Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154896152A>CCA519352684F8c.6354T>G (p.Ser2118=)
c.6249T>G (p.Ser2083=)
Xg.154896152A>GCA519352686F8c.6354T>C (p.Ser2118=)
c.6249T>C (p.Ser2083=)
Xg.154896152A>TCA519352688F8c.6354T>A (p.Ser2118=)
c.6249T>A (p.Ser2083=)
Xg.154896153G>ACA414899781F8c.6353C>T (p.Ser2118Phe)
c.6248C>T (p.Ser2083Phe)
Xg.154896153G>CCA414899785F8c.6353C>G (p.Ser2118Cys)
c.6248C>G (p.Ser2083Cys)
Xg.154896153G>TCA414899789F8c.6353C>A (p.Ser2118Tyr)
c.6248C>A (p.Ser2083Tyr)
Xg.154896154A>CCA414899799F8c.6352T>G (p.Ser2118Ala)
c.6247T>G (p.Ser2083Ala)
Xg.154896154A>GCA414899798F8c.6352T>C (p.Ser2118Pro)
c.6247T>C (p.Ser2083Pro)
Xg.154896154A>TCA414899797F8c.6352T>A (p.Ser2118Thr)
c.6247T>A (p.Ser2083Thr)
Xg.154896155G>ACA519352699F8c.6351C>T (p.Ile2117=)
c.6246C>T (p.Ile2082=)
Xg.154896155G>CCA414899801F8c.6351C>G (p.Ile2117Met)
c.6246C>G (p.Ile2082Met)
Xg.154896155G>TCA519352702F8c.6351C>A (p.Ile2117=)
c.6246C>A (p.Ile2082=)
 gnomAD v4
Xg.154896156A>CCA414899803F8c.6350T>G (p.Ile2117Ser)
c.6245T>G (p.Ile2082Ser)
Xg.154896156A>GCA414899805F8c.6350T>C (p.Ile2117Thr)
c.6245T>C (p.Ile2082Thr)
Xg.154896156A>TCA414899808F8c.6350T>A (p.Ile2117Asn)
c.6245T>A (p.Ile2082Asn)
Xg.154896157T>ACA414899811F8c.6349A>T (p.Ile2117Phe)
c.6244A>T (p.Ile2082Phe)
 dbSNP
Xg.154896157T>CCA414899813F8c.6349A>G (p.Ile2117Val)
c.6244A>G (p.Ile2082Val)
 gnomAD v4
Xg.154896157T>GCA414899822F8c.6349A>C (p.Ile2117Leu)
c.6244A>C (p.Ile2082Leu)
Xg.154896157T=CA2466826022F8c.6349A= (p.Ile2117=)
c.6244A= (p.Ile2082=)
Xg.154896158G>ACA519352714F8c.6348C>T (p.Tyr2116=)
c.6243C>T (p.Tyr2081=)
 gnomAD v4
Xg.154896158G>CCA414899824F8c.6348C>G (p.Tyr2116Ter)
c.6243C>G (p.Tyr2081Ter)
Xg.154896158G>TCA414899825F8c.6348C>A (p.Tyr2116Ter)
c.6243C>A (p.Tyr2081Ter)
Xg.154896159T>ACA414899826F8c.6347A>T (p.Tyr2116Phe)
c.6242A>T (p.Tyr2081Phe)
Xg.154896159T>CCA414899827F8c.6347A>G (p.Tyr2116Cys)
c.6242A>G (p.Tyr2081Cys)
Xg.154896159T>GCA414899830F8c.6347A>C (p.Tyr2116Ser)
c.6242A>C (p.Tyr2081Ser)
Xg.154896160A=CA2466826023F8c.6346T= (p.Tyr2116=)
c.6241T= (p.Tyr2081=)
Xg.154896160A>CCA414899845F8c.6346T>G (p.Tyr2116Asp)
c.6241T>G (p.Tyr2081Asp)
Xg.154896160A>GCA337315893F8c.6346T>C (p.Tyr2116His)
c.6241T>C (p.Tyr2081His)
 ClinVar dbSNP
Xg.154896160A>TCA414899840F8c.6346T>A (p.Tyr2116Asn)
c.6241T>A (p.Tyr2081Asn)
Xg.154896161G>ACA519352729F8c.6345C>T (p.Leu2115=)
c.6240C>T (p.Leu2080=)
Xg.154896161G>CCA519352731F8c.6345C>G (p.Leu2115=)
c.6240C>G (p.Leu2080=)
Xg.154896161G>TCA519352733F8c.6345C>A (p.Leu2115=)
c.6240C>A (p.Leu2080=)
Xg.154896162delCA2695237826F8c.6344del (p.Leu2115ProfsTer28)
c.6239del (p.Leu2080ProfsTer28)
Xg.154896162A>CCA414899850F8c.6344T>G (p.Leu2115Arg)
c.6239T>G (p.Leu2080Arg)
Xg.154896162A>GCA414899862F8c.6344T>C (p.Leu2115Pro)
c.6239T>C (p.Leu2080Pro)
Xg.154896162A>TCA414899860F8c.6344T>A (p.Leu2115His)
c.6239T>A (p.Leu2080His)
Xg.154896163G>ACA414899868F8c.6343C>T (p.Leu2115Phe)
c.6238C>T (p.Leu2080Phe)
Xg.154896163G>CCA414899869F8c.6343C>G (p.Leu2115Val)
c.6238C>G (p.Leu2080Val)
Xg.154896163G>TCA414899872F8c.6343C>A (p.Leu2115Ile)
c.6238C>A (p.Leu2080Ile)
Xg.154896164delCA2695237827F8c.6343del (p.Leu2115SerfsTer28)
