Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.231265354_231265356delCA2650998782GNPATc.630_632del (p.Arg211del)
c.*316_*318del (n.*316_*318del)
c.600_602del (p.Arg201del)
c.447_449del (p.Arg150del)
c.627_629del (p.Arg210del)
c.303_305del (p.Arg102del)
 gnomAD v4
1g.231265355C>ACA345233240GNPATc.631C>A (p.Arg211Ser)
c.*317C>A (n.*317C>A)
c.601C>A (p.Arg201Ser)
c.448C>A (p.Arg150Ser)
c.628C>A (p.Arg210Ser)
c.304C>A (p.Arg102Ser)
 gnomAD v4
1g.231265355C=CA1141581477GNPATc.631C= (p.Arg211=)
c.*317C= (n.*317C=)
c.601C= (p.Arg201=)
c.448C= (p.Arg150=)
c.628C= (p.Arg210=)
c.304C= (p.Arg102=)
1g.231265355C>GCA345233241GNPATc.631C>G (p.Arg211Gly)
c.*317C>G (n.*317C>G)
c.601C>G (p.Arg201Gly)
c.448C>G (p.Arg150Gly)
c.628C>G (p.Arg210Gly)
c.304C>G (p.Arg102Gly)
1g.231265355C>TCA118535GNPATc.631C>T (p.Arg211Cys)
c.*317C>T (n.*317C>T)
c.601C>T (p.Arg201Cys)
c.448C>T (p.Arg150Cys)
c.628C>T (p.Arg210Cys)
c.304C>T (p.Arg102Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.231265356G>ACA118534GNPATc.632G>A (p.Arg211His)
c.*318G>A (n.*318G>A)
c.602G>A (p.Arg201His)
c.449G>A (p.Arg150His)
c.629G>A (p.Arg210His)
c.305G>A (p.Arg102His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.231265356G>CCA345233245GNPATc.632G>C (p.Arg211Pro)
c.*318G>C (n.*318G>C)
c.602G>C (p.Arg201Pro)
c.449G>C (p.Arg150Pro)
c.629G>C (p.Arg210Pro)
c.305G>C (p.Arg102Pro)
 dbSNP gnomAD v4
1g.231265356G=CA1141581478GNPATc.632G= (p.Arg211=)
c.*318G= (n.*318G=)
c.602G= (p.Arg201=)
c.449G= (p.Arg150=)
c.629G= (p.Arg210=)
c.305G= (p.Arg102=)
1g.231265356G>TCA345233246GNPATc.632G>T (p.Arg211Leu)
c.*318G>T (n.*318G>T)
c.602G>T (p.Arg201Leu)
c.449G>T (p.Arg150Leu)
c.629G>T (p.Arg210Leu)
c.305G>T (p.Arg102Leu)
1g.231265357T>ACA423902360GNPATc.633T>A (p.Arg211=)
c.*319T>A (n.*319T>A)
c.603T>A (p.Arg201=)
c.450T>A (p.Arg150=)
c.630T>A (p.Arg210=)
c.306T>A (p.Arg102=)
1g.231265357T>CCA423902362GNPATc.633T>C (p.Arg211=)
c.*319T>C (n.*319T>C)
c.603T>C (p.Arg201=)
c.450T>C (p.Arg150=)
c.630T>C (p.Arg210=)
c.306T>C (p.Arg102=)
1g.231265357T>GCA423902364GNPATc.633T>G (p.Arg211=)
c.*319T>G (n.*319T>G)
c.603T>G (p.Arg201=)
c.450T>G (p.Arg150=)
c.630T>G (p.Arg210=)
c.306T>G (p.Arg102=)
 ClinVar
1g.231265358A>CCA345233248GNPATc.634A>C (p.Thr212Pro)
c.*320A>C (n.*320A>C)
c.604A>C (p.Thr202Pro)
c.451A>C (p.Thr151Pro)
c.631A>C (p.Thr211Pro)
c.307A>C (p.Thr103Pro)
1g.231265358A>GCA345233250GNPATc.634A>G (p.Thr212Ala)
c.*320A>G (n.*320A>G)
c.604A>G (p.Thr202Ala)
c.451A>G (p.Thr151Ala)
c.631A>G (p.Thr211Ala)
c.307A>G (p.Thr103Ala)
 gnomAD v4
1g.231265358A>TCA345233252GNPATc.634A>T (p.Thr212Ser)
c.*320A>T (n.*320A>T)
c.604A>T (p.Thr202Ser)
c.451A>T (p.Thr151Ser)
c.631A>T (p.Thr211Ser)
c.307A>T (p.Thr103Ser)
 COSMIC
1g.231265359C>ACA345233255GNPATc.635C>A (p.Thr212Asn)
c.*321C>A (n.*321C>A)
c.605C>A (p.Thr202Asn)
c.452C>A (p.Thr151Asn)
c.632C>A (p.Thr211Asn)
c.308C>A (p.Thr103Asn)
 gnomAD v4
1g.231265359C>GCA345233256GNPATc.635C>G (p.Thr212Ser)
c.*321C>G (n.*321C>G)
c.605C>G (p.Thr202Ser)
c.452C>G (p.Thr151Ser)
c.632C>G (p.Thr211Ser)
c.308C>G (p.Thr103Ser)
1g.231265359C>TCA345233254GNPATc.635C>T (p.Thr212Ile)
c.*321C>T (n.*321C>T)
c.605C>T (p.Thr202Ile)
c.452C>T (p.Thr151Ile)
c.632C>T (p.Thr211Ile)
c.308C>T (p.Thr103Ile)
 COSMIC
1g.231265360C>ACA423902375GNPATc.636C>A (p.Thr212=)
c.*322C>A (n.*322C>A)
c.606C>A (p.Thr202=)
c.453C>A (p.Thr151=)
c.633C>A (p.Thr211=)
c.309C>A (p.Thr103=)
1g.231265360C>GCA423902377GNPATc.636C>G (p.Thr212=)
c.*322C>G (n.*322C>G)
c.606C>G (p.Thr202=)
c.453C>G (p.Thr151=)
c.633C>G (p.Thr211=)
c.309C>G (p.Thr103=)
1g.231265360C>TCA423902378GNPATc.636C>T (p.Thr212=)
c.*322C>T (n.*322C>T)
c.606C>T (p.Thr202=)
c.453C>T (p.Thr151=)
c.633C>T (p.Thr211=)
c.309C>T (p.Thr103=)
1g.231265361T>ACA345233257GNPATc.637T>A (p.Phe213Ile)
c.*323T>A (n.*323T>A)
c.607T>A (p.Phe203Ile)
c.454T>A (p.Phe152Ile)
c.634T>A (p.Phe212Ile)
c.310T>A (p.Phe104Ile)
1g.231265361T>CCA38977509GNPATc.637T>C (p.Phe213Leu)
c.*323T>C (n.*323T>C)
c.607T>C (p.Phe203Leu)
c.454T>C (p.Phe152Leu)
c.634T>C (p.Phe212Leu)
c.310T>C (p.Phe104Leu)
 dbSNP
1g.231265361T>GCA345233260GNPATc.637T>G (p.Phe213Val)
c.*323T>G (n.*323T>G)
c.607T>G (p.Phe203Val)
c.454T>G (p.Phe152Val)
c.634T>G (p.Phe212Val)
c.310T>G (p.Phe104Val)
1g.231265361T=CA1226898727GNPATc.637T= (p.Phe213=)
c.*323T= (n.*323T=)
c.607T= (p.Phe203=)
c.454T= (p.Phe152=)
c.634T= (p.Phe212=)
c.310T= (p.Phe104=)
1g.231265362T>ACA345233261GNPATc.638T>A (p.Phe213Tyr)
c.*324T>A (n.*324T>A)
c.608T>A (p.Phe203Tyr)
c.455T>A (p.Phe152Tyr)
c.635T>A (p.Phe212Tyr)
c.311T>A (p.Phe104Tyr)
1g.231265362T>CCA345233263GNPATc.638T>C (p.Phe213Ser)
c.*324T>C (n.*324T>C)
c.608T>C (p.Phe203Ser)
c.455T>C (p.Phe152Ser)
c.635T>C (p.Phe212Ser)
c.311T>C (p.Phe104Ser)
1g.231265362T>GCA345233265GNPATc.638T>G (p.Phe213Cys)
c.*324T>G (n.*324T>G)
c.608T>G (p.Phe203Cys)
c.455T>G (p.Phe152Cys)
c.635T>G (p.Phe212Cys)
c.311T>G (p.Phe104Cys)
1g.231265363T>ACA345233267GNPATc.639T>A (p.Phe213Leu)
c.*325T>A (n.*325T>A)
c.609T>A (p.Phe203Leu)
c.456T>A (p.Phe152Leu)
c.636T>A (p.Phe212Leu)
c.312T>A (p.Phe104Leu)
1g.231265363T>CCA423902391GNPATc.639T>C (p.Phe213=)
c.*325T>C (n.*325T>C)
c.609T>C (p.Phe203=)
c.456T>C (p.Phe152=)
c.636T>C (p.Phe212=)
c.312T>C (p.Phe104=)
1g.231265363T>GCA345233269GNPATc.639T>G (p.Phe213Leu)
c.*325T>G (n.*325T>G)
c.609T>G (p.Phe203Leu)
c.456T>G (p.Phe152Leu)
c.636T>G (p.Phe212Leu)
c.312T>G (p.Phe104Leu)
1g.231265364G>ACA345233272GNPATc.640G>A (p.Gly214Ser)
c.*326G>A (n.*326G>A)
c.610G>A (p.Gly204Ser)
c.457G>A (p.Gly153Ser)
c.637G>A (p.Gly213Ser)
c.313G>A (p.Gly105Ser)
 gnomAD v4
1g.231265364G>CCA345233274GNPATc.640G>C (p.Gly214Arg)
c.*326G>C (n.*326G>C)
c.610G>C (p.Gly204Arg)
c.457G>C (p.Gly153Arg)
c.637G>C (p.Gly213Arg)
c.313G>C (p.Gly105Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.231265364G=CA1226898728GNPATc.640G= (p.Gly214=)
c.*326G= (n.*326G=)
c.610G= (p.Gly204=)
c.457G= (p.Gly153=)
c.637G= (p.Gly213=)
c.313G= (p.Gly105=)
1g.231265364G>TCA345233276GNPATc.640G>T (p.Gly214Cys)
c.*326G>T (n.*326G>T)
c.610G>T (p.Gly204Cys)
c.457G>T (p.Gly153Cys)
c.637G>T (p.Gly213Cys)
c.313G>T (p.Gly105Cys)
1g.231265365G>ACA345233278GNPATc.641G>A (p.Gly214Asp)
c.*327G>A (n.*327G>A)
c.611G>A (p.Gly204Asp)
