Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154860411_154860414dupCA10567739F8c.6900+34_6900+37dup (n.6900+34_6900+37dup)
c.633+34_633+37dup (n.633+34_633+37dup)
c.495+34_495+37dup (n.495+34_495+37dup)
c.6795+34_6795+37dup (n.6795+34_6795+37dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154860407_154860414dupCA10567741F8c.6900+30_6900+37dup (n.6900+30_6900+37dup)
c.633+30_633+37dup (n.633+30_633+37dup)
c.495+30_495+37dup (n.495+30_495+37dup)
c.6795+30_6795+37dup (n.6795+30_6795+37dup)
 dbSNP ExAC
Xg.154860411_154860414delCA10567738F8c.6900+34_6900+37del (n.6900+34_6900+37del)
c.633+34_633+37del (n.633+34_633+37del)
c.495+34_495+37del (n.495+34_495+37del)
c.6795+34_6795+37del (n.6795+34_6795+37del)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154860407_154860414delCA2695167714F8c.6900+30_6900+37del (n.6900+30_6900+37del)
c.633+30_633+37del (n.633+30_633+37del)
c.495+30_495+37del (n.495+30_495+37del)
c.6795+30_6795+37del (n.6795+30_6795+37del)
 gnomAD v4
Xg.154860411_154860415delinsTTTCCCA2466814962F8c.6900+17_6900+21delinsGGAAA (n.6900+17_6900+21delinsGGAAA)
c.633+17_633+21delinsGGAAA (n.633+17_633+21delinsGGAAA)
c.495+17_495+21delinsGGAAA (n.495+17_495+21delinsGGAAA)
c.6795+17_6795+21delinsGGAAA (n.6795+17_6795+21delinsGGAAA)
Xg.154860412_154860415delCA10567747F8c.6900+17_6900+20del (n.6900+17_6900+20del)
c.633+17_633+20del (n.633+17_633+20del)
c.495+17_495+20del (n.495+17_495+20del)
c.6795+17_6795+20del (n.6795+17_6795+20del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154860414C=CA2466814964F8c.6900+18G= (n.6900+18G=)
c.633+18G= (n.633+18G=)
c.495+18G= (n.495+18G=)
c.6795+18G= (n.6795+18G=)
Xg.154860414C>TCA10567748F8c.6900+18G>A (n.6900+18G>A)
c.633+18G>A (n.633+18G>A)
c.495+18G>A (n.495+18G>A)
c.6795+18G>A (n.6795+18G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154860416A=CA2466814965F8c.6900+16T= (n.6900+16T=)
c.633+16T= (n.633+16T=)
c.495+16T= (n.495+16T=)
c.6795+16T= (n.6795+16T=)
Xg.154860416A>GCA10567749F8c.6900+16T>C (n.6900+16T>C)
c.633+16T>C (n.633+16T>C)
c.495+16T>C (n.495+16T>C)
c.6795+16T>C (n.6795+16T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154860418G>ACA10567750F8c.6900+14C>T (n.6900+14C>T)
c.633+14C>T (n.633+14C>T)
c.495+14C>T (n.495+14C>T)
c.6795+14C>T (n.6795+14C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154860418G=CA2466814966F8c.6900+14C= (n.6900+14C=)
c.633+14C= (n.633+14C=)
c.495+14C= (n.495+14C=)
c.6795+14C= (n.6795+14C=)
Xg.154860419G>ACA645238388F8c.6900+13C>T (n.6900+13C>T)
c.633+13C>T (n.633+13C>T)
c.495+13C>T (n.495+13C>T)
c.6795+13C>T (n.6795+13C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.154860419G>CCA2695167717F8c.6900+13C>G (n.6900+13C>G)
c.633+13C>G (n.633+13C>G)
c.495+13C>G (n.495+13C>G)
c.6795+13C>G (n.6795+13C>G)
 gnomAD v4
Xg.154860419G=CA2466814967F8c.6900+13C= (n.6900+13C=)
c.633+13C= (n.633+13C=)
c.495+13C= (n.495+13C=)
c.6795+13C= (n.6795+13C=)
Xg.154860421G>TCA2695167718F8c.6900+11C>A (n.6900+11C>A)
c.633+11C>A (n.633+11C>A)
c.495+11C>A (n.495+11C>A)
c.6795+11C>A (n.6795+11C>A)
 gnomAD v4
Xg.154860421_154860422delinsGACA2466814968F8c.6900+10_6900+11delinsTC (n.6900+10_6900+11delinsTC)
c.633+10_633+11delinsTC (n.633+10_633+11delinsTC)
c.495+10_495+11delinsTC (n.495+10_495+11delinsTC)
c.6795+10_6795+11delinsTC (n.6795+10_6795+11delinsTC)
Xg.154860422delCA2466814969F8c.6900+10del (n.6900+10del)
c.633+10del (n.633+10del)
c.495+10del (n.495+10del)
c.6795+10del (n.6795+10del)
 dbSNP
Xg.154860422A=CA2466814970F8c.6900+10T= (n.6900+10T=)
c.633+10T= (n.633+10T=)
c.495+10T= (n.495+10T=)
c.6795+10T= (n.6795+10T=)
Xg.154860422A>TCA645238389F8c.6900+10T>A (n.6900+10T>A)
c.633+10T>A (n.633+10T>A)
c.495+10T>A (n.495+10T>A)
c.6795+10T>A (n.6795+10T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154860426G>ACA2466814972F8c.6900+6C>T (n.6900+6C>T)
c.633+6C>T (n.633+6C>T)
c.495+6C>T (n.495+6C>T)
c.6795+6C>T (n.6795+6C>T)
 dbSNP gnomAD v4
Xg.154860426G>CCA2466814973F8c.6900+6C>G (n.6900+6C>G)
c.633+6C>G (n.633+6C>G)
c.495+6C>G (n.495+6C>G)
c.6795+6C>G (n.6795+6C>G)
 dbSNP gnomAD v4
Xg.154860426G=CA2466814971F8c.6900+6C= (n.6900+6C=)
c.633+6C= (n.633+6C=)
c.495+6C= (n.495+6C=)
c.6795+6C= (n.6795+6C=)
Xg.154860430A>CCA414902780F8c.6900+2T>G (n.6900+2T>G)
c.633+2T>G (n.633+2T>G)
c.495+2T>G (n.495+2T>G)
c.6795+2T>G (n.6795+2T>G)
Xg.154860430A>GCA414902781F8c.6900+2T>C (n.6900+2T>C)
c.633+2T>C (n.633+2T>C)
c.495+2T>C (n.495+2T>C)
c.6795+2T>C (n.6795+2T>C)
Xg.154860430A>TCA414902784F8c.6900+2T>A (n.6900+2T>A)
c.633+2T>A (n.633+2T>A)
c.495+2T>A (n.495+2T>A)
c.6795+2T>A (n.6795+2T>A)
Xg.154860431C>ACA414902799F8c.6900+1G>T (n.6900+1G>T)
c.633+1G>T (n.633+1G>T)
c.495+1G>T (n.495+1G>T)
c.6795+1G>T (n.6795+1G>T)
Xg.154860431C=CA2466814974F8c.6900+1G= (n.6900+1G=)
c.633+1G= (n.633+1G=)
c.495+1G= (n.495+1G=)
c.6795+1G= (n.6795+1G=)
Xg.154860431C>GCA414902802F8c.6900+1G>C (n.6900+1G>C)
c.633+1G>C (n.633+1G>C)
c.495+1G>C (n.495+1G>C)
c.6795+1G>C (n.6795+1G>C)
 ClinVar
Xg.154860431C>TCA414902808F8c.6900+1G>A (n.6900+1G>A)
