Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.231265255T>CCA2650998755GNPATc.569-38T>C (n.569-38T>C)
c.*255-38T>C (n.*255-38T>C)
c.539-38T>C (n.539-38T>C)
c.386-38T>C (n.386-38T>C)
c.566-38T>C (n.566-38T>C)
c.242-38T>C (n.242-38T>C)
 gnomAD v4
1g.231265256C>ACA2650998756GNPATc.569-37C>A (n.569-37C>A)
c.*255-37C>A (n.*255-37C>A)
c.539-37C>A (n.539-37C>A)
c.386-37C>A (n.386-37C>A)
c.566-37C>A (n.566-37C>A)
c.242-37C>A (n.242-37C>A)
 gnomAD v4
1g.231265256C>TCA2574154328GNPATc.569-37C>T (n.569-37C>T)
c.*255-37C>T (n.*255-37C>T)
c.539-37C>T (n.539-37C>T)
c.386-37C>T (n.386-37C>T)
c.566-37C>T (n.566-37C>T)
c.242-37C>T (n.242-37C>T)
 gnomAD v4
1g.231265257A=CA1226898691GNPATc.569-36A= (n.569-36A=)
c.*255-36A= (n.*255-36A=)
c.539-36A= (n.539-36A=)
c.386-36A= (n.386-36A=)
c.566-36A= (n.566-36A=)
c.242-36A= (n.242-36A=)
1g.231265257A>GCA529717815GNPATc.569-36A>G (n.569-36A>G)
c.*255-36A>G (n.*255-36A>G)
c.539-36A>G (n.539-36A>G)
c.386-36A>G (n.386-36A>G)
c.566-36A>G (n.566-36A>G)
c.242-36A>G (n.242-36A>G)
 dbSNP gnomAD v2 gnomAD v4
1g.231265258A>GCA2650998757GNPATc.569-35A>G (n.569-35A>G)
c.*255-35A>G (n.*255-35A>G)
c.539-35A>G (n.539-35A>G)
c.386-35A>G (n.386-35A>G)
c.566-35A>G (n.566-35A>G)
c.242-35A>G (n.242-35A>G)
 gnomAD v4
1g.231265258A>TCA2650998758GNPATc.569-35A>T (n.569-35A>T)
c.*255-35A>T (n.*255-35A>T)
c.539-35A>T (n.539-35A>T)
c.386-35A>T (n.386-35A>T)
c.566-35A>T (n.566-35A>T)
c.242-35A>T (n.242-35A>T)
 gnomAD v4
1g.231265260A>TCA2748115256GNPATc.569-33A>T (n.569-33A>T)
c.*255-33A>T (n.*255-33A>T)
c.539-33A>T (n.539-33A>T)
c.386-33A>T (n.386-33A>T)
c.566-33A>T (n.566-33A>T)
c.242-33A>T (n.242-33A>T)
1g.231265261T>CCA2650998759GNPATc.569-32T>C (n.569-32T>C)
c.*255-32T>C (n.*255-32T>C)
c.539-32T>C (n.539-32T>C)
c.386-32T>C (n.386-32T>C)
c.566-32T>C (n.566-32T>C)
c.242-32T>C (n.242-32T>C)
 gnomAD v4
1g.231265262C>ACA2650998760GNPATc.569-31C>A (n.569-31C>A)
c.*255-31C>A (n.*255-31C>A)
c.539-31C>A (n.539-31C>A)
c.386-31C>A (n.386-31C>A)
c.566-31C>A (n.566-31C>A)
c.242-31C>A (n.242-31C>A)
 gnomAD v4
1g.231265262C=CA1226898693GNPATc.569-31C= (n.569-31C=)
c.*255-31C= (n.*255-31C=)
c.539-31C= (n.539-31C=)
c.386-31C= (n.386-31C=)
c.566-31C= (n.566-31C=)
c.242-31C= (n.242-31C=)
1g.231265262C>GCA2574154329GNPATc.569-31C>G (n.569-31C>G)
c.*255-31C>G (n.*255-31C>G)
c.539-31C>G (n.539-31C>G)
c.386-31C>G (n.386-31C>G)
c.566-31C>G (n.566-31C>G)
c.242-31C>G (n.242-31C>G)
1g.231265262C>TCA1226898692GNPATc.569-31C>T (n.569-31C>T)
c.*255-31C>T (n.*255-31C>T)
c.539-31C>T (n.539-31C>T)
c.386-31C>T (n.386-31C>T)
c.566-31C>T (n.566-31C>T)
c.242-31C>T (n.242-31C>T)
 dbSNP gnomAD v4
1g.231265263T>CCA2650998761GNPATc.569-30T>C (n.569-30T>C)
c.*255-30T>C (n.*255-30T>C)
c.539-30T>C (n.539-30T>C)
c.386-30T>C (n.386-30T>C)
c.566-30T>C (n.566-30T>C)
c.242-30T>C (n.242-30T>C)
 gnomAD v4
1g.231265264G>ACA2650998762GNPATc.569-29G>A (n.569-29G>A)
c.*255-29G>A (n.*255-29G>A)
c.539-29G>A (n.539-29G>A)
c.386-29G>A (n.386-29G>A)
c.566-29G>A (n.566-29G>A)
c.242-29G>A (n.242-29G>A)
 gnomAD v4
1g.231265264G=CA1226898694GNPATc.569-29G= (n.569-29G=)
c.*255-29G= (n.*255-29G=)
c.539-29G= (n.539-29G=)
c.386-29G= (n.386-29G=)
c.566-29G= (n.566-29G=)
c.242-29G= (n.242-29G=)
1g.231265264G>TCA1451824GNPATc.569-29G>T (n.569-29G>T)
c.*255-29G>T (n.*255-29G>T)
c.539-29G>T (n.539-29G>T)
c.386-29G>T (n.386-29G>T)
c.566-29G>T (n.566-29G>T)
c.242-29G>T (n.242-29G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.231265265C>ACA2650998763GNPATc.569-28C>A (n.569-28C>A)
c.*255-28C>A (n.*255-28C>A)
c.539-28C>A (n.539-28C>A)
c.386-28C>A (n.386-28C>A)
c.566-28C>A (n.566-28C>A)
c.242-28C>A (n.242-28C>A)
 gnomAD v4
1g.231265268dupCA2650998764GNPATc.569-25dup (n.569-25dup)
c.*255-25dup (n.*255-25dup)
c.539-25dup (n.539-25dup)
c.386-25dup (n.386-25dup)
c.566-25dup (n.566-25dup)
c.242-25dup (n.242-25dup)
 gnomAD v4
1g.231265267A>GCA2650998765GNPATc.569-26A>G (n.569-26A>G)
c.*255-26A>G (n.*255-26A>G)
c.539-26A>G (n.539-26A>G)
c.386-26A>G (n.386-26A>G)
c.566-26A>G (n.566-26A>G)
c.242-26A>G (n.242-26A>G)
 gnomAD v4
1g.231265268A>GCA2650998767GNPATc.569-25A>G (n.569-25A>G)
c.*255-25A>G (n.*255-25A>G)
c.539-25A>G (n.539-25A>G)
c.386-25A>G (n.386-25A>G)
c.566-25A>G (n.566-25A>G)
c.242-25A>G (n.242-25A>G)
 gnomAD v4
1g.231265270_231265275delCA2650998766GNPATc.569-23_569-18del (n.569-23_569-18del)
c.*255-23_*255-18del (n.*255-23_*255-18del)
c.539-23_539-18del (n.539-23_539-18del)
c.386-23_386-18del (n.386-23_386-18del)
c.566-23_566-18del (n.566-23_566-18del)
c.242-23_242-18del (n.242-23_242-18del)
 gnomAD v4
1g.231265272A=CA1144192286GNPATc.569-21A= (n.569-21A=)
c.*255-21A= (n.*255-21A=)
c.539-21A= (n.539-21A=)
c.386-21A= (n.386-21A=)
c.566-21A= (n.566-21A=)
c.242-21A= (n.242-21A=)
1g.231265272A>GCA1451825GNPATc.569-21A>G (n.569-21A>G)
c.*255-21A>G (n.*255-21A>G)
c.539-21A>G (n.539-21A>G)
c.386-21A>G (n.386-21A>G)
c.566-21A>G (n.566-21A>G)
c.242-21A>G (n.242-21A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.231265272A>TCA2650998768GNPATc.569-21A>T (n.569-21A>T)
c.*255-21A>T (n.*255-21A>T)
c.539-21A>T (n.539-21A>T)
c.386-21A>T (n.386-21A>T)
c.566-21A>T (n.566-21A>T)
c.242-21A>T (n.242-21A>T)
 gnomAD v4
1g.231265276_231265278delCA2650998769GNPATc.569-17_569-15del (n.569-17_569-15del)
c.*255-17_*255-15del (n.*255-17_*255-15del)
c.539-17_539-15del (n.539-17_539-15del)
c.386-17_386-15del (n.386-17_386-15del)
c.566-17_566-15del (n.566-17_566-15del)
c.242-17_242-15del (n.242-17_242-15del)
 gnomAD v4
1g.231265275T>ACA2650998771GNPATc.569-18T>A (n.569-18T>A)
c.*255-18T>A (n.*255-18T>A)
c.539-18T>A (n.539-18T>A)
c.386-18T>A (n.386-18T>A)
c.566-18T>A (n.566-18T>A)
c.242-18T>A (n.242-18T>A)
 gnomAD v4
1g.231265275T>CCA2574154330GNPATc.569-18T>C (n.569-18T>C)
c.*255-18T>C (n.*255-18T>C)
c.539-18T>C (n.539-18T>C)
c.386-18T>C (n.386-18T>C)
c.566-18T>C (n.566-18T>C)
c.242-18T>C (n.242-18T>C)
 gnomAD v4
1g.231265275T>GCA1451826GNPATc.569-18T>G (n.569-18T>G)
c.*255-18T>G (n.*255-18T>G)
c.539-18T>G (n.539-18T>G)
c.386-18T>G (n.386-18T>G)
c.566-18T>G (n.566-18T>G)
c.242-18T>G (n.242-18T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.231265275T=CA1226898695GNPATc.569-18T= (n.569-18T=)
c.*255-18T= (n.*255-18T=)
c.539-18T= (n.539-18T=)
c.386-18T= (n.386-18T=)
c.566-18T= (n.566-18T=)
c.242-18T= (n.242-18T=)
1g.231265276delCA2650998770GNPATc.569-17del (n.569-17del)
c.*255-17del (n.*255-17del)
c.539-17del (n.539-17del)
c.386-17del (n.386-17del)
c.566-17del (n.566-17del)
c.242-17del (n.242-17del)
 gnomAD v4
1g.231265276T>CCA1013269583GNPATc.569-17T>C (n.569-17T>C)
c.*255-17T>C (n.*255-17T>C)
c.539-17T>C (n.539-17T>C)
c.386-17T>C (n.386-17T>C)
c.566-17T>C (n.566-17T>C)
c.242-17T>C (n.242-17T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.231265276T=CA1226898696GNPATc.569-17T= (n.569-17T=)
c.*255-17T= (n.*255-17T=)
c.539-17T= (n.539-17T=)
c.386-17T= (n.386-17T=)
c.566-17T= (n.566-17T=)
c.242-17T= (n.242-17T=)
1g.231265277A=CA1226898698GNPATc.569-16A= (n.569-16A=)
c.*255-16A= (n.*255-16A=)
c.539-16A= (n.539-16A=)
c.386-16A= (n.386-16A=)
c.566-16A= (n.566-16A=)
c.242-16A= (n.242-16A=)
1g.231265277A>GCA1226898697GNPATc.569-16A>G (n.569-16A>G)
c.*255-16A>G (n.*255-16A>G)
c.539-16A>G (n.539-16A>G)
c.386-16A>G (n.386-16A>G)
c.566-16A>G (n.566-16A>G)
c.242-16A>G (n.242-16A>G)
 ClinVar dbSNP gnomAD v4
1g.231265277A>TCA2650998772GNPATc.569-16A>T (n.569-16A>T)
c.*255-16A>T (n.*255-16A>T)
c.539-16A>T (n.539-16A>T)
c.386-16A>T (n.386-16A>T)
c.566-16A>T (n.566-16A>T)
c.242-16A>T (n.242-16A>T)
 gnomAD v4
1g.231265278T>ACA529717816GNPATc.569-15T>A (n.569-15T>A)
c.*255-15T>A (n.*255-15T>A)
c.539-15T>A (n.539-15T>A)
c.386-15T>A (n.386-15T>A)
c.566-15T>A (n.566-15T>A)
c.242-15T>A (n.242-15T>A)
 dbSNP gnomAD v2 gnomAD v4
1g.231265278T=CA1226898700GNPATc.569-15T= (n.569-15T=)
c.*255-15T= (n.*255-15T=)
c.539-15T= (n.539-15T=)
c.386-15T= (n.386-15T=)
c.566-15T= (n.566-15T=)
c.242-15T= (n.242-15T=)
1g.231265278_231265279delinsTCCA1226898699GNPATc.569-15_569-14delinsTC (n.569-15_569-14delinsTC)
c.*255-15_*255-14delinsTC (n.*255-15_*255-14delinsTC)
c.539-15_539-14delinsTC (n.539-15_539-14delinsTC)
c.386-15_386-14delinsTC (n.386-15_386-14delinsTC)
c.566-15_566-14delinsTC (n.566-15_566-14delinsTC)
c.242-15_242-14delinsTC (n.242-15_242-14delinsTC)
1g.231265279C>ACA2574154332GNPATc.569-14C>A (n.569-14C>A)
c.*255-14C>A (n.*255-14C>A)
c.539-14C>A (n.539-14C>A)
c.386-14C>A (n.386-14C>A)
c.566-14C>A (n.566-14C>A)
c.242-14C>A (n.242-14C>A)
 gnomAD v4
1g.231265279C>TCA2650998773GNPATc.569-14C>T (n.569-14C>T)
c.*255-14C>T (n.*255-14C>T)
c.539-14C>T (n.539-14C>T)
c.386-14C>T (n.386-14C>T)
c.566-14C>T (n.566-14C>T)
c.242-14C>T (n.242-14C>T)
 gnomAD v4
1g.231265279_231265282delinsCCCCCA1143382391GNPATc.569-14_569-11delinsCCCC (n.569-14_569-11delinsCCCC)
c.*255-14_*255-11delinsCCCC (n.*255-14_*255-11delinsCCCC)
c.539-14_539-11delinsCCCC (n.539-14_539-11delinsCCCC)
c.386-14_386-11delinsCCCC (n.386-14_386-11delinsCCCC)
c.566-14_566-11delinsCCCC (n.566-14_566-11delinsCCCC)
c.242-14_242-11delinsCCCC (n.242-14_242-11delinsCCCC)
1g.231265282delCA206474GNPATc.569-11del (n.569-11del)
c.*255-11del (n.*255-11del)
c.539-11del (n.539-11del)
c.386-11del (n.386-11del)
c.566-11del (n.566-11del)
c.242-11del (n.242-11del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.231265280C>ACA2650998774GNPATc.569-13C>A (n.569-13C>A)
c.*255-13C>A (n.*255-13C>A)
c.539-13C>A (n.539-13C>A)
c.386-13C>A (n.386-13C>A)
c.566-13C>A (n.566-13C>A)
c.242-13C>A (n.242-13C>A)
 gnomAD v4
1g.231265281C>TCA2574154334GNPATc.569-12C>T (n.569-12C>T)
c.*255-12C>T (n.*255-12C>T)
c.539-12C>T (n.539-12C>T)
c.386-12C>T (n.386-12C>T)
c.566-12C>T (n.566-12C>T)
c.242-12C>T (n.242-12C>T)
 gnomAD v4
1g.231265282C>GCA2843133945GNPATc.569-11C>G (n.569-11C>G)
c.*255-11C>G (n.*255-11C>G)
c.539-11C>G (n.539-11C>G)
c.386-11C>G (n.386-11C>G)
c.566-11C>G (n.566-11C>G)
c.242-11C>G (n.242-11C>G)
1g.231265284_231265285delCA2650998775GNPATc.569-9_569-8del (n.569-9_569-8del)
c.*255-9_*255-8del (n.*255-9_*255-8del)
c.539-9_539-8del (n.539-9_539-8del)
c.386-9_386-8del (n.386-9_386-8del)
c.566-9_566-8del (n.566-9_566-8del)
c.242-9_242-8del (n.242-9_242-8del)
 gnomAD v4
1g.231265283T>CCA1451827GNPATc.569-10T>C (n.569-10T>C)
c.*255-10T>C (n.*255-10T>C)
c.539-10T>C (n.539-10T>C)
c.386-10T>C (n.386-10T>C)
c.566-10T>C (n.566-10T>C)
c.242-10T>C (n.242-10T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.231265283T=CA1226898701GNPATc.569-10T= (n.569-10T=)
c.*255-10T= (n.*255-10T=)
c.539-10T= (n.539-10T=)
c.386-10T= (n.386-10T=)
c.566-10T= (n.566-10T=)
c.242-10T= (n.242-10T=)
1g.231265284C>ACA38977414GNPATc.569-9C>A (n.569-9C>A)
c.*255-9C>A (n.*255-9C>A)
c.539-9C>A (n.539-9C>A)
c.386-9C>A (n.386-9C>A)
c.566-9C>A (n.566-9C>A)
c.242-9C>A (n.242-9C>A)
 dbSNP gnomAD v4
1g.231265284C=CA1226898702GNPATc.569-9C= (n.569-9C=)
c.*255-9C= (n.*255-9C=)
c.539-9C= (n.539-9C=)
c.386-9C= (n.386-9C=)
c.566-9C= (n.566-9C=)
c.242-9C= (n.242-9C=)
1g.231265284C>TCA1451828GNPATc.569-9C>T (n.569-9C>T)
c.*255-9C>T (n.*255-9C>T)
c.539-9C>T (n.539-9C>T)
c.386-9C>T (n.386-9C>T)
c.566-9C>T (n.566-9C>T)
c.242-9C>T (n.242-9C>T)
 dbSNP ExAC gnomAD v2
1g.231265285T>GCA1451829GNPATc.569-8T>G (n.569-8T>G)
c.*255-8T>G (n.*255-8T>G)
c.539-8T>G (n.539-8T>G)
c.386-8T>G (n.386-8T>G)
c.566-8T>G (n.566-8T>G)
c.242-8T>G (n.242-8T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.231265285T=CA1226898703GNPATc.569-8T= (n.569-8T=)
c.*255-8T= (n.*255-8T=)
c.539-8T= (n.539-8T=)
c.386-8T= (n.386-8T=)
c.566-8T= (n.566-8T=)
c.242-8T= (n.242-8T=)
1g.231265290dupCA2650998777GNPATc.569-3dup (n.569-3dup)
c.*255-3dup (n.*255-3dup)
c.539-3dup (n.539-3dup)
c.386-3dup (n.386-3dup)
c.566-3dup (n.566-3dup)
c.242-3dup (n.242-3dup)
 gnomAD v4
1g.231265290delCA2650998776GNPATc.569-3del (n.569-3del)
c.*255-3del (n.*255-3del)
c.539-3del (n.539-3del)
c.386-3del (n.386-3del)
c.566-3del (n.566-3del)
c.242-3del (n.242-3del)
 gnomAD v4
1g.231265286T>GCA2739273940GNPATc.569-7T>G (n.569-7T>G)
c.*255-7T>G (n.*255-7T>G)
c.539-7T>G (n.539-7T>G)
c.386-7T>G (n.386-7T>G)
c.566-7T>G (n.566-7T>G)
c.242-7T>G (n.242-7T>G)
 ClinVar
1g.231265287T>CCA2650998778GNPATc.569-6T>C (n.569-6T>C)
c.*255-6T>C (n.*255-6T>C)
c.539-6T>C (n.539-6T>C)
c.386-6T>C (n.386-6T>C)
c.566-6T>C (n.566-6T>C)
c.242-6T>C (n.242-6T>C)
 gnomAD v4
1g.231265288T>CCA1226898705GNPATc.569-5T>C (n.569-5T>C)
c.*255-5T>C (n.*255-5T>C)
c.539-5T>C (n.539-5T>C)
c.386-5T>C (n.386-5T>C)
c.566-5T>C (n.566-5T>C)
c.242-5T>C (n.242-5T>C)
 dbSNP
1g.231265288T=CA1226898704GNPATc.569-5T= (n.569-5T=)
c.*255-5T= (n.*255-5T=)
c.539-5T= (n.539-5T=)
c.386-5T= (n.386-5T=)
c.566-5T= (n.566-5T=)
c.242-5T= (n.242-5T=)
1g.231265290T>ACA2650998779GNPATc.569-3T>A (n.569-3T>A)
c.*255-3T>A (n.*255-3T>A)
c.539-3T>A (n.539-3T>A)
c.386-3T>A (n.386-3T>A)
c.566-3T>A (n.566-3T>A)
c.242-3T>A (n.242-3T>A)
 gnomAD v4
1g.231265290T>CCA1451830GNPATc.569-3T>C (n.569-3T>C)
c.*255-3T>C (n.*255-3T>C)
c.539-3T>C (n.539-3T>C)
c.386-3T>C (n.386-3T>C)
c.566-3T>C (n.566-3T>C)
c.242-3T>C (n.242-3T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.231265290T>GCA2573051514GNPATc.569-3T>G (n.569-3T>G)
c.*255-3T>G (n.*255-3T>G)
c.539-3T>G (n.539-3T>G)
c.386-3T>G (n.386-3T>G)
c.566-3T>G (n.566-3T>G)
c.242-3T>G (n.242-3T>G)
 ClinVar dbSNP gnomAD v4
1g.231265290T=CA1148268610GNPATc.569-3T= (n.569-3T=)
c.*255-3T= (n.*255-3T=)
c.539-3T= (n.539-3T=)
c.386-3T= (n.386-3T=)
c.566-3T= (n.566-3T=)
c.242-3T= (n.242-3T=)
1g.231265291A>CCA345232967GNPATc.569-2A>C (n.569-2A>C)
c.*255-2A>C (n.*255-2A>C)
c.539-2A>C (n.539-2A>C)
c.386-2A>C (n.386-2A>C)
c.566-2A>C (n.566-2A>C)
c.242-2A>C (n.242-2A>C)
1g.231265291A>GCA345232968GNPATc.569-2A>G (n.569-2A>G)
c.*255-2A>G (n.*255-2A>G)
c.539-2A>G (n.539-2A>G)
c.386-2A>G (n.386-2A>G)
c.566-2A>G (n.566-2A>G)
c.242-2A>G (n.242-2A>G)
1g.231265291A>TCA345232969GNPATc.569-2A>T (n.569-2A>T)
c.*255-2A>T (n.*255-2A>T)
c.539-2A>T (n.539-2A>T)
c.386-2A>T (n.386-2A>T)
c.566-2A>T (n.566-2A>T)
c.242-2A>T (n.242-2A>T)
1g.231265292G>ACA345232974GNPATc.569-1G>A (n.569-1G>A)
c.*255-1G>A (n.*255-1G>A)
c.539-1G>A (n.539-1G>A)
c.386-1G>A (n.386-1G>A)
c.566-1G>A (n.566-1G>A)
c.242-1G>A (n.242-1G>A)
1g.231265292G>CCA345232973GNPATc.569-1G>C (n.569-1G>C)
c.*255-1G>C (n.*255-1G>C)
c.539-1G>C (n.539-1G>C)
c.386-1G>C (n.386-1G>C)
c.566-1G>C (n.566-1G>C)
c.242-1G>C (n.242-1G>C)
1g.231265292G>TCA345232972GNPATc.569-1G>T (n.569-1G>T)
c.*255-1G>T (n.*255-1G>T)
c.539-1G>T (n.539-1G>T)
c.386-1G>T (n.386-1G>T)
c.566-1G>T (n.566-1G>T)
c.242-1G>T (n.242-1G>T)
 gnomAD v4
1g.231265293A>CCA345232976GNPATc.569A>C (p.Asp190Ala)
c.*255A>C (n.*255A>C)
c.539A>C (p.Asp180Ala)
c.386A>C (p.Asp129Ala)
c.566A>C (p.Asp189Ala)
c.242A>C (p.Asp81Ala)
1g.231265293A>GCA345232978GNPATc.569A>G (p.Asp190Gly)
c.*255A>G (n.*255A>G)
c.539A>G (p.Asp180Gly)
c.386A>G (p.Asp129Gly)
c.566A>G (p.Asp189Gly)
c.242A>G (p.Asp81Gly)
1g.231265293A>TCA345232980GNPATc.569A>T (p.Asp190Val)
c.*255A>T (n.*255A>T)
c.539A>T (p.Asp180Val)
c.386A>T (p.Asp129Val)
c.566A>T (p.Asp189Val)
c.242A>T (p.Asp81Val)
1g.231265294C>ACA345232982GNPATc.570C>A (p.Asp190Glu)
c.*256C>A (n.*256C>A)
c.540C>A (p.Asp180Glu)
c.387C>A (p.Asp129Glu)
c.567C>A (p.Asp189Glu)
c.243C>A (p.Asp81Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.231265294C=CA1226898706GNPATc.570C= (p.Asp190=)
c.*256C= (n.*256C=)
c.540C= (p.Asp180=)
c.387C= (p.Asp129=)
c.567C= (p.Asp189=)
c.243C= (p.Asp81=)
1g.231265294C>GCA345232983GNPATc.570C>G (p.Asp190Glu)
c.*256C>G (n.*256C>G)
c.540C>G (p.Asp180Glu)
c.387C>G (p.Asp129Glu)
c.567C>G (p.Asp189Glu)
c.243C>G (p.Asp81Glu)
1g.231265294C>TCA423902096GNPATc.570C>T (p.Asp190=)
c.*256C>T (n.*256C>T)
c.540C>T (p.Asp180=)
c.387C>T (p.Asp129=)
c.567C>T (p.Asp189=)
c.243C>T (p.Asp81=)
 gnomAD v4
1g.231265295T>ACA345232985GNPATc.571T>A (p.Phe191Ile)
c.*257T>A (n.*257T>A)
c.541T>A (p.Phe181Ile)
c.388T>A (p.Phe130Ile)
c.568T>A (p.Phe190Ile)
c.244T>A (p.Phe82Ile)
1g.231265295T>CCA345232987GNPATc.571T>C (p.Phe191Leu)
c.*257T>C (n.*257T>C)
c.541T>C (p.Phe181Leu)
c.388T>C (p.Phe130Leu)
c.568T>C (p.Phe190Leu)
c.244T>C (p.Phe82Leu)
1g.231265295T>GCA345232988GNPATc.571T>G (p.Phe191Val)
c.*257T>G (n.*257T>G)
c.541T>G (p.Phe181Val)
c.388T>G (p.Phe130Val)
c.568T>G (p.Phe190Val)
c.244T>G (p.Phe82Val)
1g.231265296T>ACA345232990GNPATc.572T>A (p.Phe191Tyr)
c.*258T>A (n.*258T>A)
c.542T>A (p.Phe181Tyr)
c.389T>A (p.Phe130Tyr)
c.569T>A (p.Phe190Tyr)
c.245T>A (p.Phe82Tyr)
 gnomAD v4
1g.231265296T>CCA345232992GNPATc.572T>C (p.Phe191Ser)
c.*258T>C (n.*258T>C)
c.542T>C (p.Phe181Ser)
c.389T>C (p.Phe130Ser)
c.569T>C (p.Phe190Ser)
c.245T>C (p.Phe82Ser)
 gnomAD v4
1g.231265296T>GCA345232994GNPATc.572T>G (p.Phe191Cys)
c.*258T>G (n.*258T>G)
c.542T>G (p.Phe181Cys)
c.389T>G (p.Phe130Cys)
c.569T>G (p.Phe190Cys)
c.245T>G (p.Phe82Cys)
1g.231265297C>ACA345232996GNPATc.573C>A (p.Phe191Leu)
c.*259C>A (n.*259C>A)
c.543C>A (p.Phe181Leu)
c.390C>A (p.Phe130Leu)
c.570C>A (p.Phe190Leu)
c.246C>A (p.Phe82Leu)
1g.231265297C>GCA345232997GNPATc.573C>G (p.Phe191Leu)
c.*259C>G (n.*259C>G)
c.543C>G (p.Phe181Leu)
c.390C>G (p.Phe130Leu)
c.570C>G (p.Phe190Leu)
c.246C>G (p.Phe82Leu)
1g.231265297C>TCA423902107GNPATc.573C>T (p.Phe191=)
c.*259C>T (n.*259C>T)
c.543C>T (p.Phe181=)
c.390C>T (p.Phe130=)
c.570C>T (p.Phe190=)
c.246C>T (p.Phe82=)
1g.231265298delCA2695200031GNPATc.574del (p.Leu192TrpfsTer3)
c.*260del (n.*260del)
c.544del (p.Leu182TrpfsTer3)
c.391del (p.Leu131TrpfsTer3)
c.571del (p.Leu191TrpfsTer3)
c.247del (p.Leu83TrpfsTer3)
 ClinVar
1g.231265298C>ACA345233000GNPATc.574C>A (p.Leu192Met)
c.*260C>A (n.*260C>A)
c.544C>A (p.Leu182Met)
c.391C>A (p.Leu131Met)
c.571C>A (p.Leu191Met)
c.247C>A (p.Leu83Met)
1g.231265298C>GCA345232999GNPATc.574C>G (p.Leu192Val)
c.*260C>G (n.*260C>G)
c.544C>G (p.Leu182Val)
c.391C>G (p.Leu131Val)
c.571C>G (p.Leu191Val)
c.247C>G (p.Leu83Val)
1g.231265298C>TCA423902111GNPATc.574C>T (p.Leu192=)
c.*260C>T (n.*260C>T)
c.544C>T (p.Leu182=)
c.391C>T (p.Leu131=)
c.571C>T (p.Leu191=)
c.247C>T (p.Leu83=)
1g.231265299T>ACA345233001GNPATc.575T>A (p.Leu192Gln)
c.*261T>A (n.*261T>A)
c.545T>A (p.Leu182Gln)
c.392T>A (p.Leu131Gln)
c.572T>A (p.Leu191Gln)
c.248T>A (p.Leu83Gln)
1g.231265299T>CCA345233003GNPATc.575T>C (p.Leu192Pro)
c.*261T>C (n.*261T>C)
c.545T>C (p.Leu182Pro)
c.392T>C (p.Leu131Pro)
c.572T>C (p.Leu191Pro)
c.248T>C (p.Leu83Pro)
1g.231265299T>GCA345233008GNPATc.575T>G (p.Leu192Arg)
c.*261T>G (n.*261T>G)
c.545T>G (p.Leu182Arg)
c.392T>G (p.Leu131Arg)
c.572T>G (p.Leu191Arg)
c.248T>G (p.Leu83Arg)
 dbSNP
1g.231265299T=CA1226898707GNPATc.575T= (p.Leu192=)
c.*261T= (n.*261T=)
c.545T= (p.Leu182=)
c.392T= (p.Leu131=)
c.572T= (p.Leu191=)
c.248T= (p.Leu83=)
1g.231265300G>ACA423902121GNPATc.576G>A (p.Leu192=)
c.*262G>A (n.*262G>A)
c.546G>A (p.Leu182=)
c.393G>A (p.Leu131=)
c.573G>A (p.Leu191=)
c.249G>A (p.Leu83=)
 dbSNP gnomAD v2 gnomAD v4
1g.231265300G>CCA423902119GNPATc.576G>C (p.Leu192=)
c.*262G>C (n.*262G>C)
c.546G>C (p.Leu182=)
c.393G>C (p.Leu131=)
c.573G>C (p.Leu191=)
c.249G>C (p.Leu83=)
1g.231265300G=CA1226898708GNPATc.576G= (p.Leu192=)
c.*262G= (n.*262G=)
c.546G= (p.Leu182=)
c.393G= (p.Leu131=)
c.573G= (p.Leu191=)
c.249G= (p.Leu83=)
1g.231265300G>TCA423902117GNPATc.576G>T (p.Leu192=)
c.*262G>T (n.*262G>T)
c.546G>T (p.Leu182=)
c.393G>T (p.Leu131=)
c.573G>T (p.Leu191=)
c.249G>T (p.Leu83=)
1g.231265301G>ACA38977444GNPATc.577G>A (p.Gly193Arg)
c.*263G>A (n.*263G>A)
c.547G>A (p.Gly183Arg)
c.394G>A (p.Gly132Arg)
c.574G>A (p.Gly192Arg)
c.250G>A (p.Gly84Arg)
 dbSNP
1g.231265301G>CCA345233011GNPATc.577G>C (p.Gly193Arg)
c.*263G>C (n.*263G>C)
c.547G>C (p.Gly183Arg)
c.394G>C (p.Gly132Arg)
c.574G>C (p.Gly192Arg)
c.250G>C (p.Gly84Arg)
1g.231265301G=CA1148712443GNPATc.577G= (p.Gly193=)
c.*263G= (n.*263G=)
c.547G= (p.Gly183=)
c.394G= (p.Gly132=)
c.574G= (p.Gly192=)
c.250G= (p.Gly84=)
1g.231265301G>TCA345233013GNPATc.577G>T (p.Gly193Ter)
c.*263G>T (n.*263G>T)
c.547G>T (p.Gly183Ter)
c.394G>T (p.Gly132Ter)
c.574G>T (p.Gly192Ter)
c.250G>T (p.Gly84Ter)
1g.231265302G>ACA345233020GNPATc.578G>A (p.Gly193Glu)
c.*264G>A (n.*264G>A)
c.548G>A (p.Gly183Glu)
c.395G>A (p.Gly132Glu)
c.575G>A (p.Gly192Glu)
c.251G>A (p.Gly84Glu)
 dbSNP gnomAD v4
1g.231265302G>CCA345233018GNPATc.578G>C (p.Gly193Ala)
c.*264G>C (n.*264G>C)
c.548G>C (p.Gly183Ala)
c.395G>C (p.Gly132Ala)
c.575G>C (p.Gly192Ala)
c.251G>C (p.Gly84Ala)
1g.231265302G=CA1226898709GNPATc.578G= (p.Gly193=)
c.*264G= (n.*264G=)
c.548G= (p.Gly183=)
c.395G= (p.Gly132=)
c.575G= (p.Gly192=)
c.251G= (p.Gly84=)
1g.231265302G>TCA345233016GNPATc.578G>T (p.Gly193Val)
c.*264G>T (n.*264G>T)
c.548G>T (p.Gly183Val)
c.395G>T (p.Gly132Val)
c.575G>T (p.Gly192Val)
c.251G>T (p.Gly84Val)
1g.231265303A>CCA423902134GNPATc.579A>C (p.Gly193=)
c.*265A>C (n.*265A>C)
c.549A>C (p.Gly183=)
c.396A>C (p.Gly132=)
c.576A>C (p.Gly192=)
c.252A>C (p.Gly84=)
1g.231265303A>GCA423902136GNPATc.579A>G (p.Gly193=)
c.*265A>G (n.*265A>G)
c.549A>G (p.Gly183=)
c.396A>G (p.Gly132=)
c.576A>G (p.Gly192=)
c.252A>G (p.Gly84=)
 COSMIC
1g.231265303A>TCA423902138GNPATc.579A>T (p.Gly193=)
c.*265A>T (n.*265A>T)
c.549A>T (p.Gly183=)
c.396A>T (p.Gly132=)
c.576A>T (p.Gly192=)
c.252A>T (p.Gly84=)
1g.231265304A=CA1226898710GNPATc.580A= (p.Met194=)
c.*266A= (n.*266A=)
c.550A= (p.Met184=)
c.397A= (p.Met133=)
c.577A= (p.Met193=)
c.253A= (p.Met85=)
1g.231265304A>CCA345233022GNPATc.580A>C (p.Met194Leu)
c.*266A>C (n.*266A>C)
c.550A>C (p.Met184Leu)
c.397A>C (p.Met133Leu)
c.577A>C (p.Met193Leu)
c.253A>C (p.Met85Leu)
1g.231265304A>GCA345233024GNPATc.580A>G (p.Met194Val)
c.*266A>G (n.*266A>G)
c.550A>G (p.Met184Val)
c.397A>G (p.Met133Val)
c.577A>G (p.Met193Val)
c.253A>G (p.Met85Val)
 dbSNP
1g.231265304A>TCA345233025GNPATc.580A>T (p.Met194Leu)
c.*266A>T (n.*266A>T)
c.550A>T (p.Met184Leu)
c.397A>T (p.Met133Leu)
c.577A>T (p.Met193Leu)
c.253A>T (p.Met85Leu)
1g.231265305T>ACA345233028GNPATc.581T>A (p.Met194Lys)
c.*267T>A (n.*267T>A)
c.551T>A (p.Met184Lys)
c.398T>A (p.Met133Lys)
c.578T>A (p.Met193Lys)
c.254T>A (p.Met85Lys)
 dbSNP
1g.231265305T>CCA345233029GNPATc.581T>C (p.Met194Thr)
c.*267T>C (n.*267T>C)
c.551T>C (p.Met184Thr)
c.398T>C (p.Met133Thr)
c.578T>C (p.Met193Thr)
c.254T>C (p.Met85Thr)
 gnomAD v4
1g.231265305T>GCA345233030GNPATc.581T>G (p.Met194Arg)
c.*267T>G (n.*267T>G)
c.551T>G (p.Met184Arg)
c.398T>G (p.Met133Arg)
c.578T>G (p.Met193Arg)
c.254T>G (p.Met85Arg)
1g.231265305T=CA1226898711GNPATc.581T= (p.Met194=)
c.*267T= (n.*267T=)
c.551T= (p.Met184=)
c.398T= (p.Met133=)
c.578T= (p.Met193=)
c.254T= (p.Met85=)
1g.231265306G>ACA345233032GNPATc.582G>A (p.Met194Ile)
c.*268G>A (n.*268G>A)
c.552G>A (p.Met184Ile)
c.399G>A (p.Met133Ile)
c.579G>A (p.Met193Ile)
c.255G>A (p.Met85Ile)
 gnomAD v4
1g.231265306G>CCA345233035GNPATc.582G>C (p.Met194Ile)
c.*268G>C (n.*268G>C)
c.552G>C (p.Met184Ile)
c.399G>C (p.Met133Ile)
c.579G>C (p.Met193Ile)
c.255G>C (p.Met85Ile)
1g.231265306G>TCA345233034GNPATc.582G>T (p.Met194Ile)
c.*268G>T (n.*268G>T)
c.552G>T (p.Met184Ile)
c.399G>T (p.Met133Ile)
c.579G>T (p.Met193Ile)
c.255G>T (p.Met85Ile)
1g.231265307A>CCA345233037GNPATc.583A>C (p.Lys195Gln)
c.*269A>C (n.*269A>C)
c.553A>C (p.Lys185Gln)
c.400A>C (p.Lys134Gln)
c.580A>C (p.Lys194Gln)
c.256A>C (p.Lys86Gln)
1g.231265307A>GCA345233039GNPATc.583A>G (p.Lys195Glu)
c.*269A>G (n.*269A>G)
c.553A>G (p.Lys185Glu)
c.400A>G (p.Lys134Glu)
c.580A>G (p.Lys194Glu)
c.256A>G (p.Lys86Glu)
1g.231265307A>TCA345233042GNPATc.583A>T (p.Lys195Ter)
c.*269A>T (n.*269A>T)
c.553A>T (p.Lys185Ter)
c.400A>T (p.Lys134Ter)
c.580A>T (p.Lys194Ter)
c.256A>T (p.Lys86Ter)
1g.231265310delCA2650998780GNPATc.586del (p.Met196TrpfsTer?)
c.*272del (n.*272del)
c.556del (p.Met186TrpfsTer?)
c.403del (p.Met135TrpfsTer?)
c.583del (p.Met195TrpfsTer?)
c.259del (p.Met87TrpfsTer?)
 gnomAD v4
1g.231265308A>CCA345233043GNPATc.584A>C (p.Lys195Thr)
c.*270A>C (n.*270A>C)
c.554A>C (p.Lys185Thr)
c.401A>C (p.Lys134Thr)
c.581A>C (p.Lys194Thr)
c.257A>C (p.Lys86Thr)
1g.231265308A>GCA345233045GNPATc.584A>G (p.Lys195Arg)
c.*270A>G (n.*270A>G)
c.554A>G (p.Lys185Arg)
c.401A>G (p.Lys134Arg)
c.581A>G (p.Lys194Arg)
c.257A>G (p.Lys86Arg)
1g.231265308A>TCA345233047GNPATc.584A>T (p.Lys195Ile)
c.*270A>T (n.*270A>T)
c.554A>T (p.Lys185Ile)
c.401A>T (p.Lys134Ile)
c.581A>T (p.Lys194Ile)
c.257A>T (p.Lys86Ile)
1g.231265309A>CCA345233049GNPATc.585A>C (p.Lys195Asn)
c.*271A>C (n.*271A>C)
c.555A>C (p.Lys185Asn)
c.402A>C (p.Lys134Asn)
c.582A>C (p.Lys194Asn)
c.258A>C (p.Lys86Asn)
 gnomAD v4
1g.231265309A>GCA423902161GNPATc.585A>G (p.Lys195=)
c.*271A>G (n.*271A>G)
c.555A>G (p.Lys185=)
c.402A>G (p.Lys134=)
c.582A>G (p.Lys194=)
c.258A>G (p.Lys86=)
1g.231265309A>TCA345233050GNPATc.585A>T (p.Lys195Asn)
c.*271A>T (n.*271A>T)
c.555A>T (p.Lys185Asn)
c.402A>T (p.Lys134Asn)
c.582A>T (p.Lys194Asn)
c.258A>T (p.Lys86Asn)
1g.231265310A=CA1226898712GNPATc.586A= (p.Met196=)
c.*272A= (n.*272A=)
c.556A= (p.Met186=)
c.403A= (p.Met135=)
c.583A= (p.Met195=)
c.259A= (p.Met87=)
1g.231265310A>CCA345233053GNPATc.586A>C (p.Met196Leu)
c.*272A>C (n.*272A>C)
c.556A>C (p.Met186Leu)
c.403A>C (p.Met135Leu)
c.583A>C (p.Met195Leu)
c.259A>C (p.Met87Leu)
1g.231265310A>GCA345233055GNPATc.586A>G (p.Met196Val)
c.*272A>G (n.*272A>G)
c.556A>G (p.Met186Val)
c.403A>G (p.Met135Val)
c.583A>G (p.Met195Val)
c.259A>G (p.Met87Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.231265310A>TCA345233062GNPATc.586A>T (p.Met196Leu)
c.*272A>T (n.*272A>T)
c.556A>T (p.Met186Leu)
c.403A>T (p.Met135Leu)
c.583A>T (p.Met195Leu)
c.259A>T (p.Met87Leu)
1g.231265311T>ACA345233066GNPATc.587T>A (p.Met196Lys)
c.*273T>A (n.*273T>A)
c.557T>A (p.Met186Lys)
c.404T>A (p.Met135Lys)
c.584T>A (p.Met195Lys)
c.260T>A (p.Met87Lys)
 gnomAD v4
1g.231265311T>CCA345233069GNPATc.587T>C (p.Met196Thr)
c.*273T>C (n.*273T>C)
c.557T>C (p.Met186Thr)
c.404T>C (p.Met135Thr)
c.584T>C (p.Met195Thr)
c.260T>C (p.Met87Thr)
1g.231265311T>GCA345233067GNPATc.587T>G (p.Met196Arg)
c.*273T>G (n.*273T>G)
c.557T>G (p.Met186Arg)
c.404T>G (p.Met135Arg)
c.584T>G (p.Met195Arg)
c.260T>G (p.Met87Arg)
1g.231265312G>ACA345233071GNPATc.588G>A (p.Met196Ile)
c.*274G>A (n.*274G>A)
c.558G>A (p.Met186Ile)
c.405G>A (p.Met135Ile)
c.585G>A (p.Met195Ile)
c.261G>A (p.Met87Ile)
1g.231265312G>CCA345233074GNPATc.588G>C (p.Met196Ile)
c.*274G>C (n.*274G>C)
c.558G>C (p.Met186Ile)
c.405G>C (p.Met135Ile)
c.585G>C (p.Met195Ile)
c.261G>C (p.Met87Ile)
1g.231265312G=CA1149122984GNPATc.588G= (p.Met196=)
c.*274G= (n.*274G=)
c.558G= (p.Met186=)
c.405G= (p.Met135=)
c.585G= (p.Met195=)
c.261G= (p.Met87=)
1g.231265312G>TCA1451831GNPATc.588G>T (p.Met196Ile)
c.*274G>T (n.*274G>T)
c.558G>T (p.Met186Ile)
c.405G>T (p.Met135Ile)
c.585G>T (p.Met195Ile)
c.261G>T (p.Met87Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.231265313delCA2541868772GNPATc.589del (p.Val197LeufsTer?)
c.*275del (n.*275del)
c.559del (p.Val187LeufsTer?)
c.406del (p.Val136LeufsTer?)
c.586del (p.Val196LeufsTer?)
c.262del (p.Val88LeufsTer?)
1g.231265313G>ACA345233076GNPATc.589G>A (p.Val197Ile)
c.*275G>A (n.*275G>A)
c.559G>A (p.Val187Ile)
c.406G>A (p.Val136Ile)
c.586G>A (p.Val196Ile)
c.262G>A (p.Val88Ile)
1g.231265313G>CCA345233079GNPATc.589G>C (p.Val197Leu)
c.*275G>C (n.*275G>C)
c.559G>C (p.Val187Leu)
c.406G>C (p.Val136Leu)
c.586G>C (p.Val196Leu)
c.262G>C (p.Val88Leu)
1g.231265313G>TCA345233077GNPATc.589G>T (p.Val197Phe)
c.*275G>T (n.*275G>T)
c.559G>T (p.Val187Phe)
c.406G>T (p.Val136Phe)
c.586G>T (p.Val196Phe)
c.262G>T (p.Val88Phe)
1g.231265314T>ACA345233081GNPATc.590T>A (p.Val197Asp)
c.*276T>A (n.*276T>A)
c.560T>A (p.Val187Asp)
c.407T>A (p.Val136Asp)
c.587T>A (p.Val196Asp)
c.263T>A (p.Val88Asp)
1g.231265314T>CCA345233083GNPATc.590T>C (p.Val197Ala)
c.*276T>C (n.*276T>C)
c.560T>C (p.Val187Ala)
c.407T>C (p.Val136Ala)
c.587T>C (p.Val196Ala)
c.263T>C (p.Val88Ala)
 dbSNP gnomAD v2 gnomAD v4
1g.231265314T>GCA345233084GNPATc.590T>G (p.Val197Gly)
c.*276T>G (n.*276T>G)
c.560T>G (p.Val187Gly)
c.407T>G (p.Val136Gly)
c.587T>G (p.Val196Gly)
c.263T>G (p.Val88Gly)
1g.231265314T=CA1226898713GNPATc.590T= (p.Val197=)
c.*276T= (n.*276T=)
c.560T= (p.Val187=)
c.407T= (p.Val136=)
c.587T= (p.Val196=)
c.263T= (p.Val88=)
1g.231265315T>ACA423902187GNPATc.591T>A (p.Val197=)
c.*277T>A (n.*277T>A)
c.561T>A (p.Val187=)
c.408T>A (p.Val136=)
c.588T>A (p.Val196=)
c.264T>A (p.Val88=)
1g.231265315T>CCA423902188GNPATc.591T>C (p.Val197=)
c.*277T>C (n.*277T>C)
c.561T>C (p.Val187=)
c.408T>C (p.Val136=)
c.588T>C (p.Val196=)
c.264T>C (p.Val88=)
1g.231265315T>GCA423902191GNPATc.591T>G (p.Val197=)
c.*277T>G (n.*277T>G)
c.561T>G (p.Val187=)
c.408T>G (p.Val136=)
c.588T>G (p.Val196=)
c.264T>G (p.Val88=)
1g.231265316G>ACA345233086GNPATc.592G>A (p.Gly198Ser)
c.*278G>A (n.*278G>A)
c.562G>A (p.Gly188Ser)
c.409G>A (p.Gly137Ser)
c.589G>A (p.Gly197Ser)
c.265G>A (p.Gly89Ser)
 gnomAD v4
1g.231265316G>CCA345233088GNPATc.592G>C (p.Gly198Arg)
c.*278G>C (n.*278G>C)
c.562G>C (p.Gly188Arg)
c.409G>C (p.Gly137Arg)
c.589G>C (p.Gly197Arg)
c.265G>C (p.Gly89Arg)
1g.231265316G>TCA345233089GNPATc.592G>T (p.Gly198Cys)
c.*278G>T (n.*278G>T)
c.562G>T (p.Gly188Cys)
c.409G>T (p.Gly137Cys)
c.589G>T (p.Gly197Cys)
c.265G>T (p.Gly89Cys)
1g.231265317delCA2650998781GNPATc.593del (p.Gly198ValfsTer30)
c.*279del (n.*279del)
c.563del (p.Gly188ValfsTer30)
c.410del (p.Gly137ValfsTer30)
c.590del (p.Gly197ValfsTer30)
c.266del (p.Gly89ValfsTer30)
 ClinVar gnomAD v4
1g.231265317G>ACA345233090GNPATc.593G>A (p.Gly198Asp)
c.*279G>A (n.*279G>A)
c.563G>A (p.Gly188Asp)
c.410G>A (p.Gly137Asp)
c.590G>A (p.Gly197Asp)
c.266G>A (p.Gly89Asp)
 dbSNP gnomAD v2 gnomAD v4
1g.231265317G>CCA345233091GNPATc.593G>C (p.Gly198Ala)
c.*279G>C (n.*279G>C)
c.563G>C (p.Gly188Ala)
c.410G>C (p.Gly137Ala)
c.590G>C (p.Gly197Ala)
c.266G>C (p.Gly89Ala)
1g.231265317G=CA1226898714GNPATc.593G= (p.Gly198=)
c.*279G= (n.*279G=)
c.563G= (p.Gly188=)
c.410G= (p.Gly137=)
c.590G= (p.Gly197=)
c.266G= (p.Gly89=)
1g.231265317G>TCA345233092GNPATc.593G>T (p.Gly198Val)
c.*279G>T (n.*279G>T)
c.563G>T (p.Gly188Val)
c.410G>T (p.Gly137Val)
c.590G>T (p.Gly197Val)
c.266G>T (p.Gly89Val)
1g.231265318T>ACA423902202GNPATc.594T>A (p.Gly198=)
c.*280T>A (n.*280T>A)
c.564T>A (p.Gly188=)
c.411T>A (p.Gly137=)
c.591T>A (p.Gly197=)
c.267T>A (p.Gly89=)
1g.231265318T>CCA423902203GNPATc.594T>C (p.Gly198=)
c.*280T>C (n.*280T>C)
c.564T>C (p.Gly188=)
c.411T>C (p.Gly137=)
c.591T>C (p.Gly197=)
c.267T>C (p.Gly89=)
1g.231265318T>GCA423902206GNPATc.594T>G (p.Gly198=)
c.*280T>G (n.*280T>G)
c.564T>G (p.Gly188=)
c.411T>G (p.Gly137=)
c.591T>G (p.Gly197=)
c.267T>G (p.Gly89=)
 gnomAD v4
1g.231265319G>ACA345233093GNPATc.595G>A (p.Glu199Lys)
c.*281G>A (n.*281G>A)
c.565G>A (p.Glu189Lys)
c.412G>A (p.Glu138Lys)
c.592G>A (p.Glu198Lys)
c.268G>A (p.Glu90Lys)
1g.231265319G>CCA345233094GNPATc.595G>C (p.Glu199Gln)
c.*281G>C (n.*281G>C)
c.565G>C (p.Glu189Gln)
c.412G>C (p.Glu138Gln)
c.592G>C (p.Glu198Gln)
c.268G>C (p.Glu90Gln)
1g.231265319G>TCA345233095GNPATc.595G>T (p.Glu199Ter)
c.*281G>T (n.*281G>T)
c.565G>T (p.Glu189Ter)
c.412G>T (p.Glu138Ter)
c.592G>T (p.Glu198Ter)
c.268G>T (p.Glu90Ter)
1g.231265320A>CCA345233096GNPATc.596A>C (p.Glu199Ala)
c.*282A>C (n.*282A>C)
c.566A>C (p.Glu189Ala)
c.413A>C (p.Glu138Ala)
c.593A>C (p.Glu198Ala)
c.269A>C (p.Glu90Ala)
1g.231265320A>GCA345233098GNPATc.596A>G (p.Glu199Gly)
c.*282A>G (n.*282A>G)
c.566A>G (p.Glu189Gly)
c.413A>G (p.Glu138Gly)
c.593A>G (p.Glu198Gly)
c.269A>G (p.Glu90Gly)
 gnomAD v4
1g.231265320A>TCA345233097GNPATc.596A>T (p.Glu199Val)
c.*282A>T (n.*282A>T)
c.566A>T (p.Glu189Val)
c.413A>T (p.Glu138Val)
c.593A>T (p.Glu198Val)
c.269A>T (p.Glu90Val)
1g.231265321G>ACA423902214GNPATc.597G>A (p.Glu199=)
c.*283G>A (n.*283G>A)
c.567G>A (p.Glu189=)
c.414G>A (p.Glu138=)
c.594G>A (p.Glu198=)
c.270G>A (p.Glu90=)
 dbSNP gnomAD v4
1g.231265321G>CCA1451832GNPATc.597G>C (p.Glu199Asp)
c.*283G>C (n.*283G>C)
c.567G>C (p.Glu189Asp)
c.414G>C (p.Glu138Asp)
c.594G>C (p.Glu198Asp)
c.270G>C (p.Glu90Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.231265321G=CA1226898715GNPATc.597G= (p.Glu199=)
c.*283G= (n.*283G=)
c.567G= (p.Glu189=)
c.414G= (p.Glu138=)
c.594G= (p.Glu198=)
c.270G= (p.Glu90=)
1g.231265321G>TCA345233101GNPATc.597G>T (p.Glu199Asp)
c.*283G>T (n.*283G>T)
c.567G>T (p.Glu189Asp)
c.414G>T (p.Glu138Asp)
c.594G>T (p.Glu198Asp)
c.270G>T (p.Glu90Asp)
1g.231265322C>ACA345233111GNPATc.598C>A (p.Leu200Met)
c.*284C>A (n.*284C>A)
c.568C>A (p.Leu190Met)
c.415C>A (p.Leu139Met)
c.595C>A (p.Leu199Met)
c.271C>A (p.Leu91Met)
1g.231265322C>GCA345233112GNPATc.598C>G (p.Leu200Val)
c.*284C>G (n.*284C>G)
c.568C>G (p.Leu190Val)
c.415C>G (p.Leu139Val)
c.595C>G (p.Leu199Val)
c.271C>G (p.Leu91Val)
 gnomAD v4
1g.231265322C>TCA423902223GNPATc.598C>T (p.Leu200=)
c.*284C>T (n.*284C>T)
c.568C>T (p.Leu190=)
c.415C>T (p.Leu139=)
c.595C>T (p.Leu199=)
c.271C>T (p.Leu91=)
1g.231265323T>ACA345233114GNPATc.599T>A (p.Leu200Gln)
c.*285T>A (n.*285T>A)
c.569T>A (p.Leu190Gln)
c.416T>A (p.Leu139Gln)
c.596T>A (p.Leu199Gln)
c.272T>A (p.Leu91Gln)
1g.231265323T>CCA345233116GNPATc.599T>C (p.Leu200Pro)
c.*285T>C (n.*285T>C)
c.569T>C (p.Leu190Pro)
c.416T>C (p.Leu139Pro)
c.596T>C (p.Leu199Pro)
c.272T>C (p.Leu91Pro)
 gnomAD v4
1g.231265323T>GCA345233118GNPATc.599T>G (p.Leu200Arg)
c.*285T>G (n.*285T>G)
c.569T>G (p.Leu190Arg)
c.416T>G (p.Leu139Arg)
c.596T>G (p.Leu199Arg)
c.272T>G (p.Leu91Arg)
1g.231265324G>ACA423902230GNPATc.600G>A (p.Leu200=)
c.*286G>A (n.*286G>A)
c.570G>A (p.Leu190=)
c.417G>A (p.Leu139=)
c.597G>A (p.Leu199=)
c.273G>A (p.Leu91=)
 dbSNP gnomAD v3 gnomAD v4
1g.231265324G>CCA423902231GNPATc.600G>C (p.Leu200=)
c.*286G>C (n.*286G>C)
c.570G>C (p.Leu190=)
c.417G>C (p.Leu139=)
c.597G>C (p.Leu199=)
c.273G>C (p.Leu91=)
1g.231265324G>TCA423902233GNPATc.600G>T (p.Leu200=)
c.*286G>T (n.*286G>T)
c.570G>T (p.Leu190=)
c.417G>T (p.Leu139=)
c.597G>T (p.Leu199=)
c.273G>T (p.Leu91=)
1g.231265325C>ACA345233120GNPATc.601C>A (p.Leu201Ile)
c.*287C>A (n.*287C>A)
c.571C>A (p.Leu191Ile)
c.418C>A (p.Leu140Ile)
c.598C>A (p.Leu200Ile)
c.274C>A (p.Leu92Ile)
1g.231265325C>GCA345233122GNPATc.601C>G (p.Leu201Val)
c.*287C>G (n.*287C>G)
c.571C>G (p.Leu191Val)
c.418C>G (p.Leu140Val)
c.598C>G (p.Leu200Val)
c.274C>G (p.Leu92Val)
1g.231265325C>TCA423902237GNPATc.601C>T (p.Leu201=)
c.*287C>T (n.*287C>T)
c.571C>T (p.Leu191=)
c.418C>T (p.Leu140=)
c.598C>T (p.Leu200=)
c.274C>T (p.Leu92=)
 gnomAD v4
1g.231265326T>ACA345233126GNPATc.602T>A (p.Leu201Gln)
c.*288T>A (n.*288T>A)
c.572T>A (p.Leu191Gln)
c.419T>A (p.Leu140Gln)
c.599T>A (p.Leu200Gln)
c.275T>A (p.Leu92Gln)
1g.231265326T>CCA345233127GNPATc.602T>C (p.Leu201Pro)
c.*288T>C (n.*288T>C)
c.572T>C (p.Leu191Pro)
c.419T>C (p.Leu140Pro)
c.599T>C (p.Leu200Pro)
c.275T>C (p.Leu92Pro)
1g.231265326T>GCA345233124GNPATc.602T>G (p.Leu201Arg)
c.*288T>G (n.*288T>G)
c.572T>G (p.Leu191Arg)
c.419T>G (p.Leu140Arg)
c.599T>G (p.Leu200Arg)
c.275T>G (p.Leu92Arg)
1g.231265327A>CCA423902244GNPATc.603A>C (p.Leu201=)
c.*289A>C (n.*289A>C)
c.573A>C (p.Leu191=)
c.420A>C (p.Leu140=)
c.600A>C (p.Leu200=)
c.276A>C (p.Leu92=)
1g.231265327A>GCA423902245GNPATc.603A>G (p.Leu201=)
c.*289A>G (n.*289A>G)
c.573A>G (p.Leu191=)
c.420A>G (p.Leu140=)
c.600A>G (p.Leu200=)
c.276A>G (p.Leu92=)
 ClinVar gnomAD v4
1g.231265327A>TCA423902247GNPATc.603A>T (p.Leu201=)
c.*289A>T (n.*289A>T)
c.573A>T (p.Leu191=)
c.420A>T (p.Leu140=)
c.600A>T (p.Leu200=)
c.276A>T (p.Leu92=)
1g.231265328C>ACA423902250GNPATc.604C>A (p.Arg202=)
c.*290C>A (n.*290C>A)
c.574C>A (p.Arg192=)
c.421C>A (p.Arg141=)
c.601C>A (p.Arg201=)
c.277C>A (p.Arg93=)
 dbSNP
1g.231265328C=CA1226898716GNPATc.604C= (p.Arg202=)
c.*290C= (n.*290C=)
c.574C= (p.Arg192=)
c.421C= (p.Arg141=)
c.601C= (p.Arg201=)
c.277C= (p.Arg93=)
1g.231265328C>GCA345233128GNPATc.604C>G (p.Arg202Gly)
c.*290C>G (n.*290C>G)
c.574C>G (p.Arg192Gly)
c.421C>G (p.Arg141Gly)
c.601C>G (p.Arg201Gly)
c.277C>G (p.Arg93Gly)
1g.231265328C>TCA345233129GNPATc.604C>T (p.Arg202Ter)
c.*290C>T (n.*290C>T)
c.574C>T (p.Arg192Ter)
c.421C>T (p.Arg141Ter)
c.601C>T (p.Arg201Ter)
c.277C>T (p.Arg93Ter)
 ClinVar gnomAD v4
1g.231265329G>ACA16603597GNPATc.605G>A (p.Arg202Gln)
c.*291G>A (n.*291G>A)
c.575G>A (p.Arg192Gln)
c.422G>A (p.Arg141Gln)
c.602G>A (p.Arg201Gln)
c.278G>A (p.Arg93Gln)
 ClinVar dbSNP gnomAD v4
1g.231265329G>CCA345233131GNPATc.605G>C (p.Arg202Pro)
c.*291G>C (n.*291G>C)
c.575G>C (p.Arg192Pro)
c.422G>C (p.Arg141Pro)
c.602G>C (p.Arg201Pro)
c.278G>C (p.Arg93Pro)
1g.231265329G=CA1226898717GNPATc.605G= (p.Arg202=)
c.*291G= (n.*291G=)
c.575G= (p.Arg192=)
c.422G= (p.Arg141=)
c.602G= (p.Arg201=)
c.278G= (p.Arg93=)
1g.231265329G>TCA345233133GNPATc.605G>T (p.Arg202Leu)
c.*291G>T (n.*291G>T)
c.575G>T (p.Arg192Leu)
c.422G>T (p.Arg141Leu)
c.602G>T (p.Arg201Leu)
c.278G>T (p.Arg93Leu)
1g.231265330A>CCA423902257GNPATc.606A>C (p.Arg202=)
c.*292A>C (n.*292A>C)
c.576A>C (p.Arg192=)
c.423A>C (p.Arg141=)
c.603A>C (p.Arg201=)
c.279A>C (p.Arg93=)
1g.231265330A>GCA423902258GNPATc.606A>G (p.Arg202=)
c.*292A>G (n.*292A>G)
c.576A>G (p.Arg192=)
c.423A>G (p.Arg141=)
c.603A>G (p.Arg201=)
c.279A>G (p.Arg93=)
1g.231265330A>TCA423902261GNPATc.606A>T (p.Arg202=)
c.*292A>T (n.*292A>T)
c.576A>T (p.Arg192=)
c.423A>T (p.Arg141=)
c.603A>T (p.Arg201=)
c.279A>T (p.Arg93=)
1g.231265331A>CCA345233137GNPATc.607A>C (p.Met203Leu)
c.*293A>C (n.*293A>C)
c.577A>C (p.Met193Leu)
c.424A>C (p.Met142Leu)
c.604A>C (p.Met202Leu)
c.280A>C (p.Met94Leu)
1g.231265331A>GCA345233139GNPATc.607A>G (p.Met203Val)
c.*293A>G (n.*293A>G)
c.577A>G (p.Met193Val)
c.424A>G (p.Met142Val)
c.604A>G (p.Met202Val)
c.280A>G (p.Met94Val)
 gnomAD v4
1g.231265331A>TCA345233141GNPATc.607A>T (p.Met203Leu)
c.*293A>T (n.*293A>T)
c.577A>T (p.Met193Leu)
c.424A>T (p.Met142Leu)
c.604A>T (p.Met202Leu)
c.280A>T (p.Met94Leu)
1g.231265332T>ACA1451833GNPATc.608T>A (p.Met203Lys)
c.*294T>A (n.*294T>A)
c.578T>A (p.Met193Lys)
c.425T>A (p.Met142Lys)
c.605T>A (p.Met202Lys)
c.281T>A (p.Met94Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.231265332T>CCA38977461GNPATc.608T>C (p.Met203Thr)
c.*294T>C (n.*294T>C)
c.578T>C (p.Met193Thr)
c.425T>C (p.Met142Thr)
c.605T>C (p.Met202Thr)
c.281T>C (p.Met94Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.231265332T>GCA345233143GNPATc.608T>G (p.Met203Arg)
c.*294T>G (n.*294T>G)
c.578T>G (p.Met193Arg)
c.425T>G (p.Met142Arg)
c.605T>G (p.Met202Arg)
c.281T>G (p.Met94Arg)
1g.231265332T=CA1226898718GNPATc.608T= (p.Met203=)
c.*294T= (n.*294T=)
c.578T= (p.Met193=)
c.425T= (p.Met142=)
c.605T= (p.Met202=)
c.281T= (p.Met94=)
1g.231265333G>ACA1451834GNPATc.609G>A (p.Met203Ile)
c.*295G>A (n.*295G>A)
c.579G>A (p.Met193Ile)
c.426G>A (p.Met142Ile)
c.606G>A (p.Met202Ile)
c.282G>A (p.Met94Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.231265333G>CCA345233148GNPATc.609G>C (p.Met203Ile)
c.*295G>C (n.*295G>C)
c.579G>C (p.Met193Ile)
c.426G>C (p.Met142Ile)
c.606G>C (p.Met202Ile)
c.282G>C (p.Met94Ile)
1g.231265333G=CA1145887901GNPATc.609G= (p.Met203=)
c.*295G= (n.*295G=)
c.579G= (p.Met193=)
c.426G= (p.Met142=)
c.606G= (p.Met202=)
c.282G= (p.Met94=)
1g.231265333G>TCA345233145GNPATc.609G>T (p.Met203Ile)
c.*295G>T (n.*295G>T)
c.579G>T (p.Met193Ile)
c.426G>T (p.Met142Ile)
c.606G>T (p.Met202Ile)
c.282G>T (p.Met94Ile)
1g.231265334T>ACA345233150GNPATc.610T>A (p.Ser204Thr)
c.*296T>A (n.*296T>A)
c.580T>A (p.Ser194Thr)
c.427T>A (p.Ser143Thr)
c.607T>A (p.Ser203Thr)
c.283T>A (p.Ser95Thr)
1g.231265334T>CCA345233151GNPATc.610T>C (p.Ser204Pro)
c.*296T>C (n.*296T>C)
c.580T>C (p.Ser194Pro)
c.427T>C (p.Ser143Pro)
c.607T>C (p.Ser203Pro)
c.283T>C (p.Ser95Pro)
1g.231265334T>GCA345233153GNPATc.610T>G (p.Ser204Ala)
c.*296T>G (n.*296T>G)
c.580T>G (p.Ser194Ala)
c.427T>G (p.Ser143Ala)
c.607T>G (p.Ser203Ala)
c.283T>G (p.Ser95Ala)
1g.231265335C>ACA345233155GNPATc.611C>A (p.Ser204Ter)
c.*297C>A (n.*297C>A)
c.581C>A (p.Ser194Ter)
c.428C>A (p.Ser143Ter)
c.608C>A (p.Ser203Ter)
c.284C>A (p.Ser95Ter)
1g.231265335C=CA1226898719GNPATc.611C= (p.Ser204=)
c.*297C= (n.*297C=)
c.581C= (p.Ser194=)
c.428C= (p.Ser143=)
c.608C= (p.Ser203=)
c.284C= (p.Ser95=)
1g.231265335C>GCA345233157GNPATc.611C>G (p.Ser204Trp)
c.*297C>G (n.*297C>G)
c.581C>G (p.Ser194Trp)
c.428C>G (p.Ser143Trp)
c.608C>G (p.Ser203Trp)
c.284C>G (p.Ser95Trp)
1g.231265335C>TCA345233159GNPATc.611C>T (p.Ser204Leu)
c.*297C>T (n.*297C>T)
c.581C>T (p.Ser194Leu)
c.428C>T (p.Ser143Leu)
c.608C>T (p.Ser203Leu)
c.284C>T (p.Ser95Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.231265336G>ACA1451835GNPATc.612G>A (p.Ser204=)
c.*298G>A (n.*298G>A)
c.582G>A (p.Ser194=)
c.429G>A (p.Ser143=)
c.609G>A (p.Ser203=)
c.285G>A (p.Ser95=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.231265336G>CCA423902281GNPATc.612G>C (p.Ser204=)
c.*298G>C (n.*298G>C)
c.582G>C (p.Ser194=)
c.429G>C (p.Ser143=)
c.609G>C (p.Ser203=)
c.285G>C (p.Ser95=)
1g.231265336G=CA1226898720GNPATc.612G= (p.Ser204=)
c.*298G= (n.*298G=)
c.582G= (p.Ser194=)
c.429G= (p.Ser143=)
c.609G= (p.Ser203=)
c.285G= (p.Ser95=)
1g.231265336G>TCA423902283GNPATc.612G>T (p.Ser204=)
c.*298G>T (n.*298G>T)
c.582G>T (p.Ser194=)
c.429G>T (p.Ser143=)
c.609G>T (p.Ser203=)
c.285G>T (p.Ser95=)
1g.231265337G>ACA345233162GNPATc.613G>A (p.Gly205Ser)
c.*299G>A (n.*299G>A)
c.583G>A (p.Gly195Ser)
c.430G>A (p.Gly144Ser)
c.610G>A (p.Gly204Ser)
c.286G>A (p.Gly96Ser)
1g.231265337G>CCA345233163GNPATc.613G>C (p.Gly205Arg)
c.*299G>C (n.*299G>C)
c.583G>C (p.Gly195Arg)
c.430G>C (p.Gly144Arg)
c.610G>C (p.Gly204Arg)
c.286G>C (p.Gly96Arg)
1g.231265337G>TCA345233165GNPATc.613G>T (p.Gly205Cys)
c.*299G>T (n.*299G>T)
c.583G>T (p.Gly195Cys)
c.430G>T (p.Gly144Cys)
c.610G>T (p.Gly204Cys)
c.286G>T (p.Gly96Cys)
1g.231265338G>ACA345233167GNPATc.614G>A (p.Gly205Asp)
c.*300G>A (n.*300G>A)
c.584G>A (p.Gly195Asp)
c.431G>A (p.Gly144Asp)
c.611G>A (p.Gly204Asp)
c.287G>A (p.Gly96Asp)
1g.231265338G>CCA345233168GNPATc.614G>C (p.Gly205Ala)
c.*300G>C (n.*300G>C)
c.584G>C (p.Gly195Ala)
c.431G>C (p.Gly144Ala)
c.611G>C (p.Gly204Ala)
c.287G>C (p.Gly96Ala)
1g.231265338G>TCA345233170GNPATc.614G>T (p.Gly205Val)
c.*300G>T (n.*300G>T)
c.584G>T (p.Gly195Val)
c.431G>T (p.Gly144Val)
c.611G>T (p.Gly204Val)
c.287G>T (p.Gly96Val)
1g.231265339T>ACA423902288GNPATc.615T>A (p.Gly205=)
c.*301T>A (n.*301T>A)
c.585T>A (p.Gly195=)
c.432T>A (p.Gly144=)
c.612T>A (p.Gly204=)
c.288T>A (p.Gly96=)
1g.231265339T>CCA423902290GNPATc.615T>C (p.Gly205=)
c.*301T>C (n.*301T>C)
c.585T>C (p.Gly195=)
c.432T>C (p.Gly144=)
c.612T>C (p.Gly204=)
c.288T>C (p.Gly96=)
1g.231265339T>GCA1451836GNPATc.615T>G (p.Gly205=)
c.*301T>G (n.*301T>G)
c.585T>G (p.Gly195=)
c.432T>G (p.Gly144=)
c.612T>G (p.Gly204=)
c.288T>G (p.Gly96=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.231265339T=CA1226898721GNPATc.615T= (p.Gly205=)
c.*301T= (n.*301T=)
c.585T= (p.Gly195=)
c.432T= (p.Gly144=)
c.612T= (p.Gly204=)
c.288T= (p.Gly96=)
1g.231265340G>ACA345233177GNPATc.616G>A (p.Ala206Thr)
c.*302G>A (n.*302G>A)
c.586G>A (p.Ala196Thr)
c.433G>A (p.Ala145Thr)
c.613G>A (p.Ala205Thr)
c.289G>A (p.Ala97Thr)
 dbSNP gnomAD v4
1g.231265340G>CCA345233175GNPATc.616G>C (p.Ala206Pro)
c.*302G>C (n.*302G>C)
c.586G>C (p.Ala196Pro)
c.433G>C (p.Ala145Pro)
c.613G>C (p.Ala205Pro)
c.289G>C (p.Ala97Pro)
1g.231265340G=CA1226898722GNPATc.616G= (p.Ala206=)
c.*302G= (n.*302G=)
c.586G= (p.Ala196=)
c.433G= (p.Ala145=)
c.613G= (p.Ala205=)
c.289G= (p.Ala97=)
1g.231265340G>TCA345233173GNPATc.616G>T (p.Ala206Ser)
c.*302G>T (n.*302G>T)
c.586G>T (p.Ala196Ser)
c.433G>T (p.Ala145Ser)
c.613G>T (p.Ala205Ser)
c.289G>T (p.Ala97Ser)
 ClinVar dbSNP
1g.231265341C>ACA345233181GNPATc.617C>A (p.Ala206Asp)
c.*303C>A (n.*303C>A)
c.587C>A (p.Ala196Asp)
c.434C>A (p.Ala145Asp)
c.614C>A (p.Ala205Asp)
c.290C>A (p.Ala97Asp)
1g.231265341C=CA1148481278GNPATc.617C= (p.Ala206=)
c.*303C= (n.*303C=)
c.587C= (p.Ala196=)
c.434C= (p.Ala145=)
c.614C= (p.Ala205=)
c.290C= (p.Ala97=)
1g.231265341C>GCA345233179GNPATc.617C>G (p.Ala206Gly)
c.*303C>G (n.*303C>G)
c.587C>G (p.Ala196Gly)
c.434C>G (p.Ala145Gly)
c.614C>G (p.Ala205Gly)
c.290C>G (p.Ala97Gly)
 dbSNP gnomAD v2
1g.231265341C>TCA1451837GNPATc.617C>T (p.Ala206Val)
c.*303C>T (n.*303C>T)
c.587C>T (p.Ala196Val)
c.434C>T (p.Ala145Val)
c.614C>T (p.Ala205Val)
c.290C>T (p.Ala97Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.231265342C>ACA423902304GNPATc.618C>A (p.Ala206=)
c.*304C>A (n.*304C>A)
c.588C>A (p.Ala196=)
c.435C>A (p.Ala145=)
c.615C>A (p.Ala205=)
c.291C>A (p.Ala97=)
1g.231265342C>GCA423902302GNPATc.618C>G (p.Ala206=)
c.*304C>G (n.*304C>G)
c.588C>G (p.Ala196=)
c.435C>G (p.Ala145=)
c.615C>G (p.Ala205=)
c.291C>G (p.Ala97=)
1g.231265342C>TCA423902300GNPATc.618C>T (p.Ala206=)
c.*304C>T (n.*304C>T)
c.588C>T (p.Ala196=)
c.435C>T (p.Ala145=)
c.615C>T (p.Ala205=)
c.291C>T (p.Ala97=)
1g.231265343T>ACA345233187GNPATc.619T>A (p.Phe207Ile)
c.*305T>A (n.*305T>A)
c.589T>A (p.Phe197Ile)
c.436T>A (p.Phe146Ile)
c.616T>A (p.Phe206Ile)
c.292T>A (p.Phe98Ile)
1g.231265343T>CCA345233188GNPATc.619T>C (p.Phe207Leu)
c.*305T>C (n.*305T>C)
c.589T>C (p.Phe197Leu)
c.436T>C (p.Phe146Leu)
c.616T>C (p.Phe206Leu)
c.292T>C (p.Phe98Leu)
 gnomAD v4
1g.231265343T>GCA345233190GNPATc.619T>G (p.Phe207Val)
c.*305T>G (n.*305T>G)
c.589T>G (p.Phe197Val)
c.436T>G (p.Phe146Val)
c.616T>G (p.Phe206Val)
c.292T>G (p.Phe98Val)
1g.231265347delCA2574154354GNPATc.623del (p.Phe208SerfsTer20)
c.*309del (n.*309del)
c.593del (p.Phe198SerfsTer20)
c.440del (p.Phe147SerfsTer20)
c.620del (p.Phe207SerfsTer20)
c.296del (p.Phe99SerfsTer20)
 gnomAD v4
1g.231265344T>ACA345233193GNPATc.620T>A (p.Phe207Tyr)
c.*306T>A (n.*306T>A)
c.590T>A (p.Phe197Tyr)
c.437T>A (p.Phe146Tyr)
c.617T>A (p.Phe206Tyr)
c.293T>A (p.Phe98Tyr)
1g.231265344T>CCA345233194GNPATc.620T>C (p.Phe207Ser)
c.*306T>C (n.*306T>C)
c.590T>C (p.Phe197Ser)
c.437T>C (p.Phe146Ser)
c.617T>C (p.Phe206Ser)
c.293T>C (p.Phe98Ser)
1g.231265344T>GCA345233196GNPATc.620T>G (p.Phe207Cys)
c.*306T>G (n.*306T>G)
c.590T>G (p.Phe197Cys)
c.437T>G (p.Phe146Cys)
c.617T>G (p.Phe206Cys)
c.293T>G (p.Phe98Cys)
1g.231265345T>ACA345233198GNPATc.621T>A (p.Phe207Leu)
c.*307T>A (n.*307T>A)
c.591T>A (p.Phe197Leu)
c.438T>A (p.Phe146Leu)
c.618T>A (p.Phe206Leu)
c.294T>A (p.Phe98Leu)
1g.231265345T>CCA423902313GNPATc.621T>C (p.Phe207=)
c.*307T>C (n.*307T>C)
c.591T>C (p.Phe197=)
c.438T>C (p.Phe146=)
c.618T>C (p.Phe206=)
c.294T>C (p.Phe98=)
1g.231265345T>GCA345233200GNPATc.621T>G (p.Phe207Leu)
c.*307T>G (n.*307T>G)
c.591T>G (p.Phe197Leu)
c.438T>G (p.Phe146Leu)
c.618T>G (p.Phe206Leu)
c.294T>G (p.Phe98Leu)
1g.231265346T>ACA345233203GNPATc.622T>A (p.Phe208Ile)
c.*308T>A (n.*308T>A)
c.592T>A (p.Phe198Ile)
c.439T>A (p.Phe147Ile)
c.619T>A (p.Phe207Ile)
c.295T>A (p.Phe99Ile)
1g.231265346T>CCA345233204GNPATc.622T>C (p.Phe208Leu)
c.*308T>C (n.*308T>C)
c.592T>C (p.Phe198Leu)
c.439T>C (p.Phe147Leu)
c.619T>C (p.Phe207Leu)
c.295T>C (p.Phe99Leu)
1g.231265346T>GCA345233206GNPATc.622T>G (p.Phe208Val)
c.*308T>G (n.*308T>G)
c.592T>G (p.Phe198Val)
c.439T>G (p.Phe147Val)
c.619T>G (p.Phe207Val)
c.295T>G (p.Phe99Val)
1g.231265347T>ACA345233212GNPATc.623T>A (p.Phe208Tyr)
c.*309T>A (n.*309T>A)
c.593T>A (p.Phe198Tyr)
c.440T>A (p.Phe147Tyr)
c.620T>A (p.Phe207Tyr)
c.296T>A (p.Phe99Tyr)
1g.231265347T>CCA345233210GNPATc.623T>C (p.Phe208Ser)
c.*309T>C (n.*309T>C)
c.593T>C (p.Phe198Ser)
c.440T>C (p.Phe147Ser)
c.620T>C (p.Phe207Ser)
c.296T>C (p.Phe99Ser)
1g.231265347T>GCA345233209GNPATc.623T>G (p.Phe208Cys)
c.*309T>G (n.*309T>G)
c.593T>G (p.Phe198Cys)
c.440T>G (p.Phe147Cys)
c.620T>G (p.Phe207Cys)
c.296T>G (p.Phe99Cys)
1g.231265348C>ACA345233213GNPATc.624C>A (p.Phe208Leu)
c.*310C>A (n.*310C>A)
c.594C>A (p.Phe198Leu)
c.441C>A (p.Phe147Leu)
c.621C>A (p.Phe207Leu)
c.297C>A (p.Phe99Leu)
1g.231265348C=CA1226898723GNPATc.624C= (p.Phe208=)
c.*310C= (n.*310C=)
c.594C= (p.Phe198=)
c.441C= (p.Phe147=)
c.621C= (p.Phe207=)
c.297C= (p.Phe99=)
1g.231265348C>GCA345233214GNPATc.624C>G (p.Phe208Leu)
c.*310C>G (n.*310C>G)
c.594C>G (p.Phe198Leu)
c.441C>G (p.Phe147Leu)
c.621C>G (p.Phe207Leu)
c.297C>G (p.Phe99Leu)
 gnomAD v4
1g.231265348C>TCA1451838GNPATc.624C>T (p.Phe208=)
c.*310C>T (n.*310C>T)
c.594C>T (p.Phe198=)
c.441C>T (p.Phe147=)
c.621C>T (p.Phe207=)
c.297C>T (p.Phe99=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.231265349A>CCA345233216GNPATc.625A>C (p.Met209Leu)
c.*311A>C (n.*311A>C)
c.595A>C (p.Met199Leu)
c.442A>C (p.Met148Leu)
c.622A>C (p.Met208Leu)
c.298A>C (p.Met100Leu)
1g.231265349A>GCA345233218GNPATc.625A>G (p.Met209Val)
c.*311A>G (n.*311A>G)
c.595A>G (p.Met199Val)
c.442A>G (p.Met148Val)
c.622A>G (p.Met208Val)
c.298A>G (p.Met100Val)
1g.231265349A>TCA345233219GNPATc.625A>T (p.Met209Leu)
c.*311A>T (n.*311A>T)
c.595A>T (p.Met199Leu)
c.442A>T (p.Met148Leu)
c.622A>T (p.Met208Leu)
c.298A>T (p.Met100Leu)
1g.231265350T>ACA345233221GNPATc.626T>A (p.Met209Lys)
c.*312T>A (n.*312T>A)
c.596T>A (p.Met199Lys)
c.443T>A (p.Met148Lys)
c.623T>A (p.Met208Lys)
c.299T>A (p.Met100Lys)
1g.231265350T>CCA345233222GNPATc.626T>C (p.Met209Thr)
c.*312T>C (n.*312T>C)
c.596T>C (p.Met199Thr)
c.443T>C (p.Met148Thr)
c.623T>C (p.Met208Thr)
c.299T>C (p.Met100Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.231265350T>GCA345233223GNPATc.626T>G (p.Met209Arg)
c.*312T>G (n.*312T>G)
c.596T>G (p.Met199Arg)
c.443T>G (p.Met148Arg)
c.623T>G (p.Met208Arg)
c.299T>G (p.Met100Arg)
1g.231265350T=CA1226898724GNPATc.626T= (p.Met209=)
c.*312T= (n.*312T=)
c.596T= (p.Met199=)
c.443T= (p.Met148=)
c.623T= (p.Met208=)
c.299T= (p.Met100=)
1g.231265350_231265351insTTATATTTTATTATTTTATTTTATGACA1226898725GNPATc.626_627insTTATATTTTATTATTTTATTTTATGA (p.Met209IlefsTer28)
c.*312_*313insTTATATTTTATTATTTTATTTTATGA (n.*312_*313insTTATATTTTATTATTTTATTTTATGA)
c.596_597insTTATATTTTATTATTTTATTTTATGA (p.Met199IlefsTer28)
c.443_444insTTATATTTTATTATTTTATTTTATGA (p.Met148IlefsTer28)
c.623_624insTTATATTTTATTATTTTATTTTATGA (p.Met208IlefsTer28)
c.299_300insTTATATTTTATTATTTTATTTTATGA (p.Met100IlefsTer28)
 dbSNP
1g.231265351G>ACA345233224GNPATc.627G>A (p.Met209Ile)
c.*313G>A (n.*313G>A)
c.597G>A (p.Met199Ile)
c.444G>A (p.Met148Ile)
c.624G>A (p.Met208Ile)
c.300G>A (p.Met100Ile)
1g.231265351G>CCA345233226GNPATc.627G>C (p.Met209Ile)
c.*313G>C (n.*313G>C)
c.597G>C (p.Met199Ile)
c.444G>C (p.Met148Ile)
c.624G>C (p.Met208Ile)
c.300G>C (p.Met100Ile)
1g.231265351G=CA1226898726GNPATc.627G= (p.Met209=)
c.*313G= (n.*313G=)
c.597G= (p.Met199=)
c.444G= (p.Met148=)
c.624G= (p.Met208=)
c.300G= (p.Met100=)
1g.231265351G>TCA345233227GNPATc.627G>T (p.Met209Ile)
c.*313G>T (n.*313G>T)
c.597G>T (p.Met199Ile)
c.444G>T (p.Met148Ile)
c.624G>T (p.Met208Ile)
c.300G>T (p.Met100Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
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.231265352C>ACA1451840GNPATc.628C>A (p.Arg210=)
c.*314C>A (n.*314C>A)
c.598C>A (p.Arg200=)
c.445C>A (p.Arg149=)
c.625C>A (p.Arg209=)
c.301C>A (p.Arg101=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.231265352C=CA1143357700GNPATc.628C= (p.Arg210=)
c.*314C= (n.*314C=)
c.598C= (p.Arg200=)
c.445C= (p.Arg149=)
c.625C= (p.Arg209=)
c.301C= (p.Arg101=)
1g.231265352C>GCA345233231GNPATc.628C>G (p.Arg210Gly)
c.*314C>G (n.*314C>G)
c.598C>G (p.Arg200Gly)
c.445C>G (p.Arg149Gly)
c.625C>G (p.Arg209Gly)
c.301C>G (p.Arg101Gly)
1g.231265352C>TCA1451839GNPATc.628C>T (p.Arg210Trp)
c.*314C>T (n.*314C>T)
c.598C>T (p.Arg200Trp)
c.445C>T (p.Arg149Trp)
c.625C>T (p.Arg209Trp)
c.301C>T (p.Arg101Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.231265353G>ACA1451841GNPATc.629G>A (p.Arg210Gln)
c.*315G>A (n.*315G>A)
c.599G>A (p.Arg200Gln)
c.446G>A (p.Arg149Gln)
c.626G>A (p.Arg209Gln)
c.302G>A (p.Arg101Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.231265353G>CCA345233233GNPATc.629G>C (p.Arg210Pro)
c.*315G>C (n.*315G>C)
c.599G>C (p.Arg200Pro)
c.446G>C (p.Arg149Pro)
c.626G>C (p.Arg209Pro)
c.302G>C (p.Arg101Pro)
1g.231265353G=CA1141858284GNPATc.629G= (p.Arg210=)
c.*315G= (n.*315G=)
c.599G= (p.Arg200=)
c.446G= (p.Arg149=)
c.626G= (p.Arg209=)
c.302G= (p.Arg101=)
1g.231265353G>TCA345233235GNPATc.629G>T (p.Arg210Leu)
c.*315G>T (n.*315G>T)
c.599G>T (p.Arg200Leu)
c.446G>T (p.Arg149Leu)
c.626G>T (p.Arg209Leu)
c.302G>T (p.Arg101Leu)
1g.231265354G>ACA423902346GNPATc.630G>A (p.Arg210=)
c.*316G>A (n.*316G>A)
c.600G>A (p.Arg200=)
c.447G>A (p.Arg149=)
c.627G>A (p.Arg209=)
c.303G>A (p.Arg101=)
1g.231265354G>CCA423902348GNPATc.630G>C (p.Arg210=)
c.*316G>C (n.*316G>C)
c.600G>C (p.Arg200=)
c.447G>C (p.Arg149=)
c.627G>C (p.Arg209=)
c.303G>C (p.Arg101=)
1g.231265354G>TCA423902350GNPATc.630G>T (p.Arg210=)
c.*316G>T (n.*316G>T)
c.600G>T (p.Arg200=)
c.447G>T (p.Arg149=)
c.627G>T (p.Arg209=)
c.303G>T (p.Arg101=)
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

Number of alleles fetched