Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.144186754_144186760delCA2697553777STX11c.127_133del (p.Ser43ThrfsTer18)
c.205_211del (p.Ser69ThrfsTer18)
 ClinVar
6g.144186756C>ACA452707679STX11c.129C>A (p.Ser43=)
c.207C>A (p.Ser69=)
6g.144186756C>GCA452707680STX11c.129C>G (p.Ser43=)
c.207C>G (p.Ser69=)
 gnomAD v4
6g.144186756C>TCA452707681STX11c.129C>T (p.Ser43=)
c.207C>T (p.Ser69=)
6g.144186757C>ACA365948593STX11c.130C>A (p.Leu44Met)
c.208C>A (p.Leu70Met)
 dbSNP gnomAD v2
6g.144186757C=CA1669582489STX11c.130C= (p.Leu44=)
c.208C= (p.Leu70=)
6g.144186757C>GCA365948594STX11c.130C>G (p.Leu44Val)
c.208C>G (p.Leu70Val)
 dbSNP
6g.144186757C>TCA452707682STX11c.130C>T (p.Leu44=)
c.208C>T (p.Leu70=)
 gnomAD v4
6g.144186758T>ACA365948595STX11c.131T>A (p.Leu44Gln)
c.209T>A (p.Leu70Gln)
6g.144186758T>CCA365948596STX11c.131T>C (p.Leu44Pro)
c.209T>C (p.Leu70Pro)
6g.144186758T>GCA365948597STX11c.131T>G (p.Leu44Arg)
c.209T>G (p.Leu70Arg)
6g.144186759G>ACA452707683STX11c.132G>A (p.Leu44=)
c.210G>A (p.Leu70=)
6g.144186759G>CCA452707684STX11c.132G>C (p.Leu44=)
c.210G>C (p.Leu70=)
6g.144186759G>TCA452707685STX11c.132G>T (p.Leu44=)
c.210G>T (p.Leu70=)
6g.144186760T>ACA365948598STX11c.133T>A (p.Tyr45Asn)
c.211T>A (p.Tyr71Asn)
6g.144186760T>CCA365948600STX11c.133T>C (p.Tyr45His)
c.211T>C (p.Tyr71His)
6g.144186760T>GCA365948599STX11c.133T>G (p.Tyr45Asp)
c.211T>G (p.Tyr71Asp)
6g.144186761A=CA1669582490STX11c.134A= (p.Tyr45=)
c.212A= (p.Tyr71=)
6g.144186761A>CCA365948601STX11c.134A>C (p.Tyr45Ser)
c.212A>C (p.Tyr71Ser)
6g.144186761A>GCA365948602STX11c.134A>G (p.Tyr45Cys)
c.212A>G (p.Tyr71Cys)
 dbSNP gnomAD v4 COSMIC
6g.144186761A>TCA365948603STX11c.134A>T (p.Tyr45Phe)
c.212A>T (p.Tyr71Phe)
6g.144186762C>ACA365948604STX11c.135C>A (p.Tyr45Ter)
c.213C>A (p.Tyr71Ter)
6g.144186762C>GCA365948605STX11c.135C>G (p.Tyr45Ter)
c.213C>G (p.Tyr71Ter)
6g.144186762C>TCA452707686STX11c.135C>T (p.Tyr45=)
c.213C>T (p.Tyr71=)
6g.144186763C>ACA452707687STX11c.136C>A (p.Arg46=)
c.214C>A (p.Arg72=)
 dbSNP gnomAD v4
6g.144186763C=CA1669582491STX11c.136C= (p.Arg46=)
c.214C= (p.Arg72=)
6g.144186763C>GCA365948606STX11c.136C>G (p.Arg46Gly)
c.214C>G (p.Arg72Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
6g.144186763C>TCA365948607STX11c.136C>T (p.Arg46Ter)
c.214C>T (p.Arg72Ter)
6g.144186764G>ACA4031634STX11c.137G>A (p.Arg46Gln)
c.215G>A (p.Arg72Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.144186764G>CCA365948608STX11c.137G>C (p.Arg46Pro)
c.215G>C (p.Arg72Pro)
 dbSNP gnomAD v3 gnomAD v4
6g.144186764G=CA1669582492STX11c.137G= (p.Arg46=)
c.215G= (p.Arg72=)
6g.144186764G>TCA365948609STX11c.137G>T (p.Arg46Leu)
c.215G>T (p.Arg72Leu)
6g.144186765A>CCA452707688STX11c.138A>C (p.Arg46=)
c.216A>C (p.Arg72=)
6g.144186765A>GCA452707690STX11c.138A>G (p.Arg46=)
c.216A>G (p.Arg72=)
6g.144186765A>TCA452707691STX11c.138A>T (p.Arg46=)
c.216A>T (p.Arg72=)
6g.144186766G>ACA365948610STX11c.139G>A (p.Asp47Asn)
c.217G>A (p.Asp73Asn)
6g.144186766G>CCA365948611STX11c.139G>C (p.Asp47His)
c.217G>C (p.Asp73His)
6g.144186766G>TCA365948612STX11c.139G>T (p.Asp47Tyr)
c.217G>T (p.Asp73Tyr)
6g.144186767A>CCA365948615STX11c.140A>C (p.Asp47Ala)
c.218A>C (p.Asp73Ala)
6g.144186767A>GCA365948613STX11c.140A>G (p.Asp47Gly)
c.218A>G (p.Asp73Gly)
6g.144186767A>TCA365948614STX11c.140A>T (p.Asp47Val)
c.218A>T (p.Asp73Val)
6g.144186768C>ACA365948616STX11c.141C>A (p.Asp47Glu)
c.219C>A (p.Asp73Glu)
6g.144186768C=CA1669582493STX11c.141C= (p.Asp47=)
c.219C= (p.Asp73=)
6g.144186768C>GCA365948617STX11c.141C>G (p.Asp47Glu)
c.219C>G (p.Asp73Glu)
6g.144186768C>TCA4031635STX11c.141C>T (p.Asp47=)
c.219C>T (p.Asp73=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.144186769A=CA1669582494STX11c.142A= (p.Ile48=)
