Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.44669298T>ACA392241361PATL2c.1046A>T (p.Gln349Leu)
c.479A>T (p.Gln160Leu)
c.1037A>T (p.Gln346Leu)
c.824A>T (p.Gln275Leu)
c.794A>T (p.Gln265Leu)
c.785A>T (p.Gln262Leu)
c.611A>T (p.Gln204Leu)
c.1160A>T (p.Gln387Leu)
c.1151A>T (p.Gln384Leu)
c.725A>T (p.Gln242Leu)
c.953A>T (p.Gln318Leu)
15g.44669298T>CCA392241365PATL2c.1046A>G (p.Gln349Arg)
c.479A>G (p.Gln160Arg)
c.1037A>G (p.Gln346Arg)
c.824A>G (p.Gln275Arg)
c.794A>G (p.Gln265Arg)
c.785A>G (p.Gln262Arg)
c.611A>G (p.Gln204Arg)
c.1160A>G (p.Gln387Arg)
c.1151A>G (p.Gln384Arg)
c.725A>G (p.Gln242Arg)
c.953A>G (p.Gln318Arg)
15g.44669298T>GCA392241363PATL2c.1046A>C (p.Gln349Pro)
c.479A>C (p.Gln160Pro)
c.1037A>C (p.Gln346Pro)
c.824A>C (p.Gln275Pro)
c.794A>C (p.Gln265Pro)
c.785A>C (p.Gln262Pro)
c.611A>C (p.Gln204Pro)
c.1160A>C (p.Gln387Pro)
c.1151A>C (p.Gln384Pro)
c.725A>C (p.Gln242Pro)
c.953A>C (p.Gln318Pro)
15g.44669298T=CA2173726635PATL2c.1046A= (p.Gln349=)
c.479A= (p.Gln160=)
c.1037A= (p.Gln346=)
c.824A= (p.Gln275=)
c.794A= (p.Gln265=)
c.785A= (p.Gln262=)
c.611A= (p.Gln204=)
c.1160A= (p.Gln387=)
c.1151A= (p.Gln384=)
c.725A= (p.Gln242=)
c.953A= (p.Gln318=)
15g.44669299G>ACA392241367PATL2c.1045C>T (p.Gln349Ter)
c.478C>T (p.Gln160Ter)
c.1036C>T (p.Gln346Ter)
c.823C>T (p.Gln275Ter)
c.793C>T (p.Gln265Ter)
c.784C>T (p.Gln262Ter)
c.610C>T (p.Gln204Ter)
c.1159C>T (p.Gln387Ter)
c.1150C>T (p.Gln384Ter)
c.724C>T (p.Gln242Ter)
c.952C>T (p.Gln318Ter)
15g.44669299G>CCA270118830PATL2c.1045C>G (p.Gln349Glu)
c.478C>G (p.Gln160Glu)
c.1036C>G (p.Gln346Glu)
c.823C>G (p.Gln275Glu)
c.793C>G (p.Gln265Glu)
c.784C>G (p.Gln262Glu)
c.610C>G (p.Gln204Glu)
c.1159C>G (p.Gln387Glu)
c.1150C>G (p.Gln384Glu)
c.724C>G (p.Gln242Glu)
c.952C>G (p.Gln318Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.44669299G=CA2173726637PATL2c.1045C= (p.Gln349=)
c.478C= (p.Gln160=)
c.1036C= (p.Gln346=)
c.823C= (p.Gln275=)
c.793C= (p.Gln265=)
c.784C= (p.Gln262=)
c.610C= (p.Gln204=)
c.1159C= (p.Gln387=)
c.1150C= (p.Gln384=)
c.724C= (p.Gln242=)
c.952C= (p.Gln318=)
15g.44669299G>TCA392241370PATL2c.1045C>A (p.Gln349Lys)
c.478C>A (p.Gln160Lys)
c.1036C>A (p.Gln346Lys)
c.823C>A (p.Gln275Lys)
c.793C>A (p.Gln265Lys)
c.784C>A (p.Gln262Lys)
c.610C>A (p.Gln204Lys)
c.1159C>A (p.Gln387Lys)
c.1150C>A (p.Gln384Lys)
c.724C>A (p.Gln242Lys)
c.952C>A (p.Gln318Lys)
15g.44669301dupCA969299829PATL2c.1045dup (p.Gln349ProfsTer?)
c.478dup (p.Gln160ProfsTer?)
c.1036dup (p.Gln346ProfsTer?)
c.823dup (p.Gln275ProfsTer?)
c.793dup (p.Gln265ProfsTer?)
c.784dup (p.Gln262ProfsTer?)
c.610dup (p.Gln204ProfsTer?)
c.1159dup (p.Gln387ProfsTer?)
c.1150dup (p.Gln384ProfsTer?)
c.724dup (p.Gln242ProfsTer?)
c.952dup (p.Gln318ProfsTer?)
 dbSNP gnomAD v3 gnomAD v4
15g.44669300G>ACA7536085PATL2c.1044C>T (p.Thr348=)
c.477C>T (p.Thr159=)
c.1035C>T (p.Thr345=)
c.822C>T (p.Thr274=)
c.792C>T (p.Thr264=)
c.783C>T (p.Thr261=)
c.609C>T (p.Thr203=)
c.1158C>T (p.Thr386=)
c.1149C>T (p.Thr383=)
c.723C>T (p.Thr241=)
c.951C>T (p.Thr317=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.44669300G>CCA490210352PATL2c.1044C>G (p.Thr348=)
c.477C>G (p.Thr159=)
c.1035C>G (p.Thr345=)
c.822C>G (p.Thr274=)
c.792C>G (p.Thr264=)
c.783C>G (p.Thr261=)
c.609C>G (p.Thr203=)
c.1158C>G (p.Thr386=)
c.1149C>G (p.Thr383=)
c.723C>G (p.Thr241=)
c.951C>G (p.Thr317=)
 gnomAD v4
15g.44669300G=CA2173726642PATL2c.1044C= (p.Thr348=)
c.477C= (p.Thr159=)
c.1035C= (p.Thr345=)
c.822C= (p.Thr274=)
c.792C= (p.Thr264=)
c.783C= (p.Thr261=)
c.609C= (p.Thr203=)
c.1158C= (p.Thr386=)
c.1149C= (p.Thr383=)
c.723C= (p.Thr241=)
c.951C= (p.Thr317=)
15g.44669300G>TCA490210353PATL2c.1044C>A (p.Thr348=)
c.477C>A (p.Thr159=)
c.1035C>A (p.Thr345=)
c.822C>A (p.Thr274=)
c.792C>A (p.Thr264=)
c.783C>A (p.Thr261=)
c.609C>A (p.Thr203=)
c.1158C>A (p.Thr386=)
c.1149C>A (p.Thr383=)
c.723C>A (p.Thr241=)
c.951C>A (p.Thr317=)
 gnomAD v4
15g.44669301G>ACA392241373PATL2c.1043C>T (p.Thr348Ile)
c.476C>T (p.Thr159Ile)
c.1034C>T (p.Thr345Ile)
c.821C>T (p.Thr274Ile)
c.791C>T (p.Thr264Ile)
c.782C>T (p.Thr261Ile)
c.608C>T (p.Thr203Ile)
c.1157C>T (p.Thr386Ile)
c.1148C>T (p.Thr383Ile)
c.722C>T (p.Thr241Ile)
c.950C>T (p.Thr317Ile)
15g.44669301G>CCA392241374PATL2c.1043C>G (p.Thr348Ser)
c.476C>G (p.Thr159Ser)
c.1034C>G (p.Thr345Ser)
c.821C>G (p.Thr274Ser)
c.791C>G (p.Thr264Ser)
c.782C>G (p.Thr261Ser)
c.608C>G (p.Thr203Ser)
c.1157C>G (p.Thr386Ser)
c.1148C>G (p.Thr383Ser)
c.722C>G (p.Thr241Ser)
c.950C>G (p.Thr317Ser)
15g.44669301G>TCA392241376PATL2c.1043C>A (p.Thr348Asn)
c.476C>A (p.Thr159Asn)
c.1034C>A (p.Thr345Asn)
c.821C>A (p.Thr274Asn)
c.791C>A (p.Thr264Asn)
c.782C>A (p.Thr261Asn)
c.608C>A (p.Thr203Asn)
c.1157C>A (p.Thr386Asn)
c.1148C>A (p.Thr383Asn)
c.722C>A (p.Thr241Asn)
c.950C>A (p.Thr317Asn)
15g.44669302T>ACA392241377PATL2c.1042A>T (p.Thr348Ser)
c.475A>T (p.Thr159Ser)
c.1033A>T (p.Thr345Ser)
c.820A>T (p.Thr274Ser)
c.790A>T (p.Thr264Ser)
c.781A>T (p.Thr261Ser)
c.607A>T (p.Thr203Ser)
c.1156A>T (p.Thr386Ser)
c.1147A>T (p.Thr383Ser)
c.721A>T (p.Thr241Ser)
c.949A>T (p.Thr317Ser)
15g.44669302T>CCA392241379PATL2c.1042A>G (p.Thr348Ala)
c.475A>G (p.Thr159Ala)
c.1033A>G (p.Thr345Ala)
c.820A>G (p.Thr274Ala)
c.790A>G (p.Thr264Ala)
c.781A>G (p.Thr261Ala)
c.607A>G (p.Thr203Ala)
c.1156A>G (p.Thr386Ala)
c.1147A>G (p.Thr383Ala)
c.721A>G (p.Thr241Ala)
c.949A>G (p.Thr317Ala)
15g.44669302T>GCA392241381PATL2c.1042A>C (p.Thr348Pro)
c.475A>C (p.Thr159Pro)
c.1033A>C (p.Thr345Pro)
c.820A>C (p.Thr274Pro)
c.790A>C (p.Thr264Pro)
c.781A>C (p.Thr261Pro)
c.607A>C (p.Thr203Pro)
c.1156A>C (p.Thr386Pro)
c.1147A>C (p.Thr383Pro)
c.721A>C (p.Thr241Pro)
c.949A>C (p.Thr317Pro)
15g.44669303C>ACA392241383PATL2c.1041G>T (p.Lys347Asn)
c.474G>T (p.Lys158Asn)
c.1032G>T (p.Lys344Asn)
c.819G>T (p.Lys273Asn)
c.789G>T (p.Lys263Asn)
c.780G>T (p.Lys260Asn)
c.606G>T (p.Lys202Asn)
c.1155G>T (p.Lys385Asn)
c.1146G>T (p.Lys382Asn)
c.720G>T (p.Lys240Asn)
c.948G>T (p.Lys316Asn)
15g.44669303C>GCA392241385PATL2c.1041G>C (p.Lys347Asn)
c.474G>C (p.Lys158Asn)
c.1032G>C (p.Lys344Asn)
c.819G>C (p.Lys273Asn)
c.789G>C (p.Lys263Asn)
c.780G>C (p.Lys260Asn)
c.606G>C (p.Lys202Asn)
c.1155G>C (p.Lys385Asn)
c.1146G>C (p.Lys382Asn)
c.720G>C (p.Lys240Asn)
c.948G>C (p.Lys316Asn)
15g.44669303C>TCA490210354PATL2c.1041G>A (p.Lys347=)
c.474G>A (p.Lys158=)
c.1032G>A (p.Lys344=)
c.819G>A (p.Lys273=)
c.789G>A (p.Lys263=)
c.780G>A (p.Lys260=)
c.606G>A (p.Lys202=)
c.1155G>A (p.Lys385=)
c.1146G>A (p.Lys382=)
c.720G>A (p.Lys240=)
c.948G>A (p.Lys316=)
15g.44669304T>ACA392241386PATL2c.1040A>T (p.Lys347Met)
c.473A>T (p.Lys158Met)
c.1031A>T (p.Lys344Met)
c.818A>T (p.Lys273Met)
c.788A>T (p.Lys263Met)
c.779A>T (p.Lys260Met)
c.605A>T (p.Lys202Met)
c.1154A>T (p.Lys385Met)
c.1145A>T (p.Lys382Met)
c.719A>T (p.Lys240Met)
c.947A>T (p.Lys316Met)
15g.44669304T>CCA392241388PATL2c.1040A>G (p.Lys347Arg)
c.473A>G (p.Lys158Arg)
c.1031A>G (p.Lys344Arg)
c.818A>G (p.Lys273Arg)
c.788A>G (p.Lys263Arg)
c.779A>G (p.Lys260Arg)
c.605A>G (p.Lys202Arg)
c.1154A>G (p.Lys385Arg)
c.1145A>G (p.Lys382Arg)
c.719A>G (p.Lys240Arg)
c.947A>G (p.Lys316Arg)
15g.44669304T>GCA392241390PATL2c.1040A>C (p.Lys347Thr)
c.473A>C (p.Lys158Thr)
c.1031A>C (p.Lys344Thr)
c.818A>C (p.Lys273Thr)
c.788A>C (p.Lys263Thr)
c.779A>C (p.Lys260Thr)
c.605A>C (p.Lys202Thr)
c.1154A>C (p.Lys385Thr)
c.1145A>C (p.Lys382Thr)
c.719A>C (p.Lys240Thr)
c.947A>C (p.Lys316Thr)
15g.44669305T>ACA392241391PATL2c.1039A>T (p.Lys347Ter)
c.472A>T (p.Lys158Ter)
c.1030A>T (p.Lys344Ter)
c.817A>T (p.Lys273Ter)
c.787A>T (p.Lys263Ter)
c.778A>T (p.Lys260Ter)
c.604A>T (p.Lys202Ter)
c.1153A>T (p.Lys385Ter)
c.1144A>T (p.Lys382Ter)
c.718A>T (p.Lys240Ter)
c.946A>T (p.Lys316Ter)
15g.44669305T>CCA392241392PATL2c.1039A>G (p.Lys347Glu)
c.472A>G (p.Lys158Glu)
c.1030A>G (p.Lys344Glu)
c.817A>G (p.Lys273Glu)
c.787A>G (p.Lys263Glu)
c.778A>G (p.Lys260Glu)
c.604A>G (p.Lys202Glu)
c.1153A>G (p.Lys385Glu)
c.1144A>G (p.Lys382Glu)
c.718A>G (p.Lys240Glu)
c.946A>G (p.Lys316Glu)
15g.44669305T>GCA392241393PATL2c.1039A>C (p.Lys347Gln)
c.472A>C (p.Lys158Gln)
c.1030A>C (p.Lys344Gln)
c.817A>C (p.Lys273Gln)
c.787A>C (p.Lys263Gln)
c.778A>C (p.Lys260Gln)
c.604A>C (p.Lys202Gln)
c.1153A>C (p.Lys385Gln)
c.1144A>C (p.Lys382Gln)
c.718A>C (p.Lys240Gln)
c.946A>C (p.Lys316Gln)
15g.44669306T>ACA392241394PATL2c.1038A>T (p.Leu346Phe)
c.471A>T (p.Leu157Phe)
c.1029A>T (p.Leu343Phe)
c.816A>T (p.Leu272Phe)
c.786A>T (p.Leu262Phe)
c.777A>T (p.Leu259Phe)
c.603A>T (p.Leu201Phe)
c.1152A>T (p.Leu384Phe)
c.1143A>T (p.Leu381Phe)
c.717A>T (p.Leu239Phe)
c.945A>T (p.Leu315Phe)
15g.44669306T>CCA490210355PATL2c.1038A>G (p.Leu346=)
c.471A>G (p.Leu157=)
c.1029A>G (p.Leu343=)
c.816A>G (p.Leu272=)
c.786A>G (p.Leu262=)
c.777A>G (p.Leu259=)
c.603A>G (p.Leu201=)
c.1152A>G (p.Leu384=)
c.1143A>G (p.Leu381=)
c.717A>G (p.Leu239=)
c.945A>G (p.Leu315=)
15g.44669306T>GCA392241395PATL2c.1038A>C (p.Leu346Phe)
c.471A>C (p.Leu157Phe)
c.1029A>C (p.Leu343Phe)
c.816A>C (p.Leu272Phe)
c.786A>C (p.Leu262Phe)
c.777A>C (p.Leu259Phe)
c.603A>C (p.Leu201Phe)
c.1152A>C (p.Leu384Phe)
c.1143A>C (p.Leu381Phe)
c.717A>C (p.Leu239Phe)
c.945A>C (p.Leu315Phe)
15g.44669307A>CCA392241396PATL2c.1037T>G (p.Leu346Ter)
c.470T>G (p.Leu157Ter)
c.1028T>G (p.Leu343Ter)
c.815T>G (p.Leu272Ter)
c.785T>G (p.Leu262Ter)
c.776T>G (p.Leu259Ter)
c.602T>G (p.Leu201Ter)
c.1151T>G (p.Leu384Ter)
c.1142T>G (p.Leu381Ter)
c.716T>G (p.Leu239Ter)
c.944T>G (p.Leu315Ter)
 gnomAD v4
15g.44669307A>GCA392241397PATL2c.1037T>C (p.Leu346Ser)
c.470T>C (p.Leu157Ser)
c.1028T>C (p.Leu343Ser)
c.815T>C (p.Leu272Ser)
c.785T>C (p.Leu262Ser)
c.776T>C (p.Leu259Ser)
c.602T>C (p.Leu201Ser)
c.1151T>C (p.Leu384Ser)
c.1142T>C (p.Leu381Ser)
c.716T>C (p.Leu239Ser)
c.944T>C (p.Leu315Ser)
15g.44669307A>TCA392241398PATL2c.1037T>A (p.Leu346Ter)
c.470T>A (p.Leu157Ter)
c.1028T>A (p.Leu343Ter)
c.815T>A (p.Leu272Ter)
c.785T>A (p.Leu262Ter)
c.776T>A (p.Leu259Ter)
c.602T>A (p.Leu201Ter)
c.1151T>A (p.Leu384Ter)
c.1142T>A (p.Leu381Ter)
c.716T>A (p.Leu239Ter)
c.944T>A (p.Leu315Ter)
15g.44669308A>CCA392241399PATL2c.1036T>G (p.Leu346Val)
c.469T>G (p.Leu157Val)
c.1027T>G (p.Leu343Val)
c.814T>G (p.Leu272Val)
c.784T>G (p.Leu262Val)
c.775T>G (p.Leu259Val)
c.601T>G (p.Leu201Val)
c.1150T>G (p.Leu384Val)
c.1141T>G (p.Leu381Val)
c.715T>G (p.Leu239Val)
c.943T>G (p.Leu315Val)
15g.44669308A>GCA490210356PATL2c.1036T>C (p.Leu346=)
c.469T>C (p.Leu157=)
c.1027T>C (p.Leu343=)
c.814T>C (p.Leu272=)
c.784T>C (p.Leu262=)
c.775T>C (p.Leu259=)
c.601T>C (p.Leu201=)
c.1150T>C (p.Leu384=)
c.1141T>C (p.Leu381=)
c.715T>C (p.Leu239=)
c.943T>C (p.Leu315=)
 gnomAD v4
15g.44669308A>TCA392241400PATL2c.1036T>A (p.Leu346Ile)
c.469T>A (p.Leu157Ile)
c.1027T>A (p.Leu343Ile)
c.814T>A (p.Leu272Ile)
c.784T>A (p.Leu262Ile)
c.775T>A (p.Leu259Ile)
c.601T>A (p.Leu201Ile)
c.1150T>A (p.Leu384Ile)
c.1141T>A (p.Leu381Ile)
c.715T>A (p.Leu239Ile)
c.943T>A (p.Leu315Ile)
15g.44669309G>ACA490210357PATL2c.1035C>T (p.Thr345=)
c.468C>T (p.Thr156=)
c.1026C>T (p.Thr342=)
c.813C>T (p.Thr271=)
c.783C>T (p.Thr261=)
c.774C>T (p.Thr258=)
c.600C>T (p.Thr200=)
c.1149C>T (p.Thr383=)
c.1140C>T (p.Thr380=)
c.714C>T (p.Thr238=)
c.942C>T (p.Thr314=)
 gnomAD v4
15g.44669309G>CCA490210358PATL2c.1035C>G (p.Thr345=)
c.468C>G (p.Thr156=)
c.1026C>G (p.Thr342=)
c.813C>G (p.Thr271=)
c.783C>G (p.Thr261=)
c.774C>G (p.Thr258=)
c.600C>G (p.Thr200=)
c.1149C>G (p.Thr383=)
c.1140C>G (p.Thr380=)
c.714C>G (p.Thr238=)
c.942C>G (p.Thr314=)
15g.44669309G>TCA490210359PATL2c.1035C>A (p.Thr345=)
c.468C>A (p.Thr156=)
c.1026C>A (p.Thr342=)
c.813C>A (p.Thr271=)
c.783C>A (p.Thr261=)
c.774C>A (p.Thr258=)
c.600C>A (p.Thr200=)
c.1149C>A (p.Thr383=)
c.1140C>A (p.Thr380=)
c.714C>A (p.Thr238=)
c.942C>A (p.Thr314=)
15g.44669310G>ACA392241401PATL2c.1034C>T (p.Thr345Ile)
c.467C>T (p.Thr156Ile)
c.1025C>T (p.Thr342Ile)
c.812C>T (p.Thr271Ile)
c.782C>T (p.Thr261Ile)
c.773C>T (p.Thr258Ile)
c.599C>T (p.Thr200Ile)
c.1148C>T (p.Thr383Ile)
c.1139C>T (p.Thr380Ile)
c.713C>T (p.Thr238Ile)
c.941C>T (p.Thr314Ile)
 gnomAD v4
15g.44669310G>CCA392241403PATL2c.1034C>G (p.Thr345Ser)
c.467C>G (p.Thr156Ser)
c.1025C>G (p.Thr342Ser)
c.812C>G (p.Thr271Ser)
c.782C>G (p.Thr261Ser)
c.773C>G (p.Thr258Ser)
c.599C>G (p.Thr200Ser)
c.1148C>G (p.Thr383Ser)
c.1139C>G (p.Thr380Ser)
