Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
9 | g.36223417G>T | CA373427281 | CLTA,GNE | c.1460C>A (p.Ala487Asp) c.1190C>A (p.Ala397Asp) c.1367C>A (p.Ala456Asp) c.485+19238G>T (n.485+19238G>T) c.1037C>A (p.Ala346Asp) c.1352C>A (p.Ala451Asp) c.1307C>A (p.Ala436Asp) c.1214C>A (p.Ala405Asp) | |
9 | g.36223418C>A | CA373427290 | CLTA,GNE | c.1459G>T (p.Ala487Ser) c.1189G>T (p.Ala397Ser) c.1366G>T (p.Ala456Ser) c.485+19239C>A (n.485+19239C>A) c.1036G>T (p.Ala346Ser) c.1351G>T (p.Ala451Ser) c.1306G>T (p.Ala436Ser) c.1213G>T (p.Ala405Ser) | |
9 | g.36223418C>G | CA373427292 | CLTA,GNE | c.1459G>C (p.Ala487Pro) c.1189G>C (p.Ala397Pro) c.1366G>C (p.Ala456Pro) c.485+19239C>G (n.485+19239C>G) c.1036G>C (p.Ala346Pro) c.1351G>C (p.Ala451Pro) c.1306G>C (p.Ala436Pro) c.1213G>C (p.Ala405Pro) | |
9 | g.36223418C>T | CA373427284 | CLTA,GNE | c.1459G>A (p.Ala487Thr) c.1189G>A (p.Ala397Thr) c.1366G>A (p.Ala456Thr) c.485+19239C>T (n.485+19239C>T) c.1036G>A (p.Ala346Thr) c.1351G>A (p.Ala451Thr) c.1306G>A (p.Ala436Thr) c.1213G>A (p.Ala405Thr) | |
9 | g.36223419T>A | CA373427293 | CLTA,GNE | c.1458A>T (p.Glu486Asp) c.1188A>T (p.Glu396Asp) c.1365A>T (p.Glu455Asp) c.485+19240T>A (n.485+19240T>A) c.1035A>T (p.Glu345Asp) c.1350A>T (p.Glu450Asp) c.1305A>T (p.Glu435Asp) c.1212A>T (p.Glu404Asp) | |
9 | g.36223419T>C | CA464495380 | CLTA,GNE | c.1458A>G (p.Glu486=) c.1188A>G (p.Glu396=) c.1365A>G (p.Glu455=) c.485+19240T>C (n.485+19240T>C) c.1035A>G (p.Glu345=) c.1350A>G (p.Glu450=) c.1305A>G (p.Glu435=) c.1212A>G (p.Glu404=) | ClinVar dbSNP |
9 | g.36223419T>G | CA373427295 | CLTA,GNE | c.1458A>C (p.Glu486Asp) c.1188A>C (p.Glu396Asp) c.1365A>C (p.Glu455Asp) c.485+19240T>G (n.485+19240T>G) c.1035A>C (p.Glu345Asp) c.1350A>C (p.Glu450Asp) c.1305A>C (p.Glu435Asp) c.1212A>C (p.Glu404Asp) | gnomAD v4 |
9 | g.36223420T>A | CA373427296 | CLTA,GNE | c.1457A>T (p.Glu486Val) c.1187A>T (p.Glu396Val) c.1364A>T (p.Glu455Val) c.485+19241T>A (n.485+19241T>A) c.1034A>T (p.Glu345Val) c.1349A>T (p.Glu450Val) c.1304A>T (p.Glu435Val) c.1211A>T (p.Glu404Val) | |
9 | g.36223420T>C | CA373427298 | CLTA,GNE | c.1457A>G (p.Glu486Gly) c.1187A>G (p.Glu396Gly) c.1364A>G (p.Glu455Gly) c.485+19241T>C (n.485+19241T>C) c.1034A>G (p.Glu345Gly) c.1349A>G (p.Glu450Gly) c.1304A>G (p.Glu435Gly) c.1211A>G (p.Glu404Gly) | |
9 | g.36223420T>G | CA373427297 | CLTA,GNE | c.1457A>C (p.Glu486Ala) c.1187A>C (p.Glu396Ala) c.1364A>C (p.Glu455Ala) c.485+19241T>G (n.485+19241T>G) c.1034A>C (p.Glu345Ala) c.1349A>C (p.Glu450Ala) c.1304A>C (p.Glu435Ala) c.1211A>C (p.Glu404Ala) | |
9 | g.36223421C>A | CA373427299 | CLTA,GNE | c.1456G>T (p.Glu486Ter) c.1186G>T (p.Glu396Ter) c.1363G>T (p.Glu455Ter) c.485+19242C>A (n.485+19242C>A) c.1033G>T (p.Glu345Ter) c.1348G>T (p.Glu450Ter) c.1303G>T (p.Glu435Ter) c.1210G>T (p.Glu404Ter) | |
9 | g.36223421C>G | CA373427300 | CLTA,GNE | c.1456G>C (p.Glu486Gln) c.1186G>C (p.Glu396Gln) c.1363G>C (p.Glu455Gln) c.485+19242C>G (n.485+19242C>G) c.1033G>C (p.Glu345Gln) c.1348G>C (p.Glu450Gln) c.1303G>C (p.Glu435Gln) c.1210G>C (p.Glu404Gln) | |
9 | g.36223421C>T | CA373427301 | CLTA,GNE | c.1456G>A (p.Glu486Lys) c.1186G>A (p.Glu396Lys) c.1363G>A (p.Glu455Lys) c.485+19242C>T (n.485+19242C>T) c.1033G>A (p.Glu345Lys) c.1348G>A (p.Glu450Lys) c.1303G>A (p.Glu435Lys) c.1210G>A (p.Glu404Lys) | dbSNP |
9 | g.36223422C>A | CA464495384 | CLTA,GNE | c.1455G>T (p.Val485=) c.1185G>T (p.Val395=) c.1362G>T (p.Val454=) c.485+19243C>A (n.485+19243C>A) c.1032G>T (p.Val344=) c.1347G>T (p.Val449=) c.1302G>T (p.Val434=) c.1209G>T (p.Val403=) | |
9 | g.36223422C>G | CA464495385 | CLTA,GNE | c.1455G>C (p.Val485=) c.1185G>C (p.Val395=) c.1362G>C (p.Val454=) c.485+19243C>G (n.485+19243C>G) c.1032G>C (p.Val344=) c.1347G>C (p.Val449=) c.1302G>C (p.Val434=) c.1209G>C (p.Val403=) | ClinVar |
9 | g.36223422C>T | CA464495386 | CLTA,GNE | c.1455G>A (p.Val485=) c.1185G>A (p.Val395=) c.1362G>A (p.Val454=) c.485+19243C>T (n.485+19243C>T) c.1032G>A (p.Val344=) c.1347G>A (p.Val449=) c.1302G>A (p.Val434=) c.1209G>A (p.Val403=) | |
9 | g.36223428_36223429del | CA2843744531 | CLTA,GNE | c.1454_1455del (p.Val485GlyfsTer?) c.1184_1185del (p.Val395GlyfsTer?) c.1361_1362del (p.Val454GlyfsTer?) c.1361_1362del (p.Val454GlyfsTer27) c.485+19249_485+19250del (n.485+19249_485+19250del) c.1031_1032del (p.Val344GlyfsTer?) c.1346_1347del (p.Val449GlyfsTer?) c.1301_1302del (p.Val434GlyfsTer?) c.1208_1209del (p.Val403GlyfsTer?) | |
9 | g.36223423A>C | CA373427302 | CLTA,GNE | c.1454T>G (p.Val485Gly) c.1184T>G (p.Val395Gly) c.1361T>G (p.Val454Gly) c.485+19244A>C (n.485+19244A>C) c.1031T>G (p.Val344Gly) c.1346T>G (p.Val449Gly) c.1301T>G (p.Val434Gly) c.1208T>G (p.Val403Gly) | |
9 | g.36223423A>G | CA373427304 | CLTA,GNE | c.1454T>C (p.Val485Ala) c.1184T>C (p.Val395Ala) c.1361T>C (p.Val454Ala) c.485+19244A>G (n.485+19244A>G) c.1031T>C (p.Val344Ala) c.1346T>C (p.Val449Ala) c.1301T>C (p.Val434Ala) c.1208T>C (p.Val403Ala) | ClinVar dbSNP |
9 | g.36223423A>T | CA373427306 | CLTA,GNE | c.1454T>A (p.Val485Glu) c.1184T>A (p.Val395Glu) c.1361T>A (p.Val454Glu) c.485+19244A>T (n.485+19244A>T) c.1031T>A (p.Val344Glu) c.1346T>A (p.Val449Glu) c.1301T>A (p.Val434Glu) c.1208T>A (p.Val403Glu) | gnomAD v4 |
9 | g.36223424C>A | CA373427308 | CLTA,GNE | c.1453G>T (p.Val485Leu) c.1183G>T (p.Val395Leu) c.1360G>T (p.Val454Leu) c.485+19245C>A (n.485+19245C>A) c.1030G>T (p.Val344Leu) c.1345G>T (p.Val449Leu) c.1300G>T (p.Val434Leu) c.1207G>T (p.Val403Leu) | |
9 | g.36223424C= | CA1846334415 | CLTA,GNE | c.1453G= (p.Val485=) c.1183G= (p.Val395=) c.1360G= (p.Val454=) c.485+19245C= (n.485+19245C=) c.1030G= (p.Val344=) c.1345G= (p.Val449=) c.1300G= (p.Val434=) c.1207G= (p.Val403=) | |
9 | g.36223424C>G | CA373427310 | CLTA,GNE | c.1453G>C (p.Val485Leu) c.1183G>C (p.Val395Leu) c.1360G>C (p.Val454Leu) c.485+19245C>G (n.485+19245C>G) c.1030G>C (p.Val344Leu) c.1345G>C (p.Val449Leu) c.1300G>C (p.Val434Leu) c.1207G>C (p.Val403Leu) | |
9 | g.36223424C>T | CA373427311 | CLTA,GNE | c.1453G>A (p.Val485Met) c.1183G>A (p.Val395Met) c.1360G>A (p.Val454Met) c.485+19245C>T (n.485+19245C>T) c.1030G>A (p.Val344Met) c.1345G>A (p.Val449Met) c.1300G>A (p.Val434Met) c.1207G>A (p.Val403Met) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.36223425A>C | CA373427312 | CLTA,GNE | c.1452T>G (p.Cys484Trp) c.1182T>G (p.Cys394Trp) c.1359T>G (p.Cys453Trp) c.485+19246A>C (n.485+19246A>C) c.1029T>G (p.Cys343Trp) c.1344T>G (p.Cys448Trp) c.1299T>G (p.Cys433Trp) c.1206T>G (p.Cys402Trp) | |
9 | g.36223425A>G | CA464495387 | CLTA,GNE | c.1452T>C (p.Cys484=) c.1182T>C (p.Cys394=) c.1359T>C (p.Cys453=) c.485+19246A>G (n.485+19246A>G) c.1029T>C (p.Cys343=) c.1344T>C (p.Cys448=) c.1299T>C (p.Cys433=) c.1206T>C (p.Cys402=) | |
9 | g.36223425A>T | CA373427314 | CLTA,GNE | c.1452T>A (p.Cys484Ter) c.1182T>A (p.Cys394Ter) c.1359T>A (p.Cys453Ter) c.485+19246A>T (n.485+19246A>T) c.1029T>A (p.Cys343Ter) c.1344T>A (p.Cys448Ter) c.1299T>A (p.Cys433Ter) c.1206T>A (p.Cys402Ter) | |
9 | g.36223426C>A | CA373427315 | CLTA,GNE | c.1451G>T (p.Cys484Phe) c.1181G>T (p.Cys394Phe) c.1358G>T (p.Cys453Phe) c.485+19247C>A (n.485+19247C>A) c.1028G>T (p.Cys343Phe) c.1343G>T (p.Cys448Phe) c.1298G>T (p.Cys433Phe) c.1205G>T (p.Cys402Phe) | |
9 | g.36223426C>G | CA373427317 | CLTA,GNE | c.1451G>C (p.Cys484Ser) c.1181G>C (p.Cys394Ser) c.1358G>C (p.Cys453Ser) c.485+19247C>G (n.485+19247C>G) c.1028G>C (p.Cys343Ser) c.1343G>C (p.Cys448Ser) c.1298G>C (p.Cys433Ser) c.1205G>C (p.Cys402Ser) | |
9 | g.36223426C>T | CA373427318 | CLTA,GNE | c.1451G>A (p.Cys484Tyr) c.1181G>A (p.Cys394Tyr) c.1358G>A (p.Cys453Tyr) c.485+19247C>T (n.485+19247C>T) c.1028G>A (p.Cys343Tyr) c.1343G>A (p.Cys448Tyr) c.1298G>A (p.Cys433Tyr) c.1205G>A (p.Cys402Tyr) | gnomAD v4 |
9 | g.36223427A= | CA1846334422 | CLTA,GNE | c.1450T= (p.Cys484=) c.1180T= (p.Cys394=) c.1357T= (p.Cys453=) c.485+19248A= (n.485+19248A=) c.1027T= (p.Cys343=) c.1342T= (p.Cys448=) c.1297T= (p.Cys433=) c.1204T= (p.Cys402=) | |
9 | g.36223427A>C | CA192843934 | CLTA,GNE | c.1450T>G (p.Cys484Gly) c.1180T>G (p.Cys394Gly) c.1357T>G (p.Cys453Gly) c.485+19248A>C (n.485+19248A>C) c.1027T>G (p.Cys343Gly) c.1342T>G (p.Cys448Gly) c.1297T>G (p.Cys433Gly) c.1204T>G (p.Cys402Gly) | dbSNP |
9 | g.36223427A>G | CA373427322 | CLTA,GNE | c.1450T>C (p.Cys484Arg) c.1180T>C (p.Cys394Arg) c.1357T>C (p.Cys453Arg) c.485+19248A>G (n.485+19248A>G) c.1027T>C (p.Cys343Arg) c.1342T>C (p.Cys448Arg) c.1297T>C (p.Cys433Arg) c.1204T>C (p.Cys402Arg) | |
9 | g.36223427A>T | CA373427320 | CLTA,GNE | c.1450T>A (p.Cys484Ser) c.1180T>A (p.Cys394Ser) c.1357T>A (p.Cys453Ser) c.485+19248A>T (n.485+19248A>T) c.1027T>A (p.Cys343Ser) c.1342T>A (p.Cys448Ser) c.1297T>A (p.Cys433Ser) c.1204T>A (p.Cys402Ser) | |
9 | g.36223428_36223438del | CA2689945890 | CLTA,GNE | c.1440_1450del (p.Ile480MetfsTer?) c.1170_1180del (p.Ile390MetfsTer?) c.1347_1357del (p.Ile449MetfsTer?) c.1347_1357del (p.Ile449MetfsTer29) c.485+19249_485+19259del (n.485+19249_485+19259del) c.1017_1027del (p.Ile339MetfsTer?) c.1332_1342del (p.Ile444MetfsTer?) c.1287_1297del (p.Ile429MetfsTer?) c.1194_1204del (p.Ile398MetfsTer?) | gnomAD v4 |
9 | g.36223428C>A | CA373427325 | CLTA,GNE | c.1449G>T (p.Met483Ile) c.1179G>T (p.Met393Ile) c.1356G>T (p.Met452Ile) c.485+19249C>A (n.485+19249C>A) c.1026G>T (p.Met342Ile) c.1341G>T (p.Met447Ile) c.1296G>T (p.Met432Ile) c.1203G>T (p.Met401Ile) | |
9 | g.36223428C>G | CA373427326 | CLTA,GNE | c.1449G>C (p.Met483Ile) c.1179G>C (p.Met393Ile) c.1356G>C (p.Met452Ile) c.485+19249C>G (n.485+19249C>G) c.1026G>C (p.Met342Ile) c.1341G>C (p.Met447Ile) c.1296G>C (p.Met432Ile) c.1203G>C (p.Met401Ile) | |
9 | g.36223428C>T | CA373427327 | CLTA,GNE | c.1449G>A (p.Met483Ile) c.1179G>A (p.Met393Ile) c.1356G>A (p.Met452Ile) c.485+19249C>T (n.485+19249C>T) c.1026G>A (p.Met342Ile) c.1341G>A (p.Met447Ile) c.1296G>A (p.Met432Ile) c.1203G>A (p.Met401Ile) | gnomAD v4 |
9 | g.36223429A>C | CA373427328 | CLTA,GNE | c.1448T>G (p.Met483Arg) c.1178T>G (p.Met393Arg) c.1355T>G (p.Met452Arg) c.485+19250A>C (n.485+19250A>C) c.1025T>G (p.Met342Arg) c.1340T>G (p.Met447Arg) c.1295T>G (p.Met432Arg) c.1202T>G (p.Met401Arg) | |
