Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.114677410G>A | CA1020155 | AMPD1 | c.1317C>T (p.Phe439=) c.1329C>T (p.Phe443=) c.1112C>T (n.1112C>T) n.994C>T c.1416C>T (p.Phe472=) c.1428C>T (p.Phe476=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.114677410G>C | CA1020154 | AMPD1 | c.1317C>G (p.Phe439Leu) c.1329C>G (p.Phe443Leu) c.1112C>G (n.1112C>G) n.994C>G c.1416C>G (p.Phe472Leu) c.1428C>G (p.Phe476Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.114677410G= | CA1190276291 | AMPD1 | c.1317C= (p.Phe439=) c.1329C= (p.Phe443=) c.1112C= (n.1112C=) n.994C= c.1416C= (p.Phe472=) c.1428C= (p.Phe476=) | |
1 | g.114677410G>T | CA341748474 | AMPD1 | c.1317C>A (p.Phe439Leu) c.1329C>A (p.Phe443Leu) c.1112C>A (n.1112C>A) n.994C>A c.1416C>A (p.Phe472Leu) c.1428C>A (p.Phe476Leu) | COSMIC COSMIC |
1 | g.114677411A>C | CA341748480 | AMPD1 | c.1316T>G (p.Phe439Cys) c.1328T>G (p.Phe443Cys) c.1111T>G (n.1111T>G) n.993T>G c.1415T>G (p.Phe472Cys) c.1427T>G (p.Phe476Cys) | |
1 | g.114677411A>G | CA341748477 | AMPD1 | c.1316T>C (p.Phe439Ser) c.1328T>C (p.Phe443Ser) c.1111T>C (n.1111T>C) n.993T>C c.1415T>C (p.Phe472Ser) c.1427T>C (p.Phe476Ser) | |
1 | g.114677411A>T | CA341748478 | AMPD1 | c.1316T>A (p.Phe439Tyr) c.1328T>A (p.Phe443Tyr) c.1111T>A (n.1111T>A) n.993T>A c.1415T>A (p.Phe472Tyr) c.1427T>A (p.Phe476Tyr) | |
1 | g.114677412A>C | CA341748482 | AMPD1 | c.1315T>G (p.Phe439Val) c.1327T>G (p.Phe443Val) c.1110T>G (n.1110T>G) n.992T>G c.1414T>G (p.Phe472Val) c.1426T>G (p.Phe476Val) | |
1 | g.114677412A>G | CA341748483 | AMPD1 | c.1315T>C (p.Phe439Leu) c.1327T>C (p.Phe443Leu) c.1110T>C (n.1110T>C) n.992T>C c.1414T>C (p.Phe472Leu) c.1426T>C (p.Phe476Leu) | |
1 | g.114677412A>T | CA341748485 | AMPD1 | c.1315T>A (p.Phe439Ile) c.1327T>A (p.Phe443Ile) c.1110T>A (n.1110T>A) n.992T>A c.1414T>A (p.Phe472Ile) c.1426T>A (p.Phe476Ile) | |
1 | g.114677413C>A | CA341748487 | AMPD1 | c.1314G>T (p.Trp438Cys) c.1326G>T (p.Trp442Cys) c.1109G>T (n.1109G>T) n.991G>T c.1413G>T (p.Trp471Cys) c.1425G>T (p.Trp475Cys) | |
1 | g.114677413C= | CA1190276292 | AMPD1 | c.1314G= (p.Trp438=) c.1326G= (p.Trp442=) c.1109G= (n.1109G=) n.991G= c.1413G= (p.Trp471=) c.1425G= (p.Trp475=) | |
1 | g.114677413C>G | CA341748488 | AMPD1 | c.1314G>C (p.Trp438Cys) c.1326G>C (p.Trp442Cys) c.1109G>C (n.1109G>C) n.991G>C c.1413G>C (p.Trp471Cys) c.1425G>C (p.Trp475Cys) | |
1 | g.114677413C>T | CA341748489 | AMPD1 | c.1314G>A (p.Trp438Ter) c.1326G>A (p.Trp442Ter) c.1109G>A (n.1109G>A) n.991G>A c.1413G>A (p.Trp471Ter) c.1425G>A (p.Trp475Ter) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.114677414C>A | CA341748490 | AMPD1 | c.1313G>T (p.Trp438Leu) c.1325G>T (p.Trp442Leu) c.1108G>T (n.1108G>T) n.990G>T c.1412G>T (p.Trp471Leu) c.1424G>T (p.Trp475Leu) | |
1 | g.114677414C>G | CA341748491 | AMPD1 | c.1313G>C (p.Trp438Ser) c.1325G>C (p.Trp442Ser) c.1108G>C (n.1108G>C) n.990G>C c.1412G>C (p.Trp471Ser) c.1424G>C (p.Trp475Ser) | |
1 | g.114677414C>T | CA341748493 | AMPD1 | c.1313G>A (p.Trp438Ter) c.1325G>A (p.Trp442Ter) c.1108G>A (n.1108G>A) n.990G>A c.1412G>A (p.Trp471Ter) c.1424G>A (p.Trp475Ter) | |
1 | g.114677414_114677417delinsCAGG | CA1190276293 | AMPD1 | c.1310_1313delinsCCTG (p.Ser437=) c.1322_1325delinsCCTG (p.Ser441=) c.1105_1108delinsCCTG (n.1105_1108delinsCCTG) n.987_990delinsCCTG c.1409_1412delinsCCTG (p.Ser470=) c.1421_1424delinsCCTG (p.Ser474=) | |
1 | g.114677415A>C | CA341748497 | AMPD1 | c.1312T>G (p.Trp438Gly) c.1324T>G (p.Trp442Gly) c.1107T>G (n.1107T>G) n.989T>G c.1411T>G (p.Trp471Gly) c.1423T>G (p.Trp475Gly) | |
1 | g.114677415A>G | CA341748496 | AMPD1 | c.1312T>C (p.Trp438Arg) c.1324T>C (p.Trp442Arg) c.1107T>C (n.1107T>C) n.989T>C c.1411T>C (p.Trp471Arg) c.1423T>C (p.Trp475Arg) | |
1 | g.114677415A>T | CA341748494 | AMPD1 | c.1312T>A (p.Trp438Arg) c.1324T>A (p.Trp442Arg) c.1107T>A (n.1107T>A) n.989T>A c.1411T>A (p.Trp471Arg) c.1423T>A (p.Trp475Arg) | |
1 | g.114677420_114677422del | CA1020156 | AMPD1 | c.1310_1312del (p.Ser437del) c.1322_1324del (p.Ser441del) c.1105_1107del (n.1105_1107del) n.987_989del c.1409_1411del (p.Ser470del) c.1421_1423del (p.Ser474del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.114677416G>A | CA419883009 | AMPD1 | c.1311C>T (p.Ser437=) c.1323C>T (p.Ser441=) c.1106C>T (n.1106C>T) n.988C>T c.1410C>T (p.Ser470=) c.1422C>T (p.Ser474=) | |
1 | g.114677416G>C | CA419883010 | AMPD1 | c.1311C>G (p.Ser437=) c.1323C>G (p.Ser441=) c.1106C>G (n.1106C>G) n.988C>G c.1410C>G (p.Ser470=) c.1422C>G (p.Ser474=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.114677416G= | CA1190276294 | AMPD1 | c.1311C= (p.Ser437=) c.1323C= (p.Ser441=) c.1106C= (n.1106C=) n.988C= c.1410C= (p.Ser470=) c.1422C= (p.Ser474=) | |
1 | g.114677416G>T | CA419883011 | AMPD1 | c.1311C>A (p.Ser437=) c.1323C>A (p.Ser441=) c.1106C>A (n.1106C>A) n.988C>A c.1410C>A (p.Ser470=) c.1422C>A (p.Ser474=) | |
1 | g.114677417G>A | CA341748499 | AMPD1 | c.1310C>T (p.Ser437Phe) c.1322C>T (p.Ser441Phe) c.1105C>T (n.1105C>T) n.987C>T c.1409C>T (p.Ser470Phe) c.1421C>T (p.Ser474Phe) | |
1 | g.114677417G>C | CA341748500 | AMPD1 | c.1310C>G (p.Ser437Cys) c.1322C>G (p.Ser441Cys) c.1105C>G (n.1105C>G) n.987C>G c.1409C>G (p.Ser470Cys) c.1421C>G (p.Ser474Cys) | |
1 | g.114677417G>T | CA341748501 | AMPD1 | c.1310C>A (p.Ser437Tyr) c.1322C>A (p.Ser441Tyr) c.1105C>A (n.1105C>A) n.987C>A c.1409C>A (p.Ser470Tyr) c.1421C>A (p.Ser474Tyr) | |
1 | g.114677418del | CA2745133608 | AMPD1 | c.1309del (p.Ser437ProfsTer13) c.1321del (p.Ser441ProfsTer13) c.1104del (n.1104del) n.986del c.1408del (p.Ser470ProfsTer13) c.1420del (p.Ser474ProfsTer13) | |
1 | g.114677418A>C | CA341748503 | AMPD1 | c.1309T>G (p.Ser437Ala) c.1321T>G (p.Ser441Ala) c.1104T>G (n.1104T>G) n.986T>G c.1408T>G (p.Ser470Ala) c.1420T>G (p.Ser474Ala) | |
1 | g.114677418A>G | CA341748505 | AMPD1 | c.1309T>C (p.Ser437Pro) c.1321T>C (p.Ser441Pro) c.1104T>C (n.1104T>C) n.986T>C c.1408T>C (p.Ser470Pro) c.1420T>C (p.Ser474Pro) | |
1 | g.114677418A>T | CA341748506 | AMPD1 | c.1309T>A (p.Ser437Thr) c.1321T>A (p.Ser441Thr) c.1104T>A (n.1104T>A) n.986T>A c.1408T>A (p.Ser470Thr) c.1420T>A (p.Ser474Thr) | |
1 | g.114677419G>A | CA29054609 | AMPD1 | c.1308C>T (p.Ser436=) c.1320C>T (p.Ser440=) c.1103C>T (n.1103C>T) n.985C>T c.1407C>T (p.Ser469=) c.1419C>T (p.Ser473=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.114677419G>C | CA419883013 | AMPD1 | c.1308C>G (p.Ser436=) c.1320C>G (p.Ser440=) c.1103C>G (n.1103C>G) n.985C>G c.1407C>G (p.Ser469=) c.1419C>G (p.Ser473=) | |
1 | g.114677419G= | CA1190276295 | AMPD1 | c.1308C= (p.Ser436=) c.1320C= (p.Ser440=) c.1103C= (n.1103C=) n.985C= c.1407C= (p.Ser469=) c.1419C= (p.Ser473=) | |
1 | g.114677419G>T | CA419883012 | AMPD1 | c.1308C>A (p.Ser436=) c.1320C>A (p.Ser440=) c.1103C>A (n.1103C>A) n.985C>A c.1407C>A (p.Ser469=) c.1419C>A (p.Ser473=) | |
1 | g.114677420G>A | CA1020157 | AMPD1 | c.1307C>T (p.Ser436Phe) c.1319C>T (p.Ser440Phe) c.1102C>T (n.1102C>T) n.984C>T c.1406C>T (p.Ser469Phe) c.1418C>T (p.Ser473Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.114677420G>C | CA341748508 | AMPD1 | c.1307C>G (p.Ser436Cys) c.1319C>G (p.Ser440Cys) c.1102C>G (n.1102C>G) n.984C>G c.1406C>G (p.Ser469Cys) c.1418C>G (p.Ser473Cys) | |
1 | g.114677420G= | CA1190276296 | AMPD1 | c.1307C= (p.Ser436=) c.1319C= (p.Ser440=) c.1102C= (n.1102C=) n.984C= c.1406C= (p.Ser469=) c.1418C= (p.Ser473=) | |
1 | g.114677420G>T | CA341748510 | AMPD1 | c.1307C>A (p.Ser436Tyr) c.1319C>A (p.Ser440Tyr) c.1102C>A (n.1102C>A) n.984C>A c.1406C>A (p.Ser469Tyr) c.1418C>A (p.Ser473Tyr) | ClinVar gnomAD v4 |
1 | g.114677423_114677424del | CA2647247319 | AMPD1 | c.1306_1307del (p.Ser436LeufsTer24) c.1318_1319del (p.Ser440LeufsTer24) c.1101_1102del (n.1101_1102del) n.983_984del c.1405_1406del (p.Ser469LeufsTer24) c.1417_1418del (p.Ser473LeufsTer24) | gnomAD v4 |
1 | g.114677421A>C | CA341748512 | AMPD1 | c.1306T>G (p.Ser436Ala) c.1318T>G (p.Ser440Ala) c.1101T>G (n.1101T>G) n.983T>G c.1405T>G (p.Ser469Ala) c.1417T>G (p.Ser473Ala) | |
