Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.44669304T>A | CA392241386 | PATL2 | c.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) | |
15 | g.44669304T>C | CA392241388 | PATL2 | c.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) | |
15 | g.44669304T>G | CA392241390 | PATL2 | c.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) | |
15 | g.44669305T>A | CA392241391 | PATL2 | c.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) | |
15 | g.44669305T>C | CA392241392 | PATL2 | c.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) | |
15 | g.44669305T>G | CA392241393 | PATL2 | c.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) | |
15 | g.44669306T>A | CA392241394 | PATL2 | c.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) | |
15 | g.44669306T>C | CA490210355 | PATL2 | c.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=) | |
15 | g.44669306T>G | CA392241395 | PATL2 | c.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) | |
15 | g.44669307A>C | CA392241396 | PATL2 | c.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 |
15 | g.44669307A>G | CA392241397 | PATL2 | c.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) | |
15 | g.44669307A>T | CA392241398 | PATL2 | c.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) | |
15 | g.44669308A>C | CA392241399 | PATL2 | c.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) | |
15 | g.44669308A>G | CA490210356 | PATL2 | c.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 |
15 | g.44669308A>T | CA392241400 | PATL2 | c.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) | |
15 | g.44669309G>A | CA490210357 | PATL2 | c.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 |
15 | g.44669309G>C | CA490210358 | PATL2 | c.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=) | |
15 | g.44669309G>T | CA490210359 | PATL2 | c.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=) | |
15 | g.44669310G>A | CA392241401 | PATL2 | c.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 |
15 | g.44669310G>C | CA392241403 | PATL2 | c.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) | |
15 | g.44669310G>T | CA392241402 | PATL2 | c.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 |
15 | g.44669311T>A | CA392241404 | PATL2 | c.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) | |
15 | g.44669311T>C | CA392241405 | PATL2 | c.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 |
15 | g.44669311T>G | CA392241406 | PATL2 | c.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) | |
15 | g.44669311T= | CA2173726647 | PATL2 | c.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=) | |
15 | g.44669312C>A | CA392241407 | PATL2 | c.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) | |
15 | g.44669312C>G | CA392241408 | PATL2 | c.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) | |
15 | g.44669312C>T | CA490210360 | PATL2 | c.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=) | |
15 | g.44669313T>A | CA392241409 | PATL2 | c.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) | |
15 | g.44669313T>C | CA392241410 | PATL2 | c.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 |
15 | g.44669313T>G | CA392241411 | PATL2 | c.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) | |
15 | g.44669314G>A | CA270118842 | PATL2 | c.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 |
15 | g.44669314G>C | CA392241412 | PATL2 | c.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) | |
15 | g.44669314G= | CA2173726650 | PATL2 | c.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=) | |
15 | g.44669314G>T | CA392241413 | PATL2 | c.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) | |
15 | g.44669315G>A | CA490210361 | PATL2 | c.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=) | |
15 | g.44669315G>C | CA392241414 | PATL2 | c.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 |
15 | g.44669315G= | CA2173726655 | PATL2 | c.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=) | |
15 | g.44669315G>T | CA392241415 | PATL2 | c.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 |
15 | g.44669316A>C | CA392241416 | PATL2 | c.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) | |
15 | g.44669316A>G | CA392241418 | PATL2 | c.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) | |
15 | g.44669316A>T | CA392241417 | PATL2 | c.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) | |
15 | g.44669317A>C | CA392241419 | PATL2 | c.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) | |
15 | g.44669317A>G | CA392241420 | PATL2 | c.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) | |
15 | g.44669317A>T | CA392241421 | PATL2 | c.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) | |
15 | g.44669318G>A | CA490210362 | PATL2 | c.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 |
15 | g.44669318G>C | CA490210363 | PATL2 | c.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=) | |
15 | g.44669318G= | CA2173726657 | PATL2 | c.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=) | |
