Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.69534654T>CCA813550018OCLNc.892-40T>C (n.892-40T>C)
c.730-40T>C (n.730-40T>C)
c.*68-40T>C (n.*68-40T>C)
c.139-40T>C (n.139-40T>C)
 dbSNP gnomAD v3 gnomAD v4
5g.69534654T=CA1553964459OCLNc.892-40T= (n.892-40T=)
c.730-40T= (n.730-40T=)
c.*68-40T= (n.*68-40T=)
c.139-40T= (n.139-40T=)
5g.69534656A=CA1553964460OCLNc.892-38A= (n.892-38A=)
c.730-38A= (n.730-38A=)
c.*68-38A= (n.*68-38A=)
c.139-38A= (n.139-38A=)
5g.69534656A>GCA1553964461OCLNc.892-38A>G (n.892-38A>G)
c.730-38A>G (n.730-38A>G)
c.*68-38A>G (n.*68-38A>G)
c.139-38A>G (n.139-38A>G)
 dbSNP
5g.69534657C>ACA2578329609OCLNc.892-37C>A (n.892-37C>A)
c.730-37C>A (n.730-37C>A)
c.*68-37C>A (n.*68-37C>A)
c.139-37C>A (n.139-37C>A)
 gnomAD v4
5g.69534657C>TCA2674136469OCLNc.892-37C>T (n.892-37C>T)
c.730-37C>T (n.730-37C>T)
c.*68-37C>T (n.*68-37C>T)
c.139-37C>T (n.139-37C>T)
 gnomAD v4
5g.69534659dupCA2843180414OCLNc.892-35dup (n.892-35dup)
c.730-35dup (n.730-35dup)
c.*68-35dup (n.*68-35dup)
c.139-35dup (n.139-35dup)
5g.69534659A>TCA2674136470OCLNc.892-35A>T (n.892-35A>T)
c.730-35A>T (n.730-35A>T)
c.*68-35A>T (n.*68-35A>T)
c.139-35A>T (n.139-35A>T)
 gnomAD v4
5g.69534660G>TCA2674136471OCLNc.892-34G>T (n.892-34G>T)
c.730-34G>T (n.730-34G>T)
c.*68-34G>T (n.*68-34G>T)
c.139-34G>T (n.139-34G>T)
 gnomAD v4
5g.69534661delCA2674136472OCLNc.892-33del (n.892-33del)
c.730-33del (n.730-33del)
c.*68-33del (n.*68-33del)
c.139-33del (n.139-33del)
 gnomAD v4
5g.69534661A=CA1553964462OCLNc.892-33A= (n.892-33A=)
c.730-33A= (n.730-33A=)
c.*68-33A= (n.*68-33A=)
c.139-33A= (n.139-33A=)
5g.69534661A>GCA1077228860OCLNc.892-33A>G (n.892-33A>G)
c.730-33A>G (n.730-33A>G)
c.*68-33A>G (n.*68-33A>G)
c.139-33A>G (n.139-33A>G)
 dbSNP gnomAD v3 gnomAD v4
5g.69534662T>GCA2674136473OCLNc.892-32T>G (n.892-32T>G)
c.730-32T>G (n.730-32T>G)
c.*68-32T>G (n.*68-32T>G)
c.139-32T>G (n.139-32T>G)
 gnomAD v4
5g.69534663A>GCA2674136474OCLNc.892-31A>G (n.892-31A>G)
c.730-31A>G (n.730-31A>G)
c.*68-31A>G (n.*68-31A>G)
c.139-31A>G (n.139-31A>G)
 gnomAD v4
5g.69534664A>CCA2674136475OCLNc.892-30A>C (n.892-30A>C)
c.730-30A>C (n.730-30A>C)
c.*68-30A>C (n.*68-30A>C)
c.139-30A>C (n.139-30A>C)
 gnomAD v4
5g.69534665A>TCA2674136477OCLNc.892-29A>T (n.892-29A>T)
c.730-29A>T (n.730-29A>T)
c.*68-29A>T (n.*68-29A>T)
c.139-29A>T (n.139-29A>T)
 gnomAD v4
5g.69534666_69534667dupCA2674136476OCLNc.892-28_892-27dup (n.892-28_892-27dup)
c.730-28_730-27dup (n.730-28_730-27dup)
c.*68-28_*68-27dup (n.*68-28_*68-27dup)
c.139-28_139-27dup (n.139-28_139-27dup)
 gnomAD v4
5g.69534668A=CA1553964463OCLNc.892-26A= (n.892-26A=)
c.730-26A= (n.730-26A=)
c.*68-26A= (n.*68-26A=)
c.139-26A= (n.139-26A=)
5g.69534668A>GCA3294539OCLNc.892-26A>G (n.892-26A>G)
c.730-26A>G (n.730-26A>G)
c.*68-26A>G (n.*68-26A>G)
c.139-26A>G (n.139-26A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.69534669T>ACA2674136478OCLNc.892-25T>A (n.892-25T>A)
c.730-25T>A (n.730-25T>A)
c.*68-25T>A (n.*68-25T>A)
c.139-25T>A (n.139-25T>A)
 gnomAD v4
5g.69534671A=CA1553964464OCLNc.892-23A= (n.892-23A=)
c.730-23A= (n.730-23A=)
c.*68-23A= (n.*68-23A=)
c.139-23A= (n.139-23A=)
5g.69534671A>GCA813550020OCLNc.892-23A>G (n.892-23A>G)
c.730-23A>G (n.730-23A>G)
c.*68-23A>G (n.*68-23A>G)
c.139-23A>G (n.139-23A>G)
 dbSNP gnomAD v4
5g.69534672C>ACA2578329610OCLNc.892-22C>A (n.892-22C>A)
c.730-22C>A (n.730-22C>A)
c.*68-22C>A (n.*68-22C>A)
c.139-22C>A (n.139-22C>A)
 gnomAD v3 gnomAD v4
5g.69534672C=CA1553964465OCLNc.892-22C= (n.892-22C=)
c.730-22C= (n.730-22C=)
c.*68-22C= (n.*68-22C=)
c.139-22C= (n.139-22C=)
5g.69534672C>GCA813550026OCLNc.892-22C>G (n.892-22C>G)
c.730-22C>G (n.730-22C>G)
c.*68-22C>G (n.*68-22C>G)
c.139-22C>G (n.139-22C>G)
 dbSNP gnomAD v3 gnomAD v4
5g.69534674A>CCA2674136479OCLNc.892-20A>C (n.892-20A>C)
c.730-20A>C (n.730-20A>C)
c.*68-20A>C (n.*68-20A>C)
c.139-20A>C (n.139-20A>C)
 gnomAD v4
5g.69534675T>ACA2674136480OCLNc.892-19T>A (n.892-19T>A)
c.730-19T>A (n.730-19T>A)
c.*68-19T>A (n.*68-19T>A)
c.139-19T>A (n.139-19T>A)
 gnomAD v4
5g.69534675T>CCA2578329611OCLNc.892-19T>C (n.892-19T>C)
c.730-19T>C (n.730-19T>C)
c.*68-19T>C (n.*68-19T>C)
c.139-19T>C (n.139-19T>C)
 gnomAD v4
5g.69534676C>ACA2674136481OCLNc.892-18C>A (n.892-18C>A)
c.730-18C>A (n.730-18C>A)
c.*68-18C>A (n.*68-18C>A)