c.6238del (p.Leu2080SerfsTer28)
Xg.154896164G>ACA519352745F8c.6342C>T (p.Ser2114=)
c.6237C>T (p.Ser2079=)
Xg.154896164G>CCA414899874F8c.6342C>G (p.Ser2114Arg)
c.6237C>G (p.Ser2079Arg)
Xg.154896164G>TCA414899878F8c.6342C>A (p.Ser2114Arg)
c.6237C>A (p.Ser2079Arg)
 gnomAD v4
Xg.154896165C>ACA414899883F8c.6341G>T (p.Ser2114Ile)
c.6236G>T (p.Ser2079Ile)
Xg.154896165C>GCA414899887F8c.6341G>C (p.Ser2114Thr)
c.6236G>C (p.Ser2079Thr)
Xg.154896165C>TCA414899896F8c.6341G>A (p.Ser2114Asn)
c.6236G>A (p.Ser2079Asn)
Xg.154896166T>ACA414899900F8c.6340A>T (p.Ser2114Cys)
c.6235A>T (p.Ser2079Cys)
Xg.154896166T>CCA414899901F8c.6340A>G (p.Ser2114Gly)
c.6235A>G (p.Ser2079Gly)
Xg.154896166T>GCA414899903F8c.6340A>C (p.Ser2114Arg)
c.6235A>C (p.Ser2079Arg)
Xg.154896167G>ACA519352761F8c.6339C>T (p.Ser2113=)
c.6234C>T (p.Ser2078=)
Xg.154896167G>CCA519352759F8c.6339C>G (p.Ser2113=)
c.6234C>G (p.Ser2078=)
Xg.154896167G>TCA519352757F8c.6339C>A (p.Ser2113=)
c.6234C>A (p.Ser2078=)
Xg.154896168G>ACA414899918F8c.6338C>T (p.Ser2113Phe)
c.6233C>T (p.Ser2078Phe)
Xg.154896168G>CCA414899907F8c.6338C>G (p.Ser2113Cys)
c.6233C>G (p.Ser2078Cys)
Xg.154896168G=CA2466826024F8c.6338C= (p.Ser2113=)
c.6233C= (p.Ser2078=)
Xg.154896168G>TCA337315897F8c.6338C>A (p.Ser2113Tyr)
c.6233C>A (p.Ser2078Tyr)
 dbSNP gnomAD v4
Xg.154896169A=CA2466826025F8c.6337T= (p.Ser2113=)
c.6232T= (p.Ser2078=)
Xg.154896169A>CCA414899924F8c.6337T>G (p.Ser2113Ala)
c.6232T>G (p.Ser2078Ala)
Xg.154896169A>GCA10567867F8c.6337T>C (p.Ser2113Pro)
c.6232T>C (p.Ser2078Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154896169A>TCA414899928F8c.6337T>A (p.Ser2113Thr)
c.6232T>A (p.Ser2078Thr)
Xg.154896170G>ACA519352775F8c.6336C>T (p.Phe2112=)
c.6231C>T (p.Phe2077=)
 dbSNP gnomAD v2 gnomAD v4
Xg.154896170G>CCA414899931F8c.6336C>G (p.Phe2112Leu)
c.6231C>G (p.Phe2077Leu)
Xg.154896170G=CA2466826026F8c.6336C= (p.Phe2112=)
c.6231C= (p.Phe2077=)
Xg.154896170G>TCA414899935F8c.6336C>A (p.Phe2112Leu)
c.6231C>A (p.Phe2077Leu)
 dbSNP gnomAD v4
Xg.154896171A=CA2466826027F8c.6335T= (p.Phe2112=)
c.6230T= (p.Phe2077=)
Xg.154896171A>CCA414899939F8c.6335T>G (p.Phe2112Cys)
c.6230T>G (p.Phe2077Cys)
Xg.154896171A>GCA10567868F8c.6335T>C (p.Phe2112Ser)
c.6230T>C (p.Phe2077Ser)
 dbSNP ExAC gnomAD v2
Xg.154896171A>TCA414899948F8c.6335T>A (p.Phe2112Tyr)
c.6230T>A (p.Phe2077Tyr)
Xg.154896172A>CCA414899953F8c.6334T>G (p.Phe2112Val)
c.6229T>G (p.Phe2077Val)
Xg.154896172A>GCA414899955F8c.6334T>C (p.Phe2112Leu)
c.6229T>C (p.Phe2077Leu)
Xg.154896172A>TCA414899958F8c.6334T>A (p.Phe2112Ile)
c.6229T>A (p.Phe2077Ile)
Xg.154896173C>ACA414899961F8c.6333G>T (p.Lys2111Asn)
c.6228G>T (p.Lys2076Asn)
Xg.154896173C>GCA414899963F8c.6333G>C (p.Lys2111Asn)
c.6228G>C (p.Lys2076Asn)
Xg.154896173C>TCA519352789F8c.6333G>A (p.Lys2111=)
c.6228G>A (p.Lys2076=)
 gnomAD v4
Xg.154896174T>ACA414899967F8c.6332A>T (p.Lys2111Met)
c.6227A>T (p.Lys2076Met)
Xg.154896174T>CCA414899971F8c.6332A>G (p.Lys2111Arg)
c.6227A>G (p.Lys2076Arg)
Xg.154896174T>GCA414899978F8c.6332A>C (p.Lys2111Thr)
c.6227A>C (p.Lys2076Thr)
Xg.154896175T>ACA414899981F8c.6331A>T (p.Lys2111Ter)
c.6226A>T (p.Lys2076Ter)
Xg.154896175T>CCA10567869F8c.6331A>G (p.Lys2111Glu)
c.6226A>G (p.Lys2076Glu)
 dbSNP ExAC gnomAD v2
