UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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) | ClinVar 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 |
| 1 | g.11157186C>G | CA338371632 | MTOR | c.4435G>C (p.Gly1479Arg) n.355G>C c.4222G>C (p.Gly1408Arg) c.*1265G>C (n.*1265G>C) n.4556G>C c.3754G>C (p.Gly1252Arg) c.3187G>C (p.Gly1063Arg) | dbSNP |
| 1 | g.11157186C>T | CA338371628 | MTOR | c.4435G>A (p.Gly1479Ser) n.355G>A c.4222G>A (p.Gly1408Ser) c.*1265G>A (n.*1265G>A) n.4556G>A c.3754G>A (p.Gly1252Ser) c.3187G>A (p.Gly1063Ser) | dbSNP |
| 1 | g.11157187C>A | CA415913590 | MTOR | c.4434G>T (p.Leu1478=) n.354G>T c.4221G>T (p.Leu1407=) c.*1264G>T (n.*1264G>T) n.4555G>T c.3753G>T (p.Leu1251=) c.3186G>T (p.Leu1062=) | |
| 1 | g.11157187C>G | CA415913593 | MTOR | c.4434G>C (p.Leu1478=) n.354G>C c.4221G>C (p.Leu1407=) c.*1264G>C (n.*1264G>C) n.4555G>C c.3753G>C (p.Leu1251=) c.3186G>C (p.Leu1062=) | dbSNP |
| 1 | g.11157187C>T | CA415913591 | MTOR | c.4434G>A (p.Leu1478=) n.354G>A c.4221G>A (p.Leu1407=) c.*1264G>A (n.*1264G>A) n.4555G>A c.3753G>A (p.Leu1251=) c.3186G>A (p.Leu1062=) | dbSNP |
| 1 | g.11157188A>C | CA338371635 | MTOR | c.4433T>G (p.Leu1478Arg) n.353T>G c.4220T>G (p.Leu1407Arg) c.*1263T>G (n.*1263T>G) n.4554T>G c.3752T>G (p.Leu1251Arg) c.3185T>G (p.Leu1062Arg) | |
| 1 | g.11157188A>G | CA338371638 | MTOR | c.4433T>C (p.Leu1478Pro) n.353T>C c.4220T>C (p.Leu1407Pro) c.*1263T>C (n.*1263T>C) n.4554T>C c.3752T>C (p.Leu1251Pro) c.3185T>C (p.Leu1062Pro) | dbSNP |
| 1 | g.11157188A>T | CA338371641 | MTOR | c.4433T>A (p.Leu1478Gln) n.353T>A c.4220T>A (p.Leu1407Gln) c.*1263T>A (n.*1263T>A) n.4554T>A c.3752T>A (p.Leu1251Gln) c.3185T>A (p.Leu1062Gln) | dbSNP |
| 1 | g.11157189G>A | CA415913596 | MTOR | c.4432C>T (p.Leu1478=) n.352C>T c.4219C>T (p.Leu1407=) c.*1262C>T (n.*1262C>T) n.4553C>T c.3751C>T (p.Leu1251=) c.3184C>T (p.Leu1062=) | ClinVar dbSNP |
| 1 | g.11157189G>C | CA338371643 | MTOR | c.4432C>G (p.Leu1478Val) n.352C>G c.4219C>G (p.Leu1407Val) c.*1262C>G (n.*1262C>G) n.4553C>G c.3751C>G (p.Leu1251Val) c.3184C>G (p.Leu1062Val) | dbSNP |
| 1 | g.11157189G>T | CA338371647 | MTOR | c.4432C>A (p.Leu1478Met) n.352C>A c.4219C>A (p.Leu1407Met) c.*1262C>A (n.*1262C>A) n.4553C>A c.3751C>A (p.Leu1251Met) c.3184C>A (p.Leu1062Met) | |
| 1 | g.11157190C>A | CA338371651 | MTOR | c.4431G>T (p.Met1477Ile) n.351G>T c.4218G>T (p.Met1406Ile) c.*1261G>T (n.*1261G>T) n.4552G>T c.3750G>T (p.Met1250Ile) c.3183G>T (p.Met1061Ile) | |
| 1 | g.11157190C>G | CA338371649 | MTOR | c.4431G>C (p.Met1477Ile) n.351G>C c.4218G>C (p.Met1406Ile) c.*1261G>C (n.*1261G>C) n.4552G>C c.3750G>C (p.Met1250Ile) c.3183G>C (p.Met1061Ile) | dbSNP |
| 1 | g.11157190C>T | CA338371650 | MTOR | c.4431G>A (p.Met1477Ile) n.351G>A c.4218G>A (p.Met1406Ile) c.*1261G>A (n.*1261G>A) n.4552G>A c.3750G>A (p.Met1250Ile) c.3183G>A (p.Met1061Ile) | dbSNP |
| 1 | g.11157191A= | CA1148256947 | MTOR | c.4430T= (p.Met1477=) n.350T= c.4217T= (p.Met1406=) c.*1260T= (n.*1260T=) n.4551T= c.3749T= (p.Met1250=) c.3182T= (p.Met1061=) | |
| 1 | g.11157191A>C | CA338371652 | MTOR | c.4430T>G (p.Met1477Arg) n.350T>G c.4217T>G (p.Met1406Arg) c.*1260T>G (n.*1260T>G) n.4551T>G c.3749T>G (p.Met1250Arg) c.3182T>G (p.Met1061Arg) | dbSNP |
| 1 | g.11157191A>G | CA589646 | MTOR | c.4430T>C (p.Met1477Thr) n.350T>C c.4217T>C (p.Met1406Thr) c.*1260T>C (n.*1260T>C) n.4551T>C c.3749T>C (p.Met1250Thr) c.3182T>C (p.Met1061Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11157191A>T | CA338371656 | MTOR | c.4430T>A (p.Met1477Lys) n.350T>A c.4217T>A (p.Met1406Lys) c.*1260T>A (n.*1260T>A) n.4551T>A c.3749T>A (p.Met1250Lys) c.3182T>A (p.Met1061Lys) | dbSNP |
| 1 | g.11157192T>A | CA338371659 | MTOR | c.4429A>T (p.Met1477Leu) n.349A>T c.4216A>T (p.Met1406Leu) c.*1259A>T (n.*1259A>T) n.4550A>T c.3748A>T (p.Met1250Leu) c.3181A>T (p.Met1061Leu) | dbSNP |
| 1 | g.11157192T>C | CA338371661 | MTOR | c.4429A>G (p.Met1477Val) n.349A>G c.4216A>G (p.Met1406Val) c.*1259A>G (n.*1259A>G) n.4550A>G c.3748A>G (p.Met1250Val) c.3181A>G (p.Met1061Val) | dbSNP |
| 1 | g.11157192T>G | CA338371663 | MTOR | c.4429A>C (p.Met1477Leu) n.349A>C c.4216A>C (p.Met1406Leu) c.*1259A>C (n.*1259A>C) n.4550A>C c.3748A>C (p.Met1250Leu) c.3181A>C (p.Met1061Leu) | dbSNP |
| 1 | g.11157193C>A | CA415913605 | MTOR | c.4428G>T (p.Leu1476=) n.348G>T c.4215G>T (p.Leu1405=) c.*1258G>T (n.*1258G>T) n.4549G>T c.3747G>T (p.Leu1249=) c.3180G>T (p.Leu1060=) | |
| 1 | g.11157193C>G | CA415913606 | MTOR | c.4428G>C (p.Leu1476=) n.348G>C c.4215G>C (p.Leu1405=) c.*1258G>C (n.*1258G>C) n.4549G>C c.3747G>C (p.Leu1249=) c.3180G>C (p.Leu1060=) | dbSNP |
| 1 | g.11157193C>T | CA415913607 | MTOR | c.4428G>A (p.Leu1476=) n.348G>A c.4215G>A (p.Leu1405=) c.*1258G>A (n.*1258G>A) n.4549G>A c.3747G>A (p.Leu1249=) c.3180G>A (p.Leu1060=) | dbSNP |
| 1 | g.11157194A>C | CA338371667 | MTOR | c.4427T>G (p.Leu1476Arg) n.347T>G c.4214T>G (p.Leu1405Arg) c.*1257T>G (n.*1257T>G) n.4548T>G c.3746T>G (p.Leu1249Arg) c.3179T>G (p.Leu1060Arg) | |
| 1 | g.11157194A>G | CA338371670 | MTOR | c.4427T>C (p.Leu1476Pro) n.347T>C c.4214T>C (p.Leu1405Pro) c.*1257T>C (n.*1257T>C) n.4548T>C c.3746T>C (p.Leu1249Pro) c.3179T>C (p.Leu1060Pro) | dbSNP |
| 1 | g.11157194A>T | CA338371666 | MTOR | c.4427T>A (p.Leu1476Gln) n.347T>A c.4214T>A (p.Leu1405Gln) c.*1257T>A (n.*1257T>A) n.4548T>A c.3746T>A (p.Leu1249Gln) c.3179T>A (p.Leu1060Gln) | dbSNP |
| 1 | g.11157195G>A | CA415913609 | MTOR | c.4426C>T (p.Leu1476=) n.346C>T c.4213C>T (p.Leu1405=) c.*1256C>T (n.*1256C>T) n.4547C>T c.3745C>T (p.Leu1249=) c.3178C>T (p.Leu1060=) | dbSNP |
| 1 | g.11157195G>C | CA338371676 | MTOR | c.4426C>G (p.Leu1476Val) n.346C>G c.4213C>G (p.Leu1405Val) c.*1256C>G (n.*1256C>G) n.4547C>G c.3745C>G (p.Leu1249Val) c.3178C>G (p.Leu1060Val) | dbSNP |
| 1 | g.11157195G>T | CA338371678 | MTOR | c.4426C>A (p.Leu1476Met) n.346C>A c.4213C>A (p.Leu1405Met) c.*1256C>A (n.*1256C>A) n.4547C>A c.3745C>A (p.Leu1249Met) c.3178C>A (p.Leu1060Met) | |
| 1 | g.11157196C>A | CA338371682 | MTOR | c.4425G>T (p.Glu1475Asp) n.345G>T c.4212G>T (p.Glu1404Asp) c.*1255G>T (n.*1255G>T) n.4546G>T c.3744G>T (p.Glu1248Asp) c.3177G>T (p.Glu1059Asp) | dbSNP |
| 1 | g.11157196C>G | CA338371683 | MTOR | c.4425G>C (p.Glu1475Asp) n.345G>C c.4212G>C (p.Glu1404Asp) c.*1255G>C (n.*1255G>C) n.4546G>C c.3744G>C (p.Glu1248Asp) c.3177G>C (p.Glu1059Asp) | dbSNP |
| 1 | g.11157196C>T | CA415913612 | MTOR | c.4425G>A (p.Glu1475=) n.345G>A c.4212G>A (p.Glu1404=) c.*1255G>A (n.*1255G>A) n.4546G>A c.3744G>A (p.Glu1248=) c.3177G>A (p.Glu1059=) | dbSNP |
| 1 | g.11157197T>A | CA338371686 | MTOR | c.4424A>T (p.Glu1475Val) n.344A>T c.4211A>T (p.Glu1404Val) c.*1254A>T (n.*1254A>T) n.4545A>T c.3743A>T (p.Glu1248Val) c.3176A>T (p.Glu1059Val) | dbSNP |
| 1 | g.11157197T>C | CA338371687 | MTOR | c.4424A>G (p.Glu1475Gly) n.344A>G c.4211A>G (p.Glu1404Gly) c.*1254A>G (n.*1254A>G) n.4545A>G c.3743A>G (p.Glu1248Gly) c.3176A>G (p.Glu1059Gly) | dbSNP |
| 1 | g.11157197T>G | CA338371688 | MTOR | c.4424A>C (p.Glu1475Ala) n.344A>C c.4211A>C (p.Glu1404Ala) c.*1254A>C (n.*1254A>C) n.4545A>C c.3743A>C (p.Glu1248Ala) c.3176A>C (p.Glu1059Ala) | |
| 1 | g.11157197T= | CA1153537831 | MTOR | c.4424A= (p.Glu1475=) n.344A= c.4211A= (p.Glu1404=) c.*1254A= (n.*1254A=) n.4545A= c.3743A= (p.Glu1248=) c.3176A= (p.Glu1059=) | |
| 1 | g.11157198C>A | CA338371689 | MTOR | c.4423G>T (p.Glu1475Ter) n.343G>T c.4210G>T (p.Glu1404Ter) c.*1253G>T (n.*1253G>T) n.4544G>T c.3742G>T (p.Glu1248Ter) c.3175G>T (p.Glu1059Ter) | |
| 1 | g.11157198C= | CA1153537832 | MTOR | c.4423G= (p.Glu1475=) n.343G= c.4210G= (p.Glu1404=) c.*1253G= (n.*1253G=) n.4544G= c.3742G= (p.Glu1248=) c.3175G= (p.Glu1059=) | |
| 1 | g.11157198C>G | CA338371690 | MTOR | c.4423G>C (p.Glu1475Gln) n.343G>C c.4210G>C (p.Glu1404Gln) c.*1253G>C (n.*1253G>C) n.4544G>C c.3742G>C (p.Glu1248Gln) c.3175G>C (p.Glu1059Gln) | ClinVar dbSNP |
| 1 | g.11157198C>T | CA338371691 | MTOR | c.4423G>A (p.Glu1475Lys) n.343G>A c.4210G>A (p.Glu1404Lys) c.*1253G>A (n.*1253G>A) n.4544G>A c.3742G>A (p.Glu1248Lys) c.3175G>A (p.Glu1059Lys) | dbSNP gnomAD v4 |
| 1 | g.11157199T>A | CA415913617 | MTOR | c.4422A>T (p.Pro1474=) n.342A>T c.4209A>T (p.Pro1403=) c.*1252A>T (n.*1252A>T) n.4543A>T c.3741A>T (p.Pro1247=) c.3174A>T (p.Pro1058=) | |
| 1 | g.11157199T>C | CA415913618 | MTOR | c.4422A>G (p.Pro1474=) n.342A>G c.4209A>G (p.Pro1403=) c.*1252A>G (n.*1252A>G) n.4543A>G c.3741A>G (p.Pro1247=) c.3174A>G (p.Pro1058=) | |
| 1 | g.11157199T>G | CA415913619 | MTOR | c.4422A>C (p.Pro1474=) n.342A>C c.4209A>C (p.Pro1403=) c.*1252A>C (n.*1252A>C) n.4543A>C c.3741A>C (p.Pro1247=) c.3174A>C (p.Pro1058=) | |
| 1 | g.11157200G>A | CA338371693 | MTOR | c.4421C>T (p.Pro1474Leu) n.341C>T c.4208C>T (p.Pro1403Leu) c.*1251C>T (n.*1251C>T) n.4542C>T c.3740C>T (p.Pro1247Leu) c.3173C>T (p.Pro1058Leu) | dbSNP |
| 1 | g.11157200G>C | CA338371697 | MTOR | c.4421C>G (p.Pro1474Arg) n.341C>G c.4208C>G (p.Pro1403Arg) c.*1251C>G (n.*1251C>G) n.4542C>G c.3740C>G (p.Pro1247Arg) c.3173C>G (p.Pro1058Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.11157200G= | CA1153537838 | MTOR | c.4421C= (p.Pro1474=) n.341C= c.4208C= (p.Pro1403=) c.*1251C= (n.*1251C=) n.4542C= c.3740C= (p.Pro1247=) c.3173C= (p.Pro1058=) | |
| 1 | g.11157200G>T | CA338371699 | MTOR | c.4421C>A (p.Pro1474Gln) n.341C>A c.4208C>A (p.Pro1403Gln) c.*1251C>A (n.*1251C>A) n.4542C>A c.3740C>A (p.Pro1247Gln) c.3173C>A (p.Pro1058Gln) | dbSNP |
| 1 | g.11157201G>A | CA338371707 | MTOR | c.4420C>T (p.Pro1474Ser) n.340C>T c.4207C>T (p.Pro1403Ser) c.*1250C>T (n.*1250C>T) n.4541C>T c.3739C>T (p.Pro1247Ser) c.3172C>T (p.Pro1058Ser) | ClinVar dbSNP |
| 1 | g.11157201G>C | CA338371705 | MTOR | c.4420C>G (p.Pro1474Ala) n.340C>G c.4207C>G (p.Pro1403Ala) c.*1250C>G (n.*1250C>G) n.4541C>G c.3739C>G (p.Pro1247Ala) c.3172C>G (p.Pro1058Ala) | dbSNP |
| 1 | g.11157201G>T | CA338371701 | MTOR | c.4420C>A (p.Pro1474Thr) n.340C>A c.4207C>A (p.Pro1403Thr) c.*1250C>A (n.*1250C>A) n.4541C>A c.3739C>A (p.Pro1247Thr) c.3172C>A (p.Pro1058Thr) | dbSNP |
| 1 | g.11157202G>A | CA415913623 | MTOR | c.4419C>T (p.Asp1473=) n.339C>T c.4206C>T (p.Asp1402=) c.*1249C>T (n.*1249C>T) n.4540C>T c.3738C>T (p.Asp1246=) c.3171C>T (p.Asp1057=) | dbSNP |
| 1 | g.11157202G>C | CA338371710 | MTOR | c.4419C>G (p.Asp1473Glu) n.339C>G c.4206C>G (p.Asp1402Glu) c.*1249C>G (n.*1249C>G) n.4540C>G c.3738C>G (p.Asp1246Glu) c.3171C>G (p.Asp1057Glu) | dbSNP |
| 1 | g.11157202G>T | CA338371711 | MTOR | c.4419C>A (p.Asp1473Glu) n.339C>A c.4206C>A (p.Asp1402Glu) c.*1249C>A (n.*1249C>A) n.4540C>A c.3738C>A (p.Asp1246Glu) c.3171C>A (p.Asp1057Glu) | |
| 1 | g.11157203T>A | CA338371713 | MTOR | c.4418A>T (p.Asp1473Val) n.338A>T c.4205A>T (p.Asp1402Val) c.*1248A>T (n.*1248A>T) n.4539A>T c.3737A>T (p.Asp1246Val) c.3170A>T (p.Asp1057Val) | dbSNP |
| 1 | g.11157203T>C | CA338371715 | MTOR | c.4418A>G (p.Asp1473Gly) n.338A>G c.4205A>G (p.Asp1402Gly) c.*1248A>G (n.*1248A>G) n.4539A>G c.3737A>G (p.Asp1246Gly) c.3170A>G (p.Asp1057Gly) | dbSNP |
| 1 | g.11157203T>G | CA338371717 | MTOR | c.4418A>C (p.Asp1473Ala) n.338A>C c.4205A>C (p.Asp1402Ala) c.*1248A>C (n.*1248A>C) n.4539A>C c.3737A>C (p.Asp1246Ala) c.3170A>C (p.Asp1057Ala) | dbSNP |
| 1 | g.11157204C>A | CA338371720 | MTOR | c.4417G>T (p.Asp1473Tyr) n.337G>T c.4204G>T (p.Asp1402Tyr) c.*1247G>T (n.*1247G>T) n.4538G>T c.3736G>T (p.Asp1246Tyr) c.3169G>T (p.Asp1057Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.11157204C= | CA1153537848 | MTOR | c.4417G= (p.Asp1473=) n.337G= c.4204G= (p.Asp1402=) c.*1247G= (n.*1247G=) n.4538G= c.3736G= (p.Asp1246=) c.3169G= (p.Asp1057=) | |
| 1 | g.11157204C>G | CA338371723 | MTOR | c.4417G>C (p.Asp1473His) n.337G>C c.4204G>C (p.Asp1402His) c.*1247G>C (n.*1247G>C) n.4538G>C c.3736G>C (p.Asp1246His) c.3169G>C (p.Asp1057His) | ClinVar gnomAD v4 COSMIC |
| 1 | g.11157204C>T | CA338371725 | MTOR | c.4417G>A (p.Asp1473Asn) n.337G>A c.4204G>A (p.Asp1402Asn) c.*1247G>A (n.*1247G>A) n.4538G>A c.3736G>A (p.Asp1246Asn) c.3169G>A (p.Asp1057Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.11157205G>A | CA589647 | MTOR | c.4416C>T (p.Asp1472=) n.336C>T c.4203C>T (p.Asp1401=) c.*1246C>T (n.*1246C>T) n.4537C>T c.3735C>T (p.Asp1245=) c.3168C>T (p.Asp1056=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11157205G>C | CA338371729 | MTOR | c.4416C>G (p.Asp1472Glu) n.336C>G c.4203C>G (p.Asp1401Glu) c.*1246C>G (n.*1246C>G) n.4537C>G c.3735C>G (p.Asp1245Glu) c.3168C>G (p.Asp1056Glu) | dbSNP |
| 1 | g.11157205G= | CA1140466490 | MTOR | c.4416C= (p.Asp1472=) n.336C= c.4203C= (p.Asp1401=) c.*1246C= (n.*1246C=) n.4537C= c.3735C= (p.Asp1245=) c.3168C= (p.Asp1056=) | |
| 1 | g.11157205G>T | CA338371733 | MTOR | c.4416C>A (p.Asp1472Glu) n.336C>A c.4203C>A (p.Asp1401Glu) c.*1246C>A (n.*1246C>A) n.4537C>A c.3735C>A (p.Asp1245Glu) c.3168C>A (p.Asp1056Glu) | gnomAD v4 |
| 1 | g.11157206T>A | CA338371734 | MTOR | c.4415A>T (p.Asp1472Val) n.335A>T c.4202A>T (p.Asp1401Val) c.*1245A>T (n.*1245A>T) n.4536A>T c.3734A>T (p.Asp1245Val) c.3167A>T (p.Asp1056Val) | dbSNP gnomAD v4 |
| 1 | g.11157206T>C | CA589648 | MTOR | c.4415A>G (p.Asp1472Gly) n.335A>G c.4202A>G (p.Asp1401Gly) c.*1245A>G (n.*1245A>G) n.4536A>G c.3734A>G (p.Asp1245Gly) c.3167A>G (p.Asp1056Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.11157206T>G | CA338371738 | MTOR | c.4415A>C (p.Asp1472Ala) n.335A>C c.4202A>C (p.Asp1401Ala) c.*1245A>C (n.*1245A>C) n.4536A>C c.3734A>C (p.Asp1245Ala) c.3167A>C (p.Asp1056Ala) | dbSNP |
| 1 | g.11157206T= | CA1153537855 | MTOR | c.4415A= (p.Asp1472=) n.335A= c.4202A= (p.Asp1401=) c.*1245A= (n.*1245A=) n.4536A= c.3734A= (p.Asp1245=) c.3167A= (p.Asp1056=) | |
| 1 | g.11157207C>A | CA338371743 | MTOR | c.4414G>T (p.Asp1472Tyr) n.334G>T c.4201G>T (p.Asp1401Tyr) c.*1244G>T (n.*1244G>T) n.4535G>T c.3733G>T (p.Asp1245Tyr) c.3166G>T (p.Asp1056Tyr) | dbSNP |
| 1 | g.11157207C>G | CA338371745 | MTOR | c.4414G>C (p.Asp1472His) n.334G>C c.4201G>C (p.Asp1401His) c.*1244G>C (n.*1244G>C) n.4535G>C c.3733G>C (p.Asp1245His) c.3166G>C (p.Asp1056His) | dbSNP |
| 1 | g.11157207C>T | CA338371741 | MTOR | c.4414G>A (p.Asp1472Asn) n.334G>A c.4201G>A (p.Asp1401Asn) c.*1244G>A (n.*1244G>A) n.4535G>A c.3733G>A (p.Asp1245Asn) c.3166G>A (p.Asp1056Asn) | dbSNP |
| 1 | g.11157208del | CA2573051342 | MTOR | c.4414del (p.Asp1472ThrfsTer5) n.334del c.4201del (p.Asp1401ThrfsTer5) c.*1244del (n.*1244del) n.4535del c.3733del (p.Asp1245ThrfsTer5) c.3166del (p.Asp1056ThrfsTer5) | ClinVar dbSNP |
| 1 | g.11157208C>A | CA338371746 | MTOR | c.4413G>T (p.Lys1471Asn) n.333G>T c.4200G>T (p.Lys1400Asn) c.*1243G>T (n.*1243G>T) n.4534G>T c.3732G>T (p.Lys1244Asn) c.3165G>T (p.Lys1055Asn) | dbSNP |
| 1 | g.11157208C>G | CA338371748 | MTOR | c.4413G>C (p.Lys1471Asn) n.333G>C c.4200G>C (p.Lys1400Asn) c.*1243G>C (n.*1243G>C) n.4534G>C c.3732G>C (p.Lys1244Asn) c.3165G>C (p.Lys1055Asn) | dbSNP |
| 1 | g.11157208C>T | CA415913628 | MTOR | c.4413G>A (p.Lys1471=) n.333G>A c.4200G>A (p.Lys1400=) c.*1243G>A (n.*1243G>A) n.4534G>A c.3732G>A (p.Lys1244=) c.3165G>A (p.Lys1055=) | dbSNP |
| 1 | g.11157209T>A | CA338371752 | MTOR | c.4412A>T (p.Lys1471Met) n.332A>T c.4199A>T (p.Lys1400Met) c.*1242A>T (n.*1242A>T) n.4533A>T c.3731A>T (p.Lys1244Met) c.3164A>T (p.Lys1055Met) | dbSNP |
| 1 | g.11157209T>C | CA338371754 | MTOR | c.4412A>G (p.Lys1471Arg) n.332A>G c.4199A>G (p.Lys1400Arg) c.*1242A>G (n.*1242A>G) n.4533A>G c.3731A>G (p.Lys1244Arg) c.3164A>G (p.Lys1055Arg) | ClinVar dbSNP |
| 1 | g.11157209T>G | CA338371757 | MTOR | c.4412A>C (p.Lys1471Thr) n.332A>C c.4199A>C (p.Lys1400Thr) c.*1242A>C (n.*1242A>C) n.4533A>C c.3731A>C (p.Lys1244Thr) c.3164A>C (p.Lys1055Thr) | |
| 1 | g.11157209T= | CA1153537858 | MTOR | c.4412A= (p.Lys1471=) n.332A= c.4199A= (p.Lys1400=) c.*1242A= (n.*1242A=) n.4533A= c.3731A= (p.Lys1244=) c.3164A= (p.Lys1055=) | |
| 1 | g.11157210T>A | CA338371760 | MTOR | c.4411A>T (p.Lys1471Ter) n.331A>T c.4198A>T (p.Lys1400Ter) c.*1241A>T (n.*1241A>T) n.4532A>T c.3730A>T (p.Lys1244Ter) c.3163A>T (p.Lys1055Ter) | |
| 1 | g.11157210T>C | CA338371762 | MTOR | c.4411A>G (p.Lys1471Glu) n.331A>G c.4198A>G (p.Lys1400Glu) c.*1241A>G (n.*1241A>G) n.4532A>G c.3730A>G (p.Lys1244Glu) c.3163A>G (p.Lys1055Glu) | gnomAD v4 |
| 1 | g.11157210T>G | CA338371764 | MTOR | c.4411A>C (p.Lys1471Gln) n.331A>C c.4198A>C (p.Lys1400Gln) c.*1241A>C (n.*1241A>C) n.4532A>C c.3730A>C (p.Lys1244Gln) c.3163A>C (p.Lys1055Gln) | |
| 1 | g.11157211G>A | CA415913633 | MTOR | c.4410C>T (p.Asn1470=) n.330C>T c.4197C>T (p.Asn1399=) c.*1240C>T (n.*1240C>T) n.4531C>T c.3729C>T (p.Asn1243=) c.3162C>T (p.Asn1054=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11157211G>C | CA338371767 | MTOR | c.4410C>G (p.Asn1470Lys) n.330C>G c.4197C>G (p.Asn1399Lys) c.*1240C>G (n.*1240C>G) n.4531C>G c.3729C>G (p.Asn1243Lys) c.3162C>G (p.Asn1054Lys) | ClinVar dbSNP |
| 1 | g.11157211G= | CA1153537864 | MTOR | c.4410C= (p.Asn1470=) n.330C= c.4197C= (p.Asn1399=) c.*1240C= (n.*1240C=) n.4531C= c.3729C= (p.Asn1243=) c.3162C= (p.Asn1054=) | |
| 1 | g.11157211G>T | CA338371770 | MTOR | c.4410C>A (p.Asn1470Lys) n.330C>A c.4197C>A (p.Asn1399Lys) c.*1240C>A (n.*1240C>A) n.4531C>A c.3729C>A (p.Asn1243Lys) c.3162C>A (p.Asn1054Lys) | dbSNP |
| 1 | g.11157212T>A | CA338371772 | MTOR | c.4409A>T (p.Asn1470Ile) n.329A>T c.4196A>T (p.Asn1399Ile) c.*1239A>T (n.*1239A>T) n.4530A>T c.3728A>T (p.Asn1243Ile) c.3161A>T (p.Asn1054Ile) | dbSNP |
| 1 | g.11157212T>C | CA338371775 | MTOR | c.4409A>G (p.Asn1470Ser) n.329A>G c.4196A>G (p.Asn1399Ser) c.*1239A>G (n.*1239A>G) n.4530A>G c.3728A>G (p.Asn1243Ser) c.3161A>G (p.Asn1054Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11157212T>G | CA338371777 | MTOR | c.4409A>C (p.Asn1470Thr) n.329A>C c.4196A>C (p.Asn1399Thr) c.*1239A>C (n.*1239A>C) n.4530A>C c.3728A>C (p.Asn1243Thr) c.3161A>C (p.Asn1054Thr) | dbSNP |
| 1 | g.11157212T= | CA1153537870 | MTOR | c.4409A= (p.Asn1470=) n.329A= c.4196A= (p.Asn1399=) c.*1239A= (n.*1239A=) n.4530A= c.3728A= (p.Asn1243=) c.3161A= (p.Asn1054=) | |
| 1 | g.11157213T>A | CA338371779 | MTOR | c.4408A>T (p.Asn1470Tyr) n.328A>T c.4195A>T (p.Asn1399Tyr) c.*1238A>T (n.*1238A>T) n.4529A>T c.3727A>T (p.Asn1243Tyr) c.3160A>T (p.Asn1054Tyr) | dbSNP |
| 1 | g.11157213T>C | CA338371784 | MTOR | c.4408A>G (p.Asn1470Asp) n.328A>G c.4195A>G (p.Asn1399Asp) c.*1238A>G (n.*1238A>G) n.4529A>G c.3727A>G (p.Asn1243Asp) c.3160A>G (p.Asn1054Asp) | dbSNP gnomAD v4 |
| 1 | g.11157213T>G | CA338371782 | MTOR | c.4408A>C (p.Asn1470His) n.328A>C c.4195A>C (p.Asn1399His) c.*1238A>C (n.*1238A>C) n.4529A>C c.3727A>C (p.Asn1243His) c.3160A>C (p.Asn1054His) | dbSNP |
| 1 | g.11157214G>A | CA415913634 | MTOR | c.4407C>T (p.Thr1469=) n.327C>T c.4194C>T (p.Thr1398=) c.*1237C>T (n.*1237C>T) n.4528C>T c.3726C>T (p.Thr1242=) c.3159C>T (p.Thr1053=) | dbSNP gnomAD v4 |
| 1 | g.11157214G>C | CA415913635 | MTOR | c.4407C>G (p.Thr1469=) n.327C>G c.4194C>G (p.Thr1398=) c.*1237C>G (n.*1237C>G) n.4528C>G c.3726C>G (p.Thr1242=) c.3159C>G (p.Thr1053=) | dbSNP |
| 1 | g.11157214G= | CA1153537874 | MTOR | c.4407C= (p.Thr1469=) n.327C= c.4194C= (p.Thr1398=) c.*1237C= (n.*1237C=) n.4528C= c.3726C= (p.Thr1242=) c.3159C= (p.Thr1053=) | |
| 1 | g.11157214G>T | CA415913637 | MTOR | c.4407C>A (p.Thr1469=) n.327C>A c.4194C>A (p.Thr1398=) c.*1237C>A (n.*1237C>A) n.4528C>A c.3726C>A (p.Thr1242=) c.3159C>A (p.Thr1053=) | dbSNP COSMIC |
| 1 | g.11157215G>A | CA338371787 | MTOR | c.4406C>T (p.Thr1469Ile) n.326C>T c.4193C>T (p.Thr1398Ile) c.*1236C>T (n.*1236C>T) n.4527C>T c.3725C>T (p.Thr1242Ile) c.3158C>T (p.Thr1053Ile) | dbSNP |
| 1 | g.11157215G>C | CA338371789 | MTOR | c.4406C>G (p.Thr1469Ser) n.326C>G c.4193C>G (p.Thr1398Ser) c.*1236C>G (n.*1236C>G) n.4527C>G c.3725C>G (p.Thr1242Ser) c.3158C>G (p.Thr1053Ser) | dbSNP |
| 1 | g.11157215G>T | CA338371792 | MTOR | c.4406C>A (p.Thr1469Asn) n.326C>A c.4193C>A (p.Thr1398Asn) c.*1236C>A (n.*1236C>A) n.4527C>A c.3725C>A (p.Thr1242Asn) c.3158C>A (p.Thr1053Asn) | dbSNP |
| 1 | g.11157216T>A | CA338371793 | MTOR | c.4405A>T (p.Thr1469Ser) n.325A>T c.4192A>T (p.Thr1398Ser) c.*1235A>T (n.*1235A>T) n.4526A>T c.3724A>T (p.Thr1242Ser) c.3157A>T (p.Thr1053Ser) | dbSNP |
| 1 | g.11157216T>C | CA338371796 | MTOR | c.4405A>G (p.Thr1469Ala) n.325A>G c.4192A>G (p.Thr1398Ala) c.*1235A>G (n.*1235A>G) n.4526A>G c.3724A>G (p.Thr1242Ala) c.3157A>G (p.Thr1053Ala) | |
| 1 | g.11157216T>G | CA338371799 | MTOR | c.4405A>C (p.Thr1469Pro) n.325A>C c.4192A>C (p.Thr1398Pro) c.*1235A>C (n.*1235A>C) n.4526A>C c.3724A>C (p.Thr1242Pro) c.3157A>C (p.Thr1053Pro) | dbSNP |
| 1 | g.11157217G>A | CA415913643 | MTOR | c.4404C>T (p.Asp1468=) n.324C>T c.4191C>T (p.Asp1397=) c.*1234C>T (n.*1234C>T) n.4525C>T c.3723C>T (p.Asp1241=) c.3156C>T (p.Asp1052=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.11157217G>C | CA338371801 | MTOR | c.4404C>G (p.Asp1468Glu) n.324C>G c.4191C>G (p.Asp1397Glu) c.*1234C>G (n.*1234C>G) n.4525C>G c.3723C>G (p.Asp1241Glu) c.3156C>G (p.Asp1052Glu) | dbSNP |
| 1 | g.11157217G= | CA1153537880 | MTOR | c.4404C= (p.Asp1468=) n.324C= c.4191C= (p.Asp1397=) c.*1234C= (n.*1234C=) n.4525C= c.3723C= (p.Asp1241=) c.3156C= (p.Asp1052=) | |
| 1 | g.11157217G>T | CA338371802 | MTOR | c.4404C>A (p.Asp1468Glu) n.324C>A c.4191C>A (p.Asp1397Glu) c.*1234C>A (n.*1234C>A) n.4525C>A c.3723C>A (p.Asp1241Glu) c.3156C>A (p.Asp1052Glu) | dbSNP |
| 1 | g.11157218T>A | CA338371804 | MTOR | c.4403A>T (p.Asp1468Val) n.323A>T c.4190A>T (p.Asp1397Val) c.*1233A>T (n.*1233A>T) n.4524A>T c.3722A>T (p.Asp1241Val) c.3155A>T (p.Asp1052Val) | |
| 1 | g.11157218T>C | CA338371805 | MTOR | c.4403A>G (p.Asp1468Gly) n.323A>G c.4190A>G (p.Asp1397Gly) c.*1233A>G (n.*1233A>G) n.4524A>G c.3722A>G (p.Asp1241Gly) c.3155A>G (p.Asp1052Gly) | dbSNP gnomAD v4 |
| 1 | g.11157218T>G | CA338371809 | MTOR | c.4403A>C (p.Asp1468Ala) n.323A>C c.4190A>C (p.Asp1397Ala) c.*1233A>C (n.*1233A>C) n.4524A>C c.3722A>C (p.Asp1241Ala) c.3155A>C (p.Asp1052Ala) | |
| 1 | g.11157219C>A | CA338371812 | MTOR | c.4402G>T (p.Asp1468Tyr) n.322G>T c.4189G>T (p.Asp1397Tyr) c.*1232G>T (n.*1232G>T) n.4523G>T c.3721G>T (p.Asp1241Tyr) c.3154G>T (p.Asp1052Tyr) | dbSNP |
| 1 | g.11157219C= | CA1153537883 | MTOR | c.4402G= (p.Asp1468=) n.322G= c.4189G= (p.Asp1397=) c.*1232G= (n.*1232G=) n.4523G= c.3721G= (p.Asp1241=) c.3154G= (p.Asp1052=) | |
| 1 | g.11157219C>G | CA338371814 | MTOR | c.4402G>C (p.Asp1468His) n.322G>C c.4189G>C (p.Asp1397His) c.*1232G>C (n.*1232G>C) n.4523G>C c.3721G>C (p.Asp1241His) c.3154G>C (p.Asp1052His) | |
| 1 | g.11157219C>T | CA338371811 | MTOR | c.4402G>A (p.Asp1468Asn) n.322G>A c.4189G>A (p.Asp1397Asn) c.*1232G>A (n.*1232G>A) n.4523G>A c.3721G>A (p.Asp1241Asn) c.3154G>A (p.Asp1052Asn) | ClinVar dbSNP |
| 1 | g.11157220C>A | CA338371819 | MTOR | c.4401G>T (p.Met1467Ile) n.321G>T c.4188G>T (p.Met1396Ile) c.*1231G>T (n.*1231G>T) n.4522G>T c.3720G>T (p.Met1240Ile) c.3153G>T (p.Met1051Ile) | dbSNP COSMIC |
| 1 | g.11157220C= | CA1153537886 | MTOR | c.4401G= (p.Met1467=) n.321G= c.4188G= (p.Met1396=) c.*1231G= (n.*1231G=) n.4522G= c.3720G= (p.Met1240=) c.3153G= (p.Met1051=) | |
| 1 | g.11157220C>G | CA338371816 | MTOR | c.4401G>C (p.Met1467Ile) n.321G>C c.4188G>C (p.Met1396Ile) c.*1231G>C (n.*1231G>C) n.4522G>C c.3720G>C (p.Met1240Ile) c.3153G>C (p.Met1051Ile) | dbSNP |
| 1 | g.11157220C>T | CA338371821 | MTOR | c.4401G>A (p.Met1467Ile) n.321G>A c.4188G>A (p.Met1396Ile) c.*1231G>A (n.*1231G>A) n.4522G>A c.3720G>A (p.Met1240Ile) c.3153G>A (p.Met1051Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.11157221A>C | CA338371823 | MTOR | c.4400T>G (p.Met1467Arg) n.320T>G c.4187T>G (p.Met1396Arg) c.*1230T>G (n.*1230T>G) n.4521T>G c.3719T>G (p.Met1240Arg) c.3152T>G (p.Met1051Arg) | dbSNP gnomAD v4 |
| 1 | g.11157221A>G | CA338371827 | MTOR | c.4400T>C (p.Met1467Thr) n.320T>C c.4187T>C (p.Met1396Thr) c.*1230T>C (n.*1230T>C) n.4521T>C c.3719T>C (p.Met1240Thr) c.3152T>C (p.Met1051Thr) | ClinVar |
| 1 | g.11157221A>T | CA338371828 | MTOR | c.4400T>A (p.Met1467Lys) n.320T>A c.4187T>A (p.Met1396Lys) c.*1230T>A (n.*1230T>A) n.4521T>A c.3719T>A (p.Met1240Lys) c.3152T>A (p.Met1051Lys) | dbSNP |
| 1 | g.11157222T>A | CA338371829 | MTOR | c.4399A>T (p.Met1467Leu) n.319A>T c.4186A>T (p.Met1396Leu) c.*1229A>T (n.*1229A>T) n.4520A>T c.3718A>T (p.Met1240Leu) c.3151A>T (p.Met1051Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.11157222T>C | CA589649 | MTOR | c.4399A>G (p.Met1467Val) n.319A>G c.4186A>G (p.Met1396Val) c.*1229A>G (n.*1229A>G) n.4520A>G c.3718A>G (p.Met1240Val) c.3151A>G (p.Met1051Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11157222T>G | CA338371834 | MTOR | c.4399A>C (p.Met1467Leu) n.319A>C c.4186A>C (p.Met1396Leu) c.*1229A>C (n.*1229A>C) n.4520A>C c.3718A>C (p.Met1240Leu) c.3151A>C (p.Met1051Leu) | dbSNP |
| 1 | g.11157222T= | CA1143504501 | MTOR | c.4399A= (p.Met1467=) n.319A= c.4186A= (p.Met1396=) c.*1229A= (n.*1229A=) n.4520A= c.3718A= (p.Met1240=) c.3151A= (p.Met1051=) | |
| 1 | g.11157223T>A | CA338371837 | MTOR | c.4398A>T (p.Lys1466Asn) n.318A>T c.4185A>T (p.Lys1395Asn) c.*1228A>T (n.*1228A>T) n.4519A>T c.3717A>T (p.Lys1239Asn) c.3150A>T (p.Lys1050Asn) | dbSNP |
| 1 | g.11157223T>C | CA589650 | MTOR | c.4398A>G (p.Lys1466=) n.318A>G c.4185A>G (p.Lys1395=) c.*1228A>G (n.*1228A>G) n.4519A>G c.3717A>G (p.Lys1239=) c.3150A>G (p.Lys1050=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11157223T>G | CA338371840 | MTOR | c.4398A>C (p.Lys1466Asn) n.318A>C c.4185A>C (p.Lys1395Asn) c.*1228A>C (n.*1228A>C) n.4519A>C c.3717A>C (p.Lys1239Asn) c.3150A>C (p.Lys1050Asn) | |
| 1 | g.11157223T= | CA1153537892 | MTOR | c.4398A= (p.Lys1466=) n.318A= c.4185A= (p.Lys1395=) c.*1228A= (n.*1228A=) n.4519A= c.3717A= (p.Lys1239=) c.3150A= (p.Lys1050=) | |
| 1 | g.11157224T>A | CA338371843 | MTOR | c.4397A>T (p.Lys1466Ile) n.317A>T c.4184A>T (p.Lys1395Ile) c.*1227A>T (n.*1227A>T) n.4518A>T c.3716A>T (p.Lys1239Ile) c.3149A>T (p.Lys1050Ile) | dbSNP |
| 1 | g.11157224T>C | CA338371846 | MTOR | c.4397A>G (p.Lys1466Arg) n.317A>G c.4184A>G (p.Lys1395Arg) c.*1227A>G (n.*1227A>G) n.4518A>G c.3716A>G (p.Lys1239Arg) c.3149A>G (p.Lys1050Arg) | |
| 1 | g.11157224T>G | CA338371849 | MTOR | c.4397A>C (p.Lys1466Thr) n.317A>C c.4184A>C (p.Lys1395Thr) c.*1227A>C (n.*1227A>C) n.4518A>C c.3716A>C (p.Lys1239Thr) c.3149A>C (p.Lys1050Thr) | |
| 1 | g.11157225T>A | CA338371855 | MTOR | c.4396A>T (p.Lys1466Ter) n.316A>T c.4183A>T (p.Lys1395Ter) c.*1226A>T (n.*1226A>T) n.4517A>T c.3715A>T (p.Lys1239Ter) c.3148A>T (p.Lys1050Ter) | dbSNP |
| 1 | g.11157225T>C | CA338371852 | MTOR | c.4396A>G (p.Lys1466Glu) n.316A>G c.4183A>G (p.Lys1395Glu) c.*1226A>G (n.*1226A>G) n.4517A>G c.3715A>G (p.Lys1239Glu) c.3148A>G (p.Lys1050Glu) | dbSNP |
| 1 | g.11157225T>G | CA338371851 | MTOR | c.4396A>C (p.Lys1466Gln) n.316A>C c.4183A>C (p.Lys1395Gln) c.*1226A>C (n.*1226A>C) n.4517A>C c.3715A>C (p.Lys1239Gln) c.3148A>C (p.Lys1050Gln) | |
| 1 | g.11157226C>A | CA338371857 | MTOR | c.4395G>T (p.Lys1465Asn) n.315G>T c.4182G>T (p.Lys1394Asn) c.*1225G>T (n.*1225G>T) n.4516G>T c.3714G>T (p.Lys1238Asn) c.3147G>T (p.Lys1049Asn) | |
| 1 | g.11157226C>G | CA338371859 | MTOR | c.4395G>C (p.Lys1465Asn) n.315G>C c.4182G>C (p.Lys1394Asn) c.*1225G>C (n.*1225G>C) n.4516G>C c.3714G>C (p.Lys1238Asn) c.3147G>C (p.Lys1049Asn) | COSMIC |
| 1 | g.11157226C>T | CA415913651 | MTOR | c.4395G>A (p.Lys1465=) n.315G>A c.4182G>A (p.Lys1394=) c.*1225G>A (n.*1225G>A) n.4516G>A c.3714G>A (p.Lys1238=) c.3147G>A (p.Lys1049=) | dbSNP |
| 1 | g.11157227T>A | CA338371861 | MTOR | c.4394A>T (p.Lys1465Met) n.314A>T c.4181A>T (p.Lys1394Met) c.*1224A>T (n.*1224A>T) n.4515A>T c.3713A>T (p.Lys1238Met) c.3146A>T (p.Lys1049Met) | dbSNP |
| 1 | g.11157227T>C | CA338371863 | MTOR | c.4394A>G (p.Lys1465Arg) n.314A>G c.4181A>G (p.Lys1394Arg) c.*1224A>G (n.*1224A>G) n.4515A>G c.3713A>G (p.Lys1238Arg) c.3146A>G (p.Lys1049Arg) | |
| 1 | g.11157227T>G | CA338371865 | MTOR | c.4394A>C (p.Lys1465Thr) n.314A>C c.4181A>C (p.Lys1394Thr) c.*1224A>C (n.*1224A>C) n.4515A>C c.3713A>C (p.Lys1238Thr) c.3146A>C (p.Lys1049Thr) | |
| 1 | g.11157228T>A | CA338371868 | MTOR | c.4393A>T (p.Lys1465Ter) n.313A>T c.4180A>T (p.Lys1394Ter) c.*1223A>T (n.*1223A>T) n.4514A>T c.3712A>T (p.Lys1238Ter) c.3145A>T (p.Lys1049Ter) | dbSNP |
| 1 | g.11157228T>C | CA338371871 | MTOR | c.4393A>G (p.Lys1465Glu) n.313A>G c.4180A>G (p.Lys1394Glu) c.*1223A>G (n.*1223A>G) n.4514A>G c.3712A>G (p.Lys1238Glu) c.3145A>G (p.Lys1049Glu) | |
| 1 | g.11157228T>G | CA589651 | MTOR | c.4393A>C (p.Lys1465Gln) n.313A>C c.4180A>C (p.Lys1394Gln) c.*1223A>C (n.*1223A>C) n.4514A>C c.3712A>C (p.Lys1238Gln) c.3145A>C (p.Lys1049Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.11157228T= | CA1153537896 | MTOR | c.4393A= (p.Lys1465=) n.313A= c.4180A= (p.Lys1394=) c.*1223A= (n.*1223A=) n.4514A= c.3712A= (p.Lys1238=) c.3145A= (p.Lys1049=) | |
| 1 | g.11157229G>A | CA415913653 | MTOR | c.4392C>T (p.Asp1464=) n.312C>T c.4179C>T (p.Asp1393=) c.*1222C>T (n.*1222C>T) n.4513C>T c.3711C>T (p.Asp1237=) c.3144C>T (p.Asp1048=) | dbSNP |
| 1 | g.11157229G>C | CA338371874 | MTOR | c.4392C>G (p.Asp1464Glu) n.312C>G c.4179C>G (p.Asp1393Glu) c.*1222C>G (n.*1222C>G) n.4513C>G c.3711C>G (p.Asp1237Glu) c.3144C>G (p.Asp1048Glu) | dbSNP |
| 1 | g.11157229G>T | CA338371877 | MTOR | c.4392C>A (p.Asp1464Glu) n.312C>A c.4179C>A (p.Asp1393Glu) c.*1222C>A (n.*1222C>A) n.4513C>A c.3711C>A (p.Asp1237Glu) c.3144C>A (p.Asp1048Glu) | |
| 1 | g.11157230T>A | CA338371887 | MTOR | c.4391A>T (p.Asp1464Val) n.311A>T c.4178A>T (p.Asp1393Val) c.*1221A>T (n.*1221A>T) n.4512A>T c.3710A>T (p.Asp1237Val) c.3143A>T (p.Asp1048Val) | dbSNP |
| 1 | g.11157230T>C | CA338371890 | MTOR | c.4391A>G (p.Asp1464Gly) n.311A>G c.4178A>G (p.Asp1393Gly) c.*1221A>G (n.*1221A>G) n.4512A>G c.3710A>G (p.Asp1237Gly) c.3143A>G (p.Asp1048Gly) | dbSNP |
| 1 | g.11157230T>G | CA338371892 | MTOR | c.4391A>C (p.Asp1464Ala) n.311A>C c.4178A>C (p.Asp1393Ala) c.*1221A>C (n.*1221A>C) n.4512A>C c.3710A>C (p.Asp1237Ala) c.3143A>C (p.Asp1048Ala) | dbSNP |
| 1 | g.11157231C>A | CA338371908 | MTOR | c.4390G>T (p.Asp1464Tyr) n.310G>T c.4177G>T (p.Asp1393Tyr) c.*1220G>T (n.*1220G>T) n.4511G>T c.3709G>T (p.Asp1237Tyr) c.3142G>T (p.Asp1048Tyr) | ClinVar dbSNP |
| 1 | g.11157231C>G | CA338371904 | MTOR | c.4390G>C (p.Asp1464His) n.310G>C c.4177G>C (p.Asp1393His) c.*1220G>C (n.*1220G>C) n.4511G>C c.3709G>C (p.Asp1237His) c.3142G>C (p.Asp1048His) | dbSNP |
| 1 | g.11157231C>T | CA338371894 | MTOR | c.4390G>A (p.Asp1464Asn) n.310G>A c.4177G>A (p.Asp1393Asn) c.*1220G>A (n.*1220G>A) n.4511G>A c.3709G>A (p.Asp1237Asn) c.3142G>A (p.Asp1048Asn) | dbSNP |
| 1 | g.11157232A>C | CA338371914 | MTOR | c.4389T>G (p.Tyr1463Ter) n.309T>G c.4176T>G (p.Tyr1392Ter) c.*1219T>G (n.*1219T>G) n.4510T>G c.3708T>G (p.Tyr1236Ter) c.3141T>G (p.Tyr1047Ter) | dbSNP |
| 1 | g.11157232A>G | CA415913656 | MTOR | c.4389T>C (p.Tyr1463=) n.309T>C c.4176T>C (p.Tyr1392=) c.*1219T>C (n.*1219T>C) n.4510T>C c.3708T>C (p.Tyr1236=) c.3141T>C (p.Tyr1047=) | gnomAD v4 COSMIC |
| 1 | g.11157232A>T | CA338371912 | MTOR | c.4389T>A (p.Tyr1463Ter) n.309T>A c.4176T>A (p.Tyr1392Ter) c.*1219T>A (n.*1219T>A) n.4510T>A c.3708T>A (p.Tyr1236Ter) c.3141T>A (p.Tyr1047Ter) | dbSNP |
| 1 | g.11157233T>A | CA338371917 | MTOR | c.4388A>T (p.Tyr1463Phe) n.308A>T c.4175A>T (p.Tyr1392Phe) c.*1218A>T (n.*1218A>T) n.4509A>T c.3707A>T (p.Tyr1236Phe) c.3140A>T (p.Tyr1047Phe) | dbSNP |
| 1 | g.11157233T>C | CA338371920 | MTOR | c.4388A>G (p.Tyr1463Cys) n.308A>G c.4175A>G (p.Tyr1392Cys) c.*1218A>G (n.*1218A>G) n.4509A>G c.3707A>G (p.Tyr1236Cys) c.3140A>G (p.Tyr1047Cys) | dbSNP |
| 1 | g.11157233T>G | CA338371924 | MTOR | c.4388A>C (p.Tyr1463Ser) n.308A>C c.4175A>C (p.Tyr1392Ser) c.*1218A>C (n.*1218A>C) n.4509A>C c.3707A>C (p.Tyr1236Ser) c.3140A>C (p.Tyr1047Ser) | dbSNP COSMIC |
| 1 | g.11157234A= | CA1153537900 | MTOR | c.4387T= (p.Tyr1463=) n.307T= c.4174T= (p.Tyr1392=) c.*1217T= (n.*1217T=) n.4508T= c.3706T= (p.Tyr1236=) c.3139T= (p.Tyr1047=) | |
| 1 | g.11157234A>C | CA338371928 | MTOR | c.4387T>G (p.Tyr1463Asp) n.307T>G c.4174T>G (p.Tyr1392Asp) c.*1217T>G (n.*1217T>G) n.4508T>G c.3706T>G (p.Tyr1236Asp) c.3139T>G (p.Tyr1047Asp) | |
| 1 | g.11157234A>G | CA338371931 | MTOR | c.4387T>C (p.Tyr1463His) n.307T>C c.4174T>C (p.Tyr1392His) c.*1217T>C (n.*1217T>C) n.4508T>C c.3706T>C (p.Tyr1236His) c.3139T>C (p.Tyr1047His) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.11157234A>T | CA338371933 | MTOR | c.4387T>A (p.Tyr1463Asn) n.307T>A c.4174T>A (p.Tyr1392Asn) c.*1217T>A (n.*1217T>A) n.4508T>A c.3706T>A (p.Tyr1236Asn) c.3139T>A (p.Tyr1047Asn) | |
| 1 | g.11157235G>A | CA415913660 | MTOR | c.4386C>T (p.Ala1462=) n.306C>T c.4173C>T (p.Ala1391=) c.*1216C>T (n.*1216C>T) n.4507C>T c.3705C>T (p.Ala1235=) c.3138C>T (p.Ala1046=) | |
| 1 | g.11157235G>C | CA415913661 | MTOR | c.4386C>G (p.Ala1462=) n.306C>G c.4173C>G (p.Ala1391=) c.*1216C>G (n.*1216C>G) n.4507C>G c.3705C>G (p.Ala1235=) c.3138C>G (p.Ala1046=) | |
| 1 | g.11157235G>T | CA415913662 | MTOR | c.4386C>A (p.Ala1462=) n.306C>A c.4173C>A (p.Ala1391=) c.*1216C>A (n.*1216C>A) n.4507C>A c.3705C>A (p.Ala1235=) c.3138C>A (p.Ala1046=) | |
| 1 | g.11157236G>A | CA338371934 | MTOR | c.4385C>T (p.Ala1462Val) n.305C>T c.4172C>T (p.Ala1391Val) c.*1215C>T (n.*1215C>T) n.4506C>T c.3704C>T (p.Ala1235Val) c.3137C>T (p.Ala1046Val) | |
| 1 | g.11157236G>C | CA338371936 | MTOR | c.4385C>G (p.Ala1462Gly) n.305C>G c.4172C>G (p.Ala1391Gly) c.*1215C>G (n.*1215C>G) n.4506C>G c.3704C>G (p.Ala1235Gly) c.3137C>G (p.Ala1046Gly) | |
| 1 | g.11157236G>T | CA338371939 | MTOR | c.4385C>A (p.Ala1462Asp) n.305C>A c.4172C>A (p.Ala1391Asp) c.*1215C>A (n.*1215C>A) n.4506C>A c.3704C>A (p.Ala1235Asp) c.3137C>A (p.Ala1046Asp) | |
| 1 | g.11157237C>A | CA338371940 | MTOR | c.4384G>T (p.Ala1462Ser) n.304G>T c.4171G>T (p.Ala1391Ser) c.*1214G>T (n.*1214G>T) n.4505G>T c.3703G>T (p.Ala1235Ser) c.3136G>T (p.Ala1046Ser) | dbSNP |
| 1 | g.11157237C>G | CA338371941 | MTOR | c.4384G>C (p.Ala1462Pro) n.304G>C c.4171G>C (p.Ala1391Pro) c.*1214G>C (n.*1214G>C) n.4505G>C c.3703G>C (p.Ala1235Pro) c.3136G>C (p.Ala1046Pro) | dbSNP |
| 1 | g.11157237C>T | CA338371942 | MTOR | c.4384G>A (p.Ala1462Thr) n.304G>A c.4171G>A (p.Ala1391Thr) c.*1214G>A (n.*1214G>A) n.4505G>A c.3703G>A (p.Ala1235Thr) c.3136G>A (p.Ala1046Thr) | dbSNP |
| 1 | g.11157238del | CA2695399129 | MTOR | c.4384del (p.Ala1462ProfsTer15) n.304del c.4171del (p.Ala1391ProfsTer15) c.*1214del (n.*1214del) n.4505del c.3703del (p.Ala1235ProfsTer15) c.3136del (p.Ala1046ProfsTer15) | dbSNP |
| 1 | g.11157238C>A | CA415913663 | MTOR | c.4383G>T (p.Val1461=) n.303G>T c.4170G>T (p.Val1390=) c.*1213G>T (n.*1213G>T) n.4504G>T c.3702G>T (p.Val1234=) c.3135G>T (p.Val1045=) | |
| 1 | g.11157238C= | CA1153537903 | MTOR | c.4383G= (p.Val1461=) n.303G= c.4170G= (p.Val1390=) c.*1213G= (n.*1213G=) n.4504G= c.3702G= (p.Val1234=) c.3135G= (p.Val1045=) | |
| 1 | g.11157238C>G | CA415913664 | MTOR | c.4383G>C (p.Val1461=) n.303G>C c.4170G>C (p.Val1390=) c.*1213G>C (n.*1213G>C) n.4504G>C c.3702G>C (p.Val1234=) c.3135G>C (p.Val1045=) | dbSNP |
| 1 | g.11157238C>T | CA415913665 | MTOR | c.4383G>A (p.Val1461=) n.303G>A c.4170G>A (p.Val1390=) c.*1213G>A (n.*1213G>A) n.4504G>A c.3702G>A (p.Val1234=) c.3135G>A (p.Val1045=) | dbSNP |
| 1 | g.11157239A= | CA1153537908 | MTOR | c.4382T= (p.Val1461=) n.302T= c.4169T= (p.Val1390=) c.*1212T= (n.*1212T=) n.4503T= c.3701T= (p.Val1234=) c.3134T= (p.Val1045=) | |
| 1 | g.11157239A>C | CA338371946 | MTOR | c.4382T>G (p.Val1461Gly) n.302T>G c.4169T>G (p.Val1390Gly) c.*1212T>G (n.*1212T>G) n.4503T>G c.3701T>G (p.Val1234Gly) c.3134T>G (p.Val1045Gly) | ClinVar dbSNP |
| 1 | g.11157239A>G | CA589652 | MTOR | c.4382T>C (p.Val1461Ala) n.302T>C c.4169T>C (p.Val1390Ala) c.*1212T>C (n.*1212T>C) n.4503T>C c.3701T>C (p.Val1234Ala) c.3134T>C (p.Val1045Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11157239A>T | CA338371944 | MTOR | c.4382T>A (p.Val1461Glu) n.302T>A c.4169T>A (p.Val1390Glu) c.*1212T>A (n.*1212T>A) n.4503T>A c.3701T>A (p.Val1234Glu) c.3134T>A (p.Val1045Glu) | dbSNP |
| 1 | g.11157240C>A | CA338371949 | MTOR | c.4381G>T (p.Val1461Leu) n.301G>T c.4168G>T (p.Val1390Leu) c.*1211G>T (n.*1211G>T) n.4502G>T c.3700G>T (p.Val1234Leu) c.3133G>T (p.Val1045Leu) | dbSNP COSMIC |
| 1 | g.11157240C= | CA1153537916 | MTOR | c.4381G= (p.Val1461=) n.301G= c.4168G= (p.Val1390=) c.*1211G= (n.*1211G=) n.4502G= c.3700G= (p.Val1234=) c.3133G= (p.Val1045=) | |
| 1 | g.11157240C>G | CA17913613 | MTOR | c.4381G>C (p.Val1461Leu) n.301G>C c.4168G>C (p.Val1390Leu) c.*1211G>C (n.*1211G>C) n.4502G>C c.3700G>C (p.Val1234Leu) c.3133G>C (p.Val1045Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11157240C>T | CA338371953 | MTOR | c.4381G>A (p.Val1461Met) n.301G>A c.4168G>A (p.Val1390Met) c.*1211G>A (n.*1211G>A) n.4502G>A c.3700G>A (p.Val1234Met) c.3133G>A (p.Val1045Met) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.11157241A= | CA1153537920 | MTOR | c.4380T= (p.Leu1460=) n.300T= c.4167T= (p.Leu1389=) c.*1210T= (n.*1210T=) n.4501T= c.3699T= (p.Leu1233=) c.3132T= (p.Leu1044=) | |
| 1 | g.11157241A>C | CA415913666 | MTOR | c.4380T>G (p.Leu1460=) n.300T>G c.4167T>G (p.Leu1389=) c.*1210T>G (n.*1210T>G) n.4501T>G c.3699T>G (p.Leu1233=) c.3132T>G (p.Leu1044=) | |
| 1 | g.11157241A>G | CA415913667 | MTOR | c.4380T>C (p.Leu1460=) n.300T>C c.4167T>C (p.Leu1389=) c.*1210T>C (n.*1210T>C) n.4501T>C c.3699T>C (p.Leu1233=) c.3132T>C (p.Leu1044=) | dbSNP gnomAD v4 |
| 1 | g.11157241A>T | CA415913668 | MTOR | c.4380T>A (p.Leu1460=) n.300T>A c.4167T>A (p.Leu1389=) c.*1210T>A (n.*1210T>A) n.4501T>A c.3699T>A (p.Leu1233=) c.3132T>A (p.Leu1044=) | dbSNP |
| 1 | g.11157242del | CA2580060502 | MTOR | c.4380del (p.Val1461TrpfsTer16) n.300del c.4167del (p.Val1390TrpfsTer16) c.*1210del (n.*1210del) n.4501del c.3699del (p.Val1234TrpfsTer16) c.3132del (p.Val1045TrpfsTer16) | ClinVar |
| 1 | g.11157242A= | CA1153537924 | MTOR | c.4379T= (p.Leu1460=) n.299T= c.4166T= (p.Leu1389=) c.*1209T= (n.*1209T=) n.4500T= c.3698T= (p.Leu1233=) c.3131T= (p.Leu1044=) | |
| 1 | g.11157242A>C | CA338371956 | MTOR | c.4379T>G (p.Leu1460Arg) n.299T>G c.4166T>G (p.Leu1389Arg) c.*1209T>G (n.*1209T>G) n.4500T>G c.3698T>G (p.Leu1233Arg) c.3131T>G (p.Leu1044Arg) | |
| 1 | g.11157242A>G | CA16602588 | MTOR | c.4379T>C (p.Leu1460Pro) n.299T>C c.4166T>C (p.Leu1389Pro) c.*1209T>C (n.*1209T>C) n.4500T>C c.3698T>C (p.Leu1233Pro) c.3131T>C (p.Leu1044Pro) | ClinVar dbSNP COSMIC |
| 1 | g.11157242A>T | CA338371960 | MTOR | c.4379T>A (p.Leu1460His) n.299T>A c.4166T>A (p.Leu1389His) c.*1209T>A (n.*1209T>A) n.4500T>A c.3698T>A (p.Leu1233His) c.3131T>A (p.Leu1044His) | |
| 1 | g.11157243G>A | CA338371961 | MTOR | c.4378C>T (p.Leu1460Phe) n.298C>T c.4165C>T (p.Leu1389Phe) c.*1208C>T (n.*1208C>T) n.4499C>T c.3697C>T (p.Leu1233Phe) c.3130C>T (p.Leu1044Phe) | dbSNP |
| 1 | g.11157243G>C | CA338371963 | MTOR | c.4378C>G (p.Leu1460Val) n.298C>G c.4165C>G (p.Leu1389Val) c.*1208C>G (n.*1208C>G) n.4499C>G c.3697C>G (p.Leu1233Val) c.3130C>G (p.Leu1044Val) | dbSNP |
| 1 | g.11157243G>T | CA338371966 | MTOR | c.4378C>A (p.Leu1460Ile) n.298C>A c.4165C>A (p.Leu1389Ile) c.*1208C>A (n.*1208C>A) n.4499C>A c.3697C>A (p.Leu1233Ile) c.3130C>A (p.Leu1044Ile) | dbSNP |
| 1 | g.11157244G>A | CA589653 | MTOR | c.4377C>T (p.Ala1459=) n.297C>T c.4164C>T (p.Ala1388=) c.*1207C>T (n.*1207C>T) n.4498C>T c.3696C>T (p.Ala1232=) c.3129C>T (p.Ala1043=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.11157244G>C | CA415913670 | MTOR | c.4377C>G (p.Ala1459=) n.297C>G c.4164C>G (p.Ala1388=) c.*1207C>G (n.*1207C>G) n.4498C>G c.3696C>G (p.Ala1232=) c.3129C>G (p.Ala1043=) | dbSNP |
| 1 | g.11157244G= | CA1153537932 | MTOR | c.4377C= (p.Ala1459=) n.297C= c.4164C= (p.Ala1388=) c.*1207C= (n.*1207C=) n.4498C= c.3696C= (p.Ala1232=) c.3129C= (p.Ala1043=) | |
| 1 | g.11157244G>T | CA415913669 | MTOR | c.4377C>A (p.Ala1459=) n.297C>A c.4164C>A (p.Ala1388=) c.*1207C>A (n.*1207C>A) n.4498C>A c.3696C>A (p.Ala1232=) c.3129C>A (p.Ala1043=) | dbSNP |
| 1 | g.11157245G>A | CA338371970 | MTOR | c.4376C>T (p.Ala1459Val) n.296C>T c.4163C>T (p.Ala1388Val) c.*1206C>T (n.*1206C>T) n.4497C>T c.3695C>T (p.Ala1232Val) c.3128C>T (p.Ala1043Val) | ClinVar dbSNP COSMIC |
| 1 | g.11157245G>C | CA338371973 | MTOR | c.4376C>G (p.Ala1459Gly) n.296C>G c.4163C>G (p.Ala1388Gly) c.*1206C>G (n.*1206C>G) n.4497C>G c.3695C>G (p.Ala1232Gly) c.3128C>G (p.Ala1043Gly) | dbSNP |
| 1 | g.11157245G= | CA1153537940 | MTOR | c.4376C= (p.Ala1459=) n.296C= c.4163C= (p.Ala1388=) c.*1206C= (n.*1206C=) n.4497C= c.3695C= (p.Ala1232=) c.3128C= (p.Ala1043=) | |
| 1 | g.11157245G>T | CA338371975 | MTOR | c.4376C>A (p.Ala1459Asp) n.296C>A c.4163C>A (p.Ala1388Asp) c.*1206C>A (n.*1206C>A) n.4497C>A c.3695C>A (p.Ala1232Asp) c.3128C>A (p.Ala1043Asp) | ClinVar dbSNP COSMIC |
| 1 | g.11157246C>A | CA338371979 | MTOR | c.4375G>T (p.Ala1459Ser) n.295G>T c.4162G>T (p.Ala1388Ser) c.*1205G>T (n.*1205G>T) n.4496G>T c.3694G>T (p.Ala1232Ser) c.3127G>T (p.Ala1043Ser) | ClinVar dbSNP COSMIC |
| 1 | g.11157246C= | CA1153537943 | MTOR | c.4375G= (p.Ala1459=) n.295G= c.4162G= (p.Ala1388=) c.*1205G= (n.*1205G=) n.4496G= c.3694G= (p.Ala1232=) c.3127G= (p.Ala1043=) | |
| 1 | g.11157246C>G | CA338371984 | MTOR | c.4375G>C (p.Ala1459Pro) n.295G>C c.4162G>C (p.Ala1388Pro) c.*1205G>C (n.*1205G>C) n.4496G>C c.3694G>C (p.Ala1232Pro) c.3127G>C (p.Ala1043Pro) | dbSNP COSMIC |
| 1 | g.11157246C>T | CA338371977 | MTOR | c.4375G>A (p.Ala1459Thr) n.295G>A c.4162G>A (p.Ala1388Thr) c.*1205G>A (n.*1205G>A) n.4496G>A c.3694G>A (p.Ala1232Thr) c.3127G>A (p.Ala1043Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.11157247A>C | CA338371987 | MTOR | c.4374T>G (p.Asp1458Glu) n.294T>G c.4161T>G (p.Asp1387Glu) c.*1204T>G (n.*1204T>G) n.4495T>G c.3693T>G (p.Asp1231Glu) c.3126T>G (p.Asp1042Glu) | dbSNP |
| 1 | g.11157247A>G | CA415913672 | MTOR | c.4374T>C (p.Asp1458=) n.294T>C c.4161T>C (p.Asp1387=) c.*1204T>C (n.*1204T>C) n.4495T>C c.3693T>C (p.Asp1231=) c.3126T>C (p.Asp1042=) | |
| 1 | g.11157247A>T | CA338371989 | MTOR | c.4374T>A (p.Asp1458Glu) n.294T>A c.4161T>A (p.Asp1387Glu) c.*1204T>A (n.*1204T>A) n.4495T>A c.3693T>A (p.Asp1231Glu) c.3126T>A (p.Asp1042Glu) | dbSNP |
| 1 | g.11157248T>A | CA338371992 | MTOR | c.4373A>T (p.Asp1458Val) n.293A>T c.4160A>T (p.Asp1387Val) c.*1203A>T (n.*1203A>T) n.4494A>T c.3692A>T (p.Asp1231Val) c.3125A>T (p.Asp1042Val) | dbSNP gnomAD v4 |
| 1 | g.11157248T>C | CA338371995 | MTOR | c.4373A>G (p.Asp1458Gly) n.293A>G c.4160A>G (p.Asp1387Gly) c.*1203A>G (n.*1203A>G) n.4494A>G c.3692A>G (p.Asp1231Gly) c.3125A>G (p.Asp1042Gly) | dbSNP |
| 1 | g.11157248T>G | CA338371997 | MTOR | c.4373A>C (p.Asp1458Ala) n.293A>C c.4160A>C (p.Asp1387Ala) c.*1203A>C (n.*1203A>C) n.4494A>C c.3692A>C (p.Asp1231Ala) c.3125A>C (p.Asp1042Ala) | dbSNP |
| 1 | g.11157249C>A | CA338372000 | MTOR | c.4372G>T (p.Asp1458Tyr) n.292G>T c.4159G>T (p.Asp1387Tyr) c.*1202G>T (n.*1202G>T) n.4493G>T c.3691G>T (p.Asp1231Tyr) c.3124G>T (p.Asp1042Tyr) | dbSNP |
| 1 | g.11157249C>G | CA338372002 | MTOR | c.4372G>C (p.Asp1458His) n.292G>C c.4159G>C (p.Asp1387His) c.*1202G>C (n.*1202G>C) n.4493G>C c.3691G>C (p.Asp1231His) c.3124G>C (p.Asp1042His) | dbSNP |
| 1 | g.11157249C>T | CA338372004 | MTOR | c.4372G>A (p.Asp1458Asn) n.292G>A c.4159G>A (p.Asp1387Asn) c.*1202G>A (n.*1202G>A) n.4493G>A c.3691G>A (p.Asp1231Asn) c.3124G>A (p.Asp1042Asn) | dbSNP |
| 1 | g.11157250C>A | CA338372006 | MTOR | c.4371G>T (p.Glu1457Asp) n.291G>T c.4158G>T (p.Glu1386Asp) c.*1201G>T (n.*1201G>T) n.4492G>T c.3690G>T (p.Glu1230Asp) c.3123G>T (p.Glu1041Asp) | dbSNP |
| 1 | g.11157250C>G | CA338372009 | MTOR | c.4371G>C (p.Glu1457Asp) n.291G>C c.4158G>C (p.Glu1386Asp) c.*1201G>C (n.*1201G>C) n.4492G>C c.3690G>C (p.Glu1230Asp) c.3123G>C (p.Glu1041Asp) | dbSNP |
| 1 | g.11157250C>T | CA415913674 | MTOR | c.4371G>A (p.Glu1457=) n.291G>A c.4158G>A (p.Glu1386=) c.*1201G>A (n.*1201G>A) n.4492G>A c.3690G>A (p.Glu1230=) c.3123G>A (p.Glu1041=) | dbSNP |
| 1 | g.11157251T>A | CA338372012 | MTOR | c.4370A>T (p.Glu1457Val) n.290A>T c.4157A>T (p.Glu1386Val) c.*1200A>T (n.*1200A>T) n.4491A>T c.3689A>T (p.Glu1230Val) c.3122A>T (p.Glu1041Val) | dbSNP |
| 1 | g.11157251T>C | CA338372013 | MTOR | c.4370A>G (p.Glu1457Gly) n.290A>G c.4157A>G (p.Glu1386Gly) c.*1200A>G (n.*1200A>G) n.4491A>G c.3689A>G (p.Glu1230Gly) c.3122A>G (p.Glu1041Gly) | |
| 1 | g.11157251T>G | CA338372016 | MTOR | c.4370A>C (p.Glu1457Ala) n.290A>C c.4157A>C (p.Glu1386Ala) c.*1200A>C (n.*1200A>C) n.4491A>C c.3689A>C (p.Glu1230Ala) c.3122A>C (p.Glu1041Ala) | |
| 1 | g.11157252C>A | CA338372025 | MTOR | c.4369G>T (p.Glu1457Ter) n.289G>T c.4156G>T (p.Glu1386Ter) c.*1199G>T (n.*1199G>T) n.4490G>T c.3688G>T (p.Glu1230Ter) c.3121G>T (p.Glu1041Ter) | |
| 1 | g.11157252C>G | CA338372022 | MTOR | c.4369G>C (p.Glu1457Gln) n.289G>C c.4156G>C (p.Glu1386Gln) c.*1199G>C (n.*1199G>C) n.4490G>C c.3688G>C (p.Glu1230Gln) c.3121G>C (p.Glu1041Gln) | dbSNP |
| 1 | g.11157252C>T | CA338372019 | MTOR | c.4369G>A (p.Glu1457Lys) n.289G>A c.4156G>A (p.Glu1386Lys) c.*1199G>A (n.*1199G>A) n.4490G>A c.3688G>A (p.Glu1230Lys) c.3121G>A (p.Glu1041Lys) | dbSNP |
| 1 | g.11157253_11157254dup | CA2643245795 | MTOR | c.4368_4369dup (p.Glu1457GlyfsTer21) n.288_289dup c.4155_4156dup (p.Glu1386GlyfsTer21) c.*1198_*1199dup (n.*1198_*1199dup) n.4489_4490dup c.3687_3688dup (p.Glu1230GlyfsTer21) c.3120_3121dup (p.Glu1041GlyfsTer21) | gnomAD v4 |
| 1 | g.11157253C>A | CA338372028 | MTOR | c.4368G>T (p.Trp1456Cys) n.288G>T c.4155G>T (p.Trp1385Cys) c.*1198G>T (n.*1198G>T) n.4489G>T c.3687G>T (p.Trp1229Cys) c.3120G>T (p.Trp1040Cys) | dbSNP COSMIC |
| 1 | g.11157253C>G | CA338372031 | MTOR | c.4368G>C (p.Trp1456Cys) n.288G>C c.4155G>C (p.Trp1385Cys) c.*1198G>C (n.*1198G>C) n.4489G>C c.3687G>C (p.Trp1229Cys) c.3120G>C (p.Trp1040Cys) | dbSNP |
| 1 | g.11157253C>T | CA338372034 | MTOR | c.4368G>A (p.Trp1456Ter) n.288G>A c.4155G>A (p.Trp1385Ter) c.*1198G>A (n.*1198G>A) n.4489G>A c.3687G>A (p.Trp1229Ter) c.3120G>A (p.Trp1040Ter) | dbSNP |
| 1 | g.11157254C>A | CA338372037 | MTOR | c.4367G>T (p.Trp1456Leu) n.287G>T c.4154G>T (p.Trp1385Leu) c.*1197G>T (n.*1197G>T) n.4488G>T c.3686G>T (p.Trp1229Leu) c.3119G>T (p.Trp1040Leu) | dbSNP |
| 1 | g.11157254C>G | CA338372039 | MTOR | c.4367G>C (p.Trp1456Ser) n.287G>C c.4154G>C (p.Trp1385Ser) c.*1197G>C (n.*1197G>C) n.4488G>C c.3686G>C (p.Trp1229Ser) c.3119G>C (p.Trp1040Ser) | dbSNP |
| 1 | g.11157254C>T | CA338372042 | MTOR | c.4367G>A (p.Trp1456Ter) n.287G>A c.4154G>A (p.Trp1385Ter) c.*1197G>A (n.*1197G>A) n.4488G>A c.3686G>A (p.Trp1229Ter) c.3119G>A (p.Trp1040Ter) | dbSNP |
| 1 | g.11157255A= | CA1153537952 | MTOR | c.4366T= (p.Trp1456=) n.286T= c.4153T= (p.Trp1385=) c.*1196T= (n.*1196T=) n.4487T= c.3685T= (p.Trp1229=) c.3118T= (p.Trp1040=) | |
| 1 | g.11157255A>C | CA338372045 | MTOR | c.4366T>G (p.Trp1456Gly) n.286T>G c.4153T>G (p.Trp1385Gly) c.*1196T>G (n.*1196T>G) n.4487T>G c.3685T>G (p.Trp1229Gly) c.3118T>G (p.Trp1040Gly) | ClinVar dbSNP |
| 1 | g.11157255A>G | CA338372048 | MTOR | c.4366T>C (p.Trp1456Arg) n.286T>C c.4153T>C (p.Trp1385Arg) c.*1196T>C (n.*1196T>C) n.4487T>C c.3685T>C (p.Trp1229Arg) c.3118T>C (p.Trp1040Arg) | |
| 1 | g.11157255A>T | CA338372049 | MTOR | c.4366T>A (p.Trp1456Arg) n.286T>A c.4153T>A (p.Trp1385Arg) c.*1196T>A (n.*1196T>A) n.4487T>A c.3685T>A (p.Trp1229Arg) c.3118T>A (p.Trp1040Arg) | dbSNP |
| 1 | g.11157256C>A | CA338372052 | MTOR | c.4365G>T (p.Glu1455Asp) n.285G>T c.4152G>T (p.Glu1384Asp) c.*1195G>T (n.*1195G>T) n.4486G>T c.3684G>T (p.Glu1228Asp) c.3117G>T (p.Glu1039Asp) | |
| 1 | g.11157256C= | CA1153537959 | MTOR | c.4365G= (p.Glu1455=) n.285G= c.4152G= (p.Glu1384=) c.*1195G= (n.*1195G=) n.4486G= c.3684G= (p.Glu1228=) c.3117G= (p.Glu1039=) | |
| 1 | g.11157256C>G | CA338372054 | MTOR | c.4365G>C (p.Glu1455Asp) n.285G>C c.4152G>C (p.Glu1384Asp) c.*1195G>C (n.*1195G>C) n.4486G>C c.3684G>C (p.Glu1228Asp) c.3117G>C (p.Glu1039Asp) | dbSNP |
| 1 | g.11157256C>T | CA415913692 | MTOR | c.4365G>A (p.Glu1455=) n.285G>A c.4152G>A (p.Glu1384=) c.*1195G>A (n.*1195G>A) n.4486G>A c.3684G>A (p.Glu1228=) c.3117G>A (p.Glu1039=) | dbSNP gnomAD v4 COSMIC |
| 1 | g.11157257T>A | CA338372056 | MTOR | c.4364A>T (p.Glu1455Val) n.284A>T c.4151A>T (p.Glu1384Val) c.*1194A>T (n.*1194A>T) n.4485A>T c.3683A>T (p.Glu1228Val) c.3116A>T (p.Glu1039Val) | dbSNP |
| 1 | g.11157257T>C | CA338372058 | MTOR | c.4364A>G (p.Glu1455Gly) n.284A>G c.4151A>G (p.Glu1384Gly) c.*1194A>G (n.*1194A>G) n.4485A>G c.3683A>G (p.Glu1228Gly) c.3116A>G (p.Glu1039Gly) | |
| 1 | g.11157257T>G | CA338372061 | MTOR | c.4364A>C (p.Glu1455Ala) n.284A>C c.4151A>C (p.Glu1384Ala) c.*1194A>C (n.*1194A>C) n.4485A>C c.3683A>C (p.Glu1228Ala) c.3116A>C (p.Glu1039Ala) | |
| 1 | g.11157258C>A | CA338372066 | MTOR | c.4363G>T (p.Glu1455Ter) n.283G>T c.4150G>T (p.Glu1384Ter) c.*1193G>T (n.*1193G>T) n.4484G>T c.3682G>T (p.Glu1228Ter) c.3115G>T (p.Glu1039Ter) | dbSNP |
| 1 | g.11157258C= | CA1153537964 | MTOR | c.4363G= (p.Glu1455=) n.283G= c.4150G= (p.Glu1384=) c.*1193G= (n.*1193G=) n.4484G= c.3682G= (p.Glu1228=) c.3115G= (p.Glu1039=) | |
| 1 | g.11157258C>G | CA338372069 | MTOR | c.4363G>C (p.Glu1455Gln) n.283G>C c.4150G>C (p.Glu1384Gln) c.*1193G>C (n.*1193G>C) n.4484G>C c.3682G>C (p.Glu1228Gln) c.3115G>C (p.Glu1039Gln) | dbSNP |
| 1 | g.11157258C>T | CA338372064 | MTOR | c.4363G>A (p.Glu1455Lys) n.283G>A c.4150G>A (p.Glu1384Lys) c.*1193G>A (n.*1193G>A) n.4484G>A c.3682G>A (p.Glu1228Lys) c.3115G>A (p.Glu1039Lys) | dbSNP gnomAD v4 |
| 1 | g.11157259G>A | CA589654 | MTOR | c.4362C>T (p.His1454=) n.282C>T c.4149C>T (p.His1383=) c.*1192C>T (n.*1192C>T) n.4483C>T c.3681C>T (p.His1227=) c.3114C>T (p.His1038=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.11157259G>C | CA338372073 | MTOR | c.4362C>G (p.His1454Gln) n.282C>G c.4149C>G (p.His1383Gln) c.*1192C>G (n.*1192C>G) n.4483C>G c.3681C>G (p.His1227Gln) c.3114C>G (p.His1038Gln) | dbSNP |
| 1 | g.11157259G= | CA1153537969 | MTOR | c.4362C= (p.His1454=) n.282C= c.4149C= (p.His1383=) c.*1192C= (n.*1192C=) n.4483C= c.3681C= (p.His1227=) c.3114C= (p.His1038=) | |
| 1 | g.11157259G>T | CA338372076 | MTOR | c.4362C>A (p.His1454Gln) n.282C>A c.4149C>A (p.His1383Gln) c.*1192C>A (n.*1192C>A) n.4483C>A c.3681C>A (p.His1227Gln) c.3114C>A (p.His1038Gln) | dbSNP |
| 1 | g.11157260T>A | CA338372079 | MTOR | c.4361A>T (p.His1454Leu) n.281A>T c.4148A>T (p.His1383Leu) c.*1191A>T (n.*1191A>T) n.4482A>T c.3680A>T (p.His1227Leu) c.3113A>T (p.His1038Leu) | dbSNP |
| 1 | g.11157260T>C | CA338372083 | MTOR | c.4361A>G (p.His1454Arg) n.281A>G c.4148A>G (p.His1383Arg) c.*1191A>G (n.*1191A>G) n.4482A>G c.3680A>G (p.His1227Arg) c.3113A>G (p.His1038Arg) | dbSNP |
| 1 | g.11157260T>G | CA338372085 | MTOR | c.4361A>C (p.His1454Pro) n.281A>C c.4148A>C (p.His1383Pro) c.*1191A>C (n.*1191A>C) n.4482A>C c.3680A>C (p.His1227Pro) c.3113A>C (p.His1038Pro) | dbSNP |
| 1 | g.11157261G>A | CA338372089 | MTOR | c.4360C>T (p.His1454Tyr) n.280C>T c.4147C>T (p.His1383Tyr) c.*1190C>T (n.*1190C>T) n.4481C>T c.3679C>T (p.His1227Tyr) c.3112C>T (p.His1038Tyr) | ClinVar dbSNP |
| 1 | g.11157261G>C | CA338372091 | MTOR | c.4360C>G (p.His1454Asp) n.280C>G c.4147C>G (p.His1383Asp) c.*1190C>G (n.*1190C>G) n.4481C>G c.3679C>G (p.His1227Asp) c.3112C>G (p.His1038Asp) | dbSNP |
| 1 | g.11157261G>T | CA338372094 | MTOR | c.4360C>A (p.His1454Asn) n.280C>A c.4147C>A (p.His1383Asn) c.*1190C>A (n.*1190C>A) n.4481C>A c.3679C>A (p.His1227Asn) c.3112C>A (p.His1038Asn) | |
| 1 | g.11157262C>A | CA415913712 | MTOR | c.4359G>T (p.Leu1453=) n.279G>T c.4146G>T (p.Leu1382=) c.*1189G>T (n.*1189G>T) n.4480G>T c.3678G>T (p.Leu1226=) c.3111G>T (p.Leu1037=) | dbSNP |
| 1 | g.11157262C= | CA1153537978 | MTOR | c.4359G= (p.Leu1453=) n.279G= c.4146G= (p.Leu1382=) c.*1189G= (n.*1189G=) n.4480G= c.3678G= (p.Leu1226=) c.3111G= (p.Leu1037=) | |
| 1 | g.11157262C>G | CA415913710 | MTOR | c.4359G>C (p.Leu1453=) n.279G>C c.4146G>C (p.Leu1382=) c.*1189G>C (n.*1189G>C) n.4480G>C c.3678G>C (p.Leu1226=) c.3111G>C (p.Leu1037=) | dbSNP |
| 1 | g.11157262C>T | CA17913617 | MTOR | c.4359G>A (p.Leu1453=) n.279G>A c.4146G>A (p.Leu1382=) c.*1189G>A (n.*1189G>A) n.4480G>A c.3678G>A (p.Leu1226=) c.3111G>A (p.Leu1037=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.11157263A= | CA1153537985 | MTOR | c.4358T= (p.Leu1453=) n.278T= c.4145T= (p.Leu1382=) c.*1188T= (n.*1188T=) n.4479T= c.3677T= (p.Leu1226=) c.3110T= (p.Leu1037=) | |
| 1 | g.11157263A>C | CA338372097 | MTOR | c.4358T>G (p.Leu1453Arg) n.278T>G c.4145T>G (p.Leu1382Arg) c.*1188T>G (n.*1188T>G) n.4479T>G c.3677T>G (p.Leu1226Arg) c.3110T>G (p.Leu1037Arg) | dbSNP |
| 1 | g.11157263A>G | CA338372102 | MTOR | c.4358T>C (p.Leu1453Pro) n.278T>C c.4145T>C (p.Leu1382Pro) c.*1188T>C (n.*1188T>C) n.4479T>C c.3677T>C (p.Leu1226Pro) c.3110T>C (p.Leu1037Pro) | ClinVar dbSNP COSMIC |
| 1 | g.11157263A>T | CA338372103 | MTOR | c.4358T>A (p.Leu1453Gln) n.278T>A c.4145T>A (p.Leu1382Gln) c.*1188T>A (n.*1188T>A) n.4479T>A c.3677T>A (p.Leu1226Gln) c.3110T>A (p.Leu1037Gln) | dbSNP |
| 1 | g.11157264G>A | CA415913719 | MTOR | c.4357C>T (p.Leu1453=) n.277C>T c.4144C>T (p.Leu1382=) c.*1187C>T (n.*1187C>T) n.4478C>T c.3676C>T (p.Leu1226=) c.3109C>T (p.Leu1037=) | |
| 1 | g.11157264G>C | CA338372106 | MTOR | c.4357C>G (p.Leu1453Val) n.277C>G c.4144C>G (p.Leu1382Val) c.*1187C>G (n.*1187C>G) n.4478C>G c.3676C>G (p.Leu1226Val) c.3109C>G (p.Leu1037Val) | |
| 1 | g.11157264G>T | CA338372108 | MTOR | c.4357C>A (p.Leu1453Met) n.277C>A c.4144C>A (p.Leu1382Met) c.*1187C>A (n.*1187C>A) n.4478C>A c.3676C>A (p.Leu1226Met) c.3109C>A (p.Leu1037Met) | |
| 1 | g.11157265T>A | CA338372112 | MTOR | c.4356A>T (p.Lys1452Asn) n.276A>T c.4143A>T (p.Lys1381Asn) c.*1186A>T (n.*1186A>T) n.4477A>T c.3675A>T (p.Lys1225Asn) c.3108A>T (p.Lys1036Asn) | ClinVar dbSNP COSMIC |
| 1 | g.11157265T>C | CA415913724 | MTOR | c.4356A>G (p.Lys1452=) n.276A>G c.4143A>G (p.Lys1381=) c.*1186A>G (n.*1186A>G) n.4477A>G c.3675A>G (p.Lys1225=) c.3108A>G (p.Lys1036=) | |
| 1 | g.11157265T>G | CA338372120 | MTOR | c.4356A>C (p.Lys1452Asn) n.276A>C c.4143A>C (p.Lys1381Asn) c.*1186A>C (n.*1186A>C) n.4477A>C c.3675A>C (p.Lys1225Asn) c.3108A>C (p.Lys1036Asn) | |
| 1 | g.11157265T= | CA1153537992 | MTOR | c.4356A= (p.Lys1452=) n.276A= c.4143A= (p.Lys1381=) c.*1186A= (n.*1186A=) n.4477A= c.3675A= (p.Lys1225=) c.3108A= (p.Lys1036=) | |
| 1 | g.11157266T>A | CA338372123 | MTOR | c.4355A>T (p.Lys1452Ile) n.275A>T c.4142A>T (p.Lys1381Ile) c.*1185A>T (n.*1185A>T) n.4476A>T c.3674A>T (p.Lys1225Ile) c.3107A>T (p.Lys1036Ile) | dbSNP |
| 1 | g.11157266T>C | CA338372126 | MTOR | c.4355A>G (p.Lys1452Arg) n.275A>G c.4142A>G (p.Lys1381Arg) c.*1185A>G (n.*1185A>G) n.4476A>G c.3674A>G (p.Lys1225Arg) c.3107A>G (p.Lys1036Arg) | dbSNP |
| 1 | g.11157266T>G | CA338372129 | MTOR | c.4355A>C (p.Lys1452Thr) n.275A>C c.4142A>C (p.Lys1381Thr) c.*1185A>C (n.*1185A>C) n.4476A>C c.3674A>C (p.Lys1225Thr) c.3107A>C (p.Lys1036Thr) | |
| 1 | g.11157267T>A | CA338372131 | MTOR | c.4354A>T (p.Lys1452Ter) n.274A>T c.4141A>T (p.Lys1381Ter) c.*1184A>T (n.*1184A>T) n.4475A>T c.3673A>T (p.Lys1225Ter) c.3106A>T (p.Lys1036Ter) | |
| 1 | g.11157267T>C | CA338372134 | MTOR | c.4354A>G (p.Lys1452Glu) n.274A>G c.4141A>G (p.Lys1381Glu) c.*1184A>G (n.*1184A>G) n.4475A>G c.3673A>G (p.Lys1225Glu) c.3106A>G (p.Lys1036Glu) | dbSNP |
| 1 | g.11157267T>G | CA338372137 | MTOR | c.4354A>C (p.Lys1452Gln) n.274A>C c.4141A>C (p.Lys1381Gln) c.*1184A>C (n.*1184A>C) n.4475A>C c.3673A>C (p.Lys1225Gln) c.3106A>C (p.Lys1036Gln) | |
| 1 | g.11157268C>A | CA338372139 | MTOR | c.4353G>T (p.Glu1451Asp) n.273G>T c.4140G>T (p.Glu1380Asp) c.*1183G>T (n.*1183G>T) n.4474G>T c.3672G>T (p.Glu1224Asp) c.3105G>T (p.Glu1035Asp) | |
| 1 | g.11157268C>G | CA338372140 | MTOR | c.4353G>C (p.Glu1451Asp) n.273G>C c.4140G>C (p.Glu1380Asp) c.*1183G>C (n.*1183G>C) n.4474G>C c.3672G>C (p.Glu1224Asp) c.3105G>C (p.Glu1035Asp) | dbSNP |
| 1 | g.11157268C>T | CA415913748 | MTOR | c.4353G>A (p.Glu1451=) n.273G>A c.4140G>A (p.Glu1380=) c.*1183G>A (n.*1183G>A) n.4474G>A c.3672G>A (p.Glu1224=) c.3105G>A (p.Glu1035=) | dbSNP |
| 1 | g.11157269T>A | CA338372142 | MTOR | c.4352A>T (p.Glu1451Val) n.272A>T c.4139A>T (p.Glu1380Val) c.*1182A>T (n.*1182A>T) n.4473A>T c.3671A>T (p.Glu1224Val) c.3104A>T (p.Glu1035Val) | dbSNP |
| 1 | g.11157269T>C | CA338372145 | MTOR | c.4352A>G (p.Glu1451Gly) n.272A>G c.4139A>G (p.Glu1380Gly) c.*1182A>G (n.*1182A>G) n.4473A>G c.3671A>G (p.Glu1224Gly) c.3104A>G (p.Glu1035Gly) | dbSNP |
| 1 | g.11157269T>G | CA338372146 | MTOR | c.4352A>C (p.Glu1451Ala) n.272A>C c.4139A>C (p.Glu1380Ala) c.*1182A>C (n.*1182A>C) n.4473A>C c.3671A>C (p.Glu1224Ala) c.3104A>C (p.Glu1035Ala) | |
| 1 | g.11157270C>A | CA338372149 | MTOR | c.4351G>T (p.Glu1451Ter) n.271G>T c.4138G>T (p.Glu1380Ter) c.*1181G>T (n.*1181G>T) n.4472G>T c.3670G>T (p.Glu1224Ter) c.3103G>T (p.Glu1035Ter) | |
| 1 | g.11157270C>G | CA338372155 | MTOR | c.4351G>C (p.Glu1451Gln) n.271G>C c.4138G>C (p.Glu1380Gln) c.*1181G>C (n.*1181G>C) n.4472G>C c.3670G>C (p.Glu1224Gln) c.3103G>C (p.Glu1035Gln) | dbSNP |
| 1 | g.11157270C>T | CA338372152 | MTOR | c.4351G>A (p.Glu1451Lys) n.271G>A c.4138G>A (p.Glu1380Lys) c.*1181G>A (n.*1181G>A) n.4472G>A c.3670G>A (p.Glu1224Lys) c.3103G>A (p.Glu1035Lys) | dbSNP |
| 1 | g.11157271A>C | CA338372157 | MTOR | c.4350T>G (p.Tyr1450Ter) n.270T>G c.4137T>G (p.Tyr1379Ter) c.*1180T>G (n.*1180T>G) n.4471T>G c.3669T>G (p.Tyr1223Ter) c.3102T>G (p.Tyr1034Ter) | dbSNP gnomAD v4 |
| 1 | g.11157271A>G | CA415913764 | MTOR | c.4350T>C (p.Tyr1450=) n.270T>C c.4137T>C (p.Tyr1379=) c.*1180T>C (n.*1180T>C) n.4471T>C c.3669T>C (p.Tyr1223=) c.3102T>C (p.Tyr1034=) | |
| 1 | g.11157271A>T | CA338372159 | MTOR | c.4350T>A (p.Tyr1450Ter) n.270T>A c.4137T>A (p.Tyr1379Ter) c.*1180T>A (n.*1180T>A) n.4471T>A c.3669T>A (p.Tyr1223Ter) c.3102T>A (p.Tyr1034Ter) | dbSNP |
| 1 | g.11157272T>A | CA338372162 | MTOR | c.4349A>T (p.Tyr1450Phe) n.269A>T c.4136A>T (p.Tyr1379Phe) c.*1179A>T (n.*1179A>T) n.4470A>T c.3668A>T (p.Tyr1223Phe) c.3101A>T (p.Tyr1034Phe) | dbSNP |
| 1 | g.11157272T>C | CA338372168 | MTOR | c.4349A>G (p.Tyr1450Cys) n.269A>G c.4136A>G (p.Tyr1379Cys) c.*1179A>G (n.*1179A>G) n.4470A>G c.3668A>G (p.Tyr1223Cys) c.3101A>G (p.Tyr1034Cys) | |
| 1 | g.11157272T>G | CA338372165 | MTOR | c.4349A>C (p.Tyr1450Ser) n.269A>C c.4136A>C (p.Tyr1379Ser) c.*1179A>C (n.*1179A>C) n.4470A>C c.3668A>C (p.Tyr1223Ser) c.3101A>C (p.Tyr1034Ser) | |
| 1 | g.11157273A>C | CA338372170 | MTOR | c.4348T>G (p.Tyr1450Asp) n.268T>G c.4135T>G (p.Tyr1379Asp) c.*1178T>G (n.*1178T>G) n.4469T>G c.3667T>G (p.Tyr1223Asp) c.3100T>G (p.Tyr1034Asp) | COSMIC |
| 1 | g.11157273A>G | CA338372173 | MTOR | c.4348T>C (p.Tyr1450His) n.268T>C c.4135T>C (p.Tyr1379His) c.*1178T>C (n.*1178T>C) n.4469T>C c.3667T>C (p.Tyr1223His) c.3100T>C (p.Tyr1034His) | |
| 1 | g.11157273A>T | CA338372175 | MTOR | c.4348T>A (p.Tyr1450Asn) n.268T>A c.4135T>A (p.Tyr1379Asn) c.*1178T>A (n.*1178T>A) n.4469T>A c.3667T>A (p.Tyr1223Asn) c.3100T>A (p.Tyr1034Asn) |