Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.67782814T>A | CA7239793 | ZFYVE26 | c.4338A>T (p.Ile1446=) n.4475A>T c.*2350+285A>T (n.*2350+285A>T) c.2829A>T (p.Ile943=) c.2013A>T (p.Ile671=) c.1920A>T (p.Ile640=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.67782814T>C | CA390170047 | ZFYVE26 | c.4338A>G (p.Ile1446Met) n.4475A>G c.*2350+285A>G (n.*2350+285A>G) c.2829A>G (p.Ile943Met) c.2013A>G (p.Ile671Met) c.1920A>G (p.Ile640Met) | gnomAD v4 |
14 | g.67782814T>G | CA486970509 | ZFYVE26 | c.4338A>C (p.Ile1446=) n.4475A>C c.*2350+285A>C (n.*2350+285A>C) c.2829A>C (p.Ile943=) c.2013A>C (p.Ile671=) c.1920A>C (p.Ile640=) | |
14 | g.67782814T= | CA2144027636 | ZFYVE26 | c.4338A= (p.Ile1446=) n.4475A= c.*2350+285A= (n.*2350+285A=) c.2829A= (p.Ile943=) c.2013A= (p.Ile671=) c.1920A= (p.Ile640=) | |
14 | g.67782815A>C | CA390170049 | ZFYVE26 | c.4337T>G (p.Ile1446Arg) n.4474T>G c.*2350+284T>G (n.*2350+284T>G) c.2828T>G (p.Ile943Arg) c.2012T>G (p.Ile671Arg) c.1919T>G (p.Ile640Arg) | |
14 | g.67782815A>G | CA390170051 | ZFYVE26 | c.4337T>C (p.Ile1446Thr) n.4474T>C c.*2350+284T>C (n.*2350+284T>C) c.2828T>C (p.Ile943Thr) c.2012T>C (p.Ile671Thr) c.1919T>C (p.Ile640Thr) | |
14 | g.67782815A>T | CA390170052 | ZFYVE26 | c.4337T>A (p.Ile1446Lys) n.4474T>A c.*2350+284T>A (n.*2350+284T>A) c.2828T>A (p.Ile943Lys) c.2012T>A (p.Ile671Lys) c.1919T>A (p.Ile640Lys) | |
14 | g.67782816T>A | CA390170054 | ZFYVE26 | c.4336A>T (p.Ile1446Leu) n.4473A>T c.*2350+283A>T (n.*2350+283A>T) c.2827A>T (p.Ile943Leu) c.2011A>T (p.Ile671Leu) c.1918A>T (p.Ile640Leu) | |
14 | g.67782816T>C | CA7239794 | ZFYVE26 | c.4336A>G (p.Ile1446Val) n.4473A>G c.*2350+283A>G (n.*2350+283A>G) c.2827A>G (p.Ile943Val) c.2011A>G (p.Ile671Val) c.1918A>G (p.Ile640Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.67782816T>G | CA390170053 | ZFYVE26 | c.4336A>C (p.Ile1446Leu) n.4473A>C c.*2350+283A>C (n.*2350+283A>C) c.2827A>C (p.Ile943Leu) c.2011A>C (p.Ile671Leu) c.1918A>C (p.Ile640Leu) | |
14 | g.67782816T= | CA2144027637 | ZFYVE26 | c.4336A= (p.Ile1446=) n.4473A= c.*2350+283A= (n.*2350+283A=) c.2827A= (p.Ile943=) c.2011A= (p.Ile671=) c.1918A= (p.Ile640=) | |
14 | g.67782817G>A | CA7239795 | ZFYVE26 | c.4335C>T (p.Ser1445=) n.4472C>T c.*2350+282C>T (n.*2350+282C>T) c.2826C>T (p.Ser942=) c.2010C>T (p.Ser670=) c.1917C>T (p.Ser639=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.67782817G>C | CA390170058 | ZFYVE26 | c.4335C>G (p.Ser1445Arg) n.4472C>G c.*2350+282C>G (n.*2350+282C>G) c.2826C>G (p.Ser942Arg) c.2010C>G (p.Ser670Arg) c.1917C>G (p.Ser639Arg) | |
