UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.68822018G>A | CA396466273 | CDH1 | c.1729G>A (p.Gly577Arg) c.1546G>A (p.Gly516Arg) n.1800G>A c.*395G>A (n.*395G>A) c.1583G>A (p.Trp528Ter) c.1792G>A (p.Gly598Arg) c.994G>A (p.Gly332Arg) c.181G>A (p.Gly61Arg) c.-237G>A (n.-237G>A) | ClinVar dbSNP |
| 16 | g.68822018G>C | CA396466278 | CDH1 | c.1729G>C (p.Gly577Arg) c.1546G>C (p.Gly516Arg) n.1800G>C c.*395G>C (n.*395G>C) c.1583G>C (p.Trp528Ser) c.1792G>C (p.Gly598Arg) c.994G>C (p.Gly332Arg) c.181G>C (p.Gly61Arg) c.-237G>C (n.-237G>C) | dbSNP |
| 16 | g.68822018G= | CA2229980268 | CDH1 | c.1729G= (p.Gly577=) c.1546G= (p.Gly516=) n.1800G= c.*395G= (n.*395G=) c.1583G= (p.Trp528=) c.1792G= (p.Gly598=) c.994G= (p.Gly332=) c.181G= (p.Gly61=) c.-237G= (n.-237G=) | |
| 16 | g.68822018G>T | CA396466276 | CDH1 | c.1729G>T (p.Gly577Ter) c.1546G>T (p.Gly516Ter) n.1800G>T c.*395G>T (n.*395G>T) c.1583G>T (p.Trp528Leu) c.1792G>T (p.Gly598Ter) c.994G>T (p.Gly332Ter) c.181G>T (p.Gly61Ter) c.-237G>T (n.-237G>T) | |
| 16 | g.68822019G>A | CA396466281 | CDH1 | c.1730G>A (p.Gly577Glu) c.1547G>A (p.Gly516Glu) n.1801G>A c.*396G>A (n.*396G>A) c.1584G>A (p.Trp528Ter) c.1793G>A (p.Gly598Glu) c.995G>A (p.Gly332Glu) c.182G>A (p.Gly61Glu) c.-236G>A (n.-236G>A) | ClinVar dbSNP |
| 16 | g.68822019G>C | CA396466291 | CDH1 | c.1730G>C (p.Gly577Ala) c.1547G>C (p.Gly516Ala) n.1801G>C c.*396G>C (n.*396G>C) c.1584G>C (p.Trp528Cys) c.1793G>C (p.Gly598Ala) c.995G>C (p.Gly332Ala) c.182G>C (p.Gly61Ala) c.-236G>C (n.-236G>C) | dbSNP |
| 16 | g.68822019G= | CA2229980273 | CDH1 | c.1730G= (p.Gly577=) c.1547G= (p.Gly516=) n.1801G= c.*396G= (n.*396G=) c.1584G= (p.Trp528=) c.1793G= (p.Gly598=) c.995G= (p.Gly332=) c.182G= (p.Gly61=) c.-236G= (n.-236G=) | |
| 16 | g.68822019G>T | CA396466284 | CDH1 | c.1730G>T (p.Gly577Val) c.1547G>T (p.Gly516Val) n.1801G>T c.*396G>T (n.*396G>T) c.1584G>T (p.Trp528Cys) c.1793G>T (p.Gly598Val) c.995G>T (p.Gly332Val) c.182G>T (p.Gly61Val) c.-236G>T (n.-236G>T) | dbSNP |
| 16 | g.68822020A>C | CA496392508 | CDH1 | c.1731A>C (p.Gly577=) c.1548A>C (p.Gly516=) n.1802A>C c.*397A>C (n.*397A>C) c.1585A>C (p.Asn529His) c.1794A>C (p.Gly598=) c.996A>C (p.Gly332=) c.183A>C (p.Gly61=) c.-235A>C (n.-235A>C) | |
| 16 | g.68822020A>G | CA496392509 | CDH1 | c.1731A>G (p.Gly577=) c.1548A>G (p.Gly516=) n.1802A>G c.*397A>G (n.*397A>G) c.1585A>G (p.Asn529Asp) c.1794A>G (p.Gly598=) c.996A>G (p.Gly332=) c.183A>G (p.Gly61=) c.-235A>G (n.-235A>G) | |
| 16 | g.68822020A>T | CA496392510 | CDH1 | c.1731A>T (p.Gly577=) c.1548A>T (p.Gly516=) n.1802A>T c.*397A>T (n.*397A>T) c.1585A>T (p.Asn529Tyr) c.1794A>T (p.Gly598=) c.996A>T (p.Gly332=) c.183A>T (p.Gly61=) c.-235A>T (n.-235A>T) | dbSNP |
| 16 | g.68822021A= | CA2229980281 | CDH1 | c.1732A= (p.Thr578=) c.1549A= (p.Thr517=) n.1803A= c.*398A= (n.*398A=) c.1586A= (p.Asn529=) c.1795A= (p.Thr599=) c.997A= (p.Thr333=) c.184A= (p.Thr62=) c.-234A= (n.-234A=) | |
| 16 | g.68822021A>C | CA396466295 | CDH1 | c.1732A>C (p.Thr578Pro) c.1549A>C (p.Thr517Pro) n.1803A>C c.*398A>C (n.*398A>C) c.1586A>C (p.Asn529Thr) c.1795A>C (p.Thr599Pro) c.997A>C (p.Thr333Pro) c.184A>C (p.Thr62Pro) c.-234A>C (n.-234A>C) | |
| 16 | g.68822021A>G | CA396466309 | CDH1 | c.1732A>G (p.Thr578Ala) c.1549A>G (p.Thr517Ala) n.1803A>G c.*398A>G (n.*398A>G) c.1586A>G (p.Asn529Ser) c.1795A>G (p.Thr599Ala) c.997A>G (p.Thr333Ala) c.184A>G (p.Thr62Ala) c.-234A>G (n.-234A>G) | ClinVar dbSNP |
| 16 | g.68822021A>T | CA396466298 | CDH1 | c.1732A>T (p.Thr578Ser) c.1549A>T (p.Thr517Ser) n.1803A>T c.*398A>T (n.*398A>T) c.1586A>T (p.Asn529Ile) c.1795A>T (p.Thr599Ser) c.997A>T (p.Thr333Ser) c.184A>T (p.Thr62Ser) c.-234A>T (n.-234A>T) | ClinVar dbSNP |
| 16 | g.68822022del | CA2580091844 | CDH1 | c.1733del (p.Thr578LysfsTer6) c.1550del (p.Thr517LysfsTer6) n.1804del c.*399del (n.*399del) c.1587del (p.Asn529LysfsTer?) c.1796del (p.Thr599LysfsTer6) c.998del (p.Thr333LysfsTer6) c.185del (p.Thr62LysfsTer6) c.-233del (n.-233del) | ClinVar |
| 16 | g.68822022C>A | CA396466319 | CDH1 | c.1733C>A (p.Thr578Lys) c.1550C>A (p.Thr517Lys) n.1804C>A c.*399C>A (n.*399C>A) c.1587C>A (p.Asn529Lys) c.1796C>A (p.Thr599Lys) c.998C>A (p.Thr333Lys) c.185C>A (p.Thr62Lys) c.-233C>A (n.-233C>A) | ClinVar dbSNP |
| 16 | g.68822022C= | CA2229980292 | CDH1 | c.1733C= (p.Thr578=) c.1550C= (p.Thr517=) n.1804C= c.*399C= (n.*399C=) c.1587C= (p.Asn529=) c.1796C= (p.Thr599=) c.998C= (p.Thr333=) c.185C= (p.Thr62=) c.-233C= (n.-233C=) | |
| 16 | g.68822022C>G | CA396466324 | CDH1 | c.1733C>G (p.Thr578Arg) c.1550C>G (p.Thr517Arg) n.1804C>G c.*399C>G (n.*399C>G) c.1587C>G (p.Asn529Lys) c.1796C>G (p.Thr599Arg) c.998C>G (p.Thr333Arg) c.185C>G (p.Thr62Arg) c.-233C>G (n.-233C>G) | ClinVar dbSNP |
| 16 | g.68822022C>T | CA396466327 | CDH1 | c.1733C>T (p.Thr578Ile) c.1550C>T (p.Thr517Ile) n.1804C>T c.*399C>T (n.*399C>T) c.1587C>T (p.Asn529=) c.1796C>T (p.Thr599Ile) c.998C>T (p.Thr333Ile) c.185C>T (p.Thr62Ile) c.-233C>T (n.-233C>T) | ClinVar dbSNP |
| 16 | g.68822022dup | CA645580182 | CDH1 | c.1733dup (p.Gly579ArgfsTer9) c.1550dup (p.Gly518ArgfsTer9) n.1804dup c.*399dup (n.*399dup) c.1587dup (p.Arg530GlnfsTer6) c.1796dup (p.Gly600ArgfsTer9) c.998dup (p.Gly334ArgfsTer9) c.185dup (p.Gly63ArgfsTer9) c.-233dup (n.-233dup) | ClinVar dbSNP COSMIC |
| 16 | g.68822023A>C | CA496392511 | CDH1 | c.1734A>C (p.Thr578=) c.1551A>C (p.Thr517=) n.1805A>C c.*400A>C (n.*400A>C) c.1588A>C (p.Arg530=) c.1797A>C (p.Thr599=) c.999A>C (p.Thr333=) c.186A>C (p.Thr62=) c.-232A>C (n.-232A>C) | |
| 16 | g.68822023A>G | CA496392512 | CDH1 | c.1734A>G (p.Thr578=) c.1551A>G (p.Thr517=) n.1805A>G c.*400A>G (n.*400A>G) c.1588A>G (p.Arg530Gly) c.1797A>G (p.Thr599=) c.999A>G (p.Thr333=) c.186A>G (p.Thr62=) c.-232A>G (n.-232A>G) | dbSNP |
| 16 | g.68822023A>T | CA496392513 | CDH1 | c.1734A>T (p.Thr578=) c.1551A>T (p.Thr517=) n.1805A>T c.*400A>T (n.*400A>T) c.1588A>T (p.Arg530Trp) c.1797A>T (p.Thr599=) c.999A>T (p.Thr333=) c.186A>T (p.Thr62=) c.-232A>T (n.-232A>T) | dbSNP |
| 16 | g.68822023_68822024insC | CA496392514 | CDH1 | c.1734_1735insC (p.Gly579ArgfsTer9) c.1551_1552insC (p.Gly518ArgfsTer9) n.1805_1806insC c.*400_*401insC (n.*400_*401insC) c.1588_1589insC (p.Arg530ThrfsTer6) c.1797_1798insC (p.Gly600ArgfsTer9) c.999_1000insC (p.Gly334ArgfsTer9) c.186_187insC (p.Gly63ArgfsTer9) c.-232_-231insC (n.-232_-231insC) | |
| 16 | g.68822024G>A | CA396466339 | CDH1 | c.1735G>A (p.Gly579Arg) c.1552G>A (p.Gly518Arg) n.1806G>A c.*401G>A (n.*401G>A) c.1589G>A (p.Arg530Lys) c.1798G>A (p.Gly600Arg) c.1000G>A (p.Gly334Arg) c.187G>A (p.Gly63Arg) c.-231G>A (n.-231G>A) | |
| 16 | g.68822024G>C | CA396466341 | CDH1 | c.1735G>C (p.Gly579Arg) c.1552G>C (p.Gly518Arg) n.1806G>C c.*401G>C (n.*401G>C) c.1589G>C (p.Arg530Thr) c.1798G>C (p.Gly600Arg) c.1000G>C (p.Gly334Arg) c.187G>C (p.Gly63Arg) c.-231G>C (n.-231G>C) | dbSNP |
| 16 | g.68822024G>T | CA396466344 | CDH1 | c.1735G>T (p.Gly579Trp) c.1552G>T (p.Gly518Trp) n.1806G>T c.*401G>T (n.*401G>T) c.1589G>T (p.Arg530Met) c.1798G>T (p.Gly600Trp) c.1000G>T (p.Gly334Trp) c.187G>T (p.Gly63Trp) c.-231G>T (n.-231G>T) | dbSNP |
| 16 | g.68822025G>A | CA396466345 | CDH1 | c.1736G>A (p.Gly579Glu) c.1553G>A (p.Gly518Glu) n.1807G>A c.*402G>A (n.*402G>A) c.1590G>A (p.Arg530=) c.1799G>A (p.Gly600Glu) c.1001G>A (p.Gly334Glu) c.188G>A (p.Gly63Glu) c.-230G>A (n.-230G>A) | ClinVar dbSNP |
| 16 | g.68822025G>C | CA396466346 | CDH1 | c.1736G>C (p.Gly579Ala) c.1553G>C (p.Gly518Ala) n.1807G>C c.*402G>C (n.*402G>C) c.1590G>C (p.Arg530Ser) c.1799G>C (p.Gly600Ala) c.1001G>C (p.Gly334Ala) c.188G>C (p.Gly63Ala) c.-230G>C (n.-230G>C) | dbSNP |
| 16 | g.68822025G= | CA2229980300 | CDH1 | c.1736G= (p.Gly579=) c.1553G= (p.Gly518=) n.1807G= c.*402G= (n.*402G=) c.1590G= (p.Arg530=) c.1799G= (p.Gly600=) c.1001G= (p.Gly334=) c.188G= (p.Gly63=) c.-230G= (n.-230G=) | |
| 16 | g.68822025G>T | CA396466347 | CDH1 | c.1736G>T (p.Gly579Val) c.1553G>T (p.Gly518Val) n.1807G>T c.*402G>T (n.*402G>T) c.1590G>T (p.Arg530Ser) c.1799G>T (p.Gly600Val) c.1001G>T (p.Gly334Val) c.188G>T (p.Gly63Val) c.-230G>T (n.-230G>T) | dbSNP |
| 16 | g.68822026G>A | CA496392517 | CDH1 | c.1737G>A (p.Gly579=) c.1554G>A (p.Gly518=) n.1808G>A c.*403G>A (n.*403G>A) c.1591G>A (p.Asp531Asn) c.1800G>A (p.Gly600=) c.1002G>A (p.Gly334=) c.189G>A (p.Gly63=) c.-229G>A (n.-229G>A) | dbSNP |
| 16 | g.68822026G>C | CA496392515 | CDH1 | c.1737G>C (p.Gly579=) c.1554G>C (p.Gly518=) n.1808G>C c.*403G>C (n.*403G>C) c.1591G>C (p.Asp531His) c.1800G>C (p.Gly600=) c.1002G>C (p.Gly334=) c.189G>C (p.Gly63=) c.-229G>C (n.-229G>C) | ClinVar dbSNP |
| 16 | g.68822026G>T | CA496392516 | CDH1 | c.1737G>T (p.Gly579=) c.1554G>T (p.Gly518=) n.1808G>T c.*403G>T (n.*403G>T) c.1591G>T (p.Asp531Tyr) c.1800G>T (p.Gly600=) c.1002G>T (p.Gly334=) c.189G>T (p.Gly63=) c.-229G>T (n.-229G>T) | |
| 16 | g.68822027A= | CA2229980303 | CDH1 | c.1738A= (p.Thr580=) c.1555A= (p.Thr519=) n.1809A= c.*404A= (n.*404A=) c.1592A= (p.Asp531=) c.1801A= (p.Thr601=) c.1003A= (p.Thr335=) c.190A= (p.Thr64=) c.-228A= (n.-228A=) | |
| 16 | g.68822027A>C | CA396466348 | CDH1 | c.1738A>C (p.Thr580Pro) c.1555A>C (p.Thr519Pro) n.1809A>C c.*404A>C (n.*404A>C) c.1592A>C (p.Asp531Ala) c.1801A>C (p.Thr601Pro) c.1003A>C (p.Thr335Pro) c.190A>C (p.Thr64Pro) c.-228A>C (n.-228A>C) | dbSNP |
| 16 | g.68822027A>G | CA334359 | CDH1 | c.1738A>G (p.Thr580Ala) c.1555A>G (p.Thr519Ala) n.1809A>G c.*404A>G (n.*404A>G) c.1592A>G (p.Asp531Gly) c.1801A>G (p.Thr601Ala) c.1003A>G (p.Thr335Ala) c.190A>G (p.Thr64Ala) c.-228A>G (n.-228A>G) | ClinVar dbSNP gnomAD v4 |
| 16 | g.68822027A>T | CA396466353 | CDH1 | c.1738A>T (p.Thr580Ser) c.1555A>T (p.Thr519Ser) n.1809A>T c.*404A>T (n.*404A>T) c.1592A>T (p.Asp531Val) c.1801A>T (p.Thr601Ser) c.1003A>T (p.Thr335Ser) c.190A>T (p.Thr64Ser) c.-228A>T (n.-228A>T) | dbSNP |
| 16 | g.68822028C>A | CA396466370 | CDH1 | c.1739C>A (p.Thr580Lys) c.1556C>A (p.Thr519Lys) n.1810C>A c.*405C>A (n.*405C>A) c.1593C>A (p.Asp531Glu) c.1802C>A (p.Thr601Lys) c.1004C>A (p.Thr335Lys) c.191C>A (p.Thr64Lys) c.-227C>A (n.-227C>A) | ClinVar dbSNP |
| 16 | g.68822028C= | CA2229980306 | CDH1 | c.1739C= (p.Thr580=) c.1556C= (p.Thr519=) n.1810C= c.*405C= (n.*405C=) c.1593C= (p.Asp531=) c.1802C= (p.Thr601=) c.1004C= (p.Thr335=) c.191C= (p.Thr64=) c.-227C= (n.-227C=) | |
| 16 | g.68822028C>G | CA396466356 | CDH1 | c.1739C>G (p.Thr580Arg) c.1556C>G (p.Thr519Arg) n.1810C>G c.*405C>G (n.*405C>G) c.1593C>G (p.Asp531Glu) c.1802C>G (p.Thr601Arg) c.1004C>G (p.Thr335Arg) c.191C>G (p.Thr64Arg) c.-227C>G (n.-227C>G) | dbSNP |
| 16 | g.68822028C>T | CA396466367 | CDH1 | c.1739C>T (p.Thr580Ile) c.1556C>T (p.Thr519Ile) n.1810C>T c.*405C>T (n.*405C>T) c.1593C>T (p.Asp531=) c.1802C>T (p.Thr601Ile) c.1004C>T (p.Thr335Ile) c.191C>T (p.Thr64Ile) c.-227C>T (n.-227C>T) | ClinVar dbSNP gnomAD v4 |
| 16 | g.68822029A>C | CA496392518 | CDH1 | c.1740A>C (p.Thr580=) c.1557A>C (p.Thr519=) n.1811A>C c.*406A>C (n.*406A>C) c.1594A>C (p.Thr532Pro) c.1803A>C (p.Thr601=) c.1005A>C (p.Thr335=) c.192A>C (p.Thr64=) c.-226A>C (n.-226A>C) | |
| 16 | g.68822029A>G | CA496392519 | CDH1 | c.1740A>G (p.Thr580=) c.1557A>G (p.Thr519=) n.1811A>G c.*406A>G (n.*406A>G) c.1594A>G (p.Thr532Ala) c.1803A>G (p.Thr601=) c.1005A>G (p.Thr335=) c.192A>G (p.Thr64=) c.-226A>G (n.-226A>G) | dbSNP gnomAD v4 |
| 16 | g.68822029A>T | CA496392520 | CDH1 | c.1740A>T (p.Thr580=) c.1557A>T (p.Thr519=) n.1811A>T c.*406A>T (n.*406A>T) c.1594A>T (p.Thr532Ser) c.1803A>T (p.Thr601=) c.1005A>T (p.Thr335=) c.192A>T (p.Thr64=) c.-226A>T (n.-226A>T) | dbSNP |
| 16 | g.68822030C>A | CA396466372 | CDH1 | c.1741C>A (p.Leu581Ile) c.1558C>A (p.Leu520Ile) n.1812C>A c.*407C>A (n.*407C>A) c.1595C>A (p.Thr532Asn) c.1804C>A (p.Leu602Ile) c.1006C>A (p.Leu336Ile) c.193C>A (p.Leu65Ile) c.-225C>A (n.-225C>A) | |
| 16 | g.68822030C= | CA2229980312 | CDH1 | c.1741C= (p.Leu581=) c.1558C= (p.Leu520=) n.1812C= c.*407C= (n.*407C=) c.1595C= (p.Thr532=) c.1804C= (p.Leu602=) c.1006C= (p.Leu336=) c.193C= (p.Leu65=) c.-225C= (n.-225C=) | |
| 16 | g.68822030C>G | CA396466374 | CDH1 | c.1741C>G (p.Leu581Val) c.1558C>G (p.Leu520Val) n.1812C>G c.*407C>G (n.*407C>G) c.1595C>G (p.Thr532Ser) c.1804C>G (p.Leu602Val) c.1006C>G (p.Leu336Val) c.193C>G (p.Leu65Val) c.-225C>G (n.-225C>G) | dbSNP |
| 16 | g.68822030C>T | CA396466375 | CDH1 | c.1741C>T (p.Leu581Phe) c.1558C>T (p.Leu520Phe) n.1812C>T c.*407C>T (n.*407C>T) c.1595C>T (p.Thr532Ile) c.1804C>T (p.Leu602Phe) c.1006C>T (p.Leu336Phe) c.193C>T (p.Leu65Phe) c.-225C>T (n.-225C>T) | ClinVar dbSNP |