WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.55232604_55232605delinsCT | CA2305006439 | TCF4 | c.1553_1554delinsAG (p.Glu518=) c.1529+1812_1529+1813delinsAG (n.1529+1812_1529+1813delinsAG) n.1233_1234delinsAG c.1481_1482delinsAG (p.Glu494=) c.*1261_*1262delinsAG (n.*1261_*1262delinsAG) c.1163_1164delinsAG (p.Glu388=) c.*1443_*1444delinsAG (n.*1443_*1444delinsAG) c.905_906delinsAG (p.Glu302=) n.1620_1621delinsAG n.1247_1248delinsAG c.1151_1152delinsAG c.1580_1581delinsAG (p.Glu527=) c.*1164_*1165delinsAG (n.*1164_*1165delinsAG) c.1859_1860delinsAG (p.Glu620=) c.1073_1074delinsAG (p.Glu358=) c.1427_1428delinsAG (p.Glu476=) c.1340_1341delinsAG (p.Glu447=) n.1644_1645delinsAG c.1571_1572delinsAG (p.Glu524=) c.1301_1302delinsAG (p.Glu434=) c.1373_1374delinsAG (p.Glu458=) c.1544_1545delinsAG (p.Glu515=) c.1478_1479delinsAG (p.Glu493=) n.588_589delinsAG c.1550_1551delinsAG (p.Glu517=) c.1343_1344delinsAG (p.Glu448=) c.1070_1071delinsAG (p.Glu357=) c.1856_1857delinsAG (p.Glu619=) c.1547_1548delinsAG (p.Glu516=) c.1475_1476delinsAG (p.Glu492=) c.1424_1425delinsAG (p.Glu475=) c.1337_1338delinsAG (p.Glu446=) c.1160_1161delinsAG (p.Glu387=) c.1316_1317delinsAG (p.Glu439=) c.1484_1485delinsAG (p.Glu495=) | |
| 18 | g.55232605del | CA16620713 | TCF4 | c.1553del (p.Glu518GlyfsTer17) c.1529+1812del (n.1529+1812del) n.1233del c.1481del (p.Glu494GlyfsTer17) c.*1261del (n.*1261del) c.1163del (p.Glu388GlyfsTer17) c.*1443del (n.*1443del) c.905del (p.Glu302GlyfsTer17) n.1620del n.1247del c.1151del c.1580del (p.Glu527GlyfsTer17) c.*1164del (n.*1164del) c.1859del (p.Glu620GlyfsTer17) c.1073del (p.Glu358GlyfsTer17) c.1427del (p.Glu476GlyfsTer17) c.1340del (p.Glu447GlyfsTer17) n.1644del c.1571del (p.Glu524GlyfsTer17) c.1301del (p.Glu434GlyfsTer17) c.1373del (p.Glu458GlyfsTer17) c.1544del (p.Glu515GlyfsTer17) c.1478del (p.Glu493GlyfsTer17) n.588del c.1550del (p.Glu517GlyfsTer17) c.1343del (p.Glu448GlyfsTer17) c.1070del (p.Glu357GlyfsTer17) c.1856del (p.Glu619GlyfsTer17) c.1547del (p.Glu516GlyfsTer17) c.1475del (p.Glu492GlyfsTer17) c.1424del (p.Glu475GlyfsTer17) c.1337del (p.Glu446GlyfsTer17) c.1160del (p.Glu387GlyfsTer17) c.1316del (p.Glu439GlyfsTer17) c.1484del (p.Glu495GlyfsTer17) | ClinVar dbSNP |
| 18 | g.55232605T>A | CA300796837 | TCF4 | c.1553A>T (p.Glu518Val) c.1529+1812A>T (n.1529+1812A>T) n.1233A>T c.1481A>T (p.Glu494Val) c.*1261A>T (n.*1261A>T) c.1163A>T (p.Glu388Val) c.*1443A>T (n.*1443A>T) c.905A>T (p.Glu302Val) n.1620A>T n.1247A>T c.1151A>T c.1580A>T (p.Glu527Val) c.*1164A>T (n.*1164A>T) c.1859A>T (p.Glu620Val) c.1073A>T (p.Glu358Val) c.1427A>T (p.Glu476Val) c.1340A>T (p.Glu447Val) n.1644A>T c.1571A>T (p.Glu524Val) c.1301A>T (p.Glu434Val) c.1373A>T (p.Glu458Val) c.1544A>T (p.Glu515Val) c.1478A>T (p.Glu493Val) n.588A>T c.1550A>T (p.Glu517Val) c.1343A>T (p.Glu448Val) c.1070A>T (p.Glu357Val) c.1856A>T (p.Glu619Val) c.1547A>T (p.Glu516Val) c.1475A>T (p.Glu492Val) c.1424A>T (p.Glu475Val) c.1337A>T (p.Glu446Val) c.1160A>T (p.Glu387Val) c.1316A>T (p.Glu439Val) c.1484A>T (p.Glu495Val) | dbSNP |
| 18 | g.55232605T>C | CA402530037 | TCF4 | c.1553A>G (p.Glu518Gly) c.1529+1812A>G (n.1529+1812A>G) n.1233A>G c.1481A>G (p.Glu494Gly) c.*1261A>G (n.*1261A>G) c.1163A>G (p.Glu388Gly) c.*1443A>G (n.*1443A>G) c.905A>G (p.Glu302Gly) n.1620A>G n.1247A>G c.1151A>G c.1580A>G (p.Glu527Gly) c.*1164A>G (n.*1164A>G) c.1859A>G (p.Glu620Gly) c.1073A>G (p.Glu358Gly) c.1427A>G (p.Glu476Gly) c.1340A>G (p.Glu447Gly) n.1644A>G c.1571A>G (p.Glu524Gly) c.1301A>G (p.Glu434Gly) c.1373A>G (p.Glu458Gly) c.1544A>G (p.Glu515Gly) c.1478A>G (p.Glu493Gly) n.588A>G c.1550A>G (p.Glu517Gly) c.1343A>G (p.Glu448Gly) c.1070A>G (p.Glu357Gly) c.1856A>G (p.Glu619Gly) c.1547A>G (p.Glu516Gly) c.1475A>G (p.Glu492Gly) c.1424A>G (p.Glu475Gly) c.1337A>G (p.Glu446Gly) c.1160A>G (p.Glu387Gly) c.1316A>G (p.Glu439Gly) c.1484A>G (p.Glu495Gly) | |
| 18 | g.55232605T>G | CA402530038 | TCF4 | c.1553A>C (p.Glu518Ala) c.1529+1812A>C (n.1529+1812A>C) n.1233A>C c.1481A>C (p.Glu494Ala) c.*1261A>C (n.*1261A>C) c.1163A>C (p.Glu388Ala) c.*1443A>C (n.*1443A>C) c.905A>C (p.Glu302Ala) n.1620A>C n.1247A>C c.1151A>C c.1580A>C (p.Glu527Ala) c.*1164A>C (n.*1164A>C) c.1859A>C (p.Glu620Ala) c.1073A>C (p.Glu358Ala) c.1427A>C (p.Glu476Ala) c.1340A>C (p.Glu447Ala) n.1644A>C c.1571A>C (p.Glu524Ala) c.1301A>C (p.Glu434Ala) c.1373A>C (p.Glu458Ala) c.1544A>C (p.Glu515Ala) c.1478A>C (p.Glu493Ala) n.588A>C c.1550A>C (p.Glu517Ala) c.1343A>C (p.Glu448Ala) c.1070A>C (p.Glu357Ala) c.1856A>C (p.Glu619Ala) c.1547A>C (p.Glu516Ala) c.1475A>C (p.Glu492Ala) c.1424A>C (p.Glu475Ala) c.1337A>C (p.Glu446Ala) c.1160A>C (p.Glu387Ala) c.1316A>C (p.Glu439Ala) c.1484A>C (p.Glu495Ala) | |
| 18 | g.55232605T= | CA2305006440 | TCF4 | c.1553A= (p.Glu518=) c.1529+1812A= (n.1529+1812A=) n.1233A= c.1481A= (p.Glu494=) c.*1261A= (n.*1261A=) c.1163A= (p.Glu388=) c.*1443A= (n.*1443A=) c.905A= (p.Glu302=) n.1620A= n.1247A= c.1151A= c.1580A= (p.Glu527=) c.*1164A= (n.*1164A=) c.1859A= (p.Glu620=) c.1073A= (p.Glu358=) c.1427A= (p.Glu476=) c.1340A= (p.Glu447=) n.1644A= c.1571A= (p.Glu524=) c.1301A= (p.Glu434=) c.1373A= (p.Glu458=) c.1544A= (p.Glu515=) c.1478A= (p.Glu493=) n.588A= c.1550A= (p.Glu517=) c.1343A= (p.Glu448=) c.1070A= (p.Glu357=) c.1856A= (p.Glu619=) c.1547A= (p.Glu516=) c.1475A= (p.Glu492=) c.1424A= (p.Glu475=) c.1337A= (p.Glu446=) c.1160A= (p.Glu387=) c.1316A= (p.Glu439=) c.1484A= (p.Glu495=) | |
