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.112835079_112835083delinsCCAGACA1573471150APCc.1537_1541delinsCCAGA (n.1537_1541delinsCCAGA)
c.1926_1930delinsCCAGA (p.Ser642=)
c.*1878_*1882delinsCCAGA (n.*1878_*1882delinsCCAGA)
c.1818_1822delinsCCAGA (p.Ser606=)
c.1872_1876delinsCCAGA (p.Ser624=)
c.225_229delinsCCAGA
c.561_565delinsCCAGA (p.Ser187=)
c.*1194_*1198delinsCCAGA (n.*1194_*1198delinsCCAGA)
c.230+6107_230+6111delinsCCAGA
c.1902_1906delinsCCAGA (p.Ser634=)
c.1797_1801delinsCCAGA (p.Ser599=)
c.1788_1792delinsCCAGA (p.Ser596=)
c.1749_1753delinsCCAGA (p.Ser583=)
c.1695_1699delinsCCAGA (p.Ser565=)
c.1599_1603delinsCCAGA (p.Ser533=)
c.1569_1573delinsCCAGA (p.Ser523=)
c.1494_1498delinsCCAGA (p.Ser498=)
c.1392_1396delinsCCAGA (p.Ser464=)
c.1023_1027delinsCCAGA (p.Ser341=)
5g.112835082_112835085delCA10582291APCc.1540_1543del (n.1540_1543del)
c.1929_1932del (p.Asn645LeufsTer2)
c.*1881_*1884del (n.*1881_*1884del)
c.1821_1824del (p.Asn609LeufsTer2)
c.1875_1878del (p.Asn627LeufsTer2)
c.228_231del
c.564_567del (p.Asn190LeufsTer2)
c.*1197_*1200del (n.*1197_*1200del)
c.230+6110_230+6113del
c.1905_1908del (p.Asn637LeufsTer2)
c.1800_1803del (p.Asn602LeufsTer2)
c.1791_1794del (p.Asn599LeufsTer2)
c.1752_1755del (p.Asn586LeufsTer2)
c.1698_1701del (p.Asn568LeufsTer2)
c.1602_1605del (p.Asn536LeufsTer2)
c.1572_1575del (p.Asn526LeufsTer2)
c.1497_1500del (p.Asn501LeufsTer2)
c.1395_1398del (p.Asn467LeufsTer2)
c.1026_1029del (p.Asn344LeufsTer2)
 ClinVar dbSNP COSMIC COSMIC
5g.112835082G>ACA124982568APCc.1540G>A (n.1540G>A)
c.1929G>A (p.Gln643=)
c.*1881G>A (n.*1881G>A)
c.1821G>A (p.Gln607=)
c.1875G>A (p.Gln625=)
c.228G>A
c.564G>A (p.Gln188=)
c.*1197G>A (n.*1197G>A)
c.230+6110G>A
c.1905G>A (p.Gln635=)
c.1800G>A (p.Gln600=)
c.1791G>A (p.Gln597=)
c.1752G>A (p.Gln584=)
c.1698G>A (p.Gln566=)
c.1602G>A (p.Gln534=)
c.1572G>A (p.Gln524=)
c.1497G>A (p.Gln499=)
c.1395G>A (p.Gln465=)
c.1026G>A (p.Gln342=)
 ClinVar dbSNP gnomAD v4
5g.112835082G>CCA16025420APCc.1540G>C (n.1540G>C)
c.1929G>C (p.Gln643His)
c.*1881G>C (n.*1881G>C)
c.1821G>C (p.Gln607His)
c.1875G>C (p.Gln625His)
c.228G>C
c.564G>C (p.Gln188His)
c.*1197G>C (n.*1197G>C)
c.230+6110G>C
c.1905G>C (p.Gln635His)
c.1800G>C (p.Gln600His)
c.1791G>C (p.Gln597His)
c.1752G>C (p.Gln584His)
c.1698G>C (p.Gln566His)
c.1602G>C (p.Gln534His)
c.1572G>C (p.Gln524His)
c.1497G>C (p.Gln499His)
c.1395G>C (p.Gln465His)
c.1026G>C (p.Gln342His)
 dbSNP
5g.112835082G=CA1573471180APCc.1540G= (n.1540G=)
c.1929G= (p.Gln643=)
c.*1881G= (n.*1881G=)
c.1821G= (p.Gln607=)
c.1875G= (p.Gln625=)
c.228G=
c.564G= (p.Gln188=)
c.*1197G= (n.*1197G=)
c.230+6110G=
c.1905G= (p.Gln635=)
c.1800G= (p.Gln600=)
c.1791G= (p.Gln597=)
c.1752G= (p.Gln584=)
c.1698G= (p.Gln566=)
c.1602G= (p.Gln534=)
c.1572G= (p.Gln524=)
c.1497G= (p.Gln499=)
c.1395G= (p.Gln465=)
c.1026G= (p.Gln342=)
5g.112835082G>TCA16025421APCc.1540G>T (n.1540G>T)
c.1929G>T (p.Gln643His)
c.*1881G>T (n.*1881G>T)
c.1821G>T (p.Gln607His)
c.1875G>T (p.Gln625His)
c.228G>T
c.564G>T (p.Gln188His)
c.*1197G>T (n.*1197G>T)
c.230+6110G>T
c.1905G>T (p.Gln635His)
c.1800G>T (p.Gln600His)
c.1791G>T (p.Gln597His)
c.1752G>T (p.Gln584His)
c.1698G>T (p.Gln566His)
c.1602G>T (p.Gln534His)
c.1572G>T (p.Gln524His)
c.1497G>T (p.Gln499His)
c.1395G>T (p.Gln465His)
c.1026G>T (p.Gln342His)
 dbSNP
5g.112835082_112835086delinsGACAACA1573471186APCc.1540_1544delinsGACAA (n.1540_1544delinsGACAA)
c.1929_1933delinsGACAA (p.Gln643=)
c.*1881_*1885delinsGACAA (n.*1881_*1885delinsGACAA)
c.1821_1825delinsGACAA (p.Gln607=)
c.1875_1879delinsGACAA (p.Gln625=)
c.228_232delinsGACAA
c.564_568delinsGACAA (p.Gln188=)
c.*1197_*1201delinsGACAA (n.*1197_*1201delinsGACAA)
c.230+6110_230+6114delinsGACAA
c.1905_1909delinsGACAA (p.Gln635=)
c.1800_1804delinsGACAA (p.Gln600=)
c.1791_1795delinsGACAA (p.Gln597=)
c.1752_1756delinsGACAA (p.Gln584=)
c.1698_1702delinsGACAA (p.Gln566=)
c.1602_1606delinsGACAA (p.Gln534=)
c.1572_1576delinsGACAA (p.Gln524=)
c.1497_1501delinsGACAA (p.Gln499=)
c.1395_1399delinsGACAA (p.Gln465=)
c.1026_1030delinsGACAA (p.Gln342=)
5g.112835083A=CA1573471202APCc.1541A= (n.1541A=)
c.1930A= (p.Thr644=)
c.*1882A= (n.*1882A=)
c.1822A= (p.Thr608=)
c.1876A= (p.Thr626=)
c.229A=
c.565A= (p.Thr189=)
c.*1198A= (n.*1198A=)
c.230+6111A=
c.1906A= (p.Thr636=)
c.1801A= (p.Thr601=)
c.1792A= (p.Thr598=)
c.1753A= (p.Thr585=)
c.1699A= (p.Thr567=)
c.1603A= (p.Thr535=)
c.1573A= (p.Thr525=)
c.1498A= (p.Thr500=)
c.1396A= (p.Thr466=)
c.1027A= (p.Thr343=)
5g.112835083A>CCA16025422APCc.1541A>C (n.1541A>C)
c.1930A>C (p.Thr644Pro)
c.*1882A>C (n.*1882A>C)
c.1822A>C (p.Thr608Pro)
c.1876A>C (p.Thr626Pro)
c.229A>C
c.565A>C (p.Thr189Pro)
c.*1198A>C (n.*1198A>C)
c.230+6111A>C
c.1906A>C (p.Thr636Pro)
c.1801A>C (p.Thr601Pro)
c.1792A>C (p.Thr598Pro)
c.1753A>C (p.Thr585Pro)
c.1699A>C (p.Thr567Pro)
c.1603A>C (p.Thr535Pro)
c.1573A>C (p.Thr525Pro)
c.1498A>C (p.Thr500Pro)
c.1396A>C (p.Thr466Pro)
c.1027A>C (p.Thr343Pro)
 ClinVar
5g.112835083A>GCA029787APCc.1541A>G (n.1541A>G)
c.1930A>G (p.Thr644Ala)
c.*1882A>G (n.*1882A>G)
c.1822A>G (p.Thr608Ala)
c.1876A>G (p.Thr626Ala)
c.229A>G
c.565A>G (p.Thr189Ala)
c.*1198A>G (n.*1198A>G)
c.230+6111A>G
c.1906A>G (p.Thr636Ala)
c.1801A>G (p.Thr601Ala)
c.1792A>G (p.Thr598Ala)
c.1753A>G (p.Thr585Ala)
c.1699A>G (p.Thr567Ala)
c.1603A>G (p.Thr535Ala)
c.1573A>G (p.Thr525Ala)
c.1498A>G (p.Thr500Ala)
c.1396A>G (p.Thr466Ala)
c.1027A>G (p.Thr343Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112835083A>TCA16025423APCc.1541A>T (n.1541A>T)
c.1930A>T (p.Thr644Ser)
c.*1882A>T (n.*1882A>T)
c.1822A>T (p.Thr608Ser)
c.1876A>T (p.Thr626Ser)
c.229A>T
c.565A>T (p.Thr189Ser)
c.*1198A>T (n.*1198A>T)
c.230+6111A>T
c.1906A>T (p.Thr636Ser)
c.1801A>T (p.Thr601Ser)
c.1792A>T (p.Thr598Ser)
c.1753A>T (p.Thr585Ser)
c.1699A>T (p.Thr567Ser)
c.1603A>T (p.Thr535Ser)
c.1573A>T (p.Thr525Ser)
c.1498A>T (p.Thr500Ser)
c.1396A>T (p.Thr466Ser)
c.1027A>T (p.Thr343Ser)
 dbSNP
5g.112835084_112835085delCA2582341350APCc.1542_1543del (n.1542_1543del)
c.1931_1932del (p.Thr644LysfsTer7)
c.*1883_*1884del (n.*1883_*1884del)
c.1823_1824del (p.Thr608LysfsTer7)
c.1877_1878del (p.Thr626LysfsTer7)
c.230_231del
c.566_567del (p.Thr189LysfsTer7)
c.*1199_*1200del (n.*1199_*1200del)
c.230+6112_230+6113del
c.1907_1908del (p.Thr636LysfsTer7)
c.1802_1803del (p.Thr601LysfsTer7)
c.1793_1794del (p.Thr598LysfsTer7)
c.1754_1755del (p.Thr585LysfsTer7)
c.1700_1701del (p.Thr567LysfsTer7)
c.1604_1605del (p.Thr535LysfsTer7)
c.1574_1575del (p.Thr525LysfsTer7)
c.1499_1500del (p.Thr500LysfsTer7)
c.1397_1398del (p.Thr466LysfsTer7)
c.1028_1029del (p.Thr343LysfsTer7)
 ClinVar
5g.112835086_112835089delCA16611772APCc.1544_1547del (n.1544_1547del)
c.1933_1936del (p.Asn645LeufsTer2)
c.*1885_*1888del (n.*1885_*1888del)
c.1825_1828del (p.Asn609LeufsTer2)
c.1879_1882del (p.Asn627LeufsTer2)
c.232_235del
c.568_571del (p.Asn190LeufsTer2)
c.*1201_*1204del (n.*1201_*1204del)
c.230+6114_230+6117del
c.1909_1912del (p.Asn637LeufsTer2)
c.1804_1807del (p.Asn602LeufsTer2)
c.1795_1798del (p.Asn599LeufsTer2)
c.1756_1759del (p.Asn586LeufsTer2)
c.1702_1705del (p.Asn568LeufsTer2)
c.1606_1609del (p.Asn536LeufsTer2)
c.1576_1579del (p.Asn526LeufsTer2)
c.1501_1504del (p.Asn501LeufsTer2)
c.1399_1402del (p.Asn467LeufsTer2)
c.1030_1033del (p.Asn344LeufsTer2)
 ClinVar dbSNP COSMIC
5g.112835084delCA645562819APCc.1542del (n.1542del)
c.1931del (p.Thr644LysfsTer4)
c.*1883del (n.*1883del)
c.1823del (p.Thr608LysfsTer4)
c.1877del (p.Thr626LysfsTer4)
c.230del
c.566del (p.Thr189LysfsTer4)
c.*1199del (n.*1199del)
c.230+6112del
c.1907del (p.Thr636LysfsTer4)
c.1802del (p.Thr601LysfsTer4)
c.1793del (p.Thr598LysfsTer4)
c.1754del (p.Thr585LysfsTer4)
c.1700del (p.Thr567LysfsTer4)
c.1604del (p.Thr535LysfsTer4)
c.1574del (p.Thr525LysfsTer4)
c.1499del (p.Thr500LysfsTer4)
c.1397del (p.Thr466LysfsTer4)
c.1028del (p.Thr343LysfsTer4)
 COSMIC
5g.112835084C>ACA16025424APCc.1542C>A (n.1542C>A)
c.1931C>A (p.Thr644Lys)
c.*1883C>A (n.*1883C>A)
c.1823C>A (p.Thr608Lys)
c.1877C>A (p.Thr626Lys)
c.230C>A
c.566C>A (p.Thr189Lys)
c.*1199C>A (n.*1199C>A)
c.230+6112C>A
c.1907C>A (p.Thr636Lys)
c.1802C>A (p.Thr601Lys)
c.1793C>A (p.Thr598Lys)
c.1754C>A (p.Thr585Lys)
c.1700C>A (p.Thr567Lys)
c.1604C>A (p.Thr535Lys)
c.1574C>A (p.Thr525Lys)
c.1499C>A (p.Thr500Lys)
c.1397C>A (p.Thr466Lys)
c.1028C>A (p.Thr343Lys)
 dbSNP
5g.112835084C>GCA16025425APCc.1542C>G (n.1542C>G)
c.1931C>G (p.Thr644Arg)
c.*1883C>G (n.*1883C>G)
c.1823C>G (p.Thr608Arg)
c.1877C>G (p.Thr626Arg)
c.230C>G
c.566C>G (p.Thr189Arg)
c.*1199C>G (n.*1199C>G)
c.230+6112C>G
c.1907C>G (p.Thr636Arg)
c.1802C>G (p.Thr601Arg)
c.1793C>G (p.Thr598Arg)
c.1754C>G (p.Thr585Arg)
c.1700C>G (p.Thr567Arg)
c.1604C>G (p.Thr535Arg)
c.1574C>G (p.Thr525Arg)
c.1499C>G (p.Thr500Arg)
c.1397C>G (p.Thr466Arg)
c.1028C>G (p.Thr343Arg)
 dbSNP
5g.112835084C>TCA16025426APCc.1542C>T (n.1542C>T)
c.1931C>T (p.Thr644Ile)
c.*1883C>T (n.*1883C>T)
c.1823C>T (p.Thr608Ile)
c.1877C>T (p.Thr626Ile)
c.230C>T
c.566C>T (p.Thr189Ile)
c.*1199C>T (n.*1199C>T)
c.230+6112C>T
c.1907C>T (p.Thr636Ile)
c.1802C>T (p.Thr601Ile)
c.1793C>T (p.Thr598Ile)
c.1754C>T (p.Thr585Ile)
c.1700C>T (p.Thr567Ile)
c.1604C>T (p.Thr535Ile)
c.1574C>T (p.Thr525Ile)
c.1499C>T (p.Thr500Ile)
c.1397C>T (p.Thr466Ile)
c.1028C>T (p.Thr343Ile)
 ClinVar
5g.112835084_112835085insTTTAGCCATTATTGCA2695205049APCc.1542_1543insTTTAGCCATTATTG (n.1542_1543insTTTAGCCATTATTG)
c.1931_1932insTTTAGCCATTATTG (p.Asn645LeufsTer8)
c.*1883_*1884insTTTAGCCATTATTG (n.*1883_*1884insTTTAGCCATTATTG)
c.1823_1824insTTTAGCCATTATTG (p.Asn609LeufsTer8)
c.1877_1878insTTTAGCCATTATTG (p.Asn627LeufsTer8)
c.230_231insTTTAGCCATTATTG
c.566_567insTTTAGCCATTATTG (p.Asn190LeufsTer8)
c.*1199_*1200insTTTAGCCATTATTG (n.*1199_*1200insTTTAGCCATTATTG)
c.230+6112_230+6113insTTTAGCCATTATTG
c.1907_1908insTTTAGCCATTATTG (p.Asn637LeufsTer8)
c.1802_1803insTTTAGCCATTATTG (p.Asn602LeufsTer8)
c.1793_1794insTTTAGCCATTATTG (p.Asn599LeufsTer8)
c.1754_1755insTTTAGCCATTATTG (p.Asn586LeufsTer8)
c.1700_1701insTTTAGCCATTATTG (p.Asn568LeufsTer8)
c.1604_1605insTTTAGCCATTATTG (p.Asn536LeufsTer8)
c.1574_1575insTTTAGCCATTATTG (p.Asn526LeufsTer8)
c.1499_1500insTTTAGCCATTATTG (p.Asn501LeufsTer8)
c.1397_1398insTTTAGCCATTATTG (p.Asn467LeufsTer8)
c.1028_1029insTTTAGCCATTATTG (p.Asn344LeufsTer8)
5g.112835085A>CCA445758896APCc.1543A>C (n.1543A>C)
c.1932A>C (p.Thr644=)
c.*1884A>C (n.*1884A>C)
c.1824A>C (p.Thr608=)
c.1878A>C (p.Thr626=)
c.231A>C
c.567A>C (p.Thr189=)
c.*1200A>C (n.*1200A>C)
c.230+6113A>C
c.1908A>C (p.Thr636=)
c.1803A>C (p.Thr601=)
c.1794A>C (p.Thr598=)
c.1755A>C (p.Thr585=)
c.1701A>C (p.Thr567=)
c.1605A>C (p.Thr535=)
c.1575A>C (p.Thr525=)
c.1500A>C (p.Thr500=)
c.1398A>C (p.Thr466=)
c.1029A>C (p.Thr343=)
5g.112835085A>GCA445758897APCc.1543A>G (n.1543A>G)
c.1932A>G (p.Thr644=)
c.*1884A>G (n.*1884A>G)
c.1824A>G (p.Thr608=)
c.1878A>G (p.Thr626=)
c.231A>G
c.567A>G (p.Thr189=)
c.*1200A>G (n.*1200A>G)
c.230+6113A>G
c.1908A>G (p.Thr636=)
c.1803A>G (p.Thr601=)
c.1794A>G (p.Thr598=)
c.1755A>G (p.Thr585=)
c.1701A>G (p.Thr567=)
c.1605A>G (p.Thr535=)
c.1575A>G (p.Thr525=)
c.1500A>G (p.Thr500=)
c.1398A>G (p.Thr466=)
c.1029A>G (p.Thr343=)
 ClinVar dbSNP gnomAD v4
5g.112835085A>TCA445758898APCc.1543A>T (n.1543A>T)
c.1932A>T (p.Thr644=)
c.*1884A>T (n.*1884A>T)
c.1824A>T (p.Thr608=)
c.1878A>T (p.Thr626=)
c.231A>T
c.567A>T (p.Thr189=)
c.*1200A>T (n.*1200A>T)
c.230+6113A>T
c.1908A>T (p.Thr636=)
c.1803A>T (p.Thr601=)
c.1794A>T (p.Thr598=)
c.1755A>T (p.Thr585=)
c.1701A>T (p.Thr567=)
c.1605A>T (p.Thr535=)
c.1575A>T (p.Thr525=)
c.1500A>T (p.Thr500=)
c.1398A>T (p.Thr466=)
c.1029A>T (p.Thr343=)
 dbSNP
5g.112835087dupCA658760610APCc.1545dup (n.1545dup)
c.1934dup (p.Asn645LysfsTer7)
c.*1886dup (n.*1886dup)
c.1826dup (p.Asn609LysfsTer7)
c.1880dup (p.Asn627LysfsTer7)
c.233dup
c.569dup (p.Asn190LysfsTer7)
c.*1202dup (n.*1202dup)
c.230+6115dup
c.1910dup (p.Asn637LysfsTer7)
c.1805dup (p.Asn602LysfsTer7)
c.1796dup (p.Asn599LysfsTer7)
c.1757dup (p.Asn586LysfsTer7)
c.1703dup (p.Asn568LysfsTer7)
c.1607dup (p.Asn536LysfsTer7)
c.1577dup (p.Asn526LysfsTer7)
c.1502dup (p.Asn501LysfsTer7)
c.1400dup (p.Asn467LysfsTer7)
c.1031dup (p.Asn344LysfsTer7)
 ClinVar
5g.112835086_112835087delCA2582341354APCc.1544_1545del (n.1544_1545del)
c.1933_1934del (p.Asn645HisfsTer6)
c.*1885_*1886del (n.*1885_*1886del)
c.1825_1826del (p.Asn609HisfsTer6)
c.1879_1880del (p.Asn627HisfsTer6)
c.232_233del
c.568_569del (p.Asn190HisfsTer6)
c.*1201_*1202del (n.*1201_*1202del)
c.230+6114_230+6115del
c.1909_1910del (p.Asn637HisfsTer6)
c.1804_1805del (p.Asn602HisfsTer6)
c.1795_1796del (p.Asn599HisfsTer6)
c.1756_1757del (p.Asn586HisfsTer6)
c.1702_1703del (p.Asn568HisfsTer6)
c.1606_1607del (p.Asn536HisfsTer6)
c.1576_1577del (p.Asn526HisfsTer6)
c.1501_1502del (p.Asn501HisfsTer6)
c.1399_1400del (p.Asn467HisfsTer6)
c.1030_1031del (p.Asn344HisfsTer6)
 ClinVar
5g.112835086A=CA1573471215APCc.1544A= (n.1544A=)
c.1933A= (p.Asn645=)
c.*1885A= (n.*1885A=)
c.1825A= (p.Asn609=)
c.1879A= (p.Asn627=)
c.232A=
c.568A= (p.Asn190=)
c.*1201A= (n.*1201A=)
c.230+6114A=
c.1909A= (p.Asn637=)
c.1804A= (p.Asn602=)
c.1795A= (p.Asn599=)
c.1756A= (p.Asn586=)
c.1702A= (p.Asn568=)
c.1606A= (p.Asn536=)
c.1576A= (p.Asn526=)
c.1501A= (p.Asn501=)
c.1399A= (p.Asn467=)
c.1030A= (p.Asn344=)
5g.112835086A>CCA16025427APCc.1544A>C (n.1544A>C)
c.1933A>C (p.Asn645His)
c.*1885A>C (n.*1885A>C)
c.1825A>C (p.Asn609His)
c.1879A>C (p.Asn627His)
c.232A>C
c.568A>C (p.Asn190His)
c.*1201A>C (n.*1201A>C)
c.230+6114A>C
c.1909A>C (p.Asn637His)
c.1804A>C (p.Asn602His)
c.1795A>C (p.Asn599His)
c.1756A>C (p.Asn586His)
c.1702A>C (p.Asn568His)
c.1606A>C (p.Asn536His)
c.1576A>C (p.Asn526His)
c.1501A>C (p.Asn501His)
c.1399A>C (p.Asn467His)
c.1030A>C (p.Asn344His)
 ClinVar dbSNP
5g.112835086A>GCA029805APCc.1544A>G (n.1544A>G)
c.1933A>G (p.Asn645Asp)
c.*1885A>G (n.*1885A>G)
c.1825A>G (p.Asn609Asp)
c.1879A>G (p.Asn627Asp)
c.232A>G
c.568A>G (p.Asn190Asp)
c.*1201A>G (n.*1201A>G)
c.230+6114A>G
c.1909A>G (p.Asn637Asp)
c.1804A>G (p.Asn602Asp)
c.1795A>G (p.Asn599Asp)
c.1756A>G (p.Asn586Asp)
c.1702A>G (p.Asn568Asp)
c.1606A>G (p.Asn536Asp)
c.1576A>G (p.Asn526Asp)
c.1501A>G (p.Asn501Asp)
c.1399A>G (p.Asn467Asp)
c.1030A>G (p.Asn344Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112835086A>TCA16025428APCc.1544A>T (n.1544A>T)
c.1933A>T (p.Asn645Tyr)
c.*1885A>T (n.*1885A>T)
c.1825A>T (p.Asn609Tyr)
c.1879A>T (p.Asn627Tyr)
c.232A>T
c.568A>T (p.Asn190Tyr)
c.*1201A>T (n.*1201A>T)
c.230+6114A>T
c.1909A>T (p.Asn637Tyr)
c.1804A>T (p.Asn602Tyr)
c.1795A>T (p.Asn599Tyr)
c.1756A>T (p.Asn586Tyr)
c.1702A>T (p.Asn568Tyr)
c.1606A>T (p.Asn536Tyr)
c.1576A>T (p.Asn526Tyr)
c.1501A>T (p.Asn501Tyr)
c.1399A>T (p.Asn467Tyr)
c.1030A>T (p.Asn344Tyr)
5g.112835087A=CA1573471225APCc.1545A= (n.1545A=)
c.1934A= (p.Asn645=)
c.*1886A= (n.*1886A=)
c.1826A= (p.Asn609=)
c.1880A= (p.Asn627=)
c.233A=
c.569A= (p.Asn190=)
c.*1202A= (n.*1202A=)
c.230+6115A=
c.1910A= (p.Asn637=)
c.1805A= (p.Asn602=)
c.1796A= (p.Asn599=)
c.1757A= (p.Asn586=)
c.1703A= (p.Asn568=)
c.1607A= (p.Asn536=)
c.1577A= (p.Asn526=)
c.1502A= (p.Asn501=)
c.1400A= (p.Asn467=)
c.1031A= (p.Asn344=)
5g.112835087A>CCA16025429APCc.1545A>C (n.1545A>C)
c.1934A>C (p.Asn645Thr)
c.*1886A>C (n.*1886A>C)
c.1826A>C (p.Asn609Thr)
c.1880A>C (p.Asn627Thr)
c.233A>C
c.569A>C (p.Asn190Thr)
c.*1202A>C (n.*1202A>C)
c.230+6115A>C
c.1910A>C (p.Asn637Thr)
c.1805A>C (p.Asn602Thr)
c.1796A>C (p.Asn599Thr)
c.1757A>C (p.Asn586Thr)
c.1703A>C (p.Asn568Thr)
c.1607A>C (p.Asn536Thr)
c.1577A>C (p.Asn526Thr)
c.1502A>C (p.Asn501Thr)
c.1400A>C (p.Asn467Thr)
c.1031A>C (p.Asn344Thr)
5g.112835087A>GCA16025430APCc.1545A>G (n.1545A>G)
c.1934A>G (p.Asn645Ser)
c.*1886A>G (n.*1886A>G)
c.1826A>G (p.Asn609Ser)
c.1880A>G (p.Asn627Ser)
c.233A>G
c.569A>G (p.Asn190Ser)
c.*1202A>G (n.*1202A>G)
c.230+6115A>G
c.1910A>G (p.Asn637Ser)
c.1805A>G (p.Asn602Ser)
c.1796A>G (p.Asn599Ser)
c.1757A>G (p.Asn586Ser)
c.1703A>G (p.Asn568Ser)
c.1607A>G (p.Asn536Ser)
c.1577A>G (p.Asn526Ser)
c.1502A>G (p.Asn501Ser)
c.1400A>G (p.Asn467Ser)
c.1031A>G (p.Asn344Ser)
 ClinVar dbSNP
5g.112835087A>TCA16025431APCc.1545A>T (n.1545A>T)
c.1934A>T (p.Asn645Ile)
c.*1886A>T (n.*1886A>T)
c.1826A>T (p.Asn609Ile)
c.1880A>T (p.Asn627Ile)
c.233A>T
c.569A>T (p.Asn190Ile)
c.*1202A>T (n.*1202A>T)
c.230+6115A>T
c.1910A>T (p.Asn637Ile)
c.1805A>T (p.Asn602Ile)
c.1796A>T (p.Asn599Ile)
c.1757A>T (p.Asn586Ile)
c.1703A>T (p.Asn568Ile)
c.1607A>T (p.Asn536Ile)
c.1577A>T (p.Asn526Ile)
c.1502A>T (p.Asn501Ile)
c.1400A>T (p.Asn467Ile)
c.1031A>T (p.Asn344Ile)
 dbSNP
5g.112835088C>ACA16025432APCc.1546C>A (n.1546C>A)
c.1935C>A (p.Asn645Lys)
c.*1887C>A (n.*1887C>A)
c.1827C>A (p.Asn609Lys)
c.1881C>A (p.Asn627Lys)
c.234C>A
c.570C>A (p.Asn190Lys)
c.*1203C>A (n.*1203C>A)
c.230+6116C>A
c.1911C>A (p.Asn637Lys)
c.1806C>A (p.Asn602Lys)
c.1797C>A (p.Asn599Lys)
c.1758C>A (p.Asn586Lys)
c.1704C>A (p.Asn568Lys)
c.1608C>A (p.Asn536Lys)
c.1578C>A (p.Asn526Lys)
c.1503C>A (p.Asn501Lys)
c.1401C>A (p.Asn467Lys)
c.1032C>A (p.Asn344Lys)
 dbSNP
5g.112835088C>GCA16025433APCc.1546C>G (n.1546C>G)
c.1935C>G (p.Asn645Lys)
c.*1887C>G (n.*1887C>G)
c.1827C>G (p.Asn609Lys)
c.1881C>G (p.Asn627Lys)
c.234C>G
c.570C>G (p.Asn190Lys)
c.*1203C>G (n.*1203C>G)
c.230+6116C>G
c.1911C>G (p.Asn637Lys)
c.1806C>G (p.Asn602Lys)
c.1797C>G (p.Asn599Lys)
c.1758C>G (p.Asn586Lys)
c.1704C>G (p.Asn568Lys)
c.1608C>G (p.Asn536Lys)
c.1578C>G (p.Asn526Lys)
c.1503C>G (p.Asn501Lys)
c.1401C>G (p.Asn467Lys)
c.1032C>G (p.Asn344Lys)
 dbSNP
5g.112835088C>TCA445758899APCc.1546C>T (n.1546C>T)
c.1935C>T (p.Asn645=)
c.*1887C>T (n.*1887C>T)
c.1827C>T (p.Asn609=)
c.1881C>T (p.Asn627=)
c.234C>T
c.570C>T (p.Asn190=)
c.*1203C>T (n.*1203C>T)
c.230+6116C>T
c.1911C>T (p.Asn637=)
c.1806C>T (p.Asn602=)
c.1797C>T (p.Asn599=)
c.1758C>T (p.Asn586=)
c.1704C>T (p.Asn568=)
c.1608C>T (p.Asn536=)
c.1578C>T (p.Asn526=)
c.1503C>T (p.Asn501=)
c.1401C>T (p.Asn467=)
c.1032C>T (p.Asn344=)
 ClinVar dbSNP
5g.112835089A>CCA16025434APCc.1547A>C (n.1547A>C)
c.1936A>C (p.Thr646Pro)
c.*1888A>C (n.*1888A>C)
c.1828A>C (p.Thr610Pro)
c.1882A>C (p.Thr628Pro)
c.235A>C
c.571A>C (p.Thr191Pro)
c.*1204A>C (n.*1204A>C)
c.230+6117A>C
c.1912A>C (p.Thr638Pro)
c.1807A>C (p.Thr603Pro)
c.1798A>C (p.Thr600Pro)
c.1759A>C (p.Thr587Pro)
c.1705A>C (p.Thr569Pro)
c.1609A>C (p.Thr537Pro)
c.1579A>C (p.Thr527Pro)
c.1504A>C (p.Thr502Pro)
c.1402A>C (p.Thr468Pro)
c.1033A>C (p.Thr345Pro)
5g.112835089A>GCA16025435APCc.1547A>G (n.1547A>G)
c.1936A>G (p.Thr646Ala)
c.*1888A>G (n.*1888A>G)
c.1828A>G (p.Thr610Ala)
c.1882A>G (p.Thr628Ala)
c.235A>G
c.571A>G (p.Thr191Ala)
c.*1204A>G (n.*1204A>G)
c.230+6117A>G
c.1912A>G (p.Thr638Ala)
c.1807A>G (p.Thr603Ala)
c.1798A>G (p.Thr600Ala)
c.1759A>G (p.Thr587Ala)
c.1705A>G (p.Thr569Ala)
c.1609A>G (p.Thr537Ala)
c.1579A>G (p.Thr527Ala)
c.1504A>G (p.Thr502Ala)
c.1402A>G (p.Thr468Ala)
c.1033A>G (p.Thr345Ala)
5g.112835089A>TCA16025436APCc.1547A>T (n.1547A>T)
c.1936A>T (p.Thr646Ser)
c.*1888A>T (n.*1888A>T)
c.1828A>T (p.Thr610Ser)
c.1882A>T (p.Thr628Ser)
c.235A>T
c.571A>T (p.Thr191Ser)
c.*1204A>T (n.*1204A>T)
c.230+6117A>T
c.1912A>T (p.Thr638Ser)
c.1807A>T (p.Thr603Ser)
c.1798A>T (p.Thr600Ser)
c.1759A>T (p.Thr587Ser)
c.1705A>T (p.Thr569Ser)
c.1609A>T (p.Thr537Ser)
c.1579A>T (p.Thr527Ser)
c.1504A>T (p.Thr502Ser)
c.1402A>T (p.Thr468Ser)
c.1033A>T (p.Thr345Ser)
 dbSNP
5g.112835090C>ACA16025437APCc.1548C>A (n.1548C>A)
c.1937C>A (p.Thr646Asn)
c.*1889C>A (n.*1889C>A)
c.1829C>A (p.Thr610Asn)
c.1883C>A (p.Thr628Asn)
c.236C>A
c.572C>A (p.Thr191Asn)
c.*1205C>A (n.*1205C>A)
c.230+6118C>A
c.1913C>A (p.Thr638Asn)
c.1808C>A (p.Thr603Asn)
c.1799C>A (p.Thr600Asn)
c.1760C>A (p.Thr587Asn)
c.1706C>A (p.Thr569Asn)
c.1610C>A (p.Thr537Asn)
c.1580C>A (p.Thr527Asn)
c.1505C>A (p.Thr502Asn)
c.1403C>A (p.Thr468Asn)
c.1034C>A (p.Thr345Asn)
5g.112835090C=CA1573471235APCc.1548C= (n.1548C=)
c.1937C= (p.Thr646=)
c.*1889C= (n.*1889C=)
c.1829C= (p.Thr610=)
c.1883C= (p.Thr628=)
c.236C=
c.572C= (p.Thr191=)
c.*1205C= (n.*1205C=)
c.230+6118C=
c.1913C= (p.Thr638=)
c.1808C= (p.Thr603=)
c.1799C= (p.Thr600=)
c.1760C= (p.Thr587=)
c.1706C= (p.Thr569=)
c.1610C= (p.Thr537=)
c.1580C= (p.Thr527=)
c.1505C= (p.Thr502=)
c.1403C= (p.Thr468=)
c.1034C= (p.Thr345=)
5g.112835090C>GCA16025438APCc.1548C>G (n.1548C>G)
c.1937C>G (p.Thr646Ser)
c.*1889C>G (n.*1889C>G)
c.1829C>G (p.Thr610Ser)
c.1883C>G (p.Thr628Ser)
c.236C>G
c.572C>G (p.Thr191Ser)
c.*1205C>G (n.*1205C>G)
c.230+6118C>G
c.1913C>G (p.Thr638Ser)
c.1808C>G (p.Thr603Ser)
c.1799C>G (p.Thr600Ser)
c.1760C>G (p.Thr587Ser)
c.1706C>G (p.Thr569Ser)
c.1610C>G (p.Thr537Ser)
c.1580C>G (p.Thr527Ser)
c.1505C>G (p.Thr502Ser)
c.1403C>G (p.Thr468Ser)
c.1034C>G (p.Thr345Ser)
 ClinVar
5g.112835090C>TCA029849APCc.1548C>T (n.1548C>T)
c.1937C>T (p.Thr646Ile)
c.*1889C>T (n.*1889C>T)
c.1829C>T (p.Thr610Ile)
c.1883C>T (p.Thr628Ile)
c.236C>T
c.572C>T (p.Thr191Ile)
c.*1205C>T (n.*1205C>T)
c.230+6118C>T
c.1913C>T (p.Thr638Ile)
c.1808C>T (p.Thr603Ile)
c.1799C>T (p.Thr600Ile)
c.1760C>T (p.Thr587Ile)
c.1706C>T (p.Thr569Ile)
c.1610C>T (p.Thr537Ile)
c.1580C>T (p.Thr527Ile)
c.1505C>T (p.Thr502Ile)
c.1403C>T (p.Thr468Ile)
c.1034C>T (p.Thr345Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112835090_112835091delinsCTCA1573471239APCc.1548_1549delinsCT (n.1548_1549delinsCT)
c.1937_1938delinsCT (p.Thr646=)
c.*1889_*1890delinsCT (n.*1889_*1890delinsCT)
c.1829_1830delinsCT (p.Thr610=)
c.1883_1884delinsCT (p.Thr628=)
c.236_237delinsCT
c.572_573delinsCT (p.Thr191=)
c.*1205_*1206delinsCT (n.*1205_*1206delinsCT)
c.230+6118_230+6119delinsCT
c.1913_1914delinsCT (p.Thr638=)
c.1808_1809delinsCT (p.Thr603=)
c.1799_1800delinsCT (p.Thr600=)
c.1760_1761delinsCT (p.Thr587=)
c.1706_1707delinsCT (p.Thr569=)
c.1610_1611delinsCT (p.Thr537=)
c.1580_1581delinsCT (p.Thr527=)
c.1505_1506delinsCT (p.Thr502=)
c.1403_1404delinsCT (p.Thr468=)
c.1034_1035delinsCT (p.Thr345=)
5g.112835091T>ACA445758900APCc.1549T>A (n.1549T>A)
c.1938T>A (p.Thr646=)
c.*1890T>A (n.*1890T>A)
c.1830T>A (p.Thr610=)
c.1884T>A (p.Thr628=)
c.237T>A
c.573T>A (p.Thr191=)
c.*1206T>A (n.*1206T>A)
c.230+6119T>A
c.1914T>A (p.Thr638=)
c.1809T>A (p.Thr603=)
c.1800T>A (p.Thr600=)
c.1761T>A (p.Thr587=)
c.1707T>A (p.Thr569=)
c.1611T>A (p.Thr537=)
c.1581T>A (p.Thr527=)
c.1506T>A (p.Thr502=)
c.1404T>A (p.Thr468=)
c.1035T>A (p.Thr345=)
5g.112835091T>CCA445758901APCc.1549T>C (n.1549T>C)
c.1938T>C (p.Thr646=)
c.*1890T>C (n.*1890T>C)
c.1830T>C (p.Thr610=)
c.1884T>C (p.Thr628=)
c.237T>C
c.573T>C (p.Thr191=)
c.*1206T>C (n.*1206T>C)
c.230+6119T>C
c.1914T>C (p.Thr638=)
c.1809T>C (p.Thr603=)
c.1800T>C (p.Thr600=)
c.1761T>C (p.Thr587=)
c.1707T>C (p.Thr569=)
c.1611T>C (p.Thr537=)
c.1581T>C (p.Thr527=)
c.1506T>C (p.Thr502=)
c.1404T>C (p.Thr468=)
c.1035T>C (p.Thr345=)
5g.112835091T>GCA445758902APCc.1549T>G (n.1549T>G)
c.1938T>G (p.Thr646=)
c.*1890T>G (n.*1890T>G)
c.1830T>G (p.Thr610=)
c.1884T>G (p.Thr628=)
c.237T>G
c.573T>G (p.Thr191=)
c.*1206T>G (n.*1206T>G)
c.230+6119T>G
c.1914T>G (p.Thr638=)
c.1809T>G (p.Thr603=)
c.1800T>G (p.Thr600=)
c.1761T>G (p.Thr587=)
c.1707T>G (p.Thr569=)
c.1611T>G (p.Thr537=)
c.1581T>G (p.Thr527=)
c.1506T>G (p.Thr502=)
c.1404T>G (p.Thr468=)
c.1035T>G (p.Thr345=)
5g.112835093dupCA336012APCc.1551dup (n.1551dup)
c.1940dup (p.Leu647PhefsTer5)
c.*1892dup (n.*1892dup)
c.1832dup (p.Leu611PhefsTer5)
c.1886dup (p.Leu629PhefsTer5)
c.239dup
c.575dup (p.Leu192PhefsTer5)
c.*1208dup (n.*1208dup)
c.230+6121dup
c.1916dup (p.Leu639PhefsTer5)
c.1811dup (p.Leu604PhefsTer5)
c.1802dup (p.Leu601PhefsTer5)
c.1763dup (p.Leu588PhefsTer5)
c.1709dup (p.Leu570PhefsTer5)
c.1613dup (p.Leu538PhefsTer5)
c.1583dup (p.Leu528PhefsTer5)
c.1508dup (p.Leu503PhefsTer5)
c.1406dup (p.Leu469PhefsTer5)
c.1037dup (p.Leu346PhefsTer5)
 ClinVar dbSNP
5g.112835092_112835093dupCA658760612APCc.1550_1551dup (n.1550_1551dup)
c.1939_1940dup (p.Leu647PhefsTer2)
c.*1891_*1892dup (n.*1891_*1892dup)
c.1831_1832dup (p.Leu611PhefsTer2)
c.1885_1886dup (p.Leu629PhefsTer2)
c.238_239dup
c.574_575dup (p.Leu192PhefsTer2)
c.*1207_*1208dup (n.*1207_*1208dup)
c.230+6120_230+6121dup
c.1915_1916dup (p.Leu639PhefsTer2)
c.1810_1811dup (p.Leu604PhefsTer2)
c.1801_1802dup (p.Leu601PhefsTer2)
c.1762_1763dup (p.Leu588PhefsTer2)
c.1708_1709dup (p.Leu570PhefsTer2)
c.1612_1613dup (p.Leu538PhefsTer2)
c.1582_1583dup (p.Leu528PhefsTer2)
c.1507_1508dup (p.Leu503PhefsTer2)
c.1405_1406dup (p.Leu469PhefsTer2)
c.1036_1037dup (p.Leu346PhefsTer2)
5g.112835093delCA16618076APCc.1551del (n.1551del)
c.1940del (p.Leu647Ter)
c.*1892del (n.*1892del)
c.1832del (p.Leu611Ter)
c.1886del (p.Leu629Ter)
c.239del
c.575del (p.Leu192Ter)
c.*1208del (n.*1208del)
c.230+6121del
c.1916del (p.Leu639Ter)
c.1811del (p.Leu604Ter)
c.1802del (p.Leu601Ter)
c.1763del (p.Leu588Ter)
c.1709del (p.Leu570Ter)
c.1613del (p.Leu538Ter)
c.1583del (p.Leu528Ter)
c.1508del (p.Leu503Ter)
c.1406del (p.Leu469Ter)
c.1037del (p.Leu346Ter)
 ClinVar dbSNP
5g.112835092_112835093delCA658760347APCc.1550_1551del (n.1550_1551del)
c.1939_1940del (p.Leu647SerfsTer4)
c.*1891_*1892del (n.*1891_*1892del)
c.1831_1832del (p.Leu611SerfsTer4)
c.1885_1886del (p.Leu629SerfsTer4)
c.238_239del
c.574_575del (p.Leu192SerfsTer4)
c.*1207_*1208del (n.*1207_*1208del)
c.230+6120_230+6121del
c.1915_1916del (p.Leu639SerfsTer4)
c.1810_1811del (p.Leu604SerfsTer4)
c.1801_1802del (p.Leu601SerfsTer4)
c.1762_1763del (p.Leu588SerfsTer4)
c.1708_1709del (p.Leu570SerfsTer4)
c.1612_1613del (p.Leu538SerfsTer4)
c.1582_1583del (p.Leu528SerfsTer4)
c.1507_1508del (p.Leu503SerfsTer4)
c.1405_1406del (p.Leu469SerfsTer4)
c.1036_1037del (p.Leu346SerfsTer4)
 ClinVar
5g.112835091_112835104dupCA2695205050APCc.1549_1562dup (n.1549_1562dup)
c.1938_1951dup (p.Glu651ValfsTer2)
c.*1890_*1903dup (n.*1890_*1903dup)
c.1830_1843dup (p.Glu615ValfsTer2)
c.1884_1897dup (p.Glu633ValfsTer2)
c.237_250dup
c.573_586dup (p.Glu196ValfsTer2)
c.*1206_*1219dup (n.*1206_*1219dup)
c.230+6119_230+6132dup
c.1914_1927dup (p.Glu643ValfsTer2)
c.1809_1822dup (p.Glu608ValfsTer2)
c.1800_1813dup (p.Glu605ValfsTer2)
c.1761_1774dup (p.Glu592ValfsTer2)
c.1707_1720dup (p.Glu574ValfsTer2)
c.1611_1624dup (p.Glu542ValfsTer2)
c.1581_1594dup (p.Glu532ValfsTer2)
c.1506_1519dup (p.Glu507ValfsTer2)
c.1404_1417dup (p.Glu473ValfsTer2)
c.1035_1048dup (p.Glu350ValfsTer2)
5g.112835092T>ACA16025439APCc.1550T>A (n.1550T>A)
c.1939T>A (p.Leu647Ile)
c.*1891T>A (n.*1891T>A)
c.1831T>A (p.Leu611Ile)
c.1885T>A (p.Leu629Ile)
c.238T>A
c.574T>A (p.Leu192Ile)
c.*1207T>A (n.*1207T>A)
c.230+6120T>A
c.1915T>A (p.Leu639Ile)
c.1810T>A (p.Leu604Ile)
c.1801T>A (p.Leu601Ile)
c.1762T>A (p.Leu588Ile)
c.1708T>A (p.Leu570Ile)
c.1612T>A (p.Leu538Ile)
c.1582T>A (p.Leu528Ile)
c.1507T>A (p.Leu503Ile)
c.1405T>A (p.Leu469Ile)
c.1036T>A (p.Leu346Ile)
 dbSNP
5g.112835092T>CCA445758903APCc.1550T>C (n.1550T>C)
c.1939T>C (p.Leu647=)
c.*1891T>C (n.*1891T>C)
c.1831T>C (p.Leu611=)
c.1885T>C (p.Leu629=)
c.238T>C
c.574T>C (p.Leu192=)
c.*1207T>C (n.*1207T>C)
c.230+6120T>C
c.1915T>C (p.Leu639=)
c.1810T>C (p.Leu604=)
c.1801T>C (p.Leu601=)
c.1762T>C (p.Leu588=)
c.1708T>C (p.Leu570=)
c.1612T>C (p.Leu538=)
c.1582T>C (p.Leu528=)
c.1507T>C (p.Leu503=)
c.1405T>C (p.Leu469=)
c.1036T>C (p.Leu346=)
5g.112835092T>GCA16025440APCc.1550T>G (n.1550T>G)
c.1939T>G (p.Leu647Val)
c.*1891T>G (n.*1891T>G)
c.1831T>G (p.Leu611Val)
c.1885T>G (p.Leu629Val)
c.238T>G
c.574T>G (p.Leu192Val)
c.*1207T>G (n.*1207T>G)
c.230+6120T>G
c.1915T>G (p.Leu639Val)
c.1810T>G (p.Leu604Val)
c.1801T>G (p.Leu601Val)
c.1762T>G (p.Leu588Val)
c.1708T>G (p.Leu570Val)
c.1612T>G (p.Leu538Val)
c.1582T>G (p.Leu528Val)
c.1507T>G (p.Leu503Val)
c.1405T>G (p.Leu469Val)
c.1036T>G (p.Leu346Val)
 ClinVar
5g.112835092T=CA1573471254APCc.1550T= (n.1550T=)
c.1939T= (p.Leu647=)
c.*1891T= (n.*1891T=)
c.1831T= (p.Leu611=)
c.1885T= (p.Leu629=)
c.238T=
c.574T= (p.Leu192=)
c.*1207T= (n.*1207T=)
c.230+6120T=
c.1915T= (p.Leu639=)
c.1810T= (p.Leu604=)
c.1801T= (p.Leu601=)
c.1762T= (p.Leu588=)
c.1708T= (p.Leu570=)
c.1612T= (p.Leu538=)
c.1582T= (p.Leu528=)
c.1507T= (p.Leu503=)
c.1405T= (p.Leu469=)
c.1036T= (p.Leu346=)
5g.112835095_112835101delCA2697546205APCc.1553_1559del (n.1553_1559del)
c.1942_1948del (p.Ala648LeufsTer14)
c.*1894_*1900del (n.*1894_*1900del)
c.1834_1840del (p.Ala612LeufsTer14)
c.1888_1894del (p.Ala630LeufsTer14)
c.241_247del
c.577_583del (p.Ala193LeufsTer14)
c.*1210_*1216del (n.*1210_*1216del)
c.230+6123_230+6129del
c.1918_1924del (p.Ala640LeufsTer14)
c.1813_1819del (p.Ala605LeufsTer14)
c.1804_1810del (p.Ala602LeufsTer14)
c.1765_1771del (p.Ala589LeufsTer14)
c.1711_1717del (p.Ala571LeufsTer14)
c.1615_1621del (p.Ala539LeufsTer14)
c.1585_1591del (p.Ala529LeufsTer14)
c.1510_1516del (p.Ala504LeufsTer14)
c.1408_1414del (p.Ala470LeufsTer14)
c.1039_1045del (p.Ala347LeufsTer14)
 ClinVar
5g.112835092_112835093insACA006264APCc.1550_1551insA (n.1550_1551insA)
c.1939_1940insA (p.Leu647TyrfsTer5)
c.*1891_*1892insA (n.*1891_*1892insA)
c.1831_1832insA (p.Leu611TyrfsTer5)
c.1885_1886insA (p.Leu629TyrfsTer5)
c.238_239insA
c.574_575insA (p.Leu192TyrfsTer5)
c.*1207_*1208insA (n.*1207_*1208insA)
c.230+6120_230+6121insA
c.1915_1916insA (p.Leu639TyrfsTer5)
c.1810_1811insA (p.Leu604TyrfsTer5)
c.1801_1802insA (p.Leu601TyrfsTer5)
c.1762_1763insA (p.Leu588TyrfsTer5)
c.1708_1709insA (p.Leu570TyrfsTer5)
c.1612_1613insA (p.Leu538TyrfsTer5)
c.1582_1583insA (p.Leu528TyrfsTer5)
c.1507_1508insA (p.Leu503TyrfsTer5)
c.1405_1406insA (p.Leu469TyrfsTer5)
c.1036_1037insA (p.Leu346TyrfsTer5)
 ClinVar dbSNP
5g.112835093T>ACA16025441APCc.1551T>A (n.1551T>A)
c.1940T>A (p.Leu647Ter)
c.*1892T>A (n.*1892T>A)
c.1832T>A (p.Leu611Ter)
c.1886T>A (p.Leu629Ter)
c.239T>A
c.575T>A (p.Leu192Ter)
c.*1208T>A (n.*1208T>A)
c.230+6121T>A
c.1916T>A (p.Leu639Ter)
c.1811T>A (p.Leu604Ter)
c.1802T>A (p.Leu601Ter)
c.1763T>A (p.Leu588Ter)
c.1709T>A (p.Leu570Ter)
c.1613T>A (p.Leu538Ter)
c.1583T>A (p.Leu528Ter)
c.1508T>A (p.Leu503Ter)
c.1406T>A (p.Leu469Ter)
c.1037T>A (p.Leu346Ter)
 ClinVar dbSNP COSMIC
5g.112835093T>CCA16025442APCc.1551T>C (n.1551T>C)
c.1940T>C (p.Leu647Ser)
c.*1892T>C (n.*1892T>C)
c.1832T>C (p.Leu611Ser)
c.1886T>C (p.Leu629Ser)
c.239T>C
c.575T>C (p.Leu192Ser)
c.*1208T>C (n.*1208T>C)
c.230+6121T>C
c.1916T>C (p.Leu639Ser)
c.1811T>C (p.Leu604Ser)
c.1802T>C (p.Leu601Ser)
c.1763T>C (p.Leu588Ser)
c.1709T>C (p.Leu570Ser)
c.1613T>C (p.Leu538Ser)
c.1583T>C (p.Leu528Ser)
c.1508T>C (p.Leu503Ser)
c.1406T>C (p.Leu469Ser)
c.1037T>C (p.Leu346Ser)
 ClinVar dbSNP gnomAD v4
5g.112835093T>GCA16025443APCc.1551T>G (n.1551T>G)
c.1940T>G (p.Leu647Ter)
c.*1892T>G (n.*1892T>G)
c.1832T>G (p.Leu611Ter)
c.1886T>G (p.Leu629Ter)
c.239T>G
c.575T>G (p.Leu192Ter)
c.*1208T>G (n.*1208T>G)
c.230+6121T>G
c.1916T>G (p.Leu639Ter)
c.1811T>G (p.Leu604Ter)
c.1802T>G (p.Leu601Ter)
c.1763T>G (p.Leu588Ter)
c.1709T>G (p.Leu570Ter)
c.1613T>G (p.Leu538Ter)
c.1583T>G (p.Leu528Ter)
c.1508T>G (p.Leu503Ter)
c.1406T>G (p.Leu469Ter)
c.1037T>G (p.Leu346Ter)
 ClinVar dbSNP
5g.112835093T=CA1573471263APCc.1551T= (n.1551T=)
c.1940T= (p.Leu647=)
c.*1892T= (n.*1892T=)
c.1832T= (p.Leu611=)
c.1886T= (p.Leu629=)
c.239T=
c.575T= (p.Leu192=)
c.*1208T= (n.*1208T=)
c.230+6121T=
c.1916T= (p.Leu639=)
c.1811T= (p.Leu604=)
c.1802T= (p.Leu601=)
c.1763T= (p.Leu588=)
c.1709T= (p.Leu570=)
c.1613T= (p.Leu538=)
c.1583T= (p.Leu528=)
c.1508T= (p.Leu503=)
c.1406T= (p.Leu469=)
c.1037T= (p.Leu346=)
5g.112835094A>CCA16025444APCc.1552A>C (n.1552A>C)
c.1941A>C (p.Leu647Phe)
c.*1893A>C (n.*1893A>C)
c.1833A>C (p.Leu611Phe)
c.1887A>C (p.Leu629Phe)
c.240A>C
c.576A>C (p.Leu192Phe)
c.*1209A>C (n.*1209A>C)
c.230+6122A>C
c.1917A>C (p.Leu639Phe)
c.1812A>C (p.Leu604Phe)
c.1803A>C (p.Leu601Phe)
c.1764A>C (p.Leu588Phe)
c.1710A>C (p.Leu570Phe)
c.1614A>C (p.Leu538Phe)
c.1584A>C (p.Leu528Phe)
c.1509A>C (p.Leu503Phe)
c.1407A>C (p.Leu469Phe)
c.1038A>C (p.Leu346Phe)
5g.112835094A>GCA445758904APCc.1552A>G (n.1552A>G)
c.1941A>G (p.Leu647=)
c.*1893A>G (n.*1893A>G)
c.1833A>G (p.Leu611=)
c.1887A>G (p.Leu629=)
c.240A>G
c.576A>G (p.Leu192=)
c.*1209A>G (n.*1209A>G)
c.230+6122A>G
c.1917A>G (p.Leu639=)
c.1812A>G (p.Leu604=)
c.1803A>G (p.Leu601=)
c.1764A>G (p.Leu588=)
c.1710A>G (p.Leu570=)
c.1614A>G (p.Leu538=)
c.1584A>G (p.Leu528=)
c.1509A>G (p.Leu503=)
c.1407A>G (p.Leu469=)
c.1038A>G (p.Leu346=)
5g.112835094A>TCA16025445APCc.1552A>T (n.1552A>T)
c.1941A>T (p.Leu647Phe)
c.*1893A>T (n.*1893A>T)
c.1833A>T (p.Leu611Phe)
c.1887A>T (p.Leu629Phe)
c.240A>T
c.576A>T (p.Leu192Phe)
c.*1209A>T (n.*1209A>T)
c.230+6122A>T
c.1917A>T (p.Leu639Phe)
c.1812A>T (p.Leu604Phe)
c.1803A>T (p.Leu601Phe)
c.1764A>T (p.Leu588Phe)
c.1710A>T (p.Leu570Phe)
c.1614A>T (p.Leu538Phe)
c.1584A>T (p.Leu528Phe)
c.1509A>T (p.Leu503Phe)
c.1407A>T (p.Leu469Phe)
c.1038A>T (p.Leu346Phe)
 dbSNP
5g.112835094_112835101delCA2573138914APCc.1552_1559del (n.1552_1559del)
c.1941_1948del (p.Leu647PhefsTer2)
c.*1893_*1900del (n.*1893_*1900del)
c.1833_1840del (p.Leu611PhefsTer2)
c.1887_1894del (p.Leu629PhefsTer2)
c.240_247del
c.576_583del (p.Leu192PhefsTer2)
c.*1209_*1216del (n.*1209_*1216del)
c.230+6122_230+6129del
c.1917_1924del (p.Leu639PhefsTer2)
c.1812_1819del (p.Leu604PhefsTer2)
c.1803_1810del (p.Leu601PhefsTer2)
c.1764_1771del (p.Leu588PhefsTer2)
c.1710_1717del (p.Leu570PhefsTer2)
c.1614_1621del (p.Leu538PhefsTer2)
c.1584_1591del (p.Leu528PhefsTer2)
c.1509_1516del (p.Leu503PhefsTer2)
c.1407_1414del (p.Leu469PhefsTer2)
c.1038_1045del (p.Leu346PhefsTer2)
 ClinVar dbSNP
5g.112835095G>ACA16025446APCc.1553G>A (n.1553G>A)
c.1942G>A (p.Ala648Thr)
c.*1894G>A (n.*1894G>A)
c.1834G>A (p.Ala612Thr)
c.1888G>A (p.Ala630Thr)
c.241G>A
c.577G>A (p.Ala193Thr)
c.*1210G>A (n.*1210G>A)
c.230+6123G>A
c.1918G>A (p.Ala640Thr)
c.1813G>A (p.Ala605Thr)
c.1804G>A (p.Ala602Thr)
c.1765G>A (p.Ala589Thr)
c.1711G>A (p.Ala571Thr)
c.1615G>A (p.Ala539Thr)
c.1585G>A (p.Ala529Thr)
c.1510G>A (p.Ala504Thr)
c.1408G>A (p.Ala470Thr)
c.1039G>A (p.Ala347Thr)
 ClinVar dbSNP COSMIC
5g.112835095G>CCA16025447APCc.1553G>C (n.1553G>C)
c.1942G>C (p.Ala648Pro)
c.*1894G>C (n.*1894G>C)
c.1834G>C (p.Ala612Pro)
c.1888G>C (p.Ala630Pro)
c.241G>C
c.577G>C (p.Ala193Pro)
c.*1210G>C (n.*1210G>C)
c.230+6123G>C
c.1918G>C (p.Ala640Pro)
c.1813G>C (p.Ala605Pro)
c.1804G>C (p.Ala602Pro)
c.1765G>C (p.Ala589Pro)
c.1711G>C (p.Ala571Pro)
c.1615G>C (p.Ala539Pro)
c.1585G>C (p.Ala529Pro)
c.1510G>C (p.Ala504Pro)
c.1408G>C (p.Ala470Pro)
c.1039G>C (p.Ala347Pro)
 ClinVar dbSNP
5g.112835095G=CA1573471277APCc.1553G= (n.1553G=)
c.1942G= (p.Ala648=)
c.*1894G= (n.*1894G=)
c.1834G= (p.Ala612=)
c.1888G= (p.Ala630=)
c.241G=
c.577G= (p.Ala193=)
c.*1210G= (n.*1210G=)
c.230+6123G=
c.1918G= (p.Ala640=)
c.1813G= (p.Ala605=)
c.1804G= (p.Ala602=)
c.1765G= (p.Ala589=)
c.1711G= (p.Ala571=)
c.1615G= (p.Ala539=)
c.1585G= (p.Ala529=)
c.1510G= (p.Ala504=)
c.1408G= (p.Ala470=)
c.1039G= (p.Ala347=)
5g.112835095G>TCA16025448APCc.1553G>T (n.1553G>T)
c.1942G>T (p.Ala648Ser)
c.*1894G>T (n.*1894G>T)
c.1834G>T (p.Ala612Ser)
c.1888G>T (p.Ala630Ser)
c.241G>T
c.577G>T (p.Ala193Ser)
c.*1210G>T (n.*1210G>T)
c.230+6123G>T
c.1918G>T (p.Ala640Ser)
c.1813G>T (p.Ala605Ser)
c.1804G>T (p.Ala602Ser)
c.1765G>T (p.Ala589Ser)
c.1711G>T (p.Ala571Ser)
c.1615G>T (p.Ala539Ser)
c.1585G>T (p.Ala529Ser)
c.1510G>T (p.Ala504Ser)
c.1408G>T (p.Ala470Ser)
c.1039G>T (p.Ala347Ser)
5g.112835096C>ACA16025449APCc.1554C>A (n.1554C>A)
c.1943C>A (p.Ala648Asp)
c.*1895C>A (n.*1895C>A)
c.1835C>A (p.Ala612Asp)
c.1889C>A (p.Ala630Asp)
c.242C>A
c.578C>A (p.Ala193Asp)
c.*1211C>A (n.*1211C>A)
c.230+6124C>A
c.1919C>A (p.Ala640Asp)
c.1814C>A (p.Ala605Asp)
c.1805C>A (p.Ala602Asp)
c.1766C>A (p.Ala589Asp)
c.1712C>A (p.Ala571Asp)
c.1616C>A (p.Ala539Asp)
c.1586C>A (p.Ala529Asp)
c.1511C>A (p.Ala504Asp)
c.1409C>A (p.Ala470Asp)
c.1040C>A (p.Ala347Asp)
 dbSNP
5g.112835096C=CA1573471285APCc.1554C= (n.1554C=)
c.1943C= (p.Ala648=)
c.*1895C= (n.*1895C=)
c.1835C= (p.Ala612=)
c.1889C= (p.Ala630=)
c.242C=
c.578C= (p.Ala193=)
c.*1211C= (n.*1211C=)
c.230+6124C=
c.1919C= (p.Ala640=)
c.1814C= (p.Ala605=)
c.1805C= (p.Ala602=)
c.1766C= (p.Ala589=)
c.1712C= (p.Ala571=)
c.1616C= (p.Ala539=)
c.1586C= (p.Ala529=)
c.1511C= (p.Ala504=)
c.1409C= (p.Ala470=)
c.1040C= (p.Ala347=)
5g.112835096C>GCA16025450APCc.1554C>G (n.1554C>G)
c.1943C>G (p.Ala648Gly)
c.*1895C>G (n.*1895C>G)
c.1835C>G (p.Ala612Gly)
c.1889C>G (p.Ala630Gly)
c.242C>G
c.578C>G (p.Ala193Gly)
c.*1211C>G (n.*1211C>G)
c.230+6124C>G
c.1919C>G (p.Ala640Gly)
c.1814C>G (p.Ala605Gly)
c.1805C>G (p.Ala602Gly)
c.1766C>G (p.Ala589Gly)
c.1712C>G (p.Ala571Gly)
c.1616C>G (p.Ala539Gly)
c.1586C>G (p.Ala529Gly)
c.1511C>G (p.Ala504Gly)
c.1409C>G (p.Ala470Gly)
c.1040C>G (p.Ala347Gly)
 dbSNP
5g.112835096C>TCA16025451APCc.1554C>T (n.1554C>T)
c.1943C>T (p.Ala648Val)
c.*1895C>T (n.*1895C>T)
c.1835C>T (p.Ala612Val)
c.1889C>T (p.Ala630Val)
c.242C>T
c.578C>T (p.Ala193Val)
c.*1211C>T (n.*1211C>T)
c.230+6124C>T
c.1919C>T (p.Ala640Val)
c.1814C>T (p.Ala605Val)
c.1805C>T (p.Ala602Val)
c.1766C>T (p.Ala589Val)
c.1712C>T (p.Ala571Val)
c.1616C>T (p.Ala539Val)
c.1586C>T (p.Ala529Val)
c.1511C>T (p.Ala504Val)
c.1409C>T (p.Ala470Val)
c.1040C>T (p.Ala347Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112835097delCA658760616APCc.1555del (n.1555del)
c.1944del (p.Ile649LeufsTer15)
c.*1896del (n.*1896del)
c.1836del (p.Ile613LeufsTer15)
c.1890del (p.Ile631LeufsTer15)
c.243del
c.579del (p.Ile194LeufsTer15)
c.*1212del (n.*1212del)
c.230+6125del
c.1920del (p.Ile641LeufsTer15)
c.1815del (p.Ile606LeufsTer15)
c.1806del (p.Ile603LeufsTer15)
c.1767del (p.Ile590LeufsTer15)
c.1713del (p.Ile572LeufsTer15)
c.1617del (p.Ile540LeufsTer15)
c.1587del (p.Ile530LeufsTer15)
c.1512del (p.Ile505LeufsTer15)
c.1410del (p.Ile471LeufsTer15)
c.1041del (p.Ile348LeufsTer15)
5g.112835097C>ACA445758905APCc.1555C>A (n.1555C>A)
c.1944C>A (p.Ala648=)
c.*1896C>A (n.*1896C>A)
c.1836C>A (p.Ala612=)
c.1890C>A (p.Ala630=)
c.243C>A
c.579C>A (p.Ala193=)
c.*1212C>A (n.*1212C>A)
c.230+6125C>A
c.1920C>A (p.Ala640=)
c.1815C>A (p.Ala605=)
c.1806C>A (p.Ala602=)
c.1767C>A (p.Ala589=)
c.1713C>A (p.Ala571=)
c.1617C>A (p.Ala539=)
c.1587C>A (p.Ala529=)
c.1512C>A (p.Ala504=)
c.1410C>A (p.Ala470=)
c.1041C>A (p.Ala347=)
 dbSNP
5g.112835097C>GCA445758907APCc.1555C>G (n.1555C>G)
c.1944C>G (p.Ala648=)
c.*1896C>G (n.*1896C>G)
c.1836C>G (p.Ala612=)
c.1890C>G (p.Ala630=)
c.243C>G
c.579C>G (p.Ala193=)
c.*1212C>G (n.*1212C>G)
c.230+6125C>G
c.1920C>G (p.Ala640=)
c.1815C>G (p.Ala605=)
c.1806C>G (p.Ala602=)
c.1767C>G (p.Ala589=)
c.1713C>G (p.Ala571=)
c.1617C>G (p.Ala539=)
c.1587C>G (p.Ala529=)
c.1512C>G (p.Ala504=)
c.1410C>G (p.Ala470=)
c.1041C>G (p.Ala347=)
 ClinVar dbSNP
5g.112835097C>TCA445758906APCc.1555C>T (n.1555C>T)
c.1944C>T (p.Ala648=)
c.*1896C>T (n.*1896C>T)
c.1836C>T (p.Ala612=)
c.1890C>T (p.Ala630=)
c.243C>T
c.579C>T (p.Ala193=)
c.*1212C>T (n.*1212C>T)
c.230+6125C>T
c.1920C>T (p.Ala640=)
c.1815C>T (p.Ala605=)
c.1806C>T (p.Ala602=)
c.1767C>T (p.Ala589=)
c.1713C>T (p.Ala571=)
c.1617C>T (p.Ala539=)
c.1587C>T (p.Ala529=)
c.1512C>T (p.Ala504=)
c.1410C>T (p.Ala470=)
c.1041C>T (p.Ala347=)
 dbSNP
5g.112835097_112835098delinsCACA1573471288APCc.1555_1556delinsCA (n.1555_1556delinsCA)
c.1944_1945delinsCA (p.Ala648=)
c.*1896_*1897delinsCA (n.*1896_*1897delinsCA)
c.1836_1837delinsCA (p.Ala612=)
c.1890_1891delinsCA (p.Ala630=)
c.243_244delinsCA
c.579_580delinsCA (p.Ala193=)
c.*1212_*1213delinsCA (n.*1212_*1213delinsCA)
c.230+6125_230+6126delinsCA
c.1920_1921delinsCA (p.Ala640=)
c.1815_1816delinsCA (p.Ala605=)
c.1806_1807delinsCA (p.Ala602=)
c.1767_1768delinsCA (p.Ala589=)
c.1713_1714delinsCA (p.Ala571=)
c.1617_1618delinsCA (p.Ala539=)
c.1587_1588delinsCA (p.Ala529=)
c.1512_1513delinsCA (p.Ala504=)
c.1410_1411delinsCA (p.Ala470=)
c.1041_1042delinsCA (p.Ala347=)
5g.112835097_112835098insTACA2695205051APCc.1555_1556insTA (n.1555_1556insTA)
c.1944_1945insTA (p.Ile649Ter)
c.*1896_*1897insTA (n.*1896_*1897insTA)
c.1836_1837insTA (p.Ile613Ter)
c.1890_1891insTA (p.Ile631Ter)
c.243_244insTA
c.579_580insTA (p.Ile194Ter)
c.*1212_*1213insTA (n.*1212_*1213insTA)
c.230+6125_230+6126insTA
c.1920_1921insTA (p.Ile641Ter)
c.1815_1816insTA (p.Ile606Ter)
c.1806_1807insTA (p.Ile603Ter)
c.1767_1768insTA (p.Ile590Ter)
c.1713_1714insTA (p.Ile572Ter)
c.1617_1618insTA (p.Ile540Ter)
c.1587_1588insTA (p.Ile530Ter)
c.1512_1513insTA (p.Ile505Ter)
c.1410_1411insTA (p.Ile471Ter)
c.1041_1042insTA (p.Ile348Ter)
5g.112835098delCA1573471290APCc.1556del (n.1556del)
c.1945del (p.Ile649LeufsTer15)
c.*1897del (n.*1897del)
c.1837del (p.Ile613LeufsTer15)
c.1891del (p.Ile631LeufsTer15)
c.244del
c.580del (p.Ile194LeufsTer15)
c.*1213del (n.*1213del)
c.230+6126del
c.1921del (p.Ile641LeufsTer15)
c.1816del (p.Ile606LeufsTer15)
c.1807del (p.Ile603LeufsTer15)
c.1768del (p.Ile590LeufsTer15)
c.1714del (p.Ile572LeufsTer15)
c.1618del (p.Ile540LeufsTer15)
c.1588del (p.Ile530LeufsTer15)
c.1513del (p.Ile505LeufsTer15)
c.1411del (p.Ile471LeufsTer15)
c.1042del (p.Ile348LeufsTer15)
 dbSNP
5g.112835098A=CA1573471301APCc.1556A= (n.1556A=)
c.1945A= (p.Ile649=)
c.*1897A= (n.*1897A=)
c.1837A= (p.Ile613=)
c.1891A= (p.Ile631=)
c.244A=
c.580A= (p.Ile194=)
c.*1213A= (n.*1213A=)
c.230+6126A=
c.1921A= (p.Ile641=)
c.1816A= (p.Ile606=)
c.1807A= (p.Ile603=)
c.1768A= (p.Ile590=)
c.1714A= (p.Ile572=)
c.1618A= (p.Ile540=)
c.1588A= (p.Ile530=)
c.1513A= (p.Ile505=)
c.1411A= (p.Ile471=)
c.1042A= (p.Ile348=)
5g.112835098A>CCA16025452APCc.1556A>C (n.1556A>C)
c.1945A>C (p.Ile649Leu)
c.*1897A>C (n.*1897A>C)
c.1837A>C (p.Ile613Leu)
c.1891A>C (p.Ile631Leu)
c.244A>C
c.580A>C (p.Ile194Leu)
c.*1213A>C (n.*1213A>C)
c.230+6126A>C
c.1921A>C (p.Ile641Leu)
c.1816A>C (p.Ile606Leu)
c.1807A>C (p.Ile603Leu)
c.1768A>C (p.Ile590Leu)
c.1714A>C (p.Ile572Leu)
c.1618A>C (p.Ile540Leu)
c.1588A>C (p.Ile530Leu)
c.1513A>C (p.Ile505Leu)
c.1411A>C (p.Ile471Leu)
c.1042A>C (p.Ile348Leu)
5g.112835098A>GCA16025453APCc.1556A>G (n.1556A>G)
c.1945A>G (p.Ile649Val)
c.*1897A>G (n.*1897A>G)
c.1837A>G (p.Ile613Val)
c.1891A>G (p.Ile631Val)
c.244A>G
c.580A>G (p.Ile194Val)
c.*1213A>G (n.*1213A>G)
c.230+6126A>G
c.1921A>G (p.Ile641Val)
c.1816A>G (p.Ile606Val)
c.1807A>G (p.Ile603Val)
c.1768A>G (p.Ile590Val)
c.1714A>G (p.Ile572Val)
c.1618A>G (p.Ile540Val)
c.1588A>G (p.Ile530Val)
c.1513A>G (p.Ile505Val)
c.1411A>G (p.Ile471Val)
c.1042A>G (p.Ile348Val)
 ClinVar dbSNP gnomAD v2
5g.112835098A>TCA16025454APCc.1556A>T (n.1556A>T)
c.1945A>T (p.Ile649Phe)
c.*1897A>T (n.*1897A>T)
c.1837A>T (p.Ile613Phe)
c.1891A>T (p.Ile631Phe)
c.244A>T
c.580A>T (p.Ile194Phe)
c.*1213A>T (n.*1213A>T)
c.230+6126A>T
c.1921A>T (p.Ile641Phe)
c.1816A>T (p.Ile606Phe)
c.1807A>T (p.Ile603Phe)
c.1768A>T (p.Ile590Phe)
c.1714A>T (p.Ile572Phe)
c.1618A>T (p.Ile540Phe)
c.1588A>T (p.Ile530Phe)
c.1513A>T (p.Ile505Phe)
c.1411A>T (p.Ile471Phe)
c.1042A>T (p.Ile348Phe)
5g.112835098_112835099delinsATCA1573471305APCc.1556_1557delinsAT (n.1556_1557delinsAT)
c.1945_1946delinsAT (p.Ile649=)
c.*1897_*1898delinsAT (n.*1897_*1898delinsAT)
c.1837_1838delinsAT (p.Ile613=)
c.1891_1892delinsAT (p.Ile631=)
c.244_245delinsAT
c.580_581delinsAT (p.Ile194=)
c.*1213_*1214delinsAT (n.*1213_*1214delinsAT)
c.230+6126_230+6127delinsAT
c.1921_1922delinsAT (p.Ile641=)
c.1816_1817delinsAT (p.Ile606=)
c.1807_1808delinsAT (p.Ile603=)
c.1768_1769delinsAT (p.Ile590=)
c.1714_1715delinsAT (p.Ile572=)
c.1618_1619delinsAT (p.Ile540=)
c.1588_1589delinsAT (p.Ile530=)
c.1513_1514delinsAT (p.Ile505=)
c.1411_1412delinsAT (p.Ile471=)
c.1042_1043delinsAT (p.Ile348=)
5g.112835098_112835111delinsATTATTGAAAGTGGCA1573471296APCc.1556_1569delinsATTATTGAAAGTGG (n.1556_1569delinsATTATTGAAAGTGG)
c.1945_1958delinsATTATTGAAAGTGG (p.Ile649=)
c.*1897_*1910delinsATTATTGAAAGTGG (n.*1897_*1910delinsATTATTGAAAGTGG)
c.1837_1850delinsATTATTGAAAGTGG (p.Ile613=)
c.1891_1904delinsATTATTGAAAGTGG (p.Ile631=)
c.244_257delinsATTATTGAAAGTGG
c.580_593delinsATTATTGAAAGTGG (p.Ile194=)
c.*1213_*1226delinsATTATTGAAAGTGG (n.*1213_*1226delinsATTATTGAAAGTGG)
c.230+6126_230+6139delinsATTATTGAAAGTGG
c.1921_1934delinsATTATTGAAAGTGG (p.Ile641=)
c.1816_1829delinsATTATTGAAAGTGG (p.Ile606=)
c.1807_1820delinsATTATTGAAAGTGG (p.Ile603=)
c.1768_1781delinsATTATTGAAAGTGG (p.Ile590=)
c.1714_1727delinsATTATTGAAAGTGG (p.Ile572=)
c.1618_1631delinsATTATTGAAAGTGG (p.Ile540=)
c.1588_1601delinsATTATTGAAAGTGG (p.Ile530=)
c.1513_1526delinsATTATTGAAAGTGG (p.Ile505=)
c.1411_1424delinsATTATTGAAAGTGG (p.Ile471=)
c.1042_1055delinsATTATTGAAAGTGG (p.Ile348=)
5g.112835098_112835190delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTTCA1573471303APCc.1556_1623+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT
c.1945_2012+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT
c.*1897_*1964+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT
c.1837_1904+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT
c.1891_1958+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT
c.244_311+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT
c.580_647+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT
c.*1213_*1280+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT
c.230+6126_230+6218delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT
c.1921_1988+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT
c.1816_1883+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT
c.1807_1874+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT
c.1768_1835+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT
c.1714_1781+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT
c.1618_1685+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT
c.1588_1655+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT
c.1513_1580+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT
c.1411_1478+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT
c.1042_1109+25delinsATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTT
5g.112835099T>ACA16025455APCc.1557T>A (n.1557T>A)
c.1946T>A (p.Ile649Asn)
c.*1898T>A (n.*1898T>A)
c.1838T>A (p.Ile613Asn)
c.1892T>A (p.Ile631Asn)
c.245T>A
c.581T>A (p.Ile194Asn)
c.*1214T>A (n.*1214T>A)
c.230+6127T>A
c.1922T>A (p.Ile641Asn)
c.1817T>A (p.Ile606Asn)
c.1808T>A (p.Ile603Asn)
c.1769T>A (p.Ile590Asn)
c.1715T>A (p.Ile572Asn)
c.1619T>A (p.Ile540Asn)
c.1589T>A (p.Ile530Asn)
c.1514T>A (p.Ile505Asn)
c.1412T>A (p.Ile471Asn)
c.1043T>A (p.Ile348Asn)
5g.112835099T>CCA16025456APCc.1557T>C (n.1557T>C)
c.1946T>C (p.Ile649Thr)
c.*1898T>C (n.*1898T>C)
c.1838T>C (p.Ile613Thr)
c.1892T>C (p.Ile631Thr)
c.245T>C
c.581T>C (p.Ile194Thr)
c.*1214T>C (n.*1214T>C)
c.230+6127T>C
c.1922T>C (p.Ile641Thr)
c.1817T>C (p.Ile606Thr)
c.1808T>C (p.Ile603Thr)
c.1769T>C (p.Ile590Thr)
c.1715T>C (p.Ile572Thr)
c.1619T>C (p.Ile540Thr)
c.1589T>C (p.Ile530Thr)
c.1514T>C (p.Ile505Thr)
c.1412T>C (p.Ile471Thr)
c.1043T>C (p.Ile348Thr)
 ClinVar dbSNP
5g.112835099T>GCA16025457APCc.1557T>G (n.1557T>G)
c.1946T>G (p.Ile649Ser)
c.*1898T>G (n.*1898T>G)
c.1838T>G (p.Ile613Ser)
c.1892T>G (p.Ile631Ser)
c.245T>G
c.581T>G (p.Ile194Ser)
c.*1214T>G (n.*1214T>G)
c.230+6127T>G
c.1922T>G (p.Ile641Ser)
c.1817T>G (p.Ile606Ser)
c.1808T>G (p.Ile603Ser)
c.1769T>G (p.Ile590Ser)
c.1715T>G (p.Ile572Ser)
c.1619T>G (p.Ile540Ser)
c.1589T>G (p.Ile530Ser)
c.1514T>G (p.Ile505Ser)
c.1412T>G (p.Ile471Ser)
c.1043T>G (p.Ile348Ser)
 gnomAD v4
5g.112835099T=CA1573471319APCc.1557T= (n.1557T=)
c.1946T= (p.Ile649=)
c.*1898T= (n.*1898T=)
c.1838T= (p.Ile613=)
c.1892T= (p.Ile631=)
c.245T=
c.581T= (p.Ile194=)
c.*1214T= (n.*1214T=)
c.230+6127T=
c.1922T= (p.Ile641=)
c.1817T= (p.Ile606=)
c.1808T= (p.Ile603=)
c.1769T= (p.Ile590=)
c.1715T= (p.Ile572=)
c.1619T= (p.Ile540=)
c.1589T= (p.Ile530=)
c.1514T= (p.Ile505=)
c.1412T= (p.Ile471=)
c.1043T= (p.Ile348=)
5g.112835100delCA1573471326APCc.1558del (n.1558del)
c.1947del (p.Ile650LeufsTer14)
c.*1899del (n.*1899del)
c.1839del (p.Ile614LeufsTer14)
c.1893del (p.Ile632LeufsTer14)
c.246del
c.582del (p.Ile195LeufsTer14)
c.*1215del (n.*1215del)
c.230+6128del
c.1923del (p.Ile642LeufsTer14)
c.1818del (p.Ile607LeufsTer14)
c.1809del (p.Ile604LeufsTer14)
c.1770del (p.Ile591LeufsTer14)
c.1716del (p.Ile573LeufsTer14)
c.1620del (p.Ile541LeufsTer14)
c.1590del (p.Ile531LeufsTer14)
c.1515del (p.Ile506LeufsTer14)
c.1413del (p.Ile472LeufsTer14)
c.1044del (p.Ile349LeufsTer14)
 dbSNP
5g.112835099_112835111delinsAATCA279732APCc.1557_1569delinsAAT (n.1557_1569delinsAAT)
c.1946_1958delinsAAT (p.Ile649LysfsTer2)
c.*1898_*1910delinsAAT (n.*1898_*1910delinsAAT)
c.1838_1850delinsAAT (p.Ile613LysfsTer2)
c.1892_1904delinsAAT (p.Ile631LysfsTer2)
c.245_257delinsAAT
c.581_593delinsAAT (p.Ile194LysfsTer2)
c.*1214_*1226delinsAAT (n.*1214_*1226delinsAAT)
c.230+6127_230+6139delinsAAT
c.1922_1934delinsAAT (p.Ile641LysfsTer2)
c.1817_1829delinsAAT (p.Ile606LysfsTer2)
c.1808_1820delinsAAT (p.Ile603LysfsTer2)
c.1769_1781delinsAAT (p.Ile590LysfsTer2)
c.1715_1727delinsAAT (p.Ile572LysfsTer2)
c.1619_1631delinsAAT (p.Ile540LysfsTer2)
c.1589_1601delinsAAT (p.Ile530LysfsTer2)
c.1514_1526delinsAAT (p.Ile505LysfsTer2)
c.1412_1424delinsAAT (p.Ile471LysfsTer2)
c.1043_1055delinsAAT (p.Ile348LysfsTer2)
 ClinVar dbSNP
5g.112835102_112835193delCA891842600APCc.1560_1623+28del
c.1949_2012+28del
c.*1901_*1964+28del
c.1841_1904+28del
c.1895_1958+28del
c.248_311+28del
c.584_647+28del
c.*1217_*1280+28del
c.230+6130_230+6221del
c.1925_1988+28del
c.1820_1883+28del
c.1811_1874+28del
c.1772_1835+28del
c.1718_1781+28del
c.1622_1685+28del
c.1592_1655+28del
c.1517_1580+28del
c.1415_1478+28del
c.1046_1109+28del
 ClinVar dbSNP
5g.112835100T>ACA445758908APCc.1558T>A (n.1558T>A)
c.1947T>A (p.Ile649=)
c.*1899T>A (n.*1899T>A)
c.1839T>A (p.Ile613=)
c.1893T>A (p.Ile631=)
c.246T>A
c.582T>A (p.Ile194=)
c.*1215T>A (n.*1215T>A)
c.230+6128T>A
c.1923T>A (p.Ile641=)
c.1818T>A (p.Ile606=)
c.1809T>A (p.Ile603=)
c.1770T>A (p.Ile590=)
c.1716T>A (p.Ile572=)
c.1620T>A (p.Ile540=)
c.1590T>A (p.Ile530=)
c.1515T>A (p.Ile505=)
c.1413T>A (p.Ile471=)
c.1044T>A (p.Ile348=)
5g.112835100T>CCA445758909APCc.1558T>C (n.1558T>C)
c.1947T>C (p.Ile649=)
c.*1899T>C (n.*1899T>C)
c.1839T>C (p.Ile613=)
c.1893T>C (p.Ile631=)
c.246T>C
c.582T>C (p.Ile194=)
c.*1215T>C (n.*1215T>C)
c.230+6128T>C
c.1923T>C (p.Ile641=)
c.1818T>C (p.Ile606=)
c.1809T>C (p.Ile603=)
c.1770T>C (p.Ile590=)
c.1716T>C (p.Ile572=)
c.1620T>C (p.Ile540=)
c.1590T>C (p.Ile530=)
c.1515T>C (p.Ile505=)
c.1413T>C (p.Ile471=)
c.1044T>C (p.Ile348=)
 gnomAD v4
5g.112835100T>GCA16025458APCc.1558T>G (n.1558T>G)
c.1947T>G (p.Ile649Met)
c.*1899T>G (n.*1899T>G)
c.1839T>G (p.Ile613Met)
c.1893T>G (p.Ile631Met)
c.246T>G
c.582T>G (p.Ile194Met)
c.*1215T>G (n.*1215T>G)
c.230+6128T>G
c.1923T>G (p.Ile641Met)
c.1818T>G (p.Ile606Met)
c.1809T>G (p.Ile603Met)
c.1770T>G (p.Ile590Met)
c.1716T>G (p.Ile572Met)
c.1620T>G (p.Ile540Met)
c.1590T>G (p.Ile530Met)
c.1515T>G (p.Ile505Met)
c.1413T>G (p.Ile471Met)
c.1044T>G (p.Ile348Met)
5g.112835101A>CCA16025459APCc.1559A>C (n.1559A>C)
c.1948A>C (p.Ile650Leu)
c.*1900A>C (n.*1900A>C)
c.1840A>C (p.Ile614Leu)
c.1894A>C (p.Ile632Leu)
c.247A>C
c.583A>C (p.Ile195Leu)
c.*1216A>C (n.*1216A>C)
c.230+6129A>C
c.1924A>C (p.Ile642Leu)
c.1819A>C (p.Ile607Leu)
c.1810A>C (p.Ile604Leu)
c.1771A>C (p.Ile591Leu)
c.1717A>C (p.Ile573Leu)
c.1621A>C (p.Ile541Leu)
c.1591A>C (p.Ile531Leu)
c.1516A>C (p.Ile506Leu)
c.1414A>C (p.Ile472Leu)
c.1045A>C (p.Ile349Leu)
5g.112835101A>GCA16025460APCc.1559A>G (n.1559A>G)
c.1948A>G (p.Ile650Val)
c.*1900A>G (n.*1900A>G)
c.1840A>G (p.Ile614Val)
c.1894A>G (p.Ile632Val)
c.247A>G
c.583A>G (p.Ile195Val)
c.*1216A>G (n.*1216A>G)
c.230+6129A>G
c.1924A>G (p.Ile642Val)
c.1819A>G (p.Ile607Val)
c.1810A>G (p.Ile604Val)
c.1771A>G (p.Ile591Val)
c.1717A>G (p.Ile573Val)
c.1621A>G (p.Ile541Val)
c.1591A>G (p.Ile531Val)
c.1516A>G (p.Ile506Val)
c.1414A>G (p.Ile472Val)
c.1045A>G (p.Ile349Val)
 ClinVar
5g.112835101A>TCA16025461APCc.1559A>T (n.1559A>T)
c.1948A>T (p.Ile650Phe)
c.*1900A>T (n.*1900A>T)
c.1840A>T (p.Ile614Phe)
c.1894A>T (p.Ile632Phe)
c.247A>T
c.583A>T (p.Ile195Phe)
c.*1216A>T (n.*1216A>T)
c.230+6129A>T
c.1924A>T (p.Ile642Phe)
c.1819A>T (p.Ile607Phe)
c.1810A>T (p.Ile604Phe)
c.1771A>T (p.Ile591Phe)
c.1717A>T (p.Ile573Phe)
c.1621A>T (p.Ile541Phe)
c.1591A>T (p.Ile531Phe)
c.1516A>T (p.Ile506Phe)
c.1414A>T (p.Ile472Phe)
c.1045A>T (p.Ile349Phe)
5g.112835102T>ACA16025462APCc.1560T>A (n.1560T>A)
c.1949T>A (p.Ile650Asn)
c.*1901T>A (n.*1901T>A)
c.1841T>A (p.Ile614Asn)
c.1895T>A (p.Ile632Asn)
c.248T>A
c.584T>A (p.Ile195Asn)
c.*1217T>A (n.*1217T>A)
c.230+6130T>A
c.1925T>A (p.Ile642Asn)
c.1820T>A (p.Ile607Asn)
c.1811T>A (p.Ile604Asn)
c.1772T>A (p.Ile591Asn)
c.1718T>A (p.Ile573Asn)
c.1622T>A (p.Ile541Asn)
c.1592T>A (p.Ile531Asn)
c.1517T>A (p.Ile506Asn)
c.1415T>A (p.Ile472Asn)
c.1046T>A (p.Ile349Asn)
 dbSNP
5g.112835102T>CCA006270APCc.1560T>C (n.1560T>C)
c.1949T>C (p.Ile650Thr)
c.*1901T>C (n.*1901T>C)
c.1841T>C (p.Ile614Thr)
c.1895T>C (p.Ile632Thr)
c.248T>C
c.584T>C (p.Ile195Thr)
c.*1217T>C (n.*1217T>C)
c.230+6130T>C
c.1925T>C (p.Ile642Thr)
c.1820T>C (p.Ile607Thr)
c.1811T>C (p.Ile604Thr)
c.1772T>C (p.Ile591Thr)
c.1718T>C (p.Ile573Thr)
c.1622T>C (p.Ile541Thr)
c.1592T>C (p.Ile531Thr)
c.1517T>C (p.Ile506Thr)
c.1415T>C (p.Ile472Thr)
c.1046T>C (p.Ile349Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112835102T>GCA16025463APCc.1560T>G (n.1560T>G)
c.1949T>G (p.Ile650Ser)
c.*1901T>G (n.*1901T>G)
c.1841T>G (p.Ile614Ser)
c.1895T>G (p.Ile632Ser)
c.248T>G
c.584T>G (p.Ile195Ser)
c.*1217T>G (n.*1217T>G)
c.230+6130T>G
c.1925T>G (p.Ile642Ser)
c.1820T>G (p.Ile607Ser)
c.1811T>G (p.Ile604Ser)
c.1772T>G (p.Ile591Ser)
c.1718T>G (p.Ile573Ser)
c.1622T>G (p.Ile541Ser)
c.1592T>G (p.Ile531Ser)
c.1517T>G (p.Ile506Ser)
c.1415T>G (p.Ile472Ser)
c.1046T>G (p.Ile349Ser)
 dbSNP
5g.112835102T=CA1573471332APCc.1560T= (n.1560T=)
c.1949T= (p.Ile650=)
c.*1901T= (n.*1901T=)
c.1841T= (p.Ile614=)
c.1895T= (p.Ile632=)
c.248T=
c.584T= (p.Ile195=)
c.*1217T= (n.*1217T=)
c.230+6130T=
c.1925T= (p.Ile642=)
c.1820T= (p.Ile607=)
c.1811T= (p.Ile604=)
c.1772T= (p.Ile591=)
c.1718T= (p.Ile573=)
c.1622T= (p.Ile541=)
c.1592T= (p.Ile531=)
c.1517T= (p.Ile506=)
c.1415T= (p.Ile472=)
c.1046T= (p.Ile349=)
5g.112835103T>ACA445758910APCc.1561T>A (n.1561T>A)
c.1950T>A (p.Ile650=)
c.*1902T>A (n.*1902T>A)
c.1842T>A (p.Ile614=)
c.1896T>A (p.Ile632=)
c.249T>A
c.585T>A (p.Ile195=)
c.*1218T>A (n.*1218T>A)
c.230+6131T>A
c.1926T>A (p.Ile642=)
c.1821T>A (p.Ile607=)
c.1812T>A (p.Ile604=)
c.1773T>A (p.Ile591=)
c.1719T>A (p.Ile573=)
c.1623T>A (p.Ile541=)
c.1593T>A (p.Ile531=)
c.1518T>A (p.Ile506=)
c.1416T>A (p.Ile472=)
c.1047T>A (p.Ile349=)
5g.112835103T>CCA445758911APCc.1561T>C (n.1561T>C)
c.1950T>C (p.Ile650=)
c.*1902T>C (n.*1902T>C)
c.1842T>C (p.Ile614=)
c.1896T>C (p.Ile632=)
c.249T>C
c.585T>C (p.Ile195=)
c.*1218T>C (n.*1218T>C)
c.230+6131T>C
c.1926T>C (p.Ile642=)
c.1821T>C (p.Ile607=)
c.1812T>C (p.Ile604=)
c.1773T>C (p.Ile591=)
c.1719T>C (p.Ile573=)
c.1623T>C (p.Ile541=)
c.1593T>C (p.Ile531=)
c.1518T>C (p.Ile506=)
c.1416T>C (p.Ile472=)
c.1047T>C (p.Ile349=)
5g.112835103T>GCA16025464APCc.1561T>G (n.1561T>G)
c.1950T>G (p.Ile650Met)
c.*1902T>G (n.*1902T>G)
c.1842T>G (p.Ile614Met)
c.1896T>G (p.Ile632Met)
c.249T>G
c.585T>G (p.Ile195Met)
c.*1218T>G (n.*1218T>G)
c.230+6131T>G
c.1926T>G (p.Ile642Met)
c.1821T>G (p.Ile607Met)
c.1812T>G (p.Ile604Met)
c.1773T>G (p.Ile591Met)
c.1719T>G (p.Ile573Met)
c.1623T>G (p.Ile541Met)
c.1593T>G (p.Ile531Met)
c.1518T>G (p.Ile506Met)
c.1416T>G (p.Ile472Met)
c.1047T>G (p.Ile349Met)
5g.112835104G>ACA16025465APCc.1562G>A (n.1562G>A)
c.1951G>A (p.Glu651Lys)
c.*1903G>A (n.*1903G>A)
c.1843G>A (p.Glu615Lys)
c.1897G>A (p.Glu633Lys)
c.250G>A
c.586G>A (p.Glu196Lys)
c.*1219G>A (n.*1219G>A)
c.230+6132G>A
c.1927G>A (p.Glu643Lys)
c.1822G>A (p.Glu608Lys)
c.1813G>A (p.Glu605Lys)
c.1774G>A (p.Glu592Lys)
c.1720G>A (p.Glu574Lys)
c.1624G>A (p.Glu542Lys)
c.1594G>A (p.Glu532Lys)
c.1519G>A (p.Glu507Lys)
c.1417G>A (p.Glu473Lys)
c.1048G>A (p.Glu350Lys)
 dbSNP
5g.112835104G>CCA16025466APCc.1562G>C (n.1562G>C)
c.1951G>C (p.Glu651Gln)
c.*1903G>C (n.*1903G>C)
c.1843G>C (p.Glu615Gln)
c.1897G>C (p.Glu633Gln)
c.250G>C
c.586G>C (p.Glu196Gln)
c.*1219G>C (n.*1219G>C)
c.230+6132G>C
c.1927G>C (p.Glu643Gln)
c.1822G>C (p.Glu608Gln)
c.1813G>C (p.Glu605Gln)
c.1774G>C (p.Glu592Gln)
c.1720G>C (p.Glu574Gln)
c.1624G>C (p.Glu542Gln)
c.1594G>C (p.Glu532Gln)
c.1519G>C (p.Glu507Gln)
c.1417G>C (p.Glu473Gln)
c.1048G>C (p.Glu350Gln)
 dbSNP
5g.112835104G=CA1573471344APCc.1562G= (n.1562G=)
c.1951G= (p.Glu651=)
c.*1903G= (n.*1903G=)
c.1843G= (p.Glu615=)
c.1897G= (p.Glu633=)
c.250G=
c.586G= (p.Glu196=)
c.*1219G= (n.*1219G=)
c.230+6132G=
c.1927G= (p.Glu643=)
c.1822G= (p.Glu608=)
c.1813G= (p.Glu605=)
c.1774G= (p.Glu592=)
c.1720G= (p.Glu574=)
c.1624G= (p.Glu542=)
c.1594G= (p.Glu532=)
c.1519G= (p.Glu507=)
c.1417G= (p.Glu473=)
c.1048G= (p.Glu350=)
5g.112835104G>TCA16025467APCc.1562G>T (n.1562G>T)
c.1951G>T (p.Glu651Ter)
c.*1903G>T (n.*1903G>T)
c.1843G>T (p.Glu615Ter)
c.1897G>T (p.Glu633Ter)
c.250G>T
c.586G>T (p.Glu196Ter)
c.*1219G>T (n.*1219G>T)
c.230+6132G>T
c.1927G>T (p.Glu643Ter)
c.1822G>T (p.Glu608Ter)
c.1813G>T (p.Glu605Ter)
c.1774G>T (p.Glu592Ter)
c.1720G>T (p.Glu574Ter)
c.1624G>T (p.Glu542Ter)
c.1594G>T (p.Glu532Ter)
c.1519G>T (p.Glu507Ter)
c.1417G>T (p.Glu473Ter)
c.1048G>T (p.Glu350Ter)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.112835105A>CCA16025468APCc.1563A>C (n.1563A>C)
c.1952A>C (p.Glu651Ala)
c.*1904A>C (n.*1904A>C)
c.1844A>C (p.Glu615Ala)
c.1898A>C (p.Glu633Ala)
c.251A>C
c.587A>C (p.Glu196Ala)
c.*1220A>C (n.*1220A>C)
c.230+6133A>C
c.1928A>C (p.Glu643Ala)
c.1823A>C (p.Glu608Ala)
c.1814A>C (p.Glu605Ala)
c.1775A>C (p.Glu592Ala)
c.1721A>C (p.Glu574Ala)
c.1625A>C (p.Glu542Ala)
c.1595A>C (p.Glu532Ala)
c.1520A>C (p.Glu507Ala)
c.1418A>C (p.Glu473Ala)
c.1049A>C (p.Glu350Ala)
5g.112835105A>GCA16025469APCc.1563A>G (n.1563A>G)
c.1952A>G (p.Glu651Gly)
c.*1904A>G (n.*1904A>G)
c.1844A>G (p.Glu615Gly)
c.1898A>G (p.Glu633Gly)
c.251A>G
c.587A>G (p.Glu196Gly)
c.*1220A>G (n.*1220A>G)
c.230+6133A>G
c.1928A>G (p.Glu643Gly)
c.1823A>G (p.Glu608Gly)
c.1814A>G (p.Glu605Gly)
c.1775A>G (p.Glu592Gly)
c.1721A>G (p.Glu574Gly)
c.1625A>G (p.Glu542Gly)
c.1595A>G (p.Glu532Gly)
c.1520A>G (p.Glu507Gly)
c.1418A>G (p.Glu473Gly)
c.1049A>G (p.Glu350Gly)
5g.112835105A>TCA16025470APCc.1563A>T (n.1563A>T)
c.1952A>T (p.Glu651Val)
c.*1904A>T (n.*1904A>T)
c.1844A>T (p.Glu615Val)
c.1898A>T (p.Glu633Val)
c.251A>T
c.587A>T (p.Glu196Val)
c.*1220A>T (n.*1220A>T)
c.230+6133A>T
c.1928A>T (p.Glu643Val)
c.1823A>T (p.Glu608Val)
c.1814A>T (p.Glu605Val)
c.1775A>T (p.Glu592Val)
c.1721A>T (p.Glu574Val)
c.1625A>T (p.Glu542Val)
c.1595A>T (p.Glu532Val)
c.1520A>T (p.Glu507Val)
c.1418A>T (p.Glu473Val)
c.1049A>T (p.Glu350Val)
5g.112835107dupCA658760617APCc.1565dup (n.1565dup)
c.1954dup (p.Ser652LysfsTer17)
c.*1906dup (n.*1906dup)
c.1846dup (p.Ser616LysfsTer17)
c.1900dup (p.Ser634LysfsTer17)
c.253dup
c.589dup (p.Ser197LysfsTer17)
c.*1222dup (n.*1222dup)
c.230+6135dup
c.1930dup (p.Ser644LysfsTer17)
c.1825dup (p.Ser609LysfsTer17)
c.1816dup (p.Ser606LysfsTer17)
c.1777dup (p.Ser593LysfsTer17)
c.1723dup (p.Ser575LysfsTer17)
c.1627dup (p.Ser543LysfsTer17)
c.1597dup (p.Ser533LysfsTer17)
c.1522dup (p.Ser508LysfsTer17)
c.1420dup (p.Ser474LysfsTer17)
c.1051dup (p.Ser351LysfsTer17)
 ClinVar
5g.112835106A>CCA16025471APCc.1564A>C (n.1564A>C)
c.1953A>C (p.Glu651Asp)
c.*1905A>C (n.*1905A>C)
c.1845A>C (p.Glu615Asp)
c.1899A>C (p.Glu633Asp)
c.252A>C
c.588A>C (p.Glu196Asp)
c.*1221A>C (n.*1221A>C)
c.230+6134A>C
c.1929A>C (p.Glu643Asp)
c.1824A>C (p.Glu608Asp)
c.1815A>C (p.Glu605Asp)
c.1776A>C (p.Glu592Asp)
c.1722A>C (p.Glu574Asp)
c.1626A>C (p.Glu542Asp)
c.1596A>C (p.Glu532Asp)
c.1521A>C (p.Glu507Asp)
c.1419A>C (p.Glu473Asp)
c.1050A>C (p.Glu350Asp)
5g.112835106A>GCA445758912APCc.1564A>G (n.1564A>G)
c.1953A>G (p.Glu651=)
c.*1905A>G (n.*1905A>G)
c.1845A>G (p.Glu615=)
c.1899A>G (p.Glu633=)
c.252A>G
c.588A>G (p.Glu196=)
c.*1221A>G (n.*1221A>G)
c.230+6134A>G
c.1929A>G (p.Glu643=)
c.1824A>G (p.Glu608=)
c.1815A>G (p.Glu605=)
c.1776A>G (p.Glu592=)
c.1722A>G (p.Glu574=)
c.1626A>G (p.Glu542=)
c.1596A>G (p.Glu532=)
c.1521A>G (p.Glu507=)
c.1419A>G (p.Glu473=)
c.1050A>G (p.Glu350=)
 dbSNP
5g.112835106A>TCA16025472APCc.1564A>T (n.1564A>T)
c.1953A>T (p.Glu651Asp)
c.*1905A>T (n.*1905A>T)
c.1845A>T (p.Glu615Asp)
c.1899A>T (p.Glu633Asp)
c.252A>T
c.588A>T (p.Glu196Asp)
c.*1221A>T (n.*1221A>T)
c.230+6134A>T
c.1929A>T (p.Glu643Asp)
c.1824A>T (p.Glu608Asp)
c.1815A>T (p.Glu605Asp)
c.1776A>T (p.Glu592Asp)
c.1722A>T (p.Glu574Asp)
c.1626A>T (p.Glu542Asp)
c.1596A>T (p.Glu532Asp)
c.1521A>T (p.Glu507Asp)
c.1419A>T (p.Glu473Asp)
c.1050A>T (p.Glu350Asp)
 dbSNP
5g.112835107A>CCA16025473APCc.1565A>C (n.1565A>C)
c.1954A>C (p.Ser652Arg)
c.*1906A>C (n.*1906A>C)
c.1846A>C (p.Ser616Arg)
c.1900A>C (p.Ser634Arg)
c.253A>C
c.589A>C (p.Ser197Arg)
c.*1222A>C (n.*1222A>C)
c.230+6135A>C
c.1930A>C (p.Ser644Arg)
c.1825A>C (p.Ser609Arg)
c.1816A>C (p.Ser606Arg)
c.1777A>C (p.Ser593Arg)
c.1723A>C (p.Ser575Arg)
c.1627A>C (p.Ser543Arg)
c.1597A>C (p.Ser533Arg)
c.1522A>C (p.Ser508Arg)
c.1420A>C (p.Ser474Arg)
c.1051A>C (p.Ser351Arg)
5g.112835107A>GCA16025474APCc.1565A>G (n.1565A>G)
c.1954A>G (p.Ser652Gly)
c.*1906A>G (n.*1906A>G)
c.1846A>G (p.Ser616Gly)
c.1900A>G (p.Ser634Gly)
c.253A>G
c.589A>G (p.Ser197Gly)
c.*1222A>G (n.*1222A>G)
c.230+6135A>G
c.1930A>G (p.Ser644Gly)
c.1825A>G (p.Ser609Gly)
c.1816A>G (p.Ser606Gly)
c.1777A>G (p.Ser593Gly)
c.1723A>G (p.Ser575Gly)
c.1627A>G (p.Ser543Gly)
c.1597A>G (p.Ser533Gly)
c.1522A>G (p.Ser508Gly)
c.1420A>G (p.Ser474Gly)
c.1051A>G (p.Ser351Gly)
5g.112835107A>TCA16025475APCc.1565A>T (n.1565A>T)
c.1954A>T (p.Ser652Cys)
c.*1906A>T (n.*1906A>T)
c.1846A>T (p.Ser616Cys)
c.1900A>T (p.Ser634Cys)
c.253A>T
c.589A>T (p.Ser197Cys)
c.*1222A>T (n.*1222A>T)
c.230+6135A>T
c.1930A>T (p.Ser644Cys)
c.1825A>T (p.Ser609Cys)
c.1816A>T (p.Ser606Cys)
c.1777A>T (p.Ser593Cys)
c.1723A>T (p.Ser575Cys)
c.1627A>T (p.Ser543Cys)
c.1597A>T (p.Ser533Cys)
c.1522A>T (p.Ser508Cys)
c.1420A>T (p.Ser474Cys)
c.1051A>T (p.Ser351Cys)
5g.112835108G>ACA16025476APCc.1566G>A (n.1566G>A)
c.1955G>A (p.Ser652Asn)
c.*1907G>A (n.*1907G>A)
c.1847G>A (p.Ser616Asn)
c.1901G>A (p.Ser634Asn)
c.254G>A
c.590G>A (p.Ser197Asn)
c.*1223G>A (n.*1223G>A)
c.230+6136G>A
c.1931G>A (p.Ser644Asn)
c.1826G>A (p.Ser609Asn)
c.1817G>A (p.Ser606Asn)
c.1778G>A (p.Ser593Asn)
c.1724G>A (p.Ser575Asn)
c.1628G>A (p.Ser543Asn)
c.1598G>A (p.Ser533Asn)
c.1523G>A (p.Ser508Asn)
c.1421G>A (p.Ser474Asn)
c.1052G>A (p.Ser351Asn)
 dbSNP
5g.112835108G>CCA16025477APCc.1566G>C (n.1566G>C)
c.1955G>C (p.Ser652Thr)
c.*1907G>C (n.*1907G>C)
c.1847G>C (p.Ser616Thr)
c.1901G>C (p.Ser634Thr)
c.254G>C
c.590G>C (p.Ser197Thr)
c.*1223G>C (n.*1223G>C)
c.230+6136G>C
c.1931G>C (p.Ser644Thr)
c.1826G>C (p.Ser609Thr)
c.1817G>C (p.Ser606Thr)
c.1778G>C (p.Ser593Thr)
c.1724G>C (p.Ser575Thr)
c.1628G>C (p.Ser543Thr)
c.1598G>C (p.Ser533Thr)
c.1523G>C (p.Ser508Thr)
c.1421G>C (p.Ser474Thr)
c.1052G>C (p.Ser351Thr)
 dbSNP
5g.112835108G>TCA16025478APCc.1566G>T (n.1566G>T)
c.1955G>T (p.Ser652Ile)
c.*1907G>T (n.*1907G>T)
c.1847G>T (p.Ser616Ile)
c.1901G>T (p.Ser634Ile)
c.254G>T
c.590G>T (p.Ser197Ile)
c.*1223G>T (n.*1223G>T)
c.230+6136G>T
c.1931G>T (p.Ser644Ile)
c.1826G>T (p.Ser609Ile)
c.1817G>T (p.Ser606Ile)
c.1778G>T (p.Ser593Ile)
c.1724G>T (p.Ser575Ile)
c.1628G>T (p.Ser543Ile)
c.1598G>T (p.Ser533Ile)
c.1523G>T (p.Ser508Ile)
c.1421G>T (p.Ser474Ile)
c.1052G>T (p.Ser351Ile)
 dbSNP
5g.112835109T>ACA16025479APCc.1567T>A (n.1567T>A)
c.1956T>A (p.Ser652Arg)
c.*1908T>A (n.*1908T>A)
c.1848T>A (p.Ser616Arg)
c.1902T>A (p.Ser634Arg)
c.255T>A
c.591T>A (p.Ser197Arg)
c.*1224T>A (n.*1224T>A)
c.230+6137T>A
c.1932T>A (p.Ser644Arg)
c.1827T>A (p.Ser609Arg)
c.1818T>A (p.Ser606Arg)
c.1779T>A (p.Ser593Arg)
c.1725T>A (p.Ser575Arg)
c.1629T>A (p.Ser543Arg)
c.1599T>A (p.Ser533Arg)
c.1524T>A (p.Ser508Arg)
c.1422T>A (p.Ser474Arg)
c.1053T>A (p.Ser351Arg)
5g.112835109T>CCA445758913APCc.1567T>C (n.1567T>C)
c.1956T>C (p.Ser652=)
c.*1908T>C (n.*1908T>C)
c.1848T>C (p.Ser616=)
c.1902T>C (p.Ser634=)
c.255T>C
c.591T>C (p.Ser197=)
c.*1224T>C (n.*1224T>C)
c.230+6137T>C
c.1932T>C (p.Ser644=)
c.1827T>C (p.Ser609=)
c.1818T>C (p.Ser606=)
c.1779T>C (p.Ser593=)
c.1725T>C (p.Ser575=)
c.1629T>C (p.Ser543=)
c.1599T>C (p.Ser533=)
c.1524T>C (p.Ser508=)
c.1422T>C (p.Ser474=)
c.1053T>C (p.Ser351=)
 ClinVar gnomAD v4
5g.112835109T>GCA10578330APCc.1567T>G (n.1567T>G)
c.1956T>G (p.Ser652Arg)
c.*1908T>G (n.*1908T>G)
c.1848T>G (p.Ser616Arg)
c.1902T>G (p.Ser634Arg)
c.255T>G
c.591T>G (p.Ser197Arg)
c.*1224T>G (n.*1224T>G)
c.230+6137T>G
c.1932T>G (p.Ser644Arg)
c.1827T>G (p.Ser609Arg)
c.1818T>G (p.Ser606Arg)
c.1779T>G (p.Ser593Arg)
c.1725T>G (p.Ser575Arg)
c.1629T>G (p.Ser543Arg)
c.1599T>G (p.Ser533Arg)
c.1524T>G (p.Ser508Arg)
c.1422T>G (p.Ser474Arg)
c.1053T>G (p.Ser351Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112835109T=CA1573471357APCc.1567T= (n.1567T=)
c.1956T= (p.Ser652=)
c.*1908T= (n.*1908T=)
c.1848T= (p.Ser616=)
c.1902T= (p.Ser634=)
c.255T=
c.591T= (p.Ser197=)
c.*1224T= (n.*1224T=)
c.230+6137T=
c.1932T= (p.Ser644=)
c.1827T= (p.Ser609=)
c.1818T= (p.Ser606=)
c.1779T= (p.Ser593=)
c.1725T= (p.Ser575=)
c.1629T= (p.Ser543=)
c.1599T= (p.Ser533=)
c.1524T= (p.Ser508=)
c.1422T= (p.Ser474=)
c.1053T= (p.Ser351=)
5g.112835110G>ACA16025480APCc.1568G>A (n.1568G>A)
c.1957G>A (p.Gly653Arg)
c.*1909G>A (n.*1909G>A)
c.1849G>A (p.Gly617Arg)
c.1903G>A (p.Gly635Arg)
c.256G>A
c.592G>A (p.Gly198Arg)
c.*1225G>A (n.*1225G>A)
c.230+6138G>A
c.1933G>A (p.Gly645Arg)
c.1828G>A (p.Gly610Arg)
c.1819G>A (p.Gly607Arg)
c.1780G>A (p.Gly594Arg)
c.1726G>A (p.Gly576Arg)
c.1630G>A (p.Gly544Arg)
c.1600G>A (p.Gly534Arg)
c.1525G>A (p.Gly509Arg)
c.1423G>A (p.Gly475Arg)
c.1054G>A (p.Gly352Arg)
 ClinVar dbSNP
5g.112835110G>CCA16025481APCc.1568G>C (n.1568G>C)
c.1957G>C (p.Gly653Arg)
c.*1909G>C (n.*1909G>C)
c.1849G>C (p.Gly617Arg)
c.1903G>C (p.Gly635Arg)
c.256G>C
c.592G>C (p.Gly198Arg)
c.*1225G>C (n.*1225G>C)
c.230+6138G>C
c.1933G>C (p.Gly645Arg)
c.1828G>C (p.Gly610Arg)
c.1819G>C (p.Gly607Arg)
c.1780G>C (p.Gly594Arg)
c.1726G>C (p.Gly576Arg)
c.1630G>C (p.Gly544Arg)
c.1600G>C (p.Gly534Arg)
c.1525G>C (p.Gly509Arg)
c.1423G>C (p.Gly475Arg)
c.1054G>C (p.Gly352Arg)
 dbSNP
5g.112835110G=CA1573471368APCc.1568G= (n.1568G=)
c.1957G= (p.Gly653=)
c.*1909G= (n.*1909G=)
c.1849G= (p.Gly617=)
c.1903G= (p.Gly635=)
c.256G=
c.592G= (p.Gly198=)
c.*1225G= (n.*1225G=)
c.230+6138G=
c.1933G= (p.Gly645=)
c.1828G= (p.Gly610=)
c.1819G= (p.Gly607=)
c.1780G= (p.Gly594=)
c.1726G= (p.Gly576=)
c.1630G= (p.Gly544=)
c.1600G= (p.Gly534=)
c.1525G= (p.Gly509=)
c.1423G= (p.Gly475=)
c.1054G= (p.Gly352=)
5g.112835110G>TCA16025482APCc.1568G>T (n.1568G>T)
c.1957G>T (p.Gly653Ter)
c.*1909G>T (n.*1909G>T)
c.1849G>T (p.Gly617Ter)
c.1903G>T (p.Gly635Ter)
c.256G>T
c.592G>T (p.Gly198Ter)
c.*1225G>T (n.*1225G>T)
c.230+6138G>T
c.1933G>T (p.Gly645Ter)
c.1828G>T (p.Gly610Ter)
c.1819G>T (p.Gly607Ter)
c.1780G>T (p.Gly594Ter)
c.1726G>T (p.Gly576Ter)
c.1630G>T (p.Gly544Ter)
c.1600G>T (p.Gly534Ter)
c.1525G>T (p.Gly509Ter)
c.1423G>T (p.Gly475Ter)
c.1054G>T (p.Gly352Ter)
 ClinVar dbSNP
5g.112835111G>ACA16025483APCc.1569G>A (n.1569G>A)
c.1958G>A (p.Gly653Glu)
c.*1910G>A (n.*1910G>A)
c.1850G>A (p.Gly617Glu)
c.1904G>A (p.Gly635Glu)
c.257G>A
c.593G>A (p.Gly198Glu)
c.*1226G>A (n.*1226G>A)
c.230+6139G>A
c.1934G>A (p.Gly645Glu)
c.1829G>A (p.Gly610Glu)
c.1820G>A (p.Gly607Glu)
c.1781G>A (p.Gly594Glu)
c.1727G>A (p.Gly576Glu)
c.1631G>A (p.Gly544Glu)
c.1601G>A (p.Gly534Glu)
c.1526G>A (p.Gly509Glu)
c.1424G>A (p.Gly475Glu)
c.1055G>A (p.Gly352Glu)
 ClinVar dbSNP
5g.112835111G>CCA006287APCc.1569G>C (n.1569G>C)
c.1958G>C (p.Gly653Ala)
c.*1910G>C (n.*1910G>C)
c.1850G>C (p.Gly617Ala)
c.1904G>C (p.Gly635Ala)
c.257G>C
c.593G>C (p.Gly198Ala)
c.*1226G>C (n.*1226G>C)
c.230+6139G>C
c.1934G>C (p.Gly645Ala)
c.1829G>C (p.Gly610Ala)
c.1820G>C (p.Gly607Ala)
c.1781G>C (p.Gly594Ala)
c.1727G>C (p.Gly576Ala)
c.1631G>C (p.Gly544Ala)
c.1601G>C (p.Gly534Ala)
c.1526G>C (p.Gly509Ala)
c.1424G>C (p.Gly475Ala)
c.1055G>C (p.Gly352Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112835111G=CA1573471375APCc.1569G= (n.1569G=)
c.1958G= (p.Gly653=)
c.*1910G= (n.*1910G=)
c.1850G= (p.Gly617=)
c.1904G= (p.Gly635=)
c.257G=
c.593G= (p.Gly198=)
c.*1226G= (n.*1226G=)
c.230+6139G=
c.1934G= (p.Gly645=)
c.1829G= (p.Gly610=)
c.1820G= (p.Gly607=)
c.1781G= (p.Gly594=)
c.1727G= (p.Gly576=)
c.1631G= (p.Gly544=)
c.1601G= (p.Gly534=)
c.1526G= (p.Gly509=)
c.1424G= (p.Gly475=)
c.1055G= (p.Gly352=)
5g.112835111G>TCA16025484APCc.1569G>T (n.1569G>T)
c.1958G>T (p.Gly653Val)
c.*1910G>T (n.*1910G>T)
c.1850G>T (p.Gly617Val)
c.1904G>T (p.Gly635Val)
c.257G>T
c.593G>T (p.Gly198Val)
c.*1226G>T (n.*1226G>T)
c.230+6139G>T
c.1934G>T (p.Gly645Val)
c.1829G>T (p.Gly610Val)
c.1820G>T (p.Gly607Val)
c.1781G>T (p.Gly594Val)
c.1727G>T (p.Gly576Val)
c.1631G>T (p.Gly544Val)
c.1601G>T (p.Gly534Val)
c.1526G>T (p.Gly509Val)
c.1424G>T (p.Gly475Val)
c.1055G>T (p.Gly352Val)
 dbSNP
5g.112835112A=CA1573471383APCc.1570A= (n.1570A=)
c.1959A= (p.Gly653=)
c.*1911A= (n.*1911A=)
c.1851A= (p.Gly617=)
c.1905A= (p.Gly635=)
c.258A=
c.594A= (p.Gly198=)
c.*1227A= (n.*1227A=)
c.230+6140A=
c.1935A= (p.Gly645=)
c.1830A= (p.Gly610=)
c.1821A= (p.Gly607=)
c.1782A= (p.Gly594=)
c.1728A= (p.Gly576=)
c.1632A= (p.Gly544=)
c.1602A= (p.Gly534=)
c.1527A= (p.Gly509=)
c.1425A= (p.Gly475=)
c.1056A= (p.Gly352=)
5g.112835112A>CCA445758914APCc.1570A>C (n.1570A>C)
c.1959A>C (p.Gly653=)
c.*1911A>C (n.*1911A>C)
c.1851A>C (p.Gly617=)
c.1905A>C (p.Gly635=)
c.258A>C
c.594A>C (p.Gly198=)
c.*1227A>C (n.*1227A>C)
c.230+6140A>C
c.1935A>C (p.Gly645=)
c.1830A>C (p.Gly610=)
c.1821A>C (p.Gly607=)
c.1782A>C (p.Gly594=)
c.1728A>C (p.Gly576=)
c.1632A>C (p.Gly544=)
c.1602A>C (p.Gly534=)
c.1527A>C (p.Gly509=)
c.1425A>C (p.Gly475=)
c.1056A>C (p.Gly352=)
 ClinVar
5g.112835112A>GCA445758915APCc.1570A>G (n.1570A>G)
c.1959A>G (p.Gly653=)
c.*1911A>G (n.*1911A>G)
c.1851A>G (p.Gly617=)
c.1905A>G (p.Gly635=)
c.258A>G
c.594A>G (p.Gly198=)
c.*1227A>G (n.*1227A>G)
c.230+6140A>G
c.1935A>G (p.Gly645=)
c.1830A>G (p.Gly610=)
c.1821A>G (p.Gly607=)
c.1782A>G (p.Gly594=)
c.1728A>G (p.Gly576=)
c.1632A>G (p.Gly544=)
c.1602A>G (p.Gly534=)
c.1527A>G (p.Gly509=)
c.1425A>G (p.Gly475=)
c.1056A>G (p.Gly352=)
 ClinVar dbSNP
5g.112835112A>TCA445758916APCc.1570A>T (n.1570A>T)
c.1959A>T (p.Gly653=)
c.*1911A>T (n.*1911A>T)
c.1851A>T (p.Gly617=)
c.1905A>T (p.Gly635=)
c.258A>T
c.594A>T (p.Gly198=)
c.*1227A>T (n.*1227A>T)
c.230+6140A>T
c.1935A>T (p.Gly645=)
c.1830A>T (p.Gly610=)
c.1821A>T (p.Gly607=)
c.1782A>T (p.Gly594=)
c.1728A>T (p.Gly576=)
c.1632A>T (p.Gly544=)
c.1602A>T (p.Gly534=)
c.1527A>T (p.Gly509=)
c.1425A>T (p.Gly475=)
c.1056A>T (p.Gly352=)
 dbSNP
5g.112835113G>ACA16025485APCc.1571G>A (n.1571G>A)
c.1960G>A (p.Gly654Ser)
c.*1912G>A (n.*1912G>A)
c.1852G>A (p.Gly618Ser)
c.1906G>A (p.Gly636Ser)
c.259G>A
c.595G>A (p.Gly199Ser)
c.*1228G>A (n.*1228G>A)
c.230+6141G>A
c.1936G>A (p.Gly646Ser)
c.1831G>A (p.Gly611Ser)
c.1822G>A (p.Gly608Ser)
c.1783G>A (p.Gly595Ser)
c.1729G>A (p.Gly577Ser)
c.1633G>A (p.Gly545Ser)
c.1603G>A (p.Gly535Ser)
c.1528G>A (p.Gly510Ser)
c.1426G>A (p.Gly476Ser)
c.1057G>A (p.Gly353Ser)
 ClinVar dbSNP
5g.112835113G>CCA16025486APCc.1571G>C (n.1571G>C)
c.1960G>C (p.Gly654Arg)
c.*1912G>C (n.*1912G>C)
c.1852G>C (p.Gly618Arg)
c.1906G>C (p.Gly636Arg)
c.259G>C
c.595G>C (p.Gly199Arg)
c.*1228G>C (n.*1228G>C)
c.230+6141G>C
c.1936G>C (p.Gly646Arg)
c.1831G>C (p.Gly611Arg)
c.1822G>C (p.Gly608Arg)
c.1783G>C (p.Gly595Arg)
c.1729G>C (p.Gly577Arg)
c.1633G>C (p.Gly545Arg)
c.1603G>C (p.Gly535Arg)
c.1528G>C (p.Gly510Arg)
c.1426G>C (p.Gly476Arg)
c.1057G>C (p.Gly353Arg)
 dbSNP
5g.112835113G=CA1139532121APCc.1571G= (n.1571G=)
c.1960G= (p.Gly654=)
c.*1912G= (n.*1912G=)
c.1852G= (p.Gly618=)
c.1906G= (p.Gly636=)
c.259G=
c.595G= (p.Gly199=)
c.*1228G= (n.*1228G=)
c.230+6141G=
c.1936G= (p.Gly646=)
c.1831G= (p.Gly611=)
c.1822G= (p.Gly608=)
c.1783G= (p.Gly595=)
c.1729G= (p.Gly577=)
c.1633G= (p.Gly545=)
c.1603G= (p.Gly535=)
c.1528G= (p.Gly510=)
c.1426G= (p.Gly476=)
c.1057G= (p.Gly353=)
5g.112835113G>TCA16025487APCc.1571G>T (n.1571G>T)
c.1960G>T (p.Gly654Cys)
c.*1912G>T (n.*1912G>T)
c.1852G>T (p.Gly618Cys)
c.1906G>T (p.Gly636Cys)
c.259G>T
c.595G>T (p.Gly199Cys)
c.*1228G>T (n.*1228G>T)
c.230+6141G>T
c.1936G>T (p.Gly646Cys)
c.1831G>T (p.Gly611Cys)
c.1822G>T (p.Gly608Cys)
c.1783G>T (p.Gly595Cys)
c.1729G>T (p.Gly577Cys)
c.1633G>T (p.Gly545Cys)
c.1603G>T (p.Gly535Cys)
c.1528G>T (p.Gly510Cys)
c.1426G>T (p.Gly476Cys)
c.1057G>T (p.Gly353Cys)
5g.112835114dupCA658760620APCc.1572dup (n.1572dup)
c.1961dup (p.Gly655TrpfsTer14)
c.*1913dup (n.*1913dup)
c.1853dup (p.Gly619TrpfsTer14)
c.1907dup (p.Gly637TrpfsTer14)
c.260dup
c.596dup (p.Gly200TrpfsTer14)
c.*1229dup (n.*1229dup)
c.230+6142dup
c.1937dup (p.Gly647TrpfsTer14)
c.1832dup (p.Gly612TrpfsTer14)
c.1823dup (p.Gly609TrpfsTer14)
c.1784dup (p.Gly596TrpfsTer14)
c.1730dup (p.Gly578TrpfsTer14)
c.1634dup (p.Gly546TrpfsTer14)
c.1604dup (p.Gly536TrpfsTer14)
c.1529dup (p.Gly511TrpfsTer14)
c.1427dup (p.Gly477TrpfsTer14)
c.1058dup (p.Gly354TrpfsTer14)
 ClinVar
5g.112835113_112835114dupCA1139771885APCc.1571_1572dup (n.1571_1572dup)
c.1960_1961dup (p.Gly655ValfsTer10)
c.*1912_*1913dup (n.*1912_*1913dup)
c.1852_1853dup (p.Gly619ValfsTer10)
c.1906_1907dup (p.Gly637ValfsTer10)
c.259_260dup
c.595_596dup (p.Gly200ValfsTer10)
c.*1228_*1229dup (n.*1228_*1229dup)
c.230+6141_230+6142dup
c.1936_1937dup (p.Gly647ValfsTer10)
c.1831_1832dup (p.Gly612ValfsTer10)
c.1822_1823dup (p.Gly609ValfsTer10)
c.1783_1784dup (p.Gly596ValfsTer10)
c.1729_1730dup (p.Gly578ValfsTer10)
c.1633_1634dup (p.Gly546ValfsTer10)
c.1603_1604dup (p.Gly536ValfsTer10)
c.1528_1529dup (p.Gly511ValfsTer10)
c.1426_1427dup (p.Gly477ValfsTer10)
c.1057_1058dup (p.Gly354ValfsTer10)
5g.112835114delCA658760621APCc.1572del (n.1572del)
c.1961del (p.Gly654ValfsTer10)
c.*1913del (n.*1913del)
c.1853del (p.Gly618ValfsTer10)
c.1907del (p.Gly636ValfsTer10)
c.260del
c.596del (p.Gly199ValfsTer10)
c.*1229del (n.*1229del)
c.230+6142del
c.1937del (p.Gly646ValfsTer10)
c.1832del (p.Gly611ValfsTer10)
c.1823del (p.Gly608ValfsTer10)
c.1784del (p.Gly595ValfsTer10)
c.1730del (p.Gly577ValfsTer10)
c.1634del (p.Gly545ValfsTer10)
c.1604del (p.Gly535ValfsTer10)
c.1529del (p.Gly510ValfsTer10)
c.1427del (p.Gly476ValfsTer10)
c.1058del (p.Gly353ValfsTer10)
5g.112835114G>ACA16025488APCc.1572G>A (n.1572G>A)
c.1961G>A (p.Gly654Asp)
c.*1913G>A (n.*1913G>A)
c.1853G>A (p.Gly618Asp)
c.1907G>A (p.Gly636Asp)
c.260G>A
c.596G>A (p.Gly199Asp)
c.*1229G>A (n.*1229G>A)
c.230+6142G>A
c.1937G>A (p.Gly646Asp)
c.1832G>A (p.Gly611Asp)
c.1823G>A (p.Gly608Asp)
c.1784G>A (p.Gly595Asp)
c.1730G>A (p.Gly577Asp)
c.1634G>A (p.Gly545Asp)
c.1604G>A (p.Gly535Asp)
c.1529G>A (p.Gly510Asp)
c.1427G>A (p.Gly476Asp)
c.1058G>A (p.Gly353Asp)
 ClinVar dbSNP COSMIC
5g.112835114G>CCA16025489APCc.1572G>C (n.1572G>C)
c.1961G>C (p.Gly654Ala)
c.*1913G>C (n.*1913G>C)
c.1853G>C (p.Gly618Ala)
c.1907G>C (p.Gly636Ala)
c.260G>C
c.596G>C (p.Gly199Ala)
c.*1229G>C (n.*1229G>C)
c.230+6142G>C
c.1937G>C (p.Gly646Ala)
c.1832G>C (p.Gly611Ala)
c.1823G>C (p.Gly608Ala)
c.1784G>C (p.Gly595Ala)
c.1730G>C (p.Gly577Ala)
c.1634G>C (p.Gly545Ala)
c.1604G>C (p.Gly535Ala)
c.1529G>C (p.Gly510Ala)
c.1427G>C (p.Gly476Ala)
c.1058G>C (p.Gly353Ala)
 dbSNP
5g.112835114G>TCA16025490APCc.1572G>T (n.1572G>T)
c.1961G>T (p.Gly654Val)
c.*1913G>T (n.*1913G>T)
c.1853G>T (p.Gly618Val)
c.1907G>T (p.Gly636Val)
c.260G>T
c.596G>T (p.Gly199Val)
c.*1229G>T (n.*1229G>T)
c.230+6142G>T
c.1937G>T (p.Gly646Val)
c.1832G>T (p.Gly611Val)
c.1823G>T (p.Gly608Val)
c.1784G>T (p.Gly595Val)
c.1730G>T (p.Gly577Val)
c.1634G>T (p.Gly545Val)
c.1604G>T (p.Gly535Val)
c.1529G>T (p.Gly510Val)
c.1427G>T (p.Gly476Val)
c.1058G>T (p.Gly353Val)
 dbSNP
5g.112835115_112835116dupCA1573471390APCc.1573_1574dup (n.1573_1574dup)
c.1962_1963dup (p.Gly655ValfsTer10)
c.*1914_*1915dup (n.*1914_*1915dup)
c.1854_1855dup (p.Gly619ValfsTer10)
c.1908_1909dup (p.Gly637ValfsTer10)
c.261_262dup
c.597_598dup (p.Gly200ValfsTer10)
c.*1230_*1231dup (n.*1230_*1231dup)
c.230+6143_230+6144dup
c.1938_1939dup (p.Gly647ValfsTer10)
c.1833_1834dup (p.Gly612ValfsTer10)
c.1824_1825dup (p.Gly609ValfsTer10)
c.1785_1786dup (p.Gly596ValfsTer10)
c.1731_1732dup (p.Gly578ValfsTer10)
c.1635_1636dup (p.Gly546ValfsTer10)
c.1605_1606dup (p.Gly536ValfsTer10)
c.1530_1531dup (p.Gly511ValfsTer10)
c.1428_1429dup (p.Gly477ValfsTer10)
c.1059_1060dup (p.Gly354ValfsTer10)
 ClinVar dbSNP
5g.112835115T>ACA445758917APCc.1573T>A (n.1573T>A)
c.1962T>A (p.Gly654=)
c.*1914T>A (n.*1914T>A)
c.1854T>A (p.Gly618=)
c.1908T>A (p.Gly636=)
c.261T>A
c.597T>A (p.Gly199=)
c.*1230T>A (n.*1230T>A)
c.230+6143T>A
c.1938T>A (p.Gly646=)
c.1833T>A (p.Gly611=)
c.1824T>A (p.Gly608=)
c.1785T>A (p.Gly595=)
c.1731T>A (p.Gly577=)
c.1635T>A (p.Gly545=)
c.1605T>A (p.Gly535=)
c.1530T>A (p.Gly510=)
c.1428T>A (p.Gly476=)
c.1059T>A (p.Gly353=)
5g.112835115T>CCA006295APCc.1573T>C (n.1573T>C)
c.1962T>C (p.Gly654=)
c.*1914T>C (n.*1914T>C)
c.1854T>C (p.Gly618=)
c.1908T>C (p.Gly636=)
c.261T>C
c.597T>C (p.Gly199=)
c.*1230T>C (n.*1230T>C)
c.230+6143T>C
c.1938T>C (p.Gly646=)
c.1833T>C (p.Gly611=)
c.1824T>C (p.Gly608=)
c.1785T>C (p.Gly595=)
c.1731T>C (p.Gly577=)
c.1635T>C (p.Gly545=)
c.1605T>C (p.Gly535=)
c.1530T>C (p.Gly510=)
c.1428T>C (p.Gly476=)
c.1059T>C (p.Gly353=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112835115T>GCA006300APCc.1573T>G (n.1573T>G)
c.1962T>G (p.Gly654=)
c.*1914T>G (n.*1914T>G)
c.1854T>G (p.Gly618=)
c.1908T>G (p.Gly636=)
c.261T>G
c.597T>G (p.Gly199=)
c.*1230T>G (n.*1230T>G)
c.230+6143T>G
c.1938T>G (p.Gly646=)
c.1833T>G (p.Gly611=)
c.1824T>G (p.Gly608=)
c.1785T>G (p.Gly595=)
c.1731T>G (p.Gly577=)
c.1635T>G (p.Gly545=)
c.1605T>G (p.Gly535=)
c.1530T>G (p.Gly510=)
c.1428T>G (p.Gly476=)
c.1059T>G (p.Gly353=)
 ClinVar dbSNP
5g.112835115T=CA1573471401APCc.1573T= (n.1573T=)
c.1962T= (p.Gly654=)
c.*1914T= (n.*1914T=)
c.1854T= (p.Gly618=)
c.1908T= (p.Gly636=)
c.261T=
c.597T= (p.Gly199=)
c.*1230T= (n.*1230T=)
c.230+6143T=
c.1938T= (p.Gly646=)
c.1833T= (p.Gly611=)
c.1824T= (p.Gly608=)
c.1785T= (p.Gly595=)
c.1731T= (p.Gly577=)
c.1635T= (p.Gly545=)
c.1605T= (p.Gly535=)
c.1530T= (p.Gly510=)
c.1428T= (p.Gly476=)
c.1059T= (p.Gly353=)
5g.112835116G>ACA16025491APCc.1574G>A (n.1574G>A)
c.1963G>A (p.Gly655Arg)
c.*1915G>A (n.*1915G>A)
c.1855G>A (p.Gly619Arg)
c.1909G>A (p.Gly637Arg)
c.262G>A
c.598G>A (p.Gly200Arg)
c.*1231G>A (n.*1231G>A)
c.230+6144G>A
c.1939G>A (p.Gly647Arg)
c.1834G>A (p.Gly612Arg)
c.1825G>A (p.Gly609Arg)
c.1786G>A (p.Gly596Arg)
c.1732G>A (p.Gly578Arg)
c.1636G>A (p.Gly546Arg)
c.1606G>A (p.Gly536Arg)
c.1531G>A (p.Gly511Arg)
c.1429G>A (p.Gly477Arg)
c.1060G>A (p.Gly354Arg)
 ClinVar dbSNP
5g.112835116G>CCA16025492APCc.1574G>C (n.1574G>C)
c.1963G>C (p.Gly655Arg)
c.*1915G>C (n.*1915G>C)
c.1855G>C (p.Gly619Arg)
c.1909G>C (p.Gly637Arg)
c.262G>C
c.598G>C (p.Gly200Arg)
c.*1231G>C (n.*1231G>C)
c.230+6144G>C
c.1939G>C (p.Gly647Arg)
c.1834G>C (p.Gly612Arg)
c.1825G>C (p.Gly609Arg)
c.1786G>C (p.Gly596Arg)
c.1732G>C (p.Gly578Arg)
c.1636G>C (p.Gly546Arg)
c.1606G>C (p.Gly536Arg)
c.1531G>C (p.Gly511Arg)
c.1429G>C (p.Gly477Arg)
c.1060G>C (p.Gly354Arg)
 dbSNP
5g.112835116G=CA1573471411APCc.1574G= (n.1574G=)
c.1963G= (p.Gly655=)
c.*1915G= (n.*1915G=)
c.1855G= (p.Gly619=)
c.1909G= (p.Gly637=)
c.262G=
c.598G= (p.Gly200=)
c.*1231G= (n.*1231G=)
c.230+6144G=
c.1939G= (p.Gly647=)
c.1834G= (p.Gly612=)
c.1825G= (p.Gly609=)
c.1786G= (p.Gly596=)
c.1732G= (p.Gly578=)
c.1636G= (p.Gly546=)
c.1606G= (p.Gly536=)
c.1531G= (p.Gly511=)
c.1429G= (p.Gly477=)
c.1060G= (p.Gly354=)
5g.112835116G>TCA16025493APCc.1574G>T (n.1574G>T)
c.1963G>T (p.Gly655Trp)
c.*1915G>T (n.*1915G>T)
c.1855G>T (p.Gly619Trp)
c.1909G>T (p.Gly637Trp)
c.262G>T
c.598G>T (p.Gly200Trp)
c.*1231G>T (n.*1231G>T)
c.230+6144G>T
c.1939G>T (p.Gly647Trp)
c.1834G>T (p.Gly612Trp)
c.1825G>T (p.Gly609Trp)
c.1786G>T (p.Gly596Trp)
c.1732G>T (p.Gly578Trp)
c.1636G>T (p.Gly546Trp)
c.1606G>T (p.Gly536Trp)
c.1531G>T (p.Gly511Trp)
c.1429G>T (p.Gly477Trp)
c.1060G>T (p.Gly354Trp)
5g.112835118delCA2709982779APCc.1576del (n.1576del)
c.1965del (p.Ile656TyrfsTer8)
c.*1917del (n.*1917del)
c.1857del (p.Ile620TyrfsTer8)
c.1911del (p.Ile638TyrfsTer8)
c.264del
c.600del (p.Ile201TyrfsTer8)
c.*1233del (n.*1233del)
c.230+6146del
c.1941del (p.Ile648TyrfsTer8)
c.1836del (p.Ile613TyrfsTer8)
c.1827del (p.Ile610TyrfsTer8)
c.1788del (p.Ile597TyrfsTer8)
c.1734del (p.Ile579TyrfsTer8)
c.1638del (p.Ile547TyrfsTer8)
c.1608del (p.Ile537TyrfsTer8)
c.1533del (p.Ile512TyrfsTer8)
c.1431del (p.Ile478TyrfsTer8)
c.1062del (p.Ile355TyrfsTer8)
 dbSNP
5g.112835117G>ACA16025494APCc.1575G>A (n.1575G>A)
c.1964G>A (p.Gly655Glu)
c.*1916G>A (n.*1916G>A)
c.1856G>A (p.Gly619Glu)
c.1910G>A (p.Gly637Glu)
c.263G>A
c.599G>A (p.Gly200Glu)
c.*1232G>A (n.*1232G>A)
c.230+6145G>A
c.1940G>A (p.Gly647Glu)
c.1835G>A (p.Gly612Glu)
c.1826G>A (p.Gly609Glu)
c.1787G>A (p.Gly596Glu)
c.1733G>A (p.Gly578Glu)
c.1637G>A (p.Gly546Glu)
c.1607G>A (p.Gly536Glu)
c.1532G>A (p.Gly511Glu)
c.1430G>A (p.Gly477Glu)
c.1061G>A (p.Gly354Glu)
 dbSNP gnomAD v4
5g.112835117G>CCA16025495APCc.1575G>C (n.1575G>C)
c.1964G>C (p.Gly655Ala)
c.*1916G>C (n.*1916G>C)
c.1856G>C (p.Gly619Ala)
c.1910G>C (p.Gly637Ala)
c.263G>C
c.599G>C (p.Gly200Ala)
c.*1232G>C (n.*1232G>C)
c.230+6145G>C
c.1940G>C (p.Gly647Ala)
c.1835G>C (p.Gly612Ala)
c.1826G>C (p.Gly609Ala)
c.1787G>C (p.Gly596Ala)
c.1733G>C (p.Gly578Ala)
c.1637G>C (p.Gly546Ala)
c.1607G>C (p.Gly536Ala)
c.1532G>C (p.Gly511Ala)
c.1430G>C (p.Gly477Ala)
c.1061G>C (p.Gly354Ala)
 dbSNP
5g.112835117G>TCA16025496APCc.1575G>T (n.1575G>T)
c.1964G>T (p.Gly655Val)
c.*1916G>T (n.*1916G>T)
c.1856G>T (p.Gly619Val)
c.1910G>T (p.Gly637Val)
c.263G>T
c.599G>T (p.Gly200Val)
c.*1232G>T (n.*1232G>T)
c.230+6145G>T
c.1940G>T (p.Gly647Val)
c.1835G>T (p.Gly612Val)
c.1826G>T (p.Gly609Val)
c.1787G>T (p.Gly596Val)
c.1733G>T (p.Gly578Val)
c.1637G>T (p.Gly546Val)
c.1607G>T (p.Gly536Val)
c.1532G>T (p.Gly511Val)
c.1430G>T (p.Gly477Val)
c.1061G>T (p.Gly354Val)
 dbSNP
5g.112835118G>ACA445758920APCc.1576G>A (n.1576G>A)
c.1965G>A (p.Gly655=)
c.*1917G>A (n.*1917G>A)
c.1857G>A (p.Gly619=)
c.1911G>A (p.Gly637=)
c.264G>A
c.600G>A (p.Gly200=)
c.*1233G>A (n.*1233G>A)
c.230+6146G>A
c.1941G>A (p.Gly647=)
c.1836G>A (p.Gly612=)
c.1827G>A (p.Gly609=)
c.1788G>A (p.Gly596=)
c.1734G>A (p.Gly578=)
c.1638G>A (p.Gly546=)
c.1608G>A (p.Gly536=)
c.1533G>A (p.Gly511=)
c.1431G>A (p.Gly477=)
c.1062G>A (p.Gly354=)
 ClinVar dbSNP
5g.112835118G>CCA445758919APCc.1576G>C (n.1576G>C)
c.1965G>C (p.Gly655=)
c.*1917G>C (n.*1917G>C)
c.1857G>C (p.Gly619=)
c.1911G>C (p.Gly637=)
c.264G>C
c.600G>C (p.Gly200=)
c.*1233G>C (n.*1233G>C)
c.230+6146G>C
c.1941G>C (p.Gly647=)
c.1836G>C (p.Gly612=)
c.1827G>C (p.Gly609=)
c.1788G>C (p.Gly596=)
c.1734G>C (p.Gly578=)
c.1638G>C (p.Gly546=)
c.1608G>C (p.Gly536=)
c.1533G>C (p.Gly511=)
c.1431G>C (p.Gly477=)
c.1062G>C (p.Gly354=)
 dbSNP
5g.112835118G>TCA445758918APCc.1576G>T (n.1576G>T)
c.1965G>T (p.Gly655=)
c.*1917G>T (n.*1917G>T)
c.1857G>T (p.Gly619=)
c.1911G>T (p.Gly637=)
c.264G>T
c.600G>T (p.Gly200=)
c.*1233G>T (n.*1233G>T)
c.230+6146G>T
c.1941G>T (p.Gly647=)
c.1836G>T (p.Gly612=)
c.1827G>T (p.Gly609=)
c.1788G>T (p.Gly596=)
c.1734G>T (p.Gly578=)
c.1638G>T (p.Gly546=)
c.1608G>T (p.Gly536=)
c.1533G>T (p.Gly511=)
c.1431G>T (p.Gly477=)
c.1062G>T (p.Gly354=)
 dbSNP gnomAD v4
5g.112835119A=CA1573471421APCc.1577A= (n.1577A=)
c.1966A= (p.Ile656=)
c.*1918A= (n.*1918A=)
c.1858A= (p.Ile620=)
c.1912A= (p.Ile638=)
c.265A=
c.601A= (p.Ile201=)
c.*1234A= (n.*1234A=)
c.230+6147A=
c.1942A= (p.Ile648=)
c.1837A= (p.Ile613=)
c.1828A= (p.Ile610=)
c.1789A= (p.Ile597=)
c.1735A= (p.Ile579=)
c.1639A= (p.Ile547=)
c.1609A= (p.Ile537=)
c.1534A= (p.Ile512=)
c.1432A= (p.Ile478=)
c.1063A= (p.Ile355=)
5g.112835119A>CCA16025497APCc.1577A>C (n.1577A>C)
c.1966A>C (p.Ile656Leu)
c.*1918A>C (n.*1918A>C)
c.1858A>C (p.Ile620Leu)
c.1912A>C (p.Ile638Leu)
c.265A>C
c.601A>C (p.Ile201Leu)
c.*1234A>C (n.*1234A>C)
c.230+6147A>C
c.1942A>C (p.Ile648Leu)
c.1837A>C (p.Ile613Leu)
c.1828A>C (p.Ile610Leu)
c.1789A>C (p.Ile597Leu)
c.1735A>C (p.Ile579Leu)
c.1639A>C (p.Ile547Leu)
c.1609A>C (p.Ile537Leu)
c.1534A>C (p.Ile512Leu)
c.1432A>C (p.Ile478Leu)
c.1063A>C (p.Ile355Leu)
 ClinVar dbSNP
5g.112835119A>GCA006325APCc.1577A>G (n.1577A>G)
c.1966A>G (p.Ile656Val)
c.*1918A>G (n.*1918A>G)
c.1858A>G (p.Ile620Val)
c.1912A>G (p.Ile638Val)
c.265A>G
c.601A>G (p.Ile201Val)
c.*1234A>G (n.*1234A>G)
c.230+6147A>G
c.1942A>G (p.Ile648Val)
c.1837A>G (p.Ile613Val)
c.1828A>G (p.Ile610Val)
c.1789A>G (p.Ile597Val)
c.1735A>G (p.Ile579Val)
c.1639A>G (p.Ile547Val)
c.1609A>G (p.Ile537Val)
c.1534A>G (p.Ile512Val)
c.1432A>G (p.Ile478Val)
c.1063A>G (p.Ile355Val)
 ClinVar dbSNP gnomAD v4
5g.112835119A>TCA006331APCc.1577A>T (n.1577A>T)
c.1966A>T (p.Ile656Leu)
c.*1918A>T (n.*1918A>T)
c.1858A>T (p.Ile620Leu)
c.1912A>T (p.Ile638Leu)
c.265A>T
c.601A>T (p.Ile201Leu)
c.*1234A>T (n.*1234A>T)
c.230+6147A>T
c.1942A>T (p.Ile648Leu)
c.1837A>T (p.Ile613Leu)
c.1828A>T (p.Ile610Leu)
c.1789A>T (p.Ile597Leu)
c.1735A>T (p.Ile579Leu)
c.1639A>T (p.Ile547Leu)
c.1609A>T (p.Ile537Leu)
c.1534A>T (p.Ile512Leu)
c.1432A>T (p.Ile478Leu)
c.1063A>T (p.Ile355Leu)
 ClinVar dbSNP
5g.112835120T>ACA16025498APCc.1578T>A (n.1578T>A)
c.1967T>A (p.Ile656Lys)
c.*1919T>A (n.*1919T>A)
c.1859T>A (p.Ile620Lys)
c.1913T>A (p.Ile638Lys)
c.266T>A
c.602T>A (p.Ile201Lys)
c.*1235T>A (n.*1235T>A)
c.230+6148T>A
c.1943T>A (p.Ile648Lys)
c.1838T>A (p.Ile613Lys)
c.1829T>A (p.Ile610Lys)
c.1790T>A (p.Ile597Lys)
c.1736T>A (p.Ile579Lys)
c.1640T>A (p.Ile547Lys)
c.1610T>A (p.Ile537Lys)
c.1535T>A (p.Ile512Lys)
c.1433T>A (p.Ile478Lys)
c.1064T>A (p.Ile355Lys)
 dbSNP
5g.112835120T>CCA16025499APCc.1578T>C (n.1578T>C)
c.1967T>C (p.Ile656Thr)
c.*1919T>C (n.*1919T>C)
c.1859T>C (p.Ile620Thr)
c.1913T>C (p.Ile638Thr)
c.266T>C
c.602T>C (p.Ile201Thr)
c.*1235T>C (n.*1235T>C)
c.230+6148T>C
c.1943T>C (p.Ile648Thr)
c.1838T>C (p.Ile613Thr)
c.1829T>C (p.Ile610Thr)
c.1790T>C (p.Ile597Thr)
c.1736T>C (p.Ile579Thr)
c.1640T>C (p.Ile547Thr)
c.1610T>C (p.Ile537Thr)
c.1535T>C (p.Ile512Thr)
c.1433T>C (p.Ile478Thr)
c.1064T>C (p.Ile355Thr)
 ClinVar
5g.112835120T>GCA16025500APCc.1578T>G (n.1578T>G)
c.1967T>G (p.Ile656Arg)
c.*1919T>G (n.*1919T>G)
c.1859T>G (p.Ile620Arg)
c.1913T>G (p.Ile638Arg)
c.266T>G
c.602T>G (p.Ile201Arg)
c.*1235T>G (n.*1235T>G)
c.230+6148T>G
c.1943T>G (p.Ile648Arg)
c.1838T>G (p.Ile613Arg)
c.1829T>G (p.Ile610Arg)
c.1790T>G (p.Ile597Arg)
c.1736T>G (p.Ile579Arg)
c.1640T>G (p.Ile547Arg)
c.1610T>G (p.Ile537Arg)
c.1535T>G (p.Ile512Arg)
c.1433T>G (p.Ile478Arg)
c.1064T>G (p.Ile355Arg)
 dbSNP
5g.112835121A=CA1573471434APCc.1579A= (n.1579A=)
c.1968A= (p.Ile656=)
c.*1920A= (n.*1920A=)
c.1860A= (p.Ile620=)
c.1914A= (p.Ile638=)
c.267A=
c.603A= (p.Ile201=)
c.*1236A= (n.*1236A=)
c.230+6149A=
c.1944A= (p.Ile648=)
c.1839A= (p.Ile613=)
c.1830A= (p.Ile610=)
c.1791A= (p.Ile597=)
c.1737A= (p.Ile579=)
c.1641A= (p.Ile547=)
c.1611A= (p.Ile537=)
c.1536A= (p.Ile512=)
c.1434A= (p.Ile478=)
c.1065A= (p.Ile355=)
5g.112835121A>CCA445758921APCc.1579A>C (n.1579A>C)
c.1968A>C (p.Ile656=)
c.*1920A>C (n.*1920A>C)
c.1860A>C (p.Ile620=)
c.1914A>C (p.Ile638=)
c.267A>C
c.603A>C (p.Ile201=)
c.*1236A>C (n.*1236A>C)
c.230+6149A>C
c.1944A>C (p.Ile648=)
c.1839A>C (p.Ile613=)
c.1830A>C (p.Ile610=)
c.1791A>C (p.Ile597=)
c.1737A>C (p.Ile579=)
c.1641A>C (p.Ile547=)
c.1611A>C (p.Ile537=)
c.1536A>C (p.Ile512=)
c.1434A>C (p.Ile478=)
c.1065A>C (p.Ile355=)
5g.112835121A>GCA006359APCc.1579A>G (n.1579A>G)
c.1968A>G (p.Ile656Met)
c.*1920A>G (n.*1920A>G)
c.1860A>G (p.Ile620Met)
c.1914A>G (p.Ile638Met)
c.267A>G
c.603A>G (p.Ile201Met)
c.*1236A>G (n.*1236A>G)
c.230+6149A>G
c.1944A>G (p.Ile648Met)
c.1839A>G (p.Ile613Met)
c.1830A>G (p.Ile610Met)
c.1791A>G (p.Ile597Met)
c.1737A>G (p.Ile579Met)
c.1641A>G (p.Ile547Met)
c.1611A>G (p.Ile537Met)
c.1536A>G (p.Ile512Met)
c.1434A>G (p.Ile478Met)
c.1065A>G (p.Ile355Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112835121A>TCA445758922APCc.1579A>T (n.1579A>T)
c.1968A>T (p.Ile656=)
c.*1920A>T (n.*1920A>T)
c.1860A>T (p.Ile620=)
c.1914A>T (p.Ile638=)
c.267A>T
c.603A>T (p.Ile201=)
c.*1236A>T (n.*1236A>T)
c.230+6149A>T
c.1944A>T (p.Ile648=)
c.1839A>T (p.Ile613=)
c.1830A>T (p.Ile610=)
c.1791A>T (p.Ile597=)
c.1737A>T (p.Ile579=)
c.1641A>T (p.Ile547=)
c.1611A>T (p.Ile537=)
c.1536A>T (p.Ile512=)
c.1434A>T (p.Ile478=)
c.1065A>T (p.Ile355=)
 ClinVar
5g.112835122T>ACA16025501APCc.1580T>A (n.1580T>A)
c.1969T>A (p.Leu657Ile)
c.*1921T>A (n.*1921T>A)
c.1861T>A (p.Leu621Ile)
c.1915T>A (p.Leu639Ile)
c.268T>A
c.604T>A (p.Leu202Ile)
c.*1237T>A (n.*1237T>A)
c.230+6150T>A
c.1945T>A (p.Leu649Ile)
c.1840T>A (p.Leu614Ile)
c.1831T>A (p.Leu611Ile)
c.1792T>A (p.Leu598Ile)
c.1738T>A (p.Leu580Ile)
c.1642T>A (p.Leu548Ile)
c.1612T>A (p.Leu538Ile)
c.1537T>A (p.Leu513Ile)
c.1435T>A (p.Leu479Ile)
c.1066T>A (p.Leu356Ile)
 dbSNP
5g.112835122T>CCA445758923APCc.1580T>C (n.1580T>C)
c.1969T>C (p.Leu657=)
c.*1921T>C (n.*1921T>C)
c.1861T>C (p.Leu621=)
c.1915T>C (p.Leu639=)
c.268T>C
c.604T>C (p.Leu202=)
c.*1237T>C (n.*1237T>C)
c.230+6150T>C
c.1945T>C (p.Leu649=)
c.1840T>C (p.Leu614=)
c.1831T>C (p.Leu611=)
c.1792T>C (p.Leu598=)
c.1738T>C (p.Leu580=)
c.1642T>C (p.Leu548=)
c.1612T>C (p.Leu538=)
c.1537T>C (p.Leu513=)
c.1435T>C (p.Leu479=)
c.1066T>C (p.Leu356=)
5g.112835122T>GCA16025502APCc.1580T>G (n.1580T>G)
c.1969T>G (p.Leu657Val)
c.*1921T>G (n.*1921T>G)
c.1861T>G (p.Leu621Val)
c.1915T>G (p.Leu639Val)
c.268T>G
c.604T>G (p.Leu202Val)
c.*1237T>G (n.*1237T>G)
c.230+6150T>G
c.1945T>G (p.Leu649Val)
c.1840T>G (p.Leu614Val)
c.1831T>G (p.Leu611Val)
c.1792T>G (p.Leu598Val)
c.1738T>G (p.Leu580Val)
c.1642T>G (p.Leu548Val)
c.1612T>G (p.Leu538Val)
c.1537T>G (p.Leu513Val)
c.1435T>G (p.Leu479Val)
c.1066T>G (p.Leu356Val)
5g.112835123delCA658760622APCc.1581del (n.1581del)
c.1970del (p.Leu657TyrfsTer7)
c.*1922del (n.*1922del)
c.1862del (p.Leu621TyrfsTer7)
c.1916del (p.Leu639TyrfsTer7)
c.269del
c.605del (p.Leu202TyrfsTer7)
c.*1238del (n.*1238del)
c.230+6151del
c.1946del (p.Leu649TyrfsTer7)
c.1841del (p.Leu614TyrfsTer7)
c.1832del (p.Leu611TyrfsTer7)
c.1793del (p.Leu598TyrfsTer7)
c.1739del (p.Leu580TyrfsTer7)
c.1643del (p.Leu548TyrfsTer7)
c.1613del (p.Leu538TyrfsTer7)
c.1538del (p.Leu513TyrfsTer7)
c.1436del (p.Leu479TyrfsTer7)
c.1067del (p.Leu356TyrfsTer7)
 dbSNP
5g.112835123T>ACA16025503APCc.1581T>A (n.1581T>A)
c.1970T>A (p.Leu657Ter)
c.*1922T>A (n.*1922T>A)
c.1862T>A (p.Leu621Ter)
c.1916T>A (p.Leu639Ter)
c.269T>A
c.605T>A (p.Leu202Ter)
c.*1238T>A (n.*1238T>A)
c.230+6151T>A
c.1946T>A (p.Leu649Ter)
c.1841T>A (p.Leu614Ter)
c.1832T>A (p.Leu611Ter)
c.1793T>A (p.Leu598Ter)
c.1739T>A (p.Leu580Ter)
c.1643T>A (p.Leu548Ter)
c.1613T>A (p.Leu538Ter)
c.1538T>A (p.Leu513Ter)
c.1436T>A (p.Leu479Ter)
c.1067T>A (p.Leu356Ter)
5g.112835123T>CCA16025504APCc.1581T>C (n.1581T>C)
c.1970T>C (p.Leu657Ser)
c.*1922T>C (n.*1922T>C)
c.1862T>C (p.Leu621Ser)
c.1916T>C (p.Leu639Ser)
c.269T>C
c.605T>C (p.Leu202Ser)
c.*1238T>C (n.*1238T>C)
c.230+6151T>C
c.1946T>C (p.Leu649Ser)
c.1841T>C (p.Leu614Ser)
c.1832T>C (p.Leu611Ser)
c.1793T>C (p.Leu598Ser)
c.1739T>C (p.Leu580Ser)
c.1643T>C (p.Leu548Ser)
c.1613T>C (p.Leu538Ser)
c.1538T>C (p.Leu513Ser)
c.1436T>C (p.Leu479Ser)
c.1067T>C (p.Leu356Ser)
 dbSNP
5g.112835123T>GCA16025505APCc.1581T>G (n.1581T>G)
c.1970T>G (p.Leu657Ter)
c.*1922T>G (n.*1922T>G)
c.1862T>G (p.Leu621Ter)
c.1916T>G (p.Leu639Ter)
c.269T>G
c.605T>G (p.Leu202Ter)
c.*1238T>G (n.*1238T>G)
c.230+6151T>G
c.1946T>G (p.Leu649Ter)
c.1841T>G (p.Leu614Ter)
c.1832T>G (p.Leu611Ter)
c.1793T>G (p.Leu598Ter)
c.1739T>G (p.Leu580Ter)
c.1643T>G (p.Leu548Ter)
c.1613T>G (p.Leu538Ter)
c.1538T>G (p.Leu513Ter)
c.1436T>G (p.Leu479Ter)
c.1067T>G (p.Leu356Ter)
 COSMIC
5g.112835123T=CA1573471444APCc.1581T= (n.1581T=)
c.1970T= (p.Leu657=)
c.*1922T= (n.*1922T=)
c.1862T= (p.Leu621=)
c.1916T= (p.Leu639=)
c.269T=
c.605T= (p.Leu202=)
c.*1238T= (n.*1238T=)
c.230+6151T=
c.1946T= (p.Leu649=)
c.1841T= (p.Leu614=)
c.1832T= (p.Leu611=)
c.1793T= (p.Leu598=)
c.1739T= (p.Leu580=)
c.1643T= (p.Leu548=)
c.1613T= (p.Leu538=)
c.1538T= (p.Leu513=)
c.1436T= (p.Leu479=)
c.1067T= (p.Leu356=)
5g.112835124A=CA1573471447APCc.1582A= (n.1582A=)
c.1971A= (p.Leu657=)
c.*1923A= (n.*1923A=)
c.1863A= (p.Leu621=)
c.1917A= (p.Leu639=)
c.270A=
c.606A= (p.Leu202=)
c.*1239A= (n.*1239A=)
c.230+6152A=
c.1947A= (p.Leu649=)
c.1842A= (p.Leu614=)
c.1833A= (p.Leu611=)
c.1794A= (p.Leu598=)
c.1740A= (p.Leu580=)
c.1644A= (p.Leu548=)
c.1614A= (p.Leu538=)
c.1539A= (p.Leu513=)
c.1437A= (p.Leu479=)
c.1068A= (p.Leu356=)
5g.112835124A>CCA16025506APCc.1582A>C (n.1582A>C)
c.1971A>C (p.Leu657Phe)
c.*1923A>C (n.*1923A>C)
c.1863A>C (p.Leu621Phe)
c.1917A>C (p.Leu639Phe)
c.270A>C
c.606A>C (p.Leu202Phe)
c.*1239A>C (n.*1239A>C)
c.230+6152A>C
c.1947A>C (p.Leu649Phe)
c.1842A>C (p.Leu614Phe)
c.1833A>C (p.Leu611Phe)
c.1794A>C (p.Leu598Phe)
c.1740A>C (p.Leu580Phe)
c.1644A>C (p.Leu548Phe)
c.1614A>C (p.Leu538Phe)
c.1539A>C (p.Leu513Phe)
c.1437A>C (p.Leu479Phe)
c.1068A>C (p.Leu356Phe)
5g.112835124A>GCA445758924APCc.1582A>G (n.1582A>G)
c.1971A>G (p.Leu657=)
c.*1923A>G (n.*1923A>G)
c.1863A>G (p.Leu621=)
c.1917A>G (p.Leu639=)
c.270A>G
c.606A>G (p.Leu202=)
c.*1239A>G (n.*1239A>G)
c.230+6152A>G
c.1947A>G (p.Leu649=)
c.1842A>G (p.Leu614=)
c.1833A>G (p.Leu611=)
c.1794A>G (p.Leu598=)
c.1740A>G (p.Leu580=)
c.1644A>G (p.Leu548=)
c.1614A>G (p.Leu538=)
c.1539A>G (p.Leu513=)
c.1437A>G (p.Leu479=)
c.1068A>G (p.Leu356=)
 ClinVar dbSNP
5g.112835124A>TCA16025507APCc.1582A>T (n.1582A>T)
c.1971A>T (p.Leu657Phe)
c.*1923A>T (n.*1923A>T)
c.1863A>T (p.Leu621Phe)
c.1917A>T (p.Leu639Phe)
c.270A>T
c.606A>T (p.Leu202Phe)
c.*1239A>T (n.*1239A>T)
c.230+6152A>T
c.1947A>T (p.Leu649Phe)
c.1842A>T (p.Leu614Phe)
c.1833A>T (p.Leu611Phe)
c.1794A>T (p.Leu598Phe)
c.1740A>T (p.Leu580Phe)
c.1644A>T (p.Leu548Phe)
c.1614A>T (p.Leu538Phe)
c.1539A>T (p.Leu513Phe)
c.1437A>T (p.Leu479Phe)
c.1068A>T (p.Leu356Phe)
 dbSNP gnomAD v2 gnomAD v4
5g.112835124dupCA006371APCc.1582dup (n.1582dup)
c.1971dup (p.Arg658ThrfsTer11)
c.*1923dup (n.*1923dup)
c.1863dup (p.Arg622ThrfsTer11)
c.1917dup (p.Arg640ThrfsTer11)
c.270dup
c.606dup (p.Arg203ThrfsTer11)
c.*1239dup (n.*1239dup)
c.230+6152dup
c.1947dup (p.Arg650ThrfsTer11)
c.1842dup (p.Arg615ThrfsTer11)
c.1833dup (p.Arg612ThrfsTer11)
c.1794dup (p.Arg599ThrfsTer11)
c.1740dup (p.Arg581ThrfsTer11)
c.1644dup (p.Arg549ThrfsTer11)
c.1614dup (p.Arg539ThrfsTer11)
c.1539dup (p.Arg514ThrfsTer11)
c.1437dup (p.Arg480ThrfsTer11)
c.1068dup (p.Arg357ThrfsTer11)
 ClinVar dbSNP
5g.112835125_112835128delCA645562821APCc.1583_1586del (n.1583_1586del)
c.1972_1975del (p.Arg658MetfsTer5)
c.*1924_*1927del (n.*1924_*1927del)
c.1864_1867del (p.Arg622MetfsTer5)
c.1918_1921del (p.Arg640MetfsTer5)
c.271_274del
c.607_610del (p.Arg203MetfsTer5)
c.*1240_*1243del (n.*1240_*1243del)
c.230+6153_230+6156del
c.1948_1951del (p.Arg650MetfsTer5)
c.1843_1846del (p.Arg615MetfsTer5)
c.1834_1837del (p.Arg612MetfsTer5)
c.1795_1798del (p.Arg599MetfsTer5)
c.1741_1744del (p.Arg581MetfsTer5)
c.1645_1648del (p.Arg549MetfsTer5)
c.1615_1618del (p.Arg539MetfsTer5)
c.1540_1543del (p.Arg514MetfsTer5)
c.1438_1441del (p.Arg480MetfsTer5)
c.1069_1072del (p.Arg357MetfsTer5)
 COSMIC
5g.112835125C>ACA445758925APCc.1583C>A (n.1583C>A)
c.1972C>A (p.Arg658=)
c.*1924C>A (n.*1924C>A)
c.1864C>A (p.Arg622=)
c.1918C>A (p.Arg640=)
c.271C>A
c.607C>A (p.Arg203=)
c.*1240C>A (n.*1240C>A)
c.230+6153C>A
c.1948C>A (p.Arg650=)
c.1843C>A (p.Arg615=)
c.1834C>A (p.Arg612=)
c.1795C>A (p.Arg599=)
c.1741C>A (p.Arg581=)
c.1645C>A (p.Arg549=)
c.1615C>A (p.Arg539=)
c.1540C>A (p.Arg514=)
c.1438C>A (p.Arg480=)
c.1069C>A (p.Arg357=)
 ClinVar dbSNP
5g.112835125C=CA1573471452APCc.1583C= (n.1583C=)
c.1972C= (p.Arg658=)
c.*1924C= (n.*1924C=)
c.1864C= (p.Arg622=)
c.1918C= (p.Arg640=)
c.271C=
c.607C= (p.Arg203=)
c.*1240C= (n.*1240C=)
c.230+6153C=
c.1948C= (p.Arg650=)
c.1843C= (p.Arg615=)
c.1834C= (p.Arg612=)
c.1795C= (p.Arg599=)
c.1741C= (p.Arg581=)
c.1645C= (p.Arg549=)
c.1615C= (p.Arg539=)
c.1540C= (p.Arg514=)
c.1438C= (p.Arg480=)
c.1069C= (p.Arg357=)
5g.112835125C>GCA16025508APCc.1583C>G (n.1583C>G)
c.1972C>G (p.Arg658Gly)
c.*1924C>G (n.*1924C>G)
c.1864C>G (p.Arg622Gly)
c.1918C>G (p.Arg640Gly)
c.271C>G
c.607C>G (p.Arg203Gly)
c.*1240C>G (n.*1240C>G)
c.230+6153C>G
c.1948C>G (p.Arg650Gly)
c.1843C>G (p.Arg615Gly)
c.1834C>G (p.Arg612Gly)
c.1795C>G (p.Arg599Gly)
c.1741C>G (p.Arg581Gly)
c.1645C>G (p.Arg549Gly)
c.1615C>G (p.Arg539Gly)
c.1540C>G (p.Arg514Gly)
c.1438C>G (p.Arg480Gly)
c.1069C>G (p.Arg357Gly)
 dbSNP
5g.112835125C>TCA16025509APCc.1583C>T (n.1583C>T)
c.1972C>T (p.Arg658Trp)
c.*1924C>T (n.*1924C>T)
c.1864C>T (p.Arg622Trp)
c.1918C>T (p.Arg640Trp)
c.271C>T
c.607C>T (p.Arg203Trp)
c.*1240C>T (n.*1240C>T)
c.230+6153C>T
c.1948C>T (p.Arg650Trp)
c.1843C>T (p.Arg615Trp)
c.1834C>T (p.Arg612Trp)
c.1795C>T (p.Arg599Trp)
c.1741C>T (p.Arg581Trp)
c.1645C>T (p.Arg549Trp)
c.1615C>T (p.Arg539Trp)
c.1540C>T (p.Arg514Trp)
c.1438C>T (p.Arg480Trp)
c.1069C>T (p.Arg357Trp)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.112835126G>ACA16025510APCc.1584G>A (n.1584G>A)
c.1973G>A (p.Arg658Gln)
c.*1925G>A (n.*1925G>A)
c.1865G>A (p.Arg622Gln)
c.1919G>A (p.Arg640Gln)
c.272G>A
c.608G>A (p.Arg203Gln)
c.*1241G>A (n.*1241G>A)
c.230+6154G>A
c.1949G>A (p.Arg650Gln)
c.1844G>A (p.Arg615Gln)
c.1835G>A (p.Arg612Gln)
c.1796G>A (p.Arg599Gln)
c.1742G>A (p.Arg581Gln)
c.1646G>A (p.Arg549Gln)
c.1616G>A (p.Arg539Gln)
c.1541G>A (p.Arg514Gln)
c.1439G>A (p.Arg480Gln)
c.1070G>A (p.Arg357Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112835126G>CCA16025511APCc.1584G>C (n.1584G>C)
c.1973G>C (p.Arg658Pro)
c.*1925G>C (n.*1925G>C)
c.1865G>C (p.Arg622Pro)
c.1919G>C (p.Arg640Pro)
c.272G>C
c.608G>C (p.Arg203Pro)
c.*1241G>C (n.*1241G>C)
c.230+6154G>C
c.1949G>C (p.Arg650Pro)
c.1844G>C (p.Arg615Pro)
c.1835G>C (p.Arg612Pro)
c.1796G>C (p.Arg599Pro)
c.1742G>C (p.Arg581Pro)
c.1646G>C (p.Arg549Pro)
c.1616G>C (p.Arg539Pro)
c.1541G>C (p.Arg514Pro)
c.1439G>C (p.Arg480Pro)
c.1070G>C (p.Arg357Pro)
 dbSNP
5g.112835126G=CA1573471456APCc.1584G= (n.1584G=)
c.1973G= (p.Arg658=)
c.*1925G= (n.*1925G=)
c.1865G= (p.Arg622=)
c.1919G= (p.Arg640=)
c.272G=
c.608G= (p.Arg203=)
c.*1241G= (n.*1241G=)
c.230+6154G=
c.1949G= (p.Arg650=)
c.1844G= (p.Arg615=)
c.1835G= (p.Arg612=)
c.1796G= (p.Arg599=)
c.1742G= (p.Arg581=)
c.1646G= (p.Arg549=)
c.1616G= (p.Arg539=)
c.1541G= (p.Arg514=)
c.1439G= (p.Arg480=)
c.1070G= (p.Arg357=)
5g.112835126G>TCA16025512APCc.1584G>T (n.1584G>T)
c.1973G>T (p.Arg658Leu)
c.*1925G>T (n.*1925G>T)
c.1865G>T (p.Arg622Leu)
c.1919G>T (p.Arg640Leu)
c.272G>T
c.608G>T (p.Arg203Leu)
c.*1241G>T (n.*1241G>T)
c.230+6154G>T
c.1949G>T (p.Arg650Leu)
c.1844G>T (p.Arg615Leu)
c.1835G>T (p.Arg612Leu)
c.1796G>T (p.Arg599Leu)
c.1742G>T (p.Arg581Leu)
c.1646G>T (p.Arg549Leu)
c.1616G>T (p.Arg539Leu)
c.1541G>T (p.Arg514Leu)
c.1439G>T (p.Arg480Leu)
c.1070G>T (p.Arg357Leu)
5g.112835127delCA445758926APCc.1585del (n.1585del)
c.1974del (p.Asn659MetfsTer5)
c.*1926del (n.*1926del)
c.1866del (p.Asn623MetfsTer5)
c.1920del (p.Asn641MetfsTer5)
c.273del
c.609del (p.Asn204MetfsTer5)
c.*1242del (n.*1242del)
c.230+6155del
c.1950del (p.Asn651MetfsTer5)
c.1845del (p.Asn616MetfsTer5)
c.1836del (p.Asn613MetfsTer5)
c.1797del (p.Asn600MetfsTer5)
c.1743del (p.Asn582MetfsTer5)
c.1647del (p.Asn550MetfsTer5)
c.1617del (p.Asn540MetfsTer5)
c.1542del (p.Asn515MetfsTer5)
c.1440del (p.Asn481MetfsTer5)
c.1071del (p.Asn358MetfsTer5)
 COSMIC
5g.112835127G>ACA445758927APCc.1585G>A (n.1585G>A)
c.1974G>A (p.Arg658=)
c.*1926G>A (n.*1926G>A)
c.1866G>A (p.Arg622=)
c.1920G>A (p.Arg640=)
c.273G>A
c.609G>A (p.Arg203=)
c.*1242G>A (n.*1242G>A)
c.230+6155G>A
c.1950G>A (p.Arg650=)
c.1845G>A (p.Arg615=)
c.1836G>A (p.Arg612=)
c.1797G>A (p.Arg599=)
c.1743G>A (p.Arg581=)
c.1647G>A (p.Arg549=)
c.1617G>A (p.Arg539=)
c.1542G>A (p.Arg514=)
c.1440G>A (p.Arg480=)
c.1071G>A (p.Arg357=)
 ClinVar dbSNP
5g.112835127G>CCA445758928APCc.1585G>C (n.1585G>C)
c.1974G>C (p.Arg658=)
c.*1926G>C (n.*1926G>C)
c.1866G>C (p.Arg622=)
c.1920G>C (p.Arg640=)
c.273G>C
c.609G>C (p.Arg203=)
c.*1242G>C (n.*1242G>C)
c.230+6155G>C
c.1950G>C (p.Arg650=)
c.1845G>C (p.Arg615=)
c.1836G>C (p.Arg612=)
c.1797G>C (p.Arg599=)
c.1743G>C (p.Arg581=)
c.1647G>C (p.Arg549=)
c.1617G>C (p.Arg539=)
c.1542G>C (p.Arg514=)
c.1440G>C (p.Arg480=)
c.1071G>C (p.Arg357=)
 dbSNP COSMIC
5g.112835127G>TCA445758929APCc.1585G>T (n.1585G>T)
c.1974G>T (p.Arg658=)
c.*1926G>T (n.*1926G>T)
c.1866G>T (p.Arg622=)
c.1920G>T (p.Arg640=)
c.273G>T
c.609G>T (p.Arg203=)
c.*1242G>T (n.*1242G>T)
c.230+6155G>T
c.1950G>T (p.Arg650=)
c.1845G>T (p.Arg615=)
c.1836G>T (p.Arg612=)
c.1797G>T (p.Arg599=)
c.1743G>T (p.Arg581=)
c.1647G>T (p.Arg549=)
c.1617G>T (p.Arg539=)
c.1542G>T (p.Arg514=)
c.1440G>T (p.Arg480=)
c.1071G>T (p.Arg357=)
 gnomAD v4
5g.112835128A>CCA16025513APCc.1586A>C (n.1586A>C)
c.1975A>C (p.Asn659His)
c.*1927A>C (n.*1927A>C)
c.1867A>C (p.Asn623His)
c.1921A>C (p.Asn641His)
c.274A>C
c.610A>C (p.Asn204His)
c.*1243A>C (n.*1243A>C)
c.230+6156A>C
c.1951A>C (p.Asn651His)
c.1846A>C (p.Asn616His)
c.1837A>C (p.Asn613His)
c.1798A>C (p.Asn600His)
c.1744A>C (p.Asn582His)
c.1648A>C (p.Asn550His)
c.1618A>C (p.Asn540His)
c.1543A>C (p.Asn515His)
c.1441A>C (p.Asn481His)
c.1072A>C (p.Asn358His)
5g.112835128A>GCA16025514APCc.1586A>G (n.1586A>G)
c.1975A>G (p.Asn659Asp)
c.*1927A>G (n.*1927A>G)
c.1867A>G (p.Asn623Asp)
c.1921A>G (p.Asn641Asp)
c.274A>G
c.610A>G (p.Asn204Asp)
c.*1243A>G (n.*1243A>G)
c.230+6156A>G
c.1951A>G (p.Asn651Asp)
c.1846A>G (p.Asn616Asp)
c.1837A>G (p.Asn613Asp)
c.1798A>G (p.Asn600Asp)
c.1744A>G (p.Asn582Asp)
c.1648A>G (p.Asn550Asp)
c.1618A>G (p.Asn540Asp)
c.1543A>G (p.Asn515Asp)
c.1441A>G (p.Asn481Asp)
c.1072A>G (p.Asn358Asp)
5g.112835128A>TCA16025515APCc.1586A>T (n.1586A>T)
c.1975A>T (p.Asn659Tyr)
c.*1927A>T (n.*1927A>T)
c.1867A>T (p.Asn623Tyr)
c.1921A>T (p.Asn641Tyr)
c.274A>T
c.610A>T (p.Asn204Tyr)
c.*1243A>T (n.*1243A>T)
c.230+6156A>T
c.1951A>T (p.Asn651Tyr)
c.1846A>T (p.Asn616Tyr)
c.1837A>T (p.Asn613Tyr)
c.1798A>T (p.Asn600Tyr)
c.1744A>T (p.Asn582Tyr)
c.1648A>T (p.Asn550Tyr)
c.1618A>T (p.Asn540Tyr)
c.1543A>T (p.Asn515Tyr)
c.1441A>T (p.Asn481Tyr)
c.1072A>T (p.Asn358Tyr)
 dbSNP
5g.112835129dupCA2695205052APCc.1587dup (n.1587dup)
c.1976dup (p.Asn659LysfsTer10)
c.*1928dup (n.*1928dup)
c.1868dup (p.Asn623LysfsTer10)
c.1922dup (p.Asn641LysfsTer10)
c.275dup
c.611dup (p.Asn204LysfsTer10)
c.*1244dup (n.*1244dup)
c.230+6157dup
c.1952dup (p.Asn651LysfsTer10)
c.1847dup (p.Asn616LysfsTer10)
c.1838dup (p.Asn613LysfsTer10)
c.1799dup (p.Asn600LysfsTer10)
c.1745dup (p.Asn582LysfsTer10)
c.1649dup (p.Asn550LysfsTer10)
c.1619dup (p.Asn540LysfsTer10)
c.1544dup (p.Asn515LysfsTer10)
c.1442dup (p.Asn481LysfsTer10)
c.1073dup (p.Asn358LysfsTer10)
5g.112835129A>CCA16025516APCc.1587A>C (n.1587A>C)
c.1976A>C (p.Asn659Thr)
c.*1928A>C (n.*1928A>C)
c.1868A>C (p.Asn623Thr)
c.1922A>C (p.Asn641Thr)
c.275A>C
c.611A>C (p.Asn204Thr)
c.*1244A>C (n.*1244A>C)
c.230+6157A>C
c.1952A>C (p.Asn651Thr)
c.1847A>C (p.Asn616Thr)
c.1838A>C (p.Asn613Thr)
c.1799A>C (p.Asn600Thr)
c.1745A>C (p.Asn582Thr)
c.1649A>C (p.Asn550Thr)
c.1619A>C (p.Asn540Thr)
c.1544A>C (p.Asn515Thr)
c.1442A>C (p.Asn481Thr)
c.1073A>C (p.Asn358Thr)
5g.112835129A>GCA16025517APCc.1587A>G (n.1587A>G)
c.1976A>G (p.Asn659Ser)
c.*1928A>G (n.*1928A>G)
c.1868A>G (p.Asn623Ser)
c.1922A>G (p.Asn641Ser)
c.275A>G
c.611A>G (p.Asn204Ser)
c.*1244A>G (n.*1244A>G)
c.230+6157A>G
c.1952A>G (p.Asn651Ser)
c.1847A>G (p.Asn616Ser)
c.1838A>G (p.Asn613Ser)
c.1799A>G (p.Asn600Ser)
c.1745A>G (p.Asn582Ser)
c.1649A>G (p.Asn550Ser)
c.1619A>G (p.Asn540Ser)
c.1544A>G (p.Asn515Ser)
c.1442A>G (p.Asn481Ser)
c.1073A>G (p.Asn358Ser)
5g.112835129A>TCA16025518APCc.1587A>T (n.1587A>T)
c.1976A>T (p.Asn659Ile)
c.*1928A>T (n.*1928A>T)
c.1868A>T (p.Asn623Ile)
c.1922A>T (p.Asn641Ile)
c.275A>T
c.611A>T (p.Asn204Ile)
c.*1244A>T (n.*1244A>T)
c.230+6157A>T
c.1952A>T (p.Asn651Ile)
c.1847A>T (p.Asn616Ile)
c.1838A>T (p.Asn613Ile)
c.1799A>T (p.Asn600Ile)
c.1745A>T (p.Asn582Ile)
c.1649A>T (p.Asn550Ile)
c.1619A>T (p.Asn540Ile)
c.1544A>T (p.Asn515Ile)
c.1442A>T (p.Asn481Ile)
c.1073A>T (p.Asn358Ile)
5g.112835130T>ACA16025519APCc.1588T>A (n.1588T>A)
c.1977T>A (p.Asn659Lys)
c.*1929T>A (n.*1929T>A)
c.1869T>A (p.Asn623Lys)
c.1923T>A (p.Asn641Lys)
c.276T>A
c.612T>A (p.Asn204Lys)
c.*1245T>A (n.*1245T>A)
c.230+6158T>A
c.1953T>A (p.Asn651Lys)
c.1848T>A (p.Asn616Lys)
c.1839T>A (p.Asn613Lys)
c.1800T>A (p.Asn600Lys)
c.1746T>A (p.Asn582Lys)
c.1650T>A (p.Asn550Lys)
c.1620T>A (p.Asn540Lys)
c.1545T>A (p.Asn515Lys)
c.1443T>A (p.Asn481Lys)
c.1074T>A (p.Asn358Lys)
 dbSNP
5g.112835130T>CCA445758930APCc.1588T>C (n.1588T>C)
c.1977T>C (p.Asn659=)
c.*1929T>C (n.*1929T>C)
c.1869T>C (p.Asn623=)
c.1923T>C (p.Asn641=)
c.276T>C
c.612T>C (p.Asn204=)
c.*1245T>C (n.*1245T>C)
c.230+6158T>C
c.1953T>C (p.Asn651=)
c.1848T>C (p.Asn616=)
c.1839T>C (p.Asn613=)
c.1800T>C (p.Asn600=)
c.1746T>C (p.Asn582=)
c.1650T>C (p.Asn550=)
c.1620T>C (p.Asn540=)
c.1545T>C (p.Asn515=)
c.1443T>C (p.Asn481=)
c.1074T>C (p.Asn358=)
 ClinVar dbSNP
5g.112835130T>GCA16025520APCc.1588T>G (n.1588T>G)
c.1977T>G (p.Asn659Lys)
c.*1929T>G (n.*1929T>G)
c.1869T>G (p.Asn623Lys)
c.1923T>G (p.Asn641Lys)
c.276T>G
c.612T>G (p.Asn204Lys)
c.*1245T>G (n.*1245T>G)
c.230+6158T>G
c.1953T>G (p.Asn651Lys)
c.1848T>G (p.Asn616Lys)
c.1839T>G (p.Asn613Lys)
c.1800T>G (p.Asn600Lys)
c.1746T>G (p.Asn582Lys)
c.1650T>G (p.Asn550Lys)
c.1620T>G (p.Asn540Lys)
c.1545T>G (p.Asn515Lys)
c.1443T>G (p.Asn481Lys)
c.1074T>G (p.Asn358Lys)
5g.112835130T=CA1573471464APCc.1588T= (n.1588T=)
c.1977T= (p.Asn659=)
c.*1929T= (n.*1929T=)
c.1869T= (p.Asn623=)
c.1923T= (p.Asn641=)
c.276T=
c.612T= (p.Asn204=)
c.*1245T= (n.*1245T=)
c.230+6158T=
c.1953T= (p.Asn651=)
c.1848T= (p.Asn616=)
c.1839T= (p.Asn613=)
c.1800T= (p.Asn600=)
c.1746T= (p.Asn582=)
c.1650T= (p.Asn550=)
c.1620T= (p.Asn540=)
c.1545T= (p.Asn515=)
c.1443T= (p.Asn481=)
c.1074T= (p.Asn358=)
5g.112835131G>ACA029894APCc.1589G>A (n.1589G>A)
c.1978G>A (p.Val660Met)
c.*1930G>A (n.*1930G>A)
c.1870G>A (p.Val624Met)
c.1924G>A (p.Val642Met)
c.277G>A
c.613G>A (p.Val205Met)
c.*1246G>A (n.*1246G>A)
c.230+6159G>A
c.1954G>A (p.Val652Met)
c.1849G>A (p.Val617Met)
c.1840G>A (p.Val614Met)
c.1801G>A (p.Val601Met)
c.1747G>A (p.Val583Met)
c.1651G>A (p.Val551Met)
c.1621G>A (p.Val541Met)
c.1546G>A (p.Val516Met)
c.1444G>A (p.Val482Met)
c.1075G>A (p.Val359Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112835131G>CCA16025521APCc.1589G>C (n.1589G>C)
c.1978G>C (p.Val660Leu)
c.*1930G>C (n.*1930G>C)
c.1870G>C (p.Val624Leu)
c.1924G>C (p.Val642Leu)
c.277G>C
c.613G>C (p.Val205Leu)
c.*1246G>C (n.*1246G>C)
c.230+6159G>C
c.1954G>C (p.Val652Leu)
c.1849G>C (p.Val617Leu)
c.1840G>C (p.Val614Leu)
c.1801G>C (p.Val601Leu)
c.1747G>C (p.Val583Leu)
c.1651G>C (p.Val551Leu)
c.1621G>C (p.Val541Leu)
c.1546G>C (p.Val516Leu)
c.1444G>C (p.Val482Leu)
c.1075G>C (p.Val359Leu)
 dbSNP gnomAD v4
5g.112835131G=CA1573471469APCc.1589G= (n.1589G=)
c.1978G= (p.Val660=)
c.*1930G= (n.*1930G=)
c.1870G= (p.Val624=)
c.1924G= (p.Val642=)
c.277G=
c.613G= (p.Val205=)
c.*1246G= (n.*1246G=)
c.230+6159G=
c.1954G= (p.Val652=)
c.1849G= (p.Val617=)
c.1840G= (p.Val614=)
c.1801G= (p.Val601=)
c.1747G= (p.Val583=)
c.1651G= (p.Val551=)
c.1621G= (p.Val541=)
c.1546G= (p.Val516=)
c.1444G= (p.Val482=)
c.1075G= (p.Val359=)
5g.112835131G>TCA16025522APCc.1589G>T (n.1589G>T)
c.1978G>T (p.Val660Leu)
c.*1930G>T (n.*1930G>T)
c.1870G>T (p.Val624Leu)
c.1924G>T (p.Val642Leu)
c.277G>T
c.613G>T (p.Val205Leu)
c.*1246G>T (n.*1246G>T)
c.230+6159G>T
c.1954G>T (p.Val652Leu)
c.1849G>T (p.Val617Leu)
c.1840G>T (p.Val614Leu)
c.1801G>T (p.Val601Leu)
c.1747G>T (p.Val583Leu)
c.1651G>T (p.Val551Leu)
c.1621G>T (p.Val541Leu)
c.1546G>T (p.Val516Leu)
c.1444G>T (p.Val482Leu)
c.1075G>T (p.Val359Leu)
 ClinVar
5g.112835132T>ACA16025523APCc.1590T>A (n.1590T>A)
c.1979T>A (p.Val660Glu)
c.*1931T>A (n.*1931T>A)
c.1871T>A (p.Val624Glu)
c.1925T>A (p.Val642Glu)
c.278T>A
c.614T>A (p.Val205Glu)
c.*1247T>A (n.*1247T>A)
c.230+6160T>A
c.1955T>A (p.Val652Glu)
c.1850T>A (p.Val617Glu)
c.1841T>A (p.Val614Glu)
c.1802T>A (p.Val601Glu)
c.1748T>A (p.Val583Glu)
c.1652T>A (p.Val551Glu)
c.1622T>A (p.Val541Glu)
c.1547T>A (p.Val516Glu)
c.1445T>A (p.Val482Glu)
c.1076T>A (p.Val359Glu)
 dbSNP
5g.112835132T>CCA029918APCc.1590T>C (n.1590T>C)
c.1979T>C (p.Val660Ala)
c.*1931T>C (n.*1931T>C)
c.1871T>C (p.Val624Ala)
c.1925T>C (p.Val642Ala)
c.278T>C
c.614T>C (p.Val205Ala)
c.*1247T>C (n.*1247T>C)
c.230+6160T>C
c.1955T>C (p.Val652Ala)
c.1850T>C (p.Val617Ala)
c.1841T>C (p.Val614Ala)
c.1802T>C (p.Val601Ala)
c.1748T>C (p.Val583Ala)
c.1652T>C (p.Val551Ala)
c.1622T>C (p.Val541Ala)
c.1547T>C (p.Val516Ala)
c.1445T>C (p.Val482Ala)
c.1076T>C (p.Val359Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112835132T>GCA16025524APCc.1590T>G (n.1590T>G)
c.1979T>G (p.Val660Gly)
c.*1931T>G (n.*1931T>G)
c.1871T>G (p.Val624Gly)
c.1925T>G (p.Val642Gly)
c.278T>G
c.614T>G (p.Val205Gly)
c.*1247T>G (n.*1247T>G)
c.230+6160T>G
c.1955T>G (p.Val652Gly)
c.1850T>G (p.Val617Gly)
c.1841T>G (p.Val614Gly)
c.1802T>G (p.Val601Gly)
c.1748T>G (p.Val583Gly)
c.1652T>G (p.Val551Gly)
c.1622T>G (p.Val541Gly)
c.1547T>G (p.Val516Gly)
c.1445T>G (p.Val482Gly)
c.1076T>G (p.Val359Gly)
 dbSNP
5g.112835132T=CA1573471473APCc.1590T= (n.1590T=)
c.1979T= (p.Val660=)
c.*1931T= (n.*1931T=)
c.1871T= (p.Val624=)
c.1925T= (p.Val642=)
c.278T=
c.614T= (p.Val205=)
c.*1247T= (n.*1247T=)
c.230+6160T=
c.1955T= (p.Val652=)
c.1850T= (p.Val617=)
c.1841T= (p.Val614=)
c.1802T= (p.Val601=)
c.1748T= (p.Val583=)
c.1652T= (p.Val551=)
c.1622T= (p.Val541=)
c.1547T= (p.Val516=)
c.1445T= (p.Val482=)
c.1076T= (p.Val359=)
5g.112835133G>ACA445758933APCc.1591G>A (n.1591G>A)
c.1980G>A (p.Val660=)
c.*1932G>A (n.*1932G>A)
c.1872G>A (p.Val624=)
c.1926G>A (p.Val642=)
c.279G>A
c.615G>A (p.Val205=)
c.*1248G>A (n.*1248G>A)
c.230+6161G>A
c.1956G>A (p.Val652=)
c.1851G>A (p.Val617=)
c.1842G>A (p.Val614=)
c.1803G>A (p.Val601=)
c.1749G>A (p.Val583=)
c.1653G>A (p.Val551=)
c.1623G>A (p.Val541=)
c.1548G>A (p.Val516=)
c.1446G>A (p.Val482=)
c.1077G>A (p.Val359=)
 ClinVar dbSNP
5g.112835133G>CCA445758931APCc.1591G>C (n.1591G>C)
c.1980G>C (p.Val660=)
c.*1932G>C (n.*1932G>C)
c.1872G>C (p.Val624=)
c.1926G>C (p.Val642=)
c.279G>C
c.615G>C (p.Val205=)
c.*1248G>C (n.*1248G>C)
c.230+6161G>C
c.1956G>C (p.Val652=)
c.1851G>C (p.Val617=)
c.1842G>C (p.Val614=)
c.1803G>C (p.Val601=)
c.1749G>C (p.Val583=)
c.1653G>C (p.Val551=)
c.1623G>C (p.Val541=)
c.1548G>C (p.Val516=)
c.1446G>C (p.Val482=)
c.1077G>C (p.Val359=)
 dbSNP
5g.112835133G=CA1573471483APCc.1591G= (n.1591G=)
c.1980G= (p.Val660=)
c.*1932G= (n.*1932G=)
c.1872G= (p.Val624=)
c.1926G= (p.Val642=)
c.279G=
c.615G= (p.Val205=)
c.*1248G= (n.*1248G=)
c.230+6161G=
c.1956G= (p.Val652=)
c.1851G= (p.Val617=)
c.1842G= (p.Val614=)
c.1803G= (p.Val601=)
c.1749G= (p.Val583=)
c.1653G= (p.Val551=)
c.1623G= (p.Val541=)
c.1548G= (p.Val516=)
c.1446G= (p.Val482=)
c.1077G= (p.Val359=)
5g.112835133G>TCA445758932APCc.1591G>T (n.1591G>T)
c.1980G>T (p.Val660=)
c.*1932G>T (n.*1932G>T)
c.1872G>T (p.Val624=)
c.1926G>T (p.Val642=)
c.279G>T
c.615G>T (p.Val205=)
c.*1248G>T (n.*1248G>T)
c.230+6161G>T
c.1956G>T (p.Val652=)
c.1851G>T (p.Val617=)
c.1842G>T (p.Val614=)
c.1803G>T (p.Val601=)
c.1749G>T (p.Val583=)
c.1653G>T (p.Val551=)
c.1623G>T (p.Val541=)
c.1548G>T (p.Val516=)
c.1446G>T (p.Val482=)
c.1077G>T (p.Val359=)
5g.112835133_112835142delinsAATCA645562822APCc.1591_1600delinsAAT (n.1591_1600delinsAAT)
c.1980_1989delinsAAT (p.Ser661IlefsTer2)
c.*1932_*1941delinsAAT (n.*1932_*1941delinsAAT)
c.1872_1881delinsAAT (p.Ser625IlefsTer2)
c.1926_1935delinsAAT (p.Ser643IlefsTer2)
c.279_288delinsAAT
c.615_624delinsAAT (p.Ser206IlefsTer2)
c.*1248_*1257delinsAAT (n.*1248_*1257delinsAAT)
c.230+6161_230+6170delinsAAT
c.1956_1965delinsAAT (p.Ser653IlefsTer2)
c.1851_1860delinsAAT (p.Ser618IlefsTer2)
c.1842_1851delinsAAT (p.Ser615IlefsTer2)
c.1803_1812delinsAAT (p.Ser602IlefsTer2)
c.1749_1758delinsAAT (p.Ser584IlefsTer2)
c.1653_1662delinsAAT (p.Ser552IlefsTer2)
c.1623_1632delinsAAT (p.Ser542IlefsTer2)
c.1548_1557delinsAAT (p.Ser517IlefsTer2)
c.1446_1455delinsAAT (p.Ser483IlefsTer2)
c.1077_1086delinsAAT (p.Ser360IlefsTer2)
 COSMIC
5g.112835134T>ACA16025525APCc.1592T>A (n.1592T>A)
c.1981T>A (p.Ser661Thr)
c.*1933T>A (n.*1933T>A)
c.1873T>A (p.Ser625Thr)
c.1927T>A (p.Ser643Thr)
c.280T>A
c.616T>A (p.Ser206Thr)
c.*1249T>A (n.*1249T>A)
c.230+6162T>A
c.1957T>A (p.Ser653Thr)
c.1852T>A (p.Ser618Thr)
c.1843T>A (p.Ser615Thr)
c.1804T>A (p.Ser602Thr)
c.1750T>A (p.Ser584Thr)
c.1654T>A (p.Ser552Thr)
c.1624T>A (p.Ser542Thr)
c.1549T>A (p.Ser517Thr)
c.1447T>A (p.Ser483Thr)
c.1078T>A (p.Ser360Thr)
5g.112835134T>CCA006416APCc.1592T>C (n.1592T>C)
c.1981T>C (p.Ser661Pro)
c.*1933T>C (n.*1933T>C)
c.1873T>C (p.Ser625Pro)
c.1927T>C (p.Ser643Pro)
c.280T>C
c.616T>C (p.Ser206Pro)
c.*1249T>C (n.*1249T>C)
c.230+6162T>C
c.1957T>C (p.Ser653Pro)
c.1852T>C (p.Ser618Pro)
c.1843T>C (p.Ser615Pro)
c.1804T>C (p.Ser602Pro)
c.1750T>C (p.Ser584Pro)
c.1654T>C (p.Ser552Pro)
c.1624T>C (p.Ser542Pro)
c.1549T>C (p.Ser517Pro)
c.1447T>C (p.Ser483Pro)
c.1078T>C (p.Ser360Pro)
 ClinVar dbSNP
5g.112835134T>GCA16025526APCc.1592T>G (n.1592T>G)
c.1981T>G (p.Ser661Ala)
c.*1933T>G (n.*1933T>G)
c.1873T>G (p.Ser625Ala)
c.1927T>G (p.Ser643Ala)
c.280T>G
c.616T>G (p.Ser206Ala)
c.*1249T>G (n.*1249T>G)
c.230+6162T>G
c.1957T>G (p.Ser653Ala)
c.1852T>G (p.Ser618Ala)
c.1843T>G (p.Ser615Ala)
c.1804T>G (p.Ser602Ala)
c.1750T>G (p.Ser584Ala)
c.1654T>G (p.Ser552Ala)
c.1624T>G (p.Ser542Ala)
c.1549T>G (p.Ser517Ala)
c.1447T>G (p.Ser483Ala)
c.1078T>G (p.Ser360Ala)
5g.112835134T=CA1573471493APCc.1592T= (n.1592T=)
c.1981T= (p.Ser661=)
c.*1933T= (n.*1933T=)
c.1873T= (p.Ser625=)
c.1927T= (p.Ser643=)
c.280T=
c.616T= (p.Ser206=)
c.*1249T= (n.*1249T=)
c.230+6162T=
c.1957T= (p.Ser653=)
c.1852T= (p.Ser618=)
c.1843T= (p.Ser615=)
c.1804T= (p.Ser602=)
c.1750T= (p.Ser584=)
c.1654T= (p.Ser552=)
c.1624T= (p.Ser542=)
c.1549T= (p.Ser517=)
c.1447T= (p.Ser483=)
c.1078T= (p.Ser360=)
5g.112835135_112835144delCA658760627APCc.1593_1602del (n.1593_1602del)
c.1982_1991del (p.Ser661Ter)
c.*1934_*1943del (n.*1934_*1943del)
c.1874_1883del (p.Ser625Ter)
c.1928_1937del (p.Ser643Ter)
c.281_290del
c.617_626del (p.Ser206Ter)
c.*1250_*1259del (n.*1250_*1259del)
c.230+6163_230+6172del
c.1958_1967del (p.Ser653Ter)
c.1853_1862del (p.Ser618Ter)
c.1844_1853del (p.Ser615Ter)
c.1805_1814del (p.Ser602Ter)
c.1751_1760del (p.Ser584Ter)
c.1655_1664del (p.Ser552Ter)
c.1625_1634del (p.Ser542Ter)
c.1550_1559del (p.Ser517Ter)
c.1448_1457del (p.Ser483Ter)
c.1079_1088del (p.Ser360Ter)
5g.112835135C>ACA16025527APCc.1593C>A (n.1593C>A)
c.1982C>A (p.Ser661Tyr)
c.*1934C>A (n.*1934C>A)
c.1874C>A (p.Ser625Tyr)
c.1928C>A (p.Ser643Tyr)
c.281C>A
c.617C>A (p.Ser206Tyr)
c.*1250C>A (n.*1250C>A)
c.230+6163C>A
c.1958C>A (p.Ser653Tyr)
c.1853C>A (p.Ser618Tyr)
c.1844C>A (p.Ser615Tyr)
c.1805C>A (p.Ser602Tyr)
c.1751C>A (p.Ser584Tyr)
c.1655C>A (p.Ser552Tyr)
c.1625C>A (p.Ser542Tyr)
c.1550C>A (p.Ser517Tyr)
c.1448C>A (p.Ser483Tyr)
c.1079C>A (p.Ser360Tyr)
 ClinVar
5g.112835135C=CA1573471504APCc.1593C= (n.1593C=)
c.1982C= (p.Ser661=)
c.*1934C= (n.*1934C=)
c.1874C= (p.Ser625=)
c.1928C= (p.Ser643=)
c.281C=
c.617C= (p.Ser206=)
c.*1250C= (n.*1250C=)
c.230+6163C=
c.1958C= (p.Ser653=)
c.1853C= (p.Ser618=)
c.1844C= (p.Ser615=)
c.1805C= (p.Ser602=)
c.1751C= (p.Ser584=)
c.1655C= (p.Ser552=)
c.1625C= (p.Ser542=)
c.1550C= (p.Ser517=)
c.1448C= (p.Ser483=)
c.1079C= (p.Ser360=)
5g.112835135C>GCA16025528APCc.1593C>G (n.1593C>G)
c.1982C>G (p.Ser661Cys)
c.*1934C>G (n.*1934C>G)
c.1874C>G (p.Ser625Cys)
c.1928C>G (p.Ser643Cys)
c.281C>G
c.617C>G (p.Ser206Cys)
c.*1250C>G (n.*1250C>G)
c.230+6163C>G
c.1958C>G (p.Ser653Cys)
c.1853C>G (p.Ser618Cys)
c.1844C>G (p.Ser615Cys)
c.1805C>G (p.Ser602Cys)
c.1751C>G (p.Ser584Cys)
c.1655C>G (p.Ser552Cys)
c.1625C>G (p.Ser542Cys)
c.1550C>G (p.Ser517Cys)
c.1448C>G (p.Ser483Cys)
c.1079C>G (p.Ser360Cys)
5g.112835135C>TCA16025529APCc.1593C>T (n.1593C>T)
c.1982C>T (p.Ser661Phe)
c.*1934C>T (n.*1934C>T)
c.1874C>T (p.Ser625Phe)
c.1928C>T (p.Ser643Phe)
c.281C>T
c.617C>T (p.Ser206Phe)
c.*1250C>T (n.*1250C>T)
c.230+6163C>T
c.1958C>T (p.Ser653Phe)
c.1853C>T (p.Ser618Phe)
c.1844C>T (p.Ser615Phe)
c.1805C>T (p.Ser602Phe)
c.1751C>T (p.Ser584Phe)
c.1655C>T (p.Ser552Phe)
c.1625C>T (p.Ser542Phe)
c.1550C>T (p.Ser517Phe)
c.1448C>T (p.Ser483Phe)
c.1079C>T (p.Ser360Phe)
 ClinVar dbSNP
5g.112835136C>ACA445758934APCc.1594C>A (n.1594C>A)
c.1983C>A (p.Ser661=)
c.*1935C>A (n.*1935C>A)
c.1875C>A (p.Ser625=)
c.1929C>A (p.Ser643=)
c.282C>A
c.618C>A (p.Ser206=)
c.*1251C>A (n.*1251C>A)
c.230+6164C>A
c.1959C>A (p.Ser653=)
c.1854C>A (p.Ser618=)
c.1845C>A (p.Ser615=)
c.1806C>A (p.Ser602=)
c.1752C>A (p.Ser584=)
c.1656C>A (p.Ser552=)
c.1626C>A (p.Ser542=)
c.1551C>A (p.Ser517=)
c.1449C>A (p.Ser483=)
c.1080C>A (p.Ser360=)
 dbSNP
5g.112835136C>GCA445758935APCc.1594C>G (n.1594C>G)
c.1983C>G (p.Ser661=)
c.*1935C>G (n.*1935C>G)
c.1875C>G (p.Ser625=)
c.1929C>G (p.Ser643=)
c.282C>G
c.618C>G (p.Ser206=)
c.*1251C>G (n.*1251C>G)
c.230+6164C>G
c.1959C>G (p.Ser653=)
c.1854C>G (p.Ser618=)
c.1845C>G (p.Ser615=)
c.1806C>G (p.Ser602=)
c.1752C>G (p.Ser584=)
c.1656C>G (p.Ser552=)
c.1626C>G (p.Ser542=)
c.1551C>G (p.Ser517=)
c.1449C>G (p.Ser483=)
c.1080C>G (p.Ser360=)
 dbSNP
5g.112835136C>TCA445758936APCc.1594C>T (n.1594C>T)
c.1983C>T (p.Ser661=)
c.*1935C>T (n.*1935C>T)
c.1875C>T (p.Ser625=)
c.1929C>T (p.Ser643=)
c.282C>T
c.618C>T (p.Ser206=)
c.*1251C>T (n.*1251C>T)
c.230+6164C>T
c.1959C>T (p.Ser653=)
c.1854C>T (p.Ser618=)
c.1845C>T (p.Ser615=)
c.1806C>T (p.Ser602=)
c.1752C>T (p.Ser584=)
c.1656C>T (p.Ser552=)
c.1626C>T (p.Ser542=)
c.1551C>T (p.Ser517=)
c.1449C>T (p.Ser483=)
c.1080C>T (p.Ser360=)
 ClinVar dbSNP
5g.112835137A=CA1573471511APCc.1595A= (n.1595A=)
c.1984A= (p.Ser662=)
c.*1936A= (n.*1936A=)
c.1876A= (p.Ser626=)
c.1930A= (p.Ser644=)
c.283A=
c.619A= (p.Ser207=)
c.*1252A= (n.*1252A=)
c.230+6165A=
c.1960A= (p.Ser654=)
c.1855A= (p.Ser619=)
c.1846A= (p.Ser616=)
c.1807A= (p.Ser603=)
c.1753A= (p.Ser585=)
c.1657A= (p.Ser553=)
c.1627A= (p.Ser543=)
c.1552A= (p.Ser518=)
c.1450A= (p.Ser484=)
c.1081A= (p.Ser361=)
5g.112835137A>CCA16025530APCc.1595A>C (n.1595A>C)
c.1984A>C (p.Ser662Arg)
c.*1936A>C (n.*1936A>C)
c.1876A>C (p.Ser626Arg)
c.1930A>C (p.Ser644Arg)
c.283A>C
c.619A>C (p.Ser207Arg)
c.*1252A>C (n.*1252A>C)
c.230+6165A>C
c.1960A>C (p.Ser654Arg)
c.1855A>C (p.Ser619Arg)
c.1846A>C (p.Ser616Arg)
c.1807A>C (p.Ser603Arg)
c.1753A>C (p.Ser585Arg)
c.1657A>C (p.Ser553Arg)
c.1627A>C (p.Ser543Arg)
c.1552A>C (p.Ser518Arg)
c.1450A>C (p.Ser484Arg)
c.1081A>C (p.Ser361Arg)
5g.112835137A>GCA16025531APCc.1595A>G (n.1595A>G)
c.1984A>G (p.Ser662Gly)
c.*1936A>G (n.*1936A>G)
c.1876A>G (p.Ser626Gly)
c.1930A>G (p.Ser644Gly)
c.283A>G
c.619A>G (p.Ser207Gly)
c.*1252A>G (n.*1252A>G)
c.230+6165A>G
c.1960A>G (p.Ser654Gly)
c.1855A>G (p.Ser619Gly)
c.1846A>G (p.Ser616Gly)
c.1807A>G (p.Ser603Gly)
c.1753A>G (p.Ser585Gly)
c.1657A>G (p.Ser553Gly)
c.1627A>G (p.Ser543Gly)
c.1552A>G (p.Ser518Gly)
c.1450A>G (p.Ser484Gly)
c.1081A>G (p.Ser361Gly)
 ClinVar dbSNP gnomAD v4
5g.112835137A>TCA16025532APCc.1595A>T (n.1595A>T)
c.1984A>T (p.Ser662Cys)
c.*1936A>T (n.*1936A>T)
c.1876A>T (p.Ser626Cys)
c.1930A>T (p.Ser644Cys)
c.283A>T
c.619A>T (p.Ser207Cys)
c.*1252A>T (n.*1252A>T)
c.230+6165A>T
c.1960A>T (p.Ser654Cys)
c.1855A>T (p.Ser619Cys)
c.1846A>T (p.Ser616Cys)
c.1807A>T (p.Ser603Cys)
c.1753A>T (p.Ser585Cys)
c.1657A>T (p.Ser553Cys)
c.1627A>T (p.Ser543Cys)
c.1552A>T (p.Ser518Cys)
c.1450A>T (p.Ser484Cys)
c.1081A>T (p.Ser361Cys)
 dbSNP
5g.112835138G>ACA16025533APCc.1596G>A (n.1596G>A)
c.1985G>A (p.Ser662Asn)
c.*1937G>A (n.*1937G>A)
c.1877G>A (p.Ser626Asn)
c.1931G>A (p.Ser644Asn)
c.284G>A
c.620G>A (p.Ser207Asn)
c.*1253G>A (n.*1253G>A)
c.230+6166G>A
c.1961G>A (p.Ser654Asn)
c.1856G>A (p.Ser619Asn)
c.1847G>A (p.Ser616Asn)
c.1808G>A (p.Ser603Asn)
c.1754G>A (p.Ser585Asn)
c.1658G>A (p.Ser553Asn)
c.1628G>A (p.Ser543Asn)
c.1553G>A (p.Ser518Asn)
c.1451G>A (p.Ser484Asn)
c.1082G>A (p.Ser361Asn)
 dbSNP
5g.112835138G>CCA16025534APCc.1596G>C (n.1596G>C)
c.1985G>C (p.Ser662Thr)
c.*1937G>C (n.*1937G>C)
c.1877G>C (p.Ser626Thr)
c.1931G>C (p.Ser644Thr)
c.284G>C
c.620G>C (p.Ser207Thr)
c.*1253G>C (n.*1253G>C)
c.230+6166G>C
c.1961G>C (p.Ser654Thr)
c.1856G>C (p.Ser619Thr)
c.1847G>C (p.Ser616Thr)
c.1808G>C (p.Ser603Thr)
c.1754G>C (p.Ser585Thr)
c.1658G>C (p.Ser553Thr)
c.1628G>C (p.Ser543Thr)
c.1553G>C (p.Ser518Thr)
c.1451G>C (p.Ser484Thr)
c.1082G>C (p.Ser361Thr)
 ClinVar dbSNP gnomAD v4
5g.112835138G=CA1573471518APCc.1596G= (n.1596G=)
c.1985G= (p.Ser662=)
c.*1937G= (n.*1937G=)
c.1877G= (p.Ser626=)
c.1931G= (p.Ser644=)
c.284G=
c.620G= (p.Ser207=)
c.*1253G= (n.*1253G=)
c.230+6166G=
c.1961G= (p.Ser654=)
c.1856G= (p.Ser619=)
c.1847G= (p.Ser616=)
c.1808G= (p.Ser603=)
c.1754G= (p.Ser585=)
c.1658G= (p.Ser553=)
c.1628G= (p.Ser543=)
c.1553G= (p.Ser518=)
c.1451G= (p.Ser484=)
c.1082G= (p.Ser361=)
5g.112835138G>TCA16025535APCc.1596G>T (n.1596G>T)
c.1985G>T (p.Ser662Ile)
c.*1937G>T (n.*1937G>T)
c.1877G>T (p.Ser626Ile)
c.1931G>T (p.Ser644Ile)
c.284G>T
c.620G>T (p.Ser207Ile)
c.*1253G>T (n.*1253G>T)
c.230+6166G>T
c.1961G>T (p.Ser654Ile)
c.1856G>T (p.Ser619Ile)
c.1847G>T (p.Ser616Ile)
c.1808G>T (p.Ser603Ile)
c.1754G>T (p.Ser585Ile)
c.1658G>T (p.Ser553Ile)
c.1628G>T (p.Ser543Ile)
c.1553G>T (p.Ser518Ile)
c.1451G>T (p.Ser484Ile)
c.1082G>T (p.Ser361Ile)
5g.112835139C>ACA16025536APCc.1597C>A (n.1597C>A)
c.1986C>A (p.Ser662Arg)
c.*1938C>A (n.*1938C>A)
c.1878C>A (p.Ser626Arg)
c.1932C>A (p.Ser644Arg)
c.285C>A
c.621C>A (p.Ser207Arg)
c.*1254C>A (n.*1254C>A)
c.230+6167C>A
c.1962C>A (p.Ser654Arg)
c.1857C>A (p.Ser619Arg)
c.1848C>A (p.Ser616Arg)
c.1809C>A (p.Ser603Arg)
c.1755C>A (p.Ser585Arg)
c.1659C>A (p.Ser553Arg)
c.1629C>A (p.Ser543Arg)
c.1554C>A (p.Ser518Arg)
c.1452C>A (p.Ser484Arg)
c.1083C>A (p.Ser361Arg)
 dbSNP
5g.112835139C>GCA16025537APCc.1597C>G (n.1597C>G)
c.1986C>G (p.Ser662Arg)
c.*1938C>G (n.*1938C>G)
c.1878C>G (p.Ser626Arg)
c.1932C>G (p.Ser644Arg)
c.285C>G
c.621C>G (p.Ser207Arg)
c.*1254C>G (n.*1254C>G)
c.230+6167C>G
c.1962C>G (p.Ser654Arg)
c.1857C>G (p.Ser619Arg)
c.1848C>G (p.Ser616Arg)
c.1809C>G (p.Ser603Arg)
c.1755C>G (p.Ser585Arg)
c.1659C>G (p.Ser553Arg)
c.1629C>G (p.Ser543Arg)
c.1554C>G (p.Ser518Arg)
c.1452C>G (p.Ser484Arg)
c.1083C>G (p.Ser361Arg)
 dbSNP
5g.112835139C>TCA445758937APCc.1597C>T (n.1597C>T)
c.1986C>T (p.Ser662=)
c.*1938C>T (n.*1938C>T)
c.1878C>T (p.Ser626=)
c.1932C>T (p.Ser644=)
c.285C>T
c.621C>T (p.Ser207=)
c.*1254C>T (n.*1254C>T)
c.230+6167C>T
c.1962C>T (p.Ser654=)
c.1857C>T (p.Ser619=)
c.1848C>T (p.Ser616=)
c.1809C>T (p.Ser603=)
c.1755C>T (p.Ser585=)
c.1659C>T (p.Ser553=)
c.1629C>T (p.Ser543=)
c.1554C>T (p.Ser518=)
c.1452C>T (p.Ser484=)
c.1083C>T (p.Ser361=)
 dbSNP
5g.112835139_112835140dupCA2695205053APCc.1597_1598dup (n.1597_1598dup)
c.1986_1987dup (p.Leu663SerfsTer2)
c.*1938_*1939dup (n.*1938_*1939dup)
c.1878_1879dup (p.Leu627SerfsTer2)
c.1932_1933dup (p.Leu645SerfsTer2)
c.285_286dup
c.621_622dup (p.Leu208SerfsTer2)
c.*1254_*1255dup (n.*1254_*1255dup)
c.230+6167_230+6168dup
c.1962_1963dup (p.Leu655SerfsTer2)
c.1857_1858dup (p.Leu620SerfsTer2)
c.1848_1849dup (p.Leu617SerfsTer2)
c.1809_1810dup (p.Leu604SerfsTer2)
c.1755_1756dup (p.Leu586SerfsTer2)
c.1659_1660dup (p.Leu554SerfsTer2)
c.1629_1630dup (p.Leu544SerfsTer2)
c.1554_1555dup (p.Leu519SerfsTer2)
c.1452_1453dup (p.Leu485SerfsTer2)
c.1083_1084dup (p.Leu362SerfsTer2)
5g.112835140T>ACA16025538APCc.1598T>A (n.1598T>A)
c.1987T>A (p.Leu663Met)
c.*1939T>A (n.*1939T>A)
c.1879T>A (p.Leu627Met)
c.1933T>A (p.Leu645Met)
c.286T>A
c.622T>A (p.Leu208Met)
c.*1255T>A (n.*1255T>A)
c.230+6168T>A
c.1963T>A (p.Leu655Met)
c.1858T>A (p.Leu620Met)
c.1849T>A (p.Leu617Met)
c.1810T>A (p.Leu604Met)
c.1756T>A (p.Leu586Met)
c.1660T>A (p.Leu554Met)
c.1630T>A (p.Leu544Met)
c.1555T>A (p.Leu519Met)
c.1453T>A (p.Leu485Met)
c.1084T>A (p.Leu362Met)
 dbSNP
5g.112835140T>CCA445758938APCc.1598T>C (n.1598T>C)
c.1987T>C (p.Leu663=)
c.*1939T>C (n.*1939T>C)
c.1879T>C (p.Leu627=)
c.1933T>C (p.Leu645=)
c.286T>C
c.622T>C (p.Leu208=)
c.*1255T>C (n.*1255T>C)
c.230+6168T>C
c.1963T>C (p.Leu655=)
c.1858T>C (p.Leu620=)
c.1849T>C (p.Leu617=)
c.1810T>C (p.Leu604=)
c.1756T>C (p.Leu586=)
c.1660T>C (p.Leu554=)
c.1630T>C (p.Leu544=)
c.1555T>C (p.Leu519=)
c.1453T>C (p.Leu485=)
c.1084T>C (p.Leu362=)
5g.112835140T>GCA16025539APCc.1598T>G (n.1598T>G)
c.1987T>G (p.Leu663Val)
c.*1939T>G (n.*1939T>G)
c.1879T>G (p.Leu627Val)
c.1933T>G (p.Leu645Val)
c.286T>G
c.622T>G (p.Leu208Val)
c.*1255T>G (n.*1255T>G)
c.230+6168T>G
c.1963T>G (p.Leu655Val)
c.1858T>G (p.Leu620Val)
c.1849T>G (p.Leu617Val)
c.1810T>G (p.Leu604Val)
c.1756T>G (p.Leu586Val)
c.1660T>G (p.Leu554Val)
c.1630T>G (p.Leu544Val)
c.1555T>G (p.Leu519Val)
c.1453T>G (p.Leu485Val)
c.1084T>G (p.Leu362Val)
5g.112835141T>ACA16025540APCc.1599T>A (n.1599T>A)
c.1988T>A (p.Leu663Ter)
c.*1940T>A (n.*1940T>A)
c.1880T>A (p.Leu627Ter)
c.1934T>A (p.Leu645Ter)
c.287T>A
c.623T>A (p.Leu208Ter)
c.*1256T>A (n.*1256T>A)
c.230+6169T>A
c.1964T>A (p.Leu655Ter)
c.1859T>A (p.Leu620Ter)
c.1850T>A (p.Leu617Ter)
c.1811T>A (p.Leu604Ter)
c.1757T>A (p.Leu586Ter)
c.1661T>A (p.Leu554Ter)
c.1631T>A (p.Leu544Ter)
c.1556T>A (p.Leu519Ter)
c.1454T>A (p.Leu485Ter)
c.1085T>A (p.Leu362Ter)
5g.112835141T>CCA16025541APCc.1599T>C (n.1599T>C)
c.1988T>C (p.Leu663Ser)
c.*1940T>C (n.*1940T>C)
c.1880T>C (p.Leu627Ser)
c.1934T>C (p.Leu645Ser)
c.287T>C
c.623T>C (p.Leu208Ser)
c.*1256T>C (n.*1256T>C)
c.230+6169T>C
c.1964T>C (p.Leu655Ser)
c.1859T>C (p.Leu620Ser)
c.1850T>C (p.Leu617Ser)
c.1811T>C (p.Leu604Ser)
c.1757T>C (p.Leu586Ser)
c.1661T>C (p.Leu554Ser)
c.1631T>C (p.Leu544Ser)
c.1556T>C (p.Leu519Ser)
c.1454T>C (p.Leu485Ser)
c.1085T>C (p.Leu362Ser)
5g.112835141T>GCA16025542APCc.1599T>G (n.1599T>G)
c.1988T>G (p.Leu663Trp)
c.*1940T>G (n.*1940T>G)
c.1880T>G (p.Leu627Trp)
c.1934T>G (p.Leu645Trp)
c.287T>G
c.623T>G (p.Leu208Trp)
c.*1256T>G (n.*1256T>G)
c.230+6169T>G
c.1964T>G (p.Leu655Trp)
c.1859T>G (p.Leu620Trp)
c.1850T>G (p.Leu617Trp)
c.1811T>G (p.Leu604Trp)
c.1757T>G (p.Leu586Trp)
c.1661T>G (p.Leu554Trp)
c.1631T>G (p.Leu544Trp)
c.1556T>G (p.Leu519Trp)
c.1454T>G (p.Leu485Trp)
c.1085T>G (p.Leu362Trp)
5g.112835142G>ACA445758939APCc.1600G>A (n.1600G>A)
c.1989G>A (p.Leu663=)
c.*1941G>A (n.*1941G>A)
c.1881G>A (p.Leu627=)
c.1935G>A (p.Leu645=)
c.288G>A
c.624G>A (p.Leu208=)
c.*1257G>A (n.*1257G>A)
c.230+6170G>A
c.1965G>A (p.Leu655=)
c.1860G>A (p.Leu620=)
c.1851G>A (p.Leu617=)
c.1812G>A (p.Leu604=)
c.1758G>A (p.Leu586=)
c.1662G>A (p.Leu554=)
c.1632G>A (p.Leu544=)
c.1557G>A (p.Leu519=)
c.1455G>A (p.Leu485=)
c.1086G>A (p.Leu362=)
 dbSNP
5g.112835142G>CCA16025543APCc.1600G>C (n.1600G>C)
c.1989G>C (p.Leu663Phe)
c.*1941G>C (n.*1941G>C)
c.1881G>C (p.Leu627Phe)
c.1935G>C (p.Leu645Phe)
c.288G>C
c.624G>C (p.Leu208Phe)
c.*1257G>C (n.*1257G>C)
c.230+6170G>C
c.1965G>C (p.Leu655Phe)
c.1860G>C (p.Leu620Phe)
c.1851G>C (p.Leu617Phe)
c.1812G>C (p.Leu604Phe)
c.1758G>C (p.Leu586Phe)
c.1662G>C (p.Leu554Phe)
c.1632G>C (p.Leu544Phe)
c.1557G>C (p.Leu519Phe)
c.1455G>C (p.Leu485Phe)
c.1086G>C (p.Leu362Phe)
 dbSNP
5g.112835142G>TCA16025544APCc.1600G>T (n.1600G>T)
c.1989G>T (p.Leu663Phe)
c.*1941G>T (n.*1941G>T)
c.1881G>T (p.Leu627Phe)
c.1935G>T (p.Leu645Phe)
c.288G>T
c.624G>T (p.Leu208Phe)
c.*1257G>T (n.*1257G>T)
c.230+6170G>T
c.1965G>T (p.Leu655Phe)
c.1860G>T (p.Leu620Phe)
c.1851G>T (p.Leu617Phe)
c.1812G>T (p.Leu604Phe)
c.1758G>T (p.Leu586Phe)
c.1662G>T (p.Leu554Phe)
c.1632G>T (p.Leu544Phe)
c.1557G>T (p.Leu519Phe)
c.1455G>T (p.Leu485Phe)
c.1086G>T (p.Leu362Phe)
5g.112835143A=CA1573471543APCc.1601A= (n.1601A=)
c.1990A= (p.Ile664=)
c.*1942A= (n.*1942A=)
c.1882A= (p.Ile628=)
c.1936A= (p.Ile646=)
c.289A=
c.625A= (p.Ile209=)
c.*1258A= (n.*1258A=)
c.230+6171A=
c.1966A= (p.Ile656=)
c.1861A= (p.Ile621=)
c.1852A= (p.Ile618=)
c.1813A= (p.Ile605=)
c.1759A= (p.Ile587=)
c.1663A= (p.Ile555=)
c.1633A= (p.Ile545=)
c.1558A= (p.Ile520=)
c.1456A= (p.Ile486=)
c.1087A= (p.Ile363=)
5g.112835143A>CCA16025545APCc.1601A>C (n.1601A>C)
c.1990A>C (p.Ile664Leu)
c.*1942A>C (n.*1942A>C)
c.1882A>C (p.Ile628Leu)