c.458G>A (p.Gly153Asp)
c.638G>A (p.Gly213Asp)
c.314G>A (p.Gly105Asp)
 dbSNP
1g.231265365G>CCA345233280GNPATc.641G>C (p.Gly214Ala)
c.*327G>C (n.*327G>C)
c.611G>C (p.Gly204Ala)
c.458G>C (p.Gly153Ala)
c.638G>C (p.Gly213Ala)
c.314G>C (p.Gly105Ala)
1g.231265365G=CA1226898729GNPATc.641G= (p.Gly214=)
c.*327G= (n.*327G=)
c.611G= (p.Gly204=)
c.458G= (p.Gly153=)
c.638G= (p.Gly213=)
c.314G= (p.Gly105=)
1g.231265365G>TCA345233282GNPATc.641G>T (p.Gly214Val)
c.*327G>T (n.*327G>T)
c.611G>T (p.Gly204Val)
c.458G>T (p.Gly153Val)
c.638G>T (p.Gly213Val)
c.314G>T (p.Gly105Val)
1g.231265366T>ACA423902400GNPATc.642T>A (p.Gly214=)
c.*328T>A (n.*328T>A)
c.612T>A (p.Gly204=)
c.459T>A (p.Gly153=)
c.639T>A (p.Gly213=)
c.315T>A (p.Gly105=)
1g.231265366T>CCA423902402GNPATc.642T>C (p.Gly214=)
c.*328T>C (n.*328T>C)
c.612T>C (p.Gly204=)
c.459T>C (p.Gly153=)
c.639T>C (p.Gly213=)
c.315T>C (p.Gly105=)
1g.231265366T>GCA423902404GNPATc.642T>G (p.Gly214=)
c.*328T>G (n.*328T>G)
c.612T>G (p.Gly204=)
c.459T>G (p.Gly153=)
c.639T>G (p.Gly213=)
c.315T>G (p.Gly105=)
 gnomAD v4
1g.231265367G>ACA1451842GNPATc.643G>A (p.Gly215Ser)
c.*329G>A (n.*329G>A)
c.613G>A (p.Gly205Ser)
c.460G>A (p.Gly154Ser)
c.640G>A (p.Gly214Ser)
c.316G>A (p.Gly106Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.231265367G>CCA345233286GNPATc.643G>C (p.Gly215Arg)
c.*329G>C (n.*329G>C)
c.613G>C (p.Gly205Arg)
c.460G>C (p.Gly154Arg)
c.640G>C (p.Gly214Arg)
c.316G>C (p.Gly106Arg)
1g.231265367G=CA1226898730GNPATc.643G= (p.Gly215=)
c.*329G= (n.*329G=)
c.613G= (p.Gly205=)
c.460G= (p.Gly154=)
c.640G= (p.Gly214=)
c.316G= (p.Gly106=)
1g.231265367G>TCA345233284GNPATc.643G>T (p.Gly215Cys)
c.*329G>T (n.*329G>T)
c.613G>T (p.Gly205Cys)
c.460G>T (p.Gly154Cys)
c.640G>T (p.Gly214Cys)
c.316G>T (p.Gly106Cys)
1g.231265368delCA2650998783GNPATc.644del (p.Gly215AlafsTer13)
c.*330del (n.*330del)
c.614del (p.Gly205AlafsTer13)
c.461del (p.Gly154AlafsTer13)
c.641del (p.Gly214AlafsTer13)
c.317del (p.Gly106AlafsTer13)
 gnomAD v4
1g.231265368G>ACA345233287GNPATc.644G>A (p.Gly215Asp)
c.*330G>A (n.*330G>A)
c.614G>A (p.Gly205Asp)
c.461G>A (p.Gly154Asp)
c.641G>A (p.Gly214Asp)
c.317G>A (p.Gly106Asp)
1g.231265368G>CCA345233290GNPATc.644G>C (p.Gly215Ala)
c.*330G>C (n.*330G>C)
c.614G>C (p.Gly205Ala)
c.461G>C (p.Gly154Ala)
c.641G>C (p.Gly214Ala)
c.317G>C (p.Gly106Ala)
1g.231265368G>TCA345233288GNPATc.644G>T (p.Gly215Val)
c.*330G>T (n.*330G>T)
c.614G>T (p.Gly205Val)
c.461G>T (p.Gly154Val)
c.641G>T (p.Gly214Val)
c.317G>T (p.Gly106Val)
1g.231265369C>ACA423902421GNPATc.645C>A (p.Gly215=)
c.*331C>A (n.*331C>A)
c.615C>A (p.Gly205=)
c.462C>A (p.Gly154=)
c.642C>A (p.Gly214=)
c.318C>A (p.Gly106=)
 gnomAD v4
1g.231265369C>GCA423902417GNPATc.645C>G (p.Gly215=)
c.*331C>G (n.*331C>G)
c.615C>G (p.Gly205=)
c.462C>G (p.Gly154=)
c.642C>G (p.Gly214=)
c.318C>G (p.Gly106=)
1g.231265369C>TCA423902419GNPATc.645C>T (p.Gly215=)
c.*331C>T (n.*331C>T)
c.615C>T (p.Gly205=)
c.462C>T (p.Gly154=)
c.642C>T (p.Gly214=)
c.318C>T (p.Gly106=)
1g.231265370A>CCA345233292GNPATc.646A>C (p.Asn216His)
c.*332A>C (n.*332A>C)
c.616A>C (p.Asn206His)
c.463A>C (p.Asn155His)
c.643A>C (p.Asn215His)
c.319A>C (p.Asn107His)
1g.231265370A>GCA345233295GNPATc.646A>G (p.Asn216Asp)
c.*332A>G (n.*332A>G)
c.616A>G (p.Asn206Asp)
c.463A>G (p.Asn155Asp)
c.643A>G (p.Asn215Asp)
c.319A>G (p.Asn107Asp)
1g.231265370A>TCA345233294GNPATc.646A>T (p.Asn216Tyr)
c.*332A>T (n.*332A>T)
c.616A>T (p.Asn206Tyr)
c.463A>T (p.Asn155Tyr)
c.643A>T (p.Asn215Tyr)
c.319A>T (p.Asn107Tyr)
1g.231265371A>CCA345233296GNPATc.647A>C (p.Asn216Thr)
c.*333A>C (n.*333A>C)
c.617A>C (p.Asn206Thr)
c.464A>C (p.Asn155Thr)
c.644A>C (p.Asn215Thr)
c.320A>C (p.Asn107Thr)
1g.231265371A>GCA345233297GNPATc.647A>G (p.Asn216Ser)
c.*333A>G (n.*333A>G)
c.617A>G (p.Asn206Ser)
c.464A>G (p.Asn155Ser)
c.644A>G (p.Asn215Ser)
c.320A>G (p.Asn107Ser)
 gnomAD v4
1g.231265371A>TCA345233298GNPATc.647A>T (p.Asn216Ile)
c.*333A>T (n.*333A>T)
c.617A>T (p.Asn206Ile)
c.464A>T (p.Asn155Ile)
c.644A>T (p.Asn215Ile)
c.320A>T (p.Asn107Ile)
1g.231265372T>ACA345233300GNPATc.648T>A (p.Asn216Lys)
c.*334T>A (n.*334T>A)
c.618T>A (p.Asn206Lys)
c.465T>A (p.Asn155Lys)
c.645T>A (p.Asn215Lys)
c.321T>A (p.Asn107Lys)
1g.231265372T>CCA423902431GNPATc.648T>C (p.Asn216=)
c.*334T>C (n.*334T>C)
c.618T>C (p.Asn206=)
c.465T>C (p.Asn155=)
c.645T>C (p.Asn215=)
c.321T>C (p.Asn107=)
1g.231265372T>GCA345233302GNPATc.648T>G (p.Asn216Lys)
c.*334T>G (n.*334T>G)
c.618T>G (p.Asn206Lys)
c.465T>G (p.Asn155Lys)
c.645T>G (p.Asn215Lys)
c.321T>G (p.Asn107Lys)
1g.231265373A>CCA345233303GNPATc.649A>C (p.Lys217Gln)
c.*335A>C (n.*335A>C)
c.619A>C (p.Lys207Gln)
c.466A>C (p.Lys156Gln)
c.646A>C (p.Lys216Gln)
c.322A>C (p.Lys108Gln)
1g.231265373A>GCA345233304GNPATc.649A>G (p.Lys217Glu)
c.*335A>G (n.*335A>G)
c.619A>G (p.Lys207Glu)
c.466A>G (p.Lys156Glu)
c.646A>G (p.Lys216Glu)
c.322A>G (p.Lys108Glu)
1g.231265373A>TCA345233305GNPATc.649A>T (p.Lys217Ter)
c.*335A>T (n.*335A>T)
c.619A>T (p.Lys207Ter)
c.466A>T (p.Lys156Ter)
c.646A>T (p.Lys216Ter)
c.322A>T (p.Lys108Ter)
1g.231265374A>CCA345233308GNPATc.650A>C (p.Lys217Thr)
c.*336A>C (n.*336A>C)
c.620A>C (p.Lys207Thr)
c.467A>C (p.Lys156Thr)
c.647A>C (p.Lys216Thr)
c.323A>C (p.Lys108Thr)
1g.231265374A>GCA345233309GNPATc.650A>G (p.Lys217Arg)
c.*336A>G (n.*336A>G)
c.620A>G (p.Lys207Arg)
c.467A>G (p.Lys156Arg)
c.647A>G (p.Lys216Arg)
c.323A>G (p.Lys108Arg)
1g.231265374A>TCA345233311GNPATc.650A>T (p.Lys217Ile)
c.*336A>T (n.*336A>T)
c.620A>T (p.Lys207Ile)
c.467A>T (p.Lys156Ile)
c.647A>T (p.Lys216Ile)
c.323A>T (p.Lys108Ile)
1g.231265375A=CA1226898731GNPATc.651A= (p.Lys217=)
c.*337A= (n.*337A=)
c.621A= (p.Lys207=)
c.468A= (p.Lys156=)
c.648A= (p.Lys216=)
c.324A= (p.Lys108=)
1g.231265375A>CCA345233314GNPATc.651A>C (p.Lys217Asn)
c.*337A>C (n.*337A>C)
c.621A>C (p.Lys207Asn)
c.468A>C (p.Lys156Asn)
c.648A>C (p.Lys216Asn)
c.324A>C (p.Lys108Asn)
1g.231265375A>GCA38977512GNPATc.651A>G (p.Lys217=)
c.*337A>G (n.*337A>G)
c.621A>G (p.Lys207=)
c.468A>G (p.Lys156=)
c.648A>G (p.Lys216=)
c.324A>G (p.Lys108=)
 dbSNP
1g.231265375A>TCA345233312GNPATc.651A>T (p.Lys217Asn)
c.*337A>T (n.*337A>T)
c.621A>T (p.Lys207Asn)
c.468A>T (p.Lys156Asn)
c.648A>T (p.Lys216Asn)
c.324A>T (p.Lys108Asn)
 dbSNP
1g.231265376C>ACA345233316GNPATc.652C>A (p.Leu218Ile)
