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 |
|---|---|---|---|---|---|
| 16 | g.68823429_68823450del | CA645580195 | CDH1 | c.1967_1988del (p.Met656ThrfsTer16) c.1784_1805del (p.Met595ThrfsTer16) n.185_206del n.2038_2059del c.*633_*654del (n.*633_*654del) c.*207_*228del (n.*207_*228del) c.2030_2051del (p.Met677ThrfsTer16) c.1830+1310_1830+1331del (n.1830+1310_1830+1331del) c.1865+1275_1865+1296del (n.1865+1275_1865+1296del) c.1232_1253del (p.Met411ThrfsTer16) c.419_440del (p.Met140ThrfsTer16) c.2_23del (p.Met1ThrfsTer16) | COSMIC |
| 16 | g.68823441T>A | CA396467592 | CDH1 | c.1979T>A (p.Val660Glu) c.1796T>A (p.Val599Glu) n.197T>A n.2050T>A c.*645T>A (n.*645T>A) c.*219T>A (n.*219T>A) c.2042T>A (p.Val681Glu) c.1830+1322T>A (n.1830+1322T>A) c.1865+1287T>A (n.1865+1287T>A) c.1244T>A (p.Val415Glu) c.431T>A (p.Val144Glu) c.14T>A (p.Val5Glu) | ClinVar dbSNP |
| 16 | g.68823441T>C | CA396467590 | CDH1 | c.1979T>C (p.Val660Ala) c.1796T>C (p.Val599Ala) n.197T>C n.2050T>C c.*645T>C (n.*645T>C) c.*219T>C (n.*219T>C) c.2042T>C (p.Val681Ala) c.1830+1322T>C (n.1830+1322T>C) c.1865+1287T>C (n.1865+1287T>C) c.1244T>C (p.Val415Ala) c.431T>C (p.Val144Ala) c.14T>C (p.Val5Ala) | ClinVar dbSNP gnomAD v4 |
| 16 | g.68823441T>G | CA396467591 | CDH1 | c.1979T>G (p.Val660Gly) c.1796T>G (p.Val599Gly) n.197T>G n.2050T>G c.*645T>G (n.*645T>G) c.*219T>G (n.*219T>G) c.2042T>G (p.Val681Gly) c.1830+1322T>G (n.1830+1322T>G) c.1865+1287T>G (n.1865+1287T>G) c.1244T>G (p.Val415Gly) c.431T>G (p.Val144Gly) c.14T>G (p.Val5Gly) | dbSNP |
| 16 | g.68823441T= | CA2229982711 | CDH1 | c.1979T= (p.Val660=) c.1796T= (p.Val599=) n.197T= n.2050T= c.*645T= (n.*645T=) c.*219T= (n.*219T=) c.2042T= (p.Val681=) c.1830+1322T= (n.1830+1322T=) c.1865+1287T= (n.1865+1287T=) c.1244T= (p.Val415=) c.431T= (p.Val144=) c.14T= (p.Val5=) | |
| 16 | g.68823441dup | CA298940 | CDH1 | c.1979dup (p.Asp662Ter) c.1796dup (p.Asp601Ter) n.197dup n.2050dup c.*645dup (n.*645dup) c.*219dup (n.*219dup) c.2042dup (p.Asp683Ter) c.1830+1322dup (n.1830+1322dup) c.1865+1287dup (n.1865+1287dup) c.1244dup (p.Asp417Ter) c.431dup (p.Asp146Ter) c.14dup (p.Asp7Ter) | ClinVar dbSNP |
| 16 | g.68823441_68823442delinsTG | CA2229982712 | CDH1 | c.1979_1980delinsTG (p.Val660=) c.1796_1797delinsTG (p.Val599=) n.197_198delinsTG n.2050_2051delinsTG c.*645_*646delinsTG (n.*645_*646delinsTG) c.*219_*220delinsTG (n.*219_*220delinsTG) c.2042_2043delinsTG (p.Val681=) c.1830+1322_1830+1323delinsTG (n.1830+1322_1830+1323delinsTG) c.1865+1287_1865+1288delinsTG (n.1865+1287_1865+1288delinsTG) c.1244_1245delinsTG (p.Val415=) c.431_432delinsTG (p.Val144=) c.14_15delinsTG (p.Val5=) | |
| 16 | g.68823442G>A | CA496393076 | CDH1 | c.1980G>A (p.Val660=) c.1797G>A (p.Val599=) n.198G>A n.2051G>A c.*646G>A (n.*646G>A) c.*220G>A (n.*220G>A) c.2043G>A (p.Val681=) c.1830+1323G>A (n.1830+1323G>A) c.1865+1288G>A (n.1865+1288G>A) c.1245G>A (p.Val415=) c.432G>A (p.Val144=) c.15G>A (p.Val5=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.68823442G>C | CA496393077 | CDH1 | c.1980G>C (p.Val660=) c.1797G>C (p.Val599=) n.198G>C n.2051G>C c.*646G>C (n.*646G>C) c.*220G>C (n.*220G>C) c.2043G>C (p.Val681=) c.1830+1323G>C (n.1830+1323G>C) c.1865+1288G>C (n.1865+1288G>C) c.1245G>C (p.Val415=) c.432G>C (p.Val144=) c.15G>C (p.Val5=) | dbSNP |
| 16 | g.68823442G>T | CA496393078 | CDH1 | c.1980G>T (p.Val660=) c.1797G>T (p.Val599=) n.198G>T n.2051G>T c.*646G>T (n.*646G>T) c.*220G>T (n.*220G>T) c.2043G>T (p.Val681=) c.1830+1323G>T (n.1830+1323G>T) c.1865+1288G>T (n.1865+1288G>T) c.1245G>T (p.Val415=) c.432G>T (p.Val144=) c.15G>T (p.Val5=) | COSMIC |
| 16 | g.68823444dup | CA2580091875 | CDH1 | c.1982dup (p.Asp662Ter) c.1799dup (p.Asp601Ter) n.200dup n.2053dup c.*648dup (n.*648dup) c.*222dup (n.*222dup) c.2045dup (p.Asp683Ter) c.1830+1325dup (n.1830+1325dup) c.1865+1290dup (n.1865+1290dup) c.1247dup (p.Asp417Ter) c.434dup (p.Asp146Ter) c.17dup (p.Asp7Ter) | ClinVar |
| 16 | g.68823444del | CA915949323 | CDH1 | c.1982del (p.Gly661ValfsTer18) c.1799del (p.Gly600ValfsTer18) n.200del n.2053del c.*648del (n.*648del) c.*222del (n.*222del) c.2045del (p.Gly682ValfsTer18) c.1830+1325del (n.1830+1325del) c.1865+1290del (n.1865+1290del) c.1247del (p.Gly416ValfsTer18) c.434del (p.Gly145ValfsTer18) c.17del (p.Gly6ValfsTer18) | ClinVar dbSNP |
| 16 | g.68823443G>A | CA396467593 | CDH1 | c.1981G>A (p.Gly661Ser) c.1798G>A (p.Gly600Ser) n.199G>A n.2052G>A c.*647G>A (n.*647G>A) c.*221G>A (n.*221G>A) c.2044G>A (p.Gly682Ser) c.1830+1324G>A (n.1830+1324G>A) c.1865+1289G>A (n.1865+1289G>A) c.1246G>A (p.Gly416Ser) c.433G>A (p.Gly145Ser) c.16G>A (p.Gly6Ser) | dbSNP |
| 16 | g.68823443G>C | CA396467594 | CDH1 | c.1981G>C (p.Gly661Arg) c.1798G>C (p.Gly600Arg) n.199G>C n.2052G>C c.*647G>C (n.*647G>C) c.*221G>C (n.*221G>C) c.2044G>C (p.Gly682Arg) c.1830+1324G>C (n.1830+1324G>C) c.1865+1289G>C (n.1865+1289G>C) c.1246G>C (p.Gly416Arg) c.433G>C (p.Gly145Arg) c.16G>C (p.Gly6Arg) | dbSNP |
