Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.22992836A=CA2289916096RBBP8c.1009A= (p.Lys337=)
c.187A= (p.Lys63=)
c.715A= (p.Lys239=)
18g.22992836A>CCA401776088RBBP8c.1009A>C (p.Lys337Gln)
c.187A>C (p.Lys63Gln)
c.715A>C (p.Lys239Gln)
18g.22992836A>GCA117794RBBP8c.1009A>G (p.Lys337Glu)
c.187A>G (p.Lys63Glu)
c.715A>G (p.Lys239Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22992836A>TCA401776089RBBP8c.1009A>T (p.Lys337Ter)
c.187A>T (p.Lys63Ter)
c.715A>T (p.Lys239Ter)
18g.22992839delCA2641247335RBBP8c.1012del (p.Ser338ValfsTer3)
c.190del (p.Ser64ValfsTer3)
c.718del (p.Ser240ValfsTer3)
 gnomAD v4
18g.22992837A=CA2289916097RBBP8c.1010A= (p.Lys337=)
c.188A= (p.Lys63=)
c.716A= (p.Lys239=)
18g.22992837A>CCA401776090RBBP8c.1010A>C (p.Lys337Thr)
c.188A>C (p.Lys63Thr)
c.716A>C (p.Lys239Thr)
18g.22992837A>GCA401776091RBBP8c.1010A>G (p.Lys337Arg)
c.188A>G (p.Lys63Arg)
c.716A>G (p.Lys239Arg)
 dbSNP gnomAD v2 gnomAD v4
18g.22992837A>TCA401776092RBBP8c.1010A>T (p.Lys337Ile)
c.188A>T (p.Lys63Ile)
c.716A>T (p.Lys239Ile)
18g.22992838A>CCA401776093RBBP8c.1011A>C (p.Lys337Asn)
c.189A>C (p.Lys63Asn)
c.717A>C (p.Lys239Asn)
18g.22992838A>GCA503521030RBBP8c.1011A>G (p.Lys337=)
c.189A>G (p.Lys63=)
c.717A>G (p.Lys239=)
18g.22992838A>TCA401776094RBBP8c.1011A>T (p.Lys337Asn)
c.189A>T (p.Lys63Asn)
c.717A>T (p.Lys239Asn)
18g.22992839A>CCA401776095RBBP8c.1012A>C (p.Ser338Arg)
c.190A>C (p.Ser64Arg)
c.718A>C (p.Ser240Arg)
18g.22992839A>GCA401776096RBBP8c.1012A>G (p.Ser338Gly)
c.190A>G (p.Ser64Gly)
c.718A>G (p.Ser240Gly)
18g.22992839A>TCA401776097RBBP8c.1012A>T (p.Ser338Cys)
c.190A>T (p.Ser64Cys)
c.718A>T (p.Ser240Cys)
18g.22992840G>ACA401776098RBBP8c.1013G>A (p.Ser338Asn)
c.191G>A (p.Ser64Asn)
c.719G>A (p.Ser240Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.22992840G>CCA401776099RBBP8c.1013G>C (p.Ser338Thr)
c.191G>C (p.Ser64Thr)
c.719G>C (p.Ser240Thr)
 dbSNP gnomAD v2 gnomAD v4
18g.22992840G=CA2289916098RBBP8c.1013G= (p.Ser338=)
c.191G= (p.Ser64=)
c.719G= (p.Ser240=)
18g.22992840G>TCA401776100RBBP8c.1013G>T (p.Ser338Ile)
c.191G>T (p.Ser64Ile)
c.719G>T (p.Ser240Ile)
18g.22992841T>ACA8910002RBBP8c.1014T>A (p.Ser338Arg)
c.192T>A (p.Ser64Arg)
c.720T>A (p.Ser240Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.22992841T>CCA503521031RBBP8c.1014T>C (p.Ser338=)
c.192T>C (p.Ser64=)
c.720T>C (p.Ser240=)
18g.22992841T>GCA401776101RBBP8c.1014T>G (p.Ser338Arg)
c.192T>G (p.Ser64Arg)
c.720T>G (p.Ser240Arg)
18g.22992841T=CA2289916099RBBP8c.1014T= (p.Ser338=)
c.192T= (p.Ser64=)
c.720T= (p.Ser240=)
18g.22992842G>ACA401776102RBBP8c.1015G>A (p.Gly339Ser)
c.193G>A (p.Gly65Ser)
c.721G>A (p.Gly241Ser)
18g.22992842G>CCA401776103RBBP8c.1015G>C (p.Gly339Arg)
c.193G>C (p.Gly65Arg)
c.721G>C (p.Gly241Arg)
18g.22992842G>TCA401776104RBBP8c.1015G>T (p.Gly339Cys)
c.193G>T (p.Gly65Cys)
c.721G>T (p.Gly241Cys)
18g.22992843delCA2641247336RBBP8c.1016del (p.Gly339ValfsTer2)
c.194del (p.Gly65ValfsTer2)
c.722del (p.Gly241ValfsTer2)
 gnomAD v4
18g.22992843G>ACA401776105RBBP8c.1016G>A (p.Gly339Asp)
c.194G>A (p.Gly65Asp)
c.722G>A (p.Gly241Asp)
18g.22992843G>CCA401776106RBBP8c.1016G>C (p.Gly339Ala)
c.194G>C (p.Gly65Ala)
c.722G>C (p.Gly241Ala)
18g.22992843G>TCA401776107RBBP8c.1016G>T (p.Gly339Val)
c.194G>T (p.Gly65Val)
c.722G>T (p.Gly241Val)
18g.22992844T>ACA503521032RBBP8c.1017T>A (p.Gly339=)
c.195T>A (p.Gly65=)
c.723T>A (p.Gly241=)
18g.22992844T>CCA503521033RBBP8c.1017T>C (p.Gly339=)
c.195T>C (p.Gly65=)
c.723T>C (p.Gly241=)
 gnomAD v4
18g.22992844T>GCA503521034RBBP8c.1017T>G (p.Gly339=)
c.195T>G (p.Gly65=)
c.723T>G (p.Gly241=)
18g.22992845T>ACA401776109RBBP8c.1018T>A (p.Leu340Ile)
c.196T>A (p.Leu66Ile)
c.724T>A (p.Leu242Ile)
18g.22992845T>CCA503521035RBBP8c.1018T>C (p.Leu340=)
c.196T>C (p.Leu66=)
c.724T>C (p.Leu242=)
18g.22992845T>GCA401776108RBBP8c.1018T>G (p.Leu340Val)
c.196T>G (p.Leu66Val)
c.724T>G (p.Leu242Val)
18g.22992846T>ACA401776110RBBP8c.1019T>A (p.Leu340Ter)
c.197T>A (p.Leu66Ter)
c.725T>A (p.Leu242Ter)
18g.22992846T>CCA401776111RBBP8c.1019T>C (p.Leu340Ser)
c.197T>C (p.Leu66Ser)
c.725T>C (p.Leu242Ser)
18g.22992846T>GCA401776112RBBP8c.1019T>G (p.Leu340Ter)
c.197T>G (p.Leu66Ter)
c.725T>G (p.Leu242Ter)
18g.22992847A=CA2289916100RBBP8c.1020A= (p.Leu340=)
c.198A= (p.Leu66=)
c.726A= (p.Leu242=)
18g.22992847A>CCA401776113RBBP8c.1020A>C (p.Leu340Phe)
c.198A>C (p.Leu66Phe)
c.726A>C (p.Leu242Phe)
18g.22992847A>GCA8910003RBBP8c.1020A>G (p.Leu340=)
c.198A>G (p.Leu66=)
c.726A>G (p.Leu242=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.22992847A>TCA401776114RBBP8c.1020A>T (p.Leu340Phe)
c.198A>T (p.Leu66Phe)
c.726A>T (p.Leu242Phe)
18g.22992848G>ACA401776115RBBP8c.1021G>A (p.Asp341Asn)
c.199G>A (p.Asp67Asn)
c.727G>A (p.Asp243Asn)
18g.22992848G>CCA401776117RBBP8c.1021G>C (p.Asp341His)
c.199G>C (p.Asp67His)
c.727G>C (p.Asp243His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.22992848G=CA2289916101RBBP8c.1021G= (p.Asp341=)
c.199G= (p.Asp67=)
c.727G= (p.Asp243=)
18g.22992848G>TCA401776116RBBP8c.1021G>T (p.Asp341Tyr)
c.199G>T (p.Asp67Tyr)
c.727G>T (p.Asp243Tyr)
 gnomAD v4
18g.22992849A=CA2289916102RBBP8c.1022A= (p.Asp341=)
c.200A= (p.Asp67=)
c.728A= (p.Asp243=)
18g.22992849A>CCA401776118RBBP8c.1022A>C (p.Asp341Ala)
c.200A>C (p.Asp67Ala)
c.728A>C (p.Asp243Ala)
18g.22992849A>GCA401776119RBBP8c.1022A>G (p.Asp341Gly)
c.200A>G (p.Asp67Gly)
c.728A>G (p.Asp243Gly)
 dbSNP
18g.22992849A>TCA401776120RBBP8c.1022A>T (p.Asp341Val)
c.200A>T (p.Asp67Val)
c.728A>T (p.Asp243Val)
18g.22992850T>ACA401776121RBBP8c.1023T>A (p.Asp341Glu)
c.201T>A (p.Asp67Glu)
c.729T>A (p.Asp243Glu)
18g.22992850T>CCA8910004RBBP8c.1023T>C (p.Asp341=)
c.201T>C (p.Asp67=)
c.729T>C (p.Asp243=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.22992850T>GCA401776122RBBP8c.1023T>G (p.Asp341Glu)
c.201T>G (p.Asp67Glu)
c.729T>G (p.Asp243Glu)
18g.22992850T=CA2289916104RBBP8c.1023T= (p.Asp341=)
c.201T= (p.Asp67=)
c.729T= (p.Asp243=)
18g.22992851T>ACA401776123RBBP8c.1024T>A (p.Leu342Met)
c.202T>A (p.Leu68Met)
c.730T>A (p.Leu244Met)
18g.22992851T>CCA503521036RBBP8c.1024T>C (p.Leu342=)
c.202T>C (p.Leu68=)
c.730T>C (p.Leu244=)
18g.22992851T>GCA401776124RBBP8c.1024T>G (p.Leu342Val)
c.202T>G (p.Leu68Val)
c.730T>G (p.Leu244Val)
18g.22992852T>ACA401776125RBBP8c.1025T>A (p.Leu342Ter)
c.203T>A (p.Leu68Ter)
c.731T>A (p.Leu244Ter)
18g.22992852T>CCA297050689RBBP8c.1025T>C (p.Leu342Ser)
c.203T>C (p.Leu68Ser)
c.731T>C (p.Leu244Ser)
 dbSNP
18g.22992852T>GCA401776126RBBP8c.1025T>G (p.Leu342Trp)
c.203T>G (p.Leu68Trp)
c.731T>G (p.Leu244Trp)
18g.22992852T=CA2289916105RBBP8c.1025T= (p.Leu342=)
c.203T= (p.Leu68=)
c.731T= (p.Leu244=)
18g.22992853G>ACA503521037RBBP8c.1026G>A (p.Leu342=)
c.204G>A (p.Leu68=)
c.732G>A (p.Leu244=)
18g.22992853G>CCA401776127RBBP8c.1026G>C (p.Leu342Phe)
c.204G>C (p.Leu68Phe)
c.732G>C (p.Leu244Phe)
18g.22992853G=CA2289916106RBBP8c.1026G= (p.Leu342=)
c.204G= (p.Leu68=)
c.732G= (p.Leu244=)
18g.22992853G>TCA401776128RBBP8c.1026G>T (p.Leu342Phe)
c.204G>T (p.Leu68Phe)
c.732G>T (p.Leu244Phe)
 dbSNP
18g.22992854A>CCA401776129RBBP8c.1027A>C (p.Asn343His)
c.205A>C (p.Asn69His)
c.733A>C (p.Asn245His)
18g.22992854A>GCA401776131RBBP8c.1027A>G (p.Asn343Asp)
c.205A>G (p.Asn69Asp)
c.733A>G (p.Asn245Asp)
18g.22992854A>TCA401776130RBBP8c.1027A>T (p.Asn343Tyr)
c.205A>T (p.Asn69Tyr)
c.733A>T (p.Asn245Tyr)
18g.22992855A=CA2289916107RBBP8c.1028A= (p.Asn343=)
c.206A= (p.Asn69=)
c.734A= (p.Asn245=)
18g.22992855A>CCA401776132RBBP8c.1028A>C (p.Asn343Thr)
c.206A>C (p.Asn69Thr)
c.734A>C (p.Asn245Thr)
18g.22992855A>GCA8910005RBBP8c.1028A>G (p.Asn343Ser)
c.206A>G (p.Asn69Ser)
c.734A>G (p.Asn245Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22992855A>TCA401776133RBBP8c.1028A>T (p.Asn343Ile)
c.206A>T (p.Asn69Ile)
c.734A>T (p.Asn245Ile)
18g.22992856T>ACA401776134RBBP8c.1029T>A (p.Asn343Lys)
c.207T>A (p.Asn69Lys)
c.735T>A (p.Asn245Lys)
18g.22992856T>CCA503521038RBBP8c.1029T>C (p.Asn343=)
c.207T>C (p.Asn69=)
c.735T>C (p.Asn245=)
 dbSNP gnomAD v3 gnomAD v4
18g.22992856T>GCA401776135RBBP8c.1029T>G (p.Asn343Lys)
c.207T>G (p.Asn69Lys)
c.735T>G (p.Asn245Lys)
18g.22992856T=CA2289916108RBBP8c.1029T= (p.Asn343=)
c.207T= (p.Asn69=)
c.735T= (p.Asn245=)
18g.22992857A>CCA401776136RBBP8c.1030A>C (p.Thr344Pro)
c.208A>C (p.Thr70Pro)
c.736A>C (p.Thr246Pro)
18g.22992857A>GCA401776137RBBP8c.1030A>G (p.Thr344Ala)
c.208A>G (p.Thr70Ala)
c.736A>G (p.Thr246Ala)
 gnomAD v4
18g.22992857A>TCA401776138RBBP8c.1030A>T (p.Thr344Ser)
c.208A>T (p.Thr70Ser)
c.736A>T (p.Thr246Ser)
18g.22992858C>ACA401776139RBBP8c.1031C>A (p.Thr344Lys)
c.209C>A (p.Thr70Lys)
c.737C>A (p.Thr246Lys)
18g.22992858C=CA2289916109RBBP8c.1031C= (p.Thr344=)
c.209C= (p.Thr70=)
c.737C= (p.Thr246=)
18g.22992858C>GCA401776140RBBP8c.1031C>G (p.Thr344Arg)
c.209C>G (p.Thr70Arg)
c.737C>G (p.Thr246Arg)
18g.22992858C>TCA297050694RBBP8c.1031C>T (p.Thr344Ile)
c.209C>T (p.Thr70Ile)
c.737C>T (p.Thr246Ile)
 dbSNP gnomAD v4
18g.22992859A>CCA503521039RBBP8c.1032A>C (p.Thr344=)
c.210A>C (p.Thr70=)
c.738A>C (p.Thr246=)
18g.22992859A>GCA503521040RBBP8c.1032A>G (p.Thr344=)
c.210A>G (p.Thr70=)
c.738A>G (p.Thr246=)
18g.22992859A>TCA503521041RBBP8c.1032A>T (p.Thr344=)
c.210A>T (p.Thr70=)
c.738A>T (p.Thr246=)
18g.22992860A>CCA401776143RBBP8c.1033A>C (p.Ser345Arg)
c.211A>C (p.Ser71Arg)
c.739A>C (p.Ser247Arg)
18g.22992860A>GCA401776142RBBP8c.1033A>G (p.Ser345Gly)
c.211A>G (p.Ser71Gly)
c.739A>G (p.Ser247Gly)
18g.22992860A>TCA401776141RBBP8c.1033A>T (p.Ser345Cys)
c.211A>T (p.Ser71Cys)
c.739A>T (p.Ser247Cys)
18g.22992861G>ACA401776144RBBP8c.1034G>A (p.Ser345Asn)
c.212G>A (p.Ser71Asn)
c.740G>A (p.Ser247Asn)
18g.22992861G>CCA401776146RBBP8c.1034G>C (p.Ser345Thr)
c.212G>C (p.Ser71Thr)
c.740G>C (p.Ser247Thr)
18g.22992861G>TCA401776145RBBP8c.1034G>T (p.Ser345Ile)
c.212G>T (p.Ser71Ile)
c.740G>T (p.Ser247Ile)
18g.22992862T>ACA401776147RBBP8c.1035T>A (p.Ser345Arg)
c.213T>A (p.Ser71Arg)
c.741T>A (p.Ser247Arg)
18g.22992862T>CCA503521042RBBP8c.1035T>C (p.Ser345=)
c.213T>C (p.Ser71=)
c.741T>C (p.Ser247=)
18g.22992862T>GCA401776148RBBP8c.1035T>G (p.Ser345Arg)
c.213T>G (p.Ser71Arg)
c.741T>G (p.Ser247Arg)
18g.22992863T>ACA401776149RBBP8c.1036T>A (p.Leu346Met)
c.214T>A (p.Leu72Met)
c.742T>A (p.Leu248Met)
18g.22992863T>CCA503521043RBBP8c.1036T>C (p.Leu346=)
c.214T>C (p.Leu72=)
c.742T>C (p.Leu248=)
 gnomAD v4
18g.22992863T>GCA401776150RBBP8c.1036T>G (p.Leu346Val)
c.214T>G (p.Leu72Val)
c.742T>G (p.Leu248Val)
18g.22992864T>ACA401776151RBBP8c.1037T>A (p.Leu346Ter)
c.215T>A (p.Leu72Ter)
c.743T>A (p.Leu248Ter)
18g.22992864T>CCA401776152RBBP8c.1037T>C (p.Leu346Ser)
c.215T>C (p.Leu72Ser)
c.743T>C (p.Leu248Ser)
 gnomAD v4
18g.22992864T>GCA401776153RBBP8c.1037T>G (p.Leu346Trp)
c.215T>G (p.Leu72Trp)
c.743T>G (p.Leu248Trp)
18g.22992865G>ACA503521044RBBP8c.1038G>A (p.Leu346=)
c.216G>A (p.Leu72=)
c.744G>A (p.Leu248=)
18g.22992865G>CCA401776154RBBP8c.1038G>C (p.Leu346Phe)
c.216G>C (p.Leu72Phe)
c.744G>C (p.Leu248Phe)
18g.22992865G>TCA401776155RBBP8c.1038G>T (p.Leu346Phe)
c.216G>T (p.Leu72Phe)
c.744G>T (p.Leu248Phe)
18g.22992866T>ACA401776156RBBP8c.1039T>A (p.Ser347Thr)
c.217T>A (p.Ser73Thr)
c.745T>A (p.Ser249Thr)
18g.22992866T>CCA401776157RBBP8c.1039T>C (p.Ser347Pro)
c.217T>C (p.Ser73Pro)
c.745T>C (p.Ser249Pro)
18g.22992866T>GCA401776158RBBP8c.1039T>G (p.Ser347Ala)
c.217T>G (p.Ser73Ala)
c.745T>G (p.Ser249Ala)
18g.22992867C>ACA401776159RBBP8c.1040C>A (p.Ser347Tyr)
c.218C>A (p.Ser73Tyr)
c.746C>A (p.Ser249Tyr)
18g.22992867C>GCA401776160RBBP8c.1040C>G (p.Ser347Cys)
c.218C>G (p.Ser73Cys)
c.746C>G (p.Ser249Cys)
18g.22992867C>TCA401776161RBBP8c.1040C>T (p.Ser347Phe)
c.218C>T (p.Ser73Phe)
c.746C>T (p.Ser249Phe)
 COSMIC COSMIC
18g.22992868C>ACA503521045RBBP8c.1041C>A (p.Ser347=)
c.219C>A (p.Ser73=)
c.747C>A (p.Ser249=)
18g.22992868C=CA2289916110RBBP8c.1041C= (p.Ser347=)
c.219C= (p.Ser73=)
c.747C= (p.Ser249=)
18g.22992868C>GCA8910006RBBP8c.1041C>G (p.Ser347=)
c.219C>G (p.Ser73=)
c.747C>G (p.Ser249=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22992868C>TCA503521046RBBP8c.1041C>T (p.Ser347=)
c.219C>T (p.Ser73=)
c.747C>T (p.Ser249=)
 gnomAD v4
18g.22992868_22992878delinsCCCTTCTCTTTCA2289916111RBBP8c.1041_1051delinsCCCTTCTCTTT (p.Ser347=)
c.219_229delinsCCCTTCTCTTT (p.Ser73=)
c.747_757delinsCCCTTCTCTTT (p.Ser249=)
18g.22992869C>ACA401776162RBBP8c.1042C>A (p.Pro348Thr)
c.220C>A (p.Pro74Thr)
c.748C>A (p.Pro250Thr)
18g.22992869C>GCA401776163RBBP8c.1042C>G (p.Pro348Ala)
c.220C>G (p.Pro74Ala)
c.748C>G (p.Pro250Ala)
 gnomAD v4
18g.22992869C>TCA401776164RBBP8c.1042C>T (p.Pro348Ser)
c.220C>T (p.Pro74Ser)
c.748C>T (p.Pro250Ser)
18g.22992869_22992878delCA8910007RBBP8c.1042_1051del (p.Pro348TyrfsTer9)
c.220_229del (p.Pro74TyrfsTer9)
c.748_757del (p.Pro250TyrfsTer9)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.22992870C>ACA401776165RBBP8c.1043C>A (p.Pro348His)
c.221C>A (p.Pro74His)
c.749C>A (p.Pro250His)
18g.22992870C>GCA401776166RBBP8c.1043C>G (p.Pro348Arg)
c.221C>G (p.Pro74Arg)
c.749C>G (p.Pro250Arg)
18g.22992870C>TCA401776167RBBP8c.1043C>T (p.Pro348Leu)
c.221C>T (p.Pro74Leu)
c.749C>T (p.Pro250Leu)
18g.22992871T>ACA503521047RBBP8c.1044T>A (p.Pro348=)
c.222T>A (p.Pro74=)
c.750T>A (p.Pro250=)
18g.22992871T>CCA8910008RBBP8c.1044T>C (p.Pro348=)
c.222T>C (p.Pro74=)
c.750T>C (p.Pro250=)
 dbSNP ExAC gnomAD v3 gnomAD v4
18g.22992871T>GCA503521048RBBP8c.1044T>G (p.Pro348=)
c.222T>G (p.Pro74=)
c.750T>G (p.Pro250=)
18g.22992871T=CA2289916112RBBP8c.1044T= (p.Pro348=)
c.222T= (p.Pro74=)
c.750T= (p.Pro250=)
18g.22992872T>ACA401776168RBBP8c.1045T>A (p.Ser349Thr)
c.223T>A (p.Ser75Thr)
c.751T>A (p.Ser251Thr)
18g.22992872T>CCA401776169RBBP8c.1045T>C (p.Ser349Pro)
c.223T>C (p.Ser75Pro)
c.751T>C (p.Ser251Pro)
18g.22992872T>GCA401776170RBBP8c.1045T>G (p.Ser349Ala)
c.223T>G (p.Ser75Ala)
c.751T>G (p.Ser251Ala)
18g.22992873C>ACA401776173RBBP8c.1046C>A (p.Ser349Tyr)
c.224C>A (p.Ser75Tyr)
c.752C>A (p.Ser251Tyr)
18g.22992873C>GCA401776172RBBP8c.1046C>G (p.Ser349Cys)
c.224C>G (p.Ser75Cys)
c.752C>G (p.Ser251Cys)
18g.22992873C>TCA401776171RBBP8c.1046C>T (p.Ser349Phe)
c.224C>T (p.Ser75Phe)
c.752C>T (p.Ser251Phe)
 gnomAD v4
18g.22992874T>ACA503521049RBBP8c.1047T>A (p.Ser349=)
c.225T>A (p.Ser75=)
c.753T>A (p.Ser251=)
18g.22992874T>CCA503521050RBBP8c.1047T>C (p.Ser349=)
c.225T>C (p.Ser75=)
c.753T>C (p.Ser251=)
18g.22992874T>GCA503521051RBBP8c.1047T>G (p.Ser349=)
c.225T>G (p.Ser75=)
c.753T>G (p.Ser251=)
18g.22992875C>ACA401776174RBBP8c.1048C>A (p.Leu350Ile)
c.226C>A (p.Leu76Ile)
c.754C>A (p.Leu252Ile)
18g.22992875C=CA2289916115RBBP8c.1048C= (p.Leu350=)
c.226C= (p.Leu76=)
c.754C= (p.Leu252=)
18g.22992875C>GCA297050734RBBP8c.1048C>G (p.Leu350Val)
c.226C>G (p.Leu76Val)
c.754C>G (p.Leu252Val)
 dbSNP gnomAD v2 gnomAD v4
18g.22992875C>TCA401776175RBBP8c.1048C>T (p.Leu350Phe)
c.226C>T (p.Leu76Phe)
c.754C>T (p.Leu252Phe)
18g.22992876T>ACA401776176RBBP8c.1049T>A (p.Leu350His)
c.227T>A (p.Leu76His)
c.755T>A (p.Leu252His)
18g.22992876T>CCA401776177RBBP8c.1049T>C (p.Leu350Pro)
c.227T>C (p.Leu76Pro)
c.755T>C (p.Leu252Pro)
 gnomAD v4
18g.22992876T>GCA401776178RBBP8c.1049T>G (p.Leu350Arg)
c.227T>G (p.Leu76Arg)
c.755T>G (p.Leu252Arg)
18g.22992878_22992879delCA2641247337RBBP8c.1051_1052del (p.Leu351ThrfsTer14)
c.229_230del (p.Leu77ThrfsTer14)
c.757_758del (p.Leu253ThrfsTer14)
 gnomAD v4
18g.22992877T>ACA503521054RBBP8c.1050T>A (p.Leu350=)
c.228T>A (p.Leu76=)
c.756T>A (p.Leu252=)
18g.22992877T>CCA503521053RBBP8c.1050T>C (p.Leu350=)
c.228T>C (p.Leu76=)
c.756T>C (p.Leu252=)
18g.22992877T>GCA503521052RBBP8c.1050T>G (p.Leu350=)
c.228T>G (p.Leu76=)
c.756T>G (p.Leu252=)
 dbSNP gnomAD v4
18g.22992877T=CA2289916117RBBP8c.1050T= (p.Leu350=)
c.228T= (p.Leu76=)
c.756T= (p.Leu252=)
18g.22992878T>ACA401776179RBBP8c.1051T>A (p.Leu351Ile)
c.229T>A (p.Leu77Ile)
c.757T>A (p.Leu253Ile)
18g.22992878T>CCA503521055RBBP8c.1051T>C (p.Leu351=)
c.229T>C (p.Leu77=)
c.757T>C (p.Leu253=)
 dbSNP gnomAD v2
18g.22992878T>GCA401776180RBBP8c.1051T>G (p.Leu351Val)
c.229T>G (p.Leu77Val)
c.757T>G (p.Leu253Val)
18g.22992878T=CA2289916118RBBP8c.1051T= (p.Leu351=)
c.229T= (p.Leu77=)
c.757T= (p.Leu253=)
18g.22992879T>ACA401776181RBBP8c.1052T>A (p.Leu351Ter)
c.230T>A (p.Leu77Ter)
c.758T>A (p.Leu253Ter)
18g.22992879T>CCA401776182RBBP8c.1052T>C (p.Leu351Ser)
c.230T>C (p.Leu77Ser)
c.758T>C (p.Leu253Ser)
18g.22992879T>GCA401776183RBBP8c.1052T>G (p.Leu351Ter)
c.230T>G (p.Leu77Ter)
c.758T>G (p.Leu253Ter)
18g.22992880A>CCA401776184RBBP8c.1053A>C (p.Leu351Phe)
c.231A>C (p.Leu77Phe)
c.759A>C (p.Leu253Phe)
18g.22992880A>GCA503521056RBBP8c.1053A>G (p.Leu351=)
c.231A>G (p.Leu77=)
c.759A>G (p.Leu253=)
18g.22992880A>TCA401776185RBBP8c.1053A>T (p.Leu351Phe)
c.231A>T (p.Leu77Phe)
c.759A>T (p.Leu253Phe)
18g.22992881C>ACA401776186RBBP8c.1054C>A (p.Gln352Lys)
c.232C>A (p.Gln78Lys)
c.760C>A (p.Gln254Lys)
 gnomAD v3 gnomAD v4
18g.22992881C=CA2289916120RBBP8c.1054C= (p.Gln352=)
c.232C= (p.Gln78=)
c.760C= (p.Gln254=)
18g.22992881C>GCA401776188RBBP8c.1054C>G (p.Gln352Glu)
c.232C>G (p.Gln78Glu)
c.760C>G (p.Gln254Glu)
18g.22992881C>TCA401776187RBBP8c.1054C>T (p.Gln352Ter)
c.232C>T (p.Gln78Ter)
c.760C>T (p.Gln254Ter)
 dbSNP gnomAD v4
18g.22992882A=CA2289916124RBBP8c.1055A= (p.Gln352=)
c.233A= (p.Gln78=)
c.761A= (p.Gln254=)
18g.22992882A>CCA8910009RBBP8c.1055A>C (p.Gln352Pro)
c.233A>C (p.Gln78Pro)
c.761A>C (p.Gln254Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22992882A>GCA401776189RBBP8c.1055A>G (p.Gln352Arg)
c.233A>G (p.Gln78Arg)
c.761A>G (p.Gln254Arg)
 dbSNP gnomAD v2 gnomAD v4
18g.22992882A>TCA401776190RBBP8c.1055A>T (p.Gln352Leu)
c.233A>T (p.Gln78Leu)
c.761A>T (p.Gln254Leu)
18g.22992883G>ACA503521057RBBP8c.1056G>A (p.Gln352=)
c.234G>A (p.Gln78=)
c.762G>A (p.Gln254=)
18g.22992883G>CCA401776191RBBP8c.1056G>C (p.Gln352His)
c.234G>C (p.Gln78His)
c.762G>C (p.Gln254His)
18g.22992883G>TCA401776192RBBP8c.1056G>T (p.Gln352His)
c.234G>T (p.Gln78His)
c.762G>T (p.Gln254His)
18g.22992884C>ACA401776193RBBP8c.1057C>A (p.Pro353Thr)
c.235C>A (p.Pro79Thr)
c.763C>A (p.Pro255Thr)
18g.22992884C=CA2289916127RBBP8c.1057C= (p.Pro353=)
c.235C= (p.Pro79=)
c.763C= (p.Pro255=)
18g.22992884C>GCA401776194RBBP8c.1057C>G (p.Pro353Ala)
c.235C>G (p.Pro79Ala)
c.763C>G (p.Pro255Ala)
 dbSNP gnomAD v3 gnomAD v4
18g.22992884C>TCA401776195RBBP8c.1057C>T (p.Pro353Ser)
c.235C>T (p.Pro79Ser)
c.763C>T (p.Pro255Ser)
18g.22992885C>ACA401776196RBBP8c.1058C>A (p.Pro353His)
c.236C>A (p.Pro79His)
c.764C>A (p.Pro255His)
18g.22992885C>GCA401776197RBBP8c.1058C>G (p.Pro353Arg)
c.236C>G (p.Pro79Arg)
c.764C>G (p.Pro255Arg)
18g.22992885C>TCA401776198RBBP8c.1058C>T (p.Pro353Leu)
c.236C>T (p.Pro79Leu)
c.764C>T (p.Pro255Leu)
18g.22992886T>ACA503521058RBBP8c.1059T>A (p.Pro353=)
c.237T>A (p.Pro79=)
c.765T>A (p.Pro255=)
18g.22992886T>CCA503521059RBBP8c.1059T>C (p.Pro353=)
c.237T>C (p.Pro79=)
c.765T>C (p.Pro255=)
18g.22992886T>GCA503521060RBBP8c.1059T>G (p.Pro353=)
c.237T>G (p.Pro79=)
c.765T>G (p.Pro255=)
18g.22992887G>ACA8910010RBBP8c.1060G>A (p.Gly354Arg)
c.238G>A (p.Gly80Arg)
c.766G>A (p.Gly256Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.22992887G>CCA401776200RBBP8c.1060G>C (p.Gly354Arg)
c.238G>C (p.Gly80Arg)
c.766G>C (p.Gly256Arg)
18g.22992887G=CA2289916131RBBP8c.1060G= (p.Gly354=)
c.238G= (p.Gly80=)
c.766G= (p.Gly256=)
18g.22992887G>TCA401776199RBBP8c.1060G>T (p.Gly354Trp)
c.238G>T (p.Gly80Trp)
c.766G>T (p.Gly256Trp)
 dbSNP gnomAD v4
18g.22992889dupCA2641247338RBBP8c.1062dup (p.Lys355GlufsTer11)
c.240dup (p.Lys81GlufsTer11)
c.768dup (p.Lys257GlufsTer11)
 gnomAD v4
18g.22992888G>ACA401776202RBBP8c.1061G>A (p.Gly354Glu)
c.239G>A (p.Gly80Glu)
c.767G>A (p.Gly256Glu)
18g.22992888G>CCA401776201RBBP8c.1061G>C (p.Gly354Ala)
c.239G>C (p.Gly80Ala)
c.767G>C (p.Gly256Ala)
 dbSNP
18g.22992888G=CA2289916134RBBP8c.1061G= (p.Gly354=)
c.239G= (p.Gly80=)
c.767G= (p.Gly256=)
18g.22992888G>TCA401776203RBBP8c.1061G>T (p.Gly354Val)
c.239G>T (p.Gly80Val)
c.767G>T (p.Gly256Val)
 gnomAD v4 COSMIC COSMIC
18g.22992889G>ACA503521061RBBP8c.1062G>A (p.Gly354=)
c.240G>A (p.Gly80=)
c.768G>A (p.Gly256=)
 COSMIC COSMIC
18g.22992889G>CCA503521062RBBP8c.1062G>C (p.Gly354=)
c.240G>C (p.Gly80=)
c.768G>C (p.Gly256=)
18g.22992889G>TCA503521063RBBP8c.1062G>T (p.Gly354=)
c.240G>T (p.Gly80=)
c.768G>T (p.Gly256=)
18g.22992889_22992890delinsGACA2289916136RBBP8c.1062_1063delinsGA (p.Gly354=)
c.240_241delinsGA (p.Gly80=)
c.768_769delinsGA (p.Gly256=)
18g.22992890A=CA2289916147RBBP8c.1063A= (p.Lys355=)
c.241A= (p.Lys81=)
c.769A= (p.Lys257=)
18g.22992890A>CCA401776204RBBP8c.1063A>C (p.Lys355Gln)
c.241A>C (p.Lys81Gln)
c.769A>C (p.Lys257Gln)
18g.22992890A>GCA8910013RBBP8c.1063A>G (p.Lys355Glu)
c.241A>G (p.Lys81Glu)
c.769A>G (p.Lys257Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.22992890A>TCA401776205RBBP8c.1063A>T (p.Lys355Ter)
c.241A>T (p.Lys81Ter)
c.769A>T (p.Lys257Ter)
18g.22992898dupCA8910012RBBP8c.1071dup (p.His358ThrfsTer8)
c.249dup (p.His84ThrfsTer8)
c.777dup (p.His260ThrfsTer8)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
18g.22992897_22992898dupCA2641247339RBBP8c.1070_1071dup (p.His358AsnfsTer3)
c.248_249dup (p.His84AsnfsTer3)
c.776_777dup (p.His260AsnfsTer3)
 gnomAD v4
18g.22992898delCA8910011RBBP8c.1071del (p.Lys357AsnfsTer3)
c.249del (p.Lys83AsnfsTer3)
c.777del (p.Lys259AsnfsTer3)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.22992896_22992898delCA2641247340RBBP8c.1069_1071del (p.Lys357del)
c.247_249del (p.Lys83del)
c.775_777del (p.Lys259del)
 gnomAD v4
18g.22992891A=CA2289916152RBBP8c.1064A= (p.Lys355=)
c.242A= (p.Lys81=)
c.770A= (p.Lys257=)
18g.22992891A>CCA297050758RBBP8c.1064A>C (p.Lys355Thr)
c.242A>C (p.Lys81Thr)
c.770A>C (p.Lys257Thr)
 dbSNP gnomAD v4
18g.22992891A>GCA401776206RBBP8c.1064A>G (p.Lys355Arg)
c.242A>G (p.Lys81Arg)
c.770A>G (p.Lys257Arg)
18g.22992891A>TCA401776207RBBP8c.1064A>T (p.Lys355Ile)
c.242A>T (p.Lys81Ile)
c.770A>T (p.Lys257Ile)
18g.22992892A>CCA401776209RBBP8c.1065A>C (p.Lys355Asn)
c.243A>C (p.Lys81Asn)
c.771A>C (p.Lys257Asn)
18g.22992892A>GCA503521064RBBP8c.1065A>G (p.Lys355=)
c.243A>G (p.Lys81=)
c.771A>G (p.Lys257=)
18g.22992892A>TCA401776210RBBP8c.1065A>T (p.Lys355Asn)
c.243A>T (p.Lys81Asn)
c.771A>T (p.Lys257Asn)
18g.22992893A>CCA401776211RBBP8c.1066A>C (p.Lys356Gln)
c.244A>C (p.Lys82Gln)
c.772A>C (p.Lys258Gln)
18g.22992893A>GCA401776212RBBP8c.1066A>G (p.Lys356Glu)
c.244A>G (p.Lys82Glu)
c.772A>G (p.Lys258Glu)
18g.22992893A>TCA401776213RBBP8c.1066A>T (p.Lys356Ter)
c.244A>T (p.Lys82Ter)
c.772A>T (p.Lys258Ter)
18g.22992894A>CCA401776217RBBP8c.1067A>C (p.Lys356Thr)
c.245A>C (p.Lys82Thr)
c.773A>C (p.Lys258Thr)
18g.22992894A>GCA401776214RBBP8c.1067A>G (p.Lys356Arg)
c.245A>G (p.Lys82Arg)
c.773A>G (p.Lys258Arg)
18g.22992894A>TCA401776215RBBP8c.1067A>T (p.Lys356Ile)
c.245A>T (p.Lys82Ile)
c.773A>T (p.Lys258Ile)
18g.22992895A>CCA401776218RBBP8c.1068A>C (p.Lys356Asn)
c.246A>C (p.Lys82Asn)
c.774A>C (p.Lys258Asn)
18g.22992895A>GCA503521066RBBP8c.1068A>G (p.Lys356=)
c.246A>G (p.Lys82=)
c.774A>G (p.Lys258=)
18g.22992895A>TCA401776220RBBP8c.1068A>T (p.Lys356Asn)
c.246A>T (p.Lys82Asn)
c.774A>T (p.Lys258Asn)
18g.22992896A>CCA401776222RBBP8c.1069A>C (p.Lys357Gln)
c.247A>C (p.Lys83Gln)
c.775A>C (p.Lys259Gln)
18g.22992896A>GCA401776224RBBP8c.1069A>G (p.Lys357Glu)
c.247A>G (p.Lys83Glu)
c.775A>G (p.Lys259Glu)
18g.22992896A>TCA401776226RBBP8c.1069A>T (p.Lys357Ter)
c.247A>T (p.Lys83Ter)
c.775A>T (p.Lys259Ter)
 gnomAD v4
18g.22992897A=CA2289916155RBBP8c.1070A= (p.Lys357=)
c.248A= (p.Lys83=)
c.776A= (p.Lys259=)
18g.22992897A>CCA401776228RBBP8c.1070A>C (p.Lys357Thr)
c.248A>C (p.Lys83Thr)
c.776A>C (p.Lys259Thr)
18g.22992897A>GCA401776229RBBP8c.1070A>G (p.Lys357Arg)
c.248A>G (p.Lys83Arg)
c.776A>G (p.Lys259Arg)
 dbSNP
18g.22992897A>TCA401776230RBBP8c.1070A>T (p.Lys357Ile)
c.248A>T (p.Lys83Ile)
c.776A>T (p.Lys259Ile)
18g.22992898A=CA2289916159RBBP8c.1071A= (p.Lys357=)
c.249A= (p.Lys83=)
c.777A= (p.Lys259=)
18g.22992898A>CCA154889RBBP8c.1071A>C (p.Lys357Asn)
c.249A>C (p.Lys83Asn)
c.777A>C (p.Lys259Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22992898A>GCA8910015RBBP8c.1071A>G (p.Lys357=)
c.249A>G (p.Lys83=)
c.777A>G (p.Lys259=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.22992898A>TCA401776233RBBP8c.1071A>T (p.Lys357Asn)
c.249A>T (p.Lys83Asn)
c.777A>T (p.Lys259Asn)
18g.22992898_22992899delinsACCA2289916162RBBP8c.1071_1072delinsAC (p.Lys357=)
c.249_250delinsAC (p.Lys83=)
c.777_778delinsAC (p.Lys259=)
18g.22992899delCA8910014RBBP8c.1072del (p.His358IlefsTer2)
c.250del (p.His84IlefsTer2)
c.778del (p.His260IlefsTer2)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22992899C>ACA8910016RBBP8c.1072C>A (p.His358Asn)
c.250C>A (p.His84Asn)
c.778C>A (p.His260Asn)
 dbSNP ExAC gnomAD v2
18g.22992899C=CA2289916165RBBP8c.1072C= (p.His358=)
c.250C= (p.His84=)
c.778C= (p.His260=)
18g.22992899C>GCA401776236RBBP8c.1072C>G (p.His358Asp)
c.250C>G (p.His84Asp)
c.778C>G (p.His260Asp)
18g.22992899C>TCA401776238RBBP8c.1072C>T (p.His358Tyr)
c.250C>T (p.His84Tyr)
c.778C>T (p.His260Tyr)
 COSMIC COSMIC
18g.22992900A>CCA401776239RBBP8c.1073A>C (p.His358Pro)
c.251A>C (p.His84Pro)
c.779A>C (p.His260Pro)
18g.22992900A>GCA401776241RBBP8c.1073A>G (p.His358Arg)
c.251A>G (p.His84Arg)
c.779A>G (p.His260Arg)
 gnomAD v4 COSMIC COSMIC
18g.22992900A>TCA401776244RBBP8c.1073A>T (p.His358Leu)
c.251A>T (p.His84Leu)
c.779A>T (p.His260Leu)
18g.22992901T>ACA401776245RBBP8c.1074T>A (p.His358Gln)
c.252T>A (p.His84Gln)
c.780T>A (p.His260Gln)
18g.22992901T>CCA503521070RBBP8c.1074T>C (p.His358=)
c.252T>C (p.His84=)
c.780T>C (p.His260=)
18g.22992901T>GCA401776247RBBP8c.1074T>G (p.His358Gln)
c.252T>G (p.His84Gln)
c.780T>G (p.His260Gln)
18g.22992902C>ACA401776250RBBP8c.1075C>A (p.Leu359Met)
c.253C>A (p.Leu85Met)
c.781C>A (p.Leu261Met)
18g.22992902C=CA2289916171RBBP8c.1075C= (p.Leu359=)
c.253C= (p.Leu85=)
c.781C= (p.Leu261=)
18g.22992902C>GCA8910017RBBP8c.1075C>G (p.Leu359Val)
c.253C>G (p.Leu85Val)
c.781C>G (p.Leu261Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.22992902C>TCA503521072RBBP8c.1075C>T (p.Leu359=)
c.253C>T (p.Leu85=)
c.781C>T (p.Leu261=)
18g.22992903_22992909delCA2811798422RBBP8c.1076_1082del (p.Leu359HisfsTer12)
c.254_260del (p.Leu85HisfsTer12)
c.782_788del (p.Leu261HisfsTer12)
18g.22992903T>ACA401776252RBBP8c.1076T>A (p.Leu359Gln)
c.254T>A (p.Leu85Gln)
c.782T>A (p.Leu261Gln)
 gnomAD v4
18g.22992903T>CCA401776254RBBP8c.1076T>C (p.Leu359Pro)
c.254T>C (p.Leu85Pro)
c.782T>C (p.Leu261Pro)
18g.22992903T>GCA401776256RBBP8c.1076T>G (p.Leu359Arg)
c.254T>G (p.Leu85Arg)
c.782T>G (p.Leu261Arg)
18g.22992904G>ACA503521074RBBP8c.1077G>A (p.Leu359=)
c.255G>A (p.Leu85=)
c.783G>A (p.Leu261=)
18g.22992904G>CCA503521075RBBP8c.1077G>C (p.Leu359=)
c.255G>C (p.Leu85=)
c.783G>C (p.Leu261=)
18g.22992904G>TCA503521076RBBP8c.1077G>T (p.Leu359=)
c.255G>T (p.Leu85=)
c.783G>T (p.Leu261=)
18g.22992905A>CCA401776258RBBP8c.1078A>C (p.Lys360Gln)
c.256A>C (p.Lys86Gln)
c.784A>C (p.Lys262Gln)
18g.22992905A>GCA401776259RBBP8c.1078A>G (p.Lys360Glu)
c.256A>G (p.Lys86Glu)
c.784A>G (p.Lys262Glu)
18g.22992905A>TCA401776260RBBP8c.1078A>T (p.Lys360Ter)
c.256A>T (p.Lys86Ter)
c.784A>T (p.Lys262Ter)
18g.22992906A>CCA401776263RBBP8c.1079A>C (p.Lys360Thr)
c.257A>C (p.Lys86Thr)
c.785A>C (p.Lys262Thr)
18g.22992906A>GCA401776266RBBP8c.1079A>G (p.Lys360Arg)
c.257A>G (p.Lys86Arg)
c.785A>G (p.Lys262Arg)
18g.22992906A>TCA401776264RBBP8c.1079A>T (p.Lys360Ile)
c.257A>T (p.Lys86Ile)
c.785A>T (p.Lys262Ile)
18g.22992907A=CA2289916175RBBP8c.1080A= (p.Lys360=)
c.258A= (p.Lys86=)
c.786A= (p.Lys262=)
18g.22992907A>CCA401776267RBBP8c.1080A>C (p.Lys360Asn)
c.258A>C (p.Lys86Asn)
c.786A>C (p.Lys262Asn)
18g.22992907A>GCA503521081RBBP8c.1080A>G (p.Lys360=)
c.258A>G (p.Lys86=)
c.786A>G (p.Lys262=)
 dbSNP
18g.22992907A>TCA401776269RBBP8c.1080A>T (p.Lys360Asn)
c.258A>T (p.Lys86Asn)
c.786A>T (p.Lys262Asn)
18g.22992908A>CCA401776272RBBP8c.1081A>C (p.Thr361Pro)
c.259A>C (p.Thr87Pro)
c.787A>C (p.Thr263Pro)
18g.22992908A>GCA401776274RBBP8c.1081A>G (p.Thr361Ala)
c.259A>G (p.Thr87Ala)
c.787A>G (p.Thr263Ala)
18g.22992908A>TCA401776276RBBP8c.1081A>T (p.Thr361Ser)
c.259A>T (p.Thr87Ser)
c.787A>T (p.Thr263Ser)
18g.22992909C>ACA401776279RBBP8c.1082C>A (p.Thr361Lys)
c.260C>A (p.Thr87Lys)
c.788C>A (p.Thr263Lys)
18g.22992909C=CA2289916176RBBP8c.1082C= (p.Thr361=)
c.260C= (p.Thr87=)
c.788C= (p.Thr263=)
18g.22992909C>GCA401776282RBBP8c.1082C>G (p.Thr361Arg)
c.260C>G (p.Thr87Arg)
c.788C>G (p.Thr263Arg)
 gnomAD v4
18g.22992909C>TCA297050776RBBP8c.1082C>T (p.Thr361Ile)
c.260C>T (p.Thr87Ile)
c.788C>T (p.Thr263Ile)
 dbSNP gnomAD v3 gnomAD v4
18g.22992910A>CCA503521083RBBP8c.1083A>C (p.Thr361=)
c.261A>C (p.Thr87=)
c.789A>C (p.Thr263=)
 gnomAD v4
18g.22992910A>GCA503521084RBBP8c.1083A>G (p.Thr361=)
c.261A>G (p.Thr87=)
c.789A>G (p.Thr263=)
18g.22992910A>TCA503521085RBBP8c.1083A>T (p.Thr361=)
c.261A>T (p.Thr87=)
c.789A>T (p.Thr263=)
 gnomAD v4
18g.22992911C>ACA401776285RBBP8c.1084C>A (p.Leu362Ile)
c.262C>A (p.Leu88Ile)
c.790C>A (p.Leu264Ile)
18g.22992911C=CA2289916178RBBP8c.1084C= (p.Leu362=)
c.262C= (p.Leu88=)
c.790C= (p.Leu264=)
18g.22992911C>GCA401776288RBBP8c.1084C>G (p.Leu362Val)
c.262C>G (p.Leu88Val)
c.790C>G (p.Leu264Val)
18g.22992911C>TCA8910018RBBP8c.1084C>T (p.Leu362Phe)
c.262C>T (p.Leu88Phe)
c.790C>T (p.Leu264Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.22992912T>ACA401776293RBBP8c.1085T>A (p.Leu362His)
c.263T>A (p.Leu88His)
c.791T>A (p.Leu264His)
 COSMIC COSMIC
18g.22992912T>CCA401776295RBBP8c.1085T>C (p.Leu362Pro)
c.263T>C (p.Leu88Pro)
c.791T>C (p.Leu264Pro)
18g.22992912T>GCA401776291RBBP8c.1085T>G (p.Leu362Arg)
c.263T>G (p.Leu88Arg)
c.791T>G (p.Leu264Arg)
18g.22992913C>ACA503521088RBBP8c.1086C>A (p.Leu362=)
c.264C>A (p.Leu88=)
c.792C>A (p.Leu264=)
 gnomAD v4
18g.22992913C>GCA503521089RBBP8c.1086C>G (p.Leu362=)
c.264C>G (p.Leu88=)
c.792C>G (p.Leu264=)
18g.22992913C>TCA503521091RBBP8c.1086C>T (p.Leu362=)
c.264C>T (p.Leu88=)
c.792C>T (p.Leu264=)
18g.22992914C>ACA401776298RBBP8c.1087C>A (p.Pro363Thr)
c.265C>A (p.Pro89Thr)
c.793C>A (p.Pro265Thr)
 COSMIC COSMIC
18g.22992914C>GCA401776302RBBP8c.1087C>G (p.Pro363Ala)
c.265C>G (p.Pro89Ala)
c.793C>G (p.Pro265Ala)
18g.22992914C>TCA401776301RBBP8c.1087C>T (p.Pro363Ser)
c.265C>T (p.Pro89Ser)
c.793C>T (p.Pro265Ser)
18g.22992915C>ACA401776305RBBP8c.1088C>A (p.Pro363His)
c.266C>A (p.Pro89His)
c.794C>A (p.Pro265His)
18g.22992915C>GCA401776310RBBP8c.1088C>G (p.Pro363Arg)
c.266C>G (p.Pro89Arg)
c.794C>G (p.Pro265Arg)
18g.22992915C>TCA401776308RBBP8c.1088C>T (p.Pro363Leu)
c.266C>T (p.Pro89Leu)
c.794C>T (p.Pro265Leu)
18g.22992916T>ACA503521093RBBP8c.1089T>A (p.Pro363=)
c.267T>A (p.Pro89=)
c.795T>A (p.Pro265=)
18g.22992916T>CCA503521094RBBP8c.1089T>C (p.Pro363=)
c.267T>C (p.Pro89=)
c.795T>C (p.Pro265=)
18g.22992916T>GCA503521095RBBP8c.1089T>G (p.Pro363=)
c.267T>G (p.Pro89=)
c.795T>G (p.Pro265=)
 dbSNP
18g.22992916T=CA2289916181RBBP8c.1089T= (p.Pro363=)
c.267T= (p.Pro89=)
c.795T= (p.Pro265=)
18g.22992917T>ACA401776314RBBP8c.1090T>A (p.Phe364Ile)
c.268T>A (p.Phe90Ile)
c.796T>A (p.Phe266Ile)
18g.22992917T>CCA401776318RBBP8c.1090T>C (p.Phe364Leu)
c.268T>C (p.Phe90Leu)
c.796T>C (p.Phe266Leu)
18g.22992917T>GCA401776316RBBP8c.1090T>G (p.Phe364Val)
c.268T>G (p.Phe90Val)
c.796T>G (p.Phe266Val)
18g.22992918T>ACA401776320RBBP8c.1091T>A (p.Phe364Tyr)
c.269T>A (p.Phe90Tyr)
c.797T>A (p.Phe266Tyr)
18g.22992918T>CCA401776322RBBP8c.1091T>C (p.Phe364Ser)
c.269T>C (p.Phe90Ser)
c.797T>C (p.Phe266Ser)
18g.22992918T>GCA401776324RBBP8c.1091T>G (p.Phe364Cys)
c.269T>G (p.Phe90Cys)
c.797T>G (p.Phe266Cys)
18g.22992919T>ACA401776327RBBP8c.1092T>A (p.Phe364Leu)
c.270T>A (p.Phe90Leu)
c.798T>A (p.Phe266Leu)
18g.22992919T>CCA297050777RBBP8c.1092T>C (p.Phe364=)
c.270T>C (p.Phe90=)
c.798T>C (p.Phe266=)
 dbSNP gnomAD v4
18g.22992919T>GCA401776330RBBP8c.1092T>G (p.Phe364Leu)
c.270T>G (p.Phe90Leu)
c.798T>G (p.Phe266Leu)
18g.22992919T=CA2289916183RBBP8c.1092T= (p.Phe364=)
c.270T= (p.Phe90=)
c.798T= (p.Phe266=)
18g.22992920A=CA2289916187RBBP8c.1093A= (p.Ser365=)
c.271A= (p.Ser91=)
c.799A= (p.Ser267=)
18g.22992920A>CCA401776332RBBP8c.1093A>C (p.Ser365Arg)
c.271A>C (p.Ser91Arg)
c.799A>C (p.Ser267Arg)
 gnomAD v4
18g.22992920A>GCA401776335RBBP8c.1093A>G (p.Ser365Gly)
c.271A>G (p.Ser91Gly)
c.799A>G (p.Ser267Gly)
18g.22992920A>TCA401776338RBBP8c.1093A>T (p.Ser365Cys)
c.271A>T (p.Ser91Cys)
c.799A>T (p.Ser267Cys)
 dbSNP gnomAD v3 gnomAD v4
18g.22992921G>ACA401776345RBBP8c.1094G>A (p.Ser365Asn)
c.272G>A (p.Ser91Asn)
c.800G>A (p.Ser267Asn)
 dbSNP
18g.22992921G>CCA401776342RBBP8c.1094G>C (p.Ser365Thr)
c.272G>C (p.Ser91Thr)
c.800G>C (p.Ser267Thr)
18g.22992921G>TCA401776339RBBP8c.1094G>T (p.Ser365Ile)
c.272G>T (p.Ser91Ile)
c.800G>T (p.Ser267Ile)
18g.22992922C>ACA401776348RBBP8c.1095C>A (p.Ser365Arg)
c.273C>A (p.Ser91Arg)
c.801C>A (p.Ser267Arg)
18g.22992922C>GCA401776349RBBP8c.1095C>G (p.Ser365Arg)
c.273C>G (p.Ser91Arg)
c.801C>G (p.Ser267Arg)
18g.22992922C>TCA503521098RBBP8c.1095C>T (p.Ser365=)
c.273C>T (p.Ser91=)
c.801C>T (p.Ser267=)
 gnomAD v4
18g.22992923A>CCA401776352RBBP8c.1096A>C (p.Asn366His)
c.274A>C (p.Asn92His)
c.802A>C (p.Asn268His)
18g.22992923A>GCA401776354RBBP8c.1096A>G (p.Asn366Asp)
c.274A>G (p.Asn92Asp)
c.802A>G (p.Asn268Asp)
18g.22992923A>TCA401776357RBBP8c.1096A>T (p.Asn366Tyr)
c.274A>T (p.Asn92Tyr)
c.802A>T (p.Asn268Tyr)
18g.22992924A>CCA401776359RBBP8c.1097A>C (p.Asn366Thr)
c.275A>C (p.Asn92Thr)
c.803A>C (p.Asn268Thr)
18g.22992924A>GCA401776361RBBP8c.1097A>G (p.Asn366Ser)
c.275A>G (p.Asn92Ser)
c.803A>G (p.Asn268Ser)
18g.22992924A>TCA401776364RBBP8c.1097A>T (p.Asn366Ile)
c.275A>T (p.Asn92Ile)
c.803A>T (p.Asn268Ile)
18g.22992925C>ACA401776366RBBP8c.1098C>A (p.Asn366Lys)
c.276C>A (p.Asn92Lys)
c.804C>A (p.Asn268Lys)
18g.22992925C>GCA401776368RBBP8c.1098C>G (p.Asn366Lys)
c.276C>G (p.Asn92Lys)
c.804C>G (p.Asn268Lys)
18g.22992925C>TCA503521100RBBP8c.1098C>T (p.Asn366=)
c.276C>T (p.Asn92=)
c.804C>T (p.Asn268=)
18g.22992926A>CCA401776372RBBP8c.1099A>C (p.Thr367Pro)
c.277A>C (p.Thr93Pro)
c.805A>C (p.Thr269Pro)
18g.22992926A>GCA401776374RBBP8c.1099A>G (p.Thr367Ala)
c.277A>G (p.Thr93Ala)
c.805A>G (p.Thr269Ala)
18g.22992926A>TCA401776370RBBP8c.1099A>T (p.Thr367Ser)
c.277A>T (p.Thr93Ser)
c.805A>T (p.Thr269Ser)
18g.22992927C>ACA401776376RBBP8c.1100C>A (p.Thr367Asn)
c.278C>A (p.Thr93Asn)
c.806C>A (p.Thr269Asn)
18g.22992927C>GCA401776378RBBP8c.1100C>G (p.Thr367Ser)
c.278C>G (p.Thr93Ser)
c.806C>G (p.Thr269Ser)
18g.22992927C>TCA401776380RBBP8c.1100C>T (p.Thr367Ile)
c.278C>T (p.Thr93Ile)
c.806C>T (p.Thr269Ile)
18g.22992928T>ACA503521101RBBP8c.1101T>A (p.Thr367=)
c.279T>A (p.Thr93=)
c.807T>A (p.Thr269=)
18g.22992928T>CCA503521104RBBP8c.1101T>C (p.Thr367=)
c.279T>C (p.Thr93=)
c.807T>C (p.Thr269=)
 gnomAD v4
18g.22992928T>GCA503521102RBBP8c.1101T>G (p.Thr367=)
c.279T>G (p.Thr93=)
c.807T>G (p.Thr269=)
18g.22992929T>ACA401776383RBBP8c.1102T>A (p.Cys368Ser)
c.280T>A (p.Cys94Ser)
c.808T>A (p.Cys270Ser)
18g.22992929T>CCA401776386RBBP8c.1102T>C (p.Cys368Arg)
c.280T>C (p.Cys94Arg)
c.808T>C (p.Cys270Arg)
18g.22992929T>GCA401776387RBBP8c.1102T>G (p.Cys368Gly)
c.280T>G (p.Cys94Gly)
c.808T>G (p.Cys270Gly)
 gnomAD v4
18g.22992930G>ACA8910019RBBP8c.1103G>A (p.Cys368Tyr)
c.281G>A (p.Cys94Tyr)
c.809G>A (p.Cys270Tyr)
 ClinVar dbSNP ExAC gnomAD v2
18g.22992930G>CCA8910020RBBP8c.1103G>C (p.Cys368Ser)
c.281G>C (p.Cys94Ser)
c.809G>C (p.Cys270Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.22992930G=CA2289916189RBBP8c.1103G= (p.Cys368=)
c.281G= (p.Cys94=)
c.809G= (p.Cys270=)
18g.22992930G>TCA401776391RBBP8c.1103G>T (p.Cys368Phe)
c.281G>T (p.Cys94Phe)
c.809G>T (p.Cys270Phe)
18g.22992931T>ACA401776393RBBP8c.1104T>A (p.Cys368Ter)
c.282T>A (p.Cys94Ter)
c.810T>A (p.Cys270Ter)
18g.22992931T>CCA503521109RBBP8c.1104T>C (p.Cys368=)
c.282T>C (p.Cys94=)
c.810T>C (p.Cys270=)
18g.22992931T>GCA401776394RBBP8c.1104T>G (p.Cys368Trp)
c.282T>G (p.Cys94Trp)
c.810T>G (p.Cys270Trp)
18g.22992932A>CCA401776402RBBP8c.1105A>C (p.Ile369Leu)
c.283A>C (p.Ile95Leu)
c.811A>C (p.Ile271Leu)
18g.22992932A>GCA401776399RBBP8c.1105A>G (p.Ile369Val)
c.283A>G (p.Ile95Val)
c.811A>G (p.Ile271Val)
 gnomAD v4
18g.22992932A>TCA401776398RBBP8c.1105A>T (p.Ile369Leu)
c.283A>T (p.Ile95Leu)
c.811A>T (p.Ile271Leu)
18g.22992933T>ACA401776403RBBP8c.1106T>A (p.Ile369Lys)
c.284T>A (p.Ile95Lys)
c.812T>A (p.Ile271Lys)
18g.22992933T>CCA401776405RBBP8c.1106T>C (p.Ile369Thr)
c.284T>C (p.Ile95Thr)
c.812T>C (p.Ile271Thr)
18g.22992933T>GCA401776408RBBP8c.1106T>G (p.Ile369Arg)
c.284T>G (p.Ile95Arg)
c.812T>G (p.Ile271Arg)
18g.22992934A>CCA503521110RBBP8c.1107A>C (p.Ile369=)
c.285A>C (p.Ile95=)
c.813A>C (p.Ile271=)
18g.22992934A>GCA401776410RBBP8c.1107A>G (p.Ile369Met)
c.285A>G (p.Ile95Met)
c.813A>G (p.Ile271Met)
 gnomAD v4
18g.22992934A>TCA503521112RBBP8c.1107A>T (p.Ile369=)
c.285A>T (p.Ile95=)
c.813A>T (p.Ile271=)
18g.22992935T>ACA401776413RBBP8c.1108T>A (p.Ser370Thr)
c.286T>A (p.Ser96Thr)
c.814T>A (p.Ser272Thr)
18g.22992935T>CCA401776416RBBP8c.1108T>C (p.Ser370Pro)
c.286T>C (p.Ser96Pro)
c.814T>C (p.Ser272Pro)
 gnomAD v4
18g.22992935T>GCA401776418RBBP8c.1108T>G (p.Ser370Ala)
c.286T>G (p.Ser96Ala)
c.814T>G (p.Ser272Ala)
18g.22992936C>ACA401776420RBBP8c.1109C>A (p.Ser370Tyr)
c.287C>A (p.Ser96Tyr)
c.815C>A (p.Ser272Tyr)
18g.22992936C>GCA401776422RBBP8c.1109C>G (p.Ser370Cys)
c.287C>G (p.Ser96Cys)
c.815C>G (p.Ser272Cys)
18g.22992936C>TCA401776426RBBP8c.1109C>T (p.Ser370Phe)
c.287C>T (p.Ser96Phe)
c.815C>T (p.Ser272Phe)
 gnomAD v4

Number of alleles fetched