c.713C>G (p.Thr238Ser)
c.941C>G (p.Thr314Ser)
15g.44669310G>TCA392241402PATL2c.1034C>A (p.Thr345Asn)
c.467C>A (p.Thr156Asn)
c.1025C>A (p.Thr342Asn)
c.812C>A (p.Thr271Asn)
c.782C>A (p.Thr261Asn)
c.773C>A (p.Thr258Asn)
c.599C>A (p.Thr200Asn)
c.1148C>A (p.Thr383Asn)
c.1139C>A (p.Thr380Asn)
c.713C>A (p.Thr238Asn)
c.941C>A (p.Thr314Asn)
 COSMIC
15g.44669311T>ACA392241404PATL2c.1033A>T (p.Thr345Ser)
c.466A>T (p.Thr156Ser)
c.1024A>T (p.Thr342Ser)
c.811A>T (p.Thr271Ser)
c.781A>T (p.Thr261Ser)
c.772A>T (p.Thr258Ser)
c.598A>T (p.Thr200Ser)
c.1147A>T (p.Thr383Ser)
c.1138A>T (p.Thr380Ser)
c.712A>T (p.Thr238Ser)
c.940A>T (p.Thr314Ser)
15g.44669311T>CCA392241405PATL2c.1033A>G (p.Thr345Ala)
c.466A>G (p.Thr156Ala)
c.1024A>G (p.Thr342Ala)
c.811A>G (p.Thr271Ala)
c.781A>G (p.Thr261Ala)
c.772A>G (p.Thr258Ala)
c.598A>G (p.Thr200Ala)
c.1147A>G (p.Thr383Ala)
c.1138A>G (p.Thr380Ala)
c.712A>G (p.Thr238Ala)
c.940A>G (p.Thr314Ala)
 dbSNP gnomAD v4
15g.44669311T>GCA392241406PATL2c.1033A>C (p.Thr345Pro)
c.466A>C (p.Thr156Pro)
c.1024A>C (p.Thr342Pro)
c.811A>C (p.Thr271Pro)
c.781A>C (p.Thr261Pro)
c.772A>C (p.Thr258Pro)
c.598A>C (p.Thr200Pro)
c.1147A>C (p.Thr383Pro)
c.1138A>C (p.Thr380Pro)
c.712A>C (p.Thr238Pro)
c.940A>C (p.Thr314Pro)
15g.44669311T=CA2173726647PATL2c.1033A= (p.Thr345=)
c.466A= (p.Thr156=)
c.1024A= (p.Thr342=)
c.811A= (p.Thr271=)
c.781A= (p.Thr261=)
c.772A= (p.Thr258=)
c.598A= (p.Thr200=)
c.1147A= (p.Thr383=)
c.1138A= (p.Thr380=)
c.712A= (p.Thr238=)
c.940A= (p.Thr314=)
15g.44669312C>ACA392241407PATL2c.1032G>T (p.Gln344His)
c.465G>T (p.Gln155His)
c.1023G>T (p.Gln341His)
c.810G>T (p.Gln270His)
c.780G>T (p.Gln260His)
c.771G>T (p.Gln257His)
c.597G>T (p.Gln199His)
c.1146G>T (p.Gln382His)
c.1137G>T (p.Gln379His)
c.711G>T (p.Gln237His)
c.939G>T (p.Gln313His)
15g.44669312C>GCA392241408PATL2c.1032G>C (p.Gln344His)
c.465G>C (p.Gln155His)
c.1023G>C (p.Gln341His)
c.810G>C (p.Gln270His)
c.780G>C (p.Gln260His)
c.771G>C (p.Gln257His)
c.597G>C (p.Gln199His)
c.1146G>C (p.Gln382His)
c.1137G>C (p.Gln379His)
c.711G>C (p.Gln237His)
c.939G>C (p.Gln313His)
15g.44669312C>TCA490210360PATL2c.1032G>A (p.Gln344=)
c.465G>A (p.Gln155=)
c.1023G>A (p.Gln341=)
c.810G>A (p.Gln270=)
c.780G>A (p.Gln260=)
c.771G>A (p.Gln257=)
c.597G>A (p.Gln199=)
c.1146G>A (p.Gln382=)
c.1137G>A (p.Gln379=)
c.711G>A (p.Gln237=)
c.939G>A (p.Gln313=)
15g.44669313T>ACA392241409PATL2c.1031A>T (p.Gln344Leu)
c.464A>T (p.Gln155Leu)
c.1022A>T (p.Gln341Leu)
c.809A>T (p.Gln270Leu)
c.779A>T (p.Gln260Leu)
c.770A>T (p.Gln257Leu)
c.596A>T (p.Gln199Leu)
c.1145A>T (p.Gln382Leu)
c.1136A>T (p.Gln379Leu)
c.710A>T (p.Gln237Leu)
c.938A>T (p.Gln313Leu)
15g.44669313T>CCA392241410PATL2c.1031A>G (p.Gln344Arg)
c.464A>G (p.Gln155Arg)
c.1022A>G (p.Gln341Arg)
c.809A>G (p.Gln270Arg)
c.779A>G (p.Gln260Arg)
c.770A>G (p.Gln257Arg)
c.596A>G (p.Gln199Arg)
c.1145A>G (p.Gln382Arg)
c.1136A>G (p.Gln379Arg)
c.710A>G (p.Gln237Arg)
c.938A>G (p.Gln313Arg)
 dbSNP
15g.44669313T>GCA392241411PATL2c.1031A>C (p.Gln344Pro)
c.464A>C (p.Gln155Pro)
c.1022A>C (p.Gln341Pro)
c.809A>C (p.Gln270Pro)
c.779A>C (p.Gln260Pro)
c.770A>C (p.Gln257Pro)
c.596A>C (p.Gln199Pro)
c.1145A>C (p.Gln382Pro)
c.1136A>C (p.Gln379Pro)
c.710A>C (p.Gln237Pro)
c.938A>C (p.Gln313Pro)
15g.44669314G>ACA270118842PATL2c.1030C>T (p.Gln344Ter)
c.463C>T (p.Gln155Ter)
c.1021C>T (p.Gln341Ter)
c.808C>T (p.Gln270Ter)
c.778C>T (p.Gln260Ter)
c.769C>T (p.Gln257Ter)
c.595C>T (p.Gln199Ter)
c.1144C>T (p.Gln382Ter)
c.1135C>T (p.Gln379Ter)
c.709C>T (p.Gln237Ter)
c.937C>T (p.Gln313Ter)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
15g.44669314G>CCA392241412PATL2c.1030C>G (p.Gln344Glu)
c.463C>G (p.Gln155Glu)
c.1021C>G (p.Gln341Glu)
c.808C>G (p.Gln270Glu)
c.778C>G (p.Gln260Glu)
c.769C>G (p.Gln257Glu)
c.595C>G (p.Gln199Glu)
c.1144C>G (p.Gln382Glu)
c.1135C>G (p.Gln379Glu)
c.709C>G (p.Gln237Glu)
c.937C>G (p.Gln313Glu)
15g.44669314G=CA2173726650PATL2c.1030C= (p.Gln344=)
c.463C= (p.Gln155=)
c.1021C= (p.Gln341=)
c.808C= (p.Gln270=)
c.778C= (p.Gln260=)
c.769C= (p.Gln257=)
c.595C= (p.Gln199=)
c.1144C= (p.Gln382=)
c.1135C= (p.Gln379=)
c.709C= (p.Gln237=)
c.937C= (p.Gln313=)
15g.44669314G>TCA392241413PATL2c.1030C>A (p.Gln344Lys)
c.463C>A (p.Gln155Lys)
c.1021C>A (p.Gln341Lys)
c.808C>A (p.Gln270Lys)
c.778C>A (p.Gln260Lys)
c.769C>A (p.Gln257Lys)
c.595C>A (p.Gln199Lys)
c.1144C>A (p.Gln382Lys)
c.1135C>A (p.Gln379Lys)
c.709C>A (p.Gln237Lys)
c.937C>A (p.Gln313Lys)
15g.44669315G>ACA490210361PATL2c.1029C>T (p.Phe343=)
c.462C>T (p.Phe154=)
c.1020C>T (p.Phe340=)
c.807C>T (p.Phe269=)
c.777C>T (p.Phe259=)
c.768C>T (p.Phe256=)
c.594C>T (p.Phe198=)
c.1143C>T (p.Phe381=)
c.1134C>T (p.Phe378=)
c.708C>T (p.Phe236=)
c.936C>T (p.Phe312=)
15g.44669315G>CCA392241414PATL2c.1029C>G (p.Phe343Leu)
c.462C>G (p.Phe154Leu)
c.1020C>G (p.Phe340Leu)
c.807C>G (p.Phe269Leu)
c.777C>G (p.Phe259Leu)
c.768C>G (p.Phe256Leu)
c.594C>G (p.Phe198Leu)
c.1143C>G (p.Phe381Leu)
c.1134C>G (p.Phe378Leu)
c.708C>G (p.Phe236Leu)
c.936C>G (p.Phe312Leu)
 dbSNP gnomAD v4
15g.44669315G=CA2173726655PATL2c.1029C= (p.Phe343=)
c.462C= (p.Phe154=)
c.1020C= (p.Phe340=)
c.807C= (p.Phe269=)
c.777C= (p.Phe259=)
c.768C= (p.Phe256=)
c.594C= (p.Phe198=)
c.1143C= (p.Phe381=)
c.1134C= (p.Phe378=)
c.708C= (p.Phe236=)
c.936C= (p.Phe312=)
15g.44669315G>TCA392241415PATL2c.1029C>A (p.Phe343Leu)
c.462C>A (p.Phe154Leu)
c.1020C>A (p.Phe340Leu)
c.807C>A (p.Phe269Leu)
c.777C>A (p.Phe259Leu)
c.768C>A (p.Phe256Leu)
c.594C>A (p.Phe198Leu)
c.1143C>A (p.Phe381Leu)
c.1134C>A (p.Phe378Leu)
c.708C>A (p.Phe236Leu)
c.936C>A (p.Phe312Leu)
 dbSNP gnomAD v2 gnomAD v4
15g.44669316A>CCA392241416PATL2c.1028T>G (p.Phe343Cys)
c.461T>G (p.Phe154Cys)
c.1019T>G (p.Phe340Cys)
c.806T>G (p.Phe269Cys)
c.776T>G (p.Phe259Cys)
c.767T>G (p.Phe256Cys)
c.593T>G (p.Phe198Cys)
c.1142T>G (p.Phe381Cys)
c.1133T>G (p.Phe378Cys)
c.707T>G (p.Phe236Cys)
c.935T>G (p.Phe312Cys)
15g.44669316A>GCA392241418PATL2c.1028T>C (p.Phe343Ser)
c.461T>C (p.Phe154Ser)
c.1019T>C (p.Phe340Ser)
c.806T>C (p.Phe269Ser)
c.776T>C (p.Phe259Ser)
c.767T>C (p.Phe256Ser)
c.593T>C (p.Phe198Ser)
c.1142T>C (p.Phe381Ser)
c.1133T>C (p.Phe378Ser)
c.707T>C (p.Phe236Ser)
c.935T>C (p.Phe312Ser)
15g.44669316A>TCA392241417PATL2c.1028T>A (p.Phe343Tyr)
c.461T>A (p.Phe154Tyr)
c.1019T>A (p.Phe340Tyr)
c.806T>A (p.Phe269Tyr)
c.776T>A (p.Phe259Tyr)
c.767T>A (p.Phe256Tyr)
c.593T>A (p.Phe198Tyr)
c.1142T>A (p.Phe381Tyr)
c.1133T>A (p.Phe378Tyr)
c.707T>A (p.Phe236Tyr)
c.935T>A (p.Phe312Tyr)
15g.44669317A>CCA392241419PATL2c.1027T>G (p.Phe343Val)
c.460T>G (p.Phe154Val)
c.1018T>G (p.Phe340Val)
c.805T>G (p.Phe269Val)
c.775T>G (p.Phe259Val)
c.766T>G (p.Phe256Val)
c.592T>G (p.Phe198Val)
c.1141T>G (p.Phe381Val)
c.1132T>G (p.Phe378Val)
c.706T>G (p.Phe236Val)
c.934T>G (p.Phe312Val)
15g.44669317A>GCA392241420PATL2c.1027T>C (p.Phe343Leu)
c.460T>C (p.Phe154Leu)
c.1018T>C (p.Phe340Leu)
c.805T>C (p.Phe269Leu)
c.775T>C (p.Phe259Leu)
c.766T>C (p.Phe256Leu)
c.592T>C (p.Phe198Leu)
c.1141T>C (p.Phe381Leu)
c.1132T>C (p.Phe378Leu)
c.706T>C (p.Phe236Leu)
c.934T>C (p.Phe312Leu)
15g.44669317A>TCA392241421PATL2c.1027T>A (p.Phe343Ile)
c.460T>A (p.Phe154Ile)
c.1018T>A (p.Phe340Ile)
c.805T>A (p.Phe269Ile)
c.775T>A (p.Phe259Ile)
c.766T>A (p.Phe256Ile)
c.592T>A (p.Phe198Ile)
c.1141T>A (p.Phe381Ile)
c.1132T>A (p.Phe378Ile)
c.706T>A (p.Phe236Ile)
c.934T>A (p.Phe312Ile)
15g.44669318G>ACA490210362PATL2c.1026C>T (p.Leu342=)
c.459C>T (p.Leu153=)
c.1017C>T (p.Leu339=)
c.804C>T (p.Leu268=)
c.774C>T (p.Leu258=)
c.765C>T (p.Leu255=)
c.591C>T (p.Leu197=)
c.1140C>T (p.Leu380=)
c.1131C>T (p.Leu377=)
c.705C>T (p.Leu235=)
c.933C>T (p.Leu311=)
 dbSNP gnomAD v4
15g.44669318G>CCA490210363PATL2c.1026C>G (p.Leu342=)
c.459C>G (p.Leu153=)
c.1017C>G (p.Leu339=)
c.804C>G (p.Leu268=)
c.774C>G (p.Leu258=)
c.765C>G (p.Leu255=)
c.591C>G (p.Leu197=)
c.1140C>G (p.Leu380=)
c.1131C>G (p.Leu377=)
c.705C>G (p.Leu235=)
c.933C>G (p.Leu311=)
15g.44669318G=CA2173726657PATL2c.1026C= (p.Leu342=)
c.459C= (p.Leu153=)
c.1017C= (p.Leu339=)
c.804C= (p.Leu268=)
c.774C= (p.Leu258=)
c.765C= (p.Leu255=)
c.591C= (p.Leu197=)
c.1140C= (p.Leu380=)
c.1131C= (p.Leu377=)
c.705C= (p.Leu235=)
c.933C= (p.Leu311=)
15g.44669318G>TCA490210364PATL2c.1026C>A (p.Leu342=)
c.459C>A (p.Leu153=)
c.1017C>A (p.Leu339=)
c.804C>A (p.Leu268=)
c.774C>A (p.Leu258=)
c.765C>A (p.Leu255=)
c.591C>A (p.Leu197=)
c.1140C>A (p.Leu380=)
c.1131C>A (p.Leu377=)
c.705C>A (p.Leu235=)
c.933C>A (p.Leu311=)
15g.44669319A>CCA392241422PATL2c.1025T>G (p.Leu342Arg)
c.458T>G (p.Leu153Arg)
c.1016T>G (p.Leu339Arg)
c.803T>G (p.Leu268Arg)
c.773T>G (p.Leu258Arg)
c.764T>G (p.Leu255Arg)
c.590T>G (p.Leu197Arg)
c.1139T>G (p.Leu380Arg)
c.1130T>G (p.Leu377Arg)
c.704T>G (p.Leu235Arg)
c.932T>G (p.Leu311Arg)
15g.44669319A>GCA392241423PATL2c.1025T>C (p.Leu342Pro)
c.458T>C (p.Leu153Pro)
c.1016T>C (p.Leu339Pro)
c.803T>C (p.Leu268Pro)
c.773T>C (p.Leu258Pro)
c.764T>C (p.Leu255Pro)
c.590T>C (p.Leu197Pro)
c.1139T>C (p.Leu380Pro)
c.1130T>C (p.Leu377Pro)
c.704T>C (p.Leu235Pro)
c.932T>C (p.Leu311Pro)
15g.44669319A>TCA392241424PATL2c.1025T>A (p.Leu342His)
c.458T>A (p.Leu153His)
c.1016T>A (p.Leu339His)
c.803T>A (p.Leu268His)
c.773T>A (p.Leu258His)
c.764T>A (p.Leu255His)
c.590T>A (p.Leu197His)
c.1139T>A (p.Leu380His)
c.1130T>A (p.Leu377His)
c.704T>A (p.Leu235His)
c.932T>A (p.Leu311His)
15g.44669320G>ACA392241425PATL2c.1024C>T (p.Leu342Phe)
c.457C>T (p.Leu153Phe)
c.1015C>T (p.Leu339Phe)
c.802C>T (p.Leu268Phe)
c.772C>T (p.Leu258Phe)
c.763C>T (p.Leu255Phe)
c.589C>T (p.Leu197Phe)
c.1138C>T (p.Leu380Phe)
c.1129C>T (p.Leu377Phe)
c.703C>T (p.Leu235Phe)
c.931C>T (p.Leu311Phe)
 gnomAD v4
15g.44669320G>CCA392241426PATL2c.1024C>G (p.Leu342Val)
c.457C>G (p.Leu153Val)
c.1015C>G (p.Leu339Val)
c.802C>G (p.Leu268Val)
c.772C>G (p.Leu258Val)
c.763C>G (p.Leu255Val)
c.589C>G (p.Leu197Val)
c.1138C>G (p.Leu380Val)
c.1129C>G (p.Leu377Val)
c.703C>G (p.Leu235Val)
c.931C>G (p.Leu311Val)
 gnomAD v4
15g.44669320G>TCA392241427PATL2c.1024C>A (p.Leu342Ile)
c.457C>A (p.Leu153Ile)
c.1015C>A (p.Leu339Ile)
c.802C>A (p.Leu268Ile)
c.772C>A (p.Leu258Ile)
c.763C>A (p.Leu255Ile)
c.589C>A (p.Leu197Ile)
c.1138C>A (p.Leu380Ile)
c.1129C>A (p.Leu377Ile)
c.703C>A (p.Leu235Ile)
c.931C>A (p.Leu311Ile)
15g.44669321C>ACA392241428PATL2c.1023G>T (p.Lys341Asn)
c.456G>T (p.Lys152Asn)
c.1014G>T (p.Lys338Asn)
c.801G>T (p.Lys267Asn)
c.771G>T (p.Lys257Asn)
c.762G>T (p.Lys254Asn)
c.588G>T (p.Lys196Asn)
c.1137G>T (p.Lys379Asn)
c.1128G>T (p.Lys376Asn)
c.702G>T (p.Lys234Asn)
c.930G>T (p.Lys310Asn)
15g.44669321C>GCA392241429PATL2c.1023G>C (p.Lys341Asn)
c.456G>C (p.Lys152Asn)
c.1014G>C (p.Lys338Asn)
c.801G>C (p.Lys267Asn)
c.771G>C (p.Lys257Asn)
c.762G>C (p.Lys254Asn)
c.588G>C (p.Lys196Asn)
c.1137G>C (p.Lys379Asn)
c.1128G>C (p.Lys376Asn)
c.702G>C (p.Lys234Asn)
c.930G>C (p.Lys310Asn)
15g.44669321C>TCA490210365PATL2c.1023G>A (p.Lys341=)
c.456G>A (p.Lys152=)
c.1014G>A (p.Lys338=)
c.801G>A (p.Lys267=)
c.771G>A (p.Lys257=)
c.762G>A (p.Lys254=)
c.588G>A (p.Lys196=)
c.1137G>A (p.Lys379=)
c.1128G>A (p.Lys376=)
c.702G>A (p.Lys234=)
c.930G>A (p.Lys310=)
15g.44669322T>ACA392241432PATL2c.1022A>T (p.Lys341Met)
c.455A>T (p.Lys152Met)
c.1013A>T (p.Lys338Met)
c.800A>T (p.Lys267Met)
c.770A>T (p.Lys257Met)
c.761A>T (p.Lys254Met)
c.587A>T (p.Lys196Met)
c.1136A>T (p.Lys379Met)
c.1127A>T (p.Lys376Met)
c.701A>T (p.Lys234Met)
c.929A>T (p.Lys310Met)
15g.44669322T>CCA392241431PATL2c.1022A>G (p.Lys341Arg)
c.455A>G (p.Lys152Arg)
c.1013A>G (p.Lys338Arg)
c.800A>G (p.Lys267Arg)
c.770A>G (p.Lys257Arg)
c.761A>G (p.Lys254Arg)
c.587A>G (p.Lys196Arg)
c.1136A>G (p.Lys379Arg)
c.1127A>G (p.Lys376Arg)
c.701A>G (p.Lys234Arg)
c.929A>G (p.Lys310Arg)
 gnomAD v4
15g.44669322T>GCA392241430PATL2c.1022A>C (p.Lys341Thr)
c.455A>C (p.Lys152Thr)
c.1013A>C (p.Lys338Thr)
c.800A>C (p.Lys267Thr)
c.770A>C (p.Lys257Thr)
c.761A>C (p.Lys254Thr)
c.587A>C (p.Lys196Thr)
c.1136A>C (p.Lys379Thr)
c.1127A>C (p.Lys376Thr)
c.701A>C (p.Lys234Thr)
c.929A>C (p.Lys310Thr)
15g.44669323T>ACA392241433PATL2c.1021A>T (p.Lys341Ter)
c.454A>T (p.Lys152Ter)
c.1012A>T (p.Lys338Ter)
c.799A>T (p.Lys267Ter)
c.769A>T (p.Lys257Ter)
c.760A>T (p.Lys254Ter)
c.586A>T (p.Lys196Ter)
c.1135A>T (p.Lys379Ter)
c.1126A>T (p.Lys376Ter)
c.700A>T (p.Lys234Ter)
c.928A>T (p.Lys310Ter)