Xg.154896175T>GCA414899984F8c.6331A>C (p.Lys2111Gln)
c.6226A>C (p.Lys2076Gln)
Xg.154896175T=CA2466826028F8c.6331A= (p.Lys2111=)
c.6226A= (p.Lys2076=)
Xg.154896176C>ACA414899988F8c.6330G>T (p.Gln2110His)
c.6225G>T (p.Gln2075His)
Xg.154896176C>GCA414899993F8c.6330G>C (p.Gln2110His)
c.6225G>C (p.Gln2075His)
Xg.154896176C>TCA519352804F8c.6330G>A (p.Gln2110=)
c.6225G>A (p.Gln2075=)
Xg.154896177T>ACA414899997F8c.6329A>T (p.Gln2110Leu)
c.6224A>T (p.Gln2075Leu)
Xg.154896177T>CCA414900003F8c.6329A>G (p.Gln2110Arg)
c.6224A>G (p.Gln2075Arg)
Xg.154896177T>GCA414900009F8c.6329A>C (p.Gln2110Pro)
c.6224A>C (p.Gln2075Pro)
Xg.154896178G>ACA414900018F8c.6328C>T (p.Gln2110Ter)
c.6223C>T (p.Gln2075Ter)
Xg.154896178G>CCA414900015F8c.6328C>G (p.Gln2110Glu)
c.6223C>G (p.Gln2075Glu)
Xg.154896178G>TCA414900013F8c.6328C>A (p.Gln2110Lys)
c.6223C>A (p.Gln2075Lys)
Xg.154896179A>CCA519352816F8c.6327T>G (p.Arg2109=)
c.6222T>G (p.Arg2074=)
Xg.154896179A>GCA519352818F8c.6327T>C (p.Arg2109=)
c.6222T>C (p.Arg2074=)
Xg.154896179A>TCA519352820F8c.6327T>A (p.Arg2109=)
c.6222T>A (p.Arg2074=)
Xg.154896180delCA2579744400F8c.6326del (p.Arg2109LeufsTer?)
c.6221del (p.Arg2074LeufsTer?)
Xg.154896180C>ACA414900022F8c.6326G>T (p.Arg2109Leu)
c.6221G>T (p.Arg2074Leu)
Xg.154896180C=CA2466826029F8c.6326G= (p.Arg2109=)
c.6221G= (p.Arg2074=)
Xg.154896180C>GCA414900025F8c.6326G>C (p.Arg2109Pro)
c.6221G>C (p.Arg2074Pro)
 ClinVar
Xg.154896180C>TCA10567870F8c.6326G>A (p.Arg2109His)
c.6221G>A (p.Arg2074His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154896180_154896181delCA2695237828F8c.6325_6326del (p.Arg2109SerfsTer16)
c.6220_6221del (p.Arg2074SerfsTer16)
Xg.154896181G>ACA414900031F8c.6325C>T (p.Arg2109Cys)
c.6220C>T (p.Arg2074Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.154896181G>CCA414900035F8c.6325C>G (p.Arg2109Gly)
c.6220C>G (p.Arg2074Gly)
Xg.154896181G=CA2466826030F8c.6325C= (p.Arg2109=)
c.6220C= (p.Arg2074=)
Xg.154896181G>TCA414900036F8c.6325C>A (p.Arg2109Ser)
c.6220C>A (p.Arg2074Ser)
Xg.154896183delCA2695237829F8c.6325del (p.Arg2109ValfsTer?)
c.6220del (p.Arg2074ValfsTer?)
Xg.154896182G>ACA519352833F8c.6324C>T (p.Ala2108=)
c.6219C>T (p.Ala2073=)
Xg.154896182G>CCA519352836F8c.6324C>G (p.Ala2108=)
c.6219C>G (p.Ala2073=)
Xg.154896182G=CA2466826031F8c.6324C= (p.Ala2108=)
c.6219C= (p.Ala2073=)
Xg.154896182G>TCA519352838F8c.6324C>A (p.Ala2108=)
c.6219C>A (p.Ala2073=)
 dbSNP gnomAD v3 gnomAD v4
Xg.154896183G>ACA10567871F8c.6323C>T (p.Ala2108Val)
c.6218C>T (p.Ala2073Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.154896183G>CCA414900045F8c.6323C>G (p.Ala2108Gly)
c.6218C>G (p.Ala2073Gly)
Xg.154896183G=CA2466826032F8c.6323C= (p.Ala2108=)
c.6218C= (p.Ala2073=)
Xg.154896183G>TCA414900046F8c.6323C>A (p.Ala2108Asp)
c.6218C>A (p.Ala2073Asp)
Xg.154896184C>ACA414900047F8c.6322G>T (p.Ala2108Ser)
c.6217G>T (p.Ala2073Ser)
Xg.154896184C>GCA414900048F8c.6322G>C (p.Ala2108Pro)
c.6217G>C (p.Ala2073Pro)
 ClinVar dbSNP
Xg.154896184C>TCA414900050F8c.6322G>A (p.Ala2108Thr)
c.6217G>A (p.Ala2073Thr)
Xg.154896185_154896187delCA2695237830F8c.6320_6322del (p.Gly2107del)
c.6215_6217del (p.Gly2072del)
Xg.154896185delCA2695237831F8c.6321del (p.Ala2108ProfsTer?)
c.6216del (p.Ala2073ProfsTer?)