14 | g.67782817G= | CA2144027638 | ZFYVE26 | c.4335C= (p.Ser1445=) n.4472C= c.*2350+282C= (n.*2350+282C=) c.2826C= (p.Ser942=) c.2010C= (p.Ser670=) c.1917C= (p.Ser639=) | |
14 | g.67782817G>T | CA390170056 | ZFYVE26 | c.4335C>A (p.Ser1445Arg) n.4472C>A c.*2350+282C>A (n.*2350+282C>A) c.2826C>A (p.Ser942Arg) c.2010C>A (p.Ser670Arg) c.1917C>A (p.Ser639Arg) | gnomAD v4 COSMIC |
14 | g.67782818C>A | CA390170060 | ZFYVE26 | c.4334G>T (p.Ser1445Ile) n.4471G>T c.*2350+281G>T (n.*2350+281G>T) c.2825G>T (p.Ser942Ile) c.2009G>T (p.Ser670Ile) c.1916G>T (p.Ser639Ile) | |
14 | g.67782818C>G | CA390170061 | ZFYVE26 | c.4334G>C (p.Ser1445Thr) n.4471G>C c.*2350+281G>C (n.*2350+281G>C) c.2825G>C (p.Ser942Thr) c.2009G>C (p.Ser670Thr) c.1916G>C (p.Ser639Thr) | |
14 | g.67782818C>T | CA390170062 | ZFYVE26 | c.4334G>A (p.Ser1445Asn) n.4471G>A c.*2350+281G>A (n.*2350+281G>A) c.2825G>A (p.Ser942Asn) c.2009G>A (p.Ser670Asn) c.1916G>A (p.Ser639Asn) | |
14 | g.67782819T>A | CA390170065 | ZFYVE26 | c.4333A>T (p.Ser1445Cys) n.4470A>T c.*2350+280A>T (n.*2350+280A>T) c.2824A>T (p.Ser942Cys) c.2008A>T (p.Ser670Cys) c.1915A>T (p.Ser639Cys) | |
14 | g.67782819T>C | CA390170067 | ZFYVE26 | c.4333A>G (p.Ser1445Gly) n.4470A>G c.*2350+280A>G (n.*2350+280A>G) c.2824A>G (p.Ser942Gly) c.2008A>G (p.Ser670Gly) c.1915A>G (p.Ser639Gly) | |
14 | g.67782819T>G | CA390170069 | ZFYVE26 | c.4333A>C (p.Ser1445Arg) n.4470A>C c.*2350+280A>C (n.*2350+280A>C) c.2824A>C (p.Ser942Arg) c.2008A>C (p.Ser670Arg) c.1915A>C (p.Ser639Arg) | |
14 | g.67782820G>A | CA486970516 | ZFYVE26 | c.4332C>T (p.Ser1444=) n.4469C>T c.*2350+279C>T (n.*2350+279C>T) c.2823C>T (p.Ser941=) c.2007C>T (p.Ser669=) c.1914C>T (p.Ser638=) | |
14 | g.67782820G>C | CA390170071 | ZFYVE26 | c.4332C>G (p.Ser1444Arg) n.4469C>G c.*2350+279C>G (n.*2350+279C>G) c.2823C>G (p.Ser941Arg) c.2007C>G (p.Ser669Arg) c.1914C>G (p.Ser638Arg) | |
14 | g.67782820G>T | CA390170073 | ZFYVE26 | c.4332C>A (p.Ser1444Arg) n.4469C>A c.*2350+279C>A (n.*2350+279C>A) c.2823C>A (p.Ser941Arg) c.2007C>A (p.Ser669Arg) c.1914C>A (p.Ser638Arg) | |
14 | g.67782821C>A | CA390170075 | ZFYVE26 | c.4331G>T (p.Ser1444Ile) n.4468G>T c.*2350+278G>T (n.*2350+278G>T) c.2822G>T (p.Ser941Ile) c.2006G>T (p.Ser669Ile) c.1913G>T (p.Ser638Ile) | |
14 | g.67782821C>G | CA390170077 | ZFYVE26 | c.4331G>C (p.Ser1444Thr) n.4468G>C c.*2350+278G>C (n.*2350+278G>C) c.2822G>C (p.Ser941Thr) c.2006G>C (p.Ser669Thr) c.1913G>C (p.Ser638Thr) | |
14 | g.67782821C>T | CA390170079 | ZFYVE26 | c.4331G>A (p.Ser1444Asn) n.4468G>A c.*2350+278G>A (n.*2350+278G>A) c.2822G>A (p.Ser941Asn) c.2006G>A (p.Ser669Asn) c.1913G>A (p.Ser638Asn) | |
14 | g.67782822T>A | CA390170085 | ZFYVE26 | c.4330A>T (p.Ser1444Cys) n.4467A>T c.*2350+277A>T (n.*2350+277A>T) c.2821A>T (p.Ser941Cys) c.2005A>T (p.Ser669Cys) c.1912A>T (p.Ser638Cys) | COSMIC |
14 | g.67782822T>C | CA390170083 | ZFYVE26 | c.4330A>G (p.Ser1444Gly) n.4467A>G c.*2350+277A>G (n.*2350+277A>G) c.2821A>G (p.Ser941Gly) c.2005A>G (p.Ser669Gly) c.1912A>G (p.Ser638Gly) | |
14 | g.67782822T>G | CA390170081 | ZFYVE26 | c.4330A>C (p.Ser1444Arg) n.4467A>C c.*2350+277A>C (n.*2350+277A>C) c.2821A>C (p.Ser941Arg) c.2005A>C (p.Ser669Arg) c.1912A>C (p.Ser638Arg) | |
14 | g.67782823C>A | CA390170087 | ZFYVE26 | c.4329G>T (p.Leu1443Phe) n.4466G>T c.*2350+276G>T (n.*2350+276G>T) c.2820G>T (p.Leu940Phe) c.2004G>T (p.Leu668Phe) c.1911G>T (p.Leu637Phe) | gnomAD v4 |
14 | g.67782823C= | CA2144027639 | ZFYVE26 | c.4329G= (p.Leu1443=) n.4466G= c.*2350+276G= (n.*2350+276G=) c.2820G= (p.Leu940=) c.2004G= (p.Leu668=) c.1911G= (p.Leu637=) | |
14 | g.67782823C>G | CA390170089 | ZFYVE26 | c.4329G>C (p.Leu1443Phe) n.4466G>C c.*2350+276G>C (n.*2350+276G>C) c.2820G>C (p.Leu940Phe) c.2004G>C (p.Leu668Phe) c.1911G>C (p.Leu637Phe) | |
14 | g.67782823C>T | CA486970519 | ZFYVE26 | c.4329G>A (p.Leu1443=) n.4466G>A c.*2350+276G>A (n.*2350+276G>A) c.2820G>A (p.Leu940=) c.2004G>A (p.Leu668=) c.1911G>A (p.Leu637=) | ClinVar dbSNP gnomAD v4 |
14 | g.67782824A>C | CA390170091 | ZFYVE26 | c.4328T>G (p.Leu1443Trp) n.4465T>G c.*2350+275T>G (n.*2350+275T>G) c.2819T>G (p.Leu940Trp) c.2003T>G (p.Leu668Trp) c.1910T>G (p.Leu637Trp) | |
14 | g.67782824A>G | CA390170092 | ZFYVE26 | c.4328T>C (p.Leu1443Ser) n.4465T>C c.*2350+275T>C (n.*2350+275T>C) c.2819T>C (p.Leu940Ser) c.2003T>C (p.Leu668Ser) c.1910T>C (p.Leu637Ser) | |
14 | g.67782824A>T | CA390170094 | ZFYVE26 | c.4328T>A (p.Leu1443Ter) n.4465T>A c.*2350+275T>A (n.*2350+275T>A) c.2819T>A (p.Leu940Ter) c.2003T>A (p.Leu668Ter) c.1910T>A (p.Leu637Ter) | |
14 | g.67782825A>C | CA390170095 | ZFYVE26 | c.4327T>G (p.Leu1443Val) n.4464T>G c.*2350+274T>G (n.*2350+274T>G) c.2818T>G (p.Leu940Val) c.2002T>G (p.Leu668Val) c.1909T>G (p.Leu637Val) | |
14 | g.67782825A>G | CA486970522 | ZFYVE26 | c.4327T>C (p.Leu1443=) n.4464T>C c.*2350+274T>C (n.*2350+274T>C) c.2818T>C (p.Leu940=) c.2002T>C (p.Leu668=) c.1909T>C (p.Leu637=) | |
14 | g.67782825A>T | CA390170096 | ZFYVE26 | c.4327T>A (p.Leu1443Met) n.4464T>A c.*2350+274T>A (n.*2350+274T>A) c.2818T>A (p.Leu940Met) c.2002T>A (p.Leu668Met) c.1909T>A (p.Leu637Met) | |
