Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.104741116_104741192delCA2626827403ADSS1c.667-1_742del
c.796-1_871del
c.779-1_854del
c.732-1_807del
n.1588-1_1663del
c.670-1_745del
c.799-1_874del
c.484-1_559del
c.481-1_556del
c.52-1_127del
 gnomAD v4
14g.104741136G>ACA391240408ADSS1c.686G>A (p.Arg229Lys)
c.815G>A (p.Arg272Lys)
c.798G>A (n.798G>A)
c.751G>A (n.751G>A)
n.1607G>A
c.689G>A (p.Arg230Lys)
c.818G>A (p.Arg273Lys)
c.503G>A (p.Arg168Lys)
c.500G>A (p.Arg167Lys)
c.71G>A (p.Arg24Lys)
14g.104741136G>CCA7373812ADSS1c.686G>C (p.Arg229Thr)
c.815G>C (p.Arg272Thr)
c.798G>C (n.798G>C)
c.751G>C (n.751G>C)
n.1607G>C
c.689G>C (p.Arg230Thr)
c.818G>C (p.Arg273Thr)
c.503G>C (p.Arg168Thr)
c.500G>C (p.Arg167Thr)
c.71G>C (p.Arg24Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.104741136G=CA2160932295ADSS1c.686G= (p.Arg229=)
c.815G= (p.Arg272=)
c.798G= (n.798G=)
c.751G= (n.751G=)
n.1607G=
c.689G= (p.Arg230=)
c.818G= (p.Arg273=)
c.503G= (p.Arg168=)
c.500G= (p.Arg167=)
c.71G= (p.Arg24=)
14g.104741136G>TCA391240405ADSS1c.686G>T (p.Arg229Ile)
c.815G>T (p.Arg272Ile)
c.798G>T (n.798G>T)
c.751G>T (n.751G>T)
n.1607G>T
c.689G>T (p.Arg230Ile)
c.818G>T (p.Arg273Ile)
c.503G>T (p.Arg168Ile)
c.500G>T (p.Arg167Ile)
c.71G>T (p.Arg24Ile)
14g.104741137A>CCA391240409ADSS1c.687A>C (p.Arg229Ser)
c.816A>C (p.Arg272Ser)
c.799A>C (n.799A>C)
c.752A>C (n.752A>C)
n.1608A>C
c.690A>C (p.Arg230Ser)
c.819A>C (p.Arg273Ser)
c.504A>C (p.Arg168Ser)
c.501A>C (p.Arg167Ser)
c.72A>C (p.Arg24Ser)
14g.104741137A>GCA488457320ADSS1c.687A>G (p.Arg229=)
c.816A>G (p.Arg272=)
c.799A>G (n.799A>G)
c.752A>G (n.752A>G)
n.1608A>G
c.690A>G (p.Arg230=)
c.819A>G (p.Arg273=)
c.504A>G (p.Arg168=)
c.501A>G (p.Arg167=)
c.72A>G (p.Arg24=)
14g.104741137A>TCA391240411ADSS1c.687A>T (p.Arg229Ser)
c.816A>T (p.Arg272Ser)
c.799A>T (n.799A>T)
c.752A>T (n.752A>T)
n.1608A>T
c.690A>T (p.Arg230Ser)
c.819A>T (p.Arg273Ser)
c.504A>T (p.Arg168Ser)
c.501A>T (p.Arg167Ser)
c.72A>T (p.Arg24Ser)
14g.104741138C>ACA391240412ADSS1c.688C>A (p.Pro230Thr)
c.817C>A (p.Pro273Thr)
c.800C>A (n.800C>A)
c.753C>A (n.753C>A)
n.1609C>A
c.691C>A (p.Pro231Thr)
c.820C>A (p.Pro274Thr)
c.505C>A (p.Pro169Thr)
c.502C>A (p.Pro168Thr)
c.73C>A (p.Pro25Thr)
14g.104741138C>GCA391240414ADSS1c.688C>G (p.Pro230Ala)
c.817C>G (p.Pro273Ala)
c.800C>G (n.800C>G)
c.753C>G (n.753C>G)
n.1609C>G
c.691C>G (p.Pro231Ala)
c.820C>G (p.Pro274Ala)
c.505C>G (p.Pro169Ala)
c.502C>G (p.Pro168Ala)
c.73C>G (p.Pro25Ala)
14g.104741138C>TCA391240415ADSS1c.688C>T (p.Pro230Ser)
c.817C>T (p.Pro273Ser)
c.800C>T (n.800C>T)
c.753C>T (n.753C>T)
n.1609C>T
c.691C>T (p.Pro231Ser)
c.820C>T (p.Pro274Ser)
c.505C>T (p.Pro169Ser)
c.502C>T (p.Pro168Ser)
c.73C>T (p.Pro25Ser)
 gnomAD v4
14g.104741138_104741142delCA2626827468ADSS1c.688_692del (p.Pro230GlyfsTer10)
c.817_821del (p.Pro273GlyfsTer10)
c.800_804del (n.800_804del)
c.753_757del (n.753_757del)
n.1609_1613del
c.691_695del (p.Pro231GlyfsTer10)
c.820_824del (p.Pro274GlyfsTer10)
c.505_509del (p.Pro169GlyfsTer10)
c.502_506del (p.Pro168GlyfsTer10)
c.73_77del (p.Pro25GlyfsTer10)
 gnomAD v4
14g.104741139C>ACA391240421ADSS1c.689C>A (p.Pro230His)
c.818C>A (p.Pro273His)
c.801C>A (n.801C>A)
c.754C>A (n.754C>A)
n.1610C>A
c.692C>A (p.Pro231His)
c.821C>A (p.Pro274His)
c.506C>A (p.Pro169His)
c.503C>A (p.Pro168His)
c.74C>A (p.Pro25His)
 dbSNP gnomAD v4
14g.104741139C=CA2160932296ADSS1c.689C= (p.Pro230=)
c.818C= (p.Pro273=)
c.801C= (n.801C=)
c.754C= (n.754C=)
n.1610C=
c.692C= (p.Pro231=)
c.821C= (p.Pro274=)
c.506C= (p.Pro169=)
c.503C= (p.Pro168=)
c.74C= (p.Pro25=)
14g.104741139C>GCA391240419ADSS1c.689C>G (p.Pro230Arg)
c.818C>G (p.Pro273Arg)
c.801C>G (n.801C>G)
c.754C>G (n.754C>G)
n.1610C>G
c.692C>G (p.Pro231Arg)
c.821C>G (p.Pro274Arg)
c.506C>G (p.Pro169Arg)
c.503C>G (p.Pro168Arg)
c.74C>G (p.Pro25Arg)
14g.104741139C>TCA267336765ADSS1c.689C>T (p.Pro230Leu)
c.818C>T (p.Pro273Leu)
c.801C>T (n.801C>T)
c.754C>T (n.754C>T)
n.1610C>T
c.692C>T (p.Pro231Leu)
c.821C>T (p.Pro274Leu)
c.506C>T (p.Pro169Leu)
c.503C>T (p.Pro168Leu)
c.74C>T (p.Pro25Leu)
 dbSNP
14g.104741140C>ACA488457323ADSS1c.690C>A (p.Pro230=)
c.819C>A (p.Pro273=)
c.802C>A (n.802C>A)
c.755C>A (n.755C>A)
n.1611C>A
c.693C>A (p.Pro231=)
c.822C>A (p.Pro274=)
c.507C>A (p.Pro169=)
c.504C>A (p.Pro168=)
c.75C>A (p.Pro25=)
14g.104741140C>GCA488457324ADSS1c.690C>G (p.Pro230=)
c.819C>G (p.Pro273=)
c.802C>G (n.802C>G)
c.755C>G (n.755C>G)
n.1611C>G
c.693C>G (p.Pro231=)
c.822C>G (p.Pro274=)
c.507C>G (p.Pro169=)
c.504C>G (p.Pro168=)
c.75C>G (p.Pro25=)
14g.104741140C>TCA488457325ADSS1c.690C>T (p.Pro230=)
c.819C>T (p.Pro273=)
c.802C>T (n.802C>T)
c.755C>T (n.755C>T)
n.1611C>T
c.693C>T (p.Pro231=)
c.822C>T (p.Pro274=)
c.507C>T (p.Pro169=)
c.504C>T (p.Pro168=)
c.75C>T (p.Pro25=)
14g.104741141A=CA2160932297ADSS1c.691A= (p.Met231=)
c.820A= (p.Met274=)
c.803A= (n.803A=)
c.756A= (n.756A=)
n.1612A=
c.694A= (p.Met232=)
c.823A= (p.Met275=)
c.508A= (p.Met170=)
c.505A= (p.Met169=)
c.76A= (p.Met26=)
14g.104741141A>CCA391240426ADSS1c.691A>C (p.Met231Leu)
c.820A>C (p.Met274Leu)
c.803A>C (n.803A>C)
c.756A>C (n.756A>C)
n.1612A>C
c.694A>C (p.Met232Leu)
c.823A>C (p.Met275Leu)
c.508A>C (p.Met170Leu)
c.505A>C (p.Met169Leu)
c.76A>C (p.Met26Leu)
14g.104741141A>GCA7373813ADSS1c.691A>G (p.Met231Val)
c.820A>G (p.Met274Val)
c.803A>G (n.803A>G)
c.756A>G (n.756A>G)
n.1612A>G
c.694A>G (p.Met232Val)
c.823A>G (p.Met275Val)
c.508A>G (p.Met170Val)
c.505A>G (p.Met169Val)
c.76A>G (p.Met26Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.104741141A>TCA391240427ADSS1c.691A>T (p.Met231Leu)
c.820A>T (p.Met274Leu)
c.803A>T (n.803A>T)
c.756A>T (n.756A>T)
n.1612A>T
c.694A>T (p.Met232Leu)
c.823A>T (p.Met275Leu)
c.508A>T (p.Met170Leu)
c.505A>T (p.Met169Leu)
c.76A>T (p.Met26Leu)
14g.104741142T>ACA391240429ADSS1c.692T>A (p.Met231Lys)
c.821T>A (p.Met274Lys)
c.804T>A (n.804T>A)
c.757T>A (n.757T>A)
n.1613T>A
c.695T>A (p.Met232Lys)
c.824T>A (p.Met275Lys)
c.509T>A (p.Met170Lys)
c.506T>A (p.Met169Lys)
c.77T>A (p.Met26Lys)
14g.104741142T>CCA391240430ADSS1c.692T>C (p.Met231Thr)
c.821T>C (p.Met274Thr)
c.804T>C (n.804T>C)
c.757T>C (n.757T>C)
n.1613T>C
c.695T>C (p.Met232Thr)
c.824T>C (p.Met275Thr)
c.509T>C (p.Met170Thr)
c.506T>C (p.Met169Thr)
c.77T>C (p.Met26Thr)
 gnomAD v4
14g.104741142T>GCA391240431ADSS1c.692T>G (p.Met231Arg)
c.821T>G (p.Met274Arg)
c.804T>G (n.804T>G)
c.757T>G (n.757T>G)
n.1613T>G
c.695T>G (p.Met232Arg)
c.824T>G (p.Met275Arg)
c.509T>G (p.Met170Arg)
c.506T>G (p.Met169Arg)
c.77T>G (p.Met26Arg)
14g.104741143G>ACA391240434ADSS1c.693G>A (p.Met231Ile)
c.822G>A (p.Met274Ile)
c.805G>A (n.805G>A)
c.758G>A (n.758G>A)
n.1614G>A
c.696G>A (p.Met232Ile)
c.825G>A (p.Met275Ile)
c.510G>A (p.Met170Ile)
c.507G>A (p.Met169Ile)
c.78G>A (p.Met26Ile)
14g.104741143G>CCA391240438ADSS1c.693G>C (p.Met231Ile)
c.822G>C (p.Met274Ile)
c.805G>C (n.805G>C)
c.758G>C (n.758G>C)
n.1614G>C
c.696G>C (p.Met232Ile)
c.825G>C (p.Met275Ile)
c.510G>C (p.Met170Ile)
c.507G>C (p.Met169Ile)
c.78G>C (p.Met26Ile)
 dbSNP gnomAD v3 gnomAD v4
14g.104741143G=CA2160932298ADSS1c.693G= (p.Met231=)
c.822G= (p.Met274=)
c.805G= (n.805G=)
c.758G= (n.758G=)
n.1614G=
c.696G= (p.Met232=)
c.825G= (p.Met275=)
c.510G= (p.Met170=)
c.507G= (p.Met169=)
c.78G= (p.Met26=)
14g.104741143G>TCA391240436ADSS1c.693G>T (p.Met231Ile)
c.822G>T (p.Met274Ile)
c.805G>T (n.805G>T)
c.758G>T (n.758G>T)
n.1614G>T
c.696G>T (p.Met232Ile)
c.825G>T (p.Met275Ile)
c.510G>T (p.Met170Ile)
c.507G>T (p.Met169Ile)
c.78G>T (p.Met26Ile)
14g.104741144G>ACA267336767ADSS1c.694G>A (p.Val232Ile)
c.823G>A (p.Val275Ile)
c.806G>A (n.806G>A)
c.759G>A (n.759G>A)
n.1615G>A
c.697G>A (p.Val233Ile)
c.826G>A (p.Val276Ile)
c.511G>A (p.Val171Ile)
c.508G>A (p.Val170Ile)
c.79G>A (p.Val27Ile)
n.565C>T
 dbSNP gnomAD v4
14g.104741144G>CCA391240440ADSS1c.694G>C (p.Val232Leu)
c.823G>C (p.Val275Leu)
c.806G>C (n.806G>C)
c.759G>C (n.759G>C)
n.1615G>C
c.697G>C (p.Val233Leu)
c.826G>C (p.Val276Leu)
c.511G>C (p.Val171Leu)
c.508G>C (p.Val170Leu)
c.79G>C (p.Val27Leu)
n.565C>G
14g.104741144G=CA2160932299ADSS1c.694G= (p.Val232=)
c.823G= (p.Val275=)
c.806G= (n.806G=)
c.759G= (n.759G=)
n.1615G=
c.697G= (p.Val233=)
c.826G= (p.Val276=)
c.511G= (p.Val171=)
c.508G= (p.Val170=)
c.79G= (p.Val27=)
n.565C=
14g.104741144G>TCA391240442ADSS1c.694G>T (p.Val232Phe)
c.823G>T (p.Val275Phe)
c.806G>T (n.806G>T)
c.759G>T (n.759G>T)
n.1615G>T
c.697G>T (p.Val233Phe)
c.826G>T (p.Val276Phe)
c.511G>T (p.Val171Phe)
c.508G>T (p.Val170Phe)
c.79G>T (p.Val27Phe)
n.565C>A
14g.104741145T>ACA391240444ADSS1c.695T>A (p.Val232Asp)
c.824T>A (p.Val275Asp)
c.807T>A (n.807T>A)
c.760T>A (n.760T>A)
n.1616T>A
c.698T>A (p.Val233Asp)
c.827T>A (p.Val276Asp)
c.512T>A (p.Val171Asp)
c.509T>A (p.Val170Asp)
c.80T>A (p.Val27Asp)
n.564A>T
14g.104741145T>CCA391240445ADSS1c.695T>C (p.Val232Ala)
c.824T>C (p.Val275Ala)
c.807T>C (n.807T>C)
c.760T>C (n.760T>C)
n.1616T>C
c.698T>C (p.Val233Ala)
c.827T>C (p.Val276Ala)
c.512T>C (p.Val171Ala)
c.509T>C (p.Val170Ala)
c.80T>C (p.Val27Ala)
n.564A>G
14g.104741145T>GCA391240448ADSS1c.695T>G (p.Val232Gly)
c.824T>G (p.Val275Gly)
c.807T>G (n.807T>G)
c.760T>G (n.760T>G)
n.1616T>G
c.698T>G (p.Val233Gly)
c.827T>G (p.Val276Gly)
c.512T>G (p.Val171Gly)
c.509T>G (p.Val170Gly)
c.80T>G (p.Val27Gly)
n.564A>C
14g.104741146C>ACA488457326ADSS1c.696C>A (p.Val232=)
c.825C>A (p.Val275=)
c.808C>A (n.808C>A)
c.761C>A (n.761C>A)
n.1617C>A
c.699C>A (p.Val233=)
c.828C>A (p.Val276=)
c.513C>A (p.Val171=)
c.510C>A (p.Val170=)
c.81C>A (p.Val27=)
n.563G>T
14g.104741146C>GCA488457327ADSS1c.696C>G (p.Val232=)
c.825C>G (p.Val275=)
c.808C>G (n.808C>G)
c.761C>G (n.761C>G)
n.1617C>G
c.699C>G (p.Val233=)
c.828C>G (p.Val276=)
c.513C>G (p.Val171=)
c.510C>G (p.Val170=)
c.81C>G (p.Val27=)
n.563G>C
14g.104741146C>TCA488457328ADSS1c.696C>T (p.Val232=)
c.825C>T (p.Val275=)
c.808C>T (n.808C>T)
c.761C>T (n.761C>T)
n.1617C>T
c.699C>T (p.Val233=)
c.828C>T (p.Val276=)
c.513C>T (p.Val171=)
c.510C>T (p.Val170=)
c.81C>T (p.Val27=)
n.563G>A
14g.104741147C>ACA488457329ADSS1c.697C>A (p.Arg233=)
c.826C>A (p.Arg276=)
c.809C>A (n.809C>A)
c.762C>A (n.762C>A)
n.1618C>A
c.700C>A (p.Arg234=)
c.829C>A (p.Arg277=)
c.514C>A (p.Arg172=)
c.511C>A (p.Arg171=)
c.82C>A (p.Arg28=)
n.562G>T
14g.104741147C=CA2160932300ADSS1c.697C= (p.Arg233=)
c.826C= (p.Arg276=)
c.809C= (n.809C=)
c.762C= (n.762C=)
n.1618C=
c.700C= (p.Arg234=)
c.829C= (p.Arg277=)
c.514C= (p.Arg172=)
c.511C= (p.Arg171=)
c.82C= (p.Arg28=)
n.562G=
14g.104741147C>GCA391240450ADSS1c.697C>G (p.Arg233Gly)
c.826C>G (p.Arg276Gly)
c.809C>G (n.809C>G)
c.762C>G (n.762C>G)
n.1618C>G
c.700C>G (p.Arg234Gly)
c.829C>G (p.Arg277Gly)
c.514C>G (p.Arg172Gly)
c.511C>G (p.Arg171Gly)
c.82C>G (p.Arg28Gly)
n.562G>C
14g.104741147C>TCA391240452ADSS1c.697C>T (p.Arg233Ter)
c.826C>T (p.Arg276Ter)
c.809C>T (n.809C>T)
c.762C>T (n.762C>T)
n.1618C>T
c.700C>T (p.Arg234Ter)
c.829C>T (p.Arg277Ter)
c.514C>T (p.Arg172Ter)
c.511C>T (p.Arg171Ter)
c.82C>T (p.Arg28Ter)
n.562G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.104741148G>ACA7373814ADSS1c.698G>A (p.Arg233Gln)
