Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112834949_112835166delCA2499217458APCc.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
5g.112834952_112835166delCA658683035APCc.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
5g.112835008G>ACA16025258APCc.1466G>A (p.Ter489=)
c.1855G>A (p.Glu619Lys)
c.*1807G>A (n.*1807G>A)
c.1747G>A (p.Glu583Lys)
c.1801G>A (p.Glu601Lys)
c.154G>A
c.490G>A (p.Glu164Lys)
c.*1123G>A (n.*1123G>A)
c.230+6036G>A
c.1831G>A (p.Glu611Lys)
c.1726G>A (p.Glu576Lys)
c.1717G>A (p.Glu573Lys)
c.1678G>A (p.Glu560Lys)
c.1624G>A (p.Glu542Lys)
c.1528G>A (p.Glu510Lys)
c.1498G>A (p.Glu500Lys)
c.1423G>A (p.Glu475Lys)
c.1321G>A (p.Glu441Lys)
c.952G>A (p.Glu318Lys)
5g.112835008G>CCA16025259APCc.1466G>C (p.Ter489Ser)
c.1855G>C (p.Glu619Gln)
c.*1807G>C (n.*1807G>C)
c.1747G>C (p.Glu583Gln)
c.1801G>C (p.Glu601Gln)
c.154G>C
c.490G>C (p.Glu164Gln)
c.*1123G>C (n.*1123G>C)
c.230+6036G>C
c.1831G>C (p.Glu611Gln)
c.1726G>C (p.Glu576Gln)
c.1717G>C (p.Glu573Gln)
c.1678G>C (p.Glu560Gln)
c.1624G>C (p.Glu542Gln)
c.1528G>C (p.Glu510Gln)
c.1498G>C (p.Glu500Gln)
c.1423G>C (p.Glu475Gln)
c.1321G>C (p.Glu441Gln)
c.952G>C (p.Glu318Gln)
dbSNP
5g.112835008G>TCA16025260APCc.1466G>T (p.Ter489Leu)
c.1855G>T (p.Glu619Ter)
c.*1807G>T (n.*1807G>T)
c.1747G>T (p.Glu583Ter)
c.1801G>T (p.Glu601Ter)
c.154G>T
c.490G>T (p.Glu164Ter)
c.*1123G>T (n.*1123G>T)
c.230+6036G>T
c.1831G>T (p.Glu611Ter)
c.1726G>T (p.Glu576Ter)
c.1717G>T (p.Glu573Ter)
c.1678G>T (p.Glu560Ter)
c.1624G>T (p.Glu542Ter)
c.1528G>T (p.Glu510Ter)
c.1498G>T (p.Glu500Ter)
c.1423G>T (p.Glu475Ter)
c.1321G>T (p.Glu441Ter)
c.952G>T (p.Glu318Ter)
ClinVar dbSNP
5g.112835009A=CA1573470614APCc.1467A= (p.Ter489=)
c.1856A= (p.Glu619=)
c.*1808A= (n.*1808A=)
c.1748A= (p.Glu583=)
c.1802A= (p.Glu601=)
c.155A=
c.491A= (p.Glu164=)
c.*1124A= (n.*1124A=)
c.230+6037A=
c.1832A= (p.Glu611=)
c.1727A= (p.Glu576=)
c.1718A= (p.Glu573=)
c.1679A= (p.Glu560=)
c.1625A= (p.Glu542=)
c.1529A= (p.Glu510=)
c.1499A= (p.Glu500=)
c.1424A= (p.Glu475=)
c.1322A= (p.Glu441=)
c.953A= (p.Glu318=)
5g.112835009A>CCA16025261APCc.1467A>C (p.Ter489Cys)
c.1856A>C (p.Glu619Ala)
c.*1808A>C (n.*1808A>C)
c.1748A>C (p.Glu583Ala)
c.1802A>C (p.Glu601Ala)
c.155A>C
c.491A>C (p.Glu164Ala)
c.*1124A>C (n.*1124A>C)
c.230+6037A>C
c.1832A>C (p.Glu611Ala)
c.1727A>C (p.Glu576Ala)
c.1718A>C (p.Glu573Ala)
c.1679A>C (p.Glu560Ala)
c.1625A>C (p.Glu542Ala)
c.1529A>C (p.Glu510Ala)
c.1499A>C (p.Glu500Ala)
c.1424A>C (p.Glu475Ala)
c.1322A>C (p.Glu441Ala)
c.953A>C (p.Glu318Ala)
5g.112835009A>GCA16025262APCc.1467A>G (p.Ter489Trp)
c.1856A>G (p.Glu619Gly)
c.*1808A>G (n.*1808A>G)
c.1748A>G (p.Glu583Gly)
c.1802A>G (p.Glu601Gly)
c.155A>G
c.491A>G (p.Glu164Gly)
c.*1124A>G (n.*1124A>G)
c.230+6037A>G
c.1832A>G (p.Glu611Gly)
c.1727A>G (p.Glu576Gly)
c.1718A>G (p.Glu573Gly)
c.1679A>G (p.Glu560Gly)
c.1625A>G (p.Glu542Gly)
c.1529A>G (p.Glu510Gly)
c.1499A>G (p.Glu500Gly)
