| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.68822036_68822038del | CA645580183 | CDH1 | c.1747_1749del (p.Leu583del) c.1564_1566del (p.Leu522del) n.1818_1820del c.*413_*415del (n.*413_*415del) c.1601_1603del (p.Ala534del) c.1810_1812del (p.Leu604del) c.1012_1014del (p.Leu338del) c.199_201del (p.Leu67del) c.-219_-217del (n.-219_-217del) | dbSNP COSMIC |
| 16 | g.68822038G>A | CA496392527 | CDH1 | c.1749G>A (p.Leu583=) c.1566G>A (p.Leu522=) n.1820G>A c.*415G>A (n.*415G>A) c.1603G>A (p.Asp535Asn) c.1812G>A (p.Leu604=) c.1014G>A (p.Leu338=) c.201G>A (p.Leu67=) c.-217G>A (n.-217G>A) | ClinVar dbSNP |
| 16 | g.68822038G>C | CA496392528 | CDH1 | c.1749G>C (p.Leu583=) c.1566G>C (p.Leu522=) n.1820G>C c.*415G>C (n.*415G>C) c.1603G>C (p.Asp535His) c.1812G>C (p.Leu604=) c.1014G>C (p.Leu338=) c.201G>C (p.Leu67=) c.-217G>C (n.-217G>C) | dbSNP |
| 16 | g.68822038G= | CA2229980353 | CDH1 | c.1749G= (p.Leu583=) c.1566G= (p.Leu522=) n.1820G= c.*415G= (n.*415G=) c.1603G= (p.Asp535=) c.1812G= (p.Leu604=) c.1014G= (p.Leu338=) c.201G= (p.Leu67=) c.-217G= (n.-217G=) | |
| 16 | g.68822038G>T | CA496392529 | CDH1 | c.1749G>T (p.Leu583=) c.1566G>T (p.Leu522=) n.1820G>T c.*415G>T (n.*415G>T) c.1603G>T (p.Asp535Tyr) c.1812G>T (p.Leu604=) c.1014G>T (p.Leu338=) c.201G>T (p.Leu67=) c.-217G>T (n.-217G>T) | |
| 16 | g.68822039A>C | CA396466426 | CDH1 | c.1750A>C (p.Ile584Leu) c.1567A>C (p.Ile523Leu) n.1821A>C c.*416A>C (n.*416A>C) c.1604A>C (p.Asp535Ala) c.1813A>C (p.Ile605Leu) c.1015A>C (p.Ile339Leu) c.202A>C (p.Ile68Leu) c.-216A>C (n.-216A>C) | |
| 16 | g.68822039A>G | CA396466427 | CDH1 | c.1750A>G (p.Ile584Val) c.1567A>G (p.Ile523Val) n.1821A>G c.*416A>G (n.*416A>G) c.1604A>G (p.Asp535Gly) c.1813A>G (p.Ile605Val) c.1015A>G (p.Ile339Val) c.202A>G (p.Ile68Val) c.-216A>G (n.-216A>G) | dbSNP |
| 16 | g.68822039A>T | CA396466429 | CDH1 | c.1750A>T (p.Ile584Phe) c.1567A>T (p.Ile523Phe) n.1821A>T c.*416A>T (n.*416A>T) c.1604A>T (p.Asp535Val) c.1813A>T (p.Ile605Phe) c.1015A>T (p.Ile339Phe) c.202A>T (p.Ile68Phe) c.-216A>T (n.-216A>T) | dbSNP |
| 16 | g.68822040T>A | CA396466432 | CDH1 | c.1751T>A (p.Ile584Asn) c.1568T>A (p.Ile523Asn) n.1822T>A c.*417T>A (n.*417T>A) c.1605T>A (p.Asp535Glu) c.1814T>A (p.Ile605Asn) c.1016T>A (p.Ile339Asn) c.203T>A (p.Ile68Asn) c.-215T>A (n.-215T>A) | ClinVar dbSNP |
| 16 | g.68822040T>C | CA396466434 | CDH1 | c.1751T>C (p.Ile584Thr) c.1568T>C (p.Ile523Thr) n.1822T>C c.*417T>C (n.*417T>C) c.1605T>C (p.Asp535=) c.1814T>C (p.Ile605Thr) c.1016T>C (p.Ile339Thr) c.203T>C (p.Ile68Thr) c.-215T>C (n.-215T>C) | |