c.827G>A (p.Arg276Gln)
c.810G>A (n.810G>A)
c.763G>A (n.763G>A)
n.1619G>A
c.701G>A (p.Arg234Gln)
c.830G>A (p.Arg277Gln)
c.515G>A (p.Arg172Gln)
c.512G>A (p.Arg171Gln)
c.83G>A (p.Arg28Gln)
n.561C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.104741148G>CCA7373815ADSS1c.698G>C (p.Arg233Pro)
c.827G>C (p.Arg276Pro)
c.810G>C (n.810G>C)
c.763G>C (n.763G>C)
n.1619G>C
c.701G>C (p.Arg234Pro)
c.830G>C (p.Arg277Pro)
c.515G>C (p.Arg172Pro)
c.512G>C (p.Arg171Pro)
c.83G>C (p.Arg28Pro)
n.561C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.104741148G=CA2160932301ADSS1c.698G= (p.Arg233=)
c.827G= (p.Arg276=)
c.810G= (n.810G=)
c.763G= (n.763G=)
n.1619G=
c.701G= (p.Arg234=)
c.830G= (p.Arg277=)
c.515G= (p.Arg172=)
c.512G= (p.Arg171=)
c.83G= (p.Arg28=)
n.561C=
14g.104741148G>TCA391240456ADSS1c.698G>T (p.Arg233Leu)
c.827G>T (p.Arg276Leu)
c.810G>T (n.810G>T)
c.763G>T (n.763G>T)
n.1619G>T
c.701G>T (p.Arg234Leu)
c.830G>T (p.Arg277Leu)
c.515G>T (p.Arg172Leu)
c.512G>T (p.Arg171Leu)
c.83G>T (p.Arg28Leu)
n.561C>A
14g.104741149A>CCA488457330ADSS1c.699A>C (p.Arg233=)
c.828A>C (p.Arg276=)
c.811A>C (n.811A>C)
c.764A>C (n.764A>C)
n.1620A>C
c.702A>C (p.Arg234=)
c.831A>C (p.Arg277=)
c.516A>C (p.Arg172=)
c.513A>C (p.Arg171=)
c.84A>C (p.Arg28=)
n.560T>G
14g.104741149A>GCA488457331ADSS1c.699A>G (p.Arg233=)
c.828A>G (p.Arg276=)
c.811A>G (n.811A>G)
c.764A>G (n.764A>G)
n.1620A>G
c.702A>G (p.Arg234=)
c.831A>G (p.Arg277=)
c.516A>G (p.Arg172=)
c.513A>G (p.Arg171=)
c.84A>G (p.Arg28=)
n.560T>C
14g.104741149A>TCA488457332ADSS1c.699A>T (p.Arg233=)
c.828A>T (p.Arg276=)
c.811A>T (n.811A>T)
c.764A>T (n.764A>T)
n.1620A>T
c.702A>T (p.Arg234=)
c.831A>T (p.Arg277=)
c.516A>T (p.Arg172=)
c.513A>T (p.Arg171=)
c.84A>T (p.Arg28=)
n.560T>A
14g.104741150G>ACA391240464ADSS1c.700G>A (p.Asp234Asn)
c.829G>A (p.Asp277Asn)
c.812G>A (n.812G>A)
c.765G>A (n.765G>A)
n.1621G>A
c.703G>A (p.Asp235Asn)
c.832G>A (p.Asp278Asn)
c.517G>A (p.Asp173Asn)
c.514G>A (p.Asp172Asn)
c.85G>A (p.Asp29Asn)
n.559C>T
 dbSNP gnomAD v4
14g.104741150G>CCA391240460ADSS1c.700G>C (p.Asp234His)
c.829G>C (p.Asp277His)
c.812G>C (n.812G>C)
c.765G>C (n.765G>C)
n.1621G>C
c.703G>C (p.Asp235His)
c.832G>C (p.Asp278His)
c.517G>C (p.Asp173His)
c.514G>C (p.Asp172His)
c.85G>C (p.Asp29His)
n.559C>G
14g.104741150G>TCA391240463ADSS1c.700G>T (p.Asp234Tyr)
c.829G>T (p.Asp277Tyr)
c.812G>T (n.812G>T)
c.765G>T (n.765G>T)
n.1621G>T
c.703G>T (p.Asp235Tyr)
c.832G>T (p.Asp278Tyr)
c.517G>T (p.Asp173Tyr)
c.514G>T (p.Asp172Tyr)
c.85G>T (p.Asp29Tyr)
n.559C>A
14g.104741151A>CCA391240466ADSS1c.701A>C (p.Asp234Ala)
c.830A>C (p.Asp277Ala)
c.813A>C (n.813A>C)
c.766A>C (n.766A>C)
n.1622A>C
c.704A>C (p.Asp235Ala)
c.833A>C (p.Asp278Ala)
c.518A>C (p.Asp173Ala)
c.515A>C (p.Asp172Ala)
c.86A>C (p.Asp29Ala)
n.558T>G
14g.104741151A>GCA391240468ADSS1c.701A>G (p.Asp234Gly)
c.830A>G (p.Asp277Gly)
c.813A>G (n.813A>G)
c.766A>G (n.766A>G)
n.1622A>G
c.704A>G (p.Asp235Gly)
c.833A>G (p.Asp278Gly)
c.518A>G (p.Asp173Gly)
c.515A>G (p.Asp172Gly)
c.86A>G (p.Asp29Gly)
n.558T>C
14g.104741151A>TCA391240467ADSS1c.701A>T (p.Asp234Val)
c.830A>T (p.Asp277Val)
c.813A>T (n.813A>T)
c.766A>T (n.766A>T)
n.1622A>T
c.704A>T (p.Asp235Val)
c.833A>T (p.Asp278Val)
c.518A>T (p.Asp173Val)
c.515A>T (p.Asp172Val)
c.86A>T (p.Asp29Val)
n.558T>A
14g.104741151_104741154delinsATGGCA2160932302ADSS1c.701_704delinsATGG (p.Asp234=)
c.830_833delinsATGG (p.Asp277=)
c.813_816delinsATGG (n.813_816delinsATGG)
c.766_769delinsATGG (n.766_769delinsATGG)
n.1622_1625delinsATGG
c.704_707delinsATGG (p.Asp235=)
c.833_836delinsATGG (p.Asp278=)
c.518_521delinsATGG (p.Asp173=)
c.515_518delinsATGG (p.Asp172=)
c.86_89delinsATGG (p.Asp29=)
n.555_558delinsCCAT
14g.104741152T>ACA391240470ADSS1c.702T>A (p.Asp234Glu)
c.831T>A (p.Asp277Glu)
c.814T>A (n.814T>A)
c.767T>A (n.767T>A)
n.1623T>A
c.705T>A (p.Asp235Glu)
c.834T>A (p.Asp278Glu)
c.519T>A (p.Asp173Glu)
c.516T>A (p.Asp172Glu)
c.87T>A (p.Asp29Glu)
n.557A>T
14g.104741152T>CCA267336771ADSS1c.702T>C (p.Asp234=)
c.831T>C (p.Asp277=)
c.814T>C (n.814T>C)
c.767T>C (n.767T>C)
n.1623T>C
c.705T>C (p.Asp235=)
c.834T>C (p.Asp278=)
c.519T>C (p.Asp173=)
c.516T>C (p.Asp172=)
c.87T>C (p.Asp29=)
n.557A>G
 dbSNP gnomAD v3 gnomAD v4
14g.104741152T>GCA391240471ADSS1c.702T>G (p.Asp234Glu)
c.831T>G (p.Asp277Glu)
c.814T>G (n.814T>G)
c.767T>G (n.767T>G)
n.1623T>G
c.705T>G (p.Asp235Glu)
c.834T>G (p.Asp278Glu)
c.519T>G (p.Asp173Glu)
c.516T>G (p.Asp172Glu)
c.87T>G (p.Asp29Glu)
n.557A>C
14g.104741152T=CA2160932303ADSS1c.702T= (p.Asp234=)
c.831T= (p.Asp277=)
c.814T= (n.814T=)
c.767T= (n.767T=)
n.1623T=
c.705T= (p.Asp235=)
c.834T= (p.Asp278=)
c.519T= (p.Asp173=)
c.516T= (p.Asp172=)
c.87T= (p.Asp29=)
n.557A=
14g.104741154_104741156delCA267336770ADSS1c.704_706del (p.Gly235del)
c.833_835del (p.Gly278del)
c.816_818del (n.816_818del)
c.769_771del (n.769_771del)
n.1625_1627del
c.707_709del (p.Gly236del)
c.836_838del (p.Gly279del)
c.521_523del (p.Gly174del)
c.518_520del (p.Gly173del)
c.89_91del (p.Gly30del)
n.555_557del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.104741153G>ACA7373816ADSS1c.703G>A (p.Gly235Ser)
c.832G>A (p.Gly278Ser)
c.815G>A (n.815G>A)
c.768G>A (n.768G>A)
n.1624G>A
c.706G>A (p.Gly236Ser)
c.835G>A (p.Gly279Ser)
c.520G>A (p.Gly174Ser)
c.517G>A (p.Gly173Ser)
c.88G>A (p.Gly30Ser)
n.556C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.104741153G>CCA391240476ADSS1c.703G>C (p.Gly235Arg)
c.832G>C (p.Gly278Arg)
c.815G>C (n.815G>C)
c.768G>C (n.768G>C)
n.1624G>C
c.706G>C (p.Gly236Arg)
c.835G>C (p.Gly279Arg)
c.520G>C (p.Gly174Arg)
c.517G>C (p.Gly173Arg)
c.88G>C (p.Gly30Arg)
n.556C>G
14g.104741153G=CA2160932305ADSS1c.703G= (p.Gly235=)
c.832G= (p.Gly278=)
c.815G= (n.815G=)
c.768G= (n.768G=)
n.1624G=
c.706G= (p.Gly236=)
c.835G= (p.Gly279=)
c.520G= (p.Gly174=)
c.517G= (p.Gly173=)
c.88G= (p.Gly30=)
n.556C=
14g.104741153G>TCA391240474ADSS1c.703G>T (p.Gly235Cys)
c.832G>T (p.Gly278Cys)
c.815G>T (n.815G>T)
c.768G>T (n.768G>T)
n.1624G>T
c.706G>T (p.Gly236Cys)
c.835G>T (p.Gly279Cys)
c.520G>T (p.Gly174Cys)
c.517G>T (p.Gly173Cys)
c.88G>T (p.Gly30Cys)
n.556C>A
14g.104741154delCA2626827523ADSS1c.704del (p.Gly235ValfsTer?)
c.833del (p.Gly278ValfsTer?)
c.816del (n.816del)
c.769del (n.769del)
n.1625del
c.707del (p.Gly236ValfsTer?)
c.836del (p.Gly279ValfsTer?)
c.521del (p.Gly174ValfsTer?)
c.518del (p.Gly173ValfsTer?)
c.89del (p.Gly30ValfsTer?)
n.556del
 gnomAD v4
14g.104741154G>ACA391240477ADSS1c.704G>A (p.Gly235Asp)
c.833G>A (p.Gly278Asp)
c.816G>A (n.816G>A)
c.769G>A (n.769G>A)
n.1625G>A
c.707G>A (p.Gly236Asp)
c.836G>A (p.Gly279Asp)
c.521G>A (p.Gly174Asp)
c.518G>A (p.Gly173Asp)
c.89G>A (p.Gly30Asp)
n.555C>T
14g.104741154G>CCA391240479ADSS1c.704G>C (p.Gly235Ala)
c.833G>C (p.Gly278Ala)
c.816G>C (n.816G>C)
c.769G>C (n.769G>C)
n.1625G>C
c.707G>C (p.Gly236Ala)
c.836G>C (p.Gly279Ala)
c.521G>C (p.Gly174Ala)
c.518G>C (p.Gly173Ala)
c.89G>C (p.Gly30Ala)
n.555C>G
 dbSNP gnomAD v2 gnomAD v4
14g.104741154G=CA2160932306ADSS1c.704G= (p.Gly235=)
c.833G= (p.Gly278=)
c.816G= (n.816G=)
c.769G= (n.769G=)
n.1625G=
c.707G= (p.Gly236=)
c.836G= (p.Gly279=)
c.521G= (p.Gly174=)
c.518G= (p.Gly173=)
c.89G= (p.Gly30=)
n.555C=
14g.104741154G>TCA391240481ADSS1c.704G>T (p.Gly235Val)
c.833G>T (p.Gly278Val)
c.816G>T (n.816G>T)
c.769G>T (n.769G>T)
n.1625G>T
c.707G>T (p.Gly236Val)
c.836G>T (p.Gly279Val)
c.521G>T (p.Gly174Val)
c.518G>T (p.Gly173Val)
c.89G>T (p.Gly30Val)
n.555C>A
 dbSNP gnomAD v3 gnomAD v4
14g.104741155T>ACA488457335ADSS1c.705T>A (p.Gly235=)
c.834T>A (p.Gly278=)
c.817T>A (n.817T>A)
c.770T>A (n.770T>A)
n.1626T>A
c.708T>A (p.Gly236=)
c.837T>A (p.Gly279=)
c.522T>A (p.Gly174=)
c.519T>A (p.Gly173=)
c.90T>A (p.Gly30=)
n.554A>T
14g.104741155T>CCA488457334ADSS1c.705T>C (p.Gly235=)
c.834T>C (p.Gly278=)
c.817T>C (n.817T>C)
c.770T>C (n.770T>C)
n.1626T>C
c.708T>C (p.Gly236=)
c.837T>C (p.Gly279=)
c.522T>C (p.Gly174=)
c.519T>C (p.Gly173=)
c.90T>C (p.Gly30=)
n.554A>G
14g.104741155T>GCA488457333ADSS1c.705T>G (p.Gly235=)
c.834T>G (p.Gly278=)
c.817T>G (n.817T>G)
c.770T>G (n.770T>G)
n.1626T>G
c.708T>G (p.Gly236=)
c.837T>G (p.Gly279=)
c.522T>G (p.Gly174=)
c.519T>G (p.Gly173=)
c.90T>G (p.Gly30=)
n.554A>C
 dbSNP gnomAD v2 gnomAD v4
14g.104741155T=CA2160932307ADSS1c.705T= (p.Gly235=)
c.834T= (p.Gly278=)
c.817T= (n.817T=)
c.770T= (n.770T=)
n.1626T=
c.708T= (p.Gly236=)
c.837T= (p.Gly279=)
c.522T= (p.Gly174=)
c.519T= (p.Gly173=)
c.90T= (p.Gly30=)
n.554A=
14g.104741156G>ACA391240482ADSS1c.706G>A (p.Val236Ile)
c.835G>A (p.Val279Ile)
c.818G>A (n.818G>A)
c.771G>A (n.771G>A)
n.1627G>A
c.709G>A (p.Val237Ile)
c.838G>A (p.Val280Ile)
c.523G>A (p.Val175Ile)
c.520G>A (p.Val174Ile)
c.91G>A (p.Val31Ile)
n.553C>T
14g.104741156G>CCA391240484ADSS1c.706G>C (p.Val236Leu)
c.835G>C (p.Val279Leu)
c.818G>C (n.818G>C)
c.771G>C (n.771G>C)
n.1627G>C
c.709G>C (p.Val237Leu)
c.838G>C (p.Val280Leu)
c.523G>C (p.Val175Leu)
c.520G>C (p.Val174Leu)
c.91G>C (p.Val31Leu)
n.553C>G
14g.104741156G>TCA391240485ADSS1c.706G>T (p.Val236Phe)
c.835G>T (p.Val279Phe)
c.818G>T (n.818G>T)
c.771G>T (n.771G>T)
n.1627G>T
c.709G>T (p.Val237Phe)
c.838G>T (p.Val280Phe)
c.523G>T (p.Val175Phe)
c.520G>T (p.Val174Phe)
c.91G>T (p.Val31Phe)
n.553C>A
14g.104741156_104741157delinsGTCA2160932308ADSS1c.706_707delinsGT (p.Val236=)
c.835_836delinsGT (p.Val279=)
c.818_819delinsGT (n.818_819delinsGT)
c.771_772delinsGT (n.771_772delinsGT)
n.1627_1628delinsGT
c.709_710delinsGT (p.Val237=)
c.838_839delinsGT (p.Val280=)
c.523_524delinsGT (p.Val175=)
c.520_521delinsGT (p.Val174=)
c.91_92delinsGT (p.Val31=)
n.552_553delinsAC
14g.104741156_104741161delinsGTTTACCA2160932309ADSS1c.706_711delinsGTTTAC (p.Val236=)
c.835_840delinsGTTTAC (p.Val279=)
c.818_823delinsGTTTAC (n.818_823delinsGTTTAC)
c.771_776delinsGTTTAC (n.771_776delinsGTTTAC)
n.1627_1632delinsGTTTAC
c.709_714delinsGTTTAC (p.Val237=)
c.838_843delinsGTTTAC (p.Val280=)
c.523_528delinsGTTTAC (p.Val175=)
c.520_525delinsGTTTAC (p.Val174=)
c.91_96delinsGTTTAC (p.Val31=)
n.548_553delinsGTAAAC
14g.104741157T>ACA391240486ADSS1c.707T>A (p.Val236Asp)
c.836T>A (p.Val279Asp)
c.819T>A (n.819T>A)
c.772T>A (n.772T>A)
n.1628T>A
c.710T>A (p.Val237Asp)
c.839T>A (p.Val280Asp)
c.524T>A (p.Val175Asp)
c.521T>A (p.Val174Asp)
c.92T>A (p.Val31Asp)
n.552A>T
14g.104741157T>CCA391240487ADSS1c.707T>C (p.Val236Ala)
c.836T>C (p.Val279Ala)
c.819T>C (n.819T>C)
c.772T>C (n.772T>C)
n.1628T>C
c.710T>C (p.Val237Ala)
c.839T>C (p.Val280Ala)
c.524T>C (p.Val175Ala)
c.521T>C (p.Val174Ala)
c.92T>C (p.Val31Ala)
n.552A>G
14g.104741157T>GCA391240489ADSS1c.707T>G (p.Val236Gly)
c.836T>G (p.Val279Gly)
c.819T>G (n.819T>G)
c.772T>G (n.772T>G)
n.1628T>G
c.710T>G (p.Val237Gly)
c.839T>G (p.Val280Gly)
c.524T>G (p.Val175Gly)
c.521T>G (p.Val174Gly)
c.92T>G (p.Val31Gly)
n.552A>C
14g.104741159delCA966919455ADSS1c.709del (p.Tyr237ThrfsTer?)
c.838del (p.Tyr280ThrfsTer?)
c.821del (n.821del)
c.774del (n.774del)
n.1630del
c.712del (p.Tyr238ThrfsTer?)
c.841del (p.Tyr281ThrfsTer?)
c.526del (p.Tyr176ThrfsTer?)
c.523del (p.Tyr175ThrfsTer?)
c.94del (p.Tyr32ThrfsTer?)
