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 |
|---|---|---|---|---|---|
| 5 | g.112834938_112834949delinsTGTTTCTTACTA | CA1573470215 | APC | c.1409-13_1409-2delinsTGTTTCTTACTA (n.1409-13_1409-2delinsTGTTTCTTACTA) c.1798-13_1798-2delinsTGTTTCTTACTA (n.1798-13_1798-2delinsTGTTTCTTACTA) c.*1750-13_*1750-2delinsTGTTTCTTACTA (n.*1750-13_*1750-2delinsTGTTTCTTACTA) c.1690-13_1690-2delinsTGTTTCTTACTA (n.1690-13_1690-2delinsTGTTTCTTACTA) c.1744-13_1744-2delinsTGTTTCTTACTA (n.1744-13_1744-2delinsTGTTTCTTACTA) c.97-13_97-2delinsTGTTTCTTACTA c.433-13_433-2delinsTGTTTCTTACTA (n.433-13_433-2delinsTGTTTCTTACTA) c.*1066-13_*1066-2delinsTGTTTCTTACTA (n.*1066-13_*1066-2delinsTGTTTCTTACTA) c.230+5966_230+5977delinsTGTTTCTTACTA c.1774-13_1774-2delinsTGTTTCTTACTA (n.1774-13_1774-2delinsTGTTTCTTACTA) c.1669-13_1669-2delinsTGTTTCTTACTA (n.1669-13_1669-2delinsTGTTTCTTACTA) c.1660-13_1660-2delinsTGTTTCTTACTA (n.1660-13_1660-2delinsTGTTTCTTACTA) c.1621-13_1621-2delinsTGTTTCTTACTA (n.1621-13_1621-2delinsTGTTTCTTACTA) c.1567-13_1567-2delinsTGTTTCTTACTA (n.1567-13_1567-2delinsTGTTTCTTACTA) c.1471-13_1471-2delinsTGTTTCTTACTA (n.1471-13_1471-2delinsTGTTTCTTACTA) c.1441-13_1441-2delinsTGTTTCTTACTA (n.1441-13_1441-2delinsTGTTTCTTACTA) c.1366-13_1366-2delinsTGTTTCTTACTA (n.1366-13_1366-2delinsTGTTTCTTACTA) c.1264-13_1264-2delinsTGTTTCTTACTA (n.1264-13_1264-2delinsTGTTTCTTACTA) c.895-13_895-2delinsTGTTTCTTACTA (n.895-13_895-2delinsTGTTTCTTACTA) | |
| 5 | g.112834940_112834950del | CA16611652 | APC | c.1409-11_1409-1del (n.1409-11_1409-1del) c.1798-11_1798-1del (n.1798-11_1798-1del) c.*1750-11_*1750-1del (n.*1750-11_*1750-1del) c.1690-11_1690-1del (n.1690-11_1690-1del) c.1744-11_1744-1del (n.1744-11_1744-1del) c.97-11_97-1del c.433-11_433-1del (n.433-11_433-1del) c.*1066-11_*1066-1del (n.*1066-11_*1066-1del) c.230+5968_230+5978del c.1774-11_1774-1del (n.1774-11_1774-1del) c.1669-11_1669-1del (n.1669-11_1669-1del) c.1660-11_1660-1del (n.1660-11_1660-1del) c.1621-11_1621-1del (n.1621-11_1621-1del) c.1567-11_1567-1del (n.1567-11_1567-1del) c.1471-11_1471-1del (n.1471-11_1471-1del) c.1441-11_1441-1del (n.1441-11_1441-1del) c.1366-11_1366-1del (n.1366-11_1366-1del) c.1264-11_1264-1del (n.1264-11_1264-1del) c.895-11_895-1del (n.895-11_895-1del) | ClinVar dbSNP |
| 5 | g.112834949_112834961del | CA658760541 | APC | c.1409-2_1419del c.1798-2_1808del c.*1750-2_*1760del c.1690-2_1700del c.1744-2_1754del c.97-2_107del c.433-2_443del c.*1066-2_*1076del c.230+5977_230+5989del c.1774-2_1784del c.1669-2_1679del c.1660-2_1670del c.1621-2_1631del c.1567-2_1577del c.1471-2_1481del c.1441-2_1451del c.1366-2_1376del c.1264-2_1274del c.895-2_905del | |
| 5 | g.112834949A= | CA1573470268 | APC | c.1409-2A= (n.1409-2A=) c.1798-2A= (n.1798-2A=) c.*1750-2A= (n.*1750-2A=) c.1690-2A= (n.1690-2A=) c.1744-2A= (n.1744-2A=) c.97-2A= c.433-2A= (n.433-2A=) c.*1066-2A= (n.*1066-2A=) c.230+5977A= c.1774-2A= (n.1774-2A=) c.1669-2A= (n.1669-2A=) c.1660-2A= (n.1660-2A=) c.1621-2A= (n.1621-2A=) c.1567-2A= (n.1567-2A=) c.1471-2A= (n.1471-2A=) c.1441-2A= (n.1441-2A=) c.1366-2A= (n.1366-2A=) c.1264-2A= (n.1264-2A=) c.895-2A= (n.895-2A=) | |
| 5 | g.112834949A>C | CA360622292 | APC | c.1409-2A>C (n.1409-2A>C) c.1798-2A>C (n.1798-2A>C) c.*1750-2A>C (n.*1750-2A>C) c.1690-2A>C (n.1690-2A>C) c.1744-2A>C (n.1744-2A>C) c.97-2A>C c.433-2A>C (n.433-2A>C) c.*1066-2A>C (n.*1066-2A>C) c.230+5977A>C c.1774-2A>C (n.1774-2A>C) c.1669-2A>C (n.1669-2A>C) c.1660-2A>C (n.1660-2A>C) c.1621-2A>C (n.1621-2A>C) c.1567-2A>C (n.1567-2A>C) c.1471-2A>C (n.1471-2A>C) c.1441-2A>C (n.1441-2A>C) c.1366-2A>C (n.1366-2A>C) c.1264-2A>C (n.1264-2A>C) c.895-2A>C (n.895-2A>C) | ClinVar |
| 5 | g.112834949A>G | CA005882 | APC | c.1409-2A>G (n.1409-2A>G) c.1798-2A>G (n.1798-2A>G) c.*1750-2A>G (n.*1750-2A>G) c.1690-2A>G (n.1690-2A>G) c.1744-2A>G (n.1744-2A>G) c.97-2A>G c.433-2A>G (n.433-2A>G) c.*1066-2A>G (n.*1066-2A>G) c.230+5977A>G c.1774-2A>G (n.1774-2A>G) c.1669-2A>G (n.1669-2A>G) c.1660-2A>G (n.1660-2A>G) c.1621-2A>G (n.1621-2A>G) c.1567-2A>G (n.1567-2A>G) c.1471-2A>G (n.1471-2A>G) c.1441-2A>G (n.1441-2A>G) c.1366-2A>G (n.1366-2A>G) c.1264-2A>G (n.1264-2A>G) c.895-2A>G (n.895-2A>G) | ClinVar dbSNP COSMIC |
| 5 | g.112834949A>T | CA360622290 | APC | c.1409-2A>T (n.1409-2A>T) c.1798-2A>T (n.1798-2A>T) c.*1750-2A>T (n.*1750-2A>T) c.1690-2A>T (n.1690-2A>T) c.1744-2A>T (n.1744-2A>T) c.97-2A>T c.433-2A>T (n.433-2A>T) c.*1066-2A>T (n.*1066-2A>T) c.230+5977A>T c.1774-2A>T (n.1774-2A>T) c.1669-2A>T (n.1669-2A>T) c.1660-2A>T (n.1660-2A>T) c.1621-2A>T (n.1621-2A>T) c.1567-2A>T (n.1567-2A>T) c.1471-2A>T (n.1471-2A>T) c.1441-2A>T (n.1441-2A>T) c.1366-2A>T (n.1366-2A>T) c.1264-2A>T (n.1264-2A>T) c.895-2A>T (n.895-2A>T) | ClinVar dbSNP |
| 5 | g.112834949_112835166del | CA2499217458 | APC | c.1409-2_1623+1del c.1798-2_2012+1del c.*1750-2_*1964+1del c.1690-2_1904+1del c.1744-2_1958+1del c.97-2_311+1del c.433-2_647+1del c.*1066-2_*1280+1del c.230+5977_230+6194del c.1774-2_1988+1del c.1669-2_1883+1del c.1660-2_1874+1del c.1621-2_1835+1del c.1567-2_1781+1del c.1471-2_1685+1del c.1441-2_1655+1del c.1366-2_1580+1del c.1264-2_1478+1del c.895-2_1109+1del | ClinVar dbSNP |
| 5 | g.112834952_112835166del | CA658683035 | APC | c.1410_1623+1del c.1799_2012+1del c.*1751_*1964+1del c.1691_1904+1del c.1745_1958+1del c.98_311+1del c.434_647+1del c.*1067_*1280+1del c.230+5980_230+6194del c.1775_1988+1del c.1670_1883+1del c.1661_1874+1del c.1622_1835+1del c.1568_1781+1del c.1472_1685+1del c.1442_1655+1del c.1367_1580+1del c.1265_1478+1del c.896_1109+1del | |
| 5 | g.112834950G>A | CA360622294 | APC | c.1409-1G>A (n.1409-1G>A) c.1798-1G>A (n.1798-1G>A) c.*1750-1G>A (n.*1750-1G>A) c.1690-1G>A (n.1690-1G>A) c.1744-1G>A (n.1744-1G>A) c.97-1G>A c.433-1G>A (n.433-1G>A) c.*1066-1G>A (n.*1066-1G>A) c.230+5978G>A c.1774-1G>A (n.1774-1G>A) c.1669-1G>A (n.1669-1G>A) c.1660-1G>A (n.1660-1G>A) c.1621-1G>A (n.1621-1G>A) c.1567-1G>A (n.1567-1G>A) c.1471-1G>A (n.1471-1G>A) c.1441-1G>A (n.1441-1G>A) c.1366-1G>A (n.1366-1G>A) c.1264-1G>A (n.1264-1G>A) c.895-1G>A (n.895-1G>A) | ClinVar dbSNP |
| 5 | g.112834950G>C | CA360622296 | APC | c.1409-1G>C (n.1409-1G>C) c.1798-1G>C (n.1798-1G>C) c.*1750-1G>C (n.*1750-1G>C) c.1690-1G>C (n.1690-1G>C) c.1744-1G>C (n.1744-1G>C) c.97-1G>C c.433-1G>C (n.433-1G>C) c.*1066-1G>C (n.*1066-1G>C) c.230+5978G>C c.1774-1G>C (n.1774-1G>C) c.1669-1G>C (n.1669-1G>C) c.1660-1G>C (n.1660-1G>C) c.1621-1G>C (n.1621-1G>C) c.1567-1G>C (n.1567-1G>C) c.1471-1G>C (n.1471-1G>C) c.1441-1G>C (n.1441-1G>C) c.1366-1G>C (n.1366-1G>C) c.1264-1G>C (n.1264-1G>C) c.895-1G>C (n.895-1G>C) | ClinVar dbSNP COSMIC |