c.220A= (p.Ile74=)
6g.144186769A>CCA365948618STX11c.142A>C (p.Ile48Leu)
c.220A>C (p.Ile74Leu)
6g.144186769A>GCA149823923STX11c.142A>G (p.Ile48Val)
c.220A>G (p.Ile74Val)
 dbSNP gnomAD v4
6g.144186769A>TCA365948619STX11c.142A>T (p.Ile48Phe)
c.220A>T (p.Ile74Phe)
6g.144186770T>ACA365948620STX11c.143T>A (p.Ile48Asn)
c.221T>A (p.Ile74Asn)
 gnomAD v4
6g.144186770T>CCA365948621STX11c.143T>C (p.Ile48Thr)
c.221T>C (p.Ile74Thr)
6g.144186770T>GCA365948622STX11c.143T>G (p.Ile48Ser)
c.221T>G (p.Ile74Ser)
6g.144186770dupCA2680618342STX11c.143dup (p.Arg49ProfsTer6)
c.221dup (p.Arg75ProfsTer6)
 gnomAD v4
6g.144186771C>ACA452707693STX11c.144C>A (p.Ile48=)
c.222C>A (p.Ile74=)
6g.144186771C>GCA365948623STX11c.144C>G (p.Ile48Met)
c.222C>G (p.Ile74Met)
6g.144186771C>TCA452707692STX11c.144C>T (p.Ile48=)
c.222C>T (p.Ile74=)
 gnomAD v4
6g.144186772C>ACA452707694STX11c.145C>A (p.Arg49=)
c.223C>A (p.Arg75=)
 dbSNP gnomAD v4
6g.144186772C=CA1669582495STX11c.145C= (p.Arg49=)
c.223C= (p.Arg75=)
6g.144186772C>GCA365948624STX11c.145C>G (p.Arg49Gly)
c.223C>G (p.Arg75Gly)
 dbSNP
6g.144186772C>TCA365948625STX11c.145C>T (p.Arg49Trp)
c.223C>T (p.Arg75Trp)
 dbSNP gnomAD v4
6g.144186773G>ACA4031636STX11c.146G>A (p.Arg49Gln)
c.224G>A (p.Arg75Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.144186773G>CCA365948627STX11c.146G>C (p.Arg49Pro)
c.224G>C (p.Arg75Pro)
6g.144186773G=CA1669582496STX11c.146G= (p.Arg49=)
c.224G= (p.Arg75=)
6g.144186773G>TCA365948626STX11c.146G>T (p.Arg49Leu)
c.224G>T (p.Arg75Leu)
6g.144186774G>ACA452707695STX11c.147G>A (p.Arg49=)
c.225G>A (p.Arg75=)
 gnomAD v4
6g.144186774G>CCA452707697STX11c.147G>C (p.Arg49=)
c.225G>C (p.Arg75=)
6g.144186774G>TCA452707696STX11c.147G>T (p.Arg49=)
c.225G>T (p.Arg75=)
6g.144186775G>ACA365948629STX11c.148G>A (p.Asp50Asn)
c.226G>A (p.Asp76Asn)
 dbSNP gnomAD v3 gnomAD v4
6g.144186775G>CCA365948628STX11c.148G>C (p.Asp50His)
c.226G>C (p.Asp76His)
6g.144186775G=CA1669582497STX11c.148G= (p.Asp50=)
c.226G= (p.Asp76=)
6g.144186775G>TCA365948630STX11c.148G>T (p.Asp50Tyr)
c.226G>T (p.Asp76Tyr)
6g.144186776A>CCA365948631STX11c.149A>C (p.Asp50Ala)
c.227A>C (p.Asp76Ala)
6g.144186776A>GCA365948632STX11c.149A>G (p.Asp50Gly)
c.227A>G (p.Asp76Gly)
6g.144186776A>TCA365948633STX11c.149A>T (p.Asp50Val)
c.227A>T (p.Asp76Val)
6g.144186777C>ACA365948634STX11c.150C>A (p.Asp50Glu)
c.228C>A (p.Asp76Glu)
6g.144186777C>GCA365948635STX11c.150C>G (p.Asp50Glu)
c.228C>G (p.Asp76Glu)
6g.144186777C>TCA452707698STX11c.150C>T (p.Asp50=)
c.228C>T (p.Asp76=)
 gnomAD v4
6g.144186778A>CCA365948636STX11c.151A>C (p.Ile51Leu)
c.229A>C (p.Ile77Leu)
6g.144186778A>GCA365948637STX11c.151A>G (p.Ile51Val)
c.229A>G (p.Ile77Val)
 gnomAD v4
6g.144186778A>TCA365948638STX11c.151A>T (p.Ile51Phe)
c.229A>T (p.Ile77Phe)
6g.144186779T>ACA365948639STX11c.152T>A (p.Ile51Asn)
c.230T>A (p.Ile77Asn)
6g.144186779T>CCA365948641STX11c.152T>C (p.Ile51Thr)
c.230T>C (p.Ile77Thr)
6g.144186779T>GCA365948640STX11c.152T>G (p.Ile51Ser)
c.230T>G (p.Ile77Ser)
6g.144186780T>ACA452707700STX11c.153T>A (p.Ile51=)
c.231T>A (p.Ile77=)
6g.144186780T>CCA452707701STX11c.153T>C (p.Ile51=)
c.231T>C (p.Ile77=)
6g.144186780T>GCA365948642STX11c.153T>G (p.Ile51Met)
c.231T>G (p.Ile77Met)
 dbSNP
6g.144186780T=CA1669582498STX11c.153T= (p.Ile51=)
c.231T= (p.Ile77=)
6g.144186781C>ACA365948643STX11c.154C>A (p.Gln52Lys)
c.232C>A (p.Gln78Lys)
 gnomAD v4
6g.144186781C=CA1669582499STX11c.154C= (p.Gln52=)
c.232C= (p.Gln78=)
6g.144186781C>GCA365948644STX11c.154C>G (p.Gln52Glu)
c.232C>G (p.Gln78Glu)
 dbSNP gnomAD v4
6g.144186781C>TCA365948645STX11c.154C>T (p.Gln52Ter)
c.232C>T (p.Gln78Ter)
 COSMIC
6g.144186782A>CCA365948646STX11c.155A>C (p.Gln52Pro)
c.233A>C (p.Gln78Pro)
6g.144186782A>GCA365948648STX11c.155A>G (p.Gln52Arg)
c.233A>G (p.Gln78Arg)
 gnomAD v4
6g.144186782A>TCA365948647STX11c.155A>T (p.Gln52Leu)
c.233A>T (p.Gln78Leu)
6g.144186782_144186786delinsAGGATCA1669582500STX11c.155_159delinsAGGAT (p.Gln52=)
c.233_237delinsAGGAT (p.Gln78=)
6g.144186783G>ACA4031638STX11c.156G>A (p.Gln52=)
c.234G>A (p.Gln78=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.144186783G>CCA365948649STX11c.156G>C (p.Gln52His)
c.234G>C (p.Gln78His)
6g.144186783G=CA1669582501STX11c.156G= (p.Gln52=)
c.234G= (p.Gln78=)
6g.144186783G>TCA365948650STX11c.156G>T (p.Gln52His)
c.234G>T (p.Gln78His)
6g.144186784_144186787delCA4031637STX11c.157_160del (p.Asp53LysfsTer9)
c.235_238del (p.Asp79LysfsTer9)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.144186784G>ACA4031639STX11c.157G>A (p.Asp53Asn)
c.235G>A (p.Asp79Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.144186784G>CCA365948651STX11c.157G>C (p.Asp53His)
c.235G>C (p.Asp79His)
 dbSNP gnomAD v3 gnomAD v4
6g.144186784G=CA1669582502STX11c.157G= (p.Asp53=)
c.235G= (p.Asp79=)
6g.144186784G>TCA365948652STX11c.157G>T (p.Asp53Tyr)
c.235G>T (p.Asp79Tyr)
6g.144186785A=CA1669582503STX11c.158A= (p.Asp53=)
c.236A= (p.Asp79=)
6g.144186785A>CCA365948653STX11c.158A>C (p.Asp53Ala)
c.236A>C (p.Asp79Ala)
 dbSNP gnomAD v3 gnomAD v4
6g.144186785A>GCA365948654STX11c.158A>G (p.Asp53Gly)
c.236A>G (p.Asp79Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.144186785A>TCA365948655STX11c.158A>T (p.Asp53Val)
c.236A>T (p.Asp79Val)
 dbSNP
6g.144186786T>ACA365948656STX11c.159T>A (p.Asp53Glu)
c.237T>A (p.Asp79Glu)
 gnomAD v4
6g.144186786T>CCA452707702STX11c.159T>C (p.Asp53=)
c.237T>C (p.Asp79=)
6g.144186786T>GCA365948657STX11c.159T>G (p.Asp53Glu)
c.237T>G (p.Asp79Glu)
6g.144186787G>ACA365948658STX11c.160G>A (p.Glu54Lys)
c.238G>A (p.Glu80Lys)
6g.144186787G>CCA365948660STX11c.160G>C (p.Glu54Gln)
c.238G>C (p.Glu80Gln)
6g.144186787G>TCA365948659STX11c.160G>T (p.Glu54Ter)
c.238G>T (p.Glu80Ter)
6g.144186788A=CA1669582504STX11c.161A= (p.Glu54=)
c.239A= (p.Glu80=)
6g.144186788A>CCA365948661STX11c.161A>C (p.Glu54Ala)
c.239A>C (p.Glu80Ala)
6g.144186788A>GCA365948662STX11c.161A>G (p.Glu54Gly)
c.239A>G (p.Glu80Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.144186788A>TCA365948663STX11c.161A>T (p.Glu54Val)
c.239A>T (p.Glu80Val)
6g.144186789A>CCA365948664STX11c.162A>C (p.Glu54Asp)
c.240A>C (p.Glu80Asp)
6g.144186789A>GCA452707703STX11c.162A>G (p.Glu54=)
c.240A>G (p.Glu80=)
6g.144186789A>TCA365948665STX11c.162A>T (p.Glu54Asp)
c.240A>T (p.Glu80Asp)
6g.144186790A>CCA365948666STX11c.163A>C (p.Asn55His)
c.241A>C (p.Asn81His)
6g.144186790A>GCA365948667STX11c.163A>G (p.Asn55Asp)
c.241A>G (p.Asn81Asp)
6g.144186790A>TCA365948668STX11c.163A>T (p.Asn55Tyr)
c.241A>T (p.Asn81Tyr)
6g.144186791A=CA1669582505STX11c.164A= (p.Asn55=)
c.242A= (p.Asn81=)
6g.144186791A>CCA365948669STX11c.164A>C (p.Asn55Thr)
c.242A>C (p.Asn81Thr)
 dbSNP
6g.144186791A>GCA4031640STX11c.164A>G (p.Asn55Ser)
c.242A>G (p.Asn81Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.144186791A>TCA365948670STX11c.164A>T (p.Asn55Ile)
c.242A>T (p.Asn81Ile)
6g.144186792C>ACA365948671STX11c.165C>A (p.Asn55Lys)
c.243C>A (p.Asn81Lys)
6g.144186792C=CA1669582506STX11c.165C= (p.Asn55=)
c.243C= (p.Asn81=)
6g.144186792C>GCA4031641STX11c.165C>G (p.Asn55Lys)
c.243C>G (p.Asn81Lys)
 dbSNP ExAC gnomAD v2
6g.144186792C>TCA452707704STX11c.165C>T (p.Asn55=)
c.243C>T (p.Asn81=)
6g.144186793C>ACA365948672STX11c.166C>A (p.Gln56Lys)
c.244C>A (p.Gln82Lys)
 gnomAD v4
6g.144186793C>GCA365948674STX11c.166C>G (p.Gln56Glu)
c.244C>G (p.Gln82Glu)