c.*338C>A (n.*338C>A)
c.622C>A (p.Leu208Ile)
c.469C>A (p.Leu157Ile)
c.649C>A (p.Leu217Ile)
c.325C>A (p.Leu109Ile)
1g.231265376C=CA1226898732GNPATc.652C= (p.Leu218=)
c.*338C= (n.*338C=)
c.622C= (p.Leu208=)
c.469C= (p.Leu157=)
c.649C= (p.Leu217=)
c.325C= (p.Leu109=)
1g.231265376C>GCA345233318GNPATc.652C>G (p.Leu218Val)
c.*338C>G (n.*338C>G)
c.622C>G (p.Leu208Val)
c.469C>G (p.Leu157Val)
c.649C>G (p.Leu217Val)
c.325C>G (p.Leu109Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.231265376C>TCA345233320GNPATc.652C>T (p.Leu218Phe)
c.*338C>T (n.*338C>T)
c.622C>T (p.Leu208Phe)
c.469C>T (p.Leu157Phe)
c.649C>T (p.Leu217Phe)
c.325C>T (p.Leu109Phe)
 gnomAD v4
1g.231265377T>ACA345233322GNPATc.653T>A (p.Leu218His)
c.*339T>A (n.*339T>A)
c.623T>A (p.Leu208His)
c.470T>A (p.Leu157His)
c.650T>A (p.Leu217His)
c.326T>A (p.Leu109His)
1g.231265377T>CCA1451844GNPATc.653T>C (p.Leu218Pro)
c.*339T>C (n.*339T>C)
c.623T>C (p.Leu208Pro)
c.470T>C (p.Leu157Pro)
c.650T>C (p.Leu217Pro)
c.326T>C (p.Leu109Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.231265377T>GCA1451843GNPATc.653T>G (p.Leu218Arg)
c.*339T>G (n.*339T>G)
c.623T>G (p.Leu208Arg)
c.470T>G (p.Leu157Arg)
c.650T>G (p.Leu217Arg)
c.326T>G (p.Leu109Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.231265377T=CA1226898733GNPATc.653T= (p.Leu218=)
c.*339T= (n.*339T=)
c.623T= (p.Leu208=)
c.470T= (p.Leu157=)
c.650T= (p.Leu217=)
c.326T= (p.Leu109=)
1g.231265378C>ACA423902463GNPATc.654C>A (p.Leu218=)
c.*340C>A (n.*340C>A)
c.624C>A (p.Leu208=)
c.471C>A (p.Leu157=)
c.651C>A (p.Leu217=)
c.327C>A (p.Leu109=)
 gnomAD v4
1g.231265378C=CA1226898734GNPATc.654C= (p.Leu218=)
c.*340C= (n.*340C=)
c.624C= (p.Leu208=)
c.471C= (p.Leu157=)
c.651C= (p.Leu217=)
c.327C= (p.Leu109=)
1g.231265378C>GCA423902461GNPATc.654C>G (p.Leu218=)
c.*340C>G (n.*340C>G)
c.624C>G (p.Leu208=)
c.471C>G (p.Leu157=)
c.651C>G (p.Leu217=)
c.327C>G (p.Leu109=)
1g.231265378C>TCA423902459GNPATc.654C>T (p.Leu218=)
c.*340C>T (n.*340C>T)
c.624C>T (p.Leu208=)
c.471C>T (p.Leu157=)
c.651C>T (p.Leu217=)
c.327C>T (p.Leu109=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.231265379T>ACA345233326GNPATc.655T>A (p.Tyr219Asn)
c.*341T>A (n.*341T>A)
c.625T>A (p.Tyr209Asn)
c.472T>A (p.Tyr158Asn)
c.652T>A (p.Tyr218Asn)
c.328T>A (p.Tyr110Asn)
1g.231265379T>CCA345233327GNPATc.655T>C (p.Tyr219His)
c.*341T>C (n.*341T>C)
c.625T>C (p.Tyr209His)
c.472T>C (p.Tyr158His)
c.652T>C (p.Tyr218His)
c.328T>C (p.Tyr110His)
 gnomAD v4
1g.231265379T>GCA345233329GNPATc.655T>G (p.Tyr219Asp)
c.*341T>G (n.*341T>G)
c.625T>G (p.Tyr209Asp)
c.472T>G (p.Tyr158Asp)
c.652T>G (p.Tyr218Asp)
c.328T>G (p.Tyr110Asp)
1g.231265380A>CCA345233330GNPATc.656A>C (p.Tyr219Ser)
c.*342A>C (n.*342A>C)
c.626A>C (p.Tyr209Ser)
c.473A>C (p.Tyr158Ser)
c.653A>C (p.Tyr218Ser)
c.329A>C (p.Tyr110Ser)
1g.231265380A>GCA345233332GNPATc.656A>G (p.Tyr219Cys)
c.*342A>G (n.*342A>G)
c.626A>G (p.Tyr209Cys)
c.473A>G (p.Tyr158Cys)
c.653A>G (p.Tyr218Cys)
c.329A>G (p.Tyr110Cys)
1g.231265380A>TCA345233334GNPATc.656A>T (p.Tyr219Phe)
c.*342A>T (n.*342A>T)
c.626A>T (p.Tyr209Phe)
c.473A>T (p.Tyr158Phe)
c.653A>T (p.Tyr218Phe)
c.329A>T (p.Tyr110Phe)
1g.231265381C>ACA345233335GNPATc.657C>A (p.Tyr219Ter)
c.*343C>A (n.*343C>A)
c.627C>A (p.Tyr209Ter)
c.474C>A (p.Tyr158Ter)
c.654C>A (p.Tyr218Ter)
c.330C>A (p.Tyr110Ter)
1g.231265381C>GCA345233336GNPATc.657C>G (p.Tyr219Ter)
c.*343C>G (n.*343C>G)
c.627C>G (p.Tyr209Ter)
c.474C>G (p.Tyr158Ter)
c.654C>G (p.Tyr218Ter)
c.330C>G (p.Tyr110Ter)
1g.231265381C>TCA423902474GNPATc.657C>T (p.Tyr219=)
c.*343C>T (n.*343C>T)
c.627C>T (p.Tyr209=)
c.474C>T (p.Tyr158=)
c.654C>T (p.Tyr218=)
c.330C>T (p.Tyr110=)
1g.231265382T>ACA345233338GNPATc.658T>A (p.Trp220Arg)
c.*344T>A (n.*344T>A)
c.628T>A (p.Trp210Arg)
c.475T>A (p.Trp159Arg)
c.655T>A (p.Trp219Arg)
c.331T>A (p.Trp111Arg)
1g.231265382T>CCA345233340GNPATc.658T>C (p.Trp220Arg)
c.*344T>C (n.*344T>C)
c.628T>C (p.Trp210Arg)
c.475T>C (p.Trp159Arg)
c.655T>C (p.Trp219Arg)
c.331T>C (p.Trp111Arg)
1g.231265382T>GCA1451845GNPATc.658T>G (p.Trp220Gly)
c.*344T>G (n.*344T>G)
c.628T>G (p.Trp210Gly)
c.475T>G (p.Trp159Gly)
c.655T>G (p.Trp219Gly)
c.331T>G (p.Trp111Gly)
 dbSNP ExAC gnomAD v2
1g.231265382T=CA1226898735GNPATc.658T= (p.Trp220=)
c.*344T= (n.*344T=)
c.628T= (p.Trp210=)
c.475T= (p.Trp159=)
c.655T= (p.Trp219=)
c.331T= (p.Trp111=)
1g.231265383G>ACA345233343GNPATc.659G>A (p.Trp220Ter)
c.*345G>A (n.*345G>A)
c.629G>A (p.Trp210Ter)
c.476G>A (p.Trp159Ter)
c.656G>A (p.Trp219Ter)
c.332G>A (p.Trp111Ter)
1g.231265383G>CCA345233345GNPATc.659G>C (p.Trp220Ser)
c.*345G>C (n.*345G>C)
c.629G>C (p.Trp210Ser)
c.476G>C (p.Trp159Ser)
c.656G>C (p.Trp219Ser)
c.332G>C (p.Trp111Ser)
1g.231265383G>TCA345233347GNPATc.659G>T (p.Trp220Leu)
c.*345G>T (n.*345G>T)
c.629G>T (p.Trp210Leu)
c.476G>T (p.Trp159Leu)
c.656G>T (p.Trp219Leu)
c.332G>T (p.Trp111Leu)
1g.231265384G>ACA345233349GNPATc.660G>A (p.Trp220Ter)
c.*346G>A (n.*346G>A)
c.630G>A (p.Trp210Ter)
c.477G>A (p.Trp159Ter)
c.657G>A (p.Trp219Ter)
c.333G>A (p.Trp111Ter)
1g.231265384G>CCA345233351GNPATc.660G>C (p.Trp220Cys)
c.*346G>C (n.*346G>C)
c.630G>C (p.Trp210Cys)
c.477G>C (p.Trp159Cys)
c.657G>C (p.Trp219Cys)
c.333G>C (p.Trp111Cys)
1g.231265384G>TCA345233352GNPATc.660G>T (p.Trp220Cys)
c.*346G>T (n.*346G>T)
c.630G>T (p.Trp210Cys)
c.477G>T (p.Trp159Cys)
c.657G>T (p.Trp219Cys)
c.333G>T (p.Trp111Cys)
 ClinVar COSMIC
1g.231265385G>ACA1451846GNPATc.661G>A (p.Ala221Thr)
c.*347G>A (n.*347G>A)
c.631G>A (p.Ala211Thr)
c.478G>A (p.Ala160Thr)
c.658G>A (p.Ala220Thr)
c.334G>A (p.Ala112Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.231265385G>CCA345233355GNPATc.661G>C (p.Ala221Pro)
c.*347G>C (n.*347G>C)
c.631G>C (p.Ala211Pro)
c.478G>C (p.Ala160Pro)
c.658G>C (p.Ala220Pro)
c.334G>C (p.Ala112Pro)
1g.231265385G=CA1226898736GNPATc.661G= (p.Ala221=)
c.*347G= (n.*347G=)
c.631G= (p.Ala211=)
c.478G= (p.Ala160=)
c.658G= (p.Ala220=)
c.334G= (p.Ala112=)
1g.231265385G>TCA345233357GNPATc.661G>T (p.Ala221Ser)
c.*347G>T (n.*347G>T)
c.631G>T (p.Ala211Ser)
c.478G>T (p.Ala160Ser)
c.658G>T (p.Ala220Ser)
c.334G>T (p.Ala112Ser)
1g.231265386C>ACA345233363GNPATc.662C>A (p.Ala221Asp)
c.*348C>A (n.*348C>A)
c.632C>A (p.Ala211Asp)
c.479C>A (p.Ala160Asp)
c.659C>A (p.Ala220Asp)
c.335C>A (p.Ala112Asp)
1g.231265386C=CA1226898737GNPATc.662C= (p.Ala221=)
c.*348C= (n.*348C=)
c.632C= (p.Ala211=)
c.479C= (p.Ala160=)
c.659C= (p.Ala220=)
c.335C= (p.Ala112=)
1g.231265386C>GCA345233359GNPATc.662C>G (p.Ala221Gly)
c.*348C>G (n.*348C>G)
c.632C>G (p.Ala211Gly)
c.479C>G (p.Ala160Gly)
c.659C>G (p.Ala220Gly)
c.335C>G (p.Ala112Gly)
1g.231265386C>TCA345233361GNPATc.662C>T (p.Ala221Val)
c.*348C>T (n.*348C>T)
c.632C>T (p.Ala211Val)
c.479C>T (p.Ala160Val)
c.659C>T (p.Ala220Val)
c.335C>T (p.Ala112Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.231265387T>ACA423902499GNPATc.663T>A (p.Ala221=)
c.*349T>A (n.*349T>A)
c.633T>A (p.Ala211=)
c.480T>A (p.Ala160=)
c.660T>A (p.Ala220=)
c.336T>A (p.Ala112=)
1g.231265387T>CCA423902501GNPATc.663T>C (p.Ala221=)
c.*349T>C (n.*349T>C)
c.633T>C (p.Ala211=)
c.480T>C (p.Ala160=)
c.660T>C (p.Ala220=)
c.336T>C (p.Ala112=)
1g.231265387T>GCA423902504GNPATc.663T>G (p.Ala221=)
c.*349T>G (n.*349T>G)
c.633T>G (p.Ala211=)
c.480T>G (p.Ala160=)
c.660T>G (p.Ala220=)
c.336T>G (p.Ala112=)
1g.231265388G>ACA345233365GNPATc.664G>A (p.Val222Ile)
c.*350G>A (n.*350G>A)
c.634G>A (p.Val212Ile)
c.481G>A (p.Val161Ile)
c.661G>A (p.Val221Ile)
c.337G>A (p.Val113Ile)
 dbSNP
1g.231265388G>CCA345233367GNPATc.664G>C (p.Val222Leu)
c.*350G>C (n.*350G>C)
c.634G>C (p.Val212Leu)
c.481G>C (p.Val161Leu)
c.661G>C (p.Val221Leu)
c.337G>C (p.Val113Leu)
1g.231265388G=CA1226898738GNPATc.664G= (p.Val222=)
c.*350G= (n.*350G=)
c.634G= (p.Val212=)
c.481G= (p.Val161=)
c.661G= (p.Val221=)
c.337G= (p.Val113=)
1g.231265388G>TCA345233369GNPATc.664G>T (p.Val222Leu)
c.*350G>T (n.*350G>T)
c.634G>T (p.Val212Leu)
c.481G>T (p.Val161Leu)
c.661G>T (p.Val221Leu)
c.337G>T (p.Val113Leu)
 gnomAD v4
1g.231265389T>ACA345233370GNPATc.665T>A (p.Val222Glu)
c.*351T>A (n.*351T>A)
c.635T>A (p.Val212Glu)
c.482T>A (p.Val161Glu)
c.662T>A (p.Val221Glu)
c.338T>A (p.Val113Glu)
1g.231265389T>CCA345233372GNPATc.665T>C (p.Val222Ala)
c.*351T>C (n.*351T>C)
c.635T>C (p.Val212Ala)
c.482T>C (p.Val161Ala)
c.662T>C (p.Val221Ala)
c.338T>C (p.Val113Ala)
1g.231265389T>GCA345233373GNPATc.665T>G (p.Val222Gly)
c.*351T>G (n.*351T>G)
c.635T>G (p.Val212Gly)
c.482T>G (p.Val161Gly)
c.662T>G (p.Val221Gly)
c.338T>G (p.Val113Gly)
1g.231265390A>CCA423902514GNPATc.666A>C (p.Val222=)
c.*352A>C (n.*352A>C)
c.636A>C (p.Val212=)
c.483A>C (p.Val161=)
c.663A>C (p.Val221=)
c.339A>C (p.Val113=)
1g.231265390A>GCA423902516GNPATc.666A>G (p.Val222=)
c.*352A>G (n.*352A>G)
c.636A>G (p.Val212=)
c.483A>G (p.Val161=)
c.663A>G (p.Val221=)
c.339A>G (p.Val113=)
 ClinVar gnomAD v4
1g.231265390A>TCA423902518GNPATc.666A>T (p.Val222=)
c.*352A>T (n.*352A>T)
c.636A>T (p.Val212=)
c.483A>T (p.Val161=)
c.663A>T (p.Val221=)
c.339A>T (p.Val113=)
1g.231265391T>ACA345233375GNPATc.667T>A (p.Phe223Ile)
c.*353T>A (n.*353T>A)
c.637T>A (p.Phe213Ile)
c.484T>A (p.Phe162Ile)
c.664T>A (p.Phe222Ile)
c.340T>A (p.Phe114Ile)
1g.231265391T>CCA345233376GNPATc.667T>C (p.Phe223Leu)
c.*353T>C (n.*353T>C)
c.637T>C (p.Phe213Leu)
c.484T>C (p.Phe162Leu)
c.664T>C (p.Phe222Leu)
c.340T>C (p.Phe114Leu)
1g.231265391T>GCA345233378GNPATc.667T>G (p.Phe223Val)
c.*353T>G (n.*353T>G)
c.637T>G (p.Phe213Val)
c.484T>G (p.Phe162Val)
c.664T>G (p.Phe222Val)
c.340T>G (p.Phe114Val)
1g.231265392T>ACA345233380GNPATc.668T>A (p.Phe223Tyr)
c.*354T>A (n.*354T>A)
c.638T>A (p.Phe213Tyr)
c.485T>A (p.Phe162Tyr)
c.665T>A (p.Phe222Tyr)
c.341T>A (p.Phe114Tyr)
1g.231265392T>CCA38977542GNPATc.668T>C (p.Phe223Ser)
c.*354T>C (n.*354T>C)
c.638T>C (p.Phe213Ser)
c.485T>C (p.Phe162Ser)
c.665T>C (p.Phe222Ser)
c.341T>C (p.Phe114Ser)
 dbSNP
1g.231265392T>GCA345233382GNPATc.668T>G (p.Phe223Cys)
c.*354T>G (n.*354T>G)
c.638T>G (p.Phe213Cys)
c.485T>G (p.Phe162Cys)
c.665T>G (p.Phe222Cys)
c.341T>G (p.Phe114Cys)
1g.231265392T=CA1143435300GNPATc.668T= (p.Phe223=)
c.*354T= (n.*354T=)
c.638T= (p.Phe213=)
c.485T= (p.Phe162=)
c.665T= (p.Phe222=)
c.341T= (p.Phe114=)
1g.231265393C>ACA345233386GNPATc.669C>A (p.Phe223Leu)
c.*355C>A (n.*355C>A)
c.639C>A (p.Phe213Leu)
c.486C>A (p.Phe162Leu)
c.666C>A (p.Phe222Leu)
c.342C>A (p.Phe114Leu)
 COSMIC
1g.231265393C>GCA345233385GNPATc.669C>G (p.Phe223Leu)
c.*355C>G (n.*355C>G)
c.639C>G (p.Phe213Leu)
c.486C>G (p.Phe162Leu)
c.666C>G (p.Phe222Leu)
c.342C>G (p.Phe114Leu)
1g.231265393C>TCA423902532GNPATc.669C>T (p.Phe223=)
c.*355C>T (n.*355C>T)
c.639C>T (p.Phe213=)
c.486C>T (p.Phe162=)
c.666C>T (p.Phe222=)
c.342C>T (p.Phe114=)
1g.231265394T>ACA345233388GNPATc.670T>A (p.Ser224Thr)
c.*356T>A (n.*356T>A)
c.640T>A (p.Ser214Thr)
c.487T>A (p.Ser163Thr)
c.667T>A (p.Ser223Thr)
c.343T>A (p.Ser115Thr)
1g.231265394T>CCA345233392GNPATc.670T>C (p.Ser224Pro)
c.*356T>C (n.*356T>C)
c.640T>C (p.Ser214Pro)
c.487T>C (p.Ser163Pro)
c.667T>C (p.Ser223Pro)
c.343T>C (p.Ser115Pro)
 gnomAD v4
1g.231265394T>GCA345233390GNPATc.670T>G (p.Ser224Ala)
c.*356T>G (n.*356T>G)
c.640T>G (p.Ser214Ala)
c.487T>G (p.Ser163Ala)
c.667T>G (p.Ser223Ala)
c.343T>G (p.Ser115Ala)
1g.231265395C>ACA345233393GNPATc.671C>A (p.Ser224Tyr)
c.*357C>A (n.*357C>A)
c.641C>A (p.Ser214Tyr)
c.488C>A (p.Ser163Tyr)
c.668C>A (p.Ser223Tyr)
c.344C>A (p.Ser115Tyr)
1g.231265395C=CA1226898739GNPATc.671C= (p.Ser224=)
c.*357C= (n.*357C=)
c.641C= (p.Ser214=)
c.488C= (p.Ser163=)
c.668C= (p.Ser223=)
c.344C= (p.Ser115=)
1g.231265395C>GCA345233394GNPATc.671C>G (p.Ser224Cys)
c.*357C>G (n.*357C>G)
c.641C>G (p.Ser214Cys)
c.488C>G (p.Ser163Cys)
c.668C>G (p.Ser223Cys)
c.344C>G (p.Ser115Cys)
1g.231265395C>TCA1451847GNPATc.671C>T (p.Ser224Phe)
c.*357C>T (n.*357C>T)
c.641C>T (p.Ser214Phe)
c.488C>T (p.Ser163Phe)
c.668C>T (p.Ser223Phe)
c.344C>T (p.Ser115Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.231265396T>ACA423902542GNPATc.672T>A (p.Ser224=)
c.*358T>A (n.*358T>A)
c.642T>A (p.Ser214=)
c.489T>A (p.Ser163=)
c.669T>A (p.Ser223=)
c.345T>A (p.Ser115=)
 gnomAD v4
1g.231265396T>CCA423902547GNPATc.672T>C (p.Ser224=)
c.*358T>C (n.*358T>C)
c.642T>C (p.Ser214=)
c.489T>C (p.Ser163=)
c.669T>C (p.Ser223=)
c.345T>C (p.Ser115=)
1g.231265396T>GCA423902544GNPATc.672T>G (p.Ser224=)
c.*358T>G (n.*358T>G)
c.642T>G (p.Ser214=)
c.489T>G (p.Ser163=)
c.669T>G (p.Ser223=)
c.345T>G (p.Ser115=)
1g.231265397G>ACA345233397GNPATc.673G>A (p.Glu225Lys)
c.*359G>A (n.*359G>A)
c.643G>A (p.Glu215Lys)
c.490G>A (p.Glu164Lys)
c.670G>A (p.Glu224Lys)
c.346G>A (p.Glu116Lys)