| 5 | g.112834950G= | CA1573470276 | APC | c.1409-1G= (n.1409-1G=) c.1798-1G= (n.1798-1G=) c.*1750-1G= (n.*1750-1G=) c.1690-1G= (n.1690-1G=) c.1744-1G= (n.1744-1G=) c.97-1G= c.433-1G= (n.433-1G=) c.*1066-1G= (n.*1066-1G=) c.230+5978G= c.1774-1G= (n.1774-1G=) c.1669-1G= (n.1669-1G=) c.1660-1G= (n.1660-1G=) c.1621-1G= (n.1621-1G=) c.1567-1G= (n.1567-1G=) c.1471-1G= (n.1471-1G=) c.1441-1G= (n.1441-1G=) c.1366-1G= (n.1366-1G=) c.1264-1G= (n.1264-1G=) c.895-1G= (n.895-1G=) | |
| 5 | g.112834950G>T | CA124982499 | APC | c.1409-1G>T (n.1409-1G>T) c.1798-1G>T (n.1798-1G>T) c.*1750-1G>T (n.*1750-1G>T) c.1690-1G>T (n.1690-1G>T) c.1744-1G>T (n.1744-1G>T) c.97-1G>T c.433-1G>T (n.433-1G>T) c.*1066-1G>T (n.*1066-1G>T) c.230+5978G>T c.1774-1G>T (n.1774-1G>T) c.1669-1G>T (n.1669-1G>T) c.1660-1G>T (n.1660-1G>T) c.1621-1G>T (n.1621-1G>T) c.1567-1G>T (n.1567-1G>T) c.1471-1G>T (n.1471-1G>T) c.1441-1G>T (n.1441-1G>T) c.1366-1G>T (n.1366-1G>T) c.1264-1G>T (n.1264-1G>T) c.895-1G>T (n.895-1G>T) | dbSNP |
| 5 | g.112834951dup | CA1139768272 | APC | c.1409dup c.1798dup c.*1750dup c.1690dup c.1744dup c.97dup c.433dup c.*1066dup c.230+5979dup c.1774dup c.1669dup c.1660dup c.1621dup c.1567dup c.1471dup c.1441dup c.1366dup c.1264dup c.895dup | |
| 5 | g.112834951G>A | CA16025126 | APC | c.1409G>A (p.Gly470Glu) c.1798G>A (p.Glu600Lys) c.*1750G>A (n.*1750G>A) c.1690G>A (p.Glu564Lys) c.1744G>A (p.Glu582Lys) c.97G>A c.433G>A (p.Glu145Lys) c.*1066G>A (n.*1066G>A) c.230+5979G>A c.1774G>A (p.Glu592Lys) c.1669G>A (p.Glu557Lys) c.1660G>A (p.Glu554Lys) c.1621G>A (p.Glu541Lys) c.1567G>A (p.Glu523Lys) c.1471G>A (p.Glu491Lys) c.1441G>A (p.Glu481Lys) c.1366G>A (p.Glu456Lys) c.1264G>A (p.Glu422Lys) c.895G>A (p.Glu299Lys) | dbSNP |
| 5 | g.112834951G>C | CA16025127 | APC | c.1409G>C (p.Gly470Ala) c.1798G>C (p.Glu600Gln) c.*1750G>C (n.*1750G>C) c.1690G>C (p.Glu564Gln) c.1744G>C (p.Glu582Gln) c.97G>C c.433G>C (p.Glu145Gln) c.*1066G>C (n.*1066G>C) c.230+5979G>C c.1774G>C (p.Glu592Gln) c.1669G>C (p.Glu557Gln) c.1660G>C (p.Glu554Gln) c.1621G>C (p.Glu541Gln) c.1567G>C (p.Glu523Gln) c.1471G>C (p.Glu491Gln) c.1441G>C (p.Glu481Gln) c.1366G>C (p.Glu456Gln) c.1264G>C (p.Glu422Gln) c.895G>C (p.Glu299Gln) | ClinVar dbSNP |
| 5 | g.112834951G= | CA1573470289 | APC | c.1409G= (p.Gly470=) c.1798G= (p.Glu600=) c.*1750G= (n.*1750G=) c.1690G= (p.Glu564=) c.1744G= (p.Glu582=) c.97G= c.433G= (p.Glu145=) c.*1066G= (n.*1066G=) c.230+5979G= c.1774G= (p.Glu592=) c.1669G= (p.Glu557=) c.1660G= (p.Glu554=) c.1621G= (p.Glu541=) c.1567G= (p.Glu523=) c.1471G= (p.Glu491=) c.1441G= (p.Glu481=) c.1366G= (p.Glu456=) c.1264G= (p.Glu422=) c.895G= (p.Glu299=) | |
| 5 | g.112834951G>T | CA16025128 | APC | c.1409G>T (p.Gly470Val) c.1798G>T (p.Glu600Ter) c.*1750G>T (n.*1750G>T) c.1690G>T (p.Glu564Ter) c.1744G>T (p.Glu582Ter) c.97G>T c.433G>T (p.Glu145Ter) c.*1066G>T (n.*1066G>T) c.230+5979G>T c.1774G>T (p.Glu592Ter) c.1669G>T (p.Glu557Ter) c.1660G>T (p.Glu554Ter) c.1621G>T (p.Glu541Ter) c.1567G>T (p.Glu523Ter) c.1471G>T (p.Glu491Ter) c.1441G>T (p.Glu481Ter) c.1366G>T (p.Glu456Ter) c.1264G>T (p.Glu422Ter) c.895G>T (p.Glu299Ter) | ClinVar dbSNP COSMIC |
