Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.73640971_73640978delCA2577005384NAT8c.652_659del (p.His218PhefsTer3)
2g.73640978G>ACA1715637NAT8c.651C>T (p.Tyr217=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73640978G>CCA347286087NAT8c.651C>G (p.Tyr217Ter)
2g.73640978G=CA1261057098NAT8c.651C= (p.Tyr217=)
2g.73640978G>TCA347286089NAT8c.651C>A (p.Tyr217Ter)
gnomAD v4
2g.73640979T>ACA347286091NAT8c.650A>T (p.Tyr217Phe)
gnomAD v4
2g.73640979T>CCA347286093NAT8c.650A>G (p.Tyr217Cys)
2g.73640979T>GCA347286096NAT8c.650A>C (p.Tyr217Ser)
2g.73640980A>CCA347286099NAT8c.649T>G (p.Tyr217Asp)
2g.73640980A>GCA347286101NAT8c.649T>C (p.Tyr217His)
gnomAD v4
2g.73640980A>TCA347286098NAT8c.649T>A (p.Tyr217Asn)
2g.73640981G>ACA427024279NAT8c.648C>T (p.Ile216=)
2g.73640981G>CCA347286103NAT8c.648C>G (p.Ile216Met)
2g.73640981G>TCA427024280NAT8c.648C>A (p.Ile216=)
2g.73640981_73640986delinsGATGAACA1261057099NAT8c.643_648delinsTTCATC (p.Phe215=)
2g.73640982A>CCA347286106NAT8c.647T>G (p.Ile216Ser)
2g.73640982A>GCA347286108NAT8c.647T>C (p.Ile216Thr)
2g.73640982A>TCA347286110NAT8c.647T>A (p.Ile216Asn)
2g.73640987_73640991delCA1715638NAT8c.643_647del (p.Phe215LeufsTer7)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73640983T>ACA347286119NAT8c.646A>T (p.Ile216Phe)
2g.73640983T>CCA347286112NAT8c.646A>G (p.Ile216Val)
2g.73640983T>GCA347286116NAT8c.646A>C (p.Ile216Leu)
2g.73640984G>ACA427024287NAT8c.645C>T (p.Phe215=)
2g.73640984G>CCA347286121NAT8c.645C>G (p.Phe215Leu)
2g.73640984G>TCA347286124NAT8c.645C>A (p.Phe215Leu)
2g.73640985A>CCA347286130NAT8c.644T>G (p.Phe215Cys)
2g.73640985A>GCA347286133NAT8c.644T>C (p.Phe215Ser)
2g.73640985A>TCA347286136NAT8c.644T>A (p.Phe215Tyr)
2g.73640986A>CCA347286146NAT8c.643T>G (p.Phe215Val)
gnomAD v4
2g.73640986A>GCA347286143NAT8c.643T>C (p.Phe215Leu)
2g.73640986A>TCA347286140NAT8c.643T>A (p.Phe215Ile)
2g.73640987A>CCA347286150NAT8c.642T>G (p.His214Gln)
2g.73640987A>GCA427024290NAT8c.642T>C (p.His214=)
2g.73640987A>TCA347286152NAT8c.642T>A (p.His214Gln)
2g.73640988T>ACA347286155NAT8c.641A>T (p.His214Leu)
2g.73640988T>CCA1715639NAT8c.641A>G (p.His214Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73640988T>GCA347286160NAT8c.641A>C (p.His214Pro)
2g.73640988T=CA1261057100NAT8c.641A= (p.His214=)
2g.73640989G>ACA1715640NAT8c.640C>T (p.His214Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73640989G>CCA347286166NAT8c.640C>G (p.His214Asp)
2g.73640989G=CA1261057101NAT8c.640C= (p.His214=)
2g.73640989G>TCA347286170NAT8c.640C>A (p.His214Asn)
dbSNP gnomAD v4
2g.73640990A>CCA427024294NAT8c.639T>G (p.Val213=)
2g.73640990A>GCA427024296NAT8c.639T>C (p.Val213=)