| 18 | g.55232606C>A | CA402530041 | TCF4 | c.1552G>T (p.Glu518Ter) c.1529+1811G>T (n.1529+1811G>T) n.1232G>T c.1480G>T (p.Glu494Ter) c.*1260G>T (n.*1260G>T) c.1162G>T (p.Glu388Ter) c.*1442G>T (n.*1442G>T) c.904G>T (p.Glu302Ter) n.1619G>T n.1246G>T c.1150G>T c.1579G>T (p.Glu527Ter) c.*1163G>T (n.*1163G>T) c.1858G>T (p.Glu620Ter) c.1072G>T (p.Glu358Ter) c.1426G>T (p.Glu476Ter) c.1339G>T (p.Glu447Ter) n.1643G>T c.1570G>T (p.Glu524Ter) c.1300G>T (p.Glu434Ter) c.1372G>T (p.Glu458Ter) c.1543G>T (p.Glu515Ter) c.1477G>T (p.Glu493Ter) n.587G>T c.1549G>T (p.Glu517Ter) c.1342G>T (p.Glu448Ter) c.1069G>T (p.Glu357Ter) c.1855G>T (p.Glu619Ter) c.1546G>T (p.Glu516Ter) c.1474G>T (p.Glu492Ter) c.1423G>T (p.Glu475Ter) c.1336G>T (p.Glu446Ter) c.1159G>T (p.Glu387Ter) c.1315G>T (p.Glu439Ter) c.1483G>T (p.Glu495Ter) | ClinVar dbSNP |
| 18 | g.55232606C= | CA2305006441 | TCF4 | c.1552G= (p.Glu518=) c.1529+1811G= (n.1529+1811G=) n.1232G= c.1480G= (p.Glu494=) c.*1260G= (n.*1260G=) c.1162G= (p.Glu388=) c.*1442G= (n.*1442G=) c.904G= (p.Glu302=) n.1619G= n.1246G= c.1150G= c.1579G= (p.Glu527=) c.*1163G= (n.*1163G=) c.1858G= (p.Glu620=) c.1072G= (p.Glu358=) c.1426G= (p.Glu476=) c.1339G= (p.Glu447=) n.1643G= c.1570G= (p.Glu524=) c.1300G= (p.Glu434=) c.1372G= (p.Glu458=) c.1543G= (p.Glu515=) c.1477G= (p.Glu493=) n.587G= c.1549G= (p.Glu517=) c.1342G= (p.Glu448=) c.1069G= (p.Glu357=) c.1855G= (p.Glu619=) c.1546G= (p.Glu516=) c.1474G= (p.Glu492=) c.1423G= (p.Glu475=) c.1336G= (p.Glu446=) c.1159G= (p.Glu387=) c.1315G= (p.Glu439=) c.1483G= (p.Glu495=) | |
| 18 | g.55232606C>G | CA402530039 | TCF4 | c.1552G>C (p.Glu518Gln) c.1529+1811G>C (n.1529+1811G>C) n.1232G>C c.1480G>C (p.Glu494Gln) c.*1260G>C (n.*1260G>C) c.1162G>C (p.Glu388Gln) c.*1442G>C (n.*1442G>C) c.904G>C (p.Glu302Gln) n.1619G>C n.1246G>C c.1150G>C c.1579G>C (p.Glu527Gln) c.*1163G>C (n.*1163G>C) c.1858G>C (p.Glu620Gln) c.1072G>C (p.Glu358Gln) c.1426G>C (p.Glu476Gln) c.1339G>C (p.Glu447Gln) n.1643G>C c.1570G>C (p.Glu524Gln) c.1300G>C (p.Glu434Gln) c.1372G>C (p.Glu458Gln) c.1543G>C (p.Glu515Gln) c.1477G>C (p.Glu493Gln) n.587G>C c.1549G>C (p.Glu517Gln) c.1342G>C (p.Glu448Gln) c.1069G>C (p.Glu357Gln) c.1855G>C (p.Glu619Gln) c.1546G>C (p.Glu516Gln) c.1474G>C (p.Glu492Gln) c.1423G>C (p.Glu475Gln) c.1336G>C (p.Glu446Gln) c.1159G>C (p.Glu387Gln) c.1315G>C (p.Glu439Gln) c.1483G>C (p.Glu495Gln) | |
| 18 | g.55232606C>T | CA402530040 | TCF4 | c.1552G>A (p.Glu518Lys) c.1529+1811G>A (n.1529+1811G>A) n.1232G>A c.1480G>A (p.Glu494Lys) c.*1260G>A (n.*1260G>A) c.1162G>A (p.Glu388Lys) c.*1442G>A (n.*1442G>A) c.904G>A (p.Glu302Lys) n.1619G>A n.1246G>A c.1150G>A c.1579G>A (p.Glu527Lys) c.*1163G>A (n.*1163G>A) c.1858G>A (p.Glu620Lys) c.1072G>A (p.Glu358Lys) c.1426G>A (p.Glu476Lys) c.1339G>A (p.Glu447Lys) n.1643G>A c.1570G>A (p.Glu524Lys) c.1300G>A (p.Glu434Lys) c.1372G>A (p.Glu458Lys) c.1543G>A (p.Glu515Lys) c.1477G>A (p.Glu493Lys) n.587G>A c.1549G>A (p.Glu517Lys) c.1342G>A (p.Glu448Lys) c.1069G>A (p.Glu357Lys) c.1855G>A (p.Glu619Lys) c.1546G>A (p.Glu516Lys) c.1474G>A (p.Glu492Lys) c.1423G>A (p.Glu475Lys) c.1336G>A (p.Glu446Lys) c.1159G>A (p.Glu387Lys) c.1315G>A (p.Glu439Lys) c.1483G>A (p.Glu495Lys) | gnomAD v4 COSMIC COSMIC COSMIC |
| 18 | g.55232607G>A | CA293887 | TCF4 | c.1551C>T (p.Asp517=) c.1529+1810C>T (n.1529+1810C>T) n.1231C>T c.1479C>T (p.Asp493=) c.*1259C>T (n.*1259C>T) c.1161C>T (p.Asp387=) c.*1441C>T (n.*1441C>T) c.903C>T (p.Asp301=) n.1618C>T n.1245C>T c.1149C>T c.1578C>T (p.Asp526=) c.*1162C>T (n.*1162C>T) c.1857C>T (p.Asp619=) c.1071C>T (p.Asp357=) c.1425C>T (p.Asp475=) c.1338C>T (p.Asp446=) n.1642C>T c.1569C>T (p.Asp523=) c.1299C>T (p.Asp433=) c.1371C>T (p.Asp457=) c.1542C>T (p.Asp514=) c.1476C>T (p.Asp492=) n.586C>T c.1548C>T (p.Asp516=) c.1341C>T (p.Asp447=) c.1068C>T (p.Asp356=) c.1854C>T (p.Asp618=) c.1545C>T (p.Asp515=) c.1473C>T (p.Asp491=) c.1422C>T (p.Asp474=) c.1335C>T (p.Asp445=) c.1158C>T (p.Asp386=) c.1314C>T (p.Asp438=) c.1482C>T (p.Asp494=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.55232607G>C | CA402530042 | TCF4 | c.1551C>G (p.Asp517Glu) c.1529+1810C>G (n.1529+1810C>G) n.1231C>G c.1479C>G (p.Asp493Glu) c.*1259C>G (n.*1259C>G) c.1161C>G (p.Asp387Glu) c.*1441C>G (n.*1441C>G) c.903C>G (p.Asp301Glu) n.1618C>G n.1245C>G c.1149C>G c.1578C>G (p.Asp526Glu) c.*1162C>G (n.*1162C>G) c.1857C>G (p.Asp619Glu) c.1071C>G (p.Asp357Glu) c.1425C>G (p.Asp475Glu) c.1338C>G (p.Asp446Glu) n.1642C>G c.1569C>G (p.Asp523Glu) c.1299C>G (p.Asp433Glu) c.1371C>G (p.Asp457Glu) c.1542C>G (p.Asp514Glu) c.1476C>G (p.Asp492Glu) n.586C>G c.1548C>G (p.Asp516Glu) c.1341C>G (p.Asp447Glu) c.1068C>G (p.Asp356Glu) c.1854C>G (p.Asp618Glu) c.1545C>G (p.Asp515Glu) c.1473C>G (p.Asp491Glu) c.1422C>G (p.Asp474Glu) c.1335C>G (p.Asp445Glu) c.1158C>G (p.Asp386Glu) c.1314C>G (p.Asp438Glu) c.1482C>G (p.Asp494Glu) | |