| 5 | g.112834952A>C | CA16025129 | APC | c.1410A>C (p.Gly470=) c.1799A>C (p.Glu600Ala) c.*1751A>C (n.*1751A>C) c.1691A>C (p.Glu564Ala) c.1745A>C (p.Glu582Ala) c.98A>C c.434A>C (p.Glu145Ala) c.*1067A>C (n.*1067A>C) c.230+5980A>C c.1775A>C (p.Glu592Ala) c.1670A>C (p.Glu557Ala) c.1661A>C (p.Glu554Ala) c.1622A>C (p.Glu541Ala) c.1568A>C (p.Glu523Ala) c.1472A>C (p.Glu491Ala) c.1442A>C (p.Glu481Ala) c.1367A>C (p.Glu456Ala) c.1265A>C (p.Glu422Ala) c.896A>C (p.Glu299Ala) | dbSNP |
| 5 | g.112834952A>G | CA16025130 | APC | c.1410A>G (p.Gly470=) c.1799A>G (p.Glu600Gly) c.*1751A>G (n.*1751A>G) c.1691A>G (p.Glu564Gly) c.1745A>G (p.Glu582Gly) c.98A>G c.434A>G (p.Glu145Gly) c.*1067A>G (n.*1067A>G) c.230+5980A>G c.1775A>G (p.Glu592Gly) c.1670A>G (p.Glu557Gly) c.1661A>G (p.Glu554Gly) c.1622A>G (p.Glu541Gly) c.1568A>G (p.Glu523Gly) c.1472A>G (p.Glu491Gly) c.1442A>G (p.Glu481Gly) c.1367A>G (p.Glu456Gly) c.1265A>G (p.Glu422Gly) c.896A>G (p.Glu299Gly) | ClinVar |
| 5 | g.112834952A>T | CA16025131 | APC | c.1410A>T (p.Gly470=) c.1799A>T (p.Glu600Val) c.*1751A>T (n.*1751A>T) c.1691A>T (p.Glu564Val) c.1745A>T (p.Glu582Val) c.98A>T c.434A>T (p.Glu145Val) c.*1067A>T (n.*1067A>T) c.230+5980A>T c.1775A>T (p.Glu592Val) c.1670A>T (p.Glu557Val) c.1661A>T (p.Glu554Val) c.1622A>T (p.Glu541Val) c.1568A>T (p.Glu523Val) c.1472A>T (p.Glu491Val) c.1442A>T (p.Glu481Val) c.1367A>T (p.Glu456Val) c.1265A>T (p.Glu422Val) c.896A>T (p.Glu299Val) | COSMIC |
| 5 | g.112834953del | CA645562808 | APC | c.1411del (p.Ile471SerfsTer?) c.1800del (p.Glu600AspfsTer8) c.*1752del (n.*1752del) c.1692del (p.Glu564AspfsTer8) c.1746del (p.Glu582AspfsTer8) c.99del c.435del (p.Glu145AspfsTer8) c.*1068del (n.*1068del) c.230+5981del c.1776del (p.Glu592AspfsTer8) c.1671del (p.Glu557AspfsTer8) c.1662del (p.Glu554AspfsTer8) c.1623del (p.Glu541AspfsTer8) c.1569del (p.Glu523AspfsTer8) c.1473del (p.Glu491AspfsTer8) c.1443del (p.Glu481AspfsTer8) c.1368del (p.Glu456AspfsTer8) c.1266del (p.Glu422AspfsTer8) c.897del (p.Glu299AspfsTer8) | COSMIC |
| 5 | g.112834953A= | CA1573470298 | APC | c.1411A= (p.Ile471=) c.1800A= (p.Glu600=) c.*1752A= (n.*1752A=) c.1692A= (p.Glu564=) c.1746A= (p.Glu582=) c.99A= c.435A= (p.Glu145=) c.*1068A= (n.*1068A=) c.230+5981A= c.1776A= (p.Glu592=) c.1671A= (p.Glu557=) c.1662A= (p.Glu554=) c.1623A= (p.Glu541=) c.1569A= (p.Glu523=) c.1473A= (p.Glu491=) c.1443A= (p.Glu481=) c.1368A= (p.Glu456=) c.1266A= (p.Glu422=) c.897A= (p.Glu299=) | |
| 5 | g.112834953A>C | CA16025132 | APC | c.1411A>C (p.Ile471Leu) c.1800A>C (p.Glu600Asp) c.*1752A>C (n.*1752A>C) c.1692A>C (p.Glu564Asp) c.1746A>C (p.Glu582Asp) c.99A>C c.435A>C (p.Glu145Asp) c.*1068A>C (n.*1068A>C) c.230+5981A>C c.1776A>C (p.Glu592Asp) c.1671A>C (p.Glu557Asp) c.1662A>C (p.Glu554Asp) c.1623A>C (p.Glu541Asp) c.1569A>C (p.Glu523Asp) c.1473A>C (p.Glu491Asp) c.1443A>C (p.Glu481Asp) c.1368A>C (p.Glu456Asp) c.1266A>C (p.Glu422Asp) c.897A>C (p.Glu299Asp) | |