| 16 | g.68822040T>G | CA396466439 | CDH1 | c.1751T>G (p.Ile584Ser) c.1568T>G (p.Ile523Ser) n.1822T>G c.*417T>G (n.*417T>G) c.1605T>G (p.Asp535Glu) c.1814T>G (p.Ile605Ser) c.1016T>G (p.Ile339Ser) c.203T>G (p.Ile68Ser) c.-215T>G (n.-215T>G) | |
| 16 | g.68822041C>A | CA496392530 | CDH1 | c.1752C>A (p.Ile584=) c.1569C>A (p.Ile523=) n.1823C>A c.*418C>A (n.*418C>A) c.1606C>A (p.Pro536Thr) c.1815C>A (p.Ile605=) c.1017C>A (p.Ile339=) c.204C>A (p.Ile68=) c.-214C>A (n.-214C>A) | dbSNP |
| 16 | g.68822041C= | CA2229980360 | CDH1 | c.1752C= (p.Ile584=) c.1569C= (p.Ile523=) n.1823C= c.*418C= (n.*418C=) c.1606C= (p.Pro536=) c.1815C= (p.Ile605=) c.1017C= (p.Ile339=) c.204C= (p.Ile68=) c.-214C= (n.-214C=) | |
| 16 | g.68822041C>G | CA396466442 | CDH1 | c.1752C>G (p.Ile584Met) c.1569C>G (p.Ile523Met) n.1823C>G c.*418C>G (n.*418C>G) c.1606C>G (p.Pro536Ala) c.1815C>G (p.Ile605Met) c.1017C>G (p.Ile339Met) c.204C>G (p.Ile68Met) c.-214C>G (n.-214C>G) | dbSNP |
| 16 | g.68822041C>T | CA8130146 | CDH1 | c.1752C>T (p.Ile584=) c.1569C>T (p.Ile523=) n.1823C>T c.*418C>T (n.*418C>T) c.1606C>T (p.Pro536Ser) c.1815C>T (p.Ile605=) c.1017C>T (p.Ile339=) c.204C>T (p.Ile68=) c.-214C>T (n.-214C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.68822042C>A | CA396466447 | CDH1 | c.1753C>A (p.Leu585Met) c.1570C>A (p.Leu524Met) n.1824C>A c.*419C>A (n.*419C>A) c.1607C>A (p.Pro536His) c.1816C>A (p.Leu606Met) c.1018C>A (p.Leu340Met) c.205C>A (p.Leu69Met) c.-213C>A (n.-213C>A) | |
| 16 | g.68822042C>G | CA396466448 | CDH1 | c.1753C>G (p.Leu585Val) c.1570C>G (p.Leu524Val) n.1824C>G c.*419C>G (n.*419C>G) c.1607C>G (p.Pro536Arg) c.1816C>G (p.Leu606Val) c.1018C>G (p.Leu340Val) c.205C>G (p.Leu69Val) c.-213C>G (n.-213C>G) | ClinVar dbSNP gnomAD v4 |
| 16 | g.68822042C>T | CA496392531 | CDH1 | c.1753C>T (p.Leu585=) c.1570C>T (p.Leu524=) n.1824C>T c.*419C>T (n.*419C>T) c.1607C>T (p.Pro536Leu) c.1816C>T (p.Leu606=) c.1018C>T (p.Leu340=) c.205C>T (p.Leu69=) c.-213C>T (n.-213C>T) | ClinVar dbSNP |
| 16 | g.68822043T>A | CA396466461 | CDH1 | c.1754T>A (p.Leu585Gln) c.1571T>A (p.Leu524Gln) n.1825T>A c.*420T>A (n.*420T>A) c.1608T>A (p.Pro536=) c.1817T>A (p.Leu606Gln) c.1019T>A (p.Leu340Gln) c.206T>A (p.Leu69Gln) c.-212T>A (n.-212T>A) | ClinVar dbSNP COSMIC |
| 16 | g.68822043T>C | CA396466450 | CDH1 | c.1754T>C (p.Leu585Pro) c.1571T>C (p.Leu524Pro) n.1825T>C c.*420T>C (n.*420T>C) c.1608T>C (p.Pro536=) c.1817T>C (p.Leu606Pro) c.1019T>C (p.Leu340Pro) c.206T>C (p.Leu69Pro) c.-212T>C (n.-212T>C) | ClinVar dbSNP |