15 | g.44669318G>T | CA490210364 | PATL2 | c.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=) | |
15 | g.44669319A>C | CA392241422 | PATL2 | c.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) | |
15 | g.44669319A>G | CA392241423 | PATL2 | c.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) | |
15 | g.44669319A>T | CA392241424 | PATL2 | c.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) | |
15 | g.44669320G>A | CA392241425 | PATL2 | c.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 |
15 | g.44669320G>C | CA392241426 | PATL2 | c.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 |
15 | g.44669320G>T | CA392241427 | PATL2 | c.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) | |
15 | g.44669321C>A | CA392241428 | PATL2 | c.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) | |
15 | g.44669321C>G | CA392241429 | PATL2 | c.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) | |
15 | g.44669321C>T | CA490210365 | PATL2 | c.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=) | |
15 | g.44669322T>A | CA392241432 | PATL2 | c.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) | |
15 | g.44669322T>C | CA392241431 | PATL2 | c.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 |
15 | g.44669322T>G | CA392241430 | PATL2 | c.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) | |
15 | g.44669323T>A | CA392241433 | PATL2 | c.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) | |
15 | g.44669323T>C | CA392241434 | PATL2 | c.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 |
15 | g.44669323T>G | CA392241436 | PATL2 | c.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) | |
15 | g.44669324C>A | CA392241438 | PATL2 | c.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) | |
15 | g.44669324C= | CA2173726659 | PATL2 | c.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=) | |
15 | g.44669324C>G | CA392241440 | PATL2 | c.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) | |
15 | g.44669324C>T | CA490210366 | PATL2 | c.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 |
15 | g.44669325T>A | CA392241441 | PATL2 | c.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) | |
15 | g.44669325T>C | CA392241442 | PATL2 | c.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) | |
15 | g.44669325T>G | CA392241443 | PATL2 | c.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) | |
15 | g.44669326C>A | CA392241444 | PATL2 | c.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) | |
15 | g.44669326C= | CA2173726661 | PATL2 | c.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=) | |
15 | g.44669326C>G | CA392241446 | PATL2 | c.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) | |
15 | g.44669326C>T | CA7536086 | PATL2 | c.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) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.44669327A= | CA2173726664 | PATL2 | c.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=) | |
15 | g.44669327A>C | CA490210367 | PATL2 | c.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=) | |
15 | g.44669327A>G | CA490210369 | PATL2 | c.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 |
15 | g.44669327A>T | CA490210368 | PATL2 | c.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=) | |
15 | g.44669328A>C | CA392241451 | PATL2 | c.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) | |
15 | g.44669328A>G | CA392241450 | PATL2 | c.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) | |
15 | g.44669328A>T | CA392241449 | PATL2 | c.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 |
15 | g.44669329C>A | CA392241452 | PATL2 | c.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) | |
15 | g.44669329C>G | CA392241453 | PATL2 | c.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) | |
15 | g.44669329C>T | CA392241455 | PATL2 | c.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 |
15 | g.44669330C>A | CA392241457 | PATL2 | c.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) | |
15 | g.44669330C>G | CA392241459 | PATL2 | c.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) | |
15 | g.44669330C>T | CA490210370 | PATL2 | c.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 |
15 | g.44669331T>A | CA392241460 | PATL2 | c.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) | |
15 | g.44669331T>C | CA392241461 | PATL2 | c.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) | |
15 | g.44669331T>G | CA392241462 | PATL2 | c.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) | |
15 | g.44669332G>A | CA392241464 | PATL2 | c.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 |
15 | g.44669332G>C | CA392241466 | PATL2 | c.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) | |
15 | g.44669332G>T | CA392241468 | PATL2 | c.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) | |
15 | g.44669333G>A | CA490210371 | PATL2 | c.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 |
15 | g.44669333G>C | CA392241470 | PATL2 | c.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) | |
15 | g.44669333G= | CA2173726667 | PATL2 | c.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=) | |
15 | g.44669333G>T | CA392241471 | PATL2 | c.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 |
15 | g.44669334T>A | CA392241473 | PATL2 | c.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) | |
15 | g.44669334T>C | CA392241476 | PATL2 | c.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) | |
15 | g.44669334T>G | CA392241475 | PATL2 | c.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) | |
15 | g.44669335T>A | CA392241478 | PATL2 | c.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) | |
15 | g.44669335T>C | CA392241479 | PATL2 | c.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) | |
15 | g.44669335T>G | CA392241480 | PATL2 | c.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) | |
15 | g.44669336G>A | CA490210372 | PATL2 | c.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=) | |
15 | g.44669336G>C | CA392241482 | PATL2 | c.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) | |
15 | g.44669336G>T | CA392241483 | PATL2 | c.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) | |
15 | g.44669337C>A | CA392241485 | PATL2 | c.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) | |
15 | g.44669337C= | CA2173726669 | PATL2 | c.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=) | |
15 | g.44669337C>G | CA392241486 | PATL2 | c.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) | |
15 | g.44669337C>T | CA392241488 | PATL2 | c.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 |
15 | g.44669338T>A | CA392241490 | PATL2 | c.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) | |
15 | g.44669338T>C | CA392241491 | PATL2 | c.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) | |
15 | g.44669338T>G | CA392241493 | PATL2 | c.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) | |
15 | g.44669339T>A | CA392241497 | PATL2 | c.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 |
15 | g.44669339T>C | CA490210373 | PATL2 | c.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=) | |
15 | g.44669339T>G | CA392241495 | PATL2 | c.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) | |
15 | g.44669340T>A | CA392241499 | PATL2 | c.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) | |
15 | g.44669340T>C | CA392241502 | PATL2 | c.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 |
15 | g.44669340T>G | CA392241500 | PATL2 | c.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) | |
15 | g.44669340T= | CA2173726671 | PATL2 | c.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=) | |
15 | g.44669341G>A | CA392241503 | PATL2 | c.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) | |
15 | g.44669341G>C | CA392241507 | PATL2 | c.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) | |
15 | g.44669341G>T | CA392241505 | PATL2 | c.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) | |
15 | g.44669342C>A | CA392241509 | PATL2 | c.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) | |
15 | g.44669342C>G | CA392241511 | PATL2 | c.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) | |
15 | g.44669342C>T | CA490210374 | PATL2 | c.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 |
15 | g.44669343T>A | CA392241513 | PATL2 | c.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) | |
15 | g.44669343T>C | CA392241514 | PATL2 | c.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) | |
15 | g.44669343T>G | CA392241515 | PATL2 | c.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) | |
15 | g.44669344G>A | CA392241518 | PATL2 | c.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) | |
15 | g.44669344G>C | CA392241519 | PATL2 | c.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) | |
15 | g.44669344G>T | CA392241520 | PATL2 | c.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 |
15 | g.44669345C>A | CA392241521 | PATL2 | c.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) | |
15 | g.44669345C>G | CA392241522 | PATL2 | c.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) | |
15 | g.44669345C>T | CA490210375 | PATL2 | c.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=) | |
15 | g.44669346T>A | CA392241527 | PATL2 | c.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) | |
15 | g.44669346T>C | CA7536087 | PATL2 | c.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 |
15 | g.44669346T>G | CA392241525 | PATL2 | c.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) | |
15 | g.44669346T= | CA2173726675 | PATL2 | c.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=) | |
15 | g.44669347C>A | CA392241529 | PATL2 | c.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) | |
15 | g.44669347C>G | CA392241530 | PATL2 | c.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 |
15 | g.44669347C>T | CA392241532 | PATL2 | c.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 |
15 | g.44669348A>C | CA490210376 | PATL2 | c.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 |
15 | g.44669348A>G | CA490210377 | PATL2 | c.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=) | |
15 | g.44669348A>T | CA490210378 | PATL2 | c.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=) | |
15 | g.44669349G>A | CA392241535 | PATL2 | c.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 |
15 | g.44669349G>C | CA392241536 | PATL2 | c.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 |
15 | g.44669349G= | CA2173726677 | PATL2 | c.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=) | |
15 | g.44669349G>T | CA392241537 | PATL2 | c.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) | |
15 | g.44669350A>C | CA392241538 | PATL2 | c.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) | |
15 | g.44669350A>G | CA392241539 | PATL2 | c.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) | |
15 | g.44669350A>T | CA392241540 | PATL2 | c.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) | |
15 | g.44669351A>C | CA392241542 | PATL2 | c.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) | |
15 | g.44669351A>G | CA490210379 | PATL2 | c.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=) | |
15 | g.44669351A>T | CA392241544 | PATL2 | c.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) | |
15 | g.44669352A>C | CA392241549 | PATL2 | c.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) | |
15 | g.44669352A>G | CA392241547 | PATL2 | c.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) | |
15 | g.44669352A>T | CA392241546 | PATL2 | c.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) | |
15 | g.44669353A>C | CA392241550 | PATL2 | c.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) | |
15 | g.44669353A>G | CA392241552 | PATL2 | c.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) | |
15 | g.44669353A>T | CA392241554 | PATL2 | c.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) | |
15 | g.44669354G>A | CA490210380 | PATL2 | c.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=) | |
15 | g.44669354G>C | CA392241557 | PATL2 | c.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) | |
15 | g.44669354G>T | CA392241558 | PATL2 | c.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) | |
15 | g.44669355C>A | CA392241561 | PATL2 | c.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) | |
15 | g.44669355C>G | CA392241563 | PATL2 | c.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) | |
15 | g.44669355C>T | CA392241565 | PATL2 | c.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) | |
15 | g.44669356A>C | CA392241567 | PATL2 | c.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) | |
15 | g.44669356A>G | CA392241569 | PATL2 | c.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) | |
15 | g.44669356A>T | CA392241571 | PATL2 | c.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) | |
15 | g.44669357G>A | CA490210383 | PATL2 | c.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 |
15 | g.44669357G>C | CA490210382 | PATL2 | c.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=) | |
15 | g.44669357G= | CA2173726682 | PATL2 | c.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=) | |
15 | g.44669357G>T | CA490210381 | PATL2 | c.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 |
15 | g.44669358G>A | CA392241577 | PATL2 | c.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) | |
15 | g.44669358G>C | CA392241575 | PATL2 | c.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) | |
15 | g.44669358G>T | CA392241573 | PATL2 | c.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) | |
15 | g.44669359G>A | CA392241579 | PATL2 | c.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) | |
15 | g.44669359G>C | CA392241580 | PATL2 | c.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) | |
15 | g.44669359G>T | CA392241581 | PATL2 | c.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) | |
15 | g.44669360C>A | CA490210384 | PATL2 | c.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=) | |
15 | g.44669360C= | CA2173726685 | PATL2 | c.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=) | |
15 | g.44669360C>G | CA490210385 | PATL2 | c.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=) | |
15 | g.44669360C>T | CA270118864 | PATL2 | c.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 |
15 | g.44669361G>A | CA270118868 | PATL2 | c.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 |
15 | g.44669361G>C | CA392241584 | PATL2 | c.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) | |
15 | g.44669361G= | CA2173726688 | PATL2 | c.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=) | |
15 | g.44669361G>T | CA270118872 | PATL2 | c.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 |
15 | g.44669362G>A | CA392241587 | PATL2 | c.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 |
15 | g.44669362G>C | CA392241589 | PATL2 | c.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) | |
15 | g.44669362G>T | CA392241590 | PATL2 | c.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 |
15 | g.44669363T>A | CA490210386 | PATL2 | c.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 |
15 | g.44669363T>C | CA490210388 | PATL2 | c.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=) | |
15 | g.44669363T>G | CA490210387 | PATL2 | c.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=) | |
15 | g.44669364G>A | CA392241592 | PATL2 | c.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) | |
15 | g.44669364G>C | CA392241593 | PATL2 | c.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) | |
15 | g.44669364G>T | CA392241595 | PATL2 | c.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) | |
15 | g.44669365G>A | CA392241599 | PATL2 | c.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) | |
15 | g.44669365G>C | CA392241601 | PATL2 | c.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) | |
15 | g.44669365G>T | CA392241597 | PATL2 | c.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) | |
15 | g.44669366A>C | CA490210389 | PATL2 | c.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=) | |
15 | g.44669366A>G | CA490210390 | PATL2 | c.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=) | |
15 | g.44669366A>T | CA490210391 | PATL2 | c.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=) | |
15 | g.44669367G>A | CA392241606 | PATL2 | c.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 |
15 | g.44669367G>C | CA392241603 | PATL2 | c.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) | |
15 | g.44669367G>T | CA392241604 | PATL2 | c.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) | |
15 | g.44669368G>A | CA392241609 | PATL2 | c.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) | |
15 | g.44669368G>C | CA392241610 | PATL2 | c.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) | |
15 | g.44669368G>T | CA392241612 | PATL2 | c.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) | |
15 | g.44669369C>A | CA392241614 | PATL2 | c.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) | |
15 | g.44669369C>G | CA392241615 | PATL2 | c.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) | |
15 | g.44669369C>T | CA490210392 | PATL2 | c.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 |
15 | g.44669370C>A | CA392241617 | PATL2 | c.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) | |
15 | g.44669370C= | CA2173726694 | PATL2 | c.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=) | |
15 | g.44669370C>G | CA392241621 | PATL2 | c.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) | |
15 | g.44669370C>T | CA392241618 | PATL2 | c.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 |
15 | g.44669371T>A | CA392241623 | PATL2 | c.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) | |
15 | g.44669371T>C | CA392241625 | PATL2 | c.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) | |
15 | g.44669371T>G | CA490210393 | PATL2 | c.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=) | |
15 | g.44669372A>C | CA392241626 | PATL2 | c.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) | |
15 | g.44669372A>G | CA490210394 | PATL2 | c.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 |
15 | g.44669372A>T | CA392241628 | PATL2 | c.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) | |
15 | g.44669373T>A | CA392241631 | PATL2 | c.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) | |
15 | g.44669373T>C | CA7536088 | PATL2 | c.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 |
15 | g.44669373T>G | CA392241633 | PATL2 | c.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) | |
15 | g.44669373T= | CA2173726700 | PATL2 | c.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=) | |
15 | g.44669374A= | CA2173726702 | PATL2 | c.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=) | |
15 | g.44669374A>C | CA392241635 | PATL2 | c.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) | |
15 | g.44669374A>G | CA392241636 | PATL2 | c.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 |
15 | g.44669374A>T | CA392241638 | PATL2 | c.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) | |
15 | g.44669375C>A | CA392241641 | PATL2 | c.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 |
15 | g.44669375C>G | CA392241644 | PATL2 | c.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) | |
15 | g.44669375C>T | CA490210395 | PATL2 | c.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=) | |
15 | g.44669376T>A | CA392241646 | PATL2 | c.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) | |
15 | g.44669376T>C | CA392241647 | PATL2 | c.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 |
15 | g.44669376T>G | CA392241650 | PATL2 | c.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) | |
15 | g.44669376T= | CA2173726704 | PATL2 | c.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=) | |
15 | g.44669377T>A | CA392241653 | PATL2 | c.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) | |
15 | g.44669377T>C | CA392241654 | PATL2 | c.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) | |
15 | g.44669377T>G | CA392241655 | PATL2 | c.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) | |
15 | g.44669378C>A | CA392241663 | PATL2 | c.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) | |
15 | g.44669378C= | CA2173726708 | PATL2 | c.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=) | |
15 | g.44669378C>G | CA392241660 | PATL2 | c.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) | |
15 | g.44669378C>T | CA392241657 | PATL2 | c.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) | |
15 | g.44669379C>A | CA392241665 | PATL2 | c.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) | |
15 | g.44669379C= | CA2173726712 | PATL2 | c.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=) | |
15 | g.44669379C>G | CA392241667 | PATL2 | c.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 |
15 | g.44669379C>T | CA270118876 | PATL2 | c.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 |
15 | g.44669379_44669380dup | CA969299868 | PATL2 | c.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 |
15 | g.44669380A>C | CA392241670 | PATL2 | c.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) | |
15 | g.44669380A>G | CA392241672 | PATL2 | c.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) | |
15 | g.44669380A>T | CA392241674 | PATL2 | c.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) | |
15 | g.44669381G>A | CA490210396 | PATL2 | c.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=) | |
15 | g.44669381G>C | CA490210397 | PATL2 | c.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=) | |
15 | g.44669381G>T | CA490210398 | PATL2 | c.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 |
15 | g.44669382C>A | CA7536090 | PATL2 | c.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 |
15 | g.44669382C= | CA2173726715 | PATL2 | c.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=) | |
15 | g.44669382C>G | CA392241678 | PATL2 | c.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 |
15 | g.44669382C>T | CA7536089 | PATL2 | c.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 |
15 | g.44669383C>A | CA392241681 | PATL2 | c.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 |
15 | g.44669383C= | CA2173726718 | PATL2 | c.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=) | |
15 | g.44669383C>G | CA392241682 | PATL2 | c.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) | |
15 | g.44669383C>T | CA392241684 | PATL2 | c.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 |
15 | g.44669384T>A | CA392241688 | PATL2 | c.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) | |
15 | g.44669384T>C | CA490210399 | PATL2 | c.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=) | |
15 | g.44669384T>G | CA392241689 | PATL2 | c.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) | |
15 | g.44669385T>A | CA392241692 | PATL2 | c.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) | |
15 | g.44669385T>C | CA392241698 | PATL2 | c.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) | |
15 | g.44669385T>G | CA392241695 | PATL2 | c.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) | |
15 | g.44669386C>A | CA392241699 | PATL2 | c.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) | |
15 | g.44669386C>G | CA392241701 | PATL2 | c.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) | |
15 | g.44669386C>T | CA392241703 | PATL2 | c.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) | |
15 | g.44669387C>A | CA392241704 | PATL2 | c.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) | |
15 | g.44669387C= | CA2173726725 | PATL2 | c.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=) | |
15 | g.44669387C>G | CA392241706 | PATL2 | c.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 |
15 | g.44669387C>T | CA490210400 | PATL2 | c.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 |
15 | g.44669388T>A | CA392241709 | PATL2 | c.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) | |
15 | g.44669388T>C | CA392241710 | PATL2 | c.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) | |
15 | g.44669388T>G | CA392241713 | PATL2 | c.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) | |
15 | g.44669389C>A | CA392241714 | PATL2 | c.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) | |
15 | g.44669389C>G | CA392241715 | PATL2 | c.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) | |
15 | g.44669389C>T | CA392241716 | PATL2 | c.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) | |
15 | g.44669390T>A | CA490210401 | PATL2 | c.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=) | |
15 | g.44669390T>C | CA392241717 | PATL2 | c.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 |
15 | g.44669390T>G | CA490210402 | PATL2 | c.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=) | |
15 | g.44669390T= | CA2173726731 | PATL2 | c.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=) | |
15 | g.44669391A= | CA2173726736 | PATL2 | c.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=) | |
15 | g.44669391A>C | CA392241719 | PATL2 | c.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) | |
15 | g.44669391A>G | CA270118879 | PATL2 | c.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 |
15 | g.44669391A>T | CA392241718 | PATL2 | c.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) | |
15 | g.44669392T>A | CA392241721 | PATL2 | c.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) | |
15 | g.44669392T>C | CA392241720 | PATL2 | c.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 |
15 | g.44669392T>G | CA392241722 | PATL2 | c.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) | |
15 | g.44669392T= | CA2173726742 | PATL2 | c.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=) | |
15 | g.44669393T>A | CA392241723 | PATL2 | c.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) | |
15 | g.44669393T>C | CA490210403 | PATL2 | c.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 |
15 | g.44669393T>G | CA392241724 | PATL2 | c.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) | |
15 | g.44669393T= | CA2173726744 | PATL2 | c.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=) | |
15 | g.44669394T>A | CA392241725 | PATL2 | c.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) | |
15 | g.44669394T>C | CA392241727 | PATL2 | c.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) | |
15 | g.44669394T>G | CA392241728 | PATL2 | c.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) | |
15 | g.44669395C>A | CA392241731 | PATL2 | c.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) | |
15 | g.44669395C>G | CA392241732 | PATL2 | c.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) | |
15 | g.44669395C>T | CA392241733 | PATL2 | c.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) | |
15 | g.44669396T>A | CA490210404 | PATL2 | c.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=) | |
15 | g.44669396T>C | CA490210405 | PATL2 | c.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 |
15 | g.44669396T>G | CA490210406 | PATL2 | c.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=) | |
15 | g.44669396T= | CA2173726748 | PATL2 | c.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=) | |
15 | g.44669397A= | CA2173726752 | PATL2 | c.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=) | |
15 | g.44669397A>C | CA392241737 | PATL2 | c.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) | |
15 | g.44669397A>G | CA392241739 | PATL2 | c.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 |
15 | g.44669397A>T | CA392241741 | PATL2 | c.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) | |
15 | g.44669398G>A | CA490210407 | PATL2 | c.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=) | |
15 | g.44669398G>C | CA392241746 | PATL2 | c.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) | |
15 | g.44669398G>T | CA392241748 | PATL2 | c.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) | |
15 | g.44669399T>A | CA392241752 | PATL2 | c.945A>T (p.Leu315Phe) c.378A>T (p.Leu126Phe) c.936A>T (p.Leu312Phe) c.723A>T (p.Leu241Phe) c.693A>T (p.Leu231Phe) c.684A>T (p.Leu228Phe) c.510A>T (p.Leu170Phe) c.1059A>T (p.Leu353Phe) c.1050A>T (p.Leu350Phe) c.624A>T (p.Leu208Phe) c.852A>T (p.Leu284Phe) | |
15 | g.44669399T>C | CA490210408 | PATL2 | c.945A>G (p.Leu315=) c.378A>G (p.Leu126=) c.936A>G (p.Leu312=) c.723A>G (p.Leu241=) c.693A>G (p.Leu231=) c.684A>G (p.Leu228=) c.510A>G (p.Leu170=) c.1059A>G (p.Leu353=) c.1050A>G (p.Leu350=) c.624A>G (p.Leu208=) c.852A>G (p.Leu284=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.44669399T>G | CA392241750 | PATL2 | c.945A>C (p.Leu315Phe) c.378A>C (p.Leu126Phe) c.936A>C (p.Leu312Phe) c.723A>C (p.Leu241Phe) c.693A>C (p.Leu231Phe) c.684A>C (p.Leu228Phe) c.510A>C (p.Leu170Phe) c.1059A>C (p.Leu353Phe) c.1050A>C (p.Leu350Phe) c.624A>C (p.Leu208Phe) c.852A>C (p.Leu284Phe) | |
15 | g.44669399T= | CA2173726755 | PATL2 | c.945A= (p.Leu315=) c.378A= (p.Leu126=) c.936A= (p.Leu312=) c.723A= (p.Leu241=) c.693A= (p.Leu231=) c.684A= (p.Leu228=) c.510A= (p.Leu170=) c.1059A= (p.Leu353=) c.1050A= (p.Leu350=) c.624A= (p.Leu208=) c.852A= (p.Leu284=) | |
15 | g.44669400A= | CA2173726758 | PATL2 | c.944T= (p.Leu315=) c.377T= (p.Leu126=) c.935T= (p.Leu312=) c.722T= (p.Leu241=) c.692T= (p.Leu231=) c.683T= (p.Leu228=) c.509T= (p.Leu170=) c.1058T= (p.Leu353=) c.1049T= (p.Leu350=) c.623T= (p.Leu208=) c.851T= (p.Leu284=) | |
15 | g.44669400A>C | CA392241754 | PATL2 | c.944T>G (p.Leu315Ter) c.377T>G (p.Leu126Ter) c.935T>G (p.Leu312Ter) c.722T>G (p.Leu241Ter) c.692T>G (p.Leu231Ter) c.683T>G (p.Leu228Ter) c.509T>G (p.Leu170Ter) c.1058T>G (p.Leu353Ter) c.1049T>G (p.Leu350Ter) c.623T>G (p.Leu208Ter) c.851T>G (p.Leu284Ter) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.44669400A>G | CA392241756 | PATL2 | c.944T>C (p.Leu315Ser) c.377T>C (p.Leu126Ser) c.935T>C (p.Leu312Ser) c.722T>C (p.Leu241Ser) c.692T>C (p.Leu231Ser) c.683T>C (p.Leu228Ser) c.509T>C (p.Leu170Ser) c.1058T>C (p.Leu353Ser) c.1049T>C (p.Leu350Ser) c.623T>C (p.Leu208Ser) c.851T>C (p.Leu284Ser) | |
15 | g.44669400A>T | CA392241757 | PATL2 | c.944T>A (p.Leu315Ter) c.377T>A (p.Leu126Ter) c.935T>A (p.Leu312Ter) c.722T>A (p.Leu241Ter) c.692T>A (p.Leu231Ter) c.683T>A (p.Leu228Ter) c.509T>A (p.Leu170Ter) c.1058T>A (p.Leu353Ter) c.1049T>A (p.Leu350Ter) c.623T>A (p.Leu208Ter) c.851T>A (p.Leu284Ter) | |
15 | g.44669401A= | CA2173726760 | PATL2 | c.943T= (p.Leu315=) c.376T= (p.Leu126=) c.934T= (p.Leu312=) c.721T= (p.Leu241=) c.691T= (p.Leu231=) c.682T= (p.Leu228=) c.508T= (p.Leu170=) c.1057T= (p.Leu353=) c.1048T= (p.Leu350=) c.622T= (p.Leu208=) c.850T= (p.Leu284=) | |
15 | g.44669401A>C | CA392241760 | PATL2 | c.943T>G (p.Leu315Val) c.376T>G (p.Leu126Val) c.934T>G (p.Leu312Val) c.721T>G (p.Leu241Val) c.691T>G (p.Leu231Val) c.682T>G (p.Leu228Val) c.508T>G (p.Leu170Val) c.1057T>G (p.Leu353Val) c.1048T>G (p.Leu350Val) c.622T>G (p.Leu208Val) c.850T>G (p.Leu284Val) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.44669401A>G | CA490210409 | PATL2 | c.943T>C (p.Leu315=) c.376T>C (p.Leu126=) c.934T>C (p.Leu312=) c.721T>C (p.Leu241=) c.691T>C (p.Leu231=) c.682T>C (p.Leu228=) c.508T>C (p.Leu170=) c.1057T>C (p.Leu353=) c.1048T>C (p.Leu350=) c.622T>C (p.Leu208=) c.850T>C (p.Leu284=) | |
15 | g.44669401A>T | CA392241762 | PATL2 | c.943T>A (p.Leu315Ile) c.376T>A (p.Leu126Ile) c.934T>A (p.Leu312Ile) c.721T>A (p.Leu241Ile) c.691T>A (p.Leu231Ile) c.682T>A (p.Leu228Ile) c.508T>A (p.Leu170Ile) c.1057T>A (p.Leu353Ile) c.1048T>A (p.Leu350Ile) c.622T>A (p.Leu208Ile) c.850T>A (p.Leu284Ile) | |
15 | g.44669402C>A | CA392241765 | PATL2 | c.942G>T (p.Gln314His) c.375G>T (p.Gln125His) c.933G>T (p.Gln311His) c.720G>T (p.Gln240His) c.690G>T (p.Gln230His) c.681G>T (p.Gln227His) c.507G>T (p.Gln169His) c.1056G>T (p.Gln352His) c.1047G>T (p.Gln349His) c.621G>T (p.Gln207His) c.849G>T (p.Gln283His) | |
15 | g.44669402C= | CA2173726763 | PATL2 | c.942G= (p.Gln314=) c.375G= (p.Gln125=) c.933G= (p.Gln311=) c.720G= (p.Gln240=) c.690G= (p.Gln230=) c.681G= (p.Gln227=) c.507G= (p.Gln169=) c.1056G= (p.Gln352=) c.1047G= (p.Gln349=) c.621G= (p.Gln207=) c.849G= (p.Gln283=) | |
15 | g.44669402C>G | CA392241768 | PATL2 | c.942G>C (p.Gln314His) c.375G>C (p.Gln125His) c.933G>C (p.Gln311His) c.720G>C (p.Gln240His) c.690G>C (p.Gln230His) c.681G>C (p.Gln227His) c.507G>C (p.Gln169His) c.1056G>C (p.Gln352His) c.1047G>C (p.Gln349His) c.621G>C (p.Gln207His) c.849G>C (p.Gln283His) | |
15 | g.44669402C>T | CA490210410 | PATL2 | c.942G>A (p.Gln314=) c.375G>A (p.Gln125=) c.933G>A (p.Gln311=) c.720G>A (p.Gln240=) c.690G>A (p.Gln230=) c.681G>A (p.Gln227=) c.507G>A (p.Gln169=) c.1056G>A (p.Gln352=) c.1047G>A (p.Gln349=) c.621G>A (p.Gln207=) c.849G>A (p.Gln283=) | dbSNP gnomAD v4 |
15 | g.44669403T>A | CA392241770 | PATL2 | c.941A>T (p.Gln314Leu) c.374A>T (p.Gln125Leu) c.932A>T (p.Gln311Leu) c.719A>T (p.Gln240Leu) c.689A>T (p.Gln230Leu) c.680A>T (p.Gln227Leu) c.506A>T (p.Gln169Leu) c.1055A>T (p.Gln352Leu) c.1046A>T (p.Gln349Leu) c.620A>T (p.Gln207Leu) c.848A>T (p.Gln283Leu) | |
15 | g.44669403T>C | CA392241773 | PATL2 | c.941A>G (p.Gln314Arg) c.374A>G (p.Gln125Arg) c.932A>G (p.Gln311Arg) c.719A>G (p.Gln240Arg) c.689A>G (p.Gln230Arg) c.680A>G (p.Gln227Arg) c.506A>G (p.Gln169Arg) c.1055A>G (p.Gln352Arg) c.1046A>G (p.Gln349Arg) c.620A>G (p.Gln207Arg) c.848A>G (p.Gln283Arg) | dbSNP gnomAD v2 |
15 | g.44669403T>G | CA392241775 | PATL2 | c.941A>C (p.Gln314Pro) c.374A>C (p.Gln125Pro) c.932A>C (p.Gln311Pro) c.719A>C (p.Gln240Pro) c.689A>C (p.Gln230Pro) c.680A>C (p.Gln227Pro) c.506A>C (p.Gln169Pro) c.1055A>C (p.Gln352Pro) c.1046A>C (p.Gln349Pro) c.620A>C (p.Gln207Pro) c.848A>C (p.Gln283Pro) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.44669403T= | CA2173726766 | PATL2 | c.941A= (p.Gln314=) c.374A= (p.Gln125=) c.932A= (p.Gln311=) c.719A= (p.Gln240=) c.689A= (p.Gln230=) c.680A= (p.Gln227=) c.506A= (p.Gln169=) c.1055A= (p.Gln352=) c.1046A= (p.Gln349=) c.620A= (p.Gln207=) c.848A= (p.Gln283=) | |
15 | g.44669404G>A | CA392241778 | PATL2 | c.940C>T (p.Gln314Ter) c.373C>T (p.Gln125Ter) c.931C>T (p.Gln311Ter) c.718C>T (p.Gln240Ter) c.688C>T (p.Gln230Ter) c.679C>T (p.Gln227Ter) c.505C>T (p.Gln169Ter) c.1054C>T (p.Gln352Ter) c.1045C>T (p.Gln349Ter) c.619C>T (p.Gln207Ter) c.847C>T (p.Gln283Ter) | |
15 | g.44669404G>C | CA392241781 | PATL2 | c.940C>G (p.Gln314Glu) c.373C>G (p.Gln125Glu) c.931C>G (p.Gln311Glu) c.718C>G (p.Gln240Glu) c.688C>G (p.Gln230Glu) c.679C>G (p.Gln227Glu) c.505C>G (p.Gln169Glu) c.1054C>G (p.Gln352Glu) c.1045C>G (p.Gln349Glu) c.619C>G (p.Gln207Glu) c.847C>G (p.Gln283Glu) | |
15 | g.44669404G>T | CA392241784 | PATL2 | c.940C>A (p.Gln314Lys) c.373C>A (p.Gln125Lys) c.931C>A (p.Gln311Lys) c.718C>A (p.Gln240Lys) c.688C>A (p.Gln230Lys) c.679C>A (p.Gln227Lys) c.505C>A (p.Gln169Lys) c.1054C>A (p.Gln352Lys) c.1045C>A (p.Gln349Lys) c.619C>A (p.Gln207Lys) c.847C>A (p.Gln283Lys) |