15g.44669323T>CCA392241434PATL2c.1021A>G (p.Lys341Glu)
c.454A>G (p.Lys152Glu)
c.1012A>G (p.Lys338Glu)
c.799A>G (p.Lys267Glu)
c.769A>G (p.Lys257Glu)
c.760A>G (p.Lys254Glu)
c.586A>G (p.Lys196Glu)
c.1135A>G (p.Lys379Glu)
c.1126A>G (p.Lys376Glu)
c.700A>G (p.Lys234Glu)
c.928A>G (p.Lys310Glu)
 gnomAD v4
15g.44669323T>GCA392241436PATL2c.1021A>C (p.Lys341Gln)
c.454A>C (p.Lys152Gln)
c.1012A>C (p.Lys338Gln)
c.799A>C (p.Lys267Gln)
c.769A>C (p.Lys257Gln)
c.760A>C (p.Lys254Gln)
c.586A>C (p.Lys196Gln)
c.1135A>C (p.Lys379Gln)
c.1126A>C (p.Lys376Gln)
c.700A>C (p.Lys234Gln)
c.928A>C (p.Lys310Gln)
15g.44669324C>ACA392241438PATL2c.1020G>T (p.Glu340Asp)
c.453G>T (p.Glu151Asp)
c.1011G>T (p.Glu337Asp)
c.798G>T (p.Glu266Asp)
c.768G>T (p.Glu256Asp)
c.759G>T (p.Glu253Asp)
c.585G>T (p.Glu195Asp)
c.1134G>T (p.Glu378Asp)
c.1125G>T (p.Glu375Asp)
c.699G>T (p.Glu233Asp)
c.927G>T (p.Glu309Asp)
15g.44669324C=CA2173726659PATL2c.1020G= (p.Glu340=)
c.453G= (p.Glu151=)
c.1011G= (p.Glu337=)
c.798G= (p.Glu266=)
c.768G= (p.Glu256=)
c.759G= (p.Glu253=)
c.585G= (p.Glu195=)
c.1134G= (p.Glu378=)
c.1125G= (p.Glu375=)
c.699G= (p.Glu233=)
c.927G= (p.Glu309=)
15g.44669324C>GCA392241440PATL2c.1020G>C (p.Glu340Asp)
c.453G>C (p.Glu151Asp)
c.1011G>C (p.Glu337Asp)
c.798G>C (p.Glu266Asp)
c.768G>C (p.Glu256Asp)
c.759G>C (p.Glu253Asp)
c.585G>C (p.Glu195Asp)
c.1134G>C (p.Glu378Asp)
c.1125G>C (p.Glu375Asp)
c.699G>C (p.Glu233Asp)
c.927G>C (p.Glu309Asp)
15g.44669324C>TCA490210366PATL2c.1020G>A (p.Glu340=)
c.453G>A (p.Glu151=)
c.1011G>A (p.Glu337=)
c.798G>A (p.Glu266=)
c.768G>A (p.Glu256=)
c.759G>A (p.Glu253=)
c.585G>A (p.Glu195=)
c.1134G>A (p.Glu378=)
c.1125G>A (p.Glu375=)
c.699G>A (p.Glu233=)
c.927G>A (p.Glu309=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.44669325T>ACA392241441PATL2c.1019A>T (p.Glu340Val)
c.452A>T (p.Glu151Val)
c.1010A>T (p.Glu337Val)
c.797A>T (p.Glu266Val)
c.767A>T (p.Glu256Val)
c.758A>T (p.Glu253Val)
c.584A>T (p.Glu195Val)
c.1133A>T (p.Glu378Val)
c.1124A>T (p.Glu375Val)
c.698A>T (p.Glu233Val)
c.926A>T (p.Glu309Val)
15g.44669325T>CCA392241442PATL2c.1019A>G (p.Glu340Gly)
c.452A>G (p.Glu151Gly)
c.1010A>G (p.Glu337Gly)
c.797A>G (p.Glu266Gly)
c.767A>G (p.Glu256Gly)
c.758A>G (p.Glu253Gly)
c.584A>G (p.Glu195Gly)
c.1133A>G (p.Glu378Gly)
c.1124A>G (p.Glu375Gly)
c.698A>G (p.Glu233Gly)
c.926A>G (p.Glu309Gly)
15g.44669325T>GCA392241443PATL2c.1019A>C (p.Glu340Ala)
c.452A>C (p.Glu151Ala)
c.1010A>C (p.Glu337Ala)
c.797A>C (p.Glu266Ala)
c.767A>C (p.Glu256Ala)
c.758A>C (p.Glu253Ala)
c.584A>C (p.Glu195Ala)
c.1133A>C (p.Glu378Ala)
c.1124A>C (p.Glu375Ala)
c.698A>C (p.Glu233Ala)
c.926A>C (p.Glu309Ala)
15g.44669326C>ACA392241444PATL2c.1018G>T (p.Glu340Ter)
c.451G>T (p.Glu151Ter)
c.1009G>T (p.Glu337Ter)
c.796G>T (p.Glu266Ter)
c.766G>T (p.Glu256Ter)
c.757G>T (p.Glu253Ter)
c.583G>T (p.Glu195Ter)
c.1132G>T (p.Glu378Ter)
c.1123G>T (p.Glu375Ter)
c.697G>T (p.Glu233Ter)
c.925G>T (p.Glu309Ter)
15g.44669326C=CA2173726661PATL2c.1018G= (p.Glu340=)
c.451G= (p.Glu151=)
c.1009G= (p.Glu337=)
c.796G= (p.Glu266=)
c.766G= (p.Glu256=)
c.757G= (p.Glu253=)
c.583G= (p.Glu195=)
c.1132G= (p.Glu378=)
c.1123G= (p.Glu375=)
c.697G= (p.Glu233=)
c.925G= (p.Glu309=)
15g.44669326C>GCA392241446PATL2c.1018G>C (p.Glu340Gln)
c.451G>C (p.Glu151Gln)
c.1009G>C (p.Glu337Gln)
c.796G>C (p.Glu266Gln)
c.766G>C (p.Glu256Gln)
c.757G>C (p.Glu253Gln)
c.583G>C (p.Glu195Gln)
c.1132G>C (p.Glu378Gln)
c.1123G>C (p.Glu375Gln)
c.697G>C (p.Glu233Gln)
c.925G>C (p.Glu309Gln)
15g.44669326C>TCA7536086PATL2c.1018G>A (p.Glu340Lys)
c.451G>A (p.Glu151Lys)
c.1009G>A (p.Glu337Lys)
c.796G>A (p.Glu266Lys)
c.766G>A (p.Glu256Lys)
c.757G>A (p.Glu253Lys)
c.583G>A (p.Glu195Lys)
c.1132G>A (p.Glu378Lys)
c.1123G>A (p.Glu375Lys)
c.697G>A (p.Glu233Lys)
c.925G>A (p.Glu309Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.44669327A=CA2173726664PATL2c.1017T= (p.Val339=)
c.450T= (p.Val150=)
c.1008T= (p.Val336=)
c.795T= (p.Val265=)
c.765T= (p.Val255=)
c.756T= (p.Val252=)
c.582T= (p.Val194=)
c.1131T= (p.Val377=)
c.1122T= (p.Val374=)
c.696T= (p.Val232=)
c.924T= (p.Val308=)
15g.44669327A>CCA490210367PATL2c.1017T>G (p.Val339=)
c.450T>G (p.Val150=)
c.1008T>G (p.Val336=)
c.795T>G (p.Val265=)
c.765T>G (p.Val255=)
c.756T>G (p.Val252=)
c.582T>G (p.Val194=)
c.1131T>G (p.Val377=)
c.1122T>G (p.Val374=)
c.696T>G (p.Val232=)
c.924T>G (p.Val308=)
15g.44669327A>GCA490210369PATL2c.1017T>C (p.Val339=)
c.450T>C (p.Val150=)
c.1008T>C (p.Val336=)
c.795T>C (p.Val265=)
c.765T>C (p.Val255=)
c.756T>C (p.Val252=)
c.582T>C (p.Val194=)
c.1131T>C (p.Val377=)
c.1122T>C (p.Val374=)
c.696T>C (p.Val232=)
c.924T>C (p.Val308=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.44669327A>TCA490210368PATL2c.1017T>A (p.Val339=)
c.450T>A (p.Val150=)
c.1008T>A (p.Val336=)
c.795T>A (p.Val265=)
c.765T>A (p.Val255=)
c.756T>A (p.Val252=)
c.582T>A (p.Val194=)
c.1131T>A (p.Val377=)
c.1122T>A (p.Val374=)
c.696T>A (p.Val232=)
c.924T>A (p.Val308=)
15g.44669328A>CCA392241451PATL2c.1016T>G (p.Val339Gly)
c.449T>G (p.Val150Gly)
c.1007T>G (p.Val336Gly)
c.794T>G (p.Val265Gly)
c.764T>G (p.Val255Gly)
c.755T>G (p.Val252Gly)
c.581T>G (p.Val194Gly)
c.1130T>G (p.Val377Gly)
c.1121T>G (p.Val374Gly)
c.695T>G (p.Val232Gly)
c.923T>G (p.Val308Gly)
15g.44669328A>GCA392241450PATL2c.1016T>C (p.Val339Ala)
c.449T>C (p.Val150Ala)
c.1007T>C (p.Val336Ala)
c.794T>C (p.Val265Ala)
c.764T>C (p.Val255Ala)
c.755T>C (p.Val252Ala)
c.581T>C (p.Val194Ala)
c.1130T>C (p.Val377Ala)
c.1121T>C (p.Val374Ala)
c.695T>C (p.Val232Ala)
c.923T>C (p.Val308Ala)
15g.44669328A>TCA392241449PATL2c.1016T>A (p.Val339Asp)
c.449T>A (p.Val150Asp)
c.1007T>A (p.Val336Asp)
c.794T>A (p.Val265Asp)
c.764T>A (p.Val255Asp)
c.755T>A (p.Val252Asp)
c.581T>A (p.Val194Asp)
c.1130T>A (p.Val377Asp)
c.1121T>A (p.Val374Asp)
c.695T>A (p.Val232Asp)
c.923T>A (p.Val308Asp)
 gnomAD v4
15g.44669329C>ACA392241452PATL2c.1015G>T (p.Val339Phe)
c.448G>T (p.Val150Phe)
c.1006G>T (p.Val336Phe)
c.793G>T (p.Val265Phe)
c.763G>T (p.Val255Phe)
c.754G>T (p.Val252Phe)
c.580G>T (p.Val194Phe)
c.1129G>T (p.Val377Phe)
c.1120G>T (p.Val374Phe)
c.694G>T (p.Val232Phe)
c.922G>T (p.Val308Phe)
15g.44669329C>GCA392241453PATL2c.1015G>C (p.Val339Leu)
c.448G>C (p.Val150Leu)
c.1006G>C (p.Val336Leu)
c.793G>C (p.Val265Leu)
c.763G>C (p.Val255Leu)
c.754G>C (p.Val252Leu)
c.580G>C (p.Val194Leu)
c.1129G>C (p.Val377Leu)
c.1120G>C (p.Val374Leu)
c.694G>C (p.Val232Leu)
c.922G>C (p.Val308Leu)
15g.44669329C>TCA392241455PATL2c.1015G>A (p.Val339Ile)
c.448G>A (p.Val150Ile)
c.1006G>A (p.Val336Ile)
c.793G>A (p.Val265Ile)
c.763G>A (p.Val255Ile)
c.754G>A (p.Val252Ile)
c.580G>A (p.Val194Ile)
c.1129G>A (p.Val377Ile)
c.1120G>A (p.Val374Ile)
c.694G>A (p.Val232Ile)
c.922G>A (p.Val308Ile)
 gnomAD v4
15g.44669330C>ACA392241457PATL2c.1014G>T (p.Gln338His)
c.447G>T (p.Gln149His)
c.1005G>T (p.Gln335His)
c.792G>T (p.Gln264His)
c.762G>T (p.Gln254His)
c.753G>T (p.Gln251His)
c.579G>T (p.Gln193His)
c.1128G>T (p.Gln376His)
c.1119G>T (p.Gln373His)
c.693G>T (p.Gln231His)
c.921G>T (p.Gln307His)
15g.44669330C>GCA392241459PATL2c.1014G>C (p.Gln338His)
c.447G>C (p.Gln149His)
c.1005G>C (p.Gln335His)
c.792G>C (p.Gln264His)
c.762G>C (p.Gln254His)
c.753G>C (p.Gln251His)
c.579G>C (p.Gln193His)
c.1128G>C (p.Gln376His)
c.1119G>C (p.Gln373His)
c.693G>C (p.Gln231His)
c.921G>C (p.Gln307His)
15g.44669330C>TCA490210370PATL2c.1014G>A (p.Gln338=)
c.447G>A (p.Gln149=)
c.1005G>A (p.Gln335=)
c.792G>A (p.Gln264=)
c.762G>A (p.Gln254=)
c.753G>A (p.Gln251=)
c.579G>A (p.Gln193=)
c.1128G>A (p.Gln376=)
c.1119G>A (p.Gln373=)
c.693G>A (p.Gln231=)
c.921G>A (p.Gln307=)
 gnomAD v4
15g.44669331T>ACA392241460PATL2c.1013A>T (p.Gln338Leu)
c.446A>T (p.Gln149Leu)
c.1004A>T (p.Gln335Leu)
c.791A>T (p.Gln264Leu)
c.761A>T (p.Gln254Leu)
c.752A>T (p.Gln251Leu)
c.578A>T (p.Gln193Leu)
c.1127A>T (p.Gln376Leu)
c.1118A>T (p.Gln373Leu)
c.692A>T (p.Gln231Leu)
c.920A>T (p.Gln307Leu)
15g.44669331T>CCA392241461PATL2c.1013A>G (p.Gln338Arg)
c.446A>G (p.Gln149Arg)
c.1004A>G (p.Gln335Arg)
c.791A>G (p.Gln264Arg)
c.761A>G (p.Gln254Arg)
c.752A>G (p.Gln251Arg)
c.578A>G (p.Gln193Arg)
c.1127A>G (p.Gln376Arg)
c.1118A>G (p.Gln373Arg)
c.692A>G (p.Gln231Arg)
c.920A>G (p.Gln307Arg)
15g.44669331T>GCA392241462PATL2c.1013A>C (p.Gln338Pro)
c.446A>C (p.Gln149Pro)
c.1004A>C (p.Gln335Pro)
c.791A>C (p.Gln264Pro)
c.761A>C (p.Gln254Pro)
c.752A>C (p.Gln251Pro)
c.578A>C (p.Gln193Pro)
c.1127A>C (p.Gln376Pro)
c.1118A>C (p.Gln373Pro)
c.692A>C (p.Gln231Pro)
c.920A>C (p.Gln307Pro)
15g.44669332G>ACA392241464PATL2c.1012C>T (p.Gln338Ter)
c.445C>T (p.Gln149Ter)
c.1003C>T (p.Gln335Ter)
c.790C>T (p.Gln264Ter)
c.760C>T (p.Gln254Ter)
c.751C>T (p.Gln251Ter)
c.577C>T (p.Gln193Ter)
c.1126C>T (p.Gln376Ter)
c.1117C>T (p.Gln373Ter)
c.691C>T (p.Gln231Ter)
c.919C>T (p.Gln307Ter)
 gnomAD v4
15g.44669332G>CCA392241466PATL2c.1012C>G (p.Gln338Glu)
c.445C>G (p.Gln149Glu)
c.1003C>G (p.Gln335Glu)
c.790C>G (p.Gln264Glu)
c.760C>G (p.Gln254Glu)
c.751C>G (p.Gln251Glu)
c.577C>G (p.Gln193Glu)
c.1126C>G (p.Gln376Glu)
c.1117C>G (p.Gln373Glu)
c.691C>G (p.Gln231Glu)
c.919C>G (p.Gln307Glu)
15g.44669332G>TCA392241468PATL2c.1012C>A (p.Gln338Lys)
c.445C>A (p.Gln149Lys)
c.1003C>A (p.Gln335Lys)
c.790C>A (p.Gln264Lys)
c.760C>A (p.Gln254Lys)
c.751C>A (p.Gln251Lys)
c.577C>A (p.Gln193Lys)
c.1126C>A (p.Gln376Lys)
c.1117C>A (p.Gln373Lys)
c.691C>A (p.Gln231Lys)
c.919C>A (p.Gln307Lys)
15g.44669333G>ACA490210371PATL2c.1011C>T (p.Asn337=)
c.444C>T (p.Asn148=)
c.1002C>T (p.Asn334=)
c.789C>T (p.Asn263=)
c.759C>T (p.Asn253=)
c.750C>T (p.Asn250=)
c.576C>T (p.Asn192=)
c.1125C>T (p.Asn375=)
c.1116C>T (p.Asn372=)
c.690C>T (p.Asn230=)
c.918C>T (p.Asn306=)
 gnomAD v4
15g.44669333G>CCA392241470PATL2c.1011C>G (p.Asn337Lys)
c.444C>G (p.Asn148Lys)
c.1002C>G (p.Asn334Lys)
c.789C>G (p.Asn263Lys)
c.759C>G (p.Asn253Lys)
c.750C>G (p.Asn250Lys)
c.576C>G (p.Asn192Lys)
c.1125C>G (p.Asn375Lys)
c.1116C>G (p.Asn372Lys)
c.690C>G (p.Asn230Lys)
c.918C>G (p.Asn306Lys)
15g.44669333G=CA2173726667PATL2c.1011C= (p.Asn337=)
c.444C= (p.Asn148=)
c.1002C= (p.Asn334=)
c.789C= (p.Asn263=)
c.759C= (p.Asn253=)
c.750C= (p.Asn250=)
c.576C= (p.Asn192=)
c.1125C= (p.Asn375=)
c.1116C= (p.Asn372=)
c.690C= (p.Asn230=)
c.918C= (p.Asn306=)
15g.44669333G>TCA392241471PATL2c.1011C>A (p.Asn337Lys)
c.444C>A (p.Asn148Lys)
c.1002C>A (p.Asn334Lys)
c.789C>A (p.Asn263Lys)
c.759C>A (p.Asn253Lys)
c.750C>A (p.Asn250Lys)
c.576C>A (p.Asn192Lys)
c.1125C>A (p.Asn375Lys)
c.1116C>A (p.Asn372Lys)
c.690C>A (p.Asn230Lys)
c.918C>A (p.Asn306Lys)
 dbSNP gnomAD v2
15g.44669334T>ACA392241473PATL2c.1010A>T (p.Asn337Ile)
c.443A>T (p.Asn148Ile)
c.1001A>T (p.Asn334Ile)
c.788A>T (p.Asn263Ile)
c.758A>T (p.Asn253Ile)
c.749A>T (p.Asn250Ile)
c.575A>T (p.Asn192Ile)
c.1124A>T (p.Asn375Ile)
c.1115A>T (p.Asn372Ile)
c.689A>T (p.Asn230Ile)
c.917A>T (p.Asn306Ile)
15g.44669334T>CCA392241476PATL2c.1010A>G (p.Asn337Ser)
c.443A>G (p.Asn148Ser)
c.1001A>G (p.Asn334Ser)
c.788A>G (p.Asn263Ser)
c.758A>G (p.Asn253Ser)
c.749A>G (p.Asn250Ser)
c.575A>G (p.Asn192Ser)
c.1124A>G (p.Asn375Ser)
c.1115A>G (p.Asn372Ser)
c.689A>G (p.Asn230Ser)
c.917A>G (p.Asn306Ser)
15g.44669334T>GCA392241475PATL2c.1010A>C (p.Asn337Thr)
c.443A>C (p.Asn148Thr)
c.1001A>C (p.Asn334Thr)
c.788A>C (p.Asn263Thr)
c.758A>C (p.Asn253Thr)
c.749A>C (p.Asn250Thr)
c.575A>C (p.Asn192Thr)
c.1124A>C (p.Asn375Thr)
c.1115A>C (p.Asn372Thr)
c.689A>C (p.Asn230Thr)
c.917A>C (p.Asn306Thr)
15g.44669335T>ACA392241478PATL2c.1009A>T (p.Asn337Tyr)
c.442A>T (p.Asn148Tyr)
c.1000A>T (p.Asn334Tyr)
c.787A>T (p.Asn263Tyr)
c.757A>T (p.Asn253Tyr)
c.748A>T (p.Asn250Tyr)
c.574A>T (p.Asn192Tyr)
c.1123A>T (p.Asn375Tyr)
c.1114A>T (p.Asn372Tyr)
c.688A>T (p.Asn230Tyr)
c.916A>T (p.Asn306Tyr)
15g.44669335T>CCA392241479PATL2c.1009A>G (p.Asn337Asp)
c.442A>G (p.Asn148Asp)
c.1000A>G (p.Asn334Asp)
c.787A>G (p.Asn263Asp)
c.757A>G (p.Asn253Asp)
c.748A>G (p.Asn250Asp)
c.574A>G (p.Asn192Asp)
c.1123A>G (p.Asn375Asp)
c.1114A>G (p.Asn372Asp)
c.688A>G (p.Asn230Asp)
c.916A>G (p.Asn306Asp)
15g.44669335T>GCA392241480PATL2c.1009A>C (p.Asn337His)
c.442A>C (p.Asn148His)
c.1000A>C (p.Asn334His)
c.787A>C (p.Asn263His)
c.757A>C (p.Asn253His)
c.748A>C (p.Asn250His)
c.574A>C (p.Asn192His)
c.1123A>C (p.Asn375His)
c.1114A>C (p.Asn372His)
c.688A>C (p.Asn230His)
c.916A>C (p.Asn306His)