2g.73640990A>TCA427024295NAT8c.639T>A (p.Val213=)
2g.73640991A=CA1261057102NAT8c.638T= (p.Val213=)
2g.73640991A>CCA347286174NAT8c.638T>G (p.Val213Gly)
2g.73640991A>GCA347286177NAT8c.638T>C (p.Val213Ala)
dbSNP gnomAD v4
2g.73640991A>TCA347286179NAT8c.638T>A (p.Val213Asp)
2g.73640992C>ACA347286184NAT8c.637G>T (p.Val213Phe)
2g.73640992C>GCA347286187NAT8c.637G>C (p.Val213Leu)
2g.73640992C>TCA347286191NAT8c.637G>A (p.Val213Ile)
2g.73640993T>ACA427024301NAT8c.636A>T (p.Thr212=)
2g.73640993T>CCA427024302NAT8c.636A>G (p.Thr212=)
2g.73640993T>GCA427024303NAT8c.636A>C (p.Thr212=)
2g.73640994G>ACA347286200NAT8c.635C>T (p.Thr212Ile)
gnomAD v4
2g.73640994G>CCA347286198NAT8c.635C>G (p.Thr212Arg)
2g.73640994G=CA1261057103NAT8c.635C= (p.Thr212=)
2g.73640994G>TCA347286195NAT8c.635C>A (p.Thr212Lys)
2g.73640995T>ACA347286211NAT8c.634A>T (p.Thr212Ser)
2g.73640995T>CCA347286214NAT8c.634A>G (p.Thr212Ala)
2g.73640995T>GCA347286217NAT8c.634A>C (p.Thr212Pro)
2g.73640995dupCA1715641NAT8c.634dup (p.Thr212AsnfsTer12)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73640996A=CA1261057104NAT8c.633T= (p.His211=)
2g.73640996A>CCA347286219NAT8c.633T>G (p.His211Gln)
2g.73640996A>GCA427024308NAT8c.633T>C (p.His211=)
gnomAD v4
2g.73640996A>TCA347286221NAT8c.633T>A (p.His211Gln)
gnomAD v4
2g.73640997T>ACA347286224NAT8c.632A>T (p.His211Leu)
2g.73640997T>CCA347286228NAT8c.632A>G (p.His211Arg)
2g.73640997T>GCA347286231NAT8c.632A>C (p.His211Pro)
2g.73640997dupCA50370914NAT8c.632dup (p.His211GlnfsTer13)
dbSNP
2g.73640998G>ACA347286234NAT8c.631C>T (p.His211Tyr)
2g.73640998G>CCA347286235NAT8c.631C>G (p.His211Asp)
gnomAD v4
2g.73640998G>TCA347286240NAT8c.631C>A (p.His211Asn)
2g.73640999A>CCA427024321NAT8c.630T>G (p.Leu210=)
2g.73640999A>GCA427024320NAT8c.630T>C (p.Leu210=)
2g.73640999A>TCA427024319NAT8c.630T>A (p.Leu210=)
2g.73641000A=CA1261057105NAT8c.629T= (p.Leu210=)
2g.73641000A>CCA347286250NAT8c.629T>G (p.Leu210Arg)
2g.73641000A>GCA347286247NAT8c.629T>C (p.Leu210Pro)
dbSNP
2g.73641000A>TCA347286244NAT8c.629T>A (p.Leu210His)
2g.73641001G>ACA347286254NAT8c.628C>T (p.Leu210Phe)
2g.73641001G>CCA347286257NAT8c.628C>G (p.Leu210Val)
2g.73641001G>TCA347286261NAT8c.628C>A (p.Leu210Ile)
2g.73641002A>CCA427024324NAT8c.627T>G (p.Ala209=)
2g.73641002A>GCA427024326NAT8c.627T>C (p.Ala209=)
2g.73641002A>TCA427024327NAT8c.627T>A (p.Ala209=)
2g.73641003G>ACA347286262NAT8c.626C>T (p.Ala209Val)
2g.73641003G>CCA347286264NAT8c.626C>G (p.Ala209Gly)
2g.73641003G=CA1261057106NAT8c.626C= (p.Ala209=)
2g.73641003G>TCA50370919NAT8c.626C>A (p.Ala209Asp)
dbSNP gnomAD v3 gnomAD v4
2g.73641004C>ACA347286266NAT8c.625G>T (p.Ala209Ser)