c.633+1G>A (n.633+1G>A)
c.495+1G>A (n.495+1G>A)
c.6795+1G>A (n.6795+1G>A)
 dbSNP gnomAD v4
Xg.154860432C>ACA414902814F8c.6900G>T (p.Lys2300Asn)
c.633G>T (p.Lys211Asn)
c.495G>T (p.Lys165Asn)
c.6795G>T (p.Lys2265Asn)
Xg.154860432C>GCA414902815F8c.6900G>C (p.Lys2300Asn)
c.633G>C (p.Lys211Asn)
c.495G>C (p.Lys165Asn)
c.6795G>C (p.Lys2265Asn)
Xg.154860432C>TCA519356028F8c.6900G>A (p.Lys2300=)
c.633G>A (p.Lys211=)
c.495G>A (p.Lys165=)
c.6795G>A (p.Lys2265=)
 gnomAD v4
Xg.154860433T>ACA414902816F8c.6899A>T (p.Lys2300Met)
c.632A>T (p.Lys211Met)
c.494A>T (p.Lys165Met)
c.6794A>T (p.Lys2265Met)
Xg.154860433T>CCA10567751F8c.6899A>G (p.Lys2300Arg)
c.632A>G (p.Lys211Arg)
c.494A>G (p.Lys165Arg)
c.6794A>G (p.Lys2265Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154860433T>GCA414902821F8c.6899A>C (p.Lys2300Thr)
c.632A>C (p.Lys211Thr)
c.494A>C (p.Lys165Thr)
c.6794A>C (p.Lys2265Thr)
Xg.154860433T=CA2466814975F8c.6899A= (p.Lys2300=)
c.632A= (p.Lys211=)
c.494A= (p.Lys165=)
c.6794A= (p.Lys2265=)
Xg.154860434_154860435dupCA2695237119F8c.6898_6899dup (p.Val2301ArgfsTer14)
c.631_632dup (p.Val212ArgfsTer14)
c.493_494dup (p.Val166ArgfsTer14)
c.6793_6794dup (p.Val2266ArgfsTer14)
Xg.154860434T>ACA414902838F8c.6898A>T (p.Lys2300Ter)
c.631A>T (p.Lys211Ter)
c.493A>T (p.Lys165Ter)
c.6793A>T (p.Lys2265Ter)
Xg.154860434T>CCA414902843F8c.6898A>G (p.Lys2300Glu)
c.631A>G (p.Lys211Glu)
c.493A>G (p.Lys165Glu)
c.6793A>G (p.Lys2265Glu)
Xg.154860434T>GCA414902825F8c.6898A>C (p.Lys2300Gln)
c.631A>C (p.Lys211Gln)
c.493A>C (p.Lys165Gln)
c.6793A>C (p.Lys2265Gln)
Xg.154860435T>ACA519356034F8c.6897A>T (p.Val2299=)
c.630A>T (p.Val210=)
c.492A>T (p.Val164=)
c.6792A>T (p.Val2264=)
Xg.154860435T>CCA519356033F8c.6897A>G (p.Val2299=)
c.630A>G (p.Val210=)
c.492A>G (p.Val164=)
c.6792A>G (p.Val2264=)
Xg.154860435T>GCA519356032F8c.6897A>C (p.Val2299=)
c.630A>C (p.Val210=)
c.492A>C (p.Val164=)
c.6792A>C (p.Val2264=)
Xg.154860436A>CCA414902856F8c.6896T>G (p.Val2299Gly)
c.629T>G (p.Val210Gly)
c.491T>G (p.Val164Gly)
c.6791T>G (p.Val2264Gly)
Xg.154860436A>GCA414902847F8c.6896T>C (p.Val2299Ala)
c.629T>C (p.Val210Ala)
c.491T>C (p.Val164Ala)
c.6791T>C (p.Val2264Ala)
Xg.154860436A>TCA414902852F8c.6896T>A (p.Val2299Glu)
c.629T>A (p.Val210Glu)
c.491T>A (p.Val164Glu)
c.6791T>A (p.Val2264Glu)
Xg.154860437C>ACA414902859F8c.6895G>T (p.Val2299Leu)
c.628G>T (p.Val210Leu)
c.490G>T (p.Val164Leu)
c.6790G>T (p.Val2264Leu)
Xg.154860437C>GCA414902863F8c.6895G>C (p.Val2299Leu)
c.628G>C (p.Val210Leu)
c.490G>C (p.Val164Leu)
c.6790G>C (p.Val2264Leu)
Xg.154860437C>TCA414902864F8c.6895G>A (p.Val2299Ile)
c.628G>A (p.Val210Ile)
c.490G>A (p.Val164Ile)
c.6790G>A (p.Val2264Ile)
Xg.154860437_154860438insGTTCA2695237121F8c.6894_6895insAAC (p.Lys2298_Val2299insAsn)
c.627_628insAAC (p.Lys209_Val210insAsn)
c.489_490insAAC (p.Lys163_Val164insAsn)
c.6789_6790insAAC (p.Lys2263_Val2264insAsn)
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)
Xg.154860451A>GCA414903043F8c.6881T>C (p.Phe2294Ser)
c.614T>C (p.Phe205Ser)
c.476T>C (p.Phe159Ser)
c.6776T>C (p.Phe2259Ser)
Xg.154860451A>TCA414903046F8c.6881T>A (p.Phe2294Tyr)
c.614T>A (p.Phe205Tyr)
c.476T>A (p.Phe159Tyr)
c.6776T>A (p.Phe2259Tyr)
Xg.154860452A>CCA414903050F8c.6880T>G (p.Phe2294Val)
c.613T>G (p.Phe205Val)
c.475T>G (p.Phe159Val)
c.6775T>G (p.Phe2259Val)
Xg.154860452A>GCA414903059F8c.6880T>C (p.Phe2294Leu)
c.613T>C (p.Phe205Leu)
c.475T>C (p.Phe159Leu)
c.6775T>C (p.Phe2259Leu)
Xg.154860452A>TCA414903055F8c.6880T>A (p.Phe2294Ile)
c.613T>A (p.Phe205Ile)
c.475T>A (p.Phe159Ile)
c.6775T>A (p.Phe2259Ile)
Xg.154860453A>CCA414903070F8c.6879T>G (p.Phe2293Leu)
c.612T>G (p.Phe204Leu)
c.474T>G (p.Phe158Leu)
c.6774T>G (p.Phe2258Leu)
Xg.154860453A>GCA519356047F8c.6879T>C (p.Phe2293=)
c.612T>C (p.Phe204=)
c.474T>C (p.Phe158=)
c.6774T>C (p.Phe2258=)
Xg.154860453A>TCA414903076F8c.6879T>A (p.Phe2293Leu)
c.612T>A (p.Phe204Leu)
c.474T>A (p.Phe158Leu)
c.6774T>A (p.Phe2258Leu)
Xg.154860454A>CCA414903083F8c.6878T>G (p.Phe2293Cys)
c.611T>G (p.Phe204Cys)
c.473T>G (p.Phe158Cys)
c.6773T>G (p.Phe2258Cys)
 gnomAD v4
Xg.154860454A>GCA414903086F8c.6878T>C (p.Phe2293Ser)
c.611T>C (p.Phe204Ser)
c.473T>C (p.Phe158Ser)
c.6773T>C (p.Phe2258Ser)
Xg.154860454A>TCA414903090F8c.6878T>A (p.Phe2293Tyr)
c.611T>A (p.Phe204Tyr)
c.473T>A (p.Phe158Tyr)
c.6773T>A (p.Phe2258Tyr)
Xg.154860454_154860456delinsAAGCA2466814981F8c.6876_6878delinsCTT (p.Leu2292=)
c.609_611delinsCTT (p.Leu203=)
c.471_473delinsCTT (p.Leu157=)
c.6771_6773delinsCTT (p.Leu2257=)
Xg.154860455A>CCA414903091F8c.6877T>G (p.Phe2293Val)
c.610T>G (p.Phe204Val)
c.472T>G (p.Phe158Val)
c.6772T>G (p.Phe2258Val)
Xg.154860455A>GCA414903092F8c.6877T>C (p.Phe2293Leu)
c.610T>C (p.Phe204Leu)
c.472T>C (p.Phe158Leu)
c.6772T>C (p.Phe2258Leu)
Xg.154860455A>TCA414903094F8c.6877T>A (p.Phe2293Ile)
c.610T>A (p.Phe204Ile)
c.472T>A (p.Phe158Ile)
c.6772T>A (p.Phe2258Ile)
Xg.154860459_154860460delCA873368227F8c.6876_6877del (p.Phe2294SerfsTer?)
c.609_610del (p.Phe205SerfsTer?)
c.471_472del (p.Phe159SerfsTer?)
c.6771_6772del (p.Phe2259SerfsTer?)