15g.44669336G>ACA490210372PATL2c.1008C>T (p.Ser336=)
c.441C>T (p.Ser147=)
c.999C>T (p.Ser333=)
c.786C>T (p.Ser262=)
c.756C>T (p.Ser252=)
c.747C>T (p.Ser249=)
c.573C>T (p.Ser191=)
c.1122C>T (p.Ser374=)
c.1113C>T (p.Ser371=)
c.687C>T (p.Ser229=)
c.915C>T (p.Ser305=)
15g.44669336G>CCA392241482PATL2c.1008C>G (p.Ser336Arg)
c.441C>G (p.Ser147Arg)
c.999C>G (p.Ser333Arg)
c.786C>G (p.Ser262Arg)
c.756C>G (p.Ser252Arg)
c.747C>G (p.Ser249Arg)
c.573C>G (p.Ser191Arg)
c.1122C>G (p.Ser374Arg)
c.1113C>G (p.Ser371Arg)
c.687C>G (p.Ser229Arg)
c.915C>G (p.Ser305Arg)
15g.44669336G>TCA392241483PATL2c.1008C>A (p.Ser336Arg)
c.441C>A (p.Ser147Arg)
c.999C>A (p.Ser333Arg)
c.786C>A (p.Ser262Arg)
c.756C>A (p.Ser252Arg)
c.747C>A (p.Ser249Arg)
c.573C>A (p.Ser191Arg)
c.1122C>A (p.Ser374Arg)
c.1113C>A (p.Ser371Arg)
c.687C>A (p.Ser229Arg)
c.915C>A (p.Ser305Arg)
15g.44669337C>ACA392241485PATL2c.1007G>T (p.Ser336Ile)
c.440G>T (p.Ser147Ile)
c.998G>T (p.Ser333Ile)
c.785G>T (p.Ser262Ile)
c.755G>T (p.Ser252Ile)
c.746G>T (p.Ser249Ile)
c.572G>T (p.Ser191Ile)
c.1121G>T (p.Ser374Ile)
c.1112G>T (p.Ser371Ile)
c.686G>T (p.Ser229Ile)
c.914G>T (p.Ser305Ile)
15g.44669337C=CA2173726669PATL2c.1007G= (p.Ser336=)
c.440G= (p.Ser147=)
c.998G= (p.Ser333=)
c.785G= (p.Ser262=)
c.755G= (p.Ser252=)
c.746G= (p.Ser249=)
c.572G= (p.Ser191=)
c.1121G= (p.Ser374=)
c.1112G= (p.Ser371=)
c.686G= (p.Ser229=)
c.914G= (p.Ser305=)
15g.44669337C>GCA392241486PATL2c.1007G>C (p.Ser336Thr)
c.440G>C (p.Ser147Thr)
c.998G>C (p.Ser333Thr)
c.785G>C (p.Ser262Thr)
c.755G>C (p.Ser252Thr)
c.746G>C (p.Ser249Thr)
c.572G>C (p.Ser191Thr)
c.1121G>C (p.Ser374Thr)
c.1112G>C (p.Ser371Thr)
c.686G>C (p.Ser229Thr)
c.914G>C (p.Ser305Thr)
15g.44669337C>TCA392241488PATL2c.1007G>A (p.Ser336Asn)
c.440G>A (p.Ser147Asn)
c.998G>A (p.Ser333Asn)
c.785G>A (p.Ser262Asn)
c.755G>A (p.Ser252Asn)
c.746G>A (p.Ser249Asn)
c.572G>A (p.Ser191Asn)
c.1121G>A (p.Ser374Asn)
c.1112G>A (p.Ser371Asn)
c.686G>A (p.Ser229Asn)
c.914G>A (p.Ser305Asn)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
15g.44669338T>ACA392241490PATL2c.1006A>T (p.Ser336Cys)
c.439A>T (p.Ser147Cys)
c.997A>T (p.Ser333Cys)
c.784A>T (p.Ser262Cys)
c.754A>T (p.Ser252Cys)
c.745A>T (p.Ser249Cys)
c.571A>T (p.Ser191Cys)
c.1120A>T (p.Ser374Cys)
c.1111A>T (p.Ser371Cys)
c.685A>T (p.Ser229Cys)
c.913A>T (p.Ser305Cys)
15g.44669338T>CCA392241491PATL2c.1006A>G (p.Ser336Gly)
c.439A>G (p.Ser147Gly)
c.997A>G (p.Ser333Gly)
c.784A>G (p.Ser262Gly)
c.754A>G (p.Ser252Gly)
c.745A>G (p.Ser249Gly)
c.571A>G (p.Ser191Gly)
c.1120A>G (p.Ser374Gly)
c.1111A>G (p.Ser371Gly)
c.685A>G (p.Ser229Gly)
c.913A>G (p.Ser305Gly)
15g.44669338T>GCA392241493PATL2c.1006A>C (p.Ser336Arg)
c.439A>C (p.Ser147Arg)
c.997A>C (p.Ser333Arg)
c.784A>C (p.Ser262Arg)
c.754A>C (p.Ser252Arg)
c.745A>C (p.Ser249Arg)
c.571A>C (p.Ser191Arg)
c.1120A>C (p.Ser374Arg)
c.1111A>C (p.Ser371Arg)
c.685A>C (p.Ser229Arg)
c.913A>C (p.Ser305Arg)
15g.44669339T>ACA392241497PATL2c.1005A>T (p.Gln335His)
c.438A>T (p.Gln146His)
c.996A>T (p.Gln332His)
c.783A>T (p.Gln261His)
c.753A>T (p.Gln251His)
c.744A>T (p.Gln248His)
c.570A>T (p.Gln190His)
c.1119A>T (p.Gln373His)
c.1110A>T (p.Gln370His)
c.684A>T (p.Gln228His)
c.912A>T (p.Gln304His)
 gnomAD v4
15g.44669339T>CCA490210373PATL2c.1005A>G (p.Gln335=)
c.438A>G (p.Gln146=)
c.996A>G (p.Gln332=)
c.783A>G (p.Gln261=)
c.753A>G (p.Gln251=)
c.744A>G (p.Gln248=)
c.570A>G (p.Gln190=)
c.1119A>G (p.Gln373=)
c.1110A>G (p.Gln370=)
c.684A>G (p.Gln228=)
c.912A>G (p.Gln304=)
15g.44669339T>GCA392241495PATL2c.1005A>C (p.Gln335His)
c.438A>C (p.Gln146His)
c.996A>C (p.Gln332His)
c.783A>C (p.Gln261His)
c.753A>C (p.Gln251His)
c.744A>C (p.Gln248His)
c.570A>C (p.Gln190His)
c.1119A>C (p.Gln373His)
c.1110A>C (p.Gln370His)
c.684A>C (p.Gln228His)
c.912A>C (p.Gln304His)
15g.44669340T>ACA392241499PATL2c.1004A>T (p.Gln335Leu)
c.437A>T (p.Gln146Leu)
c.995A>T (p.Gln332Leu)
c.782A>T (p.Gln261Leu)
c.752A>T (p.Gln251Leu)
c.743A>T (p.Gln248Leu)
c.569A>T (p.Gln190Leu)
c.1118A>T (p.Gln373Leu)
c.1109A>T (p.Gln370Leu)
c.683A>T (p.Gln228Leu)
c.911A>T (p.Gln304Leu)
15g.44669340T>CCA392241502PATL2c.1004A>G (p.Gln335Arg)
c.437A>G (p.Gln146Arg)
c.995A>G (p.Gln332Arg)
c.782A>G (p.Gln261Arg)
c.752A>G (p.Gln251Arg)
c.743A>G (p.Gln248Arg)
c.569A>G (p.Gln190Arg)
c.1118A>G (p.Gln373Arg)
c.1109A>G (p.Gln370Arg)
c.683A>G (p.Gln228Arg)
c.911A>G (p.Gln304Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.44669340T>GCA392241500PATL2c.1004A>C (p.Gln335Pro)
c.437A>C (p.Gln146Pro)
c.995A>C (p.Gln332Pro)
c.782A>C (p.Gln261Pro)
c.752A>C (p.Gln251Pro)
c.743A>C (p.Gln248Pro)
c.569A>C (p.Gln190Pro)
c.1118A>C (p.Gln373Pro)
c.1109A>C (p.Gln370Pro)
c.683A>C (p.Gln228Pro)
c.911A>C (p.Gln304Pro)
15g.44669340T=CA2173726671PATL2c.1004A= (p.Gln335=)
c.437A= (p.Gln146=)
c.995A= (p.Gln332=)
c.782A= (p.Gln261=)
c.752A= (p.Gln251=)
c.743A= (p.Gln248=)
c.569A= (p.Gln190=)
c.1118A= (p.Gln373=)
c.1109A= (p.Gln370=)
c.683A= (p.Gln228=)
c.911A= (p.Gln304=)
15g.44669341G>ACA392241503PATL2c.1003C>T (p.Gln335Ter)
c.436C>T (p.Gln146Ter)
c.994C>T (p.Gln332Ter)
c.781C>T (p.Gln261Ter)
c.751C>T (p.Gln251Ter)
c.742C>T (p.Gln248Ter)
c.568C>T (p.Gln190Ter)
c.1117C>T (p.Gln373Ter)
c.1108C>T (p.Gln370Ter)
c.682C>T (p.Gln228Ter)
c.910C>T (p.Gln304Ter)
15g.44669341G>CCA392241507PATL2c.1003C>G (p.Gln335Glu)
c.436C>G (p.Gln146Glu)
c.994C>G (p.Gln332Glu)
c.781C>G (p.Gln261Glu)
c.751C>G (p.Gln251Glu)
c.742C>G (p.Gln248Glu)
c.568C>G (p.Gln190Glu)
c.1117C>G (p.Gln373Glu)
c.1108C>G (p.Gln370Glu)
c.682C>G (p.Gln228Glu)
c.910C>G (p.Gln304Glu)
15g.44669341G>TCA392241505PATL2c.1003C>A (p.Gln335Lys)
c.436C>A (p.Gln146Lys)
c.994C>A (p.Gln332Lys)
c.781C>A (p.Gln261Lys)
c.751C>A (p.Gln251Lys)
c.742C>A (p.Gln248Lys)
c.568C>A (p.Gln190Lys)
c.1117C>A (p.Gln373Lys)
c.1108C>A (p.Gln370Lys)
c.682C>A (p.Gln228Lys)
c.910C>A (p.Gln304Lys)
15g.44669342C>ACA392241509PATL2c.1002G>T (p.Gln334His)
c.435G>T (p.Gln145His)
c.993G>T (p.Gln331His)
c.780G>T (p.Gln260His)
c.750G>T (p.Gln250His)
c.741G>T (p.Gln247His)
c.567G>T (p.Gln189His)
c.1116G>T (p.Gln372His)
c.1107G>T (p.Gln369His)
c.681G>T (p.Gln227His)
c.909G>T (p.Gln303His)
15g.44669342C>GCA392241511PATL2c.1002G>C (p.Gln334His)
c.435G>C (p.Gln145His)
c.993G>C (p.Gln331His)
c.780G>C (p.Gln260His)
c.750G>C (p.Gln250His)
c.741G>C (p.Gln247His)
c.567G>C (p.Gln189His)
c.1116G>C (p.Gln372His)
c.1107G>C (p.Gln369His)
c.681G>C (p.Gln227His)
c.909G>C (p.Gln303His)
15g.44669342C>TCA490210374PATL2c.1002G>A (p.Gln334=)
c.435G>A (p.Gln145=)
c.993G>A (p.Gln331=)
c.780G>A (p.Gln260=)
c.750G>A (p.Gln250=)
c.741G>A (p.Gln247=)
c.567G>A (p.Gln189=)
c.1116G>A (p.Gln372=)
c.1107G>A (p.Gln369=)
c.681G>A (p.Gln227=)
c.909G>A (p.Gln303=)
 dbSNP
15g.44669343T>ACA392241513PATL2c.1001A>T (p.Gln334Leu)
c.434A>T (p.Gln145Leu)
c.992A>T (p.Gln331Leu)
c.779A>T (p.Gln260Leu)
c.749A>T (p.Gln250Leu)
c.740A>T (p.Gln247Leu)
c.566A>T (p.Gln189Leu)
c.1115A>T (p.Gln372Leu)
c.1106A>T (p.Gln369Leu)
c.680A>T (p.Gln227Leu)
c.908A>T (p.Gln303Leu)
15g.44669343T>CCA392241514PATL2c.1001A>G (p.Gln334Arg)
c.434A>G (p.Gln145Arg)
c.992A>G (p.Gln331Arg)
c.779A>G (p.Gln260Arg)
c.749A>G (p.Gln250Arg)
c.740A>G (p.Gln247Arg)
c.566A>G (p.Gln189Arg)
c.1115A>G (p.Gln372Arg)
c.1106A>G (p.Gln369Arg)
c.680A>G (p.Gln227Arg)
c.908A>G (p.Gln303Arg)
15g.44669343T>GCA392241515PATL2c.1001A>C (p.Gln334Pro)
c.434A>C (p.Gln145Pro)
c.992A>C (p.Gln331Pro)
c.779A>C (p.Gln260Pro)
c.749A>C (p.Gln250Pro)
c.740A>C (p.Gln247Pro)
c.566A>C (p.Gln189Pro)
c.1115A>C (p.Gln372Pro)
c.1106A>C (p.Gln369Pro)
c.680A>C (p.Gln227Pro)
c.908A>C (p.Gln303Pro)
15g.44669344G>ACA392241518PATL2c.1000C>T (p.Gln334Ter)
c.433C>T (p.Gln145Ter)
c.991C>T (p.Gln331Ter)
c.778C>T (p.Gln260Ter)
c.748C>T (p.Gln250Ter)
c.739C>T (p.Gln247Ter)
c.565C>T (p.Gln189Ter)
c.1114C>T (p.Gln372Ter)
c.1105C>T (p.Gln369Ter)
c.679C>T (p.Gln227Ter)
c.907C>T (p.Gln303Ter)
15g.44669344G>CCA392241519PATL2c.1000C>G (p.Gln334Glu)
c.433C>G (p.Gln145Glu)
c.991C>G (p.Gln331Glu)
c.778C>G (p.Gln260Glu)
c.748C>G (p.Gln250Glu)
c.739C>G (p.Gln247Glu)
c.565C>G (p.Gln189Glu)
c.1114C>G (p.Gln372Glu)
c.1105C>G (p.Gln369Glu)
c.679C>G (p.Gln227Glu)
c.907C>G (p.Gln303Glu)
15g.44669344G>TCA392241520PATL2c.1000C>A (p.Gln334Lys)
c.433C>A (p.Gln145Lys)
c.991C>A (p.Gln331Lys)
c.778C>A (p.Gln260Lys)
c.748C>A (p.Gln250Lys)
c.739C>A (p.Gln247Lys)
c.565C>A (p.Gln189Lys)
c.1114C>A (p.Gln372Lys)
c.1105C>A (p.Gln369Lys)
c.679C>A (p.Gln227Lys)
c.907C>A (p.Gln303Lys)
 gnomAD v4
15g.44669345C>ACA392241521PATL2c.999G>T (p.Glu333Asp)
c.432G>T (p.Glu144Asp)
c.990G>T (p.Glu330Asp)
c.777G>T (p.Glu259Asp)
c.747G>T (p.Glu249Asp)
c.738G>T (p.Glu246Asp)
c.564G>T (p.Glu188Asp)
c.1113G>T (p.Glu371Asp)
c.1104G>T (p.Glu368Asp)
c.678G>T (p.Glu226Asp)
c.906G>T (p.Glu302Asp)
15g.44669345C>GCA392241522PATL2c.999G>C (p.Glu333Asp)
c.432G>C (p.Glu144Asp)
c.990G>C (p.Glu330Asp)
c.777G>C (p.Glu259Asp)
c.747G>C (p.Glu249Asp)
c.738G>C (p.Glu246Asp)
c.564G>C (p.Glu188Asp)
c.1113G>C (p.Glu371Asp)
c.1104G>C (p.Glu368Asp)
c.678G>C (p.Glu226Asp)
c.906G>C (p.Glu302Asp)
15g.44669345C>TCA490210375PATL2c.999G>A (p.Glu333=)
c.432G>A (p.Glu144=)
c.990G>A (p.Glu330=)
c.777G>A (p.Glu259=)
c.747G>A (p.Glu249=)
c.738G>A (p.Glu246=)
c.564G>A (p.Glu188=)
c.1113G>A (p.Glu371=)
c.1104G>A (p.Glu368=)
c.678G>A (p.Glu226=)
c.906G>A (p.Glu302=)
15g.44669346T>ACA392241527PATL2c.998A>T (p.Glu333Val)
c.431A>T (p.Glu144Val)
c.989A>T (p.Glu330Val)
c.776A>T (p.Glu259Val)
c.746A>T (p.Glu249Val)
c.737A>T (p.Glu246Val)
c.563A>T (p.Glu188Val)
c.1112A>T (p.Glu371Val)
c.1103A>T (p.Glu368Val)
c.677A>T (p.Glu226Val)
c.905A>T (p.Glu302Val)
15g.44669346T>CCA7536087PATL2c.998A>G (p.Glu333Gly)
c.431A>G (p.Glu144Gly)
c.989A>G (p.Glu330Gly)
c.776A>G (p.Glu259Gly)
c.746A>G (p.Glu249Gly)
c.737A>G (p.Glu246Gly)
c.563A>G (p.Glu188Gly)
c.1112A>G (p.Glu371Gly)
c.1103A>G (p.Glu368Gly)
c.677A>G (p.Glu226Gly)
c.905A>G (p.Glu302Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.44669346T>GCA392241525PATL2c.998A>C (p.Glu333Ala)
c.431A>C (p.Glu144Ala)
c.989A>C (p.Glu330Ala)
c.776A>C (p.Glu259Ala)
c.746A>C (p.Glu249Ala)
c.737A>C (p.Glu246Ala)
c.563A>C (p.Glu188Ala)
c.1112A>C (p.Glu371Ala)
c.1103A>C (p.Glu368Ala)
c.677A>C (p.Glu226Ala)
c.905A>C (p.Glu302Ala)
15g.44669346T=CA2173726675PATL2c.998A= (p.Glu333=)
c.431A= (p.Glu144=)
c.989A= (p.Glu330=)
c.776A= (p.Glu259=)
c.746A= (p.Glu249=)
c.737A= (p.Glu246=)
c.563A= (p.Glu188=)
c.1112A= (p.Glu371=)
c.1103A= (p.Glu368=)
c.677A= (p.Glu226=)
c.905A= (p.Glu302=)
15g.44669347C>ACA392241529PATL2c.997G>T (p.Glu333Ter)
c.430G>T (p.Glu144Ter)
c.988G>T (p.Glu330Ter)
c.775G>T (p.Glu259Ter)
c.745G>T (p.Glu249Ter)
c.736G>T (p.Glu246Ter)
c.562G>T (p.Glu188Ter)
c.1111G>T (p.Glu371Ter)
c.1102G>T (p.Glu368Ter)
c.676G>T (p.Glu226Ter)
c.904G>T (p.Glu302Ter)
15g.44669347C>GCA392241530PATL2c.997G>C (p.Glu333Gln)
c.430G>C (p.Glu144Gln)
c.988G>C (p.Glu330Gln)
c.775G>C (p.Glu259Gln)
c.745G>C (p.Glu249Gln)
c.736G>C (p.Glu246Gln)
c.562G>C (p.Glu188Gln)
c.1111G>C (p.Glu371Gln)
c.1102G>C (p.Glu368Gln)
c.676G>C (p.Glu226Gln)
c.904G>C (p.Glu302Gln)
 COSMIC
15g.44669347C>TCA392241532PATL2c.997G>A (p.Glu333Lys)
c.430G>A (p.Glu144Lys)
c.988G>A (p.Glu330Lys)
c.775G>A (p.Glu259Lys)
c.745G>A (p.Glu249Lys)
c.736G>A (p.Glu246Lys)
c.562G>A (p.Glu188Lys)
c.1111G>A (p.Glu371Lys)
c.1102G>A (p.Glu368Lys)
c.676G>A (p.Glu226Lys)
c.904G>A (p.Glu302Lys)
 gnomAD v4
15g.44669348A>CCA490210376PATL2c.996T>G (p.Ser332=)
c.429T>G (p.Ser143=)
c.987T>G (p.Ser329=)
c.774T>G (p.Ser258=)
c.744T>G (p.Ser248=)
c.735T>G (p.Ser245=)
c.561T>G (p.Ser187=)
c.1110T>G (p.Ser370=)
c.1101T>G (p.Ser367=)
c.675T>G (p.Ser225=)
c.903T>G (p.Ser301=)
 gnomAD v4 COSMIC
15g.44669348A>GCA490210377PATL2c.996T>C (p.Ser332=)
c.429T>C (p.Ser143=)
c.987T>C (p.Ser329=)
c.774T>C (p.Ser258=)
c.744T>C (p.Ser248=)
c.735T>C (p.Ser245=)
c.561T>C (p.Ser187=)
c.1110T>C (p.Ser370=)
c.1101T>C (p.Ser367=)
c.675T>C (p.Ser225=)
c.903T>C (p.Ser301=)
15g.44669348A>TCA490210378PATL2c.996T>A (p.Ser332=)
c.429T>A (p.Ser143=)
c.987T>A (p.Ser329=)
c.774T>A (p.Ser258=)
c.744T>A (p.Ser248=)
c.735T>A (p.Ser245=)
c.561T>A (p.Ser187=)
c.1110T>A (p.Ser370=)
c.1101T>A (p.Ser367=)
c.675T>A (p.Ser225=)
c.903T>A (p.Ser301=)
15g.44669349G>ACA392241535PATL2c.995C>T (p.Ser332Phe)
c.428C>T (p.Ser143Phe)