9 | g.36223429A>G | CA373427329 | CLTA,GNE | c.1448T>C (p.Met483Thr) c.1178T>C (p.Met393Thr) c.1355T>C (p.Met452Thr) c.485+19250A>G (n.485+19250A>G) c.1025T>C (p.Met342Thr) c.1340T>C (p.Met447Thr) c.1295T>C (p.Met432Thr) c.1202T>C (p.Met401Thr) | |
9 | g.36223429A>T | CA373427331 | CLTA,GNE | c.1448T>A (p.Met483Lys) c.1178T>A (p.Met393Lys) c.1355T>A (p.Met452Lys) c.485+19250A>T (n.485+19250A>T) c.1025T>A (p.Met342Lys) c.1340T>A (p.Met447Lys) c.1295T>A (p.Met432Lys) c.1202T>A (p.Met401Lys) | |
9 | g.36223430T>A | CA373427333 | CLTA,GNE | c.1447A>T (p.Met483Leu) c.1177A>T (p.Met393Leu) c.1354A>T (p.Met452Leu) c.485+19251T>A (n.485+19251T>A) c.1024A>T (p.Met342Leu) c.1339A>T (p.Met447Leu) c.1294A>T (p.Met432Leu) c.1201A>T (p.Met401Leu) | |
9 | g.36223430T>C | CA5056498 | CLTA,GNE | c.1447A>G (p.Met483Val) c.1177A>G (p.Met393Val) c.1354A>G (p.Met452Val) c.485+19251T>C (n.485+19251T>C) c.1024A>G (p.Met342Val) c.1339A>G (p.Met447Val) c.1294A>G (p.Met432Val) c.1201A>G (p.Met401Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36223430T>G | CA373427334 | CLTA,GNE | c.1447A>C (p.Met483Leu) c.1177A>C (p.Met393Leu) c.1354A>C (p.Met452Leu) c.485+19251T>G (n.485+19251T>G) c.1024A>C (p.Met342Leu) c.1339A>C (p.Met447Leu) c.1294A>C (p.Met432Leu) c.1201A>C (p.Met401Leu) | |
9 | g.36223430T= | CA1846334426 | CLTA,GNE | c.1447A= (p.Met483=) c.1177A= (p.Met393=) c.1354A= (p.Met452=) c.485+19251T= (n.485+19251T=) c.1024A= (p.Met342=) c.1339A= (p.Met447=) c.1294A= (p.Met432=) c.1201A= (p.Met401=) | |
9 | g.36223431C>A | CA373427336 | CLTA,GNE | c.1446G>T (p.Gln482His) c.1176G>T (p.Gln392His) c.1353G>T (p.Gln451His) c.485+19252C>A (n.485+19252C>A) c.1023G>T (p.Gln341His) c.1338G>T (p.Gln446His) c.1293G>T (p.Gln431His) c.1200G>T (p.Gln400His) | |
9 | g.36223431C>G | CA373427338 | CLTA,GNE | c.1446G>C (p.Gln482His) c.1176G>C (p.Gln392His) c.1353G>C (p.Gln451His) c.485+19252C>G (n.485+19252C>G) c.1023G>C (p.Gln341His) c.1338G>C (p.Gln446His) c.1293G>C (p.Gln431His) c.1200G>C (p.Gln400His) | |
9 | g.36223431C>T | CA464495392 | CLTA,GNE | c.1446G>A (p.Gln482=) c.1176G>A (p.Gln392=) c.1353G>A (p.Gln451=) c.485+19252C>T (n.485+19252C>T) c.1023G>A (p.Gln341=) c.1338G>A (p.Gln446=) c.1293G>A (p.Gln431=) c.1200G>A (p.Gln400=) | |
9 | g.36223432T>A | CA373427340 | CLTA,GNE | c.1445A>T (p.Gln482Leu) c.1175A>T (p.Gln392Leu) c.1352A>T (p.Gln451Leu) c.485+19253T>A (n.485+19253T>A) c.1022A>T (p.Gln341Leu) c.1337A>T (p.Gln446Leu) c.1292A>T (p.Gln431Leu) c.1199A>T (p.Gln400Leu) | |
9 | g.36223432T>C | CA373427342 | CLTA,GNE | c.1445A>G (p.Gln482Arg) c.1175A>G (p.Gln392Arg) c.1352A>G (p.Gln451Arg) c.485+19253T>C (n.485+19253T>C) c.1022A>G (p.Gln341Arg) c.1337A>G (p.Gln446Arg) c.1292A>G (p.Gln431Arg) c.1199A>G (p.Gln400Arg) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.36223432T>G | CA373427343 | CLTA,GNE | c.1445A>C (p.Gln482Pro) c.1175A>C (p.Gln392Pro) c.1352A>C (p.Gln451Pro) c.485+19253T>G (n.485+19253T>G) c.1022A>C (p.Gln341Pro) c.1337A>C (p.Gln446Pro) c.1292A>C (p.Gln431Pro) c.1199A>C (p.Gln400Pro) | ClinVar |
9 | g.36223432T= | CA1846334432 | CLTA,GNE | c.1445A= (p.Gln482=) c.1175A= (p.Gln392=) c.1352A= (p.Gln451=) c.485+19253T= (n.485+19253T=) c.1022A= (p.Gln341=) c.1337A= (p.Gln446=) c.1292A= (p.Gln431=) c.1199A= (p.Gln400=) | |
9 | g.36223433G>A | CA5056499 | CLTA,GNE | c.1444C>T (p.Gln482Ter) c.1174C>T (p.Gln392Ter) c.1351C>T (p.Gln451Ter) c.485+19254G>A (n.485+19254G>A) c.1021C>T (p.Gln341Ter) c.1336C>T (p.Gln446Ter) c.1291C>T (p.Gln431Ter) c.1198C>T (p.Gln400Ter) | dbSNP ExAC gnomAD v3 gnomAD v4 |
9 | g.36223433G>C | CA373427349 | CLTA,GNE | c.1444C>G (p.Gln482Glu) c.1174C>G (p.Gln392Glu) c.1351C>G (p.Gln451Glu) c.485+19254G>C (n.485+19254G>C) c.1021C>G (p.Gln341Glu) c.1336C>G (p.Gln446Glu) c.1291C>G (p.Gln431Glu) c.1198C>G (p.Gln400Glu) | |
9 | g.36223433G= | CA1846334433 | CLTA,GNE | c.1444C= (p.Gln482=) c.1174C= (p.Gln392=) c.1351C= (p.Gln451=) c.485+19254G= (n.485+19254G=) c.1021C= (p.Gln341=) c.1336C= (p.Gln446=) c.1291C= (p.Gln431=) c.1198C= (p.Gln400=) | |
9 | g.36223433G>T | CA373427347 | CLTA,GNE | c.1444C>A (p.Gln482Lys) c.1174C>A (p.Gln392Lys) c.1351C>A (p.Gln451Lys) c.485+19254G>T (n.485+19254G>T) c.1021C>A (p.Gln341Lys) c.1336C>A (p.Gln446Lys) c.1291C>A (p.Gln431Lys) c.1198C>A (p.Gln400Lys) | |
9 | g.36223434T>A | CA464495395 | CLTA,GNE | c.1443A>T (p.Leu481=) c.1173A>T (p.Leu391=) c.1350A>T (p.Leu450=) c.485+19255T>A (n.485+19255T>A) c.1020A>T (p.Leu340=) c.1335A>T (p.Leu445=) c.1290A>T (p.Leu430=) c.1197A>T (p.Leu399=) | |
9 | g.36223434T>C | CA464495394 | CLTA,GNE | c.1443A>G (p.Leu481=) c.1173A>G (p.Leu391=) c.1350A>G (p.Leu450=) c.485+19255T>C (n.485+19255T>C) c.1020A>G (p.Leu340=) c.1335A>G (p.Leu445=) c.1290A>G (p.Leu430=) c.1197A>G (p.Leu399=) | ClinVar dbSNP gnomAD v4 |
9 | g.36223434T>G | CA464495393 | CLTA,GNE | c.1443A>C (p.Leu481=) c.1173A>C (p.Leu391=) c.1350A>C (p.Leu450=) c.485+19255T>G (n.485+19255T>G) c.1020A>C (p.Leu340=) c.1335A>C (p.Leu445=) c.1290A>C (p.Leu430=) c.1197A>C (p.Leu399=) | gnomAD v4 |
9 | g.36223434T= | CA1846334437 | CLTA,GNE | c.1443A= (p.Leu481=) c.1173A= (p.Leu391=) c.1350A= (p.Leu450=) c.485+19255T= (n.485+19255T=) c.1020A= (p.Leu340=) c.1335A= (p.Leu445=) c.1290A= (p.Leu430=) c.1197A= (p.Leu399=) | |
9 | g.36223435A= | CA1846334440 | CLTA,GNE | c.1442T= (p.Leu481=) c.1172T= (p.Leu391=) c.1349T= (p.Leu450=) c.485+19256A= (n.485+19256A=) c.1019T= (p.Leu340=) c.1334T= (p.Leu445=) c.1289T= (p.Leu430=) c.1196T= (p.Leu399=) | |
9 | g.36223435A>C | CA373427352 | CLTA,GNE | c.1442T>G (p.Leu481Arg) c.1172T>G (p.Leu391Arg) c.1349T>G (p.Leu450Arg) c.485+19256A>C (n.485+19256A>C) c.1019T>G (p.Leu340Arg) c.1334T>G (p.Leu445Arg) c.1289T>G (p.Leu430Arg) c.1196T>G (p.Leu399Arg) | |
9 | g.36223435A>G | CA373427354 | CLTA,GNE | c.1442T>C (p.Leu481Pro) c.1172T>C (p.Leu391Pro) c.1349T>C (p.Leu450Pro) c.485+19256A>G (n.485+19256A>G) c.1019T>C (p.Leu340Pro) c.1334T>C (p.Leu445Pro) c.1289T>C (p.Leu430Pro) c.1196T>C (p.Leu399Pro) | dbSNP |
9 | g.36223435A>T | CA373427355 | CLTA,GNE | c.1442T>A (p.Leu481Gln) c.1172T>A (p.Leu391Gln) c.1349T>A (p.Leu450Gln) c.485+19256A>T (n.485+19256A>T) c.1019T>A (p.Leu340Gln) c.1334T>A (p.Leu445Gln) c.1289T>A (p.Leu430Gln) c.1196T>A (p.Leu399Gln) | |
9 | g.36223436G>A | CA464495397 | CLTA,GNE | c.1441C>T (p.Leu481=) c.1171C>T (p.Leu391=) c.1348C>T (p.Leu450=) c.485+19257G>A (n.485+19257G>A) c.1018C>T (p.Leu340=) c.1333C>T (p.Leu445=) c.1288C>T (p.Leu430=) c.1195C>T (p.Leu399=) | |
9 | g.36223436G>C | CA373427356 | CLTA,GNE | c.1441C>G (p.Leu481Val) c.1171C>G (p.Leu391Val) c.1348C>G (p.Leu450Val) c.485+19257G>C (n.485+19257G>C) c.1018C>G (p.Leu340Val) c.1333C>G (p.Leu445Val) c.1288C>G (p.Leu430Val) c.1195C>G (p.Leu399Val) | dbSNP |
9 | g.36223436G= | CA1846334443 | CLTA,GNE | c.1441C= (p.Leu481=) c.1171C= (p.Leu391=) c.1348C= (p.Leu450=) c.485+19257G= (n.485+19257G=) c.1018C= (p.Leu340=) c.1333C= (p.Leu445=) c.1288C= (p.Leu430=) c.1195C= (p.Leu399=) | |
9 | g.36223436G>T | CA373427358 | CLTA,GNE | c.1441C>A (p.Leu481Ile) c.1171C>A (p.Leu391Ile) c.1348C>A (p.Leu450Ile) c.485+19257G>T (n.485+19257G>T) c.1018C>A (p.Leu340Ile) c.1333C>A (p.Leu445Ile) c.1288C>A (p.Leu430Ile) c.1195C>A (p.Leu399Ile) | |
9 | g.36223437G>A | CA464495398 | CLTA,GNE | c.1440C>T (p.Ile480=) c.1170C>T (p.Ile390=) c.1347C>T (p.Ile449=) c.485+19258G>A (n.485+19258G>A) c.1017C>T (p.Ile339=) c.1332C>T (p.Ile444=) c.1287C>T (p.Ile429=) c.1194C>T (p.Ile398=) | |
9 | g.36223437G>C | CA373427359 | CLTA,GNE | c.1440C>G (p.Ile480Met) c.1170C>G (p.Ile390Met) c.1347C>G (p.Ile449Met) c.485+19258G>C (n.485+19258G>C) c.1017C>G (p.Ile339Met) c.1332C>G (p.Ile444Met) c.1287C>G (p.Ile429Met) c.1194C>G (p.Ile398Met) | |
9 | g.36223437G>T | CA464495399 | CLTA,GNE | c.1440C>A (p.Ile480=) c.1170C>A (p.Ile390=) c.1347C>A (p.Ile449=) c.485+19258G>T (n.485+19258G>T) c.1017C>A (p.Ile339=) c.1332C>A (p.Ile444=) c.1287C>A (p.Ile429=) c.1194C>A (p.Ile398=) | |
9 | g.36223438A>C | CA373427365 | CLTA,GNE | c.1439T>G (p.Ile480Ser) c.1169T>G (p.Ile390Ser) c.1346T>G (p.Ile449Ser) c.485+19259A>C (n.485+19259A>C) c.1016T>G (p.Ile339Ser) c.1331T>G (p.Ile444Ser) c.1286T>G (p.Ile429Ser) c.1193T>G (p.Ile398Ser) | |
9 | g.36223438A>G | CA373427361 | CLTA,GNE | c.1439T>C (p.Ile480Thr) c.1169T>C (p.Ile390Thr) c.1346T>C (p.Ile449Thr) c.485+19259A>G (n.485+19259A>G) c.1016T>C (p.Ile339Thr) c.1331T>C (p.Ile444Thr) c.1286T>C (p.Ile429Thr) c.1193T>C (p.Ile398Thr) | |
9 | g.36223438A>T | CA373427363 | CLTA,GNE | c.1439T>A (p.Ile480Asn) c.1169T>A (p.Ile390Asn) c.1346T>A (p.Ile449Asn) c.485+19259A>T (n.485+19259A>T) c.1016T>A (p.Ile339Asn) c.1331T>A (p.Ile444Asn) c.1286T>A (p.Ile429Asn) c.1193T>A (p.Ile398Asn) | |
9 | g.36223439T>A | CA373427366 | CLTA,GNE | c.1438A>T (p.Ile480Phe) c.1168A>T (p.Ile390Phe) c.1345A>T (p.Ile449Phe) c.485+19260T>A (n.485+19260T>A) c.1015A>T (p.Ile339Phe) c.1330A>T (p.Ile444Phe) c.1285A>T (p.Ile429Phe) c.1192A>T (p.Ile398Phe) | |
9 | g.36223439T>C | CA5056500 | CLTA,GNE | c.1438A>G (p.Ile480Val) c.1168A>G (p.Ile390Val) c.1345A>G (p.Ile449Val) c.485+19260T>C (n.485+19260T>C) c.1015A>G (p.Ile339Val) c.1330A>G (p.Ile444Val) c.1285A>G (p.Ile429Val) c.1192A>G (p.Ile398Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36223439T>G | CA373427368 | CLTA,GNE | c.1438A>C (p.Ile480Leu) c.1168A>C (p.Ile390Leu) c.1345A>C (p.Ile449Leu) c.485+19260T>G (n.485+19260T>G) c.1015A>C (p.Ile339Leu) c.1330A>C (p.Ile444Leu) c.1285A>C (p.Ile429Leu) c.1192A>C (p.Ile398Leu) | |
9 | g.36223439T= | CA1846334447 | CLTA,GNE | c.1438A= (p.Ile480=) c.1168A= (p.Ile390=) c.1345A= (p.Ile449=) c.485+19260T= (n.485+19260T=) c.1015A= (p.Ile339=) c.1330A= (p.Ile444=) c.1285A= (p.Ile429=) c.1192A= (p.Ile398=) | |
9 | g.36223440T>A | CA373427369 | CLTA,GNE | c.1437A>T (p.Leu479Phe) c.1167A>T (p.Leu389Phe) c.1344A>T (p.Leu448Phe) c.485+19261T>A (n.485+19261T>A) c.1014A>T (p.Leu338Phe) c.1329A>T (p.Leu443Phe) c.1284A>T (p.Leu428Phe) c.1191A>T (p.Leu397Phe) | |
9 | g.36223440T>C | CA464495400 | CLTA,GNE | c.1437A>G (p.Leu479=) c.1167A>G (p.Leu389=) c.1344A>G (p.Leu448=) c.485+19261T>C (n.485+19261T>C) c.1014A>G (p.Leu338=) c.1329A>G (p.Leu443=) c.1284A>G (p.Leu428=) c.1191A>G (p.Leu397=) | |