 ClinVar dbSNP
Xg.154860456G>ACA519356049F8c.6876C>T (p.Leu2292=)
c.609C>T (p.Leu203=)
c.471C>T (p.Leu157=)
c.6771C>T (p.Leu2257=)
 gnomAD v4
Xg.154860456G>CCA519356051F8c.6876C>G (p.Leu2292=)
c.609C>G (p.Leu203=)
c.471C>G (p.Leu157=)
c.6771C>G (p.Leu2257=)
 dbSNP
Xg.154860456G=CA2466814982F8c.6876C= (p.Leu2292=)
c.609C= (p.Leu203=)
c.471C= (p.Leu157=)
c.6771C= (p.Leu2257=)
Xg.154860456G>TCA519356050F8c.6876C>A (p.Leu2292=)
c.609C>A (p.Leu203=)
c.471C>A (p.Leu157=)
c.6771C>A (p.Leu2257=)
Xg.154860457A>CCA414903100F8c.6875T>G (p.Leu2292Arg)
c.608T>G (p.Leu203Arg)
c.470T>G (p.Leu157Arg)
c.6770T>G (p.Leu2257Arg)
Xg.154860457A>GCA414903103F8c.6875T>C (p.Leu2292Pro)
c.608T>C (p.Leu203Pro)
c.470T>C (p.Leu157Pro)
c.6770T>C (p.Leu2257Pro)
Xg.154860457A>TCA414903106F8c.6875T>A (p.Leu2292His)
c.608T>A (p.Leu203His)
c.470T>A (p.Leu157His)
c.6770T>A (p.Leu2257His)
Xg.154860458G>ACA414903125F8c.6874C>T (p.Leu2292Phe)
c.607C>T (p.Leu203Phe)
c.469C>T (p.Leu157Phe)
c.6769C>T (p.Leu2257Phe)
Xg.154860458G>CCA414903127F8c.6874C>G (p.Leu2292Val)
c.607C>G (p.Leu203Val)
c.469C>G (p.Leu157Val)
c.6769C>G (p.Leu2257Val)
 gnomAD v4
Xg.154860458G>TCA414903120F8c.6874C>A (p.Leu2292Ile)
c.607C>A (p.Leu203Ile)
c.469C>A (p.Leu157Ile)
c.6769C>A (p.Leu2257Ile)
Xg.154860459A>CCA519356053F8c.6873T>G (p.Thr2291=)
c.606T>G (p.Thr202=)
c.468T>G (p.Thr156=)
c.6768T>G (p.Thr2256=)
Xg.154860459A>GCA519356054F8c.6873T>C (p.Thr2291=)
c.606T>C (p.Thr202=)
c.468T>C (p.Thr156=)
c.6768T>C (p.Thr2256=)
Xg.154860459A>TCA519356055F8c.6873T>A (p.Thr2291=)
c.606T>A (p.Thr202=)
c.468T>A (p.Thr156=)
c.6768T>A (p.Thr2256=)
Xg.154860460G>ACA414903134F8c.6872C>T (p.Thr2291Ile)
c.605C>T (p.Thr202Ile)
c.467C>T (p.Thr156Ile)
c.6767C>T (p.Thr2256Ile)
Xg.154860460G>CCA414903130F8c.6872C>G (p.Thr2291Ser)
c.605C>G (p.Thr202Ser)
c.467C>G (p.Thr156Ser)
c.6767C>G (p.Thr2256Ser)
Xg.154860460G>TCA414903137F8c.6872C>A (p.Thr2291Asn)
c.605C>A (p.Thr202Asn)
c.467C>A (p.Thr156Asn)
c.6767C>A (p.Thr2256Asn)
Xg.154860461T>ACA414903141F8c.6871A>T (p.Thr2291Ser)
c.604A>T (p.Thr202Ser)
c.466A>T (p.Thr156Ser)
c.6766A>T (p.Thr2256Ser)
Xg.154860461T>CCA10567753F8c.6871A>G (p.Thr2291Ala)
c.604A>G (p.Thr202Ala)
c.466A>G (p.Thr156Ala)
c.6766A>G (p.Thr2256Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154860461T>GCA414903144F8c.6871A>C (p.Thr2291Pro)
c.604A>C (p.Thr202Pro)
c.466A>C (p.Thr156Pro)
c.6766A>C (p.Thr2256Pro)
Xg.154860461T=CA2466814983F8c.6871A= (p.Thr2291=)
c.604A= (p.Thr202=)
c.466A= (p.Thr156=)
c.6766A= (p.Thr2256=)
Xg.154860462C>ACA414903147F8c.6870G>T (p.Trp2290Cys)
c.603G>T (p.Trp201Cys)
c.465G>T (p.Trp155Cys)
c.6765G>T (p.Trp2255Cys)
Xg.154860462C>GCA414903150F8c.6870G>C (p.Trp2290Cys)
c.603G>C (p.Trp201Cys)
c.465G>C (p.Trp155Cys)
c.6765G>C (p.Trp2255Cys)
Xg.154860462C>TCA414903151F8c.6870G>A (p.Trp2290Ter)
c.603G>A (p.Trp201Ter)
c.465G>A (p.Trp155Ter)
c.6765G>A (p.Trp2255Ter)
Xg.154860463C>ACA414903154F8c.6869G>T (p.Trp2290Leu)
c.602G>T (p.Trp201Leu)
c.464G>T (p.Trp155Leu)
c.6764G>T (p.Trp2255Leu)
Xg.154860463C>GCA414903157F8c.6869G>C (p.Trp2290Ser)
c.602G>C (p.Trp201Ser)
c.464G>C (p.Trp155Ser)
c.6764G>C (p.Trp2255Ser)
Xg.154860463C>TCA414903162F8c.6869G>A (p.Trp2290Ter)
c.602G>A (p.Trp201Ter)
c.464G>A (p.Trp155Ter)
c.6764G>A (p.Trp2255Ter)
Xg.154860464A=CA2466814984F8c.6868T= (p.Trp2290=)
c.601T= (p.Trp201=)
c.463T= (p.Trp155=)
c.6763T= (p.Trp2255=)
Xg.154860464A>CCA414903172F8c.6868T>G (p.Trp2290Gly)
c.601T>G (p.Trp201Gly)
c.463T>G (p.Trp155Gly)
c.6763T>G (p.Trp2255Gly)
Xg.154860464A>GCA414903181F8c.6868T>C (p.Trp2290Arg)
c.601T>C (p.Trp201Arg)
c.463T>C (p.Trp155Arg)
c.6763T>C (p.Trp2255Arg)
 ClinVar dbSNP
Xg.154860464A>TCA414903186F8c.6868T>A (p.Trp2290Arg)
c.601T>A (p.Trp201Arg)
c.463T>A (p.Trp155Arg)
c.6763T>A (p.Trp2255Arg)
Xg.154860465C>ACA414903191F8c.6867G>T (p.Gln2289His)
c.600G>T (p.Gln200His)
c.462G>T (p.Gln154His)
c.6762G>T (p.Gln2254His)
Xg.154860465C>GCA414903198F8c.6867G>C (p.Gln2289His)
c.600G>C (p.Gln200His)
c.462G>C (p.Gln154His)
c.6762G>C (p.Gln2254His)
Xg.154860465C>TCA519356059F8c.6867G>A (p.Gln2289=)
c.600G>A (p.Gln200=)
c.462G>A (p.Gln154=)
c.6762G>A (p.Gln2254=)
Xg.154860467_154860477delCA2695237126F8c.6857_6867del (p.Asp2286ValfsTer?)
c.590_600del (p.Asp197ValfsTer?)
c.452_462del (p.Asp151ValfsTer?)
c.6752_6762del (p.Asp2251ValfsTer?)