c.1424A>G (p.Glu475Gly)
c.1322A>G (p.Glu441Gly)
c.953A>G (p.Glu318Gly)
ClinVar dbSNP
5g.112835009A>TCA16025263APCc.1467A>T (p.Ter489Cys)
c.1856A>T (p.Glu619Val)
c.*1808A>T (n.*1808A>T)
c.1748A>T (p.Glu583Val)
c.1802A>T (p.Glu601Val)
c.155A>T
c.491A>T (p.Glu164Val)
c.*1124A>T (n.*1124A>T)
c.230+6037A>T
c.1832A>T (p.Glu611Val)
c.1727A>T (p.Glu576Val)
c.1718A>T (p.Glu573Val)
c.1679A>T (p.Glu560Val)
c.1625A>T (p.Glu542Val)
c.1529A>T (p.Glu510Val)
c.1499A>T (p.Glu500Val)
c.1424A>T (p.Glu475Val)
c.1322A>T (p.Glu441Val)
c.953A>T (p.Glu318Val)
dbSNP
5g.112835010G>ACA445758847APCc.1468G>A (n.1468G>A)
c.1857G>A (p.Glu619=)
c.*1809G>A (n.*1809G>A)
c.1749G>A (p.Glu583=)
c.1803G>A (p.Glu601=)
c.156G>A
c.492G>A (p.Glu164=)
c.*1125G>A (n.*1125G>A)
c.230+6038G>A
c.1833G>A (p.Glu611=)
c.1728G>A (p.Glu576=)
c.1719G>A (p.Glu573=)
c.1680G>A (p.Glu560=)
c.1626G>A (p.Glu542=)
c.1530G>A (p.Glu510=)
c.1500G>A (p.Glu500=)
c.1425G>A (p.Glu475=)
c.1323G>A (p.Glu441=)
c.954G>A (p.Glu318=)
dbSNP
5g.112835010G>CCA16025264APCc.1468G>C (n.1468G>C)
c.1857G>C (p.Glu619Asp)
c.*1809G>C (n.*1809G>C)
c.1749G>C (p.Glu583Asp)
c.1803G>C (p.Glu601Asp)
c.156G>C
c.492G>C (p.Glu164Asp)
c.*1125G>C (n.*1125G>C)
c.230+6038G>C
c.1833G>C (p.Glu611Asp)
c.1728G>C (p.Glu576Asp)
c.1719G>C (p.Glu573Asp)
c.1680G>C (p.Glu560Asp)
c.1626G>C (p.Glu542Asp)
c.1530G>C (p.Glu510Asp)
c.1500G>C (p.Glu500Asp)
c.1425G>C (p.Glu475Asp)
c.1323G>C (p.Glu441Asp)
c.954G>C (p.Glu318Asp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112835010G=CA1573470622APCc.1468G= (n.1468G=)
c.1857G= (p.Glu619=)
c.*1809G= (n.*1809G=)
c.1749G= (p.Glu583=)
c.1803G= (p.Glu601=)
c.156G=
c.492G= (p.Glu164=)
c.*1125G= (n.*1125G=)
c.230+6038G=
c.1833G= (p.Glu611=)
c.1728G= (p.Glu576=)
c.1719G= (p.Glu573=)
c.1680G= (p.Glu560=)
c.1626G= (p.Glu542=)
c.1530G= (p.Glu510=)
c.1500G= (p.Glu500=)
c.1425G= (p.Glu475=)
c.1323G= (p.Glu441=)
c.954G= (p.Glu318=)
5g.112835010G>TCA16025265APCc.1468G>T (n.1468G>T)
c.1857G>T (p.Glu619Asp)
c.*1809G>T (n.*1809G>T)
c.1749G>T (p.Glu583Asp)
c.1803G>T (p.Glu601Asp)
c.156G>T
c.492G>T (p.Glu164Asp)
c.*1125G>T (n.*1125G>T)
c.230+6038G>T
c.1833G>T (p.Glu611Asp)
c.1728G>T (p.Glu576Asp)
c.1719G>T (p.Glu573Asp)
c.1680G>T (p.Glu560Asp)
c.1626G>T (p.Glu542Asp)
c.1530G>T (p.Glu510Asp)
c.1500G>T (p.Glu500Asp)
c.1425G>T (p.Glu475Asp)
c.1323G>T (p.Glu441Asp)
c.954G>T (p.Glu318Asp)
ClinVar
5g.112835011A>CCA16025266APCc.1469A>C (n.1469A>C)
c.1858A>C (p.Asn620His)
c.*1810A>C (n.*1810A>C)
c.1750A>C (p.Asn584His)
c.1804A>C (p.Asn602His)
c.157A>C
c.493A>C (p.Asn165His)
c.*1126A>C (n.*1126A>C)
c.230+6039A>C
c.1834A>C (p.Asn612His)
c.1729A>C (p.Asn577His)
c.1720A>C (p.Asn574His)
c.1681A>C (p.Asn561His)
c.1627A>C (p.Asn543His)
c.1531A>C (p.Asn511His)
c.1501A>C (p.Asn501His)
c.1426A>C (p.Asn476His)
c.1324A>C (p.Asn442His)
c.955A>C (p.Asn319His)
5g.112835011A>GCA16025267APCc.1469A>G (n.1469A>G)
c.1858A>G (p.Asn620Asp)