9 | g.36223440T>G | CA373427371 | CLTA,GNE | c.1437A>C (p.Leu479Phe) c.1167A>C (p.Leu389Phe) c.1344A>C (p.Leu448Phe) c.485+19261T>G (n.485+19261T>G) c.1014A>C (p.Leu338Phe) c.1329A>C (p.Leu443Phe) c.1284A>C (p.Leu428Phe) c.1191A>C (p.Leu397Phe) | |
9 | g.36223441A>C | CA373427373 | CLTA,GNE | c.1436T>G (p.Leu479Ter) c.1166T>G (p.Leu389Ter) c.1343T>G (p.Leu448Ter) c.485+19262A>C (n.485+19262A>C) c.1013T>G (p.Leu338Ter) c.1328T>G (p.Leu443Ter) c.1283T>G (p.Leu428Ter) c.1190T>G (p.Leu397Ter) | |
9 | g.36223441A>G | CA373427375 | CLTA,GNE | c.1436T>C (p.Leu479Ser) c.1166T>C (p.Leu389Ser) c.1343T>C (p.Leu448Ser) c.485+19262A>G (n.485+19262A>G) c.1013T>C (p.Leu338Ser) c.1328T>C (p.Leu443Ser) c.1283T>C (p.Leu428Ser) c.1190T>C (p.Leu397Ser) | |
9 | g.36223441A>T | CA373427374 | CLTA,GNE | c.1436T>A (p.Leu479Ter) c.1166T>A (p.Leu389Ter) c.1343T>A (p.Leu448Ter) c.485+19262A>T (n.485+19262A>T) c.1013T>A (p.Leu338Ter) c.1328T>A (p.Leu443Ter) c.1283T>A (p.Leu428Ter) c.1190T>A (p.Leu397Ter) | |
9 | g.36223442A>C | CA373427377 | CLTA,GNE | c.1435T>G (p.Leu479Val) c.1165T>G (p.Leu389Val) c.1342T>G (p.Leu448Val) c.485+19263A>C (n.485+19263A>C) c.1012T>G (p.Leu338Val) c.1327T>G (p.Leu443Val) c.1282T>G (p.Leu428Val) c.1189T>G (p.Leu397Val) | |
9 | g.36223442A>G | CA464495401 | CLTA,GNE | c.1435T>C (p.Leu479=) c.1165T>C (p.Leu389=) c.1342T>C (p.Leu448=) c.485+19263A>G (n.485+19263A>G) c.1012T>C (p.Leu338=) c.1327T>C (p.Leu443=) c.1282T>C (p.Leu428=) c.1189T>C (p.Leu397=) | |
9 | g.36223442A>T | CA373427378 | CLTA,GNE | c.1435T>A (p.Leu479Ile) c.1165T>A (p.Leu389Ile) c.1342T>A (p.Leu448Ile) c.485+19263A>T (n.485+19263A>T) c.1012T>A (p.Leu338Ile) c.1327T>A (p.Leu443Ile) c.1282T>A (p.Leu428Ile) c.1189T>A (p.Leu397Ile) | |
9 | g.36223443A>C | CA373427380 | CLTA,GNE | c.1434T>G (p.Asn478Lys) c.1164T>G (p.Asn388Lys) c.1341T>G (p.Asn447Lys) c.485+19264A>C (n.485+19264A>C) c.1011T>G (p.Asn337Lys) c.1326T>G (p.Asn442Lys) c.1281T>G (p.Asn427Lys) c.1188T>G (p.Asn396Lys) | |
9 | g.36223443A>G | CA464495402 | CLTA,GNE | c.1434T>C (p.Asn478=) c.1164T>C (p.Asn388=) c.1341T>C (p.Asn447=) c.485+19264A>G (n.485+19264A>G) c.1011T>C (p.Asn337=) c.1326T>C (p.Asn442=) c.1281T>C (p.Asn427=) c.1188T>C (p.Asn396=) | |
9 | g.36223443A>T | CA373427382 | CLTA,GNE | c.1434T>A (p.Asn478Lys) c.1164T>A (p.Asn388Lys) c.1341T>A (p.Asn447Lys) c.485+19264A>T (n.485+19264A>T) c.1011T>A (p.Asn337Lys) c.1326T>A (p.Asn442Lys) c.1281T>A (p.Asn427Lys) c.1188T>A (p.Asn396Lys) | gnomAD v4 |
9 | g.36223444T>A | CA373427383 | CLTA,GNE | c.1433A>T (p.Asn478Ile) c.1163A>T (p.Asn388Ile) c.1340A>T (p.Asn447Ile) c.485+19265T>A (n.485+19265T>A) c.1010A>T (p.Asn337Ile) c.1325A>T (p.Asn442Ile) c.1280A>T (p.Asn427Ile) c.1187A>T (p.Asn396Ile) | |
9 | g.36223444T>C | CA373427385 | CLTA,GNE | c.1433A>G (p.Asn478Ser) c.1163A>G (p.Asn388Ser) c.1340A>G (p.Asn447Ser) c.485+19265T>C (n.485+19265T>C) c.1010A>G (p.Asn337Ser) c.1325A>G (p.Asn442Ser) c.1280A>G (p.Asn427Ser) c.1187A>G (p.Asn396Ser) | |
9 | g.36223444T>G | CA373427386 | CLTA,GNE | c.1433A>C (p.Asn478Thr) c.1163A>C (p.Asn388Thr) c.1340A>C (p.Asn447Thr) c.485+19265T>G (n.485+19265T>G) c.1010A>C (p.Asn337Thr) c.1325A>C (p.Asn442Thr) c.1280A>C (p.Asn427Thr) c.1187A>C (p.Asn396Thr) | |
9 | g.36223445T>A | CA373427393 | CLTA,GNE | c.1432A>T (p.Asn478Tyr) c.1162A>T (p.Asn388Tyr) c.1339A>T (p.Asn447Tyr) c.485+19266T>A (n.485+19266T>A) c.1009A>T (p.Asn337Tyr) c.1324A>T (p.Asn442Tyr) c.1279A>T (p.Asn427Tyr) c.1186A>T (p.Asn396Tyr) | |
9 | g.36223445T>C | CA373427395 | CLTA,GNE | c.1432A>G (p.Asn478Asp) c.1162A>G (p.Asn388Asp) c.1339A>G (p.Asn447Asp) c.485+19266T>C (n.485+19266T>C) c.1009A>G (p.Asn337Asp) c.1324A>G (p.Asn442Asp) c.1279A>G (p.Asn427Asp) c.1186A>G (p.Asn396Asp) | |
9 | g.36223445T>G | CA373427397 | CLTA,GNE | c.1432A>C (p.Asn478His) c.1162A>C (p.Asn388His) c.1339A>C (p.Asn447His) c.485+19266T>G (n.485+19266T>G) c.1009A>C (p.Asn337His) c.1324A>C (p.Asn442His) c.1279A>C (p.Asn427His) c.1186A>C (p.Asn396His) | |
9 | g.36223446A>C | CA373427398 | CLTA,GNE | c.1431T>G (p.Ile477Met) c.1161T>G (p.Ile387Met) c.1338T>G (p.Ile446Met) c.485+19267A>C (n.485+19267A>C) c.1008T>G (p.Ile336Met) c.1323T>G (p.Ile441Met) c.1278T>G (p.Ile426Met) c.1185T>G (p.Ile395Met) | |
9 | g.36223446A>G | CA464495403 | CLTA,GNE | c.1431T>C (p.Ile477=) c.1161T>C (p.Ile387=) c.1338T>C (p.Ile446=) c.485+19267A>G (n.485+19267A>G) c.1008T>C (p.Ile336=) c.1323T>C (p.Ile441=) c.1278T>C (p.Ile426=) c.1185T>C (p.Ile395=) | |
9 | g.36223446A>T | CA464495404 | CLTA,GNE | c.1431T>A (p.Ile477=) c.1161T>A (p.Ile387=) c.1338T>A (p.Ile446=) c.485+19267A>T (n.485+19267A>T) c.1008T>A (p.Ile336=) c.1323T>A (p.Ile441=) c.1278T>A (p.Ile426=) c.1185T>A (p.Ile395=) | |
9 | g.36223447A>C | CA373427402 | CLTA,GNE | c.1430T>G (p.Ile477Ser) c.1160T>G (p.Ile387Ser) c.1337T>G (p.Ile446Ser) c.485+19268A>C (n.485+19268A>C) c.1007T>G (p.Ile336Ser) c.1322T>G (p.Ile441Ser) c.1277T>G (p.Ile426Ser) c.1184T>G (p.Ile395Ser) | |
9 | g.36223447A>G | CA373427399 | CLTA,GNE | c.1430T>C (p.Ile477Thr) c.1160T>C (p.Ile387Thr) c.1337T>C (p.Ile446Thr) c.485+19268A>G (n.485+19268A>G) c.1007T>C (p.Ile336Thr) c.1322T>C (p.Ile441Thr) c.1277T>C (p.Ile426Thr) c.1184T>C (p.Ile395Thr) | |
9 | g.36223447A>T | CA373427401 | CLTA,GNE | c.1430T>A (p.Ile477Asn) c.1160T>A (p.Ile387Asn) c.1337T>A (p.Ile446Asn) c.485+19268A>T (n.485+19268A>T) c.1007T>A (p.Ile336Asn) c.1322T>A (p.Ile441Asn) c.1277T>A (p.Ile426Asn) c.1184T>A (p.Ile395Asn) | |
9 | g.36223448T>A | CA373427404 | CLTA,GNE | c.1429A>T (p.Ile477Phe) c.1159A>T (p.Ile387Phe) c.1336A>T (p.Ile446Phe) c.485+19269T>A (n.485+19269T>A) c.1006A>T (p.Ile336Phe) c.1321A>T (p.Ile441Phe) c.1276A>T (p.Ile426Phe) c.1183A>T (p.Ile395Phe) | |
9 | g.36223448T>C | CA373427407 | CLTA,GNE | c.1429A>G (p.Ile477Val) c.1159A>G (p.Ile387Val) c.1336A>G (p.Ile446Val) c.485+19269T>C (n.485+19269T>C) c.1006A>G (p.Ile336Val) c.1321A>G (p.Ile441Val) c.1276A>G (p.Ile426Val) c.1183A>G (p.Ile395Val) | |
9 | g.36223448T>G | CA373427405 | CLTA,GNE | c.1429A>C (p.Ile477Leu) c.1159A>C (p.Ile387Leu) c.1336A>C (p.Ile446Leu) c.485+19269T>G (n.485+19269T>G) c.1006A>C (p.Ile336Leu) c.1321A>C (p.Ile441Leu) c.1276A>C (p.Ile426Leu) c.1183A>C (p.Ile395Leu) | |
9 | g.36223449C>A | CA373427408 | CLTA,GNE | c.1428G>T (p.Arg476Ser) c.1158G>T (p.Arg386Ser) c.1335G>T (p.Arg445Ser) c.485+19270C>A (n.485+19270C>A) c.1005G>T (p.Arg335Ser) c.1320G>T (p.Arg440Ser) c.1275G>T (p.Arg425Ser) c.1182G>T (p.Arg394Ser) | |
9 | g.36223449C>G | CA373427409 | CLTA,GNE | c.1428G>C (p.Arg476Ser) c.1158G>C (p.Arg386Ser) c.1335G>C (p.Arg445Ser) c.485+19270C>G (n.485+19270C>G) c.1005G>C (p.Arg335Ser) c.1320G>C (p.Arg440Ser) c.1275G>C (p.Arg425Ser) c.1182G>C (p.Arg394Ser) | COSMIC COSMIC COSMIC |
9 | g.36223449C>T | CA464495405 | CLTA,GNE | c.1428G>A (p.Arg476=) c.1158G>A (p.Arg386=) c.1335G>A (p.Arg445=) c.485+19270C>T (n.485+19270C>T) c.1005G>A (p.Arg335=) c.1320G>A (p.Arg440=) c.1275G>A (p.Arg425=) c.1182G>A (p.Arg394=) | gnomAD v4 |
9 | g.36223450C>A | CA373427411 | CLTA,GNE | c.1427G>T (p.Arg476Met) c.1157G>T (p.Arg386Met) c.1334G>T (p.Arg445Met) c.485+19271C>A (n.485+19271C>A) c.1004G>T (p.Arg335Met) c.1319G>T (p.Arg440Met) c.1274G>T (p.Arg425Met) c.1181G>T (p.Arg394Met) | |
9 | g.36223450C= | CA1846334451 | CLTA,GNE | c.1427G= (p.Arg476=) c.1157G= (p.Arg386=) c.1334G= (p.Arg445=) c.485+19271C= (n.485+19271C=) c.1004G= (p.Arg335=) c.1319G= (p.Arg440=) c.1274G= (p.Arg425=) c.1181G= (p.Arg394=) | |
9 | g.36223450C>G | CA5056501 | CLTA,GNE | c.1427G>C (p.Arg476Thr) c.1157G>C (p.Arg386Thr) c.1334G>C (p.Arg445Thr) c.485+19271C>G (n.485+19271C>G) c.1004G>C (p.Arg335Thr) c.1319G>C (p.Arg440Thr) c.1274G>C (p.Arg425Thr) c.1181G>C (p.Arg394Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36223450C>T | CA192843981 | CLTA,GNE | c.1427G>A (p.Arg476Lys) c.1157G>A (p.Arg386Lys) c.1334G>A (p.Arg445Lys) c.485+19271C>T (n.485+19271C>T) c.1004G>A (p.Arg335Lys) c.1319G>A (p.Arg440Lys) c.1274G>A (p.Arg425Lys) c.1181G>A (p.Arg394Lys) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.36223451T>A | CA373427414 | CLTA,GNE | c.1426A>T (p.Arg476Trp) c.1156A>T (p.Arg386Trp) c.1333A>T (p.Arg445Trp) c.485+19272T>A (n.485+19272T>A) c.1003A>T (p.Arg335Trp) c.1318A>T (p.Arg440Trp) c.1273A>T (p.Arg425Trp) c.1180A>T (p.Arg394Trp) | |
9 | g.36223451T>C | CA373427415 | CLTA,GNE | c.1426A>G (p.Arg476Gly) c.1156A>G (p.Arg386Gly) c.1333A>G (p.Arg445Gly) c.485+19272T>C (n.485+19272T>C) c.1003A>G (p.Arg335Gly) c.1318A>G (p.Arg440Gly) c.1273A>G (p.Arg425Gly) c.1180A>G (p.Arg394Gly) | gnomAD v4 |
9 | g.36223451T>G | CA464495406 | CLTA,GNE | c.1426A>C (p.Arg476=) c.1156A>C (p.Arg386=) c.1333A>C (p.Arg445=) c.485+19272T>G (n.485+19272T>G) c.1003A>C (p.Arg335=) c.1318A>C (p.Arg440=) c.1273A>C (p.Arg425=) c.1180A>C (p.Arg394=) | |
9 | g.36223451_36223452insA | CA2689945895 | CLTA,GNE | c.1425_1426insT (p.Arg476Ter) c.1155_1156insT (p.Arg386Ter) c.1332_1333insT (p.Arg445Ter) c.485+19272_485+19273insA (n.485+19272_485+19273insA) c.1002_1003insT (p.Arg335Ter) c.1317_1318insT (p.Arg440Ter) c.1272_1273insT (p.Arg425Ter) c.1179_1180insT (p.Arg394Ter) | gnomAD v4 |
9 | g.36223452C>A | CA373427417 | CLTA,GNE | c.1425G>T (p.Glu475Asp) c.1155G>T (p.Glu385Asp) c.1332G>T (p.Glu444Asp) c.485+19273C>A (n.485+19273C>A) c.1002G>T (p.Glu334Asp) c.1317G>T (p.Glu439Asp) c.1272G>T (p.Glu424Asp) c.1179G>T (p.Glu393Asp) | |
9 | g.36223452C= | CA1846334455 | CLTA,GNE | c.1425G= (p.Glu475=) c.1155G= (p.Glu385=) c.1332G= (p.Glu444=) c.485+19273C= (n.485+19273C=) c.1002G= (p.Glu334=) c.1317G= (p.Glu439=) c.1272G= (p.Glu424=) c.1179G= (p.Glu393=) | |
9 | g.36223452C>G | CA373427419 | CLTA,GNE | c.1425G>C (p.Glu475Asp) c.1155G>C (p.Glu385Asp) c.1332G>C (p.Glu444Asp) c.485+19273C>G (n.485+19273C>G) c.1002G>C (p.Glu334Asp) c.1317G>C (p.Glu439Asp) c.1272G>C (p.Glu424Asp) c.1179G>C (p.Glu393Asp) | ClinVar dbSNP |
9 | g.36223452C>T | CA464495407 | CLTA,GNE | c.1425G>A (p.Glu475=) c.1155G>A (p.Glu385=) c.1332G>A (p.Glu444=) c.485+19273C>T (n.485+19273C>T) c.1002G>A (p.Glu334=) c.1317G>A (p.Glu439=) c.1272G>A (p.Glu424=) c.1179G>A (p.Glu393=) | |
