Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154860438T>ACA414902867F8c.6894A>T (p.Lys2298Asn)
c.627A>T (p.Lys209Asn)
c.489A>T (p.Lys163Asn)
c.6789A>T (p.Lys2263Asn)
Xg.154860438T>CCA519356035F8c.6894A>G (p.Lys2298=)
c.627A>G (p.Lys209=)
c.489A>G (p.Lys163=)
c.6789A>G (p.Lys2263=)
Xg.154860438T>GCA414902870F8c.6894A>C (p.Lys2298Asn)
c.627A>C (p.Lys209Asn)
c.489A>C (p.Lys163Asn)
c.6789A>C (p.Lys2263Asn)
Xg.154860440delCA2695237120F8c.6894del (p.Val2299Ter)
c.627del (p.Val210Ter)
c.489del (p.Val164Ter)
c.6789del (p.Val2264Ter)
Xg.154860439T>ACA414902887F8c.6893A>T (p.Lys2298Ile)
c.626A>T (p.Lys209Ile)
c.488A>T (p.Lys163Ile)
c.6788A>T (p.Lys2263Ile)
Xg.154860439T>CCA414902893F8c.6893A>G (p.Lys2298Arg)
c.626A>G (p.Lys209Arg)
c.488A>G (p.Lys163Arg)
c.6788A>G (p.Lys2263Arg)
Xg.154860439T>GCA414902897F8c.6893A>C (p.Lys2298Thr)
c.626A>C (p.Lys209Thr)
c.488A>C (p.Lys163Thr)
c.6788A>C (p.Lys2263Thr)
Xg.154860440T>ACA414902904F8c.6892A>T (p.Lys2298Ter)
c.625A>T (p.Lys209Ter)
c.487A>T (p.Lys163Ter)
c.6787A>T (p.Lys2263Ter)
dbSNP gnomAD v3 gnomAD v4
Xg.154860440T>CCA414902908F8c.6892A>G (p.Lys2298Glu)
c.625A>G (p.Lys209Glu)
c.487A>G (p.Lys163Glu)
c.6787A>G (p.Lys2263Glu)
Xg.154860440T>GCA414902915F8c.6892A>C (p.Lys2298Gln)
c.625A>C (p.Lys209Gln)
c.487A>C (p.Lys163Gln)
c.6787A>C (p.Lys2263Gln)
Xg.154860440T=CA2466814976F8c.6892A= (p.Lys2298=)
c.625A= (p.Lys209=)
c.487A= (p.Lys163=)
c.6787A= (p.Lys2263=)
Xg.154860441G>ACA519356037F8c.6891C>T (p.Gly2297=)
c.624C>T (p.Gly208=)
c.486C>T (p.Gly162=)
c.6786C>T (p.Gly2262=)
Xg.154860441G>CCA519356039F8c.6891C>G (p.Gly2297=)
c.624C>G (p.Gly208=)
c.486C>G (p.Gly162=)
c.6786C>G (p.Gly2262=)
Xg.154860441G>TCA519356038F8c.6891C>A (p.Gly2297=)
c.624C>A (p.Gly208=)
c.486C>A (p.Gly162=)
c.6786C>A (p.Gly2262=)
gnomAD v4
Xg.154860442C>ACA414902921F8c.6890G>T (p.Gly2297Val)
c.623G>T (p.Gly208Val)
c.485G>T (p.Gly162Val)
c.6785G>T (p.Gly2262Val)
Xg.154860442C>GCA414902925F8c.6890G>C (p.Gly2297Ala)
c.623G>C (p.Gly208Ala)
c.485G>C (p.Gly162Ala)
c.6785G>C (p.Gly2262Ala)
Xg.154860442C>TCA414902922F8c.6890G>A (p.Gly2297Asp)
c.623G>A (p.Gly208Asp)
c.485G>A (p.Gly162Asp)
c.6785G>A (p.Gly2262Asp)
dbSNP gnomAD v3 gnomAD v4
Xg.154860443C>ACA414902930F8c.6889G>T (p.Gly2297Cys)
c.622G>T (p.Gly208Cys)
c.484G>T (p.Gly162Cys)
c.6784G>T (p.Gly2262Cys)
COSMIC COSMIC
Xg.154860443C=CA2466814977F8c.6889G= (p.Gly2297=)
c.622G= (p.Gly208=)
c.484G= (p.Gly162=)
c.6784G= (p.Gly2262=)
Xg.154860443C>GCA414902941F8c.6889G>C (p.Gly2297Arg)
c.622G>C (p.Gly208Arg)
c.484G>C (p.Gly162Arg)
c.6784G>C (p.Gly2262Arg)
Xg.154860443C>TCA414902942F8c.6889G>A (p.Gly2297Ser)
c.622G>A (p.Gly208Ser)
c.484G>A (p.Gly162Ser)
c.6784G>A (p.Gly2262Ser)
dbSNP gnomAD v2 gnomAD v4
Xg.154860444A=CA2466814978F8c.6888T= (p.Asn2296=)
c.621T= (p.Asn207=)
c.483T= (p.Asn161=)
c.6783T= (p.Asn2261=)
Xg.154860444A>CCA414902944F8c.6888T>G (p.Asn2296Lys)
c.621T>G (p.Asn207Lys)
c.483T>G (p.Asn161Lys)
c.6783T>G (p.Asn2261Lys)
dbSNP gnomAD v4
Xg.154860444A>GCA10567752F8c.6888T>C (p.Asn2296=)
c.621T>C (p.Asn207=)
c.483T>C (p.Asn161=)
c.6783T>C (p.Asn2261=)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154860444A>TCA414902950F8c.6888T>A (p.Asn2296Lys)
c.621T>A (p.Asn207Lys)
c.483T>A (p.Asn161Lys)
c.6783T>A (p.Asn2261Lys)
Xg.154860445T>ACA414902956F8c.6887A>T (p.Asn2296Ile)
c.620A>T (p.Asn207Ile)
c.482A>T (p.Asn161Ile)
c.6782A>T (p.Asn2261Ile)
Xg.154860445T>CCA414902959F8c.6887A>G (p.Asn2296Ser)
c.620A>G (p.Asn207Ser)
c.482A>G (p.Asn161Ser)
c.6782A>G (p.Asn2261Ser)
Xg.154860445T>GCA414902960F8c.6887A>C (p.Asn2296Thr)
c.620A>C (p.Asn207Thr)
c.482A>C (p.Asn161Thr)
c.6782A>C (p.Asn2261Thr)
Xg.154860446delCA2695237122F8c.6887del (p.Asn2296MetfsTer4)
c.620del (p.Asn207MetfsTer4)
c.482del (p.Asn161MetfsTer4)
c.6782del (p.Asn2261MetfsTer4)
Xg.154860446T>ACA414902983F8c.6886A>T (p.Asn2296Tyr)
c.619A>T (p.Asn207Tyr)
c.481A>T (p.Asn161Tyr)
c.6781A>T (p.Asn2261Tyr)
Xg.154860446T>CCA414902971F8c.6886A>G (p.Asn2296Asp)
c.619A>G (p.Asn207Asp)
c.481A>G (p.Asn161Asp)
c.6781A>G (p.Asn2261Asp)
Xg.154860446T>GCA414902963F8c.6886A>C (p.Asn2296His)
c.619A>C (p.Asn207His)
c.481A>C (p.Asn161His)
c.6781A>C (p.Asn2261His)
Xg.154860447C>ACA414902985F8c.6885G>T (p.Gln2295His)
c.618G>T (p.Gln206His)
c.480G>T (p.Gln160His)
c.6780G>T (p.Gln2260His)
Xg.154860447C>GCA414902986F8c.6885G>C (p.Gln2295His)
c.618G>C (p.Gln206His)
c.480G>C (p.Gln160His)
c.6780G>C (p.Gln2260His)
Xg.154860447C>TCA519356044F8c.6885G>A (p.Gln2295=)
c.618G>A (p.Gln206=)
c.480G>A (p.Gln160=)
c.6780G>A (p.Gln2260=)
Xg.154860448T>ACA414902991F8c.6884A>T (p.Gln2295Leu)
c.617A>T (p.Gln206Leu)
c.479A>T (p.Gln160Leu)
c.6779A>T (p.Gln2260Leu)
Xg.154860448T>CCA414902997F8c.6884A>G (p.Gln2295Arg)
c.617A>G (p.Gln206Arg)
c.479A>G (p.Gln160Arg)
c.6779A>G (p.Gln2260Arg)
gnomAD v4
Xg.154860448T>GCA414903008F8c.6884A>C (p.Gln2295Pro)
c.617A>C (p.Gln206Pro)
c.479A>C (p.Gln160Pro)
c.6779A>C (p.Gln2260Pro)
Xg.154860449G>ACA414903015F8c.6883C>T (p.Gln2295Ter)
c.616C>T (p.Gln206Ter)
c.478C>T (p.Gln160Ter)
c.6778C>T (p.Gln2260Ter)
COSMIC COSMIC
Xg.154860449G>CCA414903021F8c.6883C>G (p.Gln2295Glu)
c.616C>G (p.Gln206Glu)
c.478C>G (p.Gln160Glu)
c.6778C>G (p.Gln2260Glu)
Xg.154860449G>TCA414903028F8c.6883C>A (p.Gln2295Lys)
c.616C>A (p.Gln206Lys)
c.478C>A (p.Gln160Lys)
c.6778C>A (p.Gln2260Lys)
Xg.154860449_154860453delinsGAAAACA2466814979F8c.6879_6883delinsTTTTC (p.Phe2293=)
c.612_616delinsTTTTC (p.Phe204=)
c.474_478delinsTTTTC (p.Phe158=)
c.6774_6778delinsTTTTC (p.Phe2258=)
Xg.154860450A>CCA414903037F8c.6882T>G (p.Phe2294Leu)
c.615T>G (p.Phe205Leu)
c.477T>G (p.Phe159Leu)
c.6777T>G (p.Phe2259Leu)
Xg.154860450A>GCA519356045F8c.6882T>C (p.Phe2294=)
c.615T>C (p.Phe205=)
c.477T>C (p.Phe159=)
c.6777T>C (p.Phe2259=)
Xg.154860450A>TCA414903038F8c.6882T>A (p.Phe2294Leu)
c.615T>A (p.Phe205Leu)
c.477T>A (p.Phe159Leu)
c.6777T>A (p.Phe2259Leu)
Xg.154860455dupCA2695237123F8c.6882dup (p.Gln2295SerfsTer?)
c.615dup (p.Gln206SerfsTer?)
c.477dup (p.Gln160SerfsTer?)
c.6777dup (p.Gln2260SerfsTer?)
Xg.154860455delCA2695237124F8c.6882del (p.Gln2295ArgfsTer5)
c.615del (p.Gln206ArgfsTer5)
c.477del (p.Gln160ArgfsTer5)
c.6777del (p.Gln2260ArgfsTer5)
Xg.154860454_154860455delCA2695237125F8c.6881_6882del (p.Phe2294SerfsTer?)
c.614_615del (p.Phe205SerfsTer?)
c.476_477del (p.Phe159SerfsTer?)
c.6776_6777del (p.Phe2259SerfsTer?)
Xg.154860452_154860455delCA2466814980F8c.6879_6882del (p.Phe2294ArgfsTer5)
c.612_615del (p.Phe205ArgfsTer5)
c.474_477del (p.Phe159ArgfsTer5)
c.6774_6777del (p.Phe2259ArgfsTer5)
dbSNP
Xg.154860451A>CCA414903040F8c.6881T>G (p.Phe2294Cys)
c.614T>G (p.Phe205Cys)
c.476T>G (p.Phe159Cys)
c.6776T>G (p.Phe2259Cys)

Number of alleles fetched