n.552del
 dbSNP gnomAD v3 gnomAD v4
14g.104741161_104741165delCA7373817ADSS1c.711_715del (p.Phe238ValfsTer2)
c.840_844del (p.Phe281ValfsTer2)
c.823_827del (n.823_827del)
c.776_780del (n.776_780del)
n.1632_1636del
c.714_718del (p.Phe239ValfsTer2)
c.843_847del (p.Phe282ValfsTer2)
c.528_532del (p.Phe177ValfsTer2)
c.525_529del (p.Phe176ValfsTer2)
c.96_100del (p.Phe33ValfsTer2)
n.548_552del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.104741158T>ACA488457338ADSS1c.708T>A (p.Val236=)
c.837T>A (p.Val279=)
c.820T>A (n.820T>A)
c.773T>A (n.773T>A)
n.1629T>A
c.711T>A (p.Val237=)
c.840T>A (p.Val280=)
c.525T>A (p.Val175=)
c.522T>A (p.Val174=)
c.93T>A (p.Val31=)
n.551A>T
14g.104741158T>CCA488457337ADSS1c.708T>C (p.Val236=)
c.837T>C (p.Val279=)
c.820T>C (n.820T>C)
c.773T>C (n.773T>C)
n.1629T>C
c.711T>C (p.Val237=)
c.840T>C (p.Val280=)
c.525T>C (p.Val175=)
c.522T>C (p.Val174=)
c.93T>C (p.Val31=)
n.551A>G
14g.104741158T>GCA488457336ADSS1c.708T>G (p.Val236=)
c.837T>G (p.Val279=)
c.820T>G (n.820T>G)
c.773T>G (n.773T>G)
n.1629T>G
c.711T>G (p.Val237=)
c.840T>G (p.Val280=)
c.525T>G (p.Val175=)
c.522T>G (p.Val174=)
c.93T>G (p.Val31=)
n.551A>C
14g.104741159T>ACA391240491ADSS1c.709T>A (p.Tyr237Asn)
c.838T>A (p.Tyr280Asn)
c.821T>A (n.821T>A)
c.774T>A (n.774T>A)
n.1630T>A
c.712T>A (p.Tyr238Asn)
c.841T>A (p.Tyr281Asn)
c.526T>A (p.Tyr176Asn)
c.523T>A (p.Tyr175Asn)
c.94T>A (p.Tyr32Asn)
n.550A>T
14g.104741159T>CCA7373818ADSS1c.709T>C (p.Tyr237His)
c.838T>C (p.Tyr280His)
c.821T>C (n.821T>C)
c.774T>C (n.774T>C)
n.1630T>C
c.712T>C (p.Tyr238His)
c.841T>C (p.Tyr281His)
c.526T>C (p.Tyr176His)
c.523T>C (p.Tyr175His)
c.94T>C (p.Tyr32His)
n.550A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.104741159T>GCA391240493ADSS1c.709T>G (p.Tyr237Asp)
c.838T>G (p.Tyr280Asp)
c.821T>G (n.821T>G)
c.774T>G (n.774T>G)
n.1630T>G
c.712T>G (p.Tyr238Asp)
c.841T>G (p.Tyr281Asp)
c.526T>G (p.Tyr176Asp)
c.523T>G (p.Tyr175Asp)
c.94T>G (p.Tyr32Asp)
n.550A>C
14g.104741159T=CA2160932311ADSS1c.709T= (p.Tyr237=)
c.838T= (p.Tyr280=)
c.821T= (n.821T=)
c.774T= (n.774T=)
n.1630T=
c.712T= (p.Tyr238=)
c.841T= (p.Tyr281=)
c.526T= (p.Tyr176=)
c.523T= (p.Tyr175=)
c.94T= (p.Tyr32=)
n.550A=
14g.104741160A>CCA391240497ADSS1c.710A>C (p.Tyr237Ser)
c.839A>C (p.Tyr280Ser)
c.822A>C (n.822A>C)
c.775A>C (n.775A>C)
n.1631A>C
c.713A>C (p.Tyr238Ser)
c.842A>C (p.Tyr281Ser)
c.527A>C (p.Tyr176Ser)
c.524A>C (p.Tyr175Ser)
c.95A>C (p.Tyr32Ser)
n.549T>G
14g.104741160A>GCA391240495ADSS1c.710A>G (p.Tyr237Cys)
c.839A>G (p.Tyr280Cys)
c.822A>G (n.822A>G)
c.775A>G (n.775A>G)
n.1631A>G
c.713A>G (p.Tyr238Cys)
c.842A>G (p.Tyr281Cys)
c.527A>G (p.Tyr176Cys)
c.524A>G (p.Tyr175Cys)
c.95A>G (p.Tyr32Cys)
n.549T>C
 COSMIC
14g.104741160A>TCA391240494ADSS1c.710A>T (p.Tyr237Phe)
c.839A>T (p.Tyr280Phe)
c.822A>T (n.822A>T)
c.775A>T (n.775A>T)
n.1631A>T
c.713A>T (p.Tyr238Phe)
c.842A>T (p.Tyr281Phe)
c.527A>T (p.Tyr176Phe)
c.524A>T (p.Tyr175Phe)
c.95A>T (p.Tyr32Phe)
n.549T>A
14g.104741161C>ACA391240498ADSS1c.711C>A (p.Tyr237Ter)
c.840C>A (p.Tyr280Ter)
c.823C>A (n.823C>A)
c.776C>A (n.776C>A)
n.1632C>A
c.714C>A (p.Tyr238Ter)
c.843C>A (p.Tyr281Ter)
c.528C>A (p.Tyr176Ter)
c.525C>A (p.Tyr175Ter)
c.96C>A (p.Tyr32Ter)
n.548G>T
14g.104741161C>GCA391240500ADSS1c.711C>G (p.Tyr237Ter)
c.840C>G (p.Tyr280Ter)
c.823C>G (n.823C>G)
c.776C>G (n.776C>G)
n.1632C>G
c.714C>G (p.Tyr238Ter)
c.843C>G (p.Tyr281Ter)
c.528C>G (p.Tyr176Ter)
c.525C>G (p.Tyr175Ter)
c.96C>G (p.Tyr32Ter)
n.548G>C
14g.104741161C>TCA488457339ADSS1c.711C>T (p.Tyr237=)
c.840C>T (p.Tyr280=)
c.823C>T (n.823C>T)
c.776C>T (n.776C>T)
n.1632C>T
c.714C>T (p.Tyr238=)
c.843C>T (p.Tyr281=)
c.528C>T (p.Tyr176=)
c.525C>T (p.Tyr175=)
c.96C>T (p.Tyr32=)
n.548G>A
14g.104741162T>ACA391240503ADSS1c.712T>A (p.Phe238Ile)
c.841T>A (p.Phe281Ile)
c.824T>A (n.824T>A)
c.777T>A (n.777T>A)
n.1633T>A
c.715T>A (p.Phe239Ile)
c.844T>A (p.Phe282Ile)
c.529T>A (p.Phe177Ile)
c.526T>A (p.Phe176Ile)
c.97T>A (p.Phe33Ile)
n.547A>T
14g.104741162T>CCA7373819ADSS1c.712T>C (p.Phe238Leu)
c.841T>C (p.Phe281Leu)
c.824T>C (n.824T>C)
c.777T>C (n.777T>C)
n.1633T>C
c.715T>C (p.Phe239Leu)
c.844T>C (p.Phe282Leu)
c.529T>C (p.Phe177Leu)
c.526T>C (p.Phe176Leu)
c.97T>C (p.Phe33Leu)
n.547A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.104741162T>GCA391240507ADSS1c.712T>G (p.Phe238Val)
c.841T>G (p.Phe281Val)
c.824T>G (n.824T>G)
c.777T>G (n.777T>G)
n.1633T>G
c.715T>G (p.Phe239Val)
c.844T>G (p.Phe282Val)
c.529T>G (p.Phe177Val)
c.526T>G (p.Phe176Val)
c.97T>G (p.Phe33Val)
n.547A>C
14g.104741162T=CA2160932313ADSS1c.712T= (p.Phe238=)
c.841T= (p.Phe281=)
c.824T= (n.824T=)
c.777T= (n.777T=)
n.1633T=
c.715T= (p.Phe239=)
c.844T= (p.Phe282=)
c.529T= (p.Phe177=)
c.526T= (p.Phe176=)
c.97T= (p.Phe33=)
n.547A=
14g.104741163T>ACA391240513ADSS1c.713T>A (p.Phe238Tyr)
c.842T>A (p.Phe281Tyr)
c.825T>A (n.825T>A)
c.778T>A (n.778T>A)
n.1634T>A
c.716T>A (p.Phe239Tyr)
c.845T>A (p.Phe282Tyr)
c.530T>A (p.Phe177Tyr)
c.527T>A (p.Phe176Tyr)
c.98T>A (p.Phe33Tyr)
n.546A>T
14g.104741163T>CCA391240515ADSS1c.713T>C (p.Phe238Ser)
c.842T>C (p.Phe281Ser)
c.825T>C (n.825T>C)
c.778T>C (n.778T>C)
n.1634T>C
c.716T>C (p.Phe239Ser)
c.845T>C (p.Phe282Ser)
c.530T>C (p.Phe177Ser)
c.527T>C (p.Phe176Ser)
c.98T>C (p.Phe33Ser)
n.546A>G
14g.104741163T>GCA391240517ADSS1c.713T>G (p.Phe238Cys)
c.842T>G (p.Phe281Cys)
c.825T>G (n.825T>G)
c.778T>G (n.778T>G)
n.1634T>G
c.716T>G (p.Phe239Cys)
c.845T>G (p.Phe282Cys)
c.530T>G (p.Phe177Cys)
c.527T>G (p.Phe176Cys)
c.98T>G (p.Phe33Cys)
n.546A>C
14g.104741164T>ACA391240520ADSS1c.714T>A (p.Phe238Leu)
c.843T>A (p.Phe281Leu)
c.826T>A (n.826T>A)
c.779T>A (n.779T>A)
n.1635T>A
c.717T>A (p.Phe239Leu)
c.846T>A (p.Phe282Leu)
c.531T>A (p.Phe177Leu)
c.528T>A (p.Phe176Leu)
c.99T>A (p.Phe33Leu)
n.545A>T
14g.104741164T>CCA488457340ADSS1c.714T>C (p.Phe238=)
c.843T>C (p.Phe281=)
c.826T>C (n.826T>C)
c.779T>C (n.779T>C)
n.1635T>C
c.717T>C (p.Phe239=)
c.846T>C (p.Phe282=)
c.531T>C (p.Phe177=)
c.528T>C (p.Phe176=)
c.99T>C (p.Phe33=)
n.545A>G
14g.104741164T>GCA391240521ADSS1c.714T>G (p.Phe238Leu)
c.843T>G (p.Phe281Leu)
c.826T>G (n.826T>G)
c.779T>G (n.779T>G)
n.1635T>G
c.717T>G (p.Phe239Leu)
c.846T>G (p.Phe282Leu)
c.531T>G (p.Phe177Leu)
c.528T>G (p.Phe176Leu)
c.99T>G (p.Phe33Leu)
n.545A>C
14g.104741168_104741171delCA2626827554ADSS1c.718_721del (p.Tyr240ArgfsTer30)
c.847_850del (p.Tyr283ArgfsTer30)
c.830_833del (n.830_833del)
c.783_786del (n.783_786del)
n.1639_1642del
c.721_724del (p.Tyr241ArgfsTer30)
c.850_853del (p.Tyr284ArgfsTer30)
c.535_538del (p.Tyr179ArgfsTer30)
c.532_535del (p.Tyr178ArgfsTer30)
c.103_106del (p.Tyr35ArgfsTer30)
n.542_545del
 gnomAD v4
14g.104741165A=CA2160932315ADSS1c.715A= (p.Met239=)
c.844A= (p.Met282=)
c.827A= (n.827A=)
c.780A= (n.780A=)
n.1636A=
c.718A= (p.Met240=)
c.847A= (p.Met283=)
c.532A= (p.Met178=)
c.529A= (p.Met177=)
c.100A= (p.Met34=)
n.544T=
14g.104741165A>CCA7373820ADSS1c.715A>C (p.Met239Leu)
c.844A>C (p.Met282Leu)
c.827A>C (n.827A>C)
c.780A>C (n.780A>C)
n.1636A>C
c.718A>C (p.Met240Leu)
c.847A>C (p.Met283Leu)
c.532A>C (p.Met178Leu)
c.529A>C (p.Met177Leu)
c.100A>C (p.Met34Leu)
n.544T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.104741165A>GCA391240524ADSS1c.715A>G (p.Met239Val)
c.844A>G (p.Met282Val)
c.827A>G (n.827A>G)
c.780A>G (n.780A>G)
n.1636A>G
c.718A>G (p.Met240Val)
c.847A>G (p.Met283Val)
c.532A>G (p.Met178Val)
c.529A>G (p.Met177Val)
c.100A>G (p.Met34Val)
n.544T>C
14g.104741165A>TCA391240526ADSS1c.715A>T (p.Met239Leu)
c.844A>T (p.Met282Leu)
c.827A>T (n.827A>T)
c.780A>T (n.780A>T)
n.1636A>T
c.718A>T (p.Met240Leu)
c.847A>T (p.Met283Leu)
c.532A>T (p.Met178Leu)
c.529A>T (p.Met177Leu)
c.100A>T (p.Met34Leu)
n.544T>A
 dbSNP
14g.104741166T>ACA391240529ADSS1c.716T>A (p.Met239Lys)
c.845T>A (p.Met282Lys)
c.828T>A (n.828T>A)
c.781T>A (n.781T>A)
n.1637T>A
c.719T>A (p.Met240Lys)
c.848T>A (p.Met283Lys)
c.533T>A (p.Met178Lys)
c.530T>A (p.Met177Lys)
c.101T>A (p.Met34Lys)
n.543A>T
 dbSNP
14g.104741166T>CCA7373821ADSS1c.716T>C (p.Met239Thr)
c.845T>C (p.Met282Thr)
c.828T>C (n.828T>C)
c.781T>C (n.781T>C)
n.1637T>C
c.719T>C (p.Met240Thr)
c.848T>C (p.Met283Thr)
c.533T>C (p.Met178Thr)
c.530T>C (p.Met177Thr)
c.101T>C (p.Met34Thr)
n.543A>G
 dbSNP ExAC gnomAD v2
14g.104741166T>GCA391240528ADSS1c.716T>G (p.Met239Arg)
c.845T>G (p.Met282Arg)
c.828T>G (n.828T>G)
c.781T>G (n.781T>G)
n.1637T>G
c.719T>G (p.Met240Arg)
c.848T>G (p.Met283Arg)
c.533T>G (p.Met178Arg)
c.530T>G (p.Met177Arg)
c.101T>G (p.Met34Arg)
n.543A>C
 dbSNP gnomAD v2 gnomAD v4
14g.104741166T=CA2160932317ADSS1c.716T= (p.Met239=)
c.845T= (p.Met282=)
c.828T= (n.828T=)
c.781T= (n.781T=)
n.1637T=
c.719T= (p.Met240=)
c.848T= (p.Met283=)
c.533T= (p.Met178=)
c.530T= (p.Met177=)
c.101T= (p.Met34=)
n.543A=
14g.104741167G>ACA267336777ADSS1c.717G>A (p.Met239Ile)
c.846G>A (p.Met282Ile)
c.829G>A (n.829G>A)
c.782G>A (n.782G>A)
n.1638G>A
c.720G>A (p.Met240Ile)
c.849G>A (p.Met283Ile)
c.534G>A (p.Met178Ile)
c.531G>A (p.Met177Ile)
c.102G>A (p.Met34Ile)
n.542C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.104741167G>CCA391240535ADSS1c.717G>C (p.Met239Ile)
c.846G>C (p.Met282Ile)
c.829G>C (n.829G>C)
c.782G>C (n.782G>C)
n.1638G>C
c.720G>C (p.Met240Ile)
c.849G>C (p.Met283Ile)
c.534G>C (p.Met178Ile)
c.531G>C (p.Met177Ile)
c.102G>C (p.Met34Ile)
n.542C>G
14g.104741167G=CA2160932319ADSS1c.717G= (p.Met239=)
c.846G= (p.Met282=)
c.829G= (n.829G=)
c.782G= (n.782G=)
n.1638G=
c.720G= (p.Met240=)
c.849G= (p.Met283=)
c.534G= (p.Met178=)
c.531G= (p.Met177=)
c.102G= (p.Met34=)
n.542C=
14g.104741167G>TCA391240537ADSS1c.717G>T (p.Met239Ile)
c.846G>T (p.Met282Ile)
c.829G>T (n.829G>T)
c.782G>T (n.782G>T)
n.1638G>T
c.720G>T (p.Met240Ile)
c.849G>T (p.Met283Ile)
c.534G>T (p.Met178Ile)
c.531G>T (p.Met177Ile)
c.102G>T (p.Met34Ile)
n.542C>A
14g.104741168T>ACA391240539ADSS1c.718T>A (p.Tyr240Asn)
c.847T>A (p.Tyr283Asn)
c.830T>A (n.830T>A)
c.783T>A (n.783T>A)
n.1639T>A
c.721T>A (p.Tyr241Asn)
c.850T>A (p.Tyr284Asn)
c.535T>A (p.Tyr179Asn)
c.532T>A (p.Tyr178Asn)
c.103T>A (p.Tyr35Asn)
n.541A>T
14g.104741168T>CCA391240541ADSS1c.718T>C (p.Tyr240His)
c.847T>C (p.Tyr283His)
c.830T>C (n.830T>C)
c.783T>C (n.783T>C)
n.1639T>C
c.721T>C (p.Tyr241His)
c.850T>C (p.Tyr284His)
c.535T>C (p.Tyr179His)
c.532T>C (p.Tyr178His)
c.103T>C (p.Tyr35His)
n.541A>G
14g.104741168T>GCA391240544ADSS1c.718T>G (p.Tyr240Asp)
c.847T>G (p.Tyr283Asp)
c.830T>G (n.830T>G)
c.783T>G (n.783T>G)
n.1639T>G
c.721T>G (p.Tyr241Asp)
c.850T>G (p.Tyr284Asp)
c.535T>G (p.Tyr179Asp)
c.532T>G (p.Tyr178Asp)
c.103T>G (p.Tyr35Asp)
n.541A>C
14g.104741169A=CA2160932320ADSS1c.719A= (p.Tyr240=)
c.848A= (p.Tyr283=)
c.831A= (n.831A=)
c.784A= (n.784A=)
n.1640A=
c.722A= (p.Tyr241=)
c.851A= (p.Tyr284=)
c.536A= (p.Tyr179=)
c.533A= (p.Tyr178=)
c.104A= (p.Tyr35=)
n.540T=
14g.104741169A>CCA391240547ADSS1c.719A>C (p.Tyr240Ser)
c.848A>C (p.Tyr283Ser)
c.831A>C (n.831A>C)
c.784A>C (n.784A>C)
n.1640A>C
c.722A>C (p.Tyr241Ser)
c.851A>C (p.Tyr284Ser)
c.536A>C (p.Tyr179Ser)
c.533A>C (p.Tyr178Ser)
c.104A>C (p.Tyr35Ser)
n.540T>G
14g.104741169A>GCA7373822ADSS1c.719A>G (p.Tyr240Cys)
c.848A>G (p.Tyr283Cys)
c.831A>G (n.831A>G)
c.784A>G (n.784A>G)
n.1640A>G
c.722A>G (p.Tyr241Cys)
c.851A>G (p.Tyr284Cys)
c.536A>G (p.Tyr179Cys)
c.533A>G (p.Tyr178Cys)
c.104A>G (p.Tyr35Cys)
n.540T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.104741169A>TCA391240550ADSS1c.719A>T (p.Tyr240Phe)
c.848A>T (p.Tyr283Phe)
c.831A>T (n.831A>T)
c.784A>T (n.784A>T)
n.1640A>T
c.722A>T (p.Tyr241Phe)
c.851A>T (p.Tyr284Phe)
c.536A>T (p.Tyr179Phe)
c.533A>T (p.Tyr178Phe)
c.104A>T (p.Tyr35Phe)
n.540T>A
 COSMIC
14g.104741170T>ACA391240552ADSS1c.720T>A (p.Tyr240Ter)
c.849T>A (p.Tyr283Ter)
c.832T>A (n.832T>A)
c.785T>A (n.785T>A)
n.1641T>A
c.723T>A (p.Tyr241Ter)
c.852T>A (p.Tyr284Ter)
c.537T>A (p.Tyr179Ter)
c.534T>A (p.Tyr178Ter)
c.105T>A (p.Tyr35Ter)
n.539A>T
14g.104741170T>CCA488457341ADSS1c.720T>C (p.Tyr240=)
c.849T>C (p.Tyr283=)
c.832T>C (n.832T>C)
c.785T>C (n.785T>C)
n.1641T>C
c.723T>C (p.Tyr241=)
c.852T>C (p.Tyr284=)
c.537T>C (p.Tyr179=)
c.534T>C (p.Tyr178=)
c.105T>C (p.Tyr35=)
n.539A>G
14g.104741170T>GCA391240554ADSS1c.720T>G (p.Tyr240Ter)
c.849T>G (p.Tyr283Ter)
c.832T>G (n.832T>G)
c.785T>G (n.785T>G)
n.1641T>G
c.723T>G (p.Tyr241Ter)
c.852T>G (p.Tyr284Ter)
c.537T>G (p.Tyr179Ter)
c.534T>G (p.Tyr178Ter)
c.105T>G (p.Tyr35Ter)
n.539A>C
14g.104741171G>ACA391240560ADSS1c.721G>A (p.Glu241Lys)
c.850G>A (p.Glu284Lys)
c.833G>A (n.833G>A)
c.786G>A (n.786G>A)
n.1642G>A
c.724G>A (p.Glu242Lys)