| 18 | g.55232607G= | CA2305006442 | TCF4 | c.1551C= (p.Asp517=) c.1529+1810C= (n.1529+1810C=) n.1231C= c.1479C= (p.Asp493=) c.*1259C= (n.*1259C=) c.1161C= (p.Asp387=) c.*1441C= (n.*1441C=) c.903C= (p.Asp301=) n.1618C= n.1245C= c.1149C= c.1578C= (p.Asp526=) c.*1162C= (n.*1162C=) c.1857C= (p.Asp619=) c.1071C= (p.Asp357=) c.1425C= (p.Asp475=) c.1338C= (p.Asp446=) n.1642C= c.1569C= (p.Asp523=) c.1299C= (p.Asp433=) c.1371C= (p.Asp457=) c.1542C= (p.Asp514=) c.1476C= (p.Asp492=) n.586C= c.1548C= (p.Asp516=) c.1341C= (p.Asp447=) c.1068C= (p.Asp356=) c.1854C= (p.Asp618=) c.1545C= (p.Asp515=) c.1473C= (p.Asp491=) c.1422C= (p.Asp474=) c.1335C= (p.Asp445=) c.1158C= (p.Asp386=) c.1314C= (p.Asp438=) c.1482C= (p.Asp494=) | |
| 18 | g.55232607G>T | CA402530043 | TCF4 | c.1551C>A (p.Asp517Glu) c.1529+1810C>A (n.1529+1810C>A) n.1231C>A c.1479C>A (p.Asp493Glu) c.*1259C>A (n.*1259C>A) c.1161C>A (p.Asp387Glu) c.*1441C>A (n.*1441C>A) c.903C>A (p.Asp301Glu) n.1618C>A n.1245C>A c.1149C>A c.1578C>A (p.Asp526Glu) c.*1162C>A (n.*1162C>A) c.1857C>A (p.Asp619Glu) c.1071C>A (p.Asp357Glu) c.1425C>A (p.Asp475Glu) c.1338C>A (p.Asp446Glu) n.1642C>A c.1569C>A (p.Asp523Glu) c.1299C>A (p.Asp433Glu) c.1371C>A (p.Asp457Glu) c.1542C>A (p.Asp514Glu) c.1476C>A (p.Asp492Glu) n.586C>A c.1548C>A (p.Asp516Glu) c.1341C>A (p.Asp447Glu) c.1068C>A (p.Asp356Glu) c.1854C>A (p.Asp618Glu) c.1545C>A (p.Asp515Glu) c.1473C>A (p.Asp491Glu) c.1422C>A (p.Asp474Glu) c.1335C>A (p.Asp445Glu) c.1158C>A (p.Asp386Glu) c.1314C>A (p.Asp438Glu) c.1482C>A (p.Asp494Glu) | |
| 18 | g.55232608T>A | CA402530044 | TCF4 | c.1550A>T (p.Asp517Val) c.1529+1809A>T (n.1529+1809A>T) n.1230A>T c.1478A>T (p.Asp493Val) c.*1258A>T (n.*1258A>T) c.1160A>T (p.Asp387Val) c.*1440A>T (n.*1440A>T) c.902A>T (p.Asp301Val) n.1617A>T n.1244A>T c.1148A>T c.1577A>T (p.Asp526Val) c.*1161A>T (n.*1161A>T) c.1856A>T (p.Asp619Val) c.1070A>T (p.Asp357Val) c.1424A>T (p.Asp475Val) c.1337A>T (p.Asp446Val) n.1641A>T c.1568A>T (p.Asp523Val) c.1298A>T (p.Asp433Val) c.1370A>T (p.Asp457Val) c.1541A>T (p.Asp514Val) c.1475A>T (p.Asp492Val) n.585A>T c.1547A>T (p.Asp516Val) c.1340A>T (p.Asp447Val) c.1067A>T (p.Asp356Val) c.1853A>T (p.Asp618Val) c.1544A>T (p.Asp515Val) c.1472A>T (p.Asp491Val) c.1421A>T (p.Asp474Val) c.1334A>T (p.Asp445Val) c.1157A>T (p.Asp386Val) c.1313A>T (p.Asp438Val) c.1481A>T (p.Asp494Val) | |
| 18 | g.55232608T>C | CA402530045 | TCF4 | c.1550A>G (p.Asp517Gly) c.1529+1809A>G (n.1529+1809A>G) n.1230A>G c.1478A>G (p.Asp493Gly) c.*1258A>G (n.*1258A>G) c.1160A>G (p.Asp387Gly) c.*1440A>G (n.*1440A>G) c.902A>G (p.Asp301Gly) n.1617A>G n.1244A>G c.1148A>G c.1577A>G (p.Asp526Gly) c.*1161A>G (n.*1161A>G) c.1856A>G (p.Asp619Gly) c.1070A>G (p.Asp357Gly) c.1424A>G (p.Asp475Gly) c.1337A>G (p.Asp446Gly) n.1641A>G c.1568A>G (p.Asp523Gly) c.1298A>G (p.Asp433Gly) c.1370A>G (p.Asp457Gly) c.1541A>G (p.Asp514Gly) c.1475A>G (p.Asp492Gly) n.585A>G c.1547A>G (p.Asp516Gly) c.1340A>G (p.Asp447Gly) c.1067A>G (p.Asp356Gly) c.1853A>G (p.Asp618Gly) c.1544A>G (p.Asp515Gly) c.1472A>G (p.Asp491Gly) c.1421A>G (p.Asp474Gly) c.1334A>G (p.Asp445Gly) c.1157A>G (p.Asp386Gly) c.1313A>G (p.Asp438Gly) c.1481A>G (p.Asp494Gly) | |
| 18 | g.55232608T>G | CA402530046 | TCF4 | c.1550A>C (p.Asp517Ala) c.1529+1809A>C (n.1529+1809A>C) n.1230A>C c.1478A>C (p.Asp493Ala) c.*1258A>C (n.*1258A>C) c.1160A>C (p.Asp387Ala) c.*1440A>C (n.*1440A>C) c.902A>C (p.Asp301Ala) n.1617A>C n.1244A>C c.1148A>C c.1577A>C (p.Asp526Ala) c.*1161A>C (n.*1161A>C) c.1856A>C (p.Asp619Ala) c.1070A>C (p.Asp357Ala) c.1424A>C (p.Asp475Ala) c.1337A>C (p.Asp446Ala) n.1641A>C c.1568A>C (p.Asp523Ala) c.1298A>C (p.Asp433Ala) c.1370A>C (p.Asp457Ala) c.1541A>C (p.Asp514Ala) c.1475A>C (p.Asp492Ala) n.585A>C c.1547A>C (p.Asp516Ala) c.1340A>C (p.Asp447Ala) c.1067A>C (p.Asp356Ala) c.1853A>C (p.Asp618Ala) c.1544A>C (p.Asp515Ala) c.1472A>C (p.Asp491Ala) c.1421A>C (p.Asp474Ala) c.1334A>C (p.Asp445Ala) c.1157A>C (p.Asp386Ala) c.1313A>C (p.Asp438Ala) c.1481A>C (p.Asp494Ala) | |
| 18 | g.55232609C>A | CA402530047 | TCF4 | c.1549G>T (p.Asp517Tyr) c.1529+1808G>T (n.1529+1808G>T) n.1229G>T c.1477G>T (p.Asp493Tyr) c.*1257G>T (n.*1257G>T) c.1159G>T (p.Asp387Tyr) c.*1439G>T (n.*1439G>T) c.901G>T (p.Asp301Tyr) n.1616G>T n.1243G>T c.1147G>T c.1576G>T (p.Asp526Tyr) c.*1160G>T (n.*1160G>T) c.1855G>T (p.Asp619Tyr) c.1069G>T (p.Asp357Tyr) c.1423G>T (p.Asp475Tyr) c.1336G>T (p.Asp446Tyr) n.1640G>T c.1567G>T (p.Asp523Tyr) c.1297G>T (p.Asp433Tyr) c.1369G>T (p.Asp457Tyr) c.1540G>T (p.Asp514Tyr) c.1474G>T (p.Asp492Tyr) n.584G>T c.1546G>T (p.Asp516Tyr) c.1339G>T (p.Asp447Tyr) c.1066G>T (p.Asp356Tyr) c.1852G>T (p.Asp618Tyr) c.1543G>T (p.Asp515Tyr) c.1471G>T (p.Asp491Tyr) c.1420G>T (p.Asp474Tyr) c.1333G>T (p.Asp445Tyr) c.1156G>T (p.Asp386Tyr) c.1312G>T (p.Asp438Tyr) c.1480G>T (p.Asp494Tyr) | |
| 18 | g.55232609C>G | CA402530048 | TCF4 | c.1549G>C (p.Asp517His) c.1529+1808G>C (n.1529+1808G>C) n.1229G>C c.1477G>C (p.Asp493His) c.*1257G>C (n.*1257G>C) c.1159G>C (p.Asp387His) c.*1439G>C (n.*1439G>C) c.901G>C (p.Asp301His) n.1616G>C n.1243G>C c.1147G>C c.1576G>C (p.Asp526His) c.*1160G>C (n.*1160G>C) c.1855G>C (p.Asp619His) c.1069G>C (p.Asp357His) c.1423G>C (p.Asp475His) c.1336G>C (p.Asp446His) n.1640G>C c.1567G>C (p.Asp523His) c.1297G>C (p.Asp433His) c.1369G>C (p.Asp457His) c.1540G>C (p.Asp514His) c.1474G>C (p.Asp492His) n.584G>C c.1546G>C (p.Asp516His) c.1339G>C (p.Asp447His) c.1066G>C (p.Asp356His) c.1852G>C (p.Asp618His) c.1543G>C (p.Asp515His) c.1471G>C (p.Asp491His) c.1420G>C (p.Asp474His) c.1333G>C (p.Asp445His) c.1156G>C (p.Asp386His) c.1312G>C (p.Asp438His) c.1480G>C (p.Asp494His) | |
| 18 | g.55232609C>T | CA402530049 | TCF4 | c.1549G>A (p.Asp517Asn) c.1529+1808G>A (n.1529+1808G>A) n.1229G>A c.1477G>A (p.Asp493Asn) c.*1257G>A (n.*1257G>A) c.1159G>A (p.Asp387Asn) c.*1439G>A (n.*1439G>A) c.901G>A (p.Asp301Asn) n.1616G>A n.1243G>A c.1147G>A c.1576G>A (p.Asp526Asn) c.*1160G>A (n.*1160G>A) c.1855G>A (p.Asp619Asn) c.1069G>A (p.Asp357Asn) c.1423G>A (p.Asp475Asn) c.1336G>A (p.Asp446Asn) n.1640G>A c.1567G>A (p.Asp523Asn) c.1297G>A (p.Asp433Asn) c.1369G>A (p.Asp457Asn) c.1540G>A (p.Asp514Asn) c.1474G>A (p.Asp492Asn) n.584G>A c.1546G>A (p.Asp516Asn) c.1339G>A (p.Asp447Asn) c.1066G>A (p.Asp356Asn) c.1852G>A (p.Asp618Asn) c.1543G>A (p.Asp515Asn) c.1471G>A (p.Asp491Asn) c.1420G>A (p.Asp474Asn) c.1333G>A (p.Asp445Asn) c.1156G>A (p.Asp386Asn) c.1312G>A (p.Asp438Asn) c.1480G>A (p.Asp494Asn) | |
| 18 | g.55232610A= | CA2305006443 | TCF4 | c.1548T= (p.Asp516=) c.1529+1807T= (n.1529+1807T=) n.1228T= c.1476T= (p.Asp492=) c.*1256T= (n.*1256T=) c.1158T= (p.Asp386=) c.*1438T= (n.*1438T=) c.900T= (p.Asp300=) n.1615T= n.1242T= c.1146T= c.1575T= (p.Asp525=) c.*1159T= (n.*1159T=) c.1854T= (p.Asp618=) c.1068T= (p.Asp356=) c.1422T= (p.Asp474=) c.1335T= (p.Asp445=) n.1639T= c.1566T= (p.Asp522=) c.1296T= (p.Asp432=) c.1368T= (p.Asp456=) c.1539T= (p.Asp513=) c.1473T= (p.Asp491=) n.583T= c.1545T= (p.Asp515=) c.1338T= (p.Asp446=) c.1065T= (p.Asp355=) c.1851T= (p.Asp617=) c.1542T= (p.Asp514=) c.1470T= (p.Asp490=) c.1419T= (p.Asp473=) c.1332T= (p.Asp444=) c.1155T= (p.Asp385=) c.1311T= (p.Asp437=) c.1479T= (p.Asp493=) | |
| 18 | g.55232610A>C | CA402530050 | TCF4 | c.1548T>G (p.Asp516Glu) c.1529+1807T>G (n.1529+1807T>G) n.1228T>G c.1476T>G (p.Asp492Glu) c.*1256T>G (n.*1256T>G) c.1158T>G (p.Asp386Glu) c.*1438T>G (n.*1438T>G) c.900T>G (p.Asp300Glu) n.1615T>G n.1242T>G c.1146T>G c.1575T>G (p.Asp525Glu) c.*1159T>G (n.*1159T>G) c.1854T>G (p.Asp618Glu) c.1068T>G (p.Asp356Glu) c.1422T>G (p.Asp474Glu) c.1335T>G (p.Asp445Glu) n.1639T>G c.1566T>G (p.Asp522Glu) c.1296T>G (p.Asp432Glu) c.1368T>G (p.Asp456Glu) c.1539T>G (p.Asp513Glu) c.1473T>G (p.Asp491Glu) n.583T>G c.1545T>G (p.Asp515Glu) c.1338T>G (p.Asp446Glu) c.1065T>G (p.Asp355Glu) c.1851T>G (p.Asp617Glu) c.1542T>G (p.Asp514Glu) c.1470T>G (p.Asp490Glu) c.1419T>G (p.Asp473Glu) c.1332T>G (p.Asp444Glu) c.1155T>G (p.Asp385Glu) c.1311T>G (p.Asp437Glu) c.1479T>G (p.Asp493Glu) | |
| 18 | g.55232610A>G | CA8970171 | TCF4 | c.1548T>C (p.Asp516=) c.1529+1807T>C (n.1529+1807T>C) n.1228T>C c.1476T>C (p.Asp492=) c.*1256T>C (n.*1256T>C) c.1158T>C (p.Asp386=) c.*1438T>C (n.*1438T>C) c.900T>C (p.Asp300=) n.1615T>C n.1242T>C c.1146T>C c.1575T>C (p.Asp525=) c.*1159T>C (n.*1159T>C) c.1854T>C (p.Asp618=) c.1068T>C (p.Asp356=) c.1422T>C (p.Asp474=) c.1335T>C (p.Asp445=) n.1639T>C c.1566T>C (p.Asp522=) c.1296T>C (p.Asp432=) c.1368T>C (p.Asp456=) c.1539T>C (p.Asp513=) c.1473T>C (p.Asp491=) n.583T>C c.1545T>C (p.Asp515=) c.1338T>C (p.Asp446=) c.1065T>C (p.Asp355=) c.1851T>C (p.Asp617=) c.1542T>C (p.Asp514=) c.1470T>C (p.Asp490=) c.1419T>C (p.Asp473=) c.1332T>C (p.Asp444=) c.1155T>C (p.Asp385=) c.1311T>C (p.Asp437=) c.1479T>C (p.Asp493=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.55232610A>T | CA402530051 | TCF4 | c.1548T>A (p.Asp516Glu) c.1529+1807T>A (n.1529+1807T>A) n.1228T>A c.1476T>A (p.Asp492Glu) c.*1256T>A (n.*1256T>A) c.1158T>A (p.Asp386Glu) c.*1438T>A (n.*1438T>A) c.900T>A (p.Asp300Glu) n.1615T>A n.1242T>A c.1146T>A c.1575T>A (p.Asp525Glu) c.*1159T>A (n.*1159T>A) c.1854T>A (p.Asp618Glu) c.1068T>A (p.Asp356Glu) c.1422T>A (p.Asp474Glu) c.1335T>A (p.Asp445Glu) n.1639T>A c.1566T>A (p.Asp522Glu) c.1296T>A (p.Asp432Glu) c.1368T>A (p.Asp456Glu) c.1539T>A (p.Asp513Glu) c.1473T>A (p.Asp491Glu) n.583T>A c.1545T>A (p.Asp515Glu) c.1338T>A (p.Asp446Glu) c.1065T>A (p.Asp355Glu) c.1851T>A (p.Asp617Glu) c.1542T>A (p.Asp514Glu) c.1470T>A (p.Asp490Glu) c.1419T>A (p.Asp473Glu) c.1332T>A (p.Asp444Glu) c.1155T>A (p.Asp385Glu) c.1311T>A (p.Asp437Glu) c.1479T>A (p.Asp493Glu) | |
| 18 | g.55232611T>A | CA402530054 | TCF4 | c.1547A>T (p.Asp516Val) c.1529+1806A>T (n.1529+1806A>T) n.1227A>T c.1475A>T (p.Asp492Val) c.*1255A>T (n.*1255A>T) c.1157A>T (p.Asp386Val) c.*1437A>T (n.*1437A>T) c.899A>T (p.Asp300Val) n.1614A>T n.1241A>T c.1145A>T c.1574A>T (p.Asp525Val) c.*1158A>T (n.*1158A>T) c.1853A>T (p.Asp618Val) c.1067A>T (p.Asp356Val) c.1421A>T (p.Asp474Val) c.1334A>T (p.Asp445Val) n.1638A>T c.1565A>T (p.Asp522Val) c.1295A>T (p.Asp432Val) c.1367A>T (p.Asp456Val) c.1538A>T (p.Asp513Val) c.1472A>T (p.Asp491Val) n.582A>T c.1544A>T (p.Asp515Val) c.1337A>T (p.Asp446Val) c.1064A>T (p.Asp355Val) c.1850A>T (p.Asp617Val) c.1541A>T (p.Asp514Val) c.1469A>T (p.Asp490Val) c.1418A>T (p.Asp473Val) c.1331A>T (p.Asp444Val) c.1154A>T (p.Asp385Val) c.1310A>T (p.Asp437Val) c.1478A>T (p.Asp493Val) | |
| 18 | g.55232611T>C | CA402530053 | TCF4 | c.1547A>G (p.Asp516Gly) c.1529+1806A>G (n.1529+1806A>G) n.1227A>G c.1475A>G (p.Asp492Gly) c.*1255A>G (n.*1255A>G) c.1157A>G (p.Asp386Gly) c.*1437A>G (n.*1437A>G) c.899A>G (p.Asp300Gly) n.1614A>G n.1241A>G c.1145A>G c.1574A>G (p.Asp525Gly) c.*1158A>G (n.*1158A>G) c.1853A>G (p.Asp618Gly) c.1067A>G (p.Asp356Gly) c.1421A>G (p.Asp474Gly) c.1334A>G (p.Asp445Gly) n.1638A>G c.1565A>G (p.Asp522Gly) c.1295A>G (p.Asp432Gly) c.1367A>G (p.Asp456Gly) c.1538A>G (p.Asp513Gly) c.1472A>G (p.Asp491Gly) n.582A>G c.1544A>G (p.Asp515Gly) c.1337A>G (p.Asp446Gly) c.1064A>G (p.Asp355Gly) c.1850A>G (p.Asp617Gly) c.1541A>G (p.Asp514Gly) c.1469A>G (p.Asp490Gly) c.1418A>G (p.Asp473Gly) c.1331A>G (p.Asp444Gly) c.1154A>G (p.Asp385Gly) c.1310A>G (p.Asp437Gly) c.1478A>G (p.Asp493Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.55232611T>G | CA402530052 | TCF4 | c.1547A>C (p.Asp516Ala) c.1529+1806A>C (n.1529+1806A>C) n.1227A>C c.1475A>C (p.Asp492Ala) c.*1255A>C (n.*1255A>C) c.1157A>C (p.Asp386Ala) c.*1437A>C (n.*1437A>C) c.899A>C (p.Asp300Ala) n.1614A>C n.1241A>C c.1145A>C c.1574A>C (p.Asp525Ala) c.*1158A>C (n.*1158A>C) c.1853A>C (p.Asp618Ala) c.1067A>C (p.Asp356Ala) c.1421A>C (p.Asp474Ala) c.1334A>C (p.Asp445Ala) n.1638A>C c.1565A>C (p.Asp522Ala) c.1295A>C (p.Asp432Ala) c.1367A>C (p.Asp456Ala) c.1538A>C (p.Asp513Ala) c.1472A>C (p.Asp491Ala) n.582A>C c.1544A>C (p.Asp515Ala) c.1337A>C (p.Asp446Ala) c.1064A>C (p.Asp355Ala) c.1850A>C (p.Asp617Ala) c.1541A>C (p.Asp514Ala) c.1469A>C (p.Asp490Ala) c.1418A>C (p.Asp473Ala) c.1331A>C (p.Asp444Ala) c.1154A>C (p.Asp385Ala) c.1310A>C (p.Asp437Ala) c.1478A>C (p.Asp493Ala) | |
| 18 | g.55232611T= | CA2305006444 | TCF4 | c.1547A= (p.Asp516=) c.1529+1806A= (n.1529+1806A=) n.1227A= c.1475A= (p.Asp492=) c.*1255A= (n.*1255A=) c.1157A= (p.Asp386=) c.*1437A= (n.*1437A=) c.899A= (p.Asp300=) n.1614A= n.1241A= c.1145A= c.1574A= (p.Asp525=) c.*1158A= (n.*1158A=) c.1853A= (p.Asp618=) c.1067A= (p.Asp356=) c.1421A= (p.Asp474=) c.1334A= (p.Asp445=) n.1638A= c.1565A= (p.Asp522=) c.1295A= (p.Asp432=) c.1367A= (p.Asp456=) c.1538A= (p.Asp513=) c.1472A= (p.Asp491=) n.582A= c.1544A= (p.Asp515=) c.1337A= (p.Asp446=) c.1064A= (p.Asp355=) c.1850A= (p.Asp617=) c.1541A= (p.Asp514=) c.1469A= (p.Asp490=) c.1418A= (p.Asp473=) c.1331A= (p.Asp444=) c.1154A= (p.Asp385=) c.1310A= (p.Asp437=) c.1478A= (p.Asp493=) | |
| 18 | g.55232612C>A | CA402530057 | TCF4 | c.1546G>T (p.Asp516Tyr) c.1529+1805G>T (n.1529+1805G>T) n.1226G>T c.1474G>T (p.Asp492Tyr) c.*1254G>T (n.*1254G>T) c.1156G>T (p.Asp386Tyr) c.*1436G>T (n.*1436G>T) c.898G>T (p.Asp300Tyr) n.1613G>T n.1240G>T c.1144G>T c.1573G>T (p.Asp525Tyr) c.*1157G>T (n.*1157G>T) c.1852G>T (p.Asp618Tyr) c.1066G>T (p.Asp356Tyr) c.1420G>T (p.Asp474Tyr) c.1333G>T (p.Asp445Tyr) n.1637G>T c.1564G>T (p.Asp522Tyr) c.1294G>T (p.Asp432Tyr) c.1366G>T (p.Asp456Tyr) c.1537G>T (p.Asp513Tyr) c.1471G>T (p.Asp491Tyr) n.581G>T c.1543G>T (p.Asp515Tyr) c.1336G>T (p.Asp446Tyr) c.1063G>T (p.Asp355Tyr) c.1849G>T (p.Asp617Tyr) c.1540G>T (p.Asp514Tyr) c.1468G>T (p.Asp490Tyr) c.1417G>T (p.Asp473Tyr) c.1330G>T (p.Asp444Tyr) c.1153G>T (p.Asp385Tyr) c.1309G>T (p.Asp437Tyr) c.1477G>T (p.Asp493Tyr) | |
| 18 | g.55232612C>G | CA402530055 | TCF4 | c.1546G>C (p.Asp516His) c.1529+1805G>C (n.1529+1805G>C) n.1226G>C c.1474G>C (p.Asp492His) c.*1254G>C (n.*1254G>C) c.1156G>C (p.Asp386His) c.*1436G>C (n.*1436G>C) c.898G>C (p.Asp300His) n.1613G>C n.1240G>C c.1144G>C c.1573G>C (p.Asp525His) c.*1157G>C (n.*1157G>C) c.1852G>C (p.Asp618His) c.1066G>C (p.Asp356His) c.1420G>C (p.Asp474His) c.1333G>C (p.Asp445His) n.1637G>C c.1564G>C (p.Asp522His) c.1294G>C (p.Asp432His) c.1366G>C (p.Asp456His) c.1537G>C (p.Asp513His) c.1471G>C (p.Asp491His) n.581G>C c.1543G>C (p.Asp515His) c.1336G>C (p.Asp446His) c.1063G>C (p.Asp355His) c.1849G>C (p.Asp617His) c.1540G>C (p.Asp514His) c.1468G>C (p.Asp490His) c.1417G>C (p.Asp473His) c.1330G>C (p.Asp444His) c.1153G>C (p.Asp385His) c.1309G>C (p.Asp437His) c.1477G>C (p.Asp493His) | |
| 18 | g.55232612C>T | CA402530056 | TCF4 | c.1546G>A (p.Asp516Asn) c.1529+1805G>A (n.1529+1805G>A) n.1226G>A c.1474G>A (p.Asp492Asn) c.*1254G>A (n.*1254G>A) c.1156G>A (p.Asp386Asn) c.*1436G>A (n.*1436G>A) c.898G>A (p.Asp300Asn) n.1613G>A n.1240G>A c.1144G>A c.1573G>A (p.Asp525Asn) c.*1157G>A (n.*1157G>A) c.1852G>A (p.Asp618Asn) c.1066G>A (p.Asp356Asn) c.1420G>A (p.Asp474Asn) c.1333G>A (p.Asp445Asn) n.1637G>A c.1564G>A (p.Asp522Asn) c.1294G>A (p.Asp432Asn) c.1366G>A (p.Asp456Asn) c.1537G>A (p.Asp513Asn) c.1471G>A (p.Asp491Asn) n.581G>A c.1543G>A (p.Asp515Asn) c.1336G>A (p.Asp446Asn) c.1063G>A (p.Asp355Asn) c.1849G>A (p.Asp617Asn) c.1540G>A (p.Asp514Asn) c.1468G>A (p.Asp490Asn) c.1417G>A (p.Asp473Asn) c.1330G>A (p.Asp444Asn) c.1153G>A (p.Asp385Asn) c.1309G>A (p.Asp437Asn) c.1477G>A (p.Asp493Asn) | gnomAD v4 COSMIC COSMIC COSMIC |
| 18 | g.55232613G>A | CA8970172 | TCF4 | c.1545C>T (p.Ser515=) c.1529+1804C>T (n.1529+1804C>T) n.1225C>T c.1473C>T (p.Ser491=) c.*1253C>T (n.*1253C>T) c.1155C>T (p.Ser385=) c.*1435C>T (n.*1435C>T) c.897C>T (p.Ser299=) n.1612C>T n.1239C>T c.1143C>T c.1572C>T (p.Ser524=) c.*1156C>T (n.*1156C>T) c.1851C>T (p.Ser617=) c.1065C>T (p.Ser355=) c.1419C>T (p.Ser473=) c.1332C>T (p.Ser444=) n.1636C>T c.1563C>T (p.Ser521=) c.1293C>T (p.Ser431=) c.1365C>T (p.Ser455=) c.1536C>T (p.Ser512=) c.1470C>T (p.Ser490=) n.580C>T c.1542C>T (p.Ser514=) c.1335C>T (p.Ser445=) c.1062C>T (p.Ser354=) c.1848C>T (p.Ser616=) c.1539C>T (p.Ser513=) c.1467C>T (p.Ser489=) c.1416C>T (p.Ser472=) c.1329C>T (p.Ser443=) c.1152C>T (p.Ser384=) c.1308C>T (p.Ser436=) c.1476C>T (p.Ser492=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.55232613G>C | CA504004389 | TCF4 | c.1545C>G (p.Ser515=) c.1529+1804C>G (n.1529+1804C>G) n.1225C>G c.1473C>G (p.Ser491=) c.*1253C>G (n.*1253C>G) c.1155C>G (p.Ser385=) c.*1435C>G (n.*1435C>G) c.897C>G (p.Ser299=) n.1612C>G n.1239C>G c.1143C>G c.1572C>G (p.Ser524=) c.*1156C>G (n.*1156C>G) c.1851C>G (p.Ser617=) c.1065C>G (p.Ser355=) c.1419C>G (p.Ser473=) c.1332C>G (p.Ser444=) n.1636C>G c.1563C>G (p.Ser521=) c.1293C>G (p.Ser431=) c.1365C>G (p.Ser455=) c.1536C>G (p.Ser512=) c.1470C>G (p.Ser490=) n.580C>G c.1542C>G (p.Ser514=) c.1335C>G (p.Ser445=) c.1062C>G (p.Ser354=) c.1848C>G (p.Ser616=) c.1539C>G (p.Ser513=) c.1467C>G (p.Ser489=) c.1416C>G (p.Ser472=) c.1329C>G (p.Ser443=) c.1152C>G (p.Ser384=) c.1308C>G (p.Ser436=) c.1476C>G (p.Ser492=) | |
| 18 | g.55232613G= | CA2305006445 | TCF4 | c.1545C= (p.Ser515=) c.1529+1804C= (n.1529+1804C=) n.1225C= c.1473C= (p.Ser491=) c.*1253C= (n.*1253C=) c.1155C= (p.Ser385=) c.*1435C= (n.*1435C=) c.897C= (p.Ser299=) n.1612C= n.1239C= c.1143C= c.1572C= (p.Ser524=) c.*1156C= (n.*1156C=) c.1851C= (p.Ser617=) c.1065C= (p.Ser355=) c.1419C= (p.Ser473=) c.1332C= (p.Ser444=) n.1636C= c.1563C= (p.Ser521=) c.1293C= (p.Ser431=) c.1365C= (p.Ser455=) c.1536C= (p.Ser512=) c.1470C= (p.Ser490=) n.580C= c.1542C= (p.Ser514=) c.1335C= (p.Ser445=) c.1062C= (p.Ser354=) c.1848C= (p.Ser616=) c.1539C= (p.Ser513=) c.1467C= (p.Ser489=) c.1416C= (p.Ser472=) c.1329C= (p.Ser443=) c.1152C= (p.Ser384=) c.1308C= (p.Ser436=) c.1476C= (p.Ser492=) | |
| 18 | g.55232613G>T | CA504004390 | TCF4 | c.1545C>A (p.Ser515=) c.1529+1804C>A (n.1529+1804C>A) n.1225C>A c.1473C>A (p.Ser491=) c.*1253C>A (n.*1253C>A) c.1155C>A (p.Ser385=) c.*1435C>A (n.*1435C>A) c.897C>A (p.Ser299=) n.1612C>A n.1239C>A c.1143C>A c.1572C>A (p.Ser524=) c.*1156C>A (n.*1156C>A) c.1851C>A (p.Ser617=) c.1065C>A (p.Ser355=) c.1419C>A (p.Ser473=) c.1332C>A (p.Ser444=) n.1636C>A c.1563C>A (p.Ser521=) c.1293C>A (p.Ser431=) c.1365C>A (p.Ser455=) c.1536C>A (p.Ser512=) c.1470C>A (p.Ser490=) n.580C>A c.1542C>A (p.Ser514=) c.1335C>A (p.Ser445=) c.1062C>A (p.Ser354=) c.1848C>A (p.Ser616=) c.1539C>A (p.Ser513=) c.1467C>A (p.Ser489=) c.1416C>A (p.Ser472=) c.1329C>A (p.Ser443=) c.1152C>A (p.Ser384=) c.1308C>A (p.Ser436=) c.1476C>A (p.Ser492=) | |
| 18 | g.55232614G>A | CA402530058 | TCF4 | c.1544C>T (p.Ser515Phe) c.1529+1803C>T (n.1529+1803C>T) n.1224C>T c.1472C>T (p.Ser491Phe) c.*1252C>T (n.*1252C>T) c.1154C>T (p.Ser385Phe) c.*1434C>T (n.*1434C>T) c.896C>T (p.Ser299Phe) n.1611C>T n.1238C>T c.1142C>T c.1571C>T (p.Ser524Phe) c.*1155C>T (n.*1155C>T) c.1850C>T (p.Ser617Phe) c.1064C>T (p.Ser355Phe) c.1418C>T (p.Ser473Phe) c.1331C>T (p.Ser444Phe) n.1635C>T c.1562C>T (p.Ser521Phe) c.1292C>T (p.Ser431Phe) c.1364C>T (p.Ser455Phe) c.1535C>T (p.Ser512Phe) c.1469C>T (p.Ser490Phe) n.579C>T c.1541C>T (p.Ser514Phe) c.1334C>T (p.Ser445Phe) c.1061C>T (p.Ser354Phe) c.1847C>T (p.Ser616Phe) c.1538C>T (p.Ser513Phe) c.1466C>T (p.Ser489Phe) c.1415C>T (p.Ser472Phe) c.1328C>T (p.Ser443Phe) c.1151C>T (p.Ser384Phe) c.1307C>T (p.Ser436Phe) c.1475C>T (p.Ser492Phe) | COSMIC COSMIC COSMIC |
| 18 | g.55232614G>C | CA402530059 | TCF4 | c.1544C>G (p.Ser515Cys) c.1529+1803C>G (n.1529+1803C>G) n.1224C>G c.1472C>G (p.Ser491Cys) c.*1252C>G (n.*1252C>G) c.1154C>G (p.Ser385Cys) c.*1434C>G (n.*1434C>G) c.896C>G (p.Ser299Cys) n.1611C>G n.1238C>G c.1142C>G c.1571C>G (p.Ser524Cys) c.*1155C>G (n.*1155C>G) c.1850C>G (p.Ser617Cys) c.1064C>G (p.Ser355Cys) c.1418C>G (p.Ser473Cys) c.1331C>G (p.Ser444Cys) n.1635C>G c.1562C>G (p.Ser521Cys) c.1292C>G (p.Ser431Cys) c.1364C>G (p.Ser455Cys) c.1535C>G (p.Ser512Cys) c.1469C>G (p.Ser490Cys) n.579C>G c.1541C>G (p.Ser514Cys) c.1334C>G (p.Ser445Cys) c.1061C>G (p.Ser354Cys) c.1847C>G (p.Ser616Cys) c.1538C>G (p.Ser513Cys) c.1466C>G (p.Ser489Cys) c.1415C>G (p.Ser472Cys) c.1328C>G (p.Ser443Cys) c.1151C>G (p.Ser384Cys) c.1307C>G (p.Ser436Cys) c.1475C>G (p.Ser492Cys) | |
| 18 | g.55232614G>T | CA402530060 | TCF4 | c.1544C>A (p.Ser515Tyr) c.1529+1803C>A (n.1529+1803C>A) n.1224C>A c.1472C>A (p.Ser491Tyr) c.*1252C>A (n.*1252C>A) c.1154C>A (p.Ser385Tyr) c.*1434C>A (n.*1434C>A) c.896C>A (p.Ser299Tyr) n.1611C>A n.1238C>A c.1142C>A c.1571C>A (p.Ser524Tyr) c.*1155C>A (n.*1155C>A) c.1850C>A (p.Ser617Tyr) c.1064C>A (p.Ser355Tyr) c.1418C>A (p.Ser473Tyr) c.1331C>A (p.Ser444Tyr) n.1635C>A c.1562C>A (p.Ser521Tyr) c.1292C>A (p.Ser431Tyr) c.1364C>A (p.Ser455Tyr) c.1535C>A (p.Ser512Tyr) c.1469C>A (p.Ser490Tyr) n.579C>A c.1541C>A (p.Ser514Tyr) c.1334C>A (p.Ser445Tyr) c.1061C>A (p.Ser354Tyr) c.1847C>A (p.Ser616Tyr) c.1538C>A (p.Ser513Tyr) c.1466C>A (p.Ser489Tyr) c.1415C>A (p.Ser472Tyr) c.1328C>A (p.Ser443Tyr) c.1151C>A (p.Ser384Tyr) c.1307C>A (p.Ser436Tyr) c.1475C>A (p.Ser492Tyr) | |
| 18 | g.55232615A>C | CA402530063 | TCF4 | c.1543T>G (p.Ser515Ala) c.1529+1802T>G (n.1529+1802T>G) n.1223T>G c.1471T>G (p.Ser491Ala) c.*1251T>G (n.*1251T>G) c.1153T>G (p.Ser385Ala) c.*1433T>G (n.*1433T>G) c.895T>G (p.Ser299Ala) n.1610T>G n.1237T>G c.1141T>G c.1570T>G (p.Ser524Ala) c.*1154T>G (n.*1154T>G) c.1849T>G (p.Ser617Ala) c.1063T>G (p.Ser355Ala) c.1417T>G (p.Ser473Ala) c.1330T>G (p.Ser444Ala) n.1634T>G c.1561T>G (p.Ser521Ala) c.1291T>G (p.Ser431Ala) c.1363T>G (p.Ser455Ala) c.1534T>G (p.Ser512Ala) c.1468T>G (p.Ser490Ala) n.578T>G c.1540T>G (p.Ser514Ala) c.1333T>G (p.Ser445Ala) c.1060T>G (p.Ser354Ala) c.1846T>G (p.Ser616Ala) c.1537T>G (p.Ser513Ala) c.1465T>G (p.Ser489Ala) c.1414T>G (p.Ser472Ala) c.1327T>G (p.Ser443Ala) c.1150T>G (p.Ser384Ala) c.1306T>G (p.Ser436Ala) c.1474T>G (p.Ser492Ala) | |
| 18 | g.55232615A>G | CA402530061 | TCF4 | c.1543T>C (p.Ser515Pro) c.1529+1802T>C (n.1529+1802T>C) n.1223T>C c.1471T>C (p.Ser491Pro) c.*1251T>C (n.*1251T>C) c.1153T>C (p.Ser385Pro) c.*1433T>C (n.*1433T>C) c.895T>C (p.Ser299Pro) n.1610T>C n.1237T>C c.1141T>C c.1570T>C (p.Ser524Pro) c.*1154T>C (n.*1154T>C) c.1849T>C (p.Ser617Pro) c.1063T>C (p.Ser355Pro) c.1417T>C (p.Ser473Pro) c.1330T>C (p.Ser444Pro) n.1634T>C c.1561T>C (p.Ser521Pro) c.1291T>C (p.Ser431Pro) c.1363T>C (p.Ser455Pro) c.1534T>C (p.Ser512Pro) c.1468T>C (p.Ser490Pro) n.578T>C c.1540T>C (p.Ser514Pro) c.1333T>C (p.Ser445Pro) c.1060T>C (p.Ser354Pro) c.1846T>C (p.Ser616Pro) c.1537T>C (p.Ser513Pro) c.1465T>C (p.Ser489Pro) c.1414T>C (p.Ser472Pro) c.1327T>C (p.Ser443Pro) c.1150T>C (p.Ser384Pro) c.1306T>C (p.Ser436Pro) c.1474T>C (p.Ser492Pro) | |
| 18 | g.55232615A>T | CA402530062 | TCF4 | c.1543T>A (p.Ser515Thr) c.1529+1802T>A (n.1529+1802T>A) n.1223T>A c.1471T>A (p.Ser491Thr) c.*1251T>A (n.*1251T>A) c.1153T>A (p.Ser385Thr) c.*1433T>A (n.*1433T>A) c.895T>A (p.Ser299Thr) n.1610T>A n.1237T>A c.1141T>A c.1570T>A (p.Ser524Thr) c.*1154T>A (n.*1154T>A) c.1849T>A (p.Ser617Thr) c.1063T>A (p.Ser355Thr) c.1417T>A (p.Ser473Thr) c.1330T>A (p.Ser444Thr) n.1634T>A c.1561T>A (p.Ser521Thr) c.1291T>A (p.Ser431Thr) c.1363T>A (p.Ser455Thr) c.1534T>A (p.Ser512Thr) c.1468T>A (p.Ser490Thr) n.578T>A c.1540T>A (p.Ser514Thr) c.1333T>A (p.Ser445Thr) c.1060T>A (p.Ser354Thr) c.1846T>A (p.Ser616Thr) c.1537T>A (p.Ser513Thr) c.1465T>A (p.Ser489Thr) c.1414T>A (p.Ser472Thr) c.1327T>A (p.Ser443Thr) c.1150T>A (p.Ser384Thr) c.1306T>A (p.Ser436Thr) c.1474T>A (p.Ser492Thr) | |
| 18 | g.55232616T>A | CA402530064 | TCF4 | c.1542A>T (p.Lys514Asn) c.1529+1801A>T (n.1529+1801A>T) n.1222A>T c.1470A>T (p.Lys490Asn) c.*1250A>T (n.*1250A>T) c.1152A>T (p.Lys384Asn) c.*1432A>T (n.*1432A>T) c.894A>T (p.Lys298Asn) n.1609A>T n.1236A>T c.1140A>T c.1569A>T (p.Lys523Asn) c.*1153A>T (n.*1153A>T) c.1848A>T (p.Lys616Asn) c.1062A>T (p.Lys354Asn) c.1416A>T (p.Lys472Asn) c.1329A>T (p.Lys443Asn) n.1633A>T c.1560A>T (p.Lys520Asn) c.1290A>T (p.Lys430Asn) c.1362A>T (p.Lys454Asn) c.1533A>T (p.Lys511Asn) c.1467A>T (p.Lys489Asn) n.577A>T c.1539A>T (p.Lys513Asn) c.1332A>T (p.Lys444Asn) c.1059A>T (p.Lys353Asn) c.1845A>T (p.Lys615Asn) c.1536A>T (p.Lys512Asn) c.1464A>T (p.Lys488Asn) c.1413A>T (p.Lys471Asn) c.1326A>T (p.Lys442Asn) c.1149A>T (p.Lys383Asn) c.1305A>T (p.Lys435Asn) c.1473A>T (p.Lys491Asn) | |
| 18 | g.55232616T>C | CA504004391 | TCF4 | c.1542A>G (p.Lys514=) c.1529+1801A>G (n.1529+1801A>G) n.1222A>G c.1470A>G (p.Lys490=) c.*1250A>G (n.*1250A>G) c.1152A>G (p.Lys384=) c.*1432A>G (n.*1432A>G) c.894A>G (p.Lys298=) n.1609A>G n.1236A>G c.1140A>G c.1569A>G (p.Lys523=) c.*1153A>G (n.*1153A>G) c.1848A>G (p.Lys616=) c.1062A>G (p.Lys354=) c.1416A>G (p.Lys472=) c.1329A>G (p.Lys443=) n.1633A>G c.1560A>G (p.Lys520=) c.1290A>G (p.Lys430=) c.1362A>G (p.Lys454=) c.1533A>G (p.Lys511=) c.1467A>G (p.Lys489=) n.577A>G c.1539A>G (p.Lys513=) c.1332A>G (p.Lys444=) c.1059A>G (p.Lys353=) c.1845A>G (p.Lys615=) c.1536A>G (p.Lys512=) c.1464A>G (p.Lys488=) c.1413A>G (p.Lys471=) c.1326A>G (p.Lys442=) c.1149A>G (p.Lys383=) c.1305A>G (p.Lys435=) c.1473A>G (p.Lys491=) | |
| 18 | g.55232616T>G | CA402530065 | TCF4 | c.1542A>C (p.Lys514Asn) c.1529+1801A>C (n.1529+1801A>C) n.1222A>C c.1470A>C (p.Lys490Asn) c.*1250A>C (n.*1250A>C) c.1152A>C (p.Lys384Asn) c.*1432A>C (n.*1432A>C) c.894A>C (p.Lys298Asn) n.1609A>C n.1236A>C c.1140A>C c.1569A>C (p.Lys523Asn) c.*1153A>C (n.*1153A>C) c.1848A>C (p.Lys616Asn) c.1062A>C (p.Lys354Asn) c.1416A>C (p.Lys472Asn) c.1329A>C (p.Lys443Asn) n.1633A>C c.1560A>C (p.Lys520Asn) c.1290A>C (p.Lys430Asn) c.1362A>C (p.Lys454Asn) c.1533A>C (p.Lys511Asn) c.1467A>C (p.Lys489Asn) n.577A>C c.1539A>C (p.Lys513Asn) c.1332A>C (p.Lys444Asn) c.1059A>C (p.Lys353Asn) c.1845A>C (p.Lys615Asn) c.1536A>C (p.Lys512Asn) c.1464A>C (p.Lys488Asn) c.1413A>C (p.Lys471Asn) c.1326A>C (p.Lys442Asn) c.1149A>C (p.Lys383Asn) c.1305A>C (p.Lys435Asn) c.1473A>C (p.Lys491Asn) | |
| 18 | g.55232617T>A | CA402530066 | TCF4 | c.1541A>T (p.Lys514Ile) c.1529+1800A>T (n.1529+1800A>T) n.1221A>T c.1469A>T (p.Lys490Ile) c.*1249A>T (n.*1249A>T) c.1151A>T (p.Lys384Ile) c.*1431A>T (n.*1431A>T) c.893A>T (p.Lys298Ile) n.1608A>T n.1235A>T c.1139A>T c.1568A>T (p.Lys523Ile) c.*1152A>T (n.*1152A>T) c.1847A>T (p.Lys616Ile) c.1061A>T (p.Lys354Ile) c.1415A>T (p.Lys472Ile) c.1328A>T (p.Lys443Ile) n.1632A>T c.1559A>T (p.Lys520Ile) c.1289A>T (p.Lys430Ile) c.1361A>T (p.Lys454Ile) c.1532A>T (p.Lys511Ile) c.1466A>T (p.Lys489Ile) n.576A>T c.1538A>T (p.Lys513Ile) c.1331A>T (p.Lys444Ile) c.1058A>T (p.Lys353Ile) c.1844A>T (p.Lys615Ile) c.1535A>T (p.Lys512Ile) c.1463A>T (p.Lys488Ile) c.1412A>T (p.Lys471Ile) c.1325A>T (p.Lys442Ile) c.1148A>T (p.Lys383Ile) c.1304A>T (p.Lys435Ile) c.1472A>T (p.Lys491Ile) | |
| 18 | g.55232617T>C | CA402530067 | TCF4 | c.1541A>G (p.Lys514Arg) c.1529+1800A>G (n.1529+1800A>G) n.1221A>G c.1469A>G (p.Lys490Arg) c.*1249A>G (n.*1249A>G) c.1151A>G (p.Lys384Arg) c.*1431A>G (n.*1431A>G) c.893A>G (p.Lys298Arg) n.1608A>G n.1235A>G c.1139A>G c.1568A>G (p.Lys523Arg) c.*1152A>G (n.*1152A>G) c.1847A>G (p.Lys616Arg) c.1061A>G (p.Lys354Arg) c.1415A>G (p.Lys472Arg) c.1328A>G (p.Lys443Arg) n.1632A>G c.1559A>G (p.Lys520Arg) c.1289A>G (p.Lys430Arg) c.1361A>G (p.Lys454Arg) c.1532A>G (p.Lys511Arg) c.1466A>G (p.Lys489Arg) n.576A>G c.1538A>G (p.Lys513Arg) c.1331A>G (p.Lys444Arg) c.1058A>G (p.Lys353Arg) c.1844A>G (p.Lys615Arg) c.1535A>G (p.Lys512Arg) c.1463A>G (p.Lys488Arg) c.1412A>G (p.Lys471Arg) c.1325A>G (p.Lys442Arg) c.1148A>G (p.Lys383Arg) c.1304A>G (p.Lys435Arg) c.1472A>G (p.Lys491Arg) | dbSNP |
| 18 | g.55232617T>G | CA402530068 | TCF4 | c.1541A>C (p.Lys514Thr) c.1529+1800A>C (n.1529+1800A>C) n.1221A>C c.1469A>C (p.Lys490Thr) c.*1249A>C (n.*1249A>C) c.1151A>C (p.Lys384Thr) c.*1431A>C (n.*1431A>C) c.893A>C (p.Lys298Thr) n.1608A>C n.1235A>C c.1139A>C c.1568A>C (p.Lys523Thr) c.*1152A>C (n.*1152A>C) c.1847A>C (p.Lys616Thr) c.1061A>C (p.Lys354Thr) c.1415A>C (p.Lys472Thr) c.1328A>C (p.Lys443Thr) n.1632A>C c.1559A>C (p.Lys520Thr) c.1289A>C (p.Lys430Thr) c.1361A>C (p.Lys454Thr) c.1532A>C (p.Lys511Thr) c.1466A>C (p.Lys489Thr) n.576A>C c.1538A>C (p.Lys513Thr) c.1331A>C (p.Lys444Thr) c.1058A>C (p.Lys353Thr) c.1844A>C (p.Lys615Thr) c.1535A>C (p.Lys512Thr) c.1463A>C (p.Lys488Thr) c.1412A>C (p.Lys471Thr) c.1325A>C (p.Lys442Thr) c.1148A>C (p.Lys383Thr) c.1304A>C (p.Lys435Thr) c.1472A>C (p.Lys491Thr) | |
| 18 | g.55232618T>A | CA402530069 | TCF4 | c.1540A>T (p.Lys514Ter) c.1529+1799A>T (n.1529+1799A>T) n.1220A>T c.1468A>T (p.Lys490Ter) c.*1248A>T (n.*1248A>T) c.1150A>T (p.Lys384Ter) c.*1430A>T (n.*1430A>T) c.892A>T (p.Lys298Ter) n.1607A>T n.1234A>T c.1138A>T c.1567A>T (p.Lys523Ter) c.*1151A>T (n.*1151A>T) c.1846A>T (p.Lys616Ter) c.1060A>T (p.Lys354Ter) c.1414A>T (p.Lys472Ter) c.1327A>T (p.Lys443Ter) n.1631A>T c.1558A>T (p.Lys520Ter) c.1288A>T (p.Lys430Ter) c.1360A>T (p.Lys454Ter) c.1531A>T (p.Lys511Ter) c.1465A>T (p.Lys489Ter) n.575A>T c.1537A>T (p.Lys513Ter) c.1330A>T (p.Lys444Ter) c.1057A>T (p.Lys353Ter) c.1843A>T (p.Lys615Ter) c.1534A>T (p.Lys512Ter) c.1462A>T (p.Lys488Ter) c.1411A>T (p.Lys471Ter) c.1324A>T (p.Lys442Ter) c.1147A>T (p.Lys383Ter) c.1303A>T (p.Lys435Ter) c.1471A>T (p.Lys491Ter) | dbSNP |
| 18 | g.55232618T>C | CA402530071 | TCF4 | c.1540A>G (p.Lys514Glu) c.1529+1799A>G (n.1529+1799A>G) n.1220A>G c.1468A>G (p.Lys490Glu) c.*1248A>G (n.*1248A>G) c.1150A>G (p.Lys384Glu) c.*1430A>G (n.*1430A>G) c.892A>G (p.Lys298Glu) n.1607A>G n.1234A>G c.1138A>G c.1567A>G (p.Lys523Glu) c.*1151A>G (n.*1151A>G) c.1846A>G (p.Lys616Glu) c.1060A>G (p.Lys354Glu) c.1414A>G (p.Lys472Glu) c.1327A>G (p.Lys443Glu) n.1631A>G c.1558A>G (p.Lys520Glu) c.1288A>G (p.Lys430Glu) c.1360A>G (p.Lys454Glu) c.1531A>G (p.Lys511Glu) c.1465A>G (p.Lys489Glu) n.575A>G c.1537A>G (p.Lys513Glu) c.1330A>G (p.Lys444Glu) c.1057A>G (p.Lys353Glu) c.1843A>G (p.Lys615Glu) c.1534A>G (p.Lys512Glu) c.1462A>G (p.Lys488Glu) c.1411A>G (p.Lys471Glu) c.1324A>G (p.Lys442Glu) c.1147A>G (p.Lys383Glu) c.1303A>G (p.Lys435Glu) c.1471A>G (p.Lys491Glu) | |
| 18 | g.55232618T>G | CA402530070 | TCF4 | c.1540A>C (p.Lys514Gln) c.1529+1799A>C (n.1529+1799A>C) n.1220A>C c.1468A>C (p.Lys490Gln) c.*1248A>C (n.*1248A>C) c.1150A>C (p.Lys384Gln) c.*1430A>C (n.*1430A>C) c.892A>C (p.Lys298Gln) n.1607A>C n.1234A>C c.1138A>C c.1567A>C (p.Lys523Gln) c.*1151A>C (n.*1151A>C) c.1846A>C (p.Lys616Gln) c.1060A>C (p.Lys354Gln) c.1414A>C (p.Lys472Gln) c.1327A>C (p.Lys443Gln) n.1631A>C c.1558A>C (p.Lys520Gln) c.1288A>C (p.Lys430Gln) c.1360A>C (p.Lys454Gln) c.1531A>C (p.Lys511Gln) c.1465A>C (p.Lys489Gln) n.575A>C c.1537A>C (p.Lys513Gln) c.1330A>C (p.Lys444Gln) c.1057A>C (p.Lys353Gln) c.1843A>C (p.Lys615Gln) c.1534A>C (p.Lys512Gln) c.1462A>C (p.Lys488Gln) c.1411A>C (p.Lys471Gln) c.1324A>C (p.Lys442Gln) c.1147A>C (p.Lys383Gln) c.1303A>C (p.Lys435Gln) c.1471A>C (p.Lys491Gln) |