Xg.154860466T>ACA414903209F8c.6866A>T (p.Gln2289Leu)
c.599A>T (p.Gln200Leu)
c.461A>T (p.Gln154Leu)
c.6761A>T (p.Gln2254Leu)
Xg.154860466T>CCA414903210F8c.6866A>G (p.Gln2289Arg)
c.599A>G (p.Gln200Arg)
c.461A>G (p.Gln154Arg)
c.6761A>G (p.Gln2254Arg)
 gnomAD v4
Xg.154860466T>GCA414903213F8c.6866A>C (p.Gln2289Pro)
c.599A>C (p.Gln200Pro)
c.461A>C (p.Gln154Pro)
c.6761A>C (p.Gln2254Pro)
Xg.154860467G>ACA255221F8c.6865C>T (p.Gln2289Ter)
c.598C>T (p.Gln200Ter)
c.460C>T (p.Gln154Ter)
c.6760C>T (p.Gln2254Ter)
 ClinVar dbSNP
Xg.154860467G>CCA414903222F8c.6865C>G (p.Gln2289Glu)
c.598C>G (p.Gln200Glu)
c.460C>G (p.Gln154Glu)
c.6760C>G (p.Gln2254Glu)
 dbSNP
Xg.154860467G=CA2466814985F8c.6865C= (p.Gln2289=)
c.598C= (p.Gln200=)
c.460C= (p.Gln154=)
c.6760C= (p.Gln2254=)
Xg.154860467G>TCA414903229F8c.6865C>A (p.Gln2289Lys)
c.598C>A (p.Gln200Lys)
c.460C>A (p.Gln154Lys)
c.6760C>A (p.Gln2254Lys)
Xg.154860468A>CCA414903236F8c.6864T>G (p.His2288Gln)
c.597T>G (p.His199Gln)
c.459T>G (p.His153Gln)
c.6759T>G (p.His2253Gln)
Xg.154860468A>GCA519356064F8c.6864T>C (p.His2288=)
c.597T>C (p.His199=)
c.459T>C (p.His153=)
c.6759T>C (p.His2253=)
Xg.154860468A>TCA414903244F8c.6864T>A (p.His2288Gln)
c.597T>A (p.His199Gln)
c.459T>A (p.His153Gln)
c.6759T>A (p.His2253Gln)
Xg.154860469T>ACA414903258F8c.6863A>T (p.His2288Leu)
c.596A>T (p.His199Leu)
c.458A>T (p.His153Leu)
c.6758A>T (p.His2253Leu)
Xg.154860469T>CCA414903263F8c.6863A>G (p.His2288Arg)
c.596A>G (p.His199Arg)
c.458A>G (p.His153Arg)
c.6758A>G (p.His2253Arg)
Xg.154860469T>GCA414903269F8c.6863A>C (p.His2288Pro)
c.596A>C (p.His199Pro)
c.458A>C (p.His153Pro)
c.6758A>C (p.His2253Pro)
Xg.154860470G>ACA414903286F8c.6862C>T (p.His2288Tyr)
c.595C>T (p.His199Tyr)
c.457C>T (p.His153Tyr)
c.6757C>T (p.His2253Tyr)
 dbSNP gnomAD v4
Xg.154860470G>CCA414903282F8c.6862C>G (p.His2288Asp)
c.595C>G (p.His199Asp)
c.457C>G (p.His153Asp)
c.6757C>G (p.His2253Asp)
Xg.154860470G=CA2466814986F8c.6862C= (p.His2288=)
c.595C= (p.His199=)
c.457C= (p.His153=)
c.6757C= (p.His2253=)
Xg.154860470G>TCA414903275F8c.6862C>A (p.His2288Asn)
c.595C>A (p.His199Asn)
c.457C>A (p.His153Asn)
c.6757C>A (p.His2253Asn)
Xg.154860471delCA2695237127F8c.6862del (p.His2288IlefsTer12)
c.595del (p.His199IlefsTer12)
c.457del (p.His153IlefsTer12)
c.6757del (p.His2253IlefsTer12)
Xg.154860471G>ACA519356070F8c.6861C>T (p.Gly2287=)
c.594C>T (p.Gly198=)
c.456C>T (p.Gly152=)
c.6756C>T (p.Gly2252=)
 gnomAD v4 COSMIC COSMIC
Xg.154860471G>CCA519356067F8c.6861C>G (p.Gly2287=)
c.594C>G (p.Gly198=)
c.456C>G (p.Gly152=)
c.6756C>G (p.Gly2252=)
 gnomAD v4
Xg.154860471G>TCA519356069F8c.6861C>A (p.Gly2287=)
c.594C>A (p.Gly198=)
c.456C>A (p.Gly152=)
c.6756C>A (p.Gly2252=)
Xg.154860472C>ACA414903301F8c.6860G>T (p.Gly2287Val)
c.593G>T (p.Gly198Val)
c.455G>T (p.Gly152Val)
c.6755G>T (p.Gly2252Val)
Xg.154860472C>GCA414903293F8c.6860G>C (p.Gly2287Ala)
c.593G>C (p.Gly198Ala)
c.455G>C (p.Gly152Ala)
c.6755G>C (p.Gly2252Ala)
Xg.154860472C>TCA414903300F8c.6860G>A (p.Gly2287Asp)
c.593G>A (p.Gly198Asp)
c.455G>A (p.Gly152Asp)
c.6755G>A (p.Gly2252Asp)
Xg.154860473C>ACA414903302F8c.6859G>T (p.Gly2287Cys)
c.592G>T (p.Gly198Cys)
c.454G>T (p.Gly152Cys)
c.6754G>T (p.Gly2252Cys)
Xg.154860473C>GCA414903305F8c.6859G>C (p.Gly2287Arg)
c.592G>C (p.Gly198Arg)
c.454G>C (p.Gly152Arg)
c.6754G>C (p.Gly2252Arg)
Xg.154860473C>TCA414903313F8c.6859G>A (p.Gly2287Ser)
c.592G>A (p.Gly198Ser)
c.454G>A (p.Gly152Ser)
c.6754G>A (p.Gly2252Ser)
Xg.154860474A>CCA414903317F8c.6858T>G (p.Asp2286Glu)
c.591T>G (p.Asp197Glu)
c.453T>G (p.Asp151Glu)
c.6753T>G (p.Asp2251Glu)
Xg.154860474A>GCA519356072F8c.6858T>C (p.Asp2286=)
c.591T>C (p.Asp197=)
c.453T>C (p.Asp151=)
c.6753T>C (p.Asp2251=)
Xg.154860474A>TCA414903321F8c.6858T>A (p.Asp2286Glu)
c.591T>A (p.Asp197Glu)
c.453T>A (p.Asp151Glu)
c.6753T>A (p.Asp2251Glu)
Xg.154860475T>ACA414903324F8c.6857A>T (p.Asp2286Val)
c.590A>T (p.Asp197Val)
c.452A>T (p.Asp151Val)
c.6752A>T (p.Asp2251Val)
 dbSNP
Xg.154860475T>CCA414903332F8c.6857A>G (p.Asp2286Gly)
c.590A>G (p.Asp197Gly)
c.452A>G (p.Asp151Gly)
c.6752A>G (p.Asp2251Gly)
Xg.154860475T>GCA414903336F8c.6857A>C (p.Asp2286Ala)
c.590A>C (p.Asp197Ala)
c.452A>C (p.Asp151Ala)
c.6752A>C (p.Asp2251Ala)
Xg.154860475T=CA2466814987F8c.6857A= (p.Asp2286=)
c.590A= (p.Asp197=)