2g.73641004C>GCA347286268NAT8c.625G>C (p.Ala209Pro)
2g.73641004C>TCA347286270NAT8c.625G>A (p.Ala209Thr)
gnomAD v4
2g.73641005C>ACA427024329NAT8c.624G>T (p.Val208=)
2g.73641005C=CA1261057107NAT8c.624G= (p.Val208=)
2g.73641005C>GCA1715642NAT8c.624G>C (p.Val208=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73641005C>TCA427024331NAT8c.624G>A (p.Val208=)
dbSNP gnomAD v2 gnomAD v4
2g.73641006A>CCA347286273NAT8c.623T>G (p.Val208Gly)
2g.73641006A>GCA347286275NAT8c.623T>C (p.Val208Ala)
2g.73641006A>TCA347286276NAT8c.623T>A (p.Val208Glu)
2g.73641007C>ACA347286280NAT8c.622G>T (p.Val208Leu)
2g.73641007C=CA1261057108NAT8c.622G= (p.Val208=)
2g.73641007C>GCA1715644NAT8c.622G>C (p.Val208Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73641007C>TCA1715643NAT8c.622G>A (p.Val208Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73641008T>ACA427024333NAT8c.621A>T (p.Leu207=)
2g.73641008T>CCA50370925NAT8c.621A>G (p.Leu207=)
dbSNP gnomAD v3 gnomAD v4
2g.73641008T>GCA427024334NAT8c.621A>C (p.Leu207=)
2g.73641008T=CA1261057109NAT8c.621A= (p.Leu207=)
2g.73641009A=CA1261057110NAT8c.620T= (p.Leu207=)
2g.73641009A>CCA347286284NAT8c.620T>G (p.Leu207Arg)
2g.73641009A>GCA347286289NAT8c.620T>C (p.Leu207Pro)
2g.73641009A>TCA1715645NAT8c.620T>A (p.Leu207Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73641010G>ACA427024338NAT8c.619C>T (p.Leu207=)
dbSNP gnomAD v4
2g.73641010G>CCA347286294NAT8c.619C>G (p.Leu207Val)
2g.73641010G=CA1261057111NAT8c.619C= (p.Leu207=)
2g.73641010G>TCA347286296NAT8c.619C>A (p.Leu207Ile)
2g.73641011C>ACA347286300NAT8c.618G>T (p.Arg206Ser)
2g.73641011C=CA1261057112NAT8c.618G= (p.Arg206=)
2g.73641011C>GCA347286303NAT8c.618G>C (p.Arg206Ser)
gnomAD v4
2g.73641011C>TCA1715646NAT8c.618G>A (p.Arg206=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73641012C>ACA347286309NAT8c.617G>T (p.Arg206Met)
dbSNP gnomAD v3 gnomAD v4
2g.73641012C=CA1261057113NAT8c.617G= (p.Arg206=)
2g.73641012C>GCA347286311NAT8c.617G>C (p.Arg206Thr)
gnomAD v4
2g.73641012C>TCA347286314NAT8c.617G>A (p.Arg206Lys)
dbSNP
2g.73641019_73641041dupCA2659622943NAT8c.595_617dup (p.Arg206SerfsTer10)
gnomAD v4
2g.73641013T>ACA347286319NAT8c.616A>T (p.Arg206Trp)
2g.73641013T>CCA347286323NAT8c.616A>G (p.Arg206Gly)
gnomAD v4
2g.73641013T>GCA427024343NAT8c.616A>C (p.Arg206=)
dbSNP
2g.73641013T=CA1261057114NAT8c.616A= (p.Arg206=)
2g.73641014G>ACA427024345NAT8c.615C>T (p.Ala205=)
2g.73641014G>CCA427024346NAT8c.615C>G (p.Ala205=)
2g.73641014G=CA1261057115NAT8c.615C= (p.Ala205=)
2g.73641014G>TCA427024347NAT8c.615C>A (p.Ala205=)
dbSNP gnomAD v2 gnomAD v4
2g.73641015G>ACA50370945NAT8c.614C>T (p.Ala205Val)
dbSNP
