Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.99600668G>A | CA3022042 | MTTP | c.1171G>A (p.Glu391Lys) c.922G>A (p.Glu308Lys) c.1252G>A (p.Glu418Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99600668G>C | CA357508388 | MTTP | c.1171G>C (p.Glu391Gln) c.922G>C (p.Glu308Gln) c.1252G>C (p.Glu418Gln) | |
4 | g.99600668G= | CA1480079179 | MTTP | c.1171G= (p.Glu391=) c.922G= (p.Glu308=) c.1252G= (p.Glu418=) | |
4 | g.99600668G>T | CA357508390 | MTTP | c.1171G>T (p.Glu391Ter) c.922G>T (p.Glu308Ter) c.1252G>T (p.Glu418Ter) | |
4 | g.99600669A>C | CA357508393 | MTTP | c.1172A>C (p.Glu391Ala) c.923A>C (p.Glu308Ala) c.1253A>C (p.Glu418Ala) | |
4 | g.99600669A>G | CA357508395 | MTTP | c.1172A>G (p.Glu391Gly) c.923A>G (p.Glu308Gly) c.1253A>G (p.Glu418Gly) | |
4 | g.99600669A>T | CA357508397 | MTTP | c.1172A>T (p.Glu391Val) c.923A>T (p.Glu308Val) c.1253A>T (p.Glu418Val) | |
4 | g.99600670G>A | CA3022043 | MTTP | c.1173G>A (p.Glu391=) c.924G>A (p.Glu308=) c.1254G>A (p.Glu418=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99600670G>C | CA357508403 | MTTP | c.1173G>C (p.Glu391Asp) c.924G>C (p.Glu308Asp) c.1254G>C (p.Glu418Asp) | |
4 | g.99600670G= | CA1480079180 | MTTP | c.1173G= (p.Glu391=) c.924G= (p.Glu308=) c.1254G= (p.Glu418=) | |
4 | g.99600670G>T | CA357508400 | MTTP | c.1173G>T (p.Glu391Asp) c.924G>T (p.Glu308Asp) c.1254G>T (p.Glu418Asp) | |
4 | g.99600671A= | CA1480079181 | MTTP | c.1174A= (p.Arg392=) c.925A= (p.Arg309=) c.1255A= (p.Arg419=) | |
4 | g.99600671A>C | CA440330023 | MTTP | c.1174A>C (p.Arg392=) c.925A>C (p.Arg309=) c.1255A>C (p.Arg419=) | |
4 | g.99600671A>G | CA357508406 | MTTP | c.1174A>G (p.Arg392Gly) c.925A>G (p.Arg309Gly) c.1255A>G (p.Arg419Gly) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.99600671A>T | CA357508409 | MTTP | c.1174A>T (p.Arg392Trp) c.925A>T (p.Arg309Trp) c.1255A>T (p.Arg419Trp) | |
4 | g.99600672G>A | CA357508416 | MTTP | c.1175G>A (p.Arg392Lys) c.926G>A (p.Arg309Lys) c.1256G>A (p.Arg419Lys) | |
4 | g.99600672G>C | CA357508421 | MTTP | c.1175G>C (p.Arg392Thr) c.926G>C (p.Arg309Thr) c.1256G>C (p.Arg419Thr) | |
4 | g.99600672G>T | CA357508419 | MTTP | c.1175G>T (p.Arg392Met) c.926G>T (p.Arg309Met) c.1256G>T (p.Arg419Met) | |
4 | g.99600673G>A | CA440330024 | MTTP | c.1176G>A (p.Arg392=) c.927G>A (p.Arg309=) c.1257G>A (p.Arg419=) | ClinVar |
4 | g.99600673G>C | CA357508424 | MTTP | c.1176G>C (p.Arg392Ser) c.927G>C (p.Arg309Ser) c.1257G>C (p.Arg419Ser) | |
4 | g.99600673G>T | CA357508426 | MTTP | c.1176G>T (p.Arg392Ser) c.927G>T (p.Arg309Ser) c.1257G>T (p.Arg419Ser) | |
4 | g.99600674T>A | CA357508435 | MTTP | c.1177T>A (p.Phe393Ile) c.928T>A (p.Phe310Ile) c.1258T>A (p.Phe420Ile) | |
4 | g.99600674T>C | CA357508438 | MTTP | c.1177T>C (p.Phe393Leu) c.928T>C (p.Phe310Leu) c.1258T>C (p.Phe420Leu) | |
4 | g.99600674T>G | CA357508441 | MTTP | c.1177T>G (p.Phe393Val) c.928T>G (p.Phe310Val) c.1258T>G (p.Phe420Val) | |
4 | g.99600674_99600675insCTATAAAAAAAGGCATAATCATGGATATCAATG | CA2525882001 | MTTP | c.1177_1178insCTATAAAAAAAGGCATAATCATGGATATCAATG (p.Phe393delinsSerIleLysLysGlyIleIleMetAspIleAsnVal) c.928_929insCTATAAAAAAAGGCATAATCATGGATATCAATG (p.Phe310delinsSerIleLysLysGlyIleIleMetAspIleAsnVal) c.1258_1259insCTATAAAAAAAGGCATAATCATGGATATCAATG (p.Phe420delinsSerIleLysLysGlyIleIleMetAspIleAsnVal) | |
4 | g.99600675T>A | CA357508445 | MTTP | c.1178T>A (p.Phe393Tyr) c.929T>A (p.Phe310Tyr) c.1259T>A (p.Phe420Tyr) | |
4 | g.99600675T>C | CA357508448 | MTTP | c.1178T>C (p.Phe393Ser) c.929T>C (p.Phe310Ser) c.1259T>C (p.Phe420Ser) | |
4 | g.99600675T>G | CA357508452 | MTTP | c.1178T>G (p.Phe393Cys) c.929T>G (p.Phe310Cys) c.1259T>G (p.Phe420Cys) | |
4 | g.99600676T>A | CA357508456 | MTTP | c.1179T>A (p.Phe393Leu) c.930T>A (p.Phe310Leu) c.1260T>A (p.Phe420Leu) | |
4 | g.99600676T>C | CA440330025 | MTTP | c.1179T>C (p.Phe393=) c.930T>C (p.Phe310=) c.1260T>C (p.Phe420=) | ClinVar |
4 | g.99600676T>G | CA357508460 | MTTP | c.1179T>G (p.Phe393Leu) c.930T>G (p.Phe310Leu) c.1260T>G (p.Phe420Leu) | |
4 | g.99600677C>A | CA357508462 | MTTP | c.1180C>A (p.Leu394Ile) c.931C>A (p.Leu311Ile) c.1261C>A (p.Leu421Ile) | COSMIC |
4 | g.99600677C>G | CA357508464 | MTTP | c.1180C>G (p.Leu394Val) c.931C>G (p.Leu311Val) c.1261C>G (p.Leu421Val) | |
4 | g.99600677C>T | CA357508465 | MTTP | c.1180C>T (p.Leu394Phe) c.931C>T (p.Leu311Phe) c.1261C>T (p.Leu421Phe) | |
4 | g.99600678T>A | CA357508467 | MTTP | c.1181T>A (p.Leu394His) c.932T>A (p.Leu311His) c.1262T>A (p.Leu421His) | |
4 | g.99600678T>C | CA357508469 | MTTP | c.1181T>C (p.Leu394Pro) c.932T>C (p.Leu311Pro) c.1262T>C (p.Leu421Pro) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.99600678T>G | CA357508471 | MTTP | c.1181T>G (p.Leu394Arg) c.932T>G (p.Leu311Arg) c.1262T>G (p.Leu421Arg) | |
4 | g.99600678T= | CA1480079182 | MTTP | c.1181T= (p.Leu394=) c.932T= (p.Leu311=) c.1262T= (p.Leu421=) | |
4 | g.99600679C>A | CA440330026 | MTTP | c.1182C>A (p.Leu394=) c.933C>A (p.Leu311=) c.1263C>A (p.Leu421=) | |
4 | g.99600679C= | CA1480079183 | MTTP | c.1182C= (p.Leu394=) c.933C= (p.Leu311=) c.1263C= (p.Leu421=) | |
4 | g.99600679C>G | CA440330027 | MTTP | c.1182C>G (p.Leu394=) c.933C>G (p.Leu311=) c.1263C>G (p.Leu421=) | |
4 | g.99600679C>T | CA3022044 | MTTP | c.1182C>T (p.Leu394=) c.933C>T (p.Leu311=) c.1263C>T (p.Leu421=) | ClinVar dbSNP ExAC gnomAD v2 |
4 | g.99600680T>A | CA357508475 | MTTP | c.1183T>A (p.Tyr395Asn) c.934T>A (p.Tyr312Asn) c.1264T>A (p.Tyr422Asn) | |
4 | g.99600680T>C | CA357508476 | MTTP | c.1183T>C (p.Tyr395His) c.934T>C (p.Tyr312His) c.1264T>C (p.Tyr422His) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99600680T>G | CA357508478 | MTTP | c.1183T>G (p.Tyr395Asp) c.934T>G (p.Tyr312Asp) c.1264T>G (p.Tyr422Asp) | |
4 | g.99600680T= | CA1480079184 | MTTP | c.1183T= (p.Tyr395=) c.934T= (p.Tyr312=) c.1264T= (p.Tyr422=) | |
4 | g.99600681A>C | CA357508481 | MTTP | c.1184A>C (p.Tyr395Ser) c.935A>C (p.Tyr312Ser) c.1265A>C (p.Tyr422Ser) | |
4 | g.99600681A>G | CA357508482 | MTTP | c.1184A>G (p.Tyr395Cys) c.935A>G (p.Tyr312Cys) c.1265A>G (p.Tyr422Cys) | gnomAD v4 |
4 | g.99600681A>T | CA357508485 | MTTP | c.1184A>T (p.Tyr395Phe) c.935A>T (p.Tyr312Phe) c.1265A>T (p.Tyr422Phe) | |
4 | g.99600682T>A | CA357508487 | MTTP | c.1185T>A (p.Tyr395Ter) c.936T>A (p.Tyr312Ter) c.1266T>A (p.Tyr422Ter) | |
4 | g.99600682T>C | CA440330028 | MTTP | c.1185T>C (p.Tyr395=) c.936T>C (p.Tyr312=) c.1266T>C (p.Tyr422=) | ClinVar dbSNP |
4 | g.99600682T>G | CA357508489 | MTTP | c.1185T>G (p.Tyr395Ter) c.936T>G (p.Tyr312Ter) c.1266T>G (p.Tyr422Ter) | |
4 | g.99600683G>A | CA357508491 | MTTP | c.1186G>A (p.Ala396Thr) c.937G>A (p.Ala313Thr) c.1267G>A (p.Ala423Thr) | |
4 | g.99600683G>C | CA357508492 | MTTP | c.1186G>C (p.Ala396Pro) c.937G>C (p.Ala313Pro) c.1267G>C (p.Ala423Pro) | |
4 | g.99600683G>T | CA357508494 | MTTP | c.1186G>T (p.Ala396Ser) c.937G>T (p.Ala313Ser) c.1267G>T (p.Ala423Ser) | |
4 | g.99600684C>A | CA357508496 | MTTP | c.1187C>A (p.Ala396Asp) c.938C>A (p.Ala313Asp) c.1268C>A (p.Ala423Asp) | |
4 | g.99600684C>G | CA357508498 | MTTP | c.1187C>G (p.Ala396Gly) c.938C>G (p.Ala313Gly) c.1268C>G (p.Ala423Gly) | |
4 | g.99600684C>T | CA357508499 | MTTP | c.1187C>T (p.Ala396Val) c.938C>T (p.Ala313Val) c.1268C>T (p.Ala423Val) | |
4 | g.99600685C>A | CA440330029 | MTTP | c.1188C>A (p.Ala396=) c.939C>A (p.Ala313=) c.1269C>A (p.Ala423=) | |
4 | g.99600685C>G | CA440330031 | MTTP | c.1188C>G (p.Ala396=) c.939C>G (p.Ala313=) c.1269C>G (p.Ala423=) | |
4 | g.99600685C>T | CA440330033 | MTTP | c.1188C>T (p.Ala396=) c.939C>T (p.Ala313=) c.1269C>T (p.Ala423=) | |
4 | g.99600686T>A | CA357508503 | MTTP | c.1189T>A (p.Cys397Ser) c.940T>A (p.Cys314Ser) c.1270T>A (p.Cys424Ser) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.99600686T>C | CA357508507 | MTTP | c.1189T>C (p.Cys397Arg) c.940T>C (p.Cys314Arg) c.1270T>C (p.Cys424Arg) | gnomAD v4 |
4 | g.99600686T>G | CA357508504 | MTTP | c.1189T>G (p.Cys397Gly) c.940T>G (p.Cys314Gly) c.1270T>G (p.Cys424Gly) | |
4 | g.99600686T= | CA1480079185 | MTTP | c.1189T= (p.Cys397=) c.940T= (p.Cys314=) c.1270T= (p.Cys424=) | |
4 | g.99600687G>A | CA357508510 | MTTP | c.1190G>A (p.Cys397Tyr) c.941G>A (p.Cys314Tyr) c.1271G>A (p.Cys424Tyr) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99600687G>C | CA357508515 | MTTP | c.1190G>C (p.Cys397Ser) c.941G>C (p.Cys314Ser) c.1271G>C (p.Cys424Ser) | gnomAD v4 |
4 | g.99600687G= | CA1480079186 | MTTP | c.1190G= (p.Cys397=) c.941G= (p.Cys314=) c.1271G= (p.Cys424=) | |
4 | g.99600687G>T | CA357508517 | MTTP | c.1190G>T (p.Cys397Phe) c.941G>T (p.Cys314Phe) c.1271G>T (p.Cys424Phe) | |
4 | g.99600688T>A | CA357508519 | MTTP | c.1191T>A (p.Cys397Ter) c.942T>A (p.Cys314Ter) c.1272T>A (p.Cys424Ter) | |
4 | g.99600688T>C | CA440330036 | MTTP | c.1191T>C (p.Cys397=) c.942T>C (p.Cys314=) c.1272T>C (p.Cys424=) | |
4 | g.99600688T>G | CA357508522 | MTTP | c.1191T>G (p.Cys397Trp) c.942T>G (p.Cys314Trp) c.1272T>G (p.Cys424Trp) | |
4 | g.99600689G>A | CA357508527 | MTTP | c.1192G>A (p.Gly398Arg) c.943G>A (p.Gly315Arg) c.1273G>A (p.Gly425Arg) | |
4 | g.99600689G>C | CA357508525 | MTTP | c.1192G>C (p.Gly398Arg) c.943G>C (p.Gly315Arg) c.1273G>C (p.Gly425Arg) | |
4 | g.99600689G>T | CA357508523 | MTTP | c.1192G>T (p.Gly398Ter) c.943G>T (p.Gly315Ter) c.1273G>T (p.Gly425Ter) | |
4 | g.99600690G>A | CA357508529 | MTTP | c.1193G>A (p.Gly398Glu) c.944G>A (p.Gly315Glu) c.1274G>A (p.Gly425Glu) | |
4 | g.99600690G>C | CA357508530 | MTTP | c.1193G>C (p.Gly398Ala) c.944G>C (p.Gly315Ala) c.1274G>C (p.Gly425Ala) | gnomAD v4 COSMIC |
4 | g.99600690G>T | CA357508532 | MTTP | c.1193G>T (p.Gly398Val) c.944G>T (p.Gly315Val) c.1274G>T (p.Gly425Val) | |
4 | g.99600691A>C | CA440330038 | MTTP | c.1194A>C (p.Gly398=) c.945A>C (p.Gly315=) c.1275A>C (p.Gly425=) | |
4 | g.99600691A>G | CA440330039 | MTTP | c.1194A>G (p.Gly398=) c.945A>G (p.Gly315=) c.1275A>G (p.Gly425=) | |
4 | g.99600691A>T | CA440330040 | MTTP | c.1194A>T (p.Gly398=) c.945A>T (p.Gly315=) c.1275A>T (p.Gly425=) | |
4 | g.99600691_99600692delinsAT | CA1480079187 | MTTP | c.1194_1195delinsAT (p.Gly398=) c.945_946delinsAT (p.Gly315=) c.1275_1276delinsAT (p.Gly425=) | |
4 | g.99600692T>A | CA357508535 | MTTP | c.1195T>A (p.Phe399Ile) c.946T>A (p.Phe316Ile) c.1276T>A (p.Phe426Ile) | |
4 | g.99600692T>C | CA357508537 | MTTP | c.1195T>C (p.Phe399Leu) c.946T>C (p.Phe316Leu) c.1276T>C (p.Phe426Leu) | |
4 | g.99600692T>G | CA357508539 | MTTP | c.1195T>G (p.Phe399Val) c.946T>G (p.Phe316Val) c.1276T>G (p.Phe426Val) | |
4 | g.99600694del | CA553568413 | MTTP | c.1197del (p.Phe399LeufsTer10) c.948del (p.Phe316LeufsTer10) c.1278del (p.Phe426LeufsTer10) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.99600693T>A | CA357508540 | MTTP | c.1196T>A (p.Phe399Tyr) c.947T>A (p.Phe316Tyr) c.1277T>A (p.Phe426Tyr) | |
4 | g.99600693T>C | CA357508543 | MTTP | c.1196T>C (p.Phe399Ser) c.947T>C (p.Phe316Ser) c.1277T>C (p.Phe426Ser) | gnomAD v4 |
4 | g.99600693T>G | CA3022045 | MTTP | c.1196T>G (p.Phe399Cys) c.947T>G (p.Phe316Cys) c.1277T>G (p.Phe426Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99600693T= | CA1480079188 | MTTP | c.1196T= (p.Phe399=) c.947T= (p.Phe316=) c.1277T= (p.Phe426=) | |
4 | g.99600694T>A | CA357508545 | MTTP | c.1197T>A (p.Phe399Leu) c.948T>A (p.Phe316Leu) c.1278T>A (p.Phe426Leu) | |
4 | g.99600694T>C | CA440330042 | MTTP | c.1197T>C (p.Phe399=) c.948T>C (p.Phe316=) c.1278T>C (p.Phe426=) | |
4 | g.99600694T>G | CA357508547 | MTTP | c.1197T>G (p.Phe399Leu) c.948T>G (p.Phe316Leu) c.1278T>G (p.Phe426Leu) | |
4 | g.99600695G>A | CA357508549 | MTTP | c.1198G>A (p.Ala400Thr) c.949G>A (p.Ala317Thr) c.1279G>A (p.Ala427Thr) | |
4 | g.99600695G>C | CA357508551 | MTTP | c.1198G>C (p.Ala400Pro) c.949G>C (p.Ala317Pro) c.1279G>C (p.Ala427Pro) | |
4 | g.99600695G>T | CA357508552 | MTTP | c.1198G>T (p.Ala400Ser) c.949G>T (p.Ala317Ser) c.1279G>T (p.Ala427Ser) | |
4 | g.99600696C>A | CA357508554 | MTTP | c.1199C>A (p.Ala400Asp) c.950C>A (p.Ala317Asp) c.1280C>A (p.Ala427Asp) | COSMIC |
4 | g.99600696C= | CA1480079189 | MTTP | c.1199C= (p.Ala400=) c.950C= (p.Ala317=) c.1280C= (p.Ala427=) | |
4 | g.99600696C>G | CA357508556 | MTTP | c.1199C>G (p.Ala400Gly) c.950C>G (p.Ala317Gly) c.1280C>G (p.Ala427Gly) | |
4 | g.99600696C>T | CA357508558 | MTTP | c.1199C>T (p.Ala400Val) c.950C>T (p.Ala317Val) c.1280C>T (p.Ala427Val) | dbSNP gnomAD v4 |
4 | g.99600697T>A | CA440330044 | MTTP | c.1200T>A (p.Ala400=) c.951T>A (p.Ala317=) c.1281T>A (p.Ala427=) | |
4 | g.99600697T>C | CA440330045 | MTTP | c.1200T>C (p.Ala400=) c.951T>C (p.Ala317=) c.1281T>C (p.Ala427=) | |
4 | g.99600697T>G | CA440330046 | MTTP | c.1200T>G (p.Ala400=) c.951T>G (p.Ala317=) c.1281T>G (p.Ala427=) | |
4 | g.99600698T>A | CA357508560 | MTTP | c.1201T>A (p.Ser401Thr) c.952T>A (p.Ser318Thr) c.1282T>A (p.Ser428Thr) | |
4 | g.99600698T>C | CA357508562 | MTTP | c.1201T>C (p.Ser401Pro) c.952T>C (p.Ser318Pro) c.1282T>C (p.Ser428Pro) | |
4 | g.99600698T>G | CA357508563 | MTTP | c.1201T>G (p.Ser401Ala) c.952T>G (p.Ser318Ala) c.1282T>G (p.Ser428Ala) | |
4 | g.99600699C>A | CA357508570 | MTTP | c.1202C>A (p.Ser401Tyr) c.953C>A (p.Ser318Tyr) c.1283C>A (p.Ser428Tyr) | COSMIC |
4 | g.99600699C>G | CA357508566 | MTTP | c.1202C>G (p.Ser401Cys) c.953C>G (p.Ser318Cys) c.1283C>G (p.Ser428Cys) | |
4 | g.99600699C>T | CA357508568 | MTTP | c.1202C>T (p.Ser401Phe) c.953C>T (p.Ser318Phe) c.1283C>T (p.Ser428Phe) | |
4 | g.99600700T>A | CA440330049 | MTTP | c.1203T>A (p.Ser401=) c.954T>A (p.Ser318=) c.1284T>A (p.Ser428=) | |
4 | g.99600700T>C | CA440330050 | MTTP | c.1203T>C (p.Ser401=) c.954T>C (p.Ser318=) c.1284T>C (p.Ser428=) | |
4 | g.99600700T>G | CA440330051 | MTTP | c.1203T>G (p.Ser401=) c.954T>G (p.Ser318=) c.1284T>G (p.Ser428=) | |
4 | g.99600701C>A | CA357508571 | MTTP | c.1204C>A (p.His402Asn) c.955C>A (p.His319Asn) c.1285C>A (p.His429Asn) | |
4 | g.99600701C= | CA1480079190 | MTTP | c.1204C= (p.His402=) c.955C= (p.His319=) c.1285C= (p.His429=) | |
4 | g.99600701C>G | CA357508574 | MTTP | c.1204C>G (p.His402Asp) c.955C>G (p.His319Asp) c.1285C>G (p.His429Asp) | |
4 | g.99600701C>T | CA357508577 | MTTP | c.1204C>T (p.His402Tyr) c.955C>T (p.His319Tyr) c.1285C>T (p.His429Tyr) | ClinVar dbSNP gnomAD v4 |
4 | g.99600702A>C | CA357508578 | MTTP | c.1205A>C (p.His402Pro) c.956A>C (p.His319Pro) c.1286A>C (p.His429Pro) | |
4 | g.99600702A>G | CA357508580 | MTTP | c.1205A>G (p.His402Arg) c.956A>G (p.His319Arg) c.1286A>G (p.His429Arg) | |
4 | g.99600702A>T | CA357508582 | MTTP | c.1205A>T (p.His402Leu) c.956A>T (p.His319Leu) c.1286A>T (p.His429Leu) | |
4 | g.99600703T>A | CA357508586 | MTTP | c.1206T>A (p.His402Gln) c.957T>A (p.His319Gln) c.1287T>A (p.His429Gln) | |
4 | g.99600703T>C | CA440330055 | MTTP | c.1206T>C (p.His402=) c.957T>C (p.His319=) c.1287T>C (p.His429=) | |
4 | g.99600703T>G | CA357508584 | MTTP | c.1206T>G (p.His402Gln) c.957T>G (p.His319Gln) c.1287T>G (p.His429Gln) | |
4 | g.99600704C>A | CA357508589 | MTTP | c.1207C>A (p.Pro403Thr) c.958C>A (p.Pro320Thr) c.1288C>A (p.Pro430Thr) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.99600704C= | CA1480079191 | MTTP | c.1207C= (p.Pro403=) c.958C= (p.Pro320=) c.1288C= (p.Pro430=) | |
4 | g.99600704C>G | CA357508591 | MTTP | c.1207C>G (p.Pro403Ala) c.958C>G (p.Pro320Ala) c.1288C>G (p.Pro430Ala) | |
4 | g.99600704C>T | CA357508592 | MTTP | c.1207C>T (p.Pro403Ser) c.958C>T (p.Pro320Ser) c.1288C>T (p.Pro430Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99600705C>A | CA357508594 | MTTP | c.1208C>A (p.Pro403His) c.959C>A (p.Pro320His) c.1289C>A (p.Pro430His) | |
4 | g.99600705C>G | CA357508596 | MTTP | c.1208C>G (p.Pro403Arg) c.959C>G (p.Pro320Arg) c.1289C>G (p.Pro430Arg) | |
4 | g.99600705C>T | CA357508598 | MTTP | c.1208C>T (p.Pro403Leu) c.959C>T (p.Pro320Leu) c.1289C>T (p.Pro430Leu) | |
4 | g.99600706C>A | CA440330060 | MTTP | c.1209C>A (p.Pro403=) c.960C>A (p.Pro320=) c.1290C>A (p.Pro430=) | |
4 | g.99600706C>G | CA440330058 | MTTP | c.1209C>G (p.Pro403=) c.960C>G (p.Pro320=) c.1290C>G (p.Pro430=) | COSMIC |
4 | g.99600706C>T | CA440330059 | MTTP | c.1209C>T (p.Pro403=) c.960C>T (p.Pro320=) c.1290C>T (p.Pro430=) | ClinVar gnomAD v4 |
4 | g.99600707A= | CA1480079192 | MTTP | c.1210A= (p.Asn404=) c.961A= (p.Asn321=) c.1291A= (p.Asn431=) | |
4 | g.99600707A>C | CA357508603 | MTTP | c.1210A>C (p.Asn404His) c.961A>C (p.Asn321His) c.1291A>C (p.Asn431His) | |
4 | g.99600707A>G | CA3022046 | MTTP | c.1210A>G (p.Asn404Asp) c.961A>G (p.Asn321Asp) c.1291A>G (p.Asn431Asp) | dbSNP ExAC gnomAD v2 |
4 | g.99600707A>T | CA357508601 | MTTP | c.1210A>T (p.Asn404Tyr) c.961A>T (p.Asn321Tyr) c.1291A>T (p.Asn431Tyr) | |
4 | g.99600708A= | CA1480079193 | MTTP | c.1211A= (p.Asn404=) c.962A= (p.Asn321=) c.1292A= (p.Asn431=) | |
4 | g.99600708A>C | CA357508605 | MTTP | c.1211A>C (p.Asn404Thr) c.962A>C (p.Asn321Thr) c.1292A>C (p.Asn431Thr) | |
4 | g.99600708A>G | CA3022047 | MTTP | c.1211A>G (p.Asn404Ser) c.962A>G (p.Asn321Ser) c.1292A>G (p.Asn431Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99600708A>T | CA357508606 | MTTP | c.1211A>T (p.Asn404Ile) c.962A>T (p.Asn321Ile) c.1292A>T (p.Asn431Ile) | |
4 | g.99600709T>A | CA357508608 | MTTP | c.1212T>A (p.Asn404Lys) c.963T>A (p.Asn321Lys) c.1293T>A (p.Asn431Lys) | |
4 | g.99600709T>C | CA440330062 | MTTP | c.1212T>C (p.Asn404=) c.963T>C (p.Asn321=) c.1293T>C (p.Asn431=) | |
4 | g.99600709T>G | CA357508609 | MTTP | c.1212T>G (p.Asn404Lys) c.963T>G (p.Asn321Lys) c.1293T>G (p.Asn431Lys) | |
4 | g.99600710G>A | CA357508612 | MTTP | c.1213G>A (p.Glu405Lys) c.964G>A (p.Glu322Lys) c.1294G>A (p.Glu432Lys) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99600710G>C | CA357508614 | MTTP | c.1213G>C (p.Glu405Gln) c.964G>C (p.Glu322Gln) c.1294G>C (p.Glu432Gln) | |
4 | g.99600710G= | CA1480079194 | MTTP | c.1213G= (p.Glu405=) c.964G= (p.Glu322=) c.1294G= (p.Glu432=) | |
4 | g.99600710G>T | CA357508615 | MTTP | c.1213G>T (p.Glu405Ter) c.964G>T (p.Glu322Ter) c.1294G>T (p.Glu432Ter) | |
4 | g.99600711A>C | CA357508618 | MTTP | c.1214A>C (p.Glu405Ala) c.965A>C (p.Glu322Ala) c.1295A>C (p.Glu432Ala) | |
4 | g.99600711A>G | CA357508621 | MTTP | c.1214A>G (p.Glu405Gly) c.965A>G (p.Glu322Gly) c.1295A>G (p.Glu432Gly) | |
4 | g.99600711A>T | CA357508623 | MTTP | c.1214A>T (p.Glu405Val) c.965A>T (p.Glu322Val) c.1295A>T (p.Glu432Val) | |
4 | g.99600712A>C | CA357508625 | MTTP | c.1215A>C (p.Glu405Asp) c.966A>C (p.Glu322Asp) c.1296A>C (p.Glu432Asp) | |
4 | g.99600712A>G | CA440330066 | MTTP | c.1215A>G (p.Glu405=) c.966A>G (p.Glu322=) c.1296A>G (p.Glu432=) | |
4 | g.99600712A>T | CA357508627 | MTTP | c.1215A>T (p.Glu405Asp) c.966A>T (p.Glu322Asp) c.1296A>T (p.Glu432Asp) | |
4 | g.99600713G>A | CA357508629 | MTTP | c.1216G>A (p.Glu406Lys) c.967G>A (p.Glu323Lys) c.1297G>A (p.Glu433Lys) | |
4 | g.99600713G>C | CA357508633 | MTTP | c.1216G>C (p.Glu406Gln) c.967G>C (p.Glu323Gln) c.1297G>C (p.Glu433Gln) | |
4 | g.99600713G>T | CA357508631 | MTTP | c.1216G>T (p.Glu406Ter) c.967G>T (p.Glu323Ter) c.1297G>T (p.Glu433Ter) | |
4 | g.99600714A>C | CA357508635 | MTTP | c.1217A>C (p.Glu406Ala) c.968A>C (p.Glu323Ala) c.1298A>C (p.Glu433Ala) | |
4 | g.99600714A>G | CA357508637 | MTTP | c.1217A>G (p.Glu406Gly) c.968A>G (p.Glu323Gly) c.1298A>G (p.Glu433Gly) | |
4 | g.99600714A>T | CA357508639 | MTTP | c.1217A>T (p.Glu406Val) c.968A>T (p.Glu323Val) c.1298A>T (p.Glu433Val) | gnomAD v4 |
4 | g.99600715A= | CA1480079195 | MTTP | c.1218A= (p.Glu406=) c.969A= (p.Glu323=) c.1299A= (p.Glu433=) | |
4 | g.99600715A>C | CA357508641 | MTTP | c.1218A>C (p.Glu406Asp) c.969A>C (p.Glu323Asp) c.1299A>C (p.Glu433Asp) | |
4 | g.99600715A>G | CA440330070 | MTTP | c.1218A>G (p.Glu406=) c.969A>G (p.Glu323=) c.1299A>G (p.Glu433=) | |
4 | g.99600715A>T | CA3022048 | MTTP | c.1218A>T (p.Glu406Asp) c.969A>T (p.Glu323Asp) c.1299A>T (p.Glu433Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99600715_99600718delinsACTC | CA1480079196 | MTTP | c.1218_1221delinsACTC (p.Glu406=) c.969_972delinsACTC (p.Glu323=) c.1299_1302delinsACTC (p.Glu433=) | |
4 | g.99600716C>A | CA3022050 | MTTP | c.1219C>A (p.Leu407Ile) c.970C>A (p.Leu324Ile) c.1300C>A (p.Leu434Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99600716C= | CA1480079197 | MTTP | c.1219C= (p.Leu407=) c.970C= (p.Leu324=) c.1300C= (p.Leu434=) | |
4 | g.99600716C>G | CA357508645 | MTTP | c.1219C>G (p.Leu407Val) c.970C>G (p.Leu324Val) c.1300C>G (p.Leu434Val) | |
4 | g.99600716C>T | CA3022049 | MTTP | c.1219C>T (p.Leu407Phe) c.970C>T (p.Leu324Phe) c.1300C>T (p.Leu434Phe) | dbSNP ExAC |
4 | g.99600718_99600720del | CA553568414 | MTTP | c.1221_1223del (p.Leu408del) c.972_974del (p.Leu325del) c.1302_1304del (p.Leu435del) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99600717T>A | CA357508648 | MTTP | c.1220T>A (p.Leu407His) c.971T>A (p.Leu324His) c.1301T>A (p.Leu434His) | |
4 | g.99600717T>C | CA357508649 | MTTP | c.1220T>C (p.Leu407Pro) c.971T>C (p.Leu324Pro) c.1301T>C (p.Leu434Pro) | ClinVar |
4 | g.99600717T>G | CA357508651 | MTTP | c.1220T>G (p.Leu407Arg) c.971T>G (p.Leu324Arg) c.1301T>G (p.Leu434Arg) | |
4 | g.99600718C>A | CA440330072 | MTTP | c.1221C>A (p.Leu407=) c.972C>A (p.Leu324=) c.1302C>A (p.Leu434=) | |
4 | g.99600718C= | CA1480079198 | MTTP | c.1221C= (p.Leu407=) c.972C= (p.Leu324=) c.1302C= (p.Leu434=) | |
4 | g.99600718C>G | CA440330073 | MTTP | c.1221C>G (p.Leu407=) c.972C>G (p.Leu324=) c.1302C>G (p.Leu434=) | |
4 | g.99600718C>T | CA3022051 | MTTP | c.1221C>T (p.Leu407=) c.972C>T (p.Leu324=) c.1302C>T (p.Leu434=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99600719C>A | CA357508654 | MTTP | c.1222C>A (p.Leu408Met) c.973C>A (p.Leu325Met) c.1303C>A (p.Leu435Met) | |
4 | g.99600719C>G | CA357508655 | MTTP | c.1222C>G (p.Leu408Val) c.973C>G (p.Leu325Val) c.1303C>G (p.Leu435Val) | |
4 | g.99600719C>T | CA440330074 | MTTP | c.1222C>T (p.Leu408=) c.973C>T (p.Leu325=) c.1303C>T (p.Leu435=) | ClinVar dbSNP COSMIC |
4 | g.99600720T>A | CA357508658 | MTTP | c.1223T>A (p.Leu408Gln) c.974T>A (p.Leu325Gln) c.1304T>A (p.Leu435Gln) | |
4 | g.99600720T>C | CA357508662 | MTTP | c.1223T>C (p.Leu408Pro) c.974T>C (p.Leu325Pro) c.1304T>C (p.Leu435Pro) | |
4 | g.99600720T>G | CA357508660 | MTTP | c.1223T>G (p.Leu408Arg) c.974T>G (p.Leu325Arg) c.1304T>G (p.Leu435Arg) | COSMIC |
4 | g.99600721G>A | CA440330076 | MTTP | c.1224G>A (p.Leu408=) c.975G>A (p.Leu325=) c.1305G>A (p.Leu435=) | |
4 | g.99600721G>C | CA440330077 | MTTP | c.1224G>C (p.Leu408=) c.975G>C (p.Leu325=) c.1305G>C (p.Leu435=) | |
4 | g.99600721G>T | CA440330078 | MTTP | c.1224G>T (p.Leu408=) c.975G>T (p.Leu325=) c.1305G>T (p.Leu435=) | |
4 | g.99600724_99600725del | CA2578152334 | MTTP | c.1227_1228del (p.Arg409SerfsTer4) c.978_979del (p.Arg326SerfsTer4) c.1308_1309del (p.Arg436SerfsTer4) | |
4 | g.99600722A>C | CA440330079 | MTTP | c.1225A>C (p.Arg409=) c.976A>C (p.Arg326=) c.1306A>C (p.Arg436=) | |
4 | g.99600722A>G | CA357508663 | MTTP | c.1225A>G (p.Arg409Gly) c.976A>G (p.Arg326Gly) c.1306A>G (p.Arg436Gly) | |
4 | g.99600722A>T | CA357508665 | MTTP | c.1225A>T (p.Arg409Ter) c.976A>T (p.Arg326Ter) c.1306A>T (p.Arg436Ter) | |
4 | g.99600723G>A | CA357508668 | MTTP | c.1226G>A (p.Arg409Lys) c.977G>A (p.Arg326Lys) c.1307G>A (p.Arg436Lys) | gnomAD v4 |
4 | g.99600723G>C | CA357508670 | MTTP | c.1226G>C (p.Arg409Thr) c.977G>C (p.Arg326Thr) c.1307G>C (p.Arg436Thr) | |
4 | g.99600723G>T | CA357508672 | MTTP | c.1226G>T (p.Arg409Ile) c.977G>T (p.Arg326Ile) c.1307G>T (p.Arg436Ile) | |
4 | g.99600723_99600724delinsTT | CA2573138379 | MTTP | c.1226_1227delinsTT (p.Arg409Ile) c.977_978delinsTT (p.Arg326Ile) c.1307_1308delinsTT (p.Arg436Ile) | ClinVar dbSNP |
4 | g.99600724A>C | CA357508674 | MTTP | c.1227A>C (p.Arg409Ser) c.978A>C (p.Arg326Ser) c.1308A>C (p.Arg436Ser) | |
4 | g.99600724A>G | CA440330080 | MTTP | c.1227A>G (p.Arg409=) c.978A>G (p.Arg326=) c.1308A>G (p.Arg436=) | |
4 | g.99600724A>T | CA357508676 | MTTP | c.1227A>T (p.Arg409Ser) c.978A>T (p.Arg326Ser) c.1308A>T (p.Arg436Ser) | |
4 | g.99600725G>A | CA102631571 | MTTP | c.1228G>A (p.Ala410Thr) c.979G>A (p.Ala327Thr) c.1309G>A (p.Ala437Thr) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99600725G>C | CA357508679 | MTTP | c.1228G>C (p.Ala410Pro) c.979G>C (p.Ala327Pro) c.1309G>C (p.Ala437Pro) | |
4 | g.99600725G= | CA1480079199 | MTTP | c.1228G= (p.Ala410=) c.979G= (p.Ala327=) c.1309G= (p.Ala437=) | |
4 | g.99600725G>T | CA357508682 | MTTP | c.1228G>T (p.Ala410Ser) c.979G>T (p.Ala327Ser) c.1309G>T (p.Ala437Ser) | |
4 | g.99600725_99600727delinsGCC | CA1480079200 | MTTP | c.1228_1230delinsGCC (p.Ala410=) c.979_981delinsGCC (p.Ala327=) c.1309_1311delinsGCC (p.Ala437=) | |
4 | g.99600726C>A | CA357508684 | MTTP | c.1229C>A (p.Ala410Asp) c.980C>A (p.Ala327Asp) c.1310C>A (p.Ala437Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.99600726C= | CA1480079202 | MTTP | c.1229C= (p.Ala410=) c.980C= (p.Ala327=) c.1310C= (p.Ala437=) | |
4 | g.99600726C>G | CA357508686 | MTTP | c.1229C>G (p.Ala410Gly) c.980C>G (p.Ala327Gly) c.1310C>G (p.Ala437Gly) | |
4 | g.99600726C>T | CA357508685 | MTTP | c.1229C>T (p.Ala410Val) c.980C>T (p.Ala327Val) c.1310C>T (p.Ala437Val) | |
4 | g.99600726_99600728delinsT | CA2695203659 | MTTP | c.1229_1231delinsT (p.Ala410ValfsTer3) c.980_982delinsT (p.Ala327ValfsTer3) c.1310_1312delinsT (p.Ala437ValfsTer3) | |
4 | g.99600727_99600728del | CA1480079201 | MTTP | c.1230_1231del (p.Leu411HisfsTer2) c.981_982del (p.Leu328HisfsTer2) c.1311_1312del (p.Leu438HisfsTer2) | ClinVar dbSNP gnomAD v4 |
4 | g.99600727C>A | CA440330082 | MTTP | c.1230C>A (p.Ala410=) c.981C>A (p.Ala327=) c.1311C>A (p.Ala437=) | |
4 | g.99600727C>G | CA440330084 | MTTP | c.1230C>G (p.Ala410=) c.981C>G (p.Ala327=) c.1311C>G (p.Ala437=) | gnomAD v4 |
4 | g.99600727C>T | CA440330083 | MTTP | c.1230C>T (p.Ala410=) c.981C>T (p.Ala327=) c.1311C>T (p.Ala437=) | ClinVar |
4 | g.99600728C>A | CA357508687 | MTTP | c.1231C>A (p.Leu411Ile) c.982C>A (p.Leu328Ile) c.1312C>A (p.Leu438Ile) | |
4 | g.99600728C= | CA1480079203 | MTTP | c.1231C= (p.Leu411=) c.982C= (p.Leu328=) c.1312C= (p.Leu438=) | |
4 | g.99600728C>G | CA357508691 | MTTP | c.1231C>G (p.Leu411Val) c.982C>G (p.Leu328Val) c.1312C>G (p.Leu438Val) | gnomAD v4 |
4 | g.99600728C>T | CA357508689 | MTTP | c.1231C>T (p.Leu411Phe) c.982C>T (p.Leu328Phe) c.1312C>T (p.Leu438Phe) | dbSNP gnomAD v4 |
4 | g.99600729T>A | CA357508693 | MTTP | c.1232T>A (p.Leu411His) c.983T>A (p.Leu328His) c.1313T>A (p.Leu438His) | |
4 | g.99600729T>C | CA357508697 | MTTP | c.1232T>C (p.Leu411Pro) c.983T>C (p.Leu328Pro) c.1313T>C (p.Leu438Pro) | |
4 | g.99600729T>G | CA357508695 | MTTP | c.1232T>G (p.Leu411Arg) c.983T>G (p.Leu328Arg) c.1313T>G (p.Leu438Arg) | |
4 | g.99600730C>A | CA440330086 | MTTP | c.1233C>A (p.Leu411=) c.984C>A (p.Leu328=) c.1314C>A (p.Leu438=) | |
4 | g.99600730C= | CA1480079204 | MTTP | c.1233C= (p.Leu411=) c.984C= (p.Leu328=) c.1314C= (p.Leu438=) | |
4 | g.99600730C>G | CA440330087 | MTTP | c.1233C>G (p.Leu411=) c.984C>G (p.Leu328=) c.1314C>G (p.Leu438=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99600730C>T | CA440330088 | MTTP | c.1233C>T (p.Leu411=) c.984C>T (p.Leu328=) c.1314C>T (p.Leu438=) | ClinVar dbSNP gnomAD v4 |
4 | g.99600731A= | CA1480079205 | MTTP | c.1234A= (p.Ile412=) c.985A= (p.Ile329=) c.1315A= (p.Ile439=) | |
4 | g.99600731A>C | CA357508699 | MTTP | c.1234A>C (p.Ile412Leu) c.985A>C (p.Ile329Leu) c.1315A>C (p.Ile439Leu) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99600731A>G | CA357508701 | MTTP | c.1234A>G (p.Ile412Val) c.985A>G (p.Ile329Val) c.1315A>G (p.Ile439Val) | |
4 | g.99600731A>T | CA357508703 | MTTP | c.1234A>T (p.Ile412Phe) c.985A>T (p.Ile329Phe) c.1315A>T (p.Ile439Phe) | |
4 | g.99600732T>A | CA3022052 | MTTP | c.1235T>A (p.Ile412Asn) c.986T>A (p.Ile329Asn) c.1316T>A (p.Ile439Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99600732T>C | CA357508706 | MTTP | c.1235T>C (p.Ile412Thr) c.986T>C (p.Ile329Thr) c.1316T>C (p.Ile439Thr) | dbSNP gnomAD v4 |
4 | g.99600732T>G | CA357508709 | MTTP | c.1235T>G (p.Ile412Ser) c.986T>G (p.Ile329Ser) c.1316T>G (p.Ile439Ser) | |
4 | g.99600732T= | CA1480079206 | MTTP | c.1235T= (p.Ile412=) c.986T= (p.Ile329=) c.1316T= (p.Ile439=) | |
4 | g.99600733T>A | CA440330091 | MTTP | c.1236T>A (p.Ile412=) c.987T>A (p.Ile329=) c.1317T>A (p.Ile439=) | |
4 | g.99600733T>C | CA440330093 | MTTP | c.1236T>C (p.Ile412=) c.987T>C (p.Ile329=) c.1317T>C (p.Ile439=) | |
4 | g.99600733T>G | CA357508711 | MTTP | c.1236T>G (p.Ile412Met) c.987T>G (p.Ile329Met) c.1317T>G (p.Ile439Met) | gnomAD v4 |
4 | g.99600733_99600734insA | CA2762812119 | MTTP | c.1236_1236+1insA (n.1236_1236+1insA) c.987_987+1insA (n.987_987+1insA) c.1317_1317+1insA (n.1317_1317+1insA) | |
4 | g.99600734G>A | CA3022053 | MTTP | c.1236+1G>A (n.1236+1G>A) c.987+1G>A (n.987+1G>A) c.1317+1G>A (n.1317+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99600734G>C | CA357508714 | MTTP | c.1236+1G>C (n.1236+1G>C) c.987+1G>C (n.987+1G>C) c.1317+1G>C (n.1317+1G>C) | |
4 | g.99600734G= | CA1480079207 | MTTP | c.1236+1G= (n.1236+1G=) c.987+1G= (n.987+1G=) c.1317+1G= (n.1317+1G=) | |
4 | g.99600734G>T | CA16020710 | MTTP | c.1236+1G>T (n.1236+1G>T) c.987+1G>T (n.987+1G>T) c.1317+1G>T (n.1317+1G>T) | ClinVar dbSNP gnomAD v4 |
4 | g.99600735T>A | CA357508715 | MTTP | c.1236+2T>A (n.1236+2T>A) c.987+2T>A (n.987+2T>A) c.1317+2T>A (n.1317+2T>A) | gnomAD v4 |
4 | g.99600735T>C | CA357508716 | MTTP | c.1236+2T>C (n.1236+2T>C) c.987+2T>C (n.987+2T>C) c.1317+2T>C (n.1317+2T>C) | |
4 | g.99600735T>G | CA357508718 | MTTP | c.1236+2T>G (n.1236+2T>G) c.987+2T>G (n.987+2T>G) c.1317+2T>G (n.1317+2T>G) | |
4 | g.99600735dup | CA2740557550 | MTTP | c.1236+2dup (n.1236+2dup) c.987+2dup (n.987+2dup) c.1317+2dup (n.1317+2dup) | |
4 | g.99600740C>A | CA2671534168 | MTTP | c.1236+7C>A (n.1236+7C>A) c.987+7C>A (n.987+7C>A) c.1317+7C>A (n.1317+7C>A) | gnomAD v4 |
4 | g.99600740C>G | CA2499217359 | MTTP | c.1236+7C>G (n.1236+7C>G) c.987+7C>G (n.987+7C>G) c.1317+7C>G (n.1317+7C>G) | ClinVar dbSNP |
4 | g.99600742A= | CA1480079208 | MTTP | c.1236+9A= (n.1236+9A=) c.987+9A= (n.987+9A=) c.1317+9A= (n.1317+9A=) | |
4 | g.99600742A>G | CA1480079209 | MTTP | c.1236+9A>G (n.1236+9A>G) c.987+9A>G (n.987+9A>G) c.1317+9A>G (n.1317+9A>G) | dbSNP |
4 | g.99600744T>C | CA3022054 | MTTP | c.1236+11T>C (n.1236+11T>C) c.987+11T>C (n.987+11T>C) c.1317+11T>C (n.1317+11T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99600744T= | CA1480079210 | MTTP | c.1236+11T= (n.1236+11T=) c.987+11T= (n.987+11T=) c.1317+11T= (n.1317+11T=) | |
4 | g.99600745A= | CA1480079211 | MTTP | c.1236+12A= (n.1236+12A=) c.987+12A= (n.987+12A=) c.1317+12A= (n.1317+12A=) | |
4 | g.99600745A>G | CA3022055 | MTTP | c.1236+12A>G (n.1236+12A>G) c.987+12A>G (n.987+12A>G) c.1317+12A>G (n.1317+12A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99600747A= | CA1480079212 | MTTP | c.1236+14A= (n.1236+14A=) c.987+14A= (n.987+14A=) c.1317+14A= (n.1317+14A=) | |
4 | g.99600747A>G | CA553568415 | MTTP | c.1236+14A>G (n.1236+14A>G) c.987+14A>G (n.987+14A>G) c.1317+14A>G (n.1317+14A>G) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99600751T>C | CA2553875259 | MTTP | c.1236+18T>C (n.1236+18T>C) c.987+18T>C (n.987+18T>C) c.1317+18T>C (n.1317+18T>C) | gnomAD v4 |
4 | g.99600752A>G | CA2578152335 | MTTP | c.1236+19A>G (n.1236+19A>G) c.987+19A>G (n.987+19A>G) c.1317+19A>G (n.1317+19A>G) | |
4 | g.99600753_99600754del | CA2762812123 | MTTP | c.1236+20_1236+21del (n.1236+20_1236+21del) c.987+20_987+21del (n.987+20_987+21del) c.1317+20_1317+21del (n.1317+20_1317+21del) | |
4 | g.99600754A= | CA1480079213 | MTTP | c.1236+21A= (n.1236+21A=) c.987+21A= (n.987+21A=) c.1317+21A= (n.1317+21A=) | |
4 | g.99600754A>G | CA3022056 | MTTP | c.1236+21A>G (n.1236+21A>G) c.987+21A>G (n.987+21A>G) c.1317+21A>G (n.1317+21A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99600756A>G | CA2578152336 | MTTP | c.1236+23A>G (n.1236+23A>G) c.987+23A>G (n.987+23A>G) c.1317+23A>G (n.1317+23A>G) | gnomAD v4 |
4 | g.99600757C>A | CA2671534169 | MTTP | c.1236+24C>A (n.1236+24C>A) c.987+24C>A (n.987+24C>A) c.1317+24C>A (n.1317+24C>A) | gnomAD v4 |
4 | g.99600757C>T | CA2762812130 | MTTP | c.1236+24C>T (n.1236+24C>T) c.987+24C>T (n.987+24C>T) c.1317+24C>T (n.1317+24C>T) | |
4 | g.99600758_99600759del | CA2762812129 | MTTP | c.1236+25_1236+26del (n.1236+25_1236+26del) c.987+25_987+26del (n.987+25_987+26del) c.1317+25_1317+26del (n.1317+25_1317+26del) | |
4 | g.99600758_99600761del | CA2762812131 | MTTP | c.1236+25_1236+28del (n.1236+25_1236+28del) c.987+25_987+28del (n.987+25_987+28del) c.1317+25_1317+28del (n.1317+25_1317+28del) | |
4 | g.99600758C>A | CA3022057 | MTTP | c.1236+25C>A (n.1236+25C>A) c.987+25C>A (n.987+25C>A) c.1317+25C>A (n.1317+25C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99600758C= | CA1480079214 | MTTP | c.1236+25C= (n.1236+25C=) c.987+25C= (n.987+25C=) c.1317+25C= (n.1317+25C=) | |
4 | g.99600758C>G | CA3022058 | MTTP | c.1236+25C>G (n.1236+25C>G) c.987+25C>G (n.987+25C>G) c.1317+25C>G (n.1317+25C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99600759_99600760insAGA | CA2762812136 | MTTP | c.1236+26_1236+27insAGA (n.1236+26_1236+27insAGA) c.987+26_987+27insAGA (n.987+26_987+27insAGA) c.1317+26_1317+27insAGA (n.1317+26_1317+27insAGA) | |
4 | g.99600760T>A | CA2762812137 | MTTP | c.1236+27T>A (n.1236+27T>A) c.987+27T>A (n.987+27T>A) c.1317+27T>A (n.1317+27T>A) | |
4 | g.99600760T>C | CA1480079215 | MTTP | c.1236+27T>C (n.1236+27T>C) c.987+27T>C (n.987+27T>C) c.1317+27T>C (n.1317+27T>C) | dbSNP gnomAD v4 |
4 | g.99600760T= | CA1480079216 | MTTP | c.1236+27T= (n.1236+27T=) c.987+27T= (n.987+27T=) c.1317+27T= (n.1317+27T=) | |
4 | g.99600760_99600762del | CA2578152337 | MTTP | c.1236+27_1236+29del (n.1236+27_1236+29del) c.987+27_987+29del (n.987+27_987+29del) c.1317+27_1317+29del (n.1317+27_1317+29del) | |
4 | g.99600761C>A | CA102631656 | MTTP | c.1236+28C>A (n.1236+28C>A) c.987+28C>A (n.987+28C>A) c.1317+28C>A (n.1317+28C>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.99600761C= | CA1480079217 | MTTP | c.1236+28C= (n.1236+28C=) c.987+28C= (n.987+28C=) c.1317+28C= (n.1317+28C=) | |
4 | g.99600761C>G | CA3022059 | MTTP | c.1236+28C>G (n.1236+28C>G) c.987+28C>G (n.987+28C>G) c.1317+28C>G (n.1317+28C>G) | dbSNP ExAC gnomAD v2 |
4 | g.99600761C>T | CA553568422 | MTTP | c.1236+28C>T (n.1236+28C>T) c.987+28C>T (n.987+28C>T) c.1317+28C>T (n.1317+28C>T) | dbSNP gnomAD v2 |
4 | g.99600762A>G | CA2671534170 | MTTP | c.1236+29A>G (n.1236+29A>G) c.987+29A>G (n.987+29A>G) c.1317+29A>G (n.1317+29A>G) | gnomAD v4 |
4 | g.99600763del | CA2762812139 | MTTP | c.1236+30del (n.1236+30del) c.987+30del (n.987+30del) c.1317+30del (n.1317+30del) | |
4 | g.99600763A>G | CA2671534171 | MTTP | c.1236+30A>G (n.1236+30A>G) c.987+30A>G (n.987+30A>G) c.1317+30A>G (n.1317+30A>G) | gnomAD v4 |
4 | g.99600764C>A | CA553568423 | MTTP | c.1236+31C>A (n.1236+31C>A) c.987+31C>A (n.987+31C>A) c.1317+31C>A (n.1317+31C>A) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99600764C= | CA1480079218 | MTTP | c.1236+31C= (n.1236+31C=) c.987+31C= (n.987+31C=) c.1317+31C= (n.1317+31C=) | |
4 | g.99600764C>T | CA2671534172 | MTTP | c.1236+31C>T (n.1236+31C>T) c.987+31C>T (n.987+31C>T) c.1317+31C>T (n.1317+31C>T) | gnomAD v4 |
4 | g.99600765T>A | CA2762812141 | MTTP | c.1236+32T>A (n.1236+32T>A) c.987+32T>A (n.987+32T>A) c.1317+32T>A (n.1317+32T>A) | |
4 | g.99600765_99600766insACA | CA2762812142 | MTTP | c.1236+32_1236+33insACA (n.1236+32_1236+33insACA) c.987+32_987+33insACA (n.987+32_987+33insACA) c.1317+32_1317+33insACA (n.1317+32_1317+33insACA) | |
4 | g.99600766C>A | CA2762812144 | MTTP | c.1236+33C>A (n.1236+33C>A) c.987+33C>A (n.987+33C>A) c.1317+33C>A (n.1317+33C>A) | |
4 | g.99600766C= | CA1480079219 | MTTP | c.1236+33C= (n.1236+33C=) c.987+33C= (n.987+33C=) c.1317+33C= (n.1317+33C=) | |
4 | g.99600766C>T | CA1065946483 | MTTP | c.1236+33C>T (n.1236+33C>T) c.987+33C>T (n.987+33C>T) c.1317+33C>T (n.1317+33C>T) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.99600766_99600767insA | CA2762812147 | MTTP | c.1236+33_1236+34insA (n.1236+33_1236+34insA) c.987+33_987+34insA (n.987+33_987+34insA) c.1317+33_1317+34insA (n.1317+33_1317+34insA) | |
4 | g.99600767C= | CA1480079220 | MTTP | c.1236+34C= (n.1236+34C=) c.987+34C= (n.987+34C=) c.1317+34C= (n.1317+34C=) | |
4 | g.99600767C>G | CA2671534173 | MTTP | c.1236+34C>G (n.1236+34C>G) c.987+34C>G (n.987+34C>G) c.1317+34C>G (n.1317+34C>G) | gnomAD v4 |
4 | g.99600767C>T | CA3022060 | MTTP | c.1236+34C>T (n.1236+34C>T) c.987+34C>T (n.987+34C>T) c.1317+34C>T (n.1317+34C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99600768del | CA2762812150 | MTTP | c.1236+35del (n.1236+35del) c.987+35del (n.987+35del) c.1317+35del (n.1317+35del) | |
4 | g.99600768T>A | CA3022061 | MTTP | c.1236+35T>A (n.1236+35T>A) c.987+35T>A (n.987+35T>A) c.1317+35T>A (n.1317+35T>A) | dbSNP ExAC gnomAD v2 |
4 | g.99600768T>C | CA553568424 | MTTP | c.1236+35T>C (n.1236+35T>C) c.987+35T>C (n.987+35T>C) c.1317+35T>C (n.1317+35T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99600768T= | CA1480079221 | MTTP | c.1236+35T= (n.1236+35T=) c.987+35T= (n.987+35T=) c.1317+35T= (n.1317+35T=) |