9 | g.36223452_36223457del | CA2689945896 | CLTA,GNE | c.1420_1425del (p.Glu474_Glu475del) c.1150_1155del (p.Glu384_Glu385del) c.1327_1332del (p.Glu443_Glu444del) c.485+19273_485+19278del (n.485+19273_485+19278del) c.997_1002del (p.Glu333_Glu334del) c.1312_1317del (p.Glu438_Glu439del) c.1267_1272del (p.Glu423_Glu424del) c.1174_1179del (p.Glu392_Glu393del) | gnomAD v4 |
9 | g.36223453T>A | CA373427420 | CLTA,GNE | c.1424A>T (p.Glu475Val) c.1154A>T (p.Glu385Val) c.1331A>T (p.Glu444Val) c.485+19274T>A (n.485+19274T>A) c.1001A>T (p.Glu334Val) c.1316A>T (p.Glu439Val) c.1271A>T (p.Glu424Val) c.1178A>T (p.Glu393Val) | |
9 | g.36223453T>C | CA373427422 | CLTA,GNE | c.1424A>G (p.Glu475Gly) c.1154A>G (p.Glu385Gly) c.1331A>G (p.Glu444Gly) c.485+19274T>C (n.485+19274T>C) c.1001A>G (p.Glu334Gly) c.1316A>G (p.Glu439Gly) c.1271A>G (p.Glu424Gly) c.1178A>G (p.Glu393Gly) | dbSNP |
9 | g.36223453T>G | CA373427424 | CLTA,GNE | c.1424A>C (p.Glu475Ala) c.1154A>C (p.Glu385Ala) c.1331A>C (p.Glu444Ala) c.485+19274T>G (n.485+19274T>G) c.1001A>C (p.Glu334Ala) c.1316A>C (p.Glu439Ala) c.1271A>C (p.Glu424Ala) c.1178A>C (p.Glu393Ala) | |
9 | g.36223453T= | CA1846334486 | CLTA,GNE | c.1424A= (p.Glu475=) c.1154A= (p.Glu385=) c.1331A= (p.Glu444=) c.485+19274T= (n.485+19274T=) c.1001A= (p.Glu334=) c.1316A= (p.Glu439=) c.1271A= (p.Glu424=) c.1178A= (p.Glu393=) | |
9 | g.36223454C>A | CA373427426 | CLTA,GNE | c.1423G>T (p.Glu475Ter) c.1153G>T (p.Glu385Ter) c.1330G>T (p.Glu444Ter) c.485+19275C>A (n.485+19275C>A) c.1000G>T (p.Glu334Ter) c.1315G>T (p.Glu439Ter) c.1270G>T (p.Glu424Ter) c.1177G>T (p.Glu393Ter) | |
9 | g.36223454C>G | CA373427428 | CLTA,GNE | c.1423G>C (p.Glu475Gln) c.1153G>C (p.Glu385Gln) c.1330G>C (p.Glu444Gln) c.485+19275C>G (n.485+19275C>G) c.1000G>C (p.Glu334Gln) c.1315G>C (p.Glu439Gln) c.1270G>C (p.Glu424Gln) c.1177G>C (p.Glu393Gln) | |
9 | g.36223454C>T | CA373427427 | CLTA,GNE | c.1423G>A (p.Glu475Lys) c.1153G>A (p.Glu385Lys) c.1330G>A (p.Glu444Lys) c.485+19275C>T (n.485+19275C>T) c.1000G>A (p.Glu334Lys) c.1315G>A (p.Glu439Lys) c.1270G>A (p.Glu424Lys) c.1177G>A (p.Glu393Lys) | |
9 | g.36223455T>A | CA373427429 | CLTA,GNE | c.1422A>T (p.Glu474Asp) c.1152A>T (p.Glu384Asp) c.1329A>T (p.Glu443Asp) c.485+19276T>A (n.485+19276T>A) c.999A>T (p.Glu333Asp) c.1314A>T (p.Glu438Asp) c.1269A>T (p.Glu423Asp) c.1176A>T (p.Glu392Asp) | |
9 | g.36223455T>C | CA464495408 | CLTA,GNE | c.1422A>G (p.Glu474=) c.1152A>G (p.Glu384=) c.1329A>G (p.Glu443=) c.485+19276T>C (n.485+19276T>C) c.999A>G (p.Glu333=) c.1314A>G (p.Glu438=) c.1269A>G (p.Glu423=) c.1176A>G (p.Glu392=) | |
9 | g.36223455T>G | CA373427430 | CLTA,GNE | c.1422A>C (p.Glu474Asp) c.1152A>C (p.Glu384Asp) c.1329A>C (p.Glu443Asp) c.485+19276T>G (n.485+19276T>G) c.999A>C (p.Glu333Asp) c.1314A>C (p.Glu438Asp) c.1269A>C (p.Glu423Asp) c.1176A>C (p.Glu392Asp) | dbSNP gnomAD v2 |
9 | g.36223455T= | CA1846334491 | CLTA,GNE | c.1422A= (p.Glu474=) c.1152A= (p.Glu384=) c.1329A= (p.Glu443=) c.485+19276T= (n.485+19276T=) c.999A= (p.Glu333=) c.1314A= (p.Glu438=) c.1269A= (p.Glu423=) c.1176A= (p.Glu392=) | |
9 | g.36223456T>A | CA373427432 | CLTA,GNE | c.1421A>T (p.Glu474Val) c.1151A>T (p.Glu384Val) c.1328A>T (p.Glu443Val) c.485+19277T>A (n.485+19277T>A) c.998A>T (p.Glu333Val) c.1313A>T (p.Glu438Val) c.1268A>T (p.Glu423Val) c.1175A>T (p.Glu392Val) | |
9 | g.36223456T>C | CA373427435 | CLTA,GNE | c.1421A>G (p.Glu474Gly) c.1151A>G (p.Glu384Gly) c.1328A>G (p.Glu443Gly) c.485+19277T>C (n.485+19277T>C) c.998A>G (p.Glu333Gly) c.1313A>G (p.Glu438Gly) c.1268A>G (p.Glu423Gly) c.1175A>G (p.Glu392Gly) | |
9 | g.36223456T>G | CA373427437 | CLTA,GNE | c.1421A>C (p.Glu474Ala) c.1151A>C (p.Glu384Ala) c.1328A>C (p.Glu443Ala) c.485+19277T>G (n.485+19277T>G) c.998A>C (p.Glu333Ala) c.1313A>C (p.Glu438Ala) c.1268A>C (p.Glu423Ala) c.1175A>C (p.Glu392Ala) | |
9 | g.36223457C>A | CA373427438 | CLTA,GNE | c.1420G>T (p.Glu474Ter) c.1150G>T (p.Glu384Ter) c.1327G>T (p.Glu443Ter) c.485+19278C>A (n.485+19278C>A) c.997G>T (p.Glu333Ter) c.1312G>T (p.Glu438Ter) c.1267G>T (p.Glu423Ter) c.1174G>T (p.Glu392Ter) | |
9 | g.36223457C= | CA1846334500 | CLTA,GNE | c.1420G= (p.Glu474=) c.1150G= (p.Glu384=) c.1327G= (p.Glu443=) c.485+19278C= (n.485+19278C=) c.997G= (p.Glu333=) c.1312G= (p.Glu438=) c.1267G= (p.Glu423=) c.1174G= (p.Glu392=) | |
9 | g.36223457C>G | CA373427439 | CLTA,GNE | c.1420G>C (p.Glu474Gln) c.1150G>C (p.Glu384Gln) c.1327G>C (p.Glu443Gln) c.485+19278C>G (n.485+19278C>G) c.997G>C (p.Glu333Gln) c.1312G>C (p.Glu438Gln) c.1267G>C (p.Glu423Gln) c.1174G>C (p.Glu392Gln) | |
9 | g.36223457C>T | CA373427440 | CLTA,GNE | c.1420G>A (p.Glu474Lys) c.1150G>A (p.Glu384Lys) c.1327G>A (p.Glu443Lys) c.485+19278C>T (n.485+19278C>T) c.997G>A (p.Glu333Lys) c.1312G>A (p.Glu438Lys) c.1267G>A (p.Glu423Lys) c.1174G>A (p.Glu392Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36223458A>C | CA373427442 | CLTA,GNE | c.1419T>G (p.Tyr473Ter) c.1149T>G (p.Tyr383Ter) c.1326T>G (p.Tyr442Ter) c.485+19279A>C (n.485+19279A>C) c.996T>G (p.Tyr332Ter) c.1311T>G (p.Tyr437Ter) c.1266T>G (p.Tyr422Ter) c.1173T>G (p.Tyr391Ter) | |
9 | g.36223458A>G | CA464495409 | CLTA,GNE | c.1419T>C (p.Tyr473=) c.1149T>C (p.Tyr383=) c.1326T>C (p.Tyr442=) c.485+19279A>G (n.485+19279A>G) c.996T>C (p.Tyr332=) c.1311T>C (p.Tyr437=) c.1266T>C (p.Tyr422=) c.1173T>C (p.Tyr391=) | ClinVar |
9 | g.36223458A>T | CA373427444 | CLTA,GNE | c.1419T>A (p.Tyr473Ter) c.1149T>A (p.Tyr383Ter) c.1326T>A (p.Tyr442Ter) c.485+19279A>T (n.485+19279A>T) c.996T>A (p.Tyr332Ter) c.1311T>A (p.Tyr437Ter) c.1266T>A (p.Tyr422Ter) c.1173T>A (p.Tyr391Ter) | |
9 | g.36223459T>A | CA373427449 | CLTA,GNE | c.1418A>T (p.Tyr473Phe) c.1148A>T (p.Tyr383Phe) c.1325A>T (p.Tyr442Phe) c.485+19280T>A (n.485+19280T>A) c.995A>T (p.Tyr332Phe) c.1310A>T (p.Tyr437Phe) c.1265A>T (p.Tyr422Phe) c.1172A>T (p.Tyr391Phe) | |
9 | g.36223459T>C | CA373427447 | CLTA,GNE | c.1418A>G (p.Tyr473Cys) c.1148A>G (p.Tyr383Cys) c.1325A>G (p.Tyr442Cys) c.485+19280T>C (n.485+19280T>C) c.995A>G (p.Tyr332Cys) c.1310A>G (p.Tyr437Cys) c.1265A>G (p.Tyr422Cys) c.1172A>G (p.Tyr391Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36223459T>G | CA373427445 | CLTA,GNE | c.1418A>C (p.Tyr473Ser) c.1148A>C (p.Tyr383Ser) c.1325A>C (p.Tyr442Ser) c.485+19280T>G (n.485+19280T>G) c.995A>C (p.Tyr332Ser) c.1310A>C (p.Tyr437Ser) c.1265A>C (p.Tyr422Ser) c.1172A>C (p.Tyr391Ser) | |
9 | g.36223459T= | CA1846334504 | CLTA,GNE | c.1418A= (p.Tyr473=) c.1148A= (p.Tyr383=) c.1325A= (p.Tyr442=) c.485+19280T= (n.485+19280T=) c.995A= (p.Tyr332=) c.1310A= (p.Tyr437=) c.1265A= (p.Tyr422=) c.1172A= (p.Tyr391=) | |
9 | g.36223460A>C | CA373427453 | CLTA,GNE | c.1417T>G (p.Tyr473Asp) c.1147T>G (p.Tyr383Asp) c.1324T>G (p.Tyr442Asp) c.485+19281A>C (n.485+19281A>C) c.994T>G (p.Tyr332Asp) c.1309T>G (p.Tyr437Asp) c.1264T>G (p.Tyr422Asp) c.1171T>G (p.Tyr391Asp) | |
9 | g.36223460A>G | CA373427451 | CLTA,GNE | c.1417T>C (p.Tyr473His) c.1147T>C (p.Tyr383His) c.1324T>C (p.Tyr442His) c.485+19281A>G (n.485+19281A>G) c.994T>C (p.Tyr332His) c.1309T>C (p.Tyr437His) c.1264T>C (p.Tyr422His) c.1171T>C (p.Tyr391His) | |
9 | g.36223460A>T | CA373427452 | CLTA,GNE | c.1417T>A (p.Tyr473Asn) c.1147T>A (p.Tyr383Asn) c.1324T>A (p.Tyr442Asn) c.485+19281A>T (n.485+19281A>T) c.994T>A (p.Tyr332Asn) c.1309T>A (p.Tyr437Asn) c.1264T>A (p.Tyr422Asn) c.1171T>A (p.Tyr391Asn) | |
9 | g.36223461G>A | CA464495410 | CLTA,GNE | c.1416C>T (p.Thr472=) c.1146C>T (p.Thr382=) c.1323C>T (p.Thr441=) c.485+19282G>A (n.485+19282G>A) c.993C>T (p.Thr331=) c.1308C>T (p.Thr436=) c.1263C>T (p.Thr421=) c.1170C>T (p.Thr390=) | ClinVar gnomAD v4 |
9 | g.36223461G>C | CA464495411 | CLTA,GNE | c.1416C>G (p.Thr472=) c.1146C>G (p.Thr382=) c.1323C>G (p.Thr441=) c.485+19282G>C (n.485+19282G>C) c.993C>G (p.Thr331=) c.1308C>G (p.Thr436=) c.1263C>G (p.Thr421=) c.1170C>G (p.Thr390=) | |
9 | g.36223461G>T | CA464495412 | CLTA,GNE | c.1416C>A (p.Thr472=) c.1146C>A (p.Thr382=) c.1323C>A (p.Thr441=) c.485+19282G>T (n.485+19282G>T) c.993C>A (p.Thr331=) c.1308C>A (p.Thr436=) c.1263C>A (p.Thr421=) c.1170C>A (p.Thr390=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
9 | g.36223462G>A | CA373427455 | CLTA,GNE | c.1415C>T (p.Thr472Ile) c.1145C>T (p.Thr382Ile) c.1322C>T (p.Thr441Ile) c.485+19283G>A (n.485+19283G>A) c.992C>T (p.Thr331Ile) c.1307C>T (p.Thr436Ile) c.1262C>T (p.Thr421Ile) c.1169C>T (p.Thr390Ile) | |
9 | g.36223462G>C | CA373427457 | CLTA,GNE | c.1415C>G (p.Thr472Ser) c.1145C>G (p.Thr382Ser) c.1322C>G (p.Thr441Ser) c.485+19283G>C (n.485+19283G>C) c.992C>G (p.Thr331Ser) c.1307C>G (p.Thr436Ser) c.1262C>G (p.Thr421Ser) c.1169C>G (p.Thr390Ser) | gnomAD v4 |
9 | g.36223462G>T | CA373427458 | CLTA,GNE | c.1415C>A (p.Thr472Asn) c.1145C>A (p.Thr382Asn) c.1322C>A (p.Thr441Asn) c.485+19283G>T (n.485+19283G>T) c.992C>A (p.Thr331Asn) c.1307C>A (p.Thr436Asn) c.1262C>A (p.Thr421Asn) c.1169C>A (p.Thr390Asn) | |
9 | g.36223463T>A | CA373427460 | CLTA,GNE | c.1414A>T (p.Thr472Ser) c.1144A>T (p.Thr382Ser) c.1321A>T (p.Thr441Ser) c.485+19284T>A (n.485+19284T>A) c.991A>T (p.Thr331Ser) c.1306A>T (p.Thr436Ser) c.1261A>T (p.Thr421Ser) c.1168A>T (p.Thr390Ser) | |
9 | g.36223463T>C | CA373427461 | CLTA,GNE | c.1414A>G (p.Thr472Ala) c.1144A>G (p.Thr382Ala) c.1321A>G (p.Thr441Ala) c.485+19284T>C (n.485+19284T>C) c.991A>G (p.Thr331Ala) c.1306A>G (p.Thr436Ala) c.1261A>G (p.Thr421Ala) c.1168A>G (p.Thr390Ala) | |
9 | g.36223463T>G | CA373427462 | CLTA,GNE | c.1414A>C (p.Thr472Pro) c.1144A>C (p.Thr382Pro) c.1321A>C (p.Thr441Pro) c.485+19284T>G (n.485+19284T>G) c.991A>C (p.Thr331Pro) c.1306A>C (p.Thr436Pro) c.1261A>C (p.Thr421Pro) c.1168A>C (p.Thr390Pro) | |
9 | g.36223464T>A | CA373427463 | CLTA,GNE | c.1413A>T (p.Lys471Asn) c.1143A>T (p.Lys381Asn) c.1320A>T (p.Lys440Asn) c.485+19285T>A (n.485+19285T>A) c.990A>T (p.Lys330Asn) c.1305A>T (p.Lys435Asn) c.1260A>T (p.Lys420Asn) c.1167A>T (p.Lys389Asn) | |