Xg.154896185A>CCA519352852F8c.6321T>G (p.Gly2107=)
c.6216T>G (p.Gly2072=)
Xg.154896185A>GCA519352854F8c.6321T>C (p.Gly2107=)
c.6216T>C (p.Gly2072=)
Xg.154896185A>TCA519352856F8c.6321T>A (p.Gly2107=)
c.6216T>A (p.Gly2072=)
 gnomAD v4
Xg.154896185_154896186delinsACCA2466826033F8c.6320_6321delinsGT (p.Gly2107=)
c.6215_6216delinsGT (p.Gly2072=)
Xg.154896185_154896186insGTCA2695237832F8c.6320_6321insAC (p.Ala2108LeufsTer?)
c.6215_6216insAC (p.Ala2073LeufsTer?)
Xg.154896186C>ACA414900051F8c.6320G>T (p.Gly2107Val)
c.6215G>T (p.Gly2072Val)
 dbSNP
Xg.154896186C=CA2466826035F8c.6320G= (p.Gly2107=)
c.6215G= (p.Gly2072=)
Xg.154896186C>GCA414900053F8c.6320G>C (p.Gly2107Ala)
c.6215G>C (p.Gly2072Ala)
Xg.154896186C>TCA414900052F8c.6320G>A (p.Gly2107Asp)
c.6215G>A (p.Gly2072Asp)
 ClinVar dbSNP
Xg.154896188delCA2466826034F8c.6320del (p.Gly2107ValfsTer?)
c.6215del (p.Gly2072ValfsTer?)
 dbSNP
Xg.154896187C>ACA414900054F8c.6319G>T (p.Gly2107Cys)
c.6214G>T (p.Gly2072Cys)
Xg.154896187C=CA2466826036F8c.6319G= (p.Gly2107=)
c.6214G= (p.Gly2072=)
Xg.154896187C>GCA414900058F8c.6319G>C (p.Gly2107Arg)
c.6214G>C (p.Gly2072Arg)
Xg.154896187C>TCA414900056F8c.6319G>A (p.Gly2107Ser)
c.6214G>A (p.Gly2072Ser)
 ClinVar dbSNP
Xg.154896188C>ACA414900061F8c.6318G>T (p.Gln2106His)
c.6213G>T (p.Gln2071His)
Xg.154896188C>GCA414900062F8c.6318G>C (p.Gln2106His)
c.6213G>C (p.Gln2071His)
Xg.154896188C>TCA519352870F8c.6318G>A (p.Gln2106=)
c.6213G>A (p.Gln2071=)
Xg.154896189T>ACA414900067F8c.6317A>T (p.Gln2106Leu)
c.6212A>T (p.Gln2071Leu)
Xg.154896189T>CCA414900074F8c.6317A>G (p.Gln2106Arg)
c.6212A>G (p.Gln2071Arg)
 dbSNP gnomAD v4
Xg.154896189T>GCA414900070F8c.6317A>C (p.Gln2106Pro)
c.6212A>C (p.Gln2071Pro)
 dbSNP
Xg.154896189T=CA2466826037F8c.6317A= (p.Gln2106=)
c.6212A= (p.Gln2071=)
Xg.154896190G>ACA414900084F8c.6316C>T (p.Gln2106Ter)
c.6211C>T (p.Gln2071Ter)
 dbSNP
Xg.154896190G>CCA414900091F8c.6316C>G (p.Gln2106Glu)
c.6211C>G (p.Gln2071Glu)
 dbSNP
Xg.154896190G=CA2466826038F8c.6316C= (p.Gln2106=)
c.6211C= (p.Gln2071=)
Xg.154896190G>TCA414900096F8c.6316C>A (p.Gln2106Lys)
c.6211C>A (p.Gln2071Lys)
Xg.154896192delCA2695237833F8c.6316del (p.Gln2106ArgfsTer?)
c.6211del (p.Gln2071ArgfsTer?)
Xg.154896191G>ACA519352885F8c.6315C>T (p.Thr2105=)
c.6210C>T (p.Thr2070=)
Xg.154896191G>CCA519352887F8c.6315C>G (p.Thr2105=)
c.6210C>G (p.Thr2070=)
Xg.154896191G>TCA519352889F8c.6315C>A (p.Thr2105=)
c.6210C>A (p.Thr2070=)
Xg.154896192G>ACA414900100F8c.6314C>T (p.Thr2105Ile)
c.6209C>T (p.Thr2070Ile)
 gnomAD v4
Xg.154896192G>CCA414900103F8c.6314C>G (p.Thr2105Ser)
c.6209C>G (p.Thr2070Ser)
Xg.154896192G>TCA414900106F8c.6314C>A (p.Thr2105Asn)
c.6209C>A (p.Thr2070Asn)
Xg.154896193T>ACA414900108F8c.6313A>T (p.Thr2105Ser)
c.6208A>T (p.Thr2070Ser)
Xg.154896193T>CCA414900111F8c.6313A>G (p.Thr2105Ala)
c.6208A>G (p.Thr2070Ala)
Xg.154896193T>GCA414900114F8c.6313A>C (p.Thr2105Pro)
c.6208A>C (p.Thr2070Pro)
Xg.154896194C>ACA414900117F8c.6312G>T (p.Lys2104Asn)
c.6207G>T (p.Lys2069Asn)
Xg.154896194C>GCA414900116F8c.6312G>C (p.Lys2104Asn)
c.6207G>C (p.Lys2069Asn)
Xg.154896194C>TCA519352906F8c.6312G>A (p.Lys2104=)
c.6207G>A (p.Lys2069=)
Xg.154896194dupCA2695237834F8c.6312dup (p.Thr2105AspfsTer21)
c.6207dup (p.Thr2070AspfsTer21)
Xg.154896195T>ACA414900118F8c.6311A>T (p.Lys2104Met)
c.6206A>T (p.Lys2069Met)
Xg.154896195T>CCA414900120F8c.6311A>G (p.Lys2104Arg)
c.6206A>G (p.Lys2069Arg)
Xg.154896195T>GCA414900121F8c.6311A>C (p.Lys2104Thr)
c.6206A>C (p.Lys2069Thr)
Xg.154896196T>ACA414900126F8c.6310A>T (p.Lys2104Ter)
c.6205A>T (p.Lys2069Ter)
Xg.154896196T>CCA414900137F8c.6310A>G (p.Lys2104Glu)
c.6205A>G (p.Lys2069Glu)
Xg.154896196T>GCA414900139F8c.6310A>C (p.Lys2104Gln)
c.6205A>C (p.Lys2069Gln)
Xg.154896197G>ACA519352920F8c.6309C>T (p.Ile2103=)
c.6204C>T (p.Ile2068=)
Xg.154896197G>CCA414900143F8c.6309C>G (p.Ile2103Met)
c.6204C>G (p.Ile2068Met)
Xg.154896197G>TCA519352923F8c.6309C>A (p.Ile2103=)
c.6204C>A (p.Ile2068=)
Xg.154896198A>CCA414900148F8c.6308T>G (p.Ile2103Ser)
c.6203T>G (p.Ile2068Ser)
Xg.154896198A>GCA414900150F8c.6308T>C (p.Ile2103Thr)
c.6203T>C (p.Ile2068Thr)
Xg.154896198A>TCA414900151F8c.6308T>A (p.Ile2103Asn)
c.6203T>A (p.Ile2068Asn)
Xg.154896199T>ACA414900158F8c.6307A>T (p.Ile2103Phe)
c.6202A>T (p.Ile2068Phe)
Xg.154896199T>CCA10567872F8c.6307A>G (p.Ile2103Val)
c.6202A>G (p.Ile2068Val)
 dbSNP ExAC gnomAD v2
Xg.154896199T>GCA414900155F8c.6307A>C (p.Ile2103Leu)
c.6202A>C (p.Ile2068Leu)
 dbSNP gnomAD v3 gnomAD v4
Xg.154896199T=CA2466826039F8c.6307A= (p.Ile2103=)
c.6202A= (p.Ile2068=)
Xg.154896200G>ACA519352934F8c.6306C>T (p.Gly2102=)
c.6201C>T (p.Gly2067=)
Xg.154896200G>CCA519352939F8c.6306C>G (p.Gly2102=)
c.6201C>G (p.Gly2067=)
Xg.154896200G>TCA519352937F8c.6306C>A (p.Gly2102=)
c.6201C>A (p.Gly2067=)
Xg.154896201C>ACA414900167F8c.6305G>T (p.Gly2102Val)
c.6200G>T (p.Gly2067Val)
Xg.154896201C>GCA414900170F8c.6305G>C (p.Gly2102Ala)
c.6200G>C (p.Gly2067Ala)
Xg.154896201C>TCA414900171F8c.6305G>A (p.Gly2102Asp)
c.6200G>A (p.Gly2067Asp)
 ClinVar dbSNP
Xg.154896202C>ACA414900172F8c.6304G>T (p.Gly2102Cys)
c.6199G>T (p.Gly2067Cys)
Xg.154896202C=CA2466826040F8c.6304G= (p.Gly2102=)
c.6199G= (p.Gly2067=)
Xg.154896202C>GCA414900174F8c.6304G>C (p.Gly2102Arg)
c.6199G>C (p.Gly2067Arg)
Xg.154896202C>TCA10567873F8c.6304G>A (p.Gly2102Ser)
c.6199G>A (p.Gly2067Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154896203G>ACA10567874F8c.6303C>T (p.His2101=)
c.6198C>T (p.His2066=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154896203G>CCA414900184F8c.6303C>G (p.His2101Gln)
c.6198C>G (p.His2066Gln)
Xg.154896203G=CA2466826041F8c.6303C= (p.His2101=)
c.6198C= (p.His2066=)
Xg.154896203G>TCA414900195F8c.6303C>A (p.His2101Gln)
c.6198C>A (p.His2066Gln)
Xg.154896204T>ACA414900201F8c.6302A>T (p.His2101Leu)
c.6197A>T (p.His2066Leu)
Xg.154896204T>CCA10567875F8c.6302A>G (p.His2101Arg)
c.6197A>G (p.His2066Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154896204T>GCA414900211F8c.6302A>C (p.His2101Pro)
c.6197A>C (p.His2066Pro)
Xg.154896204T=CA2466826042F8c.6302A= (p.His2101=)
c.6197A= (p.His2066=)
Xg.154896205G>ACA414900216F8c.6301C>T (p.His2101Tyr)
c.6196C>T (p.His2066Tyr)
Xg.154896205G>CCA414900220F8c.6301C>G (p.His2101Asp)
c.6196C>G (p.His2066Asp)
 ClinVar dbSNP
Xg.154896205G=CA2466826043F8c.6301C= (p.His2101=)
c.6196C= (p.His2066=)
Xg.154896205G>TCA414900218F8c.6301C>A (p.His2101Asn)
c.6196C>A (p.His2066Asn)
Xg.154896206A=CA2466826044F8c.6300T= (p.Ile2100=)
c.6195T= (p.Ile2065=)
Xg.154896206A>CCA414900221F8c.6300T>G (p.Ile2100Met)
c.6195T>G (p.Ile2065Met)
 dbSNP gnomAD v2 gnomAD v4
Xg.154896206A>GCA519352969F8c.6300T>C (p.Ile2100=)
c.6195T>C (p.Ile2065=)
Xg.154896206A>TCA519352971F8c.6300T>A (p.Ile2100=)
c.6195T>A (p.Ile2065=)
Xg.154896209_154896211delCA2695237835F8c.6298_6300del (p.Ile2100del)
c.6193_6195del (p.Ile2065del)
Xg.154896207A>CCA414900226F8c.6299T>G (p.Ile2100Ser)
c.6194T>G (p.Ile2065Ser)
Xg.154896207A>GCA414900240F8c.6299T>C (p.Ile2100Thr)
c.6194T>C (p.Ile2065Thr)
 ClinVar
Xg.154896207A>TCA414900242F8c.6299T>A (p.Ile2100Asn)
c.6194T>A (p.Ile2065Asn)
Xg.154896208T>ACA414900248F8c.6298A>T (p.Ile2100Phe)
c.6193A>T (p.Ile2065Phe)
 gnomAD v4
Xg.154896208T>CCA414900252F8c.6298A>G (p.Ile2100Val)
c.6193A>G (p.Ile2065Val)
Xg.154896208T>GCA414900255F8c.6298A>C (p.Ile2100Leu)
c.6193A>C (p.Ile2065Leu)
Xg.154896208_154896210delinsTAACA2466826045F8c.6296_6298delinsTTA (p.Ile2099=)
c.6191_6193delinsTTA (p.Ile2064=)
Xg.154896209A>CCA414900260F8c.6297T>G (p.Ile2099Met)
c.6192T>G (p.Ile2064Met)
Xg.154896209A>GCA519352981F8c.6297T>C (p.Ile2099=)
c.6192T>C (p.Ile2064=)
Xg.154896209A>TCA519352982F8c.6297T>A (p.Ile2099=)
c.6192T>A (p.Ile2064=)
Xg.154896209_154896210delCA873338068F8c.6296_6297del (p.Ile2099AsnfsTer26)
c.6191_6192del (p.Ile2064AsnfsTer26)
 dbSNP
Xg.154896210A=CA2466826046F8c.6296T= (p.Ile2099=)
c.6191T= (p.Ile2064=)
Xg.154896210A>CCA414900264F8c.6296T>G (p.Ile2099Ser)
c.6191T>G (p.Ile2064Ser)
Xg.154896210A>GCA414900272F8c.6296T>C (p.Ile2099Thr)
c.6191T>C (p.Ile2064Thr)
Xg.154896210A>TCA414900273F8c.6296T>A (p.Ile2099Asn)
c.6191T>A (p.Ile2064Asn)
 ClinVar dbSNP gnomAD v4
Xg.154896211delCA2695237836F8c.6295del (p.Ile2099LeufsTer?)
c.6190del (p.Ile2064LeufsTer?)
Xg.154896211T>ACA414900283F8c.6295A>T (p.Ile2099Phe)
c.6190A>T (p.Ile2064Phe)
Xg.154896211T>CCA414900285F8c.6295A>G (p.Ile2099Val)
c.6190A>G (p.Ile2064Val)
Xg.154896211T>GCA414900278F8c.6295A>C (p.Ile2099Leu)
c.6190A>C (p.Ile2064Leu)
Xg.154896212C>ACA414900287F8c.6294G>T (p.Met2098Ile)
c.6189G>T (p.Met2063Ile)
 COSMIC COSMIC
Xg.154896212C>GCA414900297F8c.6294G>C (p.Met2098Ile)
c.6189G>C (p.Met2063Ile)
Xg.154896212C>TCA414900298F8c.6294G>A (p.Met2098Ile)
c.6189G>A (p.Met2063Ile)
Xg.154896213A>CCA414900301F8c.6293T>G (p.Met2098Arg)
c.6188T>G (p.Met2063Arg)
Xg.154896213A>GCA414900302F8c.6293T>C (p.Met2098Thr)
c.6188T>C (p.Met2063Thr)
Xg.154896213A>TCA414900303F8c.6293T>A (p.Met2098Lys)
c.6188T>A (p.Met2063Lys)
Xg.154896214T>ACA414900306F8c.6292A>T (p.Met2098Leu)
c.6187A>T (p.Met2063Leu)
Xg.154896214T>CCA414900309F8c.6292A>G (p.Met2098Val)
c.6187A>G (p.Met2063Val)
Xg.154896214T>GCA414900311F8c.6292A>C (p.Met2098Leu)
c.6187A>C (p.Met2063Leu)
Xg.154896215T>ACA519352984F8c.6291A>T (p.Pro2097=)
c.6186A>T (p.Pro2062=)
Xg.154896215T>CCA519352985F8c.6291A>G (p.Pro2097=)
c.6186A>G (p.Pro2062=)
Xg.154896215T>GCA519352986F8c.6291A>C (p.Pro2097=)
c.6186A>C (p.Pro2062=)
Xg.154896215_154896221delinsCACCTACCAATTACA2695237837F8c.6285_6291delinsTAATTGGTAGGTG (p.Leu2095PhefsTer4)
c.6180_6186delinsTAATTGGTAGGTG (p.Leu2060PhefsTer4)
Xg.154896216G>ACA414900314F8c.6290C>T (p.Pro2097Leu)
c.6185C>T (p.Pro2062Leu)
Xg.154896216G>CCA414900316F8c.6290C>G (p.Pro2097Arg)
c.6185C>G (p.Pro2062Arg)
Xg.154896216G>TCA414900319F8c.6290C>A (p.Pro2097Gln)
c.6185C>A (p.Pro2062Gln)
Xg.154896217G>ACA414900331F8c.6289C>T (p.Pro2097Ser)
c.6184C>T (p.Pro2062Ser)
Xg.154896217G>CCA414900327F8c.6289C>G (p.Pro2097Ala)
c.6184C>G (p.Pro2062Ala)
 dbSNP
Xg.154896217G=CA2466826047F8c.6289C= (p.Pro2097=)
c.6184C= (p.Pro2062=)
Xg.154896217G>TCA414900324F8c.6289C>A (p.Pro2097Thr)
c.6184C>A (p.Pro2062Thr)
Xg.154896218T>ACA519352988F8c.6288A>T (p.Ala2096=)
c.6183A>T (p.Ala2061=)
Xg.154896218T>CCA519352989F8c.6288A>G (p.Ala2096=)
c.6183A>G (p.Ala2061=)
Xg.154896218T>GCA519352990F8c.6288A>C (p.Ala2096=)
c.6183A>C (p.Ala2061=)
Xg.154896219G>ACA414900338F8c.6287C>T (p.Ala2096Val)
c.6182C>T (p.Ala2061Val)
 dbSNP gnomAD v2 gnomAD v4
Xg.154896219G>CCA414900342F8c.6287C>G (p.Ala2096Gly)
c.6182C>G (p.Ala2061Gly)
Xg.154896219G=CA2466826048F8c.6287C= (p.Ala2096=)
c.6182C= (p.Ala2061=)
Xg.154896219G>TCA414900345F8c.6287C>A (p.Ala2096Glu)
c.6182C>A (p.Ala2061Glu)
Xg.154896220C>ACA414900350F8c.6286G>T (p.Ala2096Ser)
c.6181G>T (p.Ala2061Ser)
Xg.154896220C=CA2466826049F8c.6286G= (p.Ala2096=)
c.6181G= (p.Ala2061=)
Xg.154896220C>GCA414900354F8c.6286G>C (p.Ala2096Pro)
c.6181G>C (p.Ala2061Pro)
Xg.154896220C>TCA337315961F8c.6286G>A (p.Ala2096Thr)
c.6181G>A (p.Ala2061Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154896221C>ACA414900363F8c.6285G>T (p.Leu2095Phe)
c.6180G>T (p.Leu2060Phe)
Xg.154896221C>GCA414900366F8c.6285G>C (p.Leu2095Phe)
c.6180G>C (p.Leu2060Phe)
Xg.154896221C>TCA519352992F8c.6285G>A (p.Leu2095=)
c.6180G>A (p.Leu2060=)
Xg.154896222A>CCA414900370F8c.6284T>G (p.Leu2095Trp)
c.6179T>G (p.Leu2060Trp)
Xg.154896222A>GCA414900371F8c.6284T>C (p.Leu2095Ser)
c.6179T>C (p.Leu2060Ser)
Xg.154896222A>TCA414900372F8c.6284T>A (p.Leu2095Ter)
c.6179T>A (p.Leu2060Ter)
Xg.154896222_154896223insTCA2695237838F8c.6283_6284insA (p.Leu2095TyrfsTer?)
c.6178_6179insA (p.Leu2060TyrfsTer?)
Xg.154896223A>CCA414900373F8c.6283T>G (p.Leu2095Val)
c.6178T>G (p.Leu2060Val)
Xg.154896223A>GCA519352993F8c.6283T>C (p.Leu2095=)
c.6178T>C (p.Leu2060=)
Xg.154896223A>TCA414900374F8c.6283T>A (p.Leu2095Met)
c.6178T>A (p.Leu2060Met)
Xg.154896224C>ACA519352995F8c.6282G>T (p.Leu2094=)
c.6177G>T (p.Leu2059=)
Xg.154896224C>GCA519352996F8c.6282G>C (p.Leu2094=)
c.6177G>C (p.Leu2059=)
Xg.154896224C>TCA519352997F8c.6282G>A (p.Leu2094=)
c.6177G>A (p.Leu2059=)
Xg.154896225A>CCA414900376F8c.6281T>G (p.Leu2094Arg)
c.6176T>G (p.Leu2059Arg)
Xg.154896225A>GCA414900378F8c.6281T>C (p.Leu2094Pro)
c.6176T>C (p.Leu2059Pro)
Xg.154896225A>TCA414900375F8c.6281T>A (p.Leu2094Gln)
c.6176T>A (p.Leu2059Gln)
Xg.154896226G>ACA519352999F8c.6280C>T (p.Leu2094=)
c.6175C>T (p.Leu2059=)
Xg.154896226G>CCA414900379F8c.6280C>G (p.Leu2094Val)
c.6175C>G (p.Leu2059Val)
Xg.154896226G>TCA414900382F8c.6280C>A (p.Leu2094Met)
c.6175C>A (p.Leu2059Met)
Xg.154896227A>CCA414900386F8c.6279T>G (p.Asp2093Glu)
c.6174T>G (p.Asp2058Glu)
Xg.154896227A>GCA519353000F8c.6279T>C (p.Asp2093=)
c.6174T>C (p.Asp2058=)
Xg.154896227A>TCA414900389F8c.6279T>A (p.Asp2093Glu)
c.6174T>A (p.Asp2058Glu)
Xg.154896228T>ACA414900400F8c.6278A>T (p.Asp2093Val)
c.6173A>T (p.Asp2058Val)
 ClinVar dbSNP
Xg.154896228T>CCA255201F8c.6278A>G (p.Asp2093Gly)
c.6173A>G (p.Asp2058Gly)
 ClinVar dbSNP
Xg.154896228T>GCA414900406F8c.6278A>C (p.Asp2093Ala)
c.6173A>C (p.Asp2058Ala)
Xg.154896228T=CA2466826050F8c.6278A= (p.Asp2093=)
c.6173A= (p.Asp2058=)
Xg.154896229C>ACA414900407F8c.6277G>T (p.Asp2093Tyr)
c.6172G>T (p.Asp2058Tyr)
 dbSNP
Xg.154896229C=CA2466826051F8c.6277G= (p.Asp2093=)
c.6172G= (p.Asp2058=)
Xg.154896229C>GCA414900408F8c.6277G>C (p.Asp2093His)
c.6172G>C (p.Asp2058His)
 dbSNP
Xg.154896229C>TCA414900410F8c.6277G>A (p.Asp2093Asn)
c.6172G>A (p.Asp2058Asn)
Xg.154896230C>ACA519353003F8c.6276G>T (p.Val2092=)
c.6171G>T (p.Val2057=)
Xg.154896230C=CA2466826052F8c.6276G= (p.Val2092=)
c.6171G= (p.Val2057=)
Xg.154896230C>GCA519353002F8c.6276G>C (p.Val2092=)
c.6171G>C (p.Val2057=)
Xg.154896230C>TCA10567876F8c.6276G>A (p.Val2092=)
c.6171G>A (p.Val2057=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154896231A=CA2466826053F8c.6275T= (p.Val2092=)
c.6170T= (p.Val2057=)
Xg.154896231A>CCA414900425F8c.6275T>G (p.Val2092Gly)
c.6170T>G (p.Val2057Gly)
 dbSNP
Xg.154896231A>GCA414900424F8c.6275T>C (p.Val2092Ala)
c.6170T>C (p.Val2057Ala)
Xg.154896231A>TCA414900416F8c.6275T>A (p.Val2092Glu)
c.6170T>A (p.Val2057Glu)
Xg.154896232C>ACA414900426F8c.6274G>T (p.Val2092Leu)
c.6169G>T (p.Val2057Leu)
Xg.154896232C>GCA414900427F8c.6274G>C (p.Val2092Leu)
c.6169G>C (p.Val2057Leu)
Xg.154896232C>TCA414900429F8c.6274G>A (p.Val2092Met)
c.6169G>A (p.Val2057Met)
Xg.154896233C>ACA414900433F8c.6274-1G>T (n.6274-1G>T)
c.6169-1G>T (n.6169-1G>T)
 dbSNP COSMIC COSMIC
Xg.154896233C=CA2466826054F8c.6274-1G= (n.6274-1G=)
c.6169-1G= (n.6169-1G=)
Xg.154896233C>GCA414900434F8c.6274-1G>C (n.6274-1G>C)
c.6169-1G>C (n.6169-1G>C)
Xg.154896233C>TCA414900436F8c.6274-1G>A (n.6274-1G>A)
c.6169-1G>A (n.6169-1G>A)
 dbSNP
Xg.154896234T>ACA414900442F8c.6274-2A>T (n.6274-2A>T)
c.6169-2A>T (n.6169-2A>T)
Xg.154896234T>CCA414900446F8c.6274-2A>G (n.6274-2A>G)
c.6169-2A>G (n.6169-2A>G)
 ClinVar
Xg.154896234T>GCA414900447F8c.6274-2A>C (n.6274-2A>C)
c.6169-2A>C (n.6169-2A>C)
Xg.154896235A>GCA2579744401F8c.6274-3T>C (n.6274-3T>C)
c.6169-3T>C (n.6169-3T>C)
 gnomAD v4
Xg.154896237C>ACA873338099F8c.6274-5G>T (n.6274-5G>T)
c.6169-5G>T (n.6169-5G>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.154896237C=CA2466826055F8c.6274-5G= (n.6274-5G=)
c.6169-5G= (n.6169-5G=)
Xg.154896237C>GCA10567877F8c.6274-5G>C (n.6274-5G>C)
c.6169-5G>C (n.6169-5G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154896237C>TCA2695237839F8c.6274-5G>A (n.6274-5G>A)
c.6169-5G>A (n.6169-5G>A)
Xg.154896239A=CA2466826056F8c.6274-7T= (n.6274-7T=)
c.6169-7T= (n.6169-7T=)
Xg.154896239A>TCA645251428F8c.6274-7T>A (n.6274-7T>A)
c.6169-7T>A (n.6169-7T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154896240T>CCA2466826057F8c.6274-8A>G (n.6274-8A>G)
c.6169-8A>G (n.6169-8A>G)
 dbSNP
Xg.154896240T=CA2466826058F8c.6274-8A= (n.6274-8A=)
c.6169-8A= (n.6169-8A=)
Xg.154896245A=CA2466826059F8c.6274-13T= (n.6274-13T=)
c.6169-13T= (n.6169-13T=)
Xg.154896245A>CCA2466826060F8c.6274-13T>G (n.6274-13T>G)
c.6169-13T>G (n.6169-13T>G)
 dbSNP
Xg.154896249delCA2695152049F8c.6274-17del (n.6274-17del)
c.6169-17del (n.6169-17del)
 gnomAD v4
Xg.154896249C>TCA2695152051F8c.6274-17G>A (n.6274-17G>A)
c.6169-17G>A (n.6169-17G>A)
 gnomAD v4
Xg.154896251C>GCA2695152053F8c.6274-19G>C (n.6274-19G>C)
c.6169-19G>C (n.6169-19G>C)
 gnomAD v4
Xg.154896252T>GCA2466826062F8c.6274-20A>C (n.6274-20A>C)
c.6169-20A>C (n.6169-20A>C)
 dbSNP
Xg.154896252T=CA2466826061F8c.6274-20A= (n.6274-20A=)
c.6169-20A= (n.6169-20A=)

Number of alleles fetched