| 5 | g.112834953A>G | CA10578326 | APC | c.1411A>G (p.Ile471Val) c.1800A>G (p.Glu600=) c.*1752A>G (n.*1752A>G) c.1692A>G (p.Glu564=) c.1746A>G (p.Glu582=) c.99A>G c.435A>G (p.Glu145=) c.*1068A>G (n.*1068A>G) c.230+5981A>G c.1776A>G (p.Glu592=) c.1671A>G (p.Glu557=) c.1662A>G (p.Glu554=) c.1623A>G (p.Glu541=) c.1569A>G (p.Glu523=) c.1473A>G (p.Glu491=) c.1443A>G (p.Glu481=) c.1368A>G (p.Glu456=) c.1266A>G (p.Glu422=) c.897A>G (p.Glu299=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112834953A>T | CA16025133 | APC | c.1411A>T (p.Ile471Phe) c.1800A>T (p.Glu600Asp) c.*1752A>T (n.*1752A>T) c.1692A>T (p.Glu564Asp) c.1746A>T (p.Glu582Asp) c.99A>T c.435A>T (p.Glu145Asp) c.*1068A>T (n.*1068A>T) c.230+5981A>T c.1776A>T (p.Glu592Asp) c.1671A>T (p.Glu557Asp) c.1662A>T (p.Glu554Asp) c.1623A>T (p.Glu541Asp) c.1569A>T (p.Glu523Asp) c.1473A>T (p.Glu491Asp) c.1443A>T (p.Glu481Asp) c.1368A>T (p.Glu456Asp) c.1266A>T (p.Glu422Asp) c.897A>T (p.Glu299Asp) | ClinVar dbSNP |
| 5 | g.112834954T>A | CA16025134 | APC | c.1412T>A (p.Ile471Asn) c.1801T>A (p.Ser601Thr) c.*1753T>A (n.*1753T>A) c.1693T>A (p.Ser565Thr) c.1747T>A (p.Ser583Thr) c.100T>A c.436T>A (p.Ser146Thr) c.*1069T>A (n.*1069T>A) c.230+5982T>A c.1777T>A (p.Ser593Thr) c.1672T>A (p.Ser558Thr) c.1663T>A (p.Ser555Thr) c.1624T>A (p.Ser542Thr) c.1570T>A (p.Ser524Thr) c.1474T>A (p.Ser492Thr) c.1444T>A (p.Ser482Thr) c.1369T>A (p.Ser457Thr) c.1267T>A (p.Ser423Thr) c.898T>A (p.Ser300Thr) | dbSNP |
| 5 | g.112834954T>C | CA16025135 | APC | c.1412T>C (p.Ile471Thr) c.1801T>C (p.Ser601Pro) c.*1753T>C (n.*1753T>C) c.1693T>C (p.Ser565Pro) c.1747T>C (p.Ser583Pro) c.100T>C c.436T>C (p.Ser146Pro) c.*1069T>C (n.*1069T>C) c.230+5982T>C c.1777T>C (p.Ser593Pro) c.1672T>C (p.Ser558Pro) c.1663T>C (p.Ser555Pro) c.1624T>C (p.Ser542Pro) c.1570T>C (p.Ser524Pro) c.1474T>C (p.Ser492Pro) c.1444T>C (p.Ser482Pro) c.1369T>C (p.Ser457Pro) c.1267T>C (p.Ser423Pro) c.898T>C (p.Ser300Pro) | ClinVar dbSNP |
| 5 | g.112834954T>G | CA16025136 | APC | c.1412T>G (p.Ile471Ser) c.1801T>G (p.Ser601Ala) c.*1753T>G (n.*1753T>G) c.1693T>G (p.Ser565Ala) c.1747T>G (p.Ser583Ala) c.100T>G c.436T>G (p.Ser146Ala) c.*1069T>G (n.*1069T>G) c.230+5982T>G c.1777T>G (p.Ser593Ala) c.1672T>G (p.Ser558Ala) c.1663T>G (p.Ser555Ala) c.1624T>G (p.Ser542Ala) c.1570T>G (p.Ser524Ala) c.1474T>G (p.Ser492Ala) c.1444T>G (p.Ser482Ala) c.1369T>G (p.Ser457Ala) c.1267T>G (p.Ser423Ala) c.898T>G (p.Ser300Ala) | ClinVar dbSNP |
| 5 | g.112834954T= | CA1573470311 | APC | c.1412T= (p.Ile471=) c.1801T= (p.Ser601=) c.*1753T= (n.*1753T=) c.1693T= (p.Ser565=) c.1747T= (p.Ser583=) c.100T= c.436T= (p.Ser146=) c.*1069T= (n.*1069T=) c.230+5982T= c.1777T= (p.Ser593=) c.1672T= (p.Ser558=) c.1663T= (p.Ser555=) c.1624T= (p.Ser542=) c.1570T= (p.Ser524=) c.1474T= (p.Ser492=) c.1444T= (p.Ser482=) c.1369T= (p.Ser457=) c.1267T= (p.Ser423=) c.898T= (p.Ser300=) | |
| 5 | g.112834955C>A | CA16025137 | APC | c.1413C>A (p.Ile471=) c.1802C>A (p.Ser601Ter) c.*1754C>A (n.*1754C>A) c.1694C>A (p.Ser565Ter) c.1748C>A (p.Ser583Ter) c.101C>A c.437C>A (p.Ser146Ter) c.*1070C>A (n.*1070C>A) c.230+5983C>A c.1778C>A (p.Ser593Ter) c.1673C>A (p.Ser558Ter) c.1664C>A (p.Ser555Ter) c.1625C>A (p.Ser542Ter) c.1571C>A (p.Ser524Ter) c.1475C>A (p.Ser492Ter) c.1445C>A (p.Ser482Ter) c.1370C>A (p.Ser457Ter) c.1268C>A (p.Ser423Ter) c.899C>A (p.Ser300Ter) | ClinVar dbSNP |
| 5 | g.112834955C>G | CA16025138 | APC | c.1413C>G (p.Ile471Met) c.1802C>G (p.Ser601Ter) c.*1754C>G (n.*1754C>G) c.1694C>G (p.Ser565Ter) c.1748C>G (p.Ser583Ter) c.101C>G c.437C>G (p.Ser146Ter) c.*1070C>G (n.*1070C>G) c.230+5983C>G c.1778C>G (p.Ser593Ter) c.1673C>G (p.Ser558Ter) c.1664C>G (p.Ser555Ter) c.1625C>G (p.Ser542Ter) c.1571C>G (p.Ser524Ter) c.1475C>G (p.Ser492Ter) c.1445C>G (p.Ser482Ter) c.1370C>G (p.Ser457Ter) c.1268C>G (p.Ser423Ter) c.899C>G (p.Ser300Ter) | dbSNP COSMIC |
| 5 | g.112834955C>T | CA16025139 | APC | c.1413C>T (p.Ile471=) c.1802C>T (p.Ser601Leu) c.*1754C>T (n.*1754C>T) c.1694C>T (p.Ser565Leu) c.1748C>T (p.Ser583Leu) c.101C>T c.437C>T (p.Ser146Leu) c.*1070C>T (n.*1070C>T) c.230+5983C>T c.1778C>T (p.Ser593Leu) c.1673C>T (p.Ser558Leu) c.1664C>T (p.Ser555Leu) c.1625C>T (p.Ser542Leu) c.1571C>T (p.Ser524Leu) c.1475C>T (p.Ser492Leu) c.1445C>T (p.Ser482Leu) c.1370C>T (p.Ser457Leu) c.1268C>T (p.Ser423Leu) c.899C>T (p.Ser300Leu) | dbSNP |
| 5 | g.112834955dup | CA2695205036 | APC | c.1413dup (p.Asn472GlnfsTer7) c.1802dup (p.Thr602AsnfsTer18) c.*1754dup (n.*1754dup) c.1694dup (p.Thr566AsnfsTer18) c.1748dup (p.Thr584AsnfsTer18) c.101dup c.437dup (p.Thr147AsnfsTer18) c.*1070dup (n.*1070dup) c.230+5983dup c.1778dup (p.Thr594AsnfsTer18) c.1673dup (p.Thr559AsnfsTer18) c.1664dup (p.Thr556AsnfsTer18) c.1625dup (p.Thr543AsnfsTer18) c.1571dup (p.Thr525AsnfsTer18) c.1475dup (p.Thr493AsnfsTer18) c.1445dup (p.Thr483AsnfsTer18) c.1370dup (p.Thr458AsnfsTer18) c.1268dup (p.Thr424AsnfsTer18) c.899dup (p.Thr301AsnfsTer18) | |
| 5 | g.112834955_112834963del | CA658760546 | APC | c.1413_1421del (p.Asn472_Gln474del) c.1802_1810del (p.Ser601Ter) c.*1754_*1762del (n.*1754_*1762del) c.1694_1702del (p.Ser565Ter) c.1748_1756del (p.Ser583Ter) c.101_109del c.437_445del (p.Ser146Ter) c.*1070_*1078del (n.*1070_*1078del) c.230+5983_230+5991del c.1778_1786del (p.Ser593Ter) c.1673_1681del (p.Ser558Ter) c.1664_1672del (p.Ser555Ter) c.1625_1633del (p.Ser542Ter) c.1571_1579del (p.Ser524Ter) c.1475_1483del (p.Ser492Ter) c.1445_1453del (p.Ser482Ter) c.1370_1378del (p.Ser457Ter) c.1268_1276del (p.Ser423Ter) c.899_907del (p.Ser300Ter) | |
| 5 | g.112834956A= | CA1573470319 | APC | c.1414A= (p.Asn472=) c.1803A= (p.Ser601=) c.*1755A= (n.*1755A=) c.1695A= (p.Ser565=) c.1749A= (p.Ser583=) c.102A= c.438A= (p.Ser146=) c.*1071A= (n.*1071A=) c.230+5984A= c.1779A= (p.Ser593=) c.1674A= (p.Ser558=) c.1665A= (p.Ser555=) c.1626A= (p.Ser542=) c.1572A= (p.Ser524=) c.1476A= (p.Ser492=) c.1446A= (p.Ser482=) c.1371A= (p.Ser457=) c.1269A= (p.Ser423=) c.900A= (p.Ser300=) | |
| 5 | g.112834956A>C | CA445758350 | APC | c.1414A>C (p.Asn472His) c.1803A>C (p.Ser601=) c.*1755A>C (n.*1755A>C) c.1695A>C (p.Ser565=) c.1749A>C (p.Ser583=) c.102A>C c.438A>C (p.Ser146=) c.*1071A>C (n.*1071A>C) c.230+5984A>C c.1779A>C (p.Ser593=) c.1674A>C (p.Ser558=) c.1665A>C (p.Ser555=) c.1626A>C (p.Ser542=) c.1572A>C (p.Ser524=) c.1476A>C (p.Ser492=) c.1446A>C (p.Ser482=) c.1371A>C (p.Ser457=) c.1269A>C (p.Ser423=) c.900A>C (p.Ser300=) | ClinVar dbSNP |
| 5 | g.112834956A>G | CA445758351 | APC | c.1414A>G (p.Asn472Asp) c.1803A>G (p.Ser601=) c.*1755A>G (n.*1755A>G) c.1695A>G (p.Ser565=) c.1749A>G (p.Ser583=) c.102A>G c.438A>G (p.Ser146=) c.*1071A>G (n.*1071A>G) c.230+5984A>G c.1779A>G (p.Ser593=) c.1674A>G (p.Ser558=) c.1665A>G (p.Ser555=) c.1626A>G (p.Ser542=) c.1572A>G (p.Ser524=) c.1476A>G (p.Ser492=) c.1446A>G (p.Ser482=) c.1371A>G (p.Ser457=) c.1269A>G (p.Ser423=) c.900A>G (p.Ser300=) | ClinVar dbSNP |
| 5 | g.112834956A>T | CA445758353 | APC | c.1414A>T (p.Asn472Tyr) c.1803A>T (p.Ser601=) c.*1755A>T (n.*1755A>T) c.1695A>T (p.Ser565=) c.1749A>T (p.Ser583=) c.102A>T c.438A>T (p.Ser146=) c.*1071A>T (n.*1071A>T) c.230+5984A>T c.1779A>T (p.Ser593=) c.1674A>T (p.Ser558=) c.1665A>T (p.Ser555=) c.1626A>T (p.Ser542=) c.1572A>T (p.Ser524=) c.1476A>T (p.Ser492=) c.1446A>T (p.Ser482=) c.1371A>T (p.Ser457=) c.1269A>T (p.Ser423=) c.900A>T (p.Ser300=) | dbSNP |
| 5 | g.112834957A= | CA1573470348 | APC | c.1415A= (p.Asn472=) c.1804A= (p.Thr602=) c.*1756A= (n.*1756A=) c.1696A= (p.Thr566=) c.1750A= (p.Thr584=) c.103A= c.439A= (p.Thr147=) c.*1072A= (n.*1072A=) c.230+5985A= c.1780A= (p.Thr594=) c.1675A= (p.Thr559=) c.1666A= (p.Thr556=) c.1627A= (p.Thr543=) c.1573A= (p.Thr525=) c.1477A= (p.Thr493=) c.1447A= (p.Thr483=) c.1372A= (p.Thr458=) c.1270A= (p.Thr424=) c.901A= (p.Thr301=) | |
| 5 | g.112834957A>C | CA16025140 | APC | c.1415A>C (p.Asn472Thr) c.1804A>C (p.Thr602Pro) c.*1756A>C (n.*1756A>C) c.1696A>C (p.Thr566Pro) c.1750A>C (p.Thr584Pro) c.103A>C c.439A>C (p.Thr147Pro) c.*1072A>C (n.*1072A>C) c.230+5985A>C c.1780A>C (p.Thr594Pro) c.1675A>C (p.Thr559Pro) c.1666A>C (p.Thr556Pro) c.1627A>C (p.Thr543Pro) c.1573A>C (p.Thr525Pro) c.1477A>C (p.Thr493Pro) c.1447A>C (p.Thr483Pro) c.1372A>C (p.Thr458Pro) c.1270A>C (p.Thr424Pro) c.901A>C (p.Thr301Pro) | |
| 5 | g.112834957A>G | CA16025141 | APC | c.1415A>G (p.Asn472Ser) c.1804A>G (p.Thr602Ala) c.*1756A>G (n.*1756A>G) c.1696A>G (p.Thr566Ala) c.1750A>G (p.Thr584Ala) c.103A>G c.439A>G (p.Thr147Ala) c.*1072A>G (n.*1072A>G) c.230+5985A>G c.1780A>G (p.Thr594Ala) c.1675A>G (p.Thr559Ala) c.1666A>G (p.Thr556Ala) c.1627A>G (p.Thr543Ala) c.1573A>G (p.Thr525Ala) c.1477A>G (p.Thr493Ala) c.1447A>G (p.Thr483Ala) c.1372A>G (p.Thr458Ala) c.1270A>G (p.Thr424Ala) c.901A>G (p.Thr301Ala) | |
| 5 | g.112834957A>T | CA16025142 | APC | c.1415A>T (p.Asn472Ile) c.1804A>T (p.Thr602Ser) c.*1756A>T (n.*1756A>T) c.1696A>T (p.Thr566Ser) c.1750A>T (p.Thr584Ser) c.103A>T c.439A>T (p.Thr147Ser) c.*1072A>T (n.*1072A>T) c.230+5985A>T c.1780A>T (p.Thr594Ser) c.1675A>T (p.Thr559Ser) c.1666A>T (p.Thr556Ser) c.1627A>T (p.Thr543Ser) c.1573A>T (p.Thr525Ser) c.1477A>T (p.Thr493Ser) c.1447A>T (p.Thr483Ser) c.1372A>T (p.Thr458Ser) c.1270A>T (p.Thr424Ser) c.901A>T (p.Thr301Ser) | ClinVar dbSNP |
| 5 | g.112834957_112834958delinsAC | CA1573470346 | APC | c.1415_1416delinsAC (p.Asn472=) c.1804_1805delinsAC (p.Thr602=) c.*1756_*1757delinsAC (n.*1756_*1757delinsAC) c.1696_1697delinsAC (p.Thr566=) c.1750_1751delinsAC (p.Thr584=) c.103_104delinsAC c.439_440delinsAC (p.Thr147=) c.*1072_*1073delinsAC (n.*1072_*1073delinsAC) c.230+5985_230+5986delinsAC c.1780_1781delinsAC (p.Thr594=) c.1675_1676delinsAC (p.Thr559=) c.1666_1667delinsAC (p.Thr556=) c.1627_1628delinsAC (p.Thr543=) c.1573_1574delinsAC (p.Thr525=) c.1477_1478delinsAC (p.Thr493=) c.1447_1448delinsAC (p.Thr483=) c.1372_1373delinsAC (p.Thr458=) c.1270_1271delinsAC (p.Thr424=) c.901_902delinsAC (p.Thr301=) | |
| 5 | g.112834958C>A | CA16025143 | APC | c.1416C>A (p.Asn472Lys) c.1805C>A (p.Thr602Asn) c.*1757C>A (n.*1757C>A) c.1697C>A (p.Thr566Asn) c.1751C>A (p.Thr584Asn) c.104C>A c.440C>A (p.Thr147Asn) c.*1073C>A (n.*1073C>A) c.230+5986C>A c.1781C>A (p.Thr594Asn) c.1676C>A (p.Thr559Asn) c.1667C>A (p.Thr556Asn) c.1628C>A (p.Thr543Asn) c.1574C>A (p.Thr525Asn) c.1478C>A (p.Thr493Asn) c.1448C>A (p.Thr483Asn) c.1373C>A (p.Thr458Asn) c.1271C>A (p.Thr424Asn) c.902C>A (p.Thr301Asn) | dbSNP |
| 5 | g.112834958C>G | CA16025144 | APC | c.1416C>G (p.Asn472Lys) c.1805C>G (p.Thr602Ser) c.*1757C>G (n.*1757C>G) c.1697C>G (p.Thr566Ser) c.1751C>G (p.Thr584Ser) c.104C>G c.440C>G (p.Thr147Ser) c.*1073C>G (n.*1073C>G) c.230+5986C>G c.1781C>G (p.Thr594Ser) c.1676C>G (p.Thr559Ser) c.1667C>G (p.Thr556Ser) c.1628C>G (p.Thr543Ser) c.1574C>G (p.Thr525Ser) c.1478C>G (p.Thr493Ser) c.1448C>G (p.Thr483Ser) c.1373C>G (p.Thr458Ser) c.1271C>G (p.Thr424Ser) c.902C>G (p.Thr301Ser) | dbSNP |
| 5 | g.112834958C>T | CA16025145 | APC | c.1416C>T (p.Asn472=) c.1805C>T (p.Thr602Ile) c.*1757C>T (n.*1757C>T) c.1697C>T (p.Thr566Ile) c.1751C>T (p.Thr584Ile) c.104C>T c.440C>T (p.Thr147Ile) c.*1073C>T (n.*1073C>T) c.230+5986C>T c.1781C>T (p.Thr594Ile) c.1676C>T (p.Thr559Ile) c.1667C>T (p.Thr556Ile) c.1628C>T (p.Thr543Ile) c.1574C>T (p.Thr525Ile) c.1478C>T (p.Thr493Ile) c.1448C>T (p.Thr483Ile) c.1373C>T (p.Thr458Ile) c.1271C>T (p.Thr424Ile) c.902C>T (p.Thr301Ile) | dbSNP |
| 5 | g.112834960dup | CA658760549 | APC | c.1418dup (p.Gln474SerfsTer5) c.1807dup (p.Leu603ProfsTer17) c.*1759dup (n.*1759dup) c.1699dup (p.Leu567ProfsTer17) c.1753dup (p.Leu585ProfsTer17) c.106dup c.442dup (p.Leu148ProfsTer17) c.*1075dup (n.*1075dup) c.230+5988dup c.1783dup (p.Leu595ProfsTer17) c.1678dup (p.Leu560ProfsTer17) c.1669dup (p.Leu557ProfsTer17) c.1630dup (p.Leu544ProfsTer17) c.1576dup (p.Leu526ProfsTer17) c.1480dup (p.Leu494ProfsTer17) c.1450dup (p.Leu484ProfsTer17) c.1375dup (p.Leu459ProfsTer17) c.1273dup (p.Leu425ProfsTer17) c.904dup (p.Leu302ProfsTer17) | |
| 5 | g.112834960del | CA915942606 | APC | c.1418del (p.Pro473LeufsTer?) c.1807del (p.Leu603SerfsTer5) c.*1759del (n.*1759del) c.1699del (p.Leu567SerfsTer5) c.1753del (p.Leu585SerfsTer5) c.106del c.442del (p.Leu148SerfsTer5) c.*1075del (n.*1075del) c.230+5988del c.1783del (p.Leu595SerfsTer5) c.1678del (p.Leu560SerfsTer5) c.1669del (p.Leu557SerfsTer5) c.1630del (p.Leu544SerfsTer5) c.1576del (p.Leu526SerfsTer5) c.1480del (p.Leu494SerfsTer5) c.1450del (p.Leu484SerfsTer5) c.1375del (p.Leu459SerfsTer5) c.1273del (p.Leu425SerfsTer5) c.904del (p.Leu302SerfsTer5) | ClinVar dbSNP |
| 5 | g.112834959C>A | CA445758365 | APC | c.1417C>A (p.Pro473Thr) c.1806C>A (p.Thr602=) c.*1758C>A (n.*1758C>A) c.1698C>A (p.Thr566=) c.1752C>A (p.Thr584=) c.105C>A c.441C>A (p.Thr147=) c.*1074C>A (n.*1074C>A) c.230+5987C>A c.1782C>A (p.Thr594=) c.1677C>A (p.Thr559=) c.1668C>A (p.Thr556=) c.1629C>A (p.Thr543=) c.1575C>A (p.Thr525=) c.1479C>A (p.Thr493=) c.1449C>A (p.Thr483=) c.1374C>A (p.Thr458=) c.1272C>A (p.Thr424=) c.903C>A (p.Thr301=) | ClinVar dbSNP |