
13g.113149050T>GCA388792513F10c.1000T>G (p.Phe334Val)
c.990T>G (p.Pro330=)
c.996T>G (p.Pro332=)
c.868T>G (p.Phe290Val)
13g.113149051T>ACA388792516F10c.1001T>A (p.Phe334Tyr)
c.991T>A (p.Ser331Thr)
c.997T>A (p.Ser333Thr)
c.869T>A (p.Phe290Tyr)
13g.113149051T>CCA388792518F10c.1001T>C (p.Phe334Ser)
c.991T>C (p.Ser331Pro)
c.997T>C (p.Ser333Pro)
c.869T>C (p.Phe290Ser)
13g.113149051T>GCA388792520F10c.1001T>G (p.Phe334Cys)
c.991T>G (p.Ser331Ala)
c.997T>G (p.Ser333Ala)
c.869T>G (p.Phe290Cys)
13g.113149052C>ACA388792521F10c.1002C>A (p.Phe334Leu)
c.992C>A (p.Ser331Tyr)
c.998C>A (p.Ser333Tyr)
c.870C>A (p.Phe290Leu)
13g.113149052C>GCA388792523F10c.1002C>G (p.Phe334Leu)
c.992C>G (p.Ser331Cys)
c.998C>G (p.Ser333Cys)
c.870C>G (p.Phe290Leu)
 gnomAD v4
13g.113149052C>TCA388792526F10c.1002C>T (p.Phe334=)
c.992C>T (p.Ser331Phe)
c.998C>T (p.Ser333Phe)
c.870C>T (p.Phe290=)
13g.113149053C>ACA388792532F10c.1003C>A (p.Arg335Ser)
c.993C>A (p.Ser331=)
c.999C>A (p.Ser333=)
c.871C>A (p.Arg291Ser)
13g.113149053C=CA2120140045F10c.1003C= (p.Arg335=)
c.993C= (p.Ser331=)
c.999C= (p.Ser333=)
c.871C= (p.Arg291=)
13g.113149053C>GCA388792530F10c.1003C>G (p.Arg335Gly)
c.993C>G (p.Ser331=)
c.999C>G (p.Ser333=)
c.871C>G (p.Arg291Gly)
13g.113149053C>TCA7060660F10c.1003C>T (p.Arg335Cys)
c.993C>T (p.Ser331=)
c.999C>T (p.Ser333=)
c.871C>T (p.Arg291Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149054G>ACA7060661F10c.1004G>A (p.Arg335His)
c.994G>A (p.Ala332Thr)
c.1000G>A (p.Ala334Thr)
c.872G>A (p.Arg291His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149054G>CCA388792537F10c.1004G>C (p.Arg335Pro)
c.994G>C (p.Ala332Pro)
c.1000G>C (p.Ala334Pro)
c.872G>C (p.Arg291Pro)
 COSMIC
13g.113149054G=CA2120140055F10c.1004G= (p.Arg335=)
c.994G= (p.Ala332=)
c.1000G= (p.Ala334=)
c.872G= (p.Arg291=)
13g.113149054G>TCA388792539F10c.1004G>T (p.Arg335Leu)
c.994G>T (p.Ala332Ser)
c.1000G>T (p.Ala334Ser)
c.872G>T (p.Arg291Leu)
 gnomAD v4
13g.113149055delCA2623809558F10c.1005del (p.Met336Ter)
c.995del (p.Ala332AspfsTer12)
c.1001del (p.Ala334AspfsTer12)
c.873del (p.Met292Ter)
 gnomAD v4
13g.113149055C>ACA388792542F10c.1005C>A (p.Arg335=)
c.995C>A (p.Ala332Glu)
c.1001C>A (p.Ala334Glu)
c.873C>A (p.Arg291=)
13g.113149055C>GCA388792543F10c.1005C>G (p.Arg335=)
c.995C>G (p.Ala332Gly)
c.1001C>G (p.Ala334Gly)
c.873C>G (p.Arg291=)
13g.113149055C>TCA388792545F10c.1005C>T (p.Arg335=)
c.995C>T (p.Ala332Val)
c.1001C>T (p.Ala334Val)
c.873C>T (p.Arg291=)
13g.113149056A=CA2120140061F10c.1006A= (p.Met336=)
c.996A= (p.Ala332=)
c.1002A= (p.Ala334=)
c.874A= (p.Met292=)
13g.113149056A>CCA388792548F10c.1006A>C (p.Met336Leu)
c.996A>C (p.Ala332=)
c.1002A>C (p.Ala334=)
c.874A>C (p.Met292Leu)
13g.113149056A>GCA256478663F10c.1006A>G (p.Met336Val)
c.996A>G (p.Ala332=)
c.1002A>G (p.Ala334=)
c.874A>G (p.Met292Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113149056A>TCA388792551F10c.1006A>T (p.Met336Leu)
c.996A>T (p.Ala332=)
c.1002A>T (p.Ala334=)
c.874A>T (p.Met292Leu)
13g.113149057T>ACA388792554F10c.1007T>A (p.Met336Lys)
c.997T>A (p.Ter333Arg)
c.1003T>A (p.Ter335Arg)
c.875T>A (p.Met292Lys)
13g.113149057T>CCA388792556F10c.1007T>C (p.Met336Thr)
c.997T>C (p.Ter333Arg)
c.1003T>C (p.Ter335Arg)
c.875T>C (p.Met292Thr)
13g.113149057T>GCA388792558F10c.1007T>G (p.Met336Arg)
c.997T>G (p.Ter333Gly)
c.1003T>G (p.Ter335Gly)
c.875T>G (p.Met292Arg)

Number of alleles fetched