| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219425699C>A | CA350698515 | DES | n.799C>A n.713C>A c.1325C>A (p.Thr442Asn) n.180C>A c.1322C>A (p.Thr441Asn) c.893C>A (p.Thr298Asn) c.1256C>A (p.Thr419Asn) c.1304C>A (p.Thr435Asn) c.1055C>A (p.Thr352Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.219425699C= | CA1329213115 | DES | n.799C= n.713C= c.1325C= (p.Thr442=) n.180C= c.1322C= (p.Thr441=) c.893C= (p.Thr298=) c.1256C= (p.Thr419=) c.1304C= (p.Thr435=) c.1055C= (p.Thr352=) | |
| 2 | g.219425699C>G | CA350698513 | DES | n.799C>G n.713C>G c.1325C>G (p.Thr442Ser) n.180C>G c.1322C>G (p.Thr441Ser) c.893C>G (p.Thr298Ser) c.1256C>G (p.Thr419Ser) c.1304C>G (p.Thr435Ser) c.1055C>G (p.Thr352Ser) | |
| 2 | g.219425699C>T | CA217036 | DES | n.799C>T n.713C>T c.1325C>T (p.Thr442Ile) n.180C>T c.1322C>T (p.Thr441Ile) c.893C>T (p.Thr298Ile) c.1256C>T (p.Thr419Ile) c.1304C>T (p.Thr435Ile) c.1055C>T (p.Thr352Ile) | ClinVar dbSNP |
| 2 | g.219425700C>A | CA431285581 | DES | n.800C>A n.714C>A c.1326C>A (p.Thr442=) n.181C>A c.1323C>A (p.Thr441=) c.894C>A (p.Thr298=) c.1257C>A (p.Thr419=) c.1305C>A (p.Thr435=) c.1056C>A (p.Thr352=) | gnomAD v4 |
| 2 | g.219425700C>G | CA431285582 | DES | n.800C>G n.714C>G c.1326C>G (p.Thr442=) n.181C>G c.1323C>G (p.Thr441=) c.894C>G (p.Thr298=) c.1257C>G (p.Thr419=) c.1305C>G (p.Thr435=) c.1056C>G (p.Thr352=) | gnomAD v4 COSMIC |
| 2 | g.219425700C>T | CA431285583 | DES | n.800C>T n.714C>T c.1326C>T (p.Thr442=) n.181C>T c.1323C>T (p.Thr441=) c.894C>T (p.Thr298=) c.1257C>T (p.Thr419=) c.1305C>T (p.Thr435=) c.1056C>T (p.Thr352=) | |
| 2 | g.219425701A>C | CA350698520 | DES | n.801A>C n.715A>C c.1327A>C (p.Lys443Gln) n.182A>C c.1324A>C (p.Lys442Gln) c.895A>C (p.Lys299Gln) c.1258A>C (p.Lys420Gln) c.1306A>C (p.Lys436Gln) c.1057A>C (p.Lys353Gln) | |
| 2 | g.219425701A>G | CA350698523 | DES | n.801A>G n.715A>G c.1327A>G (p.Lys443Glu) n.182A>G c.1324A>G (p.Lys442Glu) c.895A>G (p.Lys299Glu) c.1258A>G (p.Lys420Glu) c.1306A>G (p.Lys436Glu) c.1057A>G (p.Lys353Glu) | gnomAD v4 |
| 2 | g.219425701A>T | CA350698522 | DES | n.801A>T n.715A>T c.1327A>T (p.Lys443Ter) n.182A>T c.1324A>T (p.Lys442Ter) c.895A>T (p.Lys299Ter) c.1258A>T (p.Lys420Ter) c.1306A>T (p.Lys436Ter) c.1057A>T (p.Lys353Ter) | |
| 2 | g.219425702A= | CA1329213116 | DES | n.802A= n.716A= c.1328A= (p.Lys443=) n.183A= c.1325A= (p.Lys442=) c.896A= (p.Lys299=) c.1259A= (p.Lys420=) c.1307A= (p.Lys436=) c.1058A= (p.Lys353=) | |
| 2 | g.219425702A>C | CA350698526 | DES | n.802A>C n.716A>C c.1328A>C (p.Lys443Thr) n.183A>C c.1325A>C (p.Lys442Thr) c.896A>C (p.Lys299Thr) c.1259A>C (p.Lys420Thr) c.1307A>C (p.Lys436Thr) c.1058A>C (p.Lys353Thr) | |