| 16 | g.68823443G>T | CA396467595 | CDH1 | c.1981G>T (p.Gly661Cys) c.1798G>T (p.Gly600Cys) n.199G>T n.2052G>T c.*647G>T (n.*647G>T) c.*221G>T (n.*221G>T) c.2044G>T (p.Gly682Cys) c.1830+1324G>T (n.1830+1324G>T) c.1865+1289G>T (n.1865+1289G>T) c.1246G>T (p.Gly416Cys) c.433G>T (p.Gly145Cys) c.16G>T (p.Gly6Cys) | dbSNP |
| 16 | g.68823444G>A | CA8130184 | CDH1 | c.1982G>A (p.Gly661Asp) c.1799G>A (p.Gly600Asp) n.200G>A n.2053G>A c.*648G>A (n.*648G>A) c.*222G>A (n.*222G>A) c.2045G>A (p.Gly682Asp) c.1830+1325G>A (n.1830+1325G>A) c.1865+1290G>A (n.1865+1290G>A) c.1247G>A (p.Gly416Asp) c.434G>A (p.Gly145Asp) c.17G>A (p.Gly6Asp) | ClinVar dbSNP ExAC gnomAD v4 |
| 16 | g.68823444G>C | CA396467596 | CDH1 | c.1982G>C (p.Gly661Ala) c.1799G>C (p.Gly600Ala) n.200G>C n.2053G>C c.*648G>C (n.*648G>C) c.*222G>C (n.*222G>C) c.2045G>C (p.Gly682Ala) c.1830+1325G>C (n.1830+1325G>C) c.1865+1290G>C (n.1865+1290G>C) c.1247G>C (p.Gly416Ala) c.434G>C (p.Gly145Ala) c.17G>C (p.Gly6Ala) | dbSNP |
| 16 | g.68823444G= | CA2229982727 | CDH1 | c.1982G= (p.Gly661=) c.1799G= (p.Gly600=) n.200G= n.2053G= c.*648G= (n.*648G=) c.*222G= (n.*222G=) c.2045G= (p.Gly682=) c.1830+1325G= (n.1830+1325G=) c.1865+1290G= (n.1865+1290G=) c.1247G= (p.Gly416=) c.434G= (p.Gly145=) c.17G= (p.Gly6=) | |
| 16 | g.68823444G>T | CA396467597 | CDH1 | c.1982G>T (p.Gly661Val) c.1799G>T (p.Gly600Val) n.200G>T n.2053G>T c.*648G>T (n.*648G>T) c.*222G>T (n.*222G>T) c.2045G>T (p.Gly682Val) c.1830+1325G>T (n.1830+1325G>T) c.1865+1290G>T (n.1865+1290G>T) c.1247G>T (p.Gly416Val) c.434G>T (p.Gly145Val) c.17G>T (p.Gly6Val) | dbSNP |
| 16 | g.68823445T>A | CA496393079 | CDH1 | c.1983T>A (p.Gly661=) c.1800T>A (p.Gly600=) n.201T>A n.2054T>A c.*649T>A (n.*649T>A) c.*223T>A (n.*223T>A) c.2046T>A (p.Gly682=) c.1830+1326T>A (n.1830+1326T>A) c.1865+1291T>A (n.1865+1291T>A) c.1248T>A (p.Gly416=) c.435T>A (p.Gly145=) c.18T>A (p.Gly6=) | dbSNP |
| 16 | g.68823445T>C | CA10580142 | CDH1 | c.1983T>C (p.Gly661=) c.1800T>C (p.Gly600=) n.201T>C n.2054T>C c.*649T>C (n.*649T>C) c.*223T>C (n.*223T>C) c.2046T>C (p.Gly682=) c.1830+1326T>C (n.1830+1326T>C) c.1865+1291T>C (n.1865+1291T>C) c.1248T>C (p.Gly416=) c.435T>C (p.Gly145=) c.18T>C (p.Gly6=) | ClinVar dbSNP |
| 16 | g.68823445T>G | CA8130185 | CDH1 | c.1983T>G (p.Gly661=) c.1800T>G (p.Gly600=) n.201T>G n.2054T>G c.*649T>G (n.*649T>G) c.*223T>G (n.*223T>G) c.2046T>G (p.Gly682=) c.1830+1326T>G (n.1830+1326T>G) c.1865+1291T>G (n.1865+1291T>G) c.1248T>G (p.Gly416=) c.435T>G (p.Gly145=) c.18T>G (p.Gly6=) | dbSNP ExAC gnomAD v4 |
| 16 | g.68823445T= | CA2229982735 | CDH1 | c.1983T= (p.Gly661=) c.1800T= (p.Gly600=) n.201T= n.2054T= c.*649T= (n.*649T=) c.*223T= (n.*223T=) c.2046T= (p.Gly682=) c.1830+1326T= (n.1830+1326T=) c.1865+1291T= (n.1865+1291T=) c.1248T= (p.Gly416=) c.435T= (p.Gly145=) c.18T= (p.Gly6=) | |
| 16 | g.68823446_68823449dup | CA2739266862 | CDH1 | c.1984_1987dup (p.Tyr663Ter) c.1801_1804dup (p.Tyr602Ter) n.202_205dup n.2055_2058dup c.*650_*653dup (n.*650_*653dup) c.*224_*227dup (n.*224_*227dup) c.2047_2050dup (p.Tyr684Ter) c.1830+1327_1830+1330dup (n.1830+1327_1830+1330dup) c.1865+1292_1865+1295dup (n.1865+1292_1865+1295dup) c.1249_1252dup (p.Tyr418Ter) c.436_439dup (p.Tyr147Ter) c.19_22dup (p.Tyr8Ter) | ClinVar |
| 16 | g.68823446G>A | CA396467598 | CDH1 | c.1984G>A (p.Asp662Asn) c.1801G>A (p.Asp601Asn) n.202G>A n.2055G>A c.*650G>A (n.*650G>A) c.*224G>A (n.*224G>A) c.2047G>A (p.Asp683Asn) c.1830+1327G>A (n.1830+1327G>A) c.1865+1292G>A (n.1865+1292G>A) c.1249G>A (p.Asp417Asn) c.436G>A (p.Asp146Asn) c.19G>A (p.Asp7Asn) | ClinVar dbSNP COSMIC |
| 16 | g.68823446G>C | CA396467600 | CDH1 | c.1984G>C (p.Asp662His) c.1801G>C (p.Asp601His) n.202G>C n.2055G>C c.*650G>C (n.*650G>C) c.*224G>C (n.*224G>C) c.2047G>C (p.Asp683His) c.1830+1327G>C (n.1830+1327G>C) c.1865+1292G>C (n.1865+1292G>C) c.1249G>C (p.Asp417His) c.436G>C (p.Asp146His) c.19G>C (p.Asp7His) | dbSNP |
| 16 | g.68823446G= | CA2229982743 | CDH1 | c.1984G= (p.Asp662=) c.1801G= (p.Asp601=) n.202G= n.2055G= c.*650G= (n.*650G=) c.*224G= (n.*224G=) c.2047G= (p.Asp683=) c.1830+1327G= (n.1830+1327G=) c.1865+1292G= (n.1865+1292G=) c.1249G= (p.Asp417=) c.436G= (p.Asp146=) c.19G= (p.Asp7=) | |
| 16 | g.68823446G>T | CA396467599 | CDH1 | c.1984G>T (p.Asp662Tyr) c.1801G>T (p.Asp601Tyr) n.202G>T n.2055G>T c.*650G>T (n.*650G>T) c.*224G>T (n.*224G>T) c.2047G>T (p.Asp683Tyr) c.1830+1327G>T (n.1830+1327G>T) c.1865+1292G>T (n.1865+1292G>T) c.1249G>T (p.Asp417Tyr) c.436G>T (p.Asp146Tyr) c.19G>T (p.Asp7Tyr) | ClinVar dbSNP |
| 16 | g.68823447A= | CA2229982754 | CDH1 | c.1985A= (p.Asp662=) c.1802A= (p.Asp601=) n.203A= n.2056A= c.*651A= (n.*651A=) c.*225A= (n.*225A=) c.2048A= (p.Asp683=) c.1830+1328A= (n.1830+1328A=) c.1865+1293A= (n.1865+1293A=) c.1250A= (p.Asp417=) c.437A= (p.Asp146=) c.20A= (p.Asp7=) | |
| 16 | g.68823447A>C | CA396467601 | CDH1 | c.1985A>C (p.Asp662Ala) c.1802A>C (p.Asp601Ala) n.203A>C n.2056A>C c.*651A>C (n.*651A>C) c.*225A>C (n.*225A>C) c.2048A>C (p.Asp683Ala) c.1830+1328A>C (n.1830+1328A>C) c.1865+1293A>C (n.1865+1293A>C) c.1250A>C (p.Asp417Ala) c.437A>C (p.Asp146Ala) c.20A>C (p.Asp7Ala) | |
| 16 | g.68823447A>G | CA396467602 | CDH1 | c.1985A>G (p.Asp662Gly) c.1802A>G (p.Asp601Gly) n.203A>G n.2056A>G c.*651A>G (n.*651A>G) c.*225A>G (n.*225A>G) c.2048A>G (p.Asp683Gly) c.1830+1328A>G (n.1830+1328A>G) c.1865+1293A>G (n.1865+1293A>G) c.1250A>G (p.Asp417Gly) c.437A>G (p.Asp146Gly) c.20A>G (p.Asp7Gly) | ClinVar |
| 16 | g.68823447A>T | CA396467603 | CDH1 | c.1985A>T (p.Asp662Val) c.1802A>T (p.Asp601Val) n.203A>T n.2056A>T c.*651A>T (n.*651A>T) c.*225A>T (n.*225A>T) c.2048A>T (p.Asp683Val) c.1830+1328A>T (n.1830+1328A>T) c.1865+1293A>T (n.1865+1293A>T) c.1250A>T (p.Asp417Val) c.437A>T (p.Asp146Val) c.20A>T (p.Asp7Val) | ClinVar dbSNP |
| 16 | g.68823448C>A | CA396467604 | CDH1 | c.1986C>A (p.Asp662Glu) c.1803C>A (p.Asp601Glu) n.204C>A n.2057C>A c.*652C>A (n.*652C>A) c.*226C>A (n.*226C>A) c.2049C>A (p.Asp683Glu) c.1830+1329C>A (n.1830+1329C>A) c.1865+1294C>A (n.1865+1294C>A) c.1251C>A (p.Asp417Glu) c.438C>A (p.Asp146Glu) c.21C>A (p.Asp7Glu) | |
| 16 | g.68823448C>G | CA396467605 | CDH1 | c.1986C>G (p.Asp662Glu) c.1803C>G (p.Asp601Glu) n.204C>G n.2057C>G c.*652C>G (n.*652C>G) c.*226C>G (n.*226C>G) c.2049C>G (p.Asp683Glu) c.1830+1329C>G (n.1830+1329C>G) c.1865+1294C>G (n.1865+1294C>G) c.1251C>G (p.Asp417Glu) c.438C>G (p.Asp146Glu) c.21C>G (p.Asp7Glu) | dbSNP |
| 16 | g.68823448C>T | CA496393084 | CDH1 | c.1986C>T (p.Asp662=) c.1803C>T (p.Asp601=) n.204C>T n.2057C>T c.*652C>T (n.*652C>T) c.*226C>T (n.*226C>T) c.2049C>T (p.Asp683=) c.1830+1329C>T (n.1830+1329C>T) c.1865+1294C>T (n.1865+1294C>T) c.1251C>T (p.Asp417=) c.438C>T (p.Asp146=) c.21C>T (p.Asp7=) | ClinVar |
| 16 | g.68823448_68823449del | CA645580196 | CDH1 | c.1986_1987del (p.Asp662GlufsTer10) c.1803_1804del (p.Asp601GlufsTer10) n.204_205del n.2057_2058del c.*652_*653del (n.*652_*653del) c.*226_*227del (n.*226_*227del) c.2049_2050del (p.Asp683GlufsTer10) c.1830+1329_1830+1330del (n.1830+1329_1830+1330del) c.1865+1294_1865+1295del (n.1865+1294_1865+1295del) c.1251_1252del (p.Asp417GlufsTer10) c.438_439del (p.Asp146GlufsTer10) c.21_22del (p.Asp7GlufsTer10) | COSMIC |
| 16 | g.68823449T>A | CA396467606 | CDH1 | c.1987T>A (p.Tyr663Asn) c.1804T>A (p.Tyr602Asn) n.205T>A n.2058T>A c.*653T>A (n.*653T>A) c.*227T>A (n.*227T>A) c.2050T>A (p.Tyr684Asn) c.1830+1330T>A (n.1830+1330T>A) c.1865+1295T>A (n.1865+1295T>A) c.1252T>A (p.Tyr418Asn) c.439T>A (p.Tyr147Asn) c.22T>A (p.Tyr8Asn) | dbSNP |
| 16 | g.68823449T>C | CA396467607 | CDH1 | c.1987T>C (p.Tyr663His) c.1804T>C (p.Tyr602His) n.205T>C n.2058T>C c.*653T>C (n.*653T>C) c.*227T>C (n.*227T>C) c.2050T>C (p.Tyr684His) c.1830+1330T>C (n.1830+1330T>C) c.1865+1295T>C (n.1865+1295T>C) c.1252T>C (p.Tyr418His) c.439T>C (p.Tyr147His) c.22T>C (p.Tyr8His) | dbSNP |
| 16 | g.68823449T>G | CA396467608 | CDH1 | c.1987T>G (p.Tyr663Asp) c.1804T>G (p.Tyr602Asp) n.205T>G n.2058T>G c.*653T>G (n.*653T>G) c.*227T>G (n.*227T>G) c.2050T>G (p.Tyr684Asp) c.1830+1330T>G (n.1830+1330T>G) c.1865+1295T>G (n.1865+1295T>G) c.1252T>G (p.Tyr418Asp) c.439T>G (p.Tyr147Asp) c.22T>G (p.Tyr8Asp) | |
| 16 | g.68823450A= | CA2229982759 | CDH1 | c.1988A= (p.Tyr663=) c.1805A= (p.Tyr602=) n.206A= n.2059A= c.*654A= (n.*654A=) c.*228A= (n.*228A=) c.2051A= (p.Tyr684=) c.1830+1331A= (n.1830+1331A=) c.1865+1296A= (n.1865+1296A=) c.1253A= (p.Tyr418=) c.440A= (p.Tyr147=) c.23A= (p.Tyr8=) | |
| 16 | g.68823450A>C | CA396467609 | CDH1 | c.1988A>C (p.Tyr663Ser) c.1805A>C (p.Tyr602Ser) n.206A>C n.2059A>C c.*654A>C (n.*654A>C) c.*228A>C (n.*228A>C) c.2051A>C (p.Tyr684Ser) c.1830+1331A>C (n.1830+1331A>C) c.1865+1296A>C (n.1865+1296A>C) c.1253A>C (p.Tyr418Ser) c.440A>C (p.Tyr147Ser) c.23A>C (p.Tyr8Ser) | |
| 16 | g.68823450A>G | CA294086 | CDH1 | c.1988A>G (p.Tyr663Cys) c.1805A>G (p.Tyr602Cys) n.206A>G n.2059A>G c.*654A>G (n.*654A>G) c.*228A>G (n.*228A>G) c.2051A>G (p.Tyr684Cys) c.1830+1331A>G (n.1830+1331A>G) c.1865+1296A>G (n.1865+1296A>G) c.1253A>G (p.Tyr418Cys) c.440A>G (p.Tyr147Cys) c.23A>G (p.Tyr8Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.68823450A>T | CA396467610 | CDH1 | c.1988A>T (p.Tyr663Phe) c.1805A>T (p.Tyr602Phe) n.206A>T n.2059A>T c.*654A>T (n.*654A>T) c.*228A>T (n.*228A>T) c.2051A>T (p.Tyr684Phe) c.1830+1331A>T (n.1830+1331A>T) c.1865+1296A>T (n.1865+1296A>T) c.1253A>T (p.Tyr418Phe) c.440A>T (p.Tyr147Phe) c.23A>T (p.Tyr8Phe) | dbSNP |
| 16 | g.68823451_68823455del | CA2583646987 | CDH1 | c.1989_1993del (p.Lys664GlnfsTer7) c.1806_1810del (p.Lys603GlnfsTer7) n.207_211del n.2060_2064del c.*655_*659del (n.*655_*659del) c.*229_*233del (n.*229_*233del) c.2052_2056del (p.Lys685GlnfsTer7) c.1830+1332_1830+1336del (n.1830+1332_1830+1336del) c.1865+1297_1865+1301del (n.1865+1297_1865+1301del) c.1254_1258del (p.Lys419GlnfsTer7) c.441_445del (p.Lys148GlnfsTer7) c.24_28del (p.Lys9GlnfsTer7) | |
| 16 | g.68823451C>A | CA396467611 | CDH1 | c.1989C>A (p.Tyr663Ter) c.1806C>A (p.Tyr602Ter) n.207C>A n.2060C>A c.*655C>A (n.*655C>A) c.*229C>A (n.*229C>A) c.2052C>A (p.Tyr684Ter) c.1830+1332C>A (n.1830+1332C>A) c.1865+1297C>A (n.1865+1297C>A) c.1254C>A (p.Tyr418Ter) c.441C>A (p.Tyr147Ter) c.24C>A (p.Tyr8Ter) | |
| 16 | g.68823451C>G | CA396467612 | CDH1 | c.1989C>G (p.Tyr663Ter) c.1806C>G (p.Tyr602Ter) n.207C>G n.2060C>G c.*655C>G (n.*655C>G) c.*229C>G (n.*229C>G) c.2052C>G (p.Tyr684Ter) c.1830+1332C>G (n.1830+1332C>G) c.1865+1297C>G (n.1865+1297C>G) c.1254C>G (p.Tyr418Ter) c.441C>G (p.Tyr147Ter) c.24C>G (p.Tyr8Ter) | |
| 16 | g.68823451C>T | CA496393085 | CDH1 | c.1989C>T (p.Tyr663=) c.1806C>T (p.Tyr602=) n.207C>T n.2060C>T c.*655C>T (n.*655C>T) c.*229C>T (n.*229C>T) c.2052C>T (p.Tyr684=) c.1830+1332C>T (n.1830+1332C>T) c.1865+1297C>T (n.1865+1297C>T) c.1254C>T (p.Tyr418=) c.441C>T (p.Tyr147=) c.24C>T (p.Tyr8=) | ClinVar gnomAD v4 |
| 16 | g.68823451_68823452delinsCA | CA2229982762 | CDH1 | c.1989_1990delinsCA (p.Tyr663=) c.1806_1807delinsCA (p.Tyr602=) n.207_208delinsCA n.2060_2061delinsCA c.*655_*656delinsCA (n.*655_*656delinsCA) c.*229_*230delinsCA (n.*229_*230delinsCA) c.2052_2053delinsCA (p.Tyr684=) c.1830+1332_1830+1333delinsCA (n.1830+1332_1830+1333delinsCA) c.1865+1297_1865+1298delinsCA (n.1865+1297_1865+1298delinsCA) c.1254_1255delinsCA (p.Tyr418=) c.441_442delinsCA (p.Tyr147=) c.24_25delinsCA (p.Tyr8=) | |
| 16 | g.68823451_68823457del | CA645580197 | CDH1 | c.1989_1995del (p.Tyr663Ter) c.1806_1812del (p.Tyr602Ter) n.207_213del n.2060_2066del c.*655_*661del (n.*655_*661del) c.*229_*235del (n.*229_*235del) c.2052_2058del (p.Tyr684Ter) c.1830+1332_1830+1338del (n.1830+1332_1830+1338del) c.1865+1297_1865+1303del (n.1865+1297_1865+1303del) c.1254_1260del (p.Tyr418Ter) c.441_447del (p.Tyr147Ter) c.24_30del (p.Tyr8Ter) | COSMIC |
| 16 | g.68823452A= | CA2229982771 | CDH1 | c.1990A= (p.Lys664=) c.1807A= (p.Lys603=) n.208A= n.2061A= c.*656A= (n.*656A=) c.*230A= (n.*230A=) c.2053A= (p.Lys685=) c.1830+1333A= (n.1830+1333A=) c.1865+1298A= (n.1865+1298A=) c.1255A= (p.Lys419=) c.442A= (p.Lys148=) c.25A= (p.Lys9=) |