| 16 | g.68822043T>G | CA396466459 | CDH1 | c.1754T>G (p.Leu585Arg) c.1571T>G (p.Leu524Arg) n.1825T>G c.*420T>G (n.*420T>G) c.1608T>G (p.Pro536=) c.1817T>G (p.Leu606Arg) c.1019T>G (p.Leu340Arg) c.206T>G (p.Leu69Arg) c.-212T>G (n.-212T>G) | |
| 16 | g.68822043T= | CA2229980369 | CDH1 | c.1754T= (p.Leu585=) c.1571T= (p.Leu524=) n.1825T= c.*420T= (n.*420T=) c.1608T= (p.Pro536=) c.1817T= (p.Leu606=) c.1019T= (p.Leu340=) c.206T= (p.Leu69=) c.-212T= (n.-212T=) | |
| 16 | g.68822044G>A | CA496392532 | CDH1 | c.1755G>A (p.Leu585=) c.1572G>A (p.Leu524=) n.1826G>A c.*421G>A (n.*421G>A) c.1609G>A (p.Val537Ile) c.1818G>A (p.Leu606=) c.1020G>A (p.Leu340=) c.207G>A (p.Leu69=) c.-211G>A (n.-211G>A) | dbSNP |
| 16 | g.68822044G>C | CA496392533 | CDH1 | c.1755G>C (p.Leu585=) c.1572G>C (p.Leu524=) n.1826G>C c.*421G>C (n.*421G>C) c.1609G>C (p.Val537Leu) c.1818G>C (p.Leu606=) c.1020G>C (p.Leu340=) c.207G>C (p.Leu69=) c.-211G>C (n.-211G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.68822044G= | CA2229980377 | CDH1 | c.1755G= (p.Leu585=) c.1572G= (p.Leu524=) n.1826G= c.*421G= (n.*421G=) c.1609G= (p.Val537=) c.1818G= (p.Leu606=) c.1020G= (p.Leu340=) c.207G= (p.Leu69=) c.-211G= (n.-211G=) | |
| 16 | g.68822044G>T | CA496392534 | CDH1 | c.1755G>T (p.Leu585=) c.1572G>T (p.Leu524=) n.1826G>T c.*421G>T (n.*421G>T) c.1609G>T (p.Val537Phe) c.1818G>T (p.Leu606=) c.1020G>T (p.Leu340=) c.207G>T (p.Leu69=) c.-211G>T (n.-211G>T) | |
| 16 | g.68822045T>A | CA396466463 | CDH1 | c.1756T>A (p.Ser586Thr) c.1573T>A (p.Ser525Thr) n.1827T>A c.*422T>A (n.*422T>A) c.1610T>A (p.Val537Asp) c.1819T>A (p.Ser607Thr) c.1021T>A (p.Ser341Thr) c.208T>A (p.Ser70Thr) c.-210T>A (n.-210T>A) | dbSNP |
| 16 | g.68822045T>C | CA396466464 | CDH1 | c.1756T>C (p.Ser586Pro) c.1573T>C (p.Ser525Pro) n.1827T>C c.*422T>C (n.*422T>C) c.1610T>C (p.Val537Ala) c.1819T>C (p.Ser607Pro) c.1021T>C (p.Ser341Pro) c.208T>C (p.Ser70Pro) c.-210T>C (n.-210T>C) | |
| 16 | g.68822045T>G | CA396466466 | CDH1 | c.1756T>G (p.Ser586Ala) c.1573T>G (p.Ser525Ala) n.1827T>G c.*422T>G (n.*422T>G) c.1610T>G (p.Val537Gly) c.1819T>G (p.Ser607Ala) c.1021T>G (p.Ser341Ala) c.208T>G (p.Ser70Ala) c.-210T>G (n.-210T>G) | |
| 16 | g.68822046C>A | CA396466470 | CDH1 | c.1757C>A (p.Ser586Tyr) c.1574C>A (p.Ser525Tyr) n.1828C>A c.*423C>A (n.*423C>A) c.1611C>A (p.Val537=) c.1820C>A (p.Ser607Tyr) c.1022C>A (p.Ser341Tyr) c.209C>A (p.Ser70Tyr) c.-209C>A (n.-209C>A) | ClinVar dbSNP |
| 16 | g.68822046C= | CA2229980382 | CDH1 | c.1757C= (p.Ser586=) c.1574C= (p.Ser525=) n.1828C= c.*423C= (n.*423C=) c.1611C= (p.Val537=) c.1820C= (p.Ser607=) c.1022C= (p.Ser341=) c.209C= (p.Ser70=) c.-209C= (n.-209C=) | |