c.986C>T (p.Ser329Phe)
c.773C>T (p.Ser258Phe)
c.743C>T (p.Ser248Phe)
c.734C>T (p.Ser245Phe)
c.560C>T (p.Ser187Phe)
c.1109C>T (p.Ser370Phe)
c.1100C>T (p.Ser367Phe)
c.674C>T (p.Ser225Phe)
c.902C>T (p.Ser301Phe)
 dbSNP COSMIC
15g.44669349G>CCA392241536PATL2c.995C>G (p.Ser332Cys)
c.428C>G (p.Ser143Cys)
c.986C>G (p.Ser329Cys)
c.773C>G (p.Ser258Cys)
c.743C>G (p.Ser248Cys)
c.734C>G (p.Ser245Cys)
c.560C>G (p.Ser187Cys)
c.1109C>G (p.Ser370Cys)
c.1100C>G (p.Ser367Cys)
c.674C>G (p.Ser225Cys)
c.902C>G (p.Ser301Cys)
 dbSNP
15g.44669349G=CA2173726677PATL2c.995C= (p.Ser332=)
c.428C= (p.Ser143=)
c.986C= (p.Ser329=)
c.773C= (p.Ser258=)
c.743C= (p.Ser248=)
c.734C= (p.Ser245=)
c.560C= (p.Ser187=)
c.1109C= (p.Ser370=)
c.1100C= (p.Ser367=)
c.674C= (p.Ser225=)
c.902C= (p.Ser301=)
15g.44669349G>TCA392241537PATL2c.995C>A (p.Ser332Tyr)
c.428C>A (p.Ser143Tyr)
c.986C>A (p.Ser329Tyr)
c.773C>A (p.Ser258Tyr)
c.743C>A (p.Ser248Tyr)
c.734C>A (p.Ser245Tyr)
c.560C>A (p.Ser187Tyr)
c.1109C>A (p.Ser370Tyr)
c.1100C>A (p.Ser367Tyr)
c.674C>A (p.Ser225Tyr)
c.902C>A (p.Ser301Tyr)
15g.44669350A>CCA392241538PATL2c.994T>G (p.Ser332Ala)
c.427T>G (p.Ser143Ala)
c.985T>G (p.Ser329Ala)
c.772T>G (p.Ser258Ala)
c.742T>G (p.Ser248Ala)
c.733T>G (p.Ser245Ala)
c.559T>G (p.Ser187Ala)
c.1108T>G (p.Ser370Ala)
c.1099T>G (p.Ser367Ala)
c.673T>G (p.Ser225Ala)
c.901T>G (p.Ser301Ala)
15g.44669350A>GCA392241539PATL2c.994T>C (p.Ser332Pro)
c.427T>C (p.Ser143Pro)
c.985T>C (p.Ser329Pro)
c.772T>C (p.Ser258Pro)
c.742T>C (p.Ser248Pro)
c.733T>C (p.Ser245Pro)
c.559T>C (p.Ser187Pro)
c.1108T>C (p.Ser370Pro)
c.1099T>C (p.Ser367Pro)
c.673T>C (p.Ser225Pro)
c.901T>C (p.Ser301Pro)
15g.44669350A>TCA392241540PATL2c.994T>A (p.Ser332Thr)
c.427T>A (p.Ser143Thr)
c.985T>A (p.Ser329Thr)
c.772T>A (p.Ser258Thr)
c.742T>A (p.Ser248Thr)
c.733T>A (p.Ser245Thr)
c.559T>A (p.Ser187Thr)
c.1108T>A (p.Ser370Thr)
c.1099T>A (p.Ser367Thr)
c.673T>A (p.Ser225Thr)
c.901T>A (p.Ser301Thr)
15g.44669351A>CCA392241542PATL2c.993T>G (p.Phe331Leu)
c.426T>G (p.Phe142Leu)
c.984T>G (p.Phe328Leu)
c.771T>G (p.Phe257Leu)
c.741T>G (p.Phe247Leu)
c.732T>G (p.Phe244Leu)
c.558T>G (p.Phe186Leu)
c.1107T>G (p.Phe369Leu)
c.1098T>G (p.Phe366Leu)
c.672T>G (p.Phe224Leu)
c.900T>G (p.Phe300Leu)
15g.44669351A>GCA490210379PATL2c.993T>C (p.Phe331=)
c.426T>C (p.Phe142=)
c.984T>C (p.Phe328=)
c.771T>C (p.Phe257=)
c.741T>C (p.Phe247=)
c.732T>C (p.Phe244=)
c.558T>C (p.Phe186=)
c.1107T>C (p.Phe369=)
c.1098T>C (p.Phe366=)
c.672T>C (p.Phe224=)
c.900T>C (p.Phe300=)
15g.44669351A>TCA392241544PATL2c.993T>A (p.Phe331Leu)
c.426T>A (p.Phe142Leu)
c.984T>A (p.Phe328Leu)
c.771T>A (p.Phe257Leu)
c.741T>A (p.Phe247Leu)
c.732T>A (p.Phe244Leu)
c.558T>A (p.Phe186Leu)
c.1107T>A (p.Phe369Leu)
c.1098T>A (p.Phe366Leu)
c.672T>A (p.Phe224Leu)
c.900T>A (p.Phe300Leu)
15g.44669352A>CCA392241549PATL2c.992T>G (p.Phe331Cys)
c.425T>G (p.Phe142Cys)
c.983T>G (p.Phe328Cys)
c.770T>G (p.Phe257Cys)
c.740T>G (p.Phe247Cys)
c.731T>G (p.Phe244Cys)
c.557T>G (p.Phe186Cys)
c.1106T>G (p.Phe369Cys)
c.1097T>G (p.Phe366Cys)
c.671T>G (p.Phe224Cys)
c.899T>G (p.Phe300Cys)
15g.44669352A>GCA392241547PATL2c.992T>C (p.Phe331Ser)
c.425T>C (p.Phe142Ser)
c.983T>C (p.Phe328Ser)
c.770T>C (p.Phe257Ser)
c.740T>C (p.Phe247Ser)
c.731T>C (p.Phe244Ser)
c.557T>C (p.Phe186Ser)
c.1106T>C (p.Phe369Ser)
c.1097T>C (p.Phe366Ser)
c.671T>C (p.Phe224Ser)
c.899T>C (p.Phe300Ser)
15g.44669352A>TCA392241546PATL2c.992T>A (p.Phe331Tyr)
c.425T>A (p.Phe142Tyr)
c.983T>A (p.Phe328Tyr)
c.770T>A (p.Phe257Tyr)
c.740T>A (p.Phe247Tyr)
c.731T>A (p.Phe244Tyr)
c.557T>A (p.Phe186Tyr)
c.1106T>A (p.Phe369Tyr)
c.1097T>A (p.Phe366Tyr)
c.671T>A (p.Phe224Tyr)
c.899T>A (p.Phe300Tyr)
15g.44669353A>CCA392241550PATL2c.991T>G (p.Phe331Val)
c.424T>G (p.Phe142Val)
c.982T>G (p.Phe328Val)
c.769T>G (p.Phe257Val)
c.739T>G (p.Phe247Val)
c.730T>G (p.Phe244Val)
c.556T>G (p.Phe186Val)
c.1105T>G (p.Phe369Val)
c.1096T>G (p.Phe366Val)
c.670T>G (p.Phe224Val)
c.898T>G (p.Phe300Val)
15g.44669353A>GCA392241552PATL2c.991T>C (p.Phe331Leu)
c.424T>C (p.Phe142Leu)
c.982T>C (p.Phe328Leu)
c.769T>C (p.Phe257Leu)
c.739T>C (p.Phe247Leu)
c.730T>C (p.Phe244Leu)
c.556T>C (p.Phe186Leu)
c.1105T>C (p.Phe369Leu)
c.1096T>C (p.Phe366Leu)
c.670T>C (p.Phe224Leu)
c.898T>C (p.Phe300Leu)
15g.44669353A>TCA392241554PATL2c.991T>A (p.Phe331Ile)
c.424T>A (p.Phe142Ile)
c.982T>A (p.Phe328Ile)
c.769T>A (p.Phe257Ile)
c.739T>A (p.Phe247Ile)
c.730T>A (p.Phe244Ile)
c.556T>A (p.Phe186Ile)
c.1105T>A (p.Phe369Ile)
c.1096T>A (p.Phe366Ile)
c.670T>A (p.Phe224Ile)
c.898T>A (p.Phe300Ile)
15g.44669354G>ACA490210380PATL2c.990C>T (p.Cys330=)
c.423C>T (p.Cys141=)
c.981C>T (p.Cys327=)
c.768C>T (p.Cys256=)
c.738C>T (p.Cys246=)
c.729C>T (p.Cys243=)
c.555C>T (p.Cys185=)
c.1104C>T (p.Cys368=)
c.1095C>T (p.Cys365=)
c.669C>T (p.Cys223=)
c.897C>T (p.Cys299=)
15g.44669354G>CCA392241557PATL2c.990C>G (p.Cys330Trp)
c.423C>G (p.Cys141Trp)
c.981C>G (p.Cys327Trp)
c.768C>G (p.Cys256Trp)
c.738C>G (p.Cys246Trp)
c.729C>G (p.Cys243Trp)
c.555C>G (p.Cys185Trp)
c.1104C>G (p.Cys368Trp)
c.1095C>G (p.Cys365Trp)
c.669C>G (p.Cys223Trp)
c.897C>G (p.Cys299Trp)
15g.44669354G>TCA392241558PATL2c.990C>A (p.Cys330Ter)
c.423C>A (p.Cys141Ter)
c.981C>A (p.Cys327Ter)
c.768C>A (p.Cys256Ter)
c.738C>A (p.Cys246Ter)
c.729C>A (p.Cys243Ter)
c.555C>A (p.Cys185Ter)
c.1104C>A (p.Cys368Ter)
c.1095C>A (p.Cys365Ter)
c.669C>A (p.Cys223Ter)
c.897C>A (p.Cys299Ter)
15g.44669355C>ACA392241561PATL2c.989G>T (p.Cys330Phe)
c.422G>T (p.Cys141Phe)
c.980G>T (p.Cys327Phe)
c.767G>T (p.Cys256Phe)
c.737G>T (p.Cys246Phe)
c.728G>T (p.Cys243Phe)
c.554G>T (p.Cys185Phe)
c.1103G>T (p.Cys368Phe)
c.1094G>T (p.Cys365Phe)
c.668G>T (p.Cys223Phe)
c.896G>T (p.Cys299Phe)
15g.44669355C>GCA392241563PATL2c.989G>C (p.Cys330Ser)
c.422G>C (p.Cys141Ser)
c.980G>C (p.Cys327Ser)
c.767G>C (p.Cys256Ser)
c.737G>C (p.Cys246Ser)
c.728G>C (p.Cys243Ser)
c.554G>C (p.Cys185Ser)
c.1103G>C (p.Cys368Ser)
c.1094G>C (p.Cys365Ser)
c.668G>C (p.Cys223Ser)
c.896G>C (p.Cys299Ser)
15g.44669355C>TCA392241565PATL2c.989G>A (p.Cys330Tyr)
c.422G>A (p.Cys141Tyr)
c.980G>A (p.Cys327Tyr)
c.767G>A (p.Cys256Tyr)
c.737G>A (p.Cys246Tyr)
c.728G>A (p.Cys243Tyr)
c.554G>A (p.Cys185Tyr)
c.1103G>A (p.Cys368Tyr)
c.1094G>A (p.Cys365Tyr)
c.668G>A (p.Cys223Tyr)
c.896G>A (p.Cys299Tyr)
15g.44669356A>CCA392241567PATL2c.988T>G (p.Cys330Gly)
c.421T>G (p.Cys141Gly)
c.979T>G (p.Cys327Gly)
c.766T>G (p.Cys256Gly)
c.736T>G (p.Cys246Gly)
c.727T>G (p.Cys243Gly)
c.553T>G (p.Cys185Gly)
c.1102T>G (p.Cys368Gly)
c.1093T>G (p.Cys365Gly)
c.667T>G (p.Cys223Gly)
c.895T>G (p.Cys299Gly)
15g.44669356A>GCA392241569PATL2c.988T>C (p.Cys330Arg)
c.421T>C (p.Cys141Arg)
c.979T>C (p.Cys327Arg)
c.766T>C (p.Cys256Arg)
c.736T>C (p.Cys246Arg)
c.727T>C (p.Cys243Arg)
c.553T>C (p.Cys185Arg)
c.1102T>C (p.Cys368Arg)
c.1093T>C (p.Cys365Arg)
c.667T>C (p.Cys223Arg)
c.895T>C (p.Cys299Arg)
15g.44669356A>TCA392241571PATL2c.988T>A (p.Cys330Ser)
c.421T>A (p.Cys141Ser)
c.979T>A (p.Cys327Ser)
c.766T>A (p.Cys256Ser)
c.736T>A (p.Cys246Ser)
c.727T>A (p.Cys243Ser)
c.553T>A (p.Cys185Ser)
c.1102T>A (p.Cys368Ser)
c.1093T>A (p.Cys365Ser)
c.667T>A (p.Cys223Ser)
c.895T>A (p.Cys299Ser)
15g.44669357G>ACA490210383PATL2c.987C>T (p.Pro329=)
c.420C>T (p.Pro140=)
c.978C>T (p.Pro326=)
c.765C>T (p.Pro255=)
c.735C>T (p.Pro245=)
c.726C>T (p.Pro242=)
c.552C>T (p.Pro184=)
c.1101C>T (p.Pro367=)
c.1092C>T (p.Pro364=)
c.666C>T (p.Pro222=)
c.894C>T (p.Pro298=)
 dbSNP gnomAD v2
15g.44669357G>CCA490210382PATL2c.987C>G (p.Pro329=)
c.420C>G (p.Pro140=)
c.978C>G (p.Pro326=)
c.765C>G (p.Pro255=)
c.735C>G (p.Pro245=)
c.726C>G (p.Pro242=)
c.552C>G (p.Pro184=)
c.1101C>G (p.Pro367=)
c.1092C>G (p.Pro364=)
c.666C>G (p.Pro222=)
c.894C>G (p.Pro298=)
15g.44669357G=CA2173726682PATL2c.987C= (p.Pro329=)
c.420C= (p.Pro140=)
c.978C= (p.Pro326=)
c.765C= (p.Pro255=)
c.735C= (p.Pro245=)
c.726C= (p.Pro242=)
c.552C= (p.Pro184=)
c.1101C= (p.Pro367=)
c.1092C= (p.Pro364=)
c.666C= (p.Pro222=)
c.894C= (p.Pro298=)
15g.44669357G>TCA490210381PATL2c.987C>A (p.Pro329=)
c.420C>A (p.Pro140=)
c.978C>A (p.Pro326=)
c.765C>A (p.Pro255=)
c.735C>A (p.Pro245=)
c.726C>A (p.Pro242=)
c.552C>A (p.Pro184=)
c.1101C>A (p.Pro367=)
c.1092C>A (p.Pro364=)
c.666C>A (p.Pro222=)
c.894C>A (p.Pro298=)
 COSMIC
15g.44669358G>ACA392241577PATL2c.986C>T (p.Pro329Leu)
c.419C>T (p.Pro140Leu)
c.977C>T (p.Pro326Leu)
c.764C>T (p.Pro255Leu)
c.734C>T (p.Pro245Leu)
c.725C>T (p.Pro242Leu)
c.551C>T (p.Pro184Leu)
c.1100C>T (p.Pro367Leu)
c.1091C>T (p.Pro364Leu)
c.665C>T (p.Pro222Leu)
c.893C>T (p.Pro298Leu)
15g.44669358G>CCA392241575PATL2c.986C>G (p.Pro329Arg)
c.419C>G (p.Pro140Arg)
c.977C>G (p.Pro326Arg)
c.764C>G (p.Pro255Arg)
c.734C>G (p.Pro245Arg)
c.725C>G (p.Pro242Arg)
c.551C>G (p.Pro184Arg)
c.1100C>G (p.Pro367Arg)
c.1091C>G (p.Pro364Arg)
c.665C>G (p.Pro222Arg)
c.893C>G (p.Pro298Arg)
15g.44669358G>TCA392241573PATL2c.986C>A (p.Pro329His)
c.419C>A (p.Pro140His)
c.977C>A (p.Pro326His)
c.764C>A (p.Pro255His)
c.734C>A (p.Pro245His)
c.725C>A (p.Pro242His)
c.551C>A (p.Pro184His)
c.1100C>A (p.Pro367His)
c.1091C>A (p.Pro364His)
c.665C>A (p.Pro222His)
c.893C>A (p.Pro298His)
15g.44669359G>ACA392241579PATL2c.985C>T (p.Pro329Ser)
c.418C>T (p.Pro140Ser)
c.976C>T (p.Pro326Ser)
c.763C>T (p.Pro255Ser)
c.733C>T (p.Pro245Ser)
c.724C>T (p.Pro242Ser)
c.550C>T (p.Pro184Ser)
c.1099C>T (p.Pro367Ser)
c.1090C>T (p.Pro364Ser)
c.664C>T (p.Pro222Ser)
c.892C>T (p.Pro298Ser)
15g.44669359G>CCA392241580PATL2c.985C>G (p.Pro329Ala)
c.418C>G (p.Pro140Ala)
c.976C>G (p.Pro326Ala)
c.763C>G (p.Pro255Ala)
c.733C>G (p.Pro245Ala)
c.724C>G (p.Pro242Ala)
c.550C>G (p.Pro184Ala)
c.1099C>G (p.Pro367Ala)
c.1090C>G (p.Pro364Ala)
c.664C>G (p.Pro222Ala)
c.892C>G (p.Pro298Ala)
15g.44669359G>TCA392241581PATL2c.985C>A (p.Pro329Thr)
c.418C>A (p.Pro140Thr)
c.976C>A (p.Pro326Thr)
c.763C>A (p.Pro255Thr)
c.733C>A (p.Pro245Thr)
c.724C>A (p.Pro242Thr)
c.550C>A (p.Pro184Thr)
c.1099C>A (p.Pro367Thr)
c.1090C>A (p.Pro364Thr)
c.664C>A (p.Pro222Thr)
c.892C>A (p.Pro298Thr)
15g.44669360C>ACA490210384PATL2c.984G>T (p.Pro328=)
c.417G>T (p.Pro139=)
c.975G>T (p.Pro325=)
c.762G>T (p.Pro254=)
c.732G>T (p.Pro244=)
c.723G>T (p.Pro241=)
c.549G>T (p.Pro183=)
c.1098G>T (p.Pro366=)
c.1089G>T (p.Pro363=)
c.663G>T (p.Pro221=)
c.891G>T (p.Pro297=)
15g.44669360C=CA2173726685PATL2c.984G= (p.Pro328=)
c.417G= (p.Pro139=)
c.975G= (p.Pro325=)
c.762G= (p.Pro254=)
c.732G= (p.Pro244=)
c.723G= (p.Pro241=)
c.549G= (p.Pro183=)
c.1098G= (p.Pro366=)
c.1089G= (p.Pro363=)
c.663G= (p.Pro221=)
c.891G= (p.Pro297=)
15g.44669360C>GCA490210385PATL2c.984G>C (p.Pro328=)
c.417G>C (p.Pro139=)
c.975G>C (p.Pro325=)
c.762G>C (p.Pro254=)
c.732G>C (p.Pro244=)
c.723G>C (p.Pro241=)
c.549G>C (p.Pro183=)
c.1098G>C (p.Pro366=)
c.1089G>C (p.Pro363=)
c.663G>C (p.Pro221=)
c.891G>C (p.Pro297=)
15g.44669360C>TCA270118864PATL2c.984G>A (p.Pro328=)
c.417G>A (p.Pro139=)
c.975G>A (p.Pro325=)
c.762G>A (p.Pro254=)
c.732G>A (p.Pro244=)
c.723G>A (p.Pro241=)
c.549G>A (p.Pro183=)
c.1098G>A (p.Pro366=)
c.1089G>A (p.Pro363=)
c.663G>A (p.Pro221=)
c.891G>A (p.Pro297=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.44669361G>ACA270118868PATL2c.983C>T (p.Pro328Leu)
c.416C>T (p.Pro139Leu)
c.974C>T (p.Pro325Leu)
c.761C>T (p.Pro254Leu)
c.731C>T (p.Pro244Leu)
c.722C>T (p.Pro241Leu)
c.548C>T (p.Pro183Leu)
c.1097C>T (p.Pro366Leu)
c.1088C>T (p.Pro363Leu)
c.662C>T (p.Pro221Leu)
c.890C>T (p.Pro297Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.44669361G>CCA392241584PATL2c.983C>G (p.Pro328Arg)
c.416C>G (p.Pro139Arg)
c.974C>G (p.Pro325Arg)
c.761C>G (p.Pro254Arg)
c.731C>G (p.Pro244Arg)
c.722C>G (p.Pro241Arg)
c.548C>G (p.Pro183Arg)
c.1097C>G (p.Pro366Arg)
c.1088C>G (p.Pro363Arg)
c.662C>G (p.Pro221Arg)
c.890C>G (p.Pro297Arg)
15g.44669361G=CA2173726688PATL2c.983C= (p.Pro328=)
c.416C= (p.Pro139=)
c.974C= (p.Pro325=)
c.761C= (p.Pro254=)
c.731C= (p.Pro244=)
c.722C= (p.Pro241=)
c.548C= (p.Pro183=)
c.1097C= (p.Pro366=)
c.1088C= (p.Pro363=)
c.662C= (p.Pro221=)
c.890C= (p.Pro297=)
15g.44669361G>TCA270118872PATL2c.983C>A (p.Pro328Gln)
c.416C>A (p.Pro139Gln)
c.974C>A (p.Pro325Gln)
c.761C>A (p.Pro254Gln)
c.731C>A (p.Pro244Gln)
c.722C>A (p.Pro241Gln)
c.548C>A (p.Pro183Gln)
c.1097C>A (p.Pro366Gln)
c.1088C>A (p.Pro363Gln)
c.662C>A (p.Pro221Gln)
