Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.11157173C>A | CA199563 | MTOR | c.4448G>T (p.Cys1483Phe) n.368G>T c.4235G>T (p.Cys1412Phe) c.*1278G>T (n.*1278G>T) n.4569G>T c.3767G>T (p.Cys1256Phe) c.3200G>T (p.Cys1067Phe) | ClinVar dbSNP COSMIC |
1 | g.11157173C= | CA1153537766 | MTOR | c.4448G= (p.Cys1483=) n.368G= c.4235G= (p.Cys1412=) c.*1278G= (n.*1278G=) n.4569G= c.3767G= (p.Cys1256=) c.3200G= (p.Cys1067=) | |
1 | g.11157173C>G | CA338371562 | MTOR | c.4448G>C (p.Cys1483Ser) n.368G>C c.4235G>C (p.Cys1412Ser) c.*1278G>C (n.*1278G>C) n.4569G>C c.3767G>C (p.Cys1256Ser) c.3200G>C (p.Cys1067Ser) | dbSNP |
1 | g.11157173C>T | CA16602888 | MTOR | c.4448G>A (p.Cys1483Tyr) n.368G>A c.4235G>A (p.Cys1412Tyr) c.*1278G>A (n.*1278G>A) n.4569G>A c.3767G>A (p.Cys1256Tyr) c.3200G>A (p.Cys1067Tyr) | ClinVar dbSNP COSMIC |
1 | g.11157174A= | CA1153537779 | MTOR | c.4447T= (p.Cys1483=) n.367T= c.4234T= (p.Cys1412=) c.*1277T= (n.*1277T=) n.4568T= c.3766T= (p.Cys1256=) c.3199T= (p.Cys1067=) | |
1 | g.11157174A>C | CA338371566 | MTOR | c.4447T>G (p.Cys1483Gly) n.367T>G c.4234T>G (p.Cys1412Gly) c.*1277T>G (n.*1277T>G) n.4568T>G c.3766T>G (p.Cys1256Gly) c.3199T>G (p.Cys1067Gly) | dbSNP |
1 | g.11157174A>G | CA16602264 | MTOR | c.4447T>C (p.Cys1483Arg) n.367T>C c.4234T>C (p.Cys1412Arg) c.*1277T>C (n.*1277T>C) n.4568T>C c.3766T>C (p.Cys1256Arg) c.3199T>C (p.Cys1067Arg) | ClinVar dbSNP |
1 | g.11157174A>T | CA338371570 | MTOR | c.4447T>A (p.Cys1483Ser) n.367T>A c.4234T>A (p.Cys1412Ser) c.*1277T>A (n.*1277T>A) n.4568T>A c.3766T>A (p.Cys1256Ser) c.3199T>A (p.Cys1067Ser) | dbSNP |
1 | g.11157175G>A | CA589643 | MTOR | c.4446C>T (p.Arg1482=) n.366C>T c.4233C>T (p.Arg1411=) c.*1276C>T (n.*1276C>T) n.4567C>T c.3765C>T (p.Arg1255=) c.3198C>T (p.Arg1066=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.11157175G>C | CA415913570 | MTOR | c.4446C>G (p.Arg1482=) n.366C>G c.4233C>G (p.Arg1411=) c.*1276C>G (n.*1276C>G) n.4567C>G c.3765C>G (p.Arg1255=) c.3198C>G (p.Arg1066=) | dbSNP |
1 | g.11157175G= | CA1153537782 | MTOR | c.4446C= (p.Arg1482=) n.366C= c.4233C= (p.Arg1411=) c.*1276C= (n.*1276C=) n.4567C= c.3765C= (p.Arg1255=) c.3198C= (p.Arg1066=) | |
1 | g.11157175G>T | CA415913571 | MTOR | c.4446C>A (p.Arg1482=) n.366C>A c.4233C>A (p.Arg1411=) c.*1276C>A (n.*1276C>A) n.4567C>A c.3765C>A (p.Arg1255=) c.3198C>A (p.Arg1066=) | |
1 | g.11157176C>A | CA338371573 | MTOR | c.4445G>T (p.Arg1482Leu) n.365G>T c.4232G>T (p.Arg1411Leu) c.*1275G>T (n.*1275G>T) n.4566G>T c.3764G>T (p.Arg1255Leu) c.3197G>T (p.Arg1066Leu) | dbSNP |
1 | g.11157176C= | CA1153537786 | MTOR | c.4445G= (p.Arg1482=) n.365G= c.4232G= (p.Arg1411=) c.*1275G= (n.*1275G=) n.4566G= c.3764G= (p.Arg1255=) c.3197G= (p.Arg1066=) | |
1 | g.11157176C>G | CA338371575 | MTOR | c.4445G>C (p.Arg1482Pro) n.365G>C c.4232G>C (p.Arg1411Pro) c.*1275G>C (n.*1275G>C) n.4566G>C c.3764G>C (p.Arg1255Pro) c.3197G>C (p.Arg1066Pro) | dbSNP |
1 | g.11157176C>T | CA338371578 | MTOR | c.4445G>A (p.Arg1482His) n.365G>A c.4232G>A (p.Arg1411His) c.*1275G>A (n.*1275G>A) n.4566G>A c.3764G>A (p.Arg1255His) c.3197G>A (p.Arg1066His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.11157177G>A | CA17913606 | MTOR | c.4444C>T (p.Arg1482Cys) n.364C>T c.4231C>T (p.Arg1411Cys) c.*1274C>T (n.*1274C>T) n.4565C>T c.3763C>T (p.Arg1255Cys) c.3196C>T (p.Arg1066Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.11157177G>C | CA338371584 | MTOR | c.4444C>G (p.Arg1482Gly) n.364C>G c.4231C>G (p.Arg1411Gly) c.*1274C>G (n.*1274C>G) n.4565C>G c.3763C>G (p.Arg1255Gly) c.3196C>G (p.Arg1066Gly) | ClinVar dbSNP gnomAD v4 |
1 | g.11157177G= | CA1153537790 | MTOR | c.4444C= (p.Arg1482=) n.364C= c.4231C= (p.Arg1411=) c.*1274C= (n.*1274C=) n.4565C= c.3763C= (p.Arg1255=) c.3196C= (p.Arg1066=) | |
1 | g.11157177G>T | CA338371585 | MTOR | c.4444C>A (p.Arg1482Ser) n.364C>A c.4231C>A (p.Arg1411Ser) c.*1274C>A (n.*1274C>A) n.4565C>A c.3763C>A (p.Arg1255Ser) c.3196C>A (p.Arg1066Ser) | gnomAD v4 |
1 | g.11157178C>A | CA338371588 | MTOR | c.4443G>T (p.Met1481Ile) n.363G>T c.4230G>T (p.Met1410Ile) c.*1273G>T (n.*1273G>T) n.4564G>T c.3762G>T (p.Met1254Ile) c.3195G>T (p.Met1065Ile) | |
1 | g.11157178C>G | CA338371590 | MTOR | c.4443G>C (p.Met1481Ile) n.363G>C c.4230G>C (p.Met1410Ile) c.*1273G>C (n.*1273G>C) n.4564G>C c.3762G>C (p.Met1254Ile) c.3195G>C (p.Met1065Ile) | dbSNP |
1 | g.11157178C>T | CA338371591 | MTOR | c.4443G>A (p.Met1481Ile) n.363G>A c.4230G>A (p.Met1410Ile) c.*1273G>A (n.*1273G>A) n.4564G>A c.3762G>A (p.Met1254Ile) c.3195G>A (p.Met1065Ile) | |
1 | g.11157179A= | CA1153537793 | MTOR | c.4442T= (p.Met1481=) n.362T= c.4229T= (p.Met1410=) c.*1272T= (n.*1272T=) n.4563T= c.3761T= (p.Met1254=) c.3194T= (p.Met1065=) | |
1 | g.11157179A>C | CA338371596 | MTOR | c.4442T>G (p.Met1481Arg) n.362T>G c.4229T>G (p.Met1410Arg) c.*1272T>G (n.*1272T>G) n.4563T>G c.3761T>G (p.Met1254Arg) c.3194T>G (p.Met1065Arg) | dbSNP |
1 | g.11157179A>G | CA338371595 | MTOR | c.4442T>C (p.Met1481Thr) n.362T>C c.4229T>C (p.Met1410Thr) c.*1272T>C (n.*1272T>C) n.4563T>C c.3761T>C (p.Met1254Thr) c.3194T>C (p.Met1065Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11157179A>T | CA338371594 | MTOR | c.4442T>A (p.Met1481Lys) n.362T>A c.4229T>A (p.Met1410Lys) c.*1272T>A (n.*1272T>A) n.4563T>A c.3761T>A (p.Met1254Lys) c.3194T>A (p.Met1065Lys) | dbSNP |
1 | g.11157180T>A | CA338371600 | MTOR | c.4441A>T (p.Met1481Leu) n.361A>T c.4228A>T (p.Met1410Leu) c.*1271A>T (n.*1271A>T) n.4562A>T c.3760A>T (p.Met1254Leu) c.3193A>T (p.Met1065Leu) | dbSNP |
1 | g.11157180T>C | CA338371597 | MTOR | c.4441A>G (p.Met1481Val) n.361A>G c.4228A>G (p.Met1410Val) c.*1271A>G (n.*1271A>G) n.4562A>G c.3760A>G (p.Met1254Val) c.3193A>G (p.Met1065Val) | gnomAD v4 |
1 | g.11157180T>G | CA338371598 | MTOR | c.4441A>C (p.Met1481Leu) n.361A>C c.4228A>C (p.Met1410Leu) c.*1271A>C (n.*1271A>C) n.4562A>C c.3760A>C (p.Met1254Leu) c.3193A>C (p.Met1065Leu) | gnomAD v4 |
1 | g.11157181G>A | CA589644 | MTOR | c.4440C>T (p.Arg1480=) n.360C>T c.4227C>T (p.Arg1409=) c.*1270C>T (n.*1270C>T) n.4561C>T c.3759C>T (p.Arg1253=) c.3192C>T (p.Arg1064=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11157181G>C | CA415913580 | MTOR | c.4440C>G (p.Arg1480=) n.360C>G c.4227C>G (p.Arg1409=) c.*1270C>G (n.*1270C>G) n.4561C>G c.3759C>G (p.Arg1253=) c.3192C>G (p.Arg1064=) | dbSNP |
1 | g.11157181G= | CA1153537797 | MTOR | c.4440C= (p.Arg1480=) n.360C= c.4227C= (p.Arg1409=) c.*1270C= (n.*1270C=) n.4561C= c.3759C= (p.Arg1253=) c.3192C= (p.Arg1064=) | |
1 | g.11157181G>T | CA415913579 | MTOR | c.4440C>A (p.Arg1480=) n.360C>A c.4227C>A (p.Arg1409=) c.*1270C>A (n.*1270C>A) n.4561C>A c.3759C>A (p.Arg1253=) c.3192C>A (p.Arg1064=) | |
1 | g.11157182C>A | CA338371602 | MTOR | c.4439G>T (p.Arg1480Leu) n.359G>T c.4226G>T (p.Arg1409Leu) c.*1269G>T (n.*1269G>T) n.4560G>T c.3758G>T (p.Arg1253Leu) c.3191G>T (p.Arg1064Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11157182C= | CA1153537807 | MTOR | c.4439G= (p.Arg1480=) n.359G= c.4226G= (p.Arg1409=) c.*1269G= (n.*1269G=) n.4560G= c.3758G= (p.Arg1253=) c.3191G= (p.Arg1064=) | |
1 | g.11157182C>G | CA338371604 | MTOR | c.4439G>C (p.Arg1480Pro) n.359G>C c.4226G>C (p.Arg1409Pro) c.*1269G>C (n.*1269G>C) n.4560G>C c.3758G>C (p.Arg1253Pro) c.3191G>C (p.Arg1064Pro) | dbSNP |
1 | g.11157182C>T | CA589645 | MTOR | c.4439G>A (p.Arg1480His) n.359G>A c.4226G>A (p.Arg1409His) c.*1269G>A (n.*1269G>A) n.4560G>A c.3758G>A (p.Arg1253His) c.3191G>A (p.Arg1064His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.11157183G>A | CA17913608 | MTOR | c.4438C>T (p.Arg1480Cys) n.358C>T c.4225C>T (p.Arg1409Cys) c.*1268C>T (n.*1268C>T) n.4559C>T c.3757C>T (p.Arg1253Cys) c.3190C>T (p.Arg1064Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11157183G>C | CA338371615 | MTOR | c.4438C>G (p.Arg1480Gly) n.358C>G c.4225C>G (p.Arg1409Gly) c.*1268C>G (n.*1268C>G) n.4559C>G c.3757C>G (p.Arg1253Gly) c.3190C>G (p.Arg1064Gly) | dbSNP |
1 | g.11157183G= | CA1142242745 | MTOR | c.4438C= (p.Arg1480=) n.358C= c.4225C= (p.Arg1409=) c.*1268C= (n.*1268C=) n.4559C= c.3757C= (p.Arg1253=) c.3190C= (p.Arg1064=) | |
1 | g.11157183G>T | CA338371616 | MTOR | c.4438C>A (p.Arg1480Ser) n.358C>A c.4225C>A (p.Arg1409Ser) c.*1268C>A (n.*1268C>A) n.4559C>A c.3757C>A (p.Arg1253Ser) c.3190C>A (p.Arg1064Ser) | dbSNP |
1 | g.11157184G>A | CA415913587 | MTOR | c.4437C>T (p.Gly1479=) n.357C>T c.4224C>T (p.Gly1408=) c.*1267C>T (n.*1267C>T) n.4558C>T c.3756C>T (p.Gly1252=) c.3189C>T (p.Gly1063=) | ClinVar dbSNP gnomAD v2 |
1 | g.11157184G>C | CA415913586 | MTOR | c.4437C>G (p.Gly1479=) n.357C>G c.4224C>G (p.Gly1408=) c.*1267C>G (n.*1267C>G) n.4558C>G c.3756C>G (p.Gly1252=) c.3189C>G (p.Gly1063=) | dbSNP |
1 | g.11157184G= | CA1153537820 | MTOR | c.4437C= (p.Gly1479=) n.357C= c.4224C= (p.Gly1408=) c.*1267C= (n.*1267C=) n.4558C= c.3756C= (p.Gly1252=) c.3189C= (p.Gly1063=) | |
1 | g.11157184G>T | CA415913585 | MTOR | c.4437C>A (p.Gly1479=) n.357C>A c.4224C>A (p.Gly1408=) c.*1267C>A (n.*1267C>A) n.4558C>A c.3756C>A (p.Gly1252=) c.3189C>A (p.Gly1063=) | |
1 | g.11157185C>A | CA338371618 | MTOR | c.4436G>T (p.Gly1479Val) n.356G>T c.4223G>T (p.Gly1408Val) c.*1266G>T (n.*1266G>T) n.4557G>T c.3755G>T (p.Gly1252Val) c.3188G>T (p.Gly1063Val) | dbSNP |
1 | g.11157185C>G | CA338371620 | MTOR | c.4436G>C (p.Gly1479Ala) n.356G>C c.4223G>C (p.Gly1408Ala) c.*1266G>C (n.*1266G>C) n.4557G>C c.3755G>C (p.Gly1252Ala) c.3188G>C (p.Gly1063Ala) | dbSNP |
1 | g.11157185C>T | CA338371623 | MTOR | c.4436G>A (p.Gly1479Asp) n.356G>A c.4223G>A (p.Gly1408Asp) c.*1266G>A (n.*1266G>A) n.4557G>A c.3755G>A (p.Gly1252Asp) c.3188G>A (p.Gly1063Asp) | dbSNP |
1 | g.11157186C>A | CA338371630 | MTOR | c.4435G>T (p.Gly1479Cys) n.355G>T c.4222G>T (p.Gly1408Cys) c.*1265G>T (n.*1265G>T) n.4556G>T c.3754G>T (p.Gly1252Cys) c.3187G>T (p.Gly1063Cys) | dbSNP |