2g.73641015G>CCA1715647NAT8c.614C>G (p.Ala205Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73641015G=CA1261057116NAT8c.614C= (p.Ala205=)
2g.73641015G>TCA347286327NAT8c.614C>A (p.Ala205Asp)
2g.73641016C>ACA347286333NAT8c.613G>T (p.Ala205Ser)
2g.73641016C>GCA347286338NAT8c.613G>C (p.Ala205Pro)
2g.73641016C>TCA347286335NAT8c.613G>A (p.Ala205Thr)
2g.73641017C>ACA347286343NAT8c.612G>T (p.Trp204Cys)
2g.73641017C>GCA347286345NAT8c.612G>C (p.Trp204Cys)
2g.73641017C>TCA347286348NAT8c.612G>A (p.Trp204Ter)
2g.73641018C>ACA347286360NAT8c.611G>T (p.Trp204Leu)
2g.73641018C>GCA347286363NAT8c.611G>C (p.Trp204Ser)
2g.73641018C>TCA347286366NAT8c.611G>A (p.Trp204Ter)
gnomAD v4
2g.73641024_73641025delCA2659622944NAT8c.610_611del (p.Trp204GlyfsTer19)
gnomAD v4
2g.73641019A=CA1261057117NAT8c.610T= (p.Trp204=)
2g.73641019A>CCA1715648NAT8c.610T>G (p.Trp204Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73641019A>GCA347286371NAT8c.610T>C (p.Trp204Arg)
2g.73641019A>TCA347286375NAT8c.610T>A (p.Trp204Arg)
2g.73641020C>ACA427024359NAT8c.609G>T (p.Val203=)
gnomAD v4
2g.73641020C=CA1261057118NAT8c.609G= (p.Val203=)
2g.73641020C>GCA1715649NAT8c.609G>C (p.Val203=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73641020C>TCA427024360NAT8c.609G>A (p.Val203=)
2g.73641021A>CCA347286382NAT8c.608T>G (p.Val203Gly)
2g.73641021A>GCA347286385NAT8c.608T>C (p.Val203Ala)
gnomAD v4
2g.73641021A>TCA347286387NAT8c.608T>A (p.Val203Glu)
2g.73641022C>ACA347286392NAT8c.607G>T (p.Val203Leu)
2g.73641022C>GCA347286399NAT8c.607G>C (p.Val203Leu)
2g.73641022C>TCA347286395NAT8c.607G>A (p.Val203Met)
gnomAD v4
2g.73641023A=CA1261057119NAT8c.606T= (p.Cys202=)
2g.73641023A>CCA1715650NAT8c.606T>G (p.Cys202Trp)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73641023A>GCA1715651NAT8c.606T>C (p.Cys202=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73641023A>TCA347286405NAT8c.606T>A (p.Cys202Ter)
2g.73641024C>ACA347286408NAT8c.605G>T (p.Cys202Phe)
2g.73641024C=CA1261057120NAT8c.605G= (p.Cys202=)
2g.73641024C>GCA347286413NAT8c.605G>C (p.Cys202Ser)
2g.73641024C>TCA1715653NAT8c.605G>A (p.Cys202Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73641024_73641027delinsCAGACA1261057121NAT8c.602_605delinsTCTG (p.Phe201=)
2g.73641025A=CA1261057122NAT8c.604T= (p.Cys202=)
2g.73641025A>CCA347286418NAT8c.604T>G (p.Cys202Gly)
dbSNP gnomAD v2 gnomAD v4
2g.73641025A>GCA1715654NAT8c.604T>C (p.Cys202Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73641025A>TCA347286423NAT8c.604T>A (p.Cys202Ser)
2g.73641026_73641027delCA2659622945NAT8c.603_604del (p.Phe201LeufsTer22)
gnomAD v4
2g.73641030_73641032delCA1715652NAT8c.602_604del (p.Phe201del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73641026G>ACA427024372NAT8c.603C>T (p.Phe201=)
gnomAD v4
2g.73641026G>CCA1715655NAT8c.603C>G (p.Phe201Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73641026G=CA1261057123NAT8c.603C= (p.Phe201=)
2g.73641026G>TCA347286431NAT8c.603C>A (p.Phe201Leu)
2g.73641027A=CA1261057124NAT8c.602T= (p.Phe201=)
2g.73641027A>CCA347286435NAT8c.602T>G (p.Phe201Cys)
dbSNP gnomAD v3 gnomAD v4
2g.73641027A>GCA347286439NAT8c.602T>C (p.Phe201Ser)
2g.73641027A>TCA347286443NAT8c.602T>A (p.Phe201Tyr)
2g.73641028A>CCA347286447NAT8c.601T>G (p.Phe201Val)
2g.73641028A>GCA347286450NAT8c.601T>C (p.Phe201Leu)
gnomAD v4
2g.73641028A>TCA347286453NAT8c.601T>A (p.Phe201Ile)
2g.73641029G>ACA427024377NAT8c.600C>T (p.Phe200=)
gnomAD v4
2g.73641029G>CCA347286458NAT8c.600C>G (p.Phe200Leu)
2g.73641029G>TCA347286456NAT8c.600C>A (p.Phe200Leu)
gnomAD v4
2g.73641029_73641030insTCA2659622946NAT8c.599_600insA (p.Phe200LeufsTer24)
gnomAD v4
2g.73641030A=CA1261057125NAT8c.599T= (p.Phe200=)
2g.73641030A>CCA347286463NAT8c.599T>G (p.Phe200Cys)
2g.73641030A>GCA347286465NAT8c.599T>C (p.Phe200Ser)
dbSNP gnomAD v3 gnomAD v4
2g.73641030A>TCA347286468NAT8c.599T>A (p.Phe200Tyr)
2g.73641031A>CCA347286471NAT8c.598T>G (p.Phe200Val)
2g.73641031A>GCA347286476NAT8c.598T>C (p.Phe200Leu)
COSMIC
2g.73641031A>TCA347286480NAT8c.598T>A (p.Phe200Ile)
2g.73641032G>ACA427024382NAT8c.597C>T (p.Ser199=)
2g.73641032G>CCA427024384NAT8c.597C>G (p.Ser199=)
2g.73641032G>TCA427024387NAT8c.597C>A (p.Ser199=)
2g.73641033G>ACA347286484NAT8c.596C>T (p.Ser199Phe)
2g.73641033G>CCA347286488NAT8c.596C>G (p.Ser199Cys)
dbSNP gnomAD v2 gnomAD v4
2g.73641033G=CA1261057126NAT8c.596C= (p.Ser199=)
2g.73641033G>TCA1715656NAT8c.596C>A (p.Ser199Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73641034A>CCA347286491NAT8c.595T>G (p.Ser199Ala)
2g.73641034A>GCA347286494NAT8c.595T>C (p.Ser199Pro)
2g.73641034A>TCA347286497NAT8c.595T>A (p.Ser199Thr)
2g.73641035C>ACA347286500NAT8c.594G>T (p.Gln198His)
2g.73641035C=CA1261057127NAT8c.594G= (p.Gln198=)
2g.73641035C>GCA347286503NAT8c.594G>C (p.Gln198His)
dbSNP gnomAD v4
2g.73641035C>TCA427024394NAT8c.594G>A (p.Gln198=)
dbSNP gnomAD v2 gnomAD v4
2g.73641036T>ACA347286508NAT8c.593A>T (p.Gln198Leu)
2g.73641036T>CCA347286510NAT8c.593A>G (p.Gln198Arg)
2g.73641036T>GCA347286514NAT8c.593A>C (p.Gln198Pro)
2g.73641037G>ACA347286517NAT8c.592C>T (p.Gln198Ter)
gnomAD v4
2g.73641037G>CCA347286525NAT8c.592C>G (p.Gln198Glu)
2g.73641037G>TCA347286527NAT8c.592C>A (p.Gln198Lys)
2g.73641038G>ACA427024412NAT8c.591C>T (p.Gly197=)
2g.73641038G>CCA427024414NAT8c.591C>G (p.Gly197=)
2g.73641038G>TCA427024415NAT8c.591C>A (p.Gly197=)
dbSNP
2g.73641039C>ACA347286535NAT8c.590G>T (p.Gly197Val)
2g.73641039C>GCA347286531NAT8c.590G>C (p.Gly197Ala)
2g.73641039C>TCA347286530NAT8c.590G>A (p.Gly197Asp)
2g.73641040C>ACA347286543NAT8c.589G>T (p.Gly197Cys)
2g.73641040C=CA1261057128NAT8c.589G= (p.Gly197=)
2g.73641040C>GCA347286539NAT8c.589G>C (p.Gly197Arg)
2g.73641040C>TCA50370988NAT8c.589G>A (p.Gly197Ser)
dbSNP
2g.73641041C>ACA427024433NAT8c.588G>T (p.Thr196=)
gnomAD v4
2g.73641041C=CA1261057129NAT8c.588G= (p.Thr196=)
2g.73641041C>GCA427024432NAT8c.588G>C (p.Thr196=)
dbSNP
2g.73641041C>TCA1715657NAT8c.588G>A (p.Thr196=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73641042G>ACA1715658NAT8c.587C>T (p.Thr196Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73641042G>CCA347286553NAT8c.587C>G (p.Thr196Arg)
2g.73641042G=CA1261057130NAT8c.587C= (p.Thr196=)
2g.73641042G>TCA347286554NAT8c.587C>A (p.Thr196Lys)
2g.73641043T>ACA347286558NAT8c.586A>T (p.Thr196Ser)
2g.73641043T>CCA347286560NAT8c.586A>G (p.Thr196Ala)
2g.73641043T>GCA347286563NAT8c.586A>C (p.Thr196Pro)
gnomAD v4
2g.73641044C>ACA347286565NAT8c.585G>T (p.Lys195Asn)
2g.73641044C=CA1261057131NAT8c.585G= (p.Lys195=)
2g.73641044C>GCA347286568NAT8c.585G>C (p.Lys195Asn)
ClinVar COSMIC
2g.73641044C>TCA427024447NAT8c.585G>A (p.Lys195=)
dbSNP
2g.73641045T>ACA347286572NAT8c.584A>T (p.Lys195Met)
2g.73641045T>CCA347286575NAT8c.584A>G (p.Lys195Arg)
2g.73641045T>GCA347286579NAT8c.584A>C (p.Lys195Thr)
COSMIC
2g.73641046T>ACA347286586NAT8c.583A>T (p.Lys195Ter)
2g.73641046T>CCA347286589NAT8c.583A>G (p.Lys195Glu)
dbSNP gnomAD v2
2g.73641046T>GCA347286583NAT8c.583A>C (p.Lys195Gln)
2g.73641046T=CA1261057132NAT8c.583A= (p.Lys195=)
2g.73641047C>ACA347286592NAT8c.582G>T (p.Lys194Asn)
2g.73641047C>GCA347286596NAT8c.582G>C (p.Lys194Asn)
gnomAD v4
2g.73641047C>TCA427024453NAT8c.582G>A (p.Lys194=)
2g.73641048T>ACA347286599NAT8c.581A>T (p.Lys194Met)
2g.73641048T>CCA347286602NAT8c.581A>G (p.Lys194Arg)
gnomAD v4
2g.73641048T>GCA347286605NAT8c.581A>C (p.Lys194Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.73641048T=CA1261057133NAT8c.581A= (p.Lys194=)
2g.73641049T>ACA347286615NAT8c.580A>T (p.Lys194Ter)
2g.73641049T>CCA347286608NAT8c.580A>G (p.Lys194Glu)
gnomAD v4
2g.73641049T>GCA347286612NAT8c.580A>C (p.Lys194Gln)
2g.73641050G>ACA427024459NAT8c.579C>T (p.Phe193=)
2g.73641050G>CCA347286618NAT8c.579C>G (p.Phe193Leu)
2g.73641050G>TCA347286620NAT8c.579C>A (p.Phe193Leu)
2g.73641051A>CCA347286627NAT8c.578T>G (p.Phe193Cys)
2g.73641051A>GCA347286628NAT8c.578T>C (p.Phe193Ser)
2g.73641051A>TCA347286630NAT8c.578T>A (p.Phe193Tyr)
2g.73641052A>CCA347286640NAT8c.577T>G (p.Phe193Val)
2g.73641052A>GCA347286638NAT8c.577T>C (p.Phe193Leu)
2g.73641052A>TCA347286635NAT8c.577T>A (p.Phe193Ile)
2g.73641053G>ACA427024468NAT8c.576C>T (p.Gly192=)
2g.73641053G>CCA427024470NAT8c.576C>G (p.Gly192=)
2g.73641053G>TCA427024472NAT8c.576C>A (p.Gly192=)
2g.73641054C>ACA347286645NAT8c.575G>T (p.Gly192Val)
dbSNP
2g.73641054C=CA1261057134NAT8c.575G= (p.Gly192=)
2g.73641054C>GCA347286647NAT8c.575G>C (p.Gly192Ala)
gnomAD v4
2g.73641054C>TCA347286650NAT8c.575G>A (p.Gly192Asp)
2g.73641055C>ACA347286655NAT8c.574G>T (p.Gly192Cys)
2g.73641055C>GCA347286658NAT8c.574G>C (p.Gly192Arg)
2g.73641055C>TCA347286661NAT8c.574G>A (p.Gly192Ser)
2g.73641056C>ACA347286664NAT8c.573G>T (p.Met191Ile)
2g.73641056C>GCA347286668NAT8c.573G>C (p.Met191Ile)
2g.73641056C>TCA347286671NAT8c.573G>A (p.Met191Ile)
gnomAD v4
2g.73641057A=CA1261057135NAT8c.572T= (p.Met191=)
2g.73641057A>CCA347286674NAT8c.572T>G (p.Met191Arg)
dbSNP gnomAD v3 gnomAD v4
2g.73641057A>GCA1715659NAT8c.572T>C (p.Met191Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73641057A>TCA347286679NAT8c.572T>A (p.Met191Lys)
2g.73641058T>ACA1715660NAT8c.571A>T (p.Met191Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73641058T>CCA347286689NAT8c.571A>G (p.Met191Val)
2g.73641058T>GCA347286683NAT8c.571A>C (p.Met191Leu)
2g.73641058T=CA1261057136NAT8c.571A= (p.Met191=)
2g.73641059G>ACA1715661NAT8c.570C>T (p.Ser190=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.73641059G>CCA347286693NAT8c.570C>G (p.Ser190Arg)
2g.73641059G=CA1261057137NAT8c.570C= (p.Ser190=)
2g.73641059G>TCA1715662NAT8c.570C>A (p.Ser190Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73641060C>ACA347286698NAT8c.569G>T (p.Ser190Ile)
2g.73641060C>GCA347286702NAT8c.569G>C (p.Ser190Thr)
2g.73641060C>TCA347286705NAT8c.569G>A (p.Ser190Asn)
2g.73641061T>ACA347286708NAT8c.568A>T (p.Ser190Cys)
2g.73641061T>CCA347286713NAT8c.568A>G (p.Ser190Gly)
2g.73641061T>GCA347286710NAT8c.568A>C (p.Ser190Arg)
2g.73641062C>ACA347286716NAT8c.567G>T (p.Gln189His)
2g.73641062C=CA1261057138NAT8c.567G= (p.Gln189=)
2g.73641062C>GCA347286719NAT8c.567G>C (p.Gln189His)
gnomAD v4
2g.73641062C>TCA427024491NAT8c.567G>A (p.Gln189=)
dbSNP gnomAD v2 gnomAD v4
2g.73641063T>ACA347286722NAT8c.566A>T (p.Gln189Leu)
2g.73641063T>CCA347286725NAT8c.566A>G (p.Gln189Arg)
2g.73641063T>GCA347286728NAT8c.566A>C (p.Gln189Pro)
2g.73641064G>ACA347286733NAT8c.565C>T (p.Gln189Ter)
gnomAD v4
2g.73641064G>CCA347286735NAT8c.565C>G (p.Gln189Glu)
dbSNP gnomAD v3 gnomAD v4
2g.73641064G=CA1261057139NAT8c.565C= (p.Gln189=)
2g.73641064G>TCA347286731NAT8c.565C>A (p.Gln189Lys)
2g.73641065G>ACA427024499NAT8c.564C>T (p.Tyr188=)
gnomAD v4
