Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.67782880T>A | CA390170322 | ZFYVE26 | c.4272A>T (p.Arg1424Ser) n.4409A>T c.*2350+219A>T (n.*2350+219A>T) c.2763A>T (p.Arg921Ser) c.1947A>T (p.Arg649Ser) c.1854A>T (p.Arg618Ser) | |
14 | g.67782880T>C | CA486970598 | ZFYVE26 | c.4272A>G (p.Arg1424=) n.4409A>G c.*2350+219A>G (n.*2350+219A>G) c.2763A>G (p.Arg921=) c.1947A>G (p.Arg649=) c.1854A>G (p.Arg618=) | |
14 | g.67782880T>G | CA390170325 | ZFYVE26 | c.4272A>C (p.Arg1424Ser) n.4409A>C c.*2350+219A>C (n.*2350+219A>C) c.2763A>C (p.Arg921Ser) c.1947A>C (p.Arg649Ser) c.1854A>C (p.Arg618Ser) | |
14 | g.67782881C>A | CA390170328 | ZFYVE26 | c.4271G>T (p.Arg1424Ile) n.4408G>T c.*2350+218G>T (n.*2350+218G>T) c.2762G>T (p.Arg921Ile) c.1946G>T (p.Arg649Ile) c.1853G>T (p.Arg618Ile) | |
14 | g.67782881C>G | CA390170330 | ZFYVE26 | c.4271G>C (p.Arg1424Thr) n.4408G>C c.*2350+218G>C (n.*2350+218G>C) c.2762G>C (p.Arg921Thr) c.1946G>C (p.Arg649Thr) c.1853G>C (p.Arg618Thr) | |
14 | g.67782881C>T | CA390170326 | ZFYVE26 | c.4271G>A (p.Arg1424Lys) n.4408G>A c.*2350+218G>A (n.*2350+218G>A) c.2762G>A (p.Arg921Lys) c.1946G>A (p.Arg649Lys) c.1853G>A (p.Arg618Lys) | |
14 | g.67782882T>A | CA390170333 | ZFYVE26 | c.4270A>T (p.Arg1424Ter) n.4407A>T c.*2350+217A>T (n.*2350+217A>T) c.2761A>T (p.Arg921Ter) c.1945A>T (p.Arg649Ter) c.1852A>T (p.Arg618Ter) | |
14 | g.67782882T>C | CA390170334 | ZFYVE26 | c.4270A>G (p.Arg1424Gly) n.4407A>G c.*2350+217A>G (n.*2350+217A>G) c.2761A>G (p.Arg921Gly) c.1945A>G (p.Arg649Gly) c.1852A>G (p.Arg618Gly) | |
14 | g.67782882T>G | CA486970601 | ZFYVE26 | c.4270A>C (p.Arg1424=) n.4407A>C c.*2350+217A>C (n.*2350+217A>C) c.2761A>C (p.Arg921=) c.1945A>C (p.Arg649=) c.1852A>C (p.Arg618=) | |
14 | g.67782883G>A | CA486970602 | ZFYVE26 | c.4269C>T (p.Ala1423=) n.4406C>T c.*2350+216C>T (n.*2350+216C>T) c.2760C>T (p.Ala920=) c.1944C>T (p.Ala648=) c.1851C>T (p.Ala617=) | dbSNP |
14 | g.67782883G>C | CA486970604 | ZFYVE26 | c.4269C>G (p.Ala1423=) n.4406C>G c.*2350+216C>G (n.*2350+216C>G) c.2760C>G (p.Ala920=) c.1944C>G (p.Ala648=) c.1851C>G (p.Ala617=) | |
14 | g.67782883G= | CA2144027666 | ZFYVE26 | c.4269C= (p.Ala1423=) n.4406C= c.*2350+216C= (n.*2350+216C=) c.2760C= (p.Ala920=) c.1944C= (p.Ala648=) c.1851C= (p.Ala617=) | |
14 | g.67782883G>T | CA486970605 | ZFYVE26 | c.4269C>A (p.Ala1423=) n.4406C>A c.*2350+216C>A (n.*2350+216C>A) c.2760C>A (p.Ala920=) c.1944C>A (p.Ala648=) c.1851C>A (p.Ala617=) | |
14 | g.67782884del | CA2625374427 | ZFYVE26 | c.4269del (p.Arg1424GlufsTer20) n.4406del c.*2350+216del (n.*2350+216del) c.2760del (p.Arg921GlufsTer20) c.1944del (p.Arg649GlufsTer20) c.1851del (p.Arg618GlufsTer20) | gnomAD v4 |
14 | g.67782884G>A | CA390170336 | ZFYVE26 | c.4268C>T (p.Ala1423Val) n.4405C>T c.*2350+215C>T (n.*2350+215C>T) c.2759C>T (p.Ala920Val) c.1943C>T (p.Ala648Val) c.1850C>T (p.Ala617Val) | |
14 | g.67782884G>C | CA390170338 | ZFYVE26 | c.4268C>G (p.Ala1423Gly) n.4405C>G c.*2350+215C>G (n.*2350+215C>G) c.2759C>G (p.Ala920Gly) c.1943C>G (p.Ala648Gly) c.1850C>G (p.Ala617Gly) | |
14 | g.67782884G>T | CA390170340 | ZFYVE26 | c.4268C>A (p.Ala1423Asp) n.4405C>A c.*2350+215C>A (n.*2350+215C>A) c.2759C>A (p.Ala920Asp) c.1943C>A (p.Ala648Asp) c.1850C>A (p.Ala617Asp) | |
14 | g.67782885C>A | CA390170342 | ZFYVE26 | c.4267G>T (p.Ala1423Ser) n.4404G>T c.*2350+214G>T (n.*2350+214G>T) c.2758G>T (p.Ala920Ser) c.1942G>T (p.Ala648Ser) c.1849G>T (p.Ala617Ser) | gnomAD v4 |
14 | g.67782885C>G | CA390170344 | ZFYVE26 | c.4267G>C (p.Ala1423Pro) n.4404G>C c.*2350+214G>C (n.*2350+214G>C) c.2758G>C (p.Ala920Pro) c.1942G>C (p.Ala648Pro) c.1849G>C (p.Ala617Pro) | |
14 | g.67782885C>T | CA390170346 | ZFYVE26 | c.4267G>A (p.Ala1423Thr) n.4404G>A c.*2350+214G>A (n.*2350+214G>A) c.2758G>A (p.Ala920Thr) c.1942G>A (p.Ala648Thr) c.1849G>A (p.Ala617Thr) | |
14 | g.67782886C>A | CA486970609 | ZFYVE26 | c.4266G>T (p.Val1422=) n.4403G>T c.*2350+213G>T (n.*2350+213G>T) c.2757G>T (p.Val919=) c.1941G>T (p.Val647=) c.1848G>T (p.Val616=) | |
14 | g.67782886C>G | CA486970610 | ZFYVE26 | c.4266G>C (p.Val1422=) n.4403G>C c.*2350+213G>C (n.*2350+213G>C) c.2757G>C (p.Val919=) c.1941G>C (p.Val647=) c.1848G>C (p.Val616=) | |
14 | g.67782886C>T | CA486970611 | ZFYVE26 | c.4266G>A (p.Val1422=) n.4403G>A c.*2350+213G>A (n.*2350+213G>A) c.2757G>A (p.Val919=) c.1941G>A (p.Val647=) c.1848G>A (p.Val616=) | |
14 | g.67782887A= | CA2144027667 | ZFYVE26 | c.4265T= (p.Val1422=) n.4402T= c.*2350+212T= (n.*2350+212T=) c.2756T= (p.Val919=) c.1940T= (p.Val647=) c.1847T= (p.Val616=) | |
14 | g.67782887A>C | CA390170348 | ZFYVE26 | c.4265T>G (p.Val1422Gly) n.4402T>G c.*2350+212T>G (n.*2350+212T>G) c.2756T>G (p.Val919Gly) c.1940T>G (p.Val647Gly) c.1847T>G (p.Val616Gly) | |
14 | g.67782887A>G | CA7239811 | ZFYVE26 | c.4265T>C (p.Val1422Ala) n.4402T>C c.*2350+212T>C (n.*2350+212T>C) c.2756T>C (p.Val919Ala) c.1940T>C (p.Val647Ala) c.1847T>C (p.Val616Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.67782887A>T | CA390170351 | ZFYVE26 | c.4265T>A (p.Val1422Glu) n.4402T>A c.*2350+212T>A (n.*2350+212T>A) c.2756T>A (p.Val919Glu) c.1940T>A (p.Val647Glu) c.1847T>A (p.Val616Glu) | |
14 | g.67782888C>A | CA390170353 | ZFYVE26 | c.4264G>T (p.Val1422Leu) n.4401G>T c.*2350+211G>T (n.*2350+211G>T) c.2755G>T (p.Val919Leu) c.1939G>T (p.Val647Leu) c.1846G>T (p.Val616Leu) | |
14 | g.67782888C= | CA2144027668 | ZFYVE26 | c.4264G= (p.Val1422=) n.4401G= c.*2350+211G= (n.*2350+211G=) c.2755G= (p.Val919=) c.1939G= (p.Val647=) c.1846G= (p.Val616=) | |
14 | g.67782888C>G | CA390170355 | ZFYVE26 | c.4264G>C (p.Val1422Leu) n.4401G>C c.*2350+211G>C (n.*2350+211G>C) c.2755G>C (p.Val919Leu) c.1939G>C (p.Val647Leu) c.1846G>C (p.Val616Leu) | |
14 | g.67782888C>T | CA7239812 | ZFYVE26 | c.4264G>A (p.Val1422Met) n.4401G>A c.*2350+211G>A (n.*2350+211G>A) c.2755G>A (p.Val919Met) c.1939G>A (p.Val647Met) c.1846G>A (p.Val616Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.67782889C>A | CA390170357 | ZFYVE26 | c.4263G>T (p.Leu1421Phe) n.4400G>T c.*2350+210G>T (n.*2350+210G>T) c.2754G>T (p.Leu918Phe) c.1938G>T (p.Leu646Phe) c.1845G>T (p.Leu615Phe) | |
14 | g.67782889C>G | CA390170359 | ZFYVE26 | c.4263G>C (p.Leu1421Phe) n.4400G>C c.*2350+210G>C (n.*2350+210G>C) c.2754G>C (p.Leu918Phe) c.1938G>C (p.Leu646Phe) c.1845G>C (p.Leu615Phe) | |
14 | g.67782889C>T | CA486970614 | ZFYVE26 | c.4263G>A (p.Leu1421=) n.4400G>A c.*2350+210G>A (n.*2350+210G>A) c.2754G>A (p.Leu918=) c.1938G>A (p.Leu646=) c.1845G>A (p.Leu615=) | ClinVar gnomAD v4 |
14 | g.67782890A>C | CA390170360 | ZFYVE26 | c.4262T>G (p.Leu1421Trp) n.4399T>G c.*2350+209T>G (n.*2350+209T>G) c.2753T>G (p.Leu918Trp) c.1937T>G (p.Leu646Trp) c.1844T>G (p.Leu615Trp) | |
14 | g.67782890A>G | CA390170362 | ZFYVE26 | c.4262T>C (p.Leu1421Ser) n.4399T>C c.*2350+209T>C (n.*2350+209T>C) c.2753T>C (p.Leu918Ser) c.1937T>C (p.Leu646Ser) c.1844T>C (p.Leu615Ser) | |
14 | g.67782890A>T | CA390170364 | ZFYVE26 | c.4262T>A (p.Leu1421Ter) n.4399T>A c.*2350+209T>A (n.*2350+209T>A) c.2753T>A (p.Leu918Ter) c.1937T>A (p.Leu646Ter) c.1844T>A (p.Leu615Ter) | ClinVar |
14 | g.67782891A= | CA2144027669 | ZFYVE26 | c.4261T= (p.Leu1421=) n.4398T= c.*2350+208T= (n.*2350+208T=) c.2752T= (p.Leu918=) c.1936T= (p.Leu646=) c.1843T= (p.Leu615=) | |
14 | g.67782891A>C | CA7239813 | ZFYVE26 | c.4261T>G (p.Leu1421Val) n.4398T>G c.*2350+208T>G (n.*2350+208T>G) c.2752T>G (p.Leu918Val) c.1936T>G (p.Leu646Val) c.1843T>G (p.Leu615Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.67782891A>G | CA486970616 | ZFYVE26 | c.4261T>C (p.Leu1421=) n.4398T>C c.*2350+208T>C (n.*2350+208T>C) c.2752T>C (p.Leu918=) c.1936T>C (p.Leu646=) c.1843T>C (p.Leu615=) | ClinVar dbSNP gnomAD v4 |
14 | g.67782891A>T | CA390170366 | ZFYVE26 | c.4261T>A (p.Leu1421Met) n.4398T>A c.*2350+208T>A (n.*2350+208T>A) c.2752T>A (p.Leu918Met) c.1936T>A (p.Leu646Met) c.1843T>A (p.Leu615Met) | |
14 | g.67782892G>A | CA7239814 | ZFYVE26 | c.4260C>T (p.Ser1420=) n.4397C>T c.*2350+207C>T (n.*2350+207C>T) c.2751C>T (p.Ser917=) c.1935C>T (p.Ser645=) c.1842C>T (p.Ser614=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.67782892G>C | CA486970619 | ZFYVE26 | c.4260C>G (p.Ser1420=) n.4397C>G c.*2350+207C>G (n.*2350+207C>G) c.2751C>G (p.Ser917=) c.1935C>G (p.Ser645=) c.1842C>G (p.Ser614=) | |
14 | g.67782892G= | CA2144027670 | ZFYVE26 | c.4260C= (p.Ser1420=) n.4397C= c.*2350+207C= (n.*2350+207C=) c.2751C= (p.Ser917=) c.1935C= (p.Ser645=) c.1842C= (p.Ser614=) | |
14 | g.67782892G>T | CA486970620 | ZFYVE26 | c.4260C>A (p.Ser1420=) n.4397C>A c.*2350+207C>A (n.*2350+207C>A) c.2751C>A (p.Ser917=) c.1935C>A (p.Ser645=) c.1842C>A (p.Ser614=) | |
14 | g.67782893G>A | CA390170370 | ZFYVE26 | c.4259C>T (p.Ser1420Phe) n.4396C>T c.*2350+206C>T (n.*2350+206C>T) c.2750C>T (p.Ser917Phe) c.1934C>T (p.Ser645Phe) c.1841C>T (p.Ser614Phe) | gnomAD v4 |
14 | g.67782893G>C | CA390170372 | ZFYVE26 | c.4259C>G (p.Ser1420Cys) n.4396C>G c.*2350+206C>G (n.*2350+206C>G) c.2750C>G (p.Ser917Cys) c.1934C>G (p.Ser645Cys) c.1841C>G (p.Ser614Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.67782893G= | CA2144027671 | ZFYVE26 | c.4259C= (p.Ser1420=) n.4396C= c.*2350+206C= (n.*2350+206C=) c.2750C= (p.Ser917=) c.1934C= (p.Ser645=) c.1841C= (p.Ser614=) | |
14 | g.67782893G>T | CA390170374 | ZFYVE26 | c.4259C>A (p.Ser1420Tyr) n.4396C>A c.*2350+206C>A (n.*2350+206C>A) c.2750C>A (p.Ser917Tyr) c.1934C>A (p.Ser645Tyr) c.1841C>A (p.Ser614Tyr) | |
14 | g.67782894A>C | CA390170376 | ZFYVE26 | c.4258T>G (p.Ser1420Ala) n.4395T>G c.*2350+205T>G (n.*2350+205T>G) c.2749T>G (p.Ser917Ala) c.1933T>G (p.Ser645Ala) c.1840T>G (p.Ser614Ala) | |
14 | g.67782894A>G | CA390170378 | ZFYVE26 | c.4258T>C (p.Ser1420Pro) n.4395T>C c.*2350+205T>C (n.*2350+205T>C) c.2749T>C (p.Ser917Pro) c.1933T>C (p.Ser645Pro) c.1840T>C (p.Ser614Pro) | |
14 | g.67782894A>T | CA390170380 | ZFYVE26 | c.4258T>A (p.Ser1420Thr) n.4395T>A c.*2350+205T>A (n.*2350+205T>A) c.2749T>A (p.Ser917Thr) c.1933T>A (p.Ser645Thr) c.1840T>A (p.Ser614Thr) | gnomAD v4 |
14 | g.67782895T>A | CA390170382 | ZFYVE26 | c.4257A>T (p.Glu1419Asp) n.4394A>T c.*2350+204A>T (n.*2350+204A>T) c.2748A>T (p.Glu916Asp) c.1932A>T (p.Glu644Asp) c.1839A>T (p.Glu613Asp) | |
14 | g.67782895T>C | CA486970622 | ZFYVE26 | c.4257A>G (p.Glu1419=) n.4394A>G c.*2350+204A>G (n.*2350+204A>G) c.2748A>G (p.Glu916=) c.1932A>G (p.Glu644=) c.1839A>G (p.Glu613=) | dbSNP gnomAD v4 |
14 | g.67782895T>G | CA390170384 | ZFYVE26 | c.4257A>C (p.Glu1419Asp) n.4394A>C c.*2350+204A>C (n.*2350+204A>C) c.2748A>C (p.Glu916Asp) c.1932A>C (p.Glu644Asp) c.1839A>C (p.Glu613Asp) | |
14 | g.67782895T= | CA2144027672 | ZFYVE26 | c.4257A= (p.Glu1419=) n.4394A= c.*2350+204A= (n.*2350+204A=) c.2748A= (p.Glu916=) c.1932A= (p.Glu644=) c.1839A= (p.Glu613=) | |
14 | g.67782896T>A | CA7239815 | ZFYVE26 | c.4256A>T (p.Glu1419Val) n.4393A>T c.*2350+203A>T (n.*2350+203A>T) c.2747A>T (p.Glu916Val) c.1931A>T (p.Glu644Val) c.1838A>T (p.Glu613Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.67782896T>C | CA390170388 | ZFYVE26 | c.4256A>G (p.Glu1419Gly) n.4393A>G c.*2350+203A>G (n.*2350+203A>G) c.2747A>G (p.Glu916Gly) c.1931A>G (p.Glu644Gly) c.1838A>G (p.Glu613Gly) | |
14 | g.67782896T>G | CA390170386 | ZFYVE26 | c.4256A>C (p.Glu1419Ala) n.4393A>C c.*2350+203A>C (n.*2350+203A>C) c.2747A>C (p.Glu916Ala) c.1931A>C (p.Glu644Ala) c.1838A>C (p.Glu613Ala) | |
14 | g.67782896T= | CA2144027673 | ZFYVE26 | c.4256A= (p.Glu1419=) n.4393A= c.*2350+203A= (n.*2350+203A=) c.2747A= (p.Glu916=) c.1931A= (p.Glu644=) c.1838A= (p.Glu613=) | |
14 | g.67782897C>A | CA390170393 | ZFYVE26 | c.4255G>T (p.Glu1419Ter) n.4392G>T c.*2350+202G>T (n.*2350+202G>T) c.2746G>T (p.Glu916Ter) c.1930G>T (p.Glu644Ter) c.1837G>T (p.Glu613Ter) | COSMIC |
14 | g.67782897C>G | CA390170391 | ZFYVE26 | c.4255G>C (p.Glu1419Gln) n.4392G>C c.*2350+202G>C (n.*2350+202G>C) c.2746G>C (p.Glu916Gln) c.1930G>C (p.Glu644Gln) c.1837G>C (p.Glu613Gln) | |
14 | g.67782897C>T | CA390170395 | ZFYVE26 | c.4255G>A (p.Glu1419Lys) n.4392G>A c.*2350+202G>A (n.*2350+202G>A) c.2746G>A (p.Glu916Lys) c.1930G>A (p.Glu644Lys) c.1837G>A (p.Glu613Lys) | |
14 | g.67782898C>A | CA390170397 | ZFYVE26 | c.4254G>T (p.Glu1418Asp) n.4391G>T c.*2350+201G>T (n.*2350+201G>T) c.2745G>T (p.Glu915Asp) c.1929G>T (p.Glu643Asp) c.1836G>T (p.Glu612Asp) | |
14 | g.67782898C>G | CA390170399 | ZFYVE26 | c.4254G>C (p.Glu1418Asp) n.4391G>C c.*2350+201G>C (n.*2350+201G>C) c.2745G>C (p.Glu915Asp) c.1929G>C (p.Glu643Asp) c.1836G>C (p.Glu612Asp) | |
14 | g.67782898C>T | CA486970627 | ZFYVE26 | c.4254G>A (p.Glu1418=) n.4391G>A c.*2350+201G>A (n.*2350+201G>A) c.2745G>A (p.Glu915=) c.1929G>A (p.Glu643=) c.1836G>A (p.Glu612=) | |
14 | g.67782899T>A | CA390170401 | ZFYVE26 | c.4253A>T (p.Glu1418Val) n.4390A>T c.*2350+200A>T (n.*2350+200A>T) c.2744A>T (p.Glu915Val) c.1928A>T (p.Glu643Val) c.1835A>T (p.Glu612Val) | |
14 | g.67782899T>C | CA390170402 | ZFYVE26 | c.4253A>G (p.Glu1418Gly) n.4390A>G c.*2350+200A>G (n.*2350+200A>G) c.2744A>G (p.Glu915Gly) c.1928A>G (p.Glu643Gly) c.1835A>G (p.Glu612Gly) | dbSNP gnomAD v4 |
14 | g.67782899T>G | CA390170404 | ZFYVE26 | c.4253A>C (p.Glu1418Ala) n.4390A>C c.*2350+200A>C (n.*2350+200A>C) c.2744A>C (p.Glu915Ala) c.1928A>C (p.Glu643Ala) c.1835A>C (p.Glu612Ala) | |
14 | g.67782899T= | CA2144027674 | ZFYVE26 | c.4253A= (p.Glu1418=) n.4390A= c.*2350+200A= (n.*2350+200A=) c.2744A= (p.Glu915=) c.1928A= (p.Glu643=) c.1835A= (p.Glu612=) | |
14 | g.67782900C>A | CA390170406 | ZFYVE26 | c.4252G>T (p.Glu1418Ter) n.4389G>T c.*2350+199G>T (n.*2350+199G>T) c.2743G>T (p.Glu915Ter) c.1927G>T (p.Glu643Ter) c.1834G>T (p.Glu612Ter) | |
14 | g.67782900C>G | CA390170407 | ZFYVE26 | c.4252G>C (p.Glu1418Gln) n.4389G>C c.*2350+199G>C (n.*2350+199G>C) c.2743G>C (p.Glu915Gln) c.1927G>C (p.Glu643Gln) c.1834G>C (p.Glu612Gln) | |
14 | g.67782900C>T | CA390170410 | ZFYVE26 | c.4252G>A (p.Glu1418Lys) n.4389G>A c.*2350+199G>A (n.*2350+199G>A) c.2743G>A (p.Glu915Lys) c.1927G>A (p.Glu643Lys) c.1834G>A (p.Glu612Lys) | |
14 | g.67782901A>C | CA390170411 | ZFYVE26 | c.4251T>G (p.Phe1417Leu) n.4388T>G c.*2350+198T>G (n.*2350+198T>G) c.2742T>G (p.Phe914Leu) c.1926T>G (p.Phe642Leu) c.1833T>G (p.Phe611Leu) | |
14 | g.67782901A>G | CA486970631 | ZFYVE26 | c.4251T>C (p.Phe1417=) n.4388T>C c.*2350+198T>C (n.*2350+198T>C) c.2742T>C (p.Phe914=) c.1926T>C (p.Phe642=) c.1833T>C (p.Phe611=) | |
14 | g.67782901A>T | CA390170413 | ZFYVE26 | c.4251T>A (p.Phe1417Leu) n.4388T>A c.*2350+198T>A (n.*2350+198T>A) c.2742T>A (p.Phe914Leu) c.1926T>A (p.Phe642Leu) c.1833T>A (p.Phe611Leu) | gnomAD v4 |
14 | g.67782902A>C | CA390170416 | ZFYVE26 | c.4250T>G (p.Phe1417Cys) n.4387T>G c.*2350+197T>G (n.*2350+197T>G) c.2741T>G (p.Phe914Cys) c.1925T>G (p.Phe642Cys) c.1832T>G (p.Phe611Cys) | |
14 | g.67782902A>G | CA390170417 | ZFYVE26 | c.4250T>C (p.Phe1417Ser) n.4387T>C c.*2350+197T>C (n.*2350+197T>C) c.2741T>C (p.Phe914Ser) c.1925T>C (p.Phe642Ser) c.1832T>C (p.Phe611Ser) | |
14 | g.67782902A>T | CA390170419 | ZFYVE26 | c.4250T>A (p.Phe1417Tyr) n.4387T>A c.*2350+197T>A (n.*2350+197T>A) c.2741T>A (p.Phe914Tyr) c.1925T>A (p.Phe642Tyr) c.1832T>A (p.Phe611Tyr) | |
14 | g.67782903A>C | CA390170425 | ZFYVE26 | c.4249T>G (p.Phe1417Val) n.4386T>G c.*2350+196T>G (n.*2350+196T>G) c.2740T>G (p.Phe914Val) c.1924T>G (p.Phe642Val) c.1831T>G (p.Phe611Val) | |
14 | g.67782903A>G | CA390170424 | ZFYVE26 | c.4249T>C (p.Phe1417Leu) n.4386T>C c.*2350+196T>C (n.*2350+196T>C) c.2740T>C (p.Phe914Leu) c.1924T>C (p.Phe642Leu) c.1831T>C (p.Phe611Leu) | |
14 | g.67782903A>T | CA390170421 | ZFYVE26 | c.4249T>A (p.Phe1417Ile) n.4386T>A c.*2350+196T>A (n.*2350+196T>A) c.2740T>A (p.Phe914Ile) c.1924T>A (p.Phe642Ile) c.1831T>A (p.Phe611Ile) | |
14 | g.67782904A>C | CA486970634 | ZFYVE26 | c.4248T>G (p.Ala1416=) n.4385T>G c.*2350+195T>G (n.*2350+195T>G) c.2739T>G (p.Ala913=) c.1923T>G (p.Ala641=) c.1830T>G (p.Ala610=) | |
14 | g.67782904A>G | CA486970635 | ZFYVE26 | c.4248T>C (p.Ala1416=) n.4385T>C c.*2350+195T>C (n.*2350+195T>C) c.2739T>C (p.Ala913=) c.1923T>C (p.Ala641=) c.1830T>C (p.Ala610=) | |
14 | g.67782904A>T | CA486970636 | ZFYVE26 | c.4248T>A (p.Ala1416=) n.4385T>A c.*2350+195T>A (n.*2350+195T>A) c.2739T>A (p.Ala913=) c.1923T>A (p.Ala641=) c.1830T>A (p.Ala610=) | |
14 | g.67782905G>A | CA390170428 | ZFYVE26 | c.4247C>T (p.Ala1416Val) n.4384C>T c.*2350+194C>T (n.*2350+194C>T) c.2738C>T (p.Ala913Val) c.1922C>T (p.Ala641Val) c.1829C>T (p.Ala610Val) | dbSNP |
14 | g.67782905G>C | CA390170429 | ZFYVE26 | c.4247C>G (p.Ala1416Gly) n.4384C>G c.*2350+194C>G (n.*2350+194C>G) c.2738C>G (p.Ala913Gly) c.1922C>G (p.Ala641Gly) c.1829C>G (p.Ala610Gly) | |
14 | g.67782905G= | CA2144027675 | ZFYVE26 | c.4247C= (p.Ala1416=) n.4384C= c.*2350+194C= (n.*2350+194C=) c.2738C= (p.Ala913=) c.1922C= (p.Ala641=) c.1829C= (p.Ala610=) | |
14 | g.67782905G>T | CA390170431 | ZFYVE26 | c.4247C>A (p.Ala1416Asp) n.4384C>A c.*2350+194C>A (n.*2350+194C>A) c.2738C>A (p.Ala913Asp) c.1922C>A (p.Ala641Asp) c.1829C>A (p.Ala610Asp) | |
14 | g.67782906C>A | CA390170434 | ZFYVE26 | c.4246G>T (p.Ala1416Ser) n.4383G>T c.*2350+193G>T (n.*2350+193G>T) c.2737G>T (p.Ala913Ser) c.1921G>T (p.Ala641Ser) c.1828G>T (p.Ala610Ser) | |
14 | g.67782906C= | CA2144027676 | ZFYVE26 | c.4246G= (p.Ala1416=) n.4383G= c.*2350+193G= (n.*2350+193G=) c.2737G= (p.Ala913=) c.1921G= (p.Ala641=) c.1828G= (p.Ala610=) | |
14 | g.67782906C>G | CA390170435 | ZFYVE26 | c.4246G>C (p.Ala1416Pro) n.4383G>C c.*2350+193G>C (n.*2350+193G>C) c.2737G>C (p.Ala913Pro) c.1921G>C (p.Ala641Pro) c.1828G>C (p.Ala610Pro) | |
14 | g.67782906C>T | CA7239816 | ZFYVE26 | c.4246G>A (p.Ala1416Thr) n.4383G>A c.*2350+193G>A (n.*2350+193G>A) c.2737G>A (p.Ala913Thr) c.1921G>A (p.Ala641Thr) c.1828G>A (p.Ala610Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.67782907dup | CA2841287252 | ZFYVE26 | c.4246dup (p.Ala1416GlyfsTer3) n.4383dup c.*2350+193dup (n.*2350+193dup) c.2737dup (p.Ala913GlyfsTer3) c.1921dup (p.Ala641GlyfsTer3) c.1828dup (p.Ala610GlyfsTer3) | |
14 | g.67782907C>A | CA390170438 | ZFYVE26 | c.4245G>T (p.Glu1415Asp) n.4382G>T c.*2350+192G>T (n.*2350+192G>T) c.2736G>T (p.Glu912Asp) c.1920G>T (p.Glu640Asp) c.1827G>T (p.Glu609Asp) | |
14 | g.67782907C= | CA2144027677 | ZFYVE26 | c.4245G= (p.Glu1415=) n.4382G= c.*2350+192G= (n.*2350+192G=) c.2736G= (p.Glu912=) c.1920G= (p.Glu640=) c.1827G= (p.Glu609=) | |
14 | g.67782907C>G | CA390170440 | ZFYVE26 | c.4245G>C (p.Glu1415Asp) n.4382G>C c.*2350+192G>C (n.*2350+192G>C) c.2736G>C (p.Glu912Asp) c.1920G>C (p.Glu640Asp) c.1827G>C (p.Glu609Asp) | |
14 | g.67782907C>T | CA7239817 | ZFYVE26 | c.4245G>A (p.Glu1415=) n.4382G>A c.*2350+192G>A (n.*2350+192G>A) c.2736G>A (p.Glu912=) c.1920G>A (p.Glu640=) c.1827G>A (p.Glu609=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.67782908T>A | CA390170443 | ZFYVE26 | c.4244A>T (p.Glu1415Val) n.4381A>T c.*2350+191A>T (n.*2350+191A>T) c.2735A>T (p.Glu912Val) c.1919A>T (p.Glu640Val) c.1826A>T (p.Glu609Val) | |
14 | g.67782908T>C | CA390170444 | ZFYVE26 | c.4244A>G (p.Glu1415Gly) n.4381A>G c.*2350+191A>G (n.*2350+191A>G) c.2735A>G (p.Glu912Gly) c.1919A>G (p.Glu640Gly) c.1826A>G (p.Glu609Gly) | |
14 | g.67782908T>G | CA390170445 | ZFYVE26 | c.4244A>C (p.Glu1415Ala) n.4381A>C c.*2350+191A>C (n.*2350+191A>C) c.2735A>C (p.Glu912Ala) c.1919A>C (p.Glu640Ala) c.1826A>C (p.Glu609Ala) | |
14 | g.67782909C>A | CA390170450 | ZFYVE26 | c.4243G>T (p.Glu1415Ter) n.4380G>T c.*2350+190G>T (n.*2350+190G>T) c.2734G>T (p.Glu912Ter) c.1918G>T (p.Glu640Ter) c.1825G>T (p.Glu609Ter) | |
14 | g.67782909C>G | CA390170452 | ZFYVE26 | c.4243G>C (p.Glu1415Gln) n.4380G>C c.*2350+190G>C (n.*2350+190G>C) c.2734G>C (p.Glu912Gln) c.1918G>C (p.Glu640Gln) c.1825G>C (p.Glu609Gln) | |
14 | g.67782909C>T | CA390170448 | ZFYVE26 | c.4243G>A (p.Glu1415Lys) n.4380G>A c.*2350+190G>A (n.*2350+190G>A) c.2734G>A (p.Glu912Lys) c.1918G>A (p.Glu640Lys) c.1825G>A (p.Glu609Lys) | |
14 | g.67782910A>C | CA390170454 | ZFYVE26 | c.4242T>G (p.Ser1414Arg) n.4379T>G c.*2350+189T>G (n.*2350+189T>G) c.2733T>G (p.Ser911Arg) c.1917T>G (p.Ser639Arg) c.1824T>G (p.Ser608Arg) | |
14 | g.67782910A>G | CA486970641 | ZFYVE26 | c.4242T>C (p.Ser1414=) n.4379T>C c.*2350+189T>C (n.*2350+189T>C) c.2733T>C (p.Ser911=) c.1917T>C (p.Ser639=) c.1824T>C (p.Ser608=) | |
14 | g.67782910A>T | CA390170456 | ZFYVE26 | c.4242T>A (p.Ser1414Arg) n.4379T>A c.*2350+189T>A (n.*2350+189T>A) c.2733T>A (p.Ser911Arg) c.1917T>A (p.Ser639Arg) c.1824T>A (p.Ser608Arg) | |
14 | g.67782911C>A | CA390170458 | ZFYVE26 | c.4241G>T (p.Ser1414Ile) n.4378G>T c.*2350+188G>T (n.*2350+188G>T) c.2732G>T (p.Ser911Ile) c.1916G>T (p.Ser639Ile) c.1823G>T (p.Ser608Ile) | |
14 | g.67782911C= | CA2144027678 | ZFYVE26 | c.4241G= (p.Ser1414=) n.4378G= c.*2350+188G= (n.*2350+188G=) c.2732G= (p.Ser911=) c.1916G= (p.Ser639=) c.1823G= (p.Ser608=) | |
14 | g.67782911C>G | CA390170460 | ZFYVE26 | c.4241G>C (p.Ser1414Thr) n.4378G>C c.*2350+188G>C (n.*2350+188G>C) c.2732G>C (p.Ser911Thr) c.1916G>C (p.Ser639Thr) c.1823G>C (p.Ser608Thr) | |
14 | g.67782911C>T | CA390170462 | ZFYVE26 | c.4241G>A (p.Ser1414Asn) n.4378G>A c.*2350+188G>A (n.*2350+188G>A) c.2732G>A (p.Ser911Asn) c.1916G>A (p.Ser639Asn) c.1823G>A (p.Ser608Asn) | dbSNP |
14 | g.67782912T>A | CA390170467 | ZFYVE26 | c.4240A>T (p.Ser1414Cys) n.4377A>T c.*2350+187A>T (n.*2350+187A>T) c.2731A>T (p.Ser911Cys) c.1915A>T (p.Ser639Cys) c.1822A>T (p.Ser608Cys) | |
14 | g.67782912T>C | CA390170465 | ZFYVE26 | c.4240A>G (p.Ser1414Gly) n.4377A>G c.*2350+187A>G (n.*2350+187A>G) c.2731A>G (p.Ser911Gly) c.1915A>G (p.Ser639Gly) c.1822A>G (p.Ser608Gly) | |
14 | g.67782912T>G | CA390170463 | ZFYVE26 | c.4240A>C (p.Ser1414Arg) n.4377A>C c.*2350+187A>C (n.*2350+187A>C) c.2731A>C (p.Ser911Arg) c.1915A>C (p.Ser639Arg) c.1822A>C (p.Ser608Arg) | |
14 | g.67782913C>A | CA486970645 | ZFYVE26 | c.4239G>T (p.Leu1413=) n.4376G>T c.*2350+186G>T (n.*2350+186G>T) c.2730G>T (p.Leu910=) c.1914G>T (p.Leu638=) c.1821G>T (p.Leu607=) | |
14 | g.67782913C= | CA2144027679 | ZFYVE26 | c.4239G= (p.Leu1413=) n.4376G= c.*2350+186G= (n.*2350+186G=) c.2730G= (p.Leu910=) c.1914G= (p.Leu638=) c.1821G= (p.Leu607=) | |
14 | g.67782913C>G | CA486970646 | ZFYVE26 | c.4239G>C (p.Leu1413=) n.4376G>C c.*2350+186G>C (n.*2350+186G>C) c.2730G>C (p.Leu910=) c.1914G>C (p.Leu638=) c.1821G>C (p.Leu607=) | |
14 | g.67782913C>T | CA7239818 | ZFYVE26 | c.4239G>A (p.Leu1413=) n.4376G>A c.*2350+186G>A (n.*2350+186G>A) c.2730G>A (p.Leu910=) c.1914G>A (p.Leu638=) c.1821G>A (p.Leu607=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.67782914A= | CA2144027680 | ZFYVE26 | c.4238T= (p.Leu1413=) n.4375T= c.*2350+185T= (n.*2350+185T=) c.2729T= (p.Leu910=) c.1913T= (p.Leu638=) c.1820T= (p.Leu607=) | |
14 | g.67782914A>C | CA390170471 | ZFYVE26 | c.4238T>G (p.Leu1413Arg) n.4375T>G c.*2350+185T>G (n.*2350+185T>G) c.2729T>G (p.Leu910Arg) c.1913T>G (p.Leu638Arg) c.1820T>G (p.Leu607Arg) | |
14 | g.67782914A>G | CA390170472 | ZFYVE26 | c.4238T>C (p.Leu1413Pro) n.4375T>C c.*2350+185T>C (n.*2350+185T>C) c.2729T>C (p.Leu910Pro) c.1913T>C (p.Leu638Pro) c.1820T>C (p.Leu607Pro) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.67782914A>T | CA390170474 | ZFYVE26 | c.4238T>A (p.Leu1413Gln) n.4375T>A c.*2350+185T>A (n.*2350+185T>A) c.2729T>A (p.Leu910Gln) c.1913T>A (p.Leu638Gln) c.1820T>A (p.Leu607Gln) | |
14 | g.67782915G>A | CA486970650 | ZFYVE26 | c.4237C>T (p.Leu1413=) n.4374C>T c.*2350+184C>T (n.*2350+184C>T) c.2728C>T (p.Leu910=) c.1912C>T (p.Leu638=) c.1819C>T (p.Leu607=) | |
14 | g.67782915G>C | CA390170476 | ZFYVE26 | c.4237C>G (p.Leu1413Val) n.4374C>G c.*2350+184C>G (n.*2350+184C>G) c.2728C>G (p.Leu910Val) c.1912C>G (p.Leu638Val) c.1819C>G (p.Leu607Val) | |
14 | g.67782915G>T | CA390170478 | ZFYVE26 | c.4237C>A (p.Leu1413Met) n.4374C>A c.*2350+184C>A (n.*2350+184C>A) c.2728C>A (p.Leu910Met) c.1912C>A (p.Leu638Met) c.1819C>A (p.Leu607Met) | |
14 | g.67782916T>A | CA486970653 | ZFYVE26 | c.4236A>T (p.Val1412=) n.4373A>T c.*2350+183A>T (n.*2350+183A>T) c.2727A>T (p.Val909=) c.1911A>T (p.Val637=) c.1818A>T (p.Val606=) | |
14 | g.67782916T>C | CA486970654 | ZFYVE26 | c.4236A>G (p.Val1412=) n.4373A>G c.*2350+183A>G (n.*2350+183A>G) c.2727A>G (p.Val909=) c.1911A>G (p.Val637=) c.1818A>G (p.Val606=) | ClinVar dbSNP |
14 | g.67782916T>G | CA486970651 | ZFYVE26 | c.4236A>C (p.Val1412=) n.4373A>C c.*2350+183A>C (n.*2350+183A>C) c.2727A>C (p.Val909=) c.1911A>C (p.Val637=) c.1818A>C (p.Val606=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.67782916T= | CA2144027681 | ZFYVE26 | c.4236A= (p.Val1412=) n.4373A= c.*2350+183A= (n.*2350+183A=) c.2727A= (p.Val909=) c.1911A= (p.Val637=) c.1818A= (p.Val606=) | |
14 | g.67782917A= | CA2144027682 | ZFYVE26 | c.4235T= (p.Val1412=) n.4372T= c.*2350+182T= (n.*2350+182T=) c.2726T= (p.Val909=) c.1910T= (p.Val637=) c.1817T= (p.Val606=) | |
14 | g.67782917A>C | CA390170480 | ZFYVE26 | c.4235T>G (p.Val1412Gly) n.4372T>G c.*2350+182T>G (n.*2350+182T>G) c.2726T>G (p.Val909Gly) c.1910T>G (p.Val637Gly) c.1817T>G (p.Val606Gly) | |
14 | g.67782917A>G | CA390170484 | ZFYVE26 | c.4235T>C (p.Val1412Ala) n.4372T>C c.*2350+182T>C (n.*2350+182T>C) c.2726T>C (p.Val909Ala) c.1910T>C (p.Val637Ala) c.1817T>C (p.Val606Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.67782917A>T | CA390170482 | ZFYVE26 | c.4235T>A (p.Val1412Glu) n.4372T>A c.*2350+182T>A (n.*2350+182T>A) c.2726T>A (p.Val909Glu) c.1910T>A (p.Val637Glu) c.1817T>A (p.Val606Glu) | |
14 | g.67782918C>A | CA390170486 | ZFYVE26 | c.4234G>T (p.Val1412Leu) n.4371G>T c.*2350+181G>T (n.*2350+181G>T) c.2725G>T (p.Val909Leu) c.1909G>T (p.Val637Leu) c.1816G>T (p.Val606Leu) | |
14 | g.67782918C>G | CA390170488 | ZFYVE26 | c.4234G>C (p.Val1412Leu) n.4371G>C c.*2350+181G>C (n.*2350+181G>C) c.2725G>C (p.Val909Leu) c.1909G>C (p.Val637Leu) c.1816G>C (p.Val606Leu) | |
14 | g.67782918C>T | CA390170490 | ZFYVE26 | c.4234G>A (p.Val1412Ile) n.4371G>A c.*2350+181G>A (n.*2350+181G>A) c.2725G>A (p.Val909Ile) c.1909G>A (p.Val637Ile) c.1816G>A (p.Val606Ile) | |
14 | g.67782919A= | CA2144027683 | ZFYVE26 | c.4233T= (p.Asp1411=) n.4370T= c.*2350+180T= (n.*2350+180T=) c.2724T= (p.Asp908=) c.1908T= (p.Asp636=) c.1815T= (p.Asp605=) | |
14 | g.67782919A>C | CA390170491 | ZFYVE26 | c.4233T>G (p.Asp1411Glu) n.4370T>G c.*2350+180T>G (n.*2350+180T>G) c.2724T>G (p.Asp908Glu) c.1908T>G (p.Asp636Glu) c.1815T>G (p.Asp605Glu) | gnomAD v4 |
14 | g.67782919A>G | CA486970657 | ZFYVE26 | c.4233T>C (p.Asp1411=) n.4370T>C c.*2350+180T>C (n.*2350+180T>C) c.2724T>C (p.Asp908=) c.1908T>C (p.Asp636=) c.1815T>C (p.Asp605=) | ClinVar dbSNP |
14 | g.67782919A>T | CA390170493 | ZFYVE26 | c.4233T>A (p.Asp1411Glu) n.4370T>A c.*2350+180T>A (n.*2350+180T>A) c.2724T>A (p.Asp908Glu) c.1908T>A (p.Asp636Glu) c.1815T>A (p.Asp605Glu) | |
14 | g.67782920T>A | CA390170495 | ZFYVE26 | c.4232A>T (p.Asp1411Val) n.4369A>T c.*2350+179A>T (n.*2350+179A>T) c.2723A>T (p.Asp908Val) c.1907A>T (p.Asp636Val) c.1814A>T (p.Asp605Val) | |
14 | g.67782920T>C | CA390170497 | ZFYVE26 | c.4232A>G (p.Asp1411Gly) n.4369A>G c.*2350+179A>G (n.*2350+179A>G) c.2723A>G (p.Asp908Gly) c.1907A>G (p.Asp636Gly) c.1814A>G (p.Asp605Gly) | |
14 | g.67782920T>G | CA390170499 | ZFYVE26 | c.4232A>C (p.Asp1411Ala) n.4369A>C c.*2350+179A>C (n.*2350+179A>C) c.2723A>C (p.Asp908Ala) c.1907A>C (p.Asp636Ala) c.1814A>C (p.Asp605Ala) | gnomAD v4 |
14 | g.67782921C>A | CA390170501 | ZFYVE26 | c.4231G>T (p.Asp1411Tyr) n.4368G>T c.*2350+178G>T (n.*2350+178G>T) c.2722G>T (p.Asp908Tyr) c.1906G>T (p.Asp636Tyr) c.1813G>T (p.Asp605Tyr) | |
14 | g.67782921C>G | CA390170502 | ZFYVE26 | c.4231G>C (p.Asp1411His) n.4368G>C c.*2350+178G>C (n.*2350+178G>C) c.2722G>C (p.Asp908His) c.1906G>C (p.Asp636His) c.1813G>C (p.Asp605His) | |
14 | g.67782921C>T | CA390170504 | ZFYVE26 | c.4231G>A (p.Asp1411Asn) n.4368G>A c.*2350+178G>A (n.*2350+178G>A) c.2722G>A (p.Asp908Asn) c.1906G>A (p.Asp636Asn) c.1813G>A (p.Asp605Asn) | |
14 | g.67782922T>A | CA486970661 | ZFYVE26 | c.4230A>T (p.Leu1410=) n.4367A>T c.*2350+177A>T (n.*2350+177A>T) c.2721A>T (p.Leu907=) c.1905A>T (p.Leu635=) c.1812A>T (p.Leu604=) | |
14 | g.67782922T>C | CA486970662 | ZFYVE26 | c.4230A>G (p.Leu1410=) n.4367A>G c.*2350+177A>G (n.*2350+177A>G) c.2721A>G (p.Leu907=) c.1905A>G (p.Leu635=) c.1812A>G (p.Leu604=) | |
14 | g.67782922T>G | CA486970663 | ZFYVE26 | c.4230A>C (p.Leu1410=) n.4367A>C c.*2350+177A>C (n.*2350+177A>C) c.2721A>C (p.Leu907=) c.1905A>C (p.Leu635=) c.1812A>C (p.Leu604=) | |
14 | g.67782923A= | CA2144027684 | ZFYVE26 | c.4229T= (p.Leu1410=) n.4366T= c.*2350+176T= (n.*2350+176T=) c.2720T= (p.Leu907=) c.1904T= (p.Leu635=) c.1811T= (p.Leu604=) | |
14 | g.67782923A>C | CA390170510 | ZFYVE26 | c.4229T>G (p.Leu1410Arg) n.4366T>G c.*2350+176T>G (n.*2350+176T>G) c.2720T>G (p.Leu907Arg) c.1904T>G (p.Leu635Arg) c.1811T>G (p.Leu604Arg) | |
14 | g.67782923A>G | CA390170509 | ZFYVE26 | c.4229T>C (p.Leu1410Pro) n.4366T>C c.*2350+176T>C (n.*2350+176T>C) c.2720T>C (p.Leu907Pro) c.1904T>C (p.Leu635Pro) c.1811T>C (p.Leu604Pro) | COSMIC |
14 | g.67782923A>T | CA390170507 | ZFYVE26 | c.4229T>A (p.Leu1410Gln) n.4366T>A c.*2350+176T>A (n.*2350+176T>A) c.2720T>A (p.Leu907Gln) c.1904T>A (p.Leu635Gln) c.1811T>A (p.Leu604Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.67782924G>A | CA486970665 | ZFYVE26 | c.4228C>T (p.Leu1410=) n.4365C>T c.*2350+175C>T (n.*2350+175C>T) c.2719C>T (p.Leu907=) c.1903C>T (p.Leu635=) c.1810C>T (p.Leu604=) | ClinVar dbSNP |
14 | g.67782924G>C | CA390170512 | ZFYVE26 | c.4228C>G (p.Leu1410Val) n.4365C>G c.*2350+175C>G (n.*2350+175C>G) c.2719C>G (p.Leu907Val) c.1903C>G (p.Leu635Val) c.1810C>G (p.Leu604Val) | |
14 | g.67782924G= | CA2144027685 | ZFYVE26 | c.4228C= (p.Leu1410=) n.4365C= c.*2350+175C= (n.*2350+175C=) c.2719C= (p.Leu907=) c.1903C= (p.Leu635=) c.1810C= (p.Leu604=) | |
14 | g.67782924G>T | CA390170514 | ZFYVE26 | c.4228C>A (p.Leu1410Ile) n.4365C>A c.*2350+175C>A (n.*2350+175C>A) c.2719C>A (p.Leu907Ile) c.1903C>A (p.Leu635Ile) c.1810C>A (p.Leu604Ile) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.67782925G>A | CA486970666 | ZFYVE26 | c.4227C>T (p.Ala1409=) n.4364C>T c.*2350+174C>T (n.*2350+174C>T) c.2718C>T (p.Ala906=) c.1902C>T (p.Ala634=) c.1809C>T (p.Ala603=) | ClinVar gnomAD v4 |
14 | g.67782925G>C | CA486970667 | ZFYVE26 | c.4227C>G (p.Ala1409=) n.4364C>G c.*2350+174C>G (n.*2350+174C>G) c.2718C>G (p.Ala906=) c.1902C>G (p.Ala634=) c.1809C>G (p.Ala603=) | |
14 | g.67782925G>T | CA486970668 | ZFYVE26 | c.4227C>A (p.Ala1409=) n.4364C>A c.*2350+174C>A (n.*2350+174C>A) c.2718C>A (p.Ala906=) c.1902C>A (p.Ala634=) c.1809C>A (p.Ala603=) | |
14 | g.67782926G>A | CA390170516 | ZFYVE26 | c.4226C>T (p.Ala1409Val) n.4363C>T c.*2350+173C>T (n.*2350+173C>T) c.2717C>T (p.Ala906Val) c.1901C>T (p.Ala634Val) c.1808C>T (p.Ala603Val) | |
14 | g.67782926G>C | CA390170518 | ZFYVE26 | c.4226C>G (p.Ala1409Gly) n.4363C>G c.*2350+173C>G (n.*2350+173C>G) c.2717C>G (p.Ala906Gly) c.1901C>G (p.Ala634Gly) c.1808C>G (p.Ala603Gly) | |
14 | g.67782926G>T | CA390170520 | ZFYVE26 | c.4226C>A (p.Ala1409Asp) n.4363C>A c.*2350+173C>A (n.*2350+173C>A) c.2717C>A (p.Ala906Asp) c.1901C>A (p.Ala634Asp) c.1808C>A (p.Ala603Asp) | |
14 | g.67782927C>A | CA390170521 | ZFYVE26 | c.4225G>T (p.Ala1409Ser) n.4362G>T c.*2350+172G>T (n.*2350+172G>T) c.2716G>T (p.Ala906Ser) c.1900G>T (p.Ala634Ser) c.1807G>T (p.Ala603Ser) | dbSNP |
14 | g.67782927C= | CA2144027686 | ZFYVE26 | c.4225G= (p.Ala1409=) n.4362G= c.*2350+172G= (n.*2350+172G=) c.2716G= (p.Ala906=) c.1900G= (p.Ala634=) c.1807G= (p.Ala603=) | |
14 | g.67782927C>G | CA390170522 | ZFYVE26 | c.4225G>C (p.Ala1409Pro) n.4362G>C c.*2350+172G>C (n.*2350+172G>C) c.2716G>C (p.Ala906Pro) c.1900G>C (p.Ala634Pro) c.1807G>C (p.Ala603Pro) | |
14 | g.67782927C>T | CA390170523 | ZFYVE26 | c.4225G>A (p.Ala1409Thr) n.4362G>A c.*2350+172G>A (n.*2350+172G>A) c.2716G>A (p.Ala906Thr) c.1900G>A (p.Ala634Thr) c.1807G>A (p.Ala603Thr) | |
14 | g.67782928A>C | CA390170524 | ZFYVE26 | c.4224T>G (p.Ile1408Met) n.4361T>G c.*2350+171T>G (n.*2350+171T>G) c.2715T>G (p.Ile905Met) c.1899T>G (p.Ile633Met) c.1806T>G (p.Ile602Met) | |
14 | g.67782928A>G | CA486970671 | ZFYVE26 | c.4224T>C (p.Ile1408=) n.4361T>C c.*2350+171T>C (n.*2350+171T>C) c.2715T>C (p.Ile905=) c.1899T>C (p.Ile633=) c.1806T>C (p.Ile602=) | |
14 | g.67782928A>T | CA486970672 | ZFYVE26 | c.4224T>A (p.Ile1408=) n.4361T>A c.*2350+171T>A (n.*2350+171T>A) c.2715T>A (p.Ile905=) c.1899T>A (p.Ile633=) c.1806T>A (p.Ile602=) | |
14 | g.67782929A= | CA2144027687 | ZFYVE26 | c.4223T= (p.Ile1408=) n.4360T= c.*2350+170T= (n.*2350+170T=) c.2714T= (p.Ile905=) c.1898T= (p.Ile633=) c.1805T= (p.Ile602=) | |
14 | g.67782929A>C | CA390170526 | ZFYVE26 | c.4223T>G (p.Ile1408Ser) n.4360T>G c.*2350+170T>G (n.*2350+170T>G) c.2714T>G (p.Ile905Ser) c.1898T>G (p.Ile633Ser) c.1805T>G (p.Ile602Ser) | |
14 | g.67782929A>G | CA390170528 | ZFYVE26 | c.4223T>C (p.Ile1408Thr) n.4360T>C c.*2350+170T>C (n.*2350+170T>C) c.2714T>C (p.Ile905Thr) c.1898T>C (p.Ile633Thr) c.1805T>C (p.Ile602Thr) | dbSNP gnomAD v4 |
14 | g.67782929A>T | CA390170530 | ZFYVE26 | c.4223T>A (p.Ile1408Asn) n.4360T>A c.*2350+170T>A (n.*2350+170T>A) c.2714T>A (p.Ile905Asn) c.1898T>A (p.Ile633Asn) c.1805T>A (p.Ile602Asn) | |
14 | g.67782930T>A | CA390170532 | ZFYVE26 | c.4222A>T (p.Ile1408Phe) n.4359A>T c.*2350+169A>T (n.*2350+169A>T) c.2713A>T (p.Ile905Phe) c.1897A>T (p.Ile633Phe) c.1804A>T (p.Ile602Phe) | |
14 | g.67782930T>C | CA390170534 | ZFYVE26 | c.4222A>G (p.Ile1408Val) n.4359A>G c.*2350+169A>G (n.*2350+169A>G) c.2713A>G (p.Ile905Val) c.1897A>G (p.Ile633Val) c.1804A>G (p.Ile602Val) | COSMIC |
14 | g.67782930T>G | CA390170536 | ZFYVE26 | c.4222A>C (p.Ile1408Leu) n.4359A>C c.*2350+169A>C (n.*2350+169A>C) c.2713A>C (p.Ile905Leu) c.1897A>C (p.Ile633Leu) c.1804A>C (p.Ile602Leu) | |
14 | g.67782930_67782931delinsTG | CA2144027688 | ZFYVE26 | c.4221_4222delinsCA (p.Pro1407=) n.4358_4359delinsCA c.*2350+168_*2350+169delinsCA (n.*2350+168_*2350+169delinsCA) c.2712_2713delinsCA (p.Pro904=) c.1896_1897delinsCA (p.Pro632=) c.1803_1804delinsCA (p.Pro601=) | |
14 | g.67782931G>A | CA486970674 | ZFYVE26 | c.4221C>T (p.Pro1407=) n.4358C>T c.*2350+168C>T (n.*2350+168C>T) c.2712C>T (p.Pro904=) c.1896C>T (p.Pro632=) c.1803C>T (p.Pro601=) | ClinVar dbSNP gnomAD v4 |
14 | g.67782931G>C | CA486970675 | ZFYVE26 | c.4221C>G (p.Pro1407=) n.4358C>G c.*2350+168C>G (n.*2350+168C>G) c.2712C>G (p.Pro904=) c.1896C>G (p.Pro632=) c.1803C>G (p.Pro601=) | |
14 | g.67782931G>T | CA486970677 | ZFYVE26 | c.4221C>A (p.Pro1407=) n.4358C>A c.*2350+168C>A (n.*2350+168C>A) c.2712C>A (p.Pro904=) c.1896C>A (p.Pro632=) c.1803C>A (p.Pro601=) | |
14 | g.67782933del | CA919441778 | ZFYVE26 | c.4221del (p.Ile1408LeufsTer3) n.4358del c.*2350+168del (n.*2350+168del) c.2712del (p.Ile905LeufsTer3) c.1896del (p.Ile633LeufsTer3) c.1803del (p.Ile602LeufsTer3) | dbSNP |
14 | g.67782932G>A | CA390170541 | ZFYVE26 | c.4220C>T (p.Pro1407Leu) n.4357C>T c.*2350+167C>T (n.*2350+167C>T) c.2711C>T (p.Pro904Leu) c.1895C>T (p.Pro632Leu) c.1802C>T (p.Pro601Leu) | |
14 | g.67782932G>C | CA390170538 | ZFYVE26 | c.4220C>G (p.Pro1407Arg) n.4357C>G c.*2350+167C>G (n.*2350+167C>G) c.2711C>G (p.Pro904Arg) c.1895C>G (p.Pro632Arg) c.1802C>G (p.Pro601Arg) | COSMIC |
14 | g.67782932G>T | CA390170540 | ZFYVE26 | c.4220C>A (p.Pro1407His) n.4357C>A c.*2350+167C>A (n.*2350+167C>A) c.2711C>A (p.Pro904His) c.1895C>A (p.Pro632His) c.1802C>A (p.Pro601His) | |
14 | g.67782933G>A | CA390170544 | ZFYVE26 | c.4219C>T (p.Pro1407Ser) n.4356C>T c.*2350+166C>T (n.*2350+166C>T) c.2710C>T (p.Pro904Ser) c.1894C>T (p.Pro632Ser) c.1801C>T (p.Pro601Ser) | COSMIC |
14 | g.67782933G>C | CA390170545 | ZFYVE26 | c.4219C>G (p.Pro1407Ala) n.4356C>G c.*2350+166C>G (n.*2350+166C>G) c.2710C>G (p.Pro904Ala) c.1894C>G (p.Pro632Ala) c.1801C>G (p.Pro601Ala) | |
14 | g.67782933G>T | CA390170547 | ZFYVE26 | c.4219C>A (p.Pro1407Thr) n.4356C>A c.*2350+166C>A (n.*2350+166C>A) c.2710C>A (p.Pro904Thr) c.1894C>A (p.Pro632Thr) c.1801C>A (p.Pro601Thr) | |
14 | g.67782934A>C | CA486970681 | ZFYVE26 | c.4218T>G (p.Ser1406=) n.4355T>G c.*2350+165T>G (n.*2350+165T>G) c.2709T>G (p.Ser903=) c.1893T>G (p.Ser631=) c.1800T>G (p.Ser600=) | |
14 | g.67782934A>G | CA486970683 | ZFYVE26 | c.4218T>C (p.Ser1406=) n.4355T>C c.*2350+165T>C (n.*2350+165T>C) c.2709T>C (p.Ser903=) c.1893T>C (p.Ser631=) c.1800T>C (p.Ser600=) | |
14 | g.67782934A>T | CA486970685 | ZFYVE26 | c.4218T>A (p.Ser1406=) n.4355T>A c.*2350+165T>A (n.*2350+165T>A) c.2709T>A (p.Ser903=) c.1893T>A (p.Ser631=) c.1800T>A (p.Ser600=) | |
14 | g.67782935G>A | CA390170549 | ZFYVE26 | c.4217C>T (p.Ser1406Phe) n.4354C>T c.*2350+164C>T (n.*2350+164C>T) c.2708C>T (p.Ser903Phe) c.1892C>T (p.Ser631Phe) c.1799C>T (p.Ser600Phe) | |
14 | g.67782935G>C | CA390170551 | ZFYVE26 | c.4217C>G (p.Ser1406Cys) n.4354C>G c.*2350+164C>G (n.*2350+164C>G) c.2708C>G (p.Ser903Cys) c.1892C>G (p.Ser631Cys) c.1799C>G (p.Ser600Cys) | gnomAD v4 |
14 | g.67782935G>T | CA390170553 | ZFYVE26 | c.4217C>A (p.Ser1406Tyr) n.4354C>A c.*2350+164C>A (n.*2350+164C>A) c.2708C>A (p.Ser903Tyr) c.1892C>A (p.Ser631Tyr) c.1799C>A (p.Ser600Tyr) | |
14 | g.67782936A>C | CA390170554 | ZFYVE26 | c.4216T>G (p.Ser1406Ala) n.4353T>G c.*2350+163T>G (n.*2350+163T>G) c.2707T>G (p.Ser903Ala) c.1891T>G (p.Ser631Ala) c.1798T>G (p.Ser600Ala) | |
14 | g.67782936A>G | CA390170555 | ZFYVE26 | c.4216T>C (p.Ser1406Pro) n.4353T>C c.*2350+163T>C (n.*2350+163T>C) c.2707T>C (p.Ser903Pro) c.1891T>C (p.Ser631Pro) c.1798T>C (p.Ser600Pro) | |
14 | g.67782936A>T | CA390170557 | ZFYVE26 | c.4216T>A (p.Ser1406Thr) n.4353T>A c.*2350+163T>A (n.*2350+163T>A) c.2707T>A (p.Ser903Thr) c.1891T>A (p.Ser631Thr) c.1798T>A (p.Ser600Thr) | |
14 | g.67782937A= | CA2144027689 | ZFYVE26 | c.4215T= (p.His1405=) n.4352T= c.*2350+162T= (n.*2350+162T=) c.2706T= (p.His902=) c.1890T= (p.His630=) c.1797T= (p.His599=) | |
14 | g.67782937A>C | CA390170559 | ZFYVE26 | c.4215T>G (p.His1405Gln) n.4352T>G c.*2350+162T>G (n.*2350+162T>G) c.2706T>G (p.His902Gln) c.1890T>G (p.His630Gln) c.1797T>G (p.His599Gln) | |
14 | g.67782937A>G | CA486970690 | ZFYVE26 | c.4215T>C (p.His1405=) n.4352T>C c.*2350+162T>C (n.*2350+162T>C) c.2706T>C (p.His902=) c.1890T>C (p.His630=) c.1797T>C (p.His599=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.67782937A>T | CA390170560 | ZFYVE26 | c.4215T>A (p.His1405Gln) n.4352T>A c.*2350+162T>A (n.*2350+162T>A) c.2706T>A (p.His902Gln) c.1890T>A (p.His630Gln) c.1797T>A (p.His599Gln) | |
14 | g.67782938T>A | CA390170567 | ZFYVE26 | c.4214A>T (p.His1405Leu) n.4351A>T c.*2350+161A>T (n.*2350+161A>T) c.2705A>T (p.His902Leu) c.1889A>T (p.His630Leu) c.1796A>T (p.His599Leu) | gnomAD v4 |
14 | g.67782938T>C | CA390170565 | ZFYVE26 | c.4214A>G (p.His1405Arg) n.4351A>G c.*2350+161A>G (n.*2350+161A>G) c.2705A>G (p.His902Arg) c.1889A>G (p.His630Arg) c.1796A>G (p.His599Arg) | gnomAD v4 COSMIC |
14 | g.67782938T>G | CA390170563 | ZFYVE26 | c.4214A>C (p.His1405Pro) n.4351A>C c.*2350+161A>C (n.*2350+161A>C) c.2705A>C (p.His902Pro) c.1889A>C (p.His630Pro) c.1796A>C (p.His599Pro) | |
14 | g.67782939G>A | CA390170569 | ZFYVE26 | c.4213C>T (p.His1405Tyr) n.4350C>T c.*2350+160C>T (n.*2350+160C>T) c.2704C>T (p.His902Tyr) c.1888C>T (p.His630Tyr) c.1795C>T (p.His599Tyr) | gnomAD v4 |
14 | g.67782939G>C | CA390170571 | ZFYVE26 | c.4213C>G (p.His1405Asp) n.4350C>G c.*2350+160C>G (n.*2350+160C>G) c.2704C>G (p.His902Asp) c.1888C>G (p.His630Asp) c.1795C>G (p.His599Asp) | |
14 | g.67782939G>T | CA390170572 | ZFYVE26 | c.4213C>A (p.His1405Asn) n.4350C>A c.*2350+160C>A (n.*2350+160C>A) c.2704C>A (p.His902Asn) c.1888C>A (p.His630Asn) c.1795C>A (p.His599Asn) | |
14 | g.67782940T>A | CA7239819 | ZFYVE26 | c.4212A>T (p.Leu1404=) n.4349A>T c.*2350+159A>T (n.*2350+159A>T) c.2703A>T (p.Leu901=) c.1887A>T (p.Leu629=) c.1794A>T (p.Leu598=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.67782940T>C | CA486970691 | ZFYVE26 | c.4212A>G (p.Leu1404=) n.4349A>G c.*2350+159A>G (n.*2350+159A>G) c.2703A>G (p.Leu901=) c.1887A>G (p.Leu629=) c.1794A>G (p.Leu598=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.67782940T>G | CA486970692 | ZFYVE26 | c.4212A>C (p.Leu1404=) n.4349A>C c.*2350+159A>C (n.*2350+159A>C) c.2703A>C (p.Leu901=) c.1887A>C (p.Leu629=) c.1794A>C (p.Leu598=) | |
14 | g.67782940T= | CA2144027690 | ZFYVE26 | c.4212A= (p.Leu1404=) n.4349A= c.*2350+159A= (n.*2350+159A=) c.2703A= (p.Leu901=) c.1887A= (p.Leu629=) c.1794A= (p.Leu598=) | |
14 | g.67782941A= | CA2144027691 | ZFYVE26 | c.4211T= (p.Leu1404=) n.4348T= c.*2350+158T= (n.*2350+158T=) c.2702T= (p.Leu901=) c.1886T= (p.Leu629=) c.1793T= (p.Leu598=) | |
14 | g.67782941A>C | CA390170576 | ZFYVE26 | c.4211T>G (p.Leu1404Arg) n.4348T>G c.*2350+158T>G (n.*2350+158T>G) c.2702T>G (p.Leu901Arg) c.1886T>G (p.Leu629Arg) c.1793T>G (p.Leu598Arg) | |
14 | g.67782941A>G | CA390170577 | ZFYVE26 | c.4211T>C (p.Leu1404Pro) n.4348T>C c.*2350+158T>C (n.*2350+158T>C) c.2702T>C (p.Leu901Pro) c.1886T>C (p.Leu629Pro) c.1793T>C (p.Leu598Pro) | dbSNP |
14 | g.67782941A>T | CA390170580 | ZFYVE26 | c.4211T>A (p.Leu1404Gln) n.4348T>A c.*2350+158T>A (n.*2350+158T>A) c.2702T>A (p.Leu901Gln) c.1886T>A (p.Leu629Gln) c.1793T>A (p.Leu598Gln) | |
14 | g.67782942G>A | CA486970693 | ZFYVE26 | c.4210C>T (p.Leu1404=) n.4347C>T c.*2350+157C>T (n.*2350+157C>T) c.2701C>T (p.Leu901=) c.1885C>T (p.Leu629=) c.1792C>T (p.Leu598=) | |
14 | g.67782942G>C | CA390170582 | ZFYVE26 | c.4210C>G (p.Leu1404Val) n.4347C>G c.*2350+157C>G (n.*2350+157C>G) c.2701C>G (p.Leu901Val) c.1885C>G (p.Leu629Val) c.1792C>G (p.Leu598Val) | |
14 | g.67782942G>T | CA390170584 | ZFYVE26 | c.4210C>A (p.Leu1404Ile) n.4347C>A c.*2350+157C>A (n.*2350+157C>A) c.2701C>A (p.Leu901Ile) c.1885C>A (p.Leu629Ile) c.1792C>A (p.Leu598Ile) | |
14 | g.67782943G>A | CA486970695 | ZFYVE26 | c.4209C>T (p.Gly1403=) n.4346C>T c.*2350+156C>T (n.*2350+156C>T) c.2700C>T (p.Gly900=) c.1884C>T (p.Gly628=) c.1791C>T (p.Gly597=) | |
14 | g.67782943G>C | CA486970696 | ZFYVE26 | c.4209C>G (p.Gly1403=) n.4346C>G c.*2350+156C>G (n.*2350+156C>G) c.2700C>G (p.Gly900=) c.1884C>G (p.Gly628=) c.1791C>G (p.Gly597=) | |
14 | g.67782943G>T | CA486970697 | ZFYVE26 | c.4209C>A (p.Gly1403=) n.4346C>A c.*2350+156C>A (n.*2350+156C>A) c.2700C>A (p.Gly900=) c.1884C>A (p.Gly628=) c.1791C>A (p.Gly597=) | |
14 | g.67782944C>A | CA390170586 | ZFYVE26 | c.4208G>T (p.Gly1403Val) n.4345G>T c.*2350+155G>T (n.*2350+155G>T) c.2699G>T (p.Gly900Val) c.1883G>T (p.Gly628Val) c.1790G>T (p.Gly597Val) | |
14 | g.67782944C>G | CA390170587 | ZFYVE26 | c.4208G>C (p.Gly1403Ala) n.4345G>C c.*2350+155G>C (n.*2350+155G>C) c.2699G>C (p.Gly900Ala) c.1883G>C (p.Gly628Ala) c.1790G>C (p.Gly597Ala) | |
14 | g.67782944C>T | CA390170589 | ZFYVE26 | c.4208G>A (p.Gly1403Asp) n.4345G>A c.*2350+155G>A (n.*2350+155G>A) c.2699G>A (p.Gly900Asp) c.1883G>A (p.Gly628Asp) c.1790G>A (p.Gly597Asp) | |
14 | g.67782945C>A | CA390170593 | ZFYVE26 | c.4207G>T (p.Gly1403Cys) n.4344G>T c.*2350+154G>T (n.*2350+154G>T) c.2698G>T (p.Gly900Cys) c.1882G>T (p.Gly628Cys) c.1789G>T (p.Gly597Cys) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.67782945C= | CA2144027692 | ZFYVE26 | c.4207G= (p.Gly1403=) n.4344G= c.*2350+154G= (n.*2350+154G=) c.2698G= (p.Gly900=) c.1882G= (p.Gly628=) c.1789G= (p.Gly597=) | |
14 | g.67782945C>G | CA390170594 | ZFYVE26 | c.4207G>C (p.Gly1403Arg) n.4344G>C c.*2350+154G>C (n.*2350+154G>C) c.2698G>C (p.Gly900Arg) c.1882G>C (p.Gly628Arg) c.1789G>C (p.Gly597Arg) | |
14 | g.67782945C>T | CA390170591 | ZFYVE26 | c.4207G>A (p.Gly1403Ser) n.4344G>A c.*2350+154G>A (n.*2350+154G>A) c.2698G>A (p.Gly900Ser) c.1882G>A (p.Gly628Ser) c.1789G>A (p.Gly597Ser) | |
14 | g.67782946C>A | CA486970699 | ZFYVE26 | c.4206G>T (p.Leu1402=) n.4343G>T c.*2350+153G>T (n.*2350+153G>T) c.2697G>T (p.Leu899=) c.1881G>T (p.Leu627=) c.1788G>T (p.Leu596=) | |
14 | g.67782946C= | CA2144027693 | ZFYVE26 | c.4206G= (p.Leu1402=) n.4343G= c.*2350+153G= (n.*2350+153G=) c.2697G= (p.Leu899=) c.1881G= (p.Leu627=) c.1788G= (p.Leu596=) | |
14 | g.67782946C>G | CA486970701 | ZFYVE26 | c.4206G>C (p.Leu1402=) n.4343G>C c.*2350+153G>C (n.*2350+153G>C) c.2697G>C (p.Leu899=) c.1881G>C (p.Leu627=) c.1788G>C (p.Leu596=) | |
14 | g.67782946C>T | CA486970702 | ZFYVE26 | c.4206G>A (p.Leu1402=) n.4343G>A c.*2350+153G>A (n.*2350+153G>A) c.2697G>A (p.Leu899=) c.1881G>A (p.Leu627=) c.1788G>A (p.Leu596=) | dbSNP |
14 | g.67782947A= | CA2144027694 | ZFYVE26 | c.4205T= (p.Leu1402=) n.4342T= c.*2350+152T= (n.*2350+152T=) c.2696T= (p.Leu899=) c.1880T= (p.Leu627=) c.1787T= (p.Leu596=) | |
14 | g.67782947A>C | CA390170595 | ZFYVE26 | c.4205T>G (p.Leu1402Arg) n.4342T>G c.*2350+152T>G (n.*2350+152T>G) c.2696T>G (p.Leu899Arg) c.1880T>G (p.Leu627Arg) c.1787T>G (p.Leu596Arg) | |
14 | g.67782947A>G | CA390170596 | ZFYVE26 | c.4205T>C (p.Leu1402Pro) n.4342T>C c.*2350+152T>C (n.*2350+152T>C) c.2696T>C (p.Leu899Pro) c.1880T>C (p.Leu627Pro) c.1787T>C (p.Leu596Pro) | dbSNP gnomAD v4 |
14 | g.67782947A>T | CA390170597 | ZFYVE26 | c.4205T>A (p.Leu1402Gln) n.4342T>A c.*2350+152T>A (n.*2350+152T>A) c.2696T>A (p.Leu899Gln) c.1880T>A (p.Leu627Gln) c.1787T>A (p.Leu596Gln) | |
14 | g.67782948G>A | CA486970703 | ZFYVE26 | c.4204C>T (p.Leu1402=) n.4341C>T c.*2350+151C>T (n.*2350+151C>T) c.2695C>T (p.Leu899=) c.1879C>T (p.Leu627=) c.1786C>T (p.Leu596=) | |
14 | g.67782948G>C | CA390170599 | ZFYVE26 | c.4204C>G (p.Leu1402Val) n.4341C>G c.*2350+151C>G (n.*2350+151C>G) c.2695C>G (p.Leu899Val) c.1879C>G (p.Leu627Val) c.1786C>G (p.Leu596Val) | |
14 | g.67782948G>T | CA390170600 | ZFYVE26 | c.4204C>A (p.Leu1402Met) n.4341C>A c.*2350+151C>A (n.*2350+151C>A) c.2695C>A (p.Leu899Met) c.1879C>A (p.Leu627Met) c.1786C>A (p.Leu596Met) | |
14 | g.67782949G>A | CA262848639 | ZFYVE26 | c.4203C>T (p.Leu1401=) n.4340C>T c.*2350+150C>T (n.*2350+150C>T) c.2694C>T (p.Leu898=) c.1878C>T (p.Leu626=) c.1785C>T (p.Leu595=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.67782949G>C | CA486970708 | ZFYVE26 | c.4203C>G (p.Leu1401=) n.4340C>G c.*2350+150C>G (n.*2350+150C>G) c.2694C>G (p.Leu898=) c.1878C>G (p.Leu626=) c.1785C>G (p.Leu595=) | |
14 | g.67782949G= | CA2144027695 | ZFYVE26 | c.4203C= (p.Leu1401=) n.4340C= c.*2350+150C= (n.*2350+150C=) c.2694C= (p.Leu898=) c.1878C= (p.Leu626=) c.1785C= (p.Leu595=) | |
14 | g.67782949G>T | CA486970707 | ZFYVE26 | c.4203C>A (p.Leu1401=) n.4340C>A c.*2350+150C>A (n.*2350+150C>A) c.2694C>A (p.Leu898=) c.1878C>A (p.Leu626=) c.1785C>A (p.Leu595=) | |
14 | g.67782950A>C | CA390170607 | ZFYVE26 | c.4202T>G (p.Leu1401Arg) n.4339T>G c.*2350+149T>G (n.*2350+149T>G) c.2693T>G (p.Leu898Arg) c.1877T>G (p.Leu626Arg) c.1784T>G (p.Leu595Arg) | gnomAD v4 |
14 | g.67782950A>G | CA390170602 | ZFYVE26 | c.4202T>C (p.Leu1401Pro) n.4339T>C c.*2350+149T>C (n.*2350+149T>C) c.2693T>C (p.Leu898Pro) c.1877T>C (p.Leu626Pro) c.1784T>C (p.Leu595Pro) | |
14 | g.67782950A>T | CA390170604 | ZFYVE26 | c.4202T>A (p.Leu1401His) n.4339T>A c.*2350+149T>A (n.*2350+149T>A) c.2693T>A (p.Leu898His) c.1877T>A (p.Leu626His) c.1784T>A (p.Leu595His) | |
14 | g.67782951G>A | CA390170608 | ZFYVE26 | c.4201C>T (p.Leu1401Phe) n.4338C>T c.*2350+148C>T (n.*2350+148C>T) c.2692C>T (p.Leu898Phe) c.1876C>T (p.Leu626Phe) c.1783C>T (p.Leu595Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.67782951G>C | CA390170610 | ZFYVE26 | c.4201C>G (p.Leu1401Val) n.4338C>G c.*2350+148C>G (n.*2350+148C>G) c.2692C>G (p.Leu898Val) c.1876C>G (p.Leu626Val) c.1783C>G (p.Leu595Val) | gnomAD v4 |
14 | g.67782951G= | CA2144027696 | ZFYVE26 | c.4201C= (p.Leu1401=) n.4338C= c.*2350+148C= (n.*2350+148C=) c.2692C= (p.Leu898=) c.1876C= (p.Leu626=) c.1783C= (p.Leu595=) | |
14 | g.67782951G>T | CA390170612 | ZFYVE26 | c.4201C>A (p.Leu1401Ile) n.4338C>A c.*2350+148C>A (n.*2350+148C>A) c.2692C>A (p.Leu898Ile) c.1876C>A (p.Leu626Ile) c.1783C>A (p.Leu595Ile) | |
14 | g.67782952A>C | CA486970713 | ZFYVE26 | c.4200T>G (p.Val1400=) n.4337T>G c.*2350+147T>G (n.*2350+147T>G) c.2691T>G (p.Val897=) c.1875T>G (p.Val625=) c.1782T>G (p.Val594=) | |
14 | g.67782952A>G | CA486970714 | ZFYVE26 | c.4200T>C (p.Val1400=) n.4337T>C c.*2350+147T>C (n.*2350+147T>C) c.2691T>C (p.Val897=) c.1875T>C (p.Val625=) c.1782T>C (p.Val594=) | gnomAD v4 |
14 | g.67782952A>T | CA486970715 | ZFYVE26 | c.4200T>A (p.Val1400=) n.4337T>A c.*2350+147T>A (n.*2350+147T>A) c.2691T>A (p.Val897=) c.1875T>A (p.Val625=) c.1782T>A (p.Val594=) | |
14 | g.67782953A>C | CA390170613 | ZFYVE26 | c.4199T>G (p.Val1400Gly) n.4336T>G c.*2350+146T>G (n.*2350+146T>G) c.2690T>G (p.Val897Gly) c.1874T>G (p.Val625Gly) c.1781T>G (p.Val594Gly) | |
14 | g.67782953A>G | CA390170614 | ZFYVE26 | c.4199T>C (p.Val1400Ala) n.4336T>C c.*2350+146T>C (n.*2350+146T>C) c.2690T>C (p.Val897Ala) c.1874T>C (p.Val625Ala) c.1781T>C (p.Val594Ala) | |
14 | g.67782953A>T | CA390170616 | ZFYVE26 | c.4199T>A (p.Val1400Asp) n.4336T>A c.*2350+146T>A (n.*2350+146T>A) c.2690T>A (p.Val897Asp) c.1874T>A (p.Val625Asp) c.1781T>A (p.Val594Asp) | |
14 | g.67782954C>A | CA390170620 | ZFYVE26 | c.4198G>T (p.Val1400Phe) n.4335G>T c.*2350+145G>T (n.*2350+145G>T) c.2689G>T (p.Val897Phe) c.1873G>T (p.Val625Phe) c.1780G>T (p.Val594Phe) | dbSNP gnomAD v4 |
14 | g.67782954C= | CA2144027697 | ZFYVE26 | c.4198G= (p.Val1400=) n.4335G= c.*2350+145G= (n.*2350+145G=) c.2689G= (p.Val897=) c.1873G= (p.Val625=) c.1780G= (p.Val594=) | |
14 | g.67782954C>G | CA390170622 | ZFYVE26 | c.4198G>C (p.Val1400Leu) n.4335G>C c.*2350+145G>C (n.*2350+145G>C) c.2689G>C (p.Val897Leu) c.1873G>C (p.Val625Leu) c.1780G>C (p.Val594Leu) | |
14 | g.67782954C>T | CA7239820 | ZFYVE26 | c.4198G>A (p.Val1400Ile) n.4335G>A c.*2350+145G>A (n.*2350+145G>A) c.2689G>A (p.Val897Ile) c.1873G>A (p.Val625Ile) c.1780G>A (p.Val594Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.67782955G>A | CA206139 | ZFYVE26 | c.4197C>T (p.Thr1399=) n.4334C>T c.*2350+144C>T (n.*2350+144C>T) c.2688C>T (p.Thr896=) c.1872C>T (p.Thr624=) c.1779C>T (p.Thr593=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.67782955G>C | CA486970720 | ZFYVE26 | c.4197C>G (p.Thr1399=) n.4334C>G c.*2350+144C>G (n.*2350+144C>G) c.2688C>G (p.Thr896=) c.1872C>G (p.Thr624=) c.1779C>G (p.Thr593=) | |
14 | g.67782955G= | CA2144027698 | ZFYVE26 | c.4197C= (p.Thr1399=) n.4334C= c.*2350+144C= (n.*2350+144C=) c.2688C= (p.Thr896=) c.1872C= (p.Thr624=) c.1779C= (p.Thr593=) | |
14 | g.67782955G>T | CA7239821 | ZFYVE26 | c.4197C>A (p.Thr1399=) n.4334C>A c.*2350+144C>A (n.*2350+144C>A) c.2688C>A (p.Thr896=) c.1872C>A (p.Thr624=) c.1779C>A (p.Thr593=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.67782956G>A | CA390170631 | ZFYVE26 | c.4196C>T (p.Thr1399Ile) n.4333C>T c.*2350+143C>T (n.*2350+143C>T) c.2687C>T (p.Thr896Ile) c.1871C>T (p.Thr624Ile) c.1778C>T (p.Thr593Ile) | |
14 | g.67782956G>C | CA390170635 | ZFYVE26 | c.4196C>G (p.Thr1399Ser) n.4333C>G c.*2350+143C>G (n.*2350+143C>G) c.2687C>G (p.Thr896Ser) c.1871C>G (p.Thr624Ser) c.1778C>G (p.Thr593Ser) | |
14 | g.67782956G>T | CA390170633 | ZFYVE26 | c.4196C>A (p.Thr1399Asn) n.4333C>A c.*2350+143C>A (n.*2350+143C>A) c.2687C>A (p.Thr896Asn) c.1871C>A (p.Thr624Asn) c.1778C>A (p.Thr593Asn) | |
14 | g.67782957T>A | CA390170637 | ZFYVE26 | c.4195A>T (p.Thr1399Ser) n.4332A>T c.*2350+142A>T (n.*2350+142A>T) c.2686A>T (p.Thr896Ser) c.1870A>T (p.Thr624Ser) c.1777A>T (p.Thr593Ser) | |
14 | g.67782957T>C | CA390170642 | ZFYVE26 | c.4195A>G (p.Thr1399Ala) n.4332A>G c.*2350+142A>G (n.*2350+142A>G) c.2686A>G (p.Thr896Ala) c.1870A>G (p.Thr624Ala) c.1777A>G (p.Thr593Ala) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.67782957T>G | CA390170640 | ZFYVE26 | c.4195A>C (p.Thr1399Pro) n.4332A>C c.*2350+142A>C (n.*2350+142A>C) c.2686A>C (p.Thr896Pro) c.1870A>C (p.Thr624Pro) c.1777A>C (p.Thr593Pro) | |
14 | g.67782957T= | CA2144027699 | ZFYVE26 | c.4195A= (p.Thr1399=) n.4332A= c.*2350+142A= (n.*2350+142A=) c.2686A= (p.Thr896=) c.1870A= (p.Thr624=) c.1777A= (p.Thr593=) | |
14 | g.67782958A>C | CA486970721 | ZFYVE26 | c.4194T>G (p.Ser1398=) n.4331T>G c.*2350+141T>G (n.*2350+141T>G) c.2685T>G (p.Ser895=) c.1869T>G (p.Ser623=) c.1776T>G (p.Ser592=) | |
14 | g.67782958A>G | CA486970722 | ZFYVE26 | c.4194T>C (p.Ser1398=) n.4331T>C c.*2350+141T>C (n.*2350+141T>C) c.2685T>C (p.Ser895=) c.1869T>C (p.Ser623=) c.1776T>C (p.Ser592=) | |
14 | g.67782958A>T | CA486970723 | ZFYVE26 | c.4194T>A (p.Ser1398=) n.4331T>A c.*2350+141T>A (n.*2350+141T>A) c.2685T>A (p.Ser895=) c.1869T>A (p.Ser623=) c.1776T>A (p.Ser592=) | |
14 | g.67782959G>A | CA390170643 | ZFYVE26 | c.4193C>T (p.Ser1398Phe) n.4330C>T c.*2350+140C>T (n.*2350+140C>T) c.2684C>T (p.Ser895Phe) c.1868C>T (p.Ser623Phe) c.1775C>T (p.Ser592Phe) | |
14 | g.67782959G>C | CA390170644 | ZFYVE26 | c.4193C>G (p.Ser1398Cys) n.4330C>G c.*2350+140C>G (n.*2350+140C>G) c.2684C>G (p.Ser895Cys) c.1868C>G (p.Ser623Cys) c.1775C>G (p.Ser592Cys) | |
14 | g.67782959G>T | CA390170645 | ZFYVE26 | c.4193C>A (p.Ser1398Tyr) n.4330C>A c.*2350+140C>A (n.*2350+140C>A) c.2684C>A (p.Ser895Tyr) c.1868C>A (p.Ser623Tyr) c.1775C>A (p.Ser592Tyr) | |
14 | g.67782960A>C | CA390170646 | ZFYVE26 | c.4192T>G (p.Ser1398Ala) n.4329T>G c.*2350+139T>G (n.*2350+139T>G) c.2683T>G (p.Ser895Ala) c.1867T>G (p.Ser623Ala) c.1774T>G (p.Ser592Ala) | |
14 | g.67782960A>G | CA390170647 | ZFYVE26 | c.4192T>C (p.Ser1398Pro) n.4329T>C c.*2350+139T>C (n.*2350+139T>C) c.2683T>C (p.Ser895Pro) c.1867T>C (p.Ser623Pro) c.1774T>C (p.Ser592Pro) | |
14 | g.67782960A>T | CA390170648 | ZFYVE26 | c.4192T>A (p.Ser1398Thr) n.4329T>A c.*2350+139T>A (n.*2350+139T>A) c.2683T>A (p.Ser895Thr) c.1867T>A (p.Ser623Thr) c.1774T>A (p.Ser592Thr) | |
14 | g.67782961A>C | CA486970724 | ZFYVE26 | c.4191T>G (p.Leu1397=) n.4328T>G c.*2350+138T>G (n.*2350+138T>G) c.2682T>G (p.Leu894=) c.1866T>G (p.Leu622=) c.1773T>G (p.Leu591=) | gnomAD v4 |
14 | g.67782961A>G | CA486970725 | ZFYVE26 | c.4191T>C (p.Leu1397=) n.4328T>C c.*2350+138T>C (n.*2350+138T>C) c.2682T>C (p.Leu894=) c.1866T>C (p.Leu622=) c.1773T>C (p.Leu591=) | |
14 | g.67782961A>T | CA486970726 | ZFYVE26 | c.4191T>A (p.Leu1397=) n.4328T>A c.*2350+138T>A (n.*2350+138T>A) c.2682T>A (p.Leu894=) c.1866T>A (p.Leu622=) c.1773T>A (p.Leu591=) | |
14 | g.67782962A>C | CA390170649 | ZFYVE26 | c.4190T>G (p.Leu1397Arg) n.4327T>G c.*2350+137T>G (n.*2350+137T>G) c.2681T>G (p.Leu894Arg) c.1865T>G (p.Leu622Arg) c.1772T>G (p.Leu591Arg) | gnomAD v4 |
14 | g.67782962A>G | CA390170650 | ZFYVE26 | c.4190T>C (p.Leu1397Pro) n.4327T>C c.*2350+137T>C (n.*2350+137T>C) c.2681T>C (p.Leu894Pro) c.1865T>C (p.Leu622Pro) c.1772T>C (p.Leu591Pro) | |
14 | g.67782962A>T | CA390170651 | ZFYVE26 | c.4190T>A (p.Leu1397His) n.4327T>A c.*2350+137T>A (n.*2350+137T>A) c.2681T>A (p.Leu894His) c.1865T>A (p.Leu622His) c.1772T>A (p.Leu591His) | |
14 | g.67782962_67782966delinsAGACT | CA2144027700 | ZFYVE26 | c.4186_4190delinsAGTCT (p.Ser1396=) n.4323_4327delinsAGTCT c.*2350+133_*2350+137delinsAGTCT (n.*2350+133_*2350+137delinsAGTCT) c.2677_2681delinsAGTCT (p.Ser893=) c.1861_1865delinsAGTCT (p.Ser621=) c.1768_1772delinsAGTCT (p.Ser590=) | |
14 | g.67782963G>A | CA390170652 | ZFYVE26 | c.4189C>T (p.Leu1397Phe) n.4326C>T c.*2350+136C>T (n.*2350+136C>T) c.2680C>T (p.Leu894Phe) c.1864C>T (p.Leu622Phe) c.1771C>T (p.Leu591Phe) | |
14 | g.67782963G>C | CA390170653 | ZFYVE26 | c.4189C>G (p.Leu1397Val) n.4326C>G c.*2350+136C>G (n.*2350+136C>G) c.2680C>G (p.Leu894Val) c.1864C>G (p.Leu622Val) c.1771C>G (p.Leu591Val) | |
14 | g.67782963G>T | CA390170654 | ZFYVE26 | c.4189C>A (p.Leu1397Ile) n.4326C>A c.*2350+136C>A (n.*2350+136C>A) c.2680C>A (p.Leu894Ile) c.1864C>A (p.Leu622Ile) c.1771C>A (p.Leu591Ile) | |
14 | g.67782964_67782967del | CA615188407 | ZFYVE26 | c.4186_4189del (p.Ser1396PhefsTer14) n.4323_4326del c.*2350+133_*2350+136del (n.*2350+133_*2350+136del) c.2677_2680del (p.Ser893PhefsTer14) c.1861_1864del (p.Ser621PhefsTer14) c.1768_1771del (p.Ser590PhefsTer14) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.67782964A>C | CA390170655 | ZFYVE26 | c.4188T>G (p.Ser1396Arg) n.4325T>G c.*2350+135T>G (n.*2350+135T>G) c.2679T>G (p.Ser893Arg) c.1863T>G (p.Ser621Arg) c.1770T>G (p.Ser590Arg) | |
14 | g.67782964A>G | CA486970727 | ZFYVE26 | c.4188T>C (p.Ser1396=) n.4325T>C c.*2350+135T>C (n.*2350+135T>C) c.2679T>C (p.Ser893=) c.1863T>C (p.Ser621=) c.1770T>C (p.Ser590=) | |
14 | g.67782964A>T | CA390170656 | ZFYVE26 | c.4188T>A (p.Ser1396Arg) n.4325T>A c.*2350+135T>A (n.*2350+135T>A) c.2679T>A (p.Ser893Arg) c.1863T>A (p.Ser621Arg) c.1770T>A (p.Ser590Arg) | |
14 | g.67782965C>A | CA390170657 | ZFYVE26 | c.4187G>T (p.Ser1396Ile) n.4324G>T c.*2350+134G>T (n.*2350+134G>T) c.2678G>T (p.Ser893Ile) c.1862G>T (p.Ser621Ile) c.1769G>T (p.Ser590Ile) | |
14 | g.67782965C>G | CA390170658 | ZFYVE26 | c.4187G>C (p.Ser1396Thr) n.4324G>C c.*2350+134G>C (n.*2350+134G>C) c.2678G>C (p.Ser893Thr) c.1862G>C (p.Ser621Thr) c.1769G>C (p.Ser590Thr) | |
14 | g.67782965C>T | CA390170659 | ZFYVE26 | c.4187G>A (p.Ser1396Asn) n.4324G>A c.*2350+134G>A (n.*2350+134G>A) c.2678G>A (p.Ser893Asn) c.1862G>A (p.Ser621Asn) c.1769G>A (p.Ser590Asn) | |
14 | g.67782966T>A | CA390170660 | ZFYVE26 | c.4186A>T (p.Ser1396Cys) n.4323A>T c.*2350+133A>T (n.*2350+133A>T) c.2677A>T (p.Ser893Cys) c.1861A>T (p.Ser621Cys) c.1768A>T (p.Ser590Cys) | |
14 | g.67782966T>C | CA390170661 | ZFYVE26 | c.4186A>G (p.Ser1396Gly) n.4323A>G c.*2350+133A>G (n.*2350+133A>G) c.2677A>G (p.Ser893Gly) c.1861A>G (p.Ser621Gly) c.1768A>G (p.Ser590Gly) | |
14 | g.67782966T>G | CA390170662 | ZFYVE26 | c.4186A>C (p.Ser1396Arg) n.4323A>C c.*2350+133A>C (n.*2350+133A>C) c.2677A>C (p.Ser893Arg) c.1861A>C (p.Ser621Arg) c.1768A>C (p.Ser590Arg) | |
14 | g.67782967G>A | CA486970728 | ZFYVE26 | c.4185C>T (p.Ala1395=) n.4322C>T c.*2350+132C>T (n.*2350+132C>T) c.2676C>T (p.Ala892=) c.1860C>T (p.Ala620=) c.1767C>T (p.Ala589=) | |
14 | g.67782967G>C | CA486970729 | ZFYVE26 | c.4185C>G (p.Ala1395=) n.4322C>G c.*2350+132C>G (n.*2350+132C>G) c.2676C>G (p.Ala892=) c.1860C>G (p.Ala620=) c.1767C>G (p.Ala589=) | |
14 | g.67782967G= | CA2144027701 | ZFYVE26 | c.4185C= (p.Ala1395=) n.4322C= c.*2350+132C= (n.*2350+132C=) c.2676C= (p.Ala892=) c.1860C= (p.Ala620=) c.1767C= (p.Ala589=) | |
14 | g.67782967G>T | CA7239822 | ZFYVE26 | c.4185C>A (p.Ala1395=) n.4322C>A c.*2350+132C>A (n.*2350+132C>A) c.2676C>A (p.Ala892=) c.1860C>A (p.Ala620=) c.1767C>A (p.Ala589=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.67782968G>A | CA7239823 | ZFYVE26 | c.4184C>T (p.Ala1395Val) n.4321C>T c.*2350+131C>T (n.*2350+131C>T) c.2675C>T (p.Ala892Val) c.1859C>T (p.Ala620Val) c.1766C>T (p.Ala589Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.67782968G>C | CA7239824 | ZFYVE26 | c.4184C>G (p.Ala1395Gly) n.4321C>G c.*2350+131C>G (n.*2350+131C>G) c.2675C>G (p.Ala892Gly) c.1859C>G (p.Ala620Gly) c.1766C>G (p.Ala589Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.67782968G= | CA2144027702 | ZFYVE26 | c.4184C= (p.Ala1395=) n.4321C= c.*2350+131C= (n.*2350+131C=) c.2675C= (p.Ala892=) c.1859C= (p.Ala620=) c.1766C= (p.Ala589=) | |
14 | g.67782968G>T | CA390170663 | ZFYVE26 | c.4184C>A (p.Ala1395Asp) n.4321C>A c.*2350+131C>A (n.*2350+131C>A) c.2675C>A (p.Ala892Asp) c.1859C>A (p.Ala620Asp) c.1766C>A (p.Ala589Asp) | |
14 | g.67782969C>A | CA390170666 | ZFYVE26 | c.4183G>T (p.Ala1395Ser) n.4320G>T c.*2350+130G>T (n.*2350+130G>T) c.2674G>T (p.Ala892Ser) c.1858G>T (p.Ala620Ser) c.1765G>T (p.Ala589Ser) | |
14 | g.67782969C>G | CA390170665 | ZFYVE26 | c.4183G>C (p.Ala1395Pro) n.4320G>C c.*2350+130G>C (n.*2350+130G>C) c.2674G>C (p.Ala892Pro) c.1858G>C (p.Ala620Pro) c.1765G>C (p.Ala589Pro) | |
14 | g.67782969C>T | CA390170664 | ZFYVE26 | c.4183G>A (p.Ala1395Thr) n.4320G>A c.*2350+130G>A (n.*2350+130G>A) c.2674G>A (p.Ala892Thr) c.1858G>A (p.Ala620Thr) c.1765G>A (p.Ala589Thr) | |
14 | g.67782970C>A | CA390170667 | ZFYVE26 | c.4182G>T (p.Trp1394Cys) n.4319G>T c.*2350+129G>T (n.*2350+129G>T) c.2673G>T (p.Trp891Cys) c.1857G>T (p.Trp619Cys) c.1764G>T (p.Trp588Cys) | |
14 | g.67782970C= | CA2144027703 | ZFYVE26 | c.4182G= (p.Trp1394=) n.4319G= c.*2350+129G= (n.*2350+129G=) c.2673G= (p.Trp891=) c.1857G= (p.Trp619=) c.1764G= (p.Trp588=) | |
14 | g.67782970C>G | CA390170668 | ZFYVE26 | c.4182G>C (p.Trp1394Cys) n.4319G>C c.*2350+129G>C (n.*2350+129G>C) c.2673G>C (p.Trp891Cys) c.1857G>C (p.Trp619Cys) c.1764G>C (p.Trp588Cys) | |
14 | g.67782970C>T | CA390170669 | ZFYVE26 | c.4182G>A (p.Trp1394Ter) n.4319G>A c.*2350+129G>A (n.*2350+129G>A) c.2673G>A (p.Trp891Ter) c.1857G>A (p.Trp619Ter) c.1764G>A (p.Trp588Ter) | ClinVar dbSNP |
14 | g.67782971C>A | CA390170670 | ZFYVE26 | c.4181G>T (p.Trp1394Leu) n.4318G>T c.*2350+128G>T (n.*2350+128G>T) c.2672G>T (p.Trp891Leu) c.1856G>T (p.Trp619Leu) c.1763G>T (p.Trp588Leu) | |
14 | g.67782971C= | CA2144027704 | ZFYVE26 | c.4181G= (p.Trp1394=) n.4318G= c.*2350+128G= (n.*2350+128G=) c.2672G= (p.Trp891=) c.1856G= (p.Trp619=) c.1763G= (p.Trp588=) | |
14 | g.67782971C>G | CA390170671 | ZFYVE26 | c.4181G>C (p.Trp1394Ser) n.4318G>C c.*2350+128G>C (n.*2350+128G>C) c.2672G>C (p.Trp891Ser) c.1856G>C (p.Trp619Ser) c.1763G>C (p.Trp588Ser) | |
14 | g.67782971C>T | CA250411 | ZFYVE26 | c.4181G>A (p.Trp1394Ter) n.4318G>A c.*2350+128G>A (n.*2350+128G>A) c.2672G>A (p.Trp891Ter) c.1856G>A (p.Trp619Ter) c.1763G>A (p.Trp588Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.67782972A>C | CA390170672 | ZFYVE26 | c.4180T>G (p.Trp1394Gly) n.4317T>G c.*2350+127T>G (n.*2350+127T>G) c.2671T>G (p.Trp891Gly) c.1855T>G (p.Trp619Gly) c.1762T>G (p.Trp588Gly) | |
14 | g.67782972A>G | CA390170673 | ZFYVE26 | c.4180T>C (p.Trp1394Arg) n.4317T>C c.*2350+127T>C (n.*2350+127T>C) c.2671T>C (p.Trp891Arg) c.1855T>C (p.Trp619Arg) c.1762T>C (p.Trp588Arg) | |
14 | g.67782972A>T | CA390170674 | ZFYVE26 | c.4180T>A (p.Trp1394Arg) n.4317T>A c.*2350+127T>A (n.*2350+127T>A) c.2671T>A (p.Trp891Arg) c.1855T>A (p.Trp619Arg) c.1762T>A (p.Trp588Arg) | |
14 | g.67782973A>C | CA486970730 | ZFYVE26 | c.4179T>G (p.Gly1393=) n.4316T>G c.*2350+126T>G (n.*2350+126T>G) c.2670T>G (p.Gly890=) c.1854T>G (p.Gly618=) c.1761T>G (p.Gly587=) | |
14 | g.67782973A>G | CA486970731 | ZFYVE26 | c.4179T>C (p.Gly1393=) n.4316T>C c.*2350+126T>C (n.*2350+126T>C) c.2670T>C (p.Gly890=) c.1854T>C (p.Gly618=) c.1761T>C (p.Gly587=) | |
14 | g.67782973A>T | CA486970732 | ZFYVE26 | c.4179T>A (p.Gly1393=) n.4316T>A c.*2350+126T>A (n.*2350+126T>A) c.2670T>A (p.Gly890=) c.1854T>A (p.Gly618=) c.1761T>A (p.Gly587=) | |
14 | g.67782974C>A | CA390170675 | ZFYVE26 | c.4178G>T (p.Gly1393Val) n.4315G>T c.*2350+125G>T (n.*2350+125G>T) c.2669G>T (p.Gly890Val) c.1853G>T (p.Gly618Val) c.1760G>T (p.Gly587Val) | |
14 | g.67782974C>G | CA390170676 | ZFYVE26 | c.4178G>C (p.Gly1393Ala) n.4315G>C c.*2350+125G>C (n.*2350+125G>C) c.2669G>C (p.Gly890Ala) c.1853G>C (p.Gly618Ala) c.1760G>C (p.Gly587Ala) | |
14 | g.67782974C>T | CA390170677 | ZFYVE26 | c.4178G>A (p.Gly1393Asp) n.4315G>A c.*2350+125G>A (n.*2350+125G>A) c.2669G>A (p.Gly890Asp) c.1853G>A (p.Gly618Asp) c.1760G>A (p.Gly587Asp) | |
14 | g.67782974_67782975insT | CA2580088645 | ZFYVE26 | c.4177_4178insA (p.Gly1393GlufsTer23) n.4314_4315insA c.*2350+124_*2350+125insA (n.*2350+124_*2350+125insA) c.2668_2669insA (p.Gly890GlufsTer23) c.1852_1853insA (p.Gly618GlufsTer23) c.1759_1760insA (p.Gly587GlufsTer23) | ClinVar |
14 | g.67782975C>A | CA390170680 | ZFYVE26 | c.4177G>T (p.Gly1393Cys) n.4314G>T c.*2350+124G>T (n.*2350+124G>T) c.2668G>T (p.Gly890Cys) c.1852G>T (p.Gly618Cys) c.1759G>T (p.Gly587Cys) | |
14 | g.67782975C>G | CA390170678 | ZFYVE26 | c.4177G>C (p.Gly1393Arg) n.4314G>C c.*2350+124G>C (n.*2350+124G>C) c.2668G>C (p.Gly890Arg) c.1852G>C (p.Gly618Arg) c.1759G>C (p.Gly587Arg) | |
14 | g.67782975C>T | CA390170679 | ZFYVE26 | c.4177G>A (p.Gly1393Ser) n.4314G>A c.*2350+124G>A (n.*2350+124G>A) c.2668G>A (p.Gly890Ser) c.1852G>A (p.Gly618Ser) c.1759G>A (p.Gly587Ser) | |
14 | g.67782975_67782976insCAAACACACCCAAC | CA2801976546 | ZFYVE26 | c.4177_4178insTTGGGTGTGTTTGG (p.Gly1393ValfsTer23) n.4314_4315insTTGGGTGTGTTTGG c.*2350+124_*2350+125insTTGGGTGTGTTTGG (n.*2350+124_*2350+125insTTGGGTGTGTTTGG) c.2668_2669insTTGGGTGTGTTTGG (p.Gly890ValfsTer23) c.1852_1853insTTGGGTGTGTTTGG (p.Gly618ValfsTer23) c.1759_1760insTTGGGTGTGTTTGG (p.Gly587ValfsTer23) | |
14 | g.67782977_67782978del | CA2575559837 | ZFYVE26 | c.4176_4177del (p.Cys1392TrpfsTer23) n.4313_4314del c.*2350+123_*2350+124del (n.*2350+123_*2350+124del) c.2667_2668del (p.Cys889TrpfsTer23) c.1851_1852del (p.Cys617TrpfsTer23) c.1758_1759del (p.Cys586TrpfsTer23) | |
14 | g.67782976A= | CA2144027705 | ZFYVE26 | c.4176T= (p.Cys1392=) n.4313T= c.*2350+123T= (n.*2350+123T=) c.2667T= (p.Cys889=) c.1851T= (p.Cys617=) c.1758T= (p.Cys586=) | |
14 | g.67782976A>C | CA390170681 | ZFYVE26 | c.4176T>G (p.Cys1392Trp) n.4313T>G c.*2350+123T>G (n.*2350+123T>G) c.2667T>G (p.Cys889Trp) c.1851T>G (p.Cys617Trp) c.1758T>G (p.Cys586Trp) | |
14 | g.67782976A>G | CA7239825 | ZFYVE26 | c.4176T>C (p.Cys1392=) n.4313T>C c.*2350+123T>C (n.*2350+123T>C) c.2667T>C (p.Cys889=) c.1851T>C (p.Cys617=) c.1758T>C (p.Cys586=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.67782976A>T | CA390170682 | ZFYVE26 | c.4176T>A (p.Cys1392Ter) n.4313T>A c.*2350+123T>A (n.*2350+123T>A) c.2667T>A (p.Cys889Ter) c.1851T>A (p.Cys617Ter) c.1758T>A (p.Cys586Ter) | |
14 | g.67782977C>A | CA390170683 | ZFYVE26 | c.4175G>T (p.Cys1392Phe) n.4312G>T c.*2350+122G>T (n.*2350+122G>T) c.2666G>T (p.Cys889Phe) c.1850G>T (p.Cys617Phe) c.1757G>T (p.Cys586Phe) | |
14 | g.67782977C>G | CA390170684 | ZFYVE26 | c.4175G>C (p.Cys1392Ser) n.4312G>C c.*2350+122G>C (n.*2350+122G>C) c.2666G>C (p.Cys889Ser) c.1850G>C (p.Cys617Ser) c.1757G>C (p.Cys586Ser) | |
14 | g.67782977C>T | CA390170685 | ZFYVE26 | c.4175G>A (p.Cys1392Tyr) n.4312G>A c.*2350+122G>A (n.*2350+122G>A) c.2666G>A (p.Cys889Tyr) c.1850G>A (p.Cys617Tyr) c.1757G>A (p.Cys586Tyr) | gnomAD v4 |
14 | g.67782977_67782979delinsCAG | CA2144027706 | ZFYVE26 | c.4173_4175delinsCTG (p.Leu1391=) n.4310_4312delinsCTG c.*2350+120_*2350+122delinsCTG (n.*2350+120_*2350+122delinsCTG) c.2664_2666delinsCTG (p.Leu888=) c.1848_1850delinsCTG (p.Leu616=) c.1755_1757delinsCTG (p.Leu585=) | |
14 | g.67782978A>C | CA390170686 | ZFYVE26 | c.4174T>G (p.Cys1392Gly) n.4311T>G c.*2350+121T>G (n.*2350+121T>G) c.2665T>G (p.Cys889Gly) c.1849T>G (p.Cys617Gly) c.1756T>G (p.Cys586Gly) | |
14 | g.67782978A>G | CA390170687 | ZFYVE26 | c.4174T>C (p.Cys1392Arg) n.4311T>C c.*2350+121T>C (n.*2350+121T>C) c.2665T>C (p.Cys889Arg) c.1849T>C (p.Cys617Arg) c.1756T>C (p.Cys586Arg) | |
14 | g.67782978A>T | CA390170688 | ZFYVE26 | c.4174T>A (p.Cys1392Ser) n.4311T>A c.*2350+121T>A (n.*2350+121T>A) c.2665T>A (p.Cys889Ser) c.1849T>A (p.Cys617Ser) c.1756T>A (p.Cys586Ser) | |
14 | g.67782981_67782982del | CA964243877 | ZFYVE26 | c.4173_4174del (p.Cys1392TrpfsTer23) n.4310_4311del c.*2350+120_*2350+121del (n.*2350+120_*2350+121del) c.2664_2665del (p.Cys889TrpfsTer23) c.1848_1849del (p.Cys617TrpfsTer23) c.1755_1756del (p.Cys586TrpfsTer23) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.67782979G>A | CA486970733 | ZFYVE26 | c.4173C>T (p.Leu1391=) n.4310C>T c.*2350+120C>T (n.*2350+120C>T) c.2664C>T (p.Leu888=) c.1848C>T (p.Leu616=) c.1755C>T (p.Leu585=) | ClinVar dbSNP |
14 | g.67782979G>C | CA486970734 | ZFYVE26 | c.4173C>G (p.Leu1391=) n.4310C>G c.*2350+120C>G (n.*2350+120C>G) c.2664C>G (p.Leu888=) c.1848C>G (p.Leu616=) c.1755C>G (p.Leu585=) | |
14 | g.67782979G>T | CA486970735 | ZFYVE26 | c.4173C>A (p.Leu1391=) n.4310C>A c.*2350+120C>A (n.*2350+120C>A) c.2664C>A (p.Leu888=) c.1848C>A (p.Leu616=) c.1755C>A (p.Leu585=) | |
14 | g.67782980A>C | CA390170689 | ZFYVE26 | c.4172T>G (p.Leu1391Arg) n.4309T>G c.*2350+119T>G (n.*2350+119T>G) c.2663T>G (p.Leu888Arg) c.1847T>G (p.Leu616Arg) c.1754T>G (p.Leu585Arg) | |
14 | g.67782980A>G | CA390170690 | ZFYVE26 | c.4172T>C (p.Leu1391Pro) n.4309T>C c.*2350+119T>C (n.*2350+119T>C) c.2663T>C (p.Leu888Pro) c.1847T>C (p.Leu616Pro) c.1754T>C (p.Leu585Pro) | |
14 | g.67782980A>T | CA390170691 | ZFYVE26 | c.4172T>A (p.Leu1391His) n.4309T>A c.*2350+119T>A (n.*2350+119T>A) c.2663T>A (p.Leu888His) c.1847T>A (p.Leu616His) c.1754T>A (p.Leu585His) |