1g.231265397G>CCA345233399GNPATc.673G>C (p.Glu225Gln)
c.*359G>C (n.*359G>C)
c.643G>C (p.Glu215Gln)
c.490G>C (p.Glu164Gln)
c.670G>C (p.Glu224Gln)
c.346G>C (p.Glu116Gln)
1g.231265397G>TCA345233400GNPATc.673G>T (p.Glu225Ter)
c.*359G>T (n.*359G>T)
c.643G>T (p.Glu215Ter)
c.490G>T (p.Glu164Ter)
c.670G>T (p.Glu224Ter)
c.346G>T (p.Glu116Ter)
1g.231265398A=CA1226898740GNPATc.674A= (p.Glu225=)
c.*360A= (n.*360A=)
c.644A= (p.Glu215=)
c.491A= (p.Glu164=)
c.671A= (p.Glu224=)
c.347A= (p.Glu116=)
1g.231265398A>CCA345233402GNPATc.674A>C (p.Glu225Ala)
c.*360A>C (n.*360A>C)
c.644A>C (p.Glu215Ala)
c.491A>C (p.Glu164Ala)
c.671A>C (p.Glu224Ala)
c.347A>C (p.Glu116Ala)
1g.231265398A>GCA345233404GNPATc.674A>G (p.Glu225Gly)
c.*360A>G (n.*360A>G)
c.644A>G (p.Glu215Gly)
c.491A>G (p.Glu164Gly)
c.671A>G (p.Glu224Gly)
c.347A>G (p.Glu116Gly)
 dbSNP
1g.231265398A>TCA345233406GNPATc.674A>T (p.Glu225Val)
c.*360A>T (n.*360A>T)
c.644A>T (p.Glu215Val)
c.491A>T (p.Glu164Val)
c.671A>T (p.Glu224Val)
c.347A>T (p.Glu116Val)
1g.231265399A>CCA345233408GNPATc.675A>C (p.Glu225Asp)
c.*361A>C (n.*361A>C)
c.645A>C (p.Glu215Asp)
c.492A>C (p.Glu164Asp)
c.672A>C (p.Glu224Asp)
c.348A>C (p.Glu116Asp)
1g.231265399A>GCA423902558GNPATc.675A>G (p.Glu225=)
c.*361A>G (n.*361A>G)
c.645A>G (p.Glu215=)
c.492A>G (p.Glu164=)
c.672A>G (p.Glu224=)
c.348A>G (p.Glu116=)
1g.231265399A>TCA345233410GNPATc.675A>T (p.Glu225Asp)
c.*361A>T (n.*361A>T)
c.645A>T (p.Glu215Asp)
c.492A>T (p.Glu164Asp)
c.672A>T (p.Glu224Asp)
c.348A>T (p.Glu116Asp)
 gnomAD v4
1g.231265400T>ACA345233415GNPATc.676T>A (p.Tyr226Asn)
c.*362T>A (n.*362T>A)
c.646T>A (p.Tyr216Asn)
c.493T>A (p.Tyr165Asn)
c.673T>A (p.Tyr225Asn)
c.349T>A (p.Tyr117Asn)
 dbSNP
1g.231265400T>CCA345233412GNPATc.676T>C (p.Tyr226His)
c.*362T>C (n.*362T>C)
c.646T>C (p.Tyr216His)
c.493T>C (p.Tyr165His)
c.673T>C (p.Tyr225His)
c.349T>C (p.Tyr117His)
1g.231265400T>GCA345233413GNPATc.676T>G (p.Tyr226Asp)
c.*362T>G (n.*362T>G)
c.646T>G (p.Tyr216Asp)
c.493T>G (p.Tyr165Asp)
c.673T>G (p.Tyr225Asp)
c.349T>G (p.Tyr117Asp)
 gnomAD v4
1g.231265400T=CA1226898741GNPATc.676T= (p.Tyr226=)
c.*362T= (n.*362T=)
c.646T= (p.Tyr216=)
c.493T= (p.Tyr165=)
c.673T= (p.Tyr225=)
c.349T= (p.Tyr117=)
1g.231265401A>CCA345233417GNPATc.677A>C (p.Tyr226Ser)
c.*363A>C (n.*363A>C)
c.647A>C (p.Tyr216Ser)
c.494A>C (p.Tyr165Ser)
c.674A>C (p.Tyr225Ser)
c.350A>C (p.Tyr117Ser)
1g.231265401A>GCA345233418GNPATc.677A>G (p.Tyr226Cys)
c.*363A>G (n.*363A>G)
c.647A>G (p.Tyr216Cys)
c.494A>G (p.Tyr165Cys)
c.674A>G (p.Tyr225Cys)
c.350A>G (p.Tyr117Cys)
1g.231265401A>TCA345233420GNPATc.677A>T (p.Tyr226Phe)
c.*363A>T (n.*363A>T)
c.647A>T (p.Tyr216Phe)
c.494A>T (p.Tyr165Phe)
c.674A>T (p.Tyr225Phe)
c.350A>T (p.Tyr117Phe)
1g.231265402T>ACA345233422GNPATc.678T>A (p.Tyr226Ter)
c.*364T>A (n.*364T>A)
c.648T>A (p.Tyr216Ter)
c.495T>A (p.Tyr165Ter)
c.675T>A (p.Tyr225Ter)
c.351T>A (p.Tyr117Ter)
1g.231265402T>CCA423902568GNPATc.678T>C (p.Tyr226=)
c.*364T>C (n.*364T>C)
c.648T>C (p.Tyr216=)
c.495T>C (p.Tyr165=)
c.675T>C (p.Tyr225=)
c.351T>C (p.Tyr117=)
 gnomAD v4
1g.231265402T>GCA345233424GNPATc.678T>G (p.Tyr226Ter)
c.*364T>G (n.*364T>G)
c.648T>G (p.Tyr216Ter)
c.495T>G (p.Tyr165Ter)
c.675T>G (p.Tyr225Ter)
c.351T>G (p.Tyr117Ter)
1g.231265403G>ACA345233425GNPATc.679G>A (p.Val227Ile)
c.*365G>A (n.*365G>A)
c.649G>A (p.Val217Ile)
c.496G>A (p.Val166Ile)
c.676G>A (p.Val226Ile)
c.352G>A (p.Val118Ile)
1g.231265403G>CCA345233427GNPATc.679G>C (p.Val227Leu)
c.*365G>C (n.*365G>C)
c.649G>C (p.Val217Leu)
c.496G>C (p.Val166Leu)
c.676G>C (p.Val226Leu)
c.352G>C (p.Val118Leu)
1g.231265403G>TCA345233429GNPATc.679G>T (p.Val227Leu)
c.*365G>T (n.*365G>T)
c.649G>T (p.Val217Leu)
c.496G>T (p.Val166Leu)
c.676G>T (p.Val226Leu)
c.352G>T (p.Val118Leu)
1g.231265404T>ACA345233431GNPATc.680T>A (p.Val227Glu)
c.*366T>A (n.*366T>A)
c.650T>A (p.Val217Glu)
c.497T>A (p.Val166Glu)
c.677T>A (p.Val226Glu)
c.353T>A (p.Val118Glu)
 gnomAD v4
1g.231265404T>CCA345233433GNPATc.680T>C (p.Val227Ala)
c.*366T>C (n.*366T>C)
c.650T>C (p.Val217Ala)
c.497T>C (p.Val166Ala)
c.677T>C (p.Val226Ala)
c.353T>C (p.Val118Ala)
1g.231265404T>GCA345233435GNPATc.680T>G (p.Val227Gly)
c.*366T>G (n.*366T>G)
c.650T>G (p.Val217Gly)
c.497T>G (p.Val166Gly)
c.677T>G (p.Val226Gly)
c.353T>G (p.Val118Gly)
1g.231265405A>CCA423902580GNPATc.681A>C (p.Val227=)
c.*367A>C (n.*367A>C)
c.651A>C (p.Val217=)
c.498A>C (p.Val166=)
c.678A>C (p.Val226=)
c.354A>C (p.Val118=)
1g.231265405A>GCA423902581GNPATc.681A>G (p.Val227=)
c.*367A>G (n.*367A>G)
c.651A>G (p.Val217=)
c.498A>G (p.Val166=)
c.678A>G (p.Val226=)
c.354A>G (p.Val118=)
1g.231265405A>TCA423902584GNPATc.681A>T (p.Val227=)
c.*367A>T (n.*367A>T)
c.651A>T (p.Val217=)
c.498A>T (p.Val166=)
c.678A>T (p.Val226=)
c.354A>T (p.Val118=)
1g.231265409delCA2650998784GNPATc.685del (p.Thr229LeufsTer25)
c.*371del (n.*371del)
c.655del (p.Thr219LeufsTer25)
c.502del (p.Thr168LeufsTer25)
c.682del (p.Thr228LeufsTer25)
c.358del (p.Thr120LeufsTer25)
 dbSNP gnomAD v4
1g.231265406A>CCA345233438GNPATc.682A>C (p.Lys228Gln)
c.*368A>C (n.*368A>C)
c.652A>C (p.Lys218Gln)
c.499A>C (p.Lys167Gln)
c.679A>C (p.Lys227Gln)
c.355A>C (p.Lys119Gln)
1g.231265406A>GCA345233439GNPATc.682A>G (p.Lys228Glu)
c.*368A>G (n.*368A>G)
c.652A>G (p.Lys218Glu)
c.499A>G (p.Lys167Glu)
c.679A>G (p.Lys227Glu)
c.355A>G (p.Lys119Glu)
 gnomAD v4
1g.231265406A>TCA345233436GNPATc.682A>T (p.Lys228Ter)
c.*368A>T (n.*368A>T)
c.652A>T (p.Lys218Ter)
c.499A>T (p.Lys167Ter)
c.679A>T (p.Lys227Ter)
c.355A>T (p.Lys119Ter)
1g.231265407A=CA1226898742GNPATc.683A= (p.Lys228=)
c.*369A= (n.*369A=)
c.653A= (p.Lys218=)
c.500A= (p.Lys167=)
c.680A= (p.Lys227=)
c.356A= (p.Lys119=)
1g.231265407A>CCA345233441GNPATc.683A>C (p.Lys228Thr)
c.*369A>C (n.*369A>C)
c.653A>C (p.Lys218Thr)
c.500A>C (p.Lys167Thr)
c.680A>C (p.Lys227Thr)
c.356A>C (p.Lys119Thr)
1g.231265407A>GCA1451848GNPATc.683A>G (p.Lys228Arg)
c.*369A>G (n.*369A>G)
c.653A>G (p.Lys218Arg)
c.500A>G (p.Lys167Arg)
c.680A>G (p.Lys227Arg)
c.356A>G (p.Lys119Arg)
 dbSNP ExAC gnomAD v4
1g.231265407A>TCA345233443GNPATc.683A>T (p.Lys228Ile)
c.*369A>T (n.*369A>T)
c.653A>T (p.Lys218Ile)
c.500A>T (p.Lys167Ile)
c.680A>T (p.Lys227Ile)
c.356A>T (p.Lys119Ile)
1g.231265408A=CA1226898743GNPATc.684A= (p.Lys228=)
c.*370A= (n.*370A=)
c.654A= (p.Lys218=)
c.501A= (p.Lys167=)
c.681A= (p.Lys227=)
c.357A= (p.Lys119=)
1g.231265408A>CCA345233445GNPATc.684A>C (p.Lys228Asn)
c.*370A>C (n.*370A>C)
c.654A>C (p.Lys218Asn)
c.501A>C (p.Lys167Asn)
c.681A>C (p.Lys227Asn)
c.357A>C (p.Lys119Asn)
1g.231265408A>GCA423902597GNPATc.684A>G (p.Lys228=)
c.*370A>G (n.*370A>G)
c.654A>G (p.Lys218=)
c.501A>G (p.Lys167=)
c.681A>G (p.Lys227=)
c.357A>G (p.Lys119=)
 dbSNP gnomAD v2 gnomAD v4
1g.231265408A>TCA345233447GNPATc.684A>T (p.Lys228Asn)
c.*370A>T (n.*370A>T)
c.654A>T (p.Lys218Asn)
c.501A>T (p.Lys167Asn)
c.681A>T (p.Lys227Asn)
c.357A>T (p.Lys119Asn)
1g.231265409A>CCA345233453GNPATc.685A>C (p.Thr229Pro)
c.*371A>C (n.*371A>C)
c.655A>C (p.Thr219Pro)
c.502A>C (p.Thr168Pro)
c.682A>C (p.Thr228Pro)
c.358A>C (p.Thr120Pro)
1g.231265409A>GCA345233451GNPATc.685A>G (p.Thr229Ala)
c.*371A>G (n.*371A>G)
c.655A>G (p.Thr219Ala)
c.502A>G (p.Thr168Ala)
c.682A>G (p.Thr228Ala)
c.358A>G (p.Thr120Ala)
1g.231265409A>TCA345233449GNPATc.685A>T (p.Thr229Ser)
c.*371A>T (n.*371A>T)
c.655A>T (p.Thr219Ser)
c.502A>T (p.Thr168Ser)
c.682A>T (p.Thr228Ser)
c.358A>T (p.Thr120Ser)
1g.231265410C>ACA345233455GNPATc.686C>A (p.Thr229Asn)
c.*372C>A (n.*372C>A)
c.656C>A (p.Thr219Asn)
c.503C>A (p.Thr168Asn)
c.683C>A (p.Thr228Asn)
c.359C>A (p.Thr120Asn)
1g.231265410C>GCA345233457GNPATc.686C>G (p.Thr229Ser)
c.*372C>G (n.*372C>G)
c.656C>G (p.Thr219Ser)
c.503C>G (p.Thr168Ser)
c.683C>G (p.Thr228Ser)
c.359C>G (p.Thr120Ser)
1g.231265410C>TCA345233459GNPATc.686C>T (p.Thr229Ile)
c.*372C>T (n.*372C>T)
c.656C>T (p.Thr219Ile)
c.503C>T (p.Thr168Ile)
c.683C>T (p.Thr228Ile)
c.359C>T (p.Thr120Ile)
1g.231265411T>ACA423902610GNPATc.687T>A (p.Thr229=)
c.*373T>A (n.*373T>A)
c.657T>A (p.Thr219=)
c.504T>A (p.Thr168=)
c.684T>A (p.Thr228=)
c.360T>A (p.Thr120=)
1g.231265411T>CCA423902607GNPATc.687T>C (p.Thr229=)
c.*373T>C (n.*373T>C)
c.657T>C (p.Thr219=)
c.504T>C (p.Thr168=)
c.684T>C (p.Thr228=)
c.360T>C (p.Thr120=)
1g.231265411T>GCA423902608GNPATc.687T>G (p.Thr229=)
c.*373T>G (n.*373T>G)
c.657T>G (p.Thr219=)
c.504T>G (p.Thr168=)
c.684T>G (p.Thr228=)
c.360T>G (p.Thr120=)
1g.231265412A=CA1226898744GNPATc.688A= (p.Met230=)
c.*374A= (n.*374A=)
c.658A= (p.Met220=)
c.505A= (p.Met169=)
c.685A= (p.Met229=)
c.361A= (p.Met121=)
1g.231265412A>CCA345233461GNPATc.688A>C (p.Met230Leu)
c.*374A>C (n.*374A>C)
c.658A>C (p.Met220Leu)
c.505A>C (p.Met169Leu)
c.685A>C (p.Met229Leu)
c.361A>C (p.Met121Leu)
 gnomAD v4
1g.231265412A>GCA345233462GNPATc.688A>G (p.Met230Val)
c.*374A>G (n.*374A>G)
c.658A>G (p.Met220Val)
c.505A>G (p.Met169Val)
c.685A>G (p.Met229Val)
c.361A>G (p.Met121Val)
 dbSNP gnomAD v2 gnomAD v4
1g.231265412A>TCA345233464GNPATc.688A>T (p.Met230Leu)
c.*374A>T (n.*374A>T)
c.658A>T (p.Met220Leu)
c.505A>T (p.Met169Leu)
c.685A>T (p.Met229Leu)
c.361A>T (p.Met121Leu)
1g.231265413T>ACA345233466GNPATc.689T>A (p.Met230Lys)
c.*375T>A (n.*375T>A)
c.659T>A (p.Met220Lys)
c.506T>A (p.Met169Lys)
c.686T>A (p.Met229Lys)
c.362T>A (p.Met121Lys)
1g.231265413T>CCA345233470GNPATc.689T>C (p.Met230Thr)
c.*375T>C (n.*375T>C)
c.659T>C (p.Met220Thr)
c.506T>C (p.Met169Thr)
c.686T>C (p.Met229Thr)
c.362T>C (p.Met121Thr)
1g.231265413T>GCA345233468GNPATc.689T>G (p.Met230Arg)
c.*375T>G (n.*375T>G)
c.659T>G (p.Met220Arg)
c.506T>G (p.Met169Arg)
c.686T>G (p.Met229Arg)
c.362T>G (p.Met121Arg)
1g.231265414G>ACA345233472GNPATc.690G>A (p.Met230Ile)
c.*376G>A (n.*376G>A)
c.660G>A (p.Met220Ile)
c.507G>A (p.Met169Ile)
c.687G>A (p.Met229Ile)
c.363G>A (p.Met121Ile)
 gnomAD v4
1g.231265414G>CCA345233474GNPATc.690G>C (p.Met230Ile)
c.*376G>C (n.*376G>C)
c.660G>C (p.Met220Ile)
c.507G>C (p.Met169Ile)
c.687G>C (p.Met229Ile)
c.363G>C (p.Met121Ile)
1g.231265414G>TCA345233475GNPATc.690G>T (p.Met230Ile)
c.*376G>T (n.*376G>T)
c.660G>T (p.Met220Ile)
c.507G>T (p.Met169Ile)
c.687G>T (p.Met229Ile)
c.363G>T (p.Met121Ile)
1g.231265415T>ACA345233477GNPATc.691T>A (p.Leu231Ile)
c.*377T>A (n.*377T>A)
c.661T>A (p.Leu221Ile)
c.508T>A (p.Leu170Ile)
c.688T>A (p.Leu230Ile)
c.364T>A (p.Leu122Ile)
1g.231265415T>CCA423902626GNPATc.691T>C (p.Leu231=)
c.*377T>C (n.*377T>C)
c.661T>C (p.Leu221=)
c.508T>C (p.Leu170=)
c.688T>C (p.Leu230=)
c.364T>C (p.Leu122=)
1g.231265415T>GCA345233479GNPATc.691T>G (p.Leu231Val)
c.*377T>G (n.*377T>G)
c.661T>G (p.Leu221Val)
c.508T>G (p.Leu170Val)
c.688T>G (p.Leu230Val)
c.364T>G (p.Leu122Val)
1g.231265416T>ACA345233481GNPATc.692T>A (p.Leu231Ter)
c.*378T>A (n.*378T>A)
c.662T>A (p.Leu221Ter)
c.509T>A (p.Leu170Ter)
c.689T>A (p.Leu230Ter)
c.365T>A (p.Leu122Ter)
1g.231265416T>CCA345233483GNPATc.692T>C (p.Leu231Ser)
c.*378T>C (n.*378T>C)
c.662T>C (p.Leu221Ser)
c.509T>C (p.Leu170Ser)
c.689T>C (p.Leu230Ser)
c.365T>C (p.Leu122Ser)
1g.231265416T>GCA345233484GNPATc.692T>G (p.Leu231Ter)
c.*378T>G (n.*378T>G)
c.662T>G (p.Leu221Ter)
c.509T>G (p.Leu170Ter)
c.689T>G (p.Leu230Ter)
c.365T>G (p.Leu122Ter)
1g.231265417A>CCA345233486GNPATc.693A>C (p.Leu231Phe)
c.*379A>C (n.*379A>C)
c.663A>C (p.Leu221Phe)
c.510A>C (p.Leu170Phe)
c.690A>C (p.Leu230Phe)
c.366A>C (p.Leu122Phe)
1g.231265417A>GCA423902635GNPATc.693A>G (p.Leu231=)
c.*379A>G (n.*379A>G)
c.663A>G (p.Leu221=)
c.510A>G (p.Leu170=)
c.690A>G (p.Leu230=)
c.366A>G (p.Leu122=)
1g.231265417A>TCA345233488GNPATc.693A>T (p.Leu231Phe)
c.*379A>T (n.*379A>T)
c.663A>T (p.Leu221Phe)
c.510A>T (p.Leu170Phe)
c.690A>T (p.Leu230Phe)
c.366A>T (p.Leu122Phe)
 gnomAD v4
1g.231265418C>ACA423902639GNPATc.694C>A (p.Arg232=)
c.*380C>A (n.*380C>A)
c.664C>A (p.Arg222=)
c.511C>A (p.Arg171=)
c.691C>A (p.Arg231=)
c.367C>A (p.Arg123=)
 gnomAD v4
1g.231265418C=CA1226898745GNPATc.694C= (p.Arg232=)
c.*380C= (n.*380C=)
c.664C= (p.Arg222=)
c.511C= (p.Arg171=)
c.691C= (p.Arg231=)
c.367C= (p.Arg123=)
1g.231265418C>GCA345233490GNPATc.694C>G (p.Arg232Gly)
c.*380C>G (n.*380C>G)
c.664C>G (p.Arg222Gly)
c.511C>G (p.Arg171Gly)
c.691C>G (p.Arg231Gly)
c.367C>G (p.Arg123Gly)
1g.231265418C>TCA1451849GNPATc.694C>T (p.Arg232Trp)
c.*380C>T (n.*380C>T)
c.664C>T (p.Arg222Trp)
c.511C>T (p.Arg171Trp)
c.691C>T (p.Arg231Trp)
c.367C>T (p.Arg123Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.231265419G>ACA1451850GNPATc.695G>A (p.Arg232Gln)
c.*381G>A (n.*381G>A)
c.665G>A (p.Arg222Gln)
c.512G>A (p.Arg171Gln)
c.692G>A (p.Arg231Gln)
