| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36223403C>A | CA373427209 | CLTA,GNE | c.1474G>T (p.Val492Leu) c.1204G>T (p.Val402Leu) c.1381G>T (p.Val461Leu) c.485+19224C>A (n.485+19224C>A) c.1051G>T (p.Val351Leu) c.1366G>T (p.Val456Leu) c.1321G>T (p.Val441Leu) c.1228G>T (p.Val410Leu) | |
| 9 | g.36223403C= | CA1846334377 | CLTA,GNE | c.1474G= (p.Val492=) c.1204G= (p.Val402=) c.1381G= (p.Val461=) c.485+19224C= (n.485+19224C=) c.1051G= (p.Val351=) c.1366G= (p.Val456=) c.1321G= (p.Val441=) c.1228G= (p.Val410=) | |
| 9 | g.36223403C>G | CA373427210 | CLTA,GNE | c.1474G>C (p.Val492Leu) c.1204G>C (p.Val402Leu) c.1381G>C (p.Val461Leu) c.485+19224C>G (n.485+19224C>G) c.1051G>C (p.Val351Leu) c.1366G>C (p.Val456Leu) c.1321G>C (p.Val441Leu) c.1228G>C (p.Val410Leu) | |
| 9 | g.36223403C>T | CA373427213 | CLTA,GNE | c.1474G>A (p.Val492Ile) c.1204G>A (p.Val402Ile) c.1381G>A (p.Val461Ile) c.485+19224C>T (n.485+19224C>T) c.1051G>A (p.Val351Ile) c.1366G>A (p.Val456Ile) c.1321G>A (p.Val441Ile) c.1228G>A (p.Val410Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.36223404A>C | CA464495354 | CLTA,GNE | c.1473T>G (p.Ala491=) c.1203T>G (p.Ala401=) c.1380T>G (p.Ala460=) c.485+19225A>C (n.485+19225A>C) c.1050T>G (p.Ala350=) c.1365T>G (p.Ala455=) c.1320T>G (p.Ala440=) c.1227T>G (p.Ala409=) | |
| 9 | g.36223404A>G | CA464495355 | CLTA,GNE | c.1473T>C (p.Ala491=) c.1203T>C (p.Ala401=) c.1380T>C (p.Ala460=) c.485+19225A>G (n.485+19225A>G) c.1050T>C (p.Ala350=) c.1365T>C (p.Ala455=) c.1320T>C (p.Ala440=) c.1227T>C (p.Ala409=) | |
| 9 | g.36223404A>T | CA464495356 | CLTA,GNE | c.1473T>A (p.Ala491=) c.1203T>A (p.Ala401=) c.1380T>A (p.Ala460=) c.485+19225A>T (n.485+19225A>T) c.1050T>A (p.Ala350=) c.1365T>A (p.Ala455=) c.1320T>A (p.Ala440=) c.1227T>A (p.Ala409=) | |
| 9 | g.36223405G>A | CA253707 | CLTA,GNE | c.1472C>T (p.Ala491Val) c.1202C>T (p.Ala401Val) c.1379C>T (p.Ala460Val) c.485+19226G>A (n.485+19226G>A) c.1049C>T (p.Ala350Val) c.1364C>T (p.Ala455Val) c.1319C>T (p.Ala440Val) c.1226C>T (p.Ala409Val) | ClinVar dbSNP |
| 9 | g.36223405G>C | CA373427222 | CLTA,GNE | c.1472C>G (p.Ala491Gly) c.1202C>G (p.Ala401Gly) c.1379C>G (p.Ala460Gly) c.485+19226G>C (n.485+19226G>C) c.1049C>G (p.Ala350Gly) c.1364C>G (p.Ala455Gly) c.1319C>G (p.Ala440Gly) c.1226C>G (p.Ala409Gly) | |
| 9 | g.36223405G= | CA1846334388 | CLTA,GNE | c.1472C= (p.Ala491=) c.1202C= (p.Ala401=) c.1379C= (p.Ala460=) c.485+19226G= (n.485+19226G=) c.1049C= (p.Ala350=) c.1364C= (p.Ala455=) c.1319C= (p.Ala440=) c.1226C= (p.Ala409=) | |
| 9 | g.36223405G>T | CA373427217 | CLTA,GNE | c.1472C>A (p.Ala491Asp) c.1202C>A (p.Ala401Asp) c.1379C>A (p.Ala460Asp) c.485+19226G>T (n.485+19226G>T) c.1049C>A (p.Ala350Asp) c.1364C>A (p.Ala455Asp) c.1319C>A (p.Ala440Asp) c.1226C>A (p.Ala409Asp) | |
| 9 | g.36223406C>A | CA373427223 | CLTA,GNE | c.1471G>T (p.Ala491Ser) c.1201G>T (p.Ala401Ser) c.1378G>T (p.Ala460Ser) c.485+19227C>A (n.485+19227C>A) c.1048G>T (p.Ala350Ser) c.1363G>T (p.Ala455Ser) c.1318G>T (p.Ala440Ser) c.1225G>T (p.Ala409Ser) | |
| 9 | g.36223406C= | CA1846334394 | CLTA,GNE | c.1471G= (p.Ala491=) c.1201G= (p.Ala401=) c.1378G= (p.Ala460=) c.485+19227C= (n.485+19227C=) c.1048G= (p.Ala350=) c.1363G= (p.Ala455=) c.1318G= (p.Ala440=) c.1225G= (p.Ala409=) | |
| 9 | g.36223406C>G | CA373427228 | CLTA,GNE | c.1471G>C (p.Ala491Pro) c.1201G>C (p.Ala401Pro) c.1378G>C (p.Ala460Pro) c.485+19227C>G (n.485+19227C>G) c.1048G>C (p.Ala350Pro) c.1363G>C (p.Ala455Pro) c.1318G>C (p.Ala440Pro) c.1225G>C (p.Ala409Pro) | |
| 9 | g.36223406C>T | CA5056496 | CLTA,GNE | c.1471G>A (p.Ala491Thr) c.1201G>A (p.Ala401Thr) c.1378G>A (p.Ala460Thr) c.485+19227C>T (n.485+19227C>T) c.1048G>A (p.Ala350Thr) c.1363G>A (p.Ala455Thr) c.1318G>A (p.Ala440Thr) c.1225G>A (p.Ala409Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.36223407T>A | CA373427235 | CLTA,GNE | c.1470A>T (p.Glu490Asp) c.1200A>T (p.Glu400Asp) c.1377A>T (p.Glu459Asp) c.485+19228T>A (n.485+19228T>A) c.1047A>T (p.Glu349Asp) c.1362A>T (p.Glu454Asp) c.1317A>T (p.Glu439Asp) c.1224A>T (p.Glu408Asp) | |
| 9 | g.36223407T>C | CA464495360 | CLTA,GNE | c.1470A>G (p.Glu490=) c.1200A>G (p.Glu400=) c.1377A>G (p.Glu459=) c.485+19228T>C (n.485+19228T>C) c.1047A>G (p.Glu349=) c.1362A>G (p.Glu454=) c.1317A>G (p.Glu439=) c.1224A>G (p.Glu408=) | gnomAD v4 |
| 9 | g.36223407T>G | CA192843932 | CLTA,GNE | c.1470A>C (p.Glu490Asp) c.1200A>C (p.Glu400Asp) c.1377A>C (p.Glu459Asp) c.485+19228T>G (n.485+19228T>G) c.1047A>C (p.Glu349Asp) c.1362A>C (p.Glu454Asp) c.1317A>C (p.Glu439Asp) c.1224A>C (p.Glu408Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.36223407T= | CA1846334399 | CLTA,GNE | c.1470A= (p.Glu490=) c.1200A= (p.Glu400=) c.1377A= (p.Glu459=) c.485+19228T= (n.485+19228T=) c.1047A= (p.Glu349=) c.1362A= (p.Glu454=) c.1317A= (p.Glu439=) c.1224A= (p.Glu408=) | |
| 9 | g.36223408T>A | CA373427238 | CLTA,GNE | c.1469A>T (p.Glu490Val) c.1199A>T (p.Glu400Val) c.1376A>T (p.Glu459Val) c.485+19229T>A (n.485+19229T>A) c.1046A>T (p.Glu349Val) c.1361A>T (p.Glu454Val) c.1316A>T (p.Glu439Val) c.1223A>T (p.Glu408Val) | |
| 9 | g.36223408T>C | CA373427242 | CLTA,GNE | c.1469A>G (p.Glu490Gly) c.1199A>G (p.Glu400Gly) c.1376A>G (p.Glu459Gly) c.485+19229T>C (n.485+19229T>C) c.1046A>G (p.Glu349Gly) c.1361A>G (p.Glu454Gly) c.1316A>G (p.Glu439Gly) c.1223A>G (p.Glu408Gly) | |
| 9 | g.36223408T>G | CA373427245 | CLTA,GNE | c.1469A>C (p.Glu490Ala) c.1199A>C (p.Glu400Ala) c.1376A>C (p.Glu459Ala) c.485+19229T>G (n.485+19229T>G) c.1046A>C (p.Glu349Ala) c.1361A>C (p.Glu454Ala) c.1316A>C (p.Glu439Ala) c.1223A>C (p.Glu408Ala) | |
| 9 | g.36223409C>A | CA373427253 | CLTA,GNE | c.1468G>T (p.Glu490Ter) c.1198G>T (p.Glu400Ter) c.1375G>T (p.Glu459Ter) c.485+19230C>A (n.485+19230C>A) c.1045G>T (p.Glu349Ter) c.1360G>T (p.Glu454Ter) c.1315G>T (p.Glu439Ter) c.1222G>T (p.Glu408Ter) | |
| 9 | g.36223409C>G | CA373427254 | CLTA,GNE | c.1468G>C (p.Glu490Gln) c.1198G>C (p.Glu400Gln) c.1375G>C (p.Glu459Gln) c.485+19230C>G (n.485+19230C>G) c.1045G>C (p.Glu349Gln) c.1360G>C (p.Glu454Gln) c.1315G>C (p.Glu439Gln) c.1222G>C (p.Glu408Gln) | |
| 9 | g.36223409C>T | CA373427255 | CLTA,GNE | c.1468G>A (p.Glu490Lys) c.1198G>A (p.Glu400Lys) c.1375G>A (p.Glu459Lys) c.485+19230C>T (n.485+19230C>T) c.1045G>A (p.Glu349Lys) c.1360G>A (p.Glu454Lys) c.1315G>A (p.Glu439Lys) c.1222G>A (p.Glu408Lys) | |
| 9 | g.36223410T>A | CA464495364 | CLTA,GNE | c.1467A>T (p.Ala489=) c.1197A>T (p.Ala399=) c.1374A>T (p.Ala458=) c.485+19231T>A (n.485+19231T>A) c.1044A>T (p.Ala348=) c.1359A>T (p.Ala453=) c.1314A>T (p.Ala438=) c.1221A>T (p.Ala407=) | |
| 9 | g.36223410T>C | CA464495365 | CLTA,GNE | c.1467A>G (p.Ala489=) c.1197A>G (p.Ala399=) c.1374A>G (p.Ala458=) c.485+19231T>C (n.485+19231T>C) c.1044A>G (p.Ala348=) c.1359A>G (p.Ala453=) c.1314A>G (p.Ala438=) c.1221A>G (p.Ala407=) | |
| 9 | g.36223410T>G | CA464495366 | CLTA,GNE | c.1467A>C (p.Ala489=) c.1197A>C (p.Ala399=) c.1374A>C (p.Ala458=) c.485+19231T>G (n.485+19231T>G) c.1044A>C (p.Ala348=) c.1359A>C (p.Ala453=) c.1314A>C (p.Ala438=) c.1221A>C (p.Ala407=) | |
| 9 | g.36223411G>A | CA373427263 | CLTA,GNE | c.1466C>T (p.Ala489Val) c.1196C>T (p.Ala399Val) c.1373C>T (p.Ala458Val) c.485+19232G>A (n.485+19232G>A) c.1043C>T (p.Ala348Val) c.1358C>T (p.Ala453Val) c.1313C>T (p.Ala438Val) c.1220C>T (p.Ala407Val) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.36223411G>C | CA373427261 | CLTA,GNE | c.1466C>G (p.Ala489Gly) c.1196C>G (p.Ala399Gly) c.1373C>G (p.Ala458Gly) c.485+19232G>C (n.485+19232G>C) c.1043C>G (p.Ala348Gly) c.1358C>G (p.Ala453Gly) c.1313C>G (p.Ala438Gly) c.1220C>G (p.Ala407Gly) | |
| 9 | g.36223411G= | CA1846334405 | CLTA,GNE | c.1466C= (p.Ala489=) c.1196C= (p.Ala399=) c.1373C= (p.Ala458=) c.485+19232G= (n.485+19232G=) c.1043C= (p.Ala348=) c.1358C= (p.Ala453=) c.1313C= (p.Ala438=) c.1220C= (p.Ala407=) | |
| 9 | g.36223411G>T | CA373427257 | CLTA,GNE | c.1466C>A (p.Ala489Glu) c.1196C>A (p.Ala399Glu) c.1373C>A (p.Ala458Glu) c.485+19232G>T (n.485+19232G>T) c.1043C>A (p.Ala348Glu) c.1358C>A (p.Ala453Glu) c.1313C>A (p.Ala438Glu) c.1220C>A (p.Ala407Glu) | |
| 9 | g.36223412C>A | CA373427265 | CLTA,GNE | c.1465G>T (p.Ala489Ser) c.1195G>T (p.Ala399Ser) c.1372G>T (p.Ala458Ser) c.485+19233C>A (n.485+19233C>A) c.1042G>T (p.Ala348Ser) c.1357G>T (p.Ala453Ser) c.1312G>T (p.Ala438Ser) c.1219G>T (p.Ala407Ser) | |
| 9 | g.36223412C>G | CA373427266 | CLTA,GNE | c.1465G>C (p.Ala489Pro) c.1195G>C (p.Ala399Pro) c.1372G>C (p.Ala458Pro) c.485+19233C>G (n.485+19233C>G) c.1042G>C (p.Ala348Pro) c.1357G>C (p.Ala453Pro) c.1312G>C (p.Ala438Pro) c.1219G>C (p.Ala407Pro) | |
| 9 | g.36223412C>T | CA373427267 | CLTA,GNE | c.1465G>A (p.Ala489Thr) c.1195G>A (p.Ala399Thr) c.1372G>A (p.Ala458Thr) c.485+19233C>T (n.485+19233C>T) c.1042G>A (p.Ala348Thr) c.1357G>A (p.Ala453Thr) c.1312G>A (p.Ala438Thr) c.1219G>A (p.Ala407Thr) | |
| 9 | g.36223413T>A | CA464495370 | CLTA,GNE | c.1464A>T (p.Ala488=) c.1194A>T (p.Ala398=) c.1371A>T (p.Ala457=) c.485+19234T>A (n.485+19234T>A) c.1041A>T (p.Ala347=) c.1356A>T (p.Ala452=) c.1311A>T (p.Ala437=) c.1218A>T (p.Ala406=) | |
| 9 | g.36223413T>C | CA464495371 | CLTA,GNE | c.1464A>G (p.Ala488=) c.1194A>G (p.Ala398=) c.1371A>G (p.Ala457=) c.485+19234T>C (n.485+19234T>C) c.1041A>G (p.Ala347=) c.1356A>G (p.Ala452=) c.1311A>G (p.Ala437=) c.1218A>G (p.Ala406=) | |
| 9 | g.36223413T>G | CA464495372 | CLTA,GNE | c.1464A>C (p.Ala488=) c.1194A>C (p.Ala398=) c.1371A>C (p.Ala457=) c.485+19234T>G (n.485+19234T>G) c.1041A>C (p.Ala347=) c.1356A>C (p.Ala452=) c.1311A>C (p.Ala437=) c.1218A>C (p.Ala406=) | |
| 9 | g.36223414G>A | CA373427268 | CLTA,GNE | c.1463C>T (p.Ala488Val) c.1193C>T (p.Ala398Val) c.1370C>T (p.Ala457Val) c.485+19235G>A (n.485+19235G>A) c.1040C>T (p.Ala347Val) c.1355C>T (p.Ala452Val) c.1310C>T (p.Ala437Val) c.1217C>T (p.Ala406Val) | gnomAD v4 |
| 9 | g.36223414G>C | CA373427269 | CLTA,GNE | c.1463C>G (p.Ala488Gly) c.1193C>G (p.Ala398Gly) c.1370C>G (p.Ala457Gly) c.485+19235G>C (n.485+19235G>C) c.1040C>G (p.Ala347Gly) c.1355C>G (p.Ala452Gly) c.1310C>G (p.Ala437Gly) c.1217C>G (p.Ala406Gly) | |
| 9 | g.36223414G>T | CA373427270 | CLTA,GNE | c.1463C>A (p.Ala488Glu) c.1193C>A (p.Ala398Glu) c.1370C>A (p.Ala457Glu) c.485+19235G>T (n.485+19235G>T) c.1040C>A (p.Ala347Glu) c.1355C>A (p.Ala452Glu) c.1310C>A (p.Ala437Glu) c.1217C>A (p.Ala406Glu) | |
| 9 | g.36223415C>A | CA373427272 | CLTA,GNE | c.1462G>T (p.Ala488Ser) c.1192G>T (p.Ala398Ser) c.1369G>T (p.Ala457Ser) c.485+19236C>A (n.485+19236C>A) c.1039G>T (p.Ala347Ser) c.1354G>T (p.Ala452Ser) c.1309G>T (p.Ala437Ser) c.1216G>T (p.Ala406Ser) | |
| 9 | g.36223415C>G | CA373427275 | CLTA,GNE | c.1462G>C (p.Ala488Pro) c.1192G>C (p.Ala398Pro) c.1369G>C (p.Ala457Pro) c.485+19236C>G (n.485+19236C>G) c.1039G>C (p.Ala347Pro) c.1354G>C (p.Ala452Pro) c.1309G>C (p.Ala437Pro) c.1216G>C (p.Ala406Pro) | |
| 9 | g.36223415C>T | CA373427278 | CLTA,GNE | c.1462G>A (p.Ala488Thr) c.1192G>A (p.Ala398Thr) c.1369G>A (p.Ala457Thr) c.485+19236C>T (n.485+19236C>T) c.1039G>A (p.Ala347Thr) c.1354G>A (p.Ala452Thr) c.1309G>A (p.Ala437Thr) c.1216G>A (p.Ala406Thr) | ClinVar dbSNP gnomAD v4 |
| 9 | g.36223416A= | CA1846334410 | CLTA,GNE | c.1461T= (p.Ala487=) c.1191T= (p.Ala397=) c.1368T= (p.Ala456=) c.485+19237A= (n.485+19237A=) c.1038T= (p.Ala346=) c.1353T= (p.Ala451=) c.1308T= (p.Ala436=) c.1215T= (p.Ala405=) | |
| 9 | g.36223416A>C | CA464495375 | CLTA,GNE | c.1461T>G (p.Ala487=) c.1191T>G (p.Ala397=) c.1368T>G (p.Ala456=) c.485+19237A>C (n.485+19237A>C) c.1038T>G (p.Ala346=) c.1353T>G (p.Ala451=) c.1308T>G (p.Ala436=) c.1215T>G (p.Ala405=) | |
| 9 | g.36223416A>G | CA464495376 | CLTA,GNE | c.1461T>C (p.Ala487=) c.1191T>C (p.Ala397=) c.1368T>C (p.Ala456=) c.485+19237A>G (n.485+19237A>G) c.1038T>C (p.Ala346=) c.1353T>C (p.Ala451=) c.1308T>C (p.Ala436=) c.1215T>C (p.Ala405=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.36223416A>T | CA5056497 | CLTA,GNE | c.1461T>A (p.Ala487=) c.1191T>A (p.Ala397=) c.1368T>A (p.Ala456=) c.485+19237A>T (n.485+19237A>T) c.1038T>A (p.Ala346=) c.1353T>A (p.Ala451=) c.1308T>A (p.Ala436=) c.1215T>A (p.Ala405=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.36223417G>A | CA373427279 | CLTA,GNE | c.1460C>T (p.Ala487Val) c.1190C>T (p.Ala397Val) c.1367C>T (p.Ala456Val) c.485+19238G>A (n.485+19238G>A) c.1037C>T (p.Ala346Val) c.1352C>T (p.Ala451Val) c.1307C>T (p.Ala436Val) c.1214C>T (p.Ala405Val) | |
| 9 | g.36223417G>C | CA373427280 | CLTA,GNE | c.1460C>G (p.Ala487Gly) c.1190C>G (p.Ala397Gly) c.1367C>G (p.Ala456Gly) c.485+19238G>C (n.485+19238G>C) c.1037C>G (p.Ala346Gly) c.1352C>G (p.Ala451Gly) c.1307C>G (p.Ala436Gly) c.1214C>G (p.Ala405Gly) |