c.139-18C>A (n.139-18C>A)
 gnomAD v4
5g.69534678C>TCA2674136482OCLNc.892-16C>T (n.892-16C>T)
c.730-16C>T (n.730-16C>T)
c.*68-16C>T (n.*68-16C>T)
c.139-16C>T (n.139-16C>T)
 gnomAD v4
5g.69534679T>CCA3294540OCLNc.892-15T>C (n.892-15T>C)
c.730-15T>C (n.730-15T>C)
c.*68-15T>C (n.*68-15T>C)
c.139-15T>C (n.139-15T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.69534679T=CA1553964466OCLNc.892-15T= (n.892-15T=)
c.730-15T= (n.730-15T=)
c.*68-15T= (n.*68-15T=)
c.139-15T= (n.139-15T=)
5g.69534680_69534681delinsTGCA1553964467OCLNc.892-14_892-13delinsTG (n.892-14_892-13delinsTG)
c.730-14_730-13delinsTG (n.730-14_730-13delinsTG)
c.*68-14_*68-13delinsTG (n.*68-14_*68-13delinsTG)
c.139-14_139-13delinsTG (n.139-14_139-13delinsTG)
5g.69534681G>TCA1077228878OCLNc.892-13G>T (n.892-13G>T)
c.730-13G>T (n.730-13G>T)
c.*68-13G>T (n.*68-13G>T)
c.139-13G>T (n.139-13G>T)
 gnomAD v3 gnomAD v4
5g.69534684delCA3294541OCLNc.892-10del (n.892-10del)
c.730-10del (n.730-10del)
c.*68-10del (n.*68-10del)
c.139-10del (n.139-10del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.69534682G>ACA2674136483OCLNc.892-12G>A (n.892-12G>A)
c.730-12G>A (n.730-12G>A)
c.*68-12G>A (n.*68-12G>A)
c.139-12G>A (n.139-12G>A)
 gnomAD v4
5g.69534682G>TCA1077228882OCLNc.892-12G>T (n.892-12G>T)
c.730-12G>T (n.730-12G>T)
c.*68-12G>T (n.*68-12G>T)
c.139-12G>T (n.139-12G>T)
 gnomAD v3 gnomAD v4
5g.69534683G>ACA560251802OCLNc.892-11G>A (n.892-11G>A)
c.730-11G>A (n.730-11G>A)
c.*68-11G>A (n.*68-11G>A)
c.139-11G>A (n.139-11G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.69534683G=CA1553964468OCLNc.892-11G= (n.892-11G=)
c.730-11G= (n.730-11G=)
c.*68-11G= (n.*68-11G=)
c.139-11G= (n.139-11G=)
5g.69534683G>TCA1077228889OCLNc.892-11G>T (n.892-11G>T)
c.730-11G>T (n.730-11G>T)
c.*68-11G>T (n.*68-11G>T)
c.139-11G>T (n.139-11G>T)
 gnomAD v3 gnomAD v4
5g.69534684G=CA1553964469OCLNc.892-10G= (n.892-10G=)
c.730-10G= (n.730-10G=)
c.*68-10G= (n.*68-10G=)
c.139-10G= (n.139-10G=)
5g.69534684G>TCA1077228890OCLNc.892-10G>T (n.892-10G>T)
c.730-10G>T (n.730-10G>T)
c.*68-10G>T (n.*68-10G>T)
c.139-10G>T (n.139-10G>T)
 gnomAD v3 gnomAD v4
5g.69534685T>CCA2709173036OCLNc.892-9T>C (n.892-9T>C)
c.730-9T>C (n.730-9T>C)
c.*68-9T>C (n.*68-9T>C)
c.139-9T>C (n.139-9T>C)
 dbSNP
5g.69534690dupCA1553964470OCLNc.892-4dup (n.892-4dup)
c.730-4dup (n.730-4dup)
c.*68-4dup (n.*68-4dup)
c.139-4dup (n.139-4dup)
 dbSNP
5g.69534690delCA444854755OCLNc.892-4del (n.892-4del)
c.730-4del (n.730-4del)
c.*68-4del (n.*68-4del)
c.139-4del (n.139-4del)
 gnomAD v4 COSMIC
5g.69534687T>CCA3294542OCLNc.892-7T>C (n.892-7T>C)
c.730-7T>C (n.730-7T>C)
c.*68-7T>C (n.*68-7T>C)
c.139-7T>C (n.139-7T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.69534687T=CA1553964471OCLNc.892-7T= (n.892-7T=)
c.730-7T= (n.730-7T=)
c.*68-7T= (n.*68-7T=)
c.139-7T= (n.139-7T=)
5g.69534689T>CCA2674136484OCLNc.892-5T>C (n.892-5T>C)
c.730-5T>C (n.730-5T>C)
c.*68-5T>C (n.*68-5T>C)
c.139-5T>C (n.139-5T>C)
 gnomAD v4
5g.69534689T>GCA560251806OCLNc.892-5T>G (n.892-5T>G)
c.730-5T>G (n.730-5T>G)
c.*68-5T>G (n.*68-5T>G)
c.139-5T>G (n.139-5T>G)
 dbSNP gnomAD v2 gnomAD v4
5g.69534689T=CA1553964472OCLNc.892-5T= (n.892-5T=)
c.730-5T= (n.730-5T=)
c.*68-5T= (n.*68-5T=)
c.139-5T= (n.139-5T=)
5g.69534690T>ACA2674136485OCLNc.892-4T>A (n.892-4T>A)
c.730-4T>A (n.730-4T>A)
c.*68-4T>A (n.*68-4T>A)
c.139-4T>A (n.139-4T>A)
 gnomAD v4
5g.69534691A>CCA1077228893OCLNc.892-3A>C (n.892-3A>C)
c.730-3A>C (n.730-3A>C)
c.*68-3A>C (n.*68-3A>C)
c.139-3A>C (n.139-3A>C)
 gnomAD v3 gnomAD v4
5g.69534691A>TCA1077228896OCLNc.892-3A>T (n.892-3A>T)
c.730-3A>T (n.730-3A>T)
c.*68-3A>T (n.*68-3A>T)
c.139-3A>T (n.139-3A>T)
 gnomAD v3 gnomAD v4
5g.69534691_69534694delCA2766867432OCLNc.892-3_892del
c.730-3_730del
c.*68-3_*68del
c.139-3_139del
5g.69534692A>CCA360066345OCLNc.892-2A>C (n.892-2A>C)
c.730-2A>C (n.730-2A>C)
c.*68-2A>C (n.*68-2A>C)
c.139-2A>C (n.139-2A>C)
5g.69534692A>GCA360066343OCLNc.892-2A>G (n.892-2A>G)
c.730-2A>G (n.730-2A>G)
c.*68-2A>G (n.*68-2A>G)
c.139-2A>G (n.139-2A>G)
5g.69534692A>TCA360066341OCLNc.892-2A>T (n.892-2A>T)
c.730-2A>T (n.730-2A>T)
c.*68-2A>T (n.*68-2A>T)
c.139-2A>T (n.139-2A>T)
5g.69534693G>ACA360066347OCLNc.892-1G>A (n.892-1G>A)
c.730-1G>A (n.730-1G>A)
c.*68-1G>A (n.*68-1G>A)
c.139-1G>A (n.139-1G>A)
5g.69534693G>CCA360066348OCLNc.892-1G>C (n.892-1G>C)
c.730-1G>C (n.730-1G>C)
c.*68-1G>C (n.*68-1G>C)
c.139-1G>C (n.139-1G>C)
5g.69534693G>TCA360066350OCLNc.892-1G>T (n.892-1G>T)
c.730-1G>T (n.730-1G>T)
c.*68-1G>T (n.*68-1G>T)
c.139-1G>T (n.139-1G>T)
 gnomAD v3 gnomAD v4
5g.69534694G>ACA360066353OCLNc.892G>A (p.Val298Ile)
c.730G>A (p.Val244Ile)
c.*68G>A (n.*68G>A)
c.139G>A (p.Val47Ile)
5g.69534694G>CCA360066355OCLNc.892G>C (p.Val298Leu)
c.730G>C (p.Val244Leu)
c.*68G>C (n.*68G>C)
c.139G>C (p.Val47Leu)
 gnomAD v4
5g.69534694G>TCA360066357OCLNc.892G>T (p.Val298Phe)
c.730G>T (p.Val244Phe)
c.*68G>T (n.*68G>T)
c.139G>T (p.Val47Phe)
 gnomAD v3 gnomAD v4
5g.69534695T>ACA360066360OCLNc.893T>A (p.Val298Asp)
c.731T>A (p.Val244Asp)
c.*69T>A (n.*69T>A)
c.140T>A (p.Val47Asp)
5g.69534695T>CCA360066363OCLNc.893T>C (p.Val298Ala)
c.731T>C (p.Val244Ala)
c.*69T>C (n.*69T>C)
c.140T>C (p.Val47Ala)
 gnomAD v4
5g.69534695T>GCA360066362OCLNc.893T>G (p.Val298Gly)
c.731T>G (p.Val244Gly)
c.*69T>G (n.*69T>G)
c.140T>G (p.Val47Gly)
5g.69534696T>ACA444854788OCLNc.894T>A (p.Val298=)
c.732T>A (p.Val244=)
c.*70T>A (n.*70T>A)
c.141T>A (p.Val47=)
5g.69534696T>CCA444854789OCLNc.894T>C (p.Val298=)
c.732T>C (p.Val244=)
c.*70T>C (n.*70T>C)
c.141T>C (p.Val47=)
5g.69534696T>GCA444854794OCLNc.894T>G (p.Val298=)
c.732T>G (p.Val244=)
c.*70T>G (n.*70T>G)
c.141T>G (p.Val47=)
5g.69534697A=CA1553964473OCLNc.895A= (p.Lys299=)
c.733A= (p.Lys245=)
c.*71A= (n.*71A=)
c.142A= (p.Lys48=)
5g.69534697A>CCA360066365OCLNc.895A>C (p.Lys299Gln)
c.733A>C (p.Lys245Gln)
c.*71A>C (n.*71A>C)
c.142A>C (p.Lys48Gln)
5g.69534697A>GCA3294543OCLNc.895A>G (p.Lys299Glu)
c.733A>G (p.Lys245Glu)
c.*71A>G (n.*71A>G)
c.142A>G (p.Lys48Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.69534697A>TCA360066367OCLNc.895A>T (p.Lys299Ter)
c.733A>T (p.Lys245Ter)
c.*71A>T (n.*71A>T)
c.142A>T (p.Lys48Ter)
5g.69534701delCA2578329612OCLNc.899del (p.Asn300MetfsTer?)
c.737del (p.Asn246MetfsTer?)
c.*75del (n.*75del)
c.146del (p.Asn49MetfsTer?)
 gnomAD v4
5g.69534700_69534701delCA2674136486OCLNc.898_899del (p.Asn300CysfsTer14)
c.736_737del (p.Asn246CysfsTer14)
c.*74_*75del (n.*74_*75del)
c.145_146del (p.Asn49CysfsTer14)
 gnomAD v4
5g.69534698_69534701delCA2766867433OCLNc.896_899del (p.Lys299MetfsTer?)
c.734_737del (p.Lys245MetfsTer?)
c.*72_*75del (n.*72_*75del)
c.143_146del (p.Lys48MetfsTer?)
5g.69534698A>CCA360066369OCLNc.896A>C (p.Lys299Thr)
c.734A>C (p.Lys245Thr)
c.*72A>C (n.*72A>C)
c.143A>C (p.Lys48Thr)
 gnomAD v4
5g.69534698A>GCA360066371OCLNc.896A>G (p.Lys299Arg)
c.734A>G (p.Lys245Arg)
c.*72A>G (n.*72A>G)
c.143A>G (p.Lys48Arg)
 dbSNP
5g.69534698A>TCA360066373OCLNc.896A>T (p.Lys299Ile)
c.734A>T (p.Lys245Ile)
c.*72A>T (n.*72A>T)
c.143A>T (p.Lys48Ile)
5g.69534699A>CCA360066375OCLNc.897A>C (p.Lys299Asn)
c.735A>C (p.Lys245Asn)
c.*73A>C (n.*73A>C)
c.144A>C (p.Lys48Asn)
5g.69534699A>GCA444854812OCLNc.897A>G (p.Lys299=)
c.735A>G (p.Lys245=)
c.*73A>G (n.*73A>G)
c.144A>G (p.Lys48=)
5g.69534699A>TCA360066377OCLNc.897A>T (p.Lys299Asn)
c.735A>T (p.Lys245Asn)
c.*73A>T (n.*73A>T)
c.144A>T (p.Lys48Asn)
 COSMIC
5g.69534700A>CCA360066379OCLNc.898A>C (p.Asn300His)
c.736A>C (p.Asn246His)
c.*74A>C (n.*74A>C)
c.145A>C (p.Asn49His)
5g.69534700A>GCA360066381OCLNc.898A>G (p.Asn300Asp)
c.736A>G (p.Asn246Asp)
c.*74A>G (n.*74A>G)
c.145A>G (p.Asn49Asp)
5g.69534700A>TCA360066383OCLNc.898A>T (p.Asn300Tyr)
c.736A>T (p.Asn246Tyr)
c.*74A>T (n.*74A>T)
c.145A>T (p.Asn49Tyr)
5g.69534701A>CCA360066387OCLNc.899A>C (p.Asn300Thr)
c.737A>C (p.Asn246Thr)
c.*75A>C (n.*75A>C)
c.146A>C (p.Asn49Thr)
5g.69534701A>GCA360066388OCLNc.899A>G (p.Asn300Ser)
c.737A>G (p.Asn246Ser)
c.*75A>G (n.*75A>G)
c.146A>G (p.Asn49Ser)
5g.69534701A>TCA360066384OCLNc.899A>T (p.Asn300Ile)
c.737A>T (p.Asn246Ile)
c.*75A>T (n.*75A>T)
c.146A>T (p.Asn49Ile)
5g.69534702T>ACA360066391OCLNc.900T>A (p.Asn300Lys)
c.738T>A (p.Asn246Lys)
c.*76T>A (n.*76T>A)
c.147T>A (p.Asn49Lys)
5g.69534702T>CCA444854826OCLNc.900T>C (p.Asn300=)
c.738T>C (p.Asn246=)
c.*76T>C (n.*76T>C)
c.147T>C (p.Asn49=)
5g.69534702T>GCA360066389OCLNc.900T>G (p.Asn300Lys)
c.738T>G (p.Asn246Lys)
c.*76T>G (n.*76T>G)
c.147T>G (p.Asn49Lys)
5g.69534703G>ACA360066394OCLNc.901G>A (p.Val301Met)
c.739G>A (p.Val247Met)
c.*77G>A (n.*77G>A)
c.148G>A (p.Val50Met)
 dbSNP gnomAD v3 gnomAD v4
5g.69534703G>CCA360066395OCLNc.901G>C (p.Val301Leu)
c.739G>C (p.Val247Leu)
c.*77G>C (n.*77G>C)
c.148G>C (p.Val50Leu)
5g.69534703G=CA1553964474OCLNc.901G= (p.Val301=)
c.739G= (p.Val247=)
c.*77G= (n.*77G=)
c.148G= (p.Val50=)
5g.69534703G>TCA360066397OCLNc.901G>T (p.Val301Leu)
c.739G>T (p.Val247Leu)
c.*77G>T (n.*77G>T)
c.148G>T (p.Val50Leu)
 gnomAD v4
5g.69534704T>ACA360066400OCLNc.902T>A (p.Val301Glu)
c.740T>A (p.Val247Glu)
c.*78T>A (n.*78T>A)
c.149T>A (p.Val50Glu)
5g.69534704T>CCA360066402OCLNc.902T>C (p.Val301Ala)
c.740T>C (p.Val247Ala)
c.*78T>C (n.*78T>C)
c.149T>C (p.Val50Ala)
 gnomAD v4
5g.69534704T>GCA360066403OCLNc.902T>G (p.Val301Gly)
c.740T>G (p.Val247Gly)
c.*78T>G (n.*78T>G)
c.149T>G (p.Val50Gly)
5g.69534705G>ACA444854844OCLNc.903G>A (p.Val301=)
c.741G>A (p.Val247=)
c.*79G>A (n.*79G>A)
c.150G>A (p.Val50=)
5g.69534705G>CCA444854846OCLNc.903G>C (p.Val301=)
c.741G>C (p.Val247=)
c.*79G>C (n.*79G>C)
c.150G>C (p.Val50=)
5g.69534705G>TCA444854850OCLNc.903G>T (p.Val301=)
c.741G>T (p.Val247=)
c.*79G>T (n.*79G>T)
c.150G>T (p.Val50=)
 gnomAD v4
5g.69534706T>ACA360066405OCLNc.904T>A (p.Ser302Thr)
c.742T>A (p.Ser248Thr)
c.*80T>A (n.*80T>A)
c.151T>A (p.Ser51Thr)
5g.69534706T>CCA360066406OCLNc.904T>C (p.Ser302Pro)
c.742T>C (p.Ser248Pro)
c.*80T>C (n.*80T>C)
c.151T>C (p.Ser51Pro)
5g.69534706T>GCA360066408OCLNc.904T>G (p.Ser302Ala)
c.742T>G (p.Ser248Ala)
c.*80T>G (n.*80T>G)
c.151T>G (p.Ser51Ala)
5g.69534707C>ACA360066411OCLNc.905C>A (p.Ser302Tyr)
c.743C>A (p.Ser248Tyr)
c.*81C>A (n.*81C>A)
c.152C>A (p.Ser51Tyr)
 gnomAD v4
5g.69534707C>GCA360066413OCLNc.905C>G (p.Ser302Cys)
c.743C>G (p.Ser248Cys)
c.*81C>G (n.*81C>G)
c.152C>G (p.Ser51Cys)
5g.69534707C>TCA360066414OCLNc.905C>T (p.Ser302Phe)
c.743C>T (p.Ser248Phe)
c.*81C>T (n.*81C>T)
c.152C>T (p.Ser51Phe)
5g.69534708T>ACA444854861OCLNc.906T>A (p.Ser302=)
c.744T>A (p.Ser248=)
c.*82T>A (n.*82T>A)
c.153T>A (p.Ser51=)
5g.69534708T>CCA444854866OCLNc.906T>C (p.Ser302=)
c.744T>C (p.Ser248=)
c.*82T>C (n.*82T>C)
c.153T>C (p.Ser51=)
5g.69534708T>GCA444854863OCLNc.906T>G (p.Ser302=)
c.744T>G (p.Ser248=)
c.*82T>G (n.*82T>G)
c.153T>G (p.Ser51=)
5g.69534709G>ACA360066421OCLNc.907G>A (p.Ala303Thr)
c.745G>A (p.Ala249Thr)
c.*83G>A (n.*83G>A)
c.154G>A (p.Ala52Thr)
 gnomAD v4
5g.69534709G>CCA360066417OCLNc.907G>C (p.Ala303Pro)
c.745G>C (p.Ala249Pro)
c.*83G>C (n.*83G>C)
c.154G>C (p.Ala52Pro)
 gnomAD v4
5g.69534709G>TCA360066419OCLNc.907G>T (p.Ala303Ser)
c.745G>T (p.Ala249Ser)
c.*83G>T (n.*83G>T)
c.154G>T (p.Ala52Ser)
 gnomAD v4
5g.69534710C>ACA360066423OCLNc.908C>A (p.Ala303Glu)
c.746C>A (p.Ala249Glu)
c.*84C>A (n.*84C>A)
c.155C>A (p.Ala52Glu)
 gnomAD v4
5g.69534710C>GCA360066425OCLNc.908C>G (p.Ala303Gly)
c.746C>G (p.Ala249Gly)
c.*84C>G (n.*84C>G)
c.155C>G (p.Ala52Gly)
5g.69534710C>TCA360066427OCLNc.908C>T (p.Ala303Val)
c.746C>T (p.Ala249Val)
c.*84C>T (n.*84C>T)
c.155C>T (p.Ala52Val)
 gnomAD v4
5g.69534711A>CCA444854877OCLNc.909A>C (p.Ala303=)
c.747A>C (p.Ala249=)
c.*85A>C (n.*85A>C)
c.156A>C (p.Ala52=)
5g.69534711A>GCA444854879OCLNc.909A>G (p.Ala303=)
c.747A>G (p.Ala249=)
c.*85A>G (n.*85A>G)
c.156A>G (p.Ala52=)
 gnomAD v4
5g.69534711A>TCA444854882OCLNc.909A>T (p.Ala303=)
c.747A>T (p.Ala249=)
c.*85A>T (n.*85A>T)
c.156A>T (p.Ala52=)
5g.69534712G>ACA360066429OCLNc.910G>A (p.Gly304Ser)
c.748G>A (p.Gly250Ser)
c.*86G>A (n.*86G>A)
c.157G>A (p.Gly53Ser)
5g.69534712G>CCA360066431OCLNc.910G>C (p.Gly304Arg)
c.748G>C (p.Gly250Arg)
c.*86G>C (n.*86G>C)
c.157G>C (p.Gly53Arg)
5g.69534712G>TCA360066434OCLNc.910G>T (p.Gly304Cys)
c.748G>T (p.Gly250Cys)
c.*86G>T (n.*86G>T)
c.157G>T (p.Gly53Cys)
 gnomAD v4
5g.69534713G>ACA360066436OCLNc.911G>A (p.Gly304Asp)
c.749G>A (p.Gly250Asp)
c.*87G>A (n.*87G>A)
c.158G>A (p.Gly53Asp)
 gnomAD v3 gnomAD v4
5g.69534713G>CCA360066438OCLNc.911G>C (p.Gly304Ala)
c.749G>C (p.Gly250Ala)
c.*87G>C (n.*87G>C)
c.158G>C (p.Gly53Ala)
5g.69534713G>TCA360066440OCLNc.911G>T (p.Gly304Val)
c.749G>T (p.Gly250Val)
c.*87G>T (n.*87G>T)
c.158G>T (p.Gly53Val)
 gnomAD v4
5g.69534714C>ACA444854893OCLNc.912C>A (p.Gly304=)
c.750C>A (p.Gly250=)
c.*88C>A (n.*88C>A)
c.159C>A (p.Gly53=)
5g.69534714C>GCA444854896OCLNc.912C>G (p.Gly304=)
c.750C>G (p.Gly250=)
c.*88C>G (n.*88C>G)
c.159C>G (p.Gly53=)
 gnomAD v4
5g.69534714C>TCA444854898OCLNc.912C>T (p.Gly304=)
c.750C>T (p.Gly250=)
