Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.73276747_73276792dupCA2625566421NUMBc.1742_1787dup (p.Leu597AlafsTer13)
c.1598_1643dup (p.Leu549AlafsTer13)
c.1709_1754dup (p.Leu586AlafsTer13)
c.1157_1202dup (p.Leu402AlafsTer13)
c.1124_1169dup (p.Leu391AlafsTer13)
c.1565_1610dup (p.Leu538AlafsTer13)
c.1271_1316dup (p.Leu440AlafsTer13)
c.1310_1355dup (p.Leu453AlafsTer13)
c.1304_1349dup (p.Leu451AlafsTer13)
c.1700_1745dup (p.Leu583AlafsTer13)
c.1733_1778dup (p.Leu594AlafsTer13)
c.1589_1634dup (p.Leu546AlafsTer13)
c.1448_1493dup (p.Leu499AlafsTer13)
 gnomAD v4
14g.73276750_73276753delinsCCATCA2146520926NUMBc.1781_1784delinsATGG (p.Asp594=)
c.1637_1640delinsATGG (p.Asp546=)
c.1748_1751delinsATGG (p.Asp583=)
c.1196_1199delinsATGG (p.Asp399=)
c.1163_1166delinsATGG (p.Asp388=)
c.1604_1607delinsATGG (p.Asp535=)
c.1310_1313delinsATGG (p.Asp437=)
c.1349_1352delinsATGG (p.Asp450=)
c.1343_1346delinsATGG (p.Asp448=)
c.1739_1742delinsATGG (p.Asp580=)
c.1772_1775delinsATGG (p.Asp591=)
c.1628_1631delinsATGG (p.Asp543=)
c.1487_1490delinsATGG (p.Asp496=)
14g.73276755_73276757delCA7258650NUMBc.1781_1783del (p.Asp594del)
c.1637_1639del (p.Asp546del)
c.1748_1750del (p.Asp583del)
c.1196_1198del (p.Asp399del)
c.1163_1165del (p.Asp388del)
c.1604_1606del (p.Asp535del)
c.1310_1312del (p.Asp437del)
c.1349_1351del (p.Asp450del)
c.1343_1345del (p.Asp448del)
c.1739_1741del (p.Asp580del)
c.1772_1774del (p.Asp591del)
c.1628_1630del (p.Asp543del)
c.1487_1489del (p.Asp496del)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.73276752A=CA2146520928NUMBc.1782T= (p.Asp594=)
c.1638T= (p.Asp546=)
c.1749T= (p.Asp583=)
c.1197T= (p.Asp399=)
c.1164T= (p.Asp388=)
c.1605T= (p.Asp535=)
c.1311T= (p.Asp437=)
c.1350T= (p.Asp450=)
c.1344T= (p.Asp448=)
c.1740T= (p.Asp580=)
c.1773T= (p.Asp591=)
c.1629T= (p.Asp543=)
c.1488T= (p.Asp496=)
14g.73276752A>CCA390336358NUMBc.1782T>G (p.Asp594Glu)
c.1638T>G (p.Asp546Glu)
c.1749T>G (p.Asp583Glu)
c.1197T>G (p.Asp399Glu)
c.1164T>G (p.Asp388Glu)
c.1605T>G (p.Asp535Glu)
c.1311T>G (p.Asp437Glu)
c.1350T>G (p.Asp450Glu)
c.1344T>G (p.Asp448Glu)
c.1740T>G (p.Asp580Glu)
c.1773T>G (p.Asp591Glu)
c.1629T>G (p.Asp543Glu)
c.1488T>G (p.Asp496Glu)
14g.73276752A>GCA7258651NUMBc.1782T>C (p.Asp594=)
c.1638T>C (p.Asp546=)
c.1749T>C (p.Asp583=)
c.1197T>C (p.Asp399=)
c.1164T>C (p.Asp388=)
c.1605T>C (p.Asp535=)
c.1311T>C (p.Asp437=)
c.1350T>C (p.Asp450=)
c.1344T>C (p.Asp448=)
c.1740T>C (p.Asp580=)
c.1773T>C (p.Asp591=)
c.1629T>C (p.Asp543=)
c.1488T>C (p.Asp496=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.73276752A>TCA390336363NUMBc.1782T>A (p.Asp594Glu)
c.1638T>A (p.Asp546Glu)
c.1749T>A (p.Asp583Glu)
c.1197T>A (p.Asp399Glu)
c.1164T>A (p.Asp388Glu)
c.1605T>A (p.Asp535Glu)
c.1311T>A (p.Asp437Glu)
c.1350T>A (p.Asp450Glu)
c.1344T>A (p.Asp448Glu)
c.1740T>A (p.Asp580Glu)
c.1773T>A (p.Asp591Glu)
c.1629T>A (p.Asp543Glu)
c.1488T>A (p.Asp496Glu)
14g.73276753T>ACA390336375NUMBc.1781A>T (p.Asp594Val)
c.1637A>T (p.Asp546Val)
c.1748A>T (p.Asp583Val)
c.1196A>T (p.Asp399Val)
c.1163A>T (p.Asp388Val)
c.1604A>T (p.Asp535Val)
c.1310A>T (p.Asp437Val)
c.1349A>T (p.Asp450Val)
c.1343A>T (p.Asp448Val)
c.1739A>T (p.Asp580Val)
c.1772A>T (p.Asp591Val)
c.1628A>T (p.Asp543Val)
c.1487A>T (p.Asp496Val)
 COSMIC
14g.73276753T>CCA390336380NUMBc.1781A>G (p.Asp594Gly)
c.1637A>G (p.Asp546Gly)
c.1748A>G (p.Asp583Gly)
c.1196A>G (p.Asp399Gly)
c.1163A>G (p.Asp388Gly)
c.1604A>G (p.Asp535Gly)
c.1310A>G (p.Asp437Gly)
c.1349A>G (p.Asp450Gly)
c.1343A>G (p.Asp448Gly)
c.1739A>G (p.Asp580Gly)
c.1772A>G (p.Asp591Gly)
c.1628A>G (p.Asp543Gly)
c.1487A>G (p.Asp496Gly)
14g.73276753T>GCA390336372NUMBc.1781A>C (p.Asp594Ala)
c.1637A>C (p.Asp546Ala)
c.1748A>C (p.Asp583Ala)
c.1196A>C (p.Asp399Ala)
c.1163A>C (p.Asp388Ala)
c.1604A>C (p.Asp535Ala)
c.1310A>C (p.Asp437Ala)
c.1349A>C (p.Asp450Ala)
c.1343A>C (p.Asp448Ala)
c.1739A>C (p.Asp580Ala)
c.1772A>C (p.Asp591Ala)
c.1628A>C (p.Asp543Ala)
c.1487A>C (p.Asp496Ala)
14g.73276754C>ACA390336384NUMBc.1780G>T (p.Asp594Tyr)
c.1636G>T (p.Asp546Tyr)
c.1747G>T (p.Asp583Tyr)
c.1195G>T (p.Asp399Tyr)
c.1162G>T (p.Asp388Tyr)
c.1603G>T (p.Asp535Tyr)
c.1309G>T (p.Asp437Tyr)
c.1348G>T (p.Asp450Tyr)
c.1342G>T (p.Asp448Tyr)
c.1738G>T (p.Asp580Tyr)
c.1771G>T (p.Asp591Tyr)
c.1627G>T (p.Asp543Tyr)
c.1486G>T (p.Asp496Tyr)
14g.73276754C>GCA390336385NUMBc.1780G>C (p.Asp594His)
c.1636G>C (p.Asp546His)
c.1747G>C (p.Asp583His)
c.1195G>C (p.Asp399His)
c.1162G>C (p.Asp388His)
c.1603G>C (p.Asp535His)
c.1309G>C (p.Asp437His)
c.1348G>C (p.Asp450His)
c.1342G>C (p.Asp448His)
c.1738G>C (p.Asp580His)
c.1771G>C (p.Asp591His)
c.1627G>C (p.Asp543His)
c.1486G>C (p.Asp496His)
14g.73276754C>TCA390336387NUMBc.1780G>A (p.Asp594Asn)
c.1636G>A (p.Asp546Asn)
c.1747G>A (p.Asp583Asn)
c.1195G>A (p.Asp399Asn)
c.1162G>A (p.Asp388Asn)
c.1603G>A (p.Asp535Asn)
c.1309G>A (p.Asp437Asn)
c.1348G>A (p.Asp450Asn)
c.1342G>A (p.Asp448Asn)
c.1738G>A (p.Asp580Asn)
c.1771G>A (p.Asp591Asn)
c.1627G>A (p.Asp543Asn)
c.1486G>A (p.Asp496Asn)
14g.73276754_73276755insGAGCA964637043NUMBc.1779_1780insCTC (p.Asp593_Asp594insLeu)
c.1635_1636insCTC (p.Asp545_Asp546insLeu)
c.1746_1747insCTC (p.Asp582_Asp583insLeu)
c.1194_1195insCTC (p.Asp398_Asp399insLeu)
c.1161_1162insCTC (p.Asp387_Asp388insLeu)
c.1602_1603insCTC (p.Asp534_Asp535insLeu)
c.1308_1309insCTC (p.Asp436_Asp437insLeu)
c.1347_1348insCTC (p.Asp449_Asp450insLeu)
c.1341_1342insCTC (p.Asp447_Asp448insLeu)
c.1737_1738insCTC (p.Asp579_Asp580insLeu)
c.1770_1771insCTC (p.Asp590_Asp591insLeu)
c.1626_1627insCTC (p.Asp542_Asp543insLeu)
c.1485_1486insCTC (p.Asp495_Asp496insLeu)
 gnomAD v3 gnomAD v4
14g.73276755A=CA2146520929NUMBc.1779T= (p.Asp593=)
c.1635T= (p.Asp545=)
c.1746T= (p.Asp582=)
c.1194T= (p.Asp398=)
c.1161T= (p.Asp387=)
c.1602T= (p.Asp534=)
c.1308T= (p.Asp436=)
c.1347T= (p.Asp449=)
c.1341T= (p.Asp447=)
c.1737T= (p.Asp579=)
c.1770T= (p.Asp590=)
c.1626T= (p.Asp542=)
c.1485T= (p.Asp495=)
14g.73276755A>CCA390336389NUMBc.1779T>G (p.Asp593Glu)
c.1635T>G (p.Asp545Glu)
c.1746T>G (p.Asp582Glu)
c.1194T>G (p.Asp398Glu)
c.1161T>G (p.Asp387Glu)
c.1602T>G (p.Asp534Glu)
c.1308T>G (p.Asp436Glu)
c.1347T>G (p.Asp449Glu)
c.1341T>G (p.Asp447Glu)
c.1737T>G (p.Asp579Glu)
c.1770T>G (p.Asp590Glu)
c.1626T>G (p.Asp542Glu)
c.1485T>G (p.Asp495Glu)
14g.73276755A>GCA262630532NUMBc.1779T>C (p.Asp593=)
c.1635T>C (p.Asp545=)
c.1746T>C (p.Asp582=)
c.1194T>C (p.Asp398=)
c.1161T>C (p.Asp387=)
c.1602T>C (p.Asp534=)
c.1308T>C (p.Asp436=)
c.1347T>C (p.Asp449=)
c.1341T>C (p.Asp447=)
c.1737T>C (p.Asp579=)
c.1770T>C (p.Asp590=)
c.1626T>C (p.Asp542=)
c.1485T>C (p.Asp495=)
 dbSNP gnomAD v4
14g.73276755A>TCA390336391NUMBc.1779T>A (p.Asp593Glu)
c.1635T>A (p.Asp545Glu)
c.1746T>A (p.Asp582Glu)
c.1194T>A (p.Asp398Glu)
c.1161T>A (p.Asp387Glu)
c.1602T>A (p.Asp534Glu)
c.1308T>A (p.Asp436Glu)
c.1347T>A (p.Asp449Glu)
c.1341T>A (p.Asp447Glu)
c.1737T>A (p.Asp579Glu)
c.1770T>A (p.Asp590Glu)
c.1626T>A (p.Asp542Glu)
c.1485T>A (p.Asp495Glu)
14g.73276756T>ACA390336404NUMBc.1778A>T (p.Asp593Val)
c.1634A>T (p.Asp545Val)
c.1745A>T (p.Asp582Val)
c.1193A>T (p.Asp398Val)
c.1160A>T (p.Asp387Val)
c.1601A>T (p.Asp534Val)
c.1307A>T (p.Asp436Val)
c.1346A>T (p.Asp449Val)
c.1340A>T (p.Asp447Val)
c.1736A>T (p.Asp579Val)
c.1769A>T (p.Asp590Val)
c.1625A>T (p.Asp542Val)
c.1484A>T (p.Asp495Val)
14g.73276756T>CCA390336399NUMBc.1778A>G (p.Asp593Gly)
c.1634A>G (p.Asp545Gly)
c.1745A>G (p.Asp582Gly)
c.1193A>G (p.Asp398Gly)
c.1160A>G (p.Asp387Gly)
c.1601A>G (p.Asp534Gly)
c.1307A>G (p.Asp436Gly)
c.1346A>G (p.Asp449Gly)
c.1340A>G (p.Asp447Gly)
c.1736A>G (p.Asp579Gly)
c.1769A>G (p.Asp590Gly)
c.1625A>G (p.Asp542Gly)
c.1484A>G (p.Asp495Gly)
14g.73276756T>GCA390336396NUMBc.1778A>C (p.Asp593Ala)
c.1634A>C (p.Asp545Ala)
c.1745A>C (p.Asp582Ala)
c.1193A>C (p.Asp398Ala)
c.1160A>C (p.Asp387Ala)
c.1601A>C (p.Asp534Ala)
c.1307A>C (p.Asp436Ala)
c.1346A>C (p.Asp449Ala)
c.1340A>C (p.Asp447Ala)
c.1736A>C (p.Asp579Ala)
c.1769A>C (p.Asp590Ala)
c.1625A>C (p.Asp542Ala)
c.1484A>C (p.Asp495Ala)
 COSMIC
14g.73276757C>ACA390336410NUMBc.1777G>T (p.Asp593Tyr)
c.1633G>T (p.Asp545Tyr)
c.1744G>T (p.Asp582Tyr)
c.1192G>T (p.Asp398Tyr)
c.1159G>T (p.Asp387Tyr)
c.1600G>T (p.Asp534Tyr)
c.1306G>T (p.Asp436Tyr)
c.1345G>T (p.Asp449Tyr)
c.1339G>T (p.Asp447Tyr)
c.1735G>T (p.Asp579Tyr)
c.1768G>T (p.Asp590Tyr)
c.1624G>T (p.Asp542Tyr)
c.1483G>T (p.Asp495Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.73276757C=CA2146520930NUMBc.1777G= (p.Asp593=)
c.1633G= (p.Asp545=)
c.1744G= (p.Asp582=)
c.1192G= (p.Asp398=)
c.1159G= (p.Asp387=)
c.1600G= (p.Asp534=)
c.1306G= (p.Asp436=)
c.1345G= (p.Asp449=)
c.1339G= (p.Asp447=)
c.1735G= (p.Asp579=)
c.1768G= (p.Asp590=)
c.1624G= (p.Asp542=)
c.1483G= (p.Asp495=)
14g.73276757C>GCA390336412NUMBc.1777G>C (p.Asp593His)
c.1633G>C (p.Asp545His)
c.1744G>C (p.Asp582His)
c.1192G>C (p.Asp398His)
c.1159G>C (p.Asp387His)
c.1600G>C (p.Asp534His)
c.1306G>C (p.Asp436His)
c.1345G>C (p.Asp449His)
c.1339G>C (p.Asp447His)
c.1735G>C (p.Asp579His)
c.1768G>C (p.Asp590His)
c.1624G>C (p.Asp542His)
c.1483G>C (p.Asp495His)
14g.73276757C>TCA390336413NUMBc.1777G>A (p.Asp593Asn)
c.1633G>A (p.Asp545Asn)
c.1744G>A (p.Asp582Asn)
c.1192G>A (p.Asp398Asn)
c.1159G>A (p.Asp387Asn)
c.1600G>A (p.Asp534Asn)
c.1306G>A (p.Asp436Asn)
c.1345G>A (p.Asp449Asn)
c.1339G>A (p.Asp447Asn)
c.1735G>A (p.Asp579Asn)
c.1768G>A (p.Asp590Asn)
c.1624G>A (p.Asp542Asn)
c.1483G>A (p.Asp495Asn)
14g.73276758T>ACA487257643NUMBc.1776A>T (p.Val592=)
c.1632A>T (p.Val544=)
c.1743A>T (p.Val581=)
c.1191A>T (p.Val397=)
c.1158A>T (p.Val386=)
c.1599A>T (p.Val533=)
c.1305A>T (p.Val435=)
c.1344A>T (p.Val448=)
c.1338A>T (p.Val446=)
c.1734A>T (p.Val578=)
c.1767A>T (p.Val589=)
c.1623A>T (p.Val541=)
c.1482A>T (p.Val494=)
 gnomAD v4
14g.73276758T>CCA487257645NUMBc.1776A>G (p.Val592=)
c.1632A>G (p.Val544=)
c.1743A>G (p.Val581=)
c.1191A>G (p.Val397=)
c.1158A>G (p.Val386=)
c.1599A>G (p.Val533=)
c.1305A>G (p.Val435=)
c.1344A>G (p.Val448=)
c.1338A>G (p.Val446=)
c.1734A>G (p.Val578=)
c.1767A>G (p.Val589=)
c.1623A>G (p.Val541=)
c.1482A>G (p.Val494=)
14g.73276758T>GCA487257646NUMBc.1776A>C (p.Val592=)
c.1632A>C (p.Val544=)
c.1743A>C (p.Val581=)
c.1191A>C (p.Val397=)
c.1158A>C (p.Val386=)
c.1599A>C (p.Val533=)
c.1305A>C (p.Val435=)
c.1344A>C (p.Val448=)
c.1338A>C (p.Val446=)
c.1734A>C (p.Val578=)
c.1767A>C (p.Val589=)
c.1623A>C (p.Val541=)
c.1482A>C (p.Val494=)
 gnomAD v4
14g.73276759A=CA2146520931NUMBc.1775T= (p.Val592=)
c.1631T= (p.Val544=)
c.1742T= (p.Val581=)
c.1190T= (p.Val397=)
c.1157T= (p.Val386=)
c.1598T= (p.Val533=)
c.1304T= (p.Val435=)
c.1343T= (p.Val448=)
c.1337T= (p.Val446=)
c.1733T= (p.Val578=)
c.1766T= (p.Val589=)
c.1622T= (p.Val541=)
c.1481T= (p.Val494=)
14g.73276759A>CCA390336417NUMBc.1775T>G (p.Val592Gly)
c.1631T>G (p.Val544Gly)
c.1742T>G (p.Val581Gly)
c.1190T>G (p.Val397Gly)
c.1157T>G (p.Val386Gly)
c.1598T>G (p.Val533Gly)
c.1304T>G (p.Val435Gly)
c.1343T>G (p.Val448Gly)
c.1337T>G (p.Val446Gly)
c.1733T>G (p.Val578Gly)
c.1766T>G (p.Val589Gly)
c.1622T>G (p.Val541Gly)
c.1481T>G (p.Val494Gly)
 gnomAD v4
14g.73276759A>GCA390336419NUMBc.1775T>C (p.Val592Ala)
c.1631T>C (p.Val544Ala)
c.1742T>C (p.Val581Ala)
c.1190T>C (p.Val397Ala)
c.1157T>C (p.Val386Ala)
c.1598T>C (p.Val533Ala)
c.1304T>C (p.Val435Ala)
c.1343T>C (p.Val448Ala)
c.1337T>C (p.Val446Ala)
c.1733T>C (p.Val578Ala)
c.1766T>C (p.Val589Ala)
c.1622T>C (p.Val541Ala)
c.1481T>C (p.Val494Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.73276759A>TCA390336423NUMBc.1775T>A (p.Val592Glu)
c.1631T>A (p.Val544Glu)
c.1742T>A (p.Val581Glu)
c.1190T>A (p.Val397Glu)
c.1157T>A (p.Val386Glu)
c.1598T>A (p.Val533Glu)
c.1304T>A (p.Val435Glu)
c.1343T>A (p.Val448Glu)
c.1337T>A (p.Val446Glu)
c.1733T>A (p.Val578Glu)
c.1766T>A (p.Val589Glu)
c.1622T>A (p.Val541Glu)
c.1481T>A (p.Val494Glu)
14g.73276760C>ACA390336426NUMBc.1774G>T (p.Val592Leu)
c.1630G>T (p.Val544Leu)
c.1741G>T (p.Val581Leu)
c.1189G>T (p.Val397Leu)
c.1156G>T (p.Val386Leu)
c.1597G>T (p.Val533Leu)
c.1303G>T (p.Val435Leu)
c.1342G>T (p.Val448Leu)
c.1336G>T (p.Val446Leu)
c.1732G>T (p.Val578Leu)
c.1765G>T (p.Val589Leu)
c.1621G>T (p.Val541Leu)
c.1480G>T (p.Val494Leu)
 dbSNP gnomAD v3 gnomAD v4
14g.73276760C=CA2146520932NUMBc.1774G= (p.Val592=)
c.1630G= (p.Val544=)
c.1741G= (p.Val581=)
c.1189G= (p.Val397=)
c.1156G= (p.Val386=)
c.1597G= (p.Val533=)
c.1303G= (p.Val435=)
c.1342G= (p.Val448=)
c.1336G= (p.Val446=)
c.1732G= (p.Val578=)
c.1765G= (p.Val589=)
c.1621G= (p.Val541=)
c.1480G= (p.Val494=)
14g.73276760C>GCA390336434NUMBc.1774G>C (p.Val592Leu)
c.1630G>C (p.Val544Leu)
c.1741G>C (p.Val581Leu)
c.1189G>C (p.Val397Leu)
c.1156G>C (p.Val386Leu)
c.1597G>C (p.Val533Leu)
c.1303G>C (p.Val435Leu)
c.1342G>C (p.Val448Leu)
c.1336G>C (p.Val446Leu)
c.1732G>C (p.Val578Leu)
c.1765G>C (p.Val589Leu)
c.1621G>C (p.Val541Leu)
c.1480G>C (p.Val494Leu)
14g.73276760C>TCA390336431NUMBc.1774G>A (p.Val592Ile)
c.1630G>A (p.Val544Ile)
c.1741G>A (p.Val581Ile)
c.1189G>A (p.Val397Ile)
c.1156G>A (p.Val386Ile)
c.1597G>A (p.Val533Ile)
c.1303G>A (p.Val435Ile)
c.1342G>A (p.Val448Ile)
c.1336G>A (p.Val446Ile)
c.1732G>A (p.Val578Ile)
c.1765G>A (p.Val589Ile)
c.1621G>A (p.Val541Ile)
c.1480G>A (p.Val494Ile)
 dbSNP gnomAD v3 gnomAD v4
14g.73276761A>CCA487257653NUMBc.1773T>G (p.Gly591=)
c.1629T>G (p.Gly543=)
c.1740T>G (p.Gly580=)
c.1188T>G (p.Gly396=)
c.1155T>G (p.Gly385=)
c.1596T>G (p.Gly532=)
c.1302T>G (p.Gly434=)
c.1341T>G (p.Gly447=)
c.1335T>G (p.Gly445=)
c.1731T>G (p.Gly577=)
c.1764T>G (p.Gly588=)
c.1620T>G (p.Gly540=)
c.1479T>G (p.Gly493=)
14g.73276761A>GCA487257658NUMBc.1773T>C (p.Gly591=)
c.1629T>C (p.Gly543=)
c.1740T>C (p.Gly580=)
c.1188T>C (p.Gly396=)
c.1155T>C (p.Gly385=)
c.1596T>C (p.Gly532=)
c.1302T>C (p.Gly434=)
c.1341T>C (p.Gly447=)
c.1335T>C (p.Gly445=)
c.1731T>C (p.Gly577=)
c.1764T>C (p.Gly588=)
c.1620T>C (p.Gly540=)
c.1479T>C (p.Gly493=)
14g.73276761A>TCA487257654NUMBc.1773T>A (p.Gly591=)
c.1629T>A (p.Gly543=)
c.1740T>A (p.Gly580=)
c.1188T>A (p.Gly396=)
c.1155T>A (p.Gly385=)
c.1596T>A (p.Gly532=)
c.1302T>A (p.Gly434=)
c.1341T>A (p.Gly447=)
c.1335T>A (p.Gly445=)
c.1731T>A (p.Gly577=)
c.1764T>A (p.Gly588=)
c.1620T>A (p.Gly540=)
c.1479T>A (p.Gly493=)
14g.73276761_73276762delinsACCA2146520933NUMBc.1772_1773delinsGT (p.Gly591=)
c.1628_1629delinsGT (p.Gly543=)
c.1739_1740delinsGT (p.Gly580=)
c.1187_1188delinsGT (p.Gly396=)
c.1154_1155delinsGT (p.Gly385=)
c.1595_1596delinsGT (p.Gly532=)
c.1301_1302delinsGT (p.Gly434=)
c.1340_1341delinsGT (p.Gly447=)
c.1334_1335delinsGT (p.Gly445=)
c.1730_1731delinsGT (p.Gly577=)
c.1763_1764delinsGT (p.Gly588=)
c.1619_1620delinsGT (p.Gly540=)
c.1478_1479delinsGT (p.Gly493=)
14g.73276762C>ACA390336444NUMBc.1772G>T (p.Gly591Val)
c.1628G>T (p.Gly543Val)
c.1739G>T (p.Gly580Val)
c.1187G>T (p.Gly396Val)
c.1154G>T (p.Gly385Val)
c.1595G>T (p.Gly532Val)
c.1301G>T (p.Gly434Val)
c.1340G>T (p.Gly447Val)
c.1334G>T (p.Gly445Val)
c.1730G>T (p.Gly577Val)
c.1763G>T (p.Gly588Val)
c.1619G>T (p.Gly540Val)
c.1478G>T (p.Gly493Val)
14g.73276762C=CA2146520934NUMBc.1772G= (p.Gly591=)
c.1628G= (p.Gly543=)
c.1739G= (p.Gly580=)
c.1187G= (p.Gly396=)
c.1154G= (p.Gly385=)
c.1595G= (p.Gly532=)
c.1301G= (p.Gly434=)
c.1340G= (p.Gly447=)
c.1334G= (p.Gly445=)
c.1730G= (p.Gly577=)
c.1763G= (p.Gly588=)
c.1619G= (p.Gly540=)
c.1478G= (p.Gly493=)
14g.73276762C>GCA390336454NUMBc.1772G>C (p.Gly591Ala)
c.1628G>C (p.Gly543Ala)
c.1739G>C (p.Gly580Ala)
c.1187G>C (p.Gly396Ala)
c.1154G>C (p.Gly385Ala)
c.1595G>C (p.Gly532Ala)
c.1301G>C (p.Gly434Ala)
c.1340G>C (p.Gly447Ala)
c.1334G>C (p.Gly445Ala)
c.1730G>C (p.Gly577Ala)
c.1763G>C (p.Gly588Ala)
c.1619G>C (p.Gly540Ala)
c.1478G>C (p.Gly493Ala)
14g.73276762C>TCA390336457NUMBc.1772G>A (p.Gly591Asp)
c.1628G>A (p.Gly543Asp)
c.1739G>A (p.Gly580Asp)
c.1187G>A (p.Gly396Asp)
c.1154G>A (p.Gly385Asp)
c.1595G>A (p.Gly532Asp)
c.1301G>A (p.Gly434Asp)
c.1340G>A (p.Gly447Asp)
c.1334G>A (p.Gly445Asp)
c.1730G>A (p.Gly577Asp)
c.1763G>A (p.Gly588Asp)
c.1619G>A (p.Gly540Asp)
c.1478G>A (p.Gly493Asp)
 dbSNP gnomAD v4
14g.73276763delCA487257664NUMBc.1772del (p.Gly591ValfsTer2)
c.1628del (p.Gly543ValfsTer2)
c.1739del (p.Gly580ValfsTer2)
c.1187del (p.Gly396ValfsTer2)
c.1154del (p.Gly385ValfsTer2)
c.1595del (p.Gly532ValfsTer2)
c.1301del (p.Gly434ValfsTer2)
c.1340del (p.Gly447ValfsTer2)
c.1334del (p.Gly445ValfsTer2)
c.1730del (p.Gly577ValfsTer2)
c.1763del (p.Gly588ValfsTer2)
c.1619del (p.Gly540ValfsTer2)
c.1478del (p.Gly493ValfsTer2)
 dbSNP gnomAD v2 gnomAD v4
14g.73276763C>ACA390336459NUMBc.1771G>T (p.Gly591Cys)
c.1627G>T (p.Gly543Cys)
c.1738G>T (p.Gly580Cys)
c.1186G>T (p.Gly396Cys)
c.1153G>T (p.Gly385Cys)
c.1594G>T (p.Gly532Cys)
c.1300G>T (p.Gly434Cys)
c.1339G>T (p.Gly447Cys)
c.1333G>T (p.Gly445Cys)
c.1729G>T (p.Gly577Cys)
c.1762G>T (p.Gly588Cys)
c.1618G>T (p.Gly540Cys)
c.1477G>T (p.Gly493Cys)
 dbSNP gnomAD v2
14g.73276763C=CA2146520935NUMBc.1771G= (p.Gly591=)
c.1627G= (p.Gly543=)
c.1738G= (p.Gly580=)
c.1186G= (p.Gly396=)
c.1153G= (p.Gly385=)
c.1594G= (p.Gly532=)
c.1300G= (p.Gly434=)
c.1339G= (p.Gly447=)
c.1333G= (p.Gly445=)
c.1729G= (p.Gly577=)
c.1762G= (p.Gly588=)
c.1618G= (p.Gly540=)
c.1477G= (p.Gly493=)
14g.73276763C>GCA390336460NUMBc.1771G>C (p.Gly591Arg)
c.1627G>C (p.Gly543Arg)
c.1738G>C (p.Gly580Arg)
c.1186G>C (p.Gly396Arg)
c.1153G>C (p.Gly385Arg)
c.1594G>C (p.Gly532Arg)
c.1300G>C (p.Gly434Arg)
c.1339G>C (p.Gly447Arg)
c.1333G>C (p.Gly445Arg)
c.1729G>C (p.Gly577Arg)
c.1762G>C (p.Gly588Arg)
c.1618G>C (p.Gly540Arg)
c.1477G>C (p.Gly493Arg)
14g.73276763C>TCA390336462NUMBc.1771G>A (p.Gly591Ser)
c.1627G>A (p.Gly543Ser)
c.1738G>A (p.Gly580Ser)
c.1186G>A (p.Gly396Ser)
c.1153G>A (p.Gly385Ser)
c.1594G>A (p.Gly532Ser)
c.1300G>A (p.Gly434Ser)
c.1339G>A (p.Gly447Ser)
c.1333G>A (p.Gly445Ser)
c.1729G>A (p.Gly577Ser)
c.1762G>A (p.Gly588Ser)
c.1618G>A (p.Gly540Ser)
c.1477G>A (p.Gly493Ser)
14g.73276764A>CCA390336463NUMBc.1770T>G (p.Asn590Lys)
c.1626T>G (p.Asn542Lys)
c.1737T>G (p.Asn579Lys)
c.1185T>G (p.Asn395Lys)
c.1152T>G (p.Asn384Lys)
c.1593T>G (p.Asn531Lys)
c.1299T>G (p.Asn433Lys)
c.1338T>G (p.Asn446Lys)
c.1332T>G (p.Asn444Lys)
c.1728T>G (p.Asn576Lys)
c.1761T>G (p.Asn587Lys)
c.1617T>G (p.Asn539Lys)
c.1476T>G (p.Asn492Lys)
14g.73276764A>GCA487257670NUMBc.1770T>C (p.Asn590=)
c.1626T>C (p.Asn542=)
c.1737T>C (p.Asn579=)
c.1185T>C (p.Asn395=)
c.1152T>C (p.Asn384=)
c.1593T>C (p.Asn531=)
c.1299T>C (p.Asn433=)
c.1338T>C (p.Asn446=)
c.1332T>C (p.Asn444=)
c.1728T>C (p.Asn576=)
c.1761T>C (p.Asn587=)
c.1617T>C (p.Asn539=)
c.1476T>C (p.Asn492=)
14g.73276764A>TCA390336464NUMBc.1770T>A (p.Asn590Lys)
c.1626T>A (p.Asn542Lys)
c.1737T>A (p.Asn579Lys)
c.1185T>A (p.Asn395Lys)
c.1152T>A (p.Asn384Lys)
c.1593T>A (p.Asn531Lys)
c.1299T>A (p.Asn433Lys)
c.1338T>A (p.Asn446Lys)
c.1332T>A (p.Asn444Lys)
c.1728T>A (p.Asn576Lys)
c.1761T>A (p.Asn587Lys)
c.1617T>A (p.Asn539Lys)
c.1476T>A (p.Asn492Lys)
14g.73276765T>ACA390336465NUMBc.1769A>T (p.Asn590Ile)
c.1625A>T (p.Asn542Ile)
c.1736A>T (p.Asn579Ile)
c.1184A>T (p.Asn395Ile)
c.1151A>T (p.Asn384Ile)
c.1592A>T (p.Asn531Ile)
c.1298A>T (p.Asn433Ile)
c.1337A>T (p.Asn446Ile)
c.1331A>T (p.Asn444Ile)
c.1727A>T (p.Asn576Ile)
c.1760A>T (p.Asn587Ile)
c.1616A>T (p.Asn539Ile)
c.1475A>T (p.Asn492Ile)
 dbSNP
14g.73276765T>CCA7258652NUMBc.1769A>G (p.Asn590Ser)
c.1625A>G (p.Asn542Ser)
c.1736A>G (p.Asn579Ser)
c.1184A>G (p.Asn395Ser)
c.1151A>G (p.Asn384Ser)
c.1592A>G (p.Asn531Ser)
c.1298A>G (p.Asn433Ser)
c.1337A>G (p.Asn446Ser)
c.1331A>G (p.Asn444Ser)
c.1727A>G (p.Asn576Ser)
c.1760A>G (p.Asn587Ser)
c.1616A>G (p.Asn539Ser)
c.1475A>G (p.Asn492Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.73276765T>GCA390336467NUMBc.1769A>C (p.Asn590Thr)
c.1625A>C (p.Asn542Thr)
c.1736A>C (p.Asn579Thr)
c.1184A>C (p.Asn395Thr)
c.1151A>C (p.Asn384Thr)
c.1592A>C (p.Asn531Thr)
c.1298A>C (p.Asn433Thr)
c.1337A>C (p.Asn446Thr)
c.1331A>C (p.Asn444Thr)
c.1727A>C (p.Asn576Thr)
c.1760A>C (p.Asn587Thr)
c.1616A>C (p.Asn539Thr)
c.1475A>C (p.Asn492Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.73276765T=CA2146520936NUMBc.1769A= (p.Asn590=)
c.1625A= (p.Asn542=)
c.1736A= (p.Asn579=)
c.1184A= (p.Asn395=)
c.1151A= (p.Asn384=)
c.1592A= (p.Asn531=)
c.1298A= (p.Asn433=)
c.1337A= (p.Asn446=)
c.1331A= (p.Asn444=)
c.1727A= (p.Asn576=)
c.1760A= (p.Asn587=)
c.1616A= (p.Asn539=)
c.1475A= (p.Asn492=)
14g.73276766T>ACA390336478NUMBc.1768A>T (p.Asn590Tyr)
c.1624A>T (p.Asn542Tyr)
c.1735A>T (p.Asn579Tyr)
c.1183A>T (p.Asn395Tyr)
c.1150A>T (p.Asn384Tyr)
c.1591A>T (p.Asn531Tyr)
c.1297A>T (p.Asn433Tyr)
c.1336A>T (p.Asn446Tyr)
c.1330A>T (p.Asn444Tyr)
c.1726A>T (p.Asn576Tyr)
c.1759A>T (p.Asn587Tyr)
c.1615A>T (p.Asn539Tyr)
c.1474A>T (p.Asn492Tyr)
14g.73276766T>CCA390336472NUMBc.1768A>G (p.Asn590Asp)
c.1624A>G (p.Asn542Asp)
c.1735A>G (p.Asn579Asp)
c.1183A>G (p.Asn395Asp)
c.1150A>G (p.Asn384Asp)
c.1591A>G (p.Asn531Asp)
c.1297A>G (p.Asn433Asp)
c.1336A>G (p.Asn446Asp)
c.1330A>G (p.Asn444Asp)
c.1726A>G (p.Asn576Asp)
c.1759A>G (p.Asn587Asp)
c.1615A>G (p.Asn539Asp)
c.1474A>G (p.Asn492Asp)
 dbSNP gnomAD v3 gnomAD v4
14g.73276766T>GCA7258653NUMBc.1768A>C (p.Asn590His)
c.1624A>C (p.Asn542His)
c.1735A>C (p.Asn579His)
c.1183A>C (p.Asn395His)
c.1150A>C (p.Asn384His)
c.1591A>C (p.Asn531His)
c.1297A>C (p.Asn433His)
c.1336A>C (p.Asn446His)
c.1330A>C (p.Asn444His)
c.1726A>C (p.Asn576His)
c.1759A>C (p.Asn587His)
c.1615A>C (p.Asn539His)
c.1474A>C (p.Asn492His)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.73276766T=CA2146520937NUMBc.1768A= (p.Asn590=)
c.1624A= (p.Asn542=)
c.1735A= (p.Asn579=)
c.1183A= (p.Asn395=)
c.1150A= (p.Asn384=)
c.1591A= (p.Asn531=)
c.1297A= (p.Asn433=)
c.1336A= (p.Asn446=)
c.1330A= (p.Asn444=)
c.1726A= (p.Asn576=)
c.1759A= (p.Asn587=)
c.1615A= (p.Asn539=)
c.1474A= (p.Asn492=)
14g.73276767G>ACA487257679NUMBc.1767C>T (p.Phe589=)
c.1623C>T (p.Phe541=)
c.1734C>T (p.Phe578=)
c.1182C>T (p.Phe394=)
c.1149C>T (p.Phe383=)
c.1590C>T (p.Phe530=)
c.1296C>T (p.Phe432=)
c.1335C>T (p.Phe445=)
c.1329C>T (p.Phe443=)
c.1725C>T (p.Phe575=)
c.1758C>T (p.Phe586=)
c.1614C>T (p.Phe538=)
c.1473C>T (p.Phe491=)
 gnomAD v4
14g.73276767G>CCA390336480NUMBc.1767C>G (p.Phe589Leu)
c.1623C>G (p.Phe541Leu)
c.1734C>G (p.Phe578Leu)
c.1182C>G (p.Phe394Leu)
c.1149C>G (p.Phe383Leu)
c.1590C>G (p.Phe530Leu)
c.1296C>G (p.Phe432Leu)
c.1335C>G (p.Phe445Leu)
c.1329C>G (p.Phe443Leu)
c.1725C>G (p.Phe575Leu)
c.1758C>G (p.Phe586Leu)
c.1614C>G (p.Phe538Leu)
c.1473C>G (p.Phe491Leu)
14g.73276767G>TCA390336482NUMBc.1767C>A (p.Phe589Leu)
c.1623C>A (p.Phe541Leu)
c.1734C>A (p.Phe578Leu)
c.1182C>A (p.Phe394Leu)
c.1149C>A (p.Phe383Leu)
c.1590C>A (p.Phe530Leu)
c.1296C>A (p.Phe432Leu)
c.1335C>A (p.Phe445Leu)
c.1329C>A (p.Phe443Leu)
c.1725C>A (p.Phe575Leu)
c.1758C>A (p.Phe586Leu)
c.1614C>A (p.Phe538Leu)
c.1473C>A (p.Phe491Leu)
14g.73276768A>CCA390336485NUMBc.1766T>G (p.Phe589Cys)
c.1622T>G (p.Phe541Cys)
c.1733T>G (p.Phe578Cys)
c.1181T>G (p.Phe394Cys)
c.1148T>G (p.Phe383Cys)
c.1589T>G (p.Phe530Cys)
c.1295T>G (p.Phe432Cys)
c.1334T>G (p.Phe445Cys)
c.1328T>G (p.Phe443Cys)
c.1724T>G (p.Phe575Cys)
c.1757T>G (p.Phe586Cys)
c.1613T>G (p.Phe538Cys)
c.1472T>G (p.Phe491Cys)
14g.73276768A>GCA390336487NUMBc.1766T>C (p.Phe589Ser)
c.1622T>C (p.Phe541Ser)
c.1733T>C (p.Phe578Ser)
c.1181T>C (p.Phe394Ser)
c.1148T>C (p.Phe383Ser)
c.1589T>C (p.Phe530Ser)
c.1295T>C (p.Phe432Ser)
c.1334T>C (p.Phe445Ser)
c.1328T>C (p.Phe443Ser)
c.1724T>C (p.Phe575Ser)
c.1757T>C (p.Phe586Ser)
c.1613T>C (p.Phe538Ser)
c.1472T>C (p.Phe491Ser)
14g.73276768A>TCA390336489NUMBc.1766T>A (p.Phe589Tyr)
c.1622T>A (p.Phe541Tyr)
c.1733T>A (p.Phe578Tyr)
c.1181T>A (p.Phe394Tyr)
c.1148T>A (p.Phe383Tyr)
c.1589T>A (p.Phe530Tyr)
c.1295T>A (p.Phe432Tyr)
c.1334T>A (p.Phe445Tyr)
c.1328T>A (p.Phe443Tyr)
c.1724T>A (p.Phe575Tyr)
c.1757T>A (p.Phe586Tyr)
c.1613T>A (p.Phe538Tyr)
c.1472T>A (p.Phe491Tyr)
14g.73276769A>CCA390336495NUMBc.1765T>G (p.Phe589Val)
c.1621T>G (p.Phe541Val)
c.1732T>G (p.Phe578Val)
c.1180T>G (p.Phe394Val)
c.1147T>G (p.Phe383Val)
c.1588T>G (p.Phe530Val)
c.1294T>G (p.Phe432Val)
c.1333T>G (p.Phe445Val)
c.1327T>G (p.Phe443Val)
c.1723T>G (p.Phe575Val)
c.1756T>G (p.Phe586Val)
c.1612T>G (p.Phe538Val)
c.1471T>G (p.Phe491Val)
14g.73276769A>GCA390336492NUMBc.1765T>C (p.Phe589Leu)
c.1621T>C (p.Phe541Leu)
c.1732T>C (p.Phe578Leu)
c.1180T>C (p.Phe394Leu)
c.1147T>C (p.Phe383Leu)
c.1588T>C (p.Phe530Leu)
c.1294T>C (p.Phe432Leu)
c.1333T>C (p.Phe445Leu)
c.1327T>C (p.Phe443Leu)
c.1723T>C (p.Phe575Leu)
c.1756T>C (p.Phe586Leu)
c.1612T>C (p.Phe538Leu)
c.1471T>C (p.Phe491Leu)
14g.73276769A>TCA390336491NUMBc.1765T>A (p.Phe589Ile)
c.1621T>A (p.Phe541Ile)
c.1732T>A (p.Phe578Ile)
c.1180T>A (p.Phe394Ile)
c.1147T>A (p.Phe383Ile)
c.1588T>A (p.Phe530Ile)
c.1294T>A (p.Phe432Ile)
c.1333T>A (p.Phe445Ile)
c.1327T>A (p.Phe443Ile)
c.1723T>A (p.Phe575Ile)
c.1756T>A (p.Phe586Ile)
c.1612T>A (p.Phe538Ile)
c.1471T>A (p.Phe491Ile)
14g.73276770A>CCA487257688NUMBc.1764T>G (p.Ala588=)
c.1620T>G (p.Ala540=)
c.1731T>G (p.Ala577=)
c.1179T>G (p.Ala393=)
c.1146T>G (p.Ala382=)
c.1587T>G (p.Ala529=)
c.1293T>G (p.Ala431=)
c.1332T>G (p.Ala444=)
c.1326T>G (p.Ala442=)
c.1722T>G (p.Ala574=)
c.1755T>G (p.Ala585=)
c.1611T>G (p.Ala537=)
c.1470T>G (p.Ala490=)
14g.73276770A>GCA487257689NUMBc.1764T>C (p.Ala588=)
c.1620T>C (p.Ala540=)
c.1731T>C (p.Ala577=)
c.1179T>C (p.Ala393=)
c.1146T>C (p.Ala382=)
c.1587T>C (p.Ala529=)
c.1293T>C (p.Ala431=)
c.1332T>C (p.Ala444=)
c.1326T>C (p.Ala442=)
c.1722T>C (p.Ala574=)
c.1755T>C (p.Ala585=)
c.1611T>C (p.Ala537=)
c.1470T>C (p.Ala490=)
 gnomAD v4
14g.73276770A>TCA487257690NUMBc.1764T>A (p.Ala588=)
c.1620T>A (p.Ala540=)
c.1731T>A (p.Ala577=)
c.1179T>A (p.Ala393=)
c.1146T>A (p.Ala382=)
c.1587T>A (p.Ala529=)
c.1293T>A (p.Ala431=)
c.1332T>A (p.Ala444=)
c.1326T>A (p.Ala442=)
c.1722T>A (p.Ala574=)
c.1755T>A (p.Ala585=)
c.1611T>A (p.Ala537=)
c.1470T>A (p.Ala490=)
14g.73276771G>ACA262630537NUMBc.1763C>T (p.Ala588Val)
c.1619C>T (p.Ala540Val)
c.1730C>T (p.Ala577Val)
c.1178C>T (p.Ala393Val)
c.1145C>T (p.Ala382Val)
c.1586C>T (p.Ala529Val)
c.1292C>T (p.Ala431Val)
c.1331C>T (p.Ala444Val)
c.1325C>T (p.Ala442Val)
c.1721C>T (p.Ala574Val)
c.1754C>T (p.Ala585Val)
c.1610C>T (p.Ala537Val)
c.1469C>T (p.Ala490Val)
 dbSNP gnomAD v4
14g.73276771G>CCA390336498NUMBc.1763C>G (p.Ala588Gly)
c.1619C>G (p.Ala540Gly)
c.1730C>G (p.Ala577Gly)
c.1178C>G (p.Ala393Gly)
c.1145C>G (p.Ala382Gly)
c.1586C>G (p.Ala529Gly)
c.1292C>G (p.Ala431Gly)
c.1331C>G (p.Ala444Gly)
c.1325C>G (p.Ala442Gly)
c.1721C>G (p.Ala574Gly)
c.1754C>G (p.Ala585Gly)
c.1610C>G (p.Ala537Gly)
c.1469C>G (p.Ala490Gly)
14g.73276771G=CA2146520938NUMBc.1763C= (p.Ala588=)
c.1619C= (p.Ala540=)
c.1730C= (p.Ala577=)
c.1178C= (p.Ala393=)
c.1145C= (p.Ala382=)
c.1586C= (p.Ala529=)
c.1292C= (p.Ala431=)
c.1331C= (p.Ala444=)
c.1325C= (p.Ala442=)
c.1721C= (p.Ala574=)
c.1754C= (p.Ala585=)
c.1610C= (p.Ala537=)
c.1469C= (p.Ala490=)
14g.73276771G>TCA390336501NUMBc.1763C>A (p.Ala588Asp)
c.1619C>A (p.Ala540Asp)
c.1730C>A (p.Ala577Asp)
c.1178C>A (p.Ala393Asp)
c.1145C>A (p.Ala382Asp)
c.1586C>A (p.Ala529Asp)
c.1292C>A (p.Ala431Asp)
c.1331C>A (p.Ala444Asp)
c.1325C>A (p.Ala442Asp)
c.1721C>A (p.Ala574Asp)
c.1754C>A (p.Ala585Asp)
c.1610C>A (p.Ala537Asp)
c.1469C>A (p.Ala490Asp)
 COSMIC
14g.73276772C>ACA390336504NUMBc.1762G>T (p.Ala588Ser)
c.1618G>T (p.Ala540Ser)
c.1729G>T (p.Ala577Ser)
c.1177G>T (p.Ala393Ser)
c.1144G>T (p.Ala382Ser)
c.1585G>T (p.Ala529Ser)
c.1291G>T (p.Ala431Ser)
c.1330G>T (p.Ala444Ser)
c.1324G>T (p.Ala442Ser)
c.1720G>T (p.Ala574Ser)
c.1753G>T (p.Ala585Ser)
c.1609G>T (p.Ala537Ser)
c.1468G>T (p.Ala490Ser)
 dbSNP
14g.73276772C=CA2146520939NUMBc.1762G= (p.Ala588=)
c.1618G= (p.Ala540=)
c.1729G= (p.Ala577=)
c.1177G= (p.Ala393=)
c.1144G= (p.Ala382=)
c.1585G= (p.Ala529=)
c.1291G= (p.Ala431=)
c.1330G= (p.Ala444=)
c.1324G= (p.Ala442=)
c.1720G= (p.Ala574=)
c.1753G= (p.Ala585=)
c.1609G= (p.Ala537=)
c.1468G= (p.Ala490=)
14g.73276772C>GCA390336505NUMBc.1762G>C (p.Ala588Pro)
c.1618G>C (p.Ala540Pro)
c.1729G>C (p.Ala577Pro)
c.1177G>C (p.Ala393Pro)
c.1144G>C (p.Ala382Pro)
c.1585G>C (p.Ala529Pro)
c.1291G>C (p.Ala431Pro)
c.1330G>C (p.Ala444Pro)
c.1324G>C (p.Ala442Pro)
c.1720G>C (p.Ala574Pro)
c.1753G>C (p.Ala585Pro)
c.1609G>C (p.Ala537Pro)
c.1468G>C (p.Ala490Pro)
14g.73276772C>TCA390336506NUMBc.1762G>A (p.Ala588Thr)
c.1618G>A (p.Ala540Thr)
c.1729G>A (p.Ala577Thr)
c.1177G>A (p.Ala393Thr)
c.1144G>A (p.Ala382Thr)
c.1585G>A (p.Ala529Thr)
c.1291G>A (p.Ala431Thr)
c.1330G>A (p.Ala444Thr)
c.1324G>A (p.Ala442Thr)
c.1720G>A (p.Ala574Thr)
c.1753G>A (p.Ala585Thr)
c.1609G>A (p.Ala537Thr)
c.1468G>A (p.Ala490Thr)
 dbSNP gnomAD v2 gnomAD v4
14g.73276773T>ACA487257704NUMBc.1761A>T (p.Ala587=)
c.1617A>T (p.Ala539=)
c.1728A>T (p.Ala576=)
c.1176A>T (p.Ala392=)
c.1143A>T (p.Ala381=)
c.1584A>T (p.Ala528=)
c.1290A>T (p.Ala430=)
c.1329A>T (p.Ala443=)
c.1323A>T (p.Ala441=)
c.1719A>T (p.Ala573=)
c.1752A>T (p.Ala584=)
c.1608A>T (p.Ala536=)
c.1467A>T (p.Ala489=)
14g.73276773T>CCA487257703NUMBc.1761A>G (p.Ala587=)
c.1617A>G (p.Ala539=)
c.1728A>G (p.Ala576=)
c.1176A>G (p.Ala392=)
c.1143A>G (p.Ala381=)
c.1584A>G (p.Ala528=)
c.1290A>G (p.Ala430=)
c.1329A>G (p.Ala443=)
c.1323A>G (p.Ala441=)
c.1719A>G (p.Ala573=)
c.1752A>G (p.Ala584=)
c.1608A>G (p.Ala536=)
c.1467A>G (p.Ala489=)
14g.73276773T>GCA487257702NUMBc.1761A>C (p.Ala587=)
c.1617A>C (p.Ala539=)
c.1728A>C (p.Ala576=)
c.1176A>C (p.Ala392=)
c.1143A>C (p.Ala381=)
c.1584A>C (p.Ala528=)
c.1290A>C (p.Ala430=)
c.1329A>C (p.Ala443=)
c.1323A>C (p.Ala441=)
c.1719A>C (p.Ala573=)
c.1752A>C (p.Ala584=)
c.1608A>C (p.Ala536=)
c.1467A>C (p.Ala489=)
14g.73276774G>ACA390336509NUMBc.1760C>T (p.Ala587Val)
c.1616C>T (p.Ala539Val)
c.1727C>T (p.Ala576Val)
c.1175C>T (p.Ala392Val)
c.1142C>T (p.Ala381Val)
c.1583C>T (p.Ala528Val)
c.1289C>T (p.Ala430Val)
c.1328C>T (p.Ala443Val)
c.1322C>T (p.Ala441Val)
c.1718C>T (p.Ala573Val)
c.1751C>T (p.Ala584Val)
c.1607C>T (p.Ala536Val)
c.1466C>T (p.Ala489Val)
14g.73276774G>CCA390336507NUMBc.1760C>G (p.Ala587Gly)
c.1616C>G (p.Ala539Gly)
c.1727C>G (p.Ala576Gly)
c.1175C>G (p.Ala392Gly)
c.1142C>G (p.Ala381Gly)
c.1583C>G (p.Ala528Gly)
c.1289C>G (p.Ala430Gly)
c.1328C>G (p.Ala443Gly)
c.1322C>G (p.Ala441Gly)
c.1718C>G (p.Ala573Gly)
c.1751C>G (p.Ala584Gly)
c.1607C>G (p.Ala536Gly)
c.1466C>G (p.Ala489Gly)
14g.73276774G>TCA390336508NUMBc.1760C>A (p.Ala587Glu)
c.1616C>A (p.Ala539Glu)
c.1727C>A (p.Ala576Glu)
c.1175C>A (p.Ala392Glu)
c.1142C>A (p.Ala381Glu)
c.1583C>A (p.Ala528Glu)
c.1289C>A (p.Ala430Glu)
c.1328C>A (p.Ala443Glu)
c.1322C>A (p.Ala441Glu)
c.1718C>A (p.Ala573Glu)
c.1751C>A (p.Ala584Glu)
c.1607C>A (p.Ala536Glu)
c.1466C>A (p.Ala489Glu)
14g.73276775C>ACA390336512NUMBc.1759G>T (p.Ala587Ser)
c.1615G>T (p.Ala539Ser)
c.1726G>T (p.Ala576Ser)
c.1174G>T (p.Ala392Ser)
c.1141G>T (p.Ala381Ser)
c.1582G>T (p.Ala528Ser)
c.1288G>T (p.Ala430Ser)
c.1327G>T (p.Ala443Ser)
c.1321G>T (p.Ala441Ser)
c.1717G>T (p.Ala573Ser)
c.1750G>T (p.Ala584Ser)
c.1606G>T (p.Ala536Ser)
c.1465G>T (p.Ala489Ser)
14g.73276775C=CA2146520940NUMBc.1759G= (p.Ala587=)
c.1615G= (p.Ala539=)
c.1726G= (p.Ala576=)
c.1174G= (p.Ala392=)
c.1141G= (p.Ala381=)
c.1582G= (p.Ala528=)
c.1288G= (p.Ala430=)
c.1327G= (p.Ala443=)
c.1321G= (p.Ala441=)
c.1717G= (p.Ala573=)
c.1750G= (p.Ala584=)
c.1606G= (p.Ala536=)
c.1465G= (p.Ala489=)
14g.73276775C>GCA390336515NUMBc.1759G>C (p.Ala587Pro)
c.1615G>C (p.Ala539Pro)
c.1726G>C (p.Ala576Pro)
c.1174G>C (p.Ala392Pro)
c.1141G>C (p.Ala381Pro)
c.1582G>C (p.Ala528Pro)
c.1288G>C (p.Ala430Pro)
c.1327G>C (p.Ala443Pro)
c.1321G>C (p.Ala441Pro)
c.1717G>C (p.Ala573Pro)
c.1750G>C (p.Ala584Pro)
c.1606G>C (p.Ala536Pro)
c.1465G>C (p.Ala489Pro)
14g.73276775C>TCA262630539NUMBc.1759G>A (p.Ala587Thr)
c.1615G>A (p.Ala539Thr)
c.1726G>A (p.Ala576Thr)
c.1174G>A (p.Ala392Thr)
c.1141G>A (p.Ala381Thr)
c.1582G>A (p.Ala528Thr)
c.1288G>A (p.Ala430Thr)
c.1327G>A (p.Ala443Thr)
c.1321G>A (p.Ala441Thr)
c.1717G>A (p.Ala573Thr)
c.1750G>A (p.Ala584Thr)
c.1606G>A (p.Ala536Thr)
c.1465G>A (p.Ala489Thr)
 dbSNP gnomAD v3 gnomAD v4
14g.73276776A=CA2146520941NUMBc.1758T= (p.Ser586=)
c.1614T= (p.Ser538=)
c.1725T= (p.Ser575=)
c.1173T= (p.Ser391=)
c.1140T= (p.Ser380=)
c.1581T= (p.Ser527=)
c.1287T= (p.Ser429=)
c.1326T= (p.Ser442=)
c.1320T= (p.Ser440=)
c.1716T= (p.Ser572=)
c.1749T= (p.Ser583=)
c.1605T= (p.Ser535=)
c.1464T= (p.Ser488=)
14g.73276776A>CCA487257713NUMBc.1758T>G (p.Ser586=)
c.1614T>G (p.Ser538=)
c.1725T>G (p.Ser575=)
c.1173T>G (p.Ser391=)
c.1140T>G (p.Ser380=)
c.1581T>G (p.Ser527=)
c.1287T>G (p.Ser429=)
c.1326T>G (p.Ser442=)
c.1320T>G (p.Ser440=)
c.1716T>G (p.Ser572=)
c.1749T>G (p.Ser583=)
c.1605T>G (p.Ser535=)
c.1464T>G (p.Ser488=)
14g.73276776A>GCA7258654NUMBc.1758T>C (p.Ser586=)
c.1614T>C (p.Ser538=)
c.1725T>C (p.Ser575=)
c.1173T>C (p.Ser391=)
c.1140T>C (p.Ser380=)
c.1581T>C (p.Ser527=)
c.1287T>C (p.Ser429=)
c.1326T>C (p.Ser442=)
c.1320T>C (p.Ser440=)
c.1716T>C (p.Ser572=)
c.1749T>C (p.Ser583=)
c.1605T>C (p.Ser535=)
c.1464T>C (p.Ser488=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.73276776A>TCA487257710NUMBc.1758T>A (p.Ser586=)
c.1614T>A (p.Ser538=)
c.1725T>A (p.Ser575=)
c.1173T>A (p.Ser391=)
c.1140T>A (p.Ser380=)
c.1581T>A (p.Ser527=)
c.1287T>A (p.Ser429=)
c.1326T>A (p.Ser442=)
c.1320T>A (p.Ser440=)
c.1716T>A (p.Ser572=)
c.1749T>A (p.Ser583=)
c.1605T>A (p.Ser535=)
c.1464T>A (p.Ser488=)
14g.73276777G>ACA262630541NUMBc.1757C>T (p.Ser586Phe)
c.1613C>T (p.Ser538Phe)
c.1724C>T (p.Ser575Phe)
c.1172C>T (p.Ser391Phe)
c.1139C>T (p.Ser380Phe)
c.1580C>T (p.Ser527Phe)
c.1286C>T (p.Ser429Phe)
c.1325C>T (p.Ser442Phe)
c.1319C>T (p.Ser440Phe)
c.1715C>T (p.Ser572Phe)
c.1748C>T (p.Ser583Phe)
c.1604C>T (p.Ser535Phe)
c.1463C>T (p.Ser488Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.73276777G>CCA390336529NUMBc.1757C>G (p.Ser586Cys)
c.1613C>G (p.Ser538Cys)
c.1724C>G (p.Ser575Cys)
c.1172C>G (p.Ser391Cys)
c.1139C>G (p.Ser380Cys)
c.1580C>G (p.Ser527Cys)
c.1286C>G (p.Ser429Cys)
c.1325C>G (p.Ser442Cys)
c.1319C>G (p.Ser440Cys)
c.1715C>G (p.Ser572Cys)
c.1748C>G (p.Ser583Cys)
c.1604C>G (p.Ser535Cys)
c.1463C>G (p.Ser488Cys)
14g.73276777G=CA2146520942NUMBc.1757C= (p.Ser586=)
c.1613C= (p.Ser538=)
c.1724C= (p.Ser575=)
c.1172C= (p.Ser391=)
c.1139C= (p.Ser380=)
c.1580C= (p.Ser527=)
c.1286C= (p.Ser429=)
c.1325C= (p.Ser442=)
c.1319C= (p.Ser440=)
c.1715C= (p.Ser572=)
c.1748C= (p.Ser583=)
c.1604C= (p.Ser535=)
c.1463C= (p.Ser488=)
14g.73276777G>TCA390336532NUMBc.1757C>A (p.Ser586Tyr)
c.1613C>A (p.Ser538Tyr)
c.1724C>A (p.Ser575Tyr)
c.1172C>A (p.Ser391Tyr)
c.1139C>A (p.Ser380Tyr)
c.1580C>A (p.Ser527Tyr)
c.1286C>A (p.Ser429Tyr)
c.1325C>A (p.Ser442Tyr)
c.1319C>A (p.Ser440Tyr)
c.1715C>A (p.Ser572Tyr)
c.1748C>A (p.Ser583Tyr)
c.1604C>A (p.Ser535Tyr)
c.1463C>A (p.Ser488Tyr)
14g.73276778A>CCA390336534NUMBc.1756T>G (p.Ser586Ala)
c.1612T>G (p.Ser538Ala)
c.1723T>G (p.Ser575Ala)
c.1171T>G (p.Ser391Ala)
c.1138T>G (p.Ser380Ala)
c.1579T>G (p.Ser527Ala)
c.1285T>G (p.Ser429Ala)
c.1324T>G (p.Ser442Ala)
c.1318T>G (p.Ser440Ala)
c.1714T>G (p.Ser572Ala)
c.1747T>G (p.Ser583Ala)
c.1603T>G (p.Ser535Ala)
c.1462T>G (p.Ser488Ala)
14g.73276778A>GCA390336536NUMBc.1756T>C (p.Ser586Pro)
c.1612T>C (p.Ser538Pro)
c.1723T>C (p.Ser575Pro)
c.1171T>C (p.Ser391Pro)
c.1138T>C (p.Ser380Pro)
c.1579T>C (p.Ser527Pro)
c.1285T>C (p.Ser429Pro)
c.1324T>C (p.Ser442Pro)
c.1318T>C (p.Ser440Pro)
c.1714T>C (p.Ser572Pro)
c.1747T>C (p.Ser583Pro)
c.1603T>C (p.Ser535Pro)
c.1462T>C (p.Ser488Pro)
14g.73276778A>TCA390336538NUMBc.1756T>A (p.Ser586Thr)
c.1612T>A (p.Ser538Thr)
c.1723T>A (p.Ser575Thr)
c.1171T>A (p.Ser391Thr)
c.1138T>A (p.Ser380Thr)
c.1579T>A (p.Ser527Thr)
c.1285T>A (p.Ser429Thr)
c.1324T>A (p.Ser442Thr)
c.1318T>A (p.Ser440Thr)
c.1714T>A (p.Ser572Thr)
c.1747T>A (p.Ser583Thr)
c.1603T>A (p.Ser535Thr)
c.1462T>A (p.Ser488Thr)
14g.73276779A>CCA487257721NUMBc.1755T>G (p.Gly585=)
c.1611T>G (p.Gly537=)
c.1722T>G (p.Gly574=)
c.1170T>G (p.Gly390=)
c.1137T>G (p.Gly379=)
c.1578T>G (p.Gly526=)
c.1284T>G (p.Gly428=)
c.1323T>G (p.Gly441=)
c.1317T>G (p.Gly439=)
c.1713T>G (p.Gly571=)
c.1746T>G (p.Gly582=)
c.1602T>G (p.Gly534=)
c.1461T>G (p.Gly487=)
14g.73276779A>GCA487257723NUMBc.1755T>C (p.Gly585=)
c.1611T>C (p.Gly537=)
c.1722T>C (p.Gly574=)
c.1170T>C (p.Gly390=)
c.1137T>C (p.Gly379=)
c.1578T>C (p.Gly526=)
c.1284T>C (p.Gly428=)
c.1323T>C (p.Gly441=)
c.1317T>C (p.Gly439=)
c.1713T>C (p.Gly571=)
c.1746T>C (p.Gly582=)
c.1602T>C (p.Gly534=)
c.1461T>C (p.Gly487=)
14g.73276779A>TCA487257722NUMBc.1755T>A (p.Gly585=)
c.1611T>A (p.Gly537=)
c.1722T>A (p.Gly574=)
c.1170T>A (p.Gly390=)
c.1137T>A (p.Gly379=)
c.1578T>A (p.Gly526=)
c.1284T>A (p.Gly428=)
c.1323T>A (p.Gly441=)
c.1317T>A (p.Gly439=)
c.1713T>A (p.Gly571=)
c.1746T>A (p.Gly582=)
c.1602T>A (p.Gly534=)
c.1461T>A (p.Gly487=)
14g.73276780C>ACA390336541NUMBc.1754G>T (p.Gly585Val)
c.1610G>T (p.Gly537Val)
c.1721G>T (p.Gly574Val)
c.1169G>T (p.Gly390Val)
c.1136G>T (p.Gly379Val)
c.1577G>T (p.Gly526Val)
c.1283G>T (p.Gly428Val)
c.1322G>T (p.Gly441Val)
c.1316G>T (p.Gly439Val)
c.1712G>T (p.Gly571Val)
c.1745G>T (p.Gly582Val)
c.1601G>T (p.Gly534Val)
c.1460G>T (p.Gly487Val)
14g.73276780C>GCA390336542NUMBc.1754G>C (p.Gly585Ala)
c.1610G>C (p.Gly537Ala)
c.1721G>C (p.Gly574Ala)
c.1169G>C (p.Gly390Ala)
c.1136G>C (p.Gly379Ala)
c.1577G>C (p.Gly526Ala)
c.1283G>C (p.Gly428Ala)
c.1322G>C (p.Gly441Ala)
c.1316G>C (p.Gly439Ala)
c.1712G>C (p.Gly571Ala)
c.1745G>C (p.Gly582Ala)
c.1601G>C (p.Gly534Ala)
c.1460G>C (p.Gly487Ala)
14g.73276780C>TCA390336545NUMBc.1754G>A (p.Gly585Asp)
c.1610G>A (p.Gly537Asp)
c.1721G>A (p.Gly574Asp)
c.1169G>A (p.Gly390Asp)
c.1136G>A (p.Gly379Asp)
c.1577G>A (p.Gly526Asp)
c.1283G>A (p.Gly428Asp)
c.1322G>A (p.Gly441Asp)
c.1316G>A (p.Gly439Asp)
c.1712G>A (p.Gly571Asp)
c.1745G>A (p.Gly582Asp)
c.1601G>A (p.Gly534Asp)
c.1460G>A (p.Gly487Asp)
14g.73276781C>ACA390336548NUMBc.1753G>T (p.Gly585Cys)
c.1609G>T (p.Gly537Cys)
c.1720G>T (p.Gly574Cys)
c.1168G>T (p.Gly390Cys)
c.1135G>T (p.Gly379Cys)
c.1576G>T (p.Gly526Cys)
c.1282G>T (p.Gly428Cys)
c.1321G>T (p.Gly441Cys)
c.1315G>T (p.Gly439Cys)
c.1711G>T (p.Gly571Cys)
c.1744G>T (p.Gly582Cys)
c.1600G>T (p.Gly534Cys)
c.1459G>T (p.Gly487Cys)
14g.73276781C=CA2146520943NUMBc.1753G= (p.Gly585=)
c.1609G= (p.Gly537=)
c.1720G= (p.Gly574=)
c.1168G= (p.Gly390=)
c.1135G= (p.Gly379=)
c.1576G= (p.Gly526=)
c.1282G= (p.Gly428=)
c.1321G= (p.Gly441=)
c.1315G= (p.Gly439=)
c.1711G= (p.Gly571=)
c.1744G= (p.Gly582=)
c.1600G= (p.Gly534=)
c.1459G= (p.Gly487=)
14g.73276781C>GCA390336553NUMBc.1753G>C (p.Gly585Arg)
c.1609G>C (p.Gly537Arg)
c.1720G>C (p.Gly574Arg)
c.1168G>C (p.Gly390Arg)
c.1135G>C (p.Gly379Arg)
c.1576G>C (p.Gly526Arg)
c.1282G>C (p.Gly428Arg)
c.1321G>C (p.Gly441Arg)
c.1315G>C (p.Gly439Arg)
c.1711G>C (p.Gly571Arg)
c.1744G>C (p.Gly582Arg)
c.1600G>C (p.Gly534Arg)
c.1459G>C (p.Gly487Arg)
14g.73276781C>TCA7258655NUMBc.1753G>A (p.Gly585Ser)
c.1609G>A (p.Gly537Ser)
c.1720G>A (p.Gly574Ser)
c.1168G>A (p.Gly390Ser)
c.1135G>A (p.Gly379Ser)
c.1576G>A (p.Gly526Ser)
c.1282G>A (p.Gly428Ser)
c.1321G>A (p.Gly441Ser)
c.1315G>A (p.Gly439Ser)
c.1711G>A (p.Gly571Ser)
c.1744G>A (p.Gly582Ser)
c.1600G>A (p.Gly534Ser)
c.1459G>A (p.Gly487Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.73276782G>ACA7258656NUMBc.1752C>T (p.Asn584=)
c.1608C>T (p.Asn536=)
c.1719C>T (p.Asn573=)
c.1167C>T (p.Asn389=)
c.1134C>T (p.Asn378=)
c.1575C>T (p.Asn525=)
c.1281C>T (p.Asn427=)
c.1320C>T (p.Asn440=)
c.1314C>T (p.Asn438=)
c.1710C>T (p.Asn570=)
c.1743C>T (p.Asn581=)
c.1599C>T (p.Asn533=)
c.1458C>T (p.Asn486=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.73276782G>CCA390336558NUMBc.1752C>G (p.Asn584Lys)
c.1608C>G (p.Asn536Lys)
c.1719C>G (p.Asn573Lys)
c.1167C>G (p.Asn389Lys)
c.1134C>G (p.Asn378Lys)
c.1575C>G (p.Asn525Lys)
c.1281C>G (p.Asn427Lys)
c.1320C>G (p.Asn440Lys)
c.1314C>G (p.Asn438Lys)
c.1710C>G (p.Asn570Lys)
c.1743C>G (p.Asn581Lys)
c.1599C>G (p.Asn533Lys)
c.1458C>G (p.Asn486Lys)
14g.73276782G=CA2146520944NUMBc.1752C= (p.Asn584=)
c.1608C= (p.Asn536=)
c.1719C= (p.Asn573=)
c.1167C= (p.Asn389=)
c.1134C= (p.Asn378=)
c.1575C= (p.Asn525=)
c.1281C= (p.Asn427=)
c.1320C= (p.Asn440=)
c.1314C= (p.Asn438=)
c.1710C= (p.Asn570=)
c.1743C= (p.Asn581=)
c.1599C= (p.Asn533=)
c.1458C= (p.Asn486=)
14g.73276782G>TCA390336560NUMBc.1752C>A (p.Asn584Lys)
c.1608C>A (p.Asn536Lys)
c.1719C>A (p.Asn573Lys)
c.1167C>A (p.Asn389Lys)
c.1134C>A (p.Asn378Lys)
c.1575C>A (p.Asn525Lys)
c.1281C>A (p.Asn427Lys)
c.1320C>A (p.Asn440Lys)
c.1314C>A (p.Asn438Lys)
c.1710C>A (p.Asn570Lys)
c.1743C>A (p.Asn581Lys)
c.1599C>A (p.Asn533Lys)
c.1458C>A (p.Asn486Lys)
 gnomAD v4
14g.73276783T>ACA390336563NUMBc.1751A>T (p.Asn584Ile)
c.1607A>T (p.Asn536Ile)
c.1718A>T (p.Asn573Ile)
c.1166A>T (p.Asn389Ile)
c.1133A>T (p.Asn378Ile)
c.1574A>T (p.Asn525Ile)
c.1280A>T (p.Asn427Ile)
c.1319A>T (p.Asn440Ile)
c.1313A>T (p.Asn438Ile)
c.1709A>T (p.Asn570Ile)
c.1742A>T (p.Asn581Ile)
c.1598A>T (p.Asn533Ile)
c.1457A>T (p.Asn486Ile)
14g.73276783T>CCA7258657NUMBc.1751A>G (p.Asn584Ser)
c.1607A>G (p.Asn536Ser)
c.1718A>G (p.Asn573Ser)
c.1166A>G (p.Asn389Ser)
c.1133A>G (p.Asn378Ser)
c.1574A>G (p.Asn525Ser)
c.1280A>G (p.Asn427Ser)
c.1319A>G (p.Asn440Ser)
c.1313A>G (p.Asn438Ser)
c.1709A>G (p.Asn570Ser)
c.1742A>G (p.Asn581Ser)
c.1598A>G (p.Asn533Ser)
c.1457A>G (p.Asn486Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.73276783T>GCA390336564NUMBc.1751A>C (p.Asn584Thr)
c.1607A>C (p.Asn536Thr)
c.1718A>C (p.Asn573Thr)
c.1166A>C (p.Asn389Thr)
c.1133A>C (p.Asn378Thr)
c.1574A>C (p.Asn525Thr)
c.1280A>C (p.Asn427Thr)
c.1319A>C (p.Asn440Thr)
c.1313A>C (p.Asn438Thr)
c.1709A>C (p.Asn570Thr)
c.1742A>C (p.Asn581Thr)
c.1598A>C (p.Asn533Thr)
c.1457A>C (p.Asn486Thr)
14g.73276783T=CA2146520945NUMBc.1751A= (p.Asn584=)
c.1607A= (p.Asn536=)
c.1718A= (p.Asn573=)
c.1166A= (p.Asn389=)
c.1133A= (p.Asn378=)
c.1574A= (p.Asn525=)
c.1280A= (p.Asn427=)
c.1319A= (p.Asn440=)
c.1313A= (p.Asn438=)
c.1709A= (p.Asn570=)
c.1742A= (p.Asn581=)
c.1598A= (p.Asn533=)
c.1457A= (p.Asn486=)
14g.73276784T>ACA390336565NUMBc.1750A>T (p.Asn584Tyr)
c.1606A>T (p.Asn536Tyr)
c.1717A>T (p.Asn573Tyr)
c.1165A>T (p.Asn389Tyr)
c.1132A>T (p.Asn378Tyr)
c.1573A>T (p.Asn525Tyr)
c.1279A>T (p.Asn427Tyr)
c.1318A>T (p.Asn440Tyr)
c.1312A>T (p.Asn438Tyr)
c.1708A>T (p.Asn570Tyr)
c.1741A>T (p.Asn581Tyr)
c.1597A>T (p.Asn533Tyr)
c.1456A>T (p.Asn486Tyr)
14g.73276784T>CCA390336566NUMBc.1750A>G (p.Asn584Asp)
c.1606A>G (p.Asn536Asp)
c.1717A>G (p.Asn573Asp)
c.1165A>G (p.Asn389Asp)
c.1132A>G (p.Asn378Asp)
c.1573A>G (p.Asn525Asp)
c.1279A>G (p.Asn427Asp)
c.1318A>G (p.Asn440Asp)
c.1312A>G (p.Asn438Asp)
c.1708A>G (p.Asn570Asp)
c.1741A>G (p.Asn581Asp)
c.1597A>G (p.Asn533Asp)
c.1456A>G (p.Asn486Asp)
14g.73276784T>GCA390336568NUMBc.1750A>C (p.Asn584His)
c.1606A>C (p.Asn536His)
c.1717A>C (p.Asn573His)
c.1165A>C (p.Asn389His)
c.1132A>C (p.Asn378His)
c.1573A>C (p.Asn525His)
c.1279A>C (p.Asn427His)
c.1318A>C (p.Asn440His)
c.1312A>C (p.Asn438His)
c.1708A>C (p.Asn570His)
c.1741A>C (p.Asn581His)
c.1597A>C (p.Asn533His)
c.1456A>C (p.Asn486His)
14g.73276785G>ACA487257734NUMBc.1749C>T (p.Leu583=)
c.1605C>T (p.Leu535=)
c.1716C>T (p.Leu572=)
c.1164C>T (p.Leu388=)
c.1131C>T (p.Leu377=)
c.1572C>T (p.Leu524=)
c.1278C>T (p.Leu426=)
c.1317C>T (p.Leu439=)
c.1311C>T (p.Leu437=)
c.1707C>T (p.Leu569=)
c.1740C>T (p.Leu580=)
c.1596C>T (p.Leu532=)
c.1455C>T (p.Leu485=)
 dbSNP gnomAD v2 gnomAD v4
14g.73276785G>CCA7258658NUMBc.1749C>G (p.Leu583=)
c.1605C>G (p.Leu535=)
c.1716C>G (p.Leu572=)
c.1164C>G (p.Leu388=)
c.1131C>G (p.Leu377=)
c.1572C>G (p.Leu524=)
c.1278C>G (p.Leu426=)
c.1317C>G (p.Leu439=)
c.1311C>G (p.Leu437=)
c.1707C>G (p.Leu569=)
c.1740C>G (p.Leu580=)
c.1596C>G (p.Leu532=)
c.1455C>G (p.Leu485=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.73276785G=CA2146520946NUMBc.1749C= (p.Leu583=)
c.1605C= (p.Leu535=)
c.1716C= (p.Leu572=)
c.1164C= (p.Leu388=)
c.1131C= (p.Leu377=)
c.1572C= (p.Leu524=)
c.1278C= (p.Leu426=)
c.1317C= (p.Leu439=)
c.1311C= (p.Leu437=)
c.1707C= (p.Leu569=)
c.1740C= (p.Leu580=)
c.1596C= (p.Leu532=)
c.1455C= (p.Leu485=)
14g.73276785G>TCA487257738NUMBc.1749C>A (p.Leu583=)
c.1605C>A (p.Leu535=)
c.1716C>A (p.Leu572=)
c.1164C>A (p.Leu388=)
c.1131C>A (p.Leu377=)
c.1572C>A (p.Leu524=)
c.1278C>A (p.Leu426=)
c.1317C>A (p.Leu439=)
c.1311C>A (p.Leu437=)
c.1707C>A (p.Leu569=)
c.1740C>A (p.Leu580=)
c.1596C>A (p.Leu532=)
c.1455C>A (p.Leu485=)
14g.73276786A>CCA390336571NUMBc.1748T>G (p.Leu583Arg)
c.1604T>G (p.Leu535Arg)
c.1715T>G (p.Leu572Arg)
c.1163T>G (p.Leu388Arg)
c.1130T>G (p.Leu377Arg)
c.1571T>G (p.Leu524Arg)
c.1277T>G (p.Leu426Arg)
c.1316T>G (p.Leu439Arg)
c.1310T>G (p.Leu437Arg)
c.1706T>G (p.Leu569Arg)
c.1739T>G (p.Leu580Arg)
c.1595T>G (p.Leu532Arg)
c.1454T>G (p.Leu485Arg)
14g.73276786A>GCA390336573NUMBc.1748T>C (p.Leu583Pro)
c.1604T>C (p.Leu535Pro)
c.1715T>C (p.Leu572Pro)
c.1163T>C (p.Leu388Pro)
c.1130T>C (p.Leu377Pro)
c.1571T>C (p.Leu524Pro)
c.1277T>C (p.Leu426Pro)
c.1316T>C (p.Leu439Pro)
c.1310T>C (p.Leu437Pro)
c.1706T>C (p.Leu569Pro)
c.1739T>C (p.Leu580Pro)
c.1595T>C (p.Leu532Pro)
c.1454T>C (p.Leu485Pro)
14g.73276786A>TCA390336576NUMBc.1748T>A (p.Leu583His)
c.1604T>A (p.Leu535His)
c.1715T>A (p.Leu572His)
c.1163T>A (p.Leu388His)
c.1130T>A (p.Leu377His)
c.1571T>A (p.Leu524His)
c.1277T>A (p.Leu426His)
c.1316T>A (p.Leu439His)
c.1310T>A (p.Leu437His)
c.1706T>A (p.Leu569His)
c.1739T>A (p.Leu580His)
c.1595T>A (p.Leu532His)
c.1454T>A (p.Leu485His)
14g.73276787G>ACA7258659NUMBc.1747C>T (p.Leu583Phe)
c.1603C>T (p.Leu535Phe)
c.1714C>T (p.Leu572Phe)
c.1162C>T (p.Leu388Phe)
c.1129C>T (p.Leu377Phe)
c.1570C>T (p.Leu524Phe)
c.1276C>T (p.Leu426Phe)
c.1315C>T (p.Leu439Phe)
c.1309C>T (p.Leu437Phe)
c.1705C>T (p.Leu569Phe)
c.1738C>T (p.Leu580Phe)
c.1594C>T (p.Leu532Phe)
c.1453C>T (p.Leu485Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.73276787G>CCA390336582NUMBc.1747C>G (p.Leu583Val)
c.1603C>G (p.Leu535Val)
c.1714C>G (p.Leu572Val)
c.1162C>G (p.Leu388Val)
c.1129C>G (p.Leu377Val)
c.1570C>G (p.Leu524Val)
c.1276C>G (p.Leu426Val)
c.1315C>G (p.Leu439Val)
c.1309C>G (p.Leu437Val)
c.1705C>G (p.Leu569Val)
c.1738C>G (p.Leu580Val)
c.1594C>G (p.Leu532Val)
c.1453C>G (p.Leu485Val)
14g.73276787G=CA2146520947NUMBc.1747C= (p.Leu583=)
c.1603C= (p.Leu535=)
c.1714C= (p.Leu572=)
c.1162C= (p.Leu388=)
c.1129C= (p.Leu377=)
c.1570C= (p.Leu524=)
c.1276C= (p.Leu426=)
c.1315C= (p.Leu439=)
c.1309C= (p.Leu437=)
c.1705C= (p.Leu569=)
c.1738C= (p.Leu580=)
c.1594C= (p.Leu532=)
c.1453C= (p.Leu485=)
14g.73276787G>TCA390336585NUMBc.1747C>A (p.Leu583Ile)
c.1603C>A (p.Leu535Ile)
c.1714C>A (p.Leu572Ile)
c.1162C>A (p.Leu388Ile)
c.1129C>A (p.Leu377Ile)
c.1570C>A (p.Leu524Ile)
c.1276C>A (p.Leu426Ile)
c.1315C>A (p.Leu439Ile)
c.1309C>A (p.Leu437Ile)
c.1705C>A (p.Leu569Ile)
c.1738C>A (p.Leu580Ile)
c.1594C>A (p.Leu532Ile)
c.1453C>A (p.Leu485Ile)
14g.73276788G>ACA7258660NUMBc.1746C>T (p.His582=)
c.1602C>T (p.His534=)
c.1713C>T (p.His571=)
c.1161C>T (p.His387=)
c.1128C>T (p.His376=)
c.1569C>T (p.His523=)
c.1275C>T (p.His425=)
c.1314C>T (p.His438=)
c.1308C>T (p.His436=)
c.1704C>T (p.His568=)
c.1737C>T (p.His579=)
c.1593C>T (p.His531=)
c.1452C>T (p.His484=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.73276788G>CCA390336591NUMBc.1746C>G (p.His582Gln)
c.1602C>G (p.His534Gln)
c.1713C>G (p.His571Gln)
c.1161C>G (p.His387Gln)
c.1128C>G (p.His376Gln)
c.1569C>G (p.His523Gln)
c.1275C>G (p.His425Gln)
c.1314C>G (p.His438Gln)
c.1308C>G (p.His436Gln)
c.1704C>G (p.His568Gln)
c.1737C>G (p.His579Gln)
c.1593C>G (p.His531Gln)
c.1452C>G (p.His484Gln)
14g.73276788G=CA2146520948NUMBc.1746C= (p.His582=)
c.1602C= (p.His534=)
c.1713C= (p.His571=)
c.1161C= (p.His387=)
c.1128C= (p.His376=)
c.1569C= (p.His523=)
c.1275C= (p.His425=)
c.1314C= (p.His438=)
c.1308C= (p.His436=)
c.1704C= (p.His568=)
c.1737C= (p.His579=)
c.1593C= (p.His531=)
c.1452C= (p.His484=)
14g.73276788G>TCA390336593NUMBc.1746C>A (p.His582Gln)
c.1602C>A (p.His534Gln)
c.1713C>A (p.His571Gln)
c.1161C>A (p.His387Gln)
c.1128C>A (p.His376Gln)
c.1569C>A (p.His523Gln)
c.1275C>A (p.His425Gln)
c.1314C>A (p.His438Gln)
c.1308C>A (p.His436Gln)
c.1704C>A (p.His568Gln)
c.1737C>A (p.His579Gln)
c.1593C>A (p.His531Gln)
c.1452C>A (p.His484Gln)
14g.73276789T>ACA390336598NUMBc.1745A>T (p.His582Leu)
c.1601A>T (p.His534Leu)
c.1712A>T (p.His571Leu)
c.1160A>T (p.His387Leu)
c.1127A>T (p.His376Leu)
c.1568A>T (p.His523Leu)
c.1274A>T (p.His425Leu)
c.1313A>T (p.His438Leu)
c.1307A>T (p.His436Leu)
c.1703A>T (p.His568Leu)
c.1736A>T (p.His579Leu)
c.1592A>T (p.His531Leu)
c.1451A>T (p.His484Leu)
14g.73276789T>CCA390336601NUMBc.1745A>G (p.His582Arg)
c.1601A>G (p.His534Arg)
c.1712A>G (p.His571Arg)
c.1160A>G (p.His387Arg)
c.1127A>G (p.His376Arg)
c.1568A>G (p.His523Arg)
c.1274A>G (p.His425Arg)
c.1313A>G (p.His438Arg)
c.1307A>G (p.His436Arg)
c.1703A>G (p.His568Arg)
c.1736A>G (p.His579Arg)
c.1592A>G (p.His531Arg)
c.1451A>G (p.His484Arg)
 COSMIC
14g.73276789T>GCA390336603NUMBc.1745A>C (p.His582Pro)
c.1601A>C (p.His534Pro)
c.1712A>C (p.His571Pro)
c.1160A>C (p.His387Pro)
c.1127A>C (p.His376Pro)
c.1568A>C (p.His523Pro)
c.1274A>C (p.His425Pro)
c.1313A>C (p.His438Pro)
c.1307A>C (p.His436Pro)
c.1703A>C (p.His568Pro)
c.1736A>C (p.His579Pro)
c.1592A>C (p.His531Pro)
c.1451A>C (p.His484Pro)
14g.73276790G>ACA390336606NUMBc.1744C>T (p.His582Tyr)
c.1600C>T (p.His534Tyr)
c.1711C>T (p.His571Tyr)
c.1159C>T (p.His387Tyr)
c.1126C>T (p.His376Tyr)
c.1567C>T (p.His523Tyr)
c.1273C>T (p.His425Tyr)
c.1312C>T (p.His438Tyr)
c.1306C>T (p.His436Tyr)
c.1702C>T (p.His568Tyr)
c.1735C>T (p.His579Tyr)
c.1591C>T (p.His531Tyr)
c.1450C>T (p.His484Tyr)
 COSMIC
14g.73276790G>CCA390336609NUMBc.1744C>G (p.His582Asp)
c.1600C>G (p.His534Asp)
c.1711C>G (p.His571Asp)
c.1159C>G (p.His387Asp)
c.1126C>G (p.His376Asp)
c.1567C>G (p.His523Asp)
c.1273C>G (p.His425Asp)
c.1312C>G (p.His438Asp)
c.1306C>G (p.His436Asp)
c.1702C>G (p.His568Asp)
c.1735C>G (p.His579Asp)
c.1591C>G (p.His531Asp)
c.1450C>G (p.His484Asp)
14g.73276790G>TCA390336612NUMBc.1744C>A (p.His582Asn)
c.1600C>A (p.His534Asn)
c.1711C>A (p.His571Asn)
c.1159C>A (p.His387Asn)
c.1126C>A (p.His376Asn)
c.1567C>A (p.His523Asn)
c.1273C>A (p.His425Asn)
c.1312C>A (p.His438Asn)
c.1306C>A (p.His436Asn)
c.1702C>A (p.His568Asn)
c.1735C>A (p.His579Asn)
c.1591C>A (p.His531Asn)
c.1450C>A (p.His484Asn)
14g.73276791C>ACA390336615NUMBc.1743G>T (p.Gln581His)
c.1599G>T (p.Gln533His)
c.1710G>T (p.Gln570His)
c.1158G>T (p.Gln386His)
c.1125G>T (p.Gln375His)
c.1566G>T (p.Gln522His)
c.1272G>T (p.Gln424His)
c.1311G>T (p.Gln437His)
c.1305G>T (p.Gln435His)
c.1701G>T (p.Gln567His)
c.1734G>T (p.Gln578His)
c.1590G>T (p.Gln530His)
c.1449G>T (p.Gln483His)
14g.73276791C=CA2146520949NUMBc.1743G= (p.Gln581=)
c.1599G= (p.Gln533=)
c.1710G= (p.Gln570=)
c.1158G= (p.Gln386=)
c.1125G= (p.Gln375=)
c.1566G= (p.Gln522=)
c.1272G= (p.Gln424=)
c.1311G= (p.Gln437=)
c.1305G= (p.Gln435=)
c.1701G= (p.Gln567=)
c.1734G= (p.Gln578=)
c.1590G= (p.Gln530=)
c.1449G= (p.Gln483=)
14g.73276791C>GCA390336617NUMBc.1743G>C (p.Gln581His)
c.1599G>C (p.Gln533His)
c.1710G>C (p.Gln570His)
c.1158G>C (p.Gln386His)
c.1125G>C (p.Gln375His)
c.1566G>C (p.Gln522His)
c.1272G>C (p.Gln424His)
c.1311G>C (p.Gln437His)
c.1305G>C (p.Gln435His)
c.1701G>C (p.Gln567His)
c.1734G>C (p.Gln578His)
c.1590G>C (p.Gln530His)
c.1449G>C (p.Gln483His)
14g.73276791C>TCA487257752NUMBc.1743G>A (p.Gln581=)
c.1599G>A (p.Gln533=)
c.1710G>A (p.Gln570=)
c.1158G>A (p.Gln386=)
c.1125G>A (p.Gln375=)
c.1566G>A (p.Gln522=)
c.1272G>A (p.Gln424=)
c.1311G>A (p.Gln437=)
c.1305G>A (p.Gln435=)
c.1701G>A (p.Gln567=)
c.1734G>A (p.Gln578=)
c.1590G>A (p.Gln530=)
c.1449G>A (p.Gln483=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.73276792T>ACA390336624NUMBc.1742A>T (p.Gln581Leu)
c.1598A>T (p.Gln533Leu)
c.1709A>T (p.Gln570Leu)
c.1157A>T (p.Gln386Leu)
c.1124A>T (p.Gln375Leu)
c.1565A>T (p.Gln522Leu)
c.1271A>T (p.Gln424Leu)
c.1310A>T (p.Gln437Leu)
c.1304A>T (p.Gln435Leu)
c.1700A>T (p.Gln567Leu)
c.1733A>T (p.Gln578Leu)
c.1589A>T (p.Gln530Leu)
c.1448A>T (p.Gln483Leu)
14g.73276792T>CCA262630549NUMBc.1742A>G (p.Gln581Arg)
c.1598A>G (p.Gln533Arg)
c.1709A>G (p.Gln570Arg)
c.1157A>G (p.Gln386Arg)
c.1124A>G (p.Gln375Arg)
c.1565A>G (p.Gln522Arg)
c.1271A>G (p.Gln424Arg)
c.1310A>G (p.Gln437Arg)
c.1304A>G (p.Gln435Arg)
c.1700A>G (p.Gln567Arg)
c.1733A>G (p.Gln578Arg)
c.1589A>G (p.Gln530Arg)
c.1448A>G (p.Gln483Arg)
 dbSNP gnomAD v4
14g.73276792T>GCA390336620NUMBc.1742A>C (p.Gln581Pro)
c.1598A>C (p.Gln533Pro)
c.1709A>C (p.Gln570Pro)
c.1157A>C (p.Gln386Pro)
c.1124A>C (p.Gln375Pro)
c.1565A>C (p.Gln522Pro)
c.1271A>C (p.Gln424Pro)
c.1310A>C (p.Gln437Pro)
c.1304A>C (p.Gln435Pro)
c.1700A>C (p.Gln567Pro)
c.1733A>C (p.Gln578Pro)
c.1589A>C (p.Gln530Pro)
c.1448A>C (p.Gln483Pro)
 gnomAD v4
14g.73276792T=CA2146520950NUMBc.1742A= (p.Gln581=)
c.1598A= (p.Gln533=)
c.1709A= (p.Gln570=)
c.1157A= (p.Gln386=)
c.1124A= (p.Gln375=)
c.1565A= (p.Gln522=)
c.1271A= (p.Gln424=)
c.1310A= (p.Gln437=)
c.1304A= (p.Gln435=)
c.1700A= (p.Gln567=)
c.1733A= (p.Gln578=)
c.1589A= (p.Gln530=)
c.1448A= (p.Gln483=)
14g.73276793G>ACA390336627NUMBc.1741C>T (p.Gln581Ter)
c.1597C>T (p.Gln533Ter)
c.1708C>T (p.Gln570Ter)
c.1156C>T (p.Gln386Ter)
c.1123C>T (p.Gln375Ter)
c.1564C>T (p.Gln522Ter)
c.1270C>T (p.Gln424Ter)
c.1309C>T (p.Gln437Ter)
c.1303C>T (p.Gln435Ter)
c.1699C>T (p.Gln567Ter)
c.1732C>T (p.Gln578Ter)
c.1588C>T (p.Gln530Ter)
c.1447C>T (p.Gln483Ter)
 dbSNP
14g.73276793G>CCA390336632NUMBc.1741C>G (p.Gln581Glu)
c.1597C>G (p.Gln533Glu)
c.1708C>G (p.Gln570Glu)
c.1156C>G (p.Gln386Glu)
c.1123C>G (p.Gln375Glu)
c.1564C>G (p.Gln522Glu)
c.1270C>G (p.Gln424Glu)
c.1309C>G (p.Gln437Glu)
c.1303C>G (p.Gln435Glu)
c.1699C>G (p.Gln567Glu)
c.1732C>G (p.Gln578Glu)
c.1588C>G (p.Gln530Glu)
c.1447C>G (p.Gln483Glu)
 gnomAD v4
14g.73276793G>TCA390336629NUMBc.1741C>A (p.Gln581Lys)
c.1597C>A (p.Gln533Lys)
c.1708C>A (p.Gln570Lys)
c.1156C>A (p.Gln386Lys)
c.1123C>A (p.Gln375Lys)
c.1564C>A (p.Gln522Lys)
c.1270C>A (p.Gln424Lys)
c.1309C>A (p.Gln437Lys)
c.1303C>A (p.Gln435Lys)
c.1699C>A (p.Gln567Lys)
c.1732C>A (p.Gln578Lys)
c.1588C>A (p.Gln530Lys)
c.1447C>A (p.Gln483Lys)
14g.73276794A>CCA487257759NUMBc.1740T>G (p.Ala580=)
c.1596T>G (p.Ala532=)
c.1707T>G (p.Ala569=)
c.1155T>G (p.Ala385=)
c.1122T>G (p.Ala374=)
c.1563T>G (p.Ala521=)
c.1269T>G (p.Ala423=)
c.1308T>G (p.Ala436=)
c.1302T>G (p.Ala434=)
c.1698T>G (p.Ala566=)
c.1731T>G (p.Ala577=)
c.1587T>G (p.Ala529=)
c.1446T>G (p.Ala482=)
14g.73276794A>GCA487257762NUMBc.1740T>C (p.Ala580=)
c.1596T>C (p.Ala532=)
c.1707T>C (p.Ala569=)
c.1155T>C (p.Ala385=)
c.1122T>C (p.Ala374=)
c.1563T>C (p.Ala521=)
c.1269T>C (p.Ala423=)
c.1308T>C (p.Ala436=)
c.1302T>C (p.Ala434=)
c.1698T>C (p.Ala566=)
c.1731T>C (p.Ala577=)
c.1587T>C (p.Ala529=)
c.1446T>C (p.Ala482=)
14g.73276794A>TCA487257764NUMBc.1740T>A (p.Ala580=)
c.1596T>A (p.Ala532=)
c.1707T>A (p.Ala569=)
c.1155T>A (p.Ala385=)
c.1122T>A (p.Ala374=)
c.1563T>A (p.Ala521=)
c.1269T>A (p.Ala423=)
c.1308T>A (p.Ala436=)
c.1302T>A (p.Ala434=)
c.1698T>A (p.Ala566=)
c.1731T>A (p.Ala577=)
c.1587T>A (p.Ala529=)
c.1446T>A (p.Ala482=)
14g.73276795G>ACA390336634NUMBc.1739C>T (p.Ala580Val)
c.1595C>T (p.Ala532Val)
c.1706C>T (p.Ala569Val)
c.1154C>T (p.Ala385Val)
c.1121C>T (p.Ala374Val)
c.1562C>T (p.Ala521Val)
c.1268C>T (p.Ala423Val)
c.1307C>T (p.Ala436Val)
c.1301C>T (p.Ala434Val)
c.1697C>T (p.Ala566Val)
c.1730C>T (p.Ala577Val)
c.1586C>T (p.Ala529Val)
c.1445C>T (p.Ala482Val)
 dbSNP gnomAD v3 gnomAD v4
14g.73276795G>CCA390336639NUMBc.1739C>G (p.Ala580Gly)
c.1595C>G (p.Ala532Gly)
c.1706C>G (p.Ala569Gly)
c.1154C>G (p.Ala385Gly)
c.1121C>G (p.Ala374Gly)
c.1562C>G (p.Ala521Gly)
c.1268C>G (p.Ala423Gly)
c.1307C>G (p.Ala436Gly)
c.1301C>G (p.Ala434Gly)
c.1697C>G (p.Ala566Gly)
c.1730C>G (p.Ala577Gly)
c.1586C>G (p.Ala529Gly)
c.1445C>G (p.Ala482Gly)
14g.73276795G>TCA390336636NUMBc.1739C>A (p.Ala580Asp)
c.1595C>A (p.Ala532Asp)
c.1706C>A (p.Ala569Asp)
c.1154C>A (p.Ala385Asp)
c.1121C>A (p.Ala374Asp)
c.1562C>A (p.Ala521Asp)
c.1268C>A (p.Ala423Asp)
c.1307C>A (p.Ala436Asp)
c.1301C>A (p.Ala434Asp)
c.1697C>A (p.Ala566Asp)
c.1730C>A (p.Ala577Asp)
c.1586C>A (p.Ala529Asp)
c.1445C>A (p.Ala482Asp)
14g.73276796C>ACA390336641NUMBc.1738G>T (p.Ala580Ser)
c.1594G>T (p.Ala532Ser)
c.1705G>T (p.Ala569Ser)
c.1153G>T (p.Ala385Ser)
c.1120G>T (p.Ala374Ser)
c.1561G>T (p.Ala521Ser)
c.1267G>T (p.Ala423Ser)
c.1306G>T (p.Ala436Ser)
c.1300G>T (p.Ala434Ser)
c.1696G>T (p.Ala566Ser)
c.1729G>T (p.Ala577Ser)
c.1585G>T (p.Ala529Ser)
c.1444G>T (p.Ala482Ser)
 dbSNP gnomAD v3 gnomAD v4
14g.73276796C>GCA390336646NUMBc.1738G>C (p.Ala580Pro)
c.1594G>C (p.Ala532Pro)
c.1705G>C (p.Ala569Pro)
c.1153G>C (p.Ala385Pro)
c.1120G>C (p.Ala374Pro)
c.1561G>C (p.Ala521Pro)
c.1267G>C (p.Ala423Pro)
c.1306G>C (p.Ala436Pro)
c.1300G>C (p.Ala434Pro)
c.1696G>C (p.Ala566Pro)
c.1729G>C (p.Ala577Pro)
c.1585G>C (p.Ala529Pro)
c.1444G>C (p.Ala482Pro)
14g.73276796C>TCA390336644NUMBc.1738G>A (p.Ala580Thr)
c.1594G>A (p.Ala532Thr)
c.1705G>A (p.Ala569Thr)
c.1153G>A (p.Ala385Thr)
c.1120G>A (p.Ala374Thr)
c.1561G>A (p.Ala521Thr)
c.1267G>A (p.Ala423Thr)
c.1306G>A (p.Ala436Thr)
c.1300G>A (p.Ala434Thr)
c.1696G>A (p.Ala566Thr)
c.1729G>A (p.Ala577Thr)
c.1585G>A (p.Ala529Thr)
c.1444G>A (p.Ala482Thr)
 gnomAD v4
14g.73276797A>CCA487257768NUMBc.1737T>G (p.Pro579=)
c.1593T>G (p.Pro531=)
c.1704T>G (p.Pro568=)
c.1152T>G (p.Pro384=)
c.1119T>G (p.Pro373=)
c.1560T>G (p.Pro520=)
c.1266T>G (p.Pro422=)
c.1305T>G (p.Pro435=)
c.1299T>G (p.Pro433=)
c.1695T>G (p.Pro565=)
c.1728T>G (p.Pro576=)
c.1584T>G (p.Pro528=)
c.1443T>G (p.Pro481=)
14g.73276797A>GCA487257769NUMBc.1737T>C (p.Pro579=)
c.1593T>C (p.Pro531=)
c.1704T>C (p.Pro568=)
c.1152T>C (p.Pro384=)
c.1119T>C (p.Pro373=)
c.1560T>C (p.Pro520=)
c.1266T>C (p.Pro422=)
c.1305T>C (p.Pro435=)
c.1299T>C (p.Pro433=)
c.1695T>C (p.Pro565=)
c.1728T>C (p.Pro576=)
c.1584T>C (p.Pro528=)
c.1443T>C (p.Pro481=)
14g.73276797A>TCA487257770NUMBc.1737T>A (p.Pro579=)
c.1593T>A (p.Pro531=)
c.1704T>A (p.Pro568=)
c.1152T>A (p.Pro384=)
c.1119T>A (p.Pro373=)
c.1560T>A (p.Pro520=)
c.1266T>A (p.Pro422=)
c.1305T>A (p.Pro435=)
c.1299T>A (p.Pro433=)
c.1695T>A (p.Pro565=)
c.1728T>A (p.Pro576=)
c.1584T>A (p.Pro528=)
c.1443T>A (p.Pro481=)
14g.73276798G>ACA390336649NUMBc.1736C>T (p.Pro579Leu)
c.1592C>T (p.Pro531Leu)
c.1703C>T (p.Pro568Leu)
c.1151C>T (p.Pro384Leu)
c.1118C>T (p.Pro373Leu)
c.1559C>T (p.Pro520Leu)
c.1265C>T (p.Pro422Leu)
c.1304C>T (p.Pro435Leu)
c.1298C>T (p.Pro433Leu)
c.1694C>T (p.Pro565Leu)
c.1727C>T (p.Pro576Leu)
c.1583C>T (p.Pro528Leu)
c.1442C>T (p.Pro481Leu)
 COSMIC
14g.73276798G>CCA390336651NUMBc.1736C>G (p.Pro579Arg)
c.1592C>G (p.Pro531Arg)
c.1703C>G (p.Pro568Arg)
c.1151C>G (p.Pro384Arg)
c.1118C>G (p.Pro373Arg)
c.1559C>G (p.Pro520Arg)
c.1265C>G (p.Pro422Arg)
c.1304C>G (p.Pro435Arg)
c.1298C>G (p.Pro433Arg)
c.1694C>G (p.Pro565Arg)
c.1727C>G (p.Pro576Arg)
c.1583C>G (p.Pro528Arg)
c.1442C>G (p.Pro481Arg)
14g.73276798G>TCA390336655NUMBc.1736C>A (p.Pro579His)
c.1592C>A (p.Pro531His)
c.1703C>A (p.Pro568His)
c.1151C>A (p.Pro384His)
c.1118C>A (p.Pro373His)
c.1559C>A (p.Pro520His)
c.1265C>A (p.Pro422His)
c.1304C>A (p.Pro435His)
c.1298C>A (p.Pro433His)
c.1694C>A (p.Pro565His)
c.1727C>A (p.Pro576His)
c.1583C>A (p.Pro528His)
c.1442C>A (p.Pro481His)
14g.73276799G>ACA390336657NUMBc.1735C>T (p.Pro579Ser)
c.1591C>T (p.Pro531Ser)
c.1702C>T (p.Pro568Ser)
c.1150C>T (p.Pro384Ser)
c.1117C>T (p.Pro373Ser)
c.1558C>T (p.Pro520Ser)
c.1264C>T (p.Pro422Ser)
c.1303C>T (p.Pro435Ser)
c.1297C>T (p.Pro433Ser)
c.1693C>T (p.Pro565Ser)
c.1726C>T (p.Pro576Ser)
c.1582C>T (p.Pro528Ser)
c.1441C>T (p.Pro481Ser)
 dbSNP gnomAD v2 gnomAD v4
14g.73276799G>CCA390336658NUMBc.1735C>G (p.Pro579Ala)
c.1591C>G (p.Pro531Ala)
c.1702C>G (p.Pro568Ala)
c.1150C>G (p.Pro384Ala)
c.1117C>G (p.Pro373Ala)
c.1558C>G (p.Pro520Ala)
c.1264C>G (p.Pro422Ala)
c.1303C>G (p.Pro435Ala)
c.1297C>G (p.Pro433Ala)
c.1693C>G (p.Pro565Ala)
c.1726C>G (p.Pro576Ala)
c.1582C>G (p.Pro528Ala)
c.1441C>G (p.Pro481Ala)
14g.73276799G=CA2146520951NUMBc.1735C= (p.Pro579=)
c.1591C= (p.Pro531=)
c.1702C= (p.Pro568=)
c.1150C= (p.Pro384=)
c.1117C= (p.Pro373=)
c.1558C= (p.Pro520=)
c.1264C= (p.Pro422=)
c.1303C= (p.Pro435=)
c.1297C= (p.Pro433=)
c.1693C= (p.Pro565=)
c.1726C= (p.Pro576=)
c.1582C= (p.Pro528=)
c.1441C= (p.Pro481=)
14g.73276799G>TCA390336660NUMBc.1735C>A (p.Pro579Thr)
c.1591C>A (p.Pro531Thr)
c.1702C>A (p.Pro568Thr)
c.1150C>A (p.Pro384Thr)
c.1117C>A (p.Pro373Thr)
c.1558C>A (p.Pro520Thr)
c.1264C>A (p.Pro422Thr)
c.1303C>A (p.Pro435Thr)
c.1297C>A (p.Pro433Thr)
c.1693C>A (p.Pro565Thr)
c.1726C>A (p.Pro576Thr)
c.1582C>A (p.Pro528Thr)
c.1441C>A (p.Pro481Thr)
14g.73276800A>CCA487257779NUMBc.1734T>G (p.Pro578=)
c.1590T>G (p.Pro530=)
c.1701T>G (p.Pro567=)
c.1149T>G (p.Pro383=)
c.1116T>G (p.Pro372=)
c.1557T>G (p.Pro519=)
c.1263T>G (p.Pro421=)
c.1302T>G (p.Pro434=)
c.1296T>G (p.Pro432=)
c.1692T>G (p.Pro564=)
c.1725T>G (p.Pro575=)
c.1581T>G (p.Pro527=)
c.1440T>G (p.Pro480=)
 gnomAD v4
14g.73276800A>GCA487257777NUMBc.1734T>C (p.Pro578=)
c.1590T>C (p.Pro530=)
c.1701T>C (p.Pro567=)
c.1149T>C (p.Pro383=)
c.1116T>C (p.Pro372=)
c.1557T>C (p.Pro519=)
c.1263T>C (p.Pro421=)
c.1302T>C (p.Pro434=)
c.1296T>C (p.Pro432=)
c.1692T>C (p.Pro564=)
c.1725T>C (p.Pro575=)
c.1581T>C (p.Pro527=)
c.1440T>C (p.Pro480=)
14g.73276800A>TCA487257775NUMBc.1734T>A (p.Pro578=)
c.1590T>A (p.Pro530=)
c.1701T>A (p.Pro567=)
c.1149T>A (p.Pro383=)
c.1116T>A (p.Pro372=)
c.1557T>A (p.Pro519=)
c.1263T>A (p.Pro421=)
c.1302T>A (p.Pro434=)
c.1296T>A (p.Pro432=)
c.1692T>A (p.Pro564=)
c.1725T>A (p.Pro575=)
c.1581T>A (p.Pro527=)
c.1440T>A (p.Pro480=)
 gnomAD v4
14g.73276801G>ACA390336663NUMBc.1733C>T (p.Pro578Leu)
c.1589C>T (p.Pro530Leu)
c.1700C>T (p.Pro567Leu)
c.1148C>T (p.Pro383Leu)
c.1115C>T (p.Pro372Leu)
c.1556C>T (p.Pro519Leu)
c.1262C>T (p.Pro421Leu)
c.1301C>T (p.Pro434Leu)
c.1295C>T (p.Pro432Leu)
c.1691C>T (p.Pro564Leu)
c.1724C>T (p.Pro575Leu)
c.1580C>T (p.Pro527Leu)
c.1439C>T (p.Pro480Leu)
14g.73276801G>CCA390336665NUMBc.1733C>G (p.Pro578Arg)
c.1589C>G (p.Pro530Arg)
c.1700C>G (p.Pro567Arg)
c.1148C>G (p.Pro383Arg)
c.1115C>G (p.Pro372Arg)
c.1556C>G (p.Pro519Arg)
c.1262C>G (p.Pro421Arg)
c.1301C>G (p.Pro434Arg)
c.1295C>G (p.Pro432Arg)
c.1691C>G (p.Pro564Arg)
c.1724C>G (p.Pro575Arg)
c.1580C>G (p.Pro527Arg)
c.1439C>G (p.Pro480Arg)
14g.73276801G>TCA390336667NUMBc.1733C>A (p.Pro578His)
c.1589C>A (p.Pro530His)
c.1700C>A (p.Pro567His)
c.1148C>A (p.Pro383His)
c.1115C>A (p.Pro372His)
c.1556C>A (p.Pro519His)
c.1262C>A (p.Pro421His)
c.1301C>A (p.Pro434His)
c.1295C>A (p.Pro432His)
c.1691C>A (p.Pro564His)
c.1724C>A (p.Pro575His)
c.1580C>A (p.Pro527His)
c.1439C>A (p.Pro480His)
14g.73276802G>ACA390336670NUMBc.1732C>T (p.Pro578Ser)
c.1588C>T (p.Pro530Ser)
c.1699C>T (p.Pro567Ser)
c.1147C>T (p.Pro383Ser)
c.1114C>T (p.Pro372Ser)
c.1555C>T (p.Pro519Ser)
c.1261C>T (p.Pro421Ser)
c.1300C>T (p.Pro434Ser)
c.1294C>T (p.Pro432Ser)
c.1690C>T (p.Pro564Ser)
c.1723C>T (p.Pro575Ser)
c.1579C>T (p.Pro527Ser)
c.1438C>T (p.Pro480Ser)
 COSMIC
14g.73276802G>CCA390336671NUMBc.1732C>G (p.Pro578Ala)
c.1588C>G (p.Pro530Ala)
c.1699C>G (p.Pro567Ala)
c.1147C>G (p.Pro383Ala)
c.1114C>G (p.Pro372Ala)
c.1555C>G (p.Pro519Ala)
c.1261C>G (p.Pro421Ala)
c.1300C>G (p.Pro434Ala)
c.1294C>G (p.Pro432Ala)
c.1690C>G (p.Pro564Ala)
c.1723C>G (p.Pro575Ala)
c.1579C>G (p.Pro527Ala)
c.1438C>G (p.Pro480Ala)
14g.73276802G>TCA390336674NUMBc.1732C>A (p.Pro578Thr)
c.1588C>A (p.Pro530Thr)
c.1699C>A (p.Pro567Thr)
c.1147C>A (p.Pro383Thr)
c.1114C>A (p.Pro372Thr)
c.1555C>A (p.Pro519Thr)
c.1261C>A (p.Pro421Thr)
c.1300C>A (p.Pro434Thr)
c.1294C>A (p.Pro432Thr)
c.1690C>A (p.Pro564Thr)
c.1723C>A (p.Pro575Thr)
c.1579C>A (p.Pro527Thr)
c.1438C>A (p.Pro480Thr)
14g.73276803C>ACA390336678NUMBc.1731G>T (p.Lys577Asn)
c.1587G>T (p.Lys529Asn)
c.1698G>T (p.Lys566Asn)
c.1146G>T (p.Lys382Asn)
c.1113G>T (p.Lys371Asn)
c.1554G>T (p.Lys518Asn)
c.1260G>T (p.Lys420Asn)
c.1299G>T (p.Lys433Asn)
c.1293G>T (p.Lys431Asn)
c.1689G>T (p.Lys563Asn)
c.1722G>T (p.Lys574Asn)
c.1578G>T (p.Lys526Asn)
c.1437G>T (p.Lys479Asn)
14g.73276803C>GCA390336680NUMBc.1731G>C (p.Lys577Asn)
c.1587G>C (p.Lys529Asn)
c.1698G>C (p.Lys566Asn)
c.1146G>C (p.Lys382Asn)
c.1113G>C (p.Lys371Asn)
c.1554G>C (p.Lys518Asn)
c.1260G>C (p.Lys420Asn)
c.1299G>C (p.Lys433Asn)
c.1293G>C (p.Lys431Asn)
c.1689G>C (p.Lys563Asn)
c.1722G>C (p.Lys574Asn)
c.1578G>C (p.Lys526Asn)
c.1437G>C (p.Lys479Asn)
14g.73276803C>TCA487257781NUMBc.1731G>A (p.Lys577=)
c.1587G>A (p.Lys529=)
c.1698G>A (p.Lys566=)
c.1146G>A (p.Lys382=)
c.1113G>A (p.Lys371=)
c.1554G>A (p.Lys518=)
c.1260G>A (p.Lys420=)
c.1299G>A (p.Lys433=)
c.1293G>A (p.Lys431=)
c.1689G>A (p.Lys563=)
c.1722G>A (p.Lys574=)
c.1578G>A (p.Lys526=)
c.1437G>A (p.Lys479=)
 gnomAD v4
14g.73276804T>ACA390336684NUMBc.1730A>T (p.Lys577Met)
c.1586A>T (p.Lys529Met)
c.1697A>T (p.Lys566Met)
c.1145A>T (p.Lys382Met)
c.1112A>T (p.Lys371Met)
c.1553A>T (p.Lys518Met)
c.1259A>T (p.Lys420Met)
c.1298A>T (p.Lys433Met)
c.1292A>T (p.Lys431Met)
c.1688A>T (p.Lys563Met)
c.1721A>T (p.Lys574Met)
c.1577A>T (p.Lys526Met)
c.1436A>T (p.Lys479Met)
14g.73276804T>CCA390336686NUMBc.1730A>G (p.Lys577Arg)
c.1586A>G (p.Lys529Arg)
c.1697A>G (p.Lys566Arg)
c.1145A>G (p.Lys382Arg)
c.1112A>G (p.Lys371Arg)
c.1553A>G (p.Lys518Arg)
c.1259A>G (p.Lys420Arg)
c.1298A>G (p.Lys433Arg)
c.1292A>G (p.Lys431Arg)
c.1688A>G (p.Lys563Arg)
c.1721A>G (p.Lys574Arg)
c.1577A>G (p.Lys526Arg)
c.1436A>G (p.Lys479Arg)
14g.73276804T>GCA390336688NUMBc.1730A>C (p.Lys577Thr)
c.1586A>C (p.Lys529Thr)
c.1697A>C (p.Lys566Thr)
c.1145A>C (p.Lys382Thr)
c.1112A>C (p.Lys371Thr)
c.1553A>C (p.Lys518Thr)
c.1259A>C (p.Lys420Thr)
c.1298A>C (p.Lys433Thr)
c.1292A>C (p.Lys431Thr)
c.1688A>C (p.Lys563Thr)
c.1721A>C (p.Lys574Thr)
c.1577A>C (p.Lys526Thr)
c.1436A>C (p.Lys479Thr)
14g.73276805T>ACA390336690NUMBc.1729A>T (p.Lys577Ter)
c.1585A>T (p.Lys529Ter)
c.1696A>T (p.Lys566Ter)
c.1144A>T (p.Lys382Ter)
c.1111A>T (p.Lys371Ter)
c.1552A>T (p.Lys518Ter)
c.1258A>T (p.Lys420Ter)
c.1297A>T (p.Lys433Ter)
c.1291A>T (p.Lys431Ter)
c.1687A>T (p.Lys563Ter)
c.1720A>T (p.Lys574Ter)
c.1576A>T (p.Lys526Ter)
c.1435A>T (p.Lys479Ter)
14g.73276805T>CCA390336692NUMBc.1729A>G (p.Lys577Glu)
c.1585A>G (p.Lys529Glu)
c.1696A>G (p.Lys566Glu)
c.1144A>G (p.Lys382Glu)
c.1111A>G (p.Lys371Glu)
c.1552A>G (p.Lys518Glu)
c.1258A>G (p.Lys420Glu)
c.1297A>G (p.Lys433Glu)
c.1291A>G (p.Lys431Glu)
c.1687A>G (p.Lys563Glu)
c.1720A>G (p.Lys574Glu)
c.1576A>G (p.Lys526Glu)
c.1435A>G (p.Lys479Glu)
14g.73276805T>GCA390336695NUMBc.1729A>C (p.Lys577Gln)
c.1585A>C (p.Lys529Gln)
c.1696A>C (p.Lys566Gln)
c.1144A>C (p.Lys382Gln)
c.1111A>C (p.Lys371Gln)
c.1552A>C (p.Lys518Gln)
c.1258A>C (p.Lys420Gln)
c.1297A>C (p.Lys433Gln)
c.1291A>C (p.Lys431Gln)
c.1687A>C (p.Lys563Gln)
c.1720A>C (p.Lys574Gln)
c.1576A>C (p.Lys526Gln)
c.1435A>C (p.Lys479Gln)
14g.73276805_73276808delinsTAAACA2146520952NUMBc.1726_1729delinsTTTA (p.Phe576=)
c.1582_1585delinsTTTA (p.Phe528=)
c.1693_1696delinsTTTA (p.Phe565=)
c.1141_1144delinsTTTA (p.Phe381=)
c.1108_1111delinsTTTA (p.Phe370=)
c.1549_1552delinsTTTA (p.Phe517=)
c.1255_1258delinsTTTA (p.Phe419=)
c.1294_1297delinsTTTA (p.Phe432=)
c.1288_1291delinsTTTA (p.Phe430=)
c.1684_1687delinsTTTA (p.Phe562=)
c.1717_1720delinsTTTA (p.Phe573=)
c.1573_1576delinsTTTA (p.Phe525=)
c.1432_1435delinsTTTA (p.Phe478=)
14g.73276806A=CA2146520954NUMBc.1728T= (p.Phe576=)
c.1584T= (p.Phe528=)
c.1695T= (p.Phe565=)
c.1143T= (p.Phe381=)
c.1110T= (p.Phe370=)
c.1551T= (p.Phe517=)
c.1257T= (p.Phe419=)
c.1296T= (p.Phe432=)
c.1290T= (p.Phe430=)
c.1686T= (p.Phe562=)
c.1719T= (p.Phe573=)
c.1575T= (p.Phe525=)
c.1434T= (p.Phe478=)
14g.73276806A>CCA390336698NUMBc.1728T>G (p.Phe576Leu)
c.1584T>G (p.Phe528Leu)
c.1695T>G (p.Phe565Leu)
c.1143T>G (p.Phe381Leu)
c.1110T>G (p.Phe370Leu)
c.1551T>G (p.Phe517Leu)
c.1257T>G (p.Phe419Leu)
c.1296T>G (p.Phe432Leu)
c.1290T>G (p.Phe430Leu)
c.1686T>G (p.Phe562Leu)
c.1719T>G (p.Phe573Leu)
c.1575T>G (p.Phe525Leu)
c.1434T>G (p.Phe478Leu)
 gnomAD v4
14g.73276806A>GCA487257789NUMBc.1728T>C (p.Phe576=)
c.1584T>C (p.Phe528=)
c.1695T>C (p.Phe565=)
c.1143T>C (p.Phe381=)
c.1110T>C (p.Phe370=)
c.1551T>C (p.Phe517=)
c.1257T>C (p.Phe419=)
c.1296T>C (p.Phe432=)
c.1290T>C (p.Phe430=)
c.1686T>C (p.Phe562=)
c.1719T>C (p.Phe573=)
c.1575T>C (p.Phe525=)
c.1434T>C (p.Phe478=)
14g.73276806A>TCA390336699NUMBc.1728T>A (p.Phe576Leu)
c.1584T>A (p.Phe528Leu)
c.1695T>A (p.Phe565Leu)
c.1143T>A (p.Phe381Leu)
c.1110T>A (p.Phe370Leu)
c.1551T>A (p.Phe517Leu)
c.1257T>A (p.Phe419Leu)
c.1296T>A (p.Phe432Leu)
c.1290T>A (p.Phe430Leu)
c.1686T>A (p.Phe562Leu)
c.1719T>A (p.Phe573Leu)
c.1575T>A (p.Phe525Leu)
c.1434T>A (p.Phe478Leu)
14g.73276806_73276808delCA708442810NUMBc.1726_1728del (p.Phe576del)
c.1582_1584del (p.Phe528del)
c.1693_1695del (p.Phe565del)
c.1141_1143del (p.Phe381del)
c.1108_1110del (p.Phe370del)
c.1549_1551del (p.Phe517del)
c.1255_1257del (p.Phe419del)
c.1294_1296del (p.Phe432del)
c.1288_1290del (p.Phe430del)
c.1684_1686del (p.Phe562del)
c.1717_1719del (p.Phe573del)
c.1573_1575del (p.Phe525del)
c.1432_1434del (p.Phe478del)
 dbSNP gnomAD v3 gnomAD v4
14g.73276806_73276809delinsAAAGCA2146520953NUMBc.1725_1728delinsCTTT (p.Phe575=)
c.1581_1584delinsCTTT (p.Phe527=)
c.1692_1695delinsCTTT (p.Phe564=)
c.1140_1143delinsCTTT (p.Phe380=)
c.1107_1110delinsCTTT (p.Phe369=)
c.1548_1551delinsCTTT (p.Phe516=)
c.1254_1257delinsCTTT (p.Phe418=)
c.1293_1296delinsCTTT (p.Phe431=)
c.1287_1290delinsCTTT (p.Phe429=)
c.1683_1686delinsCTTT (p.Phe561=)
c.1716_1719delinsCTTT (p.Phe572=)
c.1572_1575delinsCTTT (p.Phe524=)
c.1431_1434delinsCTTT (p.Phe477=)
14g.73276807A>CCA390336703NUMBc.1727T>G (p.Phe576Cys)
c.1583T>G (p.Phe528Cys)
c.1694T>G (p.Phe565Cys)
c.1142T>G (p.Phe381Cys)
c.1109T>G (p.Phe370Cys)
c.1550T>G (p.Phe517Cys)
c.1256T>G (p.Phe419Cys)
c.1295T>G (p.Phe432Cys)
c.1289T>G (p.Phe430Cys)
c.1685T>G (p.Phe562Cys)
c.1718T>G (p.Phe573Cys)
c.1574T>G (p.Phe525Cys)
c.1433T>G (p.Phe478Cys)
14g.73276807A>GCA390336705NUMBc.1727T>C (p.Phe576Ser)
c.1583T>C (p.Phe528Ser)
c.1694T>C (p.Phe565Ser)
c.1142T>C (p.Phe381Ser)
c.1109T>C (p.Phe370Ser)
c.1550T>C (p.Phe517Ser)
c.1256T>C (p.Phe419Ser)
c.1295T>C (p.Phe432Ser)
c.1289T>C (p.Phe430Ser)
c.1685T>C (p.Phe562Ser)
c.1718T>C (p.Phe573Ser)
c.1574T>C (p.Phe525Ser)
c.1433T>C (p.Phe478Ser)
14g.73276807A>TCA390336708NUMBc.1727T>A (p.Phe576Tyr)
c.1583T>A (p.Phe528Tyr)
c.1694T>A (p.Phe565Tyr)
c.1142T>A (p.Phe381Tyr)
c.1109T>A (p.Phe370Tyr)
c.1550T>A (p.Phe517Tyr)
c.1256T>A (p.Phe419Tyr)
c.1295T>A (p.Phe432Tyr)
c.1289T>A (p.Phe430Tyr)
c.1685T>A (p.Phe562Tyr)
c.1718T>A (p.Phe573Tyr)
c.1574T>A (p.Phe525Tyr)
c.1433T>A (p.Phe478Tyr)
 gnomAD v4
14g.73276810_73276812delCA7258661NUMBc.1725_1727del (p.Phe576del)
c.1581_1583del (p.Phe528del)
c.1692_1694del (p.Phe565del)
c.1140_1142del (p.Phe381del)
c.1107_1109del (p.Phe370del)
c.1548_1550del (p.Phe517del)
c.1254_1256del (p.Phe419del)
c.1293_1295del (p.Phe432del)
c.1287_1289del (p.Phe430del)
c.1683_1685del (p.Phe562del)
c.1716_1718del (p.Phe573del)
c.1572_1574del (p.Phe525del)
c.1431_1433del (p.Phe478del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.73276807_73276822dupCA708442816NUMBc.1712_1727dup (p.Lys577HisfsTer6)
c.1568_1583dup (p.Lys529HisfsTer6)
c.1679_1694dup (p.Lys566HisfsTer6)
c.1127_1142dup (p.Lys382HisfsTer6)
c.1094_1109dup (p.Lys371HisfsTer6)
c.1535_1550dup (p.Lys518HisfsTer6)
c.1241_1256dup (p.Lys420HisfsTer6)
c.1280_1295dup (p.Lys433HisfsTer6)
c.1274_1289dup (p.Lys431HisfsTer6)
c.1670_1685dup (p.Lys563HisfsTer6)
c.1703_1718dup (p.Lys574HisfsTer6)
c.1559_1574dup (p.Lys526HisfsTer6)
c.1418_1433dup (p.Lys479HisfsTer6)
 dbSNP gnomAD v3 gnomAD v4
14g.73276808A>CCA390336711NUMBc.1726T>G (p.Phe576Val)
c.1582T>G (p.Phe528Val)
c.1693T>G (p.Phe565Val)
c.1141T>G (p.Phe381Val)
c.1108T>G (p.Phe370Val)
c.1549T>G (p.Phe517Val)
c.1255T>G (p.Phe419Val)
c.1294T>G (p.Phe432Val)
c.1288T>G (p.Phe430Val)
c.1684T>G (p.Phe562Val)
c.1717T>G (p.Phe573Val)
c.1573T>G (p.Phe525Val)
c.1432T>G (p.Phe478Val)
14g.73276808A>GCA390336717NUMBc.1726T>C (p.Phe576Leu)
c.1582T>C (p.Phe528Leu)
c.1693T>C (p.Phe565Leu)
c.1141T>C (p.Phe381Leu)
c.1108T>C (p.Phe370Leu)
c.1549T>C (p.Phe517Leu)
c.1255T>C (p.Phe419Leu)
c.1294T>C (p.Phe432Leu)
c.1288T>C (p.Phe430Leu)
c.1684T>C (p.Phe562Leu)
c.1717T>C (p.Phe573Leu)
c.1573T>C (p.Phe525Leu)
c.1432T>C (p.Phe478Leu)
14g.73276808A>TCA390336714NUMBc.1726T>A (p.Phe576Ile)
c.1582T>A (p.Phe528Ile)
c.1693T>A (p.Phe565Ile)
c.1141T>A (p.Phe381Ile)
c.1108T>A (p.Phe370Ile)
c.1549T>A (p.Phe517Ile)
c.1255T>A (p.Phe419Ile)
c.1294T>A (p.Phe432Ile)
c.1288T>A (p.Phe430Ile)
c.1684T>A (p.Phe562Ile)
c.1717T>A (p.Phe573Ile)
c.1573T>A (p.Phe525Ile)
c.1432T>A (p.Phe478Ile)
14g.73276809G>ACA487257794NUMBc.1725C>T (p.Phe575=)
c.1581C>T (p.Phe527=)
c.1692C>T (p.Phe564=)
c.1140C>T (p.Phe380=)
c.1107C>T (p.Phe369=)
c.1548C>T (p.Phe516=)
c.1254C>T (p.Phe418=)
c.1293C>T (p.Phe431=)
c.1287C>T (p.Phe429=)
c.1683C>T (p.Phe561=)
c.1716C>T (p.Phe572=)
c.1572C>T (p.Phe524=)
c.1431C>T (p.Phe477=)
 gnomAD v4
14g.73276809G>CCA7258662NUMBc.1725C>G (p.Phe575Leu)
c.1581C>G (p.Phe527Leu)
c.1692C>G (p.Phe564Leu)
c.1140C>G (p.Phe380Leu)
c.1107C>G (p.Phe369Leu)
c.1548C>G (p.Phe516Leu)
c.1254C>G (p.Phe418Leu)
c.1293C>G (p.Phe431Leu)
c.1287C>G (p.Phe429Leu)
c.1683C>G (p.Phe561Leu)
c.1716C>G (p.Phe572Leu)
c.1572C>G (p.Phe524Leu)
c.1431C>G (p.Phe477Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.73276809G=CA2146520955NUMBc.1725C= (p.Phe575=)
c.1581C= (p.Phe527=)
c.1692C= (p.Phe564=)
c.1140C= (p.Phe380=)
c.1107C= (p.Phe369=)
c.1548C= (p.Phe516=)
c.1254C= (p.Phe418=)
c.1293C= (p.Phe431=)
c.1287C= (p.Phe429=)
c.1683C= (p.Phe561=)
c.1716C= (p.Phe572=)
c.1572C= (p.Phe524=)
c.1431C= (p.Phe477=)
14g.73276809G>TCA390336720NUMBc.1725C>A (p.Phe575Leu)
c.1581C>A (p.Phe527Leu)
c.1692C>A (p.Phe564Leu)
c.1140C>A (p.Phe380Leu)
c.1107C>A (p.Phe369Leu)
c.1548C>A (p.Phe516Leu)
c.1254C>A (p.Phe418Leu)
c.1293C>A (p.Phe431Leu)
c.1287C>A (p.Phe429Leu)
c.1683C>A (p.Phe561Leu)
c.1716C>A (p.Phe572Leu)
c.1572C>A (p.Phe524Leu)
c.1431C>A (p.Phe477Leu)
14g.73276810A>CCA390336725NUMBc.1724T>G (p.Phe575Cys)
c.1580T>G (p.Phe527Cys)
c.1691T>G (p.Phe564Cys)
c.1139T>G (p.Phe380Cys)
c.1106T>G (p.Phe369Cys)
c.1547T>G (p.Phe516Cys)
c.1253T>G (p.Phe418Cys)
c.1292T>G (p.Phe431Cys)
c.1286T>G (p.Phe429Cys)
c.1682T>G (p.Phe561Cys)
c.1715T>G (p.Phe572Cys)
c.1571T>G (p.Phe524Cys)
c.1430T>G (p.Phe477Cys)
14g.73276810A>GCA390336728NUMBc.1724T>C (p.Phe575Ser)
c.1580T>C (p.Phe527Ser)
c.1691T>C (p.Phe564Ser)
c.1139T>C (p.Phe380Ser)
c.1106T>C (p.Phe369Ser)
c.1547T>C (p.Phe516Ser)
c.1253T>C (p.Phe418Ser)
c.1292T>C (p.Phe431Ser)
c.1286T>C (p.Phe429Ser)
c.1682T>C (p.Phe561Ser)
c.1715T>C (p.Phe572Ser)
c.1571T>C (p.Phe524Ser)
c.1430T>C (p.Phe477Ser)
14g.73276810A>TCA390336731NUMBc.1724T>A (p.Phe575Tyr)
c.1580T>A (p.Phe527Tyr)
c.1691T>A (p.Phe564Tyr)
c.1139T>A (p.Phe380Tyr)
c.1106T>A (p.Phe369Tyr)
c.1547T>A (p.Phe516Tyr)
c.1253T>A (p.Phe418Tyr)
c.1292T>A (p.Phe431Tyr)
c.1286T>A (p.Phe429Tyr)
c.1682T>A (p.Phe561Tyr)
c.1715T>A (p.Phe572Tyr)
c.1571T>A (p.Phe524Tyr)
c.1430T>A (p.Phe477Tyr)
14g.73276811A>CCA390336735NUMBc.1723T>G (p.Phe575Val)
c.1579T>G (p.Phe527Val)
c.1690T>G (p.Phe564Val)
c.1138T>G (p.Phe380Val)
c.1105T>G (p.Phe369Val)
c.1546T>G (p.Phe516Val)
c.1252T>G (p.Phe418Val)
c.1291T>G (p.Phe431Val)
c.1285T>G (p.Phe429Val)
c.1681T>G (p.Phe561Val)
c.1714T>G (p.Phe572Val)
c.1570T>G (p.Phe524Val)
c.1429T>G (p.Phe477Val)
14g.73276811A>GCA390336738NUMBc.1723T>C (p.Phe575Leu)
c.1579T>C (p.Phe527Leu)
c.1690T>C (p.Phe564Leu)
c.1138T>C (p.Phe380Leu)
c.1105T>C (p.Phe369Leu)
c.1546T>C (p.Phe516Leu)
c.1252T>C (p.Phe418Leu)
c.1291T>C (p.Phe431Leu)
c.1285T>C (p.Phe429Leu)
c.1681T>C (p.Phe561Leu)
c.1714T>C (p.Phe572Leu)
c.1570T>C (p.Phe524Leu)
c.1429T>C (p.Phe477Leu)
14g.73276811A>TCA390336739NUMBc.1723T>A (p.Phe575Ile)
c.1579T>A (p.Phe527Ile)
c.1690T>A (p.Phe564Ile)
c.1138T>A (p.Phe380Ile)
c.1105T>A (p.Phe369Ile)
c.1546T>A (p.Phe516Ile)
c.1252T>A (p.Phe418Ile)
c.1291T>A (p.Phe431Ile)
c.1285T>A (p.Phe429Ile)
c.1681T>A (p.Phe561Ile)
c.1714T>A (p.Phe572Ile)
c.1570T>A (p.Phe524Ile)
c.1429T>A (p.Phe477Ile)
14g.73276812G>ACA487257798NUMBc.1722C>T (p.Pro574=)
c.1578C>T (p.Pro526=)
c.1689C>T (p.Pro563=)
c.1137C>T (p.Pro379=)
c.1104C>T (p.Pro368=)
c.1545C>T (p.Pro515=)
c.1251C>T (p.Pro417=)
c.1290C>T (p.Pro430=)
c.1284C>T (p.Pro428=)
c.1680C>T (p.Pro560=)
c.1713C>T (p.Pro571=)
c.1569C>T (p.Pro523=)
c.1428C>T (p.Pro476=)
14g.73276812G>CCA7258663NUMBc.1722C>G (p.Pro574=)
c.1578C>G (p.Pro526=)
c.1689C>G (p.Pro563=)
c.1137C>G (p.Pro379=)
c.1104C>G (p.Pro368=)
c.1545C>G (p.Pro515=)
c.1251C>G (p.Pro417=)
c.1290C>G (p.Pro430=)
c.1284C>G (p.Pro428=)
c.1680C>G (p.Pro560=)
c.1713C>G (p.Pro571=)
c.1569C>G (p.Pro523=)
c.1428C>G (p.Pro476=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.73276812G=CA2146520956NUMBc.1722C= (p.Pro574=)
c.1578C= (p.Pro526=)
c.1689C= (p.Pro563=)
c.1137C= (p.Pro379=)
c.1104C= (p.Pro368=)
c.1545C= (p.Pro515=)
c.1251C= (p.Pro417=)
c.1290C= (p.Pro430=)
c.1284C= (p.Pro428=)
c.1680C= (p.Pro560=)
c.1713C= (p.Pro571=)
c.1569C= (p.Pro523=)
c.1428C= (p.Pro476=)
14g.73276812G>TCA487257801NUMBc.1722C>A (p.Pro574=)
c.1578C>A (p.Pro526=)
c.1689C>A (p.Pro563=)
c.1137C>A (p.Pro379=)
c.1104C>A (p.Pro368=)
c.1545C>A (p.Pro515=)
c.1251C>A (p.Pro417=)
c.1290C>A (p.Pro430=)
c.1284C>A (p.Pro428=)
c.1680C>A (p.Pro560=)
c.1713C>A (p.Pro571=)
c.1569C>A (p.Pro523=)
c.1428C>A (p.Pro476=)
14g.73276813G>ACA390336742NUMBc.1721C>T (p.Pro574Leu)
c.1577C>T (p.Pro526Leu)
c.1688C>T (p.Pro563Leu)
c.1136C>T (p.Pro379Leu)
c.1103C>T (p.Pro368Leu)
c.1544C>T (p.Pro515Leu)
c.1250C>T (p.Pro417Leu)
c.1289C>T (p.Pro430Leu)
c.1283C>T (p.Pro428Leu)
c.1679C>T (p.Pro560Leu)
c.1712C>T (p.Pro571Leu)
c.1568C>T (p.Pro523Leu)
c.1427C>T (p.Pro476Leu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
14g.73276813G>CCA390336745NUMBc.1721C>G (p.Pro574Arg)
c.1577C>G (p.Pro526Arg)
c.1688C>G (p.Pro563Arg)
c.1136C>G (p.Pro379Arg)
c.1103C>G (p.Pro368Arg)
c.1544C>G (p.Pro515Arg)
c.1250C>G (p.Pro417Arg)
c.1289C>G (p.Pro430Arg)
c.1283C>G (p.Pro428Arg)
c.1679C>G (p.Pro560Arg)
c.1712C>G (p.Pro571Arg)
c.1568C>G (p.Pro523Arg)
c.1427C>G (p.Pro476Arg)
14g.73276813G=CA2146520957NUMBc.1721C= (p.Pro574=)
c.1577C= (p.Pro526=)
c.1688C= (p.Pro563=)
c.1136C= (p.Pro379=)
c.1103C= (p.Pro368=)
c.1544C= (p.Pro515=)
c.1250C= (p.Pro417=)
c.1289C= (p.Pro430=)
c.1283C= (p.Pro428=)
c.1679C= (p.Pro560=)
c.1712C= (p.Pro571=)
c.1568C= (p.Pro523=)
c.1427C= (p.Pro476=)
14g.73276813G>TCA390336748NUMBc.1721C>A (p.Pro574His)
c.1577C>A (p.Pro526His)
c.1688C>A (p.Pro563His)
c.1136C>A (p.Pro379His)
c.1103C>A (p.Pro368His)
c.1544C>A (p.Pro515His)
c.1250C>A (p.Pro417His)
c.1289C>A (p.Pro430His)
c.1283C>A (p.Pro428His)
c.1679C>A (p.Pro560His)
c.1712C>A (p.Pro571His)
c.1568C>A (p.Pro523His)
c.1427C>A (p.Pro476His)
14g.73276814G>ACA390336757NUMBc.1720C>T (p.Pro574Ser)
c.1576C>T (p.Pro526Ser)
c.1687C>T (p.Pro563Ser)
c.1135C>T (p.Pro379Ser)
c.1102C>T (p.Pro368Ser)
c.1543C>T (p.Pro515Ser)
c.1249C>T (p.Pro417Ser)
c.1288C>T (p.Pro430Ser)
c.1282C>T (p.Pro428Ser)
c.1678C>T (p.Pro560Ser)
c.1711C>T (p.Pro571Ser)
c.1567C>T (p.Pro523Ser)
c.1426C>T (p.Pro476Ser)
14g.73276814G>CCA390336751NUMBc.1720C>G (p.Pro574Ala)
c.1576C>G (p.Pro526Ala)
c.1687C>G (p.Pro563Ala)
c.1135C>G (p.Pro379Ala)
c.1102C>G (p.Pro368Ala)
c.1543C>G (p.Pro515Ala)
c.1249C>G (p.Pro417Ala)
c.1288C>G (p.Pro430Ala)
c.1282C>G (p.Pro428Ala)
c.1678C>G (p.Pro560Ala)
c.1711C>G (p.Pro571Ala)
c.1567C>G (p.Pro523Ala)
c.1426C>G (p.Pro476Ala)
14g.73276814G>TCA390336754NUMBc.1720C>A (p.Pro574Thr)
c.1576C>A (p.Pro526Thr)
c.1687C>A (p.Pro563Thr)
c.1135C>A (p.Pro379Thr)
c.1102C>A (p.Pro368Thr)
c.1543C>A (p.Pro515Thr)
c.1249C>A (p.Pro417Thr)
c.1288C>A (p.Pro430Thr)
c.1282C>A (p.Pro428Thr)
c.1678C>A (p.Pro560Thr)
c.1711C>A (p.Pro571Thr)
c.1567C>A (p.Pro523Thr)
c.1426C>A (p.Pro476Thr)
14g.73276815A>CCA390336759NUMBc.1719T>G (p.Ser573Arg)
c.1575T>G (p.Ser525Arg)
c.1686T>G (p.Ser562Arg)
c.1134T>G (p.Ser378Arg)
c.1101T>G (p.Ser367Arg)
c.1542T>G (p.Ser514Arg)
c.1248T>G (p.Ser416Arg)
c.1287T>G (p.Ser429Arg)
c.1281T>G (p.Ser427Arg)
c.1677T>G (p.Ser559Arg)
c.1710T>G (p.Ser570Arg)
c.1566T>G (p.Ser522Arg)
c.1425T>G (p.Ser475Arg)
14g.73276815A>GCA487257803NUMBc.1719T>C (p.Ser573=)
c.1575T>C (p.Ser525=)
c.1686T>C (p.Ser562=)
c.1134T>C (p.Ser378=)
c.1101T>C (p.Ser367=)
c.1542T>C (p.Ser514=)
c.1248T>C (p.Ser416=)
c.1287T>C (p.Ser429=)
c.1281T>C (p.Ser427=)
c.1677T>C (p.Ser559=)
c.1710T>C (p.Ser570=)
c.1566T>C (p.Ser522=)
c.1425T>C (p.Ser475=)
14g.73276815A>TCA390336762NUMBc.1719T>A (p.Ser573Arg)
c.1575T>A (p.Ser525Arg)
c.1686T>A (p.Ser562Arg)
c.1134T>A (p.Ser378Arg)
c.1101T>A (p.Ser367Arg)
c.1542T>A (p.Ser514Arg)
c.1248T>A (p.Ser416Arg)
c.1287T>A (p.Ser429Arg)
c.1281T>A (p.Ser427Arg)
c.1677T>A (p.Ser559Arg)
c.1710T>A (p.Ser570Arg)
c.1566T>A (p.Ser522Arg)
c.1425T>A (p.Ser475Arg)
14g.73276815_73276816insTTTATTAAATGCA2730160333NUMBc.1718_1719insCATTTAATAAA (p.Pro574IlefsTer2)
c.1574_1575insCATTTAATAAA (p.Pro526IlefsTer2)
c.1685_1686insCATTTAATAAA (p.Pro563IlefsTer2)
c.1133_1134insCATTTAATAAA (p.Pro379IlefsTer2)
c.1100_1101insCATTTAATAAA (p.Pro368IlefsTer2)
c.1541_1542insCATTTAATAAA (p.Pro515IlefsTer2)
c.1247_1248insCATTTAATAAA (p.Pro417IlefsTer2)
c.1286_1287insCATTTAATAAA (p.Pro430IlefsTer2)
c.1280_1281insCATTTAATAAA (p.Pro428IlefsTer2)
c.1676_1677insCATTTAATAAA (p.Pro560IlefsTer2)
c.1709_1710insCATTTAATAAA (p.Pro571IlefsTer2)
c.1565_1566insCATTTAATAAA (p.Pro523IlefsTer2)
c.1424_1425insCATTTAATAAA (p.Pro476IlefsTer2)
 dbSNP
14g.73276816C>ACA7258664NUMBc.1718G>T (p.Ser573Ile)
c.1574G>T (p.Ser525Ile)
c.1685G>T (p.Ser562Ile)
c.1133G>T (p.Ser378Ile)
c.1100G>T (p.Ser367Ile)
c.1541G>T (p.Ser514Ile)
c.1247G>T (p.Ser416Ile)
c.1286G>T (p.Ser429Ile)
c.1280G>T (p.Ser427Ile)
c.1676G>T (p.Ser559Ile)
c.1709G>T (p.Ser570Ile)
c.1565G>T (p.Ser522Ile)
c.1424G>T (p.Ser475Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.73276816C=CA2146520958NUMBc.1718G= (p.Ser573=)
c.1574G= (p.Ser525=)
c.1685G= (p.Ser562=)
c.1133G= (p.Ser378=)
c.1100G= (p.Ser367=)
c.1541G= (p.Ser514=)
c.1247G= (p.Ser416=)
c.1286G= (p.Ser429=)
c.1280G= (p.Ser427=)
c.1676G= (p.Ser559=)
c.1709G= (p.Ser570=)
c.1565G= (p.Ser522=)
c.1424G= (p.Ser475=)
14g.73276816C>GCA390336767NUMBc.1718G>C (p.Ser573Thr)
c.1574G>C (p.Ser525Thr)
c.1685G>C (p.Ser562Thr)
c.1133G>C (p.Ser378Thr)
c.1100G>C (p.Ser367Thr)
c.1541G>C (p.Ser514Thr)
c.1247G>C (p.Ser416Thr)
c.1286G>C (p.Ser429Thr)
c.1280G>C (p.Ser427Thr)
c.1676G>C (p.Ser559Thr)
c.1709G>C (p.Ser570Thr)
c.1565G>C (p.Ser522Thr)
c.1424G>C (p.Ser475Thr)
 dbSNP gnomAD v4
14g.73276816C>TCA390336770NUMBc.1718G>A (p.Ser573Asn)
c.1574G>A (p.Ser525Asn)
c.1685G>A (p.Ser562Asn)
c.1133G>A (p.Ser378Asn)
c.1100G>A (p.Ser367Asn)
c.1541G>A (p.Ser514Asn)
c.1247G>A (p.Ser416Asn)
c.1286G>A (p.Ser429Asn)
c.1280G>A (p.Ser427Asn)
c.1676G>A (p.Ser559Asn)
c.1709G>A (p.Ser570Asn)
c.1565G>A (p.Ser522Asn)
c.1424G>A (p.Ser475Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.73276817T>ACA390336773NUMBc.1717A>T (p.Ser573Cys)
c.1573A>T (p.Ser525Cys)
c.1684A>T (p.Ser562Cys)
c.1132A>T (p.Ser378Cys)
c.1099A>T (p.Ser367Cys)
c.1540A>T (p.Ser514Cys)
c.1246A>T (p.Ser416Cys)
c.1285A>T (p.Ser429Cys)
c.1279A>T (p.Ser427Cys)
c.1675A>T (p.Ser559Cys)
c.1708A>T (p.Ser570Cys)
c.1564A>T (p.Ser522Cys)
c.1423A>T (p.Ser475Cys)
 dbSNP gnomAD v4
14g.73276817T>CCA390336774NUMBc.1717A>G (p.Ser573Gly)
c.1573A>G (p.Ser525Gly)
c.1684A>G (p.Ser562Gly)
c.1132A>G (p.Ser378Gly)
c.1099A>G (p.Ser367Gly)
c.1540A>G (p.Ser514Gly)
c.1246A>G (p.Ser416Gly)
c.1285A>G (p.Ser429Gly)
c.1279A>G (p.Ser427Gly)
c.1675A>G (p.Ser559Gly)
c.1708A>G (p.Ser570Gly)
c.1564A>G (p.Ser522Gly)
c.1423A>G (p.Ser475Gly)
14g.73276817T>GCA390336776NUMBc.1717A>C (p.Ser573Arg)
c.1573A>C (p.Ser525Arg)
c.1684A>C (p.Ser562Arg)
c.1132A>C (p.Ser378Arg)
c.1099A>C (p.Ser367Arg)
c.1540A>C (p.Ser514Arg)
c.1246A>C (p.Ser416Arg)
c.1285A>C (p.Ser429Arg)
c.1279A>C (p.Ser427Arg)
c.1675A>C (p.Ser559Arg)
c.1708A>C (p.Ser570Arg)
c.1564A>C (p.Ser522Arg)
c.1423A>C (p.Ser475Arg)
14g.73276817T=CA2146520959NUMBc.1717A= (p.Ser573=)
c.1573A= (p.Ser525=)
c.1684A= (p.Ser562=)
c.1132A= (p.Ser378=)
c.1099A= (p.Ser367=)
c.1540A= (p.Ser514=)
c.1246A= (p.Ser416=)
c.1285A= (p.Ser429=)
c.1279A= (p.Ser427=)
c.1675A= (p.Ser559=)
c.1708A= (p.Ser570=)
c.1564A= (p.Ser522=)
c.1423A= (p.Ser475=)
14g.73276821_73276823delCA2625566558NUMBc.1715_1717del (p.Thr572del)
c.1571_1573del (p.Thr524del)
c.1682_1684del (p.Thr561del)
c.1130_1132del (p.Thr377del)
c.1097_1099del (p.Thr366del)
c.1538_1540del (p.Thr513del)
c.1244_1246del (p.Thr415del)
c.1283_1285del (p.Thr428del)
c.1277_1279del (p.Thr426del)
c.1673_1675del (p.Thr558del)
c.1706_1708del (p.Thr569del)
c.1562_1564del (p.Thr521del)
c.1421_1423del (p.Thr474del)
 gnomAD v4
14g.73276817_73276818insTGCTGTGTGTGCTGCACTCCGGCAGGGTCAGTGGAGAACA2730160348NUMBc.1716_1717insTTCTCCACTGACCCTGCCGGAGTGCAGCACACACAGCA (p.Ser573PhefsTer33)
c.1572_1573insTTCTCCACTGACCCTGCCGGAGTGCAGCACACACAGCA (p.Ser525PhefsTer33)
c.1683_1684insTTCTCCACTGACCCTGCCGGAGTGCAGCACACACAGCA (p.Ser562PhefsTer33)
c.1131_1132insTTCTCCACTGACCCTGCCGGAGTGCAGCACACACAGCA (p.Ser378PhefsTer33)
c.1098_1099insTTCTCCACTGACCCTGCCGGAGTGCAGCACACACAGCA (p.Ser367PhefsTer33)
c.1539_1540insTTCTCCACTGACCCTGCCGGAGTGCAGCACACACAGCA (p.Ser514PhefsTer33)
c.1245_1246insTTCTCCACTGACCCTGCCGGAGTGCAGCACACACAGCA (p.Ser416PhefsTer33)
c.1284_1285insTTCTCCACTGACCCTGCCGGAGTGCAGCACACACAGCA (p.Ser429PhefsTer33)
c.1278_1279insTTCTCCACTGACCCTGCCGGAGTGCAGCACACACAGCA (p.Ser427PhefsTer33)
c.1674_1675insTTCTCCACTGACCCTGCCGGAGTGCAGCACACACAGCA (p.Ser559PhefsTer33)
c.1707_1708insTTCTCCACTGACCCTGCCGGAGTGCAGCACACACAGCA (p.Ser570PhefsTer33)
c.1563_1564insTTCTCCACTGACCCTGCCGGAGTGCAGCACACACAGCA (p.Ser522PhefsTer33)
c.1422_1423insTTCTCCACTGACCCTGCCGGAGTGCAGCACACACAGCA (p.Ser475PhefsTer33)
 dbSNP
14g.73276818G>ACA487257808NUMBc.1716C>T (p.Thr572=)
c.1572C>T (p.Thr524=)
c.1683C>T (p.Thr561=)
c.1131C>T (p.Thr377=)
c.1098C>T (p.Thr366=)
c.1539C>T (p.Thr513=)
c.1245C>T (p.Thr415=)
c.1284C>T (p.Thr428=)
c.1278C>T (p.Thr426=)
c.1674C>T (p.Thr558=)
c.1707C>T (p.Thr569=)
c.1563C>T (p.Thr521=)
c.1422C>T (p.Thr474=)
14g.73276818G>CCA487257809NUMBc.1716C>G (p.Thr572=)
c.1572C>G (p.Thr524=)
c.1683C>G (p.Thr561=)
c.1131C>G (p.Thr377=)
c.1098C>G (p.Thr366=)
c.1539C>G (p.Thr513=)
c.1245C>G (p.Thr415=)
c.1284C>G (p.Thr428=)
c.1278C>G (p.Thr426=)
c.1674C>G (p.Thr558=)
c.1707C>G (p.Thr569=)
c.1563C>G (p.Thr521=)
c.1422C>G (p.Thr474=)
14g.73276818G>TCA487257810NUMBc.1716C>A (p.Thr572=)
c.1572C>A (p.Thr524=)
c.1683C>A (p.Thr561=)
c.1131C>A (p.Thr377=)
c.1098C>A (p.Thr366=)
c.1539C>A (p.Thr513=)
c.1245C>A (p.Thr415=)
c.1284C>A (p.Thr428=)
c.1278C>A (p.Thr426=)
c.1674C>A (p.Thr558=)
c.1707C>A (p.Thr569=)
c.1563C>A (p.Thr521=)
c.1422C>A (p.Thr474=)
14g.73276819G>ACA390336779NUMBc.1715C>T (p.Thr572Ile)
c.1571C>T (p.Thr524Ile)
c.1682C>T (p.Thr561Ile)
c.1130C>T (p.Thr377Ile)
c.1097C>T (p.Thr366Ile)
c.1538C>T (p.Thr513Ile)
c.1244C>T (p.Thr415Ile)
c.1283C>T (p.Thr428Ile)
c.1277C>T (p.Thr426Ile)
c.1673C>T (p.Thr558Ile)
c.1706C>T (p.Thr569Ile)
c.1562C>T (p.Thr521Ile)
c.1421C>T (p.Thr474Ile)
14g.73276819G>CCA390336781NUMBc.1715C>G (p.Thr572Ser)
c.1571C>G (p.Thr524Ser)
c.1682C>G (p.Thr561Ser)
c.1130C>G (p.Thr377Ser)
c.1097C>G (p.Thr366Ser)
c.1538C>G (p.Thr513Ser)
c.1244C>G (p.Thr415Ser)
c.1283C>G (p.Thr428Ser)
c.1277C>G (p.Thr426Ser)
c.1673C>G (p.Thr558Ser)
c.1706C>G (p.Thr569Ser)
c.1562C>G (p.Thr521Ser)
c.1421C>G (p.Thr474Ser)
14g.73276819G>TCA390336783NUMBc.1715C>A (p.Thr572Asn)
c.1571C>A (p.Thr524Asn)
c.1682C>A (p.Thr561Asn)
c.1130C>A (p.Thr377Asn)
c.1097C>A (p.Thr366Asn)
c.1538C>A (p.Thr513Asn)
c.1244C>A (p.Thr415Asn)
c.1283C>A (p.Thr428Asn)
c.1277C>A (p.Thr426Asn)
c.1673C>A (p.Thr558Asn)
c.1706C>A (p.Thr569Asn)
c.1562C>A (p.Thr521Asn)
c.1421C>A (p.Thr474Asn)
14g.73276820T>ACA390336790NUMBc.1714A>T (p.Thr572Ser)
c.1570A>T (p.Thr524Ser)
c.1681A>T (p.Thr561Ser)
c.1129A>T (p.Thr377Ser)
c.1096A>T (p.Thr366Ser)
c.1537A>T (p.Thr513Ser)
c.1243A>T (p.Thr415Ser)
c.1282A>T (p.Thr428Ser)
c.1276A>T (p.Thr426Ser)
c.1672A>T (p.Thr558Ser)
c.1705A>T (p.Thr569Ser)
c.1561A>T (p.Thr521Ser)
c.1420A>T (p.Thr474Ser)
14g.73276820T>CCA390336789NUMBc.1714A>G (p.Thr572Ala)
c.1570A>G (p.Thr524Ala)
c.1681A>G (p.Thr561Ala)
c.1129A>G (p.Thr377Ala)
c.1096A>G (p.Thr366Ala)
c.1537A>G (p.Thr513Ala)
c.1243A>G (p.Thr415Ala)
c.1282A>G (p.Thr428Ala)
c.1276A>G (p.Thr426Ala)
c.1672A>G (p.Thr558Ala)
c.1705A>G (p.Thr569Ala)
c.1561A>G (p.Thr521Ala)
c.1420A>G (p.Thr474Ala)
 dbSNP gnomAD v2 gnomAD v4
14g.73276820T>GCA390336786NUMBc.1714A>C (p.Thr572Pro)
c.1570A>C (p.Thr524Pro)
c.1681A>C (p.Thr561Pro)
c.1129A>C (p.Thr377Pro)
c.1096A>C (p.Thr366Pro)
c.1537A>C (p.Thr513Pro)
c.1243A>C (p.Thr415Pro)
c.1282A>C (p.Thr428Pro)
c.1276A>C (p.Thr426Pro)
c.1672A>C (p.Thr558Pro)
c.1705A>C (p.Thr569Pro)
c.1561A>C (p.Thr521Pro)
c.1420A>C (p.Thr474Pro)
 dbSNP gnomAD v3 gnomAD v4
14g.73276820T=CA2146520960NUMBc.1714A= (p.Thr572=)
c.1570A= (p.Thr524=)
c.1681A= (p.Thr561=)
c.1129A= (p.Thr377=)
c.1096A= (p.Thr366=)
c.1537A= (p.Thr513=)
c.1243A= (p.Thr415=)
c.1282A= (p.Thr428=)
c.1276A= (p.Thr426=)
c.1672A= (p.Thr558=)
c.1705A= (p.Thr569=)
c.1561A= (p.Thr521=)
c.1420A= (p.Thr474=)
14g.73276821G>ACA487257815NUMBc.1713C>T (p.Thr571=)
c.1569C>T (p.Thr523=)
c.1680C>T (p.Thr560=)
c.1128C>T (p.Thr376=)
c.1095C>T (p.Thr365=)
c.1536C>T (p.Thr512=)
c.1242C>T (p.Thr414=)
c.1281C>T (p.Thr427=)
c.1275C>T (p.Thr425=)
c.1671C>T (p.Thr557=)
c.1704C>T (p.Thr568=)
c.1560C>T (p.Thr520=)
c.1419C>T (p.Thr473=)
14g.73276821G>CCA487257813NUMBc.1713C>G (p.Thr571=)
c.1569C>G (p.Thr523=)
c.1680C>G (p.Thr560=)
c.1128C>G (p.Thr376=)
c.1095C>G (p.Thr365=)
c.1536C>G (p.Thr512=)
c.1242C>G (p.Thr414=)
c.1281C>G (p.Thr427=)
c.1275C>G (p.Thr425=)
c.1671C>G (p.Thr557=)
c.1704C>G (p.Thr568=)
c.1560C>G (p.Thr520=)
c.1419C>G (p.Thr473=)
14g.73276821G=CA2146520961NUMBc.1713C= (p.Thr571=)
c.1569C= (p.Thr523=)
c.1680C= (p.Thr560=)
c.1128C= (p.Thr376=)
c.1095C= (p.Thr365=)
c.1536C= (p.Thr512=)
c.1242C= (p.Thr414=)
c.1281C= (p.Thr427=)
c.1275C= (p.Thr425=)
c.1671C= (p.Thr557=)
c.1704C= (p.Thr568=)
c.1560C= (p.Thr520=)
c.1419C= (p.Thr473=)
14g.73276821G>TCA487257812NUMBc.1713C>A (p.Thr571=)
c.1569C>A (p.Thr523=)
c.1680C>A (p.Thr560=)
c.1128C>A (p.Thr376=)
c.1095C>A (p.Thr365=)
c.1536C>A (p.Thr512=)
c.1242C>A (p.Thr414=)
c.1281C>A (p.Thr427=)
c.1275C>A (p.Thr425=)
c.1671C>A (p.Thr557=)
c.1704C>A (p.Thr568=)
c.1560C>A (p.Thr520=)
c.1419C>A (p.Thr473=)
14g.73276821_73276822insTCA2146520962NUMBc.1712_1713insA (p.Thr572HisfsTer6)
c.1568_1569insA (p.Thr524HisfsTer6)
c.1679_1680insA (p.Thr561HisfsTer6)
c.1127_1128insA (p.Thr377HisfsTer6)
c.1094_1095insA (p.Thr366HisfsTer6)
c.1535_1536insA (p.Thr513HisfsTer6)
c.1241_1242insA (p.Thr415HisfsTer6)
c.1280_1281insA (p.Thr428HisfsTer6)
c.1274_1275insA (p.Thr426HisfsTer6)
c.1670_1671insA (p.Thr558HisfsTer6)
c.1703_1704insA (p.Thr569HisfsTer6)
c.1559_1560insA (p.Thr521HisfsTer6)
c.1418_1419insA (p.Thr474HisfsTer6)
 dbSNP
14g.73276822G>ACA390336801NUMBc.1712C>T (p.Thr571Ile)
c.1568C>T (p.Thr523Ile)
c.1679C>T (p.Thr560Ile)
c.1127C>T (p.Thr376Ile)
c.1094C>T (p.Thr365Ile)
c.1535C>T (p.Thr512Ile)
c.1241C>T (p.Thr414Ile)
c.1280C>T (p.Thr427Ile)
c.1274C>T (p.Thr425Ile)
c.1670C>T (p.Thr557Ile)
c.1703C>T (p.Thr568Ile)
c.1559C>T (p.Thr520Ile)
c.1418C>T (p.Thr473Ile)
14g.73276822G>CCA390336795NUMBc.1712C>G (p.Thr571Ser)
c.1568C>G (p.Thr523Ser)
c.1679C>G (p.Thr560Ser)
c.1127C>G (p.Thr376Ser)
c.1094C>G (p.Thr365Ser)
c.1535C>G (p.Thr512Ser)
c.1241C>G (p.Thr414Ser)
c.1280C>G (p.Thr427Ser)
c.1274C>G (p.Thr425Ser)
c.1670C>G (p.Thr557Ser)
c.1703C>G (p.Thr568Ser)
c.1559C>G (p.Thr520Ser)
c.1418C>G (p.Thr473Ser)
14g.73276822G>TCA390336798NUMBc.1712C>A (p.Thr571Asn)
c.1568C>A (p.Thr523Asn)
c.1679C>A (p.Thr560Asn)
c.1127C>A (p.Thr376Asn)
c.1094C>A (p.Thr365Asn)
c.1535C>A (p.Thr512Asn)
c.1241C>A (p.Thr414Asn)
c.1280C>A (p.Thr427Asn)
c.1274C>A (p.Thr425Asn)
c.1670C>A (p.Thr557Asn)
c.1703C>A (p.Thr568Asn)
c.1559C>A (p.Thr520Asn)
c.1418C>A (p.Thr473Asn)
14g.73276823T>ACA390336805NUMBc.1711A>T (p.Thr571Ser)
c.1567A>T (p.Thr523Ser)
c.1678A>T (p.Thr560Ser)
c.1126A>T (p.Thr376Ser)
c.1093A>T (p.Thr365Ser)
c.1534A>T (p.Thr512Ser)
c.1240A>T (p.Thr414Ser)
c.1279A>T (p.Thr427Ser)
c.1273A>T (p.Thr425Ser)
c.1669A>T (p.Thr557Ser)
c.1702A>T (p.Thr568Ser)
c.1558A>T (p.Thr520Ser)
c.1417A>T (p.Thr473Ser)
14g.73276823T>CCA390336807NUMBc.1711A>G (p.Thr571Ala)
c.1567A>G (p.Thr523Ala)
c.1678A>G (p.Thr560Ala)
c.1126A>G (p.Thr376Ala)
c.1093A>G (p.Thr365Ala)
c.1534A>G (p.Thr512Ala)
c.1240A>G (p.Thr414Ala)
c.1279A>G (p.Thr427Ala)
c.1273A>G (p.Thr425Ala)
c.1669A>G (p.Thr557Ala)
c.1702A>G (p.Thr568Ala)
c.1558A>G (p.Thr520Ala)
c.1417A>G (p.Thr473Ala)
14g.73276823T>GCA390336810NUMBc.1711A>C (p.Thr571Pro)
c.1567A>C (p.Thr523Pro)
c.1678A>C (p.Thr560Pro)
c.1126A>C (p.Thr376Pro)
c.1093A>C (p.Thr365Pro)
c.1534A>C (p.Thr512Pro)
c.1240A>C (p.Thr414Pro)
c.1279A>C (p.Thr427Pro)
c.1273A>C (p.Thr425Pro)
c.1669A>C (p.Thr557Pro)
c.1702A>C (p.Thr568Pro)
c.1558A>C (p.Thr520Pro)
c.1417A>C (p.Thr473Pro)
 dbSNP
14g.73276823T=CA2146520963NUMBc.1711A= (p.Thr571=)
c.1567A= (p.Thr523=)
c.1678A= (p.Thr560=)
c.1126A= (p.Thr376=)
c.1093A= (p.Thr365=)
c.1534A= (p.Thr512=)
c.1240A= (p.Thr414=)
c.1279A= (p.Thr427=)
c.1273A= (p.Thr425=)
c.1669A= (p.Thr557=)
c.1702A= (p.Thr568=)
c.1558A= (p.Thr520=)
c.1417A= (p.Thr473=)
14g.73276824A>CCA487257817NUMBc.1710T>G (p.Ala570=)
c.1566T>G (p.Ala522=)
c.1677T>G (p.Ala559=)
c.1125T>G (p.Ala375=)
c.1092T>G (p.Ala364=)
c.1533T>G (p.Ala511=)
c.1239T>G (p.Ala413=)
c.1278T>G (p.Ala426=)
c.1272T>G (p.Ala424=)
c.1668T>G (p.Ala556=)
c.1701T>G (p.Ala567=)
c.1557T>G (p.Ala519=)
c.1416T>G (p.Ala472=)
14g.73276824A>GCA487257818NUMBc.1710T>C (p.Ala570=)
c.1566T>C (p.Ala522=)
c.1677T>C (p.Ala559=)
c.1125T>C (p.Ala375=)
c.1092T>C (p.Ala364=)
c.1533T>C (p.Ala511=)
c.1239T>C (p.Ala413=)
c.1278T>C (p.Ala426=)
c.1272T>C (p.Ala424=)
c.1668T>C (p.Ala556=)
c.1701T>C (p.Ala567=)
c.1557T>C (p.Ala519=)
c.1416T>C (p.Ala472=)
14g.73276824A>TCA487257819NUMBc.1710T>A (p.Ala570=)
c.1566T>A (p.Ala522=)
c.1677T>A (p.Ala559=)
c.1125T>A (p.Ala375=)
c.1092T>A (p.Ala364=)
c.1533T>A (p.Ala511=)
c.1239T>A (p.Ala413=)
c.1278T>A (p.Ala426=)
c.1272T>A (p.Ala424=)
c.1668T>A (p.Ala556=)
c.1701T>A (p.Ala567=)
c.1557T>A (p.Ala519=)
c.1416T>A (p.Ala472=)
14g.73276825G>ACA262630555NUMBc.1709C>T (p.Ala570Val)
c.1565C>T (p.Ala522Val)
c.1676C>T (p.Ala559Val)
c.1124C>T (p.Ala375Val)
c.1091C>T (p.Ala364Val)
c.1532C>T (p.Ala511Val)
c.1238C>T (p.Ala413Val)
c.1277C>T (p.Ala426Val)
c.1271C>T (p.Ala424Val)
c.1667C>T (p.Ala556Val)
c.1700C>T (p.Ala567Val)
c.1556C>T (p.Ala519Val)
c.1415C>T (p.Ala472Val)
 dbSNP
14g.73276825G>CCA262630558NUMBc.1709C>G (p.Ala570Gly)
c.1565C>G (p.Ala522Gly)
c.1676C>G (p.Ala559Gly)
c.1124C>G (p.Ala375Gly)
c.1091C>G (p.Ala364Gly)
c.1532C>G (p.Ala511Gly)
c.1238C>G (p.Ala413Gly)
c.1277C>G (p.Ala426Gly)
c.1271C>G (p.Ala424Gly)
c.1667C>G (p.Ala556Gly)
c.1700C>G (p.Ala567Gly)
c.1556C>G (p.Ala519Gly)
c.1415C>G (p.Ala472Gly)
 dbSNP gnomAD v4
14g.73276825G=CA2146520964NUMBc.1709C= (p.Ala570=)
c.1565C= (p.Ala522=)
c.1676C= (p.Ala559=)
c.1124C= (p.Ala375=)
c.1091C= (p.Ala364=)
c.1532C= (p.Ala511=)
c.1238C= (p.Ala413=)
c.1277C= (p.Ala426=)
c.1271C= (p.Ala424=)
c.1667C= (p.Ala556=)
c.1700C= (p.Ala567=)
c.1556C= (p.Ala519=)
c.1415C= (p.Ala472=)
14g.73276825G>TCA390336816NUMBc.1709C>A (p.Ala570Asp)
c.1565C>A (p.Ala522Asp)
c.1676C>A (p.Ala559Asp)
c.1124C>A (p.Ala375Asp)
c.1091C>A (p.Ala364Asp)
c.1532C>A (p.Ala511Asp)
c.1238C>A (p.Ala413Asp)
c.1277C>A (p.Ala426Asp)
c.1271C>A (p.Ala424Asp)
c.1667C>A (p.Ala556Asp)
c.1700C>A (p.Ala567Asp)
c.1556C>A (p.Ala519Asp)
c.1415C>A (p.Ala472Asp)
14g.73276826C>ACA390336819NUMBc.1708G>T (p.Ala570Ser)
c.1564G>T (p.Ala522Ser)
c.1675G>T (p.Ala559Ser)
c.1123G>T (p.Ala375Ser)
c.1090G>T (p.Ala364Ser)
c.1531G>T (p.Ala511Ser)
c.1237G>T (p.Ala413Ser)
c.1276G>T (p.Ala426Ser)
c.1270G>T (p.Ala424Ser)
c.1666G>T (p.Ala556Ser)
c.1699G>T (p.Ala567Ser)
c.1555G>T (p.Ala519Ser)
c.1414G>T (p.Ala472Ser)
14g.73276826C=CA2146520965NUMBc.1708G= (p.Ala570=)
c.1564G= (p.Ala522=)
c.1675G= (p.Ala559=)
c.1123G= (p.Ala375=)
c.1090G= (p.Ala364=)
c.1531G= (p.Ala511=)
c.1237G= (p.Ala413=)
c.1276G= (p.Ala426=)
c.1270G= (p.Ala424=)
c.1666G= (p.Ala556=)
c.1699G= (p.Ala567=)
c.1555G= (p.Ala519=)
c.1414G= (p.Ala472=)
14g.73276826C>GCA390336821NUMBc.1708G>C (p.Ala570Pro)
c.1564G>C (p.Ala522Pro)
c.1675G>C (p.Ala559Pro)
c.1123G>C (p.Ala375Pro)
c.1090G>C (p.Ala364Pro)
c.1531G>C (p.Ala511Pro)
c.1237G>C (p.Ala413Pro)
c.1276G>C (p.Ala426Pro)
c.1270G>C (p.Ala424Pro)
c.1666G>C (p.Ala556Pro)
c.1699G>C (p.Ala567Pro)
c.1555G>C (p.Ala519Pro)
c.1414G>C (p.Ala472Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.73276826C>TCA262630560NUMBc.1708G>A (p.Ala570Thr)
c.1564G>A (p.Ala522Thr)
c.1675G>A (p.Ala559Thr)
c.1123G>A (p.Ala375Thr)
c.1090G>A (p.Ala364Thr)
c.1531G>A (p.Ala511Thr)
c.1237G>A (p.Ala413Thr)
c.1276G>A (p.Ala426Thr)
c.1270G>A (p.Ala424Thr)
c.1666G>A (p.Ala556Thr)
c.1699G>A (p.Ala567Thr)
c.1555G>A (p.Ala519Thr)
c.1414G>A (p.Ala472Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.73276827A>CCA390336825NUMBc.1707T>G (p.Ser569Arg)
c.1563T>G (p.Ser521Arg)
c.1674T>G (p.Ser558Arg)
c.1122T>G (p.Ser374Arg)
c.1089T>G (p.Ser363Arg)
c.1530T>G (p.Ser510Arg)
c.1236T>G (p.Ser412Arg)
c.1275T>G (p.Ser425Arg)
c.1269T>G (p.Ser423Arg)
c.1665T>G (p.Ser555Arg)
c.1698T>G (p.Ser566Arg)
c.1554T>G (p.Ser518Arg)
c.1413T>G (p.Ser471Arg)
14g.73276827A>GCA487256714NUMBc.1707T>C (p.Ser569=)
c.1563T>C (p.Ser521=)
c.1674T>C (p.Ser558=)
c.1122T>C (p.Ser374=)
c.1089T>C (p.Ser363=)
c.1530T>C (p.Ser510=)
c.1236T>C (p.Ser412=)
c.1275T>C (p.Ser425=)
c.1269T>C (p.Ser423=)
c.1665T>C (p.Ser555=)
c.1698T>C (p.Ser566=)
c.1554T>C (p.Ser518=)
c.1413T>C (p.Ser471=)
14g.73276827A>TCA390336828NUMBc.1707T>A (p.Ser569Arg)
c.1563T>A (p.Ser521Arg)
c.1674T>A (p.Ser558Arg)
c.1122T>A (p.Ser374Arg)
c.1089T>A (p.Ser363Arg)
c.1530T>A (p.Ser510Arg)
c.1236T>A (p.Ser412Arg)
c.1275T>A (p.Ser425Arg)
c.1269T>A (p.Ser423Arg)
c.1665T>A (p.Ser555Arg)
c.1698T>A (p.Ser566Arg)
c.1554T>A (p.Ser518Arg)
c.1413T>A (p.Ser471Arg)
14g.73276828C>ACA390336835NUMBc.1706G>T (p.Ser569Ile)
c.1562G>T (p.Ser521Ile)
c.1673G>T (p.Ser558Ile)
c.1121G>T (p.Ser374Ile)
c.1088G>T (p.Ser363Ile)
c.1529G>T (p.Ser510Ile)
c.1235G>T (p.Ser412Ile)
c.1274G>T (p.Ser425Ile)
c.1268G>T (p.Ser423Ile)
c.1664G>T (p.Ser555Ile)
c.1697G>T (p.Ser566Ile)
c.1553G>T (p.Ser518Ile)
c.1412G>T (p.Ser471Ile)
 gnomAD v4
14g.73276828C>GCA390336833NUMBc.1706G>C (p.Ser569Thr)
c.1562G>C (p.Ser521Thr)
c.1673G>C (p.Ser558Thr)
c.1121G>C (p.Ser374Thr)
c.1088G>C (p.Ser363Thr)
c.1529G>C (p.Ser510Thr)
c.1235G>C (p.Ser412Thr)
c.1274G>C (p.Ser425Thr)
c.1268G>C (p.Ser423Thr)
c.1664G>C (p.Ser555Thr)
c.1697G>C (p.Ser566Thr)
c.1553G>C (p.Ser518Thr)
c.1412G>C (p.Ser471Thr)
14g.73276828C>TCA390336831NUMBc.1706G>A (p.Ser569Asn)
c.1562G>A (p.Ser521Asn)
c.1673G>A (p.Ser558Asn)
c.1121G>A (p.Ser374Asn)
c.1088G>A (p.Ser363Asn)
c.1529G>A (p.Ser510Asn)
c.1235G>A (p.Ser412Asn)
c.1274G>A (p.Ser425Asn)
c.1268G>A (p.Ser423Asn)
c.1664G>A (p.Ser555Asn)
c.1697G>A (p.Ser566Asn)
c.1553G>A (p.Ser518Asn)
c.1412G>A (p.Ser471Asn)
14g.73276829T>ACA390336837NUMBc.1705A>T (p.Ser569Cys)
c.1561A>T (p.Ser521Cys)
c.1672A>T (p.Ser558Cys)
c.1120A>T (p.Ser374Cys)
c.1087A>T (p.Ser363Cys)
c.1528A>T (p.Ser510Cys)
c.1234A>T (p.Ser412Cys)
c.1273A>T (p.Ser425Cys)
c.1267A>T (p.Ser423Cys)
c.1663A>T (p.Ser555Cys)
c.1696A>T (p.Ser566Cys)
c.1552A>T (p.Ser518Cys)
c.1411A>T (p.Ser471Cys)
14g.73276829T>CCA390336840NUMBc.1705A>G (p.Ser569Gly)
c.1561A>G (p.Ser521Gly)
c.1672A>G (p.Ser558Gly)
c.1120A>G (p.Ser374Gly)
c.1087A>G (p.Ser363Gly)
c.1528A>G (p.Ser510Gly)
c.1234A>G (p.Ser412Gly)
c.1273A>G (p.Ser425Gly)
c.1267A>G (p.Ser423Gly)
c.1663A>G (p.Ser555Gly)
c.1696A>G (p.Ser566Gly)
c.1552A>G (p.Ser518Gly)
c.1411A>G (p.Ser471Gly)
14g.73276829T>GCA390336843NUMBc.1705A>C (p.Ser569Arg)
c.1561A>C (p.Ser521Arg)
c.1672A>C (p.Ser558Arg)
c.1120A>C (p.Ser374Arg)
c.1087A>C (p.Ser363Arg)
c.1528A>C (p.Ser510Arg)
c.1234A>C (p.Ser412Arg)
c.1273A>C (p.Ser425Arg)
c.1267A>C (p.Ser423Arg)
c.1663A>C (p.Ser555Arg)
c.1696A>C (p.Ser566Arg)
c.1552A>C (p.Ser518Arg)
c.1411A>C (p.Ser471Arg)
14g.73276830G>ACA487256719NUMBc.1704C>T (p.Ser568=)
c.1560C>T (p.Ser520=)
c.1671C>T (p.Ser557=)
c.1119C>T (p.Ser373=)
c.1086C>T (p.Ser362=)
c.1527C>T (p.Ser509=)
c.1233C>T (p.Ser411=)
c.1272C>T (p.Ser424=)
c.1266C>T (p.Ser422=)
c.1662C>T (p.Ser554=)
c.1695C>T (p.Ser565=)
c.1551C>T (p.Ser517=)
c.1410C>T (p.Ser470=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.73276830G>CCA390336846NUMBc.1704C>G (p.Ser568Arg)
c.1560C>G (p.Ser520Arg)
c.1671C>G (p.Ser557Arg)
c.1119C>G (p.Ser373Arg)
c.1086C>G (p.Ser362Arg)
c.1527C>G (p.Ser509Arg)
c.1233C>G (p.Ser411Arg)
c.1272C>G (p.Ser424Arg)
c.1266C>G (p.Ser422Arg)
c.1662C>G (p.Ser554Arg)
c.1695C>G (p.Ser565Arg)
c.1551C>G (p.Ser517Arg)
c.1410C>G (p.Ser470Arg)
 gnomAD v4
14g.73276830G=CA2146520966NUMBc.1704C= (p.Ser568=)
c.1560C= (p.Ser520=)
c.1671C= (p.Ser557=)
c.1119C= (p.Ser373=)
c.1086C= (p.Ser362=)
c.1527C= (p.Ser509=)
c.1233C= (p.Ser411=)
c.1272C= (p.Ser424=)
c.1266C= (p.Ser422=)
c.1662C= (p.Ser554=)
c.1695C= (p.Ser565=)
c.1551C= (p.Ser517=)
c.1410C= (p.Ser470=)
14g.73276830G>TCA390336847NUMBc.1704C>A (p.Ser568Arg)
c.1560C>A (p.Ser520Arg)
c.1671C>A (p.Ser557Arg)
c.1119C>A (p.Ser373Arg)
c.1086C>A (p.Ser362Arg)
c.1527C>A (p.Ser509Arg)
c.1233C>A (p.Ser411Arg)
c.1272C>A (p.Ser424Arg)
c.1266C>A (p.Ser422Arg)
c.1662C>A (p.Ser554Arg)
c.1695C>A (p.Ser565Arg)
c.1551C>A (p.Ser517Arg)
c.1410C>A (p.Ser470Arg)
14g.73276831C>ACA390336850NUMBc.1703G>T (p.Ser568Ile)
c.1559G>T (p.Ser520Ile)
c.1670G>T (p.Ser557Ile)
c.1118G>T (p.Ser373Ile)
c.1085G>T (p.Ser362Ile)
c.1526G>T (p.Ser509Ile)
c.1232G>T (p.Ser411Ile)
c.1271G>T (p.Ser424Ile)
c.1265G>T (p.Ser422Ile)
c.1661G>T (p.Ser554Ile)
c.1694G>T (p.Ser565Ile)
c.1550G>T (p.Ser517Ile)
c.1409G>T (p.Ser470Ile)
14g.73276831C>GCA390336855NUMBc.1703G>C (p.Ser568Thr)
c.1559G>C (p.Ser520Thr)
c.1670G>C (p.Ser557Thr)
c.1118G>C (p.Ser373Thr)
c.1085G>C (p.Ser362Thr)
c.1526G>C (p.Ser509Thr)
c.1232G>C (p.Ser411Thr)
c.1271G>C (p.Ser424Thr)
c.1265G>C (p.Ser422Thr)
c.1661G>C (p.Ser554Thr)
c.1694G>C (p.Ser565Thr)
c.1550G>C (p.Ser517Thr)
c.1409G>C (p.Ser470Thr)
14g.73276831C>TCA390336857NUMBc.1703G>A (p.Ser568Asn)
c.1559G>A (p.Ser520Asn)
c.1670G>A (p.Ser557Asn)
c.1118G>A (p.Ser373Asn)
c.1085G>A (p.Ser362Asn)
c.1526G>A (p.Ser509Asn)
c.1232G>A (p.Ser411Asn)
c.1271G>A (p.Ser424Asn)
c.1265G>A (p.Ser422Asn)
c.1661G>A (p.Ser554Asn)
c.1694G>A (p.Ser565Asn)
c.1550G>A (p.Ser517Asn)
c.1409G>A (p.Ser470Asn)
 gnomAD v4
14g.73276832T>ACA390336859NUMBc.1702A>T (p.Ser568Cys)
c.1558A>T (p.Ser520Cys)
c.1669A>T (p.Ser557Cys)
c.1117A>T (p.Ser373Cys)
c.1084A>T (p.Ser362Cys)
c.1525A>T (p.Ser509Cys)
c.1231A>T (p.Ser411Cys)
c.1270A>T (p.Ser424Cys)
c.1264A>T (p.Ser422Cys)
c.1660A>T (p.Ser554Cys)
c.1693A>T (p.Ser565Cys)
c.1549A>T (p.Ser517Cys)
c.1408A>T (p.Ser470Cys)
14g.73276832T>CCA390336862NUMBc.1702A>G (p.Ser568Gly)
c.1558A>G (p.Ser520Gly)
c.1669A>G (p.Ser557Gly)
c.1117A>G (p.Ser373Gly)
c.1084A>G (p.Ser362Gly)
c.1525A>G (p.Ser509Gly)
c.1231A>G (p.Ser411Gly)
c.1270A>G (p.Ser424Gly)
c.1264A>G (p.Ser422Gly)
c.1660A>G (p.Ser554Gly)
c.1693A>G (p.Ser565Gly)
c.1549A>G (p.Ser517Gly)
c.1408A>G (p.Ser470Gly)
14g.73276832T>GCA390336865NUMBc.1702A>C (p.Ser568Arg)
c.1558A>C (p.Ser520Arg)
c.1669A>C (p.Ser557Arg)
c.1117A>C (p.Ser373Arg)
c.1084A>C (p.Ser362Arg)
c.1525A>C (p.Ser509Arg)
c.1231A>C (p.Ser411Arg)
c.1270A>C (p.Ser424Arg)
c.1264A>C (p.Ser422Arg)
c.1660A>C (p.Ser554Arg)
c.1693A>C (p.Ser565Arg)
c.1549A>C (p.Ser517Arg)
c.1408A>C (p.Ser470Arg)
14g.73276833T>ACA487256727NUMBc.1701A>T (p.Ala567=)
c.1557A>T (p.Ala519=)
c.1668A>T (p.Ala556=)
c.1116A>T (p.Ala372=)
c.1083A>T (p.Ala361=)
c.1524A>T (p.Ala508=)
c.1230A>T (p.Ala410=)
c.1269A>T (p.Ala423=)
c.1263A>T (p.Ala421=)
c.1659A>T (p.Ala553=)
c.1692A>T (p.Ala564=)
c.1548A>T (p.Ala516=)
c.1407A>T (p.Ala469=)
14g.73276833T>CCA487256728NUMBc.1701A>G (p.Ala567=)
c.1557A>G (p.Ala519=)
c.1668A>G (p.Ala556=)
c.1116A>G (p.Ala372=)
c.1083A>G (p.Ala361=)
c.1524A>G (p.Ala508=)
c.1230A>G (p.Ala410=)
c.1269A>G (p.Ala423=)
c.1263A>G (p.Ala421=)
c.1659A>G (p.Ala553=)
c.1692A>G (p.Ala564=)
c.1548A>G (p.Ala516=)
c.1407A>G (p.Ala469=)
14g.73276833T>GCA487256729NUMBc.1701A>C (p.Ala567=)
c.1557A>C (p.Ala519=)
c.1668A>C (p.Ala556=)
c.1116A>C (p.Ala372=)
c.1083A>C (p.Ala361=)
c.1524A>C (p.Ala508=)
c.1230A>C (p.Ala410=)
c.1269A>C (p.Ala423=)
c.1263A>C (p.Ala421=)
c.1659A>C (p.Ala553=)
c.1692A>C (p.Ala564=)
c.1548A>C (p.Ala516=)
c.1407A>C (p.Ala469=)
14g.73276834G>ACA390336871NUMBc.1700C>T (p.Ala567Val)
c.1556C>T (p.Ala519Val)
c.1667C>T (p.Ala556Val)
c.1115C>T (p.Ala372Val)
c.1082C>T (p.Ala361Val)
c.1523C>T (p.Ala508Val)
c.1229C>T (p.Ala410Val)
c.1268C>T (p.Ala423Val)
c.1262C>T (p.Ala421Val)
c.1658C>T (p.Ala553Val)
c.1691C>T (p.Ala564Val)
c.1547C>T (p.Ala516Val)
c.1406C>T (p.Ala469Val)
 dbSNP
14g.73276834G>CCA390336872NUMBc.1700C>G (p.Ala567Gly)
c.1556C>G (p.Ala519Gly)
c.1667C>G (p.Ala556Gly)
c.1115C>G (p.Ala372Gly)
c.1082C>G (p.Ala361Gly)
c.1523C>G (p.Ala508Gly)
c.1229C>G (p.Ala410Gly)
c.1268C>G (p.Ala423Gly)
c.1262C>G (p.Ala421Gly)
c.1658C>G (p.Ala553Gly)
c.1691C>G (p.Ala564Gly)
c.1547C>G (p.Ala516Gly)
c.1406C>G (p.Ala469Gly)
14g.73276834G>TCA390336875NUMBc.1700C>A (p.Ala567Glu)
c.1556C>A (p.Ala519Glu)
c.1667C>A (p.Ala556Glu)
c.1115C>A (p.Ala372Glu)
c.1082C>A (p.Ala361Glu)
c.1523C>A (p.Ala508Glu)
c.1229C>A (p.Ala410Glu)
c.1268C>A (p.Ala423Glu)
c.1262C>A (p.Ala421Glu)
c.1658C>A (p.Ala553Glu)
c.1691C>A (p.Ala564Glu)
c.1547C>A (p.Ala516Glu)
c.1406C>A (p.Ala469Glu)
14g.73276835C>ACA7258665NUMBc.1699G>T (p.Ala567Ser)
c.1555G>T (p.Ala519Ser)
c.1666G>T (p.Ala556Ser)
c.1114G>T (p.Ala372Ser)
c.1081G>T (p.Ala361Ser)
c.1522G>T (p.Ala508Ser)
c.1228G>T (p.Ala410Ser)
c.1267G>T (p.Ala423Ser)
c.1261G>T (p.Ala421Ser)
c.1657G>T (p.Ala553Ser)
c.1690G>T (p.Ala564Ser)
c.1546G>T (p.Ala516Ser)
c.1405G>T (p.Ala469Ser)
 dbSNP ExAC gnomAD v2
14g.73276835C=CA2146520967NUMBc.1699G= (p.Ala567=)
c.1555G= (p.Ala519=)
c.1666G= (p.Ala556=)
c.1114G= (p.Ala372=)
c.1081G= (p.Ala361=)
c.1522G= (p.Ala508=)
c.1228G= (p.Ala410=)
c.1267G= (p.Ala423=)
c.1261G= (p.Ala421=)
c.1657G= (p.Ala553=)
c.1690G= (p.Ala564=)
c.1546G= (p.Ala516=)
c.1405G= (p.Ala469=)
14g.73276835C>GCA390336889NUMBc.1699G>C (p.Ala567Pro)
c.1555G>C (p.Ala519Pro)
c.1666G>C (p.Ala556Pro)
c.1114G>C (p.Ala372Pro)
c.1081G>C (p.Ala361Pro)
c.1522G>C (p.Ala508Pro)
c.1228G>C (p.Ala410Pro)
c.1267G>C (p.Ala423Pro)
c.1261G>C (p.Ala421Pro)
c.1657G>C (p.Ala553Pro)
c.1690G>C (p.Ala564Pro)
c.1546G>C (p.Ala516Pro)
c.1405G>C (p.Ala469Pro)
14g.73276835C>TCA390336879NUMBc.1699G>A (p.Ala567Thr)
c.1555G>A (p.Ala519Thr)
c.1666G>A (p.Ala556Thr)
c.1114G>A (p.Ala372Thr)
c.1081G>A (p.Ala361Thr)
c.1522G>A (p.Ala508Thr)
c.1228G>A (p.Ala410Thr)
c.1267G>A (p.Ala423Thr)
c.1261G>A (p.Ala421Thr)
c.1657G>A (p.Ala553Thr)
c.1690G>A (p.Ala564Thr)
c.1546G>A (p.Ala516Thr)
c.1405G>A (p.Ala469Thr)
 COSMIC
14g.73276836C>ACA390336893NUMBc.1698G>T (p.Glu566Asp)
c.1554G>T (p.Glu518Asp)
c.1665G>T (p.Glu555Asp)
c.1113G>T (p.Glu371Asp)
c.1080G>T (p.Glu360Asp)
c.1521G>T (p.Glu507Asp)
c.1227G>T (p.Glu409Asp)
c.1266G>T (p.Glu422Asp)
c.1260G>T (p.Glu420Asp)
c.1656G>T (p.Glu552Asp)
c.1689G>T (p.Glu563Asp)
c.1545G>T (p.Glu515Asp)
c.1404G>T (p.Glu468Asp)
14g.73276836C=CA2146520968NUMBc.1698G= (p.Glu566=)
c.1554G= (p.Glu518=)
c.1665G= (p.Glu555=)
c.1113G= (p.Glu371=)
c.1080G= (p.Glu360=)
c.1521G= (p.Glu507=)
c.1227G= (p.Glu409=)
c.1266G= (p.Glu422=)
c.1260G= (p.Glu420=)
c.1656G= (p.Glu552=)
c.1689G= (p.Glu563=)
c.1545G= (p.Glu515=)
c.1404G= (p.Glu468=)
14g.73276836C>GCA390336895NUMBc.1698G>C (p.Glu566Asp)
c.1554G>C (p.Glu518Asp)
c.1665G>C (p.Glu555Asp)
c.1113G>C (p.Glu371Asp)
c.1080G>C (p.Glu360Asp)
c.1521G>C (p.Glu507Asp)
c.1227G>C (p.Glu409Asp)
c.1266G>C (p.Glu422Asp)
c.1260G>C (p.Glu420Asp)
c.1656G>C (p.Glu552Asp)
c.1689G>C (p.Glu563Asp)
c.1545G>C (p.Glu515Asp)
c.1404G>C (p.Glu468Asp)
14g.73276836C>TCA487256735NUMBc.1698G>A (p.Glu566=)
c.1554G>A (p.Glu518=)
c.1665G>A (p.Glu555=)
c.1113G>A (p.Glu371=)
c.1080G>A (p.Glu360=)
c.1521G>A (p.Glu507=)
c.1227G>A (p.Glu409=)
c.1266G>A (p.Glu422=)
c.1260G>A (p.Glu420=)
c.1656G>A (p.Glu552=)
c.1689G>A (p.Glu563=)
c.1545G>A (p.Glu515=)
c.1404G>A (p.Glu468=)
 dbSNP gnomAD v2 gnomAD v4
14g.73276837T>ACA390336899NUMBc.1697A>T (p.Glu566Val)
c.1553A>T (p.Glu518Val)
c.1664A>T (p.Glu555Val)
c.1112A>T (p.Glu371Val)
c.1079A>T (p.Glu360Val)
c.1520A>T (p.Glu507Val)
c.1226A>T (p.Glu409Val)
c.1265A>T (p.Glu422Val)
c.1259A>T (p.Glu420Val)
c.1655A>T (p.Glu552Val)
c.1688A>T (p.Glu563Val)
c.1544A>T (p.Glu515Val)
c.1403A>T (p.Glu468Val)
14g.73276837T>CCA390336903NUMBc.1697A>G (p.Glu566Gly)
c.1553A>G (p.Glu518Gly)
c.1664A>G (p.Glu555Gly)
c.1112A>G (p.Glu371Gly)
c.1079A>G (p.Glu360Gly)
c.1520A>G (p.Glu507Gly)
c.1226A>G (p.Glu409Gly)
c.1265A>G (p.Glu422Gly)
c.1259A>G (p.Glu420Gly)
c.1655A>G (p.Glu552Gly)
c.1688A>G (p.Glu563Gly)
c.1544A>G (p.Glu515Gly)
c.1403A>G (p.Glu468Gly)
14g.73276837T>GCA390336906NUMBc.1697A>C (p.Glu566Ala)
c.1553A>C (p.Glu518Ala)
c.1664A>C (p.Glu555Ala)
c.1112A>C (p.Glu371Ala)
c.1079A>C (p.Glu360Ala)
c.1520A>C (p.Glu507Ala)
c.1226A>C (p.Glu409Ala)
c.1265A>C (p.Glu422Ala)
c.1259A>C (p.Glu420Ala)
c.1655A>C (p.Glu552Ala)
c.1688A>C (p.Glu563Ala)
c.1544A>C (p.Glu515Ala)
c.1403A>C (p.Glu468Ala)
14g.73276838C>ACA390336913NUMBc.1696G>T (p.Glu566Ter)
c.1552G>T (p.Glu518Ter)
c.1663G>T (p.Glu555Ter)
c.1111G>T (p.Glu371Ter)
c.1078G>T (p.Glu360Ter)
c.1519G>T (p.Glu507Ter)
c.1225G>T (p.Glu409Ter)
c.1264G>T (p.Glu422Ter)
c.1258G>T (p.Glu420Ter)
c.1654G>T (p.Glu552Ter)
c.1687G>T (p.Glu563Ter)
c.1543G>T (p.Glu515Ter)
c.1402G>T (p.Glu468Ter)
14g.73276838C=CA2146520969NUMBc.1696G= (p.Glu566=)
c.1552G= (p.Glu518=)
c.1663G= (p.Glu555=)
c.1111G= (p.Glu371=)
c.1078G= (p.Glu360=)
c.1519G= (p.Glu507=)
c.1225G= (p.Glu409=)
c.1264G= (p.Glu422=)
c.1258G= (p.Glu420=)
c.1654G= (p.Glu552=)
c.1687G= (p.Glu563=)
c.1543G= (p.Glu515=)
c.1402G= (p.Glu468=)
14g.73276838C>GCA390336910NUMBc.1696G>C (p.Glu566Gln)
c.1552G>C (p.Glu518Gln)
c.1663G>C (p.Glu555Gln)
c.1111G>C (p.Glu371Gln)
c.1078G>C (p.Glu360Gln)
c.1519G>C (p.Glu507Gln)
c.1225G>C (p.Glu409Gln)
c.1264G>C (p.Glu422Gln)
c.1258G>C (p.Glu420Gln)
c.1654G>C (p.Glu552Gln)
c.1687G>C (p.Glu563Gln)
c.1543G>C (p.Glu515Gln)
c.1402G>C (p.Glu468Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.73276838C>TCA262630563NUMBc.1696G>A (p.Glu566Lys)
c.1552G>A (p.Glu518Lys)
c.1663G>A (p.Glu555Lys)
c.1111G>A (p.Glu371Lys)
c.1078G>A (p.Glu360Lys)
c.1519G>A (p.Glu507Lys)
c.1225G>A (p.Glu409Lys)
c.1264G>A (p.Glu422Lys)
c.1258G>A (p.Glu420Lys)
c.1654G>A (p.Glu552Lys)
c.1687G>A (p.Glu563Lys)
c.1543G>A (p.Glu515Lys)
c.1402G>A (p.Glu468Lys)
 dbSNP gnomAD v4
14g.73276839G>ACA262630566NUMBc.1695C>T (p.Tyr565=)
c.1551C>T (p.Tyr517=)
c.1662C>T (p.Tyr554=)
c.1110C>T (p.Tyr370=)
c.1077C>T (p.Tyr359=)
c.1518C>T (p.Tyr506=)
c.1224C>T (p.Tyr408=)
c.1263C>T (p.Tyr421=)
c.1257C>T (p.Tyr419=)
c.1653C>T (p.Tyr551=)
c.1686C>T (p.Tyr562=)
c.1542C>T (p.Tyr514=)
c.1401C>T (p.Tyr467=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.73276839G>CCA390336924NUMBc.1695C>G (p.Tyr565Ter)
c.1551C>G (p.Tyr517Ter)
c.1662C>G (p.Tyr554Ter)
c.1110C>G (p.Tyr370Ter)
c.1077C>G (p.Tyr359Ter)
c.1518C>G (p.Tyr506Ter)
c.1224C>G (p.Tyr408Ter)
c.1263C>G (p.Tyr421Ter)
c.1257C>G (p.Tyr419Ter)
c.1653C>G (p.Tyr551Ter)
c.1686C>G (p.Tyr562Ter)
c.1542C>G (p.Tyr514Ter)
c.1401C>G (p.Tyr467Ter)
14g.73276839G=CA2146520970NUMBc.1695C= (p.Tyr565=)
c.1551C= (p.Tyr517=)
c.1662C= (p.Tyr554=)
c.1110C= (p.Tyr370=)
c.1077C= (p.Tyr359=)
c.1518C= (p.Tyr506=)
c.1224C= (p.Tyr408=)
c.1263C= (p.Tyr421=)
c.1257C= (p.Tyr419=)
c.1653C= (p.Tyr551=)
c.1686C= (p.Tyr562=)
c.1542C= (p.Tyr514=)
c.1401C= (p.Tyr467=)
14g.73276839G>TCA390336926NUMBc.1695C>A (p.Tyr565Ter)
c.1551C>A (p.Tyr517Ter)
c.1662C>A (p.Tyr554Ter)
c.1110C>A (p.Tyr370Ter)
c.1077C>A (p.Tyr359Ter)
c.1518C>A (p.Tyr506Ter)
c.1224C>A (p.Tyr408Ter)
c.1263C>A (p.Tyr421Ter)
c.1257C>A (p.Tyr419Ter)
c.1653C>A (p.Tyr551Ter)
c.1686C>A (p.Tyr562Ter)
c.1542C>A (p.Tyr514Ter)
c.1401C>A (p.Tyr467Ter)
14g.73276840T>ACA390336931NUMBc.1694A>T (p.Tyr565Phe)
c.1550A>T (p.Tyr517Phe)
c.1661A>T (p.Tyr554Phe)
c.1109A>T (p.Tyr370Phe)
c.1076A>T (p.Tyr359Phe)
c.1517A>T (p.Tyr506Phe)
c.1223A>T (p.Tyr408Phe)
c.1262A>T (p.Tyr421Phe)
c.1256A>T (p.Tyr419Phe)
c.1652A>T (p.Tyr551Phe)
c.1685A>T (p.Tyr562Phe)
c.1541A>T (p.Tyr514Phe)
c.1400A>T (p.Tyr467Phe)
14g.73276840T>CCA7258666NUMBc.1694A>G (p.Tyr565Cys)
c.1550A>G (p.Tyr517Cys)
c.1661A>G (p.Tyr554Cys)
c.1109A>G (p.Tyr370Cys)
c.1076A>G (p.Tyr359Cys)
c.1517A>G (p.Tyr506Cys)
c.1223A>G (p.Tyr408Cys)
c.1262A>G (p.Tyr421Cys)
c.1256A>G (p.Tyr419Cys)
c.1652A>G (p.Tyr551Cys)
c.1685A>G (p.Tyr562Cys)
c.1541A>G (p.Tyr514Cys)
c.1400A>G (p.Tyr467Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.73276840T>GCA390336935NUMBc.1694A>C (p.Tyr565Ser)
c.1550A>C (p.Tyr517Ser)
c.1661A>C (p.Tyr554Ser)
c.1109A>C (p.Tyr370Ser)
c.1076A>C (p.Tyr359Ser)
c.1517A>C (p.Tyr506Ser)
c.1223A>C (p.Tyr408Ser)
c.1262A>C (p.Tyr421Ser)
c.1256A>C (p.Tyr419Ser)
c.1652A>C (p.Tyr551Ser)
c.1685A>C (p.Tyr562Ser)
c.1541A>C (p.Tyr514Ser)
c.1400A>C (p.Tyr467Ser)
14g.73276840T=CA2146520971NUMBc.1694A= (p.Tyr565=)
c.1550A= (p.Tyr517=)
c.1661A= (p.Tyr554=)
c.1109A= (p.Tyr370=)
c.1076A= (p.Tyr359=)
c.1517A= (p.Tyr506=)
c.1223A= (p.Tyr408=)
c.1262A= (p.Tyr421=)
c.1256A= (p.Tyr419=)
c.1652A= (p.Tyr551=)
c.1685A= (p.Tyr562=)
c.1541A= (p.Tyr514=)
c.1400A= (p.Tyr467=)
14g.73276841A>CCA390336938NUMBc.1693T>G (p.Tyr565Asp)
c.1549T>G (p.Tyr517Asp)
c.1660T>G (p.Tyr554Asp)
c.1108T>G (p.Tyr370Asp)
c.1075T>G (p.Tyr359Asp)
c.1516T>G (p.Tyr506Asp)
c.1222T>G (p.Tyr408Asp)
c.1261T>G (p.Tyr421Asp)
c.1255T>G (p.Tyr419Asp)
c.1651T>G (p.Tyr551Asp)
c.1684T>G (p.Tyr562Asp)
c.1540T>G (p.Tyr514Asp)
c.1399T>G (p.Tyr467Asp)
14g.73276841A>GCA390336943NUMBc.1693T>C (p.Tyr565His)
c.1549T>C (p.Tyr517His)
c.1660T>C (p.Tyr554His)
c.1108T>C (p.Tyr370His)
c.1075T>C (p.Tyr359His)
c.1516T>C (p.Tyr506His)
c.1222T>C (p.Tyr408His)
c.1261T>C (p.Tyr421His)
c.1255T>C (p.Tyr419His)
c.1651T>C (p.Tyr551His)
c.1684T>C (p.Tyr562His)
c.1540T>C (p.Tyr514His)
c.1399T>C (p.Tyr467His)
 gnomAD v4
14g.73276841A>TCA390336940NUMBc.1693T>A (p.Tyr565Asn)
c.1549T>A (p.Tyr517Asn)
c.1660T>A (p.Tyr554Asn)
c.1108T>A (p.Tyr370Asn)
c.1075T>A (p.Tyr359Asn)
c.1516T>A (p.Tyr506Asn)
c.1222T>A (p.Tyr408Asn)
c.1261T>A (p.Tyr421Asn)
c.1255T>A (p.Tyr419Asn)
c.1651T>A (p.Tyr551Asn)
c.1684T>A (p.Tyr562Asn)
c.1540T>A (p.Tyr514Asn)
c.1399T>A (p.Tyr467Asn)
14g.73276842G>ACA487256752NUMBc.1692C>T (p.His564=)
c.1548C>T (p.His516=)
c.1659C>T (p.His553=)
c.1107C>T (p.His369=)
c.1074C>T (p.His358=)
c.1515C>T (p.His505=)
c.1221C>T (p.His407=)
c.1260C>T (p.His420=)
c.1254C>T (p.His418=)
c.1650C>T (p.His550=)
c.1683C>T (p.His561=)
c.1539C>T (p.His513=)
c.1398C>T (p.His466=)
14g.73276842G>CCA390336946NUMBc.1692C>G (p.His564Gln)
c.1548C>G (p.His516Gln)
c.1659C>G (p.His553Gln)
c.1107C>G (p.His369Gln)
c.1074C>G (p.His358Gln)
c.1515C>G (p.His505Gln)
c.1221C>G (p.His407Gln)
c.1260C>G (p.His420Gln)
c.1254C>G (p.His418Gln)
c.1650C>G (p.His550Gln)
c.1683C>G (p.His561Gln)
c.1539C>G (p.His513Gln)
c.1398C>G (p.His466Gln)
 dbSNP gnomAD v4
14g.73276842G>TCA390336948NUMBc.1692C>A (p.His564Gln)
c.1548C>A (p.His516Gln)
c.1659C>A (p.His553Gln)
c.1107C>A (p.His369Gln)
c.1074C>A (p.His358Gln)
c.1515C>A (p.His505Gln)
c.1221C>A (p.His407Gln)
c.1260C>A (p.His420Gln)
c.1254C>A (p.His418Gln)
c.1650C>A (p.His550Gln)
c.1683C>A (p.His561Gln)
c.1539C>A (p.His513Gln)
c.1398C>A (p.His466Gln)
 gnomAD v4
14g.73276843T>ACA390336950NUMBc.1691A>T (p.His564Leu)
c.1547A>T (p.His516Leu)
c.1658A>T (p.His553Leu)
c.1106A>T (p.His369Leu)
c.1073A>T (p.His358Leu)
c.1514A>T (p.His505Leu)
c.1220A>T (p.His407Leu)
c.1259A>T (p.His420Leu)
c.1253A>T (p.His418Leu)
c.1649A>T (p.His550Leu)
c.1682A>T (p.His561Leu)
c.1538A>T (p.His513Leu)
c.1397A>T (p.His466Leu)
14g.73276843T>CCA390336953NUMBc.1691A>G (p.His564Arg)
c.1547A>G (p.His516Arg)
c.1658A>G (p.His553Arg)
c.1106A>G (p.His369Arg)
c.1073A>G (p.His358Arg)
c.1514A>G (p.His505Arg)
c.1220A>G (p.His407Arg)
c.1259A>G (p.His420Arg)
c.1253A>G (p.His418Arg)
c.1649A>G (p.His550Arg)
c.1682A>G (p.His561Arg)
c.1538A>G (p.His513Arg)
c.1397A>G (p.His466Arg)
 gnomAD v4
14g.73276843T>GCA390336954NUMBc.1691A>C (p.His564Pro)
c.1547A>C (p.His516Pro)
c.1658A>C (p.His553Pro)
c.1106A>C (p.His369Pro)
c.1073A>C (p.His358Pro)
c.1514A>C (p.His505Pro)
c.1220A>C (p.His407Pro)
c.1259A>C (p.His420Pro)
c.1253A>C (p.His418Pro)
c.1649A>C (p.His550Pro)
c.1682A>C (p.His561Pro)
c.1538A>C (p.His513Pro)
c.1397A>C (p.His466Pro)
14g.73276844G>ACA390336957NUMBc.1690C>T (p.His564Tyr)
c.1546C>T (p.His516Tyr)
c.1657C>T (p.His553Tyr)
c.1105C>T (p.His369Tyr)
c.1072C>T (p.His358Tyr)
c.1513C>T (p.His505Tyr)
c.1219C>T (p.His407Tyr)
c.1258C>T (p.His420Tyr)
c.1252C>T (p.His418Tyr)
c.1648C>T (p.His550Tyr)
c.1681C>T (p.His561Tyr)
c.1537C>T (p.His513Tyr)
c.1396C>T (p.His466Tyr)
 gnomAD v4
14g.73276844G>CCA390336959NUMBc.1690C>G (p.His564Asp)
c.1546C>G (p.His516Asp)
c.1657C>G (p.His553Asp)
c.1105C>G (p.His369Asp)
c.1072C>G (p.His358Asp)
c.1513C>G (p.His505Asp)
c.1219C>G (p.His407Asp)
c.1258C>G (p.His420Asp)
c.1252C>G (p.His418Asp)
c.1648C>G (p.His550Asp)
c.1681C>G (p.His561Asp)
c.1537C>G (p.His513Asp)
c.1396C>G (p.His466Asp)
 gnomAD v4
14g.73276844G>TCA390336961NUMBc.1690C>A (p.His564Asn)
c.1546C>A (p.His516Asn)
c.1657C>A (p.His553Asn)
c.1105C>A (p.His369Asn)
c.1072C>A (p.His358Asn)
c.1513C>A (p.His505Asn)
c.1219C>A (p.His407Asn)
c.1258C>A (p.His420Asn)
c.1252C>A (p.His418Asn)
c.1648C>A (p.His550Asn)
c.1681C>A (p.His561Asn)
c.1537C>A (p.His513Asn)
c.1396C>A (p.His466Asn)
14g.73276845A>CCA487256755NUMBc.1689T>G (p.Pro563=)
c.1545T>G (p.Pro515=)
c.1656T>G (p.Pro552=)
c.1104T>G (p.Pro368=)
c.1071T>G (p.Pro357=)
c.1512T>G (p.Pro504=)
c.1218T>G (p.Pro406=)
c.1257T>G (p.Pro419=)
c.1251T>G (p.Pro417=)
c.1647T>G (p.Pro549=)
c.1680T>G (p.Pro560=)
c.1536T>G (p.Pro512=)
c.1395T>G (p.Pro465=)
14g.73276845A>GCA487256760NUMBc.1689T>C (p.Pro563=)
c.1545T>C (p.Pro515=)
c.1656T>C (p.Pro552=)
c.1104T>C (p.Pro368=)
c.1071T>C (p.Pro357=)
c.1512T>C (p.Pro504=)
c.1218T>C (p.Pro406=)
c.1257T>C (p.Pro419=)
c.1251T>C (p.Pro417=)
c.1647T>C (p.Pro549=)
c.1680T>C (p.Pro560=)
c.1536T>C (p.Pro512=)
c.1395T>C (p.Pro465=)
14g.73276845A>TCA487256762NUMBc.1689T>A (p.Pro563=)
c.1545T>A (p.Pro515=)
c.1656T>A (p.Pro552=)
c.1104T>A (p.Pro368=)
c.1071T>A (p.Pro357=)
c.1512T>A (p.Pro504=)
c.1218T>A (p.Pro406=)
c.1257T>A (p.Pro419=)
c.1251T>A (p.Pro417=)
c.1647T>A (p.Pro549=)
c.1680T>A (p.Pro560=)
c.1536T>A (p.Pro512=)
c.1395T>A (p.Pro465=)
14g.73276846G>ACA7258667NUMBc.1688C>T (p.Pro563Leu)
c.1544C>T (p.Pro515Leu)
c.1655C>T (p.Pro552Leu)
c.1103C>T (p.Pro368Leu)
c.1070C>T (p.Pro357Leu)
c.1511C>T (p.Pro504Leu)
c.1217C>T (p.Pro406Leu)
c.1256C>T (p.Pro419Leu)
c.1250C>T (p.Pro417Leu)
c.1646C>T (p.Pro549Leu)
c.1679C>T (p.Pro560Leu)
c.1535C>T (p.Pro512Leu)
c.1394C>T (p.Pro465Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.73276846G>CCA262630568NUMBc.1688C>G (p.Pro563Arg)
c.1544C>G (p.Pro515Arg)
c.1655C>G (p.Pro552Arg)
c.1103C>G (p.Pro368Arg)
c.1070C>G (p.Pro357Arg)
c.1511C>G (p.Pro504Arg)
c.1217C>G (p.Pro406Arg)
c.1256C>G (p.Pro419Arg)
c.1250C>G (p.Pro417Arg)
c.1646C>G (p.Pro549Arg)
c.1679C>G (p.Pro560Arg)
c.1535C>G (p.Pro512Arg)
c.1394C>G (p.Pro465Arg)
 dbSNP gnomAD v4
14g.73276846G=CA2146520972NUMBc.1688C= (p.Pro563=)
c.1544C= (p.Pro515=)
c.1655C= (p.Pro552=)
c.1103C= (p.Pro368=)
c.1070C= (p.Pro357=)
c.1511C= (p.Pro504=)
c.1217C= (p.Pro406=)
c.1256C= (p.Pro419=)
c.1250C= (p.Pro417=)
c.1646C= (p.Pro549=)
c.1679C= (p.Pro560=)
c.1535C= (p.Pro512=)
c.1394C= (p.Pro465=)
14g.73276846G>TCA390336967NUMBc.1688C>A (p.Pro563His)
c.1544C>A (p.Pro515His)
c.1655C>A (p.Pro552His)
c.1103C>A (p.Pro368His)
c.1070C>A (p.Pro357His)
c.1511C>A (p.Pro504His)
c.1217C>A (p.Pro406His)
c.1256C>A (p.Pro419His)
c.1250C>A (p.Pro417His)
c.1646C>A (p.Pro549His)
c.1679C>A (p.Pro560His)
c.1535C>A (p.Pro512His)
c.1394C>A (p.Pro465His)
14g.73276847G>ACA390336972NUMBc.1687C>T (p.Pro563Ser)
c.1543C>T (p.Pro515Ser)
c.1654C>T (p.Pro552Ser)
c.1102C>T (p.Pro368Ser)
c.1069C>T (p.Pro357Ser)
c.1510C>T (p.Pro504Ser)
c.1216C>T (p.Pro406Ser)
c.1255C>T (p.Pro419Ser)
c.1249C>T (p.Pro417Ser)
c.1645C>T (p.Pro549Ser)
c.1678C>T (p.Pro560Ser)
c.1534C>T (p.Pro512Ser)
c.1393C>T (p.Pro465Ser)
14g.73276847G>CCA390336975NUMBc.1687C>G (p.Pro563Ala)
c.1543C>G (p.Pro515Ala)
c.1654C>G (p.Pro552Ala)
c.1102C>G (p.Pro368Ala)
c.1069C>G (p.Pro357Ala)
c.1510C>G (p.Pro504Ala)
c.1216C>G (p.Pro406Ala)
c.1255C>G (p.Pro419Ala)
c.1249C>G (p.Pro417Ala)
c.1645C>G (p.Pro549Ala)
c.1678C>G (p.Pro560Ala)
c.1534C>G (p.Pro512Ala)
c.1393C>G (p.Pro465Ala)
14g.73276847G=CA2146520973NUMBc.1687C= (p.Pro563=)
c.1543C= (p.Pro515=)
c.1654C= (p.Pro552=)
c.1102C= (p.Pro368=)
c.1069C= (p.Pro357=)
c.1510C= (p.Pro504=)
c.1216C= (p.Pro406=)
c.1255C= (p.Pro419=)
c.1249C= (p.Pro417=)
c.1645C= (p.Pro549=)
c.1678C= (p.Pro560=)
c.1534C= (p.Pro512=)
c.1393C= (p.Pro465=)
14g.73276847G>TCA262630571NUMBc.1687C>A (p.Pro563Thr)
c.1543C>A (p.Pro515Thr)
c.1654C>A (p.Pro552Thr)
c.1102C>A (p.Pro368Thr)
c.1069C>A (p.Pro357Thr)
c.1510C>A (p.Pro504Thr)
c.1216C>A (p.Pro406Thr)
c.1255C>A (p.Pro419Thr)
c.1249C>A (p.Pro417Thr)
c.1645C>A (p.Pro549Thr)
c.1678C>A (p.Pro560Thr)
c.1534C>A (p.Pro512Thr)
c.1393C>A (p.Pro465Thr)
 dbSNP gnomAD v2 gnomAD v4
14g.73276848G>ACA487256776NUMBc.1686C>T (p.Phe562=)
c.1542C>T (p.Phe514=)
c.1653C>T (p.Phe551=)
c.1101C>T (p.Phe367=)
c.1068C>T (p.Phe356=)
c.1509C>T (p.Phe503=)
c.1215C>T (p.Phe405=)
c.1254C>T (p.Phe418=)
c.1248C>T (p.Phe416=)
c.1644C>T (p.Phe548=)
c.1677C>T (p.Phe559=)
c.1533C>T (p.Phe511=)
c.1392C>T (p.Phe464=)
14g.73276848G>CCA390336977NUMBc.1686C>G (p.Phe562Leu)
c.1542C>G (p.Phe514Leu)
c.1653C>G (p.Phe551Leu)
c.1101C>G (p.Phe367Leu)
c.1068C>G (p.Phe356Leu)
c.1509C>G (p.Phe503Leu)
c.1215C>G (p.Phe405Leu)
c.1254C>G (p.Phe418Leu)
c.1248C>G (p.Phe416Leu)
c.1644C>G (p.Phe548Leu)
c.1677C>G (p.Phe559Leu)
c.1533C>G (p.Phe511Leu)
c.1392C>G (p.Phe464Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.73276848G=CA2146520974NUMBc.1686C= (p.Phe562=)
c.1542C= (p.Phe514=)
c.1653C= (p.Phe551=)
c.1101C= (p.Phe367=)
c.1068C= (p.Phe356=)
c.1509C= (p.Phe503=)
c.1215C= (p.Phe405=)
c.1254C= (p.Phe418=)
c.1248C= (p.Phe416=)
c.1644C= (p.Phe548=)
c.1677C= (p.Phe559=)
c.1533C= (p.Phe511=)
c.1392C= (p.Phe464=)
14g.73276848G>TCA390336979NUMBc.1686C>A (p.Phe562Leu)
c.1542C>A (p.Phe514Leu)
c.1653C>A (p.Phe551Leu)
c.1101C>A (p.Phe367Leu)
c.1068C>A (p.Phe356Leu)
c.1509C>A (p.Phe503Leu)
c.1215C>A (p.Phe405Leu)
c.1254C>A (p.Phe418Leu)
c.1248C>A (p.Phe416Leu)
c.1644C>A (p.Phe548Leu)
c.1677C>A (p.Phe559Leu)
c.1533C>A (p.Phe511Leu)
c.1392C>A (p.Phe464Leu)
14g.73276849A>CCA390336984NUMBc.1685T>G (p.Phe562Cys)
c.1541T>G (p.Phe514Cys)
c.1652T>G (p.Phe551Cys)
c.1100T>G (p.Phe367Cys)
c.1067T>G (p.Phe356Cys)
c.1508T>G (p.Phe503Cys)
c.1214T>G (p.Phe405Cys)
c.1253T>G (p.Phe418Cys)
c.1247T>G (p.Phe416Cys)
c.1643T>G (p.Phe548Cys)
c.1676T>G (p.Phe559Cys)
c.1532T>G (p.Phe511Cys)
c.1391T>G (p.Phe464Cys)
14g.73276849A>GCA390336988NUMBc.1685T>C (p.Phe562Ser)
c.1541T>C (p.Phe514Ser)
c.1652T>C (p.Phe551Ser)
c.1100T>C (p.Phe367Ser)
c.1067T>C (p.Phe356Ser)
c.1508T>C (p.Phe503Ser)
c.1214T>C (p.Phe405Ser)
c.1253T>C (p.Phe418Ser)
c.1247T>C (p.Phe416Ser)
c.1643T>C (p.Phe548Ser)
c.1676T>C (p.Phe559Ser)
c.1532T>C (p.Phe511Ser)
c.1391T>C (p.Phe464Ser)
14g.73276849A>TCA390336990NUMBc.1685T>A (p.Phe562Tyr)
c.1541T>A (p.Phe514Tyr)
c.1652T>A (p.Phe551Tyr)
c.1100T>A (p.Phe367Tyr)
c.1067T>A (p.Phe356Tyr)
c.1508T>A (p.Phe503Tyr)
c.1214T>A (p.Phe405Tyr)
c.1253T>A (p.Phe418Tyr)
c.1247T>A (p.Phe416Tyr)
c.1643T>A (p.Phe548Tyr)
c.1676T>A (p.Phe559Tyr)
c.1532T>A (p.Phe511Tyr)
c.1391T>A (p.Phe464Tyr)
14g.73276850A>CCA390336992NUMBc.1684T>G (p.Phe562Val)
c.1540T>G (p.Phe514Val)
c.1651T>G (p.Phe551Val)
c.1099T>G (p.Phe367Val)
c.1066T>G (p.Phe356Val)
c.1507T>G (p.Phe503Val)
c.1213T>G (p.Phe405Val)
c.1252T>G (p.Phe418Val)
c.1246T>G (p.Phe416Val)
c.1642T>G (p.Phe548Val)
c.1675T>G (p.Phe559Val)
c.1531T>G (p.Phe511Val)
c.1390T>G (p.Phe464Val)
14g.73276850A>GCA390336994NUMBc.1684T>C (p.Phe562Leu)
c.1540T>C (p.Phe514Leu)
c.1651T>C (p.Phe551Leu)
c.1099T>C (p.Phe367Leu)
c.1066T>C (p.Phe356Leu)
c.1507T>C (p.Phe503Leu)
c.1213T>C (p.Phe405Leu)
c.1252T>C (p.Phe418Leu)
c.1246T>C (p.Phe416Leu)
c.1642T>C (p.Phe548Leu)
c.1675T>C (p.Phe559Leu)
c.1531T>C (p.Phe511Leu)
c.1390T>C (p.Phe464Leu)
14g.73276850A>TCA390336997NUMBc.1684T>A (p.Phe562Ile)
c.1540T>A (p.Phe514Ile)
c.1651T>A (p.Phe551Ile)
c.1099T>A (p.Phe367Ile)
c.1066T>A (p.Phe356Ile)
c.1507T>A (p.Phe503Ile)
c.1213T>A (p.Phe405Ile)
c.1252T>A (p.Phe418Ile)
c.1246T>A (p.Phe416Ile)
c.1642T>A (p.Phe548Ile)
c.1675T>A (p.Phe559Ile)
c.1531T>A (p.Phe511Ile)
c.1390T>A (p.Phe464Ile)
14g.73276851T>ACA487256784NUMBc.1683A>T (p.Thr561=)
c.1539A>T (p.Thr513=)
c.1650A>T (p.Thr550=)
c.1098A>T (p.Thr366=)
c.1065A>T (p.Thr355=)
c.1506A>T (p.Thr502=)
c.1212A>T (p.Thr404=)
c.1251A>T (p.Thr417=)
c.1245A>T (p.Thr415=)
c.1641A>T (p.Thr547=)
c.1674A>T (p.Thr558=)
c.1530A>T (p.Thr510=)
c.1389A>T (p.Thr463=)
14g.73276851T>CCA487256786NUMBc.1683A>G (p.Thr561=)
c.1539A>G (p.Thr513=)
c.1650A>G (p.Thr550=)
c.1098A>G (p.Thr366=)
c.1065A>G (p.Thr355=)
c.1506A>G (p.Thr502=)
c.1212A>G (p.Thr404=)
c.1251A>G (p.Thr417=)
c.1245A>G (p.Thr415=)
c.1641A>G (p.Thr547=)
c.1674A>G (p.Thr558=)
c.1530A>G (p.Thr510=)
c.1389A>G (p.Thr463=)
14g.73276851T>GCA487256789NUMBc.1683A>C (p.Thr561=)
c.1539A>C (p.Thr513=)
c.1650A>C (p.Thr550=)
c.1098A>C (p.Thr366=)
c.1065A>C (p.Thr355=)
c.1506A>C (p.Thr502=)
c.1212A>C (p.Thr404=)
c.1251A>C (p.Thr417=)
c.1245A>C (p.Thr415=)
c.1641A>C (p.Thr547=)
c.1674A>C (p.Thr558=)
c.1530A>C (p.Thr510=)
c.1389A>C (p.Thr463=)
14g.73276852G>ACA7258668NUMBc.1682C>T (p.Thr561Ile)
c.1538C>T (p.Thr513Ile)
c.1649C>T (p.Thr550Ile)
c.1097C>T (p.Thr366Ile)
c.1064C>T (p.Thr355Ile)
c.1505C>T (p.Thr502Ile)
c.1211C>T (p.Thr404Ile)
c.1250C>T (p.Thr417Ile)
c.1244C>T (p.Thr415Ile)
c.1640C>T (p.Thr547Ile)
c.1673C>T (p.Thr558Ile)
c.1529C>T (p.Thr510Ile)
c.1388C>T (p.Thr463Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.73276852G>CCA390336999NUMBc.1682C>G (p.Thr561Arg)
c.1538C>G (p.Thr513Arg)
c.1649C>G (p.Thr550Arg)
c.1097C>G (p.Thr366Arg)
c.1064C>G (p.Thr355Arg)
c.1505C>G (p.Thr502Arg)
c.1211C>G (p.Thr404Arg)
c.1250C>G (p.Thr417Arg)
c.1244C>G (p.Thr415Arg)
c.1640C>G (p.Thr547Arg)
c.1673C>G (p.Thr558Arg)
c.1529C>G (p.Thr510Arg)
c.1388C>G (p.Thr463Arg)
14g.73276852G=CA2146520975NUMBc.1682C= (p.Thr561=)
c.1538C= (p.Thr513=)
c.1649C= (p.Thr550=)
c.1097C= (p.Thr366=)
c.1064C= (p.Thr355=)
c.1505C= (p.Thr502=)
c.1211C= (p.Thr404=)
c.1250C= (p.Thr417=)
c.1244C= (p.Thr415=)
c.1640C= (p.Thr547=)
c.1673C= (p.Thr558=)
c.1529C= (p.Thr510=)
c.1388C= (p.Thr463=)
14g.73276852G>TCA390337003NUMBc.1682C>A (p.Thr561Lys)
c.1538C>A (p.Thr513Lys)
c.1649C>A (p.Thr550Lys)
c.1097C>A (p.Thr366Lys)
c.1064C>A (p.Thr355Lys)
c.1505C>A (p.Thr502Lys)
c.1211C>A (p.Thr404Lys)
c.1250C>A (p.Thr417Lys)
c.1244C>A (p.Thr415Lys)
c.1640C>A (p.Thr547Lys)
c.1673C>A (p.Thr558Lys)
c.1529C>A (p.Thr510Lys)
c.1388C>A (p.Thr463Lys)
14g.73276852dupCA2625566659NUMBc.1682dup (p.Phe562IlefsTer16)
c.1538dup (p.Phe514IlefsTer16)
c.1649dup (p.Phe551IlefsTer16)
c.1097dup (p.Phe367IlefsTer16)
c.1064dup (p.Phe356IlefsTer16)
c.1505dup (p.Phe503IlefsTer16)
c.1211dup (p.Phe405IlefsTer16)
c.1250dup (p.Phe418IlefsTer16)
c.1244dup (p.Phe416IlefsTer16)
c.1640dup (p.Phe548IlefsTer16)
c.1673dup (p.Phe559IlefsTer16)
c.1529dup (p.Phe511IlefsTer16)
c.1388dup (p.Phe464IlefsTer16)
 gnomAD v4

Number of alleles fetched