2g.73641065G>CCA347286744NAT8c.564C>G (p.Tyr188Ter)
2g.73641065G=CA1261057140NAT8c.564C= (p.Tyr188=)
2g.73641065G>TCA347286746NAT8c.564C>A (p.Tyr188Ter)
dbSNP
2g.73641066T>ACA347286749NAT8c.563A>T (p.Tyr188Phe)
2g.73641066T>CCA347286758NAT8c.563A>G (p.Tyr188Cys)
2g.73641066T>GCA347286761NAT8c.563A>C (p.Tyr188Ser)
2g.73641067A>CCA347286766NAT8c.562T>G (p.Tyr188Asp)
2g.73641067A>GCA347286769NAT8c.562T>C (p.Tyr188His)
2g.73641067A>TCA347286772NAT8c.562T>A (p.Tyr188Asn)
2g.73641068G>ACA427024510NAT8c.561C>T (p.Leu187=)
2g.73641068G>CCA427024509NAT8c.561C>G (p.Leu187=)
2g.73641068G=CA1261057141NAT8c.561C= (p.Leu187=)
2g.73641068G>TCA427024505NAT8c.561C>A (p.Leu187=)
dbSNP gnomAD v2 gnomAD v4
2g.73641069A>CCA347286782NAT8c.560T>G (p.Leu187Arg)
2g.73641069A>GCA347286779NAT8c.560T>C (p.Leu187Pro)
2g.73641069A>TCA347286777NAT8c.560T>A (p.Leu187His)
2g.73641070G>ACA347286786NAT8c.559C>T (p.Leu187Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.73641070G>CCA1715663NAT8c.559C>G (p.Leu187Val)
dbSNP ExAC
2g.73641070G=CA1261057142NAT8c.559C= (p.Leu187=)
2g.73641070G>TCA347286791NAT8c.559C>A (p.Leu187Ile)
2g.73641071G>ACA427024513NAT8c.558C>T (p.Ala186=)
2g.73641071G>CCA427024514NAT8c.558C>G (p.Ala186=)
2g.73641071G>TCA427024516NAT8c.558C>A (p.Ala186=)
2g.73641072G>ACA347286793NAT8c.557C>T (p.Ala186Val)
gnomAD v4
2g.73641072G>CCA50371054NAT8c.557C>G (p.Ala186Gly)
dbSNP gnomAD v4
2g.73641072G=CA1261057143NAT8c.557C= (p.Ala186=)
2g.73641072G>TCA347286799NAT8c.557C>A (p.Ala186Asp)
gnomAD v4
2g.73641073C>ACA347286804NAT8c.556G>T (p.Ala186Ser)
2g.73641073C>GCA347286809NAT8c.556G>C (p.Ala186Pro)
2g.73641073C>TCA347286806NAT8c.556G>A (p.Ala186Thr)
2g.73641074dupCA892867186NAT8c.556dup (p.Ala186GlyfsTer?)
dbSNP
2g.73641074C>ACA347286812NAT8c.555G>T (p.Met185Ile)
2g.73641074C=CA1261057144NAT8c.555G= (p.Met185=)
2g.73641074C>GCA347286815NAT8c.555G>C (p.Met185Ile)
2g.73641074C>TCA1715664NAT8c.555G>A (p.Met185Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.73641075A>CCA347286822NAT8c.554T>G (p.Met185Arg)
2g.73641075A>GCA347286824NAT8c.554T>C (p.Met185Thr)
gnomAD v4
2g.73641075A>TCA347286827NAT8c.554T>A (p.Met185Lys)
2g.73641076T>ACA347286831NAT8c.553A>T (p.Met185Leu)
2g.73641076T>CCA347286836NAT8c.553A>G (p.Met185Val)
2g.73641076T>GCA347286837NAT8c.553A>C (p.Met185Leu)
2g.73641077A>CCA427024525NAT8c.552T>G (p.Ala184=)
2g.73641077A>GCA427024526NAT8c.552T>C (p.Ala184=)
gnomAD v4
2g.73641077A>TCA427024529NAT8c.552T>A (p.Ala184=)
2g.73641078G>ACA347286842NAT8c.551C>T (p.Ala184Val)
COSMIC
2g.73641078G>CCA347286844NAT8c.551C>G (p.Ala184Gly)
2g.73641078G>TCA347286848NAT8c.551C>A (p.Ala184Asp)

Number of alleles fetched