c.890C>A (p.Pro297Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.44669362G>ACA392241587PATL2c.982C>T (p.Pro328Ser)
c.415C>T (p.Pro139Ser)
c.973C>T (p.Pro325Ser)
c.760C>T (p.Pro254Ser)
c.730C>T (p.Pro244Ser)
c.721C>T (p.Pro241Ser)
c.547C>T (p.Pro183Ser)
c.1096C>T (p.Pro366Ser)
c.1087C>T (p.Pro363Ser)
c.661C>T (p.Pro221Ser)
c.889C>T (p.Pro297Ser)
 gnomAD v4
15g.44669362G>CCA392241589PATL2c.982C>G (p.Pro328Ala)
c.415C>G (p.Pro139Ala)
c.973C>G (p.Pro325Ala)
c.760C>G (p.Pro254Ala)
c.730C>G (p.Pro244Ala)
c.721C>G (p.Pro241Ala)
c.547C>G (p.Pro183Ala)
c.1096C>G (p.Pro366Ala)
c.1087C>G (p.Pro363Ala)
c.661C>G (p.Pro221Ala)
c.889C>G (p.Pro297Ala)
15g.44669362G>TCA392241590PATL2c.982C>A (p.Pro328Thr)
c.415C>A (p.Pro139Thr)
c.973C>A (p.Pro325Thr)
c.760C>A (p.Pro254Thr)
c.730C>A (p.Pro244Thr)
c.721C>A (p.Pro241Thr)
c.547C>A (p.Pro183Thr)
c.1096C>A (p.Pro366Thr)
c.1087C>A (p.Pro363Thr)
c.661C>A (p.Pro221Thr)
c.889C>A (p.Pro297Thr)
 gnomAD v4
15g.44669363T>ACA490210386PATL2c.981A>T (p.Pro327=)
c.414A>T (p.Pro138=)
c.972A>T (p.Pro324=)
c.759A>T (p.Pro253=)
c.729A>T (p.Pro243=)
c.720A>T (p.Pro240=)
c.546A>T (p.Pro182=)
c.1095A>T (p.Pro365=)
c.1086A>T (p.Pro362=)
c.660A>T (p.Pro220=)
c.888A>T (p.Pro296=)
 gnomAD v4
15g.44669363T>CCA490210388PATL2c.981A>G (p.Pro327=)
c.414A>G (p.Pro138=)
c.972A>G (p.Pro324=)
c.759A>G (p.Pro253=)
c.729A>G (p.Pro243=)
c.720A>G (p.Pro240=)
c.546A>G (p.Pro182=)
c.1095A>G (p.Pro365=)
c.1086A>G (p.Pro362=)
c.660A>G (p.Pro220=)
c.888A>G (p.Pro296=)
15g.44669363T>GCA490210387PATL2c.981A>C (p.Pro327=)
c.414A>C (p.Pro138=)
c.972A>C (p.Pro324=)
c.759A>C (p.Pro253=)
c.729A>C (p.Pro243=)
c.720A>C (p.Pro240=)
c.546A>C (p.Pro182=)
c.1095A>C (p.Pro365=)
c.1086A>C (p.Pro362=)
c.660A>C (p.Pro220=)
c.888A>C (p.Pro296=)
15g.44669364G>ACA392241592PATL2c.980C>T (p.Pro327Leu)
c.413C>T (p.Pro138Leu)
c.971C>T (p.Pro324Leu)
c.758C>T (p.Pro253Leu)
c.728C>T (p.Pro243Leu)
c.719C>T (p.Pro240Leu)
c.545C>T (p.Pro182Leu)
c.1094C>T (p.Pro365Leu)
c.1085C>T (p.Pro362Leu)
c.659C>T (p.Pro220Leu)
c.887C>T (p.Pro296Leu)
15g.44669364G>CCA392241593PATL2c.980C>G (p.Pro327Arg)
c.413C>G (p.Pro138Arg)
c.971C>G (p.Pro324Arg)
c.758C>G (p.Pro253Arg)
c.728C>G (p.Pro243Arg)
c.719C>G (p.Pro240Arg)
c.545C>G (p.Pro182Arg)
c.1094C>G (p.Pro365Arg)
c.1085C>G (p.Pro362Arg)
c.659C>G (p.Pro220Arg)
c.887C>G (p.Pro296Arg)
15g.44669364G>TCA392241595PATL2c.980C>A (p.Pro327Gln)
c.413C>A (p.Pro138Gln)
c.971C>A (p.Pro324Gln)
c.758C>A (p.Pro253Gln)
c.728C>A (p.Pro243Gln)
c.719C>A (p.Pro240Gln)
c.545C>A (p.Pro182Gln)
c.1094C>A (p.Pro365Gln)
c.1085C>A (p.Pro362Gln)
c.659C>A (p.Pro220Gln)
c.887C>A (p.Pro296Gln)
15g.44669365G>ACA392241599PATL2c.979C>T (p.Pro327Ser)
c.412C>T (p.Pro138Ser)
c.970C>T (p.Pro324Ser)
c.757C>T (p.Pro253Ser)
c.727C>T (p.Pro243Ser)
c.718C>T (p.Pro240Ser)
c.544C>T (p.Pro182Ser)
c.1093C>T (p.Pro365Ser)
c.1084C>T (p.Pro362Ser)
c.658C>T (p.Pro220Ser)
c.886C>T (p.Pro296Ser)
15g.44669365G>CCA392241601PATL2c.979C>G (p.Pro327Ala)
c.412C>G (p.Pro138Ala)
c.970C>G (p.Pro324Ala)
c.757C>G (p.Pro253Ala)
c.727C>G (p.Pro243Ala)
c.718C>G (p.Pro240Ala)
c.544C>G (p.Pro182Ala)
c.1093C>G (p.Pro365Ala)
c.1084C>G (p.Pro362Ala)
c.658C>G (p.Pro220Ala)
c.886C>G (p.Pro296Ala)
15g.44669365G>TCA392241597PATL2c.979C>A (p.Pro327Thr)
c.412C>A (p.Pro138Thr)
c.970C>A (p.Pro324Thr)
c.757C>A (p.Pro253Thr)
c.727C>A (p.Pro243Thr)
c.718C>A (p.Pro240Thr)
c.544C>A (p.Pro182Thr)
c.1093C>A (p.Pro365Thr)
c.1084C>A (p.Pro362Thr)
c.658C>A (p.Pro220Thr)
c.886C>A (p.Pro296Thr)
15g.44669366A>CCA490210389PATL2c.978T>G (p.Pro326=)
c.411T>G (p.Pro137=)
c.969T>G (p.Pro323=)
c.756T>G (p.Pro252=)
c.726T>G (p.Pro242=)
c.717T>G (p.Pro239=)
c.543T>G (p.Pro181=)
c.1092T>G (p.Pro364=)
c.1083T>G (p.Pro361=)
c.657T>G (p.Pro219=)
c.885T>G (p.Pro295=)
15g.44669366A>GCA490210390PATL2c.978T>C (p.Pro326=)
c.411T>C (p.Pro137=)
c.969T>C (p.Pro323=)
c.756T>C (p.Pro252=)
c.726T>C (p.Pro242=)
c.717T>C (p.Pro239=)
c.543T>C (p.Pro181=)
c.1092T>C (p.Pro364=)
c.1083T>C (p.Pro361=)
c.657T>C (p.Pro219=)
c.885T>C (p.Pro295=)
15g.44669366A>TCA490210391PATL2c.978T>A (p.Pro326=)
c.411T>A (p.Pro137=)
c.969T>A (p.Pro323=)
c.756T>A (p.Pro252=)
c.726T>A (p.Pro242=)
c.717T>A (p.Pro239=)
c.543T>A (p.Pro181=)
c.1092T>A (p.Pro364=)
c.1083T>A (p.Pro361=)
c.657T>A (p.Pro219=)
c.885T>A (p.Pro295=)
15g.44669367G>ACA392241606PATL2c.977C>T (p.Pro326Leu)
c.410C>T (p.Pro137Leu)
c.968C>T (p.Pro323Leu)
c.755C>T (p.Pro252Leu)
c.725C>T (p.Pro242Leu)
c.716C>T (p.Pro239Leu)
c.542C>T (p.Pro181Leu)
c.1091C>T (p.Pro364Leu)
c.1082C>T (p.Pro361Leu)
c.656C>T (p.Pro219Leu)
c.884C>T (p.Pro295Leu)
 dbSNP gnomAD v4
15g.44669367G>CCA392241603PATL2c.977C>G (p.Pro326Arg)
c.410C>G (p.Pro137Arg)
c.968C>G (p.Pro323Arg)
c.755C>G (p.Pro252Arg)
c.725C>G (p.Pro242Arg)
c.716C>G (p.Pro239Arg)
c.542C>G (p.Pro181Arg)
c.1091C>G (p.Pro364Arg)
c.1082C>G (p.Pro361Arg)
c.656C>G (p.Pro219Arg)
c.884C>G (p.Pro295Arg)
15g.44669367G>TCA392241604PATL2c.977C>A (p.Pro326His)
c.410C>A (p.Pro137His)
c.968C>A (p.Pro323His)
c.755C>A (p.Pro252His)
c.725C>A (p.Pro242His)
c.716C>A (p.Pro239His)
c.542C>A (p.Pro181His)
c.1091C>A (p.Pro364His)
c.1082C>A (p.Pro361His)
c.656C>A (p.Pro219His)
c.884C>A (p.Pro295His)
15g.44669368G>ACA392241609PATL2c.976C>T (p.Pro326Ser)
c.409C>T (p.Pro137Ser)
c.967C>T (p.Pro323Ser)
c.754C>T (p.Pro252Ser)
c.724C>T (p.Pro242Ser)
c.715C>T (p.Pro239Ser)
c.541C>T (p.Pro181Ser)
c.1090C>T (p.Pro364Ser)
c.1081C>T (p.Pro361Ser)
c.655C>T (p.Pro219Ser)
c.883C>T (p.Pro295Ser)
15g.44669368G>CCA392241610PATL2c.976C>G (p.Pro326Ala)
c.409C>G (p.Pro137Ala)
c.967C>G (p.Pro323Ala)
c.754C>G (p.Pro252Ala)
c.724C>G (p.Pro242Ala)
c.715C>G (p.Pro239Ala)
c.541C>G (p.Pro181Ala)
c.1090C>G (p.Pro364Ala)
c.1081C>G (p.Pro361Ala)
c.655C>G (p.Pro219Ala)
c.883C>G (p.Pro295Ala)
15g.44669368G>TCA392241612PATL2c.976C>A (p.Pro326Thr)
c.409C>A (p.Pro137Thr)
c.967C>A (p.Pro323Thr)
c.754C>A (p.Pro252Thr)
c.724C>A (p.Pro242Thr)
c.715C>A (p.Pro239Thr)
c.541C>A (p.Pro181Thr)
c.1090C>A (p.Pro364Thr)
c.1081C>A (p.Pro361Thr)
c.655C>A (p.Pro219Thr)
c.883C>A (p.Pro295Thr)
15g.44669369C>ACA392241614PATL2c.975G>T (p.Arg325Ser)
c.408G>T (p.Arg136Ser)
c.966G>T (p.Arg322Ser)
c.753G>T (p.Arg251Ser)
c.723G>T (p.Arg241Ser)
c.714G>T (p.Arg238Ser)
c.540G>T (p.Arg180Ser)
c.1089G>T (p.Arg363Ser)
c.1080G>T (p.Arg360Ser)
c.654G>T (p.Arg218Ser)
c.882G>T (p.Arg294Ser)
15g.44669369C>GCA392241615PATL2c.975G>C (p.Arg325Ser)
c.408G>C (p.Arg136Ser)
c.966G>C (p.Arg322Ser)
c.753G>C (p.Arg251Ser)
c.723G>C (p.Arg241Ser)
c.714G>C (p.Arg238Ser)
c.540G>C (p.Arg180Ser)
c.1089G>C (p.Arg363Ser)
c.1080G>C (p.Arg360Ser)
c.654G>C (p.Arg218Ser)
c.882G>C (p.Arg294Ser)
15g.44669369C>TCA490210392PATL2c.975G>A (p.Arg325=)
c.408G>A (p.Arg136=)
c.966G>A (p.Arg322=)
c.753G>A (p.Arg251=)
c.723G>A (p.Arg241=)
c.714G>A (p.Arg238=)
c.540G>A (p.Arg180=)
c.1089G>A (p.Arg363=)
c.1080G>A (p.Arg360=)
c.654G>A (p.Arg218=)
c.882G>A (p.Arg294=)
 gnomAD v4 COSMIC
15g.44669370C>ACA392241617PATL2c.974G>T (p.Arg325Met)
c.407G>T (p.Arg136Met)
c.965G>T (p.Arg322Met)
c.752G>T (p.Arg251Met)
c.722G>T (p.Arg241Met)
c.713G>T (p.Arg238Met)
c.539G>T (p.Arg180Met)
c.1088G>T (p.Arg363Met)
c.1079G>T (p.Arg360Met)
c.653G>T (p.Arg218Met)
c.881G>T (p.Arg294Met)
15g.44669370C=CA2173726694PATL2c.974G= (p.Arg325=)
c.407G= (p.Arg136=)
c.965G= (p.Arg322=)
c.752G= (p.Arg251=)
c.722G= (p.Arg241=)
c.713G= (p.Arg238=)
c.539G= (p.Arg180=)
c.1088G= (p.Arg363=)
c.1079G= (p.Arg360=)
c.653G= (p.Arg218=)
c.881G= (p.Arg294=)
15g.44669370C>GCA392241621PATL2c.974G>C (p.Arg325Thr)
c.407G>C (p.Arg136Thr)
c.965G>C (p.Arg322Thr)
c.752G>C (p.Arg251Thr)
c.722G>C (p.Arg241Thr)
c.713G>C (p.Arg238Thr)
c.539G>C (p.Arg180Thr)
c.1088G>C (p.Arg363Thr)
c.1079G>C (p.Arg360Thr)
c.653G>C (p.Arg218Thr)
c.881G>C (p.Arg294Thr)
15g.44669370C>TCA392241618PATL2c.974G>A (p.Arg325Lys)
c.407G>A (p.Arg136Lys)
c.965G>A (p.Arg322Lys)
c.752G>A (p.Arg251Lys)
c.722G>A (p.Arg241Lys)
c.713G>A (p.Arg238Lys)
c.539G>A (p.Arg180Lys)
c.1088G>A (p.Arg363Lys)
c.1079G>A (p.Arg360Lys)
c.653G>A (p.Arg218Lys)
c.881G>A (p.Arg294Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.44669371T>ACA392241623PATL2c.973A>T (p.Arg325Trp)
c.406A>T (p.Arg136Trp)
c.964A>T (p.Arg322Trp)
c.751A>T (p.Arg251Trp)
c.721A>T (p.Arg241Trp)
c.712A>T (p.Arg238Trp)
c.538A>T (p.Arg180Trp)
c.1087A>T (p.Arg363Trp)
c.1078A>T (p.Arg360Trp)
c.652A>T (p.Arg218Trp)
c.880A>T (p.Arg294Trp)
15g.44669371T>CCA392241625PATL2c.973A>G (p.Arg325Gly)
c.406A>G (p.Arg136Gly)
c.964A>G (p.Arg322Gly)
c.751A>G (p.Arg251Gly)
c.721A>G (p.Arg241Gly)
c.712A>G (p.Arg238Gly)
c.538A>G (p.Arg180Gly)
c.1087A>G (p.Arg363Gly)
c.1078A>G (p.Arg360Gly)
c.652A>G (p.Arg218Gly)
c.880A>G (p.Arg294Gly)
15g.44669371T>GCA490210393PATL2c.973A>C (p.Arg325=)
c.406A>C (p.Arg136=)
c.964A>C (p.Arg322=)
c.751A>C (p.Arg251=)
c.721A>C (p.Arg241=)
c.712A>C (p.Arg238=)
c.538A>C (p.Arg180=)
c.1087A>C (p.Arg363=)
c.1078A>C (p.Arg360=)
c.652A>C (p.Arg218=)
c.880A>C (p.Arg294=)
15g.44669372A>CCA392241626PATL2c.972T>G (p.Tyr324Ter)
c.405T>G (p.Tyr135Ter)
c.963T>G (p.Tyr321Ter)
c.750T>G (p.Tyr250Ter)
c.720T>G (p.Tyr240Ter)
c.711T>G (p.Tyr237Ter)
c.537T>G (p.Tyr179Ter)
c.1086T>G (p.Tyr362Ter)
c.1077T>G (p.Tyr359Ter)
c.651T>G (p.Tyr217Ter)
c.879T>G (p.Tyr293Ter)
15g.44669372A>GCA490210394PATL2c.972T>C (p.Tyr324=)
c.405T>C (p.Tyr135=)
c.963T>C (p.Tyr321=)
c.750T>C (p.Tyr250=)
c.720T>C (p.Tyr240=)
c.711T>C (p.Tyr237=)
c.537T>C (p.Tyr179=)
c.1086T>C (p.Tyr362=)
c.1077T>C (p.Tyr359=)
c.651T>C (p.Tyr217=)
c.879T>C (p.Tyr293=)
 gnomAD v4
15g.44669372A>TCA392241628PATL2c.972T>A (p.Tyr324Ter)
c.405T>A (p.Tyr135Ter)
c.963T>A (p.Tyr321Ter)
c.750T>A (p.Tyr250Ter)
c.720T>A (p.Tyr240Ter)
c.711T>A (p.Tyr237Ter)
c.537T>A (p.Tyr179Ter)
c.1086T>A (p.Tyr362Ter)
c.1077T>A (p.Tyr359Ter)
c.651T>A (p.Tyr217Ter)
c.879T>A (p.Tyr293Ter)
15g.44669373T>ACA392241631PATL2c.971A>T (p.Tyr324Phe)
c.404A>T (p.Tyr135Phe)
c.962A>T (p.Tyr321Phe)
c.749A>T (p.Tyr250Phe)
c.719A>T (p.Tyr240Phe)
c.710A>T (p.Tyr237Phe)
c.536A>T (p.Tyr179Phe)
c.1085A>T (p.Tyr362Phe)
c.1076A>T (p.Tyr359Phe)
c.650A>T (p.Tyr217Phe)
c.878A>T (p.Tyr293Phe)
15g.44669373T>CCA7536088PATL2c.971A>G (p.Tyr324Cys)
c.404A>G (p.Tyr135Cys)
c.962A>G (p.Tyr321Cys)
c.749A>G (p.Tyr250Cys)
c.719A>G (p.Tyr240Cys)
c.710A>G (p.Tyr237Cys)
c.536A>G (p.Tyr179Cys)
c.1085A>G (p.Tyr362Cys)
c.1076A>G (p.Tyr359Cys)
c.650A>G (p.Tyr217Cys)
c.878A>G (p.Tyr293Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.44669373T>GCA392241633PATL2c.971A>C (p.Tyr324Ser)
c.404A>C (p.Tyr135Ser)
c.962A>C (p.Tyr321Ser)
c.749A>C (p.Tyr250Ser)
c.719A>C (p.Tyr240Ser)
c.710A>C (p.Tyr237Ser)
c.536A>C (p.Tyr179Ser)
c.1085A>C (p.Tyr362Ser)
c.1076A>C (p.Tyr359Ser)
c.650A>C (p.Tyr217Ser)
c.878A>C (p.Tyr293Ser)
15g.44669373T=CA2173726700PATL2c.971A= (p.Tyr324=)
c.404A= (p.Tyr135=)
c.962A= (p.Tyr321=)
c.749A= (p.Tyr250=)
c.719A= (p.Tyr240=)
c.710A= (p.Tyr237=)
c.536A= (p.Tyr179=)
c.1085A= (p.Tyr362=)
c.1076A= (p.Tyr359=)
c.650A= (p.Tyr217=)
c.878A= (p.Tyr293=)
15g.44669374A=CA2173726702PATL2c.970T= (p.Tyr324=)
c.403T= (p.Tyr135=)
c.961T= (p.Tyr321=)
c.748T= (p.Tyr250=)
c.718T= (p.Tyr240=)
c.709T= (p.Tyr237=)
c.535T= (p.Tyr179=)
c.1084T= (p.Tyr362=)
c.1075T= (p.Tyr359=)
c.649T= (p.Tyr217=)
c.877T= (p.Tyr293=)
15g.44669374A>CCA392241635PATL2c.970T>G (p.Tyr324Asp)
c.403T>G (p.Tyr135Asp)
c.961T>G (p.Tyr321Asp)
c.748T>G (p.Tyr250Asp)
c.718T>G (p.Tyr240Asp)
c.709T>G (p.Tyr237Asp)
c.535T>G (p.Tyr179Asp)
c.1084T>G (p.Tyr362Asp)
c.1075T>G (p.Tyr359Asp)
c.649T>G (p.Tyr217Asp)
c.877T>G (p.Tyr293Asp)
15g.44669374A>GCA392241636PATL2c.970T>C (p.Tyr324His)
c.403T>C (p.Tyr135His)
c.961T>C (p.Tyr321His)
c.748T>C (p.Tyr250His)
c.718T>C (p.Tyr240His)
c.709T>C (p.Tyr237His)
c.535T>C (p.Tyr179His)
c.1084T>C (p.Tyr362His)
c.1075T>C (p.Tyr359His)
c.649T>C (p.Tyr217His)
c.877T>C (p.Tyr293His)
 dbSNP gnomAD v2 gnomAD v4
15g.44669374A>TCA392241638PATL2c.970T>A (p.Tyr324Asn)
c.403T>A (p.Tyr135Asn)
c.961T>A (p.Tyr321Asn)
c.748T>A (p.Tyr250Asn)
c.718T>A (p.Tyr240Asn)
c.709T>A (p.Tyr237Asn)
c.535T>A (p.Tyr179Asn)
c.1084T>A (p.Tyr362Asn)
c.1075T>A (p.Tyr359Asn)
c.649T>A (p.Tyr217Asn)
c.877T>A (p.Tyr293Asn)
15g.44669375C>ACA392241641PATL2c.969G>T (p.Lys323Asn)
c.402G>T (p.Lys134Asn)
c.960G>T (p.Lys320Asn)
c.747G>T (p.Lys249Asn)
c.717G>T (p.Lys239Asn)
c.708G>T (p.Lys236Asn)
c.534G>T (p.Lys178Asn)
c.1083G>T (p.Lys361Asn)
c.1074G>T (p.Lys358Asn)
c.648G>T (p.Lys216Asn)
c.876G>T (p.Lys292Asn)
 gnomAD v4
15g.44669375C>GCA392241644PATL2c.969G>C (p.Lys323Asn)
c.402G>C (p.Lys134Asn)
c.960G>C (p.Lys320Asn)
c.747G>C (p.Lys249Asn)
c.717G>C (p.Lys239Asn)
c.708G>C (p.Lys236Asn)
c.534G>C (p.Lys178Asn)
c.1083G>C (p.Lys361Asn)
c.1074G>C (p.Lys358Asn)
c.648G>C (p.Lys216Asn)
c.876G>C (p.Lys292Asn)
15g.44669375C>TCA490210395PATL2c.969G>A (p.Lys323=)
c.402G>A (p.Lys134=)
c.960G>A (p.Lys320=)
c.747G>A (p.Lys249=)
c.717G>A (p.Lys239=)
c.708G>A (p.Lys236=)
c.534G>A (p.Lys178=)
c.1083G>A (p.Lys361=)
c.1074G>A (p.Lys358=)
c.648G>A (p.Lys216=)
c.876G>A (p.Lys292=)
15g.44669376T>ACA392241646PATL2c.968A>T (p.Lys323Met)
c.401A>T (p.Lys134Met)
c.959A>T (p.Lys320Met)
c.746A>T (p.Lys249Met)
c.716A>T (p.Lys239Met)
c.707A>T (p.Lys236Met)
c.533A>T (p.Lys178Met)
c.1082A>T (p.Lys361Met)
c.1073A>T (p.Lys358Met)
c.647A>T (p.Lys216Met)
c.875A>T (p.Lys292Met)
15g.44669376T>CCA392241647PATL2c.968A>G (p.Lys323Arg)
c.401A>G (p.Lys134Arg)
c.959A>G (p.Lys320Arg)
c.746A>G (p.Lys249Arg)
c.716A>G (p.Lys239Arg)
c.707A>G (p.Lys236Arg)
c.533A>G (p.Lys178Arg)
c.1082A>G (p.Lys361Arg)
c.1073A>G (p.Lys358Arg)
c.647A>G (p.Lys216Arg)
c.875A>G (p.Lys292Arg)
 dbSNP
15g.44669376T>GCA392241650PATL2c.968A>C (p.Lys323Thr)
c.401A>C (p.Lys134Thr)
c.959A>C (p.Lys320Thr)
c.746A>C (p.Lys249Thr)
c.716A>C (p.Lys239Thr)
c.707A>C (p.Lys236Thr)
c.533A>C (p.Lys178Thr)
c.1082A>C (p.Lys361Thr)
c.1073A>C (p.Lys358Thr)
c.647A>C (p.Lys216Thr)
c.875A>C (p.Lys292Thr)
15g.44669376T=CA2173726704PATL2c.968A= (p.Lys323=)
c.401A= (p.Lys134=)
c.959A= (p.Lys320=)
c.746A= (p.Lys249=)
c.716A= (p.Lys239=)
c.707A= (p.Lys236=)
c.533A= (p.Lys178=)
c.1082A= (p.Lys361=)
c.1073A= (p.Lys358=)
c.647A= (p.Lys216=)
c.875A= (p.Lys292=)
15g.44669377T>ACA392241653PATL2c.967A>T (p.Lys323Ter)
c.400A>T (p.Lys134Ter)
c.958A>T (p.Lys320Ter)
c.745A>T (p.Lys249Ter)
c.715A>T (p.Lys239Ter)
c.706A>T (p.Lys236Ter)
c.532A>T (p.Lys178Ter)
c.1081A>T (p.Lys361Ter)
c.1072A>T (p.Lys358Ter)
c.646A>T (p.Lys216Ter)
c.874A>T (p.Lys292Ter)
15g.44669377T>CCA392241654PATL2c.967A>G (p.Lys323Glu)
c.400A>G (p.Lys134Glu)
c.958A>G (p.Lys320Glu)
c.745A>G (p.Lys249Glu)
c.715A>G (p.Lys239Glu)
c.706A>G (p.Lys236Glu)
c.532A>G (p.Lys178Glu)
c.1081A>G (p.Lys361Glu)
c.1072A>G (p.Lys358Glu)
c.646A>G (p.Lys216Glu)
c.874A>G (p.Lys292Glu)
15g.44669377T>GCA392241655PATL2c.967A>C (p.Lys323Gln)
c.400A>C (p.Lys134Gln)
c.958A>C (p.Lys320Gln)
c.745A>C (p.Lys249Gln)
c.715A>C (p.Lys239Gln)
c.706A>C (p.Lys236Gln)
c.532A>C (p.Lys178Gln)
c.1081A>C (p.Lys361Gln)
c.1072A>C (p.Lys358Gln)
c.646A>C (p.Lys216Gln)
c.874A>C (p.Lys292Gln)
15g.44669378C>ACA392241663PATL2c.966G>T (p.Trp322Cys)
c.399G>T (p.Trp133Cys)
c.957G>T (p.Trp319Cys)
c.744G>T (p.Trp248Cys)
c.714G>T (p.Trp238Cys)
c.705G>T (p.Trp235Cys)
c.531G>T (p.Trp177Cys)
c.1080G>T (p.Trp360Cys)
c.1071G>T (p.Trp357Cys)
c.645G>T (p.Trp215Cys)
c.873G>T (p.Trp291Cys)
15g.44669378C=CA2173726708PATL2c.966G= (p.Trp322=)
c.399G= (p.Trp133=)
c.957G= (p.Trp319=)
c.744G= (p.Trp248=)
c.714G= (p.Trp238=)
c.705G= (p.Trp235=)
c.531G= (p.Trp177=)
c.1080G= (p.Trp360=)
c.1071G= (p.Trp357=)
c.645G= (p.Trp215=)
c.873G= (p.Trp291=)
15g.44669378C>GCA392241660PATL2c.966G>C (p.Trp322Cys)
c.399G>C (p.Trp133Cys)
c.957G>C (p.Trp319Cys)
c.744G>C (p.Trp248Cys)
c.714G>C (p.Trp238Cys)
c.705G>C (p.Trp235Cys)
c.531G>C (p.Trp177Cys)
c.1080G>C (p.Trp360Cys)
c.1071G>C (p.Trp357Cys)
c.645G>C (p.Trp215Cys)
c.873G>C (p.Trp291Cys)
15g.44669378C>TCA392241657PATL2c.966G>A (p.Trp322Ter)
c.399G>A (p.Trp133Ter)
c.957G>A (p.Trp319Ter)
c.744G>A (p.Trp248Ter)
c.714G>A (p.Trp238Ter)
c.705G>A (p.Trp235Ter)
c.531G>A (p.Trp177Ter)
c.1080G>A (p.Trp360Ter)
c.1071G>A (p.Trp357Ter)
c.645G>A (p.Trp215Ter)
c.873G>A (p.Trp291Ter)
15g.44669379C>ACA392241665PATL2c.965G>T (p.Trp322Leu)
c.398G>T (p.Trp133Leu)
c.956G>T (p.Trp319Leu)
c.743G>T (p.Trp248Leu)
c.713G>T (p.Trp238Leu)
c.704G>T (p.Trp235Leu)
c.530G>T (p.Trp177Leu)
c.1079G>T (p.Trp360Leu)
c.1070G>T (p.Trp357Leu)
c.644G>T (p.Trp215Leu)
c.872G>T (p.Trp291Leu)
15g.44669379C=CA2173726712PATL2c.965G= (p.Trp322=)
c.398G= (p.Trp133=)
c.956G= (p.Trp319=)
c.743G= (p.Trp248=)
c.713G= (p.Trp238=)
c.704G= (p.Trp235=)
c.530G= (p.Trp177=)
c.1079G= (p.Trp360=)
c.1070G= (p.Trp357=)
c.644G= (p.Trp215=)
c.872G= (p.Trp291=)
15g.44669379C>GCA392241667PATL2c.965G>C (p.Trp322Ser)
c.398G>C (p.Trp133Ser)
c.956G>C (p.Trp319Ser)
c.743G>C (p.Trp248Ser)
c.713G>C (p.Trp238Ser)
c.704G>C (p.Trp235Ser)
c.530G>C (p.Trp177Ser)
c.1079G>C (p.Trp360Ser)
c.1070G>C (p.Trp357Ser)
c.644G>C (p.Trp215Ser)
c.872G>C (p.Trp291Ser)
 dbSNP gnomAD v2 gnomAD v4
15g.44669379C>TCA270118876PATL2c.965G>A (p.Trp322Ter)
c.398G>A (p.Trp133Ter)
c.956G>A (p.Trp319Ter)
c.743G>A (p.Trp248Ter)
c.713G>A (p.Trp238Ter)
c.704G>A (p.Trp235Ter)
c.530G>A (p.Trp177Ter)
c.1079G>A (p.Trp360Ter)
c.1070G>A (p.Trp357Ter)
c.644G>A (p.Trp215Ter)
c.872G>A (p.Trp291Ter)
 dbSNP gnomAD v4
15g.44669379_44669380dupCA969299868PATL2c.964_965dup (p.Trp322CysfsTer26)
c.397_398dup (p.Trp133CysfsTer26)
c.955_956dup (p.Trp319CysfsTer26)
c.742_743dup (p.Trp248CysfsTer26)
c.712_713dup (p.Trp238CysfsTer26)
c.703_704dup (p.Trp235CysfsTer26)
c.529_530dup (p.Trp177CysfsTer26)
c.1078_1079dup (p.Trp360CysfsTer26)
c.1069_1070dup (p.Trp357CysfsTer26)
c.643_644dup (p.Trp215CysfsTer26)
c.871_872dup (p.Trp291CysfsTer26)
 dbSNP gnomAD v3 gnomAD v4
15g.44669380A>CCA392241670PATL2c.964T>G (p.Trp322Gly)
c.397T>G (p.Trp133Gly)
c.955T>G (p.Trp319Gly)
c.742T>G (p.Trp248Gly)
c.712T>G (p.Trp238Gly)
c.703T>G (p.Trp235Gly)
c.529T>G (p.Trp177Gly)
c.1078T>G (p.Trp360Gly)
c.1069T>G (p.Trp357Gly)
c.643T>G (p.Trp215Gly)
c.871T>G (p.Trp291Gly)
15g.44669380A>GCA392241672PATL2c.964T>C (p.Trp322Arg)
c.397T>C (p.Trp133Arg)
c.955T>C (p.Trp319Arg)
c.742T>C (p.Trp248Arg)
c.712T>C (p.Trp238Arg)
c.703T>C (p.Trp235Arg)
c.529T>C (p.Trp177Arg)
c.1078T>C (p.Trp360Arg)
c.1069T>C (p.Trp357Arg)
c.643T>C (p.Trp215Arg)
c.871T>C (p.Trp291Arg)
15g.44669380A>TCA392241674PATL2c.964T>A (p.Trp322Arg)
c.397T>A (p.Trp133Arg)
c.955T>A (p.Trp319Arg)
c.742T>A (p.Trp248Arg)
c.712T>A (p.Trp238Arg)
c.703T>A (p.Trp235Arg)
c.529T>A (p.Trp177Arg)
c.1078T>A (p.Trp360Arg)
c.1069T>A (p.Trp357Arg)
c.643T>A (p.Trp215Arg)
c.871T>A (p.Trp291Arg)
15g.44669381G>ACA490210396PATL2c.963C>T (p.Gly321=)
c.396C>T (p.Gly132=)
c.954C>T (p.Gly318=)
c.741C>T (p.Gly247=)
c.711C>T (p.Gly237=)
c.702C>T (p.Gly234=)
c.528C>T (p.Gly176=)
c.1077C>T (p.Gly359=)
c.1068C>T (p.Gly356=)
c.642C>T (p.Gly214=)
c.870C>T (p.Gly290=)
15g.44669381G>CCA490210397PATL2c.963C>G (p.Gly321=)
c.396C>G (p.Gly132=)
c.954C>G (p.Gly318=)
c.741C>G (p.Gly247=)
c.711C>G (p.Gly237=)
c.702C>G (p.Gly234=)
c.528C>G (p.Gly176=)
c.1077C>G (p.Gly359=)
c.1068C>G (p.Gly356=)
c.642C>G (p.Gly214=)
c.870C>G (p.Gly290=)
15g.44669381G>TCA490210398PATL2c.963C>A (p.Gly321=)
c.396C>A (p.Gly132=)
c.954C>A (p.Gly318=)
c.741C>A (p.Gly247=)
c.711C>A (p.Gly237=)
c.702C>A (p.Gly234=)
c.528C>A (p.Gly176=)
c.1077C>A (p.Gly359=)
c.1068C>A (p.Gly356=)
c.642C>A (p.Gly214=)
c.870C>A (p.Gly290=)
 gnomAD v4
15g.44669382C>ACA7536090PATL2c.962G>T (p.Gly321Val)
c.395G>T (p.Gly132Val)
c.953G>T (p.Gly318Val)
c.740G>T (p.Gly247Val)
c.710G>T (p.Gly237Val)
c.701G>T (p.Gly234Val)
c.527G>T (p.Gly176Val)
c.1076G>T (p.Gly359Val)
c.1067G>T (p.Gly356Val)
c.641G>T (p.Gly214Val)
c.869G>T (p.Gly290Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.44669382C=CA2173726715PATL2c.962G= (p.Gly321=)
c.395G= (p.Gly132=)
c.953G= (p.Gly318=)
c.740G= (p.Gly247=)
c.710G= (p.Gly237=)
c.701G= (p.Gly234=)
c.527G= (p.Gly176=)
c.1076G= (p.Gly359=)
c.1067G= (p.Gly356=)
c.641G= (p.Gly214=)
c.869G= (p.Gly290=)
15g.44669382C>GCA392241678PATL2c.962G>C (p.Gly321Ala)
c.395G>C (p.Gly132Ala)
c.953G>C (p.Gly318Ala)
c.740G>C (p.Gly247Ala)
c.710G>C (p.Gly237Ala)
c.701G>C (p.Gly234Ala)
c.527G>C (p.Gly176Ala)
c.1076G>C (p.Gly359Ala)
c.1067G>C (p.Gly356Ala)
c.641G>C (p.Gly214Ala)
c.869G>C (p.Gly290Ala)
 gnomAD v4
15g.44669382C>TCA7536089PATL2c.962G>A (p.Gly321Asp)
c.395G>A (p.Gly132Asp)
c.953G>A (p.Gly318Asp)
c.740G>A (p.Gly247Asp)
c.710G>A (p.Gly237Asp)
c.701G>A (p.Gly234Asp)
c.527G>A (p.Gly176Asp)
c.1076G>A (p.Gly359Asp)
c.1067G>A (p.Gly356Asp)
c.641G>A (p.Gly214Asp)
c.869G>A (p.Gly290Asp)
 dbSNP ExAC gnomAD v4
15g.44669383C>ACA392241681PATL2c.961G>T (p.Gly321Cys)
c.394G>T (p.Gly132Cys)
c.952G>T (p.Gly318Cys)
c.739G>T (p.Gly247Cys)
c.709G>T (p.Gly237Cys)
c.700G>T (p.Gly234Cys)
c.526G>T (p.Gly176Cys)
c.1075G>T (p.Gly359Cys)
c.1066G>T (p.Gly356Cys)
c.640G>T (p.Gly214Cys)
c.868G>T (p.Gly290Cys)
 gnomAD v4
15g.44669383C=CA2173726718PATL2c.961G= (p.Gly321=)
c.394G= (p.Gly132=)
c.952G= (p.Gly318=)
c.739G= (p.Gly247=)
c.709G= (p.Gly237=)
c.700G= (p.Gly234=)
c.526G= (p.Gly176=)
c.1075G= (p.Gly359=)
c.1066G= (p.Gly356=)
c.640G= (p.Gly214=)
c.868G= (p.Gly290=)
15g.44669383C>GCA392241682PATL2c.961G>C (p.Gly321Arg)
c.394G>C (p.Gly132Arg)
c.952G>C (p.Gly318Arg)
c.739G>C (p.Gly247Arg)
c.709G>C (p.Gly237Arg)
c.700G>C (p.Gly234Arg)
c.526G>C (p.Gly176Arg)
c.1075G>C (p.Gly359Arg)
c.1066G>C (p.Gly356Arg)
c.640G>C (p.Gly214Arg)
c.868G>C (p.Gly290Arg)
15g.44669383C>TCA392241684PATL2c.961G>A (p.Gly321Ser)
c.394G>A (p.Gly132Ser)
c.952G>A (p.Gly318Ser)
c.739G>A (p.Gly247Ser)
c.709G>A (p.Gly237Ser)
c.700G>A (p.Gly234Ser)
c.526G>A (p.Gly176Ser)
c.1075G>A (p.Gly359Ser)
c.1066G>A (p.Gly356Ser)
c.640G>A (p.Gly214Ser)
c.868G>A (p.Gly290Ser)
 dbSNP gnomAD v2 gnomAD v4
15g.44669384T>ACA392241688PATL2c.960A>T (p.Glu320Asp)
c.393A>T (p.Glu131Asp)
c.951A>T (p.Glu317Asp)
c.738A>T (p.Glu246Asp)
c.708A>T (p.Glu236Asp)
c.699A>T (p.Glu233Asp)
c.525A>T (p.Glu175Asp)
c.1074A>T (p.Glu358Asp)
c.1065A>T (p.Glu355Asp)
c.639A>T (p.Glu213Asp)
c.867A>T (p.Glu289Asp)
15g.44669384T>CCA490210399PATL2c.960A>G (p.Glu320=)
c.393A>G (p.Glu131=)
c.951A>G (p.Glu317=)
c.738A>G (p.Glu246=)
c.708A>G (p.Glu236=)
c.699A>G (p.Glu233=)
c.525A>G (p.Glu175=)
c.1074A>G (p.Glu358=)
c.1065A>G (p.Glu355=)
c.639A>G (p.Glu213=)
c.867A>G (p.Glu289=)
15g.44669384T>GCA392241689PATL2c.960A>C (p.Glu320Asp)
c.393A>C (p.Glu131Asp)
c.951A>C (p.Glu317Asp)
c.738A>C (p.Glu246Asp)
c.708A>C (p.Glu236Asp)
c.699A>C (p.Glu233Asp)
c.525A>C (p.Glu175Asp)
c.1074A>C (p.Glu358Asp)
c.1065A>C (p.Glu355Asp)
c.639A>C (p.Glu213Asp)
c.867A>C (p.Glu289Asp)
15g.44669385T>ACA392241692PATL2c.959A>T (p.Glu320Val)
c.392A>T (p.Glu131Val)
c.950A>T (p.Glu317Val)
c.737A>T (p.Glu246Val)
c.707A>T (p.Glu236Val)
c.698A>T (p.Glu233Val)
c.524A>T (p.Glu175Val)
c.1073A>T (p.Glu358Val)
c.1064A>T (p.Glu355Val)
c.638A>T (p.Glu213Val)
c.866A>T (p.Glu289Val)
15g.44669385T>CCA392241698PATL2c.959A>G (p.Glu320Gly)
c.392A>G (p.Glu131Gly)
c.950A>G (p.Glu317Gly)
c.737A>G (p.Glu246Gly)
c.707A>G (p.Glu236Gly)
c.698A>G (p.Glu233Gly)
c.524A>G (p.Glu175Gly)
c.1073A>G (p.Glu358Gly)
c.1064A>G (p.Glu355Gly)
c.638A>G (p.Glu213Gly)
c.866A>G (p.Glu289Gly)
15g.44669385T>GCA392241695PATL2c.959A>C (p.Glu320Ala)
c.392A>C (p.Glu131Ala)
c.950A>C (p.Glu317Ala)
c.737A>C (p.Glu246Ala)
c.707A>C (p.Glu236Ala)
c.698A>C (p.Glu233Ala)
c.524A>C (p.Glu175Ala)
c.1073A>C (p.Glu358Ala)
c.1064A>C (p.Glu355Ala)
c.638A>C (p.Glu213Ala)
c.866A>C (p.Glu289Ala)
15g.44669386C>ACA392241699PATL2c.958G>T (p.Glu320Ter)
c.391G>T (p.Glu131Ter)
c.949G>T (p.Glu317Ter)
c.736G>T (p.Glu246Ter)
c.706G>T (p.Glu236Ter)
c.697G>T (p.Glu233Ter)
c.523G>T (p.Glu175Ter)
c.1072G>T (p.Glu358Ter)
c.1063G>T (p.Glu355Ter)
c.637G>T (p.Glu213Ter)
c.865G>T (p.Glu289Ter)
15g.44669386C>GCA392241701PATL2c.958G>C (p.Glu320Gln)
c.391G>C (p.Glu131Gln)
c.949G>C (p.Glu317Gln)
c.736G>C (p.Glu246Gln)
c.706G>C (p.Glu236Gln)
c.697G>C (p.Glu233Gln)
c.523G>C (p.Glu175Gln)
c.1072G>C (p.Glu358Gln)
c.1063G>C (p.Glu355Gln)
c.637G>C (p.Glu213Gln)
c.865G>C (p.Glu289Gln)
15g.44669386C>TCA392241703PATL2c.958G>A (p.Glu320Lys)
c.391G>A (p.Glu131Lys)
c.949G>A (p.Glu317Lys)
c.736G>A (p.Glu246Lys)
c.706G>A (p.Glu236Lys)
c.697G>A (p.Glu233Lys)
c.523G>A (p.Glu175Lys)
c.1072G>A (p.Glu358Lys)
c.1063G>A (p.Glu355Lys)
c.637G>A (p.Glu213Lys)
c.865G>A (p.Glu289Lys)
15g.44669387C>ACA392241704PATL2c.957G>T (p.Glu319Asp)
c.390G>T (p.Glu130Asp)
c.948G>T (p.Glu316Asp)
c.735G>T (p.Glu245Asp)
c.705G>T (p.Glu235Asp)
c.696G>T (p.Glu232Asp)
c.522G>T (p.Glu174Asp)
c.1071G>T (p.Glu357Asp)
c.1062G>T (p.Glu354Asp)
c.636G>T (p.Glu212Asp)
c.864G>T (p.Glu288Asp)
15g.44669387C=CA2173726725PATL2c.957G= (p.Glu319=)
c.390G= (p.Glu130=)
c.948G= (p.Glu316=)
c.735G= (p.Glu245=)
c.705G= (p.Glu235=)
c.696G= (p.Glu232=)
c.522G= (p.Glu174=)
c.1071G= (p.Glu357=)
c.1062G= (p.Glu354=)
c.636G= (p.Glu212=)
c.864G= (p.Glu288=)
15g.44669387C>GCA392241706PATL2c.957G>C (p.Glu319Asp)
c.390G>C (p.Glu130Asp)
c.948G>C (p.Glu316Asp)
c.735G>C (p.Glu245Asp)
c.705G>C (p.Glu235Asp)
c.696G>C (p.Glu232Asp)
c.522G>C (p.Glu174Asp)
c.1071G>C (p.Glu357Asp)
c.1062G>C (p.Glu354Asp)
c.636G>C (p.Glu212Asp)
c.864G>C (p.Glu288Asp)
 gnomAD v4
15g.44669387C>TCA490210400PATL2c.957G>A (p.Glu319=)
c.390G>A (p.Glu130=)
c.948G>A (p.Glu316=)
c.735G>A (p.Glu245=)
c.705G>A (p.Glu235=)
c.696G>A (p.Glu232=)
c.522G>A (p.Glu174=)
c.1071G>A (p.Glu357=)
c.1062G>A (p.Glu354=)
c.636G>A (p.Glu212=)
c.864G>A (p.Glu288=)
 dbSNP gnomAD v3 gnomAD v4
15g.44669388T>ACA392241709PATL2c.956A>T (p.Glu319Val)
c.389A>T (p.Glu130Val)
c.947A>T (p.Glu316Val)
c.734A>T (p.Glu245Val)
c.704A>T (p.Glu235Val)
c.695A>T (p.Glu232Val)
c.521A>T (p.Glu174Val)
c.1070A>T (p.Glu357Val)
c.1061A>T (p.Glu354Val)
c.635A>T (p.Glu212Val)
c.863A>T (p.Glu288Val)
15g.44669388T>CCA392241710PATL2c.956A>G (p.Glu319Gly)
c.389A>G (p.Glu130Gly)
c.947A>G (p.Glu316Gly)
c.734A>G (p.Glu245Gly)
c.704A>G (p.Glu235Gly)
c.695A>G (p.Glu232Gly)
c.521A>G (p.Glu174Gly)
c.1070A>G (p.Glu357Gly)
c.1061A>G (p.Glu354Gly)
c.635A>G (p.Glu212Gly)
c.863A>G (p.Glu288Gly)
15g.44669388T>GCA392241713PATL2c.956A>C (p.Glu319Ala)
c.389A>C (p.Glu130Ala)
c.947A>C (p.Glu316Ala)
c.734A>C (p.Glu245Ala)
c.704A>C (p.Glu235Ala)
c.695A>C (p.Glu232Ala)
c.521A>C (p.Glu174Ala)
c.1070A>C (p.Glu357Ala)
c.1061A>C (p.Glu354Ala)
c.635A>C (p.Glu212Ala)
c.863A>C (p.Glu288Ala)
15g.44669389C>ACA392241714PATL2c.955G>T (p.Glu319Ter)
c.388G>T (p.Glu130Ter)
c.946G>T (p.Glu316Ter)
c.733G>T (p.Glu245Ter)
c.703G>T (p.Glu235Ter)
c.694G>T (p.Glu232Ter)
c.520G>T (p.Glu174Ter)
c.1069G>T (p.Glu357Ter)
c.1060G>T (p.Glu354Ter)
c.634G>T (p.Glu212Ter)
c.862G>T (p.Glu288Ter)
15g.44669389C>GCA392241715PATL2c.955G>C (p.Glu319Gln)
c.388G>C (p.Glu130Gln)
c.946G>C (p.Glu316Gln)
c.733G>C (p.Glu245Gln)
c.703G>C (p.Glu235Gln)
c.694G>C (p.Glu232Gln)
c.520G>C (p.Glu174Gln)
c.1069G>C (p.Glu357Gln)
c.1060G>C (p.Glu354Gln)
c.634G>C (p.Glu212Gln)
c.862G>C (p.Glu288Gln)
15g.44669389C>TCA392241716PATL2c.955G>A (p.Glu319Lys)
c.388G>A (p.Glu130Lys)
c.946G>A (p.Glu316Lys)
c.733G>A (p.Glu245Lys)
c.703G>A (p.Glu235Lys)
c.694G>A (p.Glu232Lys)
c.520G>A (p.Glu174Lys)
c.1069G>A (p.Glu357Lys)
c.1060G>A (p.Glu354Lys)
c.634G>A (p.Glu212Lys)
c.862G>A (p.Glu288Lys)
15g.44669390T>ACA490210401PATL2c.954A>T (p.Ile318=)
c.387A>T (p.Ile129=)
c.945A>T (p.Ile315=)
c.732A>T (p.Ile244=)
c.702A>T (p.Ile234=)
c.693A>T (p.Ile231=)
c.519A>T (p.Ile173=)
c.1068A>T (p.Ile356=)
c.1059A>T (p.Ile353=)
c.633A>T (p.Ile211=)
c.861A>T (p.Ile287=)
15g.44669390T>CCA392241717PATL2c.954A>G (p.Ile318Met)
c.387A>G (p.Ile129Met)
c.945A>G (p.Ile315Met)
c.732A>G (p.Ile244Met)
c.702A>G (p.Ile234Met)
c.693A>G (p.Ile231Met)
c.519A>G (p.Ile173Met)
c.1068A>G (p.Ile356Met)
c.1059A>G (p.Ile353Met)
c.633A>G (p.Ile211Met)
c.861A>G (p.Ile287Met)
 dbSNP gnomAD v2 gnomAD v4
15g.44669390T>GCA490210402PATL2c.954A>C (p.Ile318=)
c.387A>C (p.Ile129=)
c.945A>C (p.Ile315=)
c.732A>C (p.Ile244=)
c.702A>C (p.Ile234=)
c.693A>C (p.Ile231=)
c.519A>C (p.Ile173=)
c.1068A>C (p.Ile356=)
c.1059A>C (p.Ile353=)
c.633A>C (p.Ile211=)
c.861A>C (p.Ile287=)
15g.44669390T=CA2173726731PATL2c.954A= (p.Ile318=)
c.387A= (p.Ile129=)
c.945A= (p.Ile315=)
c.732A= (p.Ile244=)
c.702A= (p.Ile234=)
c.693A= (p.Ile231=)
c.519A= (p.Ile173=)
c.1068A= (p.Ile356=)
c.1059A= (p.Ile353=)
c.633A= (p.Ile211=)
c.861A= (p.Ile287=)
15g.44669391A=CA2173726736PATL2c.953T= (p.Ile318=)
c.386T= (p.Ile129=)
c.944T= (p.Ile315=)
c.731T= (p.Ile244=)
c.701T= (p.Ile234=)
c.692T= (p.Ile231=)
c.518T= (p.Ile173=)
c.1067T= (p.Ile356=)
c.1058T= (p.Ile353=)
c.632T= (p.Ile211=)
c.860T= (p.Ile287=)
15g.44669391A>CCA392241719PATL2c.953T>G (p.Ile318Arg)
c.386T>G (p.Ile129Arg)
c.944T>G (p.Ile315Arg)
c.731T>G (p.Ile244Arg)
c.701T>G (p.Ile234Arg)
c.692T>G (p.Ile231Arg)
c.518T>G (p.Ile173Arg)
c.1067T>G (p.Ile356Arg)
c.1058T>G (p.Ile353Arg)
c.632T>G (p.Ile211Arg)
c.860T>G (p.Ile287Arg)
15g.44669391A>GCA270118879PATL2c.953T>C (p.Ile318Thr)
c.386T>C (p.Ile129Thr)
c.944T>C (p.Ile315Thr)
c.731T>C (p.Ile244Thr)
c.701T>C (p.Ile234Thr)
c.692T>C (p.Ile231Thr)
c.518T>C (p.Ile173Thr)
c.1067T>C (p.Ile356Thr)
c.1058T>C (p.Ile353Thr)
c.632T>C (p.Ile211Thr)
c.860T>C (p.Ile287Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.44669391A>TCA392241718PATL2c.953T>A (p.Ile318Lys)
c.386T>A (p.Ile129Lys)
c.944T>A (p.Ile315Lys)
c.731T>A (p.Ile244Lys)
c.701T>A (p.Ile234Lys)
c.692T>A (p.Ile231Lys)
c.518T>A (p.Ile173Lys)
c.1067T>A (p.Ile356Lys)
c.1058T>A (p.Ile353Lys)
c.632T>A (p.Ile211Lys)
c.860T>A (p.Ile287Lys)
15g.44669392T>ACA392241721PATL2c.952A>T (p.Ile318Leu)
c.385A>T (p.Ile129Leu)
c.943A>T (p.Ile315Leu)
c.730A>T (p.Ile244Leu)
c.700A>T (p.Ile234Leu)
c.691A>T (p.Ile231Leu)
c.517A>T (p.Ile173Leu)
c.1066A>T (p.Ile356Leu)
c.1057A>T (p.Ile353Leu)
c.631A>T (p.Ile211Leu)
c.859A>T (p.Ile287Leu)
15g.44669392T>CCA392241720PATL2c.952A>G (p.Ile318Val)
c.385A>G (p.Ile129Val)
c.943A>G (p.Ile315Val)
c.730A>G (p.Ile244Val)
c.700A>G (p.Ile234Val)
c.691A>G (p.Ile231Val)
c.517A>G (p.Ile173Val)
c.1066A>G (p.Ile356Val)
c.1057A>G (p.Ile353Val)
c.631A>G (p.Ile211Val)
c.859A>G (p.Ile287Val)
 dbSNP gnomAD v2 gnomAD v4
15g.44669392T>GCA392241722PATL2c.952A>C (p.Ile318Leu)
c.385A>C (p.Ile129Leu)
c.943A>C (p.Ile315Leu)
c.730A>C (p.Ile244Leu)
c.700A>C (p.Ile234Leu)
c.691A>C (p.Ile231Leu)
c.517A>C (p.Ile173Leu)
c.1066A>C (p.Ile356Leu)
c.1057A>C (p.Ile353Leu)
c.631A>C (p.Ile211Leu)
c.859A>C (p.Ile287Leu)
15g.44669392T=CA2173726742PATL2c.952A= (p.Ile318=)
c.385A= (p.Ile129=)
c.943A= (p.Ile315=)
c.730A= (p.Ile244=)
c.700A= (p.Ile234=)
c.691A= (p.Ile231=)
c.517A= (p.Ile173=)
c.1066A= (p.Ile356=)
c.1057A= (p.Ile353=)
c.631A= (p.Ile211=)
c.859A= (p.Ile287=)
15g.44669393T>ACA392241723PATL2c.951A>T (p.Glu317Asp)
c.384A>T (p.Glu128Asp)
c.942A>T (p.Glu314Asp)
c.729A>T (p.Glu243Asp)
c.699A>T (p.Glu233Asp)
c.690A>T (p.Glu230Asp)
c.516A>T (p.Glu172Asp)
c.1065A>T (p.Glu355Asp)
c.1056A>T (p.Glu352Asp)
c.630A>T (p.Glu210Asp)
c.858A>T (p.Glu286Asp)
15g.44669393T>CCA490210403PATL2c.951A>G (p.Glu317=)
c.384A>G (p.Glu128=)
c.942A>G (p.Glu314=)
c.729A>G (p.Glu243=)
c.699A>G (p.Glu233=)
c.690A>G (p.Glu230=)
c.516A>G (p.Glu172=)
c.1065A>G (p.Glu355=)
c.1056A>G (p.Glu352=)
c.630A>G (p.Glu210=)
c.858A>G (p.Glu286=)
 dbSNP gnomAD v3 gnomAD v4
15g.44669393T>GCA392241724PATL2c.951A>C (p.Glu317Asp)
c.384A>C (p.Glu128Asp)
c.942A>C (p.Glu314Asp)
c.729A>C (p.Glu243Asp)
c.699A>C (p.Glu233Asp)
c.690A>C (p.Glu230Asp)
c.516A>C (p.Glu172Asp)
c.1065A>C (p.Glu355Asp)
c.1056A>C (p.Glu352Asp)
c.630A>C (p.Glu210Asp)
c.858A>C (p.Glu286Asp)
15g.44669393T=CA2173726744PATL2c.951A= (p.Glu317=)
c.384A= (p.Glu128=)
c.942A= (p.Glu314=)
c.729A= (p.Glu243=)
c.699A= (p.Glu233=)
c.690A= (p.Glu230=)
c.516A= (p.Glu172=)
c.1065A= (p.Glu355=)
c.1056A= (p.Glu352=)
c.630A= (p.Glu210=)
c.858A= (p.Glu286=)
15g.44669394T>ACA392241725PATL2c.950A>T (p.Glu317Val)
c.383A>T (p.Glu128Val)
c.941A>T (p.Glu314Val)
c.728A>T (p.Glu243Val)
c.698A>T (p.Glu233Val)
c.689A>T (p.Glu230Val)
c.515A>T (p.Glu172Val)
c.1064A>T (p.Glu355Val)
c.1055A>T (p.Glu352Val)
c.629A>T (p.Glu210Val)
c.857A>T (p.Glu286Val)
15g.44669394T>CCA392241727PATL2c.950A>G (p.Glu317Gly)
c.383A>G (p.Glu128Gly)
c.941A>G (p.Glu314Gly)
c.728A>G (p.Glu243Gly)
c.698A>G (p.Glu233Gly)
c.689A>G (p.Glu230Gly)
c.515A>G (p.Glu172Gly)
c.1064A>G (p.Glu355Gly)
c.1055A>G (p.Glu352Gly)
c.629A>G (p.Glu210Gly)
c.857A>G (p.Glu286Gly)
15g.44669394T>GCA392241728PATL2c.950A>C (p.Glu317Ala)
c.383A>C (p.Glu128Ala)
c.941A>C (p.Glu314Ala)
c.728A>C (p.Glu243Ala)
c.698A>C (p.Glu233Ala)
c.689A>C (p.Glu230Ala)
c.515A>C (p.Glu172Ala)
c.1064A>C (p.Glu355Ala)
c.1055A>C (p.Glu352Ala)
c.629A>C (p.Glu210Ala)
c.857A>C (p.Glu286Ala)
15g.44669395C>ACA392241731PATL2c.949G>T (p.Glu317Ter)
c.382G>T (p.Glu128Ter)
c.940G>T (p.Glu314Ter)
c.727G>T (p.Glu243Ter)
c.697G>T (p.Glu233Ter)
c.688G>T (p.Glu230Ter)
c.514G>T (p.Glu172Ter)
c.1063G>T (p.Glu355Ter)
c.1054G>T (p.Glu352Ter)
c.628G>T (p.Glu210Ter)
c.856G>T (p.Glu286Ter)
15g.44669395C>GCA392241732PATL2c.949G>C (p.Glu317Gln)
c.382G>C (p.Glu128Gln)
c.940G>C (p.Glu314Gln)
c.727G>C (p.Glu243Gln)
c.697G>C (p.Glu233Gln)
c.688G>C (p.Glu230Gln)
c.514G>C (p.Glu172Gln)
c.1063G>C (p.Glu355Gln)
c.1054G>C (p.Glu352Gln)
c.628G>C (p.Glu210Gln)
c.856G>C (p.Glu286Gln)
15g.44669395C>TCA392241733PATL2c.949G>A (p.Glu317Lys)
c.382G>A (p.Glu128Lys)
c.940G>A (p.Glu314Lys)
c.727G>A (p.Glu243Lys)
c.697G>A (p.Glu233Lys)
c.688G>A (p.Glu230Lys)
c.514G>A (p.Glu172Lys)
c.1063G>A (p.Glu355Lys)
c.1054G>A (p.Glu352Lys)
c.628G>A (p.Glu210Lys)
c.856G>A (p.Glu286Lys)
15g.44669396T>ACA490210404PATL2c.948A>T (p.Leu316=)
c.381A>T (p.Leu127=)
c.939A>T (p.Leu313=)
c.726A>T (p.Leu242=)
c.696A>T (p.Leu232=)
c.687A>T (p.Leu229=)
c.513A>T (p.Leu171=)
c.1062A>T (p.Leu354=)
c.1053A>T (p.Leu351=)
c.627A>T (p.Leu209=)
c.855A>T (p.Leu285=)
15g.44669396T>CCA490210405PATL2c.948A>G (p.Leu316=)
c.381A>G (p.Leu127=)
c.939A>G (p.Leu313=)
c.726A>G (p.Leu242=)
c.696A>G (p.Leu232=)
c.687A>G (p.Leu229=)
c.513A>G (p.Leu171=)
c.1062A>G (p.Leu354=)
c.1053A>G (p.Leu351=)
c.627A>G (p.Leu209=)
c.855A>G (p.Leu285=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.44669396T>GCA490210406PATL2c.948A>C (p.Leu316=)
c.381A>C (p.Leu127=)
c.939A>C (p.Leu313=)
c.726A>C (p.Leu242=)
c.696A>C (p.Leu232=)
c.687A>C (p.Leu229=)
c.513A>C (p.Leu171=)
c.1062A>C (p.Leu354=)
c.1053A>C (p.Leu351=)
c.627A>C (p.Leu209=)
c.855A>C (p.Leu285=)
15g.44669396T=CA2173726748PATL2c.948A= (p.Leu316=)
c.381A= (p.Leu127=)
c.939A= (p.Leu313=)
c.726A= (p.Leu242=)
c.696A= (p.Leu232=)
c.687A= (p.Leu229=)
c.513A= (p.Leu171=)
c.1062A= (p.Leu354=)
c.1053A= (p.Leu351=)
c.627A= (p.Leu209=)
c.855A= (p.Leu285=)
15g.44669397A=CA2173726752PATL2c.947T= (p.Leu316=)
c.380T= (p.Leu127=)
c.938T= (p.Leu313=)
c.725T= (p.Leu242=)
c.695T= (p.Leu232=)
c.686T= (p.Leu229=)
c.512T= (p.Leu171=)
c.1061T= (p.Leu354=)
c.1052T= (p.Leu351=)
c.626T= (p.Leu209=)
c.854T= (p.Leu285=)
15g.44669397A>CCA392241737PATL2c.947T>G (p.Leu316Arg)
c.380T>G (p.Leu127Arg)
c.938T>G (p.Leu313Arg)
c.725T>G (p.Leu242Arg)
c.695T>G (p.Leu232Arg)
c.686T>G (p.Leu229Arg)
c.512T>G (p.Leu171Arg)
c.1061T>G (p.Leu354Arg)
c.1052T>G (p.Leu351Arg)
c.626T>G (p.Leu209Arg)
c.854T>G (p.Leu285Arg)
15g.44669397A>GCA392241739PATL2c.947T>C (p.Leu316Pro)
c.380T>C (p.Leu127Pro)
c.938T>C (p.Leu313Pro)
c.725T>C (p.Leu242Pro)
c.695T>C (p.Leu232Pro)
c.686T>C (p.Leu229Pro)
c.512T>C (p.Leu171Pro)
c.1061T>C (p.Leu354Pro)
c.1052T>C (p.Leu351Pro)
c.626T>C (p.Leu209Pro)
c.854T>C (p.Leu285Pro)
 dbSNP gnomAD v2 gnomAD v4
15g.44669397A>TCA392241741PATL2c.947T>A (p.Leu316Gln)
c.380T>A (p.Leu127Gln)
c.938T>A (p.Leu313Gln)
c.725T>A (p.Leu242Gln)
c.695T>A (p.Leu232Gln)
c.686T>A (p.Leu229Gln)
c.512T>A (p.Leu171Gln)
c.1061T>A (p.Leu354Gln)
c.1052T>A (p.Leu351Gln)
c.626T>A (p.Leu209Gln)
c.854T>A (p.Leu285Gln)
15g.44669398G>ACA490210407PATL2c.946C>T (p.Leu316=)
c.379C>T (p.Leu127=)
c.937C>T (p.Leu313=)
c.724C>T (p.Leu242=)
c.694C>T (p.Leu232=)
c.685C>T (p.Leu229=)
c.511C>T (p.Leu171=)
c.1060C>T (p.Leu354=)
c.1051C>T (p.Leu351=)
c.625C>T (p.Leu209=)
c.853C>T (p.Leu285=)
15g.44669398G>CCA392241746PATL2c.946C>G (p.Leu316Val)
c.379C>G (p.Leu127Val)
c.937C>G (p.Leu313Val)
c.724C>G (p.Leu242Val)
c.694C>G (p.Leu232Val)
c.685C>G (p.Leu229Val)
c.511C>G (p.Leu171Val)
c.1060C>G (p.Leu354Val)
c.1051C>G (p.Leu351Val)
c.625C>G (p.Leu209Val)
c.853C>G (p.Leu285Val)
15g.44669398G>TCA392241748PATL2c.946C>A (p.Leu316Ile)
c.379C>A (p.Leu127Ile)
c.937C>A (p.Leu313Ile)
c.724C>A (p.Leu242Ile)
c.694C>A (p.Leu232Ile)
c.685C>A (p.Leu229Ile)
c.511C>A (p.Leu171Ile)
c.1060C>A (p.Leu354Ile)
c.1051C>A (p.Leu351Ile)
c.625C>A (p.Leu209Ile)
c.853C>A (p.Leu285Ile)

Number of alleles fetched