| 2 | g.219425702A>G | CA350698530 | DES | n.802A>G n.716A>G c.1328A>G (p.Lys443Arg) n.183A>G c.1325A>G (p.Lys442Arg) c.896A>G (p.Lys299Arg) c.1259A>G (p.Lys420Arg) c.1307A>G (p.Lys436Arg) c.1058A>G (p.Lys353Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.219425702A>T | CA350698534 | DES | n.802A>T n.716A>T c.1328A>T (p.Lys443Met) n.183A>T c.1325A>T (p.Lys442Met) c.896A>T (p.Lys299Met) c.1259A>T (p.Lys420Met) c.1307A>T (p.Lys436Met) c.1058A>T (p.Lys353Met) | |
| 2 | g.219425703G>A | CA431285584 | DES | n.803G>A n.717G>A c.1329G>A (p.Lys443=) n.184G>A c.1326G>A (p.Lys442=) c.897G>A (p.Lys299=) c.1260G>A (p.Lys420=) c.1308G>A (p.Lys436=) c.1059G>A (p.Lys353=) | dbSNP gnomAD v2 |
| 2 | g.219425703G>C | CA350698537 | DES | n.803G>C n.717G>C c.1329G>C (p.Lys443Asn) n.184G>C c.1326G>C (p.Lys442Asn) c.897G>C (p.Lys299Asn) c.1260G>C (p.Lys420Asn) c.1308G>C (p.Lys436Asn) c.1059G>C (p.Lys353Asn) | |
| 2 | g.219425703G= | CA1329213117 | DES | n.803G= n.717G= c.1329G= (p.Lys443=) n.184G= c.1326G= (p.Lys442=) c.897G= (p.Lys299=) c.1260G= (p.Lys420=) c.1308G= (p.Lys436=) c.1059G= (p.Lys353=) | |
| 2 | g.219425703G>T | CA350698538 | DES | n.803G>T n.717G>T c.1329G>T (p.Lys443Asn) n.184G>T c.1326G>T (p.Lys442Asn) c.897G>T (p.Lys299Asn) c.1260G>T (p.Lys420Asn) c.1308G>T (p.Lys436Asn) c.1059G>T (p.Lys353Asn) | |
| 2 | g.219425704A>C | CA350698544 | DES | n.804A>C n.718A>C c.1330A>C (p.Lys444Gln) n.185A>C c.1327A>C (p.Lys443Gln) c.898A>C (p.Lys300Gln) c.1261A>C (p.Lys421Gln) c.1309A>C (p.Lys437Gln) c.1060A>C (p.Lys354Gln) | |
| 2 | g.219425704A>G | CA350698545 | DES | n.804A>G n.718A>G c.1330A>G (p.Lys444Glu) n.185A>G c.1327A>G (p.Lys443Glu) c.898A>G (p.Lys300Glu) c.1261A>G (p.Lys421Glu) c.1309A>G (p.Lys437Glu) c.1060A>G (p.Lys354Glu) | |
| 2 | g.219425704A>T | CA350698548 | DES | n.804A>T n.718A>T c.1330A>T (p.Lys444Ter) n.185A>T c.1327A>T (p.Lys443Ter) c.898A>T (p.Lys300Ter) c.1261A>T (p.Lys421Ter) c.1309A>T (p.Lys437Ter) c.1060A>T (p.Lys354Ter) | |
| 2 | g.219425705A>C | CA350698553 | DES | n.805A>C n.719A>C c.1331A>C (p.Lys444Thr) n.186A>C c.1328A>C (p.Lys443Thr) c.899A>C (p.Lys300Thr) c.1262A>C (p.Lys421Thr) c.1310A>C (p.Lys437Thr) c.1061A>C (p.Lys354Thr) | COSMIC |
| 2 | g.219425705A>G | CA350698556 | DES | n.805A>G n.719A>G c.1331A>G (p.Lys444Arg) n.186A>G c.1328A>G (p.Lys443Arg) c.899A>G (p.Lys300Arg) c.1262A>G (p.Lys421Arg) c.1310A>G (p.Lys437Arg) c.1061A>G (p.Lys354Arg) | |
| 2 | g.219425705A>T | CA350698559 | DES | n.805A>T n.719A>T c.1331A>T (p.Lys444Met) n.186A>T c.1328A>T (p.Lys443Met) c.899A>T (p.Lys300Met) c.1262A>T (p.Lys421Met) c.1310A>T (p.Lys437Met) c.1061A>T (p.Lys354Met) | |
| 2 | g.219425705_219425709delinsAGACG | CA1329213118 | DES | n.805_809delinsAGACG n.719_723delinsAGACG c.1331_1335delinsAGACG (p.Lys444=) n.186_190delinsAGACG c.1328_1332delinsAGACG (p.Lys443=) c.899_903delinsAGACG (p.Lys300=) c.1262_1266delinsAGACG (p.Lys421=) c.1310_1314delinsAGACG (p.Lys437=) c.1061_1065delinsAGACG (p.Lys354=) | |
| 2 | g.219425706G>A | CA431285585 | DES | n.806G>A n.720G>A c.1332G>A (p.Lys444=) n.187G>A c.1329G>A (p.Lys443=) c.900G>A (p.Lys300=) c.1263G>A (p.Lys421=) c.1311G>A (p.Lys437=) c.1062G>A (p.Lys354=) | gnomAD v4 |
| 2 | g.219425706G>C | CA350698562 | DES | n.806G>C n.720G>C c.1332G>C (p.Lys444Asn) n.187G>C c.1329G>C (p.Lys443Asn) c.900G>C (p.Lys300Asn) c.1263G>C (p.Lys421Asn) c.1311G>C (p.Lys437Asn) c.1062G>C (p.Lys354Asn) | |
| 2 | g.219425706G>T | CA350698565 | DES | n.806G>T n.720G>T c.1332G>T (p.Lys444Asn) n.187G>T c.1329G>T (p.Lys443Asn) c.900G>T (p.Lys300Asn) c.1263G>T (p.Lys421Asn) c.1311G>T (p.Lys437Asn) c.1062G>T (p.Lys354Asn) | |
| 2 | g.219425707_219425710del | CA645369282 | DES | n.807_810del n.721_724del c.1333_1336del (p.Thr445Ter) n.188_191del c.1330_1333del (p.Thr444Ter) c.901_904del (p.Thr301Ter) c.1264_1267del (p.Thr422Ter) c.1312_1315del (p.Thr438Ter) c.1063_1066del (p.Thr355Ter) | ClinVar dbSNP |
| 2 | g.219425707A= | CA1329213119 | DES | n.807A= n.721A= c.1333A= (p.Thr445=) n.188A= c.1330A= (p.Thr444=) c.901A= (p.Thr301=) c.1264A= (p.Thr422=) c.1312A= (p.Thr438=) c.1063A= (p.Thr355=) | |
| 2 | g.219425707A>C | CA350698567 | DES | n.807A>C n.721A>C c.1333A>C (p.Thr445Pro) n.188A>C c.1330A>C (p.Thr444Pro) c.901A>C (p.Thr301Pro) c.1264A>C (p.Thr422Pro) c.1312A>C (p.Thr438Pro) c.1063A>C (p.Thr355Pro) | |
| 2 | g.219425707A>G | CA284676 | DES | n.807A>G n.721A>G c.1333A>G (p.Thr445Ala) n.188A>G c.1330A>G (p.Thr444Ala) c.901A>G (p.Thr301Ala) c.1264A>G (p.Thr422Ala) c.1312A>G (p.Thr438Ala) c.1063A>G (p.Thr355Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.219425707A>T | CA350698569 | DES | n.807A>T n.721A>T c.1333A>T (p.Thr445Ser) n.188A>T c.1330A>T (p.Thr444Ser) c.901A>T (p.Thr301Ser) c.1264A>T (p.Thr422Ser) c.1312A>T (p.Thr438Ser) c.1063A>T (p.Thr355Ser) | |
| 2 | g.219425708C>A | CA350698576 | DES | n.808C>A n.722C>A c.1334C>A (p.Thr445Lys) n.189C>A c.1331C>A (p.Thr444Lys) c.902C>A (p.Thr301Lys) c.1265C>A (p.Thr422Lys) c.1313C>A (p.Thr438Lys) c.1064C>A (p.Thr355Lys) | gnomAD v4 |
| 2 | g.219425708C= | CA1329213120 | DES | n.808C= n.722C= c.1334C= (p.Thr445=) n.189C= c.1331C= (p.Thr444=) c.902C= (p.Thr301=) c.1265C= (p.Thr422=) c.1313C= (p.Thr438=) c.1064C= (p.Thr355=) | |
| 2 | g.219425708C>G | CA350698578 | DES | n.808C>G n.722C>G c.1334C>G (p.Thr445Arg) n.189C>G c.1331C>G (p.Thr444Arg) c.902C>G (p.Thr301Arg) c.1265C>G (p.Thr422Arg) c.1313C>G (p.Thr438Arg) c.1064C>G (p.Thr355Arg) | |
| 2 | g.219425708C>T | CA2125303 | DES | n.808C>T n.722C>T c.1334C>T (p.Thr445Met) n.189C>T c.1331C>T (p.Thr444Met) c.902C>T (p.Thr301Met) c.1265C>T (p.Thr422Met) c.1313C>T (p.Thr438Met) c.1064C>T (p.Thr355Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.219425709G>A | CA2125304 | DES | n.809G>A n.723G>A c.1335G>A (p.Thr445=) n.190G>A c.1332G>A (p.Thr444=) c.903G>A (p.Thr301=) c.1266G>A (p.Thr422=) c.1314G>A (p.Thr438=) c.1065G>A (p.Thr355=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.219425709G>C | CA431285586 | DES | n.809G>C n.723G>C c.1335G>C (p.Thr445=) n.190G>C c.1332G>C (p.Thr444=) c.903G>C (p.Thr301=) c.1266G>C (p.Thr422=) c.1314G>C (p.Thr438=) c.1065G>C (p.Thr355=) | |
| 2 | g.219425709G= | CA1329213121 | DES | n.809G= n.723G= c.1335G= (p.Thr445=) n.190G= c.1332G= (p.Thr444=) c.903G= (p.Thr301=) c.1266G= (p.Thr422=) c.1314G= (p.Thr438=) c.1065G= (p.Thr355=) | |
| 2 | g.219425709G>T | CA431285587 | DES | n.809G>T n.723G>T c.1335G>T (p.Thr445=) n.190G>T c.1332G>T (p.Thr444=) c.903G>T (p.Thr301=) c.1266G>T (p.Thr422=) c.1314G>T (p.Thr438=) c.1065G>T (p.Thr355=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.219425710G>A | CA350698588 | DES | n.810G>A n.724G>A c.1336G>A (p.Val446Met) n.191G>A c.1333G>A (p.Val445Met) c.904G>A (p.Val302Met) c.1267G>A (p.Val423Met) c.1315G>A (p.Val439Met) c.1066G>A (p.Val356Met) | |
| 2 | g.219425710G>C | CA350698590 | DES | n.810G>C n.724G>C c.1336G>C (p.Val446Leu) n.191G>C c.1333G>C (p.Val445Leu) c.904G>C (p.Val302Leu) c.1267G>C (p.Val423Leu) c.1315G>C (p.Val439Leu) c.1066G>C (p.Val356Leu) | |
| 2 | g.219425710G>T | CA350698595 | DES | n.810G>T n.724G>T c.1336G>T (p.Val446Leu) n.191G>T c.1333G>T (p.Val445Leu) c.904G>T (p.Val302Leu) c.1267G>T (p.Val423Leu) c.1315G>T (p.Val439Leu) c.1066G>T (p.Val356Leu) | gnomAD v4 |
| 2 | g.219425711T>A | CA350698598 | DES | n.811T>A n.725T>A c.1337T>A (p.Val446Glu) n.192T>A c.1334T>A (p.Val445Glu) c.905T>A (p.Val302Glu) c.1268T>A (p.Val423Glu) c.1316T>A (p.Val439Glu) c.1067T>A (p.Val356Glu) | gnomAD v4 |
| 2 | g.219425711T>C | CA350698603 | DES | n.811T>C n.725T>C c.1337T>C (p.Val446Ala) n.192T>C c.1334T>C (p.Val445Ala) c.905T>C (p.Val302Ala) c.1268T>C (p.Val423Ala) c.1316T>C (p.Val439Ala) c.1067T>C (p.Val356Ala) | |
| 2 | g.219425711T>G | CA350698606 | DES | n.811T>G n.725T>G c.1337T>G (p.Val446Gly) n.192T>G c.1334T>G (p.Val445Gly) c.905T>G (p.Val302Gly) c.1268T>G (p.Val423Gly) c.1316T>G (p.Val439Gly) c.1067T>G (p.Val356Gly) | |
| 2 | g.219425712G>A | CA431285588 | DES | n.812G>A n.726G>A c.1338G>A (p.Val446=) n.193G>A c.1335G>A (p.Val445=) c.906G>A (p.Val302=) c.1269G>A (p.Val423=) c.1317G>A (p.Val439=) c.1068G>A (p.Val356=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.219425712G>C | CA431285589 | DES | n.812G>C n.726G>C c.1338G>C (p.Val446=) n.193G>C c.1335G>C (p.Val445=) c.906G>C (p.Val302=) c.1269G>C (p.Val423=) c.1317G>C (p.Val439=) c.1068G>C (p.Val356=) | |
| 2 | g.219425712G= | CA1329213122 | DES | n.812G= n.726G= c.1338G= (p.Val446=) n.193G= c.1335G= (p.Val445=) c.906G= (p.Val302=) c.1269G= (p.Val423=) c.1317G= (p.Val439=) c.1068G= (p.Val356=) |