9 | g.36223464T>C | CA464495413 | CLTA,GNE | c.1413A>G (p.Lys471=) c.1143A>G (p.Lys381=) c.1320A>G (p.Lys440=) c.485+19285T>C (n.485+19285T>C) c.990A>G (p.Lys330=) c.1305A>G (p.Lys435=) c.1260A>G (p.Lys420=) c.1167A>G (p.Lys389=) | |
9 | g.36223464T>G | CA373427464 | CLTA,GNE | c.1413A>C (p.Lys471Asn) c.1143A>C (p.Lys381Asn) c.1320A>C (p.Lys440Asn) c.485+19285T>G (n.485+19285T>G) c.990A>C (p.Lys330Asn) c.1305A>C (p.Lys435Asn) c.1260A>C (p.Lys420Asn) c.1167A>C (p.Lys389Asn) | dbSNP COSMIC COSMIC COSMIC |
9 | g.36223464T= | CA1846334508 | CLTA,GNE | c.1413A= (p.Lys471=) c.1143A= (p.Lys381=) c.1320A= (p.Lys440=) c.485+19285T= (n.485+19285T=) c.990A= (p.Lys330=) c.1305A= (p.Lys435=) c.1260A= (p.Lys420=) c.1167A= (p.Lys389=) | |
9 | g.36223465T>A | CA373427466 | CLTA,GNE | c.1412A>T (p.Lys471Ile) c.1142A>T (p.Lys381Ile) c.1319A>T (p.Lys440Ile) c.485+19286T>A (n.485+19286T>A) c.989A>T (p.Lys330Ile) c.1304A>T (p.Lys435Ile) c.1259A>T (p.Lys420Ile) c.1166A>T (p.Lys389Ile) | |
9 | g.36223465T>C | CA373427468 | CLTA,GNE | c.1412A>G (p.Lys471Arg) c.1142A>G (p.Lys381Arg) c.1319A>G (p.Lys440Arg) c.485+19286T>C (n.485+19286T>C) c.989A>G (p.Lys330Arg) c.1304A>G (p.Lys435Arg) c.1259A>G (p.Lys420Arg) c.1166A>G (p.Lys389Arg) | |
9 | g.36223465T>G | CA5056502 | CLTA,GNE | c.1412A>C (p.Lys471Thr) c.1142A>C (p.Lys381Thr) c.1319A>C (p.Lys440Thr) c.485+19286T>G (n.485+19286T>G) c.989A>C (p.Lys330Thr) c.1304A>C (p.Lys435Thr) c.1259A>C (p.Lys420Thr) c.1166A>C (p.Lys389Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36223465T= | CA1846334516 | CLTA,GNE | c.1412A= (p.Lys471=) c.1142A= (p.Lys381=) c.1319A= (p.Lys440=) c.485+19286T= (n.485+19286T=) c.989A= (p.Lys330=) c.1304A= (p.Lys435=) c.1259A= (p.Lys420=) c.1166A= (p.Lys389=) | |
9 | g.36223466T>A | CA373427476 | CLTA,GNE | c.1411A>T (p.Lys471Ter) c.1141A>T (p.Lys381Ter) c.1318A>T (p.Lys440Ter) c.485+19287T>A (n.485+19287T>A) c.988A>T (p.Lys330Ter) c.1303A>T (p.Lys435Ter) c.1258A>T (p.Lys420Ter) c.1165A>T (p.Lys389Ter) | |
9 | g.36223466T>C | CA373427473 | CLTA,GNE | c.1411A>G (p.Lys471Glu) c.1141A>G (p.Lys381Glu) c.1318A>G (p.Lys440Glu) c.485+19287T>C (n.485+19287T>C) c.988A>G (p.Lys330Glu) c.1303A>G (p.Lys435Glu) c.1258A>G (p.Lys420Glu) c.1165A>G (p.Lys389Glu) | |
9 | g.36223466T>G | CA373427474 | CLTA,GNE | c.1411A>C (p.Lys471Gln) c.1141A>C (p.Lys381Gln) c.1318A>C (p.Lys440Gln) c.485+19287T>G (n.485+19287T>G) c.988A>C (p.Lys330Gln) c.1303A>C (p.Lys435Gln) c.1258A>C (p.Lys420Gln) c.1165A>C (p.Lys389Gln) | |
9 | g.36223467A= | CA1846334522 | CLTA,GNE | c.1410T= (p.Pro470=) c.1140T= (p.Pro380=) c.1317T= (p.Pro439=) c.485+19288A= (n.485+19288A=) c.987T= (p.Pro329=) c.1302T= (p.Pro434=) c.1257T= (p.Pro419=) c.1164T= (p.Pro388=) | |
9 | g.36223467A>C | CA464495414 | CLTA,GNE | c.1410T>G (p.Pro470=) c.1140T>G (p.Pro380=) c.1317T>G (p.Pro439=) c.485+19288A>C (n.485+19288A>C) c.987T>G (p.Pro329=) c.1302T>G (p.Pro434=) c.1257T>G (p.Pro419=) c.1164T>G (p.Pro388=) | |
9 | g.36223467A>G | CA192843991 | CLTA,GNE | c.1410T>C (p.Pro470=) c.1140T>C (p.Pro380=) c.1317T>C (p.Pro439=) c.485+19288A>G (n.485+19288A>G) c.987T>C (p.Pro329=) c.1302T>C (p.Pro434=) c.1257T>C (p.Pro419=) c.1164T>C (p.Pro388=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.36223467A>T | CA464495415 | CLTA,GNE | c.1410T>A (p.Pro470=) c.1140T>A (p.Pro380=) c.1317T>A (p.Pro439=) c.485+19288A>T (n.485+19288A>T) c.987T>A (p.Pro329=) c.1302T>A (p.Pro434=) c.1257T>A (p.Pro419=) c.1164T>A (p.Pro388=) | |
9 | g.36223468G>A | CA373427479 | CLTA,GNE | c.1409C>T (p.Pro470Leu) c.1139C>T (p.Pro380Leu) c.1316C>T (p.Pro439Leu) c.485+19289G>A (n.485+19289G>A) c.986C>T (p.Pro329Leu) c.1301C>T (p.Pro434Leu) c.1256C>T (p.Pro419Leu) c.1163C>T (p.Pro388Leu) | |
9 | g.36223468G>C | CA373427480 | CLTA,GNE | c.1409C>G (p.Pro470Arg) c.1139C>G (p.Pro380Arg) c.1316C>G (p.Pro439Arg) c.485+19289G>C (n.485+19289G>C) c.986C>G (p.Pro329Arg) c.1301C>G (p.Pro434Arg) c.1256C>G (p.Pro419Arg) c.1163C>G (p.Pro388Arg) | dbSNP gnomAD v4 |
9 | g.36223468G= | CA1846334527 | CLTA,GNE | c.1409C= (p.Pro470=) c.1139C= (p.Pro380=) c.1316C= (p.Pro439=) c.485+19289G= (n.485+19289G=) c.986C= (p.Pro329=) c.1301C= (p.Pro434=) c.1256C= (p.Pro419=) c.1163C= (p.Pro388=) | |
9 | g.36223468G>T | CA373427481 | CLTA,GNE | c.1409C>A (p.Pro470His) c.1139C>A (p.Pro380His) c.1316C>A (p.Pro439His) c.485+19289G>T (n.485+19289G>T) c.986C>A (p.Pro329His) c.1301C>A (p.Pro434His) c.1256C>A (p.Pro419His) c.1163C>A (p.Pro388His) | gnomAD v4 |
9 | g.36223469G>A | CA373427483 | CLTA,GNE | c.1408C>T (p.Pro470Ser) c.1138C>T (p.Pro380Ser) c.1315C>T (p.Pro439Ser) c.485+19290G>A (n.485+19290G>A) c.985C>T (p.Pro329Ser) c.1300C>T (p.Pro434Ser) c.1255C>T (p.Pro419Ser) c.1162C>T (p.Pro388Ser) | dbSNP gnomAD v2 |
9 | g.36223469G>C | CA373427485 | CLTA,GNE | c.1408C>G (p.Pro470Ala) c.1138C>G (p.Pro380Ala) c.1315C>G (p.Pro439Ala) c.485+19290G>C (n.485+19290G>C) c.985C>G (p.Pro329Ala) c.1300C>G (p.Pro434Ala) c.1255C>G (p.Pro419Ala) c.1162C>G (p.Pro388Ala) | |
9 | g.36223469G= | CA1846334534 | CLTA,GNE | c.1408C= (p.Pro470=) c.1138C= (p.Pro380=) c.1315C= (p.Pro439=) c.485+19290G= (n.485+19290G=) c.985C= (p.Pro329=) c.1300C= (p.Pro434=) c.1255C= (p.Pro419=) c.1162C= (p.Pro388=) | |
9 | g.36223469G>T | CA373427487 | CLTA,GNE | c.1408C>A (p.Pro470Thr) c.1138C>A (p.Pro380Thr) c.1315C>A (p.Pro439Thr) c.485+19290G>T (n.485+19290G>T) c.985C>A (p.Pro329Thr) c.1300C>A (p.Pro434Thr) c.1255C>A (p.Pro419Thr) c.1162C>A (p.Pro388Thr) | |
9 | g.36223470A>C | CA373427489 | CLTA,GNE | c.1407T>G (p.Asn469Lys) c.1137T>G (p.Asn379Lys) c.1314T>G (p.Asn438Lys) c.485+19291A>C (n.485+19291A>C) c.984T>G (p.Asn328Lys) c.1299T>G (p.Asn433Lys) c.1254T>G (p.Asn418Lys) c.1161T>G (p.Asn387Lys) | |
9 | g.36223470A>G | CA464495416 | CLTA,GNE | c.1407T>C (p.Asn469=) c.1137T>C (p.Asn379=) c.1314T>C (p.Asn438=) c.485+19291A>G (n.485+19291A>G) c.984T>C (p.Asn328=) c.1299T>C (p.Asn433=) c.1254T>C (p.Asn418=) c.1161T>C (p.Asn387=) | COSMIC COSMIC COSMIC |
9 | g.36223470A>T | CA373427490 | CLTA,GNE | c.1407T>A (p.Asn469Lys) c.1137T>A (p.Asn379Lys) c.1314T>A (p.Asn438Lys) c.485+19291A>T (n.485+19291A>T) c.984T>A (p.Asn328Lys) c.1299T>A (p.Asn433Lys) c.1254T>A (p.Asn418Lys) c.1161T>A (p.Asn387Lys) | |
9 | g.36223471T>A | CA5056503 | CLTA,GNE | c.1406A>T (p.Asn469Ile) c.1136A>T (p.Asn379Ile) c.1313A>T (p.Asn438Ile) c.485+19292T>A (n.485+19292T>A) c.983A>T (p.Asn328Ile) c.1298A>T (p.Asn433Ile) c.1253A>T (p.Asn418Ile) c.1160A>T (p.Asn387Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36223471T>C | CA373427493 | CLTA,GNE | c.1406A>G (p.Asn469Ser) c.1136A>G (p.Asn379Ser) c.1313A>G (p.Asn438Ser) c.485+19292T>C (n.485+19292T>C) c.983A>G (p.Asn328Ser) c.1298A>G (p.Asn433Ser) c.1253A>G (p.Asn418Ser) c.1160A>G (p.Asn387Ser) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.36223471T>G | CA373427494 | CLTA,GNE | c.1406A>C (p.Asn469Thr) c.1136A>C (p.Asn379Thr) c.1313A>C (p.Asn438Thr) c.485+19292T>G (n.485+19292T>G) c.983A>C (p.Asn328Thr) c.1298A>C (p.Asn433Thr) c.1253A>C (p.Asn418Thr) c.1160A>C (p.Asn387Thr) | |
9 | g.36223471T= | CA1846334541 | CLTA,GNE | c.1406A= (p.Asn469=) c.1136A= (p.Asn379=) c.1313A= (p.Asn438=) c.485+19292T= (n.485+19292T=) c.983A= (p.Asn328=) c.1298A= (p.Asn433=) c.1253A= (p.Asn418=) c.1160A= (p.Asn387=) | |
9 | g.36223472T>A | CA373427936 | CLTA,GNE | c.1405A>T (p.Asn469Tyr) c.1135A>T (p.Asn379Tyr) c.1312A>T (p.Asn438Tyr) c.485+19293T>A (n.485+19293T>A) c.982A>T (p.Asn328Tyr) c.1297A>T (p.Asn433Tyr) c.1252A>T (p.Asn418Tyr) c.1159A>T (p.Asn387Tyr) | |
9 | g.36223472T>C | CA373427937 | CLTA,GNE | c.1405A>G (p.Asn469Asp) c.1135A>G (p.Asn379Asp) c.1312A>G (p.Asn438Asp) c.485+19293T>C (n.485+19293T>C) c.982A>G (p.Asn328Asp) c.1297A>G (p.Asn433Asp) c.1252A>G (p.Asn418Asp) c.1159A>G (p.Asn387Asp) | ClinVar dbSNP |
9 | g.36223472T>G | CA373427933 | CLTA,GNE | c.1405A>C (p.Asn469His) c.1135A>C (p.Asn379His) c.1312A>C (p.Asn438His) c.485+19293T>G (n.485+19293T>G) c.982A>C (p.Asn328His) c.1297A>C (p.Asn433His) c.1252A>C (p.Asn418His) c.1159A>C (p.Asn387His) | |
9 | g.36223473G>A | CA464495418 | CLTA,GNE | c.1404C>T (p.Phe468=) c.1134C>T (p.Phe378=) c.1311C>T (p.Phe437=) c.485+19294G>A (n.485+19294G>A) c.981C>T (p.Phe327=) c.1296C>T (p.Phe432=) c.1251C>T (p.Phe417=) c.1158C>T (p.Phe386=) | ClinVar dbSNP gnomAD v4 |
9 | g.36223473G>C | CA373427939 | CLTA,GNE | c.1404C>G (p.Phe468Leu) c.1134C>G (p.Phe378Leu) c.1311C>G (p.Phe437Leu) c.485+19294G>C (n.485+19294G>C) c.981C>G (p.Phe327Leu) c.1296C>G (p.Phe432Leu) c.1251C>G (p.Phe417Leu) c.1158C>G (p.Phe386Leu) | |
9 | g.36223473G= | CA1846334551 | CLTA,GNE | c.1404C= (p.Phe468=) c.1134C= (p.Phe378=) c.1311C= (p.Phe437=) c.485+19294G= (n.485+19294G=) c.981C= (p.Phe327=) c.1296C= (p.Phe432=) c.1251C= (p.Phe417=) c.1158C= (p.Phe386=) | |
9 | g.36223473G>T | CA373427940 | CLTA,GNE | c.1404C>A (p.Phe468Leu) c.1134C>A (p.Phe378Leu) c.1311C>A (p.Phe437Leu) c.485+19294G>T (n.485+19294G>T) c.981C>A (p.Phe327Leu) c.1296C>A (p.Phe432Leu) c.1251C>A (p.Phe417Leu) c.1158C>A (p.Phe386Leu) | |
9 | g.36223474A= | CA1846334559 | CLTA,GNE | c.1403T= (p.Phe468=) c.1133T= (p.Phe378=) c.1310T= (p.Phe437=) c.485+19295A= (n.485+19295A=) c.980T= (p.Phe327=) c.1295T= (p.Phe432=) c.1250T= (p.Phe417=) c.1157T= (p.Phe386=) | |
9 | g.36223474A>C | CA373427942 | CLTA,GNE | c.1403T>G (p.Phe468Cys) c.1133T>G (p.Phe378Cys) c.1310T>G (p.Phe437Cys) c.485+19295A>C (n.485+19295A>C) c.980T>G (p.Phe327Cys) c.1295T>G (p.Phe432Cys) c.1250T>G (p.Phe417Cys) c.1157T>G (p.Phe386Cys) | |
9 | g.36223474A>G | CA5056504 | CLTA,GNE | c.1403T>C (p.Phe468Ser) c.1133T>C (p.Phe378Ser) c.1310T>C (p.Phe437Ser) c.485+19295A>G (n.485+19295A>G) c.980T>C (p.Phe327Ser) c.1295T>C (p.Phe432Ser) c.1250T>C (p.Phe417Ser) c.1157T>C (p.Phe386Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36223474A>T | CA373427945 | CLTA,GNE | c.1403T>A (p.Phe468Tyr) c.1133T>A (p.Phe378Tyr) c.1310T>A (p.Phe437Tyr) c.485+19295A>T (n.485+19295A>T) c.980T>A (p.Phe327Tyr) c.1295T>A (p.Phe432Tyr) c.1250T>A (p.Phe417Tyr) c.1157T>A (p.Phe386Tyr) | |
9 | g.36223475A>C | CA373427948 | CLTA,GNE | c.1402T>G (p.Phe468Val) c.1132T>G (p.Phe378Val) c.1309T>G (p.Phe437Val) c.485+19296A>C (n.485+19296A>C) c.979T>G (p.Phe327Val) c.1294T>G (p.Phe432Val) c.1249T>G (p.Phe417Val) c.1156T>G (p.Phe386Val) | dbSNP |