1 | g.114677421A>G | CA341748514 | AMPD1 | c.1306T>C (p.Ser436Pro) c.1318T>C (p.Ser440Pro) c.1101T>C (n.1101T>C) n.983T>C c.1405T>C (p.Ser469Pro) c.1417T>C (p.Ser473Pro) | |
1 | g.114677421A>T | CA341748515 | AMPD1 | c.1306T>A (p.Ser436Thr) c.1318T>A (p.Ser440Thr) c.1101T>A (n.1101T>A) n.983T>A c.1405T>A (p.Ser469Thr) c.1417T>A (p.Ser473Thr) | |
1 | g.114677422G>A | CA419883014 | AMPD1 | c.1305C>T (p.Leu435=) c.1317C>T (p.Leu439=) c.1100C>T (n.1100C>T) n.982C>T c.1404C>T (p.Leu468=) c.1416C>T (p.Leu472=) | |
1 | g.114677422G>C | CA419883015 | AMPD1 | c.1305C>G (p.Leu435=) c.1317C>G (p.Leu439=) c.1100C>G (n.1100C>G) n.982C>G c.1404C>G (p.Leu468=) c.1416C>G (p.Leu472=) | |
1 | g.114677422G>T | CA419883016 | AMPD1 | c.1305C>A (p.Leu435=) c.1317C>A (p.Leu439=) c.1100C>A (n.1100C>A) n.982C>A c.1404C>A (p.Leu468=) c.1416C>A (p.Leu472=) | |
1 | g.114677423A= | CA1190276297 | AMPD1 | c.1304T= (p.Leu435=) c.1316T= (p.Leu439=) c.1099T= (n.1099T=) n.981T= c.1403T= (p.Leu468=) c.1415T= (p.Leu472=) | |
1 | g.114677423A>C | CA341748518 | AMPD1 | c.1304T>G (p.Leu435Arg) c.1316T>G (p.Leu439Arg) c.1099T>G (n.1099T>G) n.981T>G c.1403T>G (p.Leu468Arg) c.1415T>G (p.Leu472Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.114677423A>G | CA341748520 | AMPD1 | c.1304T>C (p.Leu435Pro) c.1316T>C (p.Leu439Pro) c.1099T>C (n.1099T>C) n.981T>C c.1403T>C (p.Leu468Pro) c.1415T>C (p.Leu472Pro) | gnomAD v4 |
1 | g.114677423A>T | CA341748517 | AMPD1 | c.1304T>A (p.Leu435His) c.1316T>A (p.Leu439His) c.1099T>A (n.1099T>A) n.981T>A c.1403T>A (p.Leu468His) c.1415T>A (p.Leu472His) | |
1 | g.114677424G>A | CA341748521 | AMPD1 | c.1303C>T (p.Leu435Phe) c.1315C>T (p.Leu439Phe) c.1098C>T (n.1098C>T) n.980C>T c.1402C>T (p.Leu468Phe) c.1414C>T (p.Leu472Phe) | |
1 | g.114677424G>C | CA341748522 | AMPD1 | c.1303C>G (p.Leu435Val) c.1315C>G (p.Leu439Val) c.1098C>G (n.1098C>G) n.980C>G c.1402C>G (p.Leu468Val) c.1414C>G (p.Leu472Val) | |
1 | g.114677424G>T | CA341748524 | AMPD1 | c.1303C>A (p.Leu435Ile) c.1315C>A (p.Leu439Ile) c.1098C>A (n.1098C>A) n.980C>A c.1402C>A (p.Leu468Ile) c.1414C>A (p.Leu472Ile) | |
1 | g.114677425T>A | CA341748525 | AMPD1 | c.1302A>T (p.Lys434Asn) c.1314A>T (p.Lys438Asn) c.1097A>T (n.1097A>T) n.979A>T c.1401A>T (p.Lys467Asn) c.1413A>T (p.Lys471Asn) | |
1 | g.114677425T>C | CA419883017 | AMPD1 | c.1302A>G (p.Lys434=) c.1314A>G (p.Lys438=) c.1097A>G (n.1097A>G) n.979A>G c.1401A>G (p.Lys467=) c.1413A>G (p.Lys471=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.114677425T>G | CA341748527 | AMPD1 | c.1302A>C (p.Lys434Asn) c.1314A>C (p.Lys438Asn) c.1097A>C (n.1097A>C) n.979A>C c.1401A>C (p.Lys467Asn) c.1413A>C (p.Lys471Asn) | |
1 | g.114677425T= | CA1190276298 | AMPD1 | c.1302A= (p.Lys434=) c.1314A= (p.Lys438=) c.1097A= (n.1097A=) n.979A= c.1401A= (p.Lys467=) c.1413A= (p.Lys471=) | |
1 | g.114677426T>A | CA341748529 | AMPD1 | c.1301A>T (p.Lys434Ile) c.1313A>T (p.Lys438Ile) c.1096A>T (n.1096A>T) n.978A>T c.1400A>T (p.Lys467Ile) c.1412A>T (p.Lys471Ile) | |
1 | g.114677426T>C | CA341748530 | AMPD1 | c.1301A>G (p.Lys434Arg) c.1313A>G (p.Lys438Arg) c.1096A>G (n.1096A>G) n.978A>G c.1400A>G (p.Lys467Arg) c.1412A>G (p.Lys471Arg) | |
1 | g.114677426T>G | CA341748531 | AMPD1 | c.1301A>C (p.Lys434Thr) c.1313A>C (p.Lys438Thr) c.1096A>C (n.1096A>C) n.978A>C c.1400A>C (p.Lys467Thr) c.1412A>C (p.Lys471Thr) | |
1 | g.114677427T>A | CA341748533 | AMPD1 | c.1300A>T (p.Lys434Ter) c.1312A>T (p.Lys438Ter) c.1095A>T (n.1095A>T) n.977A>T c.1399A>T (p.Lys467Ter) c.1411A>T (p.Lys471Ter) | |
1 | g.114677427T>C | CA341748534 | AMPD1 | c.1300A>G (p.Lys434Glu) c.1312A>G (p.Lys438Glu) c.1095A>G (n.1095A>G) n.977A>G c.1399A>G (p.Lys467Glu) c.1411A>G (p.Lys471Glu) | |
1 | g.114677427T>G | CA341748536 | AMPD1 | c.1300A>C (p.Lys434Gln) c.1312A>C (p.Lys438Gln) c.1095A>C (n.1095A>C) n.977A>C c.1399A>C (p.Lys467Gln) c.1411A>C (p.Lys471Gln) | |
1 | g.114677428G>A | CA419883018 | AMPD1 | c.1299C>T (p.Ser433=) c.1311C>T (p.Ser437=) c.1094C>T (n.1094C>T) n.976C>T c.1398C>T (p.Ser466=) c.1410C>T (p.Ser470=) | |
1 | g.114677428G>C | CA341748538 | AMPD1 | c.1299C>G (p.Ser433Arg) c.1311C>G (p.Ser437Arg) c.1094C>G (n.1094C>G) n.976C>G c.1398C>G (p.Ser466Arg) c.1410C>G (p.Ser470Arg) | |
1 | g.114677428G= | CA1190276299 | AMPD1 | c.1299C= (p.Ser433=) c.1311C= (p.Ser437=) c.1094C= (n.1094C=) n.976C= c.1398C= (p.Ser466=) c.1410C= (p.Ser470=) | |
1 | g.114677428G>T | CA341748539 | AMPD1 | c.1299C>A (p.Ser433Arg) c.1311C>A (p.Ser437Arg) c.1094C>A (n.1094C>A) n.976C>A c.1398C>A (p.Ser466Arg) c.1410C>A (p.Ser470Arg) | dbSNP gnomAD v4 |
1 | g.114677429C>A | CA341748543 | AMPD1 | c.1298G>T (p.Ser433Ile) c.1310G>T (p.Ser437Ile) c.1093G>T (n.1093G>T) n.975G>T c.1397G>T (p.Ser466Ile) c.1409G>T (p.Ser470Ile) | |
1 | g.114677429C>G | CA341748545 | AMPD1 | c.1298G>C (p.Ser433Thr) c.1310G>C (p.Ser437Thr) c.1093G>C (n.1093G>C) n.975G>C c.1397G>C (p.Ser466Thr) c.1409G>C (p.Ser470Thr) | |
1 | g.114677429C>T | CA341748541 | AMPD1 | c.1298G>A (p.Ser433Asn) c.1310G>A (p.Ser437Asn) c.1093G>A (n.1093G>A) n.975G>A c.1397G>A (p.Ser466Asn) c.1409G>A (p.Ser470Asn) | |
1 | g.114677430T>A | CA341748546 | AMPD1 | c.1297A>T (p.Ser433Cys) c.1309A>T (p.Ser437Cys) c.1092A>T (n.1092A>T) n.974A>T c.1396A>T (p.Ser466Cys) c.1408A>T (p.Ser470Cys) | |
1 | g.114677430T>C | CA341748547 | AMPD1 | c.1297A>G (p.Ser433Gly) c.1309A>G (p.Ser437Gly) c.1092A>G (n.1092A>G) n.974A>G c.1396A>G (p.Ser466Gly) c.1408A>G (p.Ser470Gly) | dbSNP gnomAD v4 |
1 | g.114677430T>G | CA341748549 | AMPD1 | c.1297A>C (p.Ser433Arg) c.1309A>C (p.Ser437Arg) c.1092A>C (n.1092A>C) n.974A>C c.1396A>C (p.Ser466Arg) c.1408A>C (p.Ser470Arg) | |
1 | g.114677430T= | CA1190276300 | AMPD1 | c.1297A= (p.Ser433=) c.1309A= (p.Ser437=) c.1092A= (n.1092A=) n.974A= c.1396A= (p.Ser466=) c.1408A= (p.Ser470=) | |
1 | g.114677431C>A | CA341748551 | AMPD1 | c.1296G>T (p.Trp432Cys) c.1308G>T (p.Trp436Cys) c.1091G>T (n.1091G>T) n.973G>T c.1395G>T (p.Trp465Cys) c.1407G>T (p.Trp469Cys) | COSMIC COSMIC |
1 | g.114677431C>G | CA341748552 | AMPD1 | c.1296G>C (p.Trp432Cys) c.1308G>C (p.Trp436Cys) c.1091G>C (n.1091G>C) n.973G>C c.1395G>C (p.Trp465Cys) c.1407G>C (p.Trp469Cys) | gnomAD v4 |
1 | g.114677431C>T | CA341748554 | AMPD1 | c.1296G>A (p.Trp432Ter) c.1308G>A (p.Trp436Ter) c.1091G>A (n.1091G>A) n.973G>A c.1395G>A (p.Trp465Ter) c.1407G>A (p.Trp469Ter) | |
1 | g.114677432C>A | CA341748559 | AMPD1 | c.1295G>T (p.Trp432Leu) c.1307G>T (p.Trp436Leu) c.1090G>T (n.1090G>T) n.972G>T c.1394G>T (p.Trp465Leu) c.1406G>T (p.Trp469Leu) | |
1 | g.114677432C>G | CA341748555 | AMPD1 | c.1295G>C (p.Trp432Ser) c.1307G>C (p.Trp436Ser) c.1090G>C (n.1090G>C) n.972G>C c.1394G>C (p.Trp465Ser) c.1406G>C (p.Trp469Ser) | |
1 | g.114677432C>T | CA341748557 | AMPD1 | c.1295G>A (p.Trp432Ter) c.1307G>A (p.Trp436Ter) c.1090G>A (n.1090G>A) n.972G>A c.1394G>A (p.Trp465Ter) c.1406G>A (p.Trp469Ter) | |
1 | g.114677433A>C | CA341748560 | AMPD1 | c.1294T>G (p.Trp432Gly) c.1306T>G (p.Trp436Gly) c.1089T>G (n.1089T>G) n.971T>G c.1393T>G (p.Trp465Gly) c.1405T>G (p.Trp469Gly) | |
1 | g.114677433A>G | CA341748562 | AMPD1 | c.1294T>C (p.Trp432Arg) c.1306T>C (p.Trp436Arg) c.1089T>C (n.1089T>C) n.971T>C c.1393T>C (p.Trp465Arg) c.1405T>C (p.Trp469Arg) | |
1 | g.114677433A>T | CA341748563 | AMPD1 | c.1294T>A (p.Trp432Arg) c.1306T>A (p.Trp436Arg) c.1089T>A (n.1089T>A) n.971T>A c.1393T>A (p.Trp465Arg) c.1405T>A (p.Trp469Arg) | |
1 | g.114677434C>A | CA341748565 | AMPD1 | c.1293G>T (p.Glu431Asp) c.1305G>T (p.Glu435Asp) c.1088G>T (n.1088G>T) n.970G>T c.1392G>T (p.Glu464Asp) c.1404G>T (p.Glu468Asp) | |
1 | g.114677434C= | CA1190276301 | AMPD1 | c.1293G= (p.Glu431=) c.1305G= (p.Glu435=) c.1088G= (n.1088G=) n.970G= c.1392G= (p.Glu464=) c.1404G= (p.Glu468=) | |
1 | g.114677434C>G | CA341748567 | AMPD1 | c.1293G>C (p.Glu431Asp) c.1305G>C (p.Glu435Asp) c.1088G>C (n.1088G>C) n.970G>C c.1392G>C (p.Glu464Asp) c.1404G>C (p.Glu468Asp) | gnomAD v4 |
1 | g.114677434C>T | CA419883019 | AMPD1 | c.1293G>A (p.Glu431=) c.1305G>A (p.Glu435=) c.1088G>A (n.1088G>A) n.970G>A c.1392G>A (p.Glu464=) c.1404G>A (p.Glu468=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.114677435T>A | CA341748572 | AMPD1 | c.1292A>T (p.Glu431Val) c.1304A>T (p.Glu435Val) c.1087A>T (n.1087A>T) n.969A>T c.1391A>T (p.Glu464Val) c.1403A>T (p.Glu468Val) | |
1 | g.114677435T>C | CA1020158 | AMPD1 | c.1292A>G (p.Glu431Gly) c.1304A>G (p.Glu435Gly) c.1087A>G (n.1087A>G) n.969A>G c.1391A>G (p.Glu464Gly) c.1403A>G (p.Glu468Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.114677435T>G | CA341748569 | AMPD1 | c.1292A>C (p.Glu431Ala) c.1304A>C (p.Glu435Ala) c.1087A>C (n.1087A>C) n.969A>C c.1391A>C (p.Glu464Ala) c.1403A>C (p.Glu468Ala) | |
1 | g.114677435T= | CA1190276302 | AMPD1 | c.1292A= (p.Glu431=) c.1304A= (p.Glu435=) c.1087A= (n.1087A=) n.969A= c.1391A= (p.Glu464=) c.1403A= (p.Glu468=) | |
1 | g.114677436C>A | CA341748573 | AMPD1 | c.1291G>T (p.Glu431Ter) c.1303G>T (p.Glu435Ter) c.1086G>T (n.1086G>T) n.968G>T c.1390G>T (p.Glu464Ter) c.1402G>T (p.Glu468Ter) | |
1 | g.114677436C>G | CA341748576 | AMPD1 | c.1291G>C (p.Glu431Gln) c.1303G>C (p.Glu435Gln) c.1086G>C (n.1086G>C) n.968G>C c.1390G>C (p.Glu464Gln) c.1402G>C (p.Glu468Gln) | |
1 | g.114677436C>T | CA341748575 | AMPD1 | c.1291G>A (p.Glu431Lys) c.1303G>A (p.Glu435Lys) c.1086G>A (n.1086G>A) n.968G>A c.1390G>A (p.Glu464Lys) c.1402G>A (p.Glu468Lys) | |
1 | g.114677437A= | CA1190276303 | AMPD1 | c.1290T= (p.Asp430=) c.1302T= (p.Asp434=) c.1085T= (n.1085T=) n.967T= c.1389T= (p.Asp463=) c.1401T= (p.Asp467=) | |
1 | g.114677437A>C | CA341748578 | AMPD1 | c.1290T>G (p.Asp430Glu) c.1302T>G (p.Asp434Glu) c.1085T>G (n.1085T>G) n.967T>G c.1389T>G (p.Asp463Glu) c.1401T>G (p.Asp467Glu) | |
1 | g.114677437A>G | CA419883020 | AMPD1 | c.1290T>C (p.Asp430=) c.1302T>C (p.Asp434=) c.1085T>C (n.1085T>C) n.967T>C c.1389T>C (p.Asp463=) c.1401T>C (p.Asp467=) | |
1 | g.114677437A>T | CA341748579 | AMPD1 | c.1290T>A (p.Asp430Glu) c.1302T>A (p.Asp434Glu) c.1085T>A (n.1085T>A) n.967T>A c.1389T>A (p.Asp463Glu) c.1401T>A (p.Asp467Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.114677438T>A | CA341748581 | AMPD1 | c.1289A>T (p.Asp430Val) c.1301A>T (p.Asp434Val) c.1084A>T (n.1084A>T) n.966A>T c.1388A>T (p.Asp463Val) c.1400A>T (p.Asp467Val) | |
1 | g.114677438T>C | CA341748582 | AMPD1 | c.1289A>G (p.Asp430Gly) c.1301A>G (p.Asp434Gly) c.1084A>G (n.1084A>G) n.966A>G c.1388A>G (p.Asp463Gly) c.1400A>G (p.Asp467Gly) | |
1 | g.114677438T>G | CA341748583 | AMPD1 | c.1289A>C (p.Asp430Ala) c.1301A>C (p.Asp434Ala) c.1084A>C (n.1084A>C) n.966A>C c.1388A>C (p.Asp463Ala) c.1400A>C (p.Asp467Ala) | |
1 | g.114677439C>A | CA1020159 | AMPD1 | c.1288G>T (p.Asp430Tyr) c.1300G>T (p.Asp434Tyr) c.1083G>T (n.1083G>T) n.965G>T c.1387G>T (p.Asp463Tyr) c.1399G>T (p.Asp467Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.114677439C= | CA1190276304 | AMPD1 | c.1288G= (p.Asp430=) c.1300G= (p.Asp434=) c.1083G= (n.1083G=) n.965G= c.1387G= (p.Asp463=) c.1399G= (p.Asp467=) | |
1 | g.114677439C>G | CA341748586 | AMPD1 | c.1288G>C (p.Asp430His) c.1300G>C (p.Asp434His) c.1083G>C (n.1083G>C) n.965G>C c.1387G>C (p.Asp463His) c.1399G>C (p.Asp467His) | |
1 | g.114677439C>T | CA341748587 | AMPD1 | c.1288G>A (p.Asp430Asn) c.1300G>A (p.Asp434Asn) c.1083G>A (n.1083G>A) n.965G>A c.1387G>A (p.Asp463Asn) c.1399G>A (p.Asp467Asn) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.114677439_114677440insTATGCCGATTTTCA | CA2525137659 | AMPD1 | c.1287_1288insTGAAAATCGGCATA (p.Asp430Ter) c.1299_1300insTGAAAATCGGCATA (p.Asp434Ter) c.1082_1083insTGAAAATCGGCATA (n.1082_1083insTGAAAATCGGCATA) n.964_965insTGAAAATCGGCATA c.1386_1387insTGAAAATCGGCATA (p.Asp463Ter) c.1398_1399insTGAAAATCGGCATA (p.Asp467Ter) | |
1 | g.114677440A>C | CA419883021 | AMPD1 | c.1287T>G (p.Pro429=) c.1299T>G (p.Pro433=) c.1082T>G (n.1082T>G) n.964T>G c.1386T>G (p.Pro462=) c.1398T>G (p.Pro466=) | |
1 | g.114677440A>G | CA419883022 | AMPD1 | c.1287T>C (p.Pro429=) c.1299T>C (p.Pro433=) c.1082T>C (n.1082T>C) n.964T>C c.1386T>C (p.Pro462=) c.1398T>C (p.Pro466=) | |
1 | g.114677440A>T | CA419883023 | AMPD1 | c.1287T>A (p.Pro429=) c.1299T>A (p.Pro433=) c.1082T>A (n.1082T>A) n.964T>A c.1386T>A (p.Pro462=) c.1398T>A (p.Pro466=) | |
1 | g.114677441G>A | CA341748589 | AMPD1 | c.1286C>T (p.Pro429Leu) c.1298C>T (p.Pro433Leu) c.1081C>T (n.1081C>T) n.963C>T c.1385C>T (p.Pro462Leu) c.1397C>T (p.Pro466Leu) | |
1 | g.114677441G>C | CA341748590 | AMPD1 | c.1286C>G (p.Pro429Arg) c.1298C>G (p.Pro433Arg) c.1081C>G (n.1081C>G) n.963C>G c.1385C>G (p.Pro462Arg) c.1397C>G (p.Pro466Arg) | |
1 | g.114677441G>T | CA341748591 | AMPD1 | c.1286C>A (p.Pro429His) c.1298C>A (p.Pro433His) c.1081C>A (n.1081C>A) n.963C>A c.1385C>A (p.Pro462His) c.1397C>A (p.Pro466His) | |
1 | g.114677442G>A | CA341748593 | AMPD1 | c.1285C>T (p.Pro429Ser) c.1297C>T (p.Pro433Ser) c.1080C>T (n.1080C>T) n.962C>T c.1384C>T (p.Pro462Ser) c.1396C>T (p.Pro466Ser) | COSMIC COSMIC |
1 | g.114677442G>C | CA341748594 | AMPD1 | c.1285C>G (p.Pro429Ala) c.1297C>G (p.Pro433Ala) c.1080C>G (n.1080C>G) n.962C>G c.1384C>G (p.Pro462Ala) c.1396C>G (p.Pro466Ala) | |
1 | g.114677442G>T | CA341748596 | AMPD1 | c.1285C>A (p.Pro429Thr) c.1297C>A (p.Pro433Thr) c.1080C>A (n.1080C>A) n.962C>A c.1384C>A (p.Pro462Thr) c.1396C>A (p.Pro466Thr) | |
1 | g.114677442_114677443insTATCGAAATCCACTACGCTCTAAAAATTGCGCAAATTATGGCGTAAGTTATGTTGGATCGCAAAGAGAGCAGCGGGGCACATTATCGGGAGAATTATCCAGAAAAAGTAAGAGA | CA2524455744 | AMPD1 | c.1284_1285insTCTCTTACTTTTTCTGGATAATTCTCCCGATAATGTGCCCCGCTGCTCTCTTTGCGATCCAACATAACTTACGCCATAATTTGCGCAATTTTTAGAGCGTAGTGGATTTCGATA c.1296_1297insTCTCTTACTTTTTCTGGATAATTCTCCCGATAATGTGCCCCGCTGCTCTCTTTGCGATCCAACATAACTTACGCCATAATTTGCGCAATTTTTAGAGCGTAGTGGATTTCGATA c.1079_1080insTCTCTTACTTTTTCTGGATAATTCTCCCGATAATGTGCCCCGCTGCTCTCTTTGCGATCCAACATAACTTACGCCATAATTTGCGCAATTTTTAGAGCGTAGTGGATTTCGATA (n.1079_1080insTCTCTTACTTTTTCTGGATAATTCTCCCGATAATGTGCCCCGCTGCTCTCTTTGCGATCCAACATAACTTACGCCATAATTTGCGCAATTTTTAGAGCGTAGTGGATTTCGATA) n.961_962insTCTCTTACTTTTTCTGGATAATTCTCCCGATAATGTGCCCCGCTGCTCTCTTTGCGATCCAACATAACTTACGCCATAATTTGCGCAATTTTTAGAGCGTAGTGGATTTCGATA c.1383_1384insTCTCTTACTTTTTCTGGATAATTCTCCCGATAATGTGCCCCGCTGCTCTCTTTGCGATCCAACATAACTTACGCCATAATTTGCGCAATTTTTAGAGCGTAGTGGATTTCGATA c.1395_1396insTCTCTTACTTTTTCTGGATAATTCTCCCGATAATGTGCCCCGCTGCTCTCTTTGCGATCCAACATAACTTACGCCATAATTTGCGCAATTTTTAGAGCGTAGTGGATTTCGATA | |
1 | g.114677443A>C | CA341748598 | AMPD1 | c.1284T>G (p.Ser428Arg) c.1296T>G (p.Ser432Arg) c.1079T>G (n.1079T>G) n.961T>G c.1383T>G (p.Ser461Arg) c.1395T>G (p.Ser465Arg) | COSMIC COSMIC |
1 | g.114677443A>G | CA419883024 | AMPD1 | c.1284T>C (p.Ser428=) c.1296T>C (p.Ser432=) c.1079T>C (n.1079T>C) n.961T>C c.1383T>C (p.Ser461=) c.1395T>C (p.Ser465=) | |
1 | g.114677443A>T | CA341748597 | AMPD1 | c.1284T>A (p.Ser428Arg) c.1296T>A (p.Ser432Arg) c.1079T>A (n.1079T>A) n.961T>A c.1383T>A (p.Ser461Arg) c.1395T>A (p.Ser465Arg) | |
1 | g.114677444C>A | CA341748600 | AMPD1 | c.1283G>T (p.Ser428Ile) c.1295G>T (p.Ser432Ile) c.1078G>T (n.1078G>T) n.960G>T c.1382G>T (p.Ser461Ile) c.1394G>T (p.Ser465Ile) | |
1 | g.114677444C>G | CA341748601 | AMPD1 | c.1283G>C (p.Ser428Thr) c.1295G>C (p.Ser432Thr) c.1078G>C (n.1078G>C) n.960G>C c.1382G>C (p.Ser461Thr) c.1394G>C (p.Ser465Thr) | |
1 | g.114677444C>T | CA341748602 | AMPD1 | c.1283G>A (p.Ser428Asn) c.1295G>A (p.Ser432Asn) c.1078G>A (n.1078G>A) n.960G>A c.1382G>A (p.Ser461Asn) c.1394G>A (p.Ser465Asn) | |
1 | g.114677445T>A | CA341748604 | AMPD1 | c.1282A>T (p.Ser428Cys) c.1294A>T (p.Ser432Cys) c.1077A>T (n.1077A>T) n.959A>T c.1381A>T (p.Ser461Cys) c.1393A>T (p.Ser465Cys) | |
1 | g.114677445T>C | CA341748605 | AMPD1 | c.1282A>G (p.Ser428Gly) c.1294A>G (p.Ser432Gly) c.1077A>G (n.1077A>G) n.959A>G c.1381A>G (p.Ser461Gly) c.1393A>G (p.Ser465Gly) | |
1 | g.114677445T>G | CA341748606 | AMPD1 | c.1282A>C (p.Ser428Arg) c.1294A>C (p.Ser432Arg) c.1077A>C (n.1077A>C) n.959A>C c.1381A>C (p.Ser461Arg) c.1393A>C (p.Ser465Arg) | |