c.*88C>T (n.*88C>T)
c.159C>T (p.Gly53=)
5g.69534715A>CCA360066443OCLNc.913A>C (p.Thr305Pro)
c.751A>C (p.Thr251Pro)
c.*89A>C (n.*89A>C)
c.160A>C (p.Thr54Pro)
5g.69534715A>GCA360066444OCLNc.913A>G (p.Thr305Ala)
c.751A>G (p.Thr251Ala)
c.*89A>G (n.*89A>G)
c.160A>G (p.Thr54Ala)
 gnomAD v4
5g.69534715A>TCA360066446OCLNc.913A>T (p.Thr305Ser)
c.751A>T (p.Thr251Ser)
c.*89A>T (n.*89A>T)
c.160A>T (p.Thr54Ser)
5g.69534716C>ACA360066453OCLNc.914C>A (p.Thr305Lys)
c.752C>A (p.Thr251Lys)
c.*90C>A (n.*90C>A)
c.161C>A (p.Thr54Lys)
5g.69534716C>GCA360066451OCLNc.914C>G (p.Thr305Arg)
c.752C>G (p.Thr251Arg)
c.*90C>G (n.*90C>G)
c.161C>G (p.Thr54Arg)
5g.69534716C>TCA360066449OCLNc.914C>T (p.Thr305Ile)
c.752C>T (p.Thr251Ile)
c.*90C>T (n.*90C>T)
c.161C>T (p.Thr54Ile)
5g.69534717A>CCA444854914OCLNc.915A>C (p.Thr305=)
c.753A>C (p.Thr251=)
c.*91A>C (n.*91A>C)
c.162A>C (p.Thr54=)
 dbSNP
5g.69534717A>GCA444854916OCLNc.915A>G (p.Thr305=)
c.753A>G (p.Thr251=)
c.*91A>G (n.*91A>G)
c.162A>G (p.Thr54=)
5g.69534717A>TCA444854917OCLNc.915A>T (p.Thr305=)
c.753A>T (p.Thr251=)
c.*91A>T (n.*91A>T)
c.162A>T (p.Thr54=)
5g.69534718C>ACA360066455OCLNc.916C>A (p.Gln306Lys)
c.754C>A (p.Gln252Lys)
c.*92C>A (n.*92C>A)
c.163C>A (p.Gln55Lys)
 gnomAD v4
5g.69534718C>GCA360066459OCLNc.916C>G (p.Gln306Glu)
c.754C>G (p.Gln252Glu)
c.*92C>G (n.*92C>G)
c.163C>G (p.Gln55Glu)
5g.69534718C>TCA360066457OCLNc.916C>T (p.Gln306Ter)
c.754C>T (p.Gln252Ter)
c.*92C>T (n.*92C>T)
c.163C>T (p.Gln55Ter)
 gnomAD v4
5g.69534719A>CCA360066462OCLNc.917A>C (p.Gln306Pro)
c.755A>C (p.Gln252Pro)
c.*93A>C (n.*93A>C)
c.164A>C (p.Gln55Pro)
5g.69534719A>GCA360066463OCLNc.917A>G (p.Gln306Arg)
c.755A>G (p.Gln252Arg)
c.*93A>G (n.*93A>G)
c.164A>G (p.Gln55Arg)
5g.69534719A>TCA360066464OCLNc.917A>T (p.Gln306Leu)
c.755A>T (p.Gln252Leu)
c.*93A>T (n.*93A>T)
c.164A>T (p.Gln55Leu)
5g.69534720G>ACA444854924OCLNc.918G>A (p.Gln306=)
c.756G>A (p.Gln252=)
c.*94G>A (n.*94G>A)
c.165G>A (p.Gln55=)
5g.69534720G>CCA360066466OCLNc.918G>C (p.Gln306His)
c.756G>C (p.Gln252His)
c.*94G>C (n.*94G>C)
c.165G>C (p.Gln55His)
5g.69534720G>TCA360066467OCLNc.918G>T (p.Gln306His)
c.756G>T (p.Gln252His)
c.*94G>T (n.*94G>T)
c.165G>T (p.Gln55His)
 gnomAD v4
5g.69534721G>ACA360066470OCLNc.919G>A (p.Asp307Asn)
c.757G>A (p.Asp253Asn)
c.*95G>A (n.*95G>A)
c.166G>A (p.Asp56Asn)
 gnomAD v4
5g.69534721G>CCA360066471OCLNc.919G>C (p.Asp307His)
c.757G>C (p.Asp253His)
c.*95G>C (n.*95G>C)
c.166G>C (p.Asp56His)
5g.69534721G>TCA360066473OCLNc.919G>T (p.Asp307Tyr)
c.757G>T (p.Asp253Tyr)
c.*95G>T (n.*95G>T)
c.166G>T (p.Asp56Tyr)
5g.69534722A>CCA360066474OCLNc.920A>C (p.Asp307Ala)
c.758A>C (p.Asp253Ala)
c.*96A>C (n.*96A>C)
c.167A>C (p.Asp56Ala)
5g.69534722A>GCA360066476OCLNc.920A>G (p.Asp307Gly)
c.758A>G (p.Asp253Gly)
c.*96A>G (n.*96A>G)
c.167A>G (p.Asp56Gly)
5g.69534722A>TCA360066477OCLNc.920A>T (p.Asp307Val)
c.758A>T (p.Asp253Val)
c.*96A>T (n.*96A>T)
c.167A>T (p.Asp56Val)
5g.69534723C>ACA360066482OCLNc.921C>A (p.Asp307Glu)
c.759C>A (p.Asp253Glu)
c.*97C>A (n.*97C>A)
c.168C>A (p.Asp56Glu)
 gnomAD v4
5g.69534723C=CA1553964475OCLNc.921C= (p.Asp307=)
c.759C= (p.Asp253=)
c.*97C= (n.*97C=)
c.168C= (p.Asp56=)
5g.69534723C>GCA360066480OCLNc.921C>G (p.Asp307Glu)
c.759C>G (p.Asp253Glu)
c.*97C>G (n.*97C>G)
c.168C>G (p.Asp56Glu)
 gnomAD v4
5g.69534723C>TCA3294544OCLNc.921C>T (p.Asp307=)
c.759C>T (p.Asp253=)
c.*97C>T (n.*97C>T)
c.168C>T (p.Asp56=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.69534724G>ACA3294545OCLNc.922G>A (p.Val308Met)
c.760G>A (p.Val254Met)
c.*98G>A (n.*98G>A)
c.169G>A (p.Val57Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.69534724G>CCA3294546OCLNc.922G>C (p.Val308Leu)
c.760G>C (p.Val254Leu)
c.*98G>C (n.*98G>C)
c.169G>C (p.Val57Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.69534724G=CA1553964476OCLNc.922G= (p.Val308=)
c.760G= (p.Val254=)
c.*98G= (n.*98G=)
c.169G= (p.Val57=)
5g.69534724G>TCA360066486OCLNc.922G>T (p.Val308Leu)
c.760G>T (p.Val254Leu)
c.*98G>T (n.*98G>T)
c.169G>T (p.Val57Leu)
 gnomAD v3 gnomAD v4
5g.69534725T>ACA360066489OCLNc.923T>A (p.Val308Glu)
c.761T>A (p.Val254Glu)
c.*99T>A (n.*99T>A)
c.170T>A (p.Val57Glu)
5g.69534725T>CCA360066490OCLNc.923T>C (p.Val308Ala)
c.761T>C (p.Val254Ala)
c.*99T>C (n.*99T>C)
c.170T>C (p.Val57Ala)
5g.69534725T>GCA360066491OCLNc.923T>G (p.Val308Gly)
c.761T>G (p.Val254Gly)
c.*99T>G (n.*99T>G)
c.170T>G (p.Val57Gly)
5g.69534726G>ACA444854963OCLNc.924G>A (p.Val308=)
c.762G>A (p.Val254=)
c.*100G>A (n.*100G>A)
c.171G>A (p.Val57=)
 gnomAD v4
5g.69534726G>CCA444854965OCLNc.924G>C (p.Val308=)
c.762G>C (p.Val254=)
c.*100G>C (n.*100G>C)
c.171G>C (p.Val57=)
5g.69534726G=CA1553964477OCLNc.924G= (p.Val308=)
c.762G= (p.Val254=)
c.*100G= (n.*100G=)
c.171G= (p.Val57=)
5g.69534726G>TCA444854969OCLNc.924G>T (p.Val308=)
c.762G>T (p.Val254=)
c.*100G>T (n.*100G>T)
c.171G>T (p.Val57=)
 gnomAD v4
5g.69534727C>ACA360066494OCLNc.925C>A (p.Pro309Thr)
c.763C>A (p.Pro255Thr)
c.*101C>A (n.*101C>A)
c.172C>A (p.Pro58Thr)
 gnomAD v4
5g.69534727C>GCA360066495OCLNc.925C>G (p.Pro309Ala)
c.763C>G (p.Pro255Ala)
c.*101C>G (n.*101C>G)
c.172C>G (p.Pro58Ala)
5g.69534727C>TCA360066497OCLNc.925C>T (p.Pro309Ser)
c.763C>T (p.Pro255Ser)
c.*101C>T (n.*101C>T)
c.172C>T (p.Pro58Ser)
 gnomAD v4
5g.69534728dupCA1553964478OCLNc.926dup (p.Ser310PhefsTer5)
c.764dup (p.Ser256PhefsTer5)
c.*102dup (n.*102dup)
c.173dup (p.Ser59PhefsTer5)
 dbSNP
5g.69534728C>ACA360066499OCLNc.926C>A (p.Pro309His)
c.764C>A (p.Pro255His)
c.*102C>A (n.*102C>A)
c.173C>A (p.Pro58His)
5g.69534728C>GCA360066501OCLNc.926C>G (p.Pro309Arg)
c.764C>G (p.Pro255Arg)
c.*102C>G (n.*102C>G)
c.173C>G (p.Pro58Arg)
5g.69534728C>TCA360066503OCLNc.926C>T (p.Pro309Leu)
c.764C>T (p.Pro255Leu)
c.*102C>T (n.*102C>T)
c.173C>T (p.Pro58Leu)
5g.69534729T>ACA444854981OCLNc.927T>A (p.Pro309=)
c.765T>A (p.Pro255=)
c.*103T>A (n.*103T>A)
c.174T>A (p.Pro58=)
5g.69534729T>CCA444854984OCLNc.927T>C (p.Pro309=)
c.765T>C (p.Pro255=)
c.*103T>C (n.*103T>C)
c.174T>C (p.Pro58=)
5g.69534729T>GCA444854979OCLNc.927T>G (p.Pro309=)
c.765T>G (p.Pro255=)
c.*103T>G (n.*103T>G)
c.174T>G (p.Pro58=)
 gnomAD v4
5g.69534730T>ACA360066510OCLNc.928T>A (p.Ser310Thr)
c.766T>A (p.Ser256Thr)
c.*104T>A (n.*104T>A)
c.175T>A (p.Ser59Thr)
5g.69534730T>CCA360066506OCLNc.928T>C (p.Ser310Pro)
c.766T>C (p.Ser256Pro)
c.*104T>C (n.*104T>C)
c.175T>C (p.Ser59Pro)
5g.69534730T>GCA360066508OCLNc.928T>G (p.Ser310Ala)
c.766T>G (p.Ser256Ala)
c.*104T>G (n.*104T>G)
c.175T>G (p.Ser59Ala)
5g.69534731C>ACA360066512OCLNc.929C>A (p.Ser310Ter)
c.767C>A (p.Ser256Ter)
c.*105C>A (n.*105C>A)
c.176C>A (p.Ser59Ter)
5g.69534731C>GCA360066516OCLNc.929C>G (p.Ser310Ter)
c.767C>G (p.Ser256Ter)
c.*105C>G (n.*105C>G)
c.176C>G (p.Ser59Ter)
5g.69534731C>TCA360066514OCLNc.929C>T (p.Ser310Leu)
c.767C>T (p.Ser256Leu)
c.*105C>T (n.*105C>T)
c.176C>T (p.Ser59Leu)
5g.69534732A>CCA444855003OCLNc.930A>C (p.Ser310=)
c.768A>C (p.Ser256=)
c.*106A>C (n.*106A>C)
c.177A>C (p.Ser59=)
5g.69534732A>GCA444854999OCLNc.930A>G (p.Ser310=)
c.768A>G (p.Ser256=)
c.*106A>G (n.*106A>G)
c.177A>G (p.Ser59=)
 gnomAD v4
5g.69534732A>TCA444854997OCLNc.930A>T (p.Ser310=)
c.768A>T (p.Ser256=)
c.*106A>T (n.*106A>T)
c.177A>T (p.Ser59=)
5g.69534733C>ACA360066517OCLNc.931C>A (p.Pro311Thr)
c.769C>A (p.Pro257Thr)
c.*107C>A (n.*107C>A)
c.178C>A (p.Pro60Thr)
 gnomAD v4
5g.69534733C=CA1553964479OCLNc.931C= (p.Pro311=)
c.769C= (p.Pro257=)
c.*107C= (n.*107C=)
c.178C= (p.Pro60=)
5g.69534733C>GCA360066518OCLNc.931C>G (p.Pro311Ala)
c.769C>G (p.Pro257Ala)
c.*107C>G (n.*107C>G)
c.178C>G (p.Pro60Ala)
 gnomAD v4
5g.69534733C>TCA360066519OCLNc.931C>T (p.Pro311Ser)
c.769C>T (p.Pro257Ser)
c.*107C>T (n.*107C>T)
c.178C>T (p.Pro60Ser)
 dbSNP
5g.69534734C>ACA360066520OCLNc.932C>A (p.Pro311His)
c.770C>A (p.Pro257His)
c.*108C>A (n.*108C>A)
c.179C>A (p.Pro60His)
 gnomAD v4
5g.69534734C>GCA360066522OCLNc.932C>G (p.Pro311Arg)
c.770C>G (p.Pro257Arg)
c.*108C>G (n.*108C>G)
c.179C>G (p.Pro60Arg)
5g.69534734C>TCA360066524OCLNc.932C>T (p.Pro311Leu)
c.770C>T (p.Pro257Leu)
c.*108C>T (n.*108C>T)
c.179C>T (p.Pro60Leu)
5g.69534735C>ACA444855016OCLNc.933C>A (p.Pro311=)
c.771C>A (p.Pro257=)
c.*109C>A (n.*109C>A)
c.180C>A (p.Pro60=)
5g.69534735C>GCA444855019OCLNc.933C>G (p.Pro311=)
c.771C>G (p.Pro257=)
c.*109C>G (n.*109C>G)
c.180C>G (p.Pro60=)
5g.69534735C>TCA444855017OCLNc.933C>T (p.Pro311=)
c.771C>T (p.Pro257=)
c.*109C>T (n.*109C>T)
c.180C>T (p.Pro60=)
 gnomAD v4
5g.69534736_69534740dupCA2674136487OCLNc.934_938dup (p.Asp314HisfsTer20)
c.772_776dup (p.Asp260HisfsTer20)
c.*110_*114dup (n.*110_*114dup)
c.181_185dup (p.Asp63HisfsTer20)
 gnomAD v4
5g.69534736C>ACA360066528OCLNc.934C>A (p.Pro312Thr)
c.772C>A (p.Pro258Thr)
c.*110C>A (n.*110C>A)
c.181C>A (p.Pro61Thr)
 gnomAD v4
5g.69534736C=CA1553964480OCLNc.934C= (p.Pro312=)
c.772C= (p.Pro258=)
c.*110C= (n.*110C=)
c.181C= (p.Pro61=)
5g.69534736C>GCA360066527OCLNc.934C>G (p.Pro312Ala)
c.772C>G (p.Pro258Ala)
c.*110C>G (n.*110C>G)
c.181C>G (p.Pro61Ala)
 gnomAD v4
5g.69534736C>TCA360066526OCLNc.934C>T (p.Pro312Ser)
c.772C>T (p.Pro258Ser)
c.*110C>T (n.*110C>T)
c.181C>T (p.Pro61Ser)
 dbSNP gnomAD v2 gnomAD v4
5g.69534737C>ACA360066531OCLNc.935C>A (p.Pro312Gln)
c.773C>A (p.Pro258Gln)
c.*111C>A (n.*111C>A)
c.182C>A (p.Pro61Gln)
 gnomAD v4
5g.69534737C>GCA360066533OCLNc.935C>G (p.Pro312Arg)
c.773C>G (p.Pro258Arg)
c.*111C>G (n.*111C>G)
c.182C>G (p.Pro61Arg)
5g.69534737C>TCA360066534OCLNc.935C>T (p.Pro312Leu)
c.773C>T (p.Pro258Leu)
c.*111C>T (n.*111C>T)
c.182C>T (p.Pro61Leu)
5g.69534738A=CA1553964481OCLNc.936A= (p.Pro312=)
c.774A= (p.Pro258=)
c.*112A= (n.*112A=)
c.183A= (p.Pro61=)
5g.69534738A>CCA444855031OCLNc.936A>C (p.Pro312=)
c.774A>C (p.Pro258=)
c.*112A>C (n.*112A>C)
c.183A>C (p.Pro61=)
5g.69534738A>GCA444855033OCLNc.936A>G (p.Pro312=)
c.774A>G (p.Pro258=)
c.*112A>G (n.*112A>G)
c.183A>G (p.Pro61=)
 dbSNP gnomAD v4
5g.69534738A>TCA444855036OCLNc.936A>T (p.Pro312=)
c.774A>T (p.Pro258=)
c.*112A>T (n.*112A>T)
c.183A>T (p.Pro61=)
5g.69534739T>ACA360066537OCLNc.937T>A (p.Ser313Thr)
c.775T>A (p.Ser259Thr)
c.*113T>A (n.*113T>A)
c.184T>A (p.Ser62Thr)
5g.69534739T>CCA3294547OCLNc.937T>C (p.Ser313Pro)
c.775T>C (p.Ser259Pro)
c.*113T>C (n.*113T>C)
c.184T>C (p.Ser62Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.69534739T>GCA360066539OCLNc.937T>G (p.Ser313Ala)
c.775T>G (p.Ser259Ala)
c.*113T>G (n.*113T>G)
c.184T>G (p.Ser62Ala)
5g.69534739T=CA1553964482OCLNc.937T= (p.Ser313=)
c.775T= (p.Ser259=)
c.*113T= (n.*113T=)
c.184T= (p.Ser62=)
5g.69534740C>ACA3294548OCLNc.938C>A (p.Ser313Tyr)
c.776C>A (p.Ser259Tyr)
c.*114C>A (n.*114C>A)
c.185C>A (p.Ser62Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.69534740C=CA1553964483OCLNc.938C= (p.Ser313=)
c.776C= (p.Ser259=)
c.*114C= (n.*114C=)
c.185C= (p.Ser62=)
5g.69534740C>GCA360066542OCLNc.938C>G (p.Ser313Cys)
c.776C>G (p.Ser259Cys)
c.*114C>G (n.*114C>G)
c.185C>G (p.Ser62Cys)
5g.69534740C>TCA360066541OCLNc.938C>T (p.Ser313Phe)
c.776C>T (p.Ser259Phe)
c.*114C>T (n.*114C>T)
c.185C>T (p.Ser62Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.69534741T>ACA444855050OCLNc.939T>A (p.Ser313=)
c.777T>A (p.Ser259=)
c.*115T>A (n.*115T>A)
c.186T>A (p.Ser62=)
 gnomAD v4
5g.69534741T>CCA444855052OCLNc.939T>C (p.Ser313=)
c.777T>C (p.Ser259=)
c.*115T>C (n.*115T>C)
c.186T>C (p.Ser62=)
5g.69534741T>GCA444855055OCLNc.939T>G (p.Ser313=)
c.777T>G (p.Ser259=)
c.*115T>G (n.*115T>G)
c.186T>G (p.Ser62=)
5g.69534742G>ACA360066545OCLNc.940G>A (p.Asp314Asn)
c.778G>A (p.Asp260Asn)
c.*116G>A (n.*116G>A)
c.187G>A (p.Asp63Asn)
5g.69534742G>CCA360066546OCLNc.940G>C (p.Asp314His)
c.778G>C (p.Asp260His)
c.*116G>C (n.*116G>C)
c.187G>C (p.Asp63His)
5g.69534742G>TCA360066547OCLNc.940G>T (p.Asp314Tyr)
c.778G>T (p.Asp260Tyr)
c.*116G>T (n.*116G>T)
c.187G>T (p.Asp63Tyr)
5g.69534743A>CCA360066549OCLNc.941A>C (p.Asp314Ala)
c.779A>C (p.Asp260Ala)
c.*117A>C (n.*117A>C)
c.188A>C (p.Asp63Ala)
5g.69534743A>GCA360066551OCLNc.941A>G (p.Asp314Gly)
c.779A>G (p.Asp260Gly)
c.*117A>G (n.*117A>G)
c.188A>G (p.Asp63Gly)
5g.69534743A>TCA360066553OCLNc.941A>T (p.Asp314Val)
c.779A>T (p.Asp260Val)
c.*117A>T (n.*117A>T)
c.188A>T (p.Asp63Val)
5g.69534744C>ACA3294549OCLNc.942C>A (p.Asp314Glu)
c.780C>A (p.Asp260Glu)
c.*118C>A (n.*118C>A)
c.189C>A (p.Asp63Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.69534744C=CA1553964484OCLNc.942C= (p.Asp314=)
c.780C= (p.Asp260=)
c.*118C= (n.*118C=)
c.189C= (p.Asp63=)
5g.69534744C>GCA360066556OCLNc.942C>G (p.Asp314Glu)
c.780C>G (p.Asp260Glu)
c.*118C>G (n.*118C>G)
c.189C>G (p.Asp63Glu)
5g.69534744C>TCA444855076OCLNc.942C>T (p.Asp314=)
c.780C>T (p.Asp260=)
c.*118C>T (n.*118C>T)
c.189C>T (p.Asp63=)
5g.69534745T>ACA360066559OCLNc.943T>A (p.Tyr315Asn)
c.781T>A (p.Tyr261Asn)
c.*119T>A (n.*119T>A)
c.190T>A (p.Tyr64Asn)
5g.69534745T>CCA360066561OCLNc.943T>C (p.Tyr315His)
c.781T>C (p.Tyr261His)
c.*119T>C (n.*119T>C)
c.190T>C (p.Tyr64His)
 dbSNP
5g.69534745T>GCA360066563OCLNc.943T>G (p.Tyr315Asp)
c.781T>G (p.Tyr261Asp)
c.*119T>G (n.*119T>G)
c.190T>G (p.Tyr64Asp)
5g.69534745T=CA1553964485OCLNc.943T= (p.Tyr315=)
c.781T= (p.Tyr261=)
c.*119T= (n.*119T=)
c.190T= (p.Tyr64=)
5g.69534746_69534747delCA2674136488OCLNc.944_945del (p.Tyr315CysfsTer5)
c.782_783del (p.Tyr261CysfsTer5)
c.*120_*121del (n.*120_*121del)
c.191_192del (p.Tyr64CysfsTer5)
 gnomAD v4
5g.69534746A=CA1553964486OCLNc.944A= (p.Tyr315=)
c.782A= (p.Tyr261=)
c.*120A= (n.*120A=)
c.191A= (p.Tyr64=)
5g.69534746A>CCA360066565OCLNc.944A>C (p.Tyr315Ser)
c.782A>C (p.Tyr261Ser)
c.*120A>C (n.*120A>C)
c.191A>C (p.Tyr64Ser)
 dbSNP
5g.69534746A>GCA360066568OCLNc.944A>G (p.Tyr315Cys)
c.782A>G (p.Tyr261Cys)
c.*120A>G (n.*120A>G)
c.191A>G (p.Tyr64Cys)
 gnomAD v4
5g.69534746A>TCA360066567OCLNc.944A>T (p.Tyr315Phe)
c.782A>T (p.Tyr261Phe)
c.*120A>T (n.*120A>T)
c.191A>T (p.Tyr64Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.69534747T>ACA360066571OCLNc.945T>A (p.Tyr315Ter)
c.783T>A (p.Tyr261Ter)
c.*121T>A (n.*121T>A)
c.192T>A (p.Tyr64Ter)
5g.69534747T>CCA3294550OCLNc.945T>C (p.Tyr315=)
c.783T>C (p.Tyr261=)
c.*121T>C (n.*121T>C)
c.192T>C (p.Tyr64=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.69534747T>GCA360066574OCLNc.945T>G (p.Tyr315Ter)
c.783T>G (p.Tyr261Ter)
c.*121T>G (n.*121T>G)
c.192T>G (p.Tyr64Ter)
5g.69534747T=CA1553964487OCLNc.945T= (p.Tyr315=)
c.783T= (p.Tyr261=)
c.*121T= (n.*121T=)
c.192T= (p.Tyr64=)
5g.69534748G>ACA360066577OCLNc.946G>A (p.Val316Met)
c.784G>A (p.Val262Met)
c.*122G>A (n.*122G>A)
c.193G>A (p.Val65Met)
 gnomAD v4
5g.69534748G>CCA360066579OCLNc.946G>C (p.Val316Leu)
c.784G>C (p.Val262Leu)
c.*122G>C (n.*122G>C)
c.193G>C (p.Val65Leu)
5g.69534748G>TCA360066581OCLNc.946G>T (p.Val316Leu)
c.784G>T (p.Val262Leu)
c.*122G>T (n.*122G>T)
c.193G>T (p.Val65Leu)
5g.69534749T>ACA360066584OCLNc.947T>A (p.Val316Glu)
c.785T>A (p.Val262Glu)
c.*123T>A (n.*123T>A)
c.194T>A (p.Val65Glu)
5g.69534749T>CCA360066586OCLNc.947T>C (p.Val316Ala)
c.785T>C (p.Val262Ala)
c.*123T>C (n.*123T>C)
c.194T>C (p.Val65Ala)
5g.69534749T>GCA360066587OCLNc.947T>G (p.Val316Gly)
c.785T>G (p.Val262Gly)
c.*123T>G (n.*123T>G)
c.194T>G (p.Val65Gly)
5g.69534750G>ACA444855093OCLNc.948G>A (p.Val316=)
c.786G>A (p.Val262=)
c.*124G>A (n.*124G>A)
c.195G>A (p.Val65=)
5g.69534750G>CCA444855096OCLNc.948G>C (p.Val316=)
c.786G>C (p.Val262=)
c.*124G>C (n.*124G>C)
c.195G>C (p.Val65=)
5g.69534750G>TCA444855094OCLNc.948G>T (p.Val316=)
c.786G>T (p.Val262=)
c.*124G>T (n.*124G>T)
c.195G>T (p.Val65=)
5g.69534751G>ACA3294551OCLNc.949G>A (p.Glu317Lys)
c.787G>A (p.Glu263Lys)
c.*125G>A (n.*125G>A)
c.196G>A (p.Glu66Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.69534751G>CCA360066590OCLNc.949G>C (p.Glu317Gln)
c.787G>C (p.Glu263Gln)
c.*125G>C (n.*125G>C)
c.196G>C (p.Glu66Gln)
5g.69534751G=CA1553964488OCLNc.949G= (p.Glu317=)
c.787G= (p.Glu263=)
c.*125G= (n.*125G=)
c.196G= (p.Glu66=)
5g.69534751G>TCA360066592OCLNc.949G>T (p.Glu317Ter)
c.787G>T (p.Glu263Ter)
c.*125G>T (n.*125G>T)
c.196G>T (p.Glu66Ter)
5g.69534752A>CCA360066599OCLNc.950A>C (p.Glu317Ala)
c.788A>C (p.Glu263Ala)
c.*126A>C (n.*126A>C)
c.197A>C (p.Glu66Ala)
5g.69534752A>GCA360066595OCLNc.950A>G (p.Glu317Gly)
c.788A>G (p.Glu263Gly)
c.*126A>G (n.*126A>G)
c.197A>G (p.Glu66Gly)
5g.69534752A>TCA360066597OCLNc.950A>T (p.Glu317Val)
c.788A>T (p.Glu263Val)
c.*126A>T (n.*126A>T)
c.197A>T (p.Glu66Val)
5g.69534753A>CCA360066601OCLNc.951A>C (p.Glu317Asp)
c.789A>C (p.Glu263Asp)
c.*127A>C (n.*127A>C)
c.198A>C (p.Glu66Asp)
5g.69534753A>GCA444855106OCLNc.951A>G (p.Glu317=)
c.789A>G (p.Glu263=)
c.*127A>G (n.*127A>G)
c.198A>G (p.Glu66=)
 gnomAD v4
5g.69534753A>TCA360066603OCLNc.951A>T (p.Glu317Asp)
c.789A>T (p.Glu263Asp)
c.*127A>T (n.*127A>T)
c.198A>T (p.Glu66Asp)
5g.69534754A=CA1553964489OCLNc.952A= (p.Arg318=)
c.790A= (p.Arg264=)
c.*128A= (n.*128A=)
c.199A= (p.Arg67=)
5g.69534754A>CCA444855109OCLNc.952A>C (p.Arg318=)
c.790A>C (p.Arg264=)
c.*128A>C (n.*128A>C)
c.199A>C (p.Arg67=)
5g.69534754A>GCA3294552OCLNc.952A>G (p.Arg318Gly)
c.790A>G (p.Arg264Gly)
c.*128A>G (n.*128A>G)
c.199A>G (p.Arg67Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.69534754A>TCA360066606OCLNc.952A>T (p.Arg318Ter)
c.790A>T (p.Arg264Ter)
c.*128A>T (n.*128A>T)
c.199A>T (p.Arg67Ter)

Number of alleles fetched