c.452A= (p.Asp151=)
c.6752A= (p.Asp2251=)
Xg.154860476C>ACA414903341F8c.6856G>T (p.Asp2286Tyr)
c.589G>T (p.Asp197Tyr)
c.451G>T (p.Asp151Tyr)
c.6751G>T (p.Asp2251Tyr)
Xg.154860476C>GCA414903346F8c.6856G>C (p.Asp2286His)
c.589G>C (p.Asp197His)
c.451G>C (p.Asp151His)
c.6751G>C (p.Asp2251His)
Xg.154860476C>TCA414903354F8c.6856G>A (p.Asp2286Asn)
c.589G>A (p.Asp197Asn)
c.451G>A (p.Asp151Asn)
c.6751G>A (p.Asp2251Asn)
 gnomAD v4
Xg.154860477T>ACA414903368F8c.6855A>T (p.Gln2285His)
c.588A>T (p.Gln196His)
c.450A>T (p.Gln150His)
c.6750A>T (p.Gln2250His)
Xg.154860477T>CCA519356083F8c.6855A>G (p.Gln2285=)
c.588A>G (p.Gln196=)
c.450A>G (p.Gln150=)
c.6750A>G (p.Gln2250=)
 dbSNP gnomAD v2 gnomAD v4
Xg.154860477T>GCA414903370F8c.6855A>C (p.Gln2285His)
c.588A>C (p.Gln196His)
c.450A>C (p.Gln150His)
c.6750A>C (p.Gln2250His)
Xg.154860477T=CA2466814988F8c.6855A= (p.Gln2285=)
c.588A= (p.Gln196=)
c.450A= (p.Gln150=)
c.6750A= (p.Gln2250=)
Xg.154860478T>ACA414903373F8c.6854A>T (p.Gln2285Leu)
c.587A>T (p.Gln196Leu)
c.449A>T (p.Gln150Leu)
c.6749A>T (p.Gln2250Leu)
Xg.154860478T>CCA414903374F8c.6854A>G (p.Gln2285Arg)
c.587A>G (p.Gln196Arg)
c.449A>G (p.Gln150Arg)
c.6749A>G (p.Gln2250Arg)
Xg.154860478T>GCA414903375F8c.6854A>C (p.Gln2285Pro)
c.587A>C (p.Gln196Pro)
c.449A>C (p.Gln150Pro)
c.6749A>C (p.Gln2250Pro)
Xg.154860479G>ACA414903379F8c.6853C>T (p.Gln2285Ter)
c.586C>T (p.Gln196Ter)
c.448C>T (p.Gln150Ter)
c.6748C>T (p.Gln2250Ter)
Xg.154860479G>CCA414903384F8c.6853C>G (p.Gln2285Glu)
c.586C>G (p.Gln196Glu)
c.448C>G (p.Gln150Glu)
c.6748C>G (p.Gln2250Glu)
Xg.154860479G>TCA414903389F8c.6853C>A (p.Gln2285Lys)
c.586C>A (p.Gln196Lys)
c.448C>A (p.Gln150Lys)
c.6748C>A (p.Gln2250Lys)
 COSMIC COSMIC
Xg.154860480A>CCA414903393F8c.6852T>G (p.Ser2284Arg)
c.585T>G (p.Ser195Arg)
c.447T>G (p.Ser149Arg)
c.6747T>G (p.Ser2249Arg)
Xg.154860480A>GCA519356089F8c.6852T>C (p.Ser2284=)
c.585T>C (p.Ser195=)
c.447T>C (p.Ser149=)
c.6747T>C (p.Ser2249=)
Xg.154860480A>TCA414903394F8c.6852T>A (p.Ser2284Arg)
c.585T>A (p.Ser195Arg)
c.447T>A (p.Ser149Arg)
c.6747T>A (p.Ser2249Arg)
 COSMIC COSMIC
Xg.154860481C>ACA414903395F8c.6851G>T (p.Ser2284Ile)
c.584G>T (p.Ser195Ile)
c.446G>T (p.Ser149Ile)
c.6746G>T (p.Ser2249Ile)
Xg.154860481C>GCA414903398F8c.6851G>C (p.Ser2284Thr)
c.584G>C (p.Ser195Thr)
c.446G>C (p.Ser149Thr)
c.6746G>C (p.Ser2249Thr)
Xg.154860481C>TCA414903401F8c.6851G>A (p.Ser2284Asn)
c.584G>A (p.Ser195Asn)
c.446G>A (p.Ser149Asn)
c.6746G>A (p.Ser2249Asn)
Xg.154860482T>ACA414903410F8c.6850A>T (p.Ser2284Cys)
c.583A>T (p.Ser195Cys)
c.445A>T (p.Ser149Cys)
c.6745A>T (p.Ser2249Cys)
Xg.154860482T>CCA414903413F8c.6850A>G (p.Ser2284Gly)
c.583A>G (p.Ser195Gly)
c.445A>G (p.Ser149Gly)
c.6745A>G (p.Ser2249Gly)
Xg.154860482T>GCA414903408F8c.6850A>C (p.Ser2284Arg)
c.583A>C (p.Ser195Arg)
c.445A>C (p.Ser149Arg)
c.6745A>C (p.Ser2249Arg)
Xg.154860483G>ACA519356091F8c.6849C>T (p.Ser2283=)
c.582C>T (p.Ser194=)
c.444C>T (p.Ser148=)
c.6744C>T (p.Ser2248=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154860483G>CCA414903414F8c.6849C>G (p.Ser2283Arg)
c.582C>G (p.Ser194Arg)
c.444C>G (p.Ser148Arg)
c.6744C>G (p.Ser2248Arg)
Xg.154860483G=CA2466814989F8c.6849C= (p.Ser2283=)
c.582C= (p.Ser194=)
c.444C= (p.Ser148=)
c.6744C= (p.Ser2248=)
Xg.154860483G>TCA414903415F8c.6849C>A (p.Ser2283Arg)
c.582C>A (p.Ser194Arg)
c.444C>A (p.Ser148Arg)
c.6744C>A (p.Ser2248Arg)
 gnomAD v4
Xg.154860484C>ACA414903418F8c.6848G>T (p.Ser2283Ile)
c.581G>T (p.Ser194Ile)
c.443G>T (p.Ser148Ile)
c.6743G>T (p.Ser2248Ile)
Xg.154860484C>GCA414903420F8c.6848G>C (p.Ser2283Thr)
c.581G>C (p.Ser194Thr)
c.443G>C (p.Ser148Thr)
c.6743G>C (p.Ser2248Thr)
Xg.154860484C>TCA414903423F8c.6848G>A (p.Ser2283Asn)
c.581G>A (p.Ser194Asn)
c.443G>A (p.Ser148Asn)
c.6743G>A (p.Ser2248Asn)
 COSMIC COSMIC
Xg.154860485T>ACA414903426F8c.6847A>T (p.Ser2283Cys)
c.580A>T (p.Ser194Cys)
c.442A>T (p.Ser148Cys)
c.6742A>T (p.Ser2248Cys)
Xg.154860485T>CCA414903427F8c.6847A>G (p.Ser2283Gly)
c.580A>G (p.Ser194Gly)
c.442A>G (p.Ser148Gly)
c.6742A>G (p.Ser2248Gly)
Xg.154860485T>GCA414903429F8c.6847A>C (p.Ser2283Arg)
c.580A>C (p.Ser194Arg)
c.442A>C (p.Ser148Arg)
c.6742A>C (p.Ser2248Arg)
Xg.154860486G>ACA519356096F8c.6846C>T (p.Ser2282=)
c.579C>T (p.Ser193=)
c.441C>T (p.Ser147=)
c.6741C>T (p.Ser2247=)
Xg.154860486G>CCA519356099F8c.6846C>G (p.Ser2282=)
c.579C>G (p.Ser193=)
c.441C>G (p.Ser147=)
c.6741C>G (p.Ser2247=)
Xg.154860486G>TCA519356102F8c.6846C>A (p.Ser2282=)
c.579C>A (p.Ser193=)
c.441C>A (p.Ser147=)
c.6741C>A (p.Ser2247=)
Xg.154860487delCA2539880297F8c.6846del (p.Ser2283AlafsTer17)
c.579del (p.Ser194AlafsTer17)
c.441del (p.Ser148AlafsTer17)
c.6741del (p.Ser2248AlafsTer17)
Xg.154860487G>ACA414903432F8c.6845C>T (p.Ser2282Phe)
c.578C>T (p.Ser193Phe)
c.440C>T (p.Ser147Phe)
c.6740C>T (p.Ser2247Phe)
 dbSNP COSMIC COSMIC
Xg.154860487G>CCA414903435F8c.6845C>G (p.Ser2282Cys)
c.578C>G (p.Ser193Cys)
c.440C>G (p.Ser147Cys)
c.6740C>G (p.Ser2247Cys)
Xg.154860487G=CA2466814990F8c.6845C= (p.Ser2282=)
c.578C= (p.Ser193=)
c.440C= (p.Ser147=)
c.6740C= (p.Ser2247=)
Xg.154860487G>TCA414903441F8c.6845C>A (p.Ser2282Tyr)
c.578C>A (p.Ser193Tyr)
c.440C>A (p.Ser147Tyr)
c.6740C>A (p.Ser2247Tyr)
Xg.154860488A>CCA414903449F8c.6844T>G (p.Ser2282Ala)
c.577T>G (p.Ser193Ala)
c.439T>G (p.Ser147Ala)
c.6739T>G (p.Ser2247Ala)
Xg.154860488A>GCA414903452F8c.6844T>C (p.Ser2282Pro)
c.577T>C (p.Ser193Pro)
c.439T>C (p.Ser147Pro)
c.6739T>C (p.Ser2247Pro)
Xg.154860488A>TCA414903454F8c.6844T>A (p.Ser2282Thr)
c.577T>A (p.Ser193Thr)
c.439T>A (p.Ser147Thr)
c.6739T>A (p.Ser2247Thr)
Xg.154860489delCA2695237128F8c.6843del (p.Ser2282ProfsTer18)
c.576del (p.Ser193ProfsTer18)
c.438del (p.Ser147ProfsTer18)
c.6738del (p.Ser2247ProfsTer18)
Xg.154860489G>ACA519356104F8c.6843C>T (p.Ile2281=)
c.576C>T (p.Ile192=)
c.438C>T (p.Ile146=)
c.6738C>T (p.Ile2246=)
 dbSNP
Xg.154860489G>CCA414903456F8c.6843C>G (p.Ile2281Met)
c.576C>G (p.Ile192Met)
c.438C>G (p.Ile146Met)
c.6738C>G (p.Ile2246Met)
Xg.154860489G=CA2466814991F8c.6843C= (p.Ile2281=)
c.576C= (p.Ile192=)
c.438C= (p.Ile146=)
c.6738C= (p.Ile2246=)
Xg.154860489G>TCA519356107F8c.6843C>A (p.Ile2281=)
c.576C>A (p.Ile192=)
c.438C>A (p.Ile146=)
c.6738C>A (p.Ile2246=)
Xg.154860490A>CCA414903460F8c.6842T>G (p.Ile2281Ser)
c.575T>G (p.Ile192Ser)
c.437T>G (p.Ile146Ser)
c.6737T>G (p.Ile2246Ser)
Xg.154860490A>GCA414903462F8c.6842T>C (p.Ile2281Thr)
c.575T>C (p.Ile192Thr)
c.437T>C (p.Ile146Thr)
c.6737T>C (p.Ile2246Thr)
Xg.154860490A>TCA414903468F8c.6842T>A (p.Ile2281Asn)
c.575T>A (p.Ile192Asn)
c.437T>A (p.Ile146Asn)
c.6737T>A (p.Ile2246Asn)
Xg.154860491T>ACA414903479F8c.6841A>T (p.Ile2281Phe)
c.574A>T (p.Ile192Phe)
c.436A>T (p.Ile146Phe)
c.6736A>T (p.Ile2246Phe)
Xg.154860491T>CCA414903482F8c.6841A>G (p.Ile2281Val)
c.574A>G (p.Ile192Val)
c.436A>G (p.Ile146Val)
c.6736A>G (p.Ile2246Val)
Xg.154860491T>GCA414903488F8c.6841A>C (p.Ile2281Leu)
c.574A>C (p.Ile192Leu)
c.436A>C (p.Ile146Leu)
c.6736A>C (p.Ile2246Leu)
Xg.154860492G>ACA519356116F8c.6840C>T (p.Leu2280=)
c.573C>T (p.Leu191=)
c.435C>T (p.Leu145=)
c.6735C>T (p.Leu2245=)
Xg.154860492G>CCA519356118F8c.6840C>G (p.Leu2280=)
c.573C>G (p.Leu191=)
c.435C>G (p.Leu145=)
c.6735C>G (p.Leu2245=)
Xg.154860492G>TCA519356119F8c.6840C>A (p.Leu2280=)
c.573C>A (p.Leu191=)
c.435C>A (p.Leu145=)
c.6735C>A (p.Leu2245=)
Xg.154860493A>CCA414903491F8c.6839T>G (p.Leu2280Arg)
c.572T>G (p.Leu191Arg)
c.434T>G (p.Leu145Arg)
c.6734T>G (p.Leu2245Arg)
Xg.154860493A>GCA414903492F8c.6839T>C (p.Leu2280Pro)
c.572T>C (p.Leu191Pro)
c.434T>C (p.Leu145Pro)
c.6734T>C (p.Leu2245Pro)
Xg.154860493A>TCA414903493F8c.6839T>A (p.Leu2280His)
c.572T>A (p.Leu191His)
c.434T>A (p.Leu145His)
c.6734T>A (p.Leu2245His)
Xg.154860494G>ACA414903496F8c.6838C>T (p.Leu2280Phe)
c.571C>T (p.Leu191Phe)
c.433C>T (p.Leu145Phe)
c.6733C>T (p.Leu2245Phe)
 dbSNP
Xg.154860494G>CCA414903499F8c.6838C>G (p.Leu2280Val)
c.571C>G (p.Leu191Val)
c.433C>G (p.Leu145Val)
c.6733C>G (p.Leu2245Val)
Xg.154860494G>TCA414903502F8c.6838C>A (p.Leu2280Ile)
c.571C>A (p.Leu191Ile)
c.433C>A (p.Leu145Ile)
c.6733C>A (p.Leu2245Ile)
Xg.154860495G>ACA519356123F8c.6837C>T (p.Phe2279=)
c.570C>T (p.Phe190=)
c.432C>T (p.Phe144=)
c.6732C>T (p.Phe2244=)
Xg.154860495G>CCA414903506F8c.6837C>G (p.Phe2279Leu)
c.570C>G (p.Phe190Leu)
c.432C>G (p.Phe144Leu)
c.6732C>G (p.Phe2244Leu)
Xg.154860495G=CA2466814992F8c.6837C= (p.Phe2279=)
c.570C= (p.Phe190=)
c.432C= (p.Phe144=)
c.6732C= (p.Phe2244=)
Xg.154860495G>TCA414903509F8c.6837C>A (p.Phe2279Leu)
c.570C>A (p.Phe190Leu)
c.432C>A (p.Phe144Leu)
c.6732C>A (p.Phe2244Leu)
 dbSNP
Xg.154860496A>CCA414903520F8c.6836T>G (p.Phe2279Cys)
c.569T>G (p.Phe190Cys)
c.431T>G (p.Phe144Cys)
c.6731T>G (p.Phe2244Cys)
Xg.154860496A>GCA414903521F8c.6836T>C (p.Phe2279Ser)
c.569T>C (p.Phe190Ser)
c.431T>C (p.Phe144Ser)
c.6731T>C (p.Phe2244Ser)
Xg.154860496A>TCA414903522F8c.6836T>A (p.Phe2279Tyr)
c.569T>A (p.Phe190Tyr)
c.431T>A (p.Phe144Tyr)
c.6731T>A (p.Phe2244Tyr)
Xg.154860497A=CA2466814993F8c.6835T= (p.Phe2279=)
c.568T= (p.Phe190=)
c.430T= (p.Phe144=)
c.6730T= (p.Phe2244=)
Xg.154860497A>CCA414903524F8c.6835T>G (p.Phe2279Val)
c.568T>G (p.Phe190Val)
c.430T>G (p.Phe144Val)
c.6730T>G (p.Phe2244Val)
Xg.154860497A>GCA414903528F8c.6835T>C (p.Phe2279Leu)
c.568T>C (p.Phe190Leu)
c.430T>C (p.Phe144Leu)
c.6730T>C (p.Phe2244Leu)
Xg.154860497A>TCA10567754F8c.6835T>A (p.Phe2279Ile)
c.568T>A (p.Phe190Ile)
c.430T>A (p.Phe144Ile)
c.6730T>A (p.Phe2244Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154860498C>ACA414903540F8c.6834G>T (p.Glu2278Asp)
c.567G>T (p.Glu189Asp)
c.429G>T (p.Glu143Asp)
c.6729G>T (p.Glu2243Asp)
 ClinVar dbSNP
Xg.154860498C=CA2466814994F8c.6834G= (p.Glu2278=)
c.567G= (p.Glu189=)
c.429G= (p.Glu143=)
c.6729G= (p.Glu2243=)
Xg.154860498C>GCA414903543F8c.6834G>C (p.Glu2278Asp)
c.567G>C (p.Glu189Asp)
c.429G>C (p.Glu143Asp)
c.6729G>C (p.Glu2243Asp)
Xg.154860498C>TCA519356126F8c.6834G>A (p.Glu2278=)
c.567G>A (p.Glu189=)
c.429G>A (p.Glu143=)
c.6729G>A (p.Glu2243=)
 dbSNP gnomAD v4
Xg.154860499T>ACA414903551F8c.6833A>T (p.Glu2278Val)
c.566A>T (p.Glu189Val)
c.428A>T (p.Glu143Val)
c.6728A>T (p.Glu2243Val)
 COSMIC COSMIC
Xg.154860499T>CCA414903570F8c.6833A>G (p.Glu2278Gly)
c.566A>G (p.Glu189Gly)
c.428A>G (p.Glu143Gly)
c.6728A>G (p.Glu2243Gly)
 dbSNP gnomAD v3 gnomAD v4
Xg.154860499T>GCA414903575F8c.6833A>C (p.Glu2278Ala)
c.566A>C (p.Glu189Ala)
c.428A>C (p.Glu143Ala)
c.6728A>C (p.Glu2243Ala)
 COSMIC COSMIC
Xg.154860499T=CA2466814995F8c.6833A= (p.Glu2278=)
c.566A= (p.Glu189=)
c.428A= (p.Glu143=)
c.6728A= (p.Glu2243=)
Xg.154860500C>ACA414903610F8c.6832G>T (p.Glu2278Ter)
c.565G>T (p.Glu189Ter)
c.427G>T (p.Glu143Ter)
c.6727G>T (p.Glu2243Ter)
Xg.154860500C=CA2466814996F8c.6832G= (p.Glu2278=)
c.565G= (p.Glu189=)
c.427G= (p.Glu143=)
c.6727G= (p.Glu2243=)
Xg.154860500C>GCA337325917F8c.6832G>C (p.Glu2278Gln)
c.565G>C (p.Glu189Gln)
c.427G>C (p.Glu143Gln)
c.6727G>C (p.Glu2243Gln)
 dbSNP gnomAD v4
Xg.154860500C>TCA414903581F8c.6832G>A (p.Glu2278Lys)
c.565G>A (p.Glu189Lys)
c.427G>A (p.Glu143Lys)
c.6727G>A (p.Glu2243Lys)
 dbSNP gnomAD v3 gnomAD v4
Xg.154860501C>ACA414903612F8c.6831G>T (p.Lys2277Asn)
c.564G>T (p.Lys188Asn)
c.426G>T (p.Lys142Asn)
c.6726G>T (p.Lys2242Asn)
Xg.154860501C>GCA414903613F8c.6831G>C (p.Lys2277Asn)
c.564G>C (p.Lys188Asn)
c.426G>C (p.Lys142Asn)
c.6726G>C (p.Lys2242Asn)
Xg.154860501C>TCA519356135F8c.6831G>A (p.Lys2277=)
c.564G>A (p.Lys188=)
c.426G>A (p.Lys142=)
c.6726G>A (p.Lys2242=)
Xg.154860502T>ACA414903619F8c.6830A>T (p.Lys2277Met)
c.563A>T (p.Lys188Met)
c.425A>T (p.Lys142Met)
c.6725A>T (p.Lys2242Met)
Xg.154860502T>CCA414903626F8c.6830A>G (p.Lys2277Arg)
c.563A>G (p.Lys188Arg)
c.425A>G (p.Lys142Arg)
c.6725A>G (p.Lys2242Arg)
Xg.154860502T>GCA414903632F8c.6830A>C (p.Lys2277Thr)
c.563A>C (p.Lys188Thr)
c.425A>C (p.Lys142Thr)
c.6725A>C (p.Lys2242Thr)
 gnomAD v4
Xg.154860503T>ACA414903635F8c.6829A>T (p.Lys2277Ter)
c.562A>T (p.Lys188Ter)
c.424A>T (p.Lys142Ter)
c.6724A>T (p.Lys2242Ter)
Xg.154860503T>CCA414903638F8c.6829A>G (p.Lys2277Glu)
c.562A>G (p.Lys188Glu)
c.424A>G (p.Lys142Glu)
c.6724A>G (p.Lys2242Glu)
Xg.154860503T>GCA414903646F8c.6829A>C (p.Lys2277Gln)
c.562A>C (p.Lys188Gln)
c.424A>C (p.Lys142Gln)
c.6724A>C (p.Lys2242Gln)
Xg.154860503T=CA2466814997F8c.6829A= (p.Lys2277=)
c.562A= (p.Lys188=)
c.424A= (p.Lys142=)
c.6724A= (p.Lys2242=)
Xg.154860504C>ACA519356140F8c.6828G>T (p.Val2276=)
c.561G>T (p.Val187=)
c.423G>T (p.Val141=)
c.6723G>T (p.Val2241=)
Xg.154860504C>GCA519356141F8c.6828G>C (p.Val2276=)
c.561G>C (p.Val187=)
c.423G>C (p.Val141=)
c.6723G>C (p.Val2241=)
Xg.154860504C>TCA519356142F8c.6828G>A (p.Val2276=)
c.561G>A (p.Val187=)
c.423G>A (p.Val141=)
c.6723G>A (p.Val2241=)
 gnomAD v4 COSMIC COSMIC
Xg.154860504dupCA873368334F8c.6828dup (p.Lys2277GlufsTer?)
c.561dup (p.Lys188GlufsTer?)
c.423dup (p.Lys142GlufsTer?)
