Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.17213655_17213856del | CA2581463432 | FLCN,MPRIP | c.1540_*1del (n.[c.1540_*1del;Lys514ProfsTer7]) c.*372+1130_*372+1331del (n.*372+1130_*372+1331del) c.562-3835_562-3634del c.1594_*1del (n.[c.1594_*1del;Lys532ProfsTer7]) c.1592+1130_1592+1331del (n.1592+1130_1592+1331del) c.1318_*1del (n.[c.1318_*1del;Lys440ProfsTer7]) n.1974_2175del | |
17 | g.17213655T>A | CA398529745 | FLCN,MPRIP | c.1740A>T (p.Ter580Cys) c.*372+1330A>T (n.*372+1330A>T) c.562-3835T>A c.1794A>T (p.Ter598Cys) c.1592+1330A>T (n.1592+1330A>T) c.1518A>T (p.Ter506Cys) n.2174A>T | dbSNP |
17 | g.17213655T>C | CA398529746 | FLCN,MPRIP | c.1740A>G (p.Ter580Trp) c.*372+1330A>G (n.*372+1330A>G) c.562-3835T>C c.1794A>G (p.Ter598Trp) c.1592+1330A>G (n.1592+1330A>G) c.1518A>G (p.Ter506Trp) n.2174A>G | |
17 | g.17213655T>G | CA398529747 | FLCN,MPRIP | c.1740A>C (p.Ter580Cys) c.*372+1330A>C (n.*372+1330A>C) c.562-3835T>G c.1794A>C (p.Ter598Cys) c.1592+1330A>C (n.1592+1330A>C) c.1518A>C (p.Ter506Cys) n.2174A>C | dbSNP |
17 | g.17213655T= | CA2250413426 | FLCN,MPRIP | c.1740A= (p.Ter580=) c.*372+1330A= (n.*372+1330A=) c.562-3835T= c.1794A= (p.Ter598=) c.1592+1330A= (n.1592+1330A=) c.1518A= (p.Ter506=) n.2174A= | |
17 | g.17213656C>A | CA398529748 | FLCN,MPRIP | c.1739G>T (p.Ter580Leu) c.*372+1329G>T (n.*372+1329G>T) c.562-3834C>A c.1793G>T (p.Ter598Leu) c.1592+1329G>T (n.1592+1329G>T) c.1517G>T (p.Ter506Leu) n.2173G>T | |
17 | g.17213656C>G | CA398529749 | FLCN,MPRIP | c.1739G>C (p.Ter580Ser) c.*372+1329G>C (n.*372+1329G>C) c.562-3834C>G c.1793G>C (p.Ter598Ser) c.1592+1329G>C (n.1592+1329G>C) c.1517G>C (p.Ter506Ser) n.2173G>C | COSMIC |
17 | g.17213656C>T | CA498162979 | FLCN,MPRIP | c.1739G>A (p.Ter580=) c.*372+1329G>A (n.*372+1329G>A) c.562-3834C>T c.1793G>A (p.Ter598=) c.1592+1329G>A (n.1592+1329G>A) c.1517G>A (p.Ter506=) n.2173G>A | |
17 | g.17213657A>C | CA398529750 | FLCN,MPRIP | c.1738T>G (p.Ter580Gly) c.*372+1328T>G (n.*372+1328T>G) c.562-3833A>C c.1792T>G (p.Ter598Gly) c.1592+1328T>G (n.1592+1328T>G) c.1516T>G (p.Ter506Gly) n.2172T>G | |
17 | g.17213657A>G | CA398529751 | FLCN,MPRIP | c.1738T>C (p.Ter580Arg) c.*372+1328T>C (n.*372+1328T>C) c.562-3833A>G c.1792T>C (p.Ter598Arg) c.1592+1328T>C (n.1592+1328T>C) c.1516T>C (p.Ter506Arg) n.2172T>C | |
17 | g.17213657A>T | CA398529752 | FLCN,MPRIP | c.1738T>A (p.Ter580Arg) c.*372+1328T>A (n.*372+1328T>A) c.562-3833A>T c.1792T>A (p.Ter598Arg) c.1592+1328T>A (n.1592+1328T>A) c.1516T>A (p.Ter506Arg) n.2172T>A | |
17 | g.17213658G>A | CA8415905 | FLCN,MPRIP | c.1737C>T (p.Asn579=) c.*372+1327C>T (n.*372+1327C>T) c.562-3832G>A c.1791C>T (p.Asn597=) c.1592+1327C>T (n.1592+1327C>T) c.1515C>T (p.Asn505=) n.2171C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17213658G>C | CA398529753 | FLCN,MPRIP | c.1737C>G (p.Asn579Lys) c.*372+1327C>G (n.*372+1327C>G) c.562-3832G>C c.1791C>G (p.Asn597Lys) c.1592+1327C>G (n.1592+1327C>G) c.1515C>G (p.Asn505Lys) n.2171C>G | ClinVar dbSNP gnomAD v4 |
17 | g.17213658G= | CA2250413430 | FLCN,MPRIP | c.1737C= (p.Asn579=) c.*372+1327C= (n.*372+1327C=) c.562-3832G= c.1791C= (p.Asn597=) c.1592+1327C= (n.1592+1327C=) c.1515C= (p.Asn505=) n.2171C= | |
17 | g.17213658G>T | CA398529754 | FLCN,MPRIP | c.1737C>A (p.Asn579Lys) c.*372+1327C>A (n.*372+1327C>A) c.562-3832G>T c.1791C>A (p.Asn597Lys) c.1592+1327C>A (n.1592+1327C>A) c.1515C>A (p.Asn505Lys) n.2171C>A | |
17 | g.17213659T>A | CA398529755 | FLCN,MPRIP | c.1736A>T (p.Asn579Ile) c.*372+1326A>T (n.*372+1326A>T) c.562-3831T>A c.1790A>T (p.Asn597Ile) c.1592+1326A>T (n.1592+1326A>T) c.1514A>T (p.Asn505Ile) n.2170A>T | |
17 | g.17213659T>C | CA398529757 | FLCN,MPRIP | c.1736A>G (p.Asn579Ser) c.*372+1326A>G (n.*372+1326A>G) c.562-3831T>C c.1790A>G (p.Asn597Ser) c.1592+1326A>G (n.1592+1326A>G) c.1514A>G (p.Asn505Ser) n.2170A>G | |
17 | g.17213659T>G | CA398529756 | FLCN,MPRIP | c.1736A>C (p.Asn579Thr) c.*372+1326A>C (n.*372+1326A>C) c.562-3831T>G c.1790A>C (p.Asn597Thr) c.1592+1326A>C (n.1592+1326A>C) c.1514A>C (p.Asn505Thr) n.2170A>C | |
17 | g.17213659_17213667delinsTTCCGAGAC | CA2250413436 | FLCN,MPRIP | c.1728_1736delinsGTCTCGGAA (p.Glu576=) c.*372+1318_*372+1326delinsGTCTCGGAA (n.*372+1318_*372+1326delinsGTCTCGGAA) c.562-3831_562-3823delinsTTCCGAGAC c.1782_1790delinsGTCTCGGAA (p.Glu594=) c.1592+1318_1592+1326delinsGTCTCGGAA (n.1592+1318_1592+1326delinsGTCTCGGAA) c.1506_1514delinsGTCTCGGAA (p.Glu502=) n.2162_2170delinsGTCTCGGAA | |
17 | g.17213660T>A | CA398529758 | FLCN,MPRIP | c.1735A>T (p.Asn579Tyr) c.*372+1325A>T (n.*372+1325A>T) c.562-3830T>A c.1789A>T (p.Asn597Tyr) c.1592+1325A>T (n.1592+1325A>T) c.1513A>T (p.Asn505Tyr) n.2169A>T | |
17 | g.17213660T>C | CA398529760 | FLCN,MPRIP | c.1735A>G (p.Asn579Asp) c.*372+1325A>G (n.*372+1325A>G) c.562-3830T>C c.1789A>G (p.Asn597Asp) c.1592+1325A>G (n.1592+1325A>G) c.1513A>G (p.Asn505Asp) n.2169A>G | |
17 | g.17213660T>G | CA398529759 | FLCN,MPRIP | c.1735A>C (p.Asn579His) c.*372+1325A>C (n.*372+1325A>C) c.562-3830T>G c.1789A>C (p.Asn597His) c.1592+1325A>C (n.1592+1325A>C) c.1513A>C (p.Asn505His) n.2169A>C | |
17 | g.17213666_17213673del | CA2250413438 | FLCN,MPRIP | c.1728_1735del (p.Ser577LeufsTer22) c.*372+1318_*372+1325del (n.*372+1318_*372+1325del) c.562-3824_562-3817del c.1782_1789del (p.Ser595LeufsTer22) c.1592+1318_1592+1325del (n.1592+1318_1592+1325del) c.1506_1513del (p.Ser503LeufsTer22) c.1782_1789del (p.Ser595LeufsTer?) c.1728_1735del (p.Ser577LeufsTer?) n.2162_2169del | dbSNP |
17 | g.17213661C>A | CA498162982 | FLCN,MPRIP | c.1734G>T (p.Arg578=) c.*372+1324G>T (n.*372+1324G>T) c.562-3829C>A c.1788G>T (p.Arg596=) c.1592+1324G>T (n.1592+1324G>T) c.1512G>T (p.Arg504=) n.2168G>T | |
17 | g.17213661C= | CA2250413440 | FLCN,MPRIP | c.1734G= (p.Arg578=) c.*372+1324G= (n.*372+1324G=) c.562-3829C= c.1788G= (p.Arg596=) c.1592+1324G= (n.1592+1324G=) c.1512G= (p.Arg504=) n.2168G= | |
17 | g.17213661C>G | CA498162983 | FLCN,MPRIP | c.1734G>C (p.Arg578=) c.*372+1324G>C (n.*372+1324G>C) c.562-3829C>G c.1788G>C (p.Arg596=) c.1592+1324G>C (n.1592+1324G>C) c.1512G>C (p.Arg504=) n.2168G>C | |
17 | g.17213661C>T | CA498162984 | FLCN,MPRIP | c.1734G>A (p.Arg578=) c.*372+1324G>A (n.*372+1324G>A) c.562-3829C>T c.1788G>A (p.Arg596=) c.1592+1324G>A (n.1592+1324G>A) c.1512G>A (p.Arg504=) n.2168G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.17213662C>A | CA398529761 | FLCN,MPRIP | c.1733G>T (p.Arg578Leu) c.*372+1323G>T (n.*372+1323G>T) c.562-3828C>A c.1787G>T (p.Arg596Leu) c.1592+1323G>T (n.1592+1323G>T) c.1511G>T (p.Arg504Leu) n.2167G>T | |
17 | g.17213662C= | CA2250413443 | FLCN,MPRIP | c.1733G= (p.Arg578=) c.*372+1323G= (n.*372+1323G=) c.562-3828C= c.1787G= (p.Arg596=) c.1592+1323G= (n.1592+1323G=) c.1511G= (p.Arg504=) n.2167G= | |
17 | g.17213662C>G | CA398529762 | FLCN,MPRIP | c.1733G>C (p.Arg578Pro) c.*372+1323G>C (n.*372+1323G>C) c.562-3828C>G c.1787G>C (p.Arg596Pro) c.1592+1323G>C (n.1592+1323G>C) c.1511G>C (p.Arg504Pro) n.2167G>C | |
17 | g.17213662C>T | CA288303478 | FLCN,MPRIP | c.1733G>A (p.Arg578Gln) c.*372+1323G>A (n.*372+1323G>A) c.562-3828C>T c.1787G>A (p.Arg596Gln) c.1592+1323G>A (n.1592+1323G>A) c.1511G>A (p.Arg504Gln) n.2167G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.17213663G>A | CA8415906 | FLCN,MPRIP | c.1732C>T (p.Arg578Trp) c.*372+1322C>T (n.*372+1322C>T) c.562-3827G>A c.1786C>T (p.Arg596Trp) c.1592+1322C>T (n.1592+1322C>T) c.1510C>T (p.Arg504Trp) n.2166C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.17213663G>C | CA398529763 | FLCN,MPRIP | c.1732C>G (p.Arg578Gly) c.*372+1322C>G (n.*372+1322C>G) c.562-3827G>C c.1786C>G (p.Arg596Gly) c.1592+1322C>G (n.1592+1322C>G) c.1510C>G (p.Arg504Gly) n.2166C>G | |
17 | g.17213663G= | CA2250413449 | FLCN,MPRIP | c.1732C= (p.Arg578=) c.*372+1322C= (n.*372+1322C=) c.562-3827G= c.1786C= (p.Arg596=) c.1592+1322C= (n.1592+1322C=) c.1510C= (p.Arg504=) n.2166C= | |
17 | g.17213663G>T | CA498162986 | FLCN,MPRIP | c.1732C>A (p.Arg578=) c.*372+1322C>A (n.*372+1322C>A) c.562-3827G>T c.1786C>A (p.Arg596=) c.1592+1322C>A (n.1592+1322C>A) c.1510C>A (p.Arg504=) n.2166C>A | |
17 | g.17213664A>C | CA498162990 | FLCN,MPRIP | c.1731T>G (p.Ser577=) c.*372+1321T>G (n.*372+1321T>G) c.562-3826A>C c.1785T>G (p.Ser595=) c.1592+1321T>G (n.1592+1321T>G) c.1509T>G (p.Ser503=) n.2165T>G | |
17 | g.17213664A>G | CA498162988 | FLCN,MPRIP | c.1731T>C (p.Ser577=) c.*372+1321T>C (n.*372+1321T>C) c.562-3826A>G c.1785T>C (p.Ser595=) c.1592+1321T>C (n.1592+1321T>C) c.1509T>C (p.Ser503=) n.2165T>C | |
17 | g.17213664A>T | CA498162987 | FLCN,MPRIP | c.1731T>A (p.Ser577=) c.*372+1321T>A (n.*372+1321T>A) c.562-3826A>T c.1785T>A (p.Ser595=) c.1592+1321T>A (n.1592+1321T>A) c.1509T>A (p.Ser503=) n.2165T>A | |
17 | g.17213665G>A | CA398529764 | FLCN,MPRIP | c.1730C>T (p.Ser577Phe) c.*372+1320C>T (n.*372+1320C>T) c.562-3825G>A c.1784C>T (p.Ser595Phe) c.1592+1320C>T (n.1592+1320C>T) c.1508C>T (p.Ser503Phe) n.2164C>T | ClinVar dbSNP gnomAD v4 |
17 | g.17213665G>C | CA398529765 | FLCN,MPRIP | c.1730C>G (p.Ser577Cys) c.*372+1320C>G (n.*372+1320C>G) c.562-3825G>C c.1784C>G (p.Ser595Cys) c.1592+1320C>G (n.1592+1320C>G) c.1508C>G (p.Ser503Cys) n.2164C>G | |
17 | g.17213665G= | CA2250413459 | FLCN,MPRIP | c.1730C= (p.Ser577=) c.*372+1320C= (n.*372+1320C=) c.562-3825G= c.1784C= (p.Ser595=) c.1592+1320C= (n.1592+1320C=) c.1508C= (p.Ser503=) n.2164C= | |
17 | g.17213665G>T | CA398529766 | FLCN,MPRIP | c.1730C>A (p.Ser577Tyr) c.*372+1320C>A (n.*372+1320C>A) c.562-3825G>T c.1784C>A (p.Ser595Tyr) c.1592+1320C>A (n.1592+1320C>A) c.1508C>A (p.Ser503Tyr) n.2164C>A | |
17 | g.17213666A= | CA2250413464 | FLCN,MPRIP | c.1729T= (p.Ser577=) c.*372+1319T= (n.*372+1319T=) c.562-3824A= c.1783T= (p.Ser595=) c.1592+1319T= (n.1592+1319T=) c.1507T= (p.Ser503=) n.2163T= | |
17 | g.17213666A>C | CA288303481 | FLCN,MPRIP | c.1729T>G (p.Ser577Ala) c.*372+1319T>G (n.*372+1319T>G) c.562-3824A>C c.1783T>G (p.Ser595Ala) c.1592+1319T>G (n.1592+1319T>G) c.1507T>G (p.Ser503Ala) n.2163T>G | ClinVar dbSNP gnomAD v4 |
17 | g.17213666A>G | CA398529767 | FLCN,MPRIP | c.1729T>C (p.Ser577Pro) c.*372+1319T>C (n.*372+1319T>C) c.562-3824A>G c.1783T>C (p.Ser595Pro) c.1592+1319T>C (n.1592+1319T>C) c.1507T>C (p.Ser503Pro) n.2163T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.17213666A>T | CA398529768 | FLCN,MPRIP | c.1729T>A (p.Ser577Thr) c.*372+1319T>A (n.*372+1319T>A) c.562-3824A>T c.1783T>A (p.Ser595Thr) c.1592+1319T>A (n.1592+1319T>A) c.1507T>A (p.Ser503Thr) n.2163T>A | |
17 | g.17213666_17213672delinsGCTGTGG | CA2825002467 | FLCN,MPRIP | c.1723_1729delinsCCACAGC (p.Ser575_Ser577delinsProGlnPro) c.*372+1313_*372+1319delinsCCACAGC (n.*372+1313_*372+1319delinsCCACAGC) c.562-3824_562-3818delinsGCTGTGG c.1777_1783delinsCCACAGC (p.Ser593_Ser595delinsProGlnPro) c.1592+1313_1592+1319delinsCCACAGC (n.1592+1313_1592+1319delinsCCACAGC) c.1501_1507delinsCCACAGC (p.Ser501_Ser503delinsProGlnPro) n.2157_2163delinsCCACAGC | ClinVar |
17 | g.17213667C>A | CA398529769 | FLCN,MPRIP | c.1728G>T (p.Glu576Asp) c.*372+1318G>T (n.*372+1318G>T) c.562-3823C>A c.1782G>T (p.Glu594Asp) c.1592+1318G>T (n.1592+1318G>T) c.1506G>T (p.Glu502Asp) n.2162G>T | ClinVar dbSNP |
17 | g.17213667C>G | CA398529770 | FLCN,MPRIP | c.1728G>C (p.Glu576Asp) c.*372+1318G>C (n.*372+1318G>C) c.562-3823C>G c.1782G>C (p.Glu594Asp) c.1592+1318G>C (n.1592+1318G>C) c.1506G>C (p.Glu502Asp) n.2162G>C | |
17 | g.17213667C>T | CA498162994 | FLCN,MPRIP | c.1728G>A (p.Glu576=) c.*372+1318G>A (n.*372+1318G>A) c.562-3823C>T c.1782G>A (p.Glu594=) c.1592+1318G>A (n.1592+1318G>A) c.1506G>A (p.Glu502=) n.2162G>A | |
17 | g.17213668T>A | CA398529771 | FLCN,MPRIP | c.1727A>T (p.Glu576Val) c.*372+1317A>T (n.*372+1317A>T) c.562-3822T>A c.1781A>T (p.Glu594Val) c.1592+1317A>T (n.1592+1317A>T) c.1505A>T (p.Glu502Val) n.2161A>T | |
17 | g.17213668T>C | CA398529773 | FLCN,MPRIP | c.1727A>G (p.Glu576Gly) c.*372+1317A>G (n.*372+1317A>G) c.562-3822T>C c.1781A>G (p.Glu594Gly) c.1592+1317A>G (n.1592+1317A>G) c.1505A>G (p.Glu502Gly) n.2161A>G | ClinVar |
17 | g.17213668T>G | CA398529772 | FLCN,MPRIP | c.1727A>C (p.Glu576Ala) c.*372+1317A>C (n.*372+1317A>C) c.562-3822T>G c.1781A>C (p.Glu594Ala) c.1592+1317A>C (n.1592+1317A>C) c.1505A>C (p.Glu502Ala) n.2161A>C | |
17 | g.17213669C>A | CA398529774 | FLCN,MPRIP | c.1726G>T (p.Glu576Ter) c.*372+1316G>T (n.*372+1316G>T) c.562-3821C>A c.1780G>T (p.Glu594Ter) c.1592+1316G>T (n.1592+1316G>T) c.1504G>T (p.Glu502Ter) n.2160G>T | |
17 | g.17213669C>G | CA398529775 | FLCN,MPRIP | c.1726G>C (p.Glu576Gln) c.*372+1316G>C (n.*372+1316G>C) c.562-3821C>G c.1780G>C (p.Glu594Gln) c.1592+1316G>C (n.1592+1316G>C) c.1504G>C (p.Glu502Gln) n.2160G>C | ClinVar |
17 | g.17213669C>T | CA398529776 | FLCN,MPRIP | c.1726G>A (p.Glu576Lys) c.*372+1316G>A (n.*372+1316G>A) c.562-3821C>T c.1780G>A (p.Glu594Lys) c.1592+1316G>A (n.1592+1316G>A) c.1504G>A (p.Glu502Lys) n.2160G>A | dbSNP |
17 | g.17213670C>A | CA498162998 | FLCN,MPRIP | c.1725G>T (p.Ser575=) c.*372+1315G>T (n.*372+1315G>T) c.562-3820C>A c.1779G>T (p.Ser593=) c.1592+1315G>T (n.1592+1315G>T) c.1503G>T (p.Ser501=) n.2159G>T | |
17 | g.17213670C= | CA2250413467 | FLCN,MPRIP | c.1725G= (p.Ser575=) c.*372+1315G= (n.*372+1315G=) c.562-3820C= c.1779G= (p.Ser593=) c.1592+1315G= (n.1592+1315G=) c.1503G= (p.Ser501=) n.2159G= | |
17 | g.17213670C>G | CA498162999 | FLCN,MPRIP | c.1725G>C (p.Ser575=) c.*372+1315G>C (n.*372+1315G>C) c.562-3820C>G c.1779G>C (p.Ser593=) c.1592+1315G>C (n.1592+1315G>C) c.1503G>C (p.Ser501=) n.2159G>C | |
17 | g.17213670C>T | CA8415907 | FLCN,MPRIP | c.1725G>A (p.Ser575=) c.*372+1315G>A (n.*372+1315G>A) c.562-3820C>T c.1779G>A (p.Ser593=) c.1592+1315G>A (n.1592+1315G>A) c.1503G>A (p.Ser501=) n.2159G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17213671G>A | CA8415908 | FLCN,MPRIP | c.1724C>T (p.Ser575Leu) c.*372+1314C>T (n.*372+1314C>T) c.562-3819G>A c.1778C>T (p.Ser593Leu) c.1592+1314C>T (n.1592+1314C>T) c.1502C>T (p.Ser501Leu) n.2158C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17213671G>C | CA398529777 | FLCN,MPRIP | c.1724C>G (p.Ser575Trp) c.*372+1314C>G (n.*372+1314C>G) c.562-3819G>C c.1778C>G (p.Ser593Trp) c.1592+1314C>G (n.1592+1314C>G) c.1502C>G (p.Ser501Trp) n.2158C>G | |
17 | g.17213671G= | CA2250413472 | FLCN,MPRIP | c.1724C= (p.Ser575=) c.*372+1314C= (n.*372+1314C=) c.562-3819G= c.1778C= (p.Ser593=) c.1592+1314C= (n.1592+1314C=) c.1502C= (p.Ser501=) n.2158C= | |
17 | g.17213671G>T | CA398529778 | FLCN,MPRIP | c.1724C>A (p.Ser575Ter) c.*372+1314C>A (n.*372+1314C>A) c.562-3819G>T c.1778C>A (p.Ser593Ter) c.1592+1314C>A (n.1592+1314C>A) c.1502C>A (p.Ser501Ter) n.2158C>A | |
17 | g.17213672_17213679del | CA2636345623 | FLCN,MPRIP | c.1717_1724del (p.Thr573GlyfsTer26) c.*372+1307_*372+1314del (n.*372+1307_*372+1314del) c.562-3818_562-3811del c.1771_1778del (p.Thr591GlyfsTer26) c.1592+1307_1592+1314del (n.1592+1307_1592+1314del) c.1495_1502del (p.Thr499GlyfsTer26) c.1771_1778del (p.Thr591GlyfsTer?) c.1717_1724del (p.Thr573GlyfsTer?) n.2151_2158del | gnomAD v4 |
17 | g.17213672A>C | CA398529779 | FLCN,MPRIP | c.1723T>G (p.Ser575Ala) c.*372+1313T>G (n.*372+1313T>G) c.562-3818A>C c.1777T>G (p.Ser593Ala) c.1592+1313T>G (n.1592+1313T>G) c.1501T>G (p.Ser501Ala) n.2157T>G | |
17 | g.17213672A>G | CA398529780 | FLCN,MPRIP | c.1723T>C (p.Ser575Pro) c.*372+1313T>C (n.*372+1313T>C) c.562-3818A>G c.1777T>C (p.Ser593Pro) c.1592+1313T>C (n.1592+1313T>C) c.1501T>C (p.Ser501Pro) n.2157T>C | ClinVar |
17 | g.17213672A>T | CA398529781 | FLCN,MPRIP | c.1723T>A (p.Ser575Thr) c.*372+1313T>A (n.*372+1313T>A) c.562-3818A>T c.1777T>A (p.Ser593Thr) c.1592+1313T>A (n.1592+1313T>A) c.1501T>A (p.Ser501Thr) n.2157T>A | |
17 | g.17213673G>A | CA498163003 | FLCN,MPRIP | c.1722C>T (p.Ala574=) c.*372+1312C>T (n.*372+1312C>T) c.562-3817G>A c.1776C>T (p.Ala592=) c.1592+1312C>T (n.1592+1312C>T) c.1500C>T (p.Ala500=) n.2156C>T | gnomAD v4 |
17 | g.17213673G>C | CA498163004 | FLCN,MPRIP | c.1722C>G (p.Ala574=) c.*372+1312C>G (n.*372+1312C>G) c.562-3817G>C c.1776C>G (p.Ala592=) c.1592+1312C>G (n.1592+1312C>G) c.1500C>G (p.Ala500=) n.2156C>G | |
17 | g.17213673G>T | CA498163005 | FLCN,MPRIP | c.1722C>A (p.Ala574=) c.*372+1312C>A (n.*372+1312C>A) c.562-3817G>T c.1776C>A (p.Ala592=) c.1592+1312C>A (n.1592+1312C>A) c.1500C>A (p.Ala500=) n.2156C>A | |
17 | g.17213674G>A | CA398529784 | FLCN,MPRIP | c.1721C>T (p.Ala574Val) c.*372+1311C>T (n.*372+1311C>T) c.562-3816G>A c.1775C>T (p.Ala592Val) c.1592+1311C>T (n.1592+1311C>T) c.1499C>T (p.Ala500Val) n.2155C>T | ClinVar dbSNP gnomAD v4 |
17 | g.17213674G>C | CA398529783 | FLCN,MPRIP | c.1721C>G (p.Ala574Gly) c.*372+1311C>G (n.*372+1311C>G) c.562-3816G>C c.1775C>G (p.Ala592Gly) c.1592+1311C>G (n.1592+1311C>G) c.1499C>G (p.Ala500Gly) n.2155C>G | |
17 | g.17213674G= | CA2250413481 | FLCN,MPRIP | c.1721C= (p.Ala574=) c.*372+1311C= (n.*372+1311C=) c.562-3816G= c.1775C= (p.Ala592=) c.1592+1311C= (n.1592+1311C=) c.1499C= (p.Ala500=) n.2155C= | |
17 | g.17213674G>T | CA398529782 | FLCN,MPRIP | c.1721C>A (p.Ala574Asp) c.*372+1311C>A (n.*372+1311C>A) c.562-3816G>T c.1775C>A (p.Ala592Asp) c.1592+1311C>A (n.1592+1311C>A) c.1499C>A (p.Ala500Asp) n.2155C>A | |
17 | g.17213675C>A | CA398529787 | FLCN,MPRIP | c.1720G>T (p.Ala574Ser) c.*372+1310G>T (n.*372+1310G>T) c.562-3815C>A c.1774G>T (p.Ala592Ser) c.1592+1310G>T (n.1592+1310G>T) c.1498G>T (p.Ala500Ser) n.2154G>T | |
17 | g.17213675C>G | CA398529785 | FLCN,MPRIP | c.1720G>C (p.Ala574Pro) c.*372+1310G>C (n.*372+1310G>C) c.562-3815C>G c.1774G>C (p.Ala592Pro) c.1592+1310G>C (n.1592+1310G>C) c.1498G>C (p.Ala500Pro) n.2154G>C | |
17 | g.17213675C>T | CA398529786 | FLCN,MPRIP | c.1720G>A (p.Ala574Thr) c.*372+1310G>A (n.*372+1310G>A) c.562-3815C>T c.1774G>A (p.Ala592Thr) c.1592+1310G>A (n.1592+1310G>A) c.1498G>A (p.Ala500Thr) n.2154G>A | ClinVar |
17 | g.17213676T>A | CA498163008 | FLCN,MPRIP | c.1719A>T (p.Thr573=) c.*372+1309A>T (n.*372+1309A>T) c.562-3814T>A c.1773A>T (p.Thr591=) c.1592+1309A>T (n.1592+1309A>T) c.1497A>T (p.Thr499=) n.2153A>T | |
17 | g.17213676T>C | CA498163010 | FLCN,MPRIP | c.1719A>G (p.Thr573=) c.*372+1309A>G (n.*372+1309A>G) c.562-3814T>C c.1773A>G (p.Thr591=) c.1592+1309A>G (n.1592+1309A>G) c.1497A>G (p.Thr499=) n.2153A>G | ClinVar gnomAD v4 |
17 | g.17213676T>G | CA498163009 | FLCN,MPRIP | c.1719A>C (p.Thr573=) c.*372+1309A>C (n.*372+1309A>C) c.562-3814T>G c.1773A>C (p.Thr591=) c.1592+1309A>C (n.1592+1309A>C) c.1497A>C (p.Thr499=) n.2153A>C | |
17 | g.17213677G>A | CA8415909 | FLCN,MPRIP | c.1718C>T (p.Thr573Ile) c.*372+1308C>T (n.*372+1308C>T) c.562-3813G>A c.1772C>T (p.Thr591Ile) c.1592+1308C>T (n.1592+1308C>T) c.1496C>T (p.Thr499Ile) n.2152C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.17213677G>C | CA398529788 | FLCN,MPRIP | c.1718C>G (p.Thr573Arg) c.*372+1308C>G (n.*372+1308C>G) c.562-3813G>C c.1772C>G (p.Thr591Arg) c.1592+1308C>G (n.1592+1308C>G) c.1496C>G (p.Thr499Arg) n.2152C>G | |
17 | g.17213677G= | CA2250413483 | FLCN,MPRIP | c.1718C= (p.Thr573=) c.*372+1308C= (n.*372+1308C=) c.562-3813G= c.1772C= (p.Thr591=) c.1592+1308C= (n.1592+1308C=) c.1496C= (p.Thr499=) n.2152C= | |
17 | g.17213677G>T | CA398529789 | FLCN,MPRIP | c.1718C>A (p.Thr573Lys) c.*372+1308C>A (n.*372+1308C>A) c.562-3813G>T c.1772C>A (p.Thr591Lys) c.1592+1308C>A (n.1592+1308C>A) c.1496C>A (p.Thr499Lys) n.2152C>A | |
17 | g.17213678T>A | CA8415910 | FLCN,MPRIP | c.1717A>T (p.Thr573Ser) c.*372+1307A>T (n.*372+1307A>T) c.562-3812T>A c.1771A>T (p.Thr591Ser) c.1592+1307A>T (n.1592+1307A>T) c.1495A>T (p.Thr499Ser) n.2151A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17213678T>C | CA398529790 | FLCN,MPRIP | c.1717A>G (p.Thr573Ala) c.*372+1307A>G (n.*372+1307A>G) c.562-3812T>C c.1771A>G (p.Thr591Ala) c.1592+1307A>G (n.1592+1307A>G) c.1495A>G (p.Thr499Ala) n.2151A>G | ClinVar dbSNP |
17 | g.17213678T>G | CA398529791 | FLCN,MPRIP | c.1717A>C (p.Thr573Pro) c.*372+1307A>C (n.*372+1307A>C) c.562-3812T>G c.1771A>C (p.Thr591Pro) c.1592+1307A>C (n.1592+1307A>C) c.1495A>C (p.Thr499Pro) n.2151A>C | dbSNP |
17 | g.17213678T= | CA2250413490 | FLCN,MPRIP | c.1717A= (p.Thr573=) c.*372+1307A= (n.*372+1307A=) c.562-3812T= c.1771A= (p.Thr591=) c.1592+1307A= (n.1592+1307A=) c.1495A= (p.Thr499=) n.2151A= | |
17 | g.17213678_17213679delinsTG | CA2250413494 | FLCN,MPRIP | c.1716_1717delinsCA (p.Pro572=) c.*372+1306_*372+1307delinsCA (n.*372+1306_*372+1307delinsCA) c.562-3812_562-3811delinsTG c.1770_1771delinsCA (p.Pro590=) c.1592+1306_1592+1307delinsCA (n.1592+1306_1592+1307delinsCA) c.1494_1495delinsCA (p.Pro498=) n.2150_2151delinsCA | |
17 | g.17213679G>A | CA498163014 | FLCN,MPRIP | c.1716C>T (p.Pro572=) c.*372+1306C>T (n.*372+1306C>T) c.562-3811G>A c.1770C>T (p.Pro590=) c.1592+1306C>T (n.1592+1306C>T) c.1494C>T (p.Pro498=) n.2150C>T | ClinVar gnomAD v4 |
17 | g.17213679G>C | CA498163015 | FLCN,MPRIP | c.1716C>G (p.Pro572=) c.*372+1306C>G (n.*372+1306C>G) c.562-3811G>C c.1770C>G (p.Pro590=) c.1592+1306C>G (n.1592+1306C>G) c.1494C>G (p.Pro498=) n.2150C>G | |
17 | g.17213679G>T | CA498163017 | FLCN,MPRIP | c.1716C>A (p.Pro572=) c.*372+1306C>A (n.*372+1306C>A) c.562-3811G>T c.1770C>A (p.Pro590=) c.1592+1306C>A (n.1592+1306C>A) c.1494C>A (p.Pro498=) n.2150C>A | |
17 | g.17213682del | CA1139665241 | FLCN,MPRIP | c.1716del (p.Thr573GlnfsTer15) c.*372+1306del (n.*372+1306del) c.562-3808del c.1770del (p.Thr591GlnfsTer15) c.1592+1306del (n.1592+1306del) c.1494del (p.Thr499GlnfsTer15) c.1770del (p.Thr591GlnfsTer?) c.1716del (p.Thr573GlnfsTer?) n.2150del | ClinVar dbSNP |
17 | g.17213680G>A | CA398529792 | FLCN,MPRIP | c.1715C>T (p.Pro572Leu) c.*372+1305C>T (n.*372+1305C>T) c.562-3810G>A c.1769C>T (p.Pro590Leu) c.1592+1305C>T (n.1592+1305C>T) c.1493C>T (p.Pro498Leu) n.2149C>T | gnomAD v4 |
17 | g.17213680G>C | CA398529793 | FLCN,MPRIP | c.1715C>G (p.Pro572Arg) c.*372+1305C>G (n.*372+1305C>G) c.562-3810G>C c.1769C>G (p.Pro590Arg) c.1592+1305C>G (n.1592+1305C>G) c.1493C>G (p.Pro498Arg) n.2149C>G | |
17 | g.17213680G= | CA2250413500 | FLCN,MPRIP | c.1715C= (p.Pro572=) c.*372+1305C= (n.*372+1305C=) c.562-3810G= c.1769C= (p.Pro590=) c.1592+1305C= (n.1592+1305C=) c.1493C= (p.Pro498=) n.2149C= | |
17 | g.17213680G>T | CA398529794 | FLCN,MPRIP | c.1715C>A (p.Pro572His) c.*372+1305C>A (n.*372+1305C>A) c.562-3810G>T c.1769C>A (p.Pro590His) c.1592+1305C>A (n.1592+1305C>A) c.1493C>A (p.Pro498His) n.2149C>A | ClinVar dbSNP |
17 | g.17213681G>A | CA398529795 | FLCN,MPRIP | c.1714C>T (p.Pro572Ser) c.*372+1304C>T (n.*372+1304C>T) c.562-3809G>A c.1768C>T (p.Pro590Ser) c.1592+1304C>T (n.1592+1304C>T) c.1492C>T (p.Pro498Ser) n.2148C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.17213681G>C | CA398529796 | FLCN,MPRIP | c.1714C>G (p.Pro572Ala) c.*372+1304C>G (n.*372+1304C>G) c.562-3809G>C c.1768C>G (p.Pro590Ala) c.1592+1304C>G (n.1592+1304C>G) c.1492C>G (p.Pro498Ala) n.2148C>G | ClinVar dbSNP |
17 | g.17213681G= | CA2250413505 | FLCN,MPRIP | c.1714C= (p.Pro572=) c.*372+1304C= (n.*372+1304C=) c.562-3809G= c.1768C= (p.Pro590=) c.1592+1304C= (n.1592+1304C=) c.1492C= (p.Pro498=) n.2148C= | |
17 | g.17213681G>T | CA398529797 | FLCN,MPRIP | c.1714C>A (p.Pro572Thr) c.*372+1304C>A (n.*372+1304C>A) c.562-3809G>T c.1768C>A (p.Pro590Thr) c.1592+1304C>A (n.1592+1304C>A) c.1492C>A (p.Pro498Thr) n.2148C>A | |
17 | g.17213682G>A | CA498163019 | FLCN,MPRIP | c.1713C>T (p.Ser571=) c.*372+1303C>T (n.*372+1303C>T) c.562-3808G>A c.1767C>T (p.Ser589=) c.1592+1303C>T (n.1592+1303C>T) c.1491C>T (p.Ser497=) n.2147C>T | ClinVar dbSNP gnomAD v4 |
17 | g.17213682G>C | CA398529798 | FLCN,MPRIP | c.1713C>G (p.Ser571Arg) c.*372+1303C>G (n.*372+1303C>G) c.562-3808G>C c.1767C>G (p.Ser589Arg) c.1592+1303C>G (n.1592+1303C>G) c.1491C>G (p.Ser497Arg) n.2147C>G | |
17 | g.17213682G>T | CA398529799 | FLCN,MPRIP | c.1713C>A (p.Ser571Arg) c.*372+1303C>A (n.*372+1303C>A) c.562-3808G>T c.1767C>A (p.Ser589Arg) c.1592+1303C>A (n.1592+1303C>A) c.1491C>A (p.Ser497Arg) n.2147C>A | |
17 | g.17213683C>A | CA398529800 | FLCN,MPRIP | c.1712G>T (p.Ser571Ile) c.*372+1302G>T (n.*372+1302G>T) c.562-3807C>A c.1766G>T (p.Ser589Ile) c.1592+1302G>T (n.1592+1302G>T) c.1490G>T (p.Ser497Ile) n.2146G>T | |
17 | g.17213683C>G | CA398529801 | FLCN,MPRIP | c.1712G>C (p.Ser571Thr) c.*372+1302G>C (n.*372+1302G>C) c.562-3807C>G c.1766G>C (p.Ser589Thr) c.1592+1302G>C (n.1592+1302G>C) c.1490G>C (p.Ser497Thr) n.2146G>C | dbSNP |
17 | g.17213683C>T | CA398529802 | FLCN,MPRIP | c.1712G>A (p.Ser571Asn) c.*372+1302G>A (n.*372+1302G>A) c.562-3807C>T c.1766G>A (p.Ser589Asn) c.1592+1302G>A (n.1592+1302G>A) c.1490G>A (p.Ser497Asn) n.2146G>A | |
17 | g.17213684T>A | CA398529803 | FLCN,MPRIP | c.1711A>T (p.Ser571Cys) c.*372+1301A>T (n.*372+1301A>T) c.562-3806T>A c.1765A>T (p.Ser589Cys) c.1592+1301A>T (n.1592+1301A>T) c.1489A>T (p.Ser497Cys) n.2145A>T | |
17 | g.17213684T>C | CA398529804 | FLCN,MPRIP | c.1711A>G (p.Ser571Gly) c.*372+1301A>G (n.*372+1301A>G) c.562-3806T>C c.1765A>G (p.Ser589Gly) c.1592+1301A>G (n.1592+1301A>G) c.1489A>G (p.Ser497Gly) n.2145A>G | |
17 | g.17213684T>G | CA398529805 | FLCN,MPRIP | c.1711A>C (p.Ser571Arg) c.*372+1301A>C (n.*372+1301A>C) c.562-3806T>G c.1765A>C (p.Ser589Arg) c.1592+1301A>C (n.1592+1301A>C) c.1489A>C (p.Ser497Arg) n.2145A>C | gnomAD v4 |
17 | g.17213685G>A | CA498163025 | FLCN,MPRIP | c.1710C>T (p.Arg570=) c.*372+1300C>T (n.*372+1300C>T) c.562-3805G>A c.1764C>T (p.Arg588=) c.1592+1300C>T (n.1592+1300C>T) c.1488C>T (p.Arg496=) n.2144C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.17213685G>C | CA498163023 | FLCN,MPRIP | c.1710C>G (p.Arg570=) c.*372+1300C>G (n.*372+1300C>G) c.562-3805G>C c.1764C>G (p.Arg588=) c.1592+1300C>G (n.1592+1300C>G) c.1488C>G (p.Arg496=) n.2144C>G | |
17 | g.17213685G= | CA2250413506 | FLCN,MPRIP | c.1710C= (p.Arg570=) c.*372+1300C= (n.*372+1300C=) c.562-3805G= c.1764C= (p.Arg588=) c.1592+1300C= (n.1592+1300C=) c.1488C= (p.Arg496=) n.2144C= | |
17 | g.17213685G>T | CA498163024 | FLCN,MPRIP | c.1710C>A (p.Arg570=) c.*372+1300C>A (n.*372+1300C>A) c.562-3805G>T c.1764C>A (p.Arg588=) c.1592+1300C>A (n.1592+1300C>A) c.1488C>A (p.Arg496=) n.2144C>A | |
17 | g.17213686C>A | CA288303537 | FLCN,MPRIP | c.1709G>T (p.Arg570Leu) c.*372+1299G>T (n.*372+1299G>T) c.562-3804C>A c.1763G>T (p.Arg588Leu) c.1592+1299G>T (n.1592+1299G>T) c.1487G>T (p.Arg496Leu) n.2143G>T | ClinVar dbSNP gnomAD v4 |
17 | g.17213686C= | CA2250413507 | FLCN,MPRIP | c.1709G= (p.Arg570=) c.*372+1299G= (n.*372+1299G=) c.562-3804C= c.1763G= (p.Arg588=) c.1592+1299G= (n.1592+1299G=) c.1487G= (p.Arg496=) n.2143G= | |
17 | g.17213686C>G | CA398529806 | FLCN,MPRIP | c.1709G>C (p.Arg570Pro) c.*372+1299G>C (n.*372+1299G>C) c.562-3804C>G c.1763G>C (p.Arg588Pro) c.1592+1299G>C (n.1592+1299G>C) c.1487G>C (p.Arg496Pro) n.2143G>C | dbSNP |
17 | g.17213686C>T | CA8415911 | FLCN,MPRIP | c.1709G>A (p.Arg570His) c.*372+1299G>A (n.*372+1299G>A) c.562-3804C>T c.1763G>A (p.Arg588His) c.1592+1299G>A (n.1592+1299G>A) c.1487G>A (p.Arg496His) n.2143G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17213687_17213742dup | CA2580092680 | FLCN,MPRIP | c.1654_1709dup (p.Pro572GlyfsTer2) c.*372+1244_*372+1299dup (n.*372+1244_*372+1299dup) c.562-3803_562-3748dup c.1708_1763dup (p.Pro590GlyfsTer2) c.1592+1244_1592+1299dup (n.1592+1244_1592+1299dup) c.1432_1487dup (p.Pro498GlyfsTer2) n.2088_2143dup | ClinVar |
17 | g.17213687G>A | CA8415912 | FLCN,MPRIP | c.1708C>T (p.Arg570Cys) c.*372+1298C>T (n.*372+1298C>T) c.562-3803G>A c.1762C>T (p.Arg588Cys) c.1592+1298C>T (n.1592+1298C>T) c.1486C>T (p.Arg496Cys) n.2142C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.17213687G>C | CA398529807 | FLCN,MPRIP | c.1708C>G (p.Arg570Gly) c.*372+1298C>G (n.*372+1298C>G) c.562-3803G>C c.1762C>G (p.Arg588Gly) c.1592+1298C>G (n.1592+1298C>G) c.1486C>G (p.Arg496Gly) n.2142C>G | |
17 | g.17213687G= | CA2250413508 | FLCN,MPRIP | c.1708C= (p.Arg570=) c.*372+1298C= (n.*372+1298C=) c.562-3803G= c.1762C= (p.Arg588=) c.1592+1298C= (n.1592+1298C=) c.1486C= (p.Arg496=) n.2142C= | |
17 | g.17213687G>T | CA398529808 | FLCN,MPRIP | c.1708C>A (p.Arg570Ser) c.*372+1298C>A (n.*372+1298C>A) c.562-3803G>T c.1762C>A (p.Arg588Ser) c.1592+1298C>A (n.1592+1298C>A) c.1486C>A (p.Arg496Ser) n.2142C>A | |
17 | g.17213688G>A | CA498163027 | FLCN,MPRIP | c.1707C>T (p.Val569=) c.*372+1297C>T (n.*372+1297C>T) c.562-3802G>A c.1761C>T (p.Val587=) c.1592+1297C>T (n.1592+1297C>T) c.1485C>T (p.Val495=) n.2141C>T | ClinVar dbSNP gnomAD v4 |
17 | g.17213688G>C | CA498163028 | FLCN,MPRIP | c.1707C>G (p.Val569=) c.*372+1297C>G (n.*372+1297C>G) c.562-3802G>C c.1761C>G (p.Val587=) c.1592+1297C>G (n.1592+1297C>G) c.1485C>G (p.Val495=) n.2141C>G | dbSNP |
17 | g.17213688G= | CA2250413509 | FLCN,MPRIP | c.1707C= (p.Val569=) c.*372+1297C= (n.*372+1297C=) c.562-3802G= c.1761C= (p.Val587=) c.1592+1297C= (n.1592+1297C=) c.1485C= (p.Val495=) n.2141C= | |
17 | g.17213688G>T | CA498163029 | FLCN,MPRIP | c.1707C>A (p.Val569=) c.*372+1297C>A (n.*372+1297C>A) c.562-3802G>T c.1761C>A (p.Val587=) c.1592+1297C>A (n.1592+1297C>A) c.1485C>A (p.Val495=) n.2141C>A | |
17 | g.17213689A>C | CA398529810 | FLCN,MPRIP | c.1706T>G (p.Val569Gly) c.*372+1296T>G (n.*372+1296T>G) c.562-3801A>C c.1760T>G (p.Val587Gly) c.1592+1296T>G (n.1592+1296T>G) c.1484T>G (p.Val495Gly) n.2140T>G | |
17 | g.17213689A>G | CA398529811 | FLCN,MPRIP | c.1706T>C (p.Val569Ala) c.*372+1296T>C (n.*372+1296T>C) c.562-3801A>G c.1760T>C (p.Val587Ala) c.1592+1296T>C (n.1592+1296T>C) c.1484T>C (p.Val495Ala) n.2140T>C | ClinVar dbSNP gnomAD v4 |
17 | g.17213689A>T | CA398529809 | FLCN,MPRIP | c.1706T>A (p.Val569Asp) c.*372+1296T>A (n.*372+1296T>A) c.562-3801A>T c.1760T>A (p.Val587Asp) c.1592+1296T>A (n.1592+1296T>A) c.1484T>A (p.Val495Asp) n.2140T>A | dbSNP |
17 | g.17213690C>A | CA398529812 | FLCN,MPRIP | c.1705G>T (p.Val569Phe) c.*372+1295G>T (n.*372+1295G>T) c.562-3800C>A c.1759G>T (p.Val587Phe) c.1592+1295G>T (n.1592+1295G>T) c.1483G>T (p.Val495Phe) n.2139G>T | dbSNP |
17 | g.17213690C>G | CA398529814 | FLCN,MPRIP | c.1705G>C (p.Val569Leu) c.*372+1295G>C (n.*372+1295G>C) c.562-3800C>G c.1759G>C (p.Val587Leu) c.1592+1295G>C (n.1592+1295G>C) c.1483G>C (p.Val495Leu) n.2139G>C | dbSNP |
17 | g.17213690C>T | CA398529813 | FLCN,MPRIP | c.1705G>A (p.Val569Ile) c.*372+1295G>A (n.*372+1295G>A) c.562-3800C>T c.1759G>A (p.Val587Ile) c.1592+1295G>A (n.1592+1295G>A) c.1483G>A (p.Val495Ile) n.2139G>A | dbSNP |
17 | g.17213691C>A | CA498163033 | FLCN,MPRIP | c.1704G>T (p.Thr568=) c.*372+1294G>T (n.*372+1294G>T) c.562-3799C>A c.1758G>T (p.Thr586=) c.1592+1294G>T (n.1592+1294G>T) c.1482G>T (p.Thr494=) n.2138G>T | dbSNP |
17 | g.17213691C= | CA2250413510 | FLCN,MPRIP | c.1704G= (p.Thr568=) c.*372+1294G= (n.*372+1294G=) c.562-3799C= c.1758G= (p.Thr586=) c.1592+1294G= (n.1592+1294G=) c.1482G= (p.Thr494=) n.2138G= | |
17 | g.17213691C>G | CA498163034 | FLCN,MPRIP | c.1704G>C (p.Thr568=) c.*372+1294G>C (n.*372+1294G>C) c.562-3799C>G c.1758G>C (p.Thr586=) c.1592+1294G>C (n.1592+1294G>C) c.1482G>C (p.Thr494=) n.2138G>C | ClinVar dbSNP |
17 | g.17213691C>T | CA8415913 | FLCN,MPRIP | c.1704G>A (p.Thr568=) c.*372+1294G>A (n.*372+1294G>A) c.562-3799C>T c.1758G>A (p.Thr586=) c.1592+1294G>A (n.1592+1294G>A) c.1482G>A (p.Thr494=) n.2138G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17213692G>A | CA8415914 | FLCN,MPRIP | c.1703C>T (p.Thr568Met) c.*372+1293C>T (n.*372+1293C>T) c.562-3798G>A c.1757C>T (p.Thr586Met) c.1592+1293C>T (n.1592+1293C>T) c.1481C>T (p.Thr494Met) n.2137C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.17213692G>C | CA398529815 | FLCN,MPRIP | c.1703C>G (p.Thr568Arg) c.*372+1293C>G (n.*372+1293C>G) c.562-3798G>C c.1757C>G (p.Thr586Arg) c.1592+1293C>G (n.1592+1293C>G) c.1481C>G (p.Thr494Arg) n.2137C>G | ClinVar dbSNP |
17 | g.17213692G= | CA2250413511 | FLCN,MPRIP | c.1703C= (p.Thr568=) c.*372+1293C= (n.*372+1293C=) c.562-3798G= c.1757C= (p.Thr586=) c.1592+1293C= (n.1592+1293C=) c.1481C= (p.Thr494=) n.2137C= | |
17 | g.17213692G>T | CA398529816 | FLCN,MPRIP | c.1703C>A (p.Thr568Lys) c.*372+1293C>A (n.*372+1293C>A) c.562-3798G>T c.1757C>A (p.Thr586Lys) c.1592+1293C>A (n.1592+1293C>A) c.1481C>A (p.Thr494Lys) n.2137C>A | dbSNP |
17 | g.17213693T>A | CA398529817 | FLCN,MPRIP | c.1702A>T (p.Thr568Ser) c.*372+1292A>T (n.*372+1292A>T) c.562-3797T>A c.1756A>T (p.Thr586Ser) c.1592+1292A>T (n.1592+1292A>T) c.1480A>T (p.Thr494Ser) n.2136A>T | dbSNP |
17 | g.17213693T>C | CA8415915 | FLCN,MPRIP | c.1702A>G (p.Thr568Ala) c.*372+1292A>G (n.*372+1292A>G) c.562-3797T>C c.1756A>G (p.Thr586Ala) c.1592+1292A>G (n.1592+1292A>G) c.1480A>G (p.Thr494Ala) n.2136A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17213693T>G | CA398529818 | FLCN,MPRIP | c.1702A>C (p.Thr568Pro) c.*372+1292A>C (n.*372+1292A>C) c.562-3797T>G c.1756A>C (p.Thr586Pro) c.1592+1292A>C (n.1592+1292A>C) c.1480A>C (p.Thr494Pro) n.2136A>C | dbSNP |
17 | g.17213693T= | CA2250413513 | FLCN,MPRIP | c.1702A= (p.Thr568=) c.*372+1292A= (n.*372+1292A=) c.562-3797T= c.1756A= (p.Thr586=) c.1592+1292A= (n.1592+1292A=) c.1480A= (p.Thr494=) n.2136A= | |
17 | g.17213694G>A | CA498163039 | FLCN,MPRIP | c.1701C>T (p.Ser567=) c.*372+1291C>T (n.*372+1291C>T) c.562-3796G>A c.1755C>T (p.Ser585=) c.1592+1291C>T (n.1592+1291C>T) c.1479C>T (p.Ser493=) n.2135C>T | dbSNP |
17 | g.17213694G>C | CA498163040 | FLCN,MPRIP | c.1701C>G (p.Ser567=) c.*372+1291C>G (n.*372+1291C>G) c.562-3796G>C c.1755C>G (p.Ser585=) c.1592+1291C>G (n.1592+1291C>G) c.1479C>G (p.Ser493=) n.2135C>G | |
17 | g.17213694G>T | CA498163041 | FLCN,MPRIP | c.1701C>A (p.Ser567=) c.*372+1291C>A (n.*372+1291C>A) c.562-3796G>T c.1755C>A (p.Ser585=) c.1592+1291C>A (n.1592+1291C>A) c.1479C>A (p.Ser493=) n.2135C>A | |
17 | g.17213695G>A | CA398529819 | FLCN,MPRIP | c.1700C>T (p.Ser567Phe) c.*372+1290C>T (n.*372+1290C>T) c.562-3795G>A c.1754C>T (p.Ser585Phe) c.1592+1290C>T (n.1592+1290C>T) c.1478C>T (p.Ser493Phe) n.2134C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17213695G>C | CA398529820 | FLCN,MPRIP | c.1700C>G (p.Ser567Cys) c.*372+1290C>G (n.*372+1290C>G) c.562-3795G>C c.1754C>G (p.Ser585Cys) c.1592+1290C>G (n.1592+1290C>G) c.1478C>G (p.Ser493Cys) n.2134C>G | dbSNP |
17 | g.17213695G= | CA2250413516 | FLCN,MPRIP | c.1700C= (p.Ser567=) c.*372+1290C= (n.*372+1290C=) c.562-3795G= c.1754C= (p.Ser585=) c.1592+1290C= (n.1592+1290C=) c.1478C= (p.Ser493=) n.2134C= | |
17 | g.17213695G>T | CA398529821 | FLCN,MPRIP | c.1700C>A (p.Ser567Tyr) c.*372+1290C>A (n.*372+1290C>A) c.562-3795G>T c.1754C>A (p.Ser585Tyr) c.1592+1290C>A (n.1592+1290C>A) c.1478C>A (p.Ser493Tyr) n.2134C>A | |
17 | g.17213696A>C | CA398529822 | FLCN,MPRIP | c.1699T>G (p.Ser567Ala) c.*372+1289T>G (n.*372+1289T>G) c.562-3794A>C c.1753T>G (p.Ser585Ala) c.1592+1289T>G (n.1592+1289T>G) c.1477T>G (p.Ser493Ala) n.2133T>G | |
17 | g.17213696A>G | CA398529823 | FLCN,MPRIP | c.1699T>C (p.Ser567Pro) c.*372+1289T>C (n.*372+1289T>C) c.562-3794A>G c.1753T>C (p.Ser585Pro) c.1592+1289T>C (n.1592+1289T>C) c.1477T>C (p.Ser493Pro) n.2133T>C | |
17 | g.17213696A>T | CA398529824 | FLCN,MPRIP | c.1699T>A (p.Ser567Thr) c.*372+1289T>A (n.*372+1289T>A) c.562-3794A>T c.1753T>A (p.Ser585Thr) c.1592+1289T>A (n.1592+1289T>A) c.1477T>A (p.Ser493Thr) n.2133T>A | dbSNP |
17 | g.17213697C>A | CA398529825 | FLCN,MPRIP | c.1698G>T (p.Met566Ile) c.*372+1288G>T (n.*372+1288G>T) c.562-3793C>A c.1752G>T (p.Met584Ile) c.1592+1288G>T (n.1592+1288G>T) c.1476G>T (p.Met492Ile) n.2132G>T | dbSNP |
17 | g.17213697C= | CA2250413521 | FLCN,MPRIP | c.1698G= (p.Met566=) c.*372+1288G= (n.*372+1288G=) c.562-3793C= c.1752G= (p.Met584=) c.1592+1288G= (n.1592+1288G=) c.1476G= (p.Met492=) n.2132G= | |
17 | g.17213697C>G | CA398529826 | FLCN,MPRIP | c.1698G>C (p.Met566Ile) c.*372+1288G>C (n.*372+1288G>C) c.562-3793C>G c.1752G>C (p.Met584Ile) c.1592+1288G>C (n.1592+1288G>C) c.1476G>C (p.Met492Ile) n.2132G>C | dbSNP |
17 | g.17213697C>T | CA288303555 | FLCN,MPRIP | c.1698G>A (p.Met566Ile) c.*372+1288G>A (n.*372+1288G>A) c.562-3793C>T c.1752G>A (p.Met584Ile) c.1592+1288G>A (n.1592+1288G>A) c.1476G>A (p.Met492Ile) n.2132G>A | ClinVar dbSNP |
17 | g.17213698A= | CA2250413524 | FLCN,MPRIP | c.1697T= (p.Met566=) c.*372+1287T= (n.*372+1287T=) c.562-3792A= c.1751T= (p.Met584=) c.1592+1287T= (n.1592+1287T=) c.1475T= (p.Met492=) n.2131T= | |
17 | g.17213698A>C | CA398529827 | FLCN,MPRIP | c.1697T>G (p.Met566Arg) c.*372+1287T>G (n.*372+1287T>G) c.562-3792A>C c.1751T>G (p.Met584Arg) c.1592+1287T>G (n.1592+1287T>G) c.1475T>G (p.Met492Arg) n.2131T>G | |
17 | g.17213698A>G | CA8415916 | FLCN,MPRIP | c.1697T>C (p.Met566Thr) c.*372+1287T>C (n.*372+1287T>C) c.562-3792A>G c.1751T>C (p.Met584Thr) c.1592+1287T>C (n.1592+1287T>C) c.1475T>C (p.Met492Thr) n.2131T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.17213698A>T | CA398529828 | FLCN,MPRIP | c.1697T>A (p.Met566Lys) c.*372+1287T>A (n.*372+1287T>A) c.562-3792A>T c.1751T>A (p.Met584Lys) c.1592+1287T>A (n.1592+1287T>A) c.1475T>A (p.Met492Lys) n.2131T>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.17213699T>A | CA398529829 | FLCN,MPRIP | c.1696A>T (p.Met566Leu) c.*372+1286A>T (n.*372+1286A>T) c.562-3791T>A c.1750A>T (p.Met584Leu) c.1592+1286A>T (n.1592+1286A>T) c.1474A>T (p.Met492Leu) n.2130A>T | |
17 | g.17213699T>C | CA398529830 | FLCN,MPRIP | c.1696A>G (p.Met566Val) c.*372+1286A>G (n.*372+1286A>G) c.562-3791T>C c.1750A>G (p.Met584Val) c.1592+1286A>G (n.1592+1286A>G) c.1474A>G (p.Met492Val) n.2130A>G | ClinVar gnomAD v4 |
17 | g.17213699T>G | CA398529831 | FLCN,MPRIP | c.1696A>C (p.Met566Leu) c.*372+1286A>C (n.*372+1286A>C) c.562-3791T>G c.1750A>C (p.Met584Leu) c.1592+1286A>C (n.1592+1286A>C) c.1474A>C (p.Met492Leu) n.2130A>C | |
17 | g.17213700G>A | CA498163045 | FLCN,MPRIP | c.1695C>T (p.Leu565=) c.*372+1285C>T (n.*372+1285C>T) c.562-3790G>A c.1749C>T (p.Leu583=) c.1592+1285C>T (n.1592+1285C>T) c.1473C>T (p.Leu491=) n.2965C>T n.2129C>T | |
17 | g.17213700G>C | CA498163046 | FLCN,MPRIP | c.1695C>G (p.Leu565=) c.*372+1285C>G (n.*372+1285C>G) c.562-3790G>C c.1749C>G (p.Leu583=) c.1592+1285C>G (n.1592+1285C>G) c.1473C>G (p.Leu491=) n.2965C>G n.2129C>G | ClinVar dbSNP |
17 | g.17213700G>T | CA498163048 | FLCN,MPRIP | c.1695C>A (p.Leu565=) c.*372+1285C>A (n.*372+1285C>A) c.562-3790G>T c.1749C>A (p.Leu583=) c.1592+1285C>A (n.1592+1285C>A) c.1473C>A (p.Leu491=) n.2965C>A n.2129C>A | |
17 | g.17213701A>C | CA398529832 | FLCN,MPRIP | c.1694T>G (p.Leu565Arg) c.*372+1284T>G (n.*372+1284T>G) c.562-3789A>C c.1748T>G (p.Leu583Arg) c.1592+1284T>G (n.1592+1284T>G) c.1472T>G (p.Leu491Arg) n.2964T>G n.2128T>G | |
17 | g.17213701A>G | CA398529833 | FLCN,MPRIP | c.1694T>C (p.Leu565Pro) c.*372+1284T>C (n.*372+1284T>C) c.562-3789A>G c.1748T>C (p.Leu583Pro) c.1592+1284T>C (n.1592+1284T>C) c.1472T>C (p.Leu491Pro) n.2964T>C n.2128T>C | |
17 | g.17213701A>T | CA398529834 | FLCN,MPRIP | c.1694T>A (p.Leu565His) c.*372+1284T>A (n.*372+1284T>A) c.562-3789A>T c.1748T>A (p.Leu583His) c.1592+1284T>A (n.1592+1284T>A) c.1472T>A (p.Leu491His) n.2964T>A n.2128T>A | |
17 | g.17213702G>A | CA398529837 | FLCN,MPRIP | c.1693C>T (p.Leu565Phe) c.*372+1283C>T (n.*372+1283C>T) c.562-3788G>A c.1747C>T (p.Leu583Phe) c.1592+1283C>T (n.1592+1283C>T) c.1471C>T (p.Leu491Phe) n.2963C>T n.2127C>T | ClinVar dbSNP |
17 | g.17213702G>C | CA398529836 | FLCN,MPRIP | c.1693C>G (p.Leu565Val) c.*372+1283C>G (n.*372+1283C>G) c.562-3788G>C c.1747C>G (p.Leu583Val) c.1592+1283C>G (n.1592+1283C>G) c.1471C>G (p.Leu491Val) n.2963C>G n.2127C>G | |
17 | g.17213702G= | CA2250413527 | FLCN,MPRIP | c.1693C= (p.Leu565=) c.*372+1283C= (n.*372+1283C=) c.562-3788G= c.1747C= (p.Leu583=) c.1592+1283C= (n.1592+1283C=) c.1471C= (p.Leu491=) n.2963C= n.2127C= | |
17 | g.17213702G>T | CA398529835 | FLCN,MPRIP | c.1693C>A (p.Leu565Ile) c.*372+1283C>A (n.*372+1283C>A) c.562-3788G>T c.1747C>A (p.Leu583Ile) c.1592+1283C>A (n.1592+1283C>A) c.1471C>A (p.Leu491Ile) n.2963C>A n.2127C>A | |
17 | g.17213703G>A | CA190442 | FLCN,MPRIP | c.1692C>T (p.His564=) c.*372+1282C>T (n.*372+1282C>T) c.562-3787G>A c.1746C>T (p.His582=) c.1592+1282C>T (n.1592+1282C>T) c.1470C>T (p.His490=) n.2962C>T n.2126C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17213703G>C | CA398529838 | FLCN,MPRIP | c.1692C>G (p.His564Gln) c.*372+1282C>G (n.*372+1282C>G) c.562-3787G>C c.1746C>G (p.His582Gln) c.1592+1282C>G (n.1592+1282C>G) c.1470C>G (p.His490Gln) n.2962C>G n.2126C>G | ClinVar |
17 | g.17213703G= | CA2250413528 | FLCN,MPRIP | c.1692C= (p.His564=) c.*372+1282C= (n.*372+1282C=) c.562-3787G= c.1746C= (p.His582=) c.1592+1282C= (n.1592+1282C=) c.1470C= (p.His490=) n.2962C= n.2126C= | |
17 | g.17213703G>T | CA398529839 | FLCN,MPRIP | c.1692C>A (p.His564Gln) c.*372+1282C>A (n.*372+1282C>A) c.562-3787G>T c.1746C>A (p.His582Gln) c.1592+1282C>A (n.1592+1282C>A) c.1470C>A (p.His490Gln) n.2962C>A n.2126C>A | |
17 | g.17213706_17213707dup | CA2581463433 | FLCN,MPRIP | c.1691_1692dup (p.Leu565ThrfsTer24) c.*372+1281_*372+1282dup (n.*372+1281_*372+1282dup) c.562-3784_562-3783dup c.1745_1746dup (p.Leu583ThrfsTer24) c.1592+1281_1592+1282dup (n.1592+1281_1592+1282dup) c.1469_1470dup (p.Leu491ThrfsTer24) n.2961_2962dup c.1745_1746dup (p.Leu583ThrfsTer?) c.1691_1692dup (p.Leu565ThrfsTer?) n.2125_2126dup | gnomAD v4 |
17 | g.17213704T>A | CA398529840 | FLCN,MPRIP | c.1691A>T (p.His564Leu) c.*372+1281A>T (n.*372+1281A>T) c.562-3786T>A c.1745A>T (p.His582Leu) c.1592+1281A>T (n.1592+1281A>T) c.1469A>T (p.His490Leu) n.2961A>T n.2125A>T | ClinVar |
17 | g.17213704T>C | CA398529841 | FLCN,MPRIP | c.1691A>G (p.His564Arg) c.*372+1281A>G (n.*372+1281A>G) c.562-3786T>C c.1745A>G (p.His582Arg) c.1592+1281A>G (n.1592+1281A>G) c.1469A>G (p.His490Arg) n.2961A>G n.2125A>G | |
17 | g.17213704T>G | CA398529842 | FLCN,MPRIP | c.1691A>C (p.His564Pro) c.*372+1281A>C (n.*372+1281A>C) c.562-3786T>G c.1745A>C (p.His582Pro) c.1592+1281A>C (n.1592+1281A>C) c.1469A>C (p.His490Pro) n.2961A>C n.2125A>C | ClinVar |
17 | g.17213705G>A | CA398529843 | FLCN,MPRIP | c.1690C>T (p.His564Tyr) c.*372+1280C>T (n.*372+1280C>T) c.562-3785G>A c.1744C>T (p.His582Tyr) c.1592+1280C>T (n.1592+1280C>T) c.1468C>T (p.His490Tyr) n.2960C>T n.2124C>T | ClinVar dbSNP |
17 | g.17213705G>C | CA398529844 | FLCN,MPRIP | c.1690C>G (p.His564Asp) c.*372+1280C>G (n.*372+1280C>G) c.562-3785G>C c.1744C>G (p.His582Asp) c.1592+1280C>G (n.1592+1280C>G) c.1468C>G (p.His490Asp) n.2960C>G n.2124C>G | |
17 | g.17213705G= | CA2250413531 | FLCN,MPRIP | c.1690C= (p.His564=) c.*372+1280C= (n.*372+1280C=) c.562-3785G= c.1744C= (p.His582=) c.1592+1280C= (n.1592+1280C=) c.1468C= (p.His490=) n.2960C= n.2124C= | |
17 | g.17213705G>T | CA398529845 | FLCN,MPRIP | c.1690C>A (p.His564Asn) c.*372+1280C>A (n.*372+1280C>A) c.562-3785G>T c.1744C>A (p.His582Asn) c.1592+1280C>A (n.1592+1280C>A) c.1468C>A (p.His490Asn) n.2960C>A n.2124C>A | |
17 | g.17213705_17213706delinsGT | CA2250413530 | FLCN,MPRIP | c.1689_1690delinsAC (p.Ser563=) c.*372+1279_*372+1280delinsAC (n.*372+1279_*372+1280delinsAC) c.562-3785_562-3784delinsGT c.1743_1744delinsAC (p.Ser581=) c.1592+1279_1592+1280delinsAC (n.1592+1279_1592+1280delinsAC) c.1467_1468delinsAC (p.Ser489=) n.2959_2960delinsAC n.2123_2124delinsAC | |
17 | g.17213706del | CA726582335 | FLCN,MPRIP | c.1689del (p.His564ThrfsTer24) c.*372+1279del (n.*372+1279del) c.562-3784del c.1743del (p.His582ThrfsTer24) c.1592+1279del (n.1592+1279del) c.1467del (p.His490ThrfsTer24) n.2959del c.1743del (p.His582ThrfsTer?) c.1689del (p.His564ThrfsTer?) n.2123del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.17213706T>A | CA498163054 | FLCN,MPRIP | c.1689A>T (p.Ser563=) c.*372+1279A>T (n.*372+1279A>T) c.562-3784T>A c.1743A>T (p.Ser581=) c.1592+1279A>T (n.1592+1279A>T) c.1467A>T (p.Ser489=) n.2959A>T n.2123A>T | |
17 | g.17213706T>C | CA498163053 | FLCN,MPRIP | c.1689A>G (p.Ser563=) c.*372+1279A>G (n.*372+1279A>G) c.562-3784T>C c.1743A>G (p.Ser581=) c.1592+1279A>G (n.1592+1279A>G) c.1467A>G (p.Ser489=) n.2959A>G n.2123A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.17213706T>G | CA498163052 | FLCN,MPRIP | c.1689A>C (p.Ser563=) c.*372+1279A>C (n.*372+1279A>C) c.562-3784T>G c.1743A>C (p.Ser581=) c.1592+1279A>C (n.1592+1279A>C) c.1467A>C (p.Ser489=) n.2959A>C n.2123A>C | dbSNP |
17 | g.17213706T= | CA2250413534 | FLCN,MPRIP | c.1689A= (p.Ser563=) c.*372+1279A= (n.*372+1279A=) c.562-3784T= c.1743A= (p.Ser581=) c.1592+1279A= (n.1592+1279A=) c.1467A= (p.Ser489=) n.2959A= n.2123A= | |
17 | g.17213707G>A | CA398529846 | FLCN,MPRIP | c.1688C>T (p.Ser563Leu) c.*372+1278C>T (n.*372+1278C>T) c.562-3783G>A c.1742C>T (p.Ser581Leu) c.1592+1278C>T (n.1592+1278C>T) c.1466C>T (p.Ser489Leu) n.2958C>T n.2122C>T | |
17 | g.17213707G>C | CA398529847 | FLCN,MPRIP | c.1688C>G (p.Ser563Ter) c.*372+1278C>G (n.*372+1278C>G) c.562-3783G>C c.1742C>G (p.Ser581Ter) c.1592+1278C>G (n.1592+1278C>G) c.1466C>G (p.Ser489Ter) n.2958C>G n.2122C>G | |
17 | g.17213707G>T | CA398529848 | FLCN,MPRIP | c.1688C>A (p.Ser563Ter) c.*372+1278C>A (n.*372+1278C>A) c.562-3783G>T c.1742C>A (p.Ser581Ter) c.1592+1278C>A (n.1592+1278C>A) c.1466C>A (p.Ser489Ter) n.2958C>A n.2122C>A | |
17 | g.17213708A>C | CA398529851 | FLCN,MPRIP | c.1687T>G (p.Ser563Ala) c.*372+1277T>G (n.*372+1277T>G) c.562-3782A>C c.1741T>G (p.Ser581Ala) c.1592+1277T>G (n.1592+1277T>G) c.1465T>G (p.Ser489Ala) n.2957T>G n.2121T>G | |
17 | g.17213708A>G | CA398529850 | FLCN,MPRIP | c.1687T>C (p.Ser563Pro) c.*372+1277T>C (n.*372+1277T>C) c.562-3782A>G c.1741T>C (p.Ser581Pro) c.1592+1277T>C (n.1592+1277T>C) c.1465T>C (p.Ser489Pro) n.2957T>C n.2121T>C | |
17 | g.17213708A>T | CA398529849 | FLCN,MPRIP | c.1687T>A (p.Ser563Thr) c.*372+1277T>A (n.*372+1277T>A) c.562-3782A>T c.1741T>A (p.Ser581Thr) c.1592+1277T>A (n.1592+1277T>A) c.1465T>A (p.Ser489Thr) n.2957T>A n.2121T>A | dbSNP |
17 | g.17213709C>A | CA398529852 | FLCN,MPRIP | c.1686G>T (p.Lys562Asn) c.*372+1276G>T (n.*372+1276G>T) c.562-3781C>A c.1740G>T (p.Lys580Asn) c.1592+1276G>T (n.1592+1276G>T) c.1464G>T (p.Lys488Asn) n.2956G>T n.2120G>T | |
17 | g.17213709C>G | CA398529853 | FLCN,MPRIP | c.1686G>C (p.Lys562Asn) c.*372+1276G>C (n.*372+1276G>C) c.562-3781C>G c.1740G>C (p.Lys580Asn) c.1592+1276G>C (n.1592+1276G>C) c.1464G>C (p.Lys488Asn) n.2956G>C n.2120G>C | dbSNP |
17 | g.17213709C>T | CA498163057 | FLCN,MPRIP | c.1686G>A (p.Lys562=) c.*372+1276G>A (n.*372+1276G>A) c.562-3781C>T c.1740G>A (p.Lys580=) c.1592+1276G>A (n.1592+1276G>A) c.1464G>A (p.Lys488=) n.2956G>A n.2120G>A | |
17 | g.17213710T>A | CA398529854 | FLCN,MPRIP | c.1685A>T (p.Lys562Met) c.*372+1275A>T (n.*372+1275A>T) c.562-3780T>A c.1739A>T (p.Lys580Met) c.1592+1275A>T (n.1592+1275A>T) c.1463A>T (p.Lys488Met) n.2955A>T n.2119A>T | |
17 | g.17213710T>C | CA8415917 | FLCN,MPRIP | c.1685A>G (p.Lys562Arg) c.*372+1275A>G (n.*372+1275A>G) c.562-3780T>C c.1739A>G (p.Lys580Arg) c.1592+1275A>G (n.1592+1275A>G) c.1463A>G (p.Lys488Arg) n.2955A>G n.2119A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.17213710T>G | CA398529855 | FLCN,MPRIP | c.1685A>C (p.Lys562Thr) c.*372+1275A>C (n.*372+1275A>C) c.562-3780T>G c.1739A>C (p.Lys580Thr) c.1592+1275A>C (n.1592+1275A>C) c.1463A>C (p.Lys488Thr) n.2955A>C n.2119A>C | |
17 | g.17213710T= | CA2250413539 | FLCN,MPRIP | c.1685A= (p.Lys562=) c.*372+1275A= (n.*372+1275A=) c.562-3780T= c.1739A= (p.Lys580=) c.1592+1275A= (n.1592+1275A=) c.1463A= (p.Lys488=) n.2955A= n.2119A= | |
17 | g.17213711T>A | CA398529856 | FLCN,MPRIP | c.1684A>T (p.Lys562Ter) c.*372+1274A>T (n.*372+1274A>T) c.562-3779T>A c.1738A>T (p.Lys580Ter) c.1592+1274A>T (n.1592+1274A>T) c.1462A>T (p.Lys488Ter) n.2954A>T n.2118A>T | |
17 | g.17213711T>C | CA398529857 | FLCN,MPRIP | c.1684A>G (p.Lys562Glu) c.*372+1274A>G (n.*372+1274A>G) c.562-3779T>C c.1738A>G (p.Lys580Glu) c.1592+1274A>G (n.1592+1274A>G) c.1462A>G (p.Lys488Glu) n.2954A>G n.2118A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17213711T>G | CA398529858 | FLCN,MPRIP | c.1684A>C (p.Lys562Gln) c.*372+1274A>C (n.*372+1274A>C) c.562-3779T>G c.1738A>C (p.Lys580Gln) c.1592+1274A>C (n.1592+1274A>C) c.1462A>C (p.Lys488Gln) n.2954A>C n.2118A>C | |
17 | g.17213711T= | CA2250413541 | FLCN,MPRIP | c.1684A= (p.Lys562=) c.*372+1274A= (n.*372+1274A=) c.562-3779T= c.1738A= (p.Lys580=) c.1592+1274A= (n.1592+1274A=) c.1462A= (p.Lys488=) n.2954A= n.2118A= | |
17 | g.17213712G>A | CA498163059 | FLCN,MPRIP | c.1683C>T (p.Tyr561=) c.*372+1273C>T (n.*372+1273C>T) c.562-3778G>A c.1737C>T (p.Tyr579=) c.1592+1273C>T (n.1592+1273C>T) c.1461C>T (p.Tyr487=) n.2953C>T n.2117C>T | |
17 | g.17213712G>C | CA398529859 | FLCN,MPRIP | c.1683C>G (p.Tyr561Ter) c.*372+1273C>G (n.*372+1273C>G) c.562-3778G>C c.1737C>G (p.Tyr579Ter) c.1592+1273C>G (n.1592+1273C>G) c.1461C>G (p.Tyr487Ter) n.2953C>G n.2117C>G | dbSNP |
17 | g.17213712G>T | CA398529860 | FLCN,MPRIP | c.1683C>A (p.Tyr561Ter) c.*372+1273C>A (n.*372+1273C>A) c.562-3778G>T c.1737C>A (p.Tyr579Ter) c.1592+1273C>A (n.1592+1273C>A) c.1461C>A (p.Tyr487Ter) n.2953C>A n.2117C>A | |
17 | g.17213713T>A | CA398529861 | FLCN,MPRIP | c.1682A>T (p.Tyr561Phe) c.*372+1272A>T (n.*372+1272A>T) c.562-3777T>A c.1736A>T (p.Tyr579Phe) c.1592+1272A>T (n.1592+1272A>T) c.1460A>T (p.Tyr487Phe) n.2952A>T n.2116A>T | ClinVar dbSNP gnomAD v4 |
17 | g.17213713T>C | CA398529862 | FLCN,MPRIP | c.1682A>G (p.Tyr561Cys) c.*372+1272A>G (n.*372+1272A>G) c.562-3777T>C c.1736A>G (p.Tyr579Cys) c.1592+1272A>G (n.1592+1272A>G) c.1460A>G (p.Tyr487Cys) n.2952A>G n.2116A>G | ClinVar gnomAD v4 |
17 | g.17213713T>G | CA398529863 | FLCN,MPRIP | c.1682A>C (p.Tyr561Ser) c.*372+1272A>C (n.*372+1272A>C) c.562-3777T>G c.1736A>C (p.Tyr579Ser) c.1592+1272A>C (n.1592+1272A>C) c.1460A>C (p.Tyr487Ser) n.2952A>C n.2116A>C | dbSNP |
17 | g.17213713T= | CA2250413543 | FLCN,MPRIP | c.1682A= (p.Tyr561=) c.*372+1272A= (n.*372+1272A=) c.562-3777T= c.1736A= (p.Tyr579=) c.1592+1272A= (n.1592+1272A=) c.1460A= (p.Tyr487=) n.2952A= n.2116A= | |
17 | g.17213714A>C | CA398529865 | FLCN,MPRIP | c.1681T>G (p.Tyr561Asp) c.*372+1271T>G (n.*372+1271T>G) c.562-3776A>C c.1735T>G (p.Tyr579Asp) c.1592+1271T>G (n.1592+1271T>G) c.1459T>G (p.Tyr487Asp) n.2951T>G n.2115T>G | |
17 | g.17213714A>G | CA398529866 | FLCN,MPRIP | c.1681T>C (p.Tyr561His) c.*372+1271T>C (n.*372+1271T>C) c.562-3776A>G c.1735T>C (p.Tyr579His) c.1592+1271T>C (n.1592+1271T>C) c.1459T>C (p.Tyr487His) n.2951T>C n.2115T>C | dbSNP |
17 | g.17213714A>T | CA398529864 | FLCN,MPRIP | c.1681T>A (p.Tyr561Asn) c.*372+1271T>A (n.*372+1271T>A) c.562-3776A>T c.1735T>A (p.Tyr579Asn) c.1592+1271T>A (n.1592+1271T>A) c.1459T>A (p.Tyr487Asn) n.2951T>A n.2115T>A | dbSNP |
17 | g.17213715G>A | CA498163064 | FLCN,MPRIP | c.1680C>T (p.Thr560=) c.*372+1270C>T (n.*372+1270C>T) c.562-3775G>A c.1734C>T (p.Thr578=) c.1592+1270C>T (n.1592+1270C>T) c.1458C>T (p.Thr486=) n.2950C>T n.2114C>T | |
17 | g.17213715G>C | CA498163063 | FLCN,MPRIP | c.1680C>G (p.Thr560=) c.*372+1270C>G (n.*372+1270C>G) c.562-3775G>C c.1734C>G (p.Thr578=) c.1592+1270C>G (n.1592+1270C>G) c.1458C>G (p.Thr486=) n.2950C>G n.2114C>G | dbSNP gnomAD v4 |
17 | g.17213715G>T | CA498163062 | FLCN,MPRIP | c.1680C>A (p.Thr560=) c.*372+1270C>A (n.*372+1270C>A) c.562-3775G>T c.1734C>A (p.Thr578=) c.1592+1270C>A (n.1592+1270C>A) c.1458C>A (p.Thr486=) n.2950C>A n.2114C>A | dbSNP |
17 | g.17213716G>A | CA398529868 | FLCN,MPRIP | c.1679C>T (p.Thr560Ile) c.*372+1269C>T (n.*372+1269C>T) c.562-3774G>A c.1733C>T (p.Thr578Ile) c.1592+1269C>T (n.1592+1269C>T) c.1457C>T (p.Thr486Ile) n.2949C>T n.2113C>T | ClinVar dbSNP |
17 | g.17213716G>C | CA398529867 | FLCN,MPRIP | c.1679C>G (p.Thr560Ser) c.*372+1269C>G (n.*372+1269C>G) c.562-3774G>C c.1733C>G (p.Thr578Ser) c.1592+1269C>G (n.1592+1269C>G) c.1457C>G (p.Thr486Ser) n.2949C>G n.2113C>G | |
17 | g.17213716G= | CA2250413546 | FLCN,MPRIP | c.1679C= (p.Thr560=) c.*372+1269C= (n.*372+1269C=) c.562-3774G= c.1733C= (p.Thr578=) c.1592+1269C= (n.1592+1269C=) c.1457C= (p.Thr486=) n.2949C= n.2113C= | |
17 | g.17213716G>T | CA398529869 | FLCN,MPRIP | c.1679C>A (p.Thr560Asn) c.*372+1269C>A (n.*372+1269C>A) c.562-3774G>T c.1733C>A (p.Thr578Asn) c.1592+1269C>A (n.1592+1269C>A) c.1457C>A (p.Thr486Asn) n.2949C>A n.2113C>A | dbSNP gnomAD v4 |
17 | g.17213717T>A | CA398529870 | FLCN,MPRIP | c.1678A>T (p.Thr560Ser) c.*372+1268A>T (n.*372+1268A>T) c.562-3773T>A c.1732A>T (p.Thr578Ser) c.1592+1268A>T (n.1592+1268A>T) c.1456A>T (p.Thr486Ser) n.2948A>T n.2112A>T | dbSNP |
17 | g.17213717T>C | CA398529872 | FLCN,MPRIP | c.1678A>G (p.Thr560Ala) c.*372+1268A>G (n.*372+1268A>G) c.562-3773T>C c.1732A>G (p.Thr578Ala) c.1592+1268A>G (n.1592+1268A>G) c.1456A>G (p.Thr486Ala) n.2948A>G n.2112A>G | gnomAD v4 |
17 | g.17213717T>G | CA398529871 | FLCN,MPRIP | c.1678A>C (p.Thr560Pro) c.*372+1268A>C (n.*372+1268A>C) c.562-3773T>G c.1732A>C (p.Thr578Pro) c.1592+1268A>C (n.1592+1268A>C) c.1456A>C (p.Thr486Pro) n.2948A>C n.2112A>C | dbSNP |
17 | g.17213718C>A | CA398529873 | FLCN,MPRIP | c.1677G>T (p.Lys559Asn) c.*372+1267G>T (n.*372+1267G>T) c.562-3772C>A c.1731G>T (p.Lys577Asn) c.1592+1267G>T (n.1592+1267G>T) c.1455G>T (p.Lys485Asn) n.2947G>T n.2111G>T | ClinVar dbSNP |
17 | g.17213718C= | CA2250413549 | FLCN,MPRIP | c.1677G= (p.Lys559=) c.*372+1267G= (n.*372+1267G=) c.562-3772C= c.1731G= (p.Lys577=) c.1592+1267G= (n.1592+1267G=) c.1455G= (p.Lys485=) n.2947G= n.2111G= | |
17 | g.17213718C>G | CA398529874 | FLCN,MPRIP | c.1677G>C (p.Lys559Asn) c.*372+1267G>C (n.*372+1267G>C) c.562-3772C>G c.1731G>C (p.Lys577Asn) c.1592+1267G>C (n.1592+1267G>C) c.1455G>C (p.Lys485Asn) n.2947G>C n.2111G>C | dbSNP |
17 | g.17213718C>T | CA8415918 | FLCN,MPRIP | c.1677G>A (p.Lys559=) c.*372+1267G>A (n.*372+1267G>A) c.562-3772C>T c.1731G>A (p.Lys577=) c.1592+1267G>A (n.1592+1267G>A) c.1455G>A (p.Lys485=) n.2947G>A n.2111G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.17213719T>A | CA398529875 | FLCN,MPRIP | c.1676A>T (p.Lys559Met) c.*372+1266A>T (n.*372+1266A>T) c.562-3771T>A c.1730A>T (p.Lys577Met) c.1592+1266A>T (n.1592+1266A>T) c.1454A>T (p.Lys485Met) n.2946A>T n.2110A>T | |
17 | g.17213719T>C | CA398529876 | FLCN,MPRIP | c.1676A>G (p.Lys559Arg) c.*372+1266A>G (n.*372+1266A>G) c.562-3771T>C c.1730A>G (p.Lys577Arg) c.1592+1266A>G (n.1592+1266A>G) c.1454A>G (p.Lys485Arg) n.2946A>G n.2110A>G | ClinVar dbSNP |
17 | g.17213719T>G | CA398529877 | FLCN,MPRIP | c.1676A>C (p.Lys559Thr) c.*372+1266A>C (n.*372+1266A>C) c.562-3771T>G c.1730A>C (p.Lys577Thr) c.1592+1266A>C (n.1592+1266A>C) c.1454A>C (p.Lys485Thr) n.2946A>C n.2110A>C | |
17 | g.17213720T>A | CA398529878 | FLCN,MPRIP | c.1675A>T (p.Lys559Ter) c.*372+1265A>T (n.*372+1265A>T) c.562-3770T>A c.1729A>T (p.Lys577Ter) c.1592+1265A>T (n.1592+1265A>T) c.1453A>T (p.Lys485Ter) n.2945A>T n.2109A>T | |
17 | g.17213720T>C | CA398529879 | FLCN,MPRIP | c.1675A>G (p.Lys559Glu) c.*372+1265A>G (n.*372+1265A>G) c.562-3770T>C c.1729A>G (p.Lys577Glu) c.1592+1265A>G (n.1592+1265A>G) c.1453A>G (p.Lys485Glu) n.2945A>G n.2109A>G | |
17 | g.17213720T>G | CA398529880 | FLCN,MPRIP | c.1675A>C (p.Lys559Gln) c.*372+1265A>C (n.*372+1265A>C) c.562-3770T>G c.1729A>C (p.Lys577Gln) c.1592+1265A>C (n.1592+1265A>C) c.1453A>C (p.Lys485Gln) n.2945A>C n.2109A>C | |
17 | g.17213721G>A | CA498163067 | FLCN,MPRIP | c.1674C>T (p.Ser558=) c.*372+1264C>T (n.*372+1264C>T) c.562-3769G>A c.1728C>T (p.Ser576=) c.1592+1264C>T (n.1592+1264C>T) c.1452C>T (p.Ser484=) n.2944C>T n.2108C>T | ClinVar dbSNP |
17 | g.17213721G>C | CA398529881 | FLCN,MPRIP | c.1674C>G (p.Ser558Arg) c.*372+1264C>G (n.*372+1264C>G) c.562-3769G>C c.1728C>G (p.Ser576Arg) c.1592+1264C>G (n.1592+1264C>G) c.1452C>G (p.Ser484Arg) n.2944C>G n.2108C>G | dbSNP |
17 | g.17213721G>T | CA398529882 | FLCN,MPRIP | c.1674C>A (p.Ser558Arg) c.*372+1264C>A (n.*372+1264C>A) c.562-3769G>T c.1728C>A (p.Ser576Arg) c.1592+1264C>A (n.1592+1264C>A) c.1452C>A (p.Ser484Arg) n.2944C>A n.2108C>A | |
17 | g.17213722C>A | CA398529883 | FLCN,MPRIP | c.1673G>T (p.Ser558Ile) c.*372+1263G>T (n.*372+1263G>T) c.562-3768C>A c.1727G>T (p.Ser576Ile) c.1592+1263G>T (n.1592+1263G>T) c.1451G>T (p.Ser484Ile) n.2943G>T n.2107G>T | dbSNP |
17 | g.17213722C>G | CA398529884 | FLCN,MPRIP | c.1673G>C (p.Ser558Thr) c.*372+1263G>C (n.*372+1263G>C) c.562-3768C>G c.1727G>C (p.Ser576Thr) c.1592+1263G>C (n.1592+1263G>C) c.1451G>C (p.Ser484Thr) n.2943G>C n.2107G>C | dbSNP |
17 | g.17213722C>T | CA398529885 | FLCN,MPRIP | c.1673G>A (p.Ser558Asn) c.*372+1263G>A (n.*372+1263G>A) c.562-3768C>T c.1727G>A (p.Ser576Asn) c.1592+1263G>A (n.1592+1263G>A) c.1451G>A (p.Ser484Asn) n.2943G>A n.2107G>A | dbSNP |
17 | g.17213723T>A | CA398529888 | FLCN,MPRIP | c.1672A>T (p.Ser558Cys) c.*372+1262A>T (n.*372+1262A>T) c.562-3767T>A c.1726A>T (p.Ser576Cys) c.1592+1262A>T (n.1592+1262A>T) c.1450A>T (p.Ser484Cys) n.2942A>T n.2106A>T | ClinVar |
17 | g.17213723T>C | CA398529886 | FLCN,MPRIP | c.1672A>G (p.Ser558Gly) c.*372+1262A>G (n.*372+1262A>G) c.562-3767T>C c.1726A>G (p.Ser576Gly) c.1592+1262A>G (n.1592+1262A>G) c.1450A>G (p.Ser484Gly) n.2942A>G n.2106A>G | dbSNP |
17 | g.17213723T>G | CA398529887 | FLCN,MPRIP | c.1672A>C (p.Ser558Arg) c.*372+1262A>C (n.*372+1262A>C) c.562-3767T>G c.1726A>C (p.Ser576Arg) c.1592+1262A>C (n.1592+1262A>C) c.1450A>C (p.Ser484Arg) n.2942A>C n.2106A>C | dbSNP |
17 | g.17213723T= | CA2250413552 | FLCN,MPRIP | c.1672A= (p.Ser558=) c.*372+1262A= (n.*372+1262A=) c.562-3767T= c.1726A= (p.Ser576=) c.1592+1262A= (n.1592+1262A=) c.1450A= (p.Ser484=) n.2942A= n.2106A= | |
17 | g.17213724C>A | CA498163072 | FLCN,MPRIP | c.1671G>T (p.Leu557=) c.*372+1261G>T (n.*372+1261G>T) c.562-3766C>A c.1725G>T (p.Leu575=) c.1592+1261G>T (n.1592+1261G>T) c.1449G>T (p.Leu483=) n.2941G>T n.2105G>T | dbSNP |
17 | g.17213724C>G | CA498163073 | FLCN,MPRIP | c.1671G>C (p.Leu557=) c.*372+1261G>C (n.*372+1261G>C) c.562-3766C>G c.1725G>C (p.Leu575=) c.1592+1261G>C (n.1592+1261G>C) c.1449G>C (p.Leu483=) n.2941G>C n.2105G>C | ClinVar dbSNP |
17 | g.17213724C>T | CA498163074 | FLCN,MPRIP | c.1671G>A (p.Leu557=) c.*372+1261G>A (n.*372+1261G>A) c.562-3766C>T c.1725G>A (p.Leu575=) c.1592+1261G>A (n.1592+1261G>A) c.1449G>A (p.Leu483=) n.2941G>A n.2105G>A | ClinVar dbSNP gnomAD v4 |
17 | g.17213725A>C | CA398529889 | FLCN,MPRIP | c.1670T>G (p.Leu557Arg) c.*372+1260T>G (n.*372+1260T>G) c.562-3765A>C c.1724T>G (p.Leu575Arg) c.1592+1260T>G (n.1592+1260T>G) c.1448T>G (p.Leu483Arg) n.2940T>G n.2104T>G | |
17 | g.17213725A>G | CA398529890 | FLCN,MPRIP | c.1670T>C (p.Leu557Pro) c.*372+1260T>C (n.*372+1260T>C) c.562-3765A>G c.1724T>C (p.Leu575Pro) c.1592+1260T>C (n.1592+1260T>C) c.1448T>C (p.Leu483Pro) n.2940T>C n.2104T>C | dbSNP |
17 | g.17213725A>T | CA398529891 | FLCN,MPRIP | c.1670T>A (p.Leu557Gln) c.*372+1260T>A (n.*372+1260T>A) c.562-3765A>T c.1724T>A (p.Leu575Gln) c.1592+1260T>A (n.1592+1260T>A) c.1448T>A (p.Leu483Gln) n.2940T>A n.2104T>A | dbSNP |
17 | g.17213726G>A | CA10583450 | FLCN,MPRIP | c.1669C>T (p.Leu557=) c.*372+1259C>T (n.*372+1259C>T) c.562-3764G>A c.1723C>T (p.Leu575=) c.1592+1259C>T (n.1592+1259C>T) c.1447C>T (p.Leu483=) n.2939C>T n.2103C>T | ClinVar dbSNP |
17 | g.17213726G>C | CA398529892 | FLCN,MPRIP | c.1669C>G (p.Leu557Val) c.*372+1259C>G (n.*372+1259C>G) c.562-3764G>C c.1723C>G (p.Leu575Val) c.1592+1259C>G (n.1592+1259C>G) c.1447C>G (p.Leu483Val) n.2939C>G n.2103C>G | |
17 | g.17213726G= | CA2250413554 | FLCN,MPRIP | c.1669C= (p.Leu557=) c.*372+1259C= (n.*372+1259C=) c.562-3764G= c.1723C= (p.Leu575=) c.1592+1259C= (n.1592+1259C=) c.1447C= (p.Leu483=) n.2939C= n.2103C= | |
17 | g.17213726G>T | CA398529893 | FLCN,MPRIP | c.1669C>A (p.Leu557Met) c.*372+1259C>A (n.*372+1259C>A) c.562-3764G>T c.1723C>A (p.Leu575Met) c.1592+1259C>A (n.1592+1259C>A) c.1447C>A (p.Leu483Met) n.2939C>A n.2103C>A | dbSNP |
17 | g.17213727G>A | CA498163075 | FLCN,MPRIP | c.1668C>T (p.Gly556=) c.*372+1258C>T (n.*372+1258C>T) c.562-3763G>A c.1722C>T (p.Gly574=) c.1592+1258C>T (n.1592+1258C>T) c.1446C>T (p.Gly482=) n.2938C>T n.2102C>T | ClinVar |
17 | g.17213727G>C | CA498163076 | FLCN,MPRIP | c.1668C>G (p.Gly556=) c.*372+1258C>G (n.*372+1258C>G) c.562-3763G>C c.1722C>G (p.Gly574=) c.1592+1258C>G (n.1592+1258C>G) c.1446C>G (p.Gly482=) n.2938C>G n.2102C>G | |
17 | g.17213727G= | CA2250413555 | FLCN,MPRIP | c.1668C= (p.Gly556=) c.*372+1258C= (n.*372+1258C=) c.562-3763G= c.1722C= (p.Gly574=) c.1592+1258C= (n.1592+1258C=) c.1446C= (p.Gly482=) n.2938C= n.2102C= | |
17 | g.17213727G>T | CA498163077 | FLCN,MPRIP | c.1668C>A (p.Gly556=) c.*372+1258C>A (n.*372+1258C>A) c.562-3763G>T c.1722C>A (p.Gly574=) c.1592+1258C>A (n.1592+1258C>A) c.1446C>A (p.Gly482=) n.2938C>A n.2102C>A | dbSNP |
17 | g.17213727_17213728delinsGC | CA2250413556 | FLCN,MPRIP | c.1667_1668delinsGC (p.Gly556=) c.*372+1257_*372+1258delinsGC (n.*372+1257_*372+1258delinsGC) c.562-3763_562-3762delinsGC c.1721_1722delinsGC (p.Gly574=) c.1592+1257_1592+1258delinsGC (n.1592+1257_1592+1258delinsGC) c.1445_1446delinsGC (p.Gly482=) n.2937_2938delinsGC n.2101_2102delinsGC | |
17 | g.17213727_17213728insT | CA8415919 | FLCN,MPRIP | c.1667_1668insA (p.Leu557ProfsTer?) c.*372+1257_*372+1258insA (n.*372+1257_*372+1258insA) c.562-3763_562-3762insT c.1721_1722insA (p.Leu575ProfsTer?) c.1592+1257_1592+1258insA (n.1592+1257_1592+1258insA) c.1445_1446insA (p.Leu483ProfsTer?) n.2937_2938insA n.2101_2102insA | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.17213728C>A | CA398529894 | FLCN,MPRIP | c.1667G>T (p.Gly556Val) c.*372+1257G>T (n.*372+1257G>T) c.562-3762C>A c.1721G>T (p.Gly574Val) c.1592+1257G>T (n.1592+1257G>T) c.1445G>T (p.Gly482Val) n.2937G>T n.2101G>T | dbSNP |
17 | g.17213728C= | CA2250413562 | FLCN,MPRIP | c.1667G= (p.Gly556=) c.*372+1257G= (n.*372+1257G=) c.562-3762C= c.1721G= (p.Gly574=) c.1592+1257G= (n.1592+1257G=) c.1445G= (p.Gly482=) n.2937G= n.2101G= | |
17 | g.17213728C>G | CA8415920 | FLCN,MPRIP | c.1667G>C (p.Gly556Ala) c.*372+1257G>C (n.*372+1257G>C) c.562-3762C>G c.1721G>C (p.Gly574Ala) c.1592+1257G>C (n.1592+1257G>C) c.1445G>C (p.Gly482Ala) n.2937G>C n.2101G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.17213728C>T | CA398529895 | FLCN,MPRIP | c.1667G>A (p.Gly556Asp) c.*372+1257G>A (n.*372+1257G>A) c.562-3762C>T c.1721G>A (p.Gly574Asp) c.1592+1257G>A (n.1592+1257G>A) c.1445G>A (p.Gly482Asp) n.2937G>A n.2101G>A | dbSNP |
17 | g.17213729del | CA625014830 | FLCN,MPRIP | c.1667del (p.Gly556AlafsTer2) c.*372+1257del (n.*372+1257del) c.562-3761del c.1721del (p.Gly574AlafsTer2) c.1592+1257del (n.1592+1257del) c.1445del (p.Gly482AlafsTer2) n.2937del n.2101del | dbSNP gnomAD v2 gnomAD v4 |
17 | g.17213729C>A | CA398529898 | FLCN,MPRIP | c.1666G>T (p.Gly556Cys) c.*372+1256G>T (n.*372+1256G>T) c.562-3761C>A c.1720G>T (p.Gly574Cys) c.1592+1256G>T (n.1592+1256G>T) c.1444G>T (p.Gly482Cys) n.2936G>T n.2100G>T | dbSNP |
17 | g.17213729C= | CA2250413566 | FLCN,MPRIP | c.1666G= (p.Gly556=) c.*372+1256G= (n.*372+1256G=) c.562-3761C= c.1720G= (p.Gly574=) c.1592+1256G= (n.1592+1256G=) c.1444G= (p.Gly482=) n.2936G= n.2100G= | |
17 | g.17213729C>G | CA398529897 | FLCN,MPRIP | c.1666G>C (p.Gly556Arg) c.*372+1256G>C (n.*372+1256G>C) c.562-3761C>G c.1720G>C (p.Gly574Arg) c.1592+1256G>C (n.1592+1256G>C) c.1444G>C (p.Gly482Arg) n.2936G>C n.2100G>C | |
17 | g.17213729C>T | CA398529896 | FLCN,MPRIP | c.1666G>A (p.Gly556Ser) c.*372+1256G>A (n.*372+1256G>A) c.562-3761C>T c.1720G>A (p.Gly574Ser) c.1592+1256G>A (n.1592+1256G>A) c.1444G>A (p.Gly482Ser) n.2936G>A n.2100G>A | |
17 | g.17213730A>C | CA498163079 | FLCN,MPRIP | c.1665T>G (p.Thr555=) c.*372+1255T>G (n.*372+1255T>G) c.562-3760A>C c.1719T>G (p.Thr573=) c.1592+1255T>G (n.1592+1255T>G) c.1443T>G (p.Thr481=) n.2935T>G n.2099T>G | |
17 | g.17213730A>G | CA498163080 | FLCN,MPRIP | c.1665T>C (p.Thr555=) c.*372+1255T>C (n.*372+1255T>C) c.562-3760A>G c.1719T>C (p.Thr573=) c.1592+1255T>C (n.1592+1255T>C) c.1443T>C (p.Thr481=) n.2935T>C n.2099T>C | gnomAD v4 |
17 | g.17213730A>T | CA498163081 | FLCN,MPRIP | c.1665T>A (p.Thr555=) c.*372+1255T>A (n.*372+1255T>A) c.562-3760A>T c.1719T>A (p.Thr573=) c.1592+1255T>A (n.1592+1255T>A) c.1443T>A (p.Thr481=) n.2935T>A n.2099T>A | dbSNP |
17 | g.17213731_17213732insACCTTCAGCAGCTTGACATTGTCCTCTGAAG | CA2250413567 | FLCN,MPRIP | c.1665_1666insTCAGAGGACAATGTCAAGCTGCTGAAGGTCT (p.Gly556SerfsTer?) c.*372+1255_*372+1256insTCAGAGGACAATGTCAAGCTGCTGAAGGTCT (n.*372+1255_*372+1256insTCAGAGGACAATGTCAAGCTGCTGAAGGTCT) c.562-3759_562-3758insACCTTCAGCAGCTTGACATTGTCCTCTGAAG c.1719_1720insTCAGAGGACAATGTCAAGCTGCTGAAGGTCT (p.Gly574SerfsTer?) c.1592+1255_1592+1256insTCAGAGGACAATGTCAAGCTGCTGAAGGTCT (n.1592+1255_1592+1256insTCAGAGGACAATGTCAAGCTGCTGAAGGTCT) c.1443_1444insTCAGAGGACAATGTCAAGCTGCTGAAGGTCT (p.Gly482SerfsTer?) n.2935_2936insTCAGAGGACAATGTCAAGCTGCTGAAGGTCT n.2099_2100insTCAGAGGACAATGTCAAGCTGCTGAAGGTCT | ClinVar dbSNP gnomAD v4 |
17 | g.17213731G>A | CA398529899 | FLCN,MPRIP | c.1664C>T (p.Thr555Ile) c.*372+1254C>T (n.*372+1254C>T) c.562-3759G>A c.1718C>T (p.Thr573Ile) c.1592+1254C>T (n.1592+1254C>T) c.1442C>T (p.Thr481Ile) n.2934C>T n.2098C>T | dbSNP |
17 | g.17213731G>C | CA398529900 | FLCN,MPRIP | c.1664C>G (p.Thr555Ser) c.*372+1254C>G (n.*372+1254C>G) c.562-3759G>C c.1718C>G (p.Thr573Ser) c.1592+1254C>G (n.1592+1254C>G) c.1442C>G (p.Thr481Ser) n.2934C>G n.2098C>G | dbSNP |
17 | g.17213731G>T | CA398529901 | FLCN,MPRIP | c.1664C>A (p.Thr555Asn) c.*372+1254C>A (n.*372+1254C>A) c.562-3759G>T c.1718C>A (p.Thr573Asn) c.1592+1254C>A (n.1592+1254C>A) c.1442C>A (p.Thr481Asn) n.2934C>A n.2098C>A | |
17 | g.17213732T>A | CA398529902 | FLCN,MPRIP | c.1663A>T (p.Thr555Ser) c.*372+1253A>T (n.*372+1253A>T) c.562-3758T>A c.1717A>T (p.Thr573Ser) c.1592+1253A>T (n.1592+1253A>T) c.1441A>T (p.Thr481Ser) n.2933A>T n.2097A>T | dbSNP |
17 | g.17213732T>C | CA398529903 | FLCN,MPRIP | c.1663A>G (p.Thr555Ala) c.*372+1253A>G (n.*372+1253A>G) c.562-3758T>C c.1717A>G (p.Thr573Ala) c.1592+1253A>G (n.1592+1253A>G) c.1441A>G (p.Thr481Ala) n.2933A>G n.2097A>G | |
17 | g.17213732T>G | CA398529904 | FLCN,MPRIP | c.1663A>C (p.Thr555Pro) c.*372+1253A>C (n.*372+1253A>C) c.562-3758T>G c.1717A>C (p.Thr573Pro) c.1592+1253A>C (n.1592+1253A>C) c.1441A>C (p.Thr481Pro) n.2933A>C n.2097A>C | ClinVar |
17 | g.17213733C>A | CA398529905 | FLCN,MPRIP | c.1662G>T (p.Met554Ile) c.*372+1252G>T (n.*372+1252G>T) c.562-3757C>A c.1716G>T (p.Met572Ile) c.1592+1252G>T (n.1592+1252G>T) c.1440G>T (p.Met480Ile) n.2932G>T n.2096G>T | dbSNP |
17 | g.17213733C>G | CA398529906 | FLCN,MPRIP | c.1662G>C (p.Met554Ile) c.*372+1252G>C (n.*372+1252G>C) c.562-3757C>G c.1716G>C (p.Met572Ile) c.1592+1252G>C (n.1592+1252G>C) c.1440G>C (p.Met480Ile) n.2932G>C n.2096G>C | |
17 | g.17213733C>T | CA398529907 | FLCN,MPRIP | c.1662G>A (p.Met554Ile) c.*372+1252G>A (n.*372+1252G>A) c.562-3757C>T c.1716G>A (p.Met572Ile) c.1592+1252G>A (n.1592+1252G>A) c.1440G>A (p.Met480Ile) n.2932G>A n.2096G>A | dbSNP COSMIC |
17 | g.17213734A>C | CA398529908 | FLCN,MPRIP | c.1661T>G (p.Met554Arg) c.*372+1251T>G (n.*372+1251T>G) c.562-3756A>C c.1715T>G (p.Met572Arg) c.1592+1251T>G (n.1592+1251T>G) c.1439T>G (p.Met480Arg) n.2931T>G n.2095T>G | dbSNP |
17 | g.17213734A>G | CA398529909 | FLCN,MPRIP | c.1661T>C (p.Met554Thr) c.*372+1251T>C (n.*372+1251T>C) c.562-3756A>G c.1715T>C (p.Met572Thr) c.1592+1251T>C (n.1592+1251T>C) c.1439T>C (p.Met480Thr) n.2931T>C n.2095T>C | |
17 | g.17213734A>T | CA398529910 | FLCN,MPRIP | c.1661T>A (p.Met554Lys) c.*372+1251T>A (n.*372+1251T>A) c.562-3756A>T c.1715T>A (p.Met572Lys) c.1592+1251T>A (n.1592+1251T>A) c.1439T>A (p.Met480Lys) n.2931T>A n.2095T>A | |
17 | g.17213735T>A | CA398529913 | FLCN,MPRIP | c.1660A>T (p.Met554Leu) c.*372+1250A>T (n.*372+1250A>T) c.562-3755T>A c.1714A>T (p.Met572Leu) c.1592+1250A>T (n.1592+1250A>T) c.1438A>T (p.Met480Leu) n.2930A>T n.2094A>T | |
17 | g.17213735T>C | CA398529911 | FLCN,MPRIP | c.1660A>G (p.Met554Val) c.*372+1250A>G (n.*372+1250A>G) c.562-3755T>C c.1714A>G (p.Met572Val) c.1592+1250A>G (n.1592+1250A>G) c.1438A>G (p.Met480Val) n.2930A>G n.2094A>G | |
17 | g.17213735T>G | CA398529912 | FLCN,MPRIP | c.1660A>C (p.Met554Leu) c.*372+1250A>C (n.*372+1250A>C) c.562-3755T>G c.1714A>C (p.Met572Leu) c.1592+1250A>C (n.1592+1250A>C) c.1438A>C (p.Met480Leu) n.2930A>C n.2094A>C | |
17 | g.17213736C>A | CA398529914 | FLCN,MPRIP | c.1659G>T (p.Trp553Cys) c.*372+1249G>T (n.*372+1249G>T) c.562-3754C>A c.1713G>T (p.Trp571Cys) c.1592+1249G>T (n.1592+1249G>T) c.1437G>T (p.Trp479Cys) n.2929G>T n.2093G>T | |
17 | g.17213736C>G | CA398529915 | FLCN,MPRIP | c.1659G>C (p.Trp553Cys) c.*372+1249G>C (n.*372+1249G>C) c.562-3754C>G c.1713G>C (p.Trp571Cys) c.1592+1249G>C (n.1592+1249G>C) c.1437G>C (p.Trp479Cys) n.2929G>C n.2093G>C | dbSNP |
17 | g.17213736C>T | CA398529916 | FLCN,MPRIP | c.1659G>A (p.Trp553Ter) c.*372+1249G>A (n.*372+1249G>A) c.562-3754C>T c.1713G>A (p.Trp571Ter) c.1592+1249G>A (n.1592+1249G>A) c.1437G>A (p.Trp479Ter) n.2929G>A n.2093G>A | dbSNP |
17 | g.17213737C>A | CA398529917 | FLCN,MPRIP | c.1658G>T (p.Trp553Leu) c.*372+1248G>T (n.*372+1248G>T) c.562-3753C>A c.1712G>T (p.Trp571Leu) c.1592+1248G>T (n.1592+1248G>T) c.1436G>T (p.Trp479Leu) n.2928G>T n.2092G>T | dbSNP |
17 | g.17213737C= | CA2250413570 | FLCN,MPRIP | c.1658G= (p.Trp553=) c.*372+1248G= (n.*372+1248G=) c.562-3753C= c.1712G= (p.Trp571=) c.1592+1248G= (n.1592+1248G=) c.1436G= (p.Trp479=) n.2928G= n.2092G= | |
17 | g.17213737C>G | CA398529918 | FLCN,MPRIP | c.1658G>C (p.Trp553Ser) c.*372+1248G>C (n.*372+1248G>C) c.562-3753C>G c.1712G>C (p.Trp571Ser) c.1592+1248G>C (n.1592+1248G>C) c.1436G>C (p.Trp479Ser) n.2928G>C n.2092G>C | |
17 | g.17213737C>T | CA10586245 | FLCN,MPRIP | c.1658G>A (p.Trp553Ter) c.*372+1248G>A (n.*372+1248G>A) c.562-3753C>T c.1712G>A (p.Trp571Ter) c.1592+1248G>A (n.1592+1248G>A) c.1436G>A (p.Trp479Ter) n.2928G>A n.2092G>A | ClinVar dbSNP |
17 | g.17213740_17213750del | CA2695224528 | FLCN,MPRIP | c.1648_1658del (p.Leu550AspfsTer?) c.*372+1238_*372+1248del (n.*372+1238_*372+1248del) c.562-3750_562-3740del c.1702_1712del (p.Leu568AspfsTer?) c.1592+1238_1592+1248del (n.1592+1238_1592+1248del) c.1426_1436del (p.Leu476AspfsTer?) n.2918_2928del n.2082_2092del | |
17 | g.17213738A= | CA2250413575 | FLCN,MPRIP | c.1657T= (p.Trp553=) c.*372+1247T= (n.*372+1247T=) c.562-3752A= c.1711T= (p.Trp571=) c.1592+1247T= (n.1592+1247T=) c.1435T= (p.Trp479=) n.2927T= n.2091T= | |
17 | g.17213738A>C | CA398529919 | FLCN,MPRIP | c.1657T>G (p.Trp553Gly) c.*372+1247T>G (n.*372+1247T>G) c.562-3752A>C c.1711T>G (p.Trp571Gly) c.1592+1247T>G (n.1592+1247T>G) c.1435T>G (p.Trp479Gly) n.2927T>G n.2091T>G | |
17 | g.17213738A>G | CA398529920 | FLCN,MPRIP | c.1657T>C (p.Trp553Arg) c.*372+1247T>C (n.*372+1247T>C) c.562-3752A>G c.1711T>C (p.Trp571Arg) c.1592+1247T>C (n.1592+1247T>C) c.1435T>C (p.Trp479Arg) n.2927T>C n.2091T>C | ClinVar dbSNP gnomAD v4 |
17 | g.17213738A>T | CA398529921 | FLCN,MPRIP | c.1657T>A (p.Trp553Arg) c.*372+1247T>A (n.*372+1247T>A) c.562-3752A>T c.1711T>A (p.Trp571Arg) c.1592+1247T>A (n.1592+1247T>A) c.1435T>A (p.Trp479Arg) n.2927T>A n.2091T>A | |
17 | g.17213739G>A | CA498163082 | FLCN,MPRIP | c.1656C>T (p.Phe552=) c.*372+1246C>T (n.*372+1246C>T) c.562-3751G>A c.1710C>T (p.Phe570=) c.1592+1246C>T (n.1592+1246C>T) c.1434C>T (p.Phe478=) n.2926C>T n.2090C>T | ClinVar dbSNP gnomAD v4 |
17 | g.17213739G>C | CA398529922 | FLCN,MPRIP | c.1656C>G (p.Phe552Leu) c.*372+1246C>G (n.*372+1246C>G) c.562-3751G>C c.1710C>G (p.Phe570Leu) c.1592+1246C>G (n.1592+1246C>G) c.1434C>G (p.Phe478Leu) n.2926C>G n.2090C>G | dbSNP |
17 | g.17213739G>T | CA398529923 | FLCN,MPRIP | c.1656C>A (p.Phe552Leu) c.*372+1246C>A (n.*372+1246C>A) c.562-3751G>T c.1710C>A (p.Phe570Leu) c.1592+1246C>A (n.1592+1246C>A) c.1434C>A (p.Phe478Leu) n.2926C>A n.2090C>A | ClinVar |
17 | g.17213740A>C | CA398529925 | FLCN,MPRIP | c.1655T>G (p.Phe552Cys) c.*372+1245T>G (n.*372+1245T>G) c.562-3750A>C c.1709T>G (p.Phe570Cys) c.1592+1245T>G (n.1592+1245T>G) c.1433T>G (p.Phe478Cys) n.2925T>G n.2089T>G | |
17 | g.17213740A>G | CA398529926 | FLCN,MPRIP | c.1655T>C (p.Phe552Ser) c.*372+1245T>C (n.*372+1245T>C) c.562-3750A>G c.1709T>C (p.Phe570Ser) c.1592+1245T>C (n.1592+1245T>C) c.1433T>C (p.Phe478Ser) n.2925T>C n.2089T>C | |
17 | g.17213740A>T | CA398529924 | FLCN,MPRIP | c.1655T>A (p.Phe552Tyr) c.*372+1245T>A (n.*372+1245T>A) c.562-3750A>T c.1709T>A (p.Phe570Tyr) c.1592+1245T>A (n.1592+1245T>A) c.1433T>A (p.Phe478Tyr) n.2925T>A n.2089T>A | ClinVar dbSNP |
17 | g.17213741A>C | CA398529927 | FLCN,MPRIP | c.1654T>G (p.Phe552Val) c.*372+1244T>G (n.*372+1244T>G) c.562-3749A>C c.1708T>G (p.Phe570Val) c.1592+1244T>G (n.1592+1244T>G) c.1432T>G (p.Phe478Val) n.2924T>G n.2088T>G | dbSNP |
17 | g.17213741A>G | CA398529928 | FLCN,MPRIP | c.1654T>C (p.Phe552Leu) c.*372+1244T>C (n.*372+1244T>C) c.562-3749A>G c.1708T>C (p.Phe570Leu) c.1592+1244T>C (n.1592+1244T>C) c.1432T>C (p.Phe478Leu) n.2924T>C n.2088T>C | |
17 | g.17213741A>T | CA398529929 | FLCN,MPRIP | c.1654T>A (p.Phe552Ile) c.*372+1244T>A (n.*372+1244T>A) c.562-3749A>T c.1708T>A (p.Phe570Ile) c.1592+1244T>A (n.1592+1244T>A) c.1432T>A (p.Phe478Ile) n.2924T>A n.2088T>A | dbSNP |
17 | g.17213742C>A | CA398529930 | FLCN,MPRIP | c.1653G>T (p.Lys551Asn) c.*372+1243G>T (n.*372+1243G>T) c.562-3748C>A c.1707G>T (p.Lys569Asn) c.1592+1243G>T (n.1592+1243G>T) c.1431G>T (p.Lys477Asn) n.2923G>T n.2087G>T | |
17 | g.17213742C= | CA2250413581 | FLCN,MPRIP | c.1653G= (p.Lys551=) c.*372+1243G= (n.*372+1243G=) c.562-3748C= c.1707G= (p.Lys569=) c.1592+1243G= (n.1592+1243G=) c.1431G= (p.Lys477=) n.2923G= n.2087G= | |
17 | g.17213742C>G | CA398529931 | FLCN,MPRIP | c.1653G>C (p.Lys551Asn) c.*372+1243G>C (n.*372+1243G>C) c.562-3748C>G c.1707G>C (p.Lys569Asn) c.1592+1243G>C (n.1592+1243G>C) c.1431G>C (p.Lys477Asn) n.2923G>C n.2087G>C | dbSNP |
17 | g.17213742C>T | CA8415921 | FLCN,MPRIP | c.1653G>A (p.Lys551=) c.*372+1243G>A (n.*372+1243G>A) c.562-3748C>T c.1707G>A (p.Lys569=) c.1592+1243G>A (n.1592+1243G>A) c.1431G>A (p.Lys477=) n.2923G>A n.2087G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.17213743T>A | CA398529932 | FLCN,MPRIP | c.1652A>T (p.Lys551Met) c.*372+1242A>T (n.*372+1242A>T) c.562-3747T>A c.1706A>T (p.Lys569Met) c.1592+1242A>T (n.1592+1242A>T) c.1430A>T (p.Lys477Met) n.2922A>T n.2086A>T | |
17 | g.17213743T>C | CA398529933 | FLCN,MPRIP | c.1652A>G (p.Lys551Arg) c.*372+1242A>G (n.*372+1242A>G) c.562-3747T>C c.1706A>G (p.Lys569Arg) c.1592+1242A>G (n.1592+1242A>G) c.1430A>G (p.Lys477Arg) n.2922A>G n.2086A>G | gnomAD v4 |
17 | g.17213743T>G | CA398529934 | FLCN,MPRIP | c.1652A>C (p.Lys551Thr) c.*372+1242A>C (n.*372+1242A>C) c.562-3747T>G c.1706A>C (p.Lys569Thr) c.1592+1242A>C (n.1592+1242A>C) c.1430A>C (p.Lys477Thr) n.2922A>C n.2086A>C | |
17 | g.17213744T>A | CA398529935 | FLCN,MPRIP | c.1651A>T (p.Lys551Ter) c.*372+1241A>T (n.*372+1241A>T) c.562-3746T>A c.1705A>T (p.Lys569Ter) c.1592+1241A>T (n.1592+1241A>T) c.1429A>T (p.Lys477Ter) n.2921A>T n.2085A>T | |
17 | g.17213744T>C | CA398529936 | FLCN,MPRIP | c.1651A>G (p.Lys551Glu) c.*372+1241A>G (n.*372+1241A>G) c.562-3746T>C c.1705A>G (p.Lys569Glu) c.1592+1241A>G (n.1592+1241A>G) c.1429A>G (p.Lys477Glu) n.2921A>G n.2085A>G | |
17 | g.17213744T>G | CA398529937 | FLCN,MPRIP | c.1651A>C (p.Lys551Gln) c.*372+1241A>C (n.*372+1241A>C) c.562-3746T>G c.1705A>C (p.Lys569Gln) c.1592+1241A>C (n.1592+1241A>C) c.1429A>C (p.Lys477Gln) n.2921A>C n.2085A>C | ClinVar |
17 | g.17213745C>A | CA498163083 | FLCN,MPRIP | c.1650G>T (p.Leu550=) c.*372+1240G>T (n.*372+1240G>T) c.562-3745C>A c.1704G>T (p.Leu568=) c.1592+1240G>T (n.1592+1240G>T) c.1428G>T (p.Leu476=) n.2920G>T n.2084G>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.17213745C= | CA2250413585 | FLCN,MPRIP | c.1650G= (p.Leu550=) c.*372+1240G= (n.*372+1240G=) c.562-3745C= c.1704G= (p.Leu568=) c.1592+1240G= (n.1592+1240G=) c.1428G= (p.Leu476=) n.2920G= n.2084G= | |
17 | g.17213745C>G | CA498163084 | FLCN,MPRIP | c.1650G>C (p.Leu550=) c.*372+1240G>C (n.*372+1240G>C) c.562-3745C>G c.1704G>C (p.Leu568=) c.1592+1240G>C (n.1592+1240G>C) c.1428G>C (p.Leu476=) n.2920G>C n.2084G>C | dbSNP |
17 | g.17213745C>T | CA498163085 | FLCN,MPRIP | c.1650G>A (p.Leu550=) c.*372+1240G>A (n.*372+1240G>A) c.562-3745C>T c.1704G>A (p.Leu568=) c.1592+1240G>A (n.1592+1240G>A) c.1428G>A (p.Leu476=) n.2920G>A n.2084G>A | ClinVar dbSNP |
17 | g.17213746A>C | CA398529938 | FLCN,MPRIP | c.1649T>G (p.Leu550Arg) c.*372+1239T>G (n.*372+1239T>G) c.562-3744A>C c.1703T>G (p.Leu568Arg) c.1592+1239T>G (n.1592+1239T>G) c.1427T>G (p.Leu476Arg) n.2919T>G n.2083T>G | |
17 | g.17213746A>G | CA398529939 | FLCN,MPRIP | c.1649T>C (p.Leu550Pro) c.*372+1239T>C (n.*372+1239T>C) c.562-3744A>G c.1703T>C (p.Leu568Pro) c.1592+1239T>C (n.1592+1239T>C) c.1427T>C (p.Leu476Pro) n.2919T>C n.2083T>C | dbSNP |
17 | g.17213746A>T | CA398529940 | FLCN,MPRIP | c.1649T>A (p.Leu550Gln) c.*372+1239T>A (n.*372+1239T>A) c.562-3744A>T c.1703T>A (p.Leu568Gln) c.1592+1239T>A (n.1592+1239T>A) c.1427T>A (p.Leu476Gln) n.2919T>A n.2083T>A | dbSNP |
17 | g.17213747G>A | CA498163086 | FLCN,MPRIP | c.1648C>T (p.Leu550=) c.*372+1238C>T (n.*372+1238C>T) c.562-3743G>A c.1702C>T (p.Leu568=) c.1592+1238C>T (n.1592+1238C>T) c.1426C>T (p.Leu476=) n.2918C>T n.2082C>T | dbSNP |
17 | g.17213747G>C | CA398529941 | FLCN,MPRIP | c.1648C>G (p.Leu550Val) c.*372+1238C>G (n.*372+1238C>G) c.562-3743G>C c.1702C>G (p.Leu568Val) c.1592+1238C>G (n.1592+1238C>G) c.1426C>G (p.Leu476Val) n.2918C>G n.2082C>G | ClinVar dbSNP |
17 | g.17213747G>T | CA398529942 | FLCN,MPRIP | c.1648C>A (p.Leu550Met) c.*372+1238C>A (n.*372+1238C>A) c.562-3743G>T c.1702C>A (p.Leu568Met) c.1592+1238C>A (n.1592+1238C>A) c.1426C>A (p.Leu476Met) n.2918C>A n.2082C>A | |
17 | g.17213748del | CA2695224529 | FLCN,MPRIP | c.1647del (p.Leu550Ter) c.*372+1237del (n.*372+1237del) c.562-3742del c.1701del (p.Leu568Ter) c.1592+1237del (n.1592+1237del) c.1425del (p.Leu476Ter) n.2917del n.2081del | |
17 | g.17213748C>A | CA288303611 | FLCN,MPRIP | c.1647G>T (p.Leu549=) c.*372+1237G>T (n.*372+1237G>T) c.562-3742C>A c.1701G>T (p.Leu567=) c.1592+1237G>T (n.1592+1237G>T) c.1425G>T (p.Leu475=) n.2917G>T n.2081G>T | ClinVar dbSNP |
17 | g.17213748C= | CA2250413590 | FLCN,MPRIP | c.1647G= (p.Leu549=) c.*372+1237G= (n.*372+1237G=) c.562-3742C= c.1701G= (p.Leu567=) c.1592+1237G= (n.1592+1237G=) c.1425G= (p.Leu475=) n.2917G= n.2081G= | |
17 | g.17213748C>G | CA498163087 | FLCN,MPRIP | c.1647G>C (p.Leu549=) c.*372+1237G>C (n.*372+1237G>C) c.562-3742C>G c.1701G>C (p.Leu567=) c.1592+1237G>C (n.1592+1237G>C) c.1425G>C (p.Leu475=) n.2917G>C n.2081G>C | |
17 | g.17213748C>T | CA498163088 | FLCN,MPRIP | c.1647G>A (p.Leu549=) c.*372+1237G>A (n.*372+1237G>A) c.562-3742C>T c.1701G>A (p.Leu567=) c.1592+1237G>A (n.1592+1237G>A) c.1425G>A (p.Leu475=) n.2917G>A n.2081G>A | ClinVar dbSNP |
17 | g.17213749A>C | CA398529943 | FLCN,MPRIP | c.1646T>G (p.Leu549Arg) c.*372+1236T>G (n.*372+1236T>G) c.562-3741A>C c.1700T>G (p.Leu567Arg) c.1592+1236T>G (n.1592+1236T>G) c.1424T>G (p.Leu475Arg) n.2916T>G n.2080T>G | |
17 | g.17213749A>G | CA398529944 | FLCN,MPRIP | c.1646T>C (p.Leu549Pro) c.*372+1236T>C (n.*372+1236T>C) c.562-3741A>G c.1700T>C (p.Leu567Pro) c.1592+1236T>C (n.1592+1236T>C) c.1424T>C (p.Leu475Pro) n.2916T>C n.2080T>C | |
17 | g.17213749A>T | CA398529945 | FLCN,MPRIP | c.1646T>A (p.Leu549Gln) c.*372+1236T>A (n.*372+1236T>A) c.562-3741A>T c.1700T>A (p.Leu567Gln) c.1592+1236T>A (n.1592+1236T>A) c.1424T>A (p.Leu475Gln) n.2916T>A n.2080T>A | dbSNP |
17 | g.17213750G>A | CA498163089 | FLCN,MPRIP | c.1645C>T (p.Leu549=) c.*372+1235C>T (n.*372+1235C>T) c.562-3740G>A c.1699C>T (p.Leu567=) c.1592+1235C>T (n.1592+1235C>T) c.1423C>T (p.Leu475=) n.2915C>T n.2079C>T | |
17 | g.17213750G>C | CA398529946 | FLCN,MPRIP | c.1645C>G (p.Leu549Val) c.*372+1235C>G (n.*372+1235C>G) c.562-3740G>C c.1699C>G (p.Leu567Val) c.1592+1235C>G (n.1592+1235C>G) c.1423C>G (p.Leu475Val) n.2915C>G n.2079C>G | ClinVar dbSNP gnomAD v4 |
17 | g.17213750G= | CA2250413599 | FLCN,MPRIP | c.1645C= (p.Leu549=) c.*372+1235C= (n.*372+1235C=) c.562-3740G= c.1699C= (p.Leu567=) c.1592+1235C= (n.1592+1235C=) c.1423C= (p.Leu475=) n.2915C= n.2079C= | |
17 | g.17213750G>T | CA398529947 | FLCN,MPRIP | c.1645C>A (p.Leu549Met) c.*372+1235C>A (n.*372+1235C>A) c.562-3740G>T c.1699C>A (p.Leu567Met) c.1592+1235C>A (n.1592+1235C>A) c.1423C>A (p.Leu475Met) n.2915C>A n.2079C>A | |
17 | g.17213751C>A | CA398529948 | FLCN,MPRIP | c.1644G>T (p.Lys548Asn) c.*372+1234G>T (n.*372+1234G>T) c.562-3739C>A c.1698G>T (p.Lys566Asn) c.1592+1234G>T (n.1592+1234G>T) c.1422G>T (p.Lys474Asn) n.2914G>T n.2078G>T | |
17 | g.17213751C= | CA2250413605 | FLCN,MPRIP | c.1644G= (p.Lys548=) c.*372+1234G= (n.*372+1234G=) c.562-3739C= c.1698G= (p.Lys566=) c.1592+1234G= (n.1592+1234G=) c.1422G= (p.Lys474=) n.2914G= n.2078G= | |
17 | g.17213751C>G | CA8415922 | FLCN,MPRIP | c.1644G>C (p.Lys548Asn) c.*372+1234G>C (n.*372+1234G>C) c.562-3739C>G c.1698G>C (p.Lys566Asn) c.1592+1234G>C (n.1592+1234G>C) c.1422G>C (p.Lys474Asn) n.2914G>C n.2078G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.17213751C>T | CA498163090 | FLCN,MPRIP | c.1644G>A (p.Lys548=) c.*372+1234G>A (n.*372+1234G>A) c.562-3739C>T c.1698G>A (p.Lys566=) c.1592+1234G>A (n.1592+1234G>A) c.1422G>A (p.Lys474=) n.2914G>A n.2078G>A | ClinVar dbSNP |
17 | g.17213752T>A | CA398529949 | FLCN,MPRIP | c.1643A>T (p.Lys548Met) c.*372+1233A>T (n.*372+1233A>T) c.562-3738T>A c.1697A>T (p.Lys566Met) c.1592+1233A>T (n.1592+1233A>T) c.1421A>T (p.Lys474Met) n.2913A>T n.2077A>T | |
17 | g.17213752T>C | CA398529950 | FLCN,MPRIP | c.1643A>G (p.Lys548Arg) c.*372+1233A>G (n.*372+1233A>G) c.562-3738T>C c.1697A>G (p.Lys566Arg) c.1592+1233A>G (n.1592+1233A>G) c.1421A>G (p.Lys474Arg) n.2913A>G n.2077A>G | |
17 | g.17213752T>G | CA398529951 | FLCN,MPRIP | c.1643A>C (p.Lys548Thr) c.*372+1233A>C (n.*372+1233A>C) c.562-3738T>G c.1697A>C (p.Lys566Thr) c.1592+1233A>C (n.1592+1233A>C) c.1421A>C (p.Lys474Thr) n.2913A>C n.2077A>C | ClinVar dbSNP |
17 | g.17213752T= | CA2250413609 | FLCN,MPRIP | c.1643A= (p.Lys548=) c.*372+1233A= (n.*372+1233A=) c.562-3738T= c.1697A= (p.Lys566=) c.1592+1233A= (n.1592+1233A=) c.1421A= (p.Lys474=) n.2913A= n.2077A= | |
17 | g.17213753T>A | CA398529952 | FLCN,MPRIP | c.1642A>T (p.Lys548Ter) c.*372+1232A>T (n.*372+1232A>T) c.562-3737T>A c.1696A>T (p.Lys566Ter) c.1592+1232A>T (n.1592+1232A>T) c.1420A>T (p.Lys474Ter) n.2912A>T n.2076A>T | |
17 | g.17213753T>C | CA398529953 | FLCN,MPRIP | c.1642A>G (p.Lys548Glu) c.*372+1232A>G (n.*372+1232A>G) c.562-3737T>C c.1696A>G (p.Lys566Glu) c.1592+1232A>G (n.1592+1232A>G) c.1420A>G (p.Lys474Glu) n.2912A>G n.2076A>G | ClinVar dbSNP |
17 | g.17213753T>G | CA398529954 | FLCN,MPRIP | c.1642A>C (p.Lys548Gln) c.*372+1232A>C (n.*372+1232A>C) c.562-3737T>G c.1696A>C (p.Lys566Gln) c.1592+1232A>C (n.1592+1232A>C) c.1420A>C (p.Lys474Gln) n.2912A>C n.2076A>C | |
17 | g.17213754G>A | CA498163091 | FLCN,MPRIP | c.1641C>T (p.Val547=) c.*372+1231C>T (n.*372+1231C>T) c.562-3736G>A c.1695C>T (p.Val565=) c.1592+1231C>T (n.1592+1231C>T) c.1419C>T (p.Val473=) n.2911C>T n.2075C>T | dbSNP gnomAD v4 |
17 | g.17213754G>C | CA498163093 | FLCN,MPRIP | c.1641C>G (p.Val547=) c.*372+1231C>G (n.*372+1231C>G) c.562-3736G>C c.1695C>G (p.Val565=) c.1592+1231C>G (n.1592+1231C>G) c.1419C>G (p.Val473=) n.2911C>G n.2075C>G | dbSNP |
17 | g.17213754G= | CA2250413612 | FLCN,MPRIP | c.1641C= (p.Val547=) c.*372+1231C= (n.*372+1231C=) c.562-3736G= c.1695C= (p.Val565=) c.1592+1231C= (n.1592+1231C=) c.1419C= (p.Val473=) n.2911C= n.2075C= | |
17 | g.17213754G>T | CA498163092 | FLCN,MPRIP | c.1641C>A (p.Val547=) c.*372+1231C>A (n.*372+1231C>A) c.562-3736G>T c.1695C>A (p.Val565=) c.1592+1231C>A (n.1592+1231C>A) c.1419C>A (p.Val473=) n.2911C>A n.2075C>A | ClinVar dbSNP gnomAD v2 |
17 | g.17213755A>C | CA398529955 | FLCN,MPRIP | c.1640T>G (p.Val547Gly) c.*372+1230T>G (n.*372+1230T>G) c.562-3735A>C c.1694T>G (p.Val565Gly) c.1592+1230T>G (n.1592+1230T>G) c.1418T>G (p.Val473Gly) n.2910T>G n.2074T>G | |
17 | g.17213755A>G | CA398529957 | FLCN,MPRIP | c.1640T>C (p.Val547Ala) c.*372+1230T>C (n.*372+1230T>C) c.562-3735A>G c.1694T>C (p.Val565Ala) c.1592+1230T>C (n.1592+1230T>C) c.1418T>C (p.Val473Ala) n.2910T>C n.2074T>C | gnomAD v4 |
17 | g.17213755A>T | CA398529956 | FLCN,MPRIP | c.1640T>A (p.Val547Asp) c.*372+1230T>A (n.*372+1230T>A) c.562-3735A>T c.1694T>A (p.Val565Asp) c.1592+1230T>A (n.1592+1230T>A) c.1418T>A (p.Val473Asp) n.2910T>A n.2074T>A | dbSNP |