6g.144186793C>TCA365948673STX11c.166C>T (p.Gln56Ter)
c.244C>T (p.Gln82Ter)
6g.144186794A>CCA365948675STX11c.167A>C (p.Gln56Pro)
c.245A>C (p.Gln82Pro)
6g.144186794A>GCA365948676STX11c.167A>G (p.Gln56Arg)
c.245A>G (p.Gln82Arg)
6g.144186794A>TCA365948677STX11c.167A>T (p.Gln56Leu)
c.245A>T (p.Gln82Leu)
6g.144186795G>ACA452707705STX11c.168G>A (p.Gln56=)
c.246G>A (p.Gln82=)
6g.144186795G>CCA365948678STX11c.168G>C (p.Gln56His)
c.246G>C (p.Gln82His)
6g.144186795G>TCA365948679STX11c.168G>T (p.Gln56His)
c.246G>T (p.Gln82His)
6g.144186796C>ACA365948680STX11c.169C>A (p.Leu57Met)
c.247C>A (p.Leu83Met)
6g.144186796C=CA1669582507STX11c.169C= (p.Leu57=)
c.247C= (p.Leu83=)
6g.144186796C>GCA4031642STX11c.169C>G (p.Leu57Val)
c.247C>G (p.Leu83Val)
 dbSNP ExAC
6g.144186796C>TCA452707706STX11c.169C>T (p.Leu57=)
c.247C>T (p.Leu83=)
 dbSNP gnomAD v2 gnomAD v4
6g.144186797T>ACA365948681STX11c.170T>A (p.Leu57Gln)
c.248T>A (p.Leu83Gln)
6g.144186797T>CCA365948682STX11c.170T>C (p.Leu57Pro)
c.248T>C (p.Leu83Pro)
6g.144186797T>GCA365948683STX11c.170T>G (p.Leu57Arg)
c.248T>G (p.Leu83Arg)
6g.144186798G>ACA452707707STX11c.171G>A (p.Leu57=)
c.249G>A (p.Leu83=)
6g.144186798G>CCA452707709STX11c.171G>C (p.Leu57=)
c.249G>C (p.Leu83=)
6g.144186798G>TCA452707708STX11c.171G>T (p.Leu57=)
c.249G>T (p.Leu83=)
6g.144186799C>ACA365948685STX11c.172C>A (p.Leu58Met)
c.250C>A (p.Leu84Met)
6g.144186799C=CA1669582508STX11c.172C= (p.Leu58=)
c.250C= (p.Leu84=)
6g.144186799C>GCA365948684STX11c.172C>G (p.Leu58Val)
c.250C>G (p.Leu84Val)
 dbSNP
6g.144186799C>TCA149823924STX11c.172C>T (p.Leu58=)
c.250C>T (p.Leu84=)
 ClinVar dbSNP
6g.144186800T>ACA365948686STX11c.173T>A (p.Leu58Gln)
c.251T>A (p.Leu84Gln)
6g.144186800T>CCA267503STX11c.173T>C (p.Leu58Pro)
c.251T>C (p.Leu84Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.144186800T>GCA365948687STX11c.173T>G (p.Leu58Arg)
c.251T>G (p.Leu84Arg)
 COSMIC
6g.144186800T=CA1669582509STX11c.173T= (p.Leu58=)
c.251T= (p.Leu84=)
6g.144186801G>ACA452707710STX11c.174G>A (p.Leu58=)
c.252G>A (p.Leu84=)
 ClinVar gnomAD v4
6g.144186801G>CCA452707711STX11c.174G>C (p.Leu58=)
c.252G>C (p.Leu84=)
 ClinVar dbSNP
6g.144186801G=CA1669582510STX11c.174G= (p.Leu58=)
c.252G= (p.Leu84=)
6g.144186801G>TCA452707712STX11c.174G>T (p.Leu58=)
c.252G>T (p.Leu84=)
 dbSNP gnomAD v3 gnomAD v4
6g.144186802G>ACA365948688STX11c.175G>A (p.Val59Met)
c.253G>A (p.Val85Met)
 gnomAD v4
6g.144186802G>CCA365948689STX11c.175G>C (p.Val59Leu)
c.253G>C (p.Val85Leu)
6g.144186802G>TCA365948690STX11c.175G>T (p.Val59Leu)
c.253G>T (p.Val85Leu)
6g.144186803T>ACA365948693STX11c.176T>A (p.Val59Glu)
c.254T>A (p.Val85Glu)
6g.144186803T>CCA365948692STX11c.176T>C (p.Val59Ala)
c.254T>C (p.Val85Ala)
6g.144186803T>GCA365948691STX11c.176T>G (p.Val59Gly)
c.254T>G (p.Val85Gly)
6g.144186804G>ACA452707713STX11c.177G>A (p.Val59=)
c.255G>A (p.Val85=)
6g.144186804G>CCA452707714STX11c.177G>C (p.Val59=)
c.255G>C (p.Val85=)
6g.144186804G>TCA452707715STX11c.177G>T (p.Val59=)
c.255G>T (p.Val85=)
6g.144186805G>ACA365948694STX11c.178G>A (p.Ala60Thr)
c.256G>A (p.Ala86Thr)
6g.144186805G>CCA365948695STX11c.178G>C (p.Ala60Pro)
c.256G>C (p.Ala86Pro)
6g.144186805G=CA1669582511STX11c.178G= (p.Ala60=)
c.256G= (p.Ala86=)
6g.144186805G>TCA365948696STX11c.178G>T (p.Ala60Ser)
c.256G>T (p.Ala86Ser)
 dbSNP
6g.144186806C>ACA365948697STX11c.179C>A (p.Ala60Asp)
c.257C>A (p.Ala86Asp)
6g.144186806C=CA1669582512STX11c.179C= (p.Ala60=)
c.257C= (p.Ala86=)
6g.144186806C>GCA365948698STX11c.179C>G (p.Ala60Gly)
c.257C>G (p.Ala86Gly)
6g.144186806C>TCA4031643STX11c.179C>T (p.Ala60Val)
c.257C>T (p.Ala86Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.144186807C>ACA452707718STX11c.180C>A (p.Ala60=)
c.258C>A (p.Ala86=)
 ClinVar gnomAD v4
6g.144186807C=CA1669582513STX11c.180C= (p.Ala60=)
c.258C= (p.Ala86=)
6g.144186807C>GCA452707716STX11c.180C>G (p.Ala60=)
c.258C>G (p.Ala86=)
 gnomAD v4
6g.144186807C>TCA452707717STX11c.180C>T (p.Ala60=)
c.258C>T (p.Ala86=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.144186808G>ACA365948699STX11c.181G>A (p.Asp61Asn)
c.259G>A (p.Asp87Asn)
 gnomAD v4 COSMIC
6g.144186808G>CCA365948701STX11c.181G>C (p.Asp61His)
c.259G>C (p.Asp87His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.144186808G=CA1669582514STX11c.181G= (p.Asp61=)
c.259G= (p.Asp87=)
6g.144186808G>TCA365948700STX11c.181G>T (p.Asp61Tyr)
c.259G>T (p.Asp87Tyr)
 gnomAD v4
6g.144186809A>CCA365948702STX11c.182A>C (p.Asp61Ala)
c.260A>C (p.Asp87Ala)
6g.144186809A>GCA365948703STX11c.182A>G (p.Asp61Gly)
c.260A>G (p.Asp87Gly)
6g.144186809A>TCA365948704STX11c.182A>T (p.Asp61Val)
c.260A>T (p.Asp87Val)
6g.144186810C>ACA365948705STX11c.183C>A (p.Asp61Glu)
c.261C>A (p.Asp87Glu)
6g.144186810C=CA1669582515STX11c.183C= (p.Asp61=)
c.261C= (p.Asp87=)
6g.144186810C>GCA4031645STX11c.183C>G (p.Asp61Glu)
c.261C>G (p.Asp87Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.144186810C>TCA4031644STX11c.183C>T (p.Asp61=)
c.261C>T (p.Asp87=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.144186811G>ACA365948706STX11c.184G>A (p.Val62Met)
c.262G>A (p.Val88Met)
 ClinVar dbSNP gnomAD v4 COSMIC
6g.144186811G>CCA4031646STX11c.184G>C (p.Val62Leu)
c.262G>C (p.Val88Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.144186811G=CA1669582516STX11c.184G= (p.Val62=)
c.262G= (p.Val88=)
6g.144186811G>TCA365948707STX11c.184G>T (p.Val62Leu)
c.262G>T (p.Val88Leu)
 dbSNP
6g.144186812T>ACA365948708STX11c.185T>A (p.Val62Glu)
c.263T>A (p.Val88Glu)
6g.144186812T>CCA365948709STX11c.185T>C (p.Val62Ala)
c.263T>C (p.Val88Ala)
 dbSNP
6g.144186812T>GCA365948710STX11c.185T>G (p.Val62Gly)
c.263T>G (p.Val88Gly)
6g.144186812T=CA1669582517STX11c.185T= (p.Val62=)
c.263T= (p.Val88=)
6g.144186813G>ACA452707719STX11c.186G>A (p.Val62=)
c.264G>A (p.Val88=)
6g.144186813G>CCA452707720STX11c.186G>C (p.Val62=)
c.264G>C (p.Val88=)
6g.144186813G>TCA452707721STX11c.186G>T (p.Val62=)
c.264G>T (p.Val88=)
6g.144186814A=CA1669582518STX11c.187A= (p.Lys63=)
c.265A= (p.Lys89=)
6g.144186814A>CCA365948711STX11c.187A>C (p.Lys63Gln)
c.265A>C (p.Lys89Gln)
6g.144186814A>GCA149823925STX11c.187A>G (p.Lys63Glu)
c.265A>G (p.Lys89Glu)
 dbSNP gnomAD v4
6g.144186814A>TCA365948712STX11c.187A>T (p.Lys63Ter)
c.265A>T (p.Lys89Ter)
6g.144186815A>CCA365948713STX11c.188A>C (p.Lys63Thr)
c.266A>C (p.Lys89Thr)
6g.144186815A>GCA365948714STX11c.188A>G (p.Lys63Arg)
c.266A>G (p.Lys89Arg)
 gnomAD v4
6g.144186815A>TCA365948715STX11c.188A>T (p.Lys63Met)
c.266A>T (p.Lys89Met)
6g.144186816G>ACA4031647STX11c.189G>A (p.Lys63=)
c.267G>A (p.Lys89=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.144186816G>CCA365948716STX11c.189G>C (p.Lys63Asn)
c.267G>C (p.Lys89Asn)
6g.144186816G=CA1669582519STX11c.189G= (p.Lys63=)
c.267G= (p.Lys89=)
6g.144186816G>TCA365948717STX11c.189G>T (p.Lys63Asn)
c.267G>T (p.Lys89Asn)
6g.144186817C>ACA452707722STX11c.190C>A (p.Arg64=)
c.268C>A (p.Arg90=)
6g.144186817C=CA1669582520STX11c.190C= (p.Arg64=)
c.268C= (p.Arg90=)
6g.144186817C>GCA4031648STX11c.190C>G (p.Arg64Gly)
c.268C>G (p.Arg90Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.144186817C>TCA365948718STX11c.190C>T (p.Arg64Trp)
c.268C>T (p.Arg90Trp)
6g.144186818G>ACA365948719STX11c.191G>A (p.Arg64Gln)
c.269G>A (p.Arg90Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
6g.144186818G>CCA365948720STX11c.191G>C (p.Arg64Pro)
c.269G>C (p.Arg90Pro)
6g.144186818G=CA1669582521STX11c.191G= (p.Arg64=)