c.*1810A>G (n.*1810A>G)
c.1750A>G (p.Asn584Asp)
c.1804A>G (p.Asn602Asp)
c.157A>G
c.493A>G (p.Asn165Asp)
c.*1126A>G (n.*1126A>G)
c.230+6039A>G
c.1834A>G (p.Asn612Asp)
c.1729A>G (p.Asn577Asp)
c.1720A>G (p.Asn574Asp)
c.1681A>G (p.Asn561Asp)
c.1627A>G (p.Asn543Asp)
c.1531A>G (p.Asn511Asp)
c.1501A>G (p.Asn501Asp)
c.1426A>G (p.Asn476Asp)
c.1324A>G (p.Asn442Asp)
c.955A>G (p.Asn319Asp)
5g.112835011A>TCA16025268APCc.1469A>T (n.1469A>T)
c.1858A>T (p.Asn620Tyr)
c.*1810A>T (n.*1810A>T)
c.1750A>T (p.Asn584Tyr)
c.1804A>T (p.Asn602Tyr)
c.157A>T
c.493A>T (p.Asn165Tyr)
c.*1126A>T (n.*1126A>T)
c.230+6039A>T
c.1834A>T (p.Asn612Tyr)
c.1729A>T (p.Asn577Tyr)
c.1720A>T (p.Asn574Tyr)
c.1681A>T (p.Asn561Tyr)
c.1627A>T (p.Asn543Tyr)
c.1531A>T (p.Asn511Tyr)
c.1501A>T (p.Asn501Tyr)
c.1426A>T (p.Asn476Tyr)
c.1324A>T (p.Asn442Tyr)
c.955A>T (p.Asn319Tyr)
ClinVar dbSNP
5g.112835012delCA2695205041APCc.1470del (n.1470del)
c.1859del (p.Asn620IlefsTer8)
c.*1811del (n.*1811del)
c.1751del (p.Asn584IlefsTer8)
c.1805del (p.Asn602IlefsTer8)
c.158del
c.494del (p.Asn165IlefsTer8)
c.*1127del (n.*1127del)
c.230+6040del
c.1835del (p.Asn612IlefsTer8)
c.1730del (p.Asn577IlefsTer8)
c.1721del (p.Asn574IlefsTer8)
c.1682del (p.Asn561IlefsTer8)
c.1628del (p.Asn543IlefsTer8)
c.1532del (p.Asn511IlefsTer8)
c.1502del (p.Asn501IlefsTer8)
c.1427del (p.Asn476IlefsTer8)
c.1325del (p.Asn442IlefsTer8)
c.956del (p.Asn319IlefsTer8)
5g.112835013_112835016delCA2582341324APCc.1471_1474del (n.1471_1474del)
c.1860_1863del (p.Asn620LysfsTer7)
c.*1812_*1815del (n.*1812_*1815del)
c.1752_1755del (p.Asn584LysfsTer7)
c.1806_1809del (p.Asn602LysfsTer7)
c.159_162del
c.495_498del (p.Asn165LysfsTer7)
c.*1128_*1131del (n.*1128_*1131del)
c.230+6041_230+6044del
c.1836_1839del (p.Asn612LysfsTer7)
c.1731_1734del (p.Asn577LysfsTer7)
c.1722_1725del (p.Asn574LysfsTer7)
c.1683_1686del (p.Asn561LysfsTer7)
c.1629_1632del (p.Asn543LysfsTer7)
c.1533_1536del (p.Asn511LysfsTer7)
c.1503_1506del (p.Asn501LysfsTer7)
c.1428_1431del (p.Asn476LysfsTer7)
c.1326_1329del (p.Asn442LysfsTer7)
c.957_960del (p.Asn319LysfsTer7)
ClinVar
5g.112835012A=CA1573470639APCc.1470A= (n.1470A=)
c.1859A= (p.Asn620=)
c.*1811A= (n.*1811A=)
c.1751A= (p.Asn584=)
c.1805A= (p.Asn602=)
c.158A=
c.494A= (p.Asn165=)
c.*1127A= (n.*1127A=)
c.230+6040A=
c.1835A= (p.Asn612=)
c.1730A= (p.Asn577=)
c.1721A= (p.Asn574=)
c.1682A= (p.Asn561=)
c.1628A= (p.Asn543=)
c.1532A= (p.Asn511=)
c.1502A= (p.Asn501=)
c.1427A= (p.Asn476=)
c.1325A= (p.Asn442=)
c.956A= (p.Asn319=)
5g.112835012A>CCA16025269APCc.1470A>C (n.1470A>C)
c.1859A>C (p.Asn620Thr)
c.*1811A>C (n.*1811A>C)
c.1751A>C (p.Asn584Thr)
c.1805A>C (p.Asn602Thr)
c.158A>C
c.494A>C (p.Asn165Thr)
c.*1127A>C (n.*1127A>C)
c.230+6040A>C
c.1835A>C (p.Asn612Thr)
c.1730A>C (p.Asn577Thr)
c.1721A>C (p.Asn574Thr)
c.1682A>C (p.Asn561Thr)
c.1628A>C (p.Asn543Thr)
c.1532A>C (p.Asn511Thr)
c.1502A>C (p.Asn501Thr)
c.1427A>C (p.Asn476Thr)
c.1325A>C (p.Asn442Thr)
c.956A>C (p.Asn319Thr)
5g.112835012A>GCA16025270APCc.1470A>G (n.1470A>G)
c.1859A>G (p.Asn620Ser)
c.*1811A>G (n.*1811A>G)
c.1751A>G (p.Asn584Ser)
c.1805A>G (p.Asn602Ser)
c.158A>G
c.494A>G (p.Asn165Ser)
c.*1127A>G (n.*1127A>G)
c.230+6040A>G
c.1835A>G (p.Asn612Ser)
c.1730A>G (p.Asn577Ser)
c.1721A>G (p.Asn574Ser)
c.1682A>G (p.Asn561Ser)
c.1628A>G (p.Asn543Ser)
c.1532A>G (p.Asn511Ser)
c.1502A>G (p.Asn501Ser)
c.1427A>G (p.Asn476Ser)
c.1325A>G (p.Asn442Ser)
c.956A>G (p.Asn319Ser)
ClinVar dbSNP
5g.112835012A>TCA16025271APCc.1470A>T (n.1470A>T)
c.1859A>T (p.Asn620Ile)
c.*1811A>T (n.*1811A>T)
c.1751A>T (p.Asn584Ile)
c.1805A>T (p.Asn602Ile)
c.158A>T
c.494A>T (p.Asn165Ile)
c.*1127A>T (n.*1127A>T)
c.230+6040A>T
c.1835A>T (p.Asn612Ile)
c.1730A>T (p.Asn577Ile)
c.1721A>T (p.Asn574Ile)
c.1682A>T (p.Asn561Ile)
c.1628A>T (p.Asn543Ile)
c.1532A>T (p.Asn511Ile)
c.1502A>T (p.Asn501Ile)
c.1427A>T (p.Asn476Ile)
c.1325A>T (p.Asn442Ile)
c.956A>T (p.Asn319Ile)
ClinVar dbSNP
5g.112835013T>ACA16025272APCc.1471T>A (n.1471T>A)
c.1860T>A (p.Asn620Lys)
c.*1812T>A (n.*1812T>A)
c.1752T>A (p.Asn584Lys)
c.1806T>A (p.Asn602Lys)
c.159T>A
c.495T>A (p.Asn165Lys)
c.*1128T>A (n.*1128T>A)
c.230+6041T>A
c.1836T>A (p.Asn612Lys)
c.1731T>A (p.Asn577Lys)
c.1722T>A (p.Asn574Lys)
c.1683T>A (p.Asn561Lys)
c.1629T>A (p.Asn543Lys)
c.1533T>A (p.Asn511Lys)
c.1503T>A (p.Asn501Lys)
c.1428T>A (p.Asn476Lys)
c.1326T>A (p.Asn442Lys)
c.957T>A (p.Asn319Lys)
5g.112835013T>CCA445758848APCc.1471T>C (n.1471T>C)
c.1860T>C (p.Asn620=)
c.*1812T>C (n.*1812T>C)
c.1752T>C (p.Asn584=)
c.1806T>C (p.Asn602=)
c.159T>C
c.495T>C (p.Asn165=)
c.*1128T>C (n.*1128T>C)
c.230+6041T>C
c.1836T>C (p.Asn612=)
c.1731T>C (p.Asn577=)
c.1722T>C (p.Asn574=)
c.1683T>C (p.Asn561=)
c.1629T>C (p.Asn543=)
c.1533T>C (p.Asn511=)
c.1503T>C (p.Asn501=)
c.1428T>C (p.Asn476=)
c.1326T>C (p.Asn442=)
c.957T>C (p.Asn319=)
ClinVar dbSNP
5g.112835013T>GCA16025273APCc.1471T>G (n.1471T>G)
c.1860T>G (p.Asn620Lys)
c.*1812T>G (n.*1812T>G)
c.1752T>G (p.Asn584Lys)
c.1806T>G (p.Asn602Lys)
c.159T>G
c.495T>G (p.Asn165Lys)
c.*1128T>G (n.*1128T>G)
c.230+6041T>G
c.1836T>G (p.Asn612Lys)
c.1731T>G (p.Asn577Lys)
c.1722T>G (p.Asn574Lys)
c.1683T>G (p.Asn561Lys)
c.1629T>G (p.Asn543Lys)
c.1533T>G (p.Asn511Lys)
c.1503T>G (p.Asn501Lys)
c.1428T>G (p.Asn476Lys)
c.1326T>G (p.Asn442Lys)
c.957T>G (p.Asn319Lys)
5g.112835013_112835014delinsTACA1573470651APCc.1471_1472delinsTA (n.1471_1472delinsTA)
c.1860_1861delinsTA (p.Asn620=)
c.*1812_*1813delinsTA (n.*1812_*1813delinsTA)
c.1752_1753delinsTA (p.Asn584=)
c.1806_1807delinsTA (p.Asn602=)
c.159_160delinsTA
c.495_496delinsTA (p.Asn165=)
c.*1128_*1129delinsTA (n.*1128_*1129delinsTA)
c.230+6041_230+6042delinsTA
c.1836_1837delinsTA (p.Asn612=)
c.1731_1732delinsTA (p.Asn577=)
c.1722_1723delinsTA (p.Asn574=)
c.1683_1684delinsTA (p.Asn561=)
c.1629_1630delinsTA (p.Asn543=)
c.1533_1534delinsTA (p.Asn511=)
c.1503_1504delinsTA (p.Asn501=)
c.1428_1429delinsTA (p.Asn476=)
c.1326_1327delinsTA (p.Asn442=)
c.957_958delinsTA (p.Asn319=)
5g.112835014A>CCA16025274APCc.1472A>C (n.1472A>C)
c.1861A>C (p.Lys621Gln)
c.*1813A>C (n.*1813A>C)
c.1753A>C (p.Lys585Gln)
c.1807A>C (p.Lys603Gln)
c.160A>C
c.496A>C (p.Lys166Gln)
c.*1129A>C (n.*1129A>C)
c.230+6042A>C
c.1837A>C (p.Lys613Gln)
c.1732A>C (p.Lys578Gln)
c.1723A>C (p.Lys575Gln)
c.1684A>C (p.Lys562Gln)
c.1630A>C (p.Lys544Gln)
c.1534A>C (p.Lys512Gln)
c.1504A>C (p.Lys502Gln)
c.1429A>C (p.Lys477Gln)
c.1327A>C (p.Lys443Gln)
c.958A>C (p.Lys320Gln)
5g.112835014A>GCA16025275APCc.1472A>G (n.1472A>G)
c.1861A>G (p.Lys621Glu)
c.*1813A>G (n.*1813A>G)
c.1753A>G (p.Lys585Glu)
c.1807A>G (p.Lys603Glu)
c.160A>G
c.496A>G (p.Lys166Glu)
c.*1129A>G (n.*1129A>G)
c.230+6042A>G
c.1837A>G (p.Lys613Glu)
c.1732A>G (p.Lys578Glu)
c.1723A>G (p.Lys575Glu)
c.1684A>G (p.Lys562Glu)
c.1630A>G (p.Lys544Glu)
c.1534A>G (p.Lys512Glu)
c.1504A>G (p.Lys502Glu)
c.1429A>G (p.Lys477Glu)
c.1327A>G (p.Lys443Glu)
c.958A>G (p.Lys320Glu)
ClinVar dbSNP
5g.112835014A>TCA16025276APCc.1472A>T (n.1472A>T)
c.1861A>T (p.Lys621Ter)
c.*1813A>T (n.*1813A>T)
c.1753A>T (p.Lys585Ter)
c.1807A>T (p.Lys603Ter)
c.160A>T
c.496A>T (p.Lys166Ter)
c.*1129A>T (n.*1129A>T)
c.230+6042A>T
c.1837A>T (p.Lys613Ter)
c.1732A>T (p.Lys578Ter)
c.1723A>T (p.Lys575Ter)
c.1684A>T (p.Lys562Ter)
c.1630A>T (p.Lys544Ter)
c.1534A>T (p.Lys512Ter)
c.1504A>T (p.Lys502Ter)
c.1429A>T (p.Lys477Ter)
c.1327A>T (p.Lys443Ter)
c.958A>T (p.Lys320Ter)
dbSNP
5g.112835016dupCA2580072469APCc.1474dup (n.1474dup)
c.1863dup (p.Ala622SerfsTer2)
c.*1815dup (n.*1815dup)
c.1755dup (p.Ala586SerfsTer2)
c.1809dup (p.Ala604SerfsTer2)
c.162dup
c.498dup (p.Ala167SerfsTer2)
c.*1131dup (n.*1131dup)
c.230+6044dup
c.1839dup (p.Ala614SerfsTer2)
c.1734dup (p.Ala579SerfsTer2)
c.1725dup (p.Ala576SerfsTer2)
c.1686dup (p.Ala563SerfsTer2)
c.1632dup (p.Ala545SerfsTer2)
c.1536dup (p.Ala513SerfsTer2)
c.1506dup (p.Ala503SerfsTer2)
c.1431dup (p.Ala478SerfsTer2)
c.1329dup (p.Ala444SerfsTer2)
c.960dup (p.Ala321SerfsTer2)
ClinVar
5g.112835016delCA916080340APCc.1474del (n.1474del)
c.1863del (p.Ala622LeufsTer6)
c.*1815del (n.*1815del)
c.1755del (p.Ala586LeufsTer6)
c.1809del (p.Ala604LeufsTer6)
c.162del
c.498del (p.Ala167LeufsTer6)
c.*1131del (n.*1131del)
c.230+6044del
c.1839del (p.Ala614LeufsTer6)
c.1734del (p.Ala579LeufsTer6)
c.1725del (p.Ala576LeufsTer6)
c.1686del (p.Ala563LeufsTer6)
c.1632del (p.Ala545LeufsTer6)
c.1536del (p.Ala513LeufsTer6)
c.1506del (p.Ala503LeufsTer6)
c.1431del (p.Ala478LeufsTer6)
c.1329del (p.Ala444LeufsTer6)
c.960del (p.Ala321LeufsTer6)
ClinVar dbSNP
5g.112835015A>CCA16025277APCc.1473A>C (n.1473A>C)
c.1862A>C (p.Lys621Thr)
c.*1814A>C (n.*1814A>C)
c.1754A>C (p.Lys585Thr)
c.1808A>C (p.Lys603Thr)
c.161A>C
c.497A>C (p.Lys166Thr)
c.*1130A>C (n.*1130A>C)
c.230+6043A>C
c.1838A>C (p.Lys613Thr)
c.1733A>C (p.Lys578Thr)
c.1724A>C (p.Lys575Thr)
c.1685A>C (p.Lys562Thr)
c.1631A>C (p.Lys544Thr)
c.1535A>C (p.Lys512Thr)
c.1505A>C (p.Lys502Thr)
c.1430A>C (p.Lys477Thr)
c.1328A>C (p.Lys443Thr)
c.959A>C (p.Lys320Thr)
5g.112835015A>GCA16025278APCc.1473A>G (n.1473A>G)
c.1862A>G (p.Lys621Arg)
c.*1814A>G (n.*1814A>G)
c.1754A>G (p.Lys585Arg)
c.1808A>G (p.Lys603Arg)
c.161A>G
c.497A>G (p.Lys166Arg)
c.*1130A>G (n.*1130A>G)
c.230+6043A>G
c.1838A>G (p.Lys613Arg)
c.1733A>G (p.Lys578Arg)
c.1724A>G (p.Lys575Arg)
c.1685A>G (p.Lys562Arg)
c.1631A>G (p.Lys544Arg)
c.1535A>G (p.Lys512Arg)
c.1505A>G (p.Lys502Arg)
c.1430A>G (p.Lys477Arg)
c.1328A>G (p.Lys443Arg)
c.959A>G (p.Lys320Arg)
5g.112835015A>TCA16025279APCc.1473A>T (n.1473A>T)
c.1862A>T (p.Lys621Ile)
c.*1814A>T (n.*1814A>T)
c.1754A>T (p.Lys585Ile)
c.1808A>T (p.Lys603Ile)
c.161A>T
c.497A>T (p.Lys166Ile)
c.*1130A>T (n.*1130A>T)
c.230+6043A>T
c.1838A>T (p.Lys613Ile)
c.1733A>T (p.Lys578Ile)
c.1724A>T (p.Lys575Ile)
c.1685A>T (p.Lys562Ile)
c.1631A>T (p.Lys544Ile)
c.1535A>T (p.Lys512Ile)
c.1505A>T (p.Lys502Ile)
c.1430A>T (p.Lys477Ile)
c.1328A>T (p.Lys443Ile)
c.959A>T (p.Lys320Ile)
dbSNP
5g.112835016_112835023dupCA2499217459APCc.1474_1481dup (n.1474_1481dup)
c.1863_1870dup (p.Ile624LysfsTer7)
c.*1815_*1822dup (n.*1815_*1822dup)
c.1755_1762dup (p.Ile588LysfsTer7)
c.1809_1816dup (p.Ile606LysfsTer7)
c.162_169dup
c.498_505dup (p.Ile169LysfsTer7)
c.*1131_*1138dup (n.*1131_*1138dup)
c.230+6044_230+6051dup
c.1839_1846dup (p.Ile616LysfsTer7)
c.1734_1741dup (p.Ile581LysfsTer7)
c.1725_1732dup (p.Ile578LysfsTer7)
c.1686_1693dup (p.Ile565LysfsTer7)
c.1632_1639dup (p.Ile547LysfsTer7)
c.1536_1543dup (p.Ile515LysfsTer7)
c.1506_1513dup (p.Ile505LysfsTer7)
c.1431_1438dup (p.Ile480LysfsTer7)
c.1329_1336dup (p.Ile446LysfsTer7)
c.960_967dup (p.Ile323LysfsTer7)
ClinVar dbSNP
5g.112835016A>CCA16025280APCc.1474A>C (n.1474A>C)
c.1863A>C (p.Lys621Asn)
c.*1815A>C (n.*1815A>C)
c.1755A>C (p.Lys585Asn)
c.1809A>C (p.Lys603Asn)
c.162A>C
c.498A>C (p.Lys166Asn)
c.*1131A>C (n.*1131A>C)
c.230+6044A>C
c.1839A>C (p.Lys613Asn)
c.1734A>C (p.Lys578Asn)
c.1725A>C (p.Lys575Asn)
c.1686A>C (p.Lys562Asn)
c.1632A>C (p.Lys544Asn)
c.1536A>C (p.Lys512Asn)
c.1506A>C (p.Lys502Asn)
c.1431A>C (p.Lys477Asn)
c.1329A>C (p.Lys443Asn)
c.960A>C (p.Lys320Asn)
5g.112835016A>GCA445758849APCc.1474A>G (n.1474A>G)
c.1863A>G (p.Lys621=)
c.*1815A>G (n.*1815A>G)
c.1755A>G (p.Lys585=)
c.1809A>G (p.Lys603=)
c.162A>G
c.498A>G (p.Lys166=)
c.*1131A>G (n.*1131A>G)
c.230+6044A>G
c.1839A>G (p.Lys613=)
c.1734A>G (p.Lys578=)
c.1725A>G (p.Lys575=)
c.1686A>G (p.Lys562=)
c.1632A>G (p.Lys544=)
c.1536A>G (p.Lys512=)
c.1506A>G (p.Lys502=)
c.1431A>G (p.Lys477=)
c.1329A>G (p.Lys443=)
c.960A>G (p.Lys320=)
5g.112835016A>TCA16025281APCc.1474A>T (n.1474A>T)
c.1863A>T (p.Lys621Asn)
c.*1815A>T (n.*1815A>T)
c.1755A>T (p.Lys585Asn)
c.1809A>T (p.Lys603Asn)
c.162A>T
c.498A>T (p.Lys166Asn)
c.*1131A>T (n.*1131A>T)
c.230+6044A>T
c.1839A>T (p.Lys613Asn)
c.1734A>T (p.Lys578Asn)
c.1725A>T (p.Lys575Asn)
c.1686A>T (p.Lys562Asn)
c.1632A>T (p.Lys544Asn)
c.1536A>T (p.Lys512Asn)
c.1506A>T (p.Lys502Asn)
c.1431A>T (p.Lys477Asn)
c.1329A>T (p.Lys443Asn)
c.960A>T (p.Lys320Asn)
dbSNP
5g.112835017G>ACA16025282APCc.1475G>A (n.1475G>A)
c.1864G>A (p.Ala622Thr)
c.*1816G>A (n.*1816G>A)
c.1756G>A (p.Ala586Thr)
c.1810G>A (p.Ala604Thr)
c.163G>A
c.499G>A (p.Ala167Thr)
c.*1132G>A (n.*1132G>A)
c.230+6045G>A
c.1840G>A (p.Ala614Thr)
c.1735G>A (p.Ala579Thr)
c.1726G>A (p.Ala576Thr)
c.1687G>A (p.Ala563Thr)
c.1633G>A (p.Ala545Thr)
c.1537G>A (p.Ala513Thr)
c.1507G>A (p.Ala503Thr)
c.1432G>A (p.Ala478Thr)
c.1330G>A (p.Ala444Thr)
c.961G>A (p.Ala321Thr)
ClinVar dbSNP
5g.112835017G>CCA16025283APCc.1475G>C (n.1475G>C)
c.1864G>C (p.Ala622Pro)
c.*1816G>C (n.*1816G>C)
c.1756G>C (p.Ala586Pro)
c.1810G>C (p.Ala604Pro)
c.163G>C
c.499G>C (p.Ala167Pro)
c.*1132G>C (n.*1132G>C)
c.230+6045G>C
c.1840G>C (p.Ala614Pro)
c.1735G>C (p.Ala579Pro)
c.1726G>C (p.Ala576Pro)
c.1687G>C (p.Ala563Pro)
c.1633G>C (p.Ala545Pro)
c.1537G>C (p.Ala513Pro)
c.1507G>C (p.Ala503Pro)
c.1432G>C (p.Ala478Pro)
c.1330G>C (p.Ala444Pro)
c.961G>C (p.Ala321Pro)
dbSNP
5g.112835017G=CA1573470659APCc.1475G= (n.1475G=)
c.1864G= (p.Ala622=)
c.*1816G= (n.*1816G=)
c.1756G= (p.Ala586=)
c.1810G= (p.Ala604=)
c.163G=
c.499G= (p.Ala167=)
c.*1132G= (n.*1132G=)
c.230+6045G=
c.1840G= (p.Ala614=)
c.1735G= (p.Ala579=)
c.1726G= (p.Ala576=)
c.1687G= (p.Ala563=)
c.1633G= (p.Ala545=)
c.1537G= (p.Ala513=)
c.1507G= (p.Ala503=)
c.1432G= (p.Ala478=)
c.1330G= (p.Ala444=)
c.961G= (p.Ala321=)
5g.112835017G>TCA16025284APCc.1475G>T (n.1475G>T)
c.1864G>T (p.Ala622Ser)
c.*1816G>T (n.*1816G>T)
c.1756G>T (p.Ala586Ser)
c.1810G>T (p.Ala604Ser)
c.163G>T
c.499G>T (p.Ala167Ser)
c.*1132G>T (n.*1132G>T)
c.230+6045G>T
c.1840G>T (p.Ala614Ser)
c.1735G>T (p.Ala579Ser)
c.1726G>T (p.Ala576Ser)
c.1687G>T (p.Ala563Ser)
c.1633G>T (p.Ala545Ser)
c.1537G>T (p.Ala513Ser)
c.1507G>T (p.Ala503Ser)
c.1432G>T (p.Ala478Ser)
c.1330G>T (p.Ala444Ser)
c.961G>T (p.Ala321Ser)
dbSNP
5g.112835018C>ACA16025285APCc.1476C>A (n.1476C>A)
c.1865C>A (p.Ala622Asp)
c.*1817C>A (n.*1817C>A)
c.1757C>A (p.Ala586Asp)
c.1811C>A (p.Ala604Asp)
c.164C>A
c.500C>A (p.Ala167Asp)
c.*1133C>A (n.*1133C>A)
c.230+6046C>A
c.1841C>A (p.Ala614Asp)
c.1736C>A (p.Ala579Asp)
c.1727C>A (p.Ala576Asp)
c.1688C>A (p.Ala563Asp)
c.1634C>A (p.Ala545Asp)
c.1538C>A (p.Ala513Asp)
c.1508C>A (p.Ala503Asp)
c.1433C>A (p.Ala478Asp)
c.1331C>A (p.Ala444Asp)
c.962C>A (p.Ala321Asp)
dbSNP
5g.112835018C=CA1573470673APCc.1476C= (n.1476C=)
c.1865C= (p.Ala622=)
c.*1817C= (n.*1817C=)
c.1757C= (p.Ala586=)
c.1811C= (p.Ala604=)
c.164C=
c.500C= (p.Ala167=)
c.*1133C= (n.*1133C=)
c.230+6046C=
c.1841C= (p.Ala614=)
c.1736C= (p.Ala579=)
c.1727C= (p.Ala576=)
c.1688C= (p.Ala563=)
c.1634C= (p.Ala545=)
c.1538C= (p.Ala513=)
c.1508C= (p.Ala503=)
c.1433C= (p.Ala478=)
c.1331C= (p.Ala444=)
c.962C= (p.Ala321=)
5g.112835018C>GCA029588APCc.1476C>G (n.1476C>G)
c.1865C>G (p.Ala622Gly)
c.*1817C>G (n.*1817C>G)
c.1757C>G (p.Ala586Gly)
c.1811C>G (p.Ala604Gly)
c.164C>G
c.500C>G (p.Ala167Gly)
c.*1133C>G (n.*1133C>G)
c.230+6046C>G
c.1841C>G (p.Ala614Gly)
c.1736C>G (p.Ala579Gly)
c.1727C>G (p.Ala576Gly)
c.1688C>G (p.Ala563Gly)
c.1634C>G (p.Ala545Gly)
c.1538C>G (p.Ala513Gly)
c.1508C>G (p.Ala503Gly)
c.1433C>G (p.Ala478Gly)
c.1331C>G (p.Ala444Gly)
c.962C>G (p.Ala321Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112835018C>TCA16025286APCc.1476C>T (n.1476C>T)
c.1865C>T (p.Ala622Val)
c.*1817C>T (n.*1817C>T)
c.1757C>T (p.Ala586Val)
c.1811C>T (p.Ala604Val)
c.164C>T
c.500C>T (p.Ala167Val)
c.*1133C>T (n.*1133C>T)
c.230+6046C>T
c.1841C>T (p.Ala614Val)
c.1736C>T (p.Ala579Val)
c.1727C>T (p.Ala576Val)
c.1688C>T (p.Ala563Val)
c.1634C>T (p.Ala545Val)
c.1538C>T (p.Ala513Val)
c.1508C>T (p.Ala503Val)
c.1433C>T (p.Ala478Val)
c.1331C>T (p.Ala444Val)
c.962C>T (p.Ala321Val)
ClinVar dbSNP gnomAD v4
5g.112835018dupCA2582341325APCc.1476dup (n.1476dup)
c.1865dup (p.Asp623Ter)
c.*1817dup (n.*1817dup)
c.1757dup (p.Asp587Ter)
c.1811dup (p.Asp605Ter)
c.164dup
c.500dup (p.Asp168Ter)
c.*1133dup (n.*1133dup)
c.230+6046dup
c.1841dup (p.Asp615Ter)
c.1736dup (p.Asp580Ter)
c.1727dup (p.Asp577Ter)
c.1688dup (p.Asp564Ter)
c.1634dup (p.Asp546Ter)
c.1538dup (p.Asp514Ter)
c.1508dup (p.Asp504Ter)
c.1433dup (p.Asp479Ter)
c.1331dup (p.Asp445Ter)
c.962dup (p.Asp322Ter)
ClinVar
5g.112835019delCA658760565APCc.1477del (n.1477del)
c.1866del (p.Asp623IlefsTer5)
c.*1818del (n.*1818del)
c.1758del (p.Asp587IlefsTer5)
c.1812del (p.Asp605IlefsTer5)
c.165del
c.501del (p.Asp168IlefsTer5)
c.*1134del (n.*1134del)
c.230+6047del
c.1842del (p.Asp615IlefsTer5)
c.1737del (p.Asp580IlefsTer5)
c.1728del (p.Asp577IlefsTer5)
c.1689del (p.Asp564IlefsTer5)
c.1635del (p.Asp546IlefsTer5)
c.1539del (p.Asp514IlefsTer5)
c.1509del (p.Asp504IlefsTer5)
c.1434del (p.Asp479IlefsTer5)
c.1332del (p.Asp445IlefsTer5)
c.963del (p.Asp322IlefsTer5)
5g.112835019T>ACA445758850APCc.1477T>A (n.1477T>A)
c.1866T>A (p.Ala622=)
c.*1818T>A (n.*1818T>A)
c.1758T>A (p.Ala586=)
c.1812T>A (p.Ala604=)
c.165T>A
c.501T>A (p.Ala167=)
c.*1134T>A (n.*1134T>A)
c.230+6047T>A
c.1842T>A (p.Ala614=)
c.1737T>A (p.Ala579=)
c.1728T>A (p.Ala576=)
c.1689T>A (p.Ala563=)
c.1635T>A (p.Ala545=)
c.1539T>A (p.Ala513=)
c.1509T>A (p.Ala503=)
c.1434T>A (p.Ala478=)
c.1332T>A (p.Ala444=)
c.963T>A (p.Ala321=)
dbSNP
5g.112835019T>CCA445758851APCc.1477T>C (n.1477T>C)
c.1866T>C (p.Ala622=)
c.*1818T>C (n.*1818T>C)
c.1758T>C (p.Ala586=)
c.1812T>C (p.Ala604=)
c.165T>C
c.501T>C (p.Ala167=)
c.*1134T>C (n.*1134T>C)
c.230+6047T>C
c.1842T>C (p.Ala614=)
c.1737T>C (p.Ala579=)
c.1728T>C (p.Ala576=)
c.1689T>C (p.Ala563=)
c.1635T>C (p.Ala545=)
c.1539T>C (p.Ala513=)
c.1509T>C (p.Ala503=)
c.1434T>C (p.Ala478=)
c.1332T>C (p.Ala444=)
c.963T>C (p.Ala321=)
ClinVar dbSNP

Number of alleles fetched