c.6723dup (p.Lys2242GlufsTer?)
 dbSNP
Xg.154860505A>CCA414903654F8c.6827T>G (p.Val2276Gly)
c.560T>G (p.Val187Gly)
c.422T>G (p.Val141Gly)
c.6722T>G (p.Val2241Gly)
Xg.154860505A>GCA414903663F8c.6827T>C (p.Val2276Ala)
c.560T>C (p.Val187Ala)
c.422T>C (p.Val141Ala)
c.6722T>C (p.Val2241Ala)
Xg.154860505A>TCA414903677F8c.6827T>A (p.Val2276Glu)
c.560T>A (p.Val187Glu)
c.422T>A (p.Val141Glu)
c.6722T>A (p.Val2241Glu)
Xg.154860506C>ACA414903698F8c.6826G>T (p.Val2276Leu)
c.559G>T (p.Val187Leu)
c.421G>T (p.Val141Leu)
c.6721G>T (p.Val2241Leu)
Xg.154860506C=CA2466814998F8c.6826G= (p.Val2276=)
c.559G= (p.Val187=)
c.421G= (p.Val141=)
c.6721G= (p.Val2241=)
Xg.154860506C>GCA414903690F8c.6826G>C (p.Val2276Leu)
c.559G>C (p.Val187Leu)
c.421G>C (p.Val141Leu)
c.6721G>C (p.Val2241Leu)
 dbSNP gnomAD v2 gnomAD v4
Xg.154860506C>TCA414903683F8c.6826G>A (p.Val2276Met)
c.559G>A (p.Val187Met)
c.421G>A (p.Val141Met)
c.6721G>A (p.Val2241Met)
 gnomAD v4
Xg.154860507delCA2695237129F8c.6825del (p.Tyr2275Ter)
c.558del (p.Tyr186Ter)
c.420del (p.Tyr140Ter)
c.6720del (p.Tyr2240Ter)
Xg.154860507A>CCA414903722F8c.6825T>G (p.Tyr2275Ter)
c.558T>G (p.Tyr186Ter)
c.420T>G (p.Tyr140Ter)
c.6720T>G (p.Tyr2240Ter)
Xg.154860507A>GCA519356148F8c.6825T>C (p.Tyr2275=)
c.558T>C (p.Tyr186=)
c.420T>C (p.Tyr140=)
c.6720T>C (p.Tyr2240=)
 gnomAD v4
Xg.154860507A>TCA414903745F8c.6825T>A (p.Tyr2275Ter)
c.558T>A (p.Tyr186Ter)
c.420T>A (p.Tyr140Ter)
c.6720T>A (p.Tyr2240Ter)
 ClinVar
Xg.154860508T>ACA414903750F8c.6824A>T (p.Tyr2275Phe)
c.557A>T (p.Tyr186Phe)
c.419A>T (p.Tyr140Phe)
c.6719A>T (p.Tyr2240Phe)
Xg.154860508T>CCA414903754F8c.6824A>G (p.Tyr2275Cys)
c.557A>G (p.Tyr186Cys)
c.419A>G (p.Tyr140Cys)
c.6719A>G (p.Tyr2240Cys)
Xg.154860508T>GCA414903752F8c.6824A>C (p.Tyr2275Ser)
c.557A>C (p.Tyr186Ser)
c.419A>C (p.Tyr140Ser)
c.6719A>C (p.Tyr2240Ser)
Xg.154860509A=CA2466814999F8c.6823T= (p.Tyr2275=)
c.556T= (p.Tyr186=)
c.418T= (p.Tyr140=)
c.6718T= (p.Tyr2240=)
Xg.154860509A>CCA414903759F8c.6823T>G (p.Tyr2275Asp)
c.556T>G (p.Tyr186Asp)
c.418T>G (p.Tyr140Asp)
c.6718T>G (p.Tyr2240Asp)
Xg.154860509A>GCA414903766F8c.6823T>C (p.Tyr2275His)
c.556T>C (p.Tyr186His)
c.418T>C (p.Tyr140His)
c.6718T>C (p.Tyr2240His)
 dbSNP gnomAD v4
Xg.154860509A>TCA414903772F8c.6823T>A (p.Tyr2275Asn)
c.556T>A (p.Tyr186Asn)
c.418T>A (p.Tyr140Asn)
c.6718T>A (p.Tyr2240Asn)
 dbSNP
Xg.154860509_154860510insACATAAAAAGGTTGATATATGACCAAATTTTCA2560679545F8c.6822_6823insAAAATTTGGTCATATATCAACCTTTTTATGT (p.Tyr2275LysfsTer?)
c.555_556insAAAATTTGGTCATATATCAACCTTTTTATGT (p.Tyr186LysfsTer?)
c.417_418insAAAATTTGGTCATATATCAACCTTTTTATGT (p.Tyr140LysfsTer?)
c.6717_6718insAAAATTTGGTCATATATCAACCTTTTTATGT (p.Tyr2240LysfsTer?)
Xg.154860510C>ACA414903775F8c.6822G>T (p.Met2274Ile)
c.555G>T (p.Met185Ile)
c.417G>T (p.Met139Ile)
c.6717G>T (p.Met2239Ile)
Xg.154860510C>GCA414903803F8c.6822G>C (p.Met2274Ile)
c.555G>C (p.Met185Ile)
c.417G>C (p.Met139Ile)
c.6717G>C (p.Met2239Ile)
Xg.154860510C>TCA414903809F8c.6822G>A (p.Met2274Ile)
c.555G>A (p.Met185Ile)
c.417G>A (p.Met139Ile)
c.6717G>A (p.Met2239Ile)
Xg.154860511A>CCA414903815F8c.6821T>G (p.Met2274Arg)
c.554T>G (p.Met185Arg)
c.416T>G (p.Met139Arg)
c.6716T>G (p.Met2239Arg)
Xg.154860511A>GCA414903819F8c.6821T>C (p.Met2274Thr)
c.554T>C (p.Met185Thr)
c.416T>C (p.Met139Thr)
c.6716T>C (p.Met2239Thr)
 ClinVar
Xg.154860511A>TCA414903826F8c.6821T>A (p.Met2274Lys)
c.554T>A (p.Met185Lys)
c.416T>A (p.Met139Lys)
c.6716T>A (p.Met2239Lys)
Xg.154860512T>ACA414903831F8c.6820A>T (p.Met2274Leu)
c.553A>T (p.Met185Leu)
c.415A>T (p.Met139Leu)
c.6715A>T (p.Met2239Leu)
Xg.154860512T>CCA414903832F8c.6820A>G (p.Met2274Val)
c.553A>G (p.Met185Val)
c.415A>G (p.Met139Val)
c.6715A>G (p.Met2239Val)
 dbSNP
Xg.154860512T>GCA414903834F8c.6820A>C (p.Met2274Leu)
c.553A>C (p.Met185Leu)
c.415A>C (p.Met139Leu)
c.6715A>C (p.Met2239Leu)
Xg.154860512T=CA2466815000F8c.6820A= (p.Met2274=)
c.553A= (p.Met185=)
c.415A= (p.Met139=)
c.6715A= (p.Met2239=)
Xg.154860513G>ACA519356165F8c.6819C>T (p.Ser2273=)
c.552C>T (p.Ser184=)
c.414C>T (p.Ser138=)
c.6714C>T (p.Ser2238=)
Xg.154860513G>CCA414903838F8c.6819C>G (p.Ser2273Arg)
c.552C>G (p.Ser184Arg)
c.414C>G (p.Ser138Arg)
c.6714C>G (p.Ser2238Arg)
Xg.154860513G>TCA414903841F8c.6819C>A (p.Ser2273Arg)
c.552C>A (p.Ser184Arg)
c.414C>A (p.Ser138Arg)
c.6714C>A (p.Ser2238Arg)

Number of alleles fetched