c.269G= (p.Arg90=)
6g.144186818G>TCA365948721STX11c.191G>T (p.Arg64Leu)
c.269G>T (p.Arg90Leu)
 dbSNP gnomAD v4
6g.144186819G>ACA452707723STX11c.192G>A (p.Arg64=)
c.270G>A (p.Arg90=)
 COSMIC
6g.144186819G>CCA149823926STX11c.192G>C (p.Arg64=)
c.270G>C (p.Arg90=)
 dbSNP
6g.144186819G=CA1669582522STX11c.192G= (p.Arg64=)
c.270G= (p.Arg90=)
6g.144186819G>TCA452707724STX11c.192G>T (p.Arg64=)
c.270G>T (p.Arg90=)
 gnomAD v4 COSMIC
6g.144186820C>ACA365948722STX11c.193C>A (p.Leu65Met)
c.271C>A (p.Leu91Met)
6g.144186820C=CA1669582523STX11c.193C= (p.Leu65=)
c.271C= (p.Leu91=)
6g.144186820C>GCA365948723STX11c.193C>G (p.Leu65Val)
c.271C>G (p.Leu91Val)
6g.144186820C>TCA149823927STX11c.193C>T (p.Leu65=)
c.271C>T (p.Leu91=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.144186821T>ACA365948724STX11c.194T>A (p.Leu65Gln)
c.272T>A (p.Leu91Gln)
 gnomAD v4
6g.144186821T>CCA365948726STX11c.194T>C (p.Leu65Pro)
c.272T>C (p.Leu91Pro)
 gnomAD v4
6g.144186821T>GCA365948725STX11c.194T>G (p.Leu65Arg)
c.272T>G (p.Leu91Arg)
6g.144186822G>ACA452707731STX11c.195G>A (p.Leu65=)
c.273G>A (p.Leu91=)
 gnomAD v4
6g.144186822G>CCA452707733STX11c.195G>C (p.Leu65=)
c.273G>C (p.Leu91=)
6g.144186822G>TCA452707734STX11c.195G>T (p.Leu65=)
c.273G>T (p.Leu91=)
6g.144186823G>ACA365948727STX11c.196G>A (p.Gly66Arg)
c.274G>A (p.Gly92Arg)
 dbSNP gnomAD v2 gnomAD v4
6g.144186823G>CCA365948728STX11c.196G>C (p.Gly66Arg)
c.274G>C (p.Gly92Arg)
6g.144186823G=CA1669582524STX11c.196G= (p.Gly66=)
c.274G= (p.Gly92=)
6g.144186823G>TCA365948729STX11c.196G>T (p.Gly66Ter)
c.274G>T (p.Gly92Ter)
6g.144186824G>ACA365948730STX11c.197G>A (p.Gly66Glu)
c.275G>A (p.Gly92Glu)
6g.144186824G>CCA365948731STX11c.197G>C (p.Gly66Ala)
c.275G>C (p.Gly92Ala)
6g.144186824G>TCA365948732STX11c.197G>T (p.Gly66Val)
c.275G>T (p.Gly92Val)
6g.144186825A=CA1669582525STX11c.198A= (p.Gly66=)
c.276A= (p.Gly92=)
6g.144186825A>CCA452707746STX11c.198A>C (p.Gly66=)
c.276A>C (p.Gly92=)
6g.144186825A>GCA4031649STX11c.198A>G (p.Gly66=)
c.276A>G (p.Gly92=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.144186825A>TCA452707749STX11c.198A>T (p.Gly66=)
c.276A>T (p.Gly92=)
6g.144186826A>CCA365948733STX11c.199A>C (p.Lys67Gln)
c.277A>C (p.Lys93Gln)
6g.144186826A>GCA365948734STX11c.199A>G (p.Lys67Glu)
c.277A>G (p.Lys93Glu)
6g.144186826A>TCA365948735STX11c.199A>T (p.Lys67Ter)
c.277A>T (p.Lys93Ter)
6g.144186827A=CA1669582526STX11c.200A= (p.Lys67=)
c.278A= (p.Lys93=)
6g.144186827A>CCA365948737STX11c.200A>C (p.Lys67Thr)
c.278A>C (p.Lys93Thr)
6g.144186827A>GCA4031650STX11c.200A>G (p.Lys67Arg)
c.278A>G (p.Lys93Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.144186827A>TCA365948736STX11c.200A>T (p.Lys67Met)
c.278A>T (p.Lys93Met)
6g.144186828G>ACA452731012STX11c.201G>A (p.Lys67=)
c.279G>A (p.Lys93=)
 gnomAD v4
6g.144186828G>CCA4031651STX11c.201G>C (p.Lys67Asn)
c.279G>C (p.Lys93Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.144186828G=CA1669582527STX11c.201G= (p.Lys67=)
c.279G= (p.Lys93=)
6g.144186828G>TCA365948738STX11c.201G>T (p.Lys67Asn)
c.279G>T (p.Lys93Asn)
6g.144186829C>ACA365948739STX11c.202C>A (p.Gln68Lys)
c.280C>A (p.Gln94Lys)
6g.144186829C>GCA365948740STX11c.202C>G (p.Gln68Glu)
c.280C>G (p.Gln94Glu)
6g.144186829C>TCA365948741STX11c.202C>T (p.Gln68Ter)
c.280C>T (p.Gln94Ter)
6g.144186830A=CA1669582528STX11c.203A= (p.Gln68=)
c.281A= (p.Gln94=)
6g.144186830A>CCA365948742STX11c.203A>C (p.Gln68Pro)
c.281A>C (p.Gln94Pro)
6g.144186830A>GCA365948743STX11c.203A>G (p.Gln68Arg)
c.281A>G (p.Gln94Arg)
 dbSNP
6g.144186830A>TCA365948744STX11c.203A>T (p.Gln68Leu)
c.281A>T (p.Gln94Leu)
6g.144186831G>ACA452731019STX11c.204G>A (p.Gln68=)
c.282G>A (p.Gln94=)
 ClinVar gnomAD v4
6g.144186831G>CCA365948745STX11c.204G>C (p.Gln68His)
c.282G>C (p.Gln94His)
6g.144186831G>TCA365948746STX11c.204G>T (p.Gln68His)
c.282G>T (p.Gln94His)
6g.144186832A>CCA365948747STX11c.205A>C (p.Asn69His)
c.283A>C (p.Asn95His)
6g.144186832A>GCA365948748STX11c.205A>G (p.Asn69Asp)
c.283A>G (p.Asn95Asp)
6g.144186832A>TCA365948749STX11c.205A>T (p.Asn69Tyr)
c.283A>T (p.Asn95Tyr)
6g.144186833A>CCA365948750STX11c.206A>C (p.Asn69Thr)
c.284A>C (p.Asn95Thr)
6g.144186833A>GCA365948751STX11c.206A>G (p.Asn69Ser)
c.284A>G (p.Asn95Ser)
6g.144186833A>TCA365948752STX11c.206A>T (p.Asn69Ile)
c.284A>T (p.Asn95Ile)
6g.144186834C>ACA4031652STX11c.207C>A (p.Asn69Lys)
c.285C>A (p.Asn95Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.144186834C=CA1669582529STX11c.207C= (p.Asn69=)
c.285C= (p.Asn95=)
6g.144186834C>GCA365948753STX11c.207C>G (p.Asn69Lys)
c.285C>G (p.Asn95Lys)
 ClinVar gnomAD v4
6g.144186834C>TCA452731025STX11c.207C>T (p.Asn69=)
c.285C>T (p.Asn95=)
 gnomAD v3 gnomAD v4 COSMIC
6g.144186835G>ACA365948754STX11c.208G>A (p.Ala70Thr)
c.286G>A (p.Ala96Thr)
 gnomAD v4 COSMIC
6g.144186835G>CCA365948755STX11c.208G>C (p.Ala70Pro)
c.286G>C (p.Ala96Pro)
6g.144186835G>TCA365948756STX11c.208G>T (p.Ala70Ser)
c.286G>T (p.Ala96Ser)
6g.144186836C>ACA365948757STX11c.209C>A (p.Ala70Asp)
c.287C>A (p.Ala96Asp)
6g.144186836C>GCA365948758STX11c.209C>G (p.Ala70Gly)
c.287C>G (p.Ala96Gly)
6g.144186836C>TCA365948759STX11c.209C>T (p.Ala70Val)
c.287C>T (p.Ala96Val)
6g.144186837C>ACA452731029STX11c.210C>A (p.Ala70=)
c.288C>A (p.Ala96=)
6g.144186837C=CA1669582530STX11c.210C= (p.Ala70=)
c.288C= (p.Ala96=)
6g.144186837C>GCA452731031STX11c.210C>G (p.Ala70=)
c.288C>G (p.Ala96=)
6g.144186837C>TCA149823928STX11c.210C>T (p.Ala70=)
c.288C>T (p.Ala96=)
 dbSNP gnomAD v3 gnomAD v4
6g.144186838C>ACA365948760STX11c.211C>A (p.Arg71Ser)
c.289C>A (p.Arg97Ser)
6g.144186838C=CA1669582531STX11c.211C= (p.Arg71=)
c.289C= (p.Arg97=)
6g.144186838C>GCA365948761STX11c.211C>G (p.Arg71Gly)
c.289C>G (p.Arg97Gly)
 gnomAD v4
6g.144186838C>TCA365948762STX11c.211C>T (p.Arg71Cys)
c.289C>T (p.Arg97Cys)
 dbSNP gnomAD v2 gnomAD v4
6g.144186839G>ACA149823929STX11c.212G>A (p.Arg71His)
c.290G>A (p.Arg97His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.144186839G>CCA365948763STX11c.212G>C (p.Arg71Pro)
c.290G>C (p.Arg97Pro)
6g.144186839G=CA1669582532STX11c.212G= (p.Arg71=)
c.290G= (p.Arg97=)
6g.144186839G>TCA365948764STX11c.212G>T (p.Arg71Leu)
c.290G>T (p.Arg97Leu)
6g.144186840C>ACA452731033STX11c.213C>A (p.Arg71=)
c.291C>A (p.Arg97=)
6g.144186840C=CA1669582533STX11c.213C= (p.Arg71=)
c.291C= (p.Arg97=)
6g.144186840C>GCA452731034STX11c.213C>G (p.Arg71=)
c.291C>G (p.Arg97=)
6g.144186840C>TCA4031653STX11c.213C>T (p.Arg71=)
c.291C>T (p.Arg97=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.144186841T>ACA365948765STX11c.214T>A (p.Phe72Ile)
c.292T>A (p.Phe98Ile)
6g.144186841T>CCA4031654STX11c.214T>C (p.Phe72Leu)
c.292T>C (p.Phe98Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.144186841T>GCA365948766STX11c.214T>G (p.Phe72Val)
c.292T>G (p.Phe98Val)
6g.144186841T=CA1669582534STX11c.214T= (p.Phe72=)
c.292T= (p.Phe98=)
6g.144186842T>ACA365948767STX11c.215T>A (p.Phe72Tyr)
c.293T>A (p.Phe98Tyr)
6g.144186842T>CCA365948768STX11c.215T>C (p.Phe72Ser)
c.293T>C (p.Phe98Ser)
6g.144186842T>GCA365948769STX11c.215T>G (p.Phe72Cys)
c.293T>G (p.Phe98Cys)
6g.144186843C>ACA365948770STX11c.216C>A (p.Phe72Leu)
c.294C>A (p.Phe98Leu)
6g.144186843C=CA1669582535STX11c.216C= (p.Phe72=)
c.294C= (p.Phe98=)
6g.144186843C>GCA365948771STX11c.216C>G (p.Phe72Leu)
c.294C>G (p.Phe98Leu)
6g.144186843C>TCA452731038STX11c.216C>T (p.Phe72=)
c.294C>T (p.Phe98=)
 dbSNP gnomAD v3 gnomAD v4