| 16 | g.68822046C>G | CA396466480 | CDH1 | c.1757C>G (p.Ser586Cys) c.1574C>G (p.Ser525Cys) n.1828C>G c.*423C>G (n.*423C>G) c.1611C>G (p.Val537=) c.1820C>G (p.Ser607Cys) c.1022C>G (p.Ser341Cys) c.209C>G (p.Ser70Cys) c.-209C>G (n.-209C>G) | dbSNP |
| 16 | g.68822046C>T | CA349411 | CDH1 | c.1757C>T (p.Ser586Phe) c.1574C>T (p.Ser525Phe) n.1828C>T c.*423C>T (n.*423C>T) c.1611C>T (p.Val537=) c.1820C>T (p.Ser607Phe) c.1022C>T (p.Ser341Phe) c.209C>T (p.Ser70Phe) c.-209C>T (n.-209C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.68822046_68822049delinsCTGA | CA2229980385 | CDH1 | c.1757_1760delinsCTGA (p.Ser586=) c.1574_1577delinsCTGA (p.Ser525=) n.1828_1831delinsCTGA c.*423_*426delinsCTGA (n.*423_*426delinsCTGA) c.1611_1614delinsCTGA (p.Val537=) c.1820_1823delinsCTGA (p.Ser607=) c.1022_1025delinsCTGA (p.Ser341=) c.209_212delinsCTGA (p.Ser70=) c.-209_-206delinsCTGA (n.-209_-206delinsCTGA) | |
| 16 | g.68822047T>A | CA496392535 | CDH1 | c.1758T>A (p.Ser586=) c.1575T>A (p.Ser525=) n.1829T>A c.*424T>A (n.*424T>A) c.1612T>A (p.Ter538Arg) c.1821T>A (p.Ser607=) c.1023T>A (p.Ser341=) c.210T>A (p.Ser70=) c.-208T>A (n.-208T>A) | dbSNP |
| 16 | g.68822047T>C | CA496392536 | CDH1 | c.1758T>C (p.Ser586=) c.1575T>C (p.Ser525=) n.1829T>C c.*424T>C (n.*424T>C) c.1612T>C (p.Ter538Arg) c.1821T>C (p.Ser607=) c.1023T>C (p.Ser341=) c.210T>C (p.Ser70=) c.-208T>C (n.-208T>C) | dbSNP |
| 16 | g.68822047T>G | CA496392537 | CDH1 | c.1758T>G (p.Ser586=) c.1575T>G (p.Ser525=) n.1829T>G c.*424T>G (n.*424T>G) c.1612T>G (p.Ter538Gly) c.1821T>G (p.Ser607=) c.1023T>G (p.Ser341=) c.210T>G (p.Ser70=) c.-208T>G (n.-208T>G) | |
| 16 | g.68822047T= | CA2229980391 | CDH1 | c.1758T= (p.Ser586=) c.1575T= (p.Ser525=) n.1829T= c.*424T= (n.*424T=) c.1612T= (p.Ter538=) c.1821T= (p.Ser607=) c.1023T= (p.Ser341=) c.210T= (p.Ser70=) c.-208T= (n.-208T=) | |
| 16 | g.68822049_68822051del | CA919732079 | CDH1 | c.1760_1762del (p.Asp587del) c.1577_1579del (p.Asp526del) n.1831_1833del c.*426_*428del (n.*426_*428del) c.1614_*2del (n.[c.1614_*2del;Ter538CysextTer3]) c.1823_1825del (p.Asp608del) c.1025_1027del (p.Asp342del) c.212_214del (p.Asp71del) c.-206_-204del (n.-206_-204del) | dbSNP |
| 16 | g.68822048G>A | CA396466484 | CDH1 | c.1759G>A (p.Asp587Asn) c.1576G>A (p.Asp526Asn) n.1830G>A c.*425G>A (n.*425G>A) c.1613G>A (p.Ter538=) c.1822G>A (p.Asp608Asn) c.1024G>A (p.Asp342Asn) c.211G>A (p.Asp71Asn) c.-207G>A (n.-207G>A) | dbSNP |
| 16 | g.68822048G>C | CA396466488 | CDH1 | c.1759G>C (p.Asp587His) c.1576G>C (p.Asp526His) n.1830G>C c.*425G>C (n.*425G>C) c.1613G>C (p.Ter538Ser) c.1822G>C (p.Asp608His) c.1024G>C (p.Asp342His) c.211G>C (p.Asp71His) c.-207G>C (n.-207G>C) | dbSNP COSMIC |
| 16 | g.68822048G>T | CA396466495 | CDH1 | c.1759G>T (p.Asp587Tyr) c.1576G>T (p.Asp526Tyr) n.1830G>T c.*425G>T (n.*425G>T) c.1613G>T (p.Ter538Leu) c.1822G>T (p.Asp608Tyr) c.1024G>T (p.Asp342Tyr) c.211G>T (p.Asp71Tyr) c.-207G>T (n.-207G>T) | dbSNP COSMIC |
| 16 | g.68822049A= | CA2229980400 | CDH1 | c.1760A= (p.Asp587=) c.1577A= (p.Asp526=) n.1831A= c.*426A= (n.*426A=) c.1614A= (p.Ter538=) c.1823A= (p.Asp608=) c.1025A= (p.Asp342=) c.212A= (p.Asp71=) c.-206A= (n.-206A=) | |
| 16 | g.68822049A>C | CA396466496 | CDH1 | c.1760A>C (p.Asp587Ala) c.1577A>C (p.Asp526Ala) n.1831A>C c.*426A>C (n.*426A>C) c.1614A>C (p.Ter538Cys) c.1823A>C (p.Asp608Ala) c.1025A>C (p.Asp342Ala) c.212A>C (p.Asp71Ala) c.-206A>C (n.-206A>C) | |
| 16 | g.68822049A>G | CA396466497 | CDH1 | c.1760A>G (p.Asp587Gly) c.1577A>G (p.Asp526Gly) n.1831A>G c.*426A>G (n.*426A>G) c.1614A>G (p.Ter538Trp) c.1823A>G (p.Asp608Gly) c.1025A>G (p.Asp342Gly) c.212A>G (p.Asp71Gly) c.-206A>G (n.-206A>G) | ClinVar dbSNP COSMIC |
| 16 | g.68822049A>T | CA396466498 | CDH1 | c.1760A>T (p.Asp587Val) c.1577A>T (p.Asp526Val) n.1831A>T c.*426A>T (n.*426A>T) c.1614A>T (p.Ter538Cys) c.1823A>T (p.Asp608Val) c.1025A>T (p.Asp342Val) c.212A>T (p.Asp71Val) c.-206A>T (n.-206A>T) | dbSNP gnomAD v2 |
| 16 | g.68822049_68822051delinsATG | CA2229980399 | CDH1 | c.1760_1762delinsATG (p.Asp587=) c.1577_1579delinsATG (p.Asp526=) n.1831_1833delinsATG c.*426_*428delinsATG (n.*426_*428delinsATG) c.1614_*2delinsATG (n.[c.1614_*2delinsATG;Ter538=]) c.1823_1825delinsATG (p.Asp608=) c.1025_1027delinsATG (p.Asp342=) c.212_214delinsATG (p.Asp71=) c.-206_-204delinsATG (n.-206_-204delinsATG) | |
| 16 | g.68822050T>A | CA396466500 | CDH1 | c.1761T>A (p.Asp587Glu) c.1578T>A (p.Asp526Glu) n.1832T>A c.*427T>A (n.*427T>A) c.*1T>A (n.*1T>A) c.1824T>A (p.Asp608Glu) c.1026T>A (p.Asp342Glu) c.213T>A (p.Asp71Glu) c.-205T>A (n.-205T>A) | |
| 16 | g.68822050T>C | CA496392538 | CDH1 | c.1761T>C (p.Asp587=) c.1578T>C (p.Asp526=) n.1832T>C c.*427T>C (n.*427T>C) c.*1T>C (n.*1T>C) c.1824T>C (p.Asp608=) c.1026T>C (p.Asp342=) c.213T>C (p.Asp71=) c.-205T>C (n.-205T>C) | |
| 16 | g.68822050T>G | CA396466501 | CDH1 | c.1761T>G (p.Asp587Glu) c.1578T>G (p.Asp526Glu) n.1832T>G c.*427T>G (n.*427T>G) c.*1T>G (n.*1T>G) c.1824T>G (p.Asp608Glu) c.1026T>G (p.Asp342Glu) c.213T>G (p.Asp71Glu) c.-205T>G (n.-205T>G) |