9 | g.36223475A>G | CA373427949 | CLTA,GNE | c.1402T>C (p.Phe468Leu) c.1132T>C (p.Phe378Leu) c.1309T>C (p.Phe437Leu) c.485+19296A>G (n.485+19296A>G) c.979T>C (p.Phe327Leu) c.1294T>C (p.Phe432Leu) c.1249T>C (p.Phe417Leu) c.1156T>C (p.Phe386Leu) | |
9 | g.36223475A>T | CA373427950 | CLTA,GNE | c.1402T>A (p.Phe468Ile) c.1132T>A (p.Phe378Ile) c.1309T>A (p.Phe437Ile) c.485+19296A>T (n.485+19296A>T) c.979T>A (p.Phe327Ile) c.1294T>A (p.Phe432Ile) c.1249T>A (p.Phe417Ile) c.1156T>A (p.Phe386Ile) | |
9 | g.36223476C>A | CA373427952 | CLTA,GNE | c.1401G>T (p.Gln467His) c.1131G>T (p.Gln377His) c.1308G>T (p.Gln436His) c.485+19297C>A (n.485+19297C>A) c.978G>T (p.Gln326His) c.1293G>T (p.Gln431His) c.1248G>T (p.Gln416His) c.1155G>T (p.Gln385His) | |
9 | g.36223476C>G | CA373427951 | CLTA,GNE | c.1401G>C (p.Gln467His) c.1131G>C (p.Gln377His) c.1308G>C (p.Gln436His) c.485+19297C>G (n.485+19297C>G) c.978G>C (p.Gln326His) c.1293G>C (p.Gln431His) c.1248G>C (p.Gln416His) c.1155G>C (p.Gln385His) | |
9 | g.36223476C>T | CA464495420 | CLTA,GNE | c.1401G>A (p.Gln467=) c.1131G>A (p.Gln377=) c.1308G>A (p.Gln436=) c.485+19297C>T (n.485+19297C>T) c.978G>A (p.Gln326=) c.1293G>A (p.Gln431=) c.1248G>A (p.Gln416=) c.1155G>A (p.Gln385=) | ClinVar dbSNP |
9 | g.36223477del | CA2579338452 | CLTA,GNE | c.1400del (p.Gln467ArgfsTer13) c.1130del (p.Gln377ArgfsTer13) c.1307del (p.Gln436ArgfsTer13) c.485+19298del (n.485+19298del) c.977del (p.Gln326ArgfsTer13) c.1292del (p.Gln431ArgfsTer13) c.1247del (p.Gln416ArgfsTer13) c.1154del (p.Gln385ArgfsTer13) | |
9 | g.36223477T>A | CA373427953 | CLTA,GNE | c.1400A>T (p.Gln467Leu) c.1130A>T (p.Gln377Leu) c.1307A>T (p.Gln436Leu) c.485+19298T>A (n.485+19298T>A) c.977A>T (p.Gln326Leu) c.1292A>T (p.Gln431Leu) c.1247A>T (p.Gln416Leu) c.1154A>T (p.Gln385Leu) | |
9 | g.36223477T>C | CA373427954 | CLTA,GNE | c.1400A>G (p.Gln467Arg) c.1130A>G (p.Gln377Arg) c.1307A>G (p.Gln436Arg) c.485+19298T>C (n.485+19298T>C) c.977A>G (p.Gln326Arg) c.1292A>G (p.Gln431Arg) c.1247A>G (p.Gln416Arg) c.1154A>G (p.Gln385Arg) | |
9 | g.36223477T>G | CA373427955 | CLTA,GNE | c.1400A>C (p.Gln467Pro) c.1130A>C (p.Gln377Pro) c.1307A>C (p.Gln436Pro) c.485+19298T>G (n.485+19298T>G) c.977A>C (p.Gln326Pro) c.1292A>C (p.Gln431Pro) c.1247A>C (p.Gln416Pro) c.1154A>C (p.Gln385Pro) | |
9 | g.36223478_36223481del | CA2783550410 | CLTA,GNE | c.1397_1400del (p.Thr466SerfsTer13) c.1127_1130del (p.Thr376SerfsTer13) c.1304_1307del (p.Thr435SerfsTer13) c.485+19299_485+19302del (n.485+19299_485+19302del) c.974_977del (p.Thr325SerfsTer13) c.1289_1292del (p.Thr430SerfsTer13) c.1244_1247del (p.Thr415SerfsTer13) c.1151_1154del (p.Thr384SerfsTer13) | |
9 | g.36223478G>A | CA274118 | CLTA,GNE | c.1399C>T (p.Gln467Ter) c.1129C>T (p.Gln377Ter) c.1306C>T (p.Gln436Ter) c.485+19299G>A (n.485+19299G>A) c.976C>T (p.Gln326Ter) c.1291C>T (p.Gln431Ter) c.1246C>T (p.Gln416Ter) c.1153C>T (p.Gln385Ter) | ClinVar dbSNP gnomAD v2 |
9 | g.36223478G>C | CA373427957 | CLTA,GNE | c.1399C>G (p.Gln467Glu) c.1129C>G (p.Gln377Glu) c.1306C>G (p.Gln436Glu) c.485+19299G>C (n.485+19299G>C) c.976C>G (p.Gln326Glu) c.1291C>G (p.Gln431Glu) c.1246C>G (p.Gln416Glu) c.1153C>G (p.Gln385Glu) | |
9 | g.36223478G= | CA1846334564 | CLTA,GNE | c.1399C= (p.Gln467=) c.1129C= (p.Gln377=) c.1306C= (p.Gln436=) c.485+19299G= (n.485+19299G=) c.976C= (p.Gln326=) c.1291C= (p.Gln431=) c.1246C= (p.Gln416=) c.1153C= (p.Gln385=) | |
9 | g.36223478G>T | CA373427958 | CLTA,GNE | c.1399C>A (p.Gln467Lys) c.1129C>A (p.Gln377Lys) c.1306C>A (p.Gln436Lys) c.485+19299G>T (n.485+19299G>T) c.976C>A (p.Gln326Lys) c.1291C>A (p.Gln431Lys) c.1246C>A (p.Gln416Lys) c.1153C>A (p.Gln385Lys) | |
9 | g.36223479del | CA2580080535 | CLTA,GNE | c.1398del (p.Gln467SerfsTer13) c.1128del (p.Gln377SerfsTer13) c.1305del (p.Gln436SerfsTer13) c.485+19300del (n.485+19300del) c.975del (p.Gln326SerfsTer13) c.1290del (p.Gln431SerfsTer13) c.1245del (p.Gln416SerfsTer13) c.1152del (p.Gln385SerfsTer13) | ClinVar |
9 | g.36223479A>C | CA464495423 | CLTA,GNE | c.1398T>G (p.Thr466=) c.1128T>G (p.Thr376=) c.1305T>G (p.Thr435=) c.485+19300A>C (n.485+19300A>C) c.975T>G (p.Thr325=) c.1290T>G (p.Thr430=) c.1245T>G (p.Thr415=) c.1152T>G (p.Thr384=) | |
9 | g.36223479A>G | CA464495424 | CLTA,GNE | c.1398T>C (p.Thr466=) c.1128T>C (p.Thr376=) c.1305T>C (p.Thr435=) c.485+19300A>G (n.485+19300A>G) c.975T>C (p.Thr325=) c.1290T>C (p.Thr430=) c.1245T>C (p.Thr415=) c.1152T>C (p.Thr384=) | |
9 | g.36223479A>T | CA464495425 | CLTA,GNE | c.1398T>A (p.Thr466=) c.1128T>A (p.Thr376=) c.1305T>A (p.Thr435=) c.485+19300A>T (n.485+19300A>T) c.975T>A (p.Thr325=) c.1290T>A (p.Thr430=) c.1245T>A (p.Thr415=) c.1152T>A (p.Thr384=) | |
9 | g.36223480G>A | CA373427960 | CLTA,GNE | c.1397C>T (p.Thr466Ile) c.1127C>T (p.Thr376Ile) c.1304C>T (p.Thr435Ile) c.485+19301G>A (n.485+19301G>A) c.974C>T (p.Thr325Ile) c.1289C>T (p.Thr430Ile) c.1244C>T (p.Thr415Ile) c.1151C>T (p.Thr384Ile) | ClinVar dbSNP |
9 | g.36223480G>C | CA373427963 | CLTA,GNE | c.1397C>G (p.Thr466Ser) c.1127C>G (p.Thr376Ser) c.1304C>G (p.Thr435Ser) c.485+19301G>C (n.485+19301G>C) c.974C>G (p.Thr325Ser) c.1289C>G (p.Thr430Ser) c.1244C>G (p.Thr415Ser) c.1151C>G (p.Thr384Ser) | |
9 | g.36223480G= | CA1846334574 | CLTA,GNE | c.1397C= (p.Thr466=) c.1127C= (p.Thr376=) c.1304C= (p.Thr435=) c.485+19301G= (n.485+19301G=) c.974C= (p.Thr325=) c.1289C= (p.Thr430=) c.1244C= (p.Thr415=) c.1151C= (p.Thr384=) | |
9 | g.36223480G>T | CA373427961 | CLTA,GNE | c.1397C>A (p.Thr466Asn) c.1127C>A (p.Thr376Asn) c.1304C>A (p.Thr435Asn) c.485+19301G>T (n.485+19301G>T) c.974C>A (p.Thr325Asn) c.1289C>A (p.Thr430Asn) c.1244C>A (p.Thr415Asn) c.1151C>A (p.Thr384Asn) | |
9 | g.36223481T>A | CA373427964 | CLTA,GNE | c.1396A>T (p.Thr466Ser) c.1126A>T (p.Thr376Ser) c.1303A>T (p.Thr435Ser) c.485+19302T>A (n.485+19302T>A) c.973A>T (p.Thr325Ser) c.1288A>T (p.Thr430Ser) c.1243A>T (p.Thr415Ser) c.1150A>T (p.Thr384Ser) | |
9 | g.36223481T>C | CA373427966 | CLTA,GNE | c.1396A>G (p.Thr466Ala) c.1126A>G (p.Thr376Ala) c.1303A>G (p.Thr435Ala) c.485+19302T>C (n.485+19302T>C) c.973A>G (p.Thr325Ala) c.1288A>G (p.Thr430Ala) c.1243A>G (p.Thr415Ala) c.1150A>G (p.Thr384Ala) | |
9 | g.36223481T>G | CA373427967 | CLTA,GNE | c.1396A>C (p.Thr466Pro) c.1126A>C (p.Thr376Pro) c.1303A>C (p.Thr435Pro) c.485+19302T>G (n.485+19302T>G) c.973A>C (p.Thr325Pro) c.1288A>C (p.Thr430Pro) c.1243A>C (p.Thr415Pro) c.1150A>C (p.Thr384Pro) | |
9 | g.36223482A= | CA1846334591 | CLTA,GNE | c.1395T= (p.Tyr465=) c.1125T= (p.Tyr375=) c.1302T= (p.Tyr434=) c.485+19303A= (n.485+19303A=) c.972T= (p.Tyr324=) c.1287T= (p.Tyr429=) c.1242T= (p.Tyr414=) c.1149T= (p.Tyr383=) | |
9 | g.36223482A>C | CA373427968 | CLTA,GNE | c.1395T>G (p.Tyr465Ter) c.1125T>G (p.Tyr375Ter) c.1302T>G (p.Tyr434Ter) c.485+19303A>C (n.485+19303A>C) c.972T>G (p.Tyr324Ter) c.1287T>G (p.Tyr429Ter) c.1242T>G (p.Tyr414Ter) c.1149T>G (p.Tyr383Ter) | |
9 | g.36223482A>G | CA10606834 | CLTA,GNE | c.1395T>C (p.Tyr465=) c.1125T>C (p.Tyr375=) c.1302T>C (p.Tyr434=) c.485+19303A>G (n.485+19303A>G) c.972T>C (p.Tyr324=) c.1287T>C (p.Tyr429=) c.1242T>C (p.Tyr414=) c.1149T>C (p.Tyr383=) | ClinVar dbSNP gnomAD v4 |
9 | g.36223482A>T | CA373427971 | CLTA,GNE | c.1395T>A (p.Tyr465Ter) c.1125T>A (p.Tyr375Ter) c.1302T>A (p.Tyr434Ter) c.485+19303A>T (n.485+19303A>T) c.972T>A (p.Tyr324Ter) c.1287T>A (p.Tyr429Ter) c.1242T>A (p.Tyr414Ter) c.1149T>A (p.Tyr383Ter) | |
9 | g.36223483T>A | CA373427972 | CLTA,GNE | c.1394A>T (p.Tyr465Phe) c.1124A>T (p.Tyr375Phe) c.1301A>T (p.Tyr434Phe) c.485+19304T>A (n.485+19304T>A) c.971A>T (p.Tyr324Phe) c.1286A>T (p.Tyr429Phe) c.1241A>T (p.Tyr414Phe) c.1148A>T (p.Tyr383Phe) | |
9 | g.36223483T>C | CA373427973 | CLTA,GNE | c.1394A>G (p.Tyr465Cys) c.1124A>G (p.Tyr375Cys) c.1301A>G (p.Tyr434Cys) c.485+19304T>C (n.485+19304T>C) c.971A>G (p.Tyr324Cys) c.1286A>G (p.Tyr429Cys) c.1241A>G (p.Tyr414Cys) c.1148A>G (p.Tyr383Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.36223483T>G | CA373427974 | CLTA,GNE | c.1394A>C (p.Tyr465Ser) c.1124A>C (p.Tyr375Ser) c.1301A>C (p.Tyr434Ser) c.485+19304T>G (n.485+19304T>G) c.971A>C (p.Tyr324Ser) c.1286A>C (p.Tyr429Ser) c.1241A>C (p.Tyr414Ser) c.1148A>C (p.Tyr383Ser) | |
9 | g.36223483T= | CA1846334600 | CLTA,GNE | c.1394A= (p.Tyr465=) c.1124A= (p.Tyr375=) c.1301A= (p.Tyr434=) c.485+19304T= (n.485+19304T=) c.971A= (p.Tyr324=) c.1286A= (p.Tyr429=) c.1241A= (p.Tyr414=) c.1148A= (p.Tyr383=) | |
9 | g.36223484A= | CA1846334625 | CLTA,GNE | c.1393T= (p.Tyr465=) c.1123T= (p.Tyr375=) c.1300T= (p.Tyr434=) c.485+19305A= (n.485+19305A=) c.970T= (p.Tyr324=) c.1285T= (p.Tyr429=) c.1240T= (p.Tyr414=) c.1147T= (p.Tyr383=) | |
9 | g.36223484A>C | CA373427978 | CLTA,GNE | c.1393T>G (p.Tyr465Asp) c.1123T>G (p.Tyr375Asp) c.1300T>G (p.Tyr434Asp) c.485+19305A>C (n.485+19305A>C) c.970T>G (p.Tyr324Asp) c.1285T>G (p.Tyr429Asp) c.1240T>G (p.Tyr414Asp) c.1147T>G (p.Tyr383Asp) | |
9 | g.36223484A>G | CA373427980 | CLTA,GNE | c.1393T>C (p.Tyr465His) c.1123T>C (p.Tyr375His) c.1300T>C (p.Tyr434His) c.485+19305A>G (n.485+19305A>G) c.970T>C (p.Tyr324His) c.1285T>C (p.Tyr429His) c.1240T>C (p.Tyr414His) c.1147T>C (p.Tyr383His) | |
9 | g.36223484A>T | CA5056505 | CLTA,GNE | c.1393T>A (p.Tyr465Asn) c.1123T>A (p.Tyr375Asn) c.1300T>A (p.Tyr434Asn) c.485+19305A>T (n.485+19305A>T) c.970T>A (p.Tyr324Asn) c.1285T>A (p.Tyr429Asn) c.1240T>A (p.Tyr414Asn) c.1147T>A (p.Tyr383Asn) | dbSNP ExAC gnomAD v3 gnomAD v4 |
9 | g.36223484_36223487delinsACTT | CA1846334629 | CLTA,GNE | c.1390_1393delinsAAGT (p.Lys464=) c.1120_1123delinsAAGT (p.Lys374=) c.1297_1300delinsAAGT (p.Lys433=) c.485+19305_485+19308delinsACTT (n.485+19305_485+19308delinsACTT) c.967_970delinsAAGT (p.Lys323=) c.1282_1285delinsAAGT (p.Lys428=) c.1237_1240delinsAAGT (p.Lys413=) c.1144_1147delinsAAGT (p.Lys382=) | |
9 | g.36223485C>A | CA373427985 | CLTA,GNE | c.1392G>T (p.Lys464Asn) c.1122G>T (p.Lys374Asn) c.1299G>T (p.Lys433Asn) c.485+19306C>A (n.485+19306C>A) c.969G>T (p.Lys323Asn) c.1284G>T (p.Lys428Asn) c.1239G>T (p.Lys413Asn) c.1146G>T (p.Lys382Asn) | |
9 | g.36223485C>G | CA373427986 | CLTA,GNE | c.1392G>C (p.Lys464Asn) c.1122G>C (p.Lys374Asn) c.1299G>C (p.Lys433Asn) c.485+19306C>G (n.485+19306C>G) c.969G>C (p.Lys323Asn) c.1284G>C (p.Lys428Asn) c.1239G>C (p.Lys413Asn) c.1146G>C (p.Lys382Asn) | |
9 | g.36223485C>T | CA464495429 | CLTA,GNE | c.1392G>A (p.Lys464=) c.1122G>A (p.Lys374=) c.1299G>A (p.Lys433=) c.485+19306C>T (n.485+19306C>T) c.969G>A (p.Lys323=) c.1284G>A (p.Lys428=) c.1239G>A (p.Lys413=) c.1146G>A (p.Lys382=) | |
9 | g.36223488_36223490del | CA587787344 | CLTA,GNE | c.1390_1392del (p.Lys464del) c.1120_1122del (p.Lys374del) c.1297_1299del (p.Lys433del) c.485+19309_485+19311del (n.485+19309_485+19311del) c.967_969del (p.Lys323del) c.1282_1284del (p.Lys428del) c.1237_1239del (p.Lys413del) c.1144_1146del (p.Lys382del) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.36223486T>A | CA373427991 | CLTA,GNE | c.1391A>T (p.Lys464Met) c.1121A>T (p.Lys374Met) c.1298A>T (p.Lys433Met) c.485+19307T>A (n.485+19307T>A) c.968A>T (p.Lys323Met) c.1283A>T (p.Lys428Met) c.1238A>T (p.Lys413Met) c.1145A>T (p.Lys382Met) | |
9 | g.36223486T>C | CA373427993 | CLTA,GNE | c.1391A>G (p.Lys464Arg) c.1121A>G (p.Lys374Arg) c.1298A>G (p.Lys433Arg) c.485+19307T>C (n.485+19307T>C) c.968A>G (p.Lys323Arg) c.1283A>G (p.Lys428Arg) c.1238A>G (p.Lys413Arg) c.1145A>G (p.Lys382Arg) | |
9 | g.36223486T>G | CA373427995 | CLTA,GNE | c.1391A>C (p.Lys464Thr) c.1121A>C (p.Lys374Thr) c.1298A>C (p.Lys433Thr) c.485+19307T>G (n.485+19307T>G) c.968A>C (p.Lys323Thr) c.1283A>C (p.Lys428Thr) c.1238A>C (p.Lys413Thr) c.1145A>C (p.Lys382Thr) | |
9 | g.36223487T>A | CA373427996 | CLTA,GNE | c.1390A>T (p.Lys464Ter) c.1120A>T (p.Lys374Ter) c.1297A>T (p.Lys433Ter) c.485+19308T>A (n.485+19308T>A) c.967A>T (p.Lys323Ter) c.1282A>T (p.Lys428Ter) c.1237A>T (p.Lys413Ter) c.1144A>T (p.Lys382Ter) | |
9 | g.36223487T>C | CA373427997 | CLTA,GNE | c.1390A>G (p.Lys464Glu) c.1120A>G (p.Lys374Glu) c.1297A>G (p.Lys433Glu) c.485+19308T>C (n.485+19308T>C) c.967A>G (p.Lys323Glu) c.1282A>G (p.Lys428Glu) c.1237A>G (p.Lys413Glu) c.1144A>G (p.Lys382Glu) | |
9 | g.36223487T>G | CA373427998 | CLTA,GNE | c.1390A>C (p.Lys464Gln) c.1120A>C (p.Lys374Gln) c.1297A>C (p.Lys433Gln) c.485+19308T>G (n.485+19308T>G) c.967A>C (p.Lys323Gln) c.1282A>C (p.Lys428Gln) c.1237A>C (p.Lys413Gln) c.1144A>C (p.Lys382Gln) | |
9 | g.36223488C>A | CA373427999 | CLTA,GNE | c.1389G>T (p.Lys463Asn) c.1119G>T (p.Lys373Asn) c.1296G>T (p.Lys432Asn) c.485+19309C>A (n.485+19309C>A) c.966G>T (p.Lys322Asn) c.1281G>T (p.Lys427Asn) c.1236G>T (p.Lys412Asn) c.1143G>T (p.Lys381Asn) | |
9 | g.36223488C>G | CA373428000 | CLTA,GNE | c.1389G>C (p.Lys463Asn) c.1119G>C (p.Lys373Asn) c.1296G>C (p.Lys432Asn) c.485+19309C>G (n.485+19309C>G) c.966G>C (p.Lys322Asn) c.1281G>C (p.Lys427Asn) c.1236G>C (p.Lys412Asn) c.1143G>C (p.Lys381Asn) | |
9 | g.36223488C>T | CA464495433 | CLTA,GNE | c.1389G>A (p.Lys463=) c.1119G>A (p.Lys373=) c.1296G>A (p.Lys432=) c.485+19309C>T (n.485+19309C>T) c.966G>A (p.Lys322=) c.1281G>A (p.Lys427=) c.1236G>A (p.Lys412=) c.1143G>A (p.Lys381=) | |
9 | g.36223489T>A | CA373428001 | CLTA,GNE | c.1388A>T (p.Lys463Met) c.1118A>T (p.Lys373Met) c.1295A>T (p.Lys432Met) c.485+19310T>A (n.485+19310T>A) c.965A>T (p.Lys322Met) c.1280A>T (p.Lys427Met) c.1235A>T (p.Lys412Met) c.1142A>T (p.Lys381Met) | |
9 | g.36223489T>C | CA373428003 | CLTA,GNE | c.1388A>G (p.Lys463Arg) c.1118A>G (p.Lys373Arg) c.1295A>G (p.Lys432Arg) c.485+19310T>C (n.485+19310T>C) c.965A>G (p.Lys322Arg) c.1280A>G (p.Lys427Arg) c.1235A>G (p.Lys412Arg) c.1142A>G (p.Lys381Arg) | |
9 | g.36223489T>G | CA373428005 | CLTA,GNE | c.1388A>C (p.Lys463Thr) c.1118A>C (p.Lys373Thr) c.1295A>C (p.Lys432Thr) c.485+19310T>G (n.485+19310T>G) c.965A>C (p.Lys322Thr) c.1280A>C (p.Lys427Thr) c.1235A>C (p.Lys412Thr) c.1142A>C (p.Lys381Thr) | |
9 | g.36223490del | CA2689945904 | CLTA,GNE | c.1388del (p.Lys463ArgfsTer17) c.1118del (p.Lys373ArgfsTer17) c.1295del (p.Lys432ArgfsTer17) c.485+19311del (n.485+19311del) c.965del (p.Lys322ArgfsTer17) c.1280del (p.Lys427ArgfsTer17) c.1235del (p.Lys412ArgfsTer17) c.1142del (p.Lys381ArgfsTer17) | gnomAD v4 |
9 | g.36223490T>A | CA373428010 | CLTA,GNE | c.1387A>T (p.Lys463Ter) c.1117A>T (p.Lys373Ter) c.1294A>T (p.Lys432Ter) c.485+19311T>A (n.485+19311T>A) c.964A>T (p.Lys322Ter) c.1279A>T (p.Lys427Ter) c.1234A>T (p.Lys412Ter) c.1141A>T (p.Lys381Ter) | ClinVar dbSNP |
9 | g.36223490T>C | CA373428011 | CLTA,GNE | c.1387A>G (p.Lys463Glu) c.1117A>G (p.Lys373Glu) c.1294A>G (p.Lys432Glu) c.485+19311T>C (n.485+19311T>C) c.964A>G (p.Lys322Glu) c.1279A>G (p.Lys427Glu) c.1234A>G (p.Lys412Glu) c.1141A>G (p.Lys381Glu) | |
9 | g.36223490T>G | CA373428013 | CLTA,GNE | c.1387A>C (p.Lys463Gln) c.1117A>C (p.Lys373Gln) c.1294A>C (p.Lys432Gln) c.485+19311T>G (n.485+19311T>G) c.964A>C (p.Lys322Gln) c.1279A>C (p.Lys427Gln) c.1234A>C (p.Lys412Gln) c.1141A>C (p.Lys381Gln) | |
9 | g.36223490T= | CA1846334644 | CLTA,GNE | c.1387A= (p.Lys463=) c.1117A= (p.Lys373=) c.1294A= (p.Lys432=) c.485+19311T= (n.485+19311T=) c.964A= (p.Lys322=) c.1279A= (p.Lys427=) c.1234A= (p.Lys412=) c.1141A= (p.Lys381=) | |
9 | g.36223491A= | CA1846334652 | CLTA,GNE | c.1386T= (p.Val462=) c.1116T= (p.Val372=) c.1293T= (p.Val431=) c.485+19312A= (n.485+19312A=) c.963T= (p.Val321=) c.1278T= (p.Val426=) c.1233T= (p.Val411=) c.1140T= (p.Val380=) | |
9 | g.36223491A>C | CA464495436 | CLTA,GNE | c.1386T>G (p.Val462=) c.1116T>G (p.Val372=) c.1293T>G (p.Val431=) c.485+19312A>C (n.485+19312A>C) c.963T>G (p.Val321=) c.1278T>G (p.Val426=) c.1233T>G (p.Val411=) c.1140T>G (p.Val380=) | |
9 | g.36223491A>G | CA464495437 | CLTA,GNE | c.1386T>C (p.Val462=) c.1116T>C (p.Val372=) c.1293T>C (p.Val431=) c.485+19312A>G (n.485+19312A>G) c.963T>C (p.Val321=) c.1278T>C (p.Val426=) c.1233T>C (p.Val411=) c.1140T>C (p.Val380=) | |
9 | g.36223491A>T | CA5056506 | CLTA,GNE | c.1386T>A (p.Val462=) c.1116T>A (p.Val372=) c.1293T>A (p.Val431=) c.485+19312A>T (n.485+19312A>T) c.963T>A (p.Val321=) c.1278T>A (p.Val426=) c.1233T>A (p.Val411=) c.1140T>A (p.Val380=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36223492del | CA2689945905 | CLTA,GNE | c.1386del (p.Lys463ArgfsTer17) c.1116del (p.Lys373ArgfsTer17) c.1293del (p.Lys432ArgfsTer17) c.485+19313del (n.485+19313del) c.963del (p.Lys322ArgfsTer17) c.1278del (p.Lys427ArgfsTer17) c.1233del (p.Lys412ArgfsTer17) c.1140del (p.Lys381ArgfsTer17) | gnomAD v4 |
9 | g.36223492A>C | CA373428015 | CLTA,GNE | c.1385T>G (p.Val462Gly) c.1115T>G (p.Val372Gly) c.1292T>G (p.Val431Gly) c.485+19313A>C (n.485+19313A>C) c.962T>G (p.Val321Gly) c.1277T>G (p.Val426Gly) c.1232T>G (p.Val411Gly) c.1139T>G (p.Val380Gly) | |
9 | g.36223492A>G | CA373428016 | CLTA,GNE | c.1385T>C (p.Val462Ala) c.1115T>C (p.Val372Ala) c.1292T>C (p.Val431Ala) c.485+19313A>G (n.485+19313A>G) c.962T>C (p.Val321Ala) c.1277T>C (p.Val426Ala) c.1232T>C (p.Val411Ala) c.1139T>C (p.Val380Ala) | gnomAD v4 |
9 | g.36223492A>T | CA373428017 | CLTA,GNE | c.1385T>A (p.Val462Asp) c.1115T>A (p.Val372Asp) c.1292T>A (p.Val431Asp) c.485+19313A>T (n.485+19313A>T) c.962T>A (p.Val321Asp) c.1277T>A (p.Val426Asp) c.1232T>A (p.Val411Asp) c.1139T>A (p.Val380Asp) | |
9 | g.36223493C>A | CA373428019 | CLTA,GNE | c.1384G>T (p.Val462Phe) c.1114G>T (p.Val372Phe) c.1291G>T (p.Val431Phe) c.485+19314C>A (n.485+19314C>A) c.961G>T (p.Val321Phe) c.1276G>T (p.Val426Phe) c.1231G>T (p.Val411Phe) c.1138G>T (p.Val380Phe) | |
9 | g.36223493C= | CA1846334657 | CLTA,GNE | c.1384G= (p.Val462=) c.1114G= (p.Val372=) c.1291G= (p.Val431=) c.485+19314C= (n.485+19314C=) c.961G= (p.Val321=) c.1276G= (p.Val426=) c.1231G= (p.Val411=) c.1138G= (p.Val380=) | |
9 | g.36223493C>G | CA373428021 | CLTA,GNE | c.1384G>C (p.Val462Leu) c.1114G>C (p.Val372Leu) c.1291G>C (p.Val431Leu) c.485+19314C>G (n.485+19314C>G) c.961G>C (p.Val321Leu) c.1276G>C (p.Val426Leu) c.1231G>C (p.Val411Leu) c.1138G>C (p.Val380Leu) | |
9 | g.36223493C>T | CA373428023 | CLTA,GNE | c.1384G>A (p.Val462Ile) c.1114G>A (p.Val372Ile) c.1291G>A (p.Val431Ile) c.485+19314C>T (n.485+19314C>T) c.961G>A (p.Val321Ile) c.1276G>A (p.Val426Ile) c.1231G>A (p.Val411Ile) c.1138G>A (p.Val380Ile) | dbSNP |
9 | g.36223494T>A | CA464495440 | CLTA,GNE | c.1383A>T (p.Ile461=) c.1113A>T (p.Ile371=) c.1290A>T (p.Ile430=) c.485+19315T>A (n.485+19315T>A) c.960A>T (p.Ile320=) c.1275A>T (p.Ile425=) c.1230A>T (p.Ile410=) c.1137A>T (p.Ile379=) | |
9 | g.36223494T>C | CA373428027 | CLTA,GNE | c.1383A>G (p.Ile461Met) c.1113A>G (p.Ile371Met) c.1290A>G (p.Ile430Met) c.485+19315T>C (n.485+19315T>C) c.960A>G (p.Ile320Met) c.1275A>G (p.Ile425Met) c.1230A>G (p.Ile410Met) c.1137A>G (p.Ile379Met) | |
9 | g.36223494T>G | CA464495441 | CLTA,GNE | c.1383A>C (p.Ile461=) c.1113A>C (p.Ile371=) c.1290A>C (p.Ile430=) c.485+19315T>G (n.485+19315T>G) c.960A>C (p.Ile320=) c.1275A>C (p.Ile425=) c.1230A>C (p.Ile410=) c.1137A>C (p.Ile379=) | |
9 | g.36223495A>C | CA373428029 | CLTA,GNE | c.1382T>G (p.Ile461Arg) c.1112T>G (p.Ile371Arg) c.1289T>G (p.Ile430Arg) c.485+19316A>C (n.485+19316A>C) c.959T>G (p.Ile320Arg) c.1274T>G (p.Ile425Arg) c.1229T>G (p.Ile410Arg) c.1136T>G (p.Ile379Arg) | |
9 | g.36223495A>G | CA373428031 | CLTA,GNE | c.1382T>C (p.Ile461Thr) c.1112T>C (p.Ile371Thr) c.1289T>C (p.Ile430Thr) c.485+19316A>G (n.485+19316A>G) c.959T>C (p.Ile320Thr) c.1274T>C (p.Ile425Thr) c.1229T>C (p.Ile410Thr) c.1136T>C (p.Ile379Thr) | |
9 | g.36223495A>T | CA373428033 | CLTA,GNE | c.1382T>A (p.Ile461Lys) c.1112T>A (p.Ile371Lys) c.1289T>A (p.Ile430Lys) c.485+19316A>T (n.485+19316A>T) c.959T>A (p.Ile320Lys) c.1274T>A (p.Ile425Lys) c.1229T>A (p.Ile410Lys) c.1136T>A (p.Ile379Lys) | |
9 | g.36223496T>A | CA373428035 | CLTA,GNE | c.1381A>T (p.Ile461Leu) c.1111A>T (p.Ile371Leu) c.1288A>T (p.Ile430Leu) c.485+19317T>A (n.485+19317T>A) c.958A>T (p.Ile320Leu) c.1273A>T (p.Ile425Leu) c.1228A>T (p.Ile410Leu) c.1135A>T (p.Ile379Leu) | |
9 | g.36223496T>C | CA373428040 | CLTA,GNE | c.1381A>G (p.Ile461Val) c.1111A>G (p.Ile371Val) c.1288A>G (p.Ile430Val) c.485+19317T>C (n.485+19317T>C) c.958A>G (p.Ile320Val) c.1273A>G (p.Ile425Val) c.1228A>G (p.Ile410Val) c.1135A>G (p.Ile379Val) | gnomAD v4 |
9 | g.36223496T>G | CA373428042 | CLTA,GNE | c.1381A>C (p.Ile461Leu) c.1111A>C (p.Ile371Leu) c.1288A>C (p.Ile430Leu) c.485+19317T>G (n.485+19317T>G) c.958A>C (p.Ile320Leu) c.1273A>C (p.Ile425Leu) c.1228A>C (p.Ile410Leu) c.1135A>C (p.Ile379Leu) | |
9 | g.36223497T>A | CA373428043 | CLTA,GNE | c.1380A>T (p.Glu460Asp) c.1110A>T (p.Glu370Asp) c.1287A>T (p.Glu429Asp) c.485+19318T>A (n.485+19318T>A) c.957A>T (p.Glu319Asp) c.1272A>T (p.Glu424Asp) c.1227A>T (p.Glu409Asp) c.1134A>T (p.Glu378Asp) | |
9 | g.36223497T>C | CA5056507 | CLTA,GNE | c.1380A>G (p.Glu460=) c.1110A>G (p.Glu370=) c.1287A>G (p.Glu429=) c.485+19318T>C (n.485+19318T>C) c.957A>G (p.Glu319=) c.1272A>G (p.Glu424=) c.1227A>G (p.Glu409=) c.1134A>G (p.Glu378=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36223497T>G | CA373428048 | CLTA,GNE | c.1380A>C (p.Glu460Asp) c.1110A>C (p.Glu370Asp) c.1287A>C (p.Glu429Asp) c.485+19318T>G (n.485+19318T>G) c.957A>C (p.Glu319Asp) c.1272A>C (p.Glu424Asp) c.1227A>C (p.Glu409Asp) c.1134A>C (p.Glu378Asp) | |
9 | g.36223497T= | CA1846334660 | CLTA,GNE | c.1380A= (p.Glu460=) c.1110A= (p.Glu370=) c.1287A= (p.Glu429=) c.485+19318T= (n.485+19318T=) c.957A= (p.Glu319=) c.1272A= (p.Glu424=) c.1227A= (p.Glu409=) c.1134A= (p.Glu378=) | |
9 | g.36223498T>A | CA373428051 | CLTA,GNE | c.1379A>T (p.Glu460Val) c.1109A>T (p.Glu370Val) c.1286A>T (p.Glu429Val) c.485+19319T>A (n.485+19319T>A) c.956A>T (p.Glu319Val) c.1271A>T (p.Glu424Val) c.1226A>T (p.Glu409Val) c.1133A>T (p.Glu378Val) | |
9 | g.36223498T>C | CA373428053 | CLTA,GNE | c.1379A>G (p.Glu460Gly) c.1109A>G (p.Glu370Gly) c.1286A>G (p.Glu429Gly) c.485+19319T>C (n.485+19319T>C) c.956A>G (p.Glu319Gly) c.1271A>G (p.Glu424Gly) c.1226A>G (p.Glu409Gly) c.1133A>G (p.Glu378Gly) | |
9 | g.36223498T>G | CA373428055 | CLTA,GNE | c.1379A>C (p.Glu460Ala) c.1109A>C (p.Glu370Ala) c.1286A>C (p.Glu429Ala) c.485+19319T>G (n.485+19319T>G) c.956A>C (p.Glu319Ala) c.1271A>C (p.Glu424Ala) c.1226A>C (p.Glu409Ala) c.1133A>C (p.Glu378Ala) | |
9 | g.36223499C>A | CA373428056 | CLTA,GNE | c.1378G>T (p.Glu460Ter) c.1108G>T (p.Glu370Ter) c.1285G>T (p.Glu429Ter) c.485+19320C>A (n.485+19320C>A) c.955G>T (p.Glu319Ter) c.1270G>T (p.Glu424Ter) c.1225G>T (p.Glu409Ter) c.1132G>T (p.Glu378Ter) | gnomAD v4 |
9 | g.36223499C= | CA1846334664 | CLTA,GNE | c.1378G= (p.Glu460=) c.1108G= (p.Glu370=) c.1285G= (p.Glu429=) c.485+19320C= (n.485+19320C=) c.955G= (p.Glu319=) c.1270G= (p.Glu424=) c.1225G= (p.Glu409=) c.1132G= (p.Glu378=) | |
9 | g.36223499C>G | CA373428058 | CLTA,GNE | c.1378G>C (p.Glu460Gln) c.1108G>C (p.Glu370Gln) c.1285G>C (p.Glu429Gln) c.485+19320C>G (n.485+19320C>G) c.955G>C (p.Glu319Gln) c.1270G>C (p.Glu424Gln) c.1225G>C (p.Glu409Gln) c.1132G>C (p.Glu378Gln) | |
9 | g.36223499C>T | CA373428060 | CLTA,GNE | c.1378G>A (p.Glu460Lys) c.1108G>A (p.Glu370Lys) c.1285G>A (p.Glu429Lys) c.485+19320C>T (n.485+19320C>T) c.955G>A (p.Glu319Lys) c.1270G>A (p.Glu424Lys) c.1225G>A (p.Glu409Lys) c.1132G>A (p.Glu378Lys) | ClinVar dbSNP |
9 | g.36223500A>C | CA464495446 | CLTA,GNE | c.1377T>G (p.Gly459=) c.1107T>G (p.Gly369=) c.1284T>G (p.Gly428=) c.485+19321A>C (n.485+19321A>C) c.954T>G (p.Gly318=) c.1269T>G (p.Gly423=) c.1224T>G (p.Gly408=) c.1131T>G (p.Gly377=) | |
9 | g.36223500A>G | CA464495447 | CLTA,GNE | c.1377T>C (p.Gly459=) c.1107T>C (p.Gly369=) c.1284T>C (p.Gly428=) c.485+19321A>G (n.485+19321A>G) c.954T>C (p.Gly318=) c.1269T>C (p.Gly423=) c.1224T>C (p.Gly408=) c.1131T>C (p.Gly377=) | |
9 | g.36223500A>T | CA464495448 | CLTA,GNE | c.1377T>A (p.Gly459=) c.1107T>A (p.Gly369=) c.1284T>A (p.Gly428=) c.485+19321A>T (n.485+19321A>T) c.954T>A (p.Gly318=) c.1269T>A (p.Gly423=) c.1224T>A (p.Gly408=) c.1131T>A (p.Gly377=) | |
9 | g.36223500_36223501delinsAC | CA1846334669 | CLTA,GNE | c.1376_1377delinsGT (p.Gly459=) c.1106_1107delinsGT (p.Gly369=) c.1283_1284delinsGT (p.Gly428=) c.485+19321_485+19322delinsAC (n.485+19321_485+19322delinsAC) c.953_954delinsGT (p.Gly318=) c.1268_1269delinsGT (p.Gly423=) c.1223_1224delinsGT (p.Gly408=) c.1130_1131delinsGT (p.Gly377=) | |
9 | g.36223501C>A | CA373428062 | CLTA,GNE | c.1376G>T (p.Gly459Val) c.1106G>T (p.Gly369Val) c.1283G>T (p.Gly428Val) c.485+19322C>A (n.485+19322C>A) c.953G>T (p.Gly318Val) c.1268G>T (p.Gly423Val) c.1223G>T (p.Gly408Val) c.1130G>T (p.Gly377Val) | |
9 | g.36223501C>G | CA373428063 | CLTA,GNE | c.1376G>C (p.Gly459Ala) c.1106G>C (p.Gly369Ala) c.1283G>C (p.Gly428Ala) c.485+19322C>G (n.485+19322C>G) c.953G>C (p.Gly318Ala) c.1268G>C (p.Gly423Ala) c.1223G>C (p.Gly408Ala) c.1130G>C (p.Gly377Ala) | |
9 | g.36223501C>T | CA373428064 | CLTA,GNE | c.1376G>A (p.Gly459Asp) c.1106G>A (p.Gly369Asp) c.1283G>A (p.Gly428Asp) c.485+19322C>T (n.485+19322C>T) c.953G>A (p.Gly318Asp) c.1268G>A (p.Gly423Asp) c.1223G>A (p.Gly408Asp) c.1130G>A (p.Gly377Asp) | gnomAD v4 |
9 | g.36223503del | CA16041315 | CLTA,GNE | c.1376del c.1106del c.1283del c.485+19324del (n.485+19324del) c.953del c.1268del c.1223del c.1130del | ClinVar dbSNP |
9 | g.36223502C>A | CA373428066 | CLTA,GNE | c.1375G>T (p.Gly459Cys) c.1105G>T (p.Gly369Cys) c.1282G>T (p.Gly428Cys) c.485+19323C>A (n.485+19323C>A) c.952G>T (p.Gly318Cys) c.1267G>T (p.Gly423Cys) c.1222G>T (p.Gly408Cys) c.1129G>T (p.Gly377Cys) | |
9 | g.36223502C= | CA1846334678 | CLTA,GNE | c.1375G= (p.Gly459=) c.1105G= (p.Gly369=) c.1282G= (p.Gly428=) c.485+19323C= (n.485+19323C=) c.952G= (p.Gly318=) c.1267G= (p.Gly423=) c.1222G= (p.Gly408=) c.1129G= (p.Gly377=) | |
9 | g.36223502C>G | CA373428068 | CLTA,GNE | c.1375G>C (p.Gly459Arg) c.1105G>C (p.Gly369Arg) c.1282G>C (p.Gly428Arg) c.485+19323C>G (n.485+19323C>G) c.952G>C (p.Gly318Arg) c.1267G>C (p.Gly423Arg) c.1222G>C (p.Gly408Arg) c.1129G>C (p.Gly377Arg) | |
9 | g.36223502C>T | CA5056508 | CLTA,GNE | c.1375G>A (p.Gly459Ser) c.1105G>A (p.Gly369Ser) c.1282G>A (p.Gly428Ser) c.485+19323C>T (n.485+19323C>T) c.952G>A (p.Gly318Ser) c.1267G>A (p.Gly423Ser) c.1222G>A (p.Gly408Ser) c.1129G>A (p.Gly377Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36223503C>A | CA373428072 | CLTA,GNE | c.1375-1G>T (n.1375-1G>T) c.1105-1G>T (n.1105-1G>T) c.1282-1G>T (n.1282-1G>T) c.485+19324C>A (n.485+19324C>A) c.952-1G>T (n.952-1G>T) c.1267-1G>T (n.1267-1G>T) c.1222-1G>T (n.1222-1G>T) c.1129-1G>T (n.1129-1G>T) | |
9 | g.36223503C>G | CA373428071 | CLTA,GNE | c.1375-1G>C (n.1375-1G>C) c.1105-1G>C (n.1105-1G>C) c.1282-1G>C (n.1282-1G>C) c.485+19324C>G (n.485+19324C>G) c.952-1G>C (n.952-1G>C) c.1267-1G>C (n.1267-1G>C) c.1222-1G>C (n.1222-1G>C) c.1129-1G>C (n.1129-1G>C) | |
9 | g.36223503C>T | CA373428070 | CLTA,GNE | c.1375-1G>A (n.1375-1G>A) c.1105-1G>A (n.1105-1G>A) c.1282-1G>A (n.1282-1G>A) c.485+19324C>T (n.485+19324C>T) c.952-1G>A (n.952-1G>A) c.1267-1G>A (n.1267-1G>A) c.1222-1G>A (n.1222-1G>A) c.1129-1G>A (n.1129-1G>A) | |
9 | g.36223504T>A | CA373428073 | CLTA,GNE | c.1375-2A>T (n.1375-2A>T) c.1105-2A>T (n.1105-2A>T) c.1282-2A>T (n.1282-2A>T) c.485+19325T>A (n.485+19325T>A) c.952-2A>T (n.952-2A>T) c.1267-2A>T (n.1267-2A>T) c.1222-2A>T (n.1222-2A>T) c.1129-2A>T (n.1129-2A>T) | |
9 | g.36223504T>C | CA373428074 | CLTA,GNE | c.1375-2A>G (n.1375-2A>G) c.1105-2A>G (n.1105-2A>G) c.1282-2A>G (n.1282-2A>G) c.485+19325T>C (n.485+19325T>C) c.952-2A>G (n.952-2A>G) c.1267-2A>G (n.1267-2A>G) c.1222-2A>G (n.1222-2A>G) c.1129-2A>G (n.1129-2A>G) | |
9 | g.36223504T>G | CA373428075 | CLTA,GNE | c.1375-2A>C (n.1375-2A>C) c.1105-2A>C (n.1105-2A>C) c.1282-2A>C (n.1282-2A>C) c.485+19325T>G (n.485+19325T>G) c.952-2A>C (n.952-2A>C) c.1267-2A>C (n.1267-2A>C) c.1222-2A>C (n.1222-2A>C) c.1129-2A>C (n.1129-2A>C) | |
9 | g.36223505A>G | CA2689945909 | CLTA,GNE | c.1375-3T>C (n.1375-3T>C) c.1105-3T>C (n.1105-3T>C) c.1282-3T>C (n.1282-3T>C) c.485+19326A>G (n.485+19326A>G) c.952-3T>C (n.952-3T>C) c.1267-3T>C (n.1267-3T>C) c.1222-3T>C (n.1222-3T>C) c.1129-3T>C (n.1129-3T>C) | gnomAD v4 |
9 | g.36223508del | CA2689945910 | CLTA,GNE | c.1375-3del (n.1375-3del) c.1105-3del (n.1105-3del) c.1282-3del (n.1282-3del) c.485+19329del (n.485+19329del) c.952-3del (n.952-3del) c.1267-3del (n.1267-3del) c.1222-3del (n.1222-3del) c.1129-3del (n.1129-3del) | gnomAD v4 |
9 | g.36223519_36223520insCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCCCGCCCCACCCCCAGACCCCCCTAATAAAAAAAAAAGAGAAAACAAC | CA2580616198 | CLTA,GNE | c.1375-3_1375-2insTTTTTTATTAGGGGGGTCTGGGGGTGGGGCGGGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTCTTTT (n.1375-3_1375-2insTTTTTTATTAGGGGGGTCTGGGGGTGGGGCGGGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTCTTTT) c.1105-3_1105-2insTTTTTTATTAGGGGGGTCTGGGGGTGGGGCGGGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTCTTTT (n.1105-3_1105-2insTTTTTTATTAGGGGGGTCTGGGGGTGGGGCGGGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTCTTTT) c.1282-3_1282-2insTTTTTTATTAGGGGGGTCTGGGGGTGGGGCGGGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTCTTTT (n.1282-3_1282-2insTTTTTTATTAGGGGGGTCTGGGGGTGGGGCGGGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTCTTTT) c.485+19340_485+19341insCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCCCGCCCCACCCCCAGACCCCCCTAATAAAAAAAAAAGAGAAAACAAC (n.485+19340_485+19341insCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCCCGCCCCACCCCCAGACCCCCCTAATAAAAAAAAAAGAGAAAACAAC) c.952-3_952-2insTTTTTTATTAGGGGGGTCTGGGGGTGGGGCGGGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTCTTTT (n.952-3_952-2insTTTTTTATTAGGGGGGTCTGGGGGTGGGGCGGGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTCTTTT) c.1267-3_1267-2insTTTTTTATTAGGGGGGTCTGGGGGTGGGGCGGGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTCTTTT (n.1267-3_1267-2insTTTTTTATTAGGGGGGTCTGGGGGTGGGGCGGGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTCTTTT) c.1222-3_1222-2insTTTTTTATTAGGGGGGTCTGGGGGTGGGGCGGGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTCTTTT (n.1222-3_1222-2insTTTTTTATTAGGGGGGTCTGGGGGTGGGGCGGGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTCTTTT) c.1129-3_1129-2insTTTTTTATTAGGGGGGTCTGGGGGTGGGGCGGGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTCTTTT (n.1129-3_1129-2insTTTTTTATTAGGGGGGTCTGGGGGTGGGGCGGGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTTGTTTTCTCTTTT) |