| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.73276747_73276792dup | CA2625566421 | NUMB | c.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 |
| 14 | g.73276750C>A | CA390336337 | NUMB | c.1784G>T (p.Gly595Val) c.1640G>T (p.Gly547Val) c.1751G>T (p.Gly584Val) c.1199G>T (p.Gly400Val) c.1166G>T (p.Gly389Val) c.1607G>T (p.Gly536Val) c.1313G>T (p.Gly438Val) c.1352G>T (p.Gly451Val) c.1346G>T (p.Gly449Val) c.1742G>T (p.Gly581Val) c.1775G>T (p.Gly592Val) c.1631G>T (p.Gly544Val) c.1490G>T (p.Gly497Val) | |
| 14 | g.73276750C= | CA2146520927 | NUMB | c.1784G= (p.Gly595=) c.1640G= (p.Gly547=) c.1751G= (p.Gly584=) c.1199G= (p.Gly400=) c.1166G= (p.Gly389=) c.1607G= (p.Gly536=) c.1313G= (p.Gly438=) c.1352G= (p.Gly451=) c.1346G= (p.Gly449=) c.1742G= (p.Gly581=) c.1775G= (p.Gly592=) c.1631G= (p.Gly544=) c.1490G= (p.Gly497=) | |
| 14 | g.73276750C>G | CA390336341 | NUMB | c.1784G>C (p.Gly595Ala) c.1640G>C (p.Gly547Ala) c.1751G>C (p.Gly584Ala) c.1199G>C (p.Gly400Ala) c.1166G>C (p.Gly389Ala) c.1607G>C (p.Gly536Ala) c.1313G>C (p.Gly438Ala) c.1352G>C (p.Gly451Ala) c.1346G>C (p.Gly449Ala) c.1742G>C (p.Gly581Ala) c.1775G>C (p.Gly592Ala) c.1631G>C (p.Gly544Ala) c.1490G>C (p.Gly497Ala) | |
| 14 | g.73276750C>T | CA7258649 | NUMB | c.1784G>A (p.Gly595Asp) c.1640G>A (p.Gly547Asp) c.1751G>A (p.Gly584Asp) c.1199G>A (p.Gly400Asp) c.1166G>A (p.Gly389Asp) c.1607G>A (p.Gly536Asp) c.1313G>A (p.Gly438Asp) c.1352G>A (p.Gly451Asp) c.1346G>A (p.Gly449Asp) c.1742G>A (p.Gly581Asp) c.1775G>A (p.Gly592Asp) c.1631G>A (p.Gly544Asp) c.1490G>A (p.Gly497Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.73276751del | CA2625566425 | NUMB | c.1784del (p.Gly595AlafsTer29) c.1640del (p.Gly547AlafsTer29) c.1751del (p.Gly584AlafsTer29) c.1199del (p.Gly400AlafsTer29) c.1166del (p.Gly389AlafsTer29) c.1607del (p.Gly536AlafsTer29) c.1313del (p.Gly438AlafsTer29) c.1352del (p.Gly451AlafsTer29) c.1346del (p.Gly449AlafsTer29) c.1742del (p.Gly581AlafsTer29) c.1775del (p.Gly592AlafsTer29) c.1631del (p.Gly544AlafsTer29) c.1490del (p.Gly497AlafsTer29) | gnomAD v4 |
| 14 | g.73276750_73276753delinsCCAT | CA2146520926 | NUMB | c.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=) | |
| 14 | g.73276751C>A | CA390336344 | NUMB | c.1783G>T (p.Gly595Cys) c.1639G>T (p.Gly547Cys) c.1750G>T (p.Gly584Cys) c.1198G>T (p.Gly400Cys) c.1165G>T (p.Gly389Cys) c.1606G>T (p.Gly536Cys) c.1312G>T (p.Gly438Cys) c.1351G>T (p.Gly451Cys) c.1345G>T (p.Gly449Cys) c.1741G>T (p.Gly581Cys) c.1774G>T (p.Gly592Cys) c.1630G>T (p.Gly544Cys) c.1489G>T (p.Gly497Cys) | |
| 14 | g.73276751C>G | CA390336351 | NUMB | c.1783G>C (p.Gly595Arg) c.1639G>C (p.Gly547Arg) c.1750G>C (p.Gly584Arg) c.1198G>C (p.Gly400Arg) c.1165G>C (p.Gly389Arg) c.1606G>C (p.Gly536Arg) c.1312G>C (p.Gly438Arg) c.1351G>C (p.Gly451Arg) c.1345G>C (p.Gly449Arg) c.1741G>C (p.Gly581Arg) c.1774G>C (p.Gly592Arg) c.1630G>C (p.Gly544Arg) c.1489G>C (p.Gly497Arg) | gnomAD v4 |
| 14 | g.73276751C>T | CA390336354 | NUMB | c.1783G>A (p.Gly595Ser) c.1639G>A (p.Gly547Ser) c.1750G>A (p.Gly584Ser) c.1198G>A (p.Gly400Ser) c.1165G>A (p.Gly389Ser) c.1606G>A (p.Gly536Ser) c.1312G>A (p.Gly438Ser) c.1351G>A (p.Gly451Ser) c.1345G>A (p.Gly449Ser) c.1741G>A (p.Gly581Ser) c.1774G>A (p.Gly592Ser) c.1630G>A (p.Gly544Ser) c.1489G>A (p.Gly497Ser) | |
| 14 | g.73276755_73276757del | CA7258650 | NUMB | c.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 |
| 14 | g.73276752A= | CA2146520928 | NUMB | c.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=) | |
| 14 | g.73276752A>C | CA390336358 | NUMB | c.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) | |
| 14 | g.73276752A>G | CA7258651 | NUMB | c.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 |
| 14 | g.73276752A>T | CA390336363 | NUMB | c.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) | |
| 14 | g.73276753T>A | CA390336375 | NUMB | c.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 |
| 14 | g.73276753T>C | CA390336380 | NUMB | c.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) | |
| 14 | g.73276753T>G | CA390336372 | NUMB | c.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) | |
| 14 | g.73276754C>A | CA390336384 | NUMB | c.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) | |
| 14 | g.73276754C>G | CA390336385 | NUMB | c.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) | |
| 14 | g.73276754C>T | CA390336387 | NUMB | c.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) | |
| 14 | g.73276754_73276755insGAG | CA964637043 | NUMB | c.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 |
| 14 | g.73276755A= | CA2146520929 | NUMB | c.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=) | |
| 14 | g.73276755A>C | CA390336389 | NUMB | c.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) | |
| 14 | g.73276755A>G | CA262630532 | NUMB | c.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 |
| 14 | g.73276755A>T | CA390336391 | NUMB | c.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) | |
| 14 | g.73276756T>A | CA390336404 | NUMB | c.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) | |
| 14 | g.73276756T>C | CA390336399 | NUMB | c.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) | |
| 14 | g.73276756T>G | CA390336396 | NUMB | c.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 |
| 14 | g.73276757C>A | CA390336410 | NUMB | c.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 |
| 14 | g.73276757C= | CA2146520930 | NUMB | c.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=) | |
| 14 | g.73276757C>G | CA390336412 | NUMB | c.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) | |
| 14 | g.73276757C>T | CA390336413 | NUMB | c.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) | |
| 14 | g.73276758T>A | CA487257643 | NUMB | c.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 |
| 14 | g.73276758T>C | CA487257645 | NUMB | c.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=) | |
| 14 | g.73276758T>G | CA487257646 | NUMB | c.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 |
| 14 | g.73276759A= | CA2146520931 | NUMB | c.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=) | |
| 14 | g.73276759A>C | CA390336417 | NUMB | c.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 |
| 14 | g.73276759A>G | CA390336419 | NUMB | c.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 |
| 14 | g.73276759A>T | CA390336423 | NUMB | c.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) | |
| 14 | g.73276760C>A | CA390336426 | NUMB | c.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 |
| 14 | g.73276760C= | CA2146520932 | NUMB | c.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=) | |
| 14 | g.73276760C>G | CA390336434 | NUMB | c.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) | |
| 14 | g.73276760C>T | CA390336431 | NUMB | c.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 |
| 14 | g.73276761A>C | CA487257653 | NUMB | c.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=) | |
| 14 | g.73276761A>G | CA487257658 | NUMB | c.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=) | |
| 14 | g.73276761A>T | CA487257654 | NUMB | c.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=) | |
| 14 | g.73276761_73276762delinsAC | CA2146520933 | NUMB | c.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=) | |
| 14 | g.73276762C>A | CA390336444 | NUMB | c.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) | |
| 14 | g.73276762C= | CA2146520934 | NUMB | c.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=) |