6g.144186844C>ACA365948772STX11c.217C>A (p.Leu73Ile)
c.295C>A (p.Leu99Ile)
6g.144186844C>GCA365948773STX11c.217C>G (p.Leu73Val)
c.295C>G (p.Leu99Val)
 gnomAD v4
6g.144186844C>TCA365948774STX11c.217C>T (p.Leu73Phe)
c.295C>T (p.Leu99Phe)
6g.144186845T>ACA365948775STX11c.218T>A (p.Leu73His)
c.296T>A (p.Leu99His)
 gnomAD v4
6g.144186845T>CCA365948776STX11c.218T>C (p.Leu73Pro)
c.296T>C (p.Leu99Pro)
6g.144186845T>GCA365948777STX11c.218T>G (p.Leu73Arg)
c.296T>G (p.Leu99Arg)
6g.144186846C>ACA452731043STX11c.219C>A (p.Leu73=)
c.297C>A (p.Leu99=)
6g.144186846C>GCA452731044STX11c.219C>G (p.Leu73=)
c.297C>G (p.Leu99=)
6g.144186846C>TCA452731045STX11c.219C>T (p.Leu73=)
c.297C>T (p.Leu99=)
6g.144186847A=CA1669582536STX11c.220A= (p.Thr74=)
c.298A= (p.Thr100=)
6g.144186847A>CCA365948780STX11c.220A>C (p.Thr74Pro)
c.298A>C (p.Thr100Pro)
6g.144186847A>GCA365948779STX11c.220A>G (p.Thr74Ala)
c.298A>G (p.Thr100Ala)
6g.144186847A>TCA365948778STX11c.220A>T (p.Thr74Ser)
c.298A>T (p.Thr100Ser)
 dbSNP
6g.144186848C>ACA365948781STX11c.221C>A (p.Thr74Lys)
c.299C>A (p.Thr100Lys)
6g.144186848C=CA1669582537STX11c.221C= (p.Thr74=)
c.299C= (p.Thr100=)
6g.144186848C>GCA365948782STX11c.221C>G (p.Thr74Arg)
c.299C>G (p.Thr100Arg)
 dbSNP gnomAD v4
6g.144186848C>TCA4031655STX11c.221C>T (p.Thr74Met)
c.299C>T (p.Thr100Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.144186849G>ACA452731048STX11c.222G>A (p.Thr74=)
c.300G>A (p.Thr100=)
 ClinVar dbSNP
6g.144186849G>CCA452731049STX11c.222G>C (p.Thr74=)
c.300G>C (p.Thr100=)
6g.144186849G>TCA452731050STX11c.222G>T (p.Thr74=)
c.300G>T (p.Thr100=)
6g.144186850T>ACA365948783STX11c.223T>A (p.Ser75Thr)
c.301T>A (p.Ser101Thr)
6g.144186850T>CCA365948784STX11c.223T>C (p.Ser75Pro)
c.301T>C (p.Ser101Pro)
6g.144186850T>GCA365948785STX11c.223T>G (p.Ser75Ala)
c.301T>G (p.Ser101Ala)
6g.144186851C>ACA365948786STX11c.224C>A (p.Ser75Tyr)
c.302C>A (p.Ser101Tyr)
6g.144186851C=CA1669582538STX11c.224C= (p.Ser75=)
c.302C= (p.Ser101=)
6g.144186851C>GCA365948787STX11c.224C>G (p.Ser75Cys)
c.302C>G (p.Ser101Cys)
 dbSNP gnomAD v3 gnomAD v4
6g.144186851C>TCA365948788STX11c.224C>T (p.Ser75Phe)
c.302C>T (p.Ser101Phe)
 gnomAD v4
6g.144186852C>ACA452731055STX11c.225C>A (p.Ser75=)
c.303C>A (p.Ser101=)
 gnomAD v4
6g.144186852C>GCA452731056STX11c.225C>G (p.Ser75=)
c.303C>G (p.Ser101=)
6g.144186852C>TCA452731057STX11c.225C>T (p.Ser75=)
c.303C>T (p.Ser101=)
6g.144186853A>CCA365948789STX11c.226A>C (p.Met76Leu)
c.304A>C (p.Met102Leu)
6g.144186853A>GCA365948790STX11c.226A>G (p.Met76Val)
c.304A>G (p.Met102Val)
6g.144186853A>TCA365948791STX11c.226A>T (p.Met76Leu)
c.304A>T (p.Met102Leu)
6g.144186854T>ACA365948793STX11c.227T>A (p.Met76Lys)
c.305T>A (p.Met102Lys)
6g.144186854T>CCA365948794STX11c.227T>C (p.Met76Thr)
c.305T>C (p.Met102Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.144186854T>GCA365948792STX11c.227T>G (p.Met76Arg)
c.305T>G (p.Met102Arg)
6g.144186854T=CA1669582539STX11c.227T= (p.Met76=)
c.305T= (p.Met102=)
6g.144186855G>ACA365948796STX11c.228G>A (p.Met76Ile)
c.306G>A (p.Met102Ile)
6g.144186855G>CCA4031656STX11c.228G>C (p.Met76Ile)
c.306G>C (p.Met102Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.144186855G=CA1669582540STX11c.228G= (p.Met76=)
c.306G= (p.Met102=)
6g.144186855G>TCA365948795STX11c.228G>T (p.Met76Ile)
c.306G>T (p.Met102Ile)
6g.144186856C>ACA452731071STX11c.229C>A (p.Arg77=)
c.307C>A (p.Arg103=)
 ClinVar dbSNP gnomAD v4
6g.144186856C=CA1669582541STX11c.229C= (p.Arg77=)
c.307C= (p.Arg103=)
6g.144186856C>GCA365948797STX11c.229C>G (p.Arg77Gly)
c.307C>G (p.Arg103Gly)
6g.144186856C>TCA4031657STX11c.229C>T (p.Arg77Trp)
c.307C>T (p.Arg103Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched