Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.60372140G>ACA504305372MC4Rc.210C>T (p.Ala70=)
gnomAD v4
18g.60372140G>CCA504305374MC4Rc.210C>G (p.Ala70=)
18g.60372140G=CA2307359309MC4Rc.210C= (p.Ala70=)
18g.60372140G>TCA8980962MC4Rc.210C>A (p.Ala70=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.60372141G>ACA402720305MC4Rc.209C>T (p.Ala70Val)
dbSNP COSMIC
18g.60372141G>CCA402720306MC4Rc.209C>G (p.Ala70Gly)
dbSNP gnomAD v2 gnomAD v4
18g.60372141G=CA2307359310MC4Rc.209C= (p.Ala70=)
18g.60372141G>TCA402720307MC4Rc.209C>A (p.Ala70Asp)
18g.60372142C>ACA402720308MC4Rc.208G>T (p.Ala70Ser)
18g.60372142C>GCA402720309MC4Rc.208G>C (p.Ala70Pro)
18g.60372142C>TCA402720310MC4Rc.208G>A (p.Ala70Thr)
dbSNP gnomAD v4
18g.60372143T>ACA504305381MC4Rc.207A>T (p.Ile69=)
18g.60372143T>CCA402720311MC4Rc.207A>G (p.Ile69Met)
18g.60372143T>GCA504305382MC4Rc.207A>C (p.Ile69=)
18g.60372144A=CA2307359311MC4Rc.206T= (p.Ile69=)
18g.60372144A>CCA209140MC4Rc.206T>G (p.Ile69Arg)
ClinVar dbSNP
18g.60372144A>GCA8980963MC4Rc.206T>C (p.Ile69Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.60372144A>TCA402720312MC4Rc.206T>A (p.Ile69Lys)
18g.60372145T>ACA402720313MC4Rc.205A>T (p.Ile69Leu)
18g.60372145T>CCA402720315MC4Rc.205A>G (p.Ile69Val)
18g.60372145T>GCA402720314MC4Rc.205A>C (p.Ile69Leu)
18g.60372146dupCA2576516486MC4Rc.205dup (p.Ile69AsnfsTer22)
18g.60372146T>ACA504305388MC4Rc.204A>T (p.Ala68=)
18g.60372146T>CCA8980964MC4Rc.204A>G (p.Ala68=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.60372146T>GCA504305387MC4Rc.204A>C (p.Ala68=)
18g.60372146T=CA2307359312MC4Rc.204A= (p.Ala68=)
18g.60372147G>ACA402720316MC4Rc.203C>T (p.Ala68Val)
dbSNP gnomAD v2 gnomAD v4
18g.60372147G>CCA402720317MC4Rc.203C>G (p.Ala68Gly)
18g.60372147G=CA2307359313MC4Rc.203C= (p.Ala68=)
18g.60372147G>TCA402720318MC4Rc.203C>A (p.Ala68Glu)
18g.60372148C>ACA402720319MC4Rc.202G>T (p.Ala68Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.60372148C=CA2307359314MC4Rc.202G= (p.Ala68=)
18g.60372148C>GCA402720320MC4Rc.202G>C (p.Ala68Pro)
18g.60372148C>TCA402720321MC4Rc.202G>A (p.Ala68Thr)
gnomAD v4 COSMIC
18g.60372149C>ACA504305396MC4Rc.201G>T (p.Val67=)
18g.60372149C=CA2307359315MC4Rc.201G= (p.Val67=)
18g.60372149C>GCA504305394MC4Rc.201G>C (p.Val67=)
18g.60372149C>TCA10648047MC4Rc.201G>A (p.Val67=)
ClinVar dbSNP gnomAD v2 gnomAD v4
18g.60372150A=CA2307359316MC4Rc.200T= (p.Val67=)
18g.60372150A>CCA402720322MC4Rc.200T>G (p.Val67Gly)
gnomAD v4
18g.60372150A>GCA402720323MC4Rc.200T>C (p.Val67Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.60372150A>TCA402720324MC4Rc.200T>A (p.Val67Glu)
18g.60372151C>ACA402720326MC4Rc.199G>T (p.Val67Leu)
18g.60372151C>GCA402720327MC4Rc.199G>C (p.Val67Leu)
18g.60372151C>TCA402720325MC4Rc.199G>A (p.Val67Met)
18g.60372152A>CCA402720328MC4Rc.198T>G (p.Ile66Met)
18g.60372152A>GCA504305399MC4Rc.198T>C (p.Ile66=)
18g.60372152A>TCA504305398MC4Rc.198T>A (p.Ile66=)
18g.60372153A>CCA402720329MC4Rc.197T>G (p.Ile66Ser)
18g.60372153A>GCA402720330MC4Rc.197T>C (p.Ile66Thr)
gnomAD v4
18g.60372153A>TCA402720331MC4Rc.197T>A (p.Ile66Asn)
18g.60372154T>ACA402720332MC4Rc.196A>T (p.Ile66Phe)
18g.60372154T>CCA402720333MC4Rc.196A>G (p.Ile66Val)
gnomAD v4
18g.60372154T>GCA402720334MC4Rc.196A>C (p.Ile66Leu)
18g.60372155C>ACA504305406MC4Rc.195G>T (p.Val65=)
18g.60372155C>GCA504305407MC4Rc.195G>C (p.Val65=)
18g.60372155C>TCA504305409MC4Rc.195G>A (p.Val65=)
18g.60372156A=CA2307359317MC4Rc.194T= (p.Val65=)
18g.60372156A>CCA402720335MC4Rc.194T>G (p.Val65Gly)
18g.60372156A>GCA402720336MC4Rc.194T>C (p.Val65Ala)
18g.60372156A>TCA402720337MC4Rc.194T>A (p.Val65Glu)
dbSNP gnomAD v3 gnomAD v4
18g.60372157C>ACA402720338MC4Rc.193G>T (p.Val65Leu)
18g.60372157C=CA2307359318MC4Rc.193G= (p.Val65=)
18g.60372157C>GCA402720339MC4Rc.193G>C (p.Val65Leu)
18g.60372157C>TCA402720340MC4Rc.193G>A (p.Val65Met)
dbSNP gnomAD v4
18g.60372158T>ACA402720342MC4Rc.192A>T (p.Leu64Phe)
18g.60372158T>CCA504305412MC4Rc.192A>G (p.Leu64=)
18g.60372158T>GCA402720341MC4Rc.192A>C (p.Leu64Phe)
gnomAD v4
18g.60372159A=CA2307359319MC4Rc.191T= (p.Leu64=)
18g.60372159A>CCA402720343MC4Rc.191T>G (p.Leu64Ter)
18g.60372159A>GCA402720344MC4Rc.191T>C (p.Leu64Ser)
dbSNP gnomAD v2 gnomAD v4
18g.60372159A>TCA402720345MC4Rc.191T>A (p.Leu64Ter)
18g.60372160A=CA2307359320MC4Rc.190T= (p.Leu64=)
18g.60372160A>CCA402720346MC4Rc.190T>G (p.Leu64Val)
18g.60372160A>GCA504305416MC4Rc.190T>C (p.Leu64=)
18g.60372160A>TCA8980965MC4Rc.190T>A (p.Leu64Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.60372161G>ACA504305419MC4Rc.189C>T (p.Ile63=)
18g.60372161G>CCA402720347MC4Rc.189C>G (p.Ile63Met)
18g.60372161G>TCA504305421MC4Rc.189C>A (p.Ile63=)
18g.60372162A>CCA402720350MC4Rc.188T>G (p.Ile63Ser)
18g.60372162A>GCA402720348MC4Rc.188T>C (p.Ile63Thr)
gnomAD v4
18g.60372162A>TCA402720349MC4Rc.188T>A (p.Ile63Asn)
18g.60372163T>ACA8980966MC4Rc.187A>T (p.Ile63Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.60372163T>CCA402720351MC4Rc.187A>G (p.Ile63Val)
18g.60372163T>GCA402720352MC4Rc.187A>C (p.Ile63Leu)
gnomAD v4
18g.60372163T=CA2307359321MC4Rc.187A= (p.Ile63=)
18g.60372164A>CCA402720353MC4Rc.186T>G (p.Asn62Lys)
18g.60372164A>GCA504305424MC4Rc.186T>C (p.Asn62=)
18g.60372164A>TCA402720354MC4Rc.186T>A (p.Asn62Lys)
18g.60372165T>ACA402720355MC4Rc.185A>T (p.Asn62Ile)
18g.60372165T>CCA210724MC4Rc.185A>G (p.Asn62Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.60372165T>GCA402720356MC4Rc.185A>C (p.Asn62Thr)
18g.60372165T=CA2307359322MC4Rc.185A= (p.Asn62=)
18g.60372166T>ACA402720357MC4Rc.184A>T (p.Asn62Tyr)
18g.60372166T>CCA402720358MC4Rc.184A>G (p.Asn62Asp)
18g.60372166T>GCA402720359MC4Rc.184A>C (p.Asn62His)
18g.60372167C>ACA402720360MC4Rc.183G>T (p.Glu61Asp)
18g.60372167C=CA2307359323MC4Rc.183G= (p.Glu61=)
18g.60372167C>GCA402720361MC4Rc.183G>C (p.Glu61Asp)
18g.60372167C>TCA504305430MC4Rc.183G>A (p.Glu61=)
dbSNP gnomAD v2 gnomAD v4
18g.60372168T>ACA402720362MC4Rc.182A>T (p.Glu61Val)
18g.60372168T>CCA402720363MC4Rc.182A>G (p.Glu61Gly)
18g.60372168T>GCA402720364MC4Rc.182A>C (p.Glu61Ala)
18g.60372169C>ACA402720365MC4Rc.181G>T (p.Glu61Ter)
18g.60372169C=CA2307359324MC4Rc.181G= (p.Glu61=)
18g.60372169C>GCA402720366MC4Rc.181G>C (p.Glu61Gln)
18g.60372169C>TCA8980967MC4Rc.181G>A (p.Glu61Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.60372170C>ACA402720367MC4Rc.180G>T (p.Leu60Phe)
dbSNP
18g.60372170C=CA2307359325MC4Rc.180G= (p.Leu60=)
18g.60372170C>GCA402720368MC4Rc.180G>C (p.Leu60Phe)
18g.60372170C>TCA504305431MC4Rc.180G>A (p.Leu60=)
dbSNP gnomAD v2 gnomAD v4
18g.60372171A>CCA402720371MC4Rc.179T>G (p.Leu60Trp)
18g.60372171A>GCA402720370MC4Rc.179T>C (p.Leu60Ser)
18g.60372171A>TCA402720369MC4Rc.179T>A (p.Leu60Ter)
18g.60372172A>CCA402720372MC4Rc.178T>G (p.Leu60Val)
18g.60372172A>GCA504305433MC4Rc.178T>C (p.Leu60=)
18g.60372172A>TCA402720373MC4Rc.178T>A (p.Leu60Met)
18g.60372173C>ACA402720374MC4Rc.177G>T (p.Leu59Phe)
dbSNP
18g.60372173C=CA2307359326MC4Rc.177G= (p.Leu59=)
18g.60372173C>GCA402720375MC4Rc.177G>C (p.Leu59Phe)
18g.60372173C>TCA504305435MC4Rc.177G>A (p.Leu59=)
gnomAD v4
18g.60372174A=CA2307359327MC4Rc.176T= (p.Leu59=)
18g.60372174A>CCA402720376MC4Rc.176T>G (p.Leu59Trp)
18g.60372174A>GCA402720377MC4Rc.176T>C (p.Leu59Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.60372174A>TCA402720378MC4Rc.176T>A (p.Leu59Ter)
18g.60372175A>CCA402720379MC4Rc.175T>G (p.Leu59Val)
18g.60372175A>GCA504305440MC4Rc.175T>C (p.Leu59=)
18g.60372175A>TCA402720380MC4Rc.175T>A (p.Leu59Met)
18g.60372176G>ACA504305441MC4Rc.174C>T (p.Ser58=)
18g.60372176G>CCA402720381MC4Rc.174C>G (p.Ser58Arg)
18g.60372176G>TCA402720382MC4Rc.174C>A (p.Ser58Arg)
18g.60372177C>ACA402720383MC4Rc.173G>T (p.Ser58Ile)
18g.60372177C>GCA402720384MC4Rc.173G>C (p.Ser58Thr)
18g.60372177C>TCA402720385MC4Rc.173G>A (p.Ser58Asn)
18g.60372178T>ACA210714MC4Rc.172A>T (p.Ser58Cys)
ClinVar dbSNP gnomAD v4
18g.60372178T>CCA402720387MC4Rc.172A>G (p.Ser58Gly)
COSMIC
18g.60372178T>GCA402720386MC4Rc.172A>C (p.Ser58Arg)
18g.60372178T=CA2307359328MC4Rc.172A= (p.Ser58=)
18g.60372178_60372179delinsTGCA2307359329MC4Rc.171_172delinsCA (p.Ile57=)
18g.60372179delCA8980968MC4Rc.171del (p.Ser58AlafsTer7)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.60372179G>ACA504305445MC4Rc.171C>T (p.Ile57=)
18g.60372179G>CCA402720388MC4Rc.171C>G (p.Ile57Met)
18g.60372179G>TCA504305444MC4Rc.171C>A (p.Ile57=)
18g.60372180A>CCA402720389MC4Rc.170T>G (p.Ile57Ser)
18g.60372180A>GCA402720390MC4Rc.170T>C (p.Ile57Thr)
18g.60372180A>TCA402720391MC4Rc.170T>A (p.Ile57Asn)
18g.60372181T>ACA402720392MC4Rc.169A>T (p.Ile57Phe)
18g.60372181T>CCA402720393MC4Rc.169A>G (p.Ile57Val)
18g.60372181T>GCA8980969MC4Rc.169A>C (p.Ile57Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.60372181T=CA2307359330MC4Rc.169A= (p.Ile57=)
18g.60372182G>ACA8980970MC4Rc.168C>T (p.Val56=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.60372182G>CCA504305500MC4Rc.168C>G (p.Val56=)
18g.60372182G=CA2307359331MC4Rc.168C= (p.Val56=)
18g.60372182G>TCA504305501MC4Rc.168C>A (p.Val56=)
18g.60372182dupCA2642029306MC4Rc.168dup (p.Ile57HisfsTer?)
gnomAD v4
18g.60372183A=CA2307359332MC4Rc.167T= (p.Val56=)
18g.60372183A>CCA402720394MC4Rc.167T>G (p.Val56Gly)
18g.60372183A>GCA301530054MC4Rc.167T>C (p.Val56Ala)
dbSNP
18g.60372183A>TCA402720395MC4Rc.167T>A (p.Val56Asp)
18g.60372184C>ACA402720396MC4Rc.166G>T (p.Val56Phe)
18g.60372184C>GCA402720397MC4Rc.166G>C (p.Val56Leu)
18g.60372184C>TCA402720398MC4Rc.166G>A (p.Val56Ile)
18g.60372185A>CCA504305502MC4Rc.165T>G (p.Gly55=)
18g.60372185A>GCA504305503MC4Rc.165T>C (p.Gly55=)
gnomAD v4
18g.60372185A>TCA504305504MC4Rc.165T>A (p.Gly55=)
18g.60372186C>ACA402720399MC4Rc.164G>T (p.Gly55Val)
dbSNP gnomAD v2 gnomAD v4
18g.60372186C=CA2307359333MC4Rc.164G= (p.Gly55=)
18g.60372186C>GCA402720401MC4Rc.164G>C (p.Gly55Ala)
18g.60372186C>TCA402720400MC4Rc.164G>A (p.Gly55Asp)
dbSNP
18g.60372187C>ACA8980971MC4Rc.163G>T (p.Gly55Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.60372187C=CA2307359334MC4Rc.163G= (p.Gly55=)
18g.60372187C>GCA402720402MC4Rc.163G>C (p.Gly55Arg)
18g.60372187C>TCA402720403MC4Rc.163G>A (p.Gly55Ser)
dbSNP
18g.60372188C>ACA504305505MC4Rc.162G>T (p.Leu54=)
18g.60372188C>GCA504305507MC4Rc.162G>C (p.Leu54=)
gnomAD v4
18g.60372188C>TCA504305509MC4Rc.162G>A (p.Leu54=)
18g.60372189A=CA2307359335MC4Rc.161T= (p.Leu54=)
18g.60372189A>CCA402720404MC4Rc.161T>G (p.Leu54Arg)
18g.60372189A>GCA8980972MC4Rc.161T>C (p.Leu54Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.60372189A>TCA402720405MC4Rc.161T>A (p.Leu54Gln)
18g.60372190G>ACA504305511MC4Rc.160C>T (p.Leu54=)
18g.60372190G>CCA402720406MC4Rc.160C>G (p.Leu54Val)
18g.60372190G>TCA402720407MC4Rc.160C>A (p.Leu54Met)
18g.60372191A>CCA504305512MC4Rc.159T>G (p.Thr53=)
18g.60372191A>GCA504305513MC4Rc.159T>C (p.Thr53=)
18g.60372191A>TCA504305515MC4Rc.159T>A (p.Thr53=)
18g.60372192G>ACA8980973MC4Rc.158C>T (p.Thr53Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.60372192G>CCA402720408MC4Rc.158C>G (p.Thr53Ser)
18g.60372192G=CA2307359336MC4Rc.158C= (p.Thr53=)
18g.60372192G>TCA402720409MC4Rc.158C>A (p.Thr53Asn)
18g.60372193T>ACA402720412MC4Rc.157A>T (p.Thr53Ser)
18g.60372193T>CCA402720410MC4Rc.157A>G (p.Thr53Ala)
18g.60372193T>GCA402720411MC4Rc.157A>C (p.Thr53Pro)
18g.60372194C>ACA504305518MC4Rc.156G>T (p.Val52=)
18g.60372194C>GCA504305519MC4Rc.156G>C (p.Val52=)
18g.60372194C>TCA504305520MC4Rc.156G>A (p.Val52=)
gnomAD v4
18g.60372195A=CA2307359337MC4Rc.155T= (p.Val52=)
18g.60372195A>CCA402720413MC4Rc.155T>G (p.Val52Gly)
18g.60372195A>GCA402720415MC4Rc.155T>C (p.Val52Ala)
dbSNP
18g.60372195A>TCA402720414MC4Rc.155T>A (p.Val52Glu)
dbSNP gnomAD v2 gnomAD v4
18g.60372196C>ACA402720416MC4Rc.154G>T (p.Val52Leu)
18g.60372196C>GCA402720417MC4Rc.154G>C (p.Val52Leu)
gnomAD v4
18g.60372196C>TCA402720418MC4Rc.154G>A (p.Val52Met)
gnomAD v4
18g.60372197A>CCA402720419MC4Rc.153T>G (p.Phe51Leu)
18g.60372197A>GCA504305524MC4Rc.153T>C (p.Phe51=)
18g.60372197A>TCA402720420MC4Rc.153T>A (p.Phe51Leu)
18g.60372198A>CCA402720421MC4Rc.152T>G (p.Phe51Cys)
gnomAD v4
18g.60372198A>GCA402720422MC4Rc.152T>C (p.Phe51Ser)
18g.60372198A>TCA402720423MC4Rc.152T>A (p.Phe51Tyr)
18g.60372199A=CA2307359338MC4Rc.151T= (p.Phe51=)
18g.60372199A>CCA402720424MC4Rc.151T>G (p.Phe51Val)
18g.60372199A>GCA301530055MC4Rc.151T>C (p.Phe51Leu)
dbSNP gnomAD v2 gnomAD v4
18g.60372199A>TCA402720425MC4Rc.151T>A (p.Phe51Ile)
18g.60372200C>ACA504305525MC4Rc.150G>T (p.Val50=)
18g.60372200C>GCA504305526MC4Rc.150G>C (p.Val50=)
18g.60372200C>TCA504305527MC4Rc.150G>A (p.Val50=)
18g.60372201A>CCA402720428MC4Rc.149T>G (p.Val50Gly)
18g.60372201A>GCA402720426MC4Rc.149T>C (p.Val50Ala)
18g.60372201A>TCA402720427MC4Rc.149T>A (p.Val50Glu)
18g.60372202C>ACA402720429MC4Rc.148G>T (p.Val50Leu)
dbSNP gnomAD v2 gnomAD v4
18g.60372202C=CA2307359339MC4Rc.148G= (p.Val50=)
18g.60372202C>GCA402720430MC4Rc.148G>C (p.Val50Leu)
18g.60372202C>TCA210713MC4Rc.148G>A (p.Val50Met)
ClinVar dbSNP
18g.60372202_60372203insACCCAACA2812704166MC4Rc.147_148insTTGGGT (p.Glu49_Val50insLeuGly)
18g.60372202_60372203insAACCAAACACACCCAACA2812704165MC4Rc.147_148insTTGGGTGTGTTTGGTT (p.Val50LeufsTer?)
18g.60372203C>ACA402720431MC4Rc.147G>T (p.Glu49Asp)
18g.60372203C>GCA402720432MC4Rc.147G>C (p.Glu49Asp)
18g.60372203C>TCA504305531MC4Rc.147G>A (p.Glu49=)
18g.60372203_60372204insAAACACACCCAACCA2812704167MC4Rc.147_148insTTGGGTGTGTTTG (p.Val50LeufsTer?)
18g.60372204T>ACA402720433MC4Rc.146A>T (p.Glu49Val)
18g.60372204T>CCA402720434MC4Rc.146A>G (p.Glu49Gly)
18g.60372204T>GCA402720435MC4Rc.146A>C (p.Glu49Ala)
dbSNP gnomAD v2 gnomAD v4
18g.60372204T=CA2307359340MC4Rc.146A= (p.Glu49=)
18g.60372205C>ACA402720436MC4Rc.145G>T (p.Glu49Ter)
18g.60372205C>GCA402720437MC4Rc.145G>C (p.Glu49Gln)
18g.60372205C>TCA402720438MC4Rc.145G>A (p.Glu49Lys)
18g.60372206A>CCA504305535MC4Rc.144T>G (p.Pro48=)
18g.60372206A>GCA504305536MC4Rc.144T>C (p.Pro48=)
18g.60372206A>TCA504305537MC4Rc.144T>A (p.Pro48=)
18g.60372207G>ACA8980974MC4Rc.143C>T (p.Pro48Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.60372207G>CCA402720440MC4Rc.143C>G (p.Pro48Arg)
18g.60372207G=CA2307359341MC4Rc.143C= (p.Pro48=)
18g.60372207G>TCA402720439MC4Rc.143C>A (p.Pro48His)
18g.60372208G>ACA402720443MC4Rc.142C>T (p.Pro48Ser)
dbSNP gnomAD v2 gnomAD v4
18g.60372208G>CCA402720441MC4Rc.142C>G (p.Pro48Ala)
18g.60372208G=CA2307359342MC4Rc.142C= (p.Pro48=)
18g.60372208G>TCA402720442MC4Rc.142C>A (p.Pro48Thr)
18g.60372209A=CA2307359343MC4Rc.141T= (p.Ser47=)
18g.60372209A>CCA504305544MC4Rc.141T>G (p.Ser47=)
18g.60372209A>GCA504305542MC4Rc.141T>C (p.Ser47=)
dbSNP
18g.60372209A>TCA504305541MC4Rc.141T>A (p.Ser47=)
18g.60372210G>ACA402720444MC4Rc.140C>T (p.Ser47Phe)
18g.60372210G>CCA402720445MC4Rc.140C>G (p.Ser47Cys)
18g.60372210G>TCA402720446MC4Rc.140C>A (p.Ser47Tyr)
18g.60372211A>CCA402720447MC4Rc.139T>G (p.Ser47Ala)
18g.60372211A>GCA402720448MC4Rc.139T>C (p.Ser47Pro)
18g.60372211A>TCA402720449MC4Rc.139T>A (p.Ser47Thr)
18g.60372212G>ACA504305545MC4Rc.138C>T (p.Val46=)
18g.60372212G>CCA504305546MC4Rc.138C>G (p.Val46=)
18g.60372212G>TCA504305547MC4Rc.138C>A (p.Val46=)
18g.60372213A=CA2307359344MC4Rc.137T= (p.Val46=)
18g.60372213A>CCA402720450MC4Rc.137T>G (p.Val46Gly)
18g.60372213A>GCA8980975MC4Rc.137T>C (p.Val46Ala)
dbSNP ExAC gnomAD v2
18g.60372213A>TCA402720451MC4Rc.137T>A (p.Val46Asp)
18g.60372214C>ACA402720452MC4Rc.136G>T (p.Val46Phe)
18g.60372214C=CA2307359345MC4Rc.136G= (p.Val46=)
18g.60372214C>GCA402720453MC4Rc.136G>C (p.Val46Leu)
18g.60372214C>TCA402720454MC4Rc.136G>A (p.Val46Ile)
dbSNP gnomAD v2 gnomAD v4
18g.60372215A>CCA402720455MC4Rc.135T>G (p.Phe45Leu)
18g.60372215A>GCA504305551MC4Rc.135T>C (p.Phe45=)
gnomAD v4
18g.60372215A>TCA402720456MC4Rc.135T>A (p.Phe45Leu)
18g.60372219dupCA2812704170MC4Rc.135dup (p.Val46CysfsTer4)
18g.60372216A>CCA402720457MC4Rc.134T>G (p.Phe45Cys)
18g.60372216A>GCA402720458MC4Rc.134T>C (p.Phe45Ser)
18g.60372216A>TCA402720459MC4Rc.134T>A (p.Phe45Tyr)
18g.60372217A>CCA402720460MC4Rc.133T>G (p.Phe45Val)
18g.60372217A>GCA402720461MC4Rc.133T>C (p.Phe45Leu)
18g.60372217A>TCA402720462MC4Rc.133T>A (p.Phe45Ile)
18g.60372218A=CA2307359346MC4Rc.132T= (p.Leu44=)
18g.60372218A>CCA504305553MC4Rc.132T>G (p.Leu44=)
18g.60372218A>GCA504305554MC4Rc.132T>C (p.Leu44=)
dbSNP
18g.60372218A>TCA504305555MC4Rc.132T>A (p.Leu44=)
18g.60372219A>CCA402720463MC4Rc.131T>G (p.Leu44Arg)
18g.60372219A>GCA402720464MC4Rc.131T>C (p.Leu44Pro)
18g.60372219A>TCA402720465MC4Rc.131T>A (p.Leu44His)
18g.60372220G>ACA402720466MC4Rc.130C>T (p.Leu44Phe)
dbSNP
18g.60372220G>CCA402720467MC4Rc.130C>G (p.Leu44Val)
gnomAD v4
18g.60372220G=CA2307359347MC4Rc.130C= (p.Leu44=)
18g.60372220G>TCA402720468MC4Rc.130C>A (p.Leu44Ile)
18g.60372221T>ACA402720470MC4Rc.129A>T (p.Gln43His)
18g.60372221T>CCA8980976MC4Rc.129A>G (p.Gln43=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.60372221T>GCA402720469MC4Rc.129A>C (p.Gln43His)
18g.60372221T=CA2307359348MC4Rc.129A= (p.Gln43=)
18g.60372222T>ACA402720471MC4Rc.128A>T (p.Gln43Leu)
18g.60372222T>CCA402720473MC4Rc.128A>G (p.Gln43Arg)
18g.60372222T>GCA402720472MC4Rc.128A>C (p.Gln43Pro)
18g.60372223G>ACA402720474MC4Rc.127C>T (p.Gln43Ter)
dbSNP gnomAD v4
18g.60372223G>CCA402720475MC4Rc.127C>G (p.Gln43Glu)
18g.60372223G=CA2307359349MC4Rc.127C= (p.Gln43=)
18g.60372223G>TCA402720476MC4Rc.127C>A (p.Gln43Lys)
ClinVar gnomAD v4
18g.60372224C>ACA402720477MC4Rc.126G>T (p.Glu42Asp)
18g.60372224C=CA2307359350MC4Rc.126G= (p.Glu42=)
18g.60372224C>GCA402720478MC4Rc.126G>C (p.Glu42Asp)
dbSNP gnomAD v4
18g.60372224C>TCA504305557MC4Rc.126G>A (p.Glu42=)
18g.60372224_60372225delinsCTCA2307359351MC4Rc.125_126delinsAG (p.Glu42=)
18g.60372225delCA2307359352MC4Rc.125del (p.Glu42GlyfsTer11)
dbSNP gnomAD v4
18g.60372225T>ACA402720481MC4Rc.125A>T (p.Glu42Val)
18g.60372225T>CCA402720480MC4Rc.125A>G (p.Glu42Gly)
18g.60372225T>GCA402720479MC4Rc.125A>C (p.Glu42Ala)
18g.60372226C>ACA402720482MC4Rc.124G>T (p.Glu42Ter)
18g.60372226C=CA2307359353MC4Rc.124G= (p.Glu42=)
18g.60372226C>GCA402720483MC4Rc.124G>C (p.Glu42Gln)
dbSNP
18g.60372226C>TCA8980977MC4Rc.124G>A (p.Glu42Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.60372227G>ACA8980978MC4Rc.123C>T (p.Tyr41=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.60372227G>CCA402720484MC4Rc.123C>G (p.Tyr41Ter)
18g.60372227G=CA2307359354MC4Rc.123C= (p.Tyr41=)
18g.60372227G>TCA402720485MC4Rc.123C>A (p.Tyr41Ter)
18g.60372228T>ACA402720486MC4Rc.122A>T (p.Tyr41Phe)
18g.60372228T>CCA402720488MC4Rc.122A>G (p.Tyr41Cys)
18g.60372228T>GCA402720487MC4Rc.122A>C (p.Tyr41Ser)
18g.60372229A>CCA402720489MC4Rc.121T>G (p.Tyr41Asp)
18g.60372229A>GCA402720490MC4Rc.121T>C (p.Tyr41His)
gnomAD v4
18g.60372229A>TCA402720491MC4Rc.121T>A (p.Tyr41Asn)
18g.60372230G>ACA504305562MC4Rc.120C>T (p.Cys40=)
18g.60372230G>CCA402720492MC4Rc.120C>G (p.Cys40Trp)
gnomAD v4
18g.60372230G=CA2307359355MC4Rc.120C= (p.Cys40=)
18g.60372230G>TCA402720493MC4Rc.120C>A (p.Cys40Ter)
dbSNP
18g.60372231C>ACA402720494MC4Rc.119G>T (p.Cys40Phe)
18g.60372231C>GCA402720495MC4Rc.119G>C (p.Cys40Ser)
18g.60372231C>TCA402720496MC4Rc.119G>A (p.Cys40Tyr)
dbSNP gnomAD v3 gnomAD v4
18g.60372232A=CA2307359356MC4Rc.118T= (p.Cys40=)
18g.60372232A>CCA402720497MC4Rc.118T>G (p.Cys40Gly)
18g.60372232A>GCA402720498MC4Rc.118T>C (p.Cys40Arg)
dbSNP
18g.60372232A>TCA402720499MC4Rc.118T>A (p.Cys40Ser)
18g.60372233C>ACA8980979MC4Rc.117G>T (p.Gly39=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.60372233C=CA2307359357MC4Rc.117G= (p.Gly39=)
18g.60372233C>GCA504305565MC4Rc.117G>C (p.Gly39=)
gnomAD v4
18g.60372233C>TCA8980980MC4Rc.117G>A (p.Gly39=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
18g.60372234C>ACA402720500MC4Rc.116G>T (p.Gly39Val)
18g.60372234C=CA2307359358MC4Rc.116G= (p.Gly39=)
18g.60372234C>GCA402720501MC4Rc.116G>C (p.Gly39Ala)
18g.60372234C>TCA402720502MC4Rc.116G>A (p.Gly39Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.60372235C>ACA402720503MC4Rc.115G>T (p.Gly39Trp)
18g.60372235C=CA2307359359MC4Rc.115G= (p.Gly39=)
18g.60372235C>GCA402720504MC4Rc.115G>C (p.Gly39Arg)
18g.60372235C>TCA402720505MC4Rc.115G>A (p.Gly39Arg)
dbSNP gnomAD v4
18g.60372236T>ACA504305567MC4Rc.114A>T (p.Gly38=)
18g.60372236T>CCA504305570MC4Rc.114A>G (p.Gly38=)
18g.60372236T>GCA504305568MC4Rc.114A>C (p.Gly38=)
18g.60372237C>ACA402720508MC4Rc.113G>T (p.Gly38Val)
18g.60372237C>GCA402720506MC4Rc.113G>C (p.Gly38Ala)
18g.60372237C>TCA402720507MC4Rc.113G>A (p.Gly38Glu)
18g.60372238C>ACA402720509MC4Rc.112G>T (p.Gly38Ter)
18g.60372238C=CA2307359360MC4Rc.112G= (p.Gly38=)
18g.60372238C>GCA402720510MC4Rc.112G>C (p.Gly38Arg)
18g.60372238C>TCA8980981MC4Rc.112G>A (p.Gly38Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.60372239A>CCA402720511MC4Rc.111T>G (p.Asp37Glu)
18g.60372239A>GCA504305572MC4Rc.111T>C (p.Asp37=)
18g.60372239A>TCA402720512MC4Rc.111T>A (p.Asp37Glu)
gnomAD v4
18g.60372240T>ACA213428MC4Rc.110A>T (p.Asp37Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.[60372240T>A;60372245G>T]CA1139767788MC4Rc.[105C>A;110A>T] (p.Tyr35Ter)
18g.60372240T>CCA402720514MC4Rc.110A>G (p.Asp37Gly)
dbSNP gnomAD v3 gnomAD v4
18g.60372240T>GCA402720513MC4Rc.110A>C (p.Asp37Ala)
18g.60372240T=CA2307359361MC4Rc.110A= (p.Asp37=)

Number of alleles fetched