c.1936A>C (p.Ile646Leu)
c.289A>C
c.625A>C (p.Ile209Leu)
c.*1258A>C (n.*1258A>C)
c.230+6171A>C
c.1966A>C (p.Ile656Leu)
c.1861A>C (p.Ile621Leu)
c.1852A>C (p.Ile618Leu)
c.1813A>C (p.Ile605Leu)
c.1759A>C (p.Ile587Leu)
c.1663A>C (p.Ile555Leu)
c.1633A>C (p.Ile545Leu)
c.1558A>C (p.Ile520Leu)
c.1456A>C (p.Ile486Leu)
c.1087A>C (p.Ile363Leu)
 dbSNP gnomAD v4
5g.112835143A>GCA16025546APCc.1601A>G (n.1601A>G)
c.1990A>G (p.Ile664Val)
c.*1942A>G (n.*1942A>G)
c.1882A>G (p.Ile628Val)
c.1936A>G (p.Ile646Val)
c.289A>G
c.625A>G (p.Ile209Val)
c.*1258A>G (n.*1258A>G)
c.230+6171A>G
c.1966A>G (p.Ile656Val)
c.1861A>G (p.Ile621Val)
c.1852A>G (p.Ile618Val)
c.1813A>G (p.Ile605Val)
c.1759A>G (p.Ile587Val)
c.1663A>G (p.Ile555Val)
c.1633A>G (p.Ile545Val)
c.1558A>G (p.Ile520Val)
c.1456A>G (p.Ile486Val)
c.1087A>G (p.Ile363Val)
 ClinVar dbSNP gnomAD v4
5g.112835143A>TCA16025547APCc.1601A>T (n.1601A>T)
c.1990A>T (p.Ile664Leu)
c.*1942A>T (n.*1942A>T)
c.1882A>T (p.Ile628Leu)
c.1936A>T (p.Ile646Leu)
c.289A>T
c.625A>T (p.Ile209Leu)
c.*1258A>T (n.*1258A>T)
c.230+6171A>T
c.1966A>T (p.Ile656Leu)
c.1861A>T (p.Ile621Leu)
c.1852A>T (p.Ile618Leu)
c.1813A>T (p.Ile605Leu)
c.1759A>T (p.Ile587Leu)
c.1663A>T (p.Ile555Leu)
c.1633A>T (p.Ile545Leu)
c.1558A>T (p.Ile520Leu)
c.1456A>T (p.Ile486Leu)
c.1087A>T (p.Ile363Leu)
 dbSNP
5g.112835144T>ACA16025548APCc.1602T>A (n.1602T>A)
c.1991T>A (p.Ile664Lys)
c.*1943T>A (n.*1943T>A)
c.1883T>A (p.Ile628Lys)
c.1937T>A (p.Ile646Lys)
c.290T>A
c.626T>A (p.Ile209Lys)
c.*1259T>A (n.*1259T>A)
c.230+6172T>A
c.1967T>A (p.Ile656Lys)
c.1862T>A (p.Ile621Lys)
c.1853T>A (p.Ile618Lys)
c.1814T>A (p.Ile605Lys)
c.1760T>A (p.Ile587Lys)
c.1664T>A (p.Ile555Lys)
c.1634T>A (p.Ile545Lys)
c.1559T>A (p.Ile520Lys)
c.1457T>A (p.Ile486Lys)
c.1088T>A (p.Ile363Lys)
 dbSNP
5g.112835144T>CCA16025549APCc.1602T>C (n.1602T>C)
c.1991T>C (p.Ile664Thr)
c.*1943T>C (n.*1943T>C)
c.1883T>C (p.Ile628Thr)
c.1937T>C (p.Ile646Thr)
c.290T>C
c.626T>C (p.Ile209Thr)
c.*1259T>C (n.*1259T>C)
c.230+6172T>C
c.1967T>C (p.Ile656Thr)
c.1862T>C (p.Ile621Thr)
c.1853T>C (p.Ile618Thr)
c.1814T>C (p.Ile605Thr)
c.1760T>C (p.Ile587Thr)
c.1664T>C (p.Ile555Thr)
c.1634T>C (p.Ile545Thr)
c.1559T>C (p.Ile520Thr)
c.1457T>C (p.Ile486Thr)
c.1088T>C (p.Ile363Thr)
5g.112835144T>GCA16025550APCc.1602T>G (n.1602T>G)
c.1991T>G (p.Ile664Arg)
c.*1943T>G (n.*1943T>G)
c.1883T>G (p.Ile628Arg)
c.1937T>G (p.Ile646Arg)
c.290T>G
c.626T>G (p.Ile209Arg)
c.*1259T>G (n.*1259T>G)
c.230+6172T>G
c.1967T>G (p.Ile656Arg)
c.1862T>G (p.Ile621Arg)
c.1853T>G (p.Ile618Arg)
c.1814T>G (p.Ile605Arg)
c.1760T>G (p.Ile587Arg)
c.1664T>G (p.Ile555Arg)
c.1634T>G (p.Ile545Arg)
c.1559T>G (p.Ile520Arg)
c.1457T>G (p.Ile486Arg)
c.1088T>G (p.Ile363Arg)
 ClinVar dbSNP
5g.112835144T=CA1573471550APCc.1602T= (n.1602T=)
c.1991T= (p.Ile664=)
c.*1943T= (n.*1943T=)
c.1883T= (p.Ile628=)
c.1937T= (p.Ile646=)
c.290T=
c.626T= (p.Ile209=)
c.*1259T= (n.*1259T=)
c.230+6172T=
c.1967T= (p.Ile656=)
c.1862T= (p.Ile621=)
c.1853T= (p.Ile618=)
c.1814T= (p.Ile605=)
c.1760T= (p.Ile587=)
c.1664T= (p.Ile555=)
c.1634T= (p.Ile545=)
c.1559T= (p.Ile520=)
c.1457T= (p.Ile486=)
c.1088T= (p.Ile363=)
5g.112835145A>CCA445758940APCc.1603A>C (n.1603A>C)
c.1992A>C (p.Ile664=)
c.*1944A>C (n.*1944A>C)
c.1884A>C (p.Ile628=)
c.1938A>C (p.Ile646=)
c.291A>C
c.627A>C (p.Ile209=)
c.*1260A>C (n.*1260A>C)
c.230+6173A>C
c.1968A>C (p.Ile656=)
c.1863A>C (p.Ile621=)
c.1854A>C (p.Ile618=)
c.1815A>C (p.Ile605=)
c.1761A>C (p.Ile587=)
c.1665A>C (p.Ile555=)
c.1635A>C (p.Ile545=)
c.1560A>C (p.Ile520=)
c.1458A>C (p.Ile486=)
c.1089A>C (p.Ile363=)
5g.112835145A>GCA16025551APCc.1603A>G (n.1603A>G)
c.1992A>G (p.Ile664Met)
c.*1944A>G (n.*1944A>G)
c.1884A>G (p.Ile628Met)
c.1938A>G (p.Ile646Met)
c.291A>G
c.627A>G (p.Ile209Met)
c.*1260A>G (n.*1260A>G)
c.230+6173A>G
c.1968A>G (p.Ile656Met)
c.1863A>G (p.Ile621Met)
c.1854A>G (p.Ile618Met)
c.1815A>G (p.Ile605Met)
c.1761A>G (p.Ile587Met)
c.1665A>G (p.Ile555Met)
c.1635A>G (p.Ile545Met)
c.1560A>G (p.Ile520Met)
c.1458A>G (p.Ile486Met)
c.1089A>G (p.Ile363Met)
5g.112835145A>TCA445758941APCc.1603A>T (n.1603A>T)
c.1992A>T (p.Ile664=)
c.*1944A>T (n.*1944A>T)
c.1884A>T (p.Ile628=)
c.1938A>T (p.Ile646=)
c.291A>T
c.627A>T (p.Ile209=)
c.*1260A>T (n.*1260A>T)
c.230+6173A>T
c.1968A>T (p.Ile656=)
c.1863A>T (p.Ile621=)
c.1854A>T (p.Ile618=)
c.1815A>T (p.Ile605=)
c.1761A>T (p.Ile587=)
c.1665A>T (p.Ile555=)
c.1635A>T (p.Ile545=)
c.1560A>T (p.Ile520=)
c.1458A>T (p.Ile486=)
c.1089A>T (p.Ile363=)
 dbSNP
5g.112835145_112835146delinsCCA658760629APCc.1603_1604delinsC (n.1603_1604delinsC)
c.1992_1993delinsC (p.Ala665LeufsTer10)
c.*1944_*1945delinsC (n.*1944_*1945delinsC)
c.1884_1885delinsC (p.Ala629LeufsTer10)
c.1938_1939delinsC (p.Ala647LeufsTer10)
c.291_292delinsC
c.627_628delinsC (p.Ala210LeufsTer10)
c.*1260_*1261delinsC (n.*1260_*1261delinsC)
c.230+6173_230+6174delinsC
c.1968_1969delinsC (p.Ala657LeufsTer10)
c.1863_1864delinsC (p.Ala622LeufsTer10)
c.1854_1855delinsC (p.Ala619LeufsTer10)
c.1815_1816delinsC (p.Ala606LeufsTer10)
c.1761_1762delinsC (p.Ala588LeufsTer10)
c.1665_1666delinsC (p.Ala556LeufsTer10)
c.1635_1636delinsC (p.Ala546LeufsTer10)
c.1560_1561delinsC (p.Ala521LeufsTer10)
c.1458_1459delinsC (p.Ala487LeufsTer10)
c.1089_1090delinsC (p.Ala364LeufsTer10)
5g.112835146G>ACA16025552APCc.1604G>A (n.1604G>A)
c.1993G>A (p.Ala665Thr)
c.*1945G>A (n.*1945G>A)
c.1885G>A (p.Ala629Thr)
c.1939G>A (p.Ala647Thr)
c.292G>A
c.628G>A (p.Ala210Thr)
c.*1261G>A (n.*1261G>A)
c.230+6174G>A
c.1969G>A (p.Ala657Thr)
c.1864G>A (p.Ala622Thr)
c.1855G>A (p.Ala619Thr)
c.1816G>A (p.Ala606Thr)
c.1762G>A (p.Ala588Thr)
c.1666G>A (p.Ala556Thr)
c.1636G>A (p.Ala546Thr)
c.1561G>A (p.Ala521Thr)
c.1459G>A (p.Ala487Thr)
c.1090G>A (p.Ala364Thr)
 dbSNP
5g.112835146G>CCA16025553APCc.1604G>C (n.1604G>C)
c.1993G>C (p.Ala665Pro)
c.*1945G>C (n.*1945G>C)
c.1885G>C (p.Ala629Pro)
c.1939G>C (p.Ala647Pro)
c.292G>C
c.628G>C (p.Ala210Pro)
c.*1261G>C (n.*1261G>C)
c.230+6174G>C
c.1969G>C (p.Ala657Pro)
c.1864G>C (p.Ala622Pro)
c.1855G>C (p.Ala619Pro)
c.1816G>C (p.Ala606Pro)
c.1762G>C (p.Ala588Pro)
c.1666G>C (p.Ala556Pro)
c.1636G>C (p.Ala546Pro)
c.1561G>C (p.Ala521Pro)
c.1459G>C (p.Ala487Pro)
c.1090G>C (p.Ala364Pro)
 ClinVar dbSNP
5g.112835146G>TCA16025554APCc.1604G>T (n.1604G>T)
c.1993G>T (p.Ala665Ser)
c.*1945G>T (n.*1945G>T)
c.1885G>T (p.Ala629Ser)
c.1939G>T (p.Ala647Ser)
c.292G>T
c.628G>T (p.Ala210Ser)
c.*1261G>T (n.*1261G>T)
c.230+6174G>T
c.1969G>T (p.Ala657Ser)
c.1864G>T (p.Ala622Ser)
c.1855G>T (p.Ala619Ser)
c.1816G>T (p.Ala606Ser)
c.1762G>T (p.Ala588Ser)
c.1666G>T (p.Ala556Ser)
c.1636G>T (p.Ala546Ser)
c.1561G>T (p.Ala521Ser)
c.1459G>T (p.Ala487Ser)
c.1090G>T (p.Ala364Ser)
 dbSNP
5g.112835147C>ACA16025555APCc.1605C>A (n.1605C>A)
c.1994C>A (p.Ala665Asp)
c.*1946C>A (n.*1946C>A)
c.1886C>A (p.Ala629Asp)
c.1940C>A (p.Ala647Asp)
c.293C>A
c.629C>A (p.Ala210Asp)
c.*1262C>A (n.*1262C>A)
c.230+6175C>A
c.1970C>A (p.Ala657Asp)
c.1865C>A (p.Ala622Asp)
c.1856C>A (p.Ala619Asp)
c.1817C>A (p.Ala606Asp)
c.1763C>A (p.Ala588Asp)
c.1667C>A (p.Ala556Asp)
c.1637C>A (p.Ala546Asp)
c.1562C>A (p.Ala521Asp)
c.1460C>A (p.Ala487Asp)
c.1091C>A (p.Ala364Asp)
 dbSNP
5g.112835147C>GCA16025556APCc.1605C>G (n.1605C>G)
c.1994C>G (p.Ala665Gly)
c.*1946C>G (n.*1946C>G)
c.1886C>G (p.Ala629Gly)
c.1940C>G (p.Ala647Gly)
c.293C>G
c.629C>G (p.Ala210Gly)
c.*1262C>G (n.*1262C>G)
c.230+6175C>G
c.1970C>G (p.Ala657Gly)
c.1865C>G (p.Ala622Gly)
c.1856C>G (p.Ala619Gly)
c.1817C>G (p.Ala606Gly)
c.1763C>G (p.Ala588Gly)
c.1667C>G (p.Ala556Gly)
c.1637C>G (p.Ala546Gly)
c.1562C>G (p.Ala521Gly)
c.1460C>G (p.Ala487Gly)
c.1091C>G (p.Ala364Gly)
 ClinVar dbSNP
5g.112835147C>TCA16025557APCc.1605C>T (n.1605C>T)
c.1994C>T (p.Ala665Val)
c.*1946C>T (n.*1946C>T)
c.1886C>T (p.Ala629Val)
c.1940C>T (p.Ala647Val)
c.293C>T
c.629C>T (p.Ala210Val)
c.*1262C>T (n.*1262C>T)
c.230+6175C>T
c.1970C>T (p.Ala657Val)
c.1865C>T (p.Ala622Val)
c.1856C>T (p.Ala619Val)
c.1817C>T (p.Ala606Val)
c.1763C>T (p.Ala588Val)
c.1667C>T (p.Ala556Val)
c.1637C>T (p.Ala546Val)
c.1562C>T (p.Ala521Val)
c.1460C>T (p.Ala487Val)
c.1091C>T (p.Ala364Val)
5g.112835148T>ACA445758942APCc.1606T>A (n.1606T>A)
c.1995T>A (p.Ala665=)
c.*1947T>A (n.*1947T>A)
c.1887T>A (p.Ala629=)
c.1941T>A (p.Ala647=)
c.294T>A
c.630T>A (p.Ala210=)
c.*1263T>A (n.*1263T>A)
c.230+6176T>A
c.1971T>A (p.Ala657=)
c.1866T>A (p.Ala622=)
c.1857T>A (p.Ala619=)
c.1818T>A (p.Ala606=)
c.1764T>A (p.Ala588=)
c.1668T>A (p.Ala556=)
c.1638T>A (p.Ala546=)
c.1563T>A (p.Ala521=)
c.1461T>A (p.Ala487=)
c.1092T>A (p.Ala364=)
 ClinVar dbSNP
5g.112835148T>CCA445758943APCc.1606T>C (n.1606T>C)
c.1995T>C (p.Ala665=)
c.*1947T>C (n.*1947T>C)
c.1887T>C (p.Ala629=)
c.1941T>C (p.Ala647=)
c.294T>C
c.630T>C (p.Ala210=)
c.*1263T>C (n.*1263T>C)
c.230+6176T>C
c.1971T>C (p.Ala657=)
c.1866T>C (p.Ala622=)
c.1857T>C (p.Ala619=)
c.1818T>C (p.Ala606=)
c.1764T>C (p.Ala588=)
c.1668T>C (p.Ala556=)
c.1638T>C (p.Ala546=)
c.1563T>C (p.Ala521=)
c.1461T>C (p.Ala487=)
c.1092T>C (p.Ala364=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.112835148T>GCA445758944APCc.1606T>G (n.1606T>G)
c.1995T>G (p.Ala665=)
c.*1947T>G (n.*1947T>G)
c.1887T>G (p.Ala629=)
c.1941T>G (p.Ala647=)
c.294T>G
c.630T>G (p.Ala210=)
c.*1263T>G (n.*1263T>G)
c.230+6176T>G
c.1971T>G (p.Ala657=)
c.1866T>G (p.Ala622=)
c.1857T>G (p.Ala619=)
c.1818T>G (p.Ala606=)
c.1764T>G (p.Ala588=)
c.1668T>G (p.Ala556=)
c.1638T>G (p.Ala546=)
c.1563T>G (p.Ala521=)
c.1461T>G (p.Ala487=)
c.1092T>G (p.Ala364=)
5g.112835148T=CA1573471571APCc.1606T= (n.1606T=)
c.1995T= (p.Ala665=)
c.*1947T= (n.*1947T=)
c.1887T= (p.Ala629=)
c.1941T= (p.Ala647=)
c.294T=
c.630T= (p.Ala210=)
c.*1263T= (n.*1263T=)
c.230+6176T=
c.1971T= (p.Ala657=)
c.1866T= (p.Ala622=)
c.1857T= (p.Ala619=)
c.1818T= (p.Ala606=)
c.1764T= (p.Ala588=)
c.1668T= (p.Ala556=)
c.1638T= (p.Ala546=)
c.1563T= (p.Ala521=)
c.1461T= (p.Ala487=)
c.1092T= (p.Ala364=)
5g.112835149A>CCA16025558APCc.1607A>C (n.1607A>C)
c.1996A>C (p.Thr666Pro)
c.*1948A>C (n.*1948A>C)
c.1888A>C (p.Thr630Pro)
c.1942A>C (p.Thr648Pro)
c.295A>C
c.631A>C (p.Thr211Pro)
c.*1264A>C (n.*1264A>C)
c.230+6177A>C
c.1972A>C (p.Thr658Pro)
c.1867A>C (p.Thr623Pro)
c.1858A>C (p.Thr620Pro)
c.1819A>C (p.Thr607Pro)
c.1765A>C (p.Thr589Pro)
c.1669A>C (p.Thr557Pro)
c.1639A>C (p.Thr547Pro)
c.1564A>C (p.Thr522Pro)
c.1462A>C (p.Thr488Pro)
c.1093A>C (p.Thr365Pro)
 dbSNP
5g.112835149A>GCA16025559APCc.1607A>G (n.1607A>G)
c.1996A>G (p.Thr666Ala)
c.*1948A>G (n.*1948A>G)
c.1888A>G (p.Thr630Ala)
c.1942A>G (p.Thr648Ala)
c.295A>G
c.631A>G (p.Thr211Ala)
c.*1264A>G (n.*1264A>G)
c.230+6177A>G
c.1972A>G (p.Thr658Ala)
c.1867A>G (p.Thr623Ala)
c.1858A>G (p.Thr620Ala)
c.1819A>G (p.Thr607Ala)
c.1765A>G (p.Thr589Ala)
c.1669A>G (p.Thr557Ala)
c.1639A>G (p.Thr547Ala)
c.1564A>G (p.Thr522Ala)
c.1462A>G (p.Thr488Ala)
c.1093A>G (p.Thr365Ala)
 gnomAD v4
5g.112835149A>TCA16025560APCc.1607A>T (n.1607A>T)
c.1996A>T (p.Thr666Ser)
c.*1948A>T (n.*1948A>T)
c.1888A>T (p.Thr630Ser)
c.1942A>T (p.Thr648Ser)
c.295A>T
c.631A>T (p.Thr211Ser)
c.*1264A>T (n.*1264A>T)
c.230+6177A>T
c.1972A>T (p.Thr658Ser)
c.1867A>T (p.Thr623Ser)
c.1858A>T (p.Thr620Ser)
c.1819A>T (p.Thr607Ser)
c.1765A>T (p.Thr589Ser)
c.1669A>T (p.Thr557Ser)
c.1639A>T (p.Thr547Ser)
c.1564A>T (p.Thr522Ser)
c.1462A>T (p.Thr488Ser)
c.1093A>T (p.Thr365Ser)
 dbSNP
5g.112835150C>ACA16025561APCc.1608C>A (n.1608C>A)
c.1997C>A (p.Thr666Lys)
c.*1949C>A (n.*1949C>A)
c.1889C>A (p.Thr630Lys)
c.1943C>A (p.Thr648Lys)
c.296C>A
c.632C>A (p.Thr211Lys)
c.*1265C>A (n.*1265C>A)
c.230+6178C>A
c.1973C>A (p.Thr658Lys)
c.1868C>A (p.Thr623Lys)
c.1859C>A (p.Thr620Lys)
c.1820C>A (p.Thr607Lys)
c.1766C>A (p.Thr589Lys)
c.1670C>A (p.Thr557Lys)
c.1640C>A (p.Thr547Lys)
c.1565C>A (p.Thr522Lys)
c.1463C>A (p.Thr488Lys)
c.1094C>A (p.Thr365Lys)
 dbSNP
5g.112835150C>GCA16025562APCc.1608C>G (n.1608C>G)
c.1997C>G (p.Thr666Arg)
c.*1949C>G (n.*1949C>G)
c.1889C>G (p.Thr630Arg)
c.1943C>G (p.Thr648Arg)
c.296C>G
c.632C>G (p.Thr211Arg)
c.*1265C>G (n.*1265C>G)
c.230+6178C>G
c.1973C>G (p.Thr658Arg)
c.1868C>G (p.Thr623Arg)
c.1859C>G (p.Thr620Arg)
c.1820C>G (p.Thr607Arg)
c.1766C>G (p.Thr589Arg)
c.1670C>G (p.Thr557Arg)
c.1640C>G (p.Thr547Arg)
c.1565C>G (p.Thr522Arg)
c.1463C>G (p.Thr488Arg)
c.1094C>G (p.Thr365Arg)
 dbSNP
5g.112835150C>TCA16025563APCc.1608C>T (n.1608C>T)
c.1997C>T (p.Thr666Ile)
c.*1949C>T (n.*1949C>T)
c.1889C>T (p.Thr630Ile)
c.1943C>T (p.Thr648Ile)
c.296C>T
c.632C>T (p.Thr211Ile)
c.*1265C>T (n.*1265C>T)
c.230+6178C>T
c.1973C>T (p.Thr658Ile)
c.1868C>T (p.Thr623Ile)
c.1859C>T (p.Thr620Ile)
c.1820C>T (p.Thr607Ile)
c.1766C>T (p.Thr589Ile)
c.1670C>T (p.Thr557Ile)
c.1640C>T (p.Thr547Ile)
c.1565C>T (p.Thr522Ile)
c.1463C>T (p.Thr488Ile)
c.1094C>T (p.Thr365Ile)
 ClinVar dbSNP
5g.112835150_112835151delinsCACA1573471580APCc.1608_1609delinsCA (n.1608_1609delinsCA)
c.1997_1998delinsCA (p.Thr666=)
c.*1949_*1950delinsCA (n.*1949_*1950delinsCA)
c.1889_1890delinsCA (p.Thr630=)
c.1943_1944delinsCA (p.Thr648=)
c.296_297delinsCA
c.632_633delinsCA (p.Thr211=)
c.*1265_*1266delinsCA (n.*1265_*1266delinsCA)
c.230+6178_230+6179delinsCA
c.1973_1974delinsCA (p.Thr658=)
c.1868_1869delinsCA (p.Thr623=)
c.1859_1860delinsCA (p.Thr620=)
c.1820_1821delinsCA (p.Thr607=)
c.1766_1767delinsCA (p.Thr589=)
c.1670_1671delinsCA (p.Thr557=)
c.1640_1641delinsCA (p.Thr547=)
c.1565_1566delinsCA (p.Thr522=)
c.1463_1464delinsCA (p.Thr488=)
c.1094_1095delinsCA (p.Thr365=)
5g.112835151A>CCA445758945APCc.1609A>C (n.1609A>C)
c.1998A>C (p.Thr666=)
c.*1950A>C (n.*1950A>C)
c.1890A>C (p.Thr630=)
c.1944A>C (p.Thr648=)
c.297A>C
c.633A>C (p.Thr211=)
c.*1266A>C (n.*1266A>C)
c.230+6179A>C
c.1974A>C (p.Thr658=)
c.1869A>C (p.Thr623=)
c.1860A>C (p.Thr620=)
c.1821A>C (p.Thr607=)
c.1767A>C (p.Thr589=)
c.1671A>C (p.Thr557=)
c.1641A>C (p.Thr547=)
c.1566A>C (p.Thr522=)
c.1464A>C (p.Thr488=)
c.1095A>C (p.Thr365=)
5g.112835151A>GCA445758946APCc.1609A>G (n.1609A>G)
c.1998A>G (p.Thr666=)
c.*1950A>G (n.*1950A>G)
c.1890A>G (p.Thr630=)
c.1944A>G (p.Thr648=)
c.297A>G
c.633A>G (p.Thr211=)
c.*1266A>G (n.*1266A>G)
c.230+6179A>G
c.1974A>G (p.Thr658=)
c.1869A>G (p.Thr623=)
c.1860A>G (p.Thr620=)
c.1821A>G (p.Thr607=)
c.1767A>G (p.Thr589=)
c.1671A>G (p.Thr557=)
c.1641A>G (p.Thr547=)
c.1566A>G (p.Thr522=)
c.1464A>G (p.Thr488=)
c.1095A>G (p.Thr365=)
 dbSNP
5g.112835151A>TCA445758947APCc.1609A>T (n.1609A>T)
c.1998A>T (p.Thr666=)
c.*1950A>T (n.*1950A>T)
c.1890A>T (p.Thr630=)
c.1944A>T (p.Thr648=)
c.297A>T
c.633A>T (p.Thr211=)
c.*1266A>T (n.*1266A>T)
c.230+6179A>T
c.1974A>T (p.Thr658=)
c.1869A>T (p.Thr623=)
c.1860A>T (p.Thr620=)
c.1821A>T (p.Thr607=)
c.1767A>T (p.Thr589=)
c.1671A>T (p.Thr557=)
c.1641A>T (p.Thr547=)
c.1566A>T (p.Thr522=)
c.1464A>T (p.Thr488=)
c.1095A>T (p.Thr365=)
 ClinVar
5g.112835153dupCA2695205054APCc.1611dup (n.1611dup)
c.2000dup (p.Asn667LysfsTer2)
c.*1952dup (n.*1952dup)
c.1892dup (p.Asn631LysfsTer2)
c.1946dup (p.Asn649LysfsTer2)
c.299dup
c.635dup (p.Asn212LysfsTer2)
c.*1268dup (n.*1268dup)
c.230+6181dup
c.1976dup (p.Asn659LysfsTer2)
c.1871dup (p.Asn624LysfsTer2)
c.1862dup (p.Asn621LysfsTer2)
c.1823dup (p.Asn608LysfsTer2)
c.1769dup (p.Asn590LysfsTer2)
c.1673dup (p.Asn558LysfsTer2)
c.1643dup (p.Asn548LysfsTer2)
c.1568dup (p.Asn523LysfsTer2)
c.1466dup (p.Asn489LysfsTer2)
c.1097dup (p.Asn366LysfsTer2)
5g.112835153delCA915942608APCc.1611del (n.1611del)
c.2000del (p.Asn667MetfsTer8)
c.*1952del (n.*1952del)
c.1892del (p.Asn631MetfsTer8)
c.1946del (p.Asn649MetfsTer8)
c.299del
c.635del (p.Asn212MetfsTer8)
c.*1268del (n.*1268del)
c.230+6181del
c.1976del (p.Asn659MetfsTer8)
c.1871del (p.Asn624MetfsTer8)
c.1862del (p.Asn621MetfsTer8)
c.1823del (p.Asn608MetfsTer8)
c.1769del (p.Asn590MetfsTer8)
c.1673del (p.Asn558MetfsTer8)
c.1643del (p.Asn548MetfsTer8)
c.1568del (p.Asn523MetfsTer8)
c.1466del (p.Asn489MetfsTer8)
c.1097del (p.Asn366MetfsTer8)
 ClinVar dbSNP
5g.112835152A=CA1573471588APCc.1610A= (n.1610A=)
c.1999A= (p.Asn667=)
c.*1951A= (n.*1951A=)
c.1891A= (p.Asn631=)
c.1945A= (p.Asn649=)
c.298A=
c.634A= (p.Asn212=)
c.*1267A= (n.*1267A=)
c.230+6180A=
c.1975A= (p.Asn659=)
c.1870A= (p.Asn624=)
c.1861A= (p.Asn621=)
c.1822A= (p.Asn608=)
c.1768A= (p.Asn590=)
c.1672A= (p.Asn558=)
c.1642A= (p.Asn548=)
c.1567A= (p.Asn523=)
c.1465A= (p.Asn489=)
c.1096A= (p.Asn366=)
5g.112835152A>CCA16025564APCc.1610A>C (n.1610A>C)
c.1999A>C (p.Asn667His)
c.*1951A>C (n.*1951A>C)
c.1891A>C (p.Asn631His)
c.1945A>C (p.Asn649His)
c.298A>C
c.634A>C (p.Asn212His)
c.*1267A>C (n.*1267A>C)
c.230+6180A>C
c.1975A>C (p.Asn659His)
c.1870A>C (p.Asn624His)
c.1861A>C (p.Asn621His)
c.1822A>C (p.Asn608His)
c.1768A>C (p.Asn590His)
c.1672A>C (p.Asn558His)
c.1642A>C (p.Asn548His)
c.1567A>C (p.Asn523His)
c.1465A>C (p.Asn489His)
c.1096A>C (p.Asn366His)
5g.112835152A>GCA16025565APCc.1610A>G (n.1610A>G)
c.1999A>G (p.Asn667Asp)
c.*1951A>G (n.*1951A>G)
c.1891A>G (p.Asn631Asp)
c.1945A>G (p.Asn649Asp)
c.298A>G
c.634A>G (p.Asn212Asp)
c.*1267A>G (n.*1267A>G)
c.230+6180A>G
c.1975A>G (p.Asn659Asp)
c.1870A>G (p.Asn624Asp)
c.1861A>G (p.Asn621Asp)
c.1822A>G (p.Asn608Asp)
c.1768A>G (p.Asn590Asp)
c.1672A>G (p.Asn558Asp)
c.1642A>G (p.Asn548Asp)
c.1567A>G (p.Asn523Asp)
c.1465A>G (p.Asn489Asp)
c.1096A>G (p.Asn366Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.112835152A>TCA16025566APCc.1610A>T (n.1610A>T)
c.1999A>T (p.Asn667Tyr)
c.*1951A>T (n.*1951A>T)
c.1891A>T (p.Asn631Tyr)
c.1945A>T (p.Asn649Tyr)
c.298A>T
c.634A>T (p.Asn212Tyr)
c.*1267A>T (n.*1267A>T)
c.230+6180A>T
c.1975A>T (p.Asn659Tyr)
c.1870A>T (p.Asn624Tyr)
c.1861A>T (p.Asn621Tyr)
c.1822A>T (p.Asn608Tyr)
c.1768A>T (p.Asn590Tyr)
c.1672A>T (p.Asn558Tyr)
c.1642A>T (p.Asn548Tyr)
c.1567A>T (p.Asn523Tyr)
c.1465A>T (p.Asn489Tyr)
c.1096A>T (p.Asn366Tyr)
5g.112835153A>CCA16025567APCc.1611A>C (n.1611A>C)
c.2000A>C (p.Asn667Thr)
c.*1952A>C (n.*1952A>C)
c.1892A>C (p.Asn631Thr)
c.1946A>C (p.Asn649Thr)
c.299A>C
c.635A>C (p.Asn212Thr)
c.*1268A>C (n.*1268A>C)
c.230+6181A>C
c.1976A>C (p.Asn659Thr)
c.1871A>C (p.Asn624Thr)
c.1862A>C (p.Asn621Thr)
c.1823A>C (p.Asn608Thr)
c.1769A>C (p.Asn590Thr)
c.1673A>C (p.Asn558Thr)
c.1643A>C (p.Asn548Thr)
c.1568A>C (p.Asn523Thr)
c.1466A>C (p.Asn489Thr)
c.1097A>C (p.Asn366Thr)
5g.112835153A>GCA16025568APCc.1611A>G (n.1611A>G)
c.2000A>G (p.Asn667Ser)
c.*1952A>G (n.*1952A>G)
c.1892A>G (p.Asn631Ser)
c.1946A>G (p.Asn649Ser)
c.299A>G
c.635A>G (p.Asn212Ser)
c.*1268A>G (n.*1268A>G)
c.230+6181A>G
c.1976A>G (p.Asn659Ser)
c.1871A>G (p.Asn624Ser)
c.1862A>G (p.Asn621Ser)
c.1823A>G (p.Asn608Ser)
c.1769A>G (p.Asn590Ser)
c.1673A>G (p.Asn558Ser)
c.1643A>G (p.Asn548Ser)
c.1568A>G (p.Asn523Ser)
c.1466A>G (p.Asn489Ser)
c.1097A>G (p.Asn366Ser)
5g.112835153A>TCA16025569APCc.1611A>T (n.1611A>T)
c.2000A>T (p.Asn667Ile)
c.*1952A>T (n.*1952A>T)
c.1892A>T (p.Asn631Ile)
c.1946A>T (p.Asn649Ile)
c.299A>T
c.635A>T (p.Asn212Ile)
c.*1268A>T (n.*1268A>T)
c.230+6181A>T
c.1976A>T (p.Asn659Ile)
c.1871A>T (p.Asn624Ile)
c.1862A>T (p.Asn621Ile)
c.1823A>T (p.Asn608Ile)
c.1769A>T (p.Asn590Ile)
c.1673A>T (p.Asn558Ile)
c.1643A>T (p.Asn548Ile)
c.1568A>T (p.Asn523Ile)
c.1466A>T (p.Asn489Ile)
c.1097A>T (p.Asn366Ile)
5g.112835153_112835154insCCA2695205055APCc.1611_1612insC (n.1611_1612insC)
c.2000_2001insC (p.Glu668Ter)
c.*1952_*1953insC (n.*1952_*1953insC)
c.1892_1893insC (p.Glu632Ter)
c.1946_1947insC (p.Glu650Ter)
c.299_300insC
c.635_636insC (p.Glu213Ter)
c.*1268_*1269insC (n.*1268_*1269insC)
c.230+6181_230+6182insC
c.1976_1977insC (p.Glu660Ter)
c.1871_1872insC (p.Glu625Ter)
c.1862_1863insC (p.Glu622Ter)
c.1823_1824insC (p.Glu609Ter)
c.1769_1770insC (p.Glu591Ter)
c.1673_1674insC (p.Glu559Ter)
c.1643_1644insC (p.Glu549Ter)
c.1568_1569insC (p.Glu524Ter)
c.1466_1467insC (p.Glu490Ter)
c.1097_1098insC (p.Glu367Ter)
5g.112835153_112835154insGCA658760630APCc.1611_1612insG (n.1611_1612insG)
c.2000_2001insG (p.Asn667LysfsTer2)
c.*1952_*1953insG (n.*1952_*1953insG)
c.1892_1893insG (p.Asn631LysfsTer2)
c.1946_1947insG (p.Asn649LysfsTer2)
c.299_300insG
c.635_636insG (p.Asn212LysfsTer2)
c.*1268_*1269insG (n.*1268_*1269insG)
c.230+6181_230+6182insG
c.1976_1977insG (p.Asn659LysfsTer2)
c.1871_1872insG (p.Asn624LysfsTer2)
c.1862_1863insG (p.Asn621LysfsTer2)
c.1823_1824insG (p.Asn608LysfsTer2)
c.1769_1770insG (p.Asn590LysfsTer2)
c.1673_1674insG (p.Asn558LysfsTer2)
c.1643_1644insG (p.Asn548LysfsTer2)
c.1568_1569insG (p.Asn523LysfsTer2)
c.1466_1467insG (p.Asn489LysfsTer2)
c.1097_1098insG (p.Asn366LysfsTer2)
5g.112835154T>ACA16025570APCc.1612T>A (n.1612T>A)
c.2001T>A (p.Asn667Lys)
c.*1953T>A (n.*1953T>A)
c.1893T>A (p.Asn631Lys)
c.1947T>A (p.Asn649Lys)
c.300T>A
c.636T>A (p.Asn212Lys)
c.*1269T>A (n.*1269T>A)
c.230+6182T>A
c.1977T>A (p.Asn659Lys)
c.1872T>A (p.Asn624Lys)
c.1863T>A (p.Asn621Lys)
c.1824T>A (p.Asn608Lys)
c.1770T>A (p.Asn590Lys)
c.1674T>A (p.Asn558Lys)
c.1644T>A (p.Asn548Lys)
c.1569T>A (p.Asn523Lys)
c.1467T>A (p.Asn489Lys)
c.1098T>A (p.Asn366Lys)
 dbSNP
5g.112835154T>CCA445758948APCc.1612T>C (n.1612T>C)
c.2001T>C (p.Asn667=)
c.*1953T>C (n.*1953T>C)
c.1893T>C (p.Asn631=)
c.1947T>C (p.Asn649=)
c.300T>C
c.636T>C (p.Asn212=)
c.*1269T>C (n.*1269T>C)
c.230+6182T>C
c.1977T>C (p.Asn659=)
c.1872T>C (p.Asn624=)
c.1863T>C (p.Asn621=)
c.1824T>C (p.Asn608=)
c.1770T>C (p.Asn590=)
c.1674T>C (p.Asn558=)
c.1644T>C (p.Asn548=)
c.1569T>C (p.Asn523=)
c.1467T>C (p.Asn489=)
c.1098T>C (p.Asn366=)
5g.112835154T>GCA16025571APCc.1612T>G (n.1612T>G)
c.2001T>G (p.Asn667Lys)
c.*1953T>G (n.*1953T>G)
c.1893T>G (p.Asn631Lys)
c.1947T>G (p.Asn649Lys)
c.300T>G
c.636T>G (p.Asn212Lys)
c.*1269T>G (n.*1269T>G)
c.230+6182T>G
c.1977T>G (p.Asn659Lys)
c.1872T>G (p.Asn624Lys)
c.1863T>G (p.Asn621Lys)
c.1824T>G (p.Asn608Lys)
c.1770T>G (p.Asn590Lys)
c.1674T>G (p.Asn558Lys)
c.1644T>G (p.Asn548Lys)
c.1569T>G (p.Asn523Lys)
c.1467T>G (p.Asn489Lys)
c.1098T>G (p.Asn366Lys)
5g.112835155G>ACA16025572APCc.1613G>A (n.1613G>A)
c.2002G>A (p.Glu668Lys)
c.*1954G>A (n.*1954G>A)
c.1894G>A (p.Glu632Lys)
c.1948G>A (p.Glu650Lys)
c.301G>A
c.637G>A (p.Glu213Lys)
c.*1270G>A (n.*1270G>A)
c.230+6183G>A
c.1978G>A (p.Glu660Lys)
c.1873G>A (p.Glu625Lys)
c.1864G>A (p.Glu622Lys)
c.1825G>A (p.Glu609Lys)
c.1771G>A (p.Glu591Lys)
c.1675G>A (p.Glu559Lys)
c.1645G>A (p.Glu549Lys)
c.1570G>A (p.Glu524Lys)
c.1468G>A (p.Glu490Lys)
c.1099G>A (p.Glu367Lys)
 dbSNP gnomAD v4
5g.112835155G>CCA16025573APCc.1613G>C (n.1613G>C)
c.2002G>C (p.Glu668Gln)
c.*1954G>C (n.*1954G>C)
c.1894G>C (p.Glu632Gln)
c.1948G>C (p.Glu650Gln)
c.301G>C
c.637G>C (p.Glu213Gln)
c.*1270G>C (n.*1270G>C)
c.230+6183G>C
c.1978G>C (p.Glu660Gln)
c.1873G>C (p.Glu625Gln)
c.1864G>C (p.Glu622Gln)
c.1825G>C (p.Glu609Gln)
c.1771G>C (p.Glu591Gln)
c.1675G>C (p.Glu559Gln)
c.1645G>C (p.Glu549Gln)
c.1570G>C (p.Glu524Gln)
c.1468G>C (p.Glu490Gln)
c.1099G>C (p.Glu367Gln)
 dbSNP
5g.112835155G>TCA16025574APCc.1613G>T (n.1613G>T)
c.2002G>T (p.Glu668Ter)
c.*1954G>T (n.*1954G>T)
c.1894G>T (p.Glu632Ter)
c.1948G>T (p.Glu650Ter)
c.301G>T
c.637G>T (p.Glu213Ter)
c.*1270G>T (n.*1270G>T)
c.230+6183G>T
c.1978G>T (p.Glu660Ter)
c.1873G>T (p.Glu625Ter)
c.1864G>T (p.Glu622Ter)
c.1825G>T (p.Glu609Ter)
c.1771G>T (p.Glu591Ter)
c.1675G>T (p.Glu559Ter)
c.1645G>T (p.Glu549Ter)
c.1570G>T (p.Glu524Ter)
c.1468G>T (p.Glu490Ter)
c.1099G>T (p.Glu367Ter)
 dbSNP
5g.112835156A=CA1573471592APCc.1614A= (n.1614A=)
c.2003A= (p.Glu668=)
c.*1955A= (n.*1955A=)
c.1895A= (p.Glu632=)
c.1949A= (p.Glu650=)
c.302A=
c.638A= (p.Glu213=)
c.*1271A= (n.*1271A=)
c.230+6184A=
c.1979A= (p.Glu660=)
c.1874A= (p.Glu625=)
c.1865A= (p.Glu622=)
c.1826A= (p.Glu609=)
c.1772A= (p.Glu591=)
c.1676A= (p.Glu559=)
c.1646A= (p.Glu549=)
c.1571A= (p.Glu524=)
c.1469A= (p.Glu490=)
c.1100A= (p.Glu367=)
5g.112835156A>CCA16025575APCc.1614A>C (n.1614A>C)
c.2003A>C (p.Glu668Ala)
c.*1955A>C (n.*1955A>C)
c.1895A>C (p.Glu632Ala)
c.1949A>C (p.Glu650Ala)
c.302A>C
c.638A>C (p.Glu213Ala)
c.*1271A>C (n.*1271A>C)
c.230+6184A>C
c.1979A>C (p.Glu660Ala)
c.1874A>C (p.Glu625Ala)
c.1865A>C (p.Glu622Ala)
c.1826A>C (p.Glu609Ala)
c.1772A>C (p.Glu591Ala)
c.1676A>C (p.Glu559Ala)
c.1646A>C (p.Glu549Ala)
c.1571A>C (p.Glu524Ala)
c.1469A>C (p.Glu490Ala)
c.1100A>C (p.Glu367Ala)
5g.112835156A>GCA16025576APCc.1614A>G (n.1614A>G)
c.2003A>G (p.Glu668Gly)
c.*1955A>G (n.*1955A>G)
c.1895A>G (p.Glu632Gly)
c.1949A>G (p.Glu650Gly)
c.302A>G
c.638A>G (p.Glu213Gly)
c.*1271A>G (n.*1271A>G)
c.230+6184A>G
c.1979A>G (p.Glu660Gly)
c.1874A>G (p.Glu625Gly)
c.1865A>G (p.Glu622Gly)
c.1826A>G (p.Glu609Gly)
c.1772A>G (p.Glu591Gly)
c.1676A>G (p.Glu559Gly)
c.1646A>G (p.Glu549Gly)
c.1571A>G (p.Glu524Gly)
c.1469A>G (p.Glu490Gly)
c.1100A>G (p.Glu367Gly)
 gnomAD v4
5g.112835156A>TCA16025577APCc.1614A>T (n.1614A>T)
c.2003A>T (p.Glu668Val)
c.*1955A>T (n.*1955A>T)
c.1895A>T (p.Glu632Val)
c.1949A>T (p.Glu650Val)
c.302A>T
c.638A>T (p.Glu213Val)
c.*1271A>T (n.*1271A>T)
c.230+6184A>T
c.1979A>T (p.Glu660Val)
c.1874A>T (p.Glu625Val)
c.1865A>T (p.Glu622Val)
c.1826A>T (p.Glu609Val)
c.1772A>T (p.Glu591Val)
c.1676A>T (p.Glu559Val)
c.1646A>T (p.Glu549Val)
c.1571A>T (p.Glu524Val)
c.1469A>T (p.Glu490Val)
c.1100A>T (p.Glu367Val)
5g.112835157G>ACA445758949APCc.1615G>A (n.1615G>A)
c.2004G>A (p.Glu668=)
c.*1956G>A (n.*1956G>A)
c.1896G>A (p.Glu632=)
c.1950G>A (p.Glu650=)
c.303G>A
c.639G>A (p.Glu213=)
c.*1272G>A (n.*1272G>A)
c.230+6185G>A
c.1980G>A (p.Glu660=)
c.1875G>A (p.Glu625=)
c.1866G>A (p.Glu622=)
c.1827G>A (p.Glu609=)
c.1773G>A (p.Glu591=)
c.1677G>A (p.Glu559=)
c.1647G>A (p.Glu549=)
c.1572G>A (p.Glu524=)
c.1470G>A (p.Glu490=)
c.1101G>A (p.Glu367=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.112835157G>CCA16025578APCc.1615G>C (n.1615G>C)
c.2004G>C (p.Glu668Asp)
c.*1956G>C (n.*1956G>C)
c.1896G>C (p.Glu632Asp)
c.1950G>C (p.Glu650Asp)
c.303G>C
c.639G>C (p.Glu213Asp)
c.*1272G>C (n.*1272G>C)
c.230+6185G>C
c.1980G>C (p.Glu660Asp)
c.1875G>C (p.Glu625Asp)
c.1866G>C (p.Glu622Asp)
c.1827G>C (p.Glu609Asp)
c.1773G>C (p.Glu591Asp)
c.1677G>C (p.Glu559Asp)
c.1647G>C (p.Glu549Asp)
c.1572G>C (p.Glu524Asp)
c.1470G>C (p.Glu490Asp)
c.1101G>C (p.Glu367Asp)
 dbSNP
5g.112835157G=CA1573471599APCc.1615G= (n.1615G=)
c.2004G= (p.Glu668=)
c.*1956G= (n.*1956G=)
c.1896G= (p.Glu632=)
c.1950G= (p.Glu650=)
c.303G=
c.639G= (p.Glu213=)
c.*1272G= (n.*1272G=)
c.230+6185G=
c.1980G= (p.Glu660=)
c.1875G= (p.Glu625=)
c.1866G= (p.Glu622=)
c.1827G= (p.Glu609=)
c.1773G= (p.Glu591=)
c.1677G= (p.Glu559=)
c.1647G= (p.Glu549=)
c.1572G= (p.Glu524=)
c.1470G= (p.Glu490=)
c.1101G= (p.Glu367=)
5g.112835157G>TCA16025579APCc.1615G>T (n.1615G>T)
c.2004G>T (p.Glu668Asp)
c.*1956G>T (n.*1956G>T)
c.1896G>T (p.Glu632Asp)
c.1950G>T (p.Glu650Asp)
c.303G>T
c.639G>T (p.Glu213Asp)
c.*1272G>T (n.*1272G>T)
c.230+6185G>T
c.1980G>T (p.Glu660Asp)
c.1875G>T (p.Glu625Asp)
c.1866G>T (p.Glu622Asp)
c.1827G>T (p.Glu609Asp)
c.1773G>T (p.Glu591Asp)
c.1677G>T (p.Glu559Asp)
c.1647G>T (p.Glu549Asp)
c.1572G>T (p.Glu524Asp)
c.1470G>T (p.Glu490Asp)
c.1101G>T (p.Glu367Asp)
 dbSNP
5g.112835158dupCA645509157APCc.1616dup (n.1616dup)
c.2005dup (p.Asp669GlyfsTer23)
c.*1957dup (n.*1957dup)
c.1897dup (p.Asp633GlyfsTer23)
c.1951dup (p.Asp651GlyfsTer23)
c.304dup
c.640dup (p.Asp214GlyfsTer23)
c.*1273dup (n.*1273dup)
c.230+6186dup
c.1981dup (p.Asp661GlyfsTer23)
c.1876dup (p.Asp626GlyfsTer23)
c.1867dup (p.Asp623GlyfsTer23)
c.1828dup (p.Asp610GlyfsTer23)
c.1774dup (p.Asp592GlyfsTer23)
c.1678dup (p.Asp560GlyfsTer23)
c.1648dup (p.Asp550GlyfsTer23)
c.1573dup (p.Asp525GlyfsTer23)
c.1471dup (p.Asp491GlyfsTer23)
c.1102dup (p.Asp368GlyfsTer23)
 ClinVar dbSNP
5g.112835158G>ACA16025580APCc.1616G>A (n.1616G>A)
c.2005G>A (p.Asp669Asn)
c.*1957G>A (n.*1957G>A)
c.1897G>A (p.Asp633Asn)
c.1951G>A (p.Asp651Asn)
c.304G>A
c.640G>A (p.Asp214Asn)
c.*1273G>A (n.*1273G>A)
c.230+6186G>A
c.1981G>A (p.Asp661Asn)
c.1876G>A (p.Asp626Asn)
c.1867G>A (p.Asp623Asn)
c.1828G>A (p.Asp610Asn)
c.1774G>A (p.Asp592Asn)
c.1678G>A (p.Asp560Asn)
c.1648G>A (p.Asp550Asn)
c.1573G>A (p.Asp525Asn)
c.1471G>A (p.Asp491Asn)
c.1102G>A (p.Asp368Asn)
 ClinVar dbSNP
5g.112835158G>CCA16025581APCc.1616G>C (n.1616G>C)
c.2005G>C (p.Asp669His)
c.*1957G>C (n.*1957G>C)
c.1897G>C (p.Asp633His)
c.1951G>C (p.Asp651His)
c.304G>C
c.640G>C (p.Asp214His)
c.*1273G>C (n.*1273G>C)
c.230+6186G>C
c.1981G>C (p.Asp661His)
c.1876G>C (p.Asp626His)
c.1867G>C (p.Asp623His)
c.1828G>C (p.Asp610His)
c.1774G>C (p.Asp592His)
c.1678G>C (p.Asp560His)
c.1648G>C (p.Asp550His)
c.1573G>C (p.Asp525His)
c.1471G>C (p.Asp491His)
c.1102G>C (p.Asp368His)
 dbSNP
5g.112835158G=CA1573471617APCc.1616G= (n.1616G=)
c.2005G= (p.Asp669=)
c.*1957G= (n.*1957G=)
c.1897G= (p.Asp633=)
c.1951G= (p.Asp651=)
c.304G=
c.640G= (p.Asp214=)
c.*1273G= (n.*1273G=)
c.230+6186G=
c.1981G= (p.Asp661=)
c.1876G= (p.Asp626=)
c.1867G= (p.Asp623=)
c.1828G= (p.Asp610=)
c.1774G= (p.Asp592=)
c.1678G= (p.Asp560=)
c.1648G= (p.Asp550=)
c.1573G= (p.Asp525=)
c.1471G= (p.Asp491=)
c.1102G= (p.Asp368=)
5g.112835158G>TCA16025582APCc.1616G>T (n.1616G>T)
c.2005G>T (p.Asp669Tyr)
c.*1957G>T (n.*1957G>T)
c.1897G>T (p.Asp633Tyr)
c.1951G>T (p.Asp651Tyr)
c.304G>T
c.640G>T (p.Asp214Tyr)
c.*1273G>T (n.*1273G>T)
c.230+6186G>T
c.1981G>T (p.Asp661Tyr)
c.1876G>T (p.Asp626Tyr)
c.1867G>T (p.Asp623Tyr)
c.1828G>T (p.Asp610Tyr)
c.1774G>T (p.Asp592Tyr)
c.1678G>T (p.Asp560Tyr)
c.1648G>T (p.Asp550Tyr)
c.1573G>T (p.Asp525Tyr)
c.1471G>T (p.Asp491Tyr)
c.1102G>T (p.Asp368Tyr)
 dbSNP
5g.112835159A=CA1573471630APCc.1617A= (n.1617A=)
c.2006A= (p.Asp669=)
c.*1958A= (n.*1958A=)
c.1898A= (p.Asp633=)
c.1952A= (p.Asp651=)
c.305A=
c.641A= (p.Asp214=)
c.*1274A= (n.*1274A=)
c.230+6187A=
c.1982A= (p.Asp661=)
c.1877A= (p.Asp626=)
c.1868A= (p.Asp623=)
c.1829A= (p.Asp610=)
c.1775A= (p.Asp592=)
c.1679A= (p.Asp560=)
c.1649A= (p.Asp550=)
c.1574A= (p.Asp525=)
c.1472A= (p.Asp491=)
c.1103A= (p.Asp368=)
5g.112835159A>CCA16025583APCc.1617A>C (n.1617A>C)
c.2006A>C (p.Asp669Ala)
c.*1958A>C (n.*1958A>C)
c.1898A>C (p.Asp633Ala)
c.1952A>C (p.Asp651Ala)
c.305A>C
c.641A>C (p.Asp214Ala)
c.*1274A>C (n.*1274A>C)
c.230+6187A>C
c.1982A>C (p.Asp661Ala)
c.1877A>C (p.Asp626Ala)
c.1868A>C (p.Asp623Ala)
c.1829A>C (p.Asp610Ala)
c.1775A>C (p.Asp592Ala)
c.1679A>C (p.Asp560Ala)
c.1649A>C (p.Asp550Ala)
c.1574A>C (p.Asp525Ala)
c.1472A>C (p.Asp491Ala)
c.1103A>C (p.Asp368Ala)
5g.112835159A>GCA16025584APCc.1617A>G (n.1617A>G)
c.2006A>G (p.Asp669Gly)
c.*1958A>G (n.*1958A>G)
c.1898A>G (p.Asp633Gly)
c.1952A>G (p.Asp651Gly)
c.305A>G
c.641A>G (p.Asp214Gly)
c.*1274A>G (n.*1274A>G)
c.230+6187A>G
c.1982A>G (p.Asp661Gly)
c.1877A>G (p.Asp626Gly)
c.1868A>G (p.Asp623Gly)
c.1829A>G (p.Asp610Gly)
c.1775A>G (p.Asp592Gly)
c.1679A>G (p.Asp560Gly)
c.1649A>G (p.Asp550Gly)
c.1574A>G (p.Asp525Gly)
c.1472A>G (p.Asp491Gly)
c.1103A>G (p.Asp368Gly)
 ClinVar dbSNP
5g.112835159A>TCA16025585APCc.1617A>T (n.1617A>T)
c.2006A>T (p.Asp669Val)
c.*1958A>T (n.*1958A>T)
c.1898A>T (p.Asp633Val)
c.1952A>T (p.Asp651Val)
c.305A>T
c.641A>T (p.Asp214Val)
c.*1274A>T (n.*1274A>T)
c.230+6187A>T
c.1982A>T (p.Asp661Val)
c.1877A>T (p.Asp626Val)
c.1868A>T (p.Asp623Val)
c.1829A>T (p.Asp610Val)
c.1775A>T (p.Asp592Val)
c.1679A>T (p.Asp560Val)
c.1649A>T (p.Asp550Val)
c.1574A>T (p.Asp525Val)
c.1472A>T (p.Asp491Val)
c.1103A>T (p.Asp368Val)
5g.112835160C>ACA029941APCc.1618C>A (n.1618C>A)
c.2007C>A (p.Asp669Glu)
c.*1959C>A (n.*1959C>A)
c.1899C>A (p.Asp633Glu)
c.1953C>A (p.Asp651Glu)
c.306C>A
c.642C>A (p.Asp214Glu)
c.*1275C>A (n.*1275C>A)
c.230+6188C>A
c.1983C>A (p.Asp661Glu)
c.1878C>A (p.Asp626Glu)
c.1869C>A (p.Asp623Glu)
c.1830C>A (p.Asp610Glu)
c.1776C>A (p.Asp592Glu)
c.1680C>A (p.Asp560Glu)
c.1650C>A (p.Asp550Glu)
c.1575C>A (p.Asp525Glu)
c.1473C>A (p.Asp491Glu)
c.1104C>A (p.Asp368Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112835160C=CA1573471638APCc.1618C= (n.1618C=)
c.2007C= (p.Asp669=)
c.*1959C= (n.*1959C=)
c.1899C= (p.Asp633=)
c.1953C= (p.Asp651=)
c.306C=
c.642C= (p.Asp214=)
c.*1275C= (n.*1275C=)
c.230+6188C=
c.1983C= (p.Asp661=)
c.1878C= (p.Asp626=)
c.1869C= (p.Asp623=)
c.1830C= (p.Asp610=)
c.1776C= (p.Asp592=)
c.1680C= (p.Asp560=)
c.1650C= (p.Asp550=)
c.1575C= (p.Asp525=)
c.1473C= (p.Asp491=)
c.1104C= (p.Asp368=)
5g.112835160C>GCA16025586APCc.1618C>G (n.1618C>G)
c.2007C>G (p.Asp669Glu)
c.*1959C>G (n.*1959C>G)
c.1899C>G (p.Asp633Glu)
c.1953C>G (p.Asp651Glu)
c.306C>G
c.642C>G (p.Asp214Glu)
c.*1275C>G (n.*1275C>G)
c.230+6188C>G
c.1983C>G (p.Asp661Glu)
c.1878C>G (p.Asp626Glu)
c.1869C>G (p.Asp623Glu)
c.1830C>G (p.Asp610Glu)
c.1776C>G (p.Asp592Glu)
c.1680C>G (p.Asp560Glu)
c.1650C>G (p.Asp550Glu)
c.1575C>G (p.Asp525Glu)
c.1473C>G (p.Asp491Glu)
c.1104C>G (p.Asp368Glu)
 ClinVar dbSNP
5g.112835160C>TCA445758950APCc.1618C>T (n.1618C>T)
c.2007C>T (p.Asp669=)
c.*1959C>T (n.*1959C>T)
c.1899C>T (p.Asp633=)
c.1953C>T (p.Asp651=)
c.306C>T
c.642C>T (p.Asp214=)
c.*1275C>T (n.*1275C>T)
c.230+6188C>T
c.1983C>T (p.Asp661=)
c.1878C>T (p.Asp626=)
c.1869C>T (p.Asp623=)
c.1830C>T (p.Asp610=)
c.1776C>T (p.Asp592=)
c.1680C>T (p.Asp560=)
c.1650C>T (p.Asp550=)
c.1575C>T (p.Asp525=)
c.1473C>T (p.Asp491=)
c.1104C>T (p.Asp368=)
 ClinVar dbSNP gnomAD v4
5g.112835161dupCA1139771096APCc.1619dup (n.1619dup)
c.2008dup (p.His670ProfsTer22)
c.*1960dup (n.*1960dup)
c.1900dup (p.His634ProfsTer22)
c.1954dup (p.His652ProfsTer22)
c.307dup
c.643dup (p.His215ProfsTer22)
c.*1276dup (n.*1276dup)
c.230+6189dup
c.1984dup (p.His662ProfsTer22)
c.1879dup (p.His627ProfsTer22)
c.1870dup (p.His624ProfsTer22)
c.1831dup (p.His611ProfsTer22)
c.1777dup (p.His593ProfsTer22)
c.1681dup (p.His561ProfsTer22)
c.1651dup (p.His551ProfsTer22)
c.1576dup (p.His526ProfsTer22)
c.1474dup (p.His492ProfsTer22)
c.1105dup (p.His369ProfsTer22)
5g.112835161C>ACA16025587APCc.1619C>A (n.1619C>A)
c.2008C>A (p.His670Asn)
c.*1960C>A (n.*1960C>A)
c.1900C>A (p.His634Asn)
c.1954C>A (p.His652Asn)
c.307C>A
c.643C>A (p.His215Asn)
c.*1276C>A (n.*1276C>A)
c.230+6189C>A
c.1984C>A (p.His662Asn)
c.1879C>A (p.His627Asn)
c.1870C>A (p.His624Asn)
c.1831C>A (p.His611Asn)
c.1777C>A (p.His593Asn)
c.1681C>A (p.His561Asn)
c.1651C>A (p.His551Asn)
c.1576C>A (p.His526Asn)
c.1474C>A (p.His492Asn)
c.1105C>A (p.His369Asn)
 dbSNP
5g.112835161C>GCA16025588APCc.1619C>G (n.1619C>G)
c.2008C>G (p.His670Asp)
c.*1960C>G (n.*1960C>G)
c.1900C>G (p.His634Asp)
c.1954C>G (p.His652Asp)
c.307C>G
c.643C>G (p.His215Asp)
c.*1276C>G (n.*1276C>G)
c.230+6189C>G
c.1984C>G (p.His662Asp)
c.1879C>G (p.His627Asp)
c.1870C>G (p.His624Asp)
c.1831C>G (p.His611Asp)
c.1777C>G (p.His593Asp)
c.1681C>G (p.His561Asp)
c.1651C>G (p.His551Asp)
c.1576C>G (p.His526Asp)
c.1474C>G (p.His492Asp)
c.1105C>G (p.His369Asp)
 dbSNP
5g.112835161C>TCA16025589APCc.1619C>T (n.1619C>T)
c.2008C>T (p.His670Tyr)
c.*1960C>T (n.*1960C>T)
c.1900C>T (p.His634Tyr)
c.1954C>T (p.His652Tyr)
c.307C>T
c.643C>T (p.His215Tyr)
c.*1276C>T (n.*1276C>T)
c.230+6189C>T
c.1984C>T (p.His662Tyr)
c.1879C>T (p.His627Tyr)
c.1870C>T (p.His624Tyr)
c.1831C>T (p.His611Tyr)
c.1777C>T (p.His593Tyr)
c.1681C>T (p.His561Tyr)
c.1651C>T (p.His551Tyr)
c.1576C>T (p.His526Tyr)
c.1474C>T (p.His492Tyr)
c.1105C>T (p.His369Tyr)
5g.112835161_112835180delCA658760631APCc.1619_1623+15del
c.2008_2012+15del
c.*1960_*1964+15del
c.1900_1904+15del
c.1954_1958+15del
c.307_311+15del
c.643_647+15del
c.*1276_*1280+15del
c.230+6189_230+6208del
c.1984_1988+15del
c.1879_1883+15del
c.1870_1874+15del
c.1831_1835+15del
c.1777_1781+15del
c.1681_1685+15del
c.1651_1655+15del
c.1576_1580+15del
c.1474_1478+15del
c.1105_1109+15del
5g.112835162A=CA1573471670APCc.1620A= (n.1620A=)
c.2009A= (p.His670=)
c.*1961A= (n.*1961A=)
c.1901A= (p.His634=)
c.1955A= (p.His652=)
c.308A=
c.644A= (p.His215=)
c.*1277A= (n.*1277A=)
c.230+6190A=
c.1985A= (p.His662=)
c.1880A= (p.His627=)
c.1871A= (p.His624=)
c.1832A= (p.His611=)
c.1778A= (p.His593=)
c.1682A= (p.His561=)
c.1652A= (p.His551=)
c.1577A= (p.His526=)
c.1475A= (p.His492=)
c.1106A= (p.His369=)
5g.112835162A>CCA16025590APCc.1620A>C (n.1620A>C)
c.2009A>C (p.His670Pro)
c.*1961A>C (n.*1961A>C)
c.1901A>C (p.His634Pro)
c.1955A>C (p.His652Pro)
c.308A>C
c.644A>C (p.His215Pro)
c.*1277A>C (n.*1277A>C)
c.230+6190A>C
c.1985A>C (p.His662Pro)
c.1880A>C (p.His627Pro)
c.1871A>C (p.His624Pro)
c.1832A>C (p.His611Pro)
c.1778A>C (p.His593Pro)
c.1682A>C (p.His561Pro)
c.1652A>C (p.His551Pro)
c.1577A>C (p.His526Pro)
c.1475A>C (p.His492Pro)
c.1106A>C (p.His369Pro)
 ClinVar dbSNP COSMIC
5g.112835162A>GCA029954APCc.1620A>G (n.1620A>G)
c.2009A>G (p.His670Arg)
c.*1961A>G (n.*1961A>G)
c.1901A>G (p.His634Arg)
c.1955A>G (p.His652Arg)
c.308A>G
c.644A>G (p.His215Arg)
c.*1277A>G (n.*1277A>G)
c.230+6190A>G
c.1985A>G (p.His662Arg)
c.1880A>G (p.His627Arg)
c.1871A>G (p.His624Arg)
c.1832A>G (p.His611Arg)
c.1778A>G (p.His593Arg)
c.1682A>G (p.His561Arg)
c.1652A>G (p.His551Arg)
c.1577A>G (p.His526Arg)
c.1475A>G (p.His492Arg)
c.1106A>G (p.His369Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.112835162A>TCA16025591APCc.1620A>T (n.1620A>T)
c.2009A>T (p.His670Leu)
c.*1961A>T (n.*1961A>T)
c.1901A>T (p.His634Leu)
c.1955A>T (p.His652Leu)
c.308A>T
c.644A>T (p.His215Leu)
c.*1277A>T (n.*1277A>T)
c.230+6190A>T
c.1985A>T (p.His662Leu)
c.1880A>T (p.His627Leu)
c.1871A>T (p.His624Leu)
c.1832A>T (p.His611Leu)
c.1778A>T (p.His593Leu)
c.1682A>T (p.His561Leu)
c.1652A>T (p.His551Leu)
c.1577A>T (p.His526Leu)
c.1475A>T (p.His492Leu)
c.1106A>T (p.His369Leu)
 dbSNP
5g.112835163C>ACA16025592APCc.1621C>A (n.1621C>A)
c.2010C>A (p.His670Gln)
c.*1962C>A (n.*1962C>A)
c.1902C>A (p.His634Gln)
c.1956C>A (p.His652Gln)
c.309C>A
c.645C>A (p.His215Gln)
c.*1278C>A (n.*1278C>A)
c.230+6191C>A
c.1986C>A (p.His662Gln)
c.1881C>A (p.His627Gln)
c.1872C>A (p.His624Gln)
c.1833C>A (p.His611Gln)
c.1779C>A (p.His593Gln)
c.1683C>A (p.His561Gln)
c.1653C>A (p.His551Gln)
c.1578C>A (p.His526Gln)
c.1476C>A (p.His492Gln)
c.1107C>A (p.His369Gln)
 dbSNP
5g.112835163C=CA1573471683APCc.1621C= (n.1621C=)
c.2010C= (p.His670=)
c.*1962C= (n.*1962C=)
c.1902C= (p.His634=)
c.1956C= (p.His652=)
c.309C=
c.645C= (p.His215=)
c.*1278C= (n.*1278C=)
c.230+6191C=
c.1986C= (p.His662=)
c.1881C= (p.His627=)
c.1872C= (p.His624=)
c.1833C= (p.His611=)
c.1779C= (p.His593=)
c.1683C= (p.His561=)
c.1653C= (p.His551=)
c.1578C= (p.His526=)
c.1476C= (p.His492=)
c.1107C= (p.His369=)
5g.112835163C>GCA16025593APCc.1621C>G (n.1621C>G)
c.2010C>G (p.His670Gln)
c.*1962C>G (n.*1962C>G)
c.1902C>G (p.His634Gln)
c.1956C>G (p.His652Gln)
c.309C>G
c.645C>G (p.His215Gln)
c.*1278C>G (n.*1278C>G)
c.230+6191C>G
c.1986C>G (p.His662Gln)
c.1881C>G (p.His627Gln)
c.1872C>G (p.His624Gln)
c.1833C>G (p.His611Gln)
c.1779C>G (p.His593Gln)
c.1683C>G (p.His561Gln)
c.1653C>G (p.His551Gln)
c.1578C>G (p.His526Gln)
c.1476C>G (p.His492Gln)
c.1107C>G (p.His369Gln)
 ClinVar dbSNP
5g.112835163C>TCA16618077APCc.1621C>T (n.1621C>T)
c.2010C>T (p.His670=)
c.*1962C>T (n.*1962C>T)
c.1902C>T (p.His634=)
c.1956C>T (p.His652=)
c.309C>T
c.645C>T (p.His215=)
c.*1278C>T (n.*1278C>T)
c.230+6191C>T
c.1986C>T (p.His662=)
c.1881C>T (p.His627=)
c.1872C>T (p.His624=)
c.1833C>T (p.His611=)
c.1779C>T (p.His593=)
c.1683C>T (p.His561=)
c.1653C>T (p.His551=)
c.1578C>T (p.His526=)
c.1476C>T (p.His492=)
c.1107C>T (p.His369=)
 ClinVar dbSNP COSMIC
5g.112835164A=CA1573471686APCc.1622A= (n.1622A=)
c.2011A= (p.Arg671=)
c.*1963A= (n.*1963A=)
c.1903A= (p.Arg635=)
c.1957A= (p.Arg653=)
c.310A=
c.646A= (p.Arg216=)
c.*1279A= (n.*1279A=)
c.230+6192A=
c.1987A= (p.Arg663=)
c.1882A= (p.Arg628=)
c.1873A= (p.Arg625=)
c.1834A= (p.Arg612=)
c.1780A= (p.Arg594=)
c.1684A= (p.Arg562=)
c.1654A= (p.Arg552=)
c.1579A= (p.Arg527=)
c.1477A= (p.Arg493=)
c.1108A= (p.Arg370=)
5g.112835164A>CCA445758951APCc.1622A>C (n.1622A>C)
c.2011A>C (p.Arg671=)
c.*1963A>C (n.*1963A>C)
c.1903A>C (p.Arg635=)
c.1957A>C (p.Arg653=)
c.310A>C
c.646A>C (p.Arg216=)
c.*1279A>C (n.*1279A>C)
c.230+6192A>C
c.1987A>C (p.Arg663=)
c.1882A>C (p.Arg628=)
c.1873A>C (p.Arg625=)
c.1834A>C (p.Arg612=)
c.1780A>C (p.Arg594=)
c.1684A>C (p.Arg562=)
c.1654A>C (p.Arg552=)
c.1579A>C (p.Arg527=)
c.1477A>C (p.Arg493=)
c.1108A>C (p.Arg370=)
 ClinVar dbSNP
5g.112835164A>GCA16025594APCc.1622A>G (n.1622A>G)
c.2011A>G (p.Arg671Gly)
c.*1963A>G (n.*1963A>G)
c.1903A>G (p.Arg635Gly)
c.1957A>G (p.Arg653Gly)
c.310A>G
c.646A>G (p.Arg216Gly)
c.*1279A>G (n.*1279A>G)
c.230+6192A>G
c.1987A>G (p.Arg663Gly)
c.1882A>G (p.Arg628Gly)
c.1873A>G (p.Arg625Gly)
c.1834A>G (p.Arg612Gly)
c.1780A>G (p.Arg594Gly)
c.1684A>G (p.Arg562Gly)
c.1654A>G (p.Arg552Gly)
c.1579A>G (p.Arg527Gly)
c.1477A>G (p.Arg493Gly)
c.1108A>G (p.Arg370Gly)
 ClinVar dbSNP COSMIC
5g.112835164A>TCA16025595APCc.1622A>T (n.1622A>T)
c.2011A>T (p.Arg671Trp)
c.*1963A>T (n.*1963A>T)
c.1903A>T (p.Arg635Trp)
c.1957A>T (p.Arg653Trp)
c.310A>T
c.646A>T (p.Arg216Trp)
c.*1279A>T (n.*1279A>T)
c.230+6192A>T
c.1987A>T (p.Arg663Trp)
c.1882A>T (p.Arg628Trp)
c.1873A>T (p.Arg625Trp)
c.1834A>T (p.Arg612Trp)
c.1780A>T (p.Arg594Trp)
c.1684A>T (p.Arg562Trp)
c.1654A>T (p.Arg552Trp)
c.1579A>T (p.Arg527Trp)
c.1477A>T (p.Arg493Trp)
c.1108A>T (p.Arg370Trp)
 dbSNP COSMIC
5g.112835166_112835177delCA891841961APCc.1623+1_1623+12del
c.2012+1_2012+12del
c.*1964+1_*1964+12del
c.1904+1_1904+12del
c.1958+1_1958+12del
c.311+1_311+12del
c.647+1_647+12del
c.*1280+1_*1280+12del
c.230+6194_230+6205del
c.1988+1_1988+12del
c.1883+1_1883+12del
c.1874+1_1874+12del
c.1835+1_1835+12del
c.1781+1_1781+12del
c.1685+1_1685+12del
c.1655+1_1655+12del
c.1580+1_1580+12del
c.1478+1_1478+12del
c.1109+1_1109+12del
5g.112835165G>ACA16025596APCc.1623G>A (n.1623G>A)
c.2012G>A (p.Arg671Lys)
c.*1964G>A (n.*1964G>A)
c.1904G>A (p.Arg635Lys)
c.1958G>A (p.Arg653Lys)
c.311G>A
c.647G>A (p.Arg216Lys)
c.*1280G>A (n.*1280G>A)
c.230+6193G>A
c.1988G>A (p.Arg663Lys)
c.1883G>A (p.Arg628Lys)
c.1874G>A (p.Arg625Lys)
c.1835G>A (p.Arg612Lys)
c.1781G>A (p.Arg594Lys)
c.1685G>A (p.Arg562Lys)
c.1655G>A (p.Arg552Lys)
c.1580G>A (p.Arg527Lys)
c.1478G>A (p.Arg493Lys)
c.1109G>A (p.Arg370Lys)
 ClinVar dbSNP COSMIC
5g.112835165G>CCA16025597APCc.1623G>C (n.1623G>C)
c.2012G>C (p.Arg671Thr)
c.*1964G>C (n.*1964G>C)
c.1904G>C (p.Arg635Thr)
c.1958G>C (p.Arg653Thr)
c.311G>C
c.647G>C (p.Arg216Thr)
c.*1280G>C (n.*1280G>C)
c.230+6193G>C
c.1988G>C (p.Arg663Thr)
c.1883G>C (p.Arg628Thr)
c.1874G>C (p.Arg625Thr)
c.1835G>C (p.Arg612Thr)
c.1781G>C (p.Arg594Thr)
c.1685G>C (p.Arg562Thr)
c.1655G>C (p.Arg552Thr)
c.1580G>C (p.Arg527Thr)
c.1478G>C (p.Arg493Thr)
c.1109G>C (p.Arg370Thr)
 ClinVar dbSNP
5g.112835165G=CA1139532122APCc.1623G= (n.1623G=)
c.2012G= (p.Arg671=)
c.*1964G= (n.*1964G=)
c.1904G= (p.Arg635=)
c.1958G= (p.Arg653=)
c.311G=
c.647G= (p.Arg216=)
c.*1280G= (n.*1280G=)
c.230+6193G=
c.1988G= (p.Arg663=)
c.1883G= (p.Arg628=)
c.1874G= (p.Arg625=)
c.1835G= (p.Arg612=)
c.1781G= (p.Arg594=)
c.1685G= (p.Arg562=)
c.1655G= (p.Arg552=)
c.1580G= (p.Arg527=)
c.1478G= (p.Arg493=)
c.1109G= (p.Arg370=)
5g.112835165G>TCA16025598APCc.1623G>T (n.1623G>T)
c.2012G>T (p.Arg671Met)
c.*1964G>T (n.*1964G>T)
c.1904G>T (p.Arg635Met)
c.1958G>T (p.Arg653Met)
c.311G>T
c.647G>T (p.Arg216Met)
c.*1280G>T (n.*1280G>T)
c.230+6193G>T
c.1988G>T (p.Arg663Met)
c.1883G>T (p.Arg628Met)
c.1874G>T (p.Arg625Met)
c.1835G>T (p.Arg612Met)
c.1781G>T (p.Arg594Met)
c.1685G>T (p.Arg562Met)
c.1655G>T (p.Arg552Met)
c.1580G>T (p.Arg527Met)
c.1478G>T (p.Arg493Met)
c.1109G>T (p.Arg370Met)
 ClinVar dbSNP COSMIC
5g.112835166delCA658760636APCc.1623+1del
c.2012+1del
c.*1964+1del
c.1904+1del
c.1958+1del
c.311+1del
c.647+1del
c.*1280+1del
c.230+6194del
c.1988+1del
c.1883+1del
c.1874+1del
c.1835+1del
c.1781+1del
c.1685+1del
c.1655+1del
c.1580+1del
c.1478+1del
c.1109+1del
 ClinVar
5g.112835165_112835166insTCA2582341382APCc.1623_1623+1insT (n.1623_1623+1insT)
c.2012_2012+1insT (n.2012_2012+1insT)
c.*1964_*1964+1insT (n.*1964_*1964+1insT)
c.1904_1904+1insT (n.1904_1904+1insT)
c.1958_1958+1insT (n.1958_1958+1insT)
c.311_311+1insT
c.647_647+1insT (n.647_647+1insT)
c.*1280_*1280+1insT (n.*1280_*1280+1insT)
c.230+6193_230+6194insT
c.1988_1988+1insT (n.1988_1988+1insT)
c.1883_1883+1insT (n.1883_1883+1insT)
c.1874_1874+1insT (n.1874_1874+1insT)
c.1835_1835+1insT (n.1835_1835+1insT)
c.1781_1781+1insT (n.1781_1781+1insT)
c.1685_1685+1insT (n.1685_1685+1insT)
c.1655_1655+1insT (n.1655_1655+1insT)
c.1580_1580+1insT (n.1580_1580+1insT)
c.1478_1478+1insT (n.1478_1478+1insT)
c.1109_1109+1insT (n.1109_1109+1insT)
 ClinVar
5g.112835166G>ACA360623916APCc.1623+1G>A (n.1623+1G>A)
c.2012+1G>A (n.2012+1G>A)
c.*1964+1G>A (n.*1964+1G>A)
c.1904+1G>A (n.1904+1G>A)
c.1958+1G>A (n.1958+1G>A)
c.311+1G>A
c.647+1G>A (n.647+1G>A)
c.*1280+1G>A (n.*1280+1G>A)
c.230+6194G>A
c.1988+1G>A (n.1988+1G>A)
c.1883+1G>A (n.1883+1G>A)
c.1874+1G>A (n.1874+1G>A)
c.1835+1G>A (n.1835+1G>A)
c.1781+1G>A (n.1781+1G>A)
c.1685+1G>A (n.1685+1G>A)
c.1655+1G>A (n.1655+1G>A)
c.1580+1G>A (n.1580+1G>A)
c.1478+1G>A (n.1478+1G>A)
c.1109+1G>A (n.1109+1G>A)
 ClinVar dbSNP COSMIC
5g.112835166G>CCA360623921APCc.1623+1G>C (n.1623+1G>C)
c.2012+1G>C (n.2012+1G>C)
c.*1964+1G>C (n.*1964+1G>C)
c.1904+1G>C (n.1904+1G>C)
c.1958+1G>C (n.1958+1G>C)
c.311+1G>C
c.647+1G>C (n.647+1G>C)
c.*1280+1G>C (n.*1280+1G>C)
c.230+6194G>C
c.1988+1G>C (n.1988+1G>C)
c.1883+1G>C (n.1883+1G>C)
c.1874+1G>C (n.1874+1G>C)
c.1835+1G>C (n.1835+1G>C)
c.1781+1G>C (n.1781+1G>C)
c.1685+1G>C (n.1685+1G>C)
c.1655+1G>C (n.1655+1G>C)
c.1580+1G>C (n.1580+1G>C)
c.1478+1G>C (n.1478+1G>C)
c.1109+1G>C (n.1109+1G>C)
 COSMIC
5g.112835166G=CA1573471716APCc.1623+1G= (n.1623+1G=)
c.2012+1G= (n.2012+1G=)
c.*1964+1G= (n.*1964+1G=)
c.1904+1G= (n.1904+1G=)
c.1958+1G= (n.1958+1G=)
c.311+1G=
c.647+1G= (n.647+1G=)
c.*1280+1G= (n.*1280+1G=)
c.230+6194G=
c.1988+1G= (n.1988+1G=)
c.1883+1G= (n.1883+1G=)
c.1874+1G= (n.1874+1G=)
c.1835+1G= (n.1835+1G=)
c.1781+1G= (n.1781+1G=)
c.1685+1G= (n.1685+1G=)
c.1655+1G= (n.1655+1G=)
c.1580+1G= (n.1580+1G=)
c.1478+1G= (n.1478+1G=)
c.1109+1G= (n.1109+1G=)
5g.112835166G>TCA360623923APCc.1623+1G>T (n.1623+1G>T)
c.2012+1G>T (n.2012+1G>T)
c.*1964+1G>T (n.*1964+1G>T)
c.1904+1G>T (n.1904+1G>T)
c.1958+1G>T (n.1958+1G>T)
c.311+1G>T
c.647+1G>T (n.647+1G>T)
c.*1280+1G>T (n.*1280+1G>T)
c.230+6194G>T
c.1988+1G>T (n.1988+1G>T)
c.1883+1G>T (n.1883+1G>T)
c.1874+1G>T (n.1874+1G>T)
c.1835+1G>T (n.1835+1G>T)
c.1781+1G>T (n.1781+1G>T)
c.1685+1G>T (n.1685+1G>T)
c.1655+1G>T (n.1655+1G>T)
c.1580+1G>T (n.1580+1G>T)
c.1478+1G>T (n.1478+1G>T)
c.1109+1G>T (n.1109+1G>T)
 ClinVar gnomAD v4
5g.112835166_112835167dupCA658683034APCc.1623+1_1623+2dup (n.1623+1_1623+2dup)
c.2012+1_2012+2dup (n.2012+1_2012+2dup)
c.*1964+1_*1964+2dup (n.*1964+1_*1964+2dup)
c.1904+1_1904+2dup (n.1904+1_1904+2dup)
c.1958+1_1958+2dup (n.1958+1_1958+2dup)
c.311+1_311+2dup
c.647+1_647+2dup (n.647+1_647+2dup)
c.*1280+1_*1280+2dup (n.*1280+1_*1280+2dup)
c.230+6194_230+6195dup
c.1988+1_1988+2dup (n.1988+1_1988+2dup)
c.1883+1_1883+2dup (n.1883+1_1883+2dup)
c.1874+1_1874+2dup (n.1874+1_1874+2dup)
c.1835+1_1835+2dup (n.1835+1_1835+2dup)
c.1781+1_1781+2dup (n.1781+1_1781+2dup)
c.1685+1_1685+2dup (n.1685+1_1685+2dup)
c.1655+1_1655+2dup (n.1655+1_1655+2dup)
c.1580+1_1580+2dup (n.1580+1_1580+2dup)
c.1478+1_1478+2dup (n.1478+1_1478+2dup)
c.1109+1_1109+2dup (n.1109+1_1109+2dup)
 ClinVar dbSNP
5g.112835166_112835169dupCA16611632APCc.1623+1_1623+4dup (n.1623+1_1623+4dup)
c.2012+1_2012+4dup (n.2012+1_2012+4dup)
c.*1964+1_*1964+4dup (n.*1964+1_*1964+4dup)
c.1904+1_1904+4dup (n.1904+1_1904+4dup)
c.1958+1_1958+4dup (n.1958+1_1958+4dup)
c.311+1_311+4dup
c.647+1_647+4dup (n.647+1_647+4dup)
c.*1280+1_*1280+4dup (n.*1280+1_*1280+4dup)
c.230+6194_230+6197dup
c.1988+1_1988+4dup (n.1988+1_1988+4dup)
c.1883+1_1883+4dup (n.1883+1_1883+4dup)
c.1874+1_1874+4dup (n.1874+1_1874+4dup)
c.1835+1_1835+4dup (n.1835+1_1835+4dup)
c.1781+1_1781+4dup (n.1781+1_1781+4dup)
c.1685+1_1685+4dup (n.1685+1_1685+4dup)
c.1655+1_1655+4dup (n.1655+1_1655+4dup)
c.1580+1_1580+4dup (n.1580+1_1580+4dup)
c.1478+1_1478+4dup (n.1478+1_1478+4dup)
c.1109+1_1109+4dup (n.1109+1_1109+4dup)
 ClinVar dbSNP
5g.112835167T>ACA360623929APCc.1623+2T>A (n.1623+2T>A)
c.2012+2T>A (n.2012+2T>A)
c.*1964+2T>A (n.*1964+2T>A)
c.1904+2T>A (n.1904+2T>A)
c.1958+2T>A (n.1958+2T>A)
c.311+2T>A
c.647+2T>A (n.647+2T>A)
c.*1280+2T>A (n.*1280+2T>A)
c.230+6195T>A
c.1988+2T>A (n.1988+2T>A)
c.1883+2T>A (n.1883+2T>A)
c.1874+2T>A (n.1874+2T>A)
c.1835+2T>A (n.1835+2T>A)
c.1781+2T>A (n.1781+2T>A)
c.1685+2T>A (n.1685+2T>A)
c.1655+2T>A (n.1655+2T>A)
c.1580+2T>A (n.1580+2T>A)
c.1478+2T>A (n.1478+2T>A)
c.1109+2T>A (n.1109+2T>A)
 ClinVar dbSNP
5g.112835167T>CCA360623927APCc.1623+2T>C (n.1623+2T>C)
c.2012+2T>C (n.2012+2T>C)
c.*1964+2T>C (n.*1964+2T>C)
c.1904+2T>C (n.1904+2T>C)
c.1958+2T>C (n.1958+2T>C)
c.311+2T>C
c.647+2T>C (n.647+2T>C)
c.*1280+2T>C (n.*1280+2T>C)
c.230+6195T>C
c.1988+2T>C (n.1988+2T>C)
c.1883+2T>C (n.1883+2T>C)
c.1874+2T>C (n.1874+2T>C)
c.1835+2T>C (n.1835+2T>C)
c.1781+2T>C (n.1781+2T>C)
c.1685+2T>C (n.1685+2T>C)
c.1655+2T>C (n.1655+2T>C)
c.1580+2T>C (n.1580+2T>C)
c.1478+2T>C (n.1478+2T>C)
c.1109+2T>C (n.1109+2T>C)
 ClinVar COSMIC
5g.112835167T>GCA360623925APCc.1623+2T>G (n.1623+2T>G)
c.2012+2T>G (n.2012+2T>G)
c.*1964+2T>G (n.*1964+2T>G)
c.1904+2T>G (n.1904+2T>G)
c.1958+2T>G (n.1958+2T>G)
c.311+2T>G
c.647+2T>G (n.647+2T>G)
c.*1280+2T>G (n.*1280+2T>G)
c.230+6195T>G
c.1988+2T>G (n.1988+2T>G)
c.1883+2T>G (n.1883+2T>G)
c.1874+2T>G (n.1874+2T>G)
c.1835+2T>G (n.1835+2T>G)
c.1781+2T>G (n.1781+2T>G)
c.1685+2T>G (n.1685+2T>G)
c.1655+2T>G (n.1655+2T>G)
c.1580+2T>G (n.1580+2T>G)
c.1478+2T>G (n.1478+2T>G)
c.1109+2T>G (n.1109+2T>G)
 ClinVar dbSNP
5g.112835173_112835174dupCA029999APCc.1623+8_1623+9dup (n.1623+8_1623+9dup)
c.2012+8_2012+9dup (n.2012+8_2012+9dup)
c.*1964+8_*1964+9dup (n.*1964+8_*1964+9dup)
c.1904+8_1904+9dup (n.1904+8_1904+9dup)
c.1958+8_1958+9dup (n.1958+8_1958+9dup)
c.311+8_311+9dup
c.647+8_647+9dup (n.647+8_647+9dup)
c.*1280+8_*1280+9dup (n.*1280+8_*1280+9dup)
c.230+6201_230+6202dup
c.1988+8_1988+9dup (n.1988+8_1988+9dup)
c.1883+8_1883+9dup (n.1883+8_1883+9dup)
c.1874+8_1874+9dup (n.1874+8_1874+9dup)
c.1835+8_1835+9dup (n.1835+8_1835+9dup)
c.1781+8_1781+9dup (n.1781+8_1781+9dup)
c.1685+8_1685+9dup (n.1685+8_1685+9dup)
c.1655+8_1655+9dup (n.1655+8_1655+9dup)
c.1580+8_1580+9dup (n.1580+8_1580+9dup)
c.1478+8_1478+9dup (n.1478+8_1478+9dup)
c.1109+8_1109+9dup (n.1109+8_1109+9dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.112835168A=CA1573471741APCc.1623+3A= (n.1623+3A=)
c.2012+3A= (n.2012+3A=)
c.*1964+3A= (n.*1964+3A=)
c.1904+3A= (n.1904+3A=)
c.1958+3A= (n.1958+3A=)
c.311+3A=
c.647+3A= (n.647+3A=)
c.*1280+3A= (n.*1280+3A=)
c.230+6196A=
c.1988+3A= (n.1988+3A=)
c.1883+3A= (n.1883+3A=)
c.1874+3A= (n.1874+3A=)
c.1835+3A= (n.1835+3A=)
c.1781+3A= (n.1781+3A=)
c.1685+3A= (n.1685+3A=)
c.1655+3A= (n.1655+3A=)
c.1580+3A= (n.1580+3A=)
c.1478+3A= (n.1478+3A=)
c.1109+3A= (n.1109+3A=)
5g.112835168A>CCA658760646APCc.1623+3A>C (n.1623+3A>C)
c.2012+3A>C (n.2012+3A>C)
c.*1964+3A>C (n.*1964+3A>C)
c.1904+3A>C (n.1904+3A>C)
c.1958+3A>C (n.1958+3A>C)
c.311+3A>C
c.647+3A>C (n.647+3A>C)
c.*1280+3A>C (n.*1280+3A>C)
c.230+6196A>C
c.1988+3A>C (n.1988+3A>C)
c.1883+3A>C (n.1883+3A>C)
c.1874+3A>C (n.1874+3A>C)
c.1835+3A>C (n.1835+3A>C)
c.1781+3A>C (n.1781+3A>C)
c.1685+3A>C (n.1685+3A>C)
c.1655+3A>C (n.1655+3A>C)
c.1580+3A>C (n.1580+3A>C)
c.1478+3A>C (n.1478+3A>C)
c.1109+3A>C (n.1109+3A>C)
5g.112835168A>GCA10584242APCc.1623+3A>G (n.1623+3A>G)
c.2012+3A>G (n.2012+3A>G)
c.*1964+3A>G (n.*1964+3A>G)
c.1904+3A>G (n.1904+3A>G)
c.1958+3A>G (n.1958+3A>G)
c.311+3A>G
c.647+3A>G (n.647+3A>G)
c.*1280+3A>G (n.*1280+3A>G)
c.230+6196A>G
c.1988+3A>G (n.1988+3A>G)
c.1883+3A>G (n.1883+3A>G)
c.1874+3A>G (n.1874+3A>G)
c.1835+3A>G (n.1835+3A>G)
c.1781+3A>G (n.1781+3A>G)
c.1685+3A>G (n.1685+3A>G)
c.1655+3A>G (n.1655+3A>G)
c.1580+3A>G (n.1580+3A>G)
c.1478+3A>G (n.1478+3A>G)
c.1109+3A>G (n.1109+3A>G)
 ClinVar dbSNP
5g.112835168A>TCA10588383APCc.1623+3A>T (n.1623+3A>T)
c.2012+3A>T (n.2012+3A>T)
c.*1964+3A>T (n.*1964+3A>T)
c.1904+3A>T (n.1904+3A>T)
c.1958+3A>T (n.1958+3A>T)
c.311+3A>T
c.647+3A>T (n.647+3A>T)
c.*1280+3A>T (n.*1280+3A>T)
c.230+6196A>T
c.1988+3A>T (n.1988+3A>T)
c.1883+3A>T (n.1883+3A>T)
c.1874+3A>T (n.1874+3A>T)
c.1835+3A>T (n.1835+3A>T)
c.1781+3A>T (n.1781+3A>T)
c.1685+3A>T (n.1685+3A>T)
c.1655+3A>T (n.1655+3A>T)
c.1580+3A>T (n.1580+3A>T)
c.1478+3A>T (n.1478+3A>T)
c.1109+3A>T (n.1109+3A>T)
 ClinVar dbSNP
5g.112835169T>ACA2709760348APCc.1623+4T>A (n.1623+4T>A)
c.2012+4T>A (n.2012+4T>A)
c.*1964+4T>A (n.*1964+4T>A)
c.1904+4T>A (n.1904+4T>A)
c.1958+4T>A (n.1958+4T>A)
c.311+4T>A
c.647+4T>A (n.647+4T>A)
c.*1280+4T>A (n.*1280+4T>A)
c.230+6197T>A
c.1988+4T>A (n.1988+4T>A)
c.1883+4T>A (n.1883+4T>A)
c.1874+4T>A (n.1874+4T>A)
c.1835+4T>A (n.1835+4T>A)
c.1781+4T>A (n.1781+4T>A)
c.1685+4T>A (n.1685+4T>A)
c.1655+4T>A (n.1655+4T>A)
c.1580+4T>A (n.1580+4T>A)
c.1478+4T>A (n.1478+4T>A)
c.1109+4T>A (n.1109+4T>A)
 dbSNP
5g.112835169T>CCA562217595APCc.1623+4T>C (n.1623+4T>C)
c.2012+4T>C (n.2012+4T>C)
c.*1964+4T>C (n.*1964+4T>C)
c.1904+4T>C (n.1904+4T>C)
c.1958+4T>C (n.1958+4T>C)
c.311+4T>C
c.647+4T>C (n.647+4T>C)
c.*1280+4T>C (n.*1280+4T>C)
c.230+6197T>C
c.1988+4T>C (n.1988+4T>C)
c.1883+4T>C (n.1883+4T>C)
c.1874+4T>C (n.1874+4T>C)
c.1835+4T>C (n.1835+4T>C)
c.1781+4T>C (n.1781+4T>C)
c.1685+4T>C (n.1685+4T>C)
c.1655+4T>C (n.1655+4T>C)
c.1580+4T>C (n.1580+4T>C)
c.1478+4T>C (n.1478+4T>C)
c.1109+4T>C (n.1109+4T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.112835169T=CA1573471753APCc.1623+4T= (n.1623+4T=)
c.2012+4T= (n.2012+4T=)
c.*1964+4T= (n.*1964+4T=)
c.1904+4T= (n.1904+4T=)
c.1958+4T= (n.1958+4T=)
c.311+4T=
c.647+4T= (n.647+4T=)
c.*1280+4T= (n.*1280+4T=)
c.230+6197T=
c.1988+4T= (n.1988+4T=)
c.1883+4T= (n.1883+4T=)
c.1874+4T= (n.1874+4T=)
c.1835+4T= (n.1835+4T=)
c.1781+4T= (n.1781+4T=)
c.1685+4T= (n.1685+4T=)
c.1655+4T= (n.1655+4T=)
c.1580+4T= (n.1580+4T=)
c.1478+4T= (n.1478+4T=)
c.1109+4T= (n.1109+4T=)
5g.112835169_112835170delinsTACA1573471748APCc.1623+4_1623+5delinsTA (n.1623+4_1623+5delinsTA)
c.2012+4_2012+5delinsTA (n.2012+4_2012+5delinsTA)
c.*1964+4_*1964+5delinsTA (n.*1964+4_*1964+5delinsTA)
c.1904+4_1904+5delinsTA (n.1904+4_1904+5delinsTA)
c.1958+4_1958+5delinsTA (n.1958+4_1958+5delinsTA)
c.311+4_311+5delinsTA
c.647+4_647+5delinsTA (n.647+4_647+5delinsTA)
c.*1280+4_*1280+5delinsTA (n.*1280+4_*1280+5delinsTA)
c.230+6197_230+6198delinsTA
c.1988+4_1988+5delinsTA (n.1988+4_1988+5delinsTA)
c.1883+4_1883+5delinsTA (n.1883+4_1883+5delinsTA)
c.1874+4_1874+5delinsTA (n.1874+4_1874+5delinsTA)
c.1835+4_1835+5delinsTA (n.1835+4_1835+5delinsTA)
c.1781+4_1781+5delinsTA (n.1781+4_1781+5delinsTA)
c.1685+4_1685+5delinsTA (n.1685+4_1685+5delinsTA)
c.1655+4_1655+5delinsTA (n.1655+4_1655+5delinsTA)
c.1580+4_1580+5delinsTA (n.1580+4_1580+5delinsTA)
c.1478+4_1478+5delinsTA (n.1478+4_1478+5delinsTA)
c.1109+4_1109+5delinsTA (n.1109+4_1109+5delinsTA)
5g.112835170delCA1573471759APCc.1623+5del (n.1623+5del)
c.2012+5del (n.2012+5del)
c.*1964+5del (n.*1964+5del)
c.1904+5del (n.1904+5del)
c.1958+5del (n.1958+5del)
c.311+5del
c.647+5del (n.647+5del)
c.*1280+5del (n.*1280+5del)
c.230+6198del
c.1988+5del (n.1988+5del)
c.1883+5del (n.1883+5del)
c.1874+5del (n.1874+5del)
c.1835+5del (n.1835+5del)
c.1781+5del (n.1781+5del)
c.1685+5del (n.1685+5del)
c.1655+5del (n.1655+5del)
c.1580+5del (n.1580+5del)
c.1478+5del (n.1478+5del)
c.1109+5del (n.1109+5del)
 ClinVar dbSNP gnomAD v4
5g.112835170A=CA1573471760APCc.1623+5A= (n.1623+5A=)
c.2012+5A= (n.2012+5A=)
c.*1964+5A= (n.*1964+5A=)
c.1904+5A= (n.1904+5A=)
c.1958+5A= (n.1958+5A=)
c.311+5A=
c.647+5A= (n.647+5A=)
c.*1280+5A= (n.*1280+5A=)
c.230+6198A=
c.1988+5A= (n.1988+5A=)
c.1883+5A= (n.1883+5A=)
c.1874+5A= (n.1874+5A=)
c.1835+5A= (n.1835+5A=)
c.1781+5A= (n.1781+5A=)
c.1685+5A= (n.1685+5A=)
c.1655+5A= (n.1655+5A=)
c.1580+5A= (n.1580+5A=)
c.1478+5A= (n.1478+5A=)
c.1109+5A= (n.1109+5A=)
5g.112835170A>CCA915942609APCc.1623+5A>C (n.1623+5A>C)
c.2012+5A>C (n.2012+5A>C)
c.*1964+5A>C (n.*1964+5A>C)
c.1904+5A>C (n.1904+5A>C)
c.1958+5A>C (n.1958+5A>C)
c.311+5A>C
c.647+5A>C (n.647+5A>C)
c.*1280+5A>C (n.*1280+5A>C)
c.230+6198A>C
c.1988+5A>C (n.1988+5A>C)
c.1883+5A>C (n.1883+5A>C)
c.1874+5A>C (n.1874+5A>C)
c.1835+5A>C (n.1835+5A>C)
c.1781+5A>C (n.1781+5A>C)
c.1685+5A>C (n.1685+5A>C)
c.1655+5A>C (n.1655+5A>C)
c.1580+5A>C (n.1580+5A>C)
c.1478+5A>C (n.1478+5A>C)
c.1109+5A>C (n.1109+5A>C)
 ClinVar dbSNP
5g.112835170A>GCA030218APCc.1623+5A>G (n.1623+5A>G)
c.2012+5A>G (n.2012+5A>G)
c.*1964+5A>G (n.*1964+5A>G)
c.1904+5A>G (n.1904+5A>G)
c.1958+5A>G (n.1958+5A>G)
c.311+5A>G
c.647+5A>G (n.647+5A>G)
c.*1280+5A>G (n.*1280+5A>G)
c.230+6198A>G
c.1988+5A>G (n.1988+5A>G)
c.1883+5A>G (n.1883+5A>G)
c.1874+5A>G (n.1874+5A>G)
c.1835+5A>G (n.1835+5A>G)
c.1781+5A>G (n.1781+5A>G)
c.1685+5A>G (n.1685+5A>G)
c.1655+5A>G (n.1655+5A>G)
c.1580+5A>G (n.1580+5A>G)
c.1478+5A>G (n.1478+5A>G)
c.1109+5A>G (n.1109+5A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112835171T>ACA2709723416APCc.1623+6T>A (n.1623+6T>A)
c.2012+6T>A (n.2012+6T>A)
c.*1964+6T>A (n.*1964+6T>A)
c.1904+6T>A (n.1904+6T>A)
c.1958+6T>A (n.1958+6T>A)
c.311+6T>A
c.647+6T>A (n.647+6T>A)
c.*1280+6T>A (n.*1280+6T>A)
c.230+6199T>A
c.1988+6T>A (n.1988+6T>A)
c.1883+6T>A (n.1883+6T>A)
c.1874+6T>A (n.1874+6T>A)
c.1835+6T>A (n.1835+6T>A)
c.1781+6T>A (n.1781+6T>A)
c.1685+6T>A (n.1685+6T>A)
c.1655+6T>A (n.1655+6T>A)
c.1580+6T>A (n.1580+6T>A)
c.1478+6T>A (n.1478+6T>A)
c.1109+6T>A (n.1109+6T>A)
 dbSNP
5g.112835171T>CCA030238APCc.1623+6T>C (n.1623+6T>C)
c.2012+6T>C (n.2012+6T>C)
c.*1964+6T>C (n.*1964+6T>C)
c.1904+6T>C (n.1904+6T>C)
c.1958+6T>C (n.1958+6T>C)
c.311+6T>C
c.647+6T>C (n.647+6T>C)
c.*1280+6T>C (n.*1280+6T>C)
c.230+6199T>C
c.1988+6T>C (n.1988+6T>C)
c.1883+6T>C (n.1883+6T>C)
c.1874+6T>C (n.1874+6T>C)
c.1835+6T>C (n.1835+6T>C)
c.1781+6T>C (n.1781+6T>C)
c.1685+6T>C (n.1685+6T>C)
c.1655+6T>C (n.1655+6T>C)
c.1580+6T>C (n.1580+6T>C)
c.1478+6T>C (n.1478+6T>C)
c.1109+6T>C (n.1109+6T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112835171T=CA1573471768APCc.1623+6T= (n.1623+6T=)
c.2012+6T= (n.2012+6T=)
c.*1964+6T= (n.*1964+6T=)
c.1904+6T= (n.1904+6T=)
c.1958+6T= (n.1958+6T=)
c.311+6T=
c.647+6T= (n.647+6T=)
c.*1280+6T= (n.*1280+6T=)
c.230+6199T=
c.1988+6T= (n.1988+6T=)
c.1883+6T= (n.1883+6T=)
c.1874+6T= (n.1874+6T=)
c.1835+6T= (n.1835+6T=)
c.1781+6T= (n.1781+6T=)
c.1685+6T= (n.1685+6T=)
c.1655+6T= (n.1655+6T=)
c.1580+6T= (n.1580+6T=)
c.1478+6T= (n.1478+6T=)
c.1109+6T= (n.1109+6T=)
5g.112835172A=CA1573471773APCc.1623+7A= (n.1623+7A=)
c.2012+7A= (n.2012+7A=)
c.*1964+7A= (n.*1964+7A=)
c.1904+7A= (n.1904+7A=)
c.1958+7A= (n.1958+7A=)
c.311+7A=
c.647+7A= (n.647+7A=)
c.*1280+7A= (n.*1280+7A=)
c.230+6200A=
c.1988+7A= (n.1988+7A=)
c.1883+7A= (n.1883+7A=)
c.1874+7A= (n.1874+7A=)
c.1835+7A= (n.1835+7A=)
c.1781+7A= (n.1781+7A=)
c.1685+7A= (n.1685+7A=)
c.1655+7A= (n.1655+7A=)
c.1580+7A= (n.1580+7A=)
c.1478+7A= (n.1478+7A=)
c.1109+7A= (n.1109+7A=)
5g.112835172A>GCA16604656APCc.1623+7A>G (n.1623+7A>G)
c.2012+7A>G (n.2012+7A>G)
c.*1964+7A>G (n.*1964+7A>G)
c.1904+7A>G (n.1904+7A>G)
c.1958+7A>G (n.1958+7A>G)
c.311+7A>G
c.647+7A>G (n.647+7A>G)
c.*1280+7A>G (n.*1280+7A>G)
c.230+6200A>G
c.1988+7A>G (n.1988+7A>G)
c.1883+7A>G (n.1883+7A>G)
c.1874+7A>G (n.1874+7A>G)
c.1835+7A>G (n.1835+7A>G)
c.1781+7A>G (n.1781+7A>G)
c.1685+7A>G (n.1685+7A>G)
c.1655+7A>G (n.1655+7A>G)
c.1580+7A>G (n.1580+7A>G)
c.1478+7A>G (n.1478+7A>G)
c.1109+7A>G (n.1109+7A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.112835172A>TCA2709743361APCc.1623+7A>T (n.1623+7A>T)
c.2012+7A>T (n.2012+7A>T)
c.*1964+7A>T (n.*1964+7A>T)
c.1904+7A>T (n.1904+7A>T)
c.1958+7A>T (n.1958+7A>T)
c.311+7A>T
c.647+7A>T (n.647+7A>T)
c.*1280+7A>T (n.*1280+7A>T)
c.230+6200A>T
c.1988+7A>T (n.1988+7A>T)
c.1883+7A>T (n.1883+7A>T)
c.1874+7A>T (n.1874+7A>T)
c.1835+7A>T (n.1835+7A>T)
c.1781+7A>T (n.1781+7A>T)
c.1685+7A>T (n.1685+7A>T)
c.1655+7A>T (n.1655+7A>T)
c.1580+7A>T (n.1580+7A>T)
c.1478+7A>T (n.1478+7A>T)
c.1109+7A>T (n.1109+7A>T)
 dbSNP
5g.112835172_112835175delinsATAGCA1573471771APCc.1623+7_1623+10delinsATAG (n.1623+7_1623+10delinsATAG)
c.2012+7_2012+10delinsATAG (n.2012+7_2012+10delinsATAG)
c.*1964+7_*1964+10delinsATAG (n.*1964+7_*1964+10delinsATAG)
c.1904+7_1904+10delinsATAG (n.1904+7_1904+10delinsATAG)
c.1958+7_1958+10delinsATAG (n.1958+7_1958+10delinsATAG)
c.311+7_311+10delinsATAG
c.647+7_647+10delinsATAG (n.647+7_647+10delinsATAG)
c.*1280+7_*1280+10delinsATAG (n.*1280+7_*1280+10delinsATAG)
c.230+6200_230+6203delinsATAG
c.1988+7_1988+10delinsATAG (n.1988+7_1988+10delinsATAG)
c.1883+7_1883+10delinsATAG (n.1883+7_1883+10delinsATAG)
c.1874+7_1874+10delinsATAG (n.1874+7_1874+10delinsATAG)
c.1835+7_1835+10delinsATAG (n.1835+7_1835+10delinsATAG)
c.1781+7_1781+10delinsATAG (n.1781+7_1781+10delinsATAG)
c.1685+7_1685+10delinsATAG (n.1685+7_1685+10delinsATAG)
c.1655+7_1655+10delinsATAG (n.1655+7_1655+10delinsATAG)
c.1580+7_1580+10delinsATAG (n.1580+7_1580+10delinsATAG)
c.1478+7_1478+10delinsATAG (n.1478+7_1478+10delinsATAG)
c.1109+7_1109+10delinsATAG (n.1109+7_1109+10delinsATAG)
5g.112835173T>ACA2580590856APCc.1623+8T>A (n.1623+8T>A)
c.2012+8T>A (n.2012+8T>A)
c.*1964+8T>A (n.*1964+8T>A)
c.1904+8T>A (n.1904+8T>A)
c.1958+8T>A (n.1958+8T>A)
c.311+8T>A
c.647+8T>A (n.647+8T>A)
c.*1280+8T>A (n.*1280+8T>A)
c.230+6201T>A
c.1988+8T>A (n.1988+8T>A)
c.1883+8T>A (n.1883+8T>A)
c.1874+8T>A (n.1874+8T>A)
c.1835+8T>A (n.1835+8T>A)
c.1781+8T>A (n.1781+8T>A)
c.1685+8T>A (n.1685+8T>A)
c.1655+8T>A (n.1655+8T>A)
c.1580+8T>A (n.1580+8T>A)
c.1478+8T>A (n.1478+8T>A)
c.1109+8T>A (n.1109+8T>A)
5g.112835173T>CCA006765APCc.1623+8T>C (n.1623+8T>C)
c.2012+8T>C (n.2012+8T>C)
c.*1964+8T>C (n.*1964+8T>C)
c.1904+8T>C (n.1904+8T>C)
c.1958+8T>C (n.1958+8T>C)
c.311+8T>C
c.647+8T>C (n.647+8T>C)
c.*1280+8T>C (n.*1280+8T>C)
c.230+6201T>C
c.1988+8T>C (n.1988+8T>C)
c.1883+8T>C (n.1883+8T>C)
c.1874+8T>C (n.1874+8T>C)
c.1835+8T>C (n.1835+8T>C)
c.1781+8T>C (n.1781+8T>C)
c.1685+8T>C (n.1685+8T>C)
c.1655+8T>C (n.1655+8T>C)
c.1580+8T>C (n.1580+8T>C)
c.1478+8T>C (n.1478+8T>C)
c.1109+8T>C (n.1109+8T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112835173T>GCA2580590857APCc.1623+8T>G (n.1623+8T>G)
c.2012+8T>G (n.2012+8T>G)
c.*1964+8T>G (n.*1964+8T>G)
c.1904+8T>G (n.1904+8T>G)
c.1958+8T>G (n.1958+8T>G)
c.311+8T>G
c.647+8T>G (n.647+8T>G)
c.*1280+8T>G (n.*1280+8T>G)
c.230+6201T>G
c.1988+8T>G (n.1988+8T>G)
c.1883+8T>G (n.1883+8T>G)
c.1874+8T>G (n.1874+8T>G)
c.1835+8T>G (n.1835+8T>G)
c.1781+8T>G (n.1781+8T>G)
c.1685+8T>G (n.1685+8T>G)
c.1655+8T>G (n.1655+8T>G)
c.1580+8T>G (n.1580+8T>G)
c.1478+8T>G (n.1478+8T>G)
c.1109+8T>G (n.1109+8T>G)
5g.112835173T=CA1573471781APCc.1623+8T= (n.1623+8T=)
c.2012+8T= (n.2012+8T=)
c.*1964+8T= (n.*1964+8T=)
c.1904+8T= (n.1904+8T=)
c.1958+8T= (n.1958+8T=)
c.311+8T=
c.647+8T= (n.647+8T=)
c.*1280+8T= (n.*1280+8T=)
c.230+6201T=
c.1988+8T= (n.1988+8T=)
c.1883+8T= (n.1883+8T=)
c.1874+8T= (n.1874+8T=)
c.1835+8T= (n.1835+8T=)
c.1781+8T= (n.1781+8T=)
c.1685+8T= (n.1685+8T=)
c.1655+8T= (n.1655+8T=)
c.1580+8T= (n.1580+8T=)
c.1478+8T= (n.1478+8T=)
c.1109+8T= (n.1109+8T=)
5g.112835173_112835175delCA030255APCc.1623+8_1623+10del (n.1623+8_1623+10del)
c.2012+8_2012+10del (n.2012+8_2012+10del)
c.*1964+8_*1964+10del (n.*1964+8_*1964+10del)
c.1904+8_1904+10del (n.1904+8_1904+10del)
c.1958+8_1958+10del (n.1958+8_1958+10del)
c.311+8_311+10del
c.647+8_647+10del (n.647+8_647+10del)
c.*1280+8_*1280+10del (n.*1280+8_*1280+10del)
c.230+6201_230+6203del
c.1988+8_1988+10del (n.1988+8_1988+10del)
c.1883+8_1883+10del (n.1883+8_1883+10del)
c.1874+8_1874+10del (n.1874+8_1874+10del)
c.1835+8_1835+10del (n.1835+8_1835+10del)
c.1781+8_1781+10del (n.1781+8_1781+10del)
c.1685+8_1685+10del (n.1685+8_1685+10del)
c.1655+8_1655+10del (n.1655+8_1655+10del)
c.1580+8_1580+10del (n.1580+8_1580+10del)
c.1478+8_1478+10del (n.1478+8_1478+10del)
c.1109+8_1109+10del (n.1109+8_1109+10del)
 ClinVar dbSNP ExAC gnomAD v2
5g.112835173_112835175delinsTAGCA1573471780APCc.1623+8_1623+10delinsTAG (n.1623+8_1623+10delinsTAG)
c.2012+8_2012+10delinsTAG (n.2012+8_2012+10delinsTAG)
c.*1964+8_*1964+10delinsTAG (n.*1964+8_*1964+10delinsTAG)
c.1904+8_1904+10delinsTAG (n.1904+8_1904+10delinsTAG)
c.1958+8_1958+10delinsTAG (n.1958+8_1958+10delinsTAG)
c.311+8_311+10delinsTAG
c.647+8_647+10delinsTAG (n.647+8_647+10delinsTAG)
c.*1280+8_*1280+10delinsTAG (n.*1280+8_*1280+10delinsTAG)
c.230+6201_230+6203delinsTAG
c.1988+8_1988+10delinsTAG (n.1988+8_1988+10delinsTAG)
c.1883+8_1883+10delinsTAG (n.1883+8_1883+10delinsTAG)
c.1874+8_1874+10delinsTAG (n.1874+8_1874+10delinsTAG)
c.1835+8_1835+10delinsTAG (n.1835+8_1835+10delinsTAG)
c.1781+8_1781+10delinsTAG (n.1781+8_1781+10delinsTAG)
c.1685+8_1685+10delinsTAG (n.1685+8_1685+10delinsTAG)
c.1655+8_1655+10delinsTAG (n.1655+8_1655+10delinsTAG)
c.1580+8_1580+10delinsTAG (n.1580+8_1580+10delinsTAG)
c.1478+8_1478+10delinsTAG (n.1478+8_1478+10delinsTAG)
c.1109+8_1109+10delinsTAG (n.1109+8_1109+10delinsTAG)
5g.112835174A>TCA2709983702APCc.1623+9A>T (n.1623+9A>T)
c.2012+9A>T (n.2012+9A>T)
c.*1964+9A>T (n.*1964+9A>T)
c.1904+9A>T (n.1904+9A>T)
c.1958+9A>T (n.1958+9A>T)
c.311+9A>T
c.647+9A>T (n.647+9A>T)
c.*1280+9A>T (n.*1280+9A>T)
c.230+6202A>T
c.1988+9A>T (n.1988+9A>T)
c.1883+9A>T (n.1883+9A>T)
c.1874+9A>T (n.1874+9A>T)
c.1835+9A>T (n.1835+9A>T)
c.1781+9A>T (n.1781+9A>T)
c.1685+9A>T (n.1685+9A>T)
c.1655+9A>T (n.1655+9A>T)
c.1580+9A>T (n.1580+9A>T)
c.1478+9A>T (n.1478+9A>T)
c.1109+9A>T (n.1109+9A>T)
 dbSNP
5g.112835176_112835177delCA658683418APCc.1623+11_1623+12del (n.1623+11_1623+12del)
c.2012+11_2012+12del (n.2012+11_2012+12del)
c.*1964+11_*1964+12del (n.*1964+11_*1964+12del)
c.1904+11_1904+12del (n.1904+11_1904+12del)
c.1958+11_1958+12del (n.1958+11_1958+12del)
c.311+11_311+12del
c.647+11_647+12del (n.647+11_647+12del)
c.*1280+11_*1280+12del (n.*1280+11_*1280+12del)
c.230+6204_230+6205del
c.1988+11_1988+12del (n.1988+11_1988+12del)
c.1883+11_1883+12del (n.1883+11_1883+12del)
c.1874+11_1874+12del (n.1874+11_1874+12del)
c.1835+11_1835+12del (n.1835+11_1835+12del)
c.1781+11_1781+12del (n.1781+11_1781+12del)
c.1685+11_1685+12del (n.1685+11_1685+12del)
c.1655+11_1655+12del (n.1655+11_1655+12del)
c.1580+11_1580+12del (n.1580+11_1580+12del)
c.1478+11_1478+12del (n.1478+11_1478+12del)
c.1109+11_1109+12del (n.1109+11_1109+12del)
 ClinVar dbSNP gnomAD v4
5g.112835175G>ACA2709723841APCc.1623+10G>A (n.1623+10G>A)
c.2012+10G>A (n.2012+10G>A)
c.*1964+10G>A (n.*1964+10G>A)
c.1904+10G>A (n.1904+10G>A)
c.1958+10G>A (n.1958+10G>A)
c.311+10G>A
c.647+10G>A (n.647+10G>A)
c.*1280+10G>A (n.*1280+10G>A)
c.230+6203G>A
c.1988+10G>A (n.1988+10G>A)
c.1883+10G>A (n.1883+10G>A)
c.1874+10G>A (n.1874+10G>A)
c.1835+10G>A (n.1835+10G>A)
c.1781+10G>A (n.1781+10G>A)
c.1685+10G>A (n.1685+10G>A)
c.1655+10G>A (n.1655+10G>A)
c.1580+10G>A (n.1580+10G>A)
c.1478+10G>A (n.1478+10G>A)
c.1109+10G>A (n.1109+10G>A)
 dbSNP
5g.112835175G>CCA2709723842APCc.1623+10G>C (n.1623+10G>C)
c.2012+10G>C (n.2012+10G>C)
c.*1964+10G>C (n.*1964+10G>C)
c.1904+10G>C (n.1904+10G>C)
c.1958+10G>C (n.1958+10G>C)
c.311+10G>C
c.647+10G>C (n.647+10G>C)
c.*1280+10G>C (n.*1280+10G>C)
c.230+6203G>C
c.1988+10G>C (n.1988+10G>C)
c.1883+10G>C (n.1883+10G>C)
c.1874+10G>C (n.1874+10G>C)
c.1835+10G>C (n.1835+10G>C)
c.1781+10G>C (n.1781+10G>C)
c.1685+10G>C (n.1685+10G>C)
c.1655+10G>C (n.1655+10G>C)
c.1580+10G>C (n.1580+10G>C)
c.1478+10G>C (n.1478+10G>C)
c.1109+10G>C (n.1109+10G>C)
 dbSNP
5g.112835175G=CA1573471795APCc.1623+10G= (n.1623+10G=)
c.2012+10G= (n.2012+10G=)
c.*1964+10G= (n.*1964+10G=)
c.1904+10G= (n.1904+10G=)
c.1958+10G= (n.1958+10G=)
c.311+10G=
c.647+10G= (n.647+10G=)
c.*1280+10G= (n.*1280+10G=)
c.230+6203G=
c.1988+10G= (n.1988+10G=)
c.1883+10G= (n.1883+10G=)
c.1874+10G= (n.1874+10G=)
c.1835+10G= (n.1835+10G=)
c.1781+10G= (n.1781+10G=)
c.1685+10G= (n.1685+10G=)
c.1655+10G= (n.1655+10G=)
c.1580+10G= (n.1580+10G=)
c.1478+10G= (n.1478+10G=)
c.1109+10G= (n.1109+10G=)
5g.112835175G>TCA029989APCc.1623+10G>T (n.1623+10G>T)
c.2012+10G>T (n.2012+10G>T)
c.*1964+10G>T (n.*1964+10G>T)
c.1904+10G>T (n.1904+10G>T)
c.1958+10G>T (n.1958+10G>T)
c.311+10G>T
c.647+10G>T (n.647+10G>T)
c.*1280+10G>T (n.*1280+10G>T)
c.230+6203G>T
c.1988+10G>T (n.1988+10G>T)
c.1883+10G>T (n.1883+10G>T)
c.1874+10G>T (n.1874+10G>T)
c.1835+10G>T (n.1835+10G>T)
c.1781+10G>T (n.1781+10G>T)
c.1685+10G>T (n.1685+10G>T)
c.1655+10G>T (n.1655+10G>T)
c.1580+10G>T (n.1580+10G>T)
c.1478+10G>T (n.1478+10G>T)
c.1109+10G>T (n.1109+10G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112835176A>GCA2767942858APCc.1623+11A>G (n.1623+11A>G)
c.2012+11A>G (n.2012+11A>G)
c.*1964+11A>G (n.*1964+11A>G)
c.1904+11A>G (n.1904+11A>G)
c.1958+11A>G (n.1958+11A>G)
c.311+11A>G
c.647+11A>G (n.647+11A>G)
c.*1280+11A>G (n.*1280+11A>G)
c.230+6204A>G
c.1988+11A>G (n.1988+11A>G)
c.1883+11A>G (n.1883+11A>G)
c.1874+11A>G (n.1874+11A>G)
c.1835+11A>G (n.1835+11A>G)
c.1781+11A>G (n.1781+11A>G)
c.1685+11A>G (n.1685+11A>G)
c.1655+11A>G (n.1655+11A>G)
c.1580+11A>G (n.1580+11A>G)
c.1478+11A>G (n.1478+11A>G)
c.1109+11A>G (n.1109+11A>G)
5g.112835176A>TCA2825001358APCc.1623+11A>T (n.1623+11A>T)
c.2012+11A>T (n.2012+11A>T)
c.*1964+11A>T (n.*1964+11A>T)
c.1904+11A>T (n.1904+11A>T)
c.1958+11A>T (n.1958+11A>T)
c.311+11A>T
c.647+11A>T (n.647+11A>T)
c.*1280+11A>T (n.*1280+11A>T)
c.230+6204A>T
c.1988+11A>T (n.1988+11A>T)
c.1883+11A>T (n.1883+11A>T)
c.1874+11A>T (n.1874+11A>T)
c.1835+11A>T (n.1835+11A>T)
c.1781+11A>T (n.1781+11A>T)
c.1685+11A>T (n.1685+11A>T)
c.1655+11A>T (n.1655+11A>T)
c.1580+11A>T (n.1580+11A>T)
c.1478+11A>T (n.1478+11A>T)
c.1109+11A>T (n.1109+11A>T)
 ClinVar
5g.112835178T>ACA2709983804APCc.1623+13T>A (n.1623+13T>A)
c.2012+13T>A (n.2012+13T>A)
c.*1964+13T>A (n.*1964+13T>A)
c.1904+13T>A (n.1904+13T>A)
c.1958+13T>A (n.1958+13T>A)
c.311+13T>A
c.647+13T>A (n.647+13T>A)
c.*1280+13T>A (n.*1280+13T>A)
c.230+6206T>A
c.1988+13T>A (n.1988+13T>A)
c.1883+13T>A (n.1883+13T>A)
c.1874+13T>A (n.1874+13T>A)
c.1835+13T>A (n.1835+13T>A)
c.1781+13T>A (n.1781+13T>A)
c.1685+13T>A (n.1685+13T>A)
c.1655+13T>A (n.1655+13T>A)
c.1580+13T>A (n.1580+13T>A)
c.1478+13T>A (n.1478+13T>A)
c.1109+13T>A (n.1109+13T>A)
 dbSNP
5g.112835178T>GCA2709983807APCc.1623+13T>G (n.1623+13T>G)
c.2012+13T>G (n.2012+13T>G)
c.*1964+13T>G (n.*1964+13T>G)
c.1904+13T>G (n.1904+13T>G)
c.1958+13T>G (n.1958+13T>G)
c.311+13T>G
c.647+13T>G (n.647+13T>G)
c.*1280+13T>G (n.*1280+13T>G)
c.230+6206T>G
c.1988+13T>G (n.1988+13T>G)
c.1883+13T>G (n.1883+13T>G)
c.1874+13T>G (n.1874+13T>G)
c.1835+13T>G (n.1835+13T>G)
c.1781+13T>G (n.1781+13T>G)
c.1685+13T>G (n.1685+13T>G)
c.1655+13T>G (n.1655+13T>G)
c.1580+13T>G (n.1580+13T>G)
c.1478+13T>G (n.1478+13T>G)
c.1109+13T>G (n.1109+13T>G)
 dbSNP
5g.112835179T>CCA030011APCc.1623+14T>C (n.1623+14T>C)
c.2012+14T>C (n.2012+14T>C)
c.*1964+14T>C (n.*1964+14T>C)
c.1904+14T>C (n.1904+14T>C)
c.1958+14T>C (n.1958+14T>C)
c.311+14T>C
c.647+14T>C (n.647+14T>C)
c.*1280+14T>C (n.*1280+14T>C)
c.230+6207T>C
c.1988+14T>C (n.1988+14T>C)
c.1883+14T>C (n.1883+14T>C)
c.1874+14T>C (n.1874+14T>C)
c.1835+14T>C (n.1835+14T>C)
c.1781+14T>C (n.1781+14T>C)
c.1685+14T>C (n.1685+14T>C)
c.1655+14T>C (n.1655+14T>C)
c.1580+14T>C (n.1580+14T>C)
c.1478+14T>C (n.1478+14T>C)
c.1109+14T>C (n.1109+14T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.112835179T>GCA1573471810APCc.1623+14T>G (n.1623+14T>G)
c.2012+14T>G (n.2012+14T>G)
c.*1964+14T>G (n.*1964+14T>G)
c.1904+14T>G (n.1904+14T>G)
c.1958+14T>G (n.1958+14T>G)
c.311+14T>G
c.647+14T>G (n.647+14T>G)
c.*1280+14T>G (n.*1280+14T>G)
c.230+6207T>G
c.1988+14T>G (n.1988+14T>G)
c.1883+14T>G (n.1883+14T>G)
c.1874+14T>G (n.1874+14T>G)
c.1835+14T>G (n.1835+14T>G)
c.1781+14T>G (n.1781+14T>G)
c.1685+14T>G (n.1685+14T>G)
c.1655+14T>G (n.1655+14T>G)
c.1580+14T>G (n.1580+14T>G)
c.1478+14T>G (n.1478+14T>G)
c.1109+14T>G (n.1109+14T>G)
 dbSNP
5g.112835179T=CA1573471814APCc.1623+14T= (n.1623+14T=)
c.2012+14T= (n.2012+14T=)
c.*1964+14T= (n.*1964+14T=)
c.1904+14T= (n.1904+14T=)
c.1958+14T= (n.1958+14T=)
c.311+14T=
c.647+14T= (n.647+14T=)
c.*1280+14T= (n.*1280+14T=)
c.230+6207T=
c.1988+14T= (n.1988+14T=)
c.1883+14T= (n.1883+14T=)
c.1874+14T= (n.1874+14T=)
c.1835+14T= (n.1835+14T=)
c.1781+14T= (n.1781+14T=)
c.1685+14T= (n.1685+14T=)
c.1655+14T= (n.1655+14T=)
c.1580+14T= (n.1580+14T=)
c.1478+14T= (n.1478+14T=)
c.1109+14T= (n.1109+14T=)
5g.112835179_112835184delinsTTTATACA1573471806APCc.1623+14_1623+19delinsTTTATA (n.1623+14_1623+19delinsTTTATA)
c.2012+14_2012+19delinsTTTATA (n.2012+14_2012+19delinsTTTATA)
c.*1964+14_*1964+19delinsTTTATA (n.*1964+14_*1964+19delinsTTTATA)
c.1904+14_1904+19delinsTTTATA (n.1904+14_1904+19delinsTTTATA)
c.1958+14_1958+19delinsTTTATA (n.1958+14_1958+19delinsTTTATA)
c.311+14_311+19delinsTTTATA
c.647+14_647+19delinsTTTATA (n.647+14_647+19delinsTTTATA)
c.*1280+14_*1280+19delinsTTTATA (n.*1280+14_*1280+19delinsTTTATA)
c.230+6207_230+6212delinsTTTATA
c.1988+14_1988+19delinsTTTATA (n.1988+14_1988+19delinsTTTATA)
c.1883+14_1883+19delinsTTTATA (n.1883+14_1883+19delinsTTTATA)
c.1874+14_1874+19delinsTTTATA (n.1874+14_1874+19delinsTTTATA)
c.1835+14_1835+19delinsTTTATA (n.1835+14_1835+19delinsTTTATA)
c.1781+14_1781+19delinsTTTATA (n.1781+14_1781+19delinsTTTATA)
c.1685+14_1685+19delinsTTTATA (n.1685+14_1685+19delinsTTTATA)
c.1655+14_1655+19delinsTTTATA (n.1655+14_1655+19delinsTTTATA)
c.1580+14_1580+19delinsTTTATA (n.1580+14_1580+19delinsTTTATA)
c.1478+14_1478+19delinsTTTATA (n.1478+14_1478+19delinsTTTATA)
c.1109+14_1109+19delinsTTTATA (n.1109+14_1109+19delinsTTTATA)
5g.112835180T>ACA2709983810APCc.1623+15T>A (n.1623+15T>A)
c.2012+15T>A (n.2012+15T>A)
c.*1964+15T>A (n.*1964+15T>A)
c.1904+15T>A (n.1904+15T>A)
c.1958+15T>A (n.1958+15T>A)
c.311+15T>A
c.647+15T>A (n.647+15T>A)
c.*1280+15T>A (n.*1280+15T>A)
c.230+6208T>A
c.1988+15T>A (n.1988+15T>A)
c.1883+15T>A (n.1883+15T>A)
c.1874+15T>A (n.1874+15T>A)
c.1835+15T>A (n.1835+15T>A)
c.1781+15T>A (n.1781+15T>A)
c.1685+15T>A (n.1685+15T>A)
c.1655+15T>A (n.1655+15T>A)
c.1580+15T>A (n.1580+15T>A)
c.1478+15T>A (n.1478+15T>A)
c.1109+15T>A (n.1109+15T>A)
 dbSNP
5g.112835183_112835187delCA562217596APCc.1623+18_1623+22del (n.1623+18_1623+22del)
c.2012+18_2012+22del (n.2012+18_2012+22del)
c.*1964+18_*1964+22del (n.*1964+18_*1964+22del)
c.1904+18_1904+22del (n.1904+18_1904+22del)
c.1958+18_1958+22del (n.1958+18_1958+22del)
c.311+18_311+22del
c.647+18_647+22del (n.647+18_647+22del)
c.*1280+18_*1280+22del (n.*1280+18_*1280+22del)
c.230+6211_230+6215del
c.1988+18_1988+22del (n.1988+18_1988+22del)
c.1883+18_1883+22del (n.1883+18_1883+22del)
c.1874+18_1874+22del (n.1874+18_1874+22del)
c.1835+18_1835+22del (n.1835+18_1835+22del)
c.1781+18_1781+22del (n.1781+18_1781+22del)
c.1685+18_1685+22del (n.1685+18_1685+22del)
c.1655+18_1655+22del (n.1655+18_1655+22del)
c.1580+18_1580+22del (n.1580+18_1580+22del)
c.1478+18_1478+22del (n.1478+18_1478+22del)
c.1109+18_1109+22del (n.1109+18_1109+22del)
 dbSNP gnomAD v2 gnomAD v4
5g.112835181T>CCA2580072482APCc.1623+16T>C (n.1623+16T>C)
c.2012+16T>C (n.2012+16T>C)
c.*1964+16T>C (n.*1964+16T>C)
c.1904+16T>C (n.1904+16T>C)
c.1958+16T>C (n.1958+16T>C)
c.311+16T>C
c.647+16T>C (n.647+16T>C)
c.*1280+16T>C (n.*1280+16T>C)
c.230+6209T>C
c.1988+16T>C (n.1988+16T>C)
c.1883+16T>C (n.1883+16T>C)
c.1874+16T>C (n.1874+16T>C)
c.1835+16T>C (n.1835+16T>C)
c.1781+16T>C (n.1781+16T>C)
c.1685+16T>C (n.1685+16T>C)
c.1655+16T>C (n.1655+16T>C)
c.1580+16T>C (n.1580+16T>C)
c.1478+16T>C (n.1478+16T>C)
c.1109+16T>C (n.1109+16T>C)
 ClinVar gnomAD v4
5g.112835182A=CA1573471820APCc.1623+17A= (n.1623+17A=)
c.2012+17A= (n.2012+17A=)
c.*1964+17A= (n.*1964+17A=)
c.1904+17A= (n.1904+17A=)
c.1958+17A= (n.1958+17A=)
c.311+17A=
c.647+17A= (n.647+17A=)
c.*1280+17A= (n.*1280+17A=)
c.230+6210A=
c.1988+17A= (n.1988+17A=)
c.1883+17A= (n.1883+17A=)
c.1874+17A= (n.1874+17A=)
c.1835+17A= (n.1835+17A=)
c.1781+17A= (n.1781+17A=)
c.1685+17A= (n.1685+17A=)
c.1655+17A= (n.1655+17A=)
c.1580+17A= (n.1580+17A=)
c.1478+17A= (n.1478+17A=)
c.1109+17A= (n.1109+17A=)
5g.112835182A>GCA802045515APCc.1623+17A>G (n.1623+17A>G)
c.2012+17A>G (n.2012+17A>G)
c.*1964+17A>G (n.*1964+17A>G)
c.1904+17A>G (n.1904+17A>G)
c.1958+17A>G (n.1958+17A>G)
c.311+17A>G
c.647+17A>G (n.647+17A>G)
c.*1280+17A>G (n.*1280+17A>G)
c.230+6210A>G
c.1988+17A>G (n.1988+17A>G)
c.1883+17A>G (n.1883+17A>G)
c.1874+17A>G (n.1874+17A>G)
c.1835+17A>G (n.1835+17A>G)
c.1781+17A>G (n.1781+17A>G)
c.1685+17A>G (n.1685+17A>G)
c.1655+17A>G (n.1655+17A>G)
c.1580+17A>G (n.1580+17A>G)
c.1478+17A>G (n.1478+17A>G)
c.1109+17A>G (n.1109+17A>G)
 ClinVar dbSNP gnomAD v4
5g.112835182A>TCA030038APCc.1623+17A>T (n.1623+17A>T)
c.2012+17A>T (n.2012+17A>T)
c.*1964+17A>T (n.*1964+17A>T)
c.1904+17A>T (n.1904+17A>T)
c.1958+17A>T (n.1958+17A>T)
c.311+17A>T
c.647+17A>T (n.647+17A>T)
c.*1280+17A>T (n.*1280+17A>T)
c.230+6210A>T
c.1988+17A>T (n.1988+17A>T)
c.1883+17A>T (n.1883+17A>T)
c.1874+17A>T (n.1874+17A>T)
c.1835+17A>T (n.1835+17A>T)
c.1781+17A>T (n.1781+17A>T)
c.1685+17A>T (n.1685+17A>T)
c.1655+17A>T (n.1655+17A>T)
c.1580+17A>T (n.1580+17A>T)
c.1478+17A>T (n.1478+17A>T)
c.1109+17A>T (n.1109+17A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched