Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56836616A= | CA2224333793 | NUP93 | c.1798A= (p.Lys600=) c.1429A= (p.Lys477=) | |
16 | g.56836616A>C | CA395992878 | NUP93 | c.1798A>C (p.Lys600Gln) c.1429A>C (p.Lys477Gln) | |
16 | g.56836616A>G | CA395992880 | NUP93 | c.1798A>G (p.Lys600Glu) c.1429A>G (p.Lys477Glu) | dbSNP |
16 | g.56836616A>T | CA395992882 | NUP93 | c.1798A>T (p.Lys600Ter) c.1429A>T (p.Lys477Ter) | gnomAD v4 |
16 | g.56836617A>C | CA395992885 | NUP93 | c.1799A>C (p.Lys600Thr) c.1430A>C (p.Lys477Thr) | |
16 | g.56836617A>G | CA395992884 | NUP93 | c.1799A>G (p.Lys600Arg) c.1430A>G (p.Lys477Arg) | |
16 | g.56836617A>T | CA395992883 | NUP93 | c.1799A>T (p.Lys600Met) c.1430A>T (p.Lys477Met) | |
16 | g.56836618G>A | CA495602452 | NUP93 | c.1800G>A (p.Lys600=) c.1431G>A (p.Lys477=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56836618G>C | CA395992886 | NUP93 | c.1800G>C (p.Lys600Asn) c.1431G>C (p.Lys477Asn) | |
16 | g.56836618G= | CA2224333794 | NUP93 | c.1800G= (p.Lys600=) c.1431G= (p.Lys477=) | |
16 | g.56836618G>T | CA395992888 | NUP93 | c.1800G>T (p.Lys600Asn) c.1431G>T (p.Lys477Asn) | |
16 | g.56836619T>A | CA395992890 | NUP93 | c.1801T>A (p.Phe601Ile) c.1432T>A (p.Phe478Ile) | |
16 | g.56836619T>C | CA395992892 | NUP93 | c.1801T>C (p.Phe601Leu) c.1432T>C (p.Phe478Leu) | |
16 | g.56836619T>G | CA395992893 | NUP93 | c.1801T>G (p.Phe601Val) c.1432T>G (p.Phe478Val) | |
16 | g.56836620T>A | CA395992894 | NUP93 | c.1802T>A (p.Phe601Tyr) c.1433T>A (p.Phe478Tyr) | |
16 | g.56836620T>C | CA395992896 | NUP93 | c.1802T>C (p.Phe601Ser) c.1433T>C (p.Phe478Ser) | |
16 | g.56836620T>G | CA395992898 | NUP93 | c.1802T>G (p.Phe601Cys) c.1433T>G (p.Phe478Cys) | |
16 | g.56836621T>A | CA395992900 | NUP93 | c.1803T>A (p.Phe601Leu) c.1434T>A (p.Phe478Leu) | |
16 | g.56836621T>C | CA495602468 | NUP93 | c.1803T>C (p.Phe601=) c.1434T>C (p.Phe478=) | gnomAD v4 |
16 | g.56836621T>G | CA395992901 | NUP93 | c.1803T>G (p.Phe601Leu) c.1434T>G (p.Phe478Leu) | |
16 | g.56836622A= | CA2224333795 | NUP93 | c.1804A= (p.Thr602=) c.1435A= (p.Thr479=) | |
16 | g.56836622A>C | CA395992904 | NUP93 | c.1804A>C (p.Thr602Pro) c.1435A>C (p.Thr479Pro) | |
16 | g.56836622A>G | CA395992905 | NUP93 | c.1804A>G (p.Thr602Ala) c.1435A>G (p.Thr479Ala) | gnomAD v4 |
16 | g.56836622A>T | CA8068566 | NUP93 | c.1804A>T (p.Thr602Ser) c.1435A>T (p.Thr479Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56836623C>A | CA395992910 | NUP93 | c.1805C>A (p.Thr602Asn) c.1436C>A (p.Thr479Asn) | |
16 | g.56836623C>G | CA395992911 | NUP93 | c.1805C>G (p.Thr602Ser) c.1436C>G (p.Thr479Ser) | |
16 | g.56836623C>T | CA395992908 | NUP93 | c.1805C>T (p.Thr602Ile) c.1436C>T (p.Thr479Ile) | gnomAD v4 |
16 | g.56836624T>A | CA495602478 | NUP93 | c.1806T>A (p.Thr602=) c.1437T>A (p.Thr479=) | |
16 | g.56836624T>C | CA495602479 | NUP93 | c.1806T>C (p.Thr602=) c.1437T>C (p.Thr479=) | |
16 | g.56836624T>G | CA495602480 | NUP93 | c.1806T>G (p.Thr602=) c.1437T>G (p.Thr479=) | |
16 | g.56836625A= | CA2224333796 | NUP93 | c.1807A= (p.Ser603=) c.1438A= (p.Ser480=) c.1A= (p.Ser1=) | |
16 | g.56836625A>C | CA395992913 | NUP93 | c.1807A>C (p.Ser603Arg) c.1438A>C (p.Ser480Arg) c.1A>C (p.Ser1Arg) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56836625A>G | CA395992915 | NUP93 | c.1807A>G (p.Ser603Gly) c.1438A>G (p.Ser480Gly) c.1A>G (p.Ser1Gly) | |
16 | g.56836625A>T | CA395992917 | NUP93 | c.1807A>T (p.Ser603Cys) c.1438A>T (p.Ser480Cys) c.1A>T (p.Ser1Cys) | |
16 | g.56836626G>A | CA395992918 | NUP93 | c.1808G>A (p.Ser603Asn) c.1439G>A (p.Ser480Asn) c.2G>A (p.Ser1Asn) | |
16 | g.56836626G>C | CA395992920 | NUP93 | c.1808G>C (p.Ser603Thr) c.1439G>C (p.Ser480Thr) c.2G>C (p.Ser1Thr) | |
16 | g.56836626G>T | CA395992921 | NUP93 | c.1808G>T (p.Ser603Ile) c.1439G>T (p.Ser480Ile) c.2G>T (p.Ser1Ile) | |
16 | g.56836627del | CA2633367362 | NUP93 | c.1809del (p.Ser603ArgfsTer?) c.1440del (p.Ser480ArgfsTer?) c.3del (p.Ser1ArgfsTer?) | gnomAD v4 |
16 | g.56836627T>A | CA395992923 | NUP93 | c.1809T>A (p.Ser603Arg) c.1440T>A (p.Ser480Arg) c.3T>A (p.Ser1Arg) | gnomAD v4 |
16 | g.56836627T>C | CA495602481 | NUP93 | c.1809T>C (p.Ser603=) c.1440T>C (p.Ser480=) c.3T>C (p.Ser1=) | |
16 | g.56836627T>G | CA395992924 | NUP93 | c.1809T>G (p.Ser603Arg) c.1440T>G (p.Ser480Arg) c.3T>G (p.Ser1Arg) | |
16 | g.56836628G>A | CA395992926 | NUP93 | c.1810G>A (p.Asp604Asn) c.1441G>A (p.Asp481Asn) c.4G>A (p.Asp2Asn) | |
16 | g.56836628G>C | CA395992928 | NUP93 | c.1810G>C (p.Asp604His) c.1441G>C (p.Asp481His) c.4G>C (p.Asp2His) | |
16 | g.56836628G>T | CA395992929 | NUP93 | c.1810G>T (p.Asp604Tyr) c.1441G>T (p.Asp481Tyr) c.4G>T (p.Asp2Tyr) | |
16 | g.56836628_56836630delinsGAC | CA2224333797 | NUP93 | c.1810_1812delinsGAC (p.Asp604=) c.1441_1443delinsGAC (p.Asp481=) c.4_6delinsGAC (p.Asp2=) | |
16 | g.56836629A>C | CA395992930 | NUP93 | c.1811A>C (p.Asp604Ala) c.1442A>C (p.Asp481Ala) c.5A>C (p.Asp2Ala) | |
16 | g.56836629A>G | CA395992931 | NUP93 | c.1811A>G (p.Asp604Gly) c.1442A>G (p.Asp481Gly) c.5A>G (p.Asp2Gly) | gnomAD v4 |
16 | g.56836629A>T | CA395992933 | NUP93 | c.1811A>T (p.Asp604Val) c.1442A>T (p.Asp481Val) c.5A>T (p.Asp2Val) | |
16 | g.56836632_56836633del | CA622339520 | NUP93 | c.1814_1815del (p.Thr605LysfsTer14) c.1445_1446del (p.Thr482LysfsTer14) c.8_9del (p.Thr3LysfsTer14) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56836630C>A | CA395992938 | NUP93 | c.1812C>A (p.Asp604Glu) c.1443C>A (p.Asp481Glu) c.6C>A (p.Asp2Glu) | |
16 | g.56836630C>G | CA395992936 | NUP93 | c.1812C>G (p.Asp604Glu) c.1443C>G (p.Asp481Glu) c.6C>G (p.Asp2Glu) | |
16 | g.56836630C>T | CA495602483 | NUP93 | c.1812C>T (p.Asp604=) c.1443C>T (p.Asp481=) c.6C>T (p.Asp2=) | |
16 | g.56836631A>C | CA395992939 | NUP93 | c.1813A>C (p.Thr605Pro) c.1444A>C (p.Thr482Pro) c.7A>C (p.Thr3Pro) | |
16 | g.56836631A>G | CA395992940 | NUP93 | c.1813A>G (p.Thr605Ala) c.1444A>G (p.Thr482Ala) c.7A>G (p.Thr3Ala) | |
16 | g.56836631A>T | CA395992943 | NUP93 | c.1813A>T (p.Thr605Ser) c.1444A>T (p.Thr482Ser) c.7A>T (p.Thr3Ser) | |
16 | g.56836632C>A | CA395992944 | NUP93 | c.1814C>A (p.Thr605Lys) c.1445C>A (p.Thr482Lys) c.8C>A (p.Thr3Lys) | |
16 | g.56836632C>G | CA395992947 | NUP93 | c.1814C>G (p.Thr605Arg) c.1445C>G (p.Thr482Arg) c.8C>G (p.Thr3Arg) | |
16 | g.56836632C>T | CA395992949 | NUP93 | c.1814C>T (p.Thr605Ile) c.1445C>T (p.Thr482Ile) c.8C>T (p.Thr3Ile) | |
16 | g.56836633A>C | CA495602486 | NUP93 | c.1815A>C (p.Thr605=) c.1446A>C (p.Thr482=) c.9A>C (p.Thr3=) | |
16 | g.56836633A>G | CA495602485 | NUP93 | c.1815A>G (p.Thr605=) c.1446A>G (p.Thr482=) c.9A>G (p.Thr3=) | |
16 | g.56836633A>T | CA495602484 | NUP93 | c.1815A>T (p.Thr605=) c.1446A>T (p.Thr482=) c.9A>T (p.Thr3=) | |
16 | g.56836634A= | CA2224333798 | NUP93 | c.1816A= (p.Lys606=) c.1447A= (p.Lys483=) c.10A= (p.Lys4=) | |
16 | g.56836634A>C | CA395992953 | NUP93 | c.1816A>C (p.Lys606Gln) c.1447A>C (p.Lys483Gln) c.10A>C (p.Lys4Gln) | dbSNP gnomAD v4 |
16 | g.56836634A>G | CA281501802 | NUP93 | c.1816A>G (p.Lys606Glu) c.1447A>G (p.Lys483Glu) c.10A>G (p.Lys4Glu) | dbSNP gnomAD v4 |
16 | g.56836634A>T | CA395992951 | NUP93 | c.1816A>T (p.Lys606Ter) c.1447A>T (p.Lys483Ter) c.10A>T (p.Lys4Ter) | |
16 | g.56836635A>C | CA395992955 | NUP93 | c.1817A>C (p.Lys606Thr) c.1448A>C (p.Lys483Thr) c.11A>C (p.Lys4Thr) | |
16 | g.56836635A>G | CA395992956 | NUP93 | c.1817A>G (p.Lys606Arg) c.1448A>G (p.Lys483Arg) c.11A>G (p.Lys4Arg) | |
16 | g.56836635A>T | CA395992958 | NUP93 | c.1817A>T (p.Lys606Met) c.1448A>T (p.Lys483Met) c.11A>T (p.Lys4Met) | COSMIC |
16 | g.56836636G>A | CA495602487 | NUP93 | c.1818G>A (p.Lys606=) c.1449G>A (p.Lys483=) c.12G>A (p.Lys4=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56836636G>C | CA395992960 | NUP93 | c.1818G>C (p.Lys606Asn) c.1449G>C (p.Lys483Asn) c.12G>C (p.Lys4Asn) | |
16 | g.56836636G= | CA2224333799 | NUP93 | c.1818G= (p.Lys606=) c.1449G= (p.Lys483=) c.12G= (p.Lys4=) | |
16 | g.56836636G>T | CA395992963 | NUP93 | c.1818G>T (p.Lys606Asn) c.1449G>T (p.Lys483Asn) c.12G>T (p.Lys4Asn) | |
16 | g.56836637C>A | CA395992970 | NUP93 | c.1819C>A (p.Pro607Thr) c.1450C>A (p.Pro484Thr) c.13C>A (p.Pro5Thr) | |
16 | g.56836637C>G | CA395992966 | NUP93 | c.1819C>G (p.Pro607Ala) c.1450C>G (p.Pro484Ala) c.13C>G (p.Pro5Ala) | |
16 | g.56836637C>T | CA395992968 | NUP93 | c.1819C>T (p.Pro607Ser) c.1450C>T (p.Pro484Ser) c.13C>T (p.Pro5Ser) | |
16 | g.56836638C>A | CA395992972 | NUP93 | c.1820C>A (p.Pro607His) c.1451C>A (p.Pro484His) c.14C>A (p.Pro5His) | |
16 | g.56836638C>G | CA395992978 | NUP93 | c.1820C>G (p.Pro607Arg) c.1451C>G (p.Pro484Arg) c.14C>G (p.Pro5Arg) | gnomAD v4 |
16 | g.56836638C>T | CA395992975 | NUP93 | c.1820C>T (p.Pro607Leu) c.1451C>T (p.Pro484Leu) c.14C>T (p.Pro5Leu) | |
16 | g.56836638_56836641delinsCTAT | CA2224333800 | NUP93 | c.1820_1823delinsCTAT (p.Pro607=) c.1451_1454delinsCTAT (p.Pro484=) c.14_17delinsCTAT (p.Pro5=) | |
16 | g.56836639T>A | CA495602488 | NUP93 | c.1821T>A (p.Pro607=) c.1452T>A (p.Pro484=) c.15T>A (p.Pro5=) | |
16 | g.56836639T>C | CA495602489 | NUP93 | c.1821T>C (p.Pro607=) c.1452T>C (p.Pro484=) c.15T>C (p.Pro5=) | |
16 | g.56836639T>G | CA495602490 | NUP93 | c.1821T>G (p.Pro607=) c.1452T>G (p.Pro484=) c.15T>G (p.Pro5=) | |
16 | g.56836642_56836644del | CA977661301 | NUP93 | c.1824_1826del (p.Ile609del) c.1455_1457del (p.Ile486del) c.18_20del (p.Ile7del) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56836640A>C | CA395992981 | NUP93 | c.1822A>C (p.Ile608Leu) c.1453A>C (p.Ile485Leu) c.16A>C (p.Ile6Leu) | |
16 | g.56836640A>G | CA395992982 | NUP93 | c.1822A>G (p.Ile608Val) c.1453A>G (p.Ile485Val) c.16A>G (p.Ile6Val) | dbSNP gnomAD v4 |
16 | g.56836640A>T | CA395992985 | NUP93 | c.1822A>T (p.Ile608Phe) c.1453A>T (p.Ile485Phe) c.16A>T (p.Ile6Phe) | |
16 | g.56836641T>A | CA395992987 | NUP93 | c.1823T>A (p.Ile608Asn) c.1454T>A (p.Ile485Asn) c.17T>A (p.Ile6Asn) | |
16 | g.56836641T>C | CA395992990 | NUP93 | c.1823T>C (p.Ile608Thr) c.1454T>C (p.Ile485Thr) c.17T>C (p.Ile6Thr) | |
16 | g.56836641T>G | CA395992992 | NUP93 | c.1823T>G (p.Ile608Ser) c.1454T>G (p.Ile485Ser) c.17T>G (p.Ile6Ser) | dbSNP |
16 | g.56836641T= | CA2224333801 | NUP93 | c.1823T= (p.Ile608=) c.1454T= (p.Ile485=) c.17T= (p.Ile6=) | |
16 | g.56836642T>A | CA495602491 | NUP93 | c.1824T>A (p.Ile608=) c.1455T>A (p.Ile485=) c.18T>A (p.Ile6=) | dbSNP |
16 | g.56836642T>C | CA495602492 | NUP93 | c.1824T>C (p.Ile608=) c.1455T>C (p.Ile485=) c.18T>C (p.Ile6=) | |
16 | g.56836642T>G | CA395992995 | NUP93 | c.1824T>G (p.Ile608Met) c.1455T>G (p.Ile485Met) c.18T>G (p.Ile6Met) | |
16 | g.56836643A>C | CA395992998 | NUP93 | c.1825A>C (p.Ile609Leu) c.1456A>C (p.Ile486Leu) c.19A>C (p.Ile7Leu) | |
16 | g.56836643A>G | CA395993001 | NUP93 | c.1825A>G (p.Ile609Val) c.1456A>G (p.Ile486Val) c.19A>G (p.Ile7Val) | |
16 | g.56836643A>T | CA395993003 | NUP93 | c.1825A>T (p.Ile609Phe) c.1456A>T (p.Ile486Phe) c.19A>T (p.Ile7Phe) | |
16 | g.56836644T>A | CA395993007 | NUP93 | c.1826T>A (p.Ile609Asn) c.1457T>A (p.Ile486Asn) c.20T>A (p.Ile7Asn) | |
16 | g.56836644T>C | CA8068567 | NUP93 | c.1826T>C (p.Ile609Thr) c.1457T>C (p.Ile486Thr) c.20T>C (p.Ile7Thr) | dbSNP ExAC gnomAD v3 gnomAD v4 |
16 | g.56836644T>G | CA395993011 | NUP93 | c.1826T>G (p.Ile609Ser) c.1457T>G (p.Ile486Ser) c.20T>G (p.Ile7Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56836644T= | CA2224333802 | NUP93 | c.1826T= (p.Ile609=) c.1457T= (p.Ile486=) c.20T= (p.Ile7=) | |
16 | g.56836645C>A | CA495602493 | NUP93 | c.1827C>A (p.Ile609=) c.1458C>A (p.Ile486=) c.21C>A (p.Ile7=) | |
16 | g.56836645C>G | CA395993014 | NUP93 | c.1827C>G (p.Ile609Met) c.1458C>G (p.Ile486Met) c.21C>G (p.Ile7Met) | |
16 | g.56836645C>T | CA495602494 | NUP93 | c.1827C>T (p.Ile609=) c.1458C>T (p.Ile486=) c.21C>T (p.Ile7=) | |
16 | g.56836646A= | CA2224333803 | NUP93 | c.1828A= (p.Asn610=) c.1459A= (p.Asn487=) c.22A= (p.Asn8=) | |
16 | g.56836646A>C | CA8068568 | NUP93 | c.1828A>C (p.Asn610His) c.1459A>C (p.Asn487His) c.22A>C (p.Asn8His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56836646A>G | CA395993019 | NUP93 | c.1828A>G (p.Asn610Asp) c.1459A>G (p.Asn487Asp) c.22A>G (p.Asn8Asp) | |
16 | g.56836646A>T | CA395993026 | NUP93 | c.1828A>T (p.Asn610Tyr) c.1459A>T (p.Asn487Tyr) c.22A>T (p.Asn8Tyr) | |
16 | g.56836647A>C | CA395993031 | NUP93 | c.1829A>C (p.Asn610Thr) c.1460A>C (p.Asn487Thr) c.23A>C (p.Asn8Thr) | |
16 | g.56836647A>G | CA395993035 | NUP93 | c.1829A>G (p.Asn610Ser) c.1460A>G (p.Asn487Ser) c.23A>G (p.Asn8Ser) | |
16 | g.56836647A>T | CA395993038 | NUP93 | c.1829A>T (p.Asn610Ile) c.1460A>T (p.Asn487Ile) c.23A>T (p.Asn8Ile) | |
16 | g.56836648C>A | CA395993040 | NUP93 | c.1830C>A (p.Asn610Lys) c.1461C>A (p.Asn487Lys) c.24C>A (p.Asn8Lys) | |
16 | g.56836648C>G | CA395993046 | NUP93 | c.1830C>G (p.Asn610Lys) c.1461C>G (p.Asn487Lys) c.24C>G (p.Asn8Lys) | |
16 | g.56836648C>T | CA495602495 | NUP93 | c.1830C>T (p.Asn610=) c.1461C>T (p.Asn487=) c.24C>T (p.Asn8=) | |
16 | g.56836649A= | CA2224333804 | NUP93 | c.1831A= (p.Lys611=) c.1462A= (p.Lys488=) c.25A= (p.Lys9=) | |
16 | g.56836649A>C | CA395993050 | NUP93 | c.1831A>C (p.Lys611Gln) c.1462A>C (p.Lys488Gln) c.25A>C (p.Lys9Gln) | |
16 | g.56836649A>G | CA8068569 | NUP93 | c.1831A>G (p.Lys611Glu) c.1462A>G (p.Lys488Glu) c.25A>G (p.Lys9Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56836649A>T | CA395993055 | NUP93 | c.1831A>T (p.Lys611Ter) c.1462A>T (p.Lys488Ter) c.25A>T (p.Lys9Ter) | |
16 | g.56836650A>C | CA395993058 | NUP93 | c.1832A>C (p.Lys611Thr) c.1463A>C (p.Lys488Thr) c.26A>C (p.Lys9Thr) | |
16 | g.56836650A>G | CA395993061 | NUP93 | c.1832A>G (p.Lys611Arg) c.1463A>G (p.Lys488Arg) c.26A>G (p.Lys9Arg) | |
16 | g.56836650A>T | CA395993063 | NUP93 | c.1832A>T (p.Lys611Ile) c.1463A>T (p.Lys488Ile) c.26A>T (p.Lys9Ile) | |
16 | g.56836651A= | CA2224333805 | NUP93 | c.1833A= (p.Lys611=) c.1464A= (p.Lys488=) c.27A= (p.Lys9=) | |
16 | g.56836651A>C | CA395993072 | NUP93 | c.1833A>C (p.Lys611Asn) c.1464A>C (p.Lys488Asn) c.27A>C (p.Lys9Asn) | |
16 | g.56836651A>G | CA281501808 | NUP93 | c.1833A>G (p.Lys611=) c.1464A>G (p.Lys488=) c.27A>G (p.Lys9=) | dbSNP gnomAD v4 |
16 | g.56836651A>T | CA395993069 | NUP93 | c.1833A>T (p.Lys611Asn) c.1464A>T (p.Lys488Asn) c.27A>T (p.Lys9Asn) | |
16 | g.56836652G>A | CA395993074 | NUP93 | c.1834G>A (p.Val612Ile) c.1465G>A (p.Val489Ile) c.28G>A (p.Val10Ile) | gnomAD v4 |
16 | g.56836652G>C | CA395993076 | NUP93 | c.1834G>C (p.Val612Leu) c.1465G>C (p.Val489Leu) c.28G>C (p.Val10Leu) | |
16 | g.56836652G>T | CA395993078 | NUP93 | c.1834G>T (p.Val612Phe) c.1465G>T (p.Val489Phe) c.28G>T (p.Val10Phe) | |
16 | g.56836653T>A | CA395993081 | NUP93 | c.1835T>A (p.Val612Asp) c.1466T>A (p.Val489Asp) c.29T>A (p.Val10Asp) | |
16 | g.56836653T>C | CA395993083 | NUP93 | c.1835T>C (p.Val612Ala) c.1466T>C (p.Val489Ala) c.29T>C (p.Val10Ala) | dbSNP gnomAD v4 |
16 | g.56836653T>G | CA395993085 | NUP93 | c.1835T>G (p.Val612Gly) c.1466T>G (p.Val489Gly) c.29T>G (p.Val10Gly) | |
16 | g.56836653T= | CA2224333806 | NUP93 | c.1835T= (p.Val612=) c.1466T= (p.Val489=) c.29T= (p.Val10=) | |
16 | g.56836654T>A | CA495602496 | NUP93 | c.1836T>A (p.Val612=) c.1467T>A (p.Val489=) c.30T>A (p.Val10=) | |
16 | g.56836654T>C | CA495602497 | NUP93 | c.1836T>C (p.Val612=) c.1467T>C (p.Val489=) c.30T>C (p.Val10=) | |
16 | g.56836654T>G | CA495602498 | NUP93 | c.1836T>G (p.Val612=) c.1467T>G (p.Val489=) c.30T>G (p.Val10=) | |
16 | g.56836655G>A | CA395993093 | NUP93 | c.1837G>A (p.Ala613Thr) c.1468G>A (p.Ala490Thr) c.31G>A (p.Ala11Thr) | |
16 | g.56836655G>C | CA395993090 | NUP93 | c.1837G>C (p.Ala613Pro) c.1468G>C (p.Ala490Pro) c.31G>C (p.Ala11Pro) | ClinVar dbSNP gnomAD v4 |
16 | g.56836655G= | CA2224333807 | NUP93 | c.1837G= (p.Ala613=) c.1468G= (p.Ala490=) c.31G= (p.Ala11=) | |
16 | g.56836655G>T | CA395993088 | NUP93 | c.1837G>T (p.Ala613Ser) c.1468G>T (p.Ala490Ser) c.31G>T (p.Ala11Ser) | |
16 | g.56836656C>A | CA395993097 | NUP93 | c.1838C>A (p.Ala613Asp) c.1469C>A (p.Ala490Asp) c.32C>A (p.Ala11Asp) | |
16 | g.56836656C>G | CA395993098 | NUP93 | c.1838C>G (p.Ala613Gly) c.1469C>G (p.Ala490Gly) c.32C>G (p.Ala11Gly) | |
16 | g.56836656C>T | CA395993101 | NUP93 | c.1838C>T (p.Ala613Val) c.1469C>T (p.Ala490Val) c.32C>T (p.Ala11Val) | gnomAD v4 |
16 | g.56836657T>A | CA495602499 | NUP93 | c.1839T>A (p.Ala613=) c.1470T>A (p.Ala490=) c.33T>A (p.Ala11=) | |
16 | g.56836657T>C | CA495602500 | NUP93 | c.1839T>C (p.Ala613=) c.1470T>C (p.Ala490=) c.33T>C (p.Ala11=) | |
16 | g.56836657T>G | CA495602501 | NUP93 | c.1839T>G (p.Ala613=) c.1470T>G (p.Ala490=) c.33T>G (p.Ala11=) | |
16 | g.56836658del | CA2633367363 | NUP93 | c.1840del (p.Ser614LeufsTer28) c.1471del (p.Ser491LeufsTer28) c.34del (p.Ser12LeufsTer28) | gnomAD v4 |
16 | g.56836658T>A | CA395993104 | NUP93 | c.1840T>A (p.Ser614Thr) c.1471T>A (p.Ser491Thr) c.34T>A (p.Ser12Thr) | |
16 | g.56836658T>C | CA395993106 | NUP93 | c.1840T>C (p.Ser614Pro) c.1471T>C (p.Ser491Pro) c.34T>C (p.Ser12Pro) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56836658T>G | CA395993109 | NUP93 | c.1840T>G (p.Ser614Ala) c.1471T>G (p.Ser491Ala) c.34T>G (p.Ser12Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56836658T= | CA2224333808 | NUP93 | c.1840T= (p.Ser614=) c.1471T= (p.Ser491=) c.34T= (p.Ser12=) | |
16 | g.56836659C>A | CA395993112 | NUP93 | c.1841C>A (p.Ser614Tyr) c.1472C>A (p.Ser491Tyr) c.35C>A (p.Ser12Tyr) | |
16 | g.56836659C= | CA2224333809 | NUP93 | c.1841C= (p.Ser614=) c.1472C= (p.Ser491=) c.35C= (p.Ser12=) | |
16 | g.56836659C>G | CA281501812 | NUP93 | c.1841C>G (p.Ser614Cys) c.1472C>G (p.Ser491Cys) c.35C>G (p.Ser12Cys) | dbSNP |
16 | g.56836659C>T | CA8068570 | NUP93 | c.1841C>T (p.Ser614Phe) c.1472C>T (p.Ser491Phe) c.35C>T (p.Ser12Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56836660T>A | CA495602502 | NUP93 | c.1842T>A (p.Ser614=) c.1473T>A (p.Ser491=) c.36T>A (p.Ser12=) | |
16 | g.56836660T>C | CA495602503 | NUP93 | c.1842T>C (p.Ser614=) c.1473T>C (p.Ser491=) c.36T>C (p.Ser12=) | dbSNP |
16 | g.56836660T>G | CA495602504 | NUP93 | c.1842T>G (p.Ser614=) c.1473T>G (p.Ser491=) c.36T>G (p.Ser12=) | |
16 | g.56836661G>A | CA395993117 | NUP93 | c.1843G>A (p.Val615Met) c.1474G>A (p.Val492Met) c.37G>A (p.Val13Met) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56836661G>C | CA395993120 | NUP93 | c.1843G>C (p.Val615Leu) c.1474G>C (p.Val492Leu) c.37G>C (p.Val13Leu) | dbSNP |
16 | g.56836661G= | CA2224333810 | NUP93 | c.1843G= (p.Val615=) c.1474G= (p.Val492=) c.37G= (p.Val13=) | |
16 | g.56836661G>T | CA395993122 | NUP93 | c.1843G>T (p.Val615Leu) c.1474G>T (p.Val492Leu) c.37G>T (p.Val13Leu) | |
16 | g.56836662T>A | CA395993124 | NUP93 | c.1844T>A (p.Val615Glu) c.1475T>A (p.Val492Glu) c.38T>A (p.Val13Glu) | |
16 | g.56836662T>C | CA395993126 | NUP93 | c.1844T>C (p.Val615Ala) c.1475T>C (p.Val492Ala) c.38T>C (p.Val13Ala) | |
16 | g.56836662T>G | CA395993128 | NUP93 | c.1844T>G (p.Val615Gly) c.1475T>G (p.Val492Gly) c.38T>G (p.Val13Gly) | |
16 | g.56836663G>A | CA495602507 | NUP93 | c.1845G>A (p.Val615=) c.1476G>A (p.Val492=) c.39G>A (p.Val13=) | |
16 | g.56836663G>C | CA495602506 | NUP93 | c.1845G>C (p.Val615=) c.1476G>C (p.Val492=) c.39G>C (p.Val13=) | |
16 | g.56836663G>T | CA495602505 | NUP93 | c.1845G>T (p.Val615=) c.1476G>T (p.Val492=) c.39G>T (p.Val13=) | |
16 | g.56836664G>A | CA395993131 | NUP93 | c.1846G>A (p.Ala616Thr) c.1477G>A (p.Ala493Thr) c.40G>A (p.Ala14Thr) | |
16 | g.56836664G>C | CA395993133 | NUP93 | c.1846G>C (p.Ala616Pro) c.1477G>C (p.Ala493Pro) c.40G>C (p.Ala14Pro) | |
16 | g.56836664G>T | CA395993136 | NUP93 | c.1846G>T (p.Ala616Ser) c.1477G>T (p.Ala493Ser) c.40G>T (p.Ala14Ser) | |
16 | g.56836665C>A | CA395993138 | NUP93 | c.1847C>A (p.Ala616Glu) c.1478C>A (p.Ala493Glu) c.41C>A (p.Ala14Glu) | |
16 | g.56836665C>G | CA395993139 | NUP93 | c.1847C>G (p.Ala616Gly) c.1478C>G (p.Ala493Gly) c.41C>G (p.Ala14Gly) | |
16 | g.56836665C>T | CA395993142 | NUP93 | c.1847C>T (p.Ala616Val) c.1478C>T (p.Ala493Val) c.41C>T (p.Ala14Val) | |
16 | g.56836666A>C | CA495602510 | NUP93 | c.1848A>C (p.Ala616=) c.1479A>C (p.Ala493=) c.42A>C (p.Ala14=) | |
16 | g.56836666A>G | CA495602509 | NUP93 | c.1848A>G (p.Ala616=) c.1479A>G (p.Ala493=) c.42A>G (p.Ala14=) | |
16 | g.56836666A>T | CA495602508 | NUP93 | c.1848A>T (p.Ala616=) c.1479A>T (p.Ala493=) c.42A>T (p.Ala14=) | |
16 | g.56836667G>A | CA395993144 | NUP93 | c.1849G>A (p.Glu617Lys) c.1480G>A (p.Glu494Lys) c.43G>A (p.Glu15Lys) | |
16 | g.56836667G>C | CA395993148 | NUP93 | c.1849G>C (p.Glu617Gln) c.1480G>C (p.Glu494Gln) c.43G>C (p.Glu15Gln) | |
16 | g.56836667G>T | CA395993146 | NUP93 | c.1849G>T (p.Glu617Ter) c.1480G>T (p.Glu494Ter) c.43G>T (p.Glu15Ter) | |
16 | g.56836668A>C | CA395993150 | NUP93 | c.1850A>C (p.Glu617Ala) c.1481A>C (p.Glu494Ala) c.44A>C (p.Glu15Ala) | |
16 | g.56836668A>G | CA395993153 | NUP93 | c.1850A>G (p.Glu617Gly) c.1481A>G (p.Glu494Gly) c.44A>G (p.Glu15Gly) | |
16 | g.56836668A>T | CA395993152 | NUP93 | c.1850A>T (p.Glu617Val) c.1481A>T (p.Glu494Val) c.44A>T (p.Glu15Val) | |
16 | g.56836669A>C | CA395993155 | NUP93 | c.1851A>C (p.Glu617Asp) c.1482A>C (p.Glu494Asp) c.45A>C (p.Glu15Asp) | |
16 | g.56836669A>G | CA495602511 | NUP93 | c.1851A>G (p.Glu617=) c.1482A>G (p.Glu494=) c.45A>G (p.Glu15=) | |
16 | g.56836669A>T | CA395993157 | NUP93 | c.1851A>T (p.Glu617Asp) c.1482A>T (p.Glu494Asp) c.45A>T (p.Glu15Asp) | |
16 | g.56836670A>C | CA395993161 | NUP93 | c.1852A>C (p.Asn618His) c.1483A>C (p.Asn495His) c.46A>C (p.Asn16His) | |
16 | g.56836670A>G | CA395993163 | NUP93 | c.1852A>G (p.Asn618Asp) c.1483A>G (p.Asn495Asp) c.46A>G (p.Asn16Asp) | |
16 | g.56836670A>T | CA395993166 | NUP93 | c.1852A>T (p.Asn618Tyr) c.1483A>T (p.Asn495Tyr) c.46A>T (p.Asn16Tyr) | |
16 | g.56836671A>C | CA395993170 | NUP93 | c.1853A>C (p.Asn618Thr) c.1484A>C (p.Asn495Thr) c.47A>C (p.Asn16Thr) | |
16 | g.56836671A>G | CA395993172 | NUP93 | c.1853A>G (p.Asn618Ser) c.1484A>G (p.Asn495Ser) c.47A>G (p.Asn16Ser) | |
16 | g.56836671A>T | CA395993174 | NUP93 | c.1853A>T (p.Asn618Ile) c.1484A>T (p.Asn495Ile) c.47A>T (p.Asn16Ile) | |
16 | g.56836672T>A | CA395993177 | NUP93 | c.1854T>A (p.Asn618Lys) c.1485T>A (p.Asn495Lys) c.48T>A (p.Asn16Lys) | |
16 | g.56836672T>C | CA495602512 | NUP93 | c.1854T>C (p.Asn618=) c.1485T>C (p.Asn495=) c.48T>C (p.Asn16=) | |
16 | g.56836672T>G | CA395993181 | NUP93 | c.1854T>G (p.Asn618Lys) c.1485T>G (p.Asn495Lys) c.48T>G (p.Asn16Lys) | |
16 | g.56836673A>C | CA395993182 | NUP93 | c.1855A>C (p.Lys619Gln) c.1486A>C (p.Lys496Gln) c.49A>C (p.Lys17Gln) | |
16 | g.56836673A>G | CA395993185 | NUP93 | c.1855A>G (p.Lys619Glu) c.1486A>G (p.Lys496Glu) c.49A>G (p.Lys17Glu) | |
16 | g.56836673A>T | CA395993188 | NUP93 | c.1855A>T (p.Lys619Ter) c.1486A>T (p.Lys496Ter) c.49A>T (p.Lys17Ter) | |
16 | g.56836674A>C | CA395993191 | NUP93 | c.1856A>C (p.Lys619Thr) c.1487A>C (p.Lys496Thr) c.50A>C (p.Lys17Thr) | |
16 | g.56836674A>G | CA395993196 | NUP93 | c.1856A>G (p.Lys619Arg) c.1487A>G (p.Lys496Arg) c.50A>G (p.Lys17Arg) | |
16 | g.56836674A>T | CA395993194 | NUP93 | c.1856A>T (p.Lys619Ile) c.1487A>T (p.Lys496Ile) c.50A>T (p.Lys17Ile) | |
16 | g.56836675A= | CA2224333811 | NUP93 | c.1857A= (p.Lys619=) c.1488A= (p.Lys496=) c.51A= (p.Lys17=) | |
16 | g.56836675A>C | CA395993199 | NUP93 | c.1857A>C (p.Lys619Asn) c.1488A>C (p.Lys496Asn) c.51A>C (p.Lys17Asn) | |
16 | g.56836675A>G | CA281501830 | NUP93 | c.1857A>G (p.Lys619=) c.1488A>G (p.Lys496=) c.51A>G (p.Lys17=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56836675A>T | CA395993201 | NUP93 | c.1857A>T (p.Lys619Asn) c.1488A>T (p.Lys496Asn) c.51A>T (p.Lys17Asn) | |
16 | g.56836676G>A | CA395993204 | NUP93 | c.1858G>A (p.Gly620Arg) c.1489G>A (p.Gly497Arg) c.52G>A (p.Gly18Arg) | |
16 | g.56836676G>C | CA395993205 | NUP93 | c.1858G>C (p.Gly620Arg) c.1489G>C (p.Gly497Arg) c.52G>C (p.Gly18Arg) | |
16 | g.56836676G>T | CA395993206 | NUP93 | c.1858G>T (p.Gly620Ter) c.1489G>T (p.Gly497Ter) c.52G>T (p.Gly18Ter) | |
16 | g.56836677G>A | CA395993207 | NUP93 | c.1859G>A (p.Gly620Glu) c.1490G>A (p.Gly497Glu) c.53G>A (p.Gly18Glu) | |
16 | g.56836677G>C | CA395993208 | NUP93 | c.1859G>C (p.Gly620Ala) c.1490G>C (p.Gly497Ala) c.53G>C (p.Gly18Ala) | |
16 | g.56836677G>T | CA395993210 | NUP93 | c.1859G>T (p.Gly620Val) c.1490G>T (p.Gly497Val) c.53G>T (p.Gly18Val) | |
16 | g.56836678A>C | CA495602513 | NUP93 | c.1860A>C (p.Gly620=) c.1491A>C (p.Gly497=) c.54A>C (p.Gly18=) | |
16 | g.56836678A>G | CA495602514 | NUP93 | c.1860A>G (p.Gly620=) c.1491A>G (p.Gly497=) c.54A>G (p.Gly18=) | |
16 | g.56836678A>T | CA495602515 | NUP93 | c.1860A>T (p.Gly620=) c.1491A>T (p.Gly497=) c.54A>T (p.Gly18=) | |
16 | g.56836679C>A | CA395993211 | NUP93 | c.1861C>A (p.Leu621Met) c.1492C>A (p.Leu498Met) c.55C>A (p.Leu19Met) | |
16 | g.56836679C>G | CA395993213 | NUP93 | c.1861C>G (p.Leu621Val) c.1492C>G (p.Leu498Val) c.55C>G (p.Leu19Val) | |
16 | g.56836679C>T | CA495602516 | NUP93 | c.1861C>T (p.Leu621=) c.1492C>T (p.Leu498=) c.55C>T (p.Leu19=) | gnomAD v4 |
16 | g.56836680T>A | CA395993221 | NUP93 | c.1862T>A (p.Leu621Gln) c.1493T>A (p.Leu498Gln) c.56T>A (p.Leu19Gln) | |
16 | g.56836680T>C | CA395993218 | NUP93 | c.1862T>C (p.Leu621Pro) c.1493T>C (p.Leu498Pro) c.56T>C (p.Leu19Pro) | |
16 | g.56836680T>G | CA395993216 | NUP93 | c.1862T>G (p.Leu621Arg) c.1493T>G (p.Leu498Arg) c.56T>G (p.Leu19Arg) | |
16 | g.56836681G>A | CA495602517 | NUP93 | c.1863G>A (p.Leu621=) c.1494G>A (p.Leu498=) c.57G>A (p.Leu19=) | gnomAD v4 |
16 | g.56836681G>C | CA495602518 | NUP93 | c.1863G>C (p.Leu621=) c.1494G>C (p.Leu498=) c.57G>C (p.Leu19=) | gnomAD v4 |
16 | g.56836681G>T | CA495602519 | NUP93 | c.1863G>T (p.Leu621=) c.1494G>T (p.Leu498=) c.57G>T (p.Leu19=) | |
16 | g.56836682T>A | CA395993224 | NUP93 | c.1864T>A (p.Phe622Ile) c.1495T>A (p.Phe499Ile) c.58T>A (p.Phe20Ile) | |
16 | g.56836682T>C | CA395993226 | NUP93 | c.1864T>C (p.Phe622Leu) c.1495T>C (p.Phe499Leu) c.58T>C (p.Phe20Leu) | |
16 | g.56836682T>G | CA395993228 | NUP93 | c.1864T>G (p.Phe622Val) c.1495T>G (p.Phe499Val) c.58T>G (p.Phe20Val) | |
16 | g.56836683T>A | CA395993230 | NUP93 | c.1865T>A (p.Phe622Tyr) c.1496T>A (p.Phe499Tyr) c.59T>A (p.Phe20Tyr) | |
16 | g.56836683T>C | CA395993232 | NUP93 | c.1865T>C (p.Phe622Ser) c.1496T>C (p.Phe499Ser) c.59T>C (p.Phe20Ser) | dbSNP gnomAD v4 |
16 | g.56836683T>G | CA395993235 | NUP93 | c.1865T>G (p.Phe622Cys) c.1496T>G (p.Phe499Cys) c.59T>G (p.Phe20Cys) | |
16 | g.56836683T= | CA2224333812 | NUP93 | c.1865T= (p.Phe622=) c.1496T= (p.Phe499=) c.59T= (p.Phe20=) | |
16 | g.56836684T>A | CA395993236 | NUP93 | c.1866T>A (p.Phe622Leu) c.1497T>A (p.Phe499Leu) c.60T>A (p.Phe20Leu) | |
16 | g.56836684T>C | CA495602520 | NUP93 | c.1866T>C (p.Phe622=) c.1497T>C (p.Phe499=) c.60T>C (p.Phe20=) | |
16 | g.56836684T>G | CA395993239 | NUP93 | c.1866T>G (p.Phe622Leu) c.1497T>G (p.Phe499Leu) c.60T>G (p.Phe20Leu) | |
16 | g.56836685G>A | CA395993243 | NUP93 | c.1867G>A (p.Glu623Lys) c.1498G>A (p.Glu500Lys) c.61G>A (p.Glu21Lys) | |
16 | g.56836685G>C | CA395993245 | NUP93 | c.1867G>C (p.Glu623Gln) c.1498G>C (p.Glu500Gln) c.61G>C (p.Glu21Gln) | |
16 | g.56836685G>T | CA395993246 | NUP93 | c.1867G>T (p.Glu623Ter) c.1498G>T (p.Glu500Ter) c.61G>T (p.Glu21Ter) | gnomAD v4 |
16 | g.56836686A>C | CA395993249 | NUP93 | c.1868A>C (p.Glu623Ala) c.1499A>C (p.Glu500Ala) c.62A>C (p.Glu21Ala) | |
16 | g.56836686A>G | CA395993251 | NUP93 | c.1868A>G (p.Glu623Gly) c.1499A>G (p.Glu500Gly) c.62A>G (p.Glu21Gly) | |
16 | g.56836686A>T | CA395993255 | NUP93 | c.1868A>T (p.Glu623Val) c.1499A>T (p.Glu500Val) c.62A>T (p.Glu21Val) | |
16 | g.56836687A>C | CA395993258 | NUP93 | c.1869A>C (p.Glu623Asp) c.1500A>C (p.Glu500Asp) c.63A>C (p.Glu21Asp) | |
16 | g.56836687A>G | CA495602521 | NUP93 | c.1869A>G (p.Glu623=) c.1500A>G (p.Glu500=) c.63A>G (p.Glu21=) | |
16 | g.56836687A>T | CA395993259 | NUP93 | c.1869A>T (p.Glu623Asp) c.1500A>T (p.Glu500Asp) c.63A>T (p.Glu21Asp) | |
16 | g.56836688G>A | CA395993261 | NUP93 | c.1870G>A (p.Glu624Lys) c.1501G>A (p.Glu501Lys) c.64G>A (p.Glu22Lys) | gnomAD v4 |
16 | g.56836688G>C | CA395993264 | NUP93 | c.1870G>C (p.Glu624Gln) c.1501G>C (p.Glu501Gln) c.64G>C (p.Glu22Gln) | |
16 | g.56836688G>T | CA395993266 | NUP93 | c.1870G>T (p.Glu624Ter) c.1501G>T (p.Glu501Ter) c.64G>T (p.Glu22Ter) | |
16 | g.56836689A>C | CA395993270 | NUP93 | c.1871A>C (p.Glu624Ala) c.1502A>C (p.Glu501Ala) c.65A>C (p.Glu22Ala) | |
16 | g.56836689A>G | CA395993272 | NUP93 | c.1871A>G (p.Glu624Gly) c.1502A>G (p.Glu501Gly) c.65A>G (p.Glu22Gly) | |
16 | g.56836689A>T | CA395993274 | NUP93 | c.1871A>T (p.Glu624Val) c.1502A>T (p.Glu501Val) c.65A>T (p.Glu22Val) | gnomAD v4 |
16 | g.56836690G>A | CA281501834 | NUP93 | c.1872G>A (p.Glu624=) c.1503G>A (p.Glu501=) c.66G>A (p.Glu22=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56836690G>C | CA395993278 | NUP93 | c.1872G>C (p.Glu624Asp) c.1503G>C (p.Glu501Asp) c.66G>C (p.Glu22Asp) | |
16 | g.56836690G= | CA2224333813 | NUP93 | c.1872G= (p.Glu624=) c.1503G= (p.Glu501=) c.66G= (p.Glu22=) | |
16 | g.56836690G>T | CA395993281 | NUP93 | c.1872G>T (p.Glu624Asp) c.1503G>T (p.Glu501Asp) c.66G>T (p.Glu22Asp) | |
16 | g.56836691G>A | CA395993284 | NUP93 | c.1873G>A (p.Ala625Thr) c.1504G>A (p.Ala502Thr) c.67G>A (p.Ala23Thr) | |
16 | g.56836691G>C | CA395993287 | NUP93 | c.1873G>C (p.Ala625Pro) c.1504G>C (p.Ala502Pro) c.67G>C (p.Ala23Pro) | |
16 | g.56836691G= | CA2224333814 | NUP93 | c.1873G= (p.Ala625=) c.1504G= (p.Ala502=) c.67G= (p.Ala23=) | |
16 | g.56836691G>T | CA8068571 | NUP93 | c.1873G>T (p.Ala625Ser) c.1504G>T (p.Ala502Ser) c.67G>T (p.Ala23Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56836692C>A | CA395993296 | NUP93 | c.1874C>A (p.Ala625Glu) c.1505C>A (p.Ala502Glu) c.68C>A (p.Ala23Glu) | |
16 | g.56836692C>G | CA395993291 | NUP93 | c.1874C>G (p.Ala625Gly) c.1505C>G (p.Ala502Gly) c.68C>G (p.Ala23Gly) | gnomAD v4 |
16 | g.56836692C>T | CA395993294 | NUP93 | c.1874C>T (p.Ala625Val) c.1505C>T (p.Ala502Val) c.68C>T (p.Ala23Val) | |
16 | g.56836693A= | CA2224333815 | NUP93 | c.1875A= (p.Ala625=) c.1506A= (p.Ala502=) c.69A= (p.Ala23=) | |
16 | g.56836693A>C | CA495602522 | NUP93 | c.1875A>C (p.Ala625=) c.1506A>C (p.Ala502=) c.69A>C (p.Ala23=) | |
16 | g.56836693A>G | CA495602523 | NUP93 | c.1875A>G (p.Ala625=) c.1506A>G (p.Ala502=) c.69A>G (p.Ala23=) | dbSNP gnomAD v4 |
16 | g.56836693A>T | CA495602524 | NUP93 | c.1875A>T (p.Ala625=) c.1506A>T (p.Ala502=) c.69A>T (p.Ala23=) | |
16 | g.56836694G>A | CA8068572 | NUP93 | c.1876G>A (p.Ala626Thr) c.1507G>A (p.Ala503Thr) c.70G>A (p.Ala24Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56836694G>C | CA395993304 | NUP93 | c.1876G>C (p.Ala626Pro) c.1507G>C (p.Ala503Pro) c.70G>C (p.Ala24Pro) | |
16 | g.56836694G= | CA2224333816 | NUP93 | c.1876G= (p.Ala626=) c.1507G= (p.Ala503=) c.70G= (p.Ala24=) | |
16 | g.56836694G>T | CA395993301 | NUP93 | c.1876G>T (p.Ala626Ser) c.1507G>T (p.Ala503Ser) c.70G>T (p.Ala24Ser) | |
16 | g.56836695C>A | CA395993307 | NUP93 | c.1877C>A (p.Ala626Glu) c.1508C>A (p.Ala503Glu) c.71C>A (p.Ala24Glu) | |
16 | g.56836695C>G | CA395993311 | NUP93 | c.1877C>G (p.Ala626Gly) c.1508C>G (p.Ala503Gly) c.71C>G (p.Ala24Gly) | |
16 | g.56836695C>T | CA395993310 | NUP93 | c.1877C>T (p.Ala626Val) c.1508C>T (p.Ala503Val) c.71C>T (p.Ala24Val) | |
16 | g.56836696A>C | CA495602525 | NUP93 | c.1878A>C (p.Ala626=) c.1509A>C (p.Ala503=) c.72A>C (p.Ala24=) | |
16 | g.56836696A>G | CA495602526 | NUP93 | c.1878A>G (p.Ala626=) c.1509A>G (p.Ala503=) c.72A>G (p.Ala24=) | |
16 | g.56836696A>T | CA495602527 | NUP93 | c.1878A>T (p.Ala626=) c.1509A>T (p.Ala503=) c.72A>T (p.Ala24=) | |
16 | g.56836696_56836714delinsAAAGCTGTATGACCTTGCC | CA2224333817 | NUP93 | c.1878_1896delinsAAAGCTGTATGACCTTGCC (p.Ala626=) c.1509_1527delinsAAAGCTGTATGACCTTGCC (p.Ala503=) c.72_90delinsAAAGCTGTATGACCTTGCC (p.Ala24=) | |
16 | g.56836697A= | CA2224333818 | NUP93 | c.1879A= (p.Lys627=) c.1510A= (p.Lys504=) c.73A= (p.Lys25=) | |
16 | g.56836697A>C | CA395993315 | NUP93 | c.1879A>C (p.Lys627Gln) c.1510A>C (p.Lys504Gln) c.73A>C (p.Lys25Gln) | dbSNP |
16 | g.56836697A>G | CA395993317 | NUP93 | c.1879A>G (p.Lys627Glu) c.1510A>G (p.Lys504Glu) c.73A>G (p.Lys25Glu) | |
16 | g.56836697A>T | CA395993318 | NUP93 | c.1879A>T (p.Lys627Ter) c.1510A>T (p.Lys504Ter) c.73A>T (p.Lys25Ter) | |
16 | g.56836700_56836717del | CA8068573 | NUP93 | c.1882_1899del (p.Leu628_Lys633del) c.1513_1530del (p.Leu505_Lys510del) c.76_93del (p.Leu26_Lys31del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56836698A>C | CA395993319 | NUP93 | c.1880A>C (p.Lys627Thr) c.1511A>C (p.Lys504Thr) c.74A>C (p.Lys25Thr) | |
16 | g.56836698A>G | CA395993320 | NUP93 | c.1880A>G (p.Lys627Arg) c.1511A>G (p.Lys504Arg) c.74A>G (p.Lys25Arg) | |
16 | g.56836698A>T | CA395993322 | NUP93 | c.1880A>T (p.Lys627Met) c.1511A>T (p.Lys504Met) c.74A>T (p.Lys25Met) | |
16 | g.56836699G>A | CA495602528 | NUP93 | c.1881G>A (p.Lys627=) c.1512G>A (p.Lys504=) c.75G>A (p.Lys25=) | |
16 | g.56836699G>C | CA395993323 | NUP93 | c.1881G>C (p.Lys627Asn) c.1512G>C (p.Lys504Asn) c.75G>C (p.Lys25Asn) | |
16 | g.56836699G>T | CA395993324 | NUP93 | c.1881G>T (p.Lys627Asn) c.1512G>T (p.Lys504Asn) c.75G>T (p.Lys25Asn) | |
16 | g.56836700C>A | CA395993326 | NUP93 | c.1882C>A (p.Leu628Met) c.1513C>A (p.Leu505Met) c.76C>A (p.Leu26Met) | |
16 | g.56836700C>G | CA395993329 | NUP93 | c.1882C>G (p.Leu628Val) c.1513C>G (p.Leu505Val) c.76C>G (p.Leu26Val) | |
16 | g.56836700C>T | CA495602529 | NUP93 | c.1882C>T (p.Leu628=) c.1513C>T (p.Leu505=) c.76C>T (p.Leu26=) | |
16 | g.56836701T>A | CA395993334 | NUP93 | c.1883T>A (p.Leu628Gln) c.1514T>A (p.Leu505Gln) c.77T>A (p.Leu26Gln) | |
16 | g.56836701T>C | CA395993332 | NUP93 | c.1883T>C (p.Leu628Pro) c.1514T>C (p.Leu505Pro) c.77T>C (p.Leu26Pro) | gnomAD v4 |
16 | g.56836701T>G | CA395993331 | NUP93 | c.1883T>G (p.Leu628Arg) c.1514T>G (p.Leu505Arg) c.77T>G (p.Leu26Arg) | |
16 | g.56836702G>A | CA495602530 | NUP93 | c.1884G>A (p.Leu628=) c.1515G>A (p.Leu505=) c.78G>A (p.Leu26=) | |
16 | g.56836702G>C | CA495602531 | NUP93 | c.1884G>C (p.Leu628=) c.1515G>C (p.Leu505=) c.78G>C (p.Leu26=) | |
16 | g.56836702G= | CA2224333819 | NUP93 | c.1884G= (p.Leu628=) c.1515G= (p.Leu505=) c.78G= (p.Leu26=) | |
16 | g.56836702G>T | CA495602532 | NUP93 | c.1884G>T (p.Leu628=) c.1515G>T (p.Leu505=) c.78G>T (p.Leu26=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56836703T>A | CA395993337 | NUP93 | c.1885T>A (p.Tyr629Asn) c.1516T>A (p.Tyr506Asn) c.79T>A (p.Tyr27Asn) | |
16 | g.56836703T>C | CA395993338 | NUP93 | c.1885T>C (p.Tyr629His) c.1516T>C (p.Tyr506His) c.79T>C (p.Tyr27His) | |
16 | g.56836703T>G | CA395993339 | NUP93 | c.1885T>G (p.Tyr629Asp) c.1516T>G (p.Tyr506Asp) c.79T>G (p.Tyr27Asp) | |
16 | g.56836704A= | CA2224333820 | NUP93 | c.1886A= (p.Tyr629=) c.1517A= (p.Tyr506=) c.80A= (p.Tyr27=) | |
16 | g.56836704A>C | CA395993341 | NUP93 | c.1886A>C (p.Tyr629Ser) c.1517A>C (p.Tyr506Ser) c.80A>C (p.Tyr27Ser) | |
16 | g.56836704A>G | CA357852 | NUP93 | c.1886A>G (p.Tyr629Cys) c.1517A>G (p.Tyr506Cys) c.80A>G (p.Tyr27Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56836704A>T | CA395993344 | NUP93 | c.1886A>T (p.Tyr629Phe) c.1517A>T (p.Tyr506Phe) c.80A>T (p.Tyr27Phe) | |
16 | g.56836705T>A | CA395993345 | NUP93 | c.1887T>A (p.Tyr629Ter) c.1518T>A (p.Tyr506Ter) c.81T>A (p.Tyr27Ter) | |
16 | g.56836705T>C | CA495602533 | NUP93 | c.1887T>C (p.Tyr629=) c.1518T>C (p.Tyr506=) c.81T>C (p.Tyr27=) | |
16 | g.56836705T>G | CA395993346 | NUP93 | c.1887T>G (p.Tyr629Ter) c.1518T>G (p.Tyr506Ter) c.81T>G (p.Tyr27Ter) | |
16 | g.56836706G>A | CA395993347 | NUP93 | c.1888G>A (p.Asp630Asn) c.1519G>A (p.Asp507Asn) c.82G>A (p.Asp28Asn) | COSMIC |
16 | g.56836706G>C | CA395993349 | NUP93 | c.1888G>C (p.Asp630His) c.1519G>C (p.Asp507His) c.82G>C (p.Asp28His) | |
16 | g.56836706G= | CA2224333821 | NUP93 | c.1888G= (p.Asp630=) c.1519G= (p.Asp507=) c.82G= (p.Asp28=) | |
16 | g.56836706G>T | CA395993350 | NUP93 | c.1888G>T (p.Asp630Tyr) c.1519G>T (p.Asp507Tyr) c.82G>T (p.Asp28Tyr) | |
16 | g.56836707A= | CA2224333822 | NUP93 | c.1889A= (p.Asp630=) c.1520A= (p.Asp507=) c.83A= (p.Asp28=) | |
16 | g.56836707A>C | CA395993354 | NUP93 | c.1889A>C (p.Asp630Ala) c.1520A>C (p.Asp507Ala) c.83A>C (p.Asp28Ala) | |
16 | g.56836707A>G | CA395993356 | NUP93 | c.1889A>G (p.Asp630Gly) c.1520A>G (p.Asp507Gly) c.83A>G (p.Asp28Gly) | |
16 | g.56836707A>T | CA395993353 | NUP93 | c.1889A>T (p.Asp630Val) c.1520A>T (p.Asp507Val) c.83A>T (p.Asp28Val) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56836707dup | CA8068574 | NUP93 | c.1889dup (p.Asp630GlufsTer7) c.1520dup (p.Asp507GlufsTer7) c.83dup (p.Asp28GlufsTer7) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56836708C>A | CA395993358 | NUP93 | c.1890C>A (p.Asp630Glu) c.1521C>A (p.Asp507Glu) c.84C>A (p.Asp28Glu) | |
16 | g.56836708C= | CA2224333823 | NUP93 | c.1890C= (p.Asp630=) c.1521C= (p.Asp507=) c.84C= (p.Asp28=) | |
16 | g.56836708C>G | CA395993360 | NUP93 | c.1890C>G (p.Asp630Glu) c.1521C>G (p.Asp507Glu) c.84C>G (p.Asp28Glu) | |
16 | g.56836708C>T | CA8068575 | NUP93 | c.1890C>T (p.Asp630=) c.1521C>T (p.Asp507=) c.84C>T (p.Asp28=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56836709C>A | CA395993362 | NUP93 | c.1891C>A (p.Leu631Ile) c.1522C>A (p.Leu508Ile) c.85C>A (p.Leu29Ile) | COSMIC |
16 | g.56836709C>G | CA395993364 | NUP93 | c.1891C>G (p.Leu631Val) c.1522C>G (p.Leu508Val) c.85C>G (p.Leu29Val) | |
16 | g.56836709C>T | CA395993366 | NUP93 | c.1891C>T (p.Leu631Phe) c.1522C>T (p.Leu508Phe) c.85C>T (p.Leu29Phe) | |
16 | g.56836710T>A | CA395993368 | NUP93 | c.1892T>A (p.Leu631His) c.1523T>A (p.Leu508His) c.86T>A (p.Leu29His) | |
16 | g.56836710T>C | CA395993369 | NUP93 | c.1892T>C (p.Leu631Pro) c.1523T>C (p.Leu508Pro) c.86T>C (p.Leu29Pro) | |
16 | g.56836710T>G | CA395993371 | NUP93 | c.1892T>G (p.Leu631Arg) c.1523T>G (p.Leu508Arg) c.86T>G (p.Leu29Arg) | |
16 | g.56836711T>A | CA495602536 | NUP93 | c.1893T>A (p.Leu631=) c.1524T>A (p.Leu508=) c.87T>A (p.Leu29=) | |
16 | g.56836711T>C | CA495602534 | NUP93 | c.1893T>C (p.Leu631=) c.1524T>C (p.Leu508=) c.87T>C (p.Leu29=) | |
16 | g.56836711T>G | CA495602535 | NUP93 | c.1893T>G (p.Leu631=) c.1524T>G (p.Leu508=) c.87T>G (p.Leu29=) | |
16 | g.56836712G>A | CA395993373 | NUP93 | c.1894G>A (p.Ala632Thr) c.1525G>A (p.Ala509Thr) c.88G>A (p.Ala30Thr) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56836712G>C | CA395993377 | NUP93 | c.1894G>C (p.Ala632Pro) c.1525G>C (p.Ala509Pro) c.88G>C (p.Ala30Pro) | |
16 | g.56836712G= | CA2224333824 | NUP93 | c.1894G= (p.Ala632=) c.1525G= (p.Ala509=) c.88G= (p.Ala30=) | |
16 | g.56836712G>T | CA395993379 | NUP93 | c.1894G>T (p.Ala632Ser) c.1525G>T (p.Ala509Ser) c.88G>T (p.Ala30Ser) | |
16 | g.56836713C>A | CA395993382 | NUP93 | c.1895C>A (p.Ala632Asp) c.1526C>A (p.Ala509Asp) c.89C>A (p.Ala30Asp) | gnomAD v4 |
16 | g.56836713C= | CA2224333825 | NUP93 | c.1895C= (p.Ala632=) c.1526C= (p.Ala509=) c.89C= (p.Ala30=) | |
16 | g.56836713C>G | CA395993384 | NUP93 | c.1895C>G (p.Ala632Gly) c.1526C>G (p.Ala509Gly) c.89C>G (p.Ala30Gly) | dbSNP gnomAD v4 |
16 | g.56836713C>T | CA395993383 | NUP93 | c.1895C>T (p.Ala632Val) c.1526C>T (p.Ala509Val) c.89C>T (p.Ala30Val) | gnomAD v4 |
16 | g.56836714C>A | CA495602537 | NUP93 | c.1896C>A (p.Ala632=) c.1527C>A (p.Ala509=) c.90C>A (p.Ala30=) | gnomAD v4 |
16 | g.56836714C>G | CA495602538 | NUP93 | c.1896C>G (p.Ala632=) c.1527C>G (p.Ala509=) c.90C>G (p.Ala30=) | |
16 | g.56836714C>T | CA495602539 | NUP93 | c.1896C>T (p.Ala632=) c.1527C>T (p.Ala509=) c.90C>T (p.Ala30=) | |
16 | g.56836715A= | CA2224333826 | NUP93 | c.1897A= (p.Lys633=) c.1528A= (p.Lys510=) c.91A= (p.Lys31=) | |
16 | g.56836715A>C | CA8068576 | NUP93 | c.1897A>C (p.Lys633Gln) c.1528A>C (p.Lys510Gln) c.91A>C (p.Lys31Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56836715A>G | CA395993387 | NUP93 | c.1897A>G (p.Lys633Glu) c.1528A>G (p.Lys510Glu) c.91A>G (p.Lys31Glu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56836715A>T | CA395993389 | NUP93 | c.1897A>T (p.Lys633Ter) c.1528A>T (p.Lys510Ter) c.91A>T (p.Lys31Ter) | |
16 | g.56836716A= | CA2224333827 | NUP93 | c.1898A= (p.Lys633=) c.1529A= (p.Lys510=) c.92A= (p.Lys31=) | |
16 | g.56836716A>C | CA395993390 | NUP93 | c.1898A>C (p.Lys633Thr) c.1529A>C (p.Lys510Thr) c.92A>C (p.Lys31Thr) | gnomAD v4 |
16 | g.56836716A>G | CA395993392 | NUP93 | c.1898A>G (p.Lys633Arg) c.1529A>G (p.Lys510Arg) c.92A>G (p.Lys31Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56836716A>T | CA395993393 | NUP93 | c.1898A>T (p.Lys633Met) c.1529A>T (p.Lys510Met) c.92A>T (p.Lys31Met) |