1 | g.114677446G>A | CA419883025 | AMPD1 | c.1281C>T (p.Arg427=) c.1293C>T (p.Arg431=) c.1076C>T (n.1076C>T) n.958C>T c.1380C>T (p.Arg460=) c.1392C>T (p.Arg464=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.114677446G>C | CA419883026 | AMPD1 | c.1281C>G (p.Arg427=) c.1293C>G (p.Arg431=) c.1076C>G (n.1076C>G) n.958C>G c.1380C>G (p.Arg460=) c.1392C>G (p.Arg464=) | |
1 | g.114677446G= | CA1190276305 | AMPD1 | c.1281C= (p.Arg427=) c.1293C= (p.Arg431=) c.1076C= (n.1076C=) n.958C= c.1380C= (p.Arg460=) c.1392C= (p.Arg464=) | |
1 | g.114677446G>T | CA419883027 | AMPD1 | c.1281C>A (p.Arg427=) c.1293C>A (p.Arg431=) c.1076C>A (n.1076C>A) n.958C>A c.1380C>A (p.Arg460=) c.1392C>A (p.Arg464=) | COSMIC COSMIC |
1 | g.114677447C>A | CA341748608 | AMPD1 | c.1280G>T (p.Arg427Leu) c.1292G>T (p.Arg431Leu) c.1075G>T (n.1075G>T) n.957G>T c.1379G>T (p.Arg460Leu) c.1391G>T (p.Arg464Leu) | gnomAD v4 |
1 | g.114677447C= | CA1140727244 | AMPD1 | c.1280G= (p.Arg427=) c.1292G= (p.Arg431=) c.1075G= (n.1075G=) n.957G= c.1379G= (p.Arg460=) c.1391G= (p.Arg464=) | |
1 | g.114677447C>G | CA341748610 | AMPD1 | c.1280G>C (p.Arg427Pro) c.1292G>C (p.Arg431Pro) c.1075G>C (n.1075G>C) n.957G>C c.1379G>C (p.Arg460Pro) c.1391G>C (p.Arg464Pro) | |
1 | g.114677447C>T | CA1020160 | AMPD1 | c.1280G>A (p.Arg427His) c.1292G>A (p.Arg431His) c.1075G>A (n.1075G>A) n.957G>A c.1379G>A (p.Arg460His) c.1391G>A (p.Arg464His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.114677448G>A | CA1020161 | AMPD1 | c.1279C>T (p.Arg427Cys) c.1291C>T (p.Arg431Cys) c.1074C>T (n.1074C>T) n.956C>T c.1378C>T (p.Arg460Cys) c.1390C>T (p.Arg464Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.114677448G>C | CA341748612 | AMPD1 | c.1279C>G (p.Arg427Gly) c.1291C>G (p.Arg431Gly) c.1074C>G (n.1074C>G) n.956C>G c.1378C>G (p.Arg460Gly) c.1390C>G (p.Arg464Gly) | gnomAD v4 |
1 | g.114677448G= | CA1190276306 | AMPD1 | c.1279C= (p.Arg427=) c.1291C= (p.Arg431=) c.1074C= (n.1074C=) n.956C= c.1378C= (p.Arg460=) c.1390C= (p.Arg464=) | |
1 | g.114677448G>T | CA341748614 | AMPD1 | c.1279C>A (p.Arg427Ser) c.1291C>A (p.Arg431Ser) c.1074C>A (n.1074C>A) n.956C>A c.1378C>A (p.Arg460Ser) c.1390C>A (p.Arg464Ser) | gnomAD v4 |
1 | g.114677449G>A | CA419883030 | AMPD1 | c.1278C>T (p.Gly426=) c.1290C>T (p.Gly430=) c.1073C>T (n.1073C>T) n.955C>T c.1377C>T (p.Gly459=) c.1389C>T (p.Gly463=) | |
1 | g.114677449G>C | CA419883029 | AMPD1 | c.1278C>G (p.Gly426=) c.1290C>G (p.Gly430=) c.1073C>G (n.1073C>G) n.955C>G c.1377C>G (p.Gly459=) c.1389C>G (p.Gly463=) | |
1 | g.114677449G>T | CA419883028 | AMPD1 | c.1278C>A (p.Gly426=) c.1290C>A (p.Gly430=) c.1073C>A (n.1073C>A) n.955C>A c.1377C>A (p.Gly459=) c.1389C>A (p.Gly463=) | |
1 | g.114677450C>A | CA341748619 | AMPD1 | c.1277G>T (p.Gly426Val) c.1289G>T (p.Gly430Val) c.1072G>T (n.1072G>T) n.954G>T c.1376G>T (p.Gly459Val) c.1388G>T (p.Gly463Val) | COSMIC COSMIC |
1 | g.114677450C>G | CA341748617 | AMPD1 | c.1277G>C (p.Gly426Ala) c.1289G>C (p.Gly430Ala) c.1072G>C (n.1072G>C) n.954G>C c.1376G>C (p.Gly459Ala) c.1388G>C (p.Gly463Ala) | |
1 | g.114677450C>T | CA341748616 | AMPD1 | c.1277G>A (p.Gly426Asp) c.1289G>A (p.Gly430Asp) c.1072G>A (n.1072G>A) n.954G>A c.1376G>A (p.Gly459Asp) c.1388G>A (p.Gly463Asp) | |
1 | g.114677451C>A | CA341748620 | AMPD1 | c.1276G>T (p.Gly426Cys) c.1288G>T (p.Gly430Cys) c.1071G>T (n.1071G>T) n.953G>T c.1375G>T (p.Gly459Cys) c.1387G>T (p.Gly463Cys) | |
1 | g.114677451C>G | CA341748621 | AMPD1 | c.1276G>C (p.Gly426Arg) c.1288G>C (p.Gly430Arg) c.1071G>C (n.1071G>C) n.953G>C c.1375G>C (p.Gly459Arg) c.1387G>C (p.Gly463Arg) | |
1 | g.114677451C>T | CA341748623 | AMPD1 | c.1276G>A (p.Gly426Ser) c.1288G>A (p.Gly430Ser) c.1071G>A (n.1071G>A) n.953G>A c.1375G>A (p.Gly459Ser) c.1387G>A (p.Gly463Ser) | |
1 | g.114677452A>C | CA341748624 | AMPD1 | c.1275T>G (p.Tyr425Ter) c.1287T>G (p.Tyr429Ter) c.1070T>G (n.1070T>G) n.952T>G c.1374T>G (p.Tyr458Ter) c.1386T>G (p.Tyr462Ter) | |
1 | g.114677452A>G | CA419883031 | AMPD1 | c.1275T>C (p.Tyr425=) c.1287T>C (p.Tyr429=) c.1070T>C (n.1070T>C) n.952T>C c.1374T>C (p.Tyr458=) c.1386T>C (p.Tyr462=) | |
1 | g.114677452A>T | CA341748625 | AMPD1 | c.1275T>A (p.Tyr425Ter) c.1287T>A (p.Tyr429Ter) c.1070T>A (n.1070T>A) n.952T>A c.1374T>A (p.Tyr458Ter) c.1386T>A (p.Tyr462Ter) | |
1 | g.114677453T>A | CA341748627 | AMPD1 | c.1274A>T (p.Tyr425Phe) c.1286A>T (p.Tyr429Phe) c.1069A>T (n.1069A>T) n.951A>T c.1373A>T (p.Tyr458Phe) c.1385A>T (p.Tyr462Phe) | |
1 | g.114677453T>C | CA341748628 | AMPD1 | c.1274A>G (p.Tyr425Cys) c.1286A>G (p.Tyr429Cys) c.1069A>G (n.1069A>G) n.951A>G c.1373A>G (p.Tyr458Cys) c.1385A>G (p.Tyr462Cys) | dbSNP gnomAD v4 |
1 | g.114677453T>G | CA341748629 | AMPD1 | c.1274A>C (p.Tyr425Ser) c.1286A>C (p.Tyr429Ser) c.1069A>C (n.1069A>C) n.951A>C c.1373A>C (p.Tyr458Ser) c.1385A>C (p.Tyr462Ser) | |
1 | g.114677453T= | CA1190276307 | AMPD1 | c.1274A= (p.Tyr425=) c.1286A= (p.Tyr429=) c.1069A= (n.1069A=) n.951A= c.1373A= (p.Tyr458=) c.1385A= (p.Tyr462=) | |
1 | g.114677454A>C | CA341748631 | AMPD1 | c.1273T>G (p.Tyr425Asp) c.1285T>G (p.Tyr429Asp) c.1068T>G (n.1068T>G) n.950T>G c.1372T>G (p.Tyr458Asp) c.1384T>G (p.Tyr462Asp) | |
1 | g.114677454A>G | CA341748632 | AMPD1 | c.1273T>C (p.Tyr425His) c.1285T>C (p.Tyr429His) c.1068T>C (n.1068T>C) n.950T>C c.1372T>C (p.Tyr458His) c.1384T>C (p.Tyr462His) | gnomAD v4 |
1 | g.114677454A>T | CA341748634 | AMPD1 | c.1273T>A (p.Tyr425Asn) c.1285T>A (p.Tyr429Asn) c.1068T>A (n.1068T>A) n.950T>A c.1372T>A (p.Tyr458Asn) c.1384T>A (p.Tyr462Asn) | |
1 | g.114677455G>A | CA419883032 | AMPD1 | c.1272C>T (p.Ile424=) c.1284C>T (p.Ile428=) c.1067C>T (n.1067C>T) n.949C>T c.1371C>T (p.Ile457=) c.1383C>T (p.Ile461=) | gnomAD v4 |
1 | g.114677455G>C | CA341748636 | AMPD1 | c.1272C>G (p.Ile424Met) c.1284C>G (p.Ile428Met) c.1067C>G (n.1067C>G) n.949C>G c.1371C>G (p.Ile457Met) c.1383C>G (p.Ile461Met) | |
1 | g.114677455G>T | CA419883033 | AMPD1 | c.1272C>A (p.Ile424=) c.1284C>A (p.Ile428=) c.1067C>A (n.1067C>A) n.949C>A c.1371C>A (p.Ile457=) c.1383C>A (p.Ile461=) | gnomAD v4 |
1 | g.114677456A= | CA1190276308 | AMPD1 | c.1271T= (p.Ile424=) c.1283T= (p.Ile428=) c.1066T= (n.1066T=) n.948T= c.1370T= (p.Ile457=) c.1382T= (p.Ile461=) | |
1 | g.114677456A>C | CA341748641 | AMPD1 | c.1271T>G (p.Ile424Ser) c.1283T>G (p.Ile428Ser) c.1066T>G (n.1066T>G) n.948T>G c.1370T>G (p.Ile457Ser) c.1382T>G (p.Ile461Ser) | |
1 | g.114677456A>G | CA341748639 | AMPD1 | c.1271T>C (p.Ile424Thr) c.1283T>C (p.Ile428Thr) c.1066T>C (n.1066T>C) n.948T>C c.1370T>C (p.Ile457Thr) c.1382T>C (p.Ile461Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.114677456A>T | CA341748638 | AMPD1 | c.1271T>A (p.Ile424Asn) c.1283T>A (p.Ile428Asn) c.1066T>A (n.1066T>A) n.948T>A c.1370T>A (p.Ile457Asn) c.1382T>A (p.Ile461Asn) | gnomAD v4 |
1 | g.114677457T>A | CA341748644 | AMPD1 | c.1270A>T (p.Ile424Phe) c.1282A>T (p.Ile428Phe) c.1065A>T (n.1065A>T) n.947A>T c.1369A>T (p.Ile457Phe) c.1381A>T (p.Ile461Phe) | |
1 | g.114677457T>C | CA341748645 | AMPD1 | c.1270A>G (p.Ile424Val) c.1282A>G (p.Ile428Val) c.1065A>G (n.1065A>G) n.947A>G c.1369A>G (p.Ile457Val) c.1381A>G (p.Ile461Val) | |
1 | g.114677457T>G | CA341748646 | AMPD1 | c.1270A>C (p.Ile424Leu) c.1282A>C (p.Ile428Leu) c.1065A>C (n.1065A>C) n.947A>C c.1369A>C (p.Ile457Leu) c.1381A>C (p.Ile461Leu) | |
1 | g.114677458G>A | CA29054631 | AMPD1 | c.1269C>T (p.Ser423=) c.1281C>T (p.Ser427=) c.1064C>T (n.1064C>T) n.946C>T c.1368C>T (p.Ser456=) c.1380C>T (p.Ser460=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.114677458G>C | CA419883034 | AMPD1 | c.1269C>G (p.Ser423=) c.1281C>G (p.Ser427=) c.1064C>G (n.1064C>G) n.946C>G c.1368C>G (p.Ser456=) c.1380C>G (p.Ser460=) | |
1 | g.114677458G= | CA1190276309 | AMPD1 | c.1269C= (p.Ser423=) c.1281C= (p.Ser427=) c.1064C= (n.1064C=) n.946C= c.1368C= (p.Ser456=) c.1380C= (p.Ser460=) | |
1 | g.114677458G>T | CA419883035 | AMPD1 | c.1269C>A (p.Ser423=) c.1281C>A (p.Ser427=) c.1064C>A (n.1064C>A) n.946C>A c.1368C>A (p.Ser456=) c.1380C>A (p.Ser460=) | |
1 | g.114677459G>A | CA341748648 | AMPD1 | c.1268C>T (p.Ser423Phe) c.1280C>T (p.Ser427Phe) c.1063C>T (n.1063C>T) n.945C>T c.1367C>T (p.Ser456Phe) c.1379C>T (p.Ser460Phe) | |
1 | g.114677459G>C | CA341748649 | AMPD1 | c.1268C>G (p.Ser423Cys) c.1280C>G (p.Ser427Cys) c.1063C>G (n.1063C>G) n.945C>G c.1367C>G (p.Ser456Cys) c.1379C>G (p.Ser460Cys) | |
1 | g.114677459G>T | CA341748650 | AMPD1 | c.1268C>A (p.Ser423Tyr) c.1280C>A (p.Ser427Tyr) c.1063C>A (n.1063C>A) n.945C>A c.1367C>A (p.Ser456Tyr) c.1379C>A (p.Ser460Tyr) | |
1 | g.114677460A>C | CA341748651 | AMPD1 | c.1267T>G (p.Ser423Ala) c.1279T>G (p.Ser427Ala) c.1062T>G (n.1062T>G) n.944T>G c.1366T>G (p.Ser456Ala) c.1378T>G (p.Ser460Ala) | |
1 | g.114677460A>G | CA341748652 | AMPD1 | c.1267T>C (p.Ser423Pro) c.1279T>C (p.Ser427Pro) c.1062T>C (n.1062T>C) n.944T>C c.1366T>C (p.Ser456Pro) c.1378T>C (p.Ser460Pro) | |
1 | g.114677460A>T | CA341748653 | AMPD1 | c.1267T>A (p.Ser423Thr) c.1279T>A (p.Ser427Thr) c.1062T>A (n.1062T>A) n.944T>A c.1366T>A (p.Ser456Thr) c.1378T>A (p.Ser460Thr) | gnomAD v4 |
1 | g.114677461C>A | CA419883036 | AMPD1 | c.1266G>T (p.Leu422=) c.1278G>T (p.Leu426=) c.1061G>T (n.1061G>T) n.943G>T c.1365G>T (p.Leu455=) c.1377G>T (p.Leu459=) | |
1 | g.114677461C>G | CA419883037 | AMPD1 | c.1266G>C (p.Leu422=) c.1278G>C (p.Leu426=) c.1061G>C (n.1061G>C) n.943G>C c.1365G>C (p.Leu455=) c.1377G>C (p.Leu459=) | |
1 | g.114677461C>T | CA419883038 | AMPD1 | c.1266G>A (p.Leu422=) c.1278G>A (p.Leu426=) c.1061G>A (n.1061G>A) n.943G>A c.1365G>A (p.Leu455=) c.1377G>A (p.Leu459=) | gnomAD v4 |
1 | g.114677462A>C | CA341748654 | AMPD1 | c.1265T>G (p.Leu422Arg) c.1277T>G (p.Leu426Arg) c.1060T>G (n.1060T>G) n.942T>G c.1364T>G (p.Leu455Arg) c.1376T>G (p.Leu459Arg) | |
1 | g.114677462A>G | CA341748655 | AMPD1 | c.1265T>C (p.Leu422Pro) c.1277T>C (p.Leu426Pro) c.1060T>C (n.1060T>C) n.942T>C c.1364T>C (p.Leu455Pro) c.1376T>C (p.Leu459Pro) | gnomAD v4 |
1 | g.114677462A>T | CA341748656 | AMPD1 | c.1265T>A (p.Leu422Gln) c.1277T>A (p.Leu426Gln) c.1060T>A (n.1060T>A) n.942T>A c.1364T>A (p.Leu455Gln) c.1376T>A (p.Leu459Gln) | |
1 | g.114677463G>A | CA419883039 | AMPD1 | c.1264C>T (p.Leu422=) c.1276C>T (p.Leu426=) c.1059C>T (n.1059C>T) n.941C>T c.1363C>T (p.Leu455=) c.1375C>T (p.Leu459=) | |
1 | g.114677463G>C | CA341748657 | AMPD1 | c.1264C>G (p.Leu422Val) c.1276C>G (p.Leu426Val) c.1059C>G (n.1059C>G) n.941C>G c.1363C>G (p.Leu455Val) c.1375C>G (p.Leu459Val) | ClinVar dbSNP gnomAD v4 |
1 | g.114677463G= | CA1190276310 | AMPD1 | c.1264C= (p.Leu422=) c.1276C= (p.Leu426=) c.1059C= (n.1059C=) n.941C= c.1363C= (p.Leu455=) c.1375C= (p.Leu459=) | |
1 | g.114677463G>T | CA341748658 | AMPD1 | c.1264C>A (p.Leu422Met) c.1276C>A (p.Leu426Met) c.1059C>A (n.1059C>A) n.941C>A c.1363C>A (p.Leu455Met) c.1375C>A (p.Leu459Met) | |
1 | g.114677464G>A | CA419883041 | AMPD1 | c.1263C>T (p.Arg421=) c.1275C>T (p.Arg425=) c.1058C>T (n.1058C>T) n.940C>T c.1362C>T (p.Arg454=) c.1374C>T (p.Arg458=) | |
1 | g.114677464G>C | CA419883042 | AMPD1 | c.1263C>G (p.Arg421=) c.1275C>G (p.Arg425=) c.1058C>G (n.1058C>G) n.940C>G c.1362C>G (p.Arg454=) c.1374C>G (p.Arg458=) | |
1 | g.114677464G>T | CA419883040 | AMPD1 | c.1263C>A (p.Arg421=) c.1275C>A (p.Arg425=) c.1058C>A (n.1058C>A) n.940C>A c.1362C>A (p.Arg454=) c.1374C>A (p.Arg458=) | |
1 | g.114677465C>A | CA341748659 | AMPD1 | c.1262G>T (p.Arg421Leu) c.1274G>T (p.Arg425Leu) c.1057G>T (n.1057G>T) n.939G>T c.1361G>T (p.Arg454Leu) c.1373G>T (p.Arg458Leu) | COSMIC COSMIC |
1 | g.114677465C= | CA1141580998 | AMPD1 | c.1262G= (p.Arg421=) c.1274G= (p.Arg425=) c.1057G= (n.1057G=) n.939G= c.1361G= (p.Arg454=) c.1373G= (p.Arg458=) | |
1 | g.114677465C>G | CA341748661 | AMPD1 | c.1262G>C (p.Arg421Pro) c.1274G>C (p.Arg425Pro) c.1057G>C (n.1057G>C) n.939G>C c.1361G>C (p.Arg454Pro) c.1373G>C (p.Arg458Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.114677465C>T | CA128025 | AMPD1 | c.1262G>A (p.Arg421His) c.1274G>A (p.Arg425His) c.1057G>A (n.1057G>A) n.939G>A c.1361G>A (p.Arg454His) c.1373G>A (p.Arg458His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.114677466G>A | CA1020162 | AMPD1 | c.1261C>T (p.Arg421Cys) c.1273C>T (p.Arg425Cys) c.1056C>T (n.1056C>T) n.938C>T c.1360C>T (p.Arg454Cys) c.1372C>T (p.Arg458Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.114677466G>C | CA341748663 | AMPD1 | c.1261C>G (p.Arg421Gly) c.1273C>G (p.Arg425Gly) c.1056C>G (n.1056C>G) n.938C>G c.1360C>G (p.Arg454Gly) c.1372C>G (p.Arg458Gly) | |
1 | g.114677466G= | CA1142928678 | AMPD1 | c.1261C= (p.Arg421=) c.1273C= (p.Arg425=) c.1056C= (n.1056C=) n.938C= c.1360C= (p.Arg454=) c.1372C= (p.Arg458=) | |
1 | g.114677466G>T | CA341748665 | AMPD1 | c.1261C>A (p.Arg421Ser) c.1273C>A (p.Arg425Ser) c.1056C>A (n.1056C>A) n.938C>A c.1360C>A (p.Arg454Ser) c.1372C>A (p.Arg458Ser) | |
1 | g.114677467G>A | CA419883043 | AMPD1 | c.1260C>T (p.Pro420=) c.1272C>T (p.Pro424=) c.1055C>T (n.1055C>T) n.937C>T c.1359C>T (p.Pro453=) c.1371C>T (p.Pro457=) | |
1 | g.114677467G>C | CA419883044 | AMPD1 | c.1260C>G (p.Pro420=) c.1272C>G (p.Pro424=) c.1055C>G (n.1055C>G) n.937C>G c.1359C>G (p.Pro453=) c.1371C>G (p.Pro457=) | |
1 | g.114677467G>T | CA419883045 | AMPD1 | c.1260C>A (p.Pro420=) c.1272C>A (p.Pro424=) c.1055C>A (n.1055C>A) n.937C>A c.1359C>A (p.Pro453=) c.1371C>A (p.Pro457=) | |
1 | g.114677468G>A | CA1020163 | AMPD1 | c.1259C>T (p.Pro420Leu) c.1271C>T (p.Pro424Leu) c.1054C>T (n.1054C>T) n.936C>T c.1358C>T (p.Pro453Leu) c.1370C>T (p.Pro457Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.114677468G>C | CA341748666 | AMPD1 | c.1259C>G (p.Pro420Arg) c.1271C>G (p.Pro424Arg) c.1054C>G (n.1054C>G) n.936C>G c.1358C>G (p.Pro453Arg) c.1370C>G (p.Pro457Arg) | |
1 | g.114677468G= | CA1190276311 | AMPD1 | c.1259C= (p.Pro420=) c.1271C= (p.Pro424=) c.1054C= (n.1054C=) n.936C= c.1358C= (p.Pro453=) c.1370C= (p.Pro457=) | |
1 | g.114677468G>T | CA341748667 | AMPD1 | c.1259C>A (p.Pro420His) c.1271C>A (p.Pro424His) c.1054C>A (n.1054C>A) n.936C>A c.1358C>A (p.Pro453His) c.1370C>A (p.Pro457His) | |
1 | g.114677469G>A | CA341748669 | AMPD1 | c.1258C>T (p.Pro420Ser) c.1270C>T (p.Pro424Ser) c.1053C>T (n.1053C>T) n.935C>T c.1357C>T (p.Pro453Ser) c.1369C>T (p.Pro457Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.114677469G>C | CA341748670 | AMPD1 | c.1258C>G (p.Pro420Ala) c.1270C>G (p.Pro424Ala) c.1053C>G (n.1053C>G) n.935C>G c.1357C>G (p.Pro453Ala) c.1369C>G (p.Pro457Ala) | |
1 | g.114677469G= | CA1190276312 | AMPD1 | c.1258C= (p.Pro420=) c.1270C= (p.Pro424=) c.1053C= (n.1053C=) n.935C= c.1357C= (p.Pro453=) c.1369C= (p.Pro457=) | |
1 | g.114677469G>T | CA341748671 | AMPD1 | c.1258C>A (p.Pro420Thr) c.1270C>A (p.Pro424Thr) c.1053C>A (n.1053C>A) n.935C>A c.1357C>A (p.Pro453Thr) c.1369C>A (p.Pro457Thr) | |
1 | g.114677470C>A | CA341748673 | AMPD1 | c.1257G>T (p.Glu419Asp) c.1269G>T (p.Glu423Asp) c.1052G>T (n.1052G>T) n.934G>T c.1356G>T (p.Glu452Asp) c.1368G>T (p.Glu456Asp) | |
1 | g.114677470C>G | CA341748675 | AMPD1 | c.1257G>C (p.Glu419Asp) c.1269G>C (p.Glu423Asp) c.1052G>C (n.1052G>C) n.934G>C c.1356G>C (p.Glu452Asp) c.1368G>C (p.Glu456Asp) | |
1 | g.114677470C>T | CA419883046 | AMPD1 | c.1257G>A (p.Glu419=) c.1269G>A (p.Glu423=) c.1052G>A (n.1052G>A) n.934G>A c.1356G>A (p.Glu452=) c.1368G>A (p.Glu456=) | gnomAD v4 |
1 | g.114677471T>A | CA341748679 | AMPD1 | c.1256A>T (p.Glu419Val) c.1268A>T (p.Glu423Val) c.1051A>T (n.1051A>T) n.933A>T c.1355A>T (p.Glu452Val) c.1367A>T (p.Glu456Val) | |
1 | g.114677471T>C | CA341748677 | AMPD1 | c.1256A>G (p.Glu419Gly) c.1268A>G (p.Glu423Gly) c.1051A>G (n.1051A>G) n.933A>G c.1355A>G (p.Glu452Gly) c.1367A>G (p.Glu456Gly) | |
1 | g.114677471T>G | CA341748678 | AMPD1 | c.1256A>C (p.Glu419Ala) c.1268A>C (p.Glu423Ala) c.1051A>C (n.1051A>C) n.933A>C c.1355A>C (p.Glu452Ala) c.1367A>C (p.Glu456Ala) | ClinVar dbSNP |
1 | g.114677472C>A | CA341748680 | AMPD1 | c.1255G>T (p.Glu419Ter) c.1267G>T (p.Glu423Ter) c.1050G>T (n.1050G>T) n.932G>T c.1354G>T (p.Glu452Ter) c.1366G>T (p.Glu456Ter) | |
1 | g.114677472C>G | CA341748681 | AMPD1 | c.1255G>C (p.Glu419Gln) c.1267G>C (p.Glu423Gln) c.1050G>C (n.1050G>C) n.932G>C c.1354G>C (p.Glu452Gln) c.1366G>C (p.Glu456Gln) | |
1 | g.114677472C>T | CA341748682 | AMPD1 | c.1255G>A (p.Glu419Lys) c.1267G>A (p.Glu423Lys) c.1050G>A (n.1050G>A) n.932G>A c.1354G>A (p.Glu452Lys) c.1366G>A (p.Glu456Lys) | gnomAD v4 |
1 | g.114677473A= | CA1190276313 | AMPD1 | c.1254T= (p.Ala418=) c.1266T= (p.Ala422=) c.1049T= (n.1049T=) n.931T= c.1353T= (p.Ala451=) c.1365T= (p.Ala455=) | |
1 | g.114677473A>C | CA419883047 | AMPD1 | c.1254T>G (p.Ala418=) c.1266T>G (p.Ala422=) c.1049T>G (n.1049T>G) n.931T>G c.1353T>G (p.Ala451=) c.1365T>G (p.Ala455=) | |
1 | g.114677473A>G | CA419883048 | AMPD1 | c.1254T>C (p.Ala418=) c.1266T>C (p.Ala422=) c.1049T>C (n.1049T>C) n.931T>C c.1353T>C (p.Ala451=) c.1365T>C (p.Ala455=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.114677473A>T | CA419883049 | AMPD1 | c.1254T>A (p.Ala418=) c.1266T>A (p.Ala422=) c.1049T>A (n.1049T>A) n.931T>A c.1353T>A (p.Ala451=) c.1365T>A (p.Ala455=) | |
1 | g.114677474G>A | CA341748684 | AMPD1 | c.1253C>T (p.Ala418Val) c.1265C>T (p.Ala422Val) c.1048C>T (n.1048C>T) n.930C>T c.1352C>T (p.Ala451Val) c.1364C>T (p.Ala455Val) | |
1 | g.114677474G>C | CA341748685 | AMPD1 | c.1253C>G (p.Ala418Gly) c.1265C>G (p.Ala422Gly) c.1048C>G (n.1048C>G) n.930C>G c.1352C>G (p.Ala451Gly) c.1364C>G (p.Ala455Gly) | |
1 | g.114677474G>T | CA341748686 | AMPD1 | c.1253C>A (p.Ala418Asp) c.1265C>A (p.Ala422Asp) c.1048C>A (n.1048C>A) n.930C>A c.1352C>A (p.Ala451Asp) c.1364C>A (p.Ala455Asp) | |
1 | g.114677475C>A | CA341748687 | AMPD1 | c.1252G>T (p.Ala418Ser) c.1264G>T (p.Ala422Ser) c.1047G>T (n.1047G>T) n.929G>T c.1351G>T (p.Ala451Ser) c.1363G>T (p.Ala455Ser) | |
1 | g.114677475C>G | CA341748688 | AMPD1 | c.1252G>C (p.Ala418Pro) c.1264G>C (p.Ala422Pro) c.1047G>C (n.1047G>C) n.929G>C c.1351G>C (p.Ala451Pro) c.1363G>C (p.Ala455Pro) | gnomAD v4 |
1 | g.114677475C>T | CA341748689 | AMPD1 | c.1252G>A (p.Ala418Thr) c.1264G>A (p.Ala422Thr) c.1047G>A (n.1047G>A) n.929G>A c.1351G>A (p.Ala451Thr) c.1363G>A (p.Ala455Thr) | |
1 | g.114677476A>C | CA341748690 | AMPD1 | c.1251T>G (p.His417Gln) c.1263T>G (p.His421Gln) c.1046T>G (n.1046T>G) n.928T>G c.1350T>G (p.His450Gln) c.1362T>G (p.His454Gln) | |
1 | g.114677476A>G | CA419883050 | AMPD1 | c.1251T>C (p.His417=) c.1263T>C (p.His421=) c.1046T>C (n.1046T>C) n.928T>C c.1350T>C (p.His450=) c.1362T>C (p.His454=) | |
1 | g.114677476A>T | CA341748691 | AMPD1 | c.1251T>A (p.His417Gln) c.1263T>A (p.His421Gln) c.1046T>A (n.1046T>A) n.928T>A c.1350T>A (p.His450Gln) c.1362T>A (p.His454Gln) | COSMIC COSMIC |
1 | g.114677477T>A | CA341748693 | AMPD1 | c.1250A>T (p.His417Leu) c.1262A>T (p.His421Leu) c.1045A>T (n.1045A>T) n.927A>T c.1349A>T (p.His450Leu) c.1361A>T (p.His454Leu) | |
1 | g.114677477T>C | CA1020164 | AMPD1 | c.1250A>G (p.His417Arg) c.1262A>G (p.His421Arg) c.1045A>G (n.1045A>G) n.927A>G c.1349A>G (p.His450Arg) c.1361A>G (p.His454Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.114677477T>G | CA341748692 | AMPD1 | c.1250A>C (p.His417Pro) c.1262A>C (p.His421Pro) c.1045A>C (n.1045A>C) n.927A>C c.1349A>C (p.His450Pro) c.1361A>C (p.His454Pro) | |
1 | g.114677477T= | CA1143806931 | AMPD1 | c.1250A= (p.His417=) c.1262A= (p.His421=) c.1045A= (n.1045A=) n.927A= c.1349A= (p.His450=) c.1361A= (p.His454=) | |
1 | g.114677478G>A | CA341748694 | AMPD1 | c.1249C>T (p.His417Tyr) c.1261C>T (p.His421Tyr) c.1044C>T (n.1044C>T) n.926C>T c.1348C>T (p.His450Tyr) c.1360C>T (p.His454Tyr) | gnomAD v4 |
1 | g.114677478G>C | CA341748695 | AMPD1 | c.1249C>G (p.His417Asp) c.1261C>G (p.His421Asp) c.1044C>G (n.1044C>G) n.926C>G c.1348C>G (p.His450Asp) c.1360C>G (p.His454Asp) | |
1 | g.114677478G>T | CA341748696 | AMPD1 | c.1249C>A (p.His417Asn) c.1261C>A (p.His421Asn) c.1044C>A (n.1044C>A) n.926C>A c.1348C>A (p.His450Asn) c.1360C>A (p.His454Asn) | |
1 | g.114677479C>A | CA341748697 | AMPD1 | c.1248G>T (p.Gln416His) c.1260G>T (p.Gln420His) c.1043G>T (n.1043G>T) n.925G>T c.1347G>T (p.Gln449His) c.1359G>T (p.Gln453His) | |
1 | g.114677479C>G | CA341748698 | AMPD1 | c.1248G>C (p.Gln416His) c.1260G>C (p.Gln420His) c.1043G>C (n.1043G>C) n.925G>C c.1347G>C (p.Gln449His) c.1359G>C (p.Gln453His) | |
1 | g.114677479C>T | CA419883051 | AMPD1 | c.1248G>A (p.Gln416=) c.1260G>A (p.Gln420=) c.1043G>A (n.1043G>A) n.925G>A c.1347G>A (p.Gln449=) c.1359G>A (p.Gln453=) | |
1 | g.114677480T>A | CA341748699 | AMPD1 | c.1247A>T (p.Gln416Leu) c.1259A>T (p.Gln420Leu) c.1042A>T (n.1042A>T) n.924A>T c.1346A>T (p.Gln449Leu) c.1358A>T (p.Gln453Leu) | |
1 | g.114677480T>C | CA341748700 | AMPD1 | c.1247A>G (p.Gln416Arg) c.1259A>G (p.Gln420Arg) c.1042A>G (n.1042A>G) n.924A>G c.1346A>G (p.Gln449Arg) c.1358A>G (p.Gln453Arg) | ClinVar dbSNP gnomAD v4 |
1 | g.114677480T>G | CA341748701 | AMPD1 | c.1247A>C (p.Gln416Pro) c.1259A>C (p.Gln420Pro) c.1042A>C (n.1042A>C) n.924A>C c.1346A>C (p.Gln449Pro) c.1358A>C (p.Gln453Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.114677480T= | CA1190276314 | AMPD1 | c.1247A= (p.Gln416=) c.1259A= (p.Gln420=) c.1042A= (n.1042A=) n.924A= c.1346A= (p.Gln449=) c.1358A= (p.Gln453=) | |
1 | g.114677481G>A | CA1020165 | AMPD1 | c.1246C>T (p.Gln416Ter) c.1258C>T (p.Gln420Ter) c.1041C>T (n.1041C>T) n.923C>T c.1345C>T (p.Gln449Ter) c.1357C>T (p.Gln453Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.114677481G>C | CA341748702 | AMPD1 | c.1246C>G (p.Gln416Glu) c.1258C>G (p.Gln420Glu) c.1041C>G (n.1041C>G) n.923C>G c.1345C>G (p.Gln449Glu) c.1357C>G (p.Gln453Glu) | |
1 | g.114677481G= | CA1190276315 | AMPD1 | c.1246C= (p.Gln416=) c.1258C= (p.Gln420=) c.1041C= (n.1041C=) n.923C= c.1345C= (p.Gln449=) c.1357C= (p.Gln453=) | |
1 | g.114677481G>T | CA341748703 | AMPD1 | c.1246C>A (p.Gln416Lys) c.1258C>A (p.Gln420Lys) c.1041C>A (n.1041C>A) n.923C>A c.1345C>A (p.Gln449Lys) c.1357C>A (p.Gln453Lys) | |
1 | g.114677482G>A | CA419883052 | AMPD1 | c.1245C>T (p.Tyr415=) c.1257C>T (p.Tyr419=) c.1040C>T (n.1040C>T) n.922C>T c.1344C>T (p.Tyr448=) c.1356C>T (p.Tyr452=) | |
1 | g.114677482G>C | CA341748704 | AMPD1 | c.1245C>G (p.Tyr415Ter) c.1257C>G (p.Tyr419Ter) c.1040C>G (n.1040C>G) n.922C>G c.1344C>G (p.Tyr448Ter) c.1356C>G (p.Tyr452Ter) | gnomAD v4 |
1 | g.114677482G>T | CA341748705 | AMPD1 | c.1245C>A (p.Tyr415Ter) c.1257C>A (p.Tyr419Ter) c.1040C>A (n.1040C>A) n.922C>A c.1344C>A (p.Tyr448Ter) c.1356C>A (p.Tyr452Ter) | |
1 | g.114677483T>A | CA1020166 | AMPD1 | c.1244A>T (p.Tyr415Phe) c.1256A>T (p.Tyr419Phe) c.1039A>T (n.1039A>T) n.921A>T c.1343A>T (p.Tyr448Phe) c.1355A>T (p.Tyr452Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.114677483T>C | CA341748707 | AMPD1 | c.1244A>G (p.Tyr415Cys) c.1256A>G (p.Tyr419Cys) c.1039A>G (n.1039A>G) n.921A>G c.1343A>G (p.Tyr448Cys) c.1355A>G (p.Tyr452Cys) | |
1 | g.114677483T>G | CA341748706 | AMPD1 | c.1244A>C (p.Tyr415Ser) c.1256A>C (p.Tyr419Ser) c.1039A>C (n.1039A>C) n.921A>C c.1343A>C (p.Tyr448Ser) c.1355A>C (p.Tyr452Ser) | |
1 | g.114677483T= | CA1190276316 | AMPD1 | c.1244A= (p.Tyr415=) c.1256A= (p.Tyr419=) c.1039A= (n.1039A=) n.921A= c.1343A= (p.Tyr448=) c.1355A= (p.Tyr452=) | |
1 | g.114677484A>C | CA341748708 | AMPD1 | c.1243T>G (p.Tyr415Asp) c.1255T>G (p.Tyr419Asp) c.1038T>G (n.1038T>G) n.920T>G c.1342T>G (p.Tyr448Asp) c.1354T>G (p.Tyr452Asp) | |
1 | g.114677484A>G | CA341748709 | AMPD1 | c.1243T>C (p.Tyr415His) c.1255T>C (p.Tyr419His) c.1038T>C (n.1038T>C) n.920T>C c.1342T>C (p.Tyr448His) c.1354T>C (p.Tyr452His) | gnomAD v4 |
1 | g.114677484A>T | CA341748710 | AMPD1 | c.1243T>A (p.Tyr415Asn) c.1255T>A (p.Tyr419Asn) c.1038T>A (n.1038T>A) n.920T>A c.1342T>A (p.Tyr448Asn) c.1354T>A (p.Tyr452Asn) | |
1 | g.114677485C>A | CA341748711 | AMPD1 | c.1242G>T (p.Lys414Asn) c.1254G>T (p.Lys418Asn) c.1037G>T (n.1037G>T) n.919G>T c.1341G>T (p.Lys447Asn) c.1353G>T (p.Lys451Asn) | |
1 | g.114677485C= | CA1190276317 | AMPD1 | c.1242G= (p.Lys414=) c.1254G= (p.Lys418=) c.1037G= (n.1037G=) n.919G= c.1341G= (p.Lys447=) c.1353G= (p.Lys451=) | |
1 | g.114677485C>G | CA29054682 | AMPD1 | c.1242G>C (p.Lys414Asn) c.1254G>C (p.Lys418Asn) c.1037G>C (n.1037G>C) n.919G>C c.1341G>C (p.Lys447Asn) c.1353G>C (p.Lys451Asn) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.114677485C>T | CA419883053 | AMPD1 | c.1242G>A (p.Lys414=) c.1254G>A (p.Lys418=) c.1037G>A (n.1037G>A) n.919G>A c.1341G>A (p.Lys447=) c.1353G>A (p.Lys451=) | gnomAD v4 |
1 | g.114677486T>A | CA341748712 | AMPD1 | c.1241A>T (p.Lys414Met) c.1253A>T (p.Lys418Met) c.1036A>T (n.1036A>T) n.918A>T c.1340A>T (p.Lys447Met) c.1352A>T (p.Lys451Met) | |
1 | g.114677486T>C | CA341748713 | AMPD1 | c.1241A>G (p.Lys414Arg) c.1253A>G (p.Lys418Arg) c.1036A>G (n.1036A>G) n.918A>G c.1340A>G (p.Lys447Arg) c.1352A>G (p.Lys451Arg) | |
1 | g.114677486T>G | CA341748714 | AMPD1 | c.1241A>C (p.Lys414Thr) c.1253A>C (p.Lys418Thr) c.1036A>C (n.1036A>C) n.918A>C c.1340A>C (p.Lys447Thr) c.1352A>C (p.Lys451Thr) | |
1 | g.114677487T>A | CA341748715 | AMPD1 | c.1240A>T (p.Lys414Ter) c.1252A>T (p.Lys418Ter) c.1035A>T (n.1035A>T) n.917A>T c.1339A>T (p.Lys447Ter) c.1351A>T (p.Lys451Ter) | |
1 | g.114677487T>C | CA1020167 | AMPD1 | c.1240A>G (p.Lys414Glu) c.1252A>G (p.Lys418Glu) c.1035A>G (n.1035A>G) n.917A>G c.1339A>G (p.Lys447Glu) c.1351A>G (p.Lys451Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.114677487T>G | CA341748716 | AMPD1 | c.1240A>C (p.Lys414Gln) c.1252A>C (p.Lys418Gln) c.1035A>C (n.1035A>C) n.917A>C c.1339A>C (p.Lys447Gln) c.1351A>C (p.Lys451Gln) | |
1 | g.114677487T= | CA1148726820 | AMPD1 | c.1240A= (p.Lys414=) c.1252A= (p.Lys418=) c.1035A= (n.1035A=) n.917A= c.1339A= (p.Lys447=) c.1351A= (p.Lys451=) | |
1 | g.114677488G>A | CA419883054 | AMPD1 | c.1239C>T (p.Ala413=) c.1251C>T (p.Ala417=) c.1034C>T (n.1034C>T) n.916C>T c.1338C>T (p.Ala446=) c.1350C>T (p.Ala450=) | |
1 | g.114677488G>C | CA419883055 | AMPD1 | c.1239C>G (p.Ala413=) c.1251C>G (p.Ala417=) c.1034C>G (n.1034C>G) n.916C>G c.1338C>G (p.Ala446=) c.1350C>G (p.Ala450=) | |
1 | g.114677488G>T | CA419883056 | AMPD1 | c.1239C>A (p.Ala413=) c.1251C>A (p.Ala417=) c.1034C>A (n.1034C>A) n.916C>A c.1338C>A (p.Ala446=) c.1350C>A (p.Ala450=) | |
1 | g.114677489G>A | CA341748717 | AMPD1 | c.1238C>T (p.Ala413Val) c.1250C>T (p.Ala417Val) c.1033C>T (n.1033C>T) n.915C>T c.1337C>T (p.Ala446Val) c.1349C>T (p.Ala450Val) | |
1 | g.114677489G>C | CA341748718 | AMPD1 | c.1238C>G (p.Ala413Gly) c.1250C>G (p.Ala417Gly) c.1033C>G (n.1033C>G) n.915C>G c.1337C>G (p.Ala446Gly) c.1349C>G (p.Ala450Gly) | |
1 | g.114677489G>T | CA341748719 | AMPD1 | c.1238C>A (p.Ala413Asp) c.1250C>A (p.Ala417Asp) c.1033C>A (n.1033C>A) n.915C>A c.1337C>A (p.Ala446Asp) c.1349C>A (p.Ala450Asp) | |
1 | g.114677490C>A | CA341748720 | AMPD1 | c.1237G>T (p.Ala413Ser) c.1249G>T (p.Ala417Ser) c.1032G>T (n.1032G>T) n.914G>T c.1336G>T (p.Ala446Ser) c.1348G>T (p.Ala450Ser) | |
1 | g.114677490C= | CA1190276318 | AMPD1 | c.1237G= (p.Ala413=) c.1249G= (p.Ala417=) c.1032G= (n.1032G=) n.914G= c.1336G= (p.Ala446=) c.1348G= (p.Ala450=) | |
1 | g.114677490C>G | CA341748721 | AMPD1 | c.1237G>C (p.Ala413Pro) c.1249G>C (p.Ala417Pro) c.1032G>C (n.1032G>C) n.914G>C c.1336G>C (p.Ala446Pro) c.1348G>C (p.Ala450Pro) | |
1 | g.114677490C>T | CA1020168 | AMPD1 | c.1237G>A (p.Ala413Thr) c.1249G>A (p.Ala417Thr) c.1032G>A (n.1032G>A) n.914G>A c.1336G>A (p.Ala446Thr) c.1348G>A (p.Ala450Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.114677491C>A | CA341748723 | AMPD1 | c.1236G>T (p.Glu412Asp) c.1248G>T (p.Glu416Asp) c.1031G>T (n.1031G>T) n.913G>T c.1335G>T (p.Glu445Asp) c.1347G>T (p.Glu449Asp) | |
1 | g.114677491C>G | CA341748722 | AMPD1 | c.1236G>C (p.Glu412Asp) c.1248G>C (p.Glu416Asp) c.1031G>C (n.1031G>C) n.913G>C c.1335G>C (p.Glu445Asp) c.1347G>C (p.Glu449Asp) | |
1 | g.114677491C>T | CA419883057 | AMPD1 | c.1236G>A (p.Glu412=) c.1248G>A (p.Glu416=) c.1031G>A (n.1031G>A) n.913G>A c.1335G>A (p.Glu445=) c.1347G>A (p.Glu449=) | gnomAD v4 |
1 | g.114677492T>A | CA341748725 | AMPD1 | c.1235A>T (p.Glu412Val) c.1247A>T (p.Glu416Val) c.1030A>T (n.1030A>T) n.912A>T c.1334A>T (p.Glu445Val) c.1346A>T (p.Glu449Val) | |
1 | g.114677492T>C | CA341748724 | AMPD1 | c.1235A>G (p.Glu412Gly) c.1247A>G (p.Glu416Gly) c.1030A>G (n.1030A>G) n.912A>G c.1334A>G (p.Glu445Gly) c.1346A>G (p.Glu449Gly) | |
1 | g.114677492T>G | CA341748726 | AMPD1 | c.1235A>C (p.Glu412Ala) c.1247A>C (p.Glu416Ala) c.1030A>C (n.1030A>C) n.912A>C c.1334A>C (p.Glu445Ala) c.1346A>C (p.Glu449Ala) | |
1 | g.114677493C>A | CA341748727 | AMPD1 | c.1234G>T (p.Glu412Ter) c.1246G>T (p.Glu416Ter) c.1029G>T (n.1029G>T) n.911G>T c.1333G>T (p.Glu445Ter) c.1345G>T (p.Glu449Ter) | |
1 | g.114677493C>G | CA341748729 | AMPD1 | c.1234G>C (p.Glu412Gln) c.1246G>C (p.Glu416Gln) c.1029G>C (n.1029G>C) n.911G>C c.1333G>C (p.Glu445Gln) c.1345G>C (p.Glu449Gln) | |
1 | g.114677493C>T | CA341748728 | AMPD1 | c.1234G>A (p.Glu412Lys) c.1246G>A (p.Glu416Lys) c.1029G>A (n.1029G>A) n.911G>A c.1333G>A (p.Glu445Lys) c.1345G>A (p.Glu449Lys) | |
1 | g.114677494C>A | CA419883058 | AMPD1 | c.1233G>T (p.Val411=) c.1245G>T (p.Val415=) c.1028G>T (n.1028G>T) n.910G>T c.1332G>T (p.Val444=) c.1344G>T (p.Val448=) | |
1 | g.114677494C>G | CA419883059 | AMPD1 | c.1233G>C (p.Val411=) c.1245G>C (p.Val415=) c.1028G>C (n.1028G>C) n.910G>C c.1332G>C (p.Val444=) c.1344G>C (p.Val448=) | |
1 | g.114677494C>T | CA419883060 | AMPD1 | c.1233G>A (p.Val411=) c.1245G>A (p.Val415=) c.1028G>A (n.1028G>A) n.910G>A c.1332G>A (p.Val444=) c.1344G>A (p.Val448=) | gnomAD v4 |
1 | g.114677495A>C | CA341748730 | AMPD1 | c.1232T>G (p.Val411Gly) c.1244T>G (p.Val415Gly) c.1027T>G (n.1027T>G) n.909T>G c.1331T>G (p.Val444Gly) c.1343T>G (p.Val448Gly) | |
1 | g.114677495A>G | CA341748731 | AMPD1 | c.1232T>C (p.Val411Ala) c.1244T>C (p.Val415Ala) c.1027T>C (n.1027T>C) n.909T>C c.1331T>C (p.Val444Ala) c.1343T>C (p.Val448Ala) | |
1 | g.114677495A>T | CA341748732 | AMPD1 | c.1232T>A (p.Val411Glu) c.1244T>A (p.Val415Glu) c.1027T>A (n.1027T>A) n.909T>A c.1331T>A (p.Val444Glu) c.1343T>A (p.Val448Glu) | |
1 | g.114677496C>A | CA341748733 | AMPD1 | c.1231G>T (p.Val411Leu) c.1243G>T (p.Val415Leu) c.1026G>T (n.1026G>T) n.908G>T c.1330G>T (p.Val444Leu) c.1342G>T (p.Val448Leu) | |
1 | g.114677496C>G | CA341748734 | AMPD1 | c.1231G>C (p.Val411Leu) c.1243G>C (p.Val415Leu) c.1026G>C (n.1026G>C) n.908G>C c.1330G>C (p.Val444Leu) c.1342G>C (p.Val448Leu) | |
1 | g.114677496C>T | CA341748735 | AMPD1 | c.1231G>A (p.Val411Met) c.1243G>A (p.Val415Met) c.1026G>A (n.1026G>A) n.908G>A c.1330G>A (p.Val444Met) c.1342G>A (p.Val448Met) | |
1 | g.114677497C>A | CA419883061 | AMPD1 | c.1230G>T (p.Leu410=) c.1242G>T (p.Leu414=) c.1025G>T (n.1025G>T) n.907G>T c.1329G>T (p.Leu443=) c.1341G>T (p.Leu447=) | |
1 | g.114677497C= | CA1190276319 | AMPD1 | c.1230G= (p.Leu410=) c.1242G= (p.Leu414=) c.1025G= (n.1025G=) n.907G= c.1329G= (p.Leu443=) c.1341G= (p.Leu447=) | |
1 | g.114677497C>G | CA419883062 | AMPD1 | c.1230G>C (p.Leu410=) c.1242G>C (p.Leu414=) c.1025G>C (n.1025G>C) n.907G>C c.1329G>C (p.Leu443=) c.1341G>C (p.Leu447=) | |
1 | g.114677497C>T | CA1020169 | AMPD1 | c.1230G>A (p.Leu410=) c.1242G>A (p.Leu414=) c.1025G>A (n.1025G>A) n.907G>A c.1329G>A (p.Leu443=) c.1341G>A (p.Leu447=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.114677498A= | CA1190276320 | AMPD1 | c.1229T= (p.Leu410=) c.1241T= (p.Leu414=) c.1024T= (n.1024T=) n.906T= c.1328T= (p.Leu443=) c.1340T= (p.Leu447=) | |
1 | g.114677498A>C | CA341748736 | AMPD1 | c.1229T>G (p.Leu410Arg) c.1241T>G (p.Leu414Arg) c.1024T>G (n.1024T>G) n.906T>G c.1328T>G (p.Leu443Arg) c.1340T>G (p.Leu447Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.114677498A>G | CA341748737 | AMPD1 | c.1229T>C (p.Leu410Pro) c.1241T>C (p.Leu414Pro) c.1024T>C (n.1024T>C) n.906T>C c.1328T>C (p.Leu443Pro) c.1340T>C (p.Leu447Pro) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.114677498A>T | CA341748738 | AMPD1 | c.1229T>A (p.Leu410Gln) c.1241T>A (p.Leu414Gln) c.1024T>A (n.1024T>A) n.906T>A c.1328T>A (p.Leu443Gln) c.1340T>A (p.Leu447Gln) | |
1 | g.114677499G>A | CA419883063 | AMPD1 | c.1228C>T (p.Leu410=) c.1240C>T (p.Leu414=) c.1023C>T (n.1023C>T) n.905C>T c.1327C>T (p.Leu443=) c.1339C>T (p.Leu447=) | dbSNP COSMIC COSMIC |
1 | g.114677499G>C | CA341748739 | AMPD1 | c.1228C>G (p.Leu410Val) c.1240C>G (p.Leu414Val) c.1023C>G (n.1023C>G) n.905C>G c.1327C>G (p.Leu443Val) c.1339C>G (p.Leu447Val) | |
1 | g.114677499G= | CA1190276321 | AMPD1 | c.1228C= (p.Leu410=) c.1240C= (p.Leu414=) c.1023C= (n.1023C=) n.905C= c.1327C= (p.Leu443=) c.1339C= (p.Leu447=) | |
1 | g.114677499G>T | CA341748740 | AMPD1 | c.1228C>A (p.Leu410Met) c.1240C>A (p.Leu414Met) c.1023C>A (n.1023C>A) n.905C>A c.1327C>A (p.Leu443Met) c.1339C>A (p.Leu447Met) | |
1 | g.114677500G>A | CA419883064 | AMPD1 | c.1227C>T (p.Asp409=) c.1239C>T (p.Asp413=) c.1022C>T (n.1022C>T) n.904C>T c.1326C>T (p.Asp442=) c.1338C>T (p.Asp446=) | |
1 | g.114677500G>C | CA341748741 | AMPD1 | c.1227C>G (p.Asp409Glu) c.1239C>G (p.Asp413Glu) c.1022C>G (n.1022C>G) n.904C>G c.1326C>G (p.Asp442Glu) c.1338C>G (p.Asp446Glu) | |
1 | g.114677500G>T | CA341748742 | AMPD1 | c.1227C>A (p.Asp409Glu) c.1239C>A (p.Asp413Glu) c.1022C>A (n.1022C>A) n.904C>A c.1326C>A (p.Asp442Glu) c.1338C>A (p.Asp446Glu) | |
1 | g.114677501T>A | CA341748743 | AMPD1 | c.1226A>T (p.Asp409Val) c.1238A>T (p.Asp413Val) c.1021A>T (n.1021A>T) n.903A>T c.1325A>T (p.Asp442Val) c.1337A>T (p.Asp446Val) | |
1 | g.114677501T>C | CA341748744 | AMPD1 | c.1226A>G (p.Asp409Gly) c.1238A>G (p.Asp413Gly) c.1021A>G (n.1021A>G) n.903A>G c.1325A>G (p.Asp442Gly) c.1337A>G (p.Asp446Gly) | |
1 | g.114677501T>G | CA341748745 | AMPD1 | c.1226A>C (p.Asp409Ala) c.1238A>C (p.Asp413Ala) c.1021A>C (n.1021A>C) n.903A>C c.1325A>C (p.Asp442Ala) c.1337A>C (p.Asp446Ala) | |
1 | g.114677502C>A | CA341748746 | AMPD1 | c.1225G>T (p.Asp409Tyr) c.1237G>T (p.Asp413Tyr) c.1020G>T (n.1020G>T) n.902G>T c.1324G>T (p.Asp442Tyr) c.1336G>T (p.Asp446Tyr) | |
1 | g.114677502C>G | CA341748747 | AMPD1 | c.1225G>C (p.Asp409His) c.1237G>C (p.Asp413His) c.1020G>C (n.1020G>C) n.902G>C c.1324G>C (p.Asp442His) c.1336G>C (p.Asp446His) | |
1 | g.114677502C>T | CA341748748 | AMPD1 | c.1225G>A (p.Asp409Asn) c.1237G>A (p.Asp413Asn) c.1020G>A (n.1020G>A) n.902G>A c.1324G>A (p.Asp442Asn) c.1336G>A (p.Asp446Asn) | |
1 | g.114677502_114677504delinsCCG | CA1190276322 | AMPD1 | c.1223_1225delinsCGG (p.Ala408=) c.1235_1237delinsCGG (p.Ala412=) c.1018_1020delinsCGG (n.1018_1020delinsCGG) n.900_902delinsCGG c.1322_1324delinsCGG (p.Ala441=) c.1334_1336delinsCGG (p.Ala445=) | |
1 | g.114677503C>A | CA419883065 | AMPD1 | c.1224G>T (p.Ala408=) c.1236G>T (p.Ala412=) c.1019G>T (n.1019G>T) n.901G>T c.1323G>T (p.Ala441=) c.1335G>T (p.Ala445=) | |
1 | g.114677503C= | CA1141829172 | AMPD1 | c.1224G= (p.Ala408=) c.1236G= (p.Ala412=) c.1019G= (n.1019G=) n.901G= c.1323G= (p.Ala441=) c.1335G= (p.Ala445=) | |
1 | g.114677503C>G | CA419883066 | AMPD1 | c.1224G>C (p.Ala408=) c.1236G>C (p.Ala412=) c.1019G>C (n.1019G>C) n.901G>C c.1323G>C (p.Ala441=) c.1335G>C (p.Ala445=) | dbSNP |
1 | g.114677503C>T | CA1020170 | AMPD1 | c.1224G>A (p.Ala408=) c.1236G>A (p.Ala412=) c.1019G>A (n.1019G>A) n.901G>A c.1323G>A (p.Ala441=) c.1335G>A (p.Ala445=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.114677504_114677505del | CA525630870 | AMPD1 | c.1223_1224del (p.Ala408GlyfsTer11) c.1235_1236del (p.Ala412GlyfsTer11) c.1018_1019del (n.1018_1019del) n.900_901del c.1322_1323del (p.Ala441GlyfsTer11) c.1334_1335del (p.Ala445GlyfsTer11) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.114677504G>A | CA1020171 | AMPD1 | c.1223C>T (p.Ala408Val) c.1235C>T (p.Ala412Val) c.1018C>T (n.1018C>T) n.900C>T c.1322C>T (p.Ala441Val) c.1334C>T (p.Ala445Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.114677504G>C | CA341748749 | AMPD1 | c.1223C>G (p.Ala408Gly) c.1235C>G (p.Ala412Gly) c.1018C>G (n.1018C>G) n.900C>G c.1322C>G (p.Ala441Gly) c.1334C>G (p.Ala445Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.114677504G= | CA1190276323 | AMPD1 | c.1223C= (p.Ala408=) c.1235C= (p.Ala412=) c.1018C= (n.1018C=) n.900C= c.1322C= (p.Ala441=) c.1334C= (p.Ala445=) | |
1 | g.114677504G>T | CA1020172 | AMPD1 | c.1223C>A (p.Ala408Glu) c.1235C>A (p.Ala412Glu) c.1018C>A (n.1018C>A) n.900C>A c.1322C>A (p.Ala441Glu) c.1334C>A (p.Ala445Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.114677505C>A | CA341748751 | AMPD1 | c.1222G>T (p.Ala408Ser) c.1234G>T (p.Ala412Ser) c.1017G>T (n.1017G>T) n.899G>T c.1321G>T (p.Ala441Ser) c.1333G>T (p.Ala445Ser) | |
1 | g.114677505C>G | CA341748752 | AMPD1 | c.1222G>C (p.Ala408Pro) c.1234G>C (p.Ala412Pro) c.1017G>C (n.1017G>C) n.899G>C c.1321G>C (p.Ala441Pro) c.1333G>C (p.Ala445Pro) | |
1 | g.114677505C>T | CA341748750 | AMPD1 | c.1222G>A (p.Ala408Thr) c.1234G>A (p.Ala412Thr) c.1017G>A (n.1017G>A) n.899G>A c.1321G>A (p.Ala441Thr) c.1333G>A (p.Ala445Thr) | |
1 | g.114677506A>C | CA419883067 | AMPD1 | c.1221T>G (p.Gly407=) c.1233T>G (p.Gly411=) c.1016T>G (n.1016T>G) n.898T>G c.1320T>G (p.Gly440=) c.1332T>G (p.Gly444=) | |
1 | g.114677506A>G | CA419883068 | AMPD1 | c.1221T>C (p.Gly407=) c.1233T>C (p.Gly411=) c.1016T>C (n.1016T>C) n.898T>C c.1320T>C (p.Gly440=) c.1332T>C (p.Gly444=) | |
1 | g.114677506A>T | CA419883069 | AMPD1 | c.1221T>A (p.Gly407=) c.1233T>A (p.Gly411=) c.1016T>A (n.1016T>A) n.898T>A c.1320T>A (p.Gly440=) c.1332T>A (p.Gly444=) | |
1 | g.114677507C>A | CA341748753 | AMPD1 | c.1220G>T (p.Gly407Val) c.1232G>T (p.Gly411Val) c.1015G>T (n.1015G>T) n.897G>T c.1319G>T (p.Gly440Val) c.1331G>T (p.Gly444Val) | |
1 | g.114677507C= | CA1142310713 | AMPD1 | c.1220G= (p.Gly407=) c.1232G= (p.Gly411=) c.1015G= (n.1015G=) n.897G= c.1319G= (p.Gly440=) c.1331G= (p.Gly444=) | |
1 | g.114677507C>G | CA341748754 | AMPD1 | c.1220G>C (p.Gly407Ala) c.1232G>C (p.Gly411Ala) c.1015G>C (n.1015G>C) n.897G>C c.1319G>C (p.Gly440Ala) c.1331G>C (p.Gly444Ala) | |
1 | g.114677507C>T | CA29054739 | AMPD1 | c.1220G>A (p.Gly407Asp) c.1232G>A (p.Gly411Asp) c.1015G>A (n.1015G>A) n.897G>A c.1319G>A (p.Gly440Asp) c.1331G>A (p.Gly444Asp) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.114677508C>A | CA341748755 | AMPD1 | c.1219G>T (p.Gly407Cys) c.1231G>T (p.Gly411Cys) c.1014G>T (n.1014G>T) n.896G>T c.1318G>T (p.Gly440Cys) c.1330G>T (p.Gly444Cys) | |
1 | g.114677508C>G | CA341748756 | AMPD1 | c.1219G>C (p.Gly407Arg) c.1231G>C (p.Gly411Arg) c.1014G>C (n.1014G>C) n.896G>C c.1318G>C (p.Gly440Arg) c.1330G>C (p.Gly444Arg) | |
1 | g.114677508C>T | CA341748757 | AMPD1 | c.1219G>A (p.Gly407Ser) c.1231G>A (p.Gly411Ser) c.1014G>A (n.1014G>A) n.896G>A c.1318G>A (p.Gly440Ser) c.1330G>A (p.Gly444Ser) | gnomAD v4 |
1 | g.114677509T>A | CA419883070 | AMPD1 | c.1218A>T (p.Val406=) c.1230A>T (p.Val410=) c.1013A>T (n.1013A>T) n.895A>T c.1317A>T (p.Val439=) c.1329A>T (p.Val443=) | |
1 | g.114677509T>C | CA419883071 | AMPD1 | c.1218A>G (p.Val406=) c.1230A>G (p.Val410=) c.1013A>G (n.1013A>G) n.895A>G c.1317A>G (p.Val439=) c.1329A>G (p.Val443=) | |
1 | g.114677509T>G | CA419883072 | AMPD1 | c.1218A>C (p.Val406=) c.1230A>C (p.Val410=) c.1013A>C (n.1013A>C) n.895A>C c.1317A>C (p.Val439=) c.1329A>C (p.Val443=) | |
1 | g.114677510A= | CA1190276324 | AMPD1 | c.1217T= (p.Val406=) c.1229T= (p.Val410=) c.1012T= (n.1012T=) n.894T= c.1316T= (p.Val439=) c.1328T= (p.Val443=) | |
1 | g.114677510A>C | CA341748758 | AMPD1 | c.1217T>G (p.Val406Gly) c.1229T>G (p.Val410Gly) c.1012T>G (n.1012T>G) n.894T>G c.1316T>G (p.Val439Gly) c.1328T>G (p.Val443Gly) | dbSNP gnomAD v2 |
1 | g.114677510A>G | CA341748759 | AMPD1 | c.1217T>C (p.Val406Ala) c.1229T>C (p.Val410Ala) c.1012T>C (n.1012T>C) n.894T>C c.1316T>C (p.Val439Ala) c.1328T>C (p.Val443Ala) | gnomAD v4 |
1 | g.114677510A>T | CA341748760 | AMPD1 | c.1217T>A (p.Val406Glu) c.1229T>A (p.Val410Glu) c.1012T>A (n.1012T>A) n.894T>A c.1316T>A (p.Val439Glu) c.1328T>A (p.Val443Glu) |