c.853G>A (p.Glu285Lys)
c.538G>A (p.Glu180Lys)
c.535G>A (p.Glu179Lys)
c.106G>A (p.Glu36Lys)
n.538C>T
14g.104741171G>CCA391240558ADSS1c.721G>C (p.Glu241Gln)
c.850G>C (p.Glu284Gln)
c.833G>C (n.833G>C)
c.786G>C (n.786G>C)
n.1642G>C
c.724G>C (p.Glu242Gln)
c.853G>C (p.Glu285Gln)
c.538G>C (p.Glu180Gln)
c.535G>C (p.Glu179Gln)
c.106G>C (p.Glu36Gln)
n.538C>G
14g.104741171G>TCA391240557ADSS1c.721G>T (p.Glu241Ter)
c.850G>T (p.Glu284Ter)
c.833G>T (n.833G>T)
c.786G>T (n.786G>T)
n.1642G>T
c.724G>T (p.Glu242Ter)
c.853G>T (p.Glu285Ter)
c.538G>T (p.Glu180Ter)
c.535G>T (p.Glu179Ter)
c.106G>T (p.Glu36Ter)
n.538C>A
14g.104741172A>CCA391240563ADSS1c.722A>C (p.Glu241Ala)
c.851A>C (p.Glu284Ala)
c.834A>C (n.834A>C)
c.787A>C (n.787A>C)
n.1643A>C
c.725A>C (p.Glu242Ala)
c.854A>C (p.Glu285Ala)
c.539A>C (p.Glu180Ala)
c.536A>C (p.Glu179Ala)
c.107A>C (p.Glu36Ala)
n.537T>G
14g.104741172A>GCA391240565ADSS1c.722A>G (p.Glu241Gly)
c.851A>G (p.Glu284Gly)
c.834A>G (n.834A>G)
c.787A>G (n.787A>G)
n.1643A>G
c.725A>G (p.Glu242Gly)
c.854A>G (p.Glu285Gly)
c.539A>G (p.Glu180Gly)
c.536A>G (p.Glu179Gly)
c.107A>G (p.Glu36Gly)
n.537T>C
14g.104741172A>TCA391240568ADSS1c.722A>T (p.Glu241Val)
c.851A>T (p.Glu284Val)
c.834A>T (n.834A>T)
c.787A>T (n.787A>T)
n.1643A>T
c.725A>T (p.Glu242Val)
c.854A>T (p.Glu285Val)
c.539A>T (p.Glu180Val)
c.536A>T (p.Glu179Val)
c.107A>T (p.Glu36Val)
n.537T>A
14g.104741173G>ACA488457342ADSS1c.723G>A (p.Glu241=)
c.852G>A (p.Glu284=)
c.835G>A (n.835G>A)
c.788G>A (n.788G>A)
n.1644G>A
c.726G>A (p.Glu242=)
c.855G>A (p.Glu285=)
c.540G>A (p.Glu180=)
c.537G>A (p.Glu179=)
c.108G>A (p.Glu36=)
n.536C>T
14g.104741173G>CCA391240569ADSS1c.723G>C (p.Glu241Asp)
c.852G>C (p.Glu284Asp)
c.835G>C (n.835G>C)
c.788G>C (n.788G>C)
n.1644G>C
c.726G>C (p.Glu242Asp)
c.855G>C (p.Glu285Asp)
c.540G>C (p.Glu180Asp)
c.537G>C (p.Glu179Asp)
c.108G>C (p.Glu36Asp)
n.536C>G
14g.104741173G>TCA391240572ADSS1c.723G>T (p.Glu241Asp)
c.852G>T (p.Glu284Asp)
c.835G>T (n.835G>T)
c.788G>T (n.788G>T)
n.1644G>T
c.726G>T (p.Glu242Asp)
c.855G>T (p.Glu285Asp)
c.540G>T (p.Glu180Asp)
c.537G>T (p.Glu179Asp)
c.108G>T (p.Glu36Asp)
n.536C>A
14g.104741174G>ACA267336778ADSS1c.724G>A (p.Ala242Thr)
c.853G>A (p.Ala285Thr)
c.836G>A (n.836G>A)
c.789G>A (n.789G>A)
n.1645G>A
c.727G>A (p.Ala243Thr)
c.856G>A (p.Ala286Thr)
c.541G>A (p.Ala181Thr)
c.538G>A (p.Ala180Thr)
c.109G>A (p.Ala37Thr)
n.535C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.104741174G>CCA391240577ADSS1c.724G>C (p.Ala242Pro)
c.853G>C (p.Ala285Pro)
c.836G>C (n.836G>C)
c.789G>C (n.789G>C)
n.1645G>C
c.727G>C (p.Ala243Pro)
c.856G>C (p.Ala286Pro)
c.541G>C (p.Ala181Pro)
c.538G>C (p.Ala180Pro)
c.109G>C (p.Ala37Pro)
n.535C>G
14g.104741174G=CA2160932321ADSS1c.724G= (p.Ala242=)
c.853G= (p.Ala285=)
c.836G= (n.836G=)
c.789G= (n.789G=)
n.1645G=
c.727G= (p.Ala243=)
c.856G= (p.Ala286=)
c.541G= (p.Ala181=)
c.538G= (p.Ala180=)
c.109G= (p.Ala37=)
n.535C=
14g.104741174G>TCA391240581ADSS1c.724G>T (p.Ala242Ser)
c.853G>T (p.Ala285Ser)
c.836G>T (n.836G>T)
c.789G>T (n.789G>T)
n.1645G>T
c.727G>T (p.Ala243Ser)
c.856G>T (p.Ala286Ser)
c.541G>T (p.Ala181Ser)
c.538G>T (p.Ala180Ser)
c.109G>T (p.Ala37Ser)
n.535C>A
14g.104741175C>ACA391240583ADSS1c.725C>A (p.Ala242Glu)
c.854C>A (p.Ala285Glu)
c.837C>A (n.837C>A)
c.790C>A (n.790C>A)
n.1646C>A
c.728C>A (p.Ala243Glu)
c.857C>A (p.Ala286Glu)
c.542C>A (p.Ala181Glu)
c.539C>A (p.Ala180Glu)
c.110C>A (p.Ala37Glu)
n.534G>T
 dbSNP
14g.104741175C=CA2160932322ADSS1c.725C= (p.Ala242=)
c.854C= (p.Ala285=)
c.837C= (n.837C=)
c.790C= (n.790C=)
n.1646C=
c.728C= (p.Ala243=)
c.857C= (p.Ala286=)
c.542C= (p.Ala181=)
c.539C= (p.Ala180=)
c.110C= (p.Ala37=)
n.534G=
14g.104741175C>GCA391240585ADSS1c.725C>G (p.Ala242Gly)
c.854C>G (p.Ala285Gly)
c.837C>G (n.837C>G)
c.790C>G (n.790C>G)
n.1646C>G
c.728C>G (p.Ala243Gly)
c.857C>G (p.Ala286Gly)
c.542C>G (p.Ala181Gly)
c.539C>G (p.Ala180Gly)
c.110C>G (p.Ala37Gly)
n.534G>C
14g.104741175C>TCA7373823ADSS1c.725C>T (p.Ala242Val)
c.854C>T (p.Ala285Val)
c.837C>T (n.837C>T)
c.790C>T (n.790C>T)
n.1646C>T
c.728C>T (p.Ala243Val)
c.857C>T (p.Ala286Val)
c.542C>T (p.Ala181Val)
c.539C>T (p.Ala180Val)
c.110C>T (p.Ala37Val)
n.534G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.104741176A>CCA488457345ADSS1c.726A>C (p.Ala242=)
c.855A>C (p.Ala285=)
c.838A>C (n.838A>C)
c.791A>C (n.791A>C)
n.1647A>C
c.729A>C (p.Ala243=)
c.858A>C (p.Ala286=)
c.543A>C (p.Ala181=)
c.540A>C (p.Ala180=)
c.111A>C (p.Ala37=)
n.533T>G
14g.104741176A>GCA488457343ADSS1c.726A>G (p.Ala242=)
c.855A>G (p.Ala285=)
c.838A>G (n.838A>G)
c.791A>G (n.791A>G)
n.1647A>G
c.729A>G (p.Ala243=)
c.858A>G (p.Ala286=)
c.543A>G (p.Ala181=)
c.540A>G (p.Ala180=)
c.111A>G (p.Ala37=)
n.533T>C
14g.104741176A>TCA488457344ADSS1c.726A>T (p.Ala242=)
c.855A>T (p.Ala285=)
c.838A>T (n.838A>T)
c.791A>T (n.791A>T)
n.1647A>T
c.729A>T (p.Ala243=)
c.858A>T (p.Ala286=)
c.543A>T (p.Ala181=)
c.540A>T (p.Ala180=)
c.111A>T (p.Ala37=)
n.533T>A
14g.104741177C>ACA391240594ADSS1c.727C>A (p.Leu243Ile)
c.856C>A (p.Leu286Ile)
c.839C>A (n.839C>A)
c.792C>A (n.792C>A)
n.1648C>A
c.730C>A (p.Leu244Ile)
c.859C>A (p.Leu287Ile)
c.544C>A (p.Leu182Ile)
c.541C>A (p.Leu181Ile)
c.112C>A (p.Leu38Ile)
n.532G>T
14g.104741177C=CA2160932323ADSS1c.727C= (p.Leu243=)
c.856C= (p.Leu286=)
c.839C= (n.839C=)
c.792C= (n.792C=)
n.1648C=
c.730C= (p.Leu244=)
c.859C= (p.Leu287=)
c.544C= (p.Leu182=)
c.541C= (p.Leu181=)
c.112C= (p.Leu38=)
n.532G=
14g.104741177C>GCA391240591ADSS1c.727C>G (p.Leu243Val)
c.856C>G (p.Leu286Val)
c.839C>G (n.839C>G)
c.792C>G (n.792C>G)
n.1648C>G
c.730C>G (p.Leu244Val)
c.859C>G (p.Leu287Val)
c.544C>G (p.Leu182Val)
c.541C>G (p.Leu181Val)
c.112C>G (p.Leu38Val)
n.532G>C
 dbSNP gnomAD v2 gnomAD v4
14g.104741177C>TCA391240589ADSS1c.727C>T (p.Leu243Phe)
c.856C>T (p.Leu286Phe)
c.839C>T (n.839C>T)
c.792C>T (n.792C>T)
n.1648C>T
c.730C>T (p.Leu244Phe)
c.859C>T (p.Leu287Phe)
c.544C>T (p.Leu182Phe)
c.541C>T (p.Leu181Phe)
c.112C>T (p.Leu38Phe)
n.532G>A
14g.104741178T>ACA391240597ADSS1c.728T>A (p.Leu243His)
c.857T>A (p.Leu286His)
c.840T>A (n.840T>A)
c.793T>A (n.793T>A)
n.1649T>A
c.731T>A (p.Leu244His)
c.860T>A (p.Leu287His)
c.545T>A (p.Leu182His)
c.542T>A (p.Leu181His)
c.113T>A (p.Leu38His)
n.531A>T
14g.104741178T>CCA391240598ADSS1c.728T>C (p.Leu243Pro)
c.857T>C (p.Leu286Pro)
c.840T>C (n.840T>C)
c.793T>C (n.793T>C)
n.1649T>C
c.731T>C (p.Leu244Pro)
c.860T>C (p.Leu287Pro)
c.545T>C (p.Leu182Pro)
c.542T>C (p.Leu181Pro)
c.113T>C (p.Leu38Pro)
n.531A>G
14g.104741178T>GCA391240600ADSS1c.728T>G (p.Leu243Arg)
c.857T>G (p.Leu286Arg)
c.840T>G (n.840T>G)
c.793T>G (n.793T>G)
n.1649T>G
c.731T>G (p.Leu244Arg)
c.860T>G (p.Leu287Arg)
c.545T>G (p.Leu182Arg)
c.542T>G (p.Leu181Arg)
c.113T>G (p.Leu38Arg)
n.531A>C
14g.104741179C>ACA7373824ADSS1c.729C>A (p.Leu243=)
c.858C>A (p.Leu286=)
c.841C>A (n.841C>A)
c.794C>A (n.794C>A)
n.1650C>A
c.732C>A (p.Leu244=)
c.861C>A (p.Leu287=)
c.546C>A (p.Leu182=)
c.543C>A (p.Leu181=)
c.114C>A (p.Leu38=)
n.530G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.104741179C=CA2160932324ADSS1c.729C= (p.Leu243=)
c.858C= (p.Leu286=)
c.841C= (n.841C=)
c.794C= (n.794C=)
n.1650C=
c.732C= (p.Leu244=)
c.861C= (p.Leu287=)
c.546C= (p.Leu182=)
c.543C= (p.Leu181=)
c.114C= (p.Leu38=)
n.530G=
14g.104741179C>GCA488457347ADSS1c.729C>G (p.Leu243=)
c.858C>G (p.Leu286=)
c.841C>G (n.841C>G)
c.794C>G (n.794C>G)
n.1650C>G
c.732C>G (p.Leu244=)
c.861C>G (p.Leu287=)
c.546C>G (p.Leu182=)
c.543C>G (p.Leu181=)
c.114C>G (p.Leu38=)
n.530G>C
14g.104741179C>TCA488457346ADSS1c.729C>T (p.Leu243=)
c.858C>T (p.Leu286=)
c.841C>T (n.841C>T)
c.794C>T (n.794C>T)
n.1650C>T
c.732C>T (p.Leu244=)
c.861C>T (p.Leu287=)
c.546C>T (p.Leu182=)
c.543C>T (p.Leu181=)
c.114C>T (p.Leu38=)
n.530G>A
14g.104741180C>ACA391240602ADSS1c.730C>A (p.His244Asn)
c.859C>A (p.His287Asn)
c.842C>A (n.842C>A)
c.795C>A (n.795C>A)
n.1651C>A
c.733C>A (p.His245Asn)
c.862C>A (p.His288Asn)
c.547C>A (p.His183Asn)
c.544C>A (p.His182Asn)
c.115C>A (p.His39Asn)
n.529G>T
14g.104741180C>GCA391240603ADSS1c.730C>G (p.His244Asp)
c.859C>G (p.His287Asp)
c.842C>G (n.842C>G)
c.795C>G (n.795C>G)
n.1651C>G
c.733C>G (p.His245Asp)
c.862C>G (p.His288Asp)
c.547C>G (p.His183Asp)
c.544C>G (p.His182Asp)
c.115C>G (p.His39Asp)
n.529G>C
14g.104741180C>TCA391240604ADSS1c.730C>T (p.His244Tyr)
c.859C>T (p.His287Tyr)
c.842C>T (n.842C>T)
c.795C>T (n.795C>T)
n.1651C>T
c.733C>T (p.His245Tyr)
c.862C>T (p.His288Tyr)
c.547C>T (p.His183Tyr)
c.544C>T (p.His182Tyr)
c.115C>T (p.His39Tyr)
n.529G>A
14g.104741181A=CA2160932326ADSS1c.731A= (p.His244=)
c.860A= (p.His287=)
c.843A= (n.843A=)
c.796A= (n.796A=)
n.1652A=
c.734A= (p.His245=)
c.863A= (p.His288=)
c.548A= (p.His183=)
c.545A= (p.His182=)
c.116A= (p.His39=)
n.528T=
14g.104741181A>CCA391240606ADSS1c.731A>C (p.His244Pro)
c.860A>C (p.His287Pro)
c.843A>C (n.843A>C)
c.796A>C (n.796A>C)
n.1652A>C
c.734A>C (p.His245Pro)
c.863A>C (p.His288Pro)
c.548A>C (p.His183Pro)
c.545A>C (p.His182Pro)
c.116A>C (p.His39Pro)
n.528T>G
14g.104741181A>GCA391240608ADSS1c.731A>G (p.His244Arg)
c.860A>G (p.His287Arg)
c.843A>G (n.843A>G)
c.796A>G (n.796A>G)
n.1652A>G
c.734A>G (p.His245Arg)
c.863A>G (p.His288Arg)
c.548A>G (p.His183Arg)
c.545A>G (p.His182Arg)
c.116A>G (p.His39Arg)
n.528T>C
 dbSNP gnomAD v3 gnomAD v4
14g.104741181A>TCA391240610ADSS1c.731A>T (p.His244Leu)
c.860A>T (p.His287Leu)
c.843A>T (n.843A>T)
c.796A>T (n.796A>T)
n.1652A>T
c.734A>T (p.His245Leu)
c.863A>T (p.His288Leu)
c.548A>T (p.His183Leu)
c.545A>T (p.His182Leu)
c.116A>T (p.His39Leu)
n.528T>A
14g.104741182C>ACA391240611ADSS1c.732C>A (p.His244Gln)
c.861C>A (p.His287Gln)
c.844C>A (n.844C>A)
c.797C>A (n.797C>A)
n.1653C>A
c.735C>A (p.His245Gln)
c.864C>A (p.His288Gln)
c.549C>A (p.His183Gln)
c.546C>A (p.His182Gln)
c.117C>A (p.His39Gln)
n.527G>T
14g.104741182C=CA2160932328ADSS1c.732C= (p.His244=)
c.861C= (p.His287=)
c.844C= (n.844C=)
c.797C= (n.797C=)
n.1653C=
c.735C= (p.His245=)
c.864C= (p.His288=)
c.549C= (p.His183=)
c.546C= (p.His182=)
c.117C= (p.His39=)
n.527G=
14g.104741182C>GCA391240613ADSS1c.732C>G (p.His244Gln)
c.861C>G (p.His287Gln)
c.844C>G (n.844C>G)
c.797C>G (n.797C>G)
n.1653C>G
c.735C>G (p.His245Gln)
c.864C>G (p.His288Gln)
c.549C>G (p.His183Gln)
c.546C>G (p.His182Gln)
c.117C>G (p.His39Gln)
n.527G>C
14g.104741182C>TCA7373825ADSS1c.732C>T (p.His244=)
c.861C>T (p.His287=)
c.844C>T (n.844C>T)
c.797C>T (n.797C>T)
n.1653C>T
c.735C>T (p.His245=)
c.864C>T (p.His288=)
c.549C>T (p.His183=)
c.546C>T (p.His182=)
c.117C>T (p.His39=)
n.527G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.104741183G>ACA7373826ADSS1c.733G>A (p.Gly245Ser)
c.862G>A (p.Gly288Ser)
c.845G>A (n.845G>A)
c.798G>A (n.798G>A)
n.1654G>A
c.736G>A (p.Gly246Ser)
c.865G>A (p.Gly289Ser)
c.550G>A (p.Gly184Ser)
c.547G>A (p.Gly183Ser)
c.118G>A (p.Gly40Ser)
n.526C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.104741183G>CCA391240619ADSS1c.733G>C (p.Gly245Arg)
c.862G>C (p.Gly288Arg)
c.845G>C (n.845G>C)
c.798G>C (n.798G>C)
n.1654G>C
c.736G>C (p.Gly246Arg)
c.865G>C (p.Gly289Arg)
c.550G>C (p.Gly184Arg)
c.547G>C (p.Gly183Arg)
c.118G>C (p.Gly40Arg)
n.526C>G
 gnomAD v4
14g.104741183G=CA2160932331ADSS1c.733G= (p.Gly245=)
c.862G= (p.Gly288=)
c.845G= (n.845G=)
c.798G= (n.798G=)
n.1654G=
c.736G= (p.Gly246=)
c.865G= (p.Gly289=)
c.550G= (p.Gly184=)
c.547G= (p.Gly183=)
c.118G= (p.Gly40=)
n.526C=
14g.104741183G>TCA391240617ADSS1c.733G>T (p.Gly245Cys)
c.862G>T (p.Gly288Cys)
c.845G>T (n.845G>T)
c.798G>T (n.798G>T)
n.1654G>T
c.736G>T (p.Gly246Cys)
c.865G>T (p.Gly289Cys)
c.550G>T (p.Gly184Cys)
c.547G>T (p.Gly183Cys)
c.118G>T (p.Gly40Cys)
n.526C>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
14g.104741184G>ACA391240623ADSS1c.734G>A (p.Gly245Asp)
c.863G>A (p.Gly288Asp)
c.846G>A (n.846G>A)
c.799G>A (n.799G>A)
n.1655G>A
c.737G>A (p.Gly246Asp)
c.866G>A (p.Gly289Asp)
c.551G>A (p.Gly184Asp)
c.548G>A (p.Gly183Asp)
c.119G>A (p.Gly40Asp)
n.525C>T
 dbSNP
14g.104741184G>CCA391240625ADSS1c.734G>C (p.Gly245Ala)
c.863G>C (p.Gly288Ala)
c.846G>C (n.846G>C)
c.799G>C (n.799G>C)
n.1655G>C
c.737G>C (p.Gly246Ala)
c.866G>C (p.Gly289Ala)
c.551G>C (p.Gly184Ala)
c.548G>C (p.Gly183Ala)
c.119G>C (p.Gly40Ala)
n.525C>G
 gnomAD v2 gnomAD v4 COSMIC
14g.104741184G=CA2160932334ADSS1c.734G= (p.Gly245=)
c.863G= (p.Gly288=)
c.846G= (n.846G=)
c.799G= (n.799G=)
n.1655G=
c.737G= (p.Gly246=)
c.866G= (p.Gly289=)
c.551G= (p.Gly184=)
c.548G= (p.Gly183=)
c.119G= (p.Gly40=)
n.525C=
14g.104741184G>TCA391240628ADSS1c.734G>T (p.Gly245Val)
c.863G>T (p.Gly288Val)
c.846G>T (n.846G>T)
c.799G>T (n.799G>T)
n.1655G>T
c.737G>T (p.Gly246Val)
c.866G>T (p.Gly289Val)
c.551G>T (p.Gly184Val)
c.548G>T (p.Gly183Val)
c.119G>T (p.Gly40Val)
n.525C>A
14g.104741184_104741185delinsGCCA2160932333ADSS1c.734_735delinsGC (p.Gly245=)
c.863_864delinsGC (p.Gly288=)
c.846_847delinsGC (n.846_847delinsGC)
c.799_800delinsGC (n.799_800delinsGC)
n.1655_1656delinsGC
c.737_738delinsGC (p.Gly246=)
c.866_867delinsGC (p.Gly289=)
c.551_552delinsGC (p.Gly184=)
c.548_549delinsGC (p.Gly183=)
c.119_120delinsGC (p.Gly40=)
n.524_525delinsGC
14g.104741185C>ACA488457349ADSS1c.735C>A (p.Gly245=)
c.864C>A (p.Gly288=)
c.847C>A (n.847C>A)
c.800C>A (n.800C>A)
n.1656C>A
c.738C>A (p.Gly246=)
c.867C>A (p.Gly289=)
c.552C>A (p.Gly184=)
c.549C>A (p.Gly183=)
c.120C>A (p.Gly40=)
n.524G>T
14g.104741185C=CA2160932341ADSS1c.735C= (p.Gly245=)
c.864C= (p.Gly288=)
c.847C= (n.847C=)
c.800C= (n.800C=)
n.1656C=
c.738C= (p.Gly246=)
c.867C= (p.Gly289=)
c.552C= (p.Gly184=)
c.549C= (p.Gly183=)
c.120C= (p.Gly40=)
n.524G=
14g.104741185C>GCA488457350ADSS1c.735C>G (p.Gly245=)
c.864C>G (p.Gly288=)
c.847C>G (n.847C>G)
c.800C>G (n.800C>G)
n.1656C>G
c.738C>G (p.Gly246=)
c.867C>G (p.Gly289=)
c.552C>G (p.Gly184=)
c.549C>G (p.Gly183=)
c.120C>G (p.Gly40=)
n.524G>C
14g.104741185C>TCA488457348ADSS1c.735C>T (p.Gly245=)
c.864C>T (p.Gly288=)
c.847C>T (n.847C>T)
c.800C>T (n.800C>T)
n.1656C>T
c.738C>T (p.Gly246=)
c.867C>T (p.Gly289=)
c.552C>T (p.Gly184=)
c.549C>T (p.Gly183=)
c.120C>T (p.Gly40=)
n.524G>A
 dbSNP gnomAD v2 gnomAD v4
14g.104741191dupCA7373827ADSS1c.741dup (p.Lys248GlnfsTer16)
c.870dup (p.Lys291GlnfsTer16)
c.853dup (n.853dup)
c.806dup (n.806dup)
n.1662dup
c.744dup (p.Lys249GlnfsTer16)
c.873dup (p.Lys292GlnfsTer16)
c.558dup (p.Lys187GlnfsTer16)
c.555dup (p.Lys186GlnfsTer16)
c.126dup (p.Lys43GlnfsTer16)
n.524dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.104741190_104741191dupCA2626827619ADSS1c.740_741dup (p.Lys248ProfsTer24)
c.869_870dup (p.Lys291ProfsTer24)
c.852_853dup (n.852_853dup)
c.805_806dup (n.805_806dup)
n.1661_1662dup
c.743_744dup (p.Lys249ProfsTer24)
c.872_873dup (p.Lys292ProfsTer24)
c.557_558dup (p.Lys187ProfsTer24)
c.554_555dup (p.Lys186ProfsTer24)
c.125_126dup (p.Lys43ProfsTer24)
n.523_524dup
 gnomAD v4
14g.104741191delCA7373828ADSS1c.741del (p.Lys248ArgfsTer23)
c.870del (p.Lys291ArgfsTer23)
c.853del (n.853del)
c.806del (n.806del)
n.1662del
c.744del (p.Lys249ArgfsTer23)
c.873del (p.Lys292ArgfsTer23)
c.558del (p.Lys187ArgfsTer23)
c.555del (p.Lys186ArgfsTer23)
c.126del (p.Lys43ArgfsTer23)
n.524del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.104741186C>ACA391240632ADSS1c.736C>A (p.Pro246Thr)
c.865C>A (p.Pro289Thr)
c.848C>A (n.848C>A)
c.801C>A (n.801C>A)
n.1657C>A
c.739C>A (p.Pro247Thr)
c.868C>A (p.Pro290Thr)
c.553C>A (p.Pro185Thr)
c.550C>A (p.Pro184Thr)
c.121C>A (p.Pro41Thr)
n.523G>T
 dbSNP gnomAD v4
14g.104741186C=CA2160932343ADSS1c.736C= (p.Pro246=)
c.865C= (p.Pro289=)
c.848C= (n.848C=)
c.801C= (n.801C=)
n.1657C=
c.739C= (p.Pro247=)
c.868C= (p.Pro290=)
c.553C= (p.Pro185=)
c.550C= (p.Pro184=)
c.121C= (p.Pro41=)
n.523G=
14g.104741186C>GCA7373829ADSS1c.736C>G (p.Pro246Ala)
c.865C>G (p.Pro289Ala)
c.848C>G (n.848C>G)
c.801C>G (n.801C>G)
n.1657C>G
c.739C>G (p.Pro247Ala)
c.868C>G (p.Pro290Ala)
c.553C>G (p.Pro185Ala)
c.550C>G (p.Pro184Ala)
c.121C>G (p.Pro41Ala)
n.523G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.104741186C>TCA391240633ADSS1c.736C>T (p.Pro246Ser)
c.865C>T (p.Pro289Ser)
c.848C>T (n.848C>T)
c.801C>T (n.801C>T)
n.1657C>T
c.739C>T (p.Pro247Ser)
c.868C>T (p.Pro290Ser)
c.553C>T (p.Pro185Ser)
c.550C>T (p.Pro184Ser)
c.121C>T (p.Pro41Ser)
n.523G>A
 gnomAD v4
14g.104741187C>ACA391240636ADSS1c.737C>A (p.Pro246His)
c.866C>A (p.Pro289His)
c.849C>A (n.849C>A)
c.802C>A (n.802C>A)
n.1658C>A
c.740C>A (p.Pro247His)
c.869C>A (p.Pro290His)
c.554C>A (p.Pro185His)
c.551C>A (p.Pro184His)
c.122C>A (p.Pro41His)
n.522G>T
 dbSNP gnomAD v2 gnomAD v4
14g.104741187C=CA2160932345ADSS1c.737C= (p.Pro246=)
c.866C= (p.Pro289=)
c.849C= (n.849C=)
c.802C= (n.802C=)
n.1658C=
c.740C= (p.Pro247=)
c.869C= (p.Pro290=)
c.554C= (p.Pro185=)
c.551C= (p.Pro184=)
c.122C= (p.Pro41=)
n.522G=
14g.104741187C>GCA391240638ADSS1c.737C>G (p.Pro246Arg)
c.866C>G (p.Pro289Arg)
c.849C>G (n.849C>G)
c.802C>G (n.802C>G)
n.1658C>G
c.740C>G (p.Pro247Arg)
c.869C>G (p.Pro290Arg)
c.554C>G (p.Pro185Arg)
c.551C>G (p.Pro184Arg)
c.122C>G (p.Pro41Arg)
n.522G>C
 gnomAD v4
14g.104741187C>TCA391240639ADSS1c.737C>T (p.Pro246Leu)
c.866C>T (p.Pro289Leu)
c.849C>T (n.849C>T)
c.802C>T (n.802C>T)
n.1658C>T
c.740C>T (p.Pro247Leu)
c.869C>T (p.Pro290Leu)
c.554C>T (p.Pro185Leu)
c.551C>T (p.Pro184Leu)
c.122C>T (p.Pro41Leu)
n.522G>A
 gnomAD v4
14g.104741188C>ACA488457353ADSS1c.738C>A (p.Pro246=)
c.867C>A (p.Pro289=)
c.850C>A (n.850C>A)
c.803C>A (n.803C>A)
n.1659C>A
c.741C>A (p.Pro247=)
c.870C>A (p.Pro290=)
c.555C>A (p.Pro185=)
c.552C>A (p.Pro184=)
c.123C>A (p.Pro41=)
n.521G>T
14g.104741188C>GCA488457352ADSS1c.738C>G (p.Pro246=)
c.867C>G (p.Pro289=)
c.850C>G (n.850C>G)
c.803C>G (n.803C>G)
n.1659C>G
c.741C>G (p.Pro247=)
c.870C>G (p.Pro290=)
c.555C>G (p.Pro185=)
c.552C>G (p.Pro184=)
c.123C>G (p.Pro41=)
n.521G>C
14g.104741188C>TCA488457351ADSS1c.738C>T (p.Pro246=)
c.867C>T (p.Pro289=)
c.850C>T (n.850C>T)
c.803C>T (n.803C>T)
n.1659C>T
c.741C>T (p.Pro247=)
c.870C>T (p.Pro290=)
c.555C>T (p.Pro185=)
c.552C>T (p.Pro184=)
c.123C>T (p.Pro41=)
n.521G>A
14g.104741189C>ACA391240642ADSS1c.739C>A (p.Pro247Thr)
c.868C>A (p.Pro290Thr)
c.851C>A (n.851C>A)
c.804C>A (n.804C>A)
n.1660C>A
c.742C>A (p.Pro248Thr)
c.871C>A (p.Pro291Thr)
c.556C>A (p.Pro186Thr)
c.553C>A (p.Pro185Thr)
c.124C>A (p.Pro42Thr)
n.520G>T
 gnomAD v4
14g.104741189C>GCA391240644ADSS1c.739C>G (p.Pro247Ala)
c.868C>G (p.Pro290Ala)
c.851C>G (n.851C>G)
c.804C>G (n.804C>G)
n.1660C>G
c.742C>G (p.Pro248Ala)
c.871C>G (p.Pro291Ala)
c.556C>G (p.Pro186Ala)
c.553C>G (p.Pro185Ala)
c.124C>G (p.Pro42Ala)
n.520G>C
14g.104741189C>TCA391240647ADSS1c.739C>T (p.Pro247Ser)
c.868C>T (p.Pro290Ser)
c.851C>T (n.851C>T)
c.804C>T (n.804C>T)
n.1660C>T
c.742C>T (p.Pro248Ser)
c.871C>T (p.Pro291Ser)
c.556C>T (p.Pro186Ser)
c.553C>T (p.Pro185Ser)
c.124C>T (p.Pro42Ser)
n.520G>A
 gnomAD v4
14g.104741190C>ACA7373831ADSS1c.740C>A (p.Pro247His)
c.869C>A (p.Pro290His)
c.852C>A (n.852C>A)
c.805C>A (n.805C>A)
n.1661C>A
c.743C>A (p.Pro248His)
c.872C>A (p.Pro291His)
c.557C>A (p.Pro186His)
c.554C>A (p.Pro185His)
c.125C>A (p.Pro42His)
n.519G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.104741190C=CA2160932346ADSS1c.740C= (p.Pro247=)
c.869C= (p.Pro290=)
c.852C= (n.852C=)
c.805C= (n.805C=)
n.1661C=
c.743C= (p.Pro248=)
c.872C= (p.Pro291=)
c.557C= (p.Pro186=)
c.554C= (p.Pro185=)
c.125C= (p.Pro42=)
n.519G=
14g.104741190C>GCA7373830ADSS1c.740C>G (p.Pro247Arg)
c.869C>G (p.Pro290Arg)
c.852C>G (n.852C>G)
c.805C>G (n.805C>G)
n.1661C>G
c.743C>G (p.Pro248Arg)
c.872C>G (p.Pro291Arg)
c.557C>G (p.Pro186Arg)
c.554C>G (p.Pro185Arg)
c.125C>G (p.Pro42Arg)
n.519G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.104741190C>TCA7373832ADSS1c.740C>T (p.Pro247Leu)
c.869C>T (p.Pro290Leu)
c.852C>T (n.852C>T)
c.805C>T (n.805C>T)
n.1661C>T
c.743C>T (p.Pro248Leu)
c.872C>T (p.Pro291Leu)
c.557C>T (p.Pro186Leu)
c.554C>T (p.Pro185Leu)
c.125C>T (p.Pro42Leu)
n.519G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.104741191C>ACA488457354ADSS1c.741C>A (p.Pro247=)
c.870C>A (p.Pro290=)
c.853C>A (n.853C>A)
c.806C>A (n.806C>A)
n.1662C>A
c.744C>A (p.Pro248=)
c.873C>A (p.Pro291=)
c.558C>A (p.Pro186=)
c.555C>A (p.Pro185=)
c.126C>A (p.Pro42=)
n.518G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.104741191C=CA2160932349ADSS1c.741C= (p.Pro247=)
c.870C= (p.Pro290=)
c.853C= (n.853C=)
c.806C= (n.806C=)
n.1662C=
c.744C= (p.Pro248=)
c.873C= (p.Pro291=)
c.558C= (p.Pro186=)
c.555C= (p.Pro185=)
c.126C= (p.Pro42=)
n.518G=
14g.104741191C>GCA7373833ADSS1c.741C>G (p.Pro247=)
c.870C>G (p.Pro290=)
c.853C>G (n.853C>G)
c.806C>G (n.806C>G)
n.1662C>G
c.744C>G (p.Pro248=)
c.873C>G (p.Pro291=)
c.558C>G (p.Pro186=)
c.555C>G (p.Pro185=)
c.126C>G (p.Pro42=)
n.518G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.104741191C>TCA488457355ADSS1c.741C>T (p.Pro247=)
c.870C>T (p.Pro290=)
c.853C>T (n.853C>T)
c.806C>T (n.806C>T)
n.1662C>T
c.744C>T (p.Pro248=)
c.873C>T (p.Pro291=)
c.558C>T (p.Pro186=)
c.555C>T (p.Pro185=)
c.126C>T (p.Pro42=)
n.518G>A
 gnomAD v4
14g.104741192A>CCA391240652ADSS1c.742A>C (p.Lys248Gln)
c.871A>C (p.Lys291Gln)
c.854A>C (n.854A>C)
c.807A>C (n.807A>C)
n.1663A>C
c.745A>C (p.Lys249Gln)
c.874A>C (p.Lys292Gln)
c.559A>C (p.Lys187Gln)
c.556A>C (p.Lys186Gln)
c.127A>C (p.Lys43Gln)
n.517T>G
14g.104741192A>GCA391240654ADSS1c.742A>G (p.Lys248Glu)
c.871A>G (p.Lys291Glu)
c.854A>G (n.854A>G)
c.807A>G (n.807A>G)
n.1663A>G
c.745A>G (p.Lys249Glu)
c.874A>G (p.Lys292Glu)
c.559A>G (p.Lys187Glu)
c.556A>G (p.Lys186Glu)
c.127A>G (p.Lys43Glu)
n.517T>C
14g.104741192A>TCA391240655ADSS1c.742A>T (p.Lys248Ter)
c.871A>T (p.Lys291Ter)
c.854A>T (n.854A>T)
c.807A>T (n.807A>T)
n.1663A>T
c.745A>T (p.Lys249Ter)
c.874A>T (p.Lys292Ter)
c.559A>T (p.Lys187Ter)
c.556A>T (p.Lys186Ter)
c.127A>T (p.Lys43Ter)
n.517T>A
14g.104741193A>CCA391240656ADSS1c.743A>C (p.Lys248Thr)
c.872A>C (p.Lys291Thr)
c.855A>C (n.855A>C)
c.808A>C (n.808A>C)
n.1664A>C
c.746A>C (p.Lys249Thr)
c.875A>C (p.Lys292Thr)
c.560A>C (p.Lys187Thr)
c.557A>C (p.Lys186Thr)
c.128A>C (p.Lys43Thr)
n.516T>G
14g.104741193A>GCA391240658ADSS1c.743A>G (p.Lys248Arg)
c.872A>G (p.Lys291Arg)
c.855A>G (n.855A>G)
c.808A>G (n.808A>G)
n.1664A>G
c.746A>G (p.Lys249Arg)
c.875A>G (p.Lys292Arg)
c.560A>G (p.Lys187Arg)
c.557A>G (p.Lys186Arg)
c.128A>G (p.Lys43Arg)
n.516T>C
14g.104741193A>TCA391240660ADSS1c.743A>T (p.Lys248Met)
c.872A>T (p.Lys291Met)
c.855A>T (n.855A>T)
c.808A>T (n.808A>T)
n.1664A>T
c.746A>T (p.Lys249Met)
c.875A>T (p.Lys292Met)
c.560A>T (p.Lys187Met)
c.557A>T (p.Lys186Met)
c.128A>T (p.Lys43Met)
n.516T>A
14g.104741194G>ACA488457356ADSS1c.744G>A (p.Lys248=)
c.873G>A (p.Lys291=)
c.856G>A (n.856G>A)
c.809G>A (n.809G>A)
n.1665G>A
c.747G>A (p.Lys249=)
c.876G>A (p.Lys292=)
c.561G>A (p.Lys187=)
c.558G>A (p.Lys186=)
c.129G>A (p.Lys43=)
n.515C>T
14g.104741194G>CCA391240662ADSS1c.744G>C (p.Lys248Asn)
c.873G>C (p.Lys291Asn)
c.856G>C (n.856G>C)
c.809G>C (n.809G>C)
n.1665G>C
c.747G>C (p.Lys249Asn)
c.876G>C (p.Lys292Asn)
c.561G>C (p.Lys187Asn)
c.558G>C (p.Lys186Asn)
c.129G>C (p.Lys43Asn)
n.515C>G
14g.104741194G>TCA391240665ADSS1c.744G>T (p.Lys248Asn)
c.873G>T (p.Lys291Asn)
c.856G>T (n.856G>T)
c.809G>T (n.809G>T)
n.1665G>T
c.747G>T (p.Lys249Asn)
c.876G>T (p.Lys292Asn)
c.561G>T (p.Lys187Asn)
c.558G>T (p.Lys186Asn)
c.129G>T (p.Lys43Asn)
n.515C>A
14g.104741195A>CCA391240666ADSS1c.745A>C (p.Lys249Gln)
c.874A>C (p.Lys292Gln)
c.857A>C (n.857A>C)
c.810A>C (n.810A>C)
n.1666A>C
c.748A>C (p.Lys250Gln)
c.877A>C (p.Lys293Gln)
c.562A>C (p.Lys188Gln)
c.559A>C (p.Lys187Gln)
c.130A>C (p.Lys44Gln)
n.514T>G
14g.104741195A>GCA391240667ADSS1c.745A>G (p.Lys249Glu)
c.874A>G (p.Lys292Glu)
c.857A>G (n.857A>G)
c.810A>G (n.810A>G)
n.1666A>G
c.748A>G (p.Lys250Glu)
c.877A>G (p.Lys293Glu)
c.562A>G (p.Lys188Glu)
c.559A>G (p.Lys187Glu)
c.130A>G (p.Lys44Glu)
n.514T>C
14g.104741195A>TCA391240668ADSS1c.745A>T (p.Lys249Ter)
c.874A>T (p.Lys292Ter)
c.857A>T (n.857A>T)
c.810A>T (n.810A>T)
n.1666A>T
c.748A>T (p.Lys250Ter)
c.877A>T (p.Lys293Ter)
c.562A>T (p.Lys188Ter)
c.559A>T (p.Lys187Ter)
c.130A>T (p.Lys44Ter)
n.514T>A
14g.104741195_104741205delinsAAGATCCTGGTCA2160932351ADSS1c.745_755delinsAAGATCCTGGT (p.Lys249=)
c.874_884delinsAAGATCCTGGT (p.Lys292=)
c.857_867delinsAAGATCCTGGT (n.857_867delinsAAGATCCTGGT)
c.810_820delinsAAGATCCTGGT (n.810_820delinsAAGATCCTGGT)
n.1666_1676delinsAAGATCCTGGT
c.748_758delinsAAGATCCTGGT (p.Lys250=)
c.877_887delinsAAGATCCTGGT (p.Lys293=)
c.562_572delinsAAGATCCTGGT (p.Lys188=)
c.559_569delinsAAGATCCTGGT (p.Lys187=)
c.130_140delinsAAGATCCTGGT (p.Lys44=)
n.504_514delinsACCAGGATCTT
14g.104741196A>CCA391240675ADSS1c.746A>C (p.Lys249Thr)
c.875A>C (p.Lys292Thr)
c.858A>C (n.858A>C)
c.811A>C (n.811A>C)
n.1667A>C
c.749A>C (p.Lys250Thr)
c.878A>C (p.Lys293Thr)
c.563A>C (p.Lys188Thr)
c.560A>C (p.Lys187Thr)
c.131A>C (p.Lys44Thr)
n.513T>G
14g.104741196A>GCA391240671ADSS1c.746A>G (p.Lys249Arg)
c.875A>G (p.Lys292Arg)
c.858A>G (n.858A>G)
c.811A>G (n.811A>G)
n.1667A>G
c.749A>G (p.Lys250Arg)
c.878A>G (p.Lys293Arg)
c.563A>G (p.Lys188Arg)
c.560A>G (p.Lys187Arg)
c.131A>G (p.Lys44Arg)
n.513T>C
14g.104741196A>TCA391240672ADSS1c.746A>T (p.Lys249Met)
c.875A>T (p.Lys292Met)
c.858A>T (n.858A>T)
c.811A>T (n.811A>T)
n.1667A>T
c.749A>T (p.Lys250Met)
c.878A>T (p.Lys293Met)
c.563A>T (p.Lys188Met)
c.560A>T (p.Lys187Met)
c.131A>T (p.Lys44Met)
n.513T>A
14g.104741196_104741205delCA488457357ADSS1c.746_755del (p.Lys249ArgfsTer19)
c.875_884del (p.Lys292ArgfsTer19)
c.858_867del (n.858_867del)
c.811_820del (n.811_820del)
n.1667_1676del
c.749_758del (p.Lys250ArgfsTer19)
c.878_887del (p.Lys293ArgfsTer19)
c.563_572del (p.Lys188ArgfsTer19)
c.560_569del (p.Lys187ArgfsTer19)
c.131_140del (p.Lys44ArgfsTer19)
n.504_513del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.104741197G>ACA488457358ADSS1c.747G>A (p.Lys249=)
c.876G>A (p.Lys292=)
c.859G>A (n.859G>A)
c.812G>A (n.812G>A)
n.1668G>A
c.750G>A (p.Lys250=)
c.879G>A (p.Lys293=)
c.564G>A (p.Lys188=)
c.561G>A (p.Lys187=)
c.132G>A (p.Lys44=)
n.512C>T
14g.104741197G>CCA391240677ADSS1c.747G>C (p.Lys249Asn)
c.876G>C (p.Lys292Asn)
c.859G>C (n.859G>C)
c.812G>C (n.812G>C)
n.1668G>C
c.750G>C (p.Lys250Asn)
c.879G>C (p.Lys293Asn)
c.564G>C (p.Lys188Asn)
c.561G>C (p.Lys187Asn)
c.132G>C (p.Lys44Asn)
n.512C>G
 gnomAD v4
14g.104741197G>TCA391240678ADSS1c.747G>T (p.Lys249Asn)
c.876G>T (p.Lys292Asn)
c.859G>T (n.859G>T)
c.812G>T (n.812G>T)
n.1668G>T
c.750G>T (p.Lys250Asn)
c.879G>T (p.Lys293Asn)
c.564G>T (p.Lys188Asn)
c.561G>T (p.Lys187Asn)
c.132G>T (p.Lys44Asn)
n.512C>A
14g.104741198A>CCA391240679ADSS1c.748A>C (p.Ile250Leu)
c.877A>C (p.Ile293Leu)
c.860A>C (n.860A>C)
c.813A>C (n.813A>C)
n.1669A>C
c.751A>C (p.Ile251Leu)
c.880A>C (p.Ile294Leu)
c.565A>C (p.Ile189Leu)
c.562A>C (p.Ile188Leu)
c.133A>C (p.Ile45Leu)
n.511T>G
14g.104741198A>GCA391240680ADSS1c.748A>G (p.Ile250Val)
c.877A>G (p.Ile293Val)
c.860A>G (n.860A>G)
c.813A>G (n.813A>G)
n.1669A>G
c.751A>G (p.Ile251Val)
c.880A>G (p.Ile294Val)
c.565A>G (p.Ile189Val)
c.562A>G (p.Ile188Val)
c.133A>G (p.Ile45Val)
n.511T>C
14g.104741198A>TCA391240683ADSS1c.748A>T (p.Ile250Phe)
c.877A>T (p.Ile293Phe)
c.860A>T (n.860A>T)
c.813A>T (n.813A>T)
n.1669A>T
c.751A>T (p.Ile251Phe)
c.880A>T (p.Ile294Phe)
c.565A>T (p.Ile189Phe)
c.562A>T (p.Ile188Phe)
c.133A>T (p.Ile45Phe)
n.511T>A
 gnomAD v4
14g.104741199T>ACA391240685ADSS1c.749T>A (p.Ile250Asn)
c.878T>A (p.Ile293Asn)
c.861T>A (n.861T>A)
c.814T>A (n.814T>A)
n.1670T>A
c.752T>A (p.Ile251Asn)
c.881T>A (p.Ile294Asn)
c.566T>A (p.Ile189Asn)
c.563T>A (p.Ile188Asn)
c.134T>A (p.Ile45Asn)
n.510A>T
14g.104741199T>CCA391240687ADSS1c.749T>C (p.Ile250Thr)
c.878T>C (p.Ile293Thr)
c.861T>C (n.861T>C)
c.814T>C (n.814T>C)
n.1670T>C
c.752T>C (p.Ile251Thr)
c.881T>C (p.Ile294Thr)
c.566T>C (p.Ile189Thr)
c.563T>C (p.Ile188Thr)
c.134T>C (p.Ile45Thr)
n.510A>G
 gnomAD v4
14g.104741199T>GCA391240689ADSS1c.749T>G (p.Ile250Ser)
c.878T>G (p.Ile293Ser)
c.861T>G (n.861T>G)
c.814T>G (n.814T>G)
n.1670T>G
c.752T>G (p.Ile251Ser)
c.881T>G (p.Ile294Ser)
c.566T>G (p.Ile189Ser)
c.563T>G (p.Ile188Ser)
c.134T>G (p.Ile45Ser)
n.510A>C
14g.104741200C>ACA488457360ADSS1c.750C>A (p.Ile250=)
c.879C>A (p.Ile293=)
c.862C>A (n.862C>A)
c.815C>A (n.815C>A)
n.1671C>A
c.753C>A (p.Ile251=)
c.882C>A (p.Ile294=)
c.567C>A (p.Ile189=)
c.564C>A (p.Ile188=)
c.135C>A (p.Ile45=)
n.509G>T
 gnomAD v4
14g.104741200C=CA2160932355ADSS1c.750C= (p.Ile250=)
c.879C= (p.Ile293=)
c.862C= (n.862C=)
c.815C= (n.815C=)
n.1671C=
c.753C= (p.Ile251=)
c.882C= (p.Ile294=)
c.567C= (p.Ile189=)
c.564C= (p.Ile188=)
c.135C= (p.Ile45=)
n.509G=
14g.104741200C>GCA391240690ADSS1c.750C>G (p.Ile250Met)
c.879C>G (p.Ile293Met)
c.862C>G (n.862C>G)
c.815C>G (n.815C>G)
n.1671C>G
c.753C>G (p.Ile251Met)
c.882C>G (p.Ile294Met)
c.567C>G (p.Ile189Met)
c.564C>G (p.Ile188Met)
c.135C>G (p.Ile45Met)
n.509G>C
 ClinVar dbSNP gnomAD v4
14g.104741200C>TCA488457359ADSS1c.750C>T (p.Ile250=)
c.879C>T (p.Ile293=)
c.862C>T (n.862C>T)
c.815C>T (n.815C>T)
n.1671C>T
c.753C>T (p.Ile251=)
c.882C>T (p.Ile294=)
c.567C>T (p.Ile189=)
c.564C>T (p.Ile188=)
c.135C>T (p.Ile45=)
n.509G>A
14g.104741201delCA2626827702ADSS1c.751del (p.Leu251TrpfsTer20)
c.880del (p.Leu294TrpfsTer20)
c.863del (n.863del)
c.816del (n.816del)
n.1672del
c.754del (p.Leu252TrpfsTer20)
c.883del (p.Leu295TrpfsTer20)
c.568del (p.Leu190TrpfsTer20)
c.565del (p.Leu189TrpfsTer20)
c.136del (p.Leu46TrpfsTer20)
n.509del
 gnomAD v4
14g.104741201C>ACA391240693ADSS1c.751C>A (p.Leu251Met)
c.880C>A (p.Leu294Met)
c.863C>A (n.863C>A)
c.816C>A (n.816C>A)
n.1672C>A
c.754C>A (p.Leu252Met)
c.883C>A (p.Leu295Met)
c.568C>A (p.Leu190Met)
c.565C>A (p.Leu189Met)
c.136C>A (p.Leu46Met)
n.508G>T
14g.104741201C=CA2160932359ADSS1c.751C= (p.Leu251=)
c.880C= (p.Leu294=)
c.863C= (n.863C=)
c.816C= (n.816C=)
n.1672C=
c.754C= (p.Leu252=)
c.883C= (p.Leu295=)
c.568C= (p.Leu190=)
c.565C= (p.Leu189=)
c.136C= (p.Leu46=)
n.508G=
14g.104741201C>GCA7373834ADSS1c.751C>G (p.Leu251Val)
c.880C>G (p.Leu294Val)
c.863C>G (n.863C>G)
c.816C>G (n.816C>G)
n.1672C>G
c.754C>G (p.Leu252Val)
c.883C>G (p.Leu295Val)
c.568C>G (p.Leu190Val)
c.565C>G (p.Leu189Val)
c.136C>G (p.Leu46Val)
n.508G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.104741201C>TCA488457361ADSS1c.751C>T (p.Leu251=)
c.880C>T (p.Leu294=)
c.863C>T (n.863C>T)
c.816C>T (n.816C>T)
n.1672C>T
c.754C>T (p.Leu252=)
c.883C>T (p.Leu295=)
c.568C>T (p.Leu190=)
c.565C>T (p.Leu189=)
c.136C>T (p.Leu46=)
n.508G>A
 dbSNP
14g.104741202T>ACA391240699ADSS1c.752T>A (p.Leu251Gln)
c.881T>A (p.Leu294Gln)
c.864T>A (n.864T>A)
c.817T>A (n.817T>A)
n.1673T>A
c.755T>A (p.Leu252Gln)
c.884T>A (p.Leu295Gln)
c.569T>A (p.Leu190Gln)
c.566T>A (p.Leu189Gln)
c.137T>A (p.Leu46Gln)
n.507A>T
14g.104741202T>CCA391240698ADSS1c.752T>C (p.Leu251Pro)
c.881T>C (p.Leu294Pro)
c.864T>C (n.864T>C)
c.817T>C (n.817T>C)
n.1673T>C
c.755T>C (p.Leu252Pro)
c.884T>C (p.Leu295Pro)
c.569T>C (p.Leu190Pro)
c.566T>C (p.Leu189Pro)
c.137T>C (p.Leu46Pro)
n.507A>G
14g.104741202T>GCA391240696ADSS1c.752T>G (p.Leu251Arg)
c.881T>G (p.Leu294Arg)
c.864T>G (n.864T>G)
c.817T>G (n.817T>G)
n.1673T>G
c.755T>G (p.Leu252Arg)
c.884T>G (p.Leu295Arg)
c.569T>G (p.Leu190Arg)
c.566T>G (p.Leu189Arg)
c.137T>G (p.Leu46Arg)
n.507A>C
14g.104741203G>ACA488457362ADSS1c.753G>A (p.Leu251=)
c.882G>A (p.Leu294=)
c.865G>A (n.865G>A)
c.818G>A (n.818G>A)
n.1674G>A
c.756G>A (p.Leu252=)
c.885G>A (p.Leu295=)
c.570G>A (p.Leu190=)
c.567G>A (p.Leu189=)
c.138G>A (p.Leu46=)
n.506C>T
14g.104741203G>CCA488457363ADSS1c.753G>C (p.Leu251=)
c.882G>C (p.Leu294=)
c.865G>C (n.865G>C)
c.818G>C (n.818G>C)
n.1674G>C
c.756G>C (p.Leu252=)
c.885G>C (p.Leu295=)
c.570G>C (p.Leu190=)
c.567G>C (p.Leu189=)
c.138G>C (p.Leu46=)
n.506C>G
 dbSNP gnomAD v4
14g.104741203G=CA2160932362ADSS1c.753G= (p.Leu251=)
c.882G= (p.Leu294=)
c.865G= (n.865G=)
c.818G= (n.818G=)
n.1674G=
c.756G= (p.Leu252=)
c.885G= (p.Leu295=)
c.570G= (p.Leu190=)
c.567G= (p.Leu189=)
c.138G= (p.Leu46=)
n.506C=
14g.104741203G>TCA488457364ADSS1c.753G>T (p.Leu251=)
c.882G>T (p.Leu294=)
c.865G>T (n.865G>T)
c.818G>T (n.818G>T)
n.1674G>T
c.756G>T (p.Leu252=)
c.885G>T (p.Leu295=)
c.570G>T (p.Leu190=)
c.567G>T (p.Leu189=)
c.138G>T (p.Leu46=)
n.506C>A
14g.104741204G>ACA7373835ADSS1c.754G>A (p.Val252Met)
c.883G>A (p.Val295Met)
c.866G>A (n.866G>A)
c.819G>A (n.819G>A)
n.1675G>A
c.757G>A (p.Val253Met)
c.886G>A (p.Val296Met)
c.571G>A (p.Val191Met)
c.568G>A (p.Val190Met)
c.139G>A (p.Val47Met)
n.505C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.104741204G>CCA391240703ADSS1c.754G>C (p.Val252Leu)
c.883G>C (p.Val295Leu)
c.866G>C (n.866G>C)
c.819G>C (n.819G>C)
n.1675G>C
c.757G>C (p.Val253Leu)
c.886G>C (p.Val296Leu)
c.571G>C (p.Val191Leu)
c.568G>C (p.Val190Leu)
c.139G>C (p.Val47Leu)
n.505C>G
14g.104741204G=CA2160932367ADSS1c.754G= (p.Val252=)
c.883G= (p.Val295=)
c.866G= (n.866G=)
c.819G= (n.819G=)
n.1675G=
c.757G= (p.Val253=)
c.886G= (p.Val296=)
c.571G= (p.Val191=)
c.568G= (p.Val190=)
c.139G= (p.Val47=)
n.505C=
14g.104741204G>TCA7373836ADSS1c.754G>T (p.Val252Leu)
c.883G>T (p.Val295Leu)
c.866G>T (n.866G>T)
c.819G>T (n.819G>T)
n.1675G>T
c.757G>T (p.Val253Leu)
c.886G>T (p.Val296Leu)
c.571G>T (p.Val191Leu)
c.568G>T (p.Val190Leu)
c.139G>T (p.Val47Leu)
n.505C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.104741205T>ACA391240705ADSS1c.755T>A (p.Val252Glu)
c.884T>A (p.Val295Glu)
c.867T>A (n.867T>A)
c.820T>A (n.820T>A)
n.1676T>A
c.758T>A (p.Val253Glu)
c.887T>A (p.Val296Glu)
c.572T>A (p.Val191Glu)
c.569T>A (p.Val190Glu)
c.140T>A (p.Val47Glu)
n.504A>T
14g.104741205T>CCA391240708ADSS1c.755T>C (p.Val252Ala)
c.884T>C (p.Val295Ala)
c.867T>C (n.867T>C)
c.820T>C (n.820T>C)
n.1676T>C
c.758T>C (p.Val253Ala)
c.887T>C (p.Val296Ala)
c.572T>C (p.Val191Ala)
c.569T>C (p.Val190Ala)
c.140T>C (p.Val47Ala)
n.504A>G
 COSMIC COSMIC
14g.104741205T>GCA391240709ADSS1c.755T>G (p.Val252Gly)
c.884T>G (p.Val295Gly)
c.867T>G (n.867T>G)
c.820T>G (n.820T>G)
n.1676T>G
c.758T>G (p.Val253Gly)
c.887T>G (p.Val296Gly)
c.572T>G (p.Val191Gly)
c.569T>G (p.Val190Gly)
c.140T>G (p.Val47Gly)
n.504A>C
14g.104741206G>ACA488457365ADSS1c.756G>A (p.Val252=)
c.885G>A (p.Val295=)
c.868G>A (n.868G>A)
c.821G>A (n.821G>A)
n.1677G>A
c.759G>A (p.Val253=)
c.888G>A (p.Val296=)
c.573G>A (p.Val191=)
c.570G>A (p.Val190=)
c.141G>A (p.Val47=)
n.503C>T
14g.104741206G>CCA488457366ADSS1c.756G>C (p.Val252=)
c.885G>C (p.Val295=)
c.868G>C (n.868G>C)
c.821G>C (n.821G>C)
n.1677G>C
c.759G>C (p.Val253=)
c.888G>C (p.Val296=)
c.573G>C (p.Val191=)
c.570G>C (p.Val190=)
c.141G>C (p.Val47=)
n.503C>G
14g.104741206G>TCA488457367ADSS1c.756G>T (p.Val252=)
c.885G>T (p.Val295=)
c.868G>T (n.868G>T)
c.821G>T (n.821G>T)
n.1677G>T
c.759G>T (p.Val253=)
c.888G>T (p.Val296=)
c.573G>T (p.Val191=)
c.570G>T (p.Val190=)
c.141G>T (p.Val47=)
n.503C>A
14g.104741207G>ACA391240711ADSS1c.757G>A (p.Glu253Lys)
c.886G>A (p.Glu296Lys)
c.869G>A (n.869G>A)
c.822G>A (n.822G>A)
n.1678G>A
c.760G>A (p.Glu254Lys)
c.889G>A (p.Glu297Lys)
c.574G>A (p.Glu192Lys)
c.571G>A (p.Glu191Lys)
c.142G>A (p.Glu48Lys)
n.502C>T
14g.104741207G>CCA391240712ADSS1c.757G>C (p.Glu253Gln)
c.886G>C (p.Glu296Gln)
c.869G>C (n.869G>C)
c.822G>C (n.822G>C)
n.1678G>C
c.760G>C (p.Glu254Gln)
c.889G>C (p.Glu297Gln)
c.574G>C (p.Glu192Gln)
c.571G>C (p.Glu191Gln)
c.142G>C (p.Glu48Gln)
n.502C>G
14g.104741207G>TCA391240713ADSS1c.757G>T (p.Glu253Ter)
c.886G>T (p.Glu296Ter)
c.869G>T (n.869G>T)
c.822G>T (n.822G>T)
n.1678G>T
c.760G>T (p.Glu254Ter)
c.889G>T (p.Glu297Ter)
c.574G>T (p.Glu192Ter)
c.571G>T (p.Glu191Ter)
c.142G>T (p.Glu48Ter)
n.502C>A
14g.104741208A=CA2160932369ADSS1c.758A= (p.Glu253=)
c.887A= (p.Glu296=)
c.870A= (n.870A=)
c.823A= (n.823A=)
n.1679A=
c.761A= (p.Glu254=)
c.890A= (p.Glu297=)
c.575A= (p.Glu192=)
c.572A= (p.Glu191=)
c.143A= (p.Glu48=)
n.501T=
14g.104741208A>CCA391240715ADSS1c.758A>C (p.Glu253Ala)
c.887A>C (p.Glu296Ala)
c.870A>C (n.870A>C)
c.823A>C (n.823A>C)
n.1679A>C
c.761A>C (p.Glu254Ala)
c.890A>C (p.Glu297Ala)
c.575A>C (p.Glu192Ala)
c.572A>C (p.Glu191Ala)
c.143A>C (p.Glu48Ala)
n.501T>G
14g.104741208A>GCA391240716ADSS1c.758A>G (p.Glu253Gly)
c.887A>G (p.Glu296Gly)
c.870A>G (n.870A>G)
c.823A>G (n.823A>G)
n.1679A>G
c.761A>G (p.Glu254Gly)
c.890A>G (p.Glu297Gly)
c.575A>G (p.Glu192Gly)
c.572A>G (p.Glu191Gly)
c.143A>G (p.Glu48Gly)
n.501T>C
 dbSNP
14g.104741208A>TCA391240719ADSS1c.758A>T (p.Glu253Val)
c.887A>T (p.Glu296Val)
c.870A>T (n.870A>T)
c.823A>T (n.823A>T)
n.1679A>T
c.761A>T (p.Glu254Val)
c.890A>T (p.Glu297Val)
c.575A>T (p.Glu192Val)
c.572A>T (p.Glu191Val)
c.143A>T (p.Glu48Val)
n.501T>A
14g.104741208_104741209delinsAGCA2160932370ADSS1c.758_759delinsAG (p.Glu253=)
c.887_888delinsAG (p.Glu296=)
c.870_871delinsAG (n.870_871delinsAG)
c.823_824delinsAG (n.823_824delinsAG)
n.1679_1680delinsAG
c.761_762delinsAG (p.Glu254=)
c.890_891delinsAG (p.Glu297=)
c.575_576delinsAG (p.Glu192=)
c.572_573delinsAG (p.Glu191=)
c.143_144delinsAG (p.Glu48=)
n.500_501delinsCT
14g.104741209G>ACA488457368ADSS1c.759G>A (p.Glu253=)
c.888G>A (p.Glu296=)
c.871G>A (n.871G>A)
c.824G>A (n.824G>A)
n.1680G>A
c.762G>A (p.Glu254=)
c.891G>A (p.Glu297=)
c.576G>A (p.Glu192=)
c.573G>A (p.Glu191=)
c.144G>A (p.Glu48=)
n.500C>T
14g.104741209G>CCA391240720ADSS1c.759G>C (p.Glu253Asp)
c.888G>C (p.Glu296Asp)
c.871G>C (n.871G>C)
c.824G>C (n.824G>C)
n.1680G>C
c.762G>C (p.Glu254Asp)
c.891G>C (p.Glu297Asp)
c.576G>C (p.Glu192Asp)
c.573G>C (p.Glu191Asp)
c.144G>C (p.Glu48Asp)
n.500C>G
14g.104741209G>TCA391240721ADSS1c.759G>T (p.Glu253Asp)
c.888G>T (p.Glu296Asp)
c.871G>T (n.871G>T)
c.824G>T (n.824G>T)
n.1680G>T
c.762G>T (p.Glu254Asp)
c.891G>T (p.Glu297Asp)
c.576G>T (p.Glu192Asp)
c.573G>T (p.Glu191Asp)
c.144G>T (p.Glu48Asp)
n.500C>A
14g.104741211delCA966919472ADSS1c.761del (p.Gly254ValfsTer17)
c.890del (p.Gly297ValfsTer17)
c.873del (n.873del)
c.826del (n.826del)
n.1682del
c.764del (p.Gly255ValfsTer17)
c.893del (p.Gly298ValfsTer17)
c.578del (p.Gly193ValfsTer17)
c.575del (p.Gly192ValfsTer17)
c.146del (p.Gly49ValfsTer17)
n.500del
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.104741210G>ACA7373837ADSS1c.760G>A (p.Gly254Ser)
c.889G>A (p.Gly297Ser)
c.872G>A (n.872G>A)
c.825G>A (n.825G>A)
n.1681G>A
c.763G>A (p.Gly255Ser)
c.892G>A (p.Gly298Ser)
c.577G>A (p.Gly193Ser)
c.574G>A (p.Gly192Ser)
c.145G>A (p.Gly49Ser)
n.499C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.104741210G>CCA391240725ADSS1c.760G>C (p.Gly254Arg)
c.889G>C (p.Gly297Arg)
c.872G>C (n.872G>C)
c.825G>C (n.825G>C)
n.1681G>C
c.763G>C (p.Gly255Arg)
c.892G>C (p.Gly298Arg)
c.577G>C (p.Gly193Arg)
c.574G>C (p.Gly192Arg)
c.145G>C (p.Gly49Arg)
n.499C>G
14g.104741210G=CA2160932373ADSS1c.760G= (p.Gly254=)
c.889G= (p.Gly297=)
c.872G= (n.872G=)
c.825G= (n.825G=)
n.1681G=
c.763G= (p.Gly255=)
c.892G= (p.Gly298=)
c.577G= (p.Gly193=)
c.574G= (p.Gly192=)
c.145G= (p.Gly49=)
n.499C=
14g.104741210G>TCA391240724ADSS1c.760G>T (p.Gly254Cys)
c.889G>T (p.Gly297Cys)
c.872G>T (n.872G>T)
c.825G>T (n.825G>T)
n.1681G>T
c.763G>T (p.Gly255Cys)
c.892G>T (p.Gly298Cys)
c.577G>T (p.Gly193Cys)
c.574G>T (p.Gly192Cys)
c.145G>T (p.Gly49Cys)
n.499C>A
14g.104741211G>ACA391240729ADSS1c.761G>A (p.Gly254Asp)
c.890G>A (p.Gly297Asp)
c.873G>A (n.873G>A)
c.826G>A (n.826G>A)
n.1682G>A
c.764G>A (p.Gly255Asp)
c.893G>A (p.Gly298Asp)
c.578G>A (p.Gly193Asp)
c.575G>A (p.Gly192Asp)
c.146G>A (p.Gly49Asp)
n.498C>T
 dbSNP gnomAD v3 gnomAD v4
14g.104741211G>CCA391240730ADSS1c.761G>C (p.Gly254Ala)
c.890G>C (p.Gly297Ala)
c.873G>C (n.873G>C)
c.826G>C (n.826G>C)
n.1682G>C
c.764G>C (p.Gly255Ala)
c.893G>C (p.Gly298Ala)
c.578G>C (p.Gly193Ala)
c.575G>C (p.Gly192Ala)
c.146G>C (p.Gly49Ala)
n.498C>G
14g.104741211G=CA2160932376ADSS1c.761G= (p.Gly254=)
c.890G= (p.Gly297=)
c.873G= (n.873G=)
c.826G= (n.826G=)
n.1682G=
c.764G= (p.Gly255=)
c.893G= (p.Gly298=)
c.578G= (p.Gly193=)
c.575G= (p.Gly192=)
c.146G= (p.Gly49=)
n.498C=
14g.104741211G>TCA391240731ADSS1c.761G>T (p.Gly254Val)
c.890G>T (p.Gly297Val)
c.873G>T (n.873G>T)
c.826G>T (n.826G>T)
n.1682G>T
c.764G>T (p.Gly255Val)
c.893G>T (p.Gly298Val)
c.578G>T (p.Gly193Val)
c.575G>T (p.Gly192Val)
c.146G>T (p.Gly49Val)
n.498C>A
14g.104741212T>ACA488457369ADSS1c.762T>A (p.Gly254=)
c.891T>A (p.Gly297=)
c.874T>A (n.874T>A)
c.827T>A (n.827T>A)
n.1683T>A
c.765T>A (p.Gly255=)
c.894T>A (p.Gly298=)
c.579T>A (p.Gly193=)
c.576T>A (p.Gly192=)
c.147T>A (p.Gly49=)
n.497A>T
14g.104741212T>CCA488457370ADSS1c.762T>C (p.Gly254=)
c.891T>C (p.Gly297=)
c.874T>C (n.874T>C)
c.827T>C (n.827T>C)
n.1683T>C
c.765T>C (p.Gly255=)
c.894T>C (p.Gly298=)
c.579T>C (p.Gly193=)
c.576T>C (p.Gly192=)
c.147T>C (p.Gly49=)
n.497A>G
14g.104741212T>GCA488457371ADSS1c.762T>G (p.Gly254=)
c.891T>G (p.Gly297=)
c.874T>G (n.874T>G)
c.827T>G (n.827T>G)
n.1683T>G
c.765T>G (p.Gly255=)
c.894T>G (p.Gly298=)
c.579T>G (p.Gly193=)
c.576T>G (p.Gly192=)
c.147T>G (p.Gly49=)
n.497A>C
 dbSNP
14g.104741212T=CA2160932378ADSS1c.762T= (p.Gly254=)
c.891T= (p.Gly297=)
c.874T= (n.874T=)
c.827T= (n.827T=)
n.1683T=
c.765T= (p.Gly255=)
c.894T= (p.Gly298=)
c.579T= (p.Gly193=)
c.576T= (p.Gly192=)
c.147T= (p.Gly49=)
n.497A=
14g.104741213G>ACA391240733ADSS1c.763G>A (p.Ala255Thr)
c.892G>A (p.Ala298Thr)
c.875G>A (n.875G>A)
c.828G>A (n.828G>A)
n.1684G>A
c.766G>A (p.Ala256Thr)
c.895G>A (p.Ala299Thr)
c.580G>A (p.Ala194Thr)
c.577G>A (p.Ala193Thr)
c.148G>A (p.Ala50Thr)
n.496C>T
 gnomAD v4
14g.104741213G>CCA391240735ADSS1c.763G>C (p.Ala255Pro)
c.892G>C (p.Ala298Pro)
c.875G>C (n.875G>C)
c.828G>C (n.828G>C)
n.1684G>C
c.766G>C (p.Ala256Pro)
c.895G>C (p.Ala299Pro)
c.580G>C (p.Ala194Pro)
c.577G>C (p.Ala193Pro)
c.148G>C (p.Ala50Pro)
n.496C>G
14g.104741213G>TCA391240737ADSS1c.763G>T (p.Ala255Ser)
c.892G>T (p.Ala298Ser)
c.875G>T (n.875G>T)
c.828G>T (n.828G>T)
n.1684G>T
c.766G>T (p.Ala256Ser)
c.895G>T (p.Ala299Ser)
c.580G>T (p.Ala194Ser)
c.577G>T (p.Ala193Ser)
c.148G>T (p.Ala50Ser)
n.496C>A
14g.104741214C>ACA391240739ADSS1c.764C>A (p.Ala255Asp)
c.893C>A (p.Ala298Asp)
c.876C>A (n.876C>A)
c.829C>A (n.829C>A)
n.1685C>A
c.767C>A (p.Ala256Asp)
c.896C>A (p.Ala299Asp)
c.581C>A (p.Ala194Asp)
c.578C>A (p.Ala193Asp)
c.149C>A (p.Ala50Asp)
n.495G>T
 gnomAD v4
14g.104741214C>GCA391240742ADSS1c.764C>G (p.Ala255Gly)
c.893C>G (p.Ala298Gly)
c.876C>G (n.876C>G)
c.829C>G (n.829C>G)
n.1685C>G
c.767C>G (p.Ala256Gly)
c.896C>G (p.Ala299Gly)
c.581C>G (p.Ala194Gly)
c.578C>G (p.Ala193Gly)
c.149C>G (p.Ala50Gly)
n.495G>C
 gnomAD v4
14g.104741214C>TCA391240743ADSS1c.764C>T (p.Ala255Val)
c.893C>T (p.Ala298Val)
c.876C>T (n.876C>T)
c.829C>T (n.829C>T)
n.1685C>T
c.767C>T (p.Ala256Val)
c.896C>T (p.Ala299Val)
c.581C>T (p.Ala194Val)
c.578C>T (p.Ala193Val)
c.149C>T (p.Ala50Val)
n.495G>A
 gnomAD v4
14g.104741215C>ACA488457374ADSS1c.765C>A (p.Ala255=)
c.894C>A (p.Ala298=)
c.877C>A (n.877C>A)
c.830C>A (n.830C>A)
n.1686C>A
c.768C>A (p.Ala256=)
c.897C>A (p.Ala299=)
c.582C>A (p.Ala194=)
c.579C>A (p.Ala193=)
c.150C>A (p.Ala50=)
n.494G>T
 gnomAD v4
14g.104741215C>GCA488457372ADSS1c.765C>G (p.Ala255=)
c.894C>G (p.Ala298=)
c.877C>G (n.877C>G)
c.830C>G (n.830C>G)
n.1686C>G
c.768C>G (p.Ala256=)
c.897C>G (p.Ala299=)
c.582C>G (p.Ala194=)
c.579C>G (p.Ala193=)
c.150C>G (p.Ala50=)
n.494G>C
14g.104741215C>TCA488457373ADSS1c.765C>T (p.Ala255=)
c.894C>T (p.Ala298=)
c.877C>T (n.877C>T)
c.830C>T (n.830C>T)
n.1686C>T
c.768C>T (p.Ala256=)
c.897C>T (p.Ala299=)
c.582C>T (p.Ala194=)
c.579C>T (p.Ala193=)
c.150C>T (p.Ala50=)
n.494G>A
 gnomAD v4
14g.104741216A>CCA391240746ADSS1c.766A>C (p.Asn256His)
c.895A>C (p.Asn299His)
c.878A>C (n.878A>C)
c.831A>C (n.831A>C)
n.1687A>C
c.769A>C (p.Asn257His)
c.898A>C (p.Asn300His)
c.583A>C (p.Asn195His)
c.580A>C (p.Asn194His)
c.151A>C (p.Asn51His)
n.493T>G
14g.104741216A>GCA391240748ADSS1c.766A>G (p.Asn256Asp)
c.895A>G (p.Asn299Asp)
c.878A>G (n.878A>G)
c.831A>G (n.831A>G)
n.1687A>G
c.769A>G (p.Asn257Asp)
c.898A>G (p.Asn300Asp)
c.583A>G (p.Asn195Asp)
c.580A>G (p.Asn194Asp)
c.151A>G (p.Asn51Asp)
n.493T>C
 gnomAD v4
14g.104741216A>TCA391240750ADSS1c.766A>T (p.Asn256Tyr)
c.895A>T (p.Asn299Tyr)
c.878A>T (n.878A>T)
c.831A>T (n.831A>T)
n.1687A>T
c.769A>T (p.Asn257Tyr)
c.898A>T (p.Asn300Tyr)
c.583A>T (p.Asn195Tyr)
c.580A>T (p.Asn194Tyr)
c.151A>T (p.Asn51Tyr)
n.493T>A
14g.104741217A=CA2160932381ADSS1c.767A= (p.Asn256=)
c.896A= (p.Asn299=)
c.879A= (n.879A=)
c.832A= (n.832A=)
n.1688A=
c.770A= (p.Asn257=)
c.899A= (p.Asn300=)
c.584A= (p.Asn195=)
c.581A= (p.Asn194=)
c.152A= (p.Asn51=)
n.492T=
14g.104741217A>CCA391240754ADSS1c.767A>C (p.Asn256Thr)
c.896A>C (p.Asn299Thr)
c.879A>C (n.879A>C)
c.832A>C (n.832A>C)
n.1688A>C
c.770A>C (p.Asn257Thr)
c.899A>C (p.Asn300Thr)
c.584A>C (p.Asn195Thr)
c.581A>C (p.Asn194Thr)
c.152A>C (p.Asn51Thr)
n.492T>G
14g.104741217A>GCA391240753ADSS1c.767A>G (p.Asn256Ser)
c.896A>G (p.Asn299Ser)
c.879A>G (n.879A>G)
c.832A>G (n.832A>G)
n.1688A>G
c.770A>G (p.Asn257Ser)
c.899A>G (p.Asn300Ser)
c.584A>G (p.Asn195Ser)
c.581A>G (p.Asn194Ser)
c.152A>G (p.Asn51Ser)
n.492T>C
 dbSNP gnomAD v2 gnomAD v4
14g.104741217A>TCA391240752ADSS1c.767A>T (p.Asn256Ile)
c.896A>T (p.Asn299Ile)
c.879A>T (n.879A>T)
c.832A>T (n.832A>T)
n.1688A>T
c.770A>T (p.Asn257Ile)
c.899A>T (p.Asn300Ile)
c.584A>T (p.Asn195Ile)
c.581A>T (p.Asn194Ile)
c.152A>T (p.Asn51Ile)
n.492T>A
 gnomAD v4
14g.104741218C>ACA391240759ADSS1c.768C>A (p.Asn256Lys)
c.897C>A (p.Asn299Lys)
c.880C>A (n.880C>A)
c.833C>A (n.833C>A)
n.1689C>A
c.771C>A (p.Asn257Lys)
c.900C>A (p.Asn300Lys)
c.585C>A (p.Asn195Lys)
c.582C>A (p.Asn194Lys)
c.153C>A (p.Asn51Lys)
n.491G>T
 dbSNP gnomAD v3 gnomAD v4
14g.104741218C=CA2160932387ADSS1c.768C= (p.Asn256=)
c.897C= (p.Asn299=)
c.880C= (n.880C=)
c.833C= (n.833C=)
n.1689C=
c.771C= (p.Asn257=)
c.900C= (p.Asn300=)
c.585C= (p.Asn195=)
c.582C= (p.Asn194=)
c.153C= (p.Asn51=)
n.491G=
14g.104741218C>GCA391240757ADSS1c.768C>G (p.Asn256Lys)
c.897C>G (p.Asn299Lys)
c.880C>G (n.880C>G)
c.833C>G (n.833C>G)
n.1689C>G
c.771C>G (p.Asn257Lys)
c.900C>G (p.Asn300Lys)
c.585C>G (p.Asn195Lys)
c.582C>G (p.Asn194Lys)
c.153C>G (p.Asn51Lys)
n.491G>C
14g.104741218C>TCA7373838ADSS1c.768C>T (p.Asn256=)
c.897C>T (p.Asn299=)
c.880C>T (n.880C>T)
c.833C>T (n.833C>T)
n.1689C>T
c.771C>T (p.Asn257=)
c.900C>T (p.Asn300=)
c.585C>T (p.Asn195=)
c.582C>T (p.Asn194=)
c.153C>T (p.Asn51=)
n.491G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.104741219G>ACA7373839ADSS1c.769G>A (p.Ala257Thr)
c.898G>A (p.Ala300Thr)
c.881G>A (n.881G>A)
c.834G>A (n.834G>A)
n.1690G>A
c.772G>A (p.Ala258Thr)
c.901G>A (p.Ala301Thr)
c.586G>A (p.Ala196Thr)
c.583G>A (p.Ala195Thr)
c.154G>A (p.Ala52Thr)
n.490C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.104741219G>CCA391240761ADSS1c.769G>C (p.Ala257Pro)
c.898G>C (p.Ala300Pro)
c.881G>C (n.881G>C)
c.834G>C (n.834G>C)
n.1690G>C
c.772G>C (p.Ala258Pro)
c.901G>C (p.Ala301Pro)
c.586G>C (p.Ala196Pro)
c.583G>C (p.Ala195Pro)
c.154G>C (p.Ala52Pro)
n.490C>G
14g.104741219G=CA2160932391ADSS1c.769G= (p.Ala257=)
c.898G= (p.Ala300=)
c.881G= (n.881G=)
c.834G= (n.834G=)
n.1690G=
c.772G= (p.Ala258=)
c.901G= (p.Ala301=)
c.586G= (p.Ala196=)
c.583G= (p.Ala195=)
c.154G= (p.Ala52=)
n.490C=
14g.104741219G>TCA391240764ADSS1c.769G>T (p.Ala257Ser)
c.898G>T (p.Ala300Ser)
c.881G>T (n.881G>T)
c.834G>T (n.834G>T)
n.1690G>T
c.772G>T (p.Ala258Ser)
c.901G>T (p.Ala301Ser)
c.586G>T (p.Ala196Ser)
c.583G>T (p.Ala195Ser)
c.154G>T (p.Ala52Ser)
n.490C>A
14g.104741220C>ACA391240765ADSS1c.770C>A (p.Ala257Asp)
c.899C>A (p.Ala300Asp)
c.882C>A (n.882C>A)
c.835C>A (n.835C>A)
n.1691C>A
c.773C>A (p.Ala258Asp)
c.902C>A (p.Ala301Asp)
c.587C>A (p.Ala196Asp)
c.584C>A (p.Ala195Asp)
c.155C>A (p.Ala52Asp)
n.489G>T
 gnomAD v4
14g.104741220C>GCA391240767ADSS1c.770C>G (p.Ala257Gly)
c.899C>G (p.Ala300Gly)
c.882C>G (n.882C>G)
c.835C>G (n.835C>G)
n.1691C>G
c.773C>G (p.Ala258Gly)
c.902C>G (p.Ala301Gly)
c.587C>G (p.Ala196Gly)
c.584C>G (p.Ala195Gly)
c.155C>G (p.Ala52Gly)
n.489G>C
14g.104741220C>TCA391240770ADSS1c.770C>T (p.Ala257Val)
c.899C>T (p.Ala300Val)
c.882C>T (n.882C>T)
c.835C>T (n.835C>T)
n.1691C>T
c.773C>T (p.Ala258Val)
c.902C>T (p.Ala301Val)
c.587C>T (p.Ala196Val)
c.584C>T (p.Ala195Val)
c.155C>T (p.Ala52Val)
n.489G>A
14g.104741221C>ACA488457375ADSS1c.771C>A (p.Ala257=)
c.900C>A (p.Ala300=)
c.883C>A (n.883C>A)
c.836C>A (n.836C>A)
n.1692C>A
c.774C>A (p.Ala258=)
c.903C>A (p.Ala301=)
c.588C>A (p.Ala196=)
c.585C>A (p.Ala195=)
c.156C>A (p.Ala52=)
n.488G>T
 gnomAD v4
14g.104741221C=CA2160932396ADSS1c.771C= (p.Ala257=)
c.900C= (p.Ala300=)
c.883C= (n.883C=)
c.836C= (n.836C=)
n.1692C=
c.774C= (p.Ala258=)
c.903C= (p.Ala301=)
c.588C= (p.Ala196=)
c.585C= (p.Ala195=)
c.156C= (p.Ala52=)
n.488G=
14g.104741221C>GCA488457376ADSS1c.771C>G (p.Ala257=)
c.900C>G (p.Ala300=)
c.883C>G (n.883C>G)
c.836C>G (n.836C>G)
n.1692C>G
c.774C>G (p.Ala258=)
c.903C>G (p.Ala301=)
c.588C>G (p.Ala196=)
c.585C>G (p.Ala195=)
c.156C>G (p.Ala52=)
n.488G>C
14g.104741221C>TCA7373840ADSS1c.771C>T (p.Ala257=)
c.900C>T (p.Ala300=)
c.883C>T (n.883C>T)
c.836C>T (n.836C>T)
n.1692C>T
c.774C>T (p.Ala258=)
c.903C>T (p.Ala301=)
c.588C>T (p.Ala196=)
c.585C>T (p.Ala195=)
c.156C>T (p.Ala52=)
n.488G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.104741222G>ACA7373841ADSS1c.772G>A (p.Ala258Thr)
c.901G>A (p.Ala301Thr)
c.884G>A (n.884G>A)
c.837G>A (n.837G>A)
n.1693G>A
c.775G>A (p.Ala259Thr)
c.904G>A (p.Ala302Thr)
c.589G>A (p.Ala197Thr)
c.586G>A (p.Ala196Thr)
c.157G>A (p.Ala53Thr)
n.487C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.104741222G>CCA391240773ADSS1c.772G>C (p.Ala258Pro)
c.901G>C (p.Ala301Pro)
c.884G>C (n.884G>C)
c.837G>C (n.837G>C)
n.1693G>C
c.775G>C (p.Ala259Pro)
c.904G>C (p.Ala302Pro)
c.589G>C (p.Ala197Pro)
c.586G>C (p.Ala196Pro)
c.157G>C (p.Ala53Pro)
n.487C>G
14g.104741222G=CA2160932399ADSS1c.772G= (p.Ala258=)
c.901G= (p.Ala301=)
c.884G= (n.884G=)
c.837G= (n.837G=)
n.1693G=
c.775G= (p.Ala259=)
c.904G= (p.Ala302=)
c.589G= (p.Ala197=)
c.586G= (p.Ala196=)
c.157G= (p.Ala53=)
n.487C=
14g.104741222G>TCA391240775ADSS1c.772G>T (p.Ala258Ser)
c.901G>T (p.Ala301Ser)
c.884G>T (n.884G>T)
c.837G>T (n.837G>T)
n.1693G>T
c.775G>T (p.Ala259Ser)
c.904G>T (p.Ala302Ser)
c.589G>T (p.Ala197Ser)
c.586G>T (p.Ala196Ser)
c.157G>T (p.Ala53Ser)
n.487C>A
14g.104741223C>ACA391240780ADSS1c.773C>A (p.Ala258Asp)
c.902C>A (p.Ala301Asp)
c.885C>A (n.885C>A)
c.838C>A (n.838C>A)
n.1694C>A
c.776C>A (p.Ala259Asp)
c.905C>A (p.Ala302Asp)
c.590C>A (p.Ala197Asp)
c.587C>A (p.Ala196Asp)
c.158C>A (p.Ala53Asp)
n.486G>T
 gnomAD v4
14g.104741223C=CA2160932401ADSS1c.773C= (p.Ala258=)
c.902C= (p.Ala301=)
c.885C= (n.885C=)
c.838C= (n.838C=)
n.1694C=
c.776C= (p.Ala259=)
c.905C= (p.Ala302=)
c.590C= (p.Ala197=)
c.587C= (p.Ala196=)
c.158C= (p.Ala53=)
n.486G=
14g.104741223C>GCA391240781ADSS1c.773C>G (p.Ala258Gly)
c.902C>G (p.Ala301Gly)
c.885C>G (n.885C>G)
c.838C>G (n.838C>G)
n.1694C>G
c.776C>G (p.Ala259Gly)
c.905C>G (p.Ala302Gly)
c.590C>G (p.Ala197Gly)
c.587C>G (p.Ala196Gly)
c.158C>G (p.Ala53Gly)
n.486G>C
14g.104741223C>TCA391240778ADSS1c.773C>T (p.Ala258Val)
c.902C>T (p.Ala301Val)
c.885C>T (n.885C>T)
c.838C>T (n.838C>T)
n.1694C>T
c.776C>T (p.Ala259Val)
c.905C>T (p.Ala302Val)
c.590C>T (p.Ala197Val)
c.587C>T (p.Ala196Val)
c.158C>T (p.Ala53Val)
n.486G>A
 dbSNP gnomAD v2 gnomAD v4
14g.104741224C>ACA488457377ADSS1c.774C>A (p.Ala258=)
c.903C>A (p.Ala301=)
c.886C>A (n.886C>A)
c.839C>A (n.839C>A)
n.1695C>A
c.777C>A (p.Ala259=)
c.906C>A (p.Ala302=)
c.591C>A (p.Ala197=)
c.588C>A (p.Ala196=)
c.159C>A (p.Ala53=)
n.485G>T
14g.104741224C=CA2160932403ADSS1c.774C= (p.Ala258=)
c.903C= (p.Ala301=)
c.886C= (n.886C=)
c.839C= (n.839C=)
n.1695C=
c.777C= (p.Ala259=)
c.906C= (p.Ala302=)
c.591C= (p.Ala197=)
c.588C= (p.Ala196=)
c.159C= (p.Ala53=)
n.485G=
14g.104741224C>GCA488457378ADSS1c.774C>G (p.Ala258=)
c.903C>G (p.Ala301=)
c.886C>G (n.886C>G)
c.839C>G (n.839C>G)
n.1695C>G
c.777C>G (p.Ala259=)
c.906C>G (p.Ala302=)
c.591C>G (p.Ala197=)
c.588C>G (p.Ala196=)
c.159C>G (p.Ala53=)
n.485G>C
14g.104741224C>TCA7373842ADSS1c.774C>T (p.Ala258=)
c.903C>T (p.Ala301=)
c.886C>T (n.886C>T)
c.839C>T (n.839C>T)
n.1695C>T
c.777C>T (p.Ala259=)
c.906C>T (p.Ala302=)
c.591C>T (p.Ala197=)
c.588C>T (p.Ala196=)
c.159C>T (p.Ala53=)
n.485G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.104741225C>ACA391240783ADSS1c.775C>A (p.Leu259Ile)
c.904C>A (p.Leu302Ile)
c.887C>A (n.887C>A)
c.840C>A (n.840C>A)
n.1696C>A
c.778C>A (p.Leu260Ile)
c.907C>A (p.Leu303Ile)
c.592C>A (p.Leu198Ile)
c.589C>A (p.Leu197Ile)
c.160C>A (p.Leu54Ile)
n.484G>T
 gnomAD v4 COSMIC
14g.104741225C>GCA391240786ADSS1c.775C>G (p.Leu259Val)
c.904C>G (p.Leu302Val)
c.887C>G (n.887C>G)
c.840C>G (n.840C>G)
n.1696C>G
c.778C>G (p.Leu260Val)
c.907C>G (p.Leu303Val)
c.592C>G (p.Leu198Val)
c.589C>G (p.Leu197Val)
c.160C>G (p.Leu54Val)
n.484G>C
14g.104741225C>TCA391240787ADSS1c.775C>T (p.Leu259Phe)
c.904C>T (p.Leu302Phe)
c.887C>T (n.887C>T)
c.840C>T (n.840C>T)
n.1696C>T
c.778C>T (p.Leu260Phe)
c.907C>T (p.Leu303Phe)
c.592C>T (p.Leu198Phe)
c.589C>T (p.Leu197Phe)
c.160C>T (p.Leu54Phe)
n.484G>A
14g.104741226T>ACA391240792ADSS1c.776T>A (p.Leu259His)
c.905T>A (p.Leu302His)
c.888T>A (n.888T>A)
c.841T>A (n.841T>A)
n.1697T>A
c.779T>A (p.Leu260His)
c.908T>A (p.Leu303His)
c.593T>A (p.Leu198His)
c.590T>A (p.Leu197His)
c.161T>A (p.Leu54His)
n.483A>T
14g.104741226T>CCA391240791ADSS1c.776T>C (p.Leu259Pro)
c.905T>C (p.Leu302Pro)
c.888T>C (n.888T>C)
c.841T>C (n.841T>C)
n.1697T>C
c.779T>C (p.Leu260Pro)
c.908T>C (p.Leu303Pro)
c.593T>C (p.Leu198Pro)
c.590T>C (p.Leu197Pro)
c.161T>C (p.Leu54Pro)
n.483A>G
 gnomAD v4
14g.104741226T>GCA391240788ADSS1c.776T>G (p.Leu259Arg)
c.905T>G (p.Leu302Arg)
c.888T>G (n.888T>G)
c.841T>G (n.841T>G)
n.1697T>G
c.779T>G (p.Leu260Arg)
c.908T>G (p.Leu303Arg)
c.593T>G (p.Leu198Arg)
c.590T>G (p.Leu197Arg)
c.161T>G (p.Leu54Arg)
n.483A>C
14g.104741227C>ACA488457379ADSS1c.777C>A (p.Leu259=)
c.906C>A (p.Leu302=)
c.889C>A (n.889C>A)
c.842C>A (n.842C>A)
n.1698C>A
c.780C>A (p.Leu260=)
c.909C>A (p.Leu303=)
c.594C>A (p.Leu198=)
c.591C>A (p.Leu197=)
c.162C>A (p.Leu54=)
n.482G>T
14g.104741227C>GCA488457380ADSS1c.777C>G (p.Leu259=)
c.906C>G (p.Leu302=)
c.889C>G (n.889C>G)
c.842C>G (n.842C>G)
n.1698C>G
c.780C>G (p.Leu260=)
c.909C>G (p.Leu303=)
c.594C>G (p.Leu198=)
c.591C>G (p.Leu197=)
c.162C>G (p.Leu54=)
n.482G>C
14g.104741227C>TCA488457381ADSS1c.777C>T (p.Leu259=)
c.906C>T (p.Leu302=)
c.889C>T (n.889C>T)
c.842C>T (n.842C>T)
n.1698C>T
c.780C>T (p.Leu260=)
c.909C>T (p.Leu303=)
c.594C>T (p.Leu198=)
c.591C>T (p.Leu197=)
c.162C>T (p.Leu54=)
n.482G>A
 gnomAD v4
14g.104741228C>ACA391240794ADSS1c.778C>A (p.Leu260Ile)
c.907C>A (p.Leu303Ile)
c.890C>A (n.890C>A)
c.843C>A (n.843C>A)
n.1699C>A
c.781C>A (p.Leu261Ile)
c.910C>A (p.Leu304Ile)
c.595C>A (p.Leu199Ile)
c.592C>A (p.Leu198Ile)
c.163C>A (p.Leu55Ile)
n.481G>T
 gnomAD v4
14g.104741228C=CA2160932406ADSS1c.778C= (p.Leu260=)
c.907C= (p.Leu303=)
c.890C= (n.890C=)
c.843C= (n.843C=)
n.1699C=
c.781C= (p.Leu261=)
c.910C= (p.Leu304=)
c.595C= (p.Leu199=)
c.592C= (p.Leu198=)
c.163C= (p.Leu55=)
n.481G=
14g.104741228C>GCA391240795ADSS1c.778C>G (p.Leu260Val)
c.907C>G (p.Leu303Val)
c.890C>G (n.890C>G)
c.843C>G (n.843C>G)
n.1699C>G
c.781C>G (p.Leu261Val)
c.910C>G (p.Leu304Val)
c.595C>G (p.Leu199Val)
c.592C>G (p.Leu198Val)
c.163C>G (p.Leu55Val)
n.481G>C
14g.104741228C>TCA391240798ADSS1c.778C>T (p.Leu260Phe)
c.907C>T (p.Leu303Phe)
c.890C>T (n.890C>T)
c.843C>T (n.843C>T)
n.1699C>T
c.781C>T (p.Leu261Phe)
c.910C>T (p.Leu304Phe)
c.595C>T (p.Leu199Phe)
c.592C>T (p.Leu198Phe)
c.163C>T (p.Leu55Phe)
n.481G>A
 dbSNP gnomAD v2
14g.104741229T>ACA391240800ADSS1c.779T>A (p.Leu260His)
c.908T>A (p.Leu303His)
c.891T>A (n.891T>A)
c.844T>A (n.844T>A)
n.1700T>A
c.782T>A (p.Leu261His)
c.911T>A (p.Leu304His)
c.596T>A (p.Leu199His)
c.593T>A (p.Leu198His)
c.164T>A (p.Leu55His)
n.480A>T
14g.104741229T>CCA391240801ADSS1c.779T>C (p.Leu260Pro)
c.908T>C (p.Leu303Pro)
c.891T>C (n.891T>C)
c.844T>C (n.844T>C)
n.1700T>C
c.782T>C (p.Leu261Pro)
c.911T>C (p.Leu304Pro)
c.596T>C (p.Leu199Pro)
c.593T>C (p.Leu198Pro)
c.164T>C (p.Leu55Pro)
n.480A>G
14g.104741229T>GCA391240802ADSS1c.779T>G (p.Leu260Arg)
c.908T>G (p.Leu303Arg)
c.891T>G (n.891T>G)
c.844T>G (n.844T>G)
n.1700T>G
c.782T>G (p.Leu261Arg)
c.911T>G (p.Leu304Arg)
c.596T>G (p.Leu199Arg)
c.593T>G (p.Leu198Arg)
c.164T>G (p.Leu55Arg)
n.480A>C
14g.104741230C>ACA488457382ADSS1c.780C>A (p.Leu260=)
c.909C>A (p.Leu303=)
c.892C>A (n.892C>A)
c.845C>A (n.845C>A)
n.1701C>A
c.783C>A (p.Leu261=)
c.912C>A (p.Leu304=)
c.597C>A (p.Leu199=)
c.594C>A (p.Leu198=)
c.165C>A (p.Leu55=)
n.479G>T
 dbSNP gnomAD v4
14g.104741230C=CA2160932408ADSS1c.780C= (p.Leu260=)
c.909C= (p.Leu303=)
c.892C= (n.892C=)
c.845C= (n.845C=)
n.1701C=
c.783C= (p.Leu261=)
c.912C= (p.Leu304=)
c.597C= (p.Leu199=)
c.594C= (p.Leu198=)
c.165C= (p.Leu55=)
n.479G=
14g.104741230C>GCA7373843ADSS1c.780C>G (p.Leu260=)
c.909C>G (p.Leu303=)
c.892C>G (n.892C>G)
c.845C>G (n.845C>G)
n.1701C>G
c.783C>G (p.Leu261=)
c.912C>G (p.Leu304=)
c.597C>G (p.Leu199=)
c.594C>G (p.Leu198=)
c.165C>G (p.Leu55=)
n.479G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.104741230C>TCA488457383ADSS1c.780C>T (p.Leu260=)
c.909C>T (p.Leu303=)
c.892C>T (n.892C>T)
c.845C>T (n.845C>T)
n.1701C>T
c.783C>T (p.Leu261=)
c.912C>T (p.Leu304=)
c.597C>T (p.Leu199=)
c.594C>T (p.Leu198=)
c.165C>T (p.Leu55=)
n.479G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.104741231G>ACA7373844ADSS1c.781G>A (p.Asp261Asn)
c.910G>A (p.Asp304Asn)
c.893G>A (n.893G>A)
c.846G>A (n.846G>A)
n.1702G>A
c.784G>A (p.Asp262Asn)
c.913G>A (p.Asp305Asn)
c.598G>A (p.Asp200Asn)
c.595G>A (p.Asp199Asn)
c.166G>A (p.Asp56Asn)
n.478C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.104741231G>CCA391240809ADSS1c.781G>C (p.Asp261His)
c.910G>C (p.Asp304His)
c.893G>C (n.893G>C)
c.846G>C (n.846G>C)
n.1702G>C
c.784G>C (p.Asp262His)
c.913G>C (p.Asp305His)
c.598G>C (p.Asp200His)
c.595G>C (p.Asp199His)
c.166G>C (p.Asp56His)
n.478C>G
14g.104741231G=CA2160932413ADSS1c.781G= (p.Asp261=)
c.910G= (p.Asp304=)
c.893G= (n.893G=)
c.846G= (n.846G=)
n.1702G=
c.784G= (p.Asp262=)
c.913G= (p.Asp305=)
c.598G= (p.Asp200=)
c.595G= (p.Asp199=)
c.166G= (p.Asp56=)
n.478C=
14g.104741231G>TCA391240806ADSS1c.781G>T (p.Asp261Tyr)
c.910G>T (p.Asp304Tyr)
c.893G>T (n.893G>T)
c.846G>T (n.846G>T)
n.1702G>T
c.784G>T (p.Asp262Tyr)
c.913G>T (p.Asp305Tyr)
c.598G>T (p.Asp200Tyr)
c.595G>T (p.Asp199Tyr)
c.166G>T (p.Asp56Tyr)
n.478C>A
 gnomAD v4
14g.104741232A=CA2160932416ADSS1c.782A= (p.Asp261=)
c.911A= (p.Asp304=)
c.894A= (n.894A=)
c.847A= (n.847A=)
n.1703A=
c.785A= (p.Asp262=)
c.914A= (p.Asp305=)
c.599A= (p.Asp200=)
c.596A= (p.Asp199=)
c.167A= (p.Asp56=)
n.477T=
14g.104741232A>CCA7373845ADSS1c.782A>C (p.Asp261Ala)
c.911A>C (p.Asp304Ala)
c.894A>C (n.894A>C)
c.847A>C (n.847A>C)
n.1703A>C
c.785A>C (p.Asp262Ala)
c.914A>C (p.Asp305Ala)
c.599A>C (p.Asp200Ala)
c.596A>C (p.Asp199Ala)
c.167A>C (p.Asp56Ala)
n.477T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.104741232A>GCA391240812ADSS1c.782A>G (p.Asp261Gly)
c.911A>G (p.Asp304Gly)
c.894A>G (n.894A>G)
c.847A>G (n.847A>G)
n.1703A>G
c.785A>G (p.Asp262Gly)
c.914A>G (p.Asp305Gly)
c.599A>G (p.Asp200Gly)
c.596A>G (p.Asp199Gly)
c.167A>G (p.Asp56Gly)
n.477T>C
14g.104741232A>TCA391240814ADSS1c.782A>T (p.Asp261Val)
c.911A>T (p.Asp304Val)
c.894A>T (n.894A>T)
c.847A>T (n.847A>T)
n.1703A>T
c.785A>T (p.Asp262Val)
c.914A>T (p.Asp305Val)
c.599A>T (p.Asp200Val)
c.596A>T (p.Asp199Val)
c.167A>T (p.Asp56Val)
n.477T>A
14g.104741233C>ACA7373846ADSS1c.783C>A (p.Asp261Glu)
c.912C>A (p.Asp304Glu)
c.895C>A (n.895C>A)
c.848C>A (n.848C>A)
n.1704C>A
c.786C>A (p.Asp262Glu)
c.915C>A (p.Asp305Glu)
c.600C>A (p.Asp200Glu)
c.597C>A (p.Asp199Glu)
c.168C>A (p.Asp56Glu)
n.476G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.104741233C=CA2160932418ADSS1c.783C= (p.Asp261=)
c.912C= (p.Asp304=)
c.895C= (n.895C=)
c.848C= (n.848C=)
n.1704C=
c.786C= (p.Asp262=)
c.915C= (p.Asp305=)
c.600C= (p.Asp200=)
c.597C= (p.Asp199=)
c.168C= (p.Asp56=)
n.476G=
14g.104741233C>GCA391240817ADSS1c.783C>G (p.Asp261Glu)
c.912C>G (p.Asp304Glu)
c.895C>G (n.895C>G)
c.848C>G (n.848C>G)
n.1704C>G
c.786C>G (p.Asp262Glu)
c.915C>G (p.Asp305Glu)
c.600C>G (p.Asp200Glu)
c.597C>G (p.Asp199Glu)
c.168C>G (p.Asp56Glu)
n.476G>C
 COSMIC COSMIC
14g.104741233C>TCA488457384ADSS1c.783C>T (p.Asp261=)
c.912C>T (p.Asp304=)
c.895C>T (n.895C>T)
c.848C>T (n.848C>T)
n.1704C>T
c.786C>T (p.Asp262=)
c.915C>T (p.Asp305=)
c.600C>T (p.Asp200=)
c.597C>T (p.Asp199=)
c.168C>T (p.Asp56=)
n.476G>A
14g.104741234A>CCA391240819ADSS1c.784A>C (p.Ile262Leu)
c.913A>C (p.Ile305Leu)
c.896A>C (n.896A>C)
c.849A>C (n.849A>C)
n.1705A>C
c.787A>C (p.Ile263Leu)
c.916A>C (p.Ile306Leu)
c.601A>C (p.Ile201Leu)
c.598A>C (p.Ile200Leu)
c.169A>C (p.Ile57Leu)
n.475T>G
14g.104741234A>GCA391240820ADSS1c.784A>G (p.Ile262Val)
c.913A>G (p.Ile305Val)
c.896A>G (n.896A>G)
c.849A>G (n.849A>G)
n.1705A>G
c.787A>G (p.Ile263Val)
c.916A>G (p.Ile306Val)
c.601A>G (p.Ile201Val)
c.598A>G (p.Ile200Val)
c.169A>G (p.Ile57Val)
n.475T>C
 COSMIC
14g.104741234A>TCA391240821ADSS1c.784A>T (p.Ile262Phe)
c.913A>T (p.Ile305Phe)
c.896A>T (n.896A>T)
c.849A>T (n.849A>T)
n.1705A>T
c.787A>T (p.Ile263Phe)
c.916A>T (p.Ile306Phe)
c.601A>T (p.Ile201Phe)
c.598A>T (p.Ile200Phe)
c.169A>T (p.Ile57Phe)
n.475T>A
14g.104741235T>ACA391240824ADSS1c.785T>A (p.Ile262Asn)
c.914T>A (p.Ile305Asn)
c.897T>A (n.897T>A)
c.850T>A (n.850T>A)
n.1706T>A
c.788T>A (p.Ile263Asn)
c.917T>A (p.Ile306Asn)
c.602T>A (p.Ile201Asn)
c.599T>A (p.Ile200Asn)
c.170T>A (p.Ile57Asn)
n.474A>T
14g.104741235T>CCA391240829ADSS1c.785T>C (p.Ile262Thr)
c.914T>C (p.Ile305Thr)
c.897T>C (n.897T>C)
c.850T>C (n.850T>C)
n.1706T>C
c.788T>C (p.Ile263Thr)
c.917T>C (p.Ile306Thr)
c.602T>C (p.Ile201Thr)
c.599T>C (p.Ile200Thr)
c.170T>C (p.Ile57Thr)
n.474A>G
14g.104741235T>GCA391240827ADSS1c.785T>G (p.Ile262Ser)
c.914T>G (p.Ile305Ser)
c.897T>G (n.897T>G)
c.850T>G (n.850T>G)
n.1706T>G
c.788T>G (p.Ile263Ser)
c.917T>G (p.Ile306Ser)
c.602T>G (p.Ile201Ser)
c.599T>G (p.Ile200Ser)
c.170T>G (p.Ile57Ser)
n.474A>C
14g.104741236T>ACA488457385ADSS1c.786T>A (p.Ile262=)
c.915T>A (p.Ile305=)
c.898T>A (n.898T>A)
c.851T>A (n.851T>A)
n.1707T>A
c.789T>A (p.Ile263=)
c.918T>A (p.Ile306=)
c.603T>A (p.Ile201=)
c.600T>A (p.Ile200=)
c.171T>A (p.Ile57=)
n.473A>T
14g.104741236T>CCA488457386ADSS1c.786T>C (p.Ile262=)
c.915T>C (p.Ile305=)
c.898T>C (n.898T>C)
c.851T>C (n.851T>C)
n.1707T>C
c.789T>C (p.Ile263=)
c.918T>C (p.Ile306=)
c.603T>C (p.Ile201=)
c.600T>C (p.Ile200=)
c.171T>C (p.Ile57=)
n.473A>G
 gnomAD v4
14g.104741236T>GCA391240832ADSS1c.786T>G (p.Ile262Met)
c.915T>G (p.Ile305Met)
c.898T>G (n.898T>G)
c.851T>G (n.851T>G)
n.1707T>G
c.789T>G (p.Ile263Met)
c.918T>G (p.Ile306Met)
c.603T>G (p.Ile201Met)
c.600T>G (p.Ile200Met)
c.171T>G (p.Ile57Met)
n.473A>C

Number of alleles fetched