c.368G>A (p.Arg123Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.231265419G>CCA345233496GNPATc.695G>C (p.Arg232Pro)
c.*381G>C (n.*381G>C)
c.665G>C (p.Arg222Pro)
c.512G>C (p.Arg171Pro)
c.692G>C (p.Arg231Pro)
c.368G>C (p.Arg123Pro)
1g.231265419G=CA1226898746GNPATc.695G= (p.Arg232=)
c.*381G= (n.*381G=)
c.665G= (p.Arg222=)
c.512G= (p.Arg171=)
c.692G= (p.Arg231=)
c.368G= (p.Arg123=)
1g.231265419G>TCA345233493GNPATc.695G>T (p.Arg232Leu)
c.*381G>T (n.*381G>T)
c.665G>T (p.Arg222Leu)
c.512G>T (p.Arg171Leu)
c.692G>T (p.Arg231Leu)
c.368G>T (p.Arg123Leu)
1g.231265420G>ACA423902648GNPATc.696G>A (p.Arg232=)
c.*382G>A (n.*382G>A)
c.666G>A (p.Arg222=)
c.513G>A (p.Arg171=)
c.693G>A (p.Arg231=)
c.369G>A (p.Arg123=)
1g.231265420G>CCA423902649GNPATc.696G>C (p.Arg232=)
c.*382G>C (n.*382G>C)
c.666G>C (p.Arg222=)
c.513G>C (p.Arg171=)
c.693G>C (p.Arg231=)
c.369G>C (p.Arg123=)
1g.231265420G>TCA423902652GNPATc.696G>T (p.Arg232=)
c.*382G>T (n.*382G>T)
c.666G>T (p.Arg222=)
c.513G>T (p.Arg171=)
c.693G>T (p.Arg231=)
c.369G>T (p.Arg123=)
1g.231265421G>ACA345233500GNPATc.696+1G>A (n.696+1G>A)
c.*382+1G>A (n.*382+1G>A)
c.666+1G>A (n.666+1G>A)
c.513+1G>A (n.513+1G>A)
c.693+1G>A (n.693+1G>A)
c.369+1G>A (n.369+1G>A)
 ClinVar gnomAD v4
1g.231265421G>CCA345233498GNPATc.696+1G>C (n.696+1G>C)
c.*382+1G>C (n.*382+1G>C)
c.666+1G>C (n.666+1G>C)
c.513+1G>C (n.513+1G>C)
c.693+1G>C (n.693+1G>C)
c.369+1G>C (n.369+1G>C)
1g.231265421G>TCA345233501GNPATc.696+1G>T (n.696+1G>T)
c.*382+1G>T (n.*382+1G>T)
c.666+1G>T (n.666+1G>T)
c.513+1G>T (n.513+1G>T)
c.693+1G>T (n.693+1G>T)
c.369+1G>T (n.369+1G>T)
1g.231265422T>ACA345233503GNPATc.696+2T>A (n.696+2T>A)
c.*382+2T>A (n.*382+2T>A)
c.666+2T>A (n.666+2T>A)
c.513+2T>A (n.513+2T>A)
c.693+2T>A (n.693+2T>A)
c.369+2T>A (n.369+2T>A)
1g.231265422T>CCA345233507GNPATc.696+2T>C (n.696+2T>C)
c.*382+2T>C (n.*382+2T>C)
c.666+2T>C (n.666+2T>C)
c.513+2T>C (n.513+2T>C)
c.693+2T>C (n.693+2T>C)
c.369+2T>C (n.369+2T>C)
 ClinVar
1g.231265422T>GCA345233505GNPATc.696+2T>G (n.696+2T>G)
c.*382+2T>G (n.*382+2T>G)
c.666+2T>G (n.666+2T>G)
c.513+2T>G (n.513+2T>G)
c.693+2T>G (n.693+2T>G)
c.369+2T>G (n.369+2T>G)
1g.231265423A>TCA2650998785GNPATc.696+3A>T (n.696+3A>T)
c.*382+3A>T (n.*382+3A>T)
c.666+3A>T (n.666+3A>T)
c.513+3A>T (n.513+3A>T)
c.693+3A>T (n.693+3A>T)
c.369+3A>T (n.369+3A>T)
 gnomAD v4
1g.231265425A=CA1226898747GNPATc.696+5A= (n.696+5A=)
c.*382+5A= (n.*382+5A=)
c.666+5A= (n.666+5A=)
c.513+5A= (n.513+5A=)
c.693+5A= (n.693+5A=)
c.369+5A= (n.369+5A=)
1g.231265425A>TCA732706638GNPATc.696+5A>T (n.696+5A>T)
c.*382+5A>T (n.*382+5A>T)
c.666+5A>T (n.666+5A>T)
c.513+5A>T (n.513+5A>T)
c.693+5A>T (n.693+5A>T)
c.369+5A>T (n.369+5A>T)
 dbSNP
1g.231265426T>CCA732706652GNPATc.696+6T>C (n.696+6T>C)
c.*382+6T>C (n.*382+6T>C)
c.666+6T>C (n.666+6T>C)
c.513+6T>C (n.513+6T>C)
c.693+6T>C (n.693+6T>C)
c.369+6T>C (n.369+6T>C)
 dbSNP
1g.231265426T>GCA2650998786GNPATc.696+6T>G (n.696+6T>G)
c.*382+6T>G (n.*382+6T>G)
c.666+6T>G (n.666+6T>G)
c.513+6T>G (n.513+6T>G)
c.693+6T>G (n.693+6T>G)
c.369+6T>G (n.369+6T>G)
 gnomAD v4
1g.231265426T=CA1226898748GNPATc.696+6T= (n.696+6T=)
c.*382+6T= (n.*382+6T=)
c.666+6T= (n.666+6T=)
c.513+6T= (n.513+6T=)
c.693+6T= (n.693+6T=)
c.369+6T= (n.369+6T=)
1g.231265427G>ACA2650998787GNPATc.696+7G>A (n.696+7G>A)
c.*382+7G>A (n.*382+7G>A)
c.666+7G>A (n.666+7G>A)
c.513+7G>A (n.513+7G>A)
c.693+7G>A (n.693+7G>A)
c.369+7G>A (n.369+7G>A)
 gnomAD v4
1g.231265428C>ACA2650998788GNPATc.696+8C>A (n.696+8C>A)
c.*382+8C>A (n.*382+8C>A)
c.666+8C>A (n.666+8C>A)
c.513+8C>A (n.513+8C>A)
c.693+8C>A (n.693+8C>A)
c.369+8C>A (n.369+8C>A)
 gnomAD v4
1g.231265431delCA2574154357GNPATc.696+11del (n.696+11del)
c.*382+11del (n.*382+11del)
c.666+11del (n.666+11del)
c.513+11del (n.513+11del)
c.693+11del (n.693+11del)
c.369+11del (n.369+11del)
1g.231265432T>ACA1451851GNPATc.696+12T>A (n.696+12T>A)
c.*382+12T>A (n.*382+12T>A)
c.666+12T>A (n.666+12T>A)
c.513+12T>A (n.513+12T>A)
c.693+12T>A (n.693+12T>A)
c.369+12T>A (n.369+12T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.231265432T=CA1143774650GNPATc.696+12T= (n.696+12T=)
c.*382+12T= (n.*382+12T=)
c.666+12T= (n.666+12T=)
c.513+12T= (n.513+12T=)
c.693+12T= (n.693+12T=)
c.369+12T= (n.369+12T=)
1g.231265434A>CCA2650998789GNPATc.696+14A>C (n.696+14A>C)
c.*382+14A>C (n.*382+14A>C)
c.666+14A>C (n.666+14A>C)
c.513+14A>C (n.513+14A>C)
c.693+14A>C (n.693+14A>C)
c.369+14A>C (n.369+14A>C)
 gnomAD v4
1g.231265434A>GCA2650998790GNPATc.696+14A>G (n.696+14A>G)
c.*382+14A>G (n.*382+14A>G)
c.666+14A>G (n.666+14A>G)
c.513+14A>G (n.513+14A>G)
c.693+14A>G (n.693+14A>G)
c.369+14A>G (n.369+14A>G)
 gnomAD v4
1g.231265435T>CCA2650998791GNPATc.696+15T>C (n.696+15T>C)
c.*382+15T>C (n.*382+15T>C)
c.666+15T>C (n.666+15T>C)
c.513+15T>C (n.513+15T>C)
c.693+15T>C (n.693+15T>C)
c.369+15T>C (n.369+15T>C)
 gnomAD v4
1g.231265436T>CCA2650998792GNPATc.696+16T>C (n.696+16T>C)
c.*382+16T>C (n.*382+16T>C)
c.666+16T>C (n.666+16T>C)
c.513+16T>C (n.513+16T>C)
c.693+16T>C (n.693+16T>C)
c.369+16T>C (n.369+16T>C)
 gnomAD v4
1g.231265437C>ACA2650998793GNPATc.696+17C>A (n.696+17C>A)
c.*382+17C>A (n.*382+17C>A)
c.666+17C>A (n.666+17C>A)
c.513+17C>A (n.513+17C>A)
c.693+17C>A (n.693+17C>A)
c.369+17C>A (n.369+17C>A)
 gnomAD v4
1g.231265437C>TCA2650998794GNPATc.696+17C>T (n.696+17C>T)
c.*382+17C>T (n.*382+17C>T)
c.666+17C>T (n.666+17C>T)
c.513+17C>T (n.513+17C>T)
c.693+17C>T (n.693+17C>T)
c.369+17C>T (n.369+17C>T)
 gnomAD v4
1g.231265438C>ACA2650998795GNPATc.696+18C>A (n.696+18C>A)
c.*382+18C>A (n.*382+18C>A)
c.666+18C>A (n.666+18C>A)
c.513+18C>A (n.513+18C>A)
c.693+18C>A (n.693+18C>A)
c.369+18C>A (n.369+18C>A)
 gnomAD v4
1g.231265439C>ACA2650998796GNPATc.696+19C>A (n.696+19C>A)
c.*382+19C>A (n.*382+19C>A)
c.666+19C>A (n.666+19C>A)
c.513+19C>A (n.513+19C>A)
c.693+19C>A (n.693+19C>A)
c.369+19C>A (n.369+19C>A)
 gnomAD v4
1g.231265440A=CA1226898749GNPATc.696+20A= (n.696+20A=)
c.*382+20A= (n.*382+20A=)
c.666+20A= (n.666+20A=)
c.513+20A= (n.513+20A=)
c.693+20A= (n.693+20A=)
c.369+20A= (n.369+20A=)
1g.231265440A>GCA2650998797GNPATc.696+20A>G (n.696+20A>G)
c.*382+20A>G (n.*382+20A>G)
c.666+20A>G (n.666+20A>G)
c.513+20A>G (n.513+20A>G)
c.693+20A>G (n.693+20A>G)
c.369+20A>G (n.369+20A>G)
 gnomAD v4
1g.231265440_231265441insGGAAGTCTAAAAAAGAGGGGATAATATTTCA2530874244GNPATc.696+20_696+21insGGAAGTCTAAAAAAGAGGGGATAATATTT (n.696+20_696+21insGGAAGTCTAAAAAAGAGGGGATAATATTT)
c.*382+20_*382+21insGGAAGTCTAAAAAAGAGGGGATAATATTT (n.*382+20_*382+21insGGAAGTCTAAAAAAGAGGGGATAATATTT)
c.666+20_666+21insGGAAGTCTAAAAAAGAGGGGATAATATTT (n.666+20_666+21insGGAAGTCTAAAAAAGAGGGGATAATATTT)
c.513+20_513+21insGGAAGTCTAAAAAAGAGGGGATAATATTT (n.513+20_513+21insGGAAGTCTAAAAAAGAGGGGATAATATTT)
c.693+20_693+21insGGAAGTCTAAAAAAGAGGGGATAATATTT (n.693+20_693+21insGGAAGTCTAAAAAAGAGGGGATAATATTT)
c.369+20_369+21insGGAAGTCTAAAAAAGAGGGGATAATATTT (n.369+20_369+21insGGAAGTCTAAAAAAGAGGGGATAATATTT)
1g.231265441A=CA1148470932GNPATc.696+21A= (n.696+21A=)
c.*382+21A= (n.*382+21A=)
c.666+21A= (n.666+21A=)
c.513+21A= (n.513+21A=)
c.693+21A= (n.693+21A=)
c.369+21A= (n.369+21A=)
1g.231265441A>CCA1451853GNPATc.696+21A>C (n.696+21A>C)
c.*382+21A>C (n.*382+21A>C)
c.666+21A>C (n.666+21A>C)
c.513+21A>C (n.513+21A>C)
c.693+21A>C (n.693+21A>C)
c.369+21A>C (n.369+21A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.231265441A>GCA1451852GNPATc.696+21A>G (n.696+21A>G)
c.*382+21A>G (n.*382+21A>G)
c.666+21A>G (n.666+21A>G)
c.513+21A>G (n.513+21A>G)
c.693+21A>G (n.693+21A>G)
c.369+21A>G (n.369+21A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.231265444_231265446dupCA529916597GNPATc.696+24_696+26dup (n.696+24_696+26dup)
c.*382+24_*382+26dup (n.*382+24_*382+26dup)
c.666+24_666+26dup (n.666+24_666+26dup)
c.513+24_513+26dup (n.513+24_513+26dup)
c.693+24_693+26dup (n.693+24_693+26dup)
c.369+24_369+26dup (n.369+24_369+26dup)
 dbSNP gnomAD v2
1g.231265442C>ACA2574154358GNPATc.696+22C>A (n.696+22C>A)
c.*382+22C>A (n.*382+22C>A)
c.666+22C>A (n.666+22C>A)
c.513+22C>A (n.513+22C>A)
c.693+22C>A (n.693+22C>A)
c.369+22C>A (n.369+22C>A)
 gnomAD v4
1g.231265442C>TCA2504787711GNPATc.696+22C>T (n.696+22C>T)
c.*382+22C>T (n.*382+22C>T)
c.666+22C>T (n.666+22C>T)
c.513+22C>T (n.513+22C>T)
c.693+22C>T (n.693+22C>T)
c.369+22C>T (n.369+22C>T)
 gnomAD v4
1g.231265445C>ACA2650998799GNPATc.696+25C>A (n.696+25C>A)
c.*382+25C>A (n.*382+25C>A)
c.666+25C>A (n.666+25C>A)
c.513+25C>A (n.513+25C>A)
c.693+25C>A (n.693+25C>A)
c.369+25C>A (n.369+25C>A)
 gnomAD v4
1g.231265445C>GCA2650998800GNPATc.696+25C>G (n.696+25C>G)
c.*382+25C>G (n.*382+25C>G)
c.666+25C>G (n.666+25C>G)
c.513+25C>G (n.513+25C>G)
c.693+25C>G (n.693+25C>G)
c.369+25C>G (n.369+25C>G)
 gnomAD v4
1g.231265446T>CCA2650998801GNPATc.696+26T>C (n.696+26T>C)
c.*382+26T>C (n.*382+26T>C)
c.666+26T>C (n.666+26T>C)
c.513+26T>C (n.513+26T>C)
c.693+26T>C (n.693+26T>C)
c.369+26T>C (n.369+26T>C)
 gnomAD v4
1g.231265447C>ACA2650998803GNPATc.696+27C>A (n.696+27C>A)
c.*382+27C>A (n.*382+27C>A)
c.666+27C>A (n.666+27C>A)
c.513+27C>A (n.513+27C>A)
c.693+27C>A (n.693+27C>A)
c.369+27C>A (n.369+27C>A)
 gnomAD v4
1g.231265447C=CA1226898750GNPATc.696+27C= (n.696+27C=)
c.*382+27C= (n.*382+27C=)
c.666+27C= (n.666+27C=)
c.513+27C= (n.513+27C=)
c.693+27C= (n.693+27C=)
c.369+27C= (n.369+27C=)
1g.231265447C>TCA1451854GNPATc.696+27C>T (n.696+27C>T)
c.*382+27C>T (n.*382+27C>T)
c.666+27C>T (n.666+27C>T)
c.513+27C>T (n.513+27C>T)
c.693+27C>T (n.693+27C>T)
c.369+27C>T (n.369+27C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.231265449dupCA2650998804GNPATc.696+29dup (n.696+29dup)
c.*382+29dup (n.*382+29dup)
c.666+29dup (n.666+29dup)
c.513+29dup (n.513+29dup)
c.693+29dup (n.693+29dup)
c.369+29dup (n.369+29dup)
 gnomAD v4
1g.231265449T>CCA2650998805GNPATc.696+29T>C (n.696+29T>C)
c.*382+29T>C (n.*382+29T>C)
c.666+29T>C (n.666+29T>C)
c.513+29T>C (n.513+29T>C)
c.693+29T>C (n.693+29T>C)
c.369+29T>C (n.369+29T>C)
 gnomAD v4
1g.231265449T>GCA1451855GNPATc.696+29T>G (n.696+29T>G)
c.*382+29T>G (n.*382+29T>G)
c.666+29T>G (n.666+29T>G)
c.513+29T>G (n.513+29T>G)
c.693+29T>G (n.693+29T>G)
c.369+29T>G (n.369+29T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.231265449T=CA1149045466GNPATc.696+29T= (n.696+29T=)
c.*382+29T= (n.*382+29T=)
c.666+29T= (n.666+29T=)
c.513+29T= (n.513+29T=)
c.693+29T= (n.693+29T=)
c.369+29T= (n.369+29T=)
1g.231265450A>TCA2650998806GNPATc.696+30A>T (n.696+30A>T)
c.*382+30A>T (n.*382+30A>T)
c.666+30A>T (n.666+30A>T)
c.513+30A>T (n.513+30A>T)
c.693+30A>T (n.693+30A>T)
c.369+30A>T (n.369+30A>T)
 gnomAD v4
1g.231265451A=CA1143906829GNPATc.696+31A= (n.696+31A=)
c.*382+31A= (n.*382+31A=)
c.666+31A= (n.666+31A=)
c.513+31A= (n.513+31A=)
c.693+31A= (n.693+31A=)
c.369+31A= (n.369+31A=)
1g.231265451A>GCA1226898751GNPATc.696+31A>G (n.696+31A>G)
c.*382+31A>G (n.*382+31A>G)
c.666+31A>G (n.666+31A>G)
c.513+31A>G (n.513+31A>G)
c.693+31A>G (n.693+31A>G)
c.369+31A>G (n.369+31A>G)
 dbSNP gnomAD v4
1g.231265451A>TCA1451856GNPATc.696+31A>T (n.696+31A>T)
c.*382+31A>T (n.*382+31A>T)
c.666+31A>T (n.666+31A>T)
c.513+31A>T (n.513+31A>T)
c.693+31A>T (n.693+31A>T)
c.369+31A>T (n.369+31A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.231265452G>ACA2650998810GNPATc.696+32G>A (n.696+32G>A)
c.*382+32G>A (n.*382+32G>A)
c.666+32G>A (n.666+32G>A)
c.513+32G>A (n.513+32G>A)
c.693+32G>A (n.693+32G>A)
c.369+32G>A (n.369+32G>A)
 gnomAD v4
1g.231265453C>ACA38977655GNPATc.696+33C>A (n.696+33C>A)
c.*382+33C>A (n.*382+33C>A)
c.666+33C>A (n.666+33C>A)
c.513+33C>A (n.513+33C>A)
c.693+33C>A (n.693+33C>A)
c.369+33C>A (n.369+33C>A)
 dbSNP gnomAD v4
1g.231265453C=CA1226898752GNPATc.696+33C= (n.696+33C=)
c.*382+33C= (n.*382+33C=)
c.666+33C= (n.666+33C=)
c.513+33C= (n.513+33C=)
c.693+33C= (n.693+33C=)
c.369+33C= (n.369+33C=)
1g.231265453C>TCA2650998811GNPATc.696+33C>T (n.696+33C>T)
c.*382+33C>T (n.*382+33C>T)
c.666+33C>T (n.666+33C>T)
c.513+33C>T (n.513+33C>T)
c.693+33C>T (n.693+33C>T)
c.369+33C>T (n.369+33C>T)
 gnomAD v4
1g.231265454C>ACA2650998813GNPATc.696+34C>A (n.696+34C>A)
c.*382+34C>A (n.*382+34C>A)
c.666+34C>A (n.666+34C>A)
c.513+34C>A (n.513+34C>A)
c.693+34C>A (n.693+34C>A)
c.369+34C>A (n.369+34C>A)
 gnomAD v4
1g.231265455A=CA1226898753GNPATc.696+35A= (n.696+35A=)
c.*382+35A= (n.*382+35A=)
c.666+35A= (n.666+35A=)
c.513+35A= (n.513+35A=)
c.693+35A= (n.693+35A=)
c.369+35A= (n.369+35A=)
1g.231265455A>GCA1451857GNPATc.696+35A>G (n.696+35A>G)
c.*382+35A>G (n.*382+35A>G)
c.666+35A>G (n.666+35A>G)
c.513+35A>G (n.513+35A>G)
c.693+35A>G (n.693+35A>G)
c.369+35A>G (n.369+35A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched