Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.182838414A>CCA430431986FRZBc.792T>G (p.Arg264=)
2g.182838414A>GCA430431987FRZBc.792T>C (p.Arg264=)
2g.182838414A>TCA430431988FRZBc.792T>A (p.Arg264=)
2g.182838415C>ACA349750152FRZBc.791G>T (p.Arg264Leu)
gnomAD v4
2g.182838415C=CA1312515835FRZBc.791G= (p.Arg264=)
2g.182838415C>GCA349750153FRZBc.791G>C (p.Arg264Pro)
2g.182838415C>TCA2013936FRZBc.791G>A (p.Arg264His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.182838416G>ACA2013937FRZBc.790C>T (p.Arg264Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.182838416G>CCA349750154FRZBc.790C>G (p.Arg264Gly)
2g.182838416G=CA1312515836FRZBc.790C= (p.Arg264=)
2g.182838416G>TCA349750155FRZBc.790C>A (p.Arg264Ser)
gnomAD v4
2g.182838417T>ACA349750156FRZBc.789A>T (p.Glu263Asp)
2g.182838417T>CCA61680056FRZBc.789A>G (p.Glu263=)
dbSNP gnomAD v4 COSMIC
2g.182838417T>GCA349750157FRZBc.789A>C (p.Glu263Asp)
2g.182838417T=CA1312515837FRZBc.789A= (p.Glu263=)
2g.182838418T>ACA349750158FRZBc.788A>T (p.Glu263Val)
2g.182838418T>CCA349750159FRZBc.788A>G (p.Glu263Gly)
2g.182838418T>GCA349750160FRZBc.788A>C (p.Glu263Ala)
2g.182838419C>ACA349750162FRZBc.787G>T (p.Glu263Ter)
2g.182838419C=CA1312515838FRZBc.787G= (p.Glu263=)
2g.182838419C>GCA349750161FRZBc.787G>C (p.Glu263Gln)
2g.182838419C>TCA2013938FRZBc.787G>A (p.Glu263Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.182838420C>ACA349750163FRZBc.786G>T (p.Glu262Asp)
2g.182838420C>GCA349750164FRZBc.786G>C (p.Glu262Asp)
2g.182838420C>TCA430431998FRZBc.786G>A (p.Glu262=)
2g.182838421T>ACA349750165FRZBc.785A>T (p.Glu262Val)
2g.182838421T>CCA349750166FRZBc.785A>G (p.Glu262Gly)
2g.182838421T>GCA349750167FRZBc.785A>C (p.Glu262Ala)
COSMIC
2g.182838422C>ACA349750168FRZBc.784G>T (p.Glu262Ter)
2g.182838422C>GCA349750169FRZBc.784G>C (p.Glu262Gln)
2g.182838422C>TCA349750170FRZBc.784G>A (p.Glu262Lys)
2g.182838423A>CCA349750171FRZBc.783T>G (p.Asp261Glu)
2g.182838423A>GCA430432005FRZBc.783T>C (p.Asp261=)
gnomAD v4
2g.182838423A>TCA349750172FRZBc.783T>A (p.Asp261Glu)
2g.182838424T>ACA349750173FRZBc.782A>T (p.Asp261Val)
2g.182838424T>CCA349750174FRZBc.782A>G (p.Asp261Gly)
2g.182838424T>GCA349750175FRZBc.782A>C (p.Asp261Ala)
2g.182838425C>ACA349750181FRZBc.781G>T (p.Asp261Tyr)
dbSNP gnomAD v2 gnomAD v4
2g.182838425C=CA1312515839FRZBc.781G= (p.Asp261=)
2g.182838425C>GCA349750179FRZBc.781G>C (p.Asp261His)
2g.182838425C>TCA349750177FRZBc.781G>A (p.Asp261Asn)
2g.182838426T>ACA349750183FRZBc.780A>T (p.Glu260Asp)
2g.182838426T>CCA430432018FRZBc.780A>G (p.Glu260=)
2g.182838426T>GCA349750184FRZBc.780A>C (p.Glu260Asp)
2g.182838427T>ACA349750187FRZBc.779A>T (p.Glu260Val)
2g.182838427T>CCA349750189FRZBc.779A>G (p.Glu260Gly)
2g.182838427T>GCA349750190FRZBc.779A>C (p.Glu260Ala)
2g.182838427_182838428delinsTCCA1312515840FRZBc.778_779delinsGA (p.Glu260=)
2g.182838428delCA761677570FRZBc.778del (p.Glu260LysfsTer15)
dbSNP
2g.182838428C>ACA349750193FRZBc.778G>T (p.Glu260Ter)
dbSNP gnomAD v4
2g.182838428C=CA1312515841FRZBc.778G= (p.Glu260=)
2g.182838428C>GCA349750195FRZBc.778G>C (p.Glu260Gln)
2g.182838428C>TCA349750196FRZBc.778G>A (p.Glu260Lys)
dbSNP gnomAD v2
2g.182838429A=CA1312515842FRZBc.777T= (p.Tyr259=)
2g.182838429A>CCA349750198FRZBc.777T>G (p.Tyr259Ter)
2g.182838429A>GCA430432029FRZBc.777T>C (p.Tyr259=)
gnomAD v4
2g.182838429A>TCA349750200FRZBc.777T>A (p.Tyr259Ter)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.182838430T>ACA349750202FRZBc.776A>T (p.Tyr259Phe)
2g.182838430T>CCA349750204FRZBc.776A>G (p.Tyr259Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.182838430T>GCA349750206FRZBc.776A>C (p.Tyr259Ser)
2g.182838430T=CA1312515843FRZBc.776A= (p.Tyr259=)
2g.182838431A>CCA349750210FRZBc.775T>G (p.Tyr259Asp)
2g.182838431A>GCA349750212FRZBc.775T>C (p.Tyr259His)
2g.182838431A>TCA349750209FRZBc.775T>A (p.Tyr259Asn)
2g.182838432G>ACA430432032FRZBc.774C>T (p.Gly258=)
2g.182838432G>CCA430432034FRZBc.774C>G (p.Gly258=)
dbSNP gnomAD v2 gnomAD v4
2g.182838432G=CA1312515844FRZBc.774C= (p.Gly258=)
2g.182838432G>TCA430432033FRZBc.774C>A (p.Gly258=)
2g.182838433C>ACA349750215FRZBc.773G>T (p.Gly258Val)
2g.182838433C>GCA349750219FRZBc.773G>C (p.Gly258Ala)
2g.182838433C>TCA349750217FRZBc.773G>A (p.Gly258Asp)
2g.182838434C>ACA349750221FRZBc.772G>T (p.Gly258Cys)
2g.182838434C>GCA349750222FRZBc.772G>C (p.Gly258Arg)
2g.182838434C>TCA349750223FRZBc.772G>A (p.Gly258Ser)
2g.182838435C>ACA349750226FRZBc.771G>T (p.Met257Ile)
2g.182838435C>GCA349750228FRZBc.771G>C (p.Met257Ile)
2g.182838435C>TCA349750229FRZBc.771G>A (p.Met257Ile)
gnomAD v4
2g.182838436A=CA1312515845FRZBc.770T= (p.Met257=)
2g.182838436A>CCA349750231FRZBc.770T>G (p.Met257Arg)
2g.182838436A>GCA2013939FRZBc.770T>C (p.Met257Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.182838436A>TCA349750234FRZBc.770T>A (p.Met257Lys)
2g.182838437T>ACA349750237FRZBc.769A>T (p.Met257Leu)
dbSNP gnomAD v2 gnomAD v4
2g.182838437T>CCA349750240FRZBc.769A>G (p.Met257Val)
2g.182838437T>GCA349750242FRZBc.769A>C (p.Met257Leu)
2g.182838437T=CA1312515846FRZBc.769A= (p.Met257=)
2g.182838438G>ACA430432040FRZBc.768C>T (p.Ile256=)
2g.182838438G>CCA349750244FRZBc.768C>G (p.Ile256Met)
2g.182838438G>TCA430432042FRZBc.768C>A (p.Ile256=)
COSMIC
2g.182838439A>CCA349750246FRZBc.767T>G (p.Ile256Ser)
2g.182838439A>GCA349750250FRZBc.767T>C (p.Ile256Thr)
2g.182838439A>TCA349750248FRZBc.767T>A (p.Ile256Asn)
2g.182838440T>ACA349750253FRZBc.766A>T (p.Ile256Phe)
2g.182838440T>CCA349750255FRZBc.766A>G (p.Ile256Val)
2g.182838440T>GCA349750257FRZBc.766A>C (p.Ile256Leu)
gnomAD v4
2g.182838441G>ACA430432044FRZBc.765C>T (p.Ile255=)
2g.182838441G>CCA349750259FRZBc.765C>G (p.Ile255Met)
2g.182838441G=CA1312515847FRZBc.765C= (p.Ile255=)
2g.182838441G>TCA61680064FRZBc.765C>A (p.Ile255=)
dbSNP gnomAD v4
2g.182838442A=CA1312515848FRZBc.764T= (p.Ile255=)
2g.182838442A>CCA349750261FRZBc.764T>G (p.Ile255Ser)
2g.182838442A>GCA349750263FRZBc.764T>C (p.Ile255Thr)
2g.182838442A>TCA349750265FRZBc.764T>A (p.Ile255Asn)
dbSNP
2g.182838443T>ACA349750267FRZBc.763A>T (p.Ile255Phe)
gnomAD v4
2g.182838443T>CCA349750269FRZBc.763A>G (p.Ile255Val)
gnomAD v4
2g.182838443T>GCA349750270FRZBc.763A>C (p.Ile255Leu)
2g.182838444A=CA1312515849FRZBc.762T= (p.Tyr254=)
2g.182838444A>CCA349750275FRZBc.762T>G (p.Tyr254Ter)
2g.182838444A>GCA2013940FRZBc.762T>C (p.Tyr254=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.182838444A>TCA349750272FRZBc.762T>A (p.Tyr254Ter)
2g.182838445T>ACA349750278FRZBc.761A>T (p.Tyr254Phe)
2g.182838445T>CCA349750280FRZBc.761A>G (p.Tyr254Cys)
gnomAD v4
2g.182838445T>GCA349750282FRZBc.761A>C (p.Tyr254Ser)
2g.182838446A>CCA349750284FRZBc.760T>G (p.Tyr254Asp)
2g.182838446A>GCA349750285FRZBc.760T>C (p.Tyr254His)
COSMIC
2g.182838446A>TCA349750287FRZBc.760T>A (p.Tyr254Asn)
2g.182838447T>ACA349750289FRZBc.759A>T (p.Glu253Asp)
2g.182838447T>CCA430432050FRZBc.759A>G (p.Glu253=)
2g.182838447T>GCA349750290FRZBc.759A>C (p.Glu253Asp)
2g.182838448T>ACA349750294FRZBc.758A>T (p.Glu253Val)
2g.182838448T>CCA349750295FRZBc.758A>G (p.Glu253Gly)
2g.182838448T>GCA349750297FRZBc.758A>C (p.Glu253Ala)
2g.182838449C>ACA349750300FRZBc.757G>T (p.Glu253Ter)
gnomAD v4
2g.182838449C>GCA349750301FRZBc.757G>C (p.Glu253Gln)
2g.182838449C>TCA349750304FRZBc.757G>A (p.Glu253Lys)
2g.182838450C>ACA349750306FRZBc.756G>T (p.Glu252Asp)
2g.182838450C=CA1312515850FRZBc.756G= (p.Glu252=)
2g.182838450C>GCA349750307FRZBc.756G>C (p.Glu252Asp)
gnomAD v4
2g.182838450C>TCA430432051FRZBc.756G>A (p.Glu252=)
dbSNP gnomAD v2 gnomAD v4
2g.182838451T>ACA61680071FRZBc.755A>T (p.Glu252Val)
dbSNP
2g.182838451T>CCA349750309FRZBc.755A>G (p.Glu252Gly)
COSMIC
2g.182838451T>GCA349750311FRZBc.755A>C (p.Glu252Ala)
2g.182838451T=CA1312515851FRZBc.755A= (p.Glu252=)
2g.182838452C>ACA349750314FRZBc.754G>T (p.Glu252Ter)
2g.182838452C=CA1312515852FRZBc.754G= (p.Glu252=)
2g.182838452C>GCA349750315FRZBc.754G>C (p.Glu252Gln)
gnomAD v4
2g.182838452C>TCA349750317FRZBc.754G>A (p.Glu252Lys)
dbSNP gnomAD v4
2g.182838458_182838463delCA2577180415FRZBc.749_754del (p.Val250_Asn251del)
2g.182838453A=CA1312515853FRZBc.753T= (p.Asn251=)
2g.182838453A>CCA349750319FRZBc.753T>G (p.Asn251Lys)
2g.182838453A>GCA2013941FRZBc.753T>C (p.Asn251=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.182838453A>TCA349750322FRZBc.753T>A (p.Asn251Lys)
2g.182838454T>ACA349750324FRZBc.752A>T (p.Asn251Ile)
2g.182838454T>CCA2013942FRZBc.752A>G (p.Asn251Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.182838454T>GCA349750327FRZBc.752A>C (p.Asn251Thr)
dbSNP gnomAD v2 gnomAD v4
2g.182838454T=CA1312515854FRZBc.752A= (p.Asn251=)
2g.182838455T>ACA349750329FRZBc.751A>T (p.Asn251Tyr)
gnomAD v4
2g.182838455T>CCA349750333FRZBc.751A>G (p.Asn251Asp)
2g.182838455T>GCA349750331FRZBc.751A>C (p.Asn251His)
gnomAD v4
2g.182838456A>CCA430432053FRZBc.750T>G (p.Val250=)
2g.182838456A>GCA430432054FRZBc.750T>C (p.Val250=)
gnomAD v4
2g.182838456A>TCA430432055FRZBc.750T>A (p.Val250=)
2g.182838457A>CCA349750334FRZBc.749T>G (p.Val250Gly)
2g.182838457A>GCA349750338FRZBc.749T>C (p.Val250Ala)
2g.182838457A>TCA349750336FRZBc.749T>A (p.Val250Asp)
2g.182838458C>ACA349750340FRZBc.748G>T (p.Val250Phe)
2g.182838458C=CA1312515855FRZBc.748G= (p.Val250=)
2g.182838458C>GCA349750344FRZBc.748G>C (p.Val250Leu)
dbSNP gnomAD v3 gnomAD v4
2g.182838458C>TCA349750342FRZBc.748G>A (p.Val250Ile)
dbSNP gnomAD v4
2g.182838459A=CA1312515856FRZBc.747T= (p.Asn249=)
2g.182838459A>CCA349750346FRZBc.747T>G (p.Asn249Lys)
2g.182838459A>GCA430432056FRZBc.747T>C (p.Asn249=)
2g.182838459A>TCA2013943FRZBc.747T>A (p.Asn249Lys)
dbSNP ExAC gnomAD v2
2g.182838460T>ACA349750350FRZBc.746A>T (p.Asn249Ile)
2g.182838460T>CCA349750352FRZBc.746A>G (p.Asn249Ser)
2g.182838460T>GCA349750353FRZBc.746A>C (p.Asn249Thr)
2g.182838461T>ACA349750355FRZBc.745A>T (p.Asn249Tyr)
2g.182838461T>CCA349750357FRZBc.745A>G (p.Asn249Asp)
2g.182838461T>GCA349750359FRZBc.745A>C (p.Asn249His)
2g.182838462A>CCA430432057FRZBc.744T>G (p.Leu248=)
2g.182838462A>GCA430432058FRZBc.744T>C (p.Leu248=)
2g.182838462A>TCA430432059FRZBc.744T>A (p.Leu248=)
2g.182838463A>CCA349750362FRZBc.743T>G (p.Leu248Arg)
2g.182838463A>GCA349750364FRZBc.743T>C (p.Leu248Pro)
2g.182838463A>TCA349750366FRZBc.743T>A (p.Leu248His)
2g.182838464G>ACA349750372FRZBc.742C>T (p.Leu248Phe)
dbSNP gnomAD v4
2g.182838464G>CCA349750368FRZBc.742C>G (p.Leu248Val)
2g.182838464G=CA1312515857FRZBc.742C= (p.Leu248=)
2g.182838464G>TCA349750370FRZBc.742C>A (p.Leu248Ile)
gnomAD v4
2g.182838465T>ACA430432060FRZBc.741A>T (p.Pro247=)
2g.182838465T>CCA2013944FRZBc.741A>G (p.Pro247=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.182838465T>GCA430432061FRZBc.741A>C (p.Pro247=)
2g.182838465T=CA1312515858FRZBc.741A= (p.Pro247=)
2g.182838466G>ACA349750375FRZBc.740C>T (p.Pro247Leu)
2g.182838466G>CCA349750378FRZBc.740C>G (p.Pro247Arg)
2g.182838466G>TCA349750380FRZBc.740C>A (p.Pro247Gln)
2g.182838467G>ACA349750382FRZBc.739C>T (p.Pro247Ser)
dbSNP gnomAD v2 gnomAD v4
2g.182838467G>CCA349750384FRZBc.739C>G (p.Pro247Ala)
2g.182838467G=CA1312515859FRZBc.739C= (p.Pro247=)
2g.182838467G>TCA349750385FRZBc.739C>A (p.Pro247Thr)
2g.182838468A>CCA430432062FRZBc.738T>G (p.Pro246=)
gnomAD v4
2g.182838468A>GCA430432063FRZBc.738T>C (p.Pro246=)
2g.182838468A>TCA430432064FRZBc.738T>A (p.Pro246=)
2g.182838469G>ACA349750388FRZBc.737C>T (p.Pro246Leu)
dbSNP gnomAD v3 gnomAD v4
2g.182838469G>CCA349750389FRZBc.737C>G (p.Pro246Arg)
2g.182838469G=CA1312515860FRZBc.737C= (p.Pro246=)
2g.182838469G>TCA349750391FRZBc.737C>A (p.Pro246His)
2g.182838471delCA2662236418FRZBc.737del (p.Pro246LeufsTer29)
gnomAD v4
2g.182838470G>ACA61680092FRZBc.736C>T (p.Pro246Ser)
dbSNP gnomAD v4 COSMIC
2g.182838470G>CCA349750396FRZBc.736C>G (p.Pro246Ala)
2g.182838470G=CA1312515861FRZBc.736C= (p.Pro246=)
2g.182838470G>TCA349750394FRZBc.736C>A (p.Pro246Thr)
2g.182838471G>ACA430432065FRZBc.735C>T (p.Cys245=)
dbSNP gnomAD v2 gnomAD v4
2g.182838471G>CCA349750398FRZBc.735C>G (p.Cys245Trp)
2g.182838471G=CA1312515862FRZBc.735C= (p.Cys245=)
2g.182838471G>TCA349750400FRZBc.735C>A (p.Cys245Ter)
dbSNP gnomAD v2 gnomAD v4
2g.182838472C>ACA349750401FRZBc.734G>T (p.Cys245Phe)
2g.182838472C=CA1312515863FRZBc.734G= (p.Cys245=)
2g.182838472C>GCA349750402FRZBc.734G>C (p.Cys245Ser)
2g.182838472C>TCA349750403FRZBc.734G>A (p.Cys245Tyr)
dbSNP gnomAD v4
2g.182838473A=CA1312515864FRZBc.733T= (p.Cys245=)
2g.182838473A>CCA349750406FRZBc.733T>G (p.Cys245Gly)
dbSNP
2g.182838473A>GCA349750408FRZBc.733T>C (p.Cys245Arg)
gnomAD v4
2g.182838473A>TCA349750410FRZBc.733T>A (p.Cys245Ser)
2g.182838474G>ACA430432068FRZBc.732C>T (p.Leu244=)
2g.182838474G>CCA430432067FRZBc.732C>G (p.Leu244=)
2g.182838474G>TCA430432066FRZBc.732C>A (p.Leu244=)
2g.182838475A>CCA349750412FRZBc.731T>G (p.Leu244Arg)
2g.182838475A>GCA349750414FRZBc.731T>C (p.Leu244Pro)
2g.182838475A>TCA349750415FRZBc.731T>A (p.Leu244His)
2g.182838476G>ACA349750421FRZBc.730C>T (p.Leu244Phe)
2g.182838476G>CCA349750419FRZBc.730C>G (p.Leu244Val)
2g.182838476G>TCA349750417FRZBc.730C>A (p.Leu244Ile)
2g.182838477G>ACA430432069FRZBc.729C>T (p.Cys243=)
2g.182838477G>CCA349750423FRZBc.729C>G (p.Cys243Trp)
gnomAD v4
2g.182838477G>TCA349750425FRZBc.729C>A (p.Cys243Ter)
gnomAD v4
2g.182838478C>ACA349750427FRZBc.728G>T (p.Cys243Phe)
2g.182838478C>GCA349750429FRZBc.728G>C (p.Cys243Ser)
gnomAD v4
2g.182838478C>TCA349750431FRZBc.728G>A (p.Cys243Tyr)
gnomAD v4
2g.182838479A>CCA349750432FRZBc.727T>G (p.Cys243Gly)
2g.182838479A>GCA349750434FRZBc.727T>C (p.Cys243Arg)
2g.182838479A>TCA349750436FRZBc.727T>A (p.Cys243Ser)
2g.182838480G>ACA61680093FRZBc.726C>T (p.Gly242=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.182838480G>CCA430432070FRZBc.726C>G (p.Gly242=)
2g.182838480G=CA1312515865FRZBc.726C= (p.Gly242=)
2g.182838480G>TCA430432071FRZBc.726C>A (p.Gly242=)
2g.182838481C>ACA349750440FRZBc.725G>T (p.Gly242Val)
2g.182838481C>GCA349750441FRZBc.725G>C (p.Gly242Ala)
2g.182838481C>TCA349750443FRZBc.725G>A (p.Gly242Asp)
2g.182838482C>ACA349750447FRZBc.724G>T (p.Gly242Cys)
2g.182838482C>GCA349750449FRZBc.724G>C (p.Gly242Arg)
2g.182838482C>TCA349750445FRZBc.724G>A (p.Gly242Ser)
2g.182838483A>CCA430432072FRZBc.723T>G (p.Ser241=)
2g.182838483A>GCA430432073FRZBc.723T>C (p.Ser241=)
dbSNP
2g.182838483A>TCA430432074FRZBc.723T>A (p.Ser241=)
2g.182838484G>ACA349750455FRZBc.722C>T (p.Ser241Phe)
gnomAD v4
2g.182838484G>CCA349750452FRZBc.722C>G (p.Ser241Cys)
gnomAD v4
2g.182838484G>TCA349750453FRZBc.722C>A (p.Ser241Tyr)
2g.182838485A>CCA349750457FRZBc.721T>G (p.Ser241Ala)
2g.182838485A>GCA349750459FRZBc.721T>C (p.Ser241Pro)
2g.182838485A>TCA349750461FRZBc.721T>A (p.Ser241Thr)
2g.182838486G>ACA430432075FRZBc.720C>T (p.Ser240=)
COSMIC
2g.182838486G>CCA349750462FRZBc.720C>G (p.Ser240Arg)
2g.182838486G>TCA349750464FRZBc.720C>A (p.Ser240Arg)
2g.182838487C>ACA349750466FRZBc.719G>T (p.Ser240Ile)
2g.182838487C=CA1312515866FRZBc.719G= (p.Ser240=)
2g.182838487C>GCA349750468FRZBc.719G>C (p.Ser240Thr)
2g.182838487C>TCA349750470FRZBc.719G>A (p.Ser240Asn)
dbSNP
2g.182838488T>ACA349750472FRZBc.718A>T (p.Ser240Cys)
2g.182838488T>CCA349750474FRZBc.718A>G (p.Ser240Gly)
gnomAD v4
2g.182838488T>GCA349750476FRZBc.718A>C (p.Ser240Arg)
2g.182838488_182838496delinsTGGTATAGACA1312515867FRZBc.710_718delinsTCTATACCA (p.Leu237=)
2g.182838489G>ACA430432076FRZBc.717C>T (p.Thr239=)
dbSNP gnomAD v4
2g.182838489G>CCA430432078FRZBc.717C>G (p.Thr239=)
2g.182838489G=CA1312515868FRZBc.717C= (p.Thr239=)
2g.182838489G>TCA430432079FRZBc.717C>A (p.Thr239=)
2g.182838492_182838499dupCA538439243FRZBc.710_717dup (p.Ser241IlefsTer?)
dbSNP gnomAD v2 gnomAD v4
2g.182838492_182838499delCA538439242FRZBc.710_717del (p.Leu237GlnfsTer10)
dbSNP gnomAD v2 gnomAD v4
2g.182838490G>ACA349750478FRZBc.716C>T (p.Thr239Ile)
gnomAD v4
2g.182838490G>CCA349750482FRZBc.716C>G (p.Thr239Ser)
2g.182838490G>TCA349750480FRZBc.716C>A (p.Thr239Asn)
2g.182838491T>ACA349750484FRZBc.715A>T (p.Thr239Ser)
2g.182838491T>CCA2013945FRZBc.715A>G (p.Thr239Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.182838491T>GCA349750487FRZBc.715A>C (p.Thr239Pro)
2g.182838491T=CA1312515869FRZBc.715A= (p.Thr239=)
2g.182838492A=CA1312515870FRZBc.714T= (p.Tyr238=)
2g.182838492A>CCA349750489FRZBc.714T>G (p.Tyr238Ter)
2g.182838492A>GCA430432081FRZBc.714T>C (p.Tyr238=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.182838492A>TCA349750491FRZBc.714T>A (p.Tyr238Ter)
2g.182838493T>ACA349750492FRZBc.713A>T (p.Tyr238Phe)
2g.182838493T>CCA61680101FRZBc.713A>G (p.Tyr238Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.182838493T>GCA349750495FRZBc.713A>C (p.Tyr238Ser)
2g.182838493T=CA1312515871FRZBc.713A= (p.Tyr238=)
2g.182838494A>CCA349750497FRZBc.712T>G (p.Tyr238Asp)
2g.182838494A>GCA349750499FRZBc.712T>C (p.Tyr238His)
2g.182838494A>TCA349750501FRZBc.712T>A (p.Tyr238Asn)
2g.182838495G>ACA430432084FRZBc.711C>T (p.Leu237=)
2g.182838495G>CCA430432083FRZBc.711C>G (p.Leu237=)
2g.182838495G>TCA430432082FRZBc.711C>A (p.Leu237=)
2g.182838496A>CCA349750505FRZBc.710T>G (p.Leu237Arg)
gnomAD v4
2g.182838496A>GCA349750507FRZBc.710T>C (p.Leu237Pro)
2g.182838496A>TCA349750504FRZBc.710T>A (p.Leu237His)
2g.182838497G>ACA349750509FRZBc.709C>T (p.Leu237Phe)
2g.182838497G>CCA349750511FRZBc.709C>G (p.Leu237Val)
2g.182838497G>TCA349750513FRZBc.709C>A (p.Leu237Ile)
2g.182838498G>ACA430432087FRZBc.708C>T (p.Asn236=)
2g.182838498G>CCA349750514FRZBc.708C>G (p.Asn236Lys)
2g.182838498G>TCA349750516FRZBc.708C>A (p.Asn236Lys)
2g.182838499T>ACA349750517FRZBc.707A>T (p.Asn236Ile)
2g.182838499T>CCA2013946FRZBc.707A>G (p.Asn236Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.182838499T>GCA349750520FRZBc.707A>C (p.Asn236Thr)
dbSNP
2g.182838499T=CA1312515872FRZBc.707A= (p.Asn236=)
2g.182838500T>ACA349750522FRZBc.706A>T (p.Asn236Tyr)
dbSNP gnomAD v2 gnomAD v4
2g.182838500T>CCA349750524FRZBc.706A>G (p.Asn236Asp)
2g.182838500T>GCA349750526FRZBc.706A>C (p.Asn236His)
2g.182838500T=CA1312515873FRZBc.706A= (p.Asn236=)
2g.182838501G>ACA2013947FRZBc.705C>T (p.Val235=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.182838501G>CCA430432095FRZBc.705C>G (p.Val235=)
2g.182838501G=CA1312515874FRZBc.705C= (p.Val235=)
2g.182838501G>TCA430432096FRZBc.705C>A (p.Val235=)
2g.182838502A=CA1312515875FRZBc.704T= (p.Val235=)
2g.182838502A>CCA349750531FRZBc.704T>G (p.Val235Gly)
2g.182838502A>GCA2013948FRZBc.704T>C (p.Val235Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.182838502A>TCA349750529FRZBc.704T>A (p.Val235Asp)
2g.182838503C>ACA349750535FRZBc.703G>T (p.Val235Phe)
2g.182838503C=CA1312515876FRZBc.703G= (p.Val235=)
2g.182838503C>GCA349750537FRZBc.703G>C (p.Val235Leu)
dbSNP gnomAD v2 gnomAD v4
2g.182838503C>TCA349750539FRZBc.703G>A (p.Val235Ile)
2g.182838504A>CCA430432100FRZBc.702T>G (p.Thr234=)
2g.182838504A>GCA430432101FRZBc.702T>C (p.Thr234=)
2g.182838504A>TCA430432102FRZBc.702T>A (p.Thr234=)
2g.182838504_182838505insTTTTTCTTGGCA2564217854FRZBc.701_702insCCAAGAAAAA (p.Val235GlnfsTer18)
2g.182838505G>ACA349750541FRZBc.701C>T (p.Thr234Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.182838505G>CCA349750543FRZBc.701C>G (p.Thr234Ser)
2g.182838505G=CA1312515877FRZBc.701C= (p.Thr234=)
2g.182838505G>TCA349750544FRZBc.701C>A (p.Thr234Asn)
2g.182838506T>ACA349750550FRZBc.700A>T (p.Thr234Ser)
2g.182838506T>CCA349750547FRZBc.700A>G (p.Thr234Ala)
2g.182838506T>GCA349750549FRZBc.700A>C (p.Thr234Pro)
2g.182838507G>ACA430432104FRZBc.699C>T (p.Asp233=)
dbSNP
2g.182838507G>CCA349750554FRZBc.699C>G (p.Asp233Glu)
2g.182838507G=CA1312515878FRZBc.699C= (p.Asp233=)
2g.182838507G>TCA349750555FRZBc.699C>A (p.Asp233Glu)
2g.182838508T>ACA349750558FRZBc.698A>T (p.Asp233Val)
2g.182838508T>CCA349750560FRZBc.698A>G (p.Asp233Gly)
2g.182838508T>GCA349750561FRZBc.698A>C (p.Asp233Ala)
2g.182838509C>ACA349750568FRZBc.697G>T (p.Asp233Tyr)
gnomAD v4 COSMIC
2g.182838509C>GCA349750566FRZBc.697G>C (p.Asp233His)
2g.182838509C>TCA349750565FRZBc.697G>A (p.Asp233Asn)
gnomAD v4
2g.182838510C>ACA430432105FRZBc.696G>T (p.Arg232=)
2g.182838510C=CA1312515879FRZBc.696G= (p.Arg232=)
2g.182838510C>GCA2013949FRZBc.696G>C (p.Arg232=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.182838510C>TCA430432106FRZBc.696G>A (p.Arg232=)
2g.182838511C>ACA349750574FRZBc.695G>T (p.Arg232Leu)
2g.182838511C=CA1312515880FRZBc.695G= (p.Arg232=)
2g.182838511C>GCA349750572FRZBc.695G>C (p.Arg232Pro)
2g.182838511C>TCA2013950FRZBc.695G>A (p.Arg232Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.182838512G>ACA2013951FRZBc.694C>T (p.Arg232Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.182838512G>CCA349750579FRZBc.694C>G (p.Arg232Gly)
2g.182838512G=CA1312515881FRZBc.694C= (p.Arg232=)
2g.182838512G>TCA430432108FRZBc.694C>A (p.Arg232=)
2g.182838513T>ACA430432109FRZBc.693A>T (p.Pro231=)
dbSNP gnomAD v2 gnomAD v4
2g.182838513T>CCA430432110FRZBc.693A>G (p.Pro231=)
dbSNP gnomAD v2 gnomAD v4
2g.182838513T>GCA430432111FRZBc.693A>C (p.Pro231=)
2g.182838513T=CA1312515882FRZBc.693A= (p.Pro231=)
2g.182838514G>ACA349750581FRZBc.692C>T (p.Pro231Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.182838514G>CCA349750585FRZBc.692C>G (p.Pro231Arg)
2g.182838514G=CA1312515883FRZBc.692C= (p.Pro231=)
2g.182838514G>TCA349750583FRZBc.692C>A (p.Pro231Gln)

Number of alleles fetched