14 | g.67782826A>C | CA390170099 | ZFYVE26 | c.4326T>G (p.Asp1442Glu) n.4463T>G c.*2350+273T>G (n.*2350+273T>G) c.2817T>G (p.Asp939Glu) c.2001T>G (p.Asp667Glu) c.1908T>G (p.Asp636Glu) | |
14 | g.67782826A>G | CA486970526 | ZFYVE26 | c.4326T>C (p.Asp1442=) n.4463T>C c.*2350+273T>C (n.*2350+273T>C) c.2817T>C (p.Asp939=) c.2001T>C (p.Asp667=) c.1908T>C (p.Asp636=) | |
14 | g.67782826A>T | CA390170101 | ZFYVE26 | c.4326T>A (p.Asp1442Glu) n.4463T>A c.*2350+273T>A (n.*2350+273T>A) c.2817T>A (p.Asp939Glu) c.2001T>A (p.Asp667Glu) c.1908T>A (p.Asp636Glu) | |
14 | g.67782827T>A | CA390170103 | ZFYVE26 | c.4325A>T (p.Asp1442Val) n.4462A>T c.*2350+272A>T (n.*2350+272A>T) c.2816A>T (p.Asp939Val) c.2000A>T (p.Asp667Val) c.1907A>T (p.Asp636Val) | |
14 | g.67782827T>C | CA390170104 | ZFYVE26 | c.4325A>G (p.Asp1442Gly) n.4462A>G c.*2350+272A>G (n.*2350+272A>G) c.2816A>G (p.Asp939Gly) c.2000A>G (p.Asp667Gly) c.1907A>G (p.Asp636Gly) | |
14 | g.67782827T>G | CA390170106 | ZFYVE26 | c.4325A>C (p.Asp1442Ala) n.4462A>C c.*2350+272A>C (n.*2350+272A>C) c.2816A>C (p.Asp939Ala) c.2000A>C (p.Asp667Ala) c.1907A>C (p.Asp636Ala) | |
14 | g.67782828C>A | CA390170110 | ZFYVE26 | c.4324G>T (p.Asp1442Tyr) n.4461G>T c.*2350+271G>T (n.*2350+271G>T) c.2815G>T (p.Asp939Tyr) c.1999G>T (p.Asp667Tyr) c.1906G>T (p.Asp636Tyr) | |
14 | g.67782828C= | CA2144027640 | ZFYVE26 | c.4324G= (p.Asp1442=) n.4461G= c.*2350+271G= (n.*2350+271G=) c.2815G= (p.Asp939=) c.1999G= (p.Asp667=) c.1906G= (p.Asp636=) | |
14 | g.67782828C>G | CA390170109 | ZFYVE26 | c.4324G>C (p.Asp1442His) n.4461G>C c.*2350+271G>C (n.*2350+271G>C) c.2815G>C (p.Asp939His) c.1999G>C (p.Asp667His) c.1906G>C (p.Asp636His) | |
14 | g.67782828C>T | CA337036 | ZFYVE26 | c.4324G>A (p.Asp1442Asn) n.4461G>A c.*2350+271G>A (n.*2350+271G>A) c.2815G>A (p.Asp939Asn) c.1999G>A (p.Asp667Asn) c.1906G>A (p.Asp636Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.67782829G>A | CA7239796 | ZFYVE26 | c.4323C>T (p.Asp1441=) n.4460C>T c.*2350+270C>T (n.*2350+270C>T) c.2814C>T (p.Asp938=) c.1998C>T (p.Asp666=) c.1905C>T (p.Asp635=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.67782829G>C | CA390170112 | ZFYVE26 | c.4323C>G (p.Asp1441Glu) n.4460C>G c.*2350+270C>G (n.*2350+270C>G) c.2814C>G (p.Asp938Glu) c.1998C>G (p.Asp666Glu) c.1905C>G (p.Asp635Glu) | |
14 | g.67782829G= | CA2144027641 | ZFYVE26 | c.4323C= (p.Asp1441=) n.4460C= c.*2350+270C= (n.*2350+270C=) c.2814C= (p.Asp938=) c.1998C= (p.Asp666=) c.1905C= (p.Asp635=) | |
14 | g.67782829G>T | CA390170114 | ZFYVE26 | c.4323C>A (p.Asp1441Glu) n.4460C>A c.*2350+270C>A (n.*2350+270C>A) c.2814C>A (p.Asp938Glu) c.1998C>A (p.Asp666Glu) c.1905C>A (p.Asp635Glu) | ClinVar dbSNP gnomAD v4 |
14 | g.67782830T>A | CA390170116 | ZFYVE26 | c.4322A>T (p.Asp1441Val) n.4459A>T c.*2350+269A>T (n.*2350+269A>T) c.2813A>T (p.Asp938Val) c.1997A>T (p.Asp666Val) c.1904A>T (p.Asp635Val) | |
14 | g.67782830T>C | CA390170118 | ZFYVE26 | c.4322A>G (p.Asp1441Gly) n.4459A>G c.*2350+269A>G (n.*2350+269A>G) c.2813A>G (p.Asp938Gly) c.1997A>G (p.Asp666Gly) c.1904A>G (p.Asp635Gly) | COSMIC |
14 | g.67782830T>G | CA390170120 | ZFYVE26 | c.4322A>C (p.Asp1441Ala) n.4459A>C c.*2350+269A>C (n.*2350+269A>C) c.2813A>C (p.Asp938Ala) c.1997A>C (p.Asp666Ala) c.1904A>C (p.Asp635Ala) | |
14 | g.67782831C>A | CA390170122 | ZFYVE26 | c.4321G>T (p.Asp1441Tyr) n.4458G>T c.*2350+268G>T (n.*2350+268G>T) c.2812G>T (p.Asp938Tyr) c.1996G>T (p.Asp666Tyr) c.1903G>T (p.Asp635Tyr) | |
14 | g.67782831C>G | CA390170123 | ZFYVE26 | c.4321G>C (p.Asp1441His) n.4458G>C c.*2350+268G>C (n.*2350+268G>C) c.2812G>C (p.Asp938His) c.1996G>C (p.Asp666His) c.1903G>C (p.Asp635His) | |
14 | g.67782831C>T | CA390170125 | ZFYVE26 | c.4321G>A (p.Asp1441Asn) n.4458G>A c.*2350+268G>A (n.*2350+268G>A) c.2812G>A (p.Asp938Asn) c.1996G>A (p.Asp666Asn) c.1903G>A (p.Asp635Asn) | |
14 | g.67782832C>A | CA486970530 | ZFYVE26 | c.4320G>T (p.Val1440=) n.4457G>T c.*2350+267G>T (n.*2350+267G>T) c.2811G>T (p.Val937=) c.1995G>T (p.Val665=) c.1902G>T (p.Val634=) | |
14 | g.67782832C>G | CA486970531 | ZFYVE26 | c.4320G>C (p.Val1440=) n.4457G>C c.*2350+267G>C (n.*2350+267G>C) c.2811G>C (p.Val937=) c.1995G>C (p.Val665=) c.1902G>C (p.Val634=) | |
14 | g.67782832C>T | CA486970532 | ZFYVE26 | c.4320G>A (p.Val1440=) n.4457G>A c.*2350+267G>A (n.*2350+267G>A) c.2811G>A (p.Val937=) c.1995G>A (p.Val665=) c.1902G>A (p.Val634=) | gnomAD v4 |
14 | g.67782833A>C | CA390170128 | ZFYVE26 | c.4319T>G (p.Val1440Gly) n.4456T>G c.*2350+266T>G (n.*2350+266T>G) c.2810T>G (p.Val937Gly) c.1994T>G (p.Val665Gly) c.1901T>G (p.Val634Gly) | |
14 | g.67782833A>G | CA390170129 | ZFYVE26 | c.4319T>C (p.Val1440Ala) n.4456T>C c.*2350+266T>C (n.*2350+266T>C) c.2810T>C (p.Val937Ala) c.1994T>C (p.Val665Ala) c.1901T>C (p.Val634Ala) | |
14 | g.67782833A>T | CA390170131 | ZFYVE26 | c.4319T>A (p.Val1440Glu) n.4456T>A c.*2350+266T>A (n.*2350+266T>A) c.2810T>A (p.Val937Glu) c.1994T>A (p.Val665Glu) c.1901T>A (p.Val634Glu) | |
14 | g.67782834C>A | CA390170135 | ZFYVE26 | c.4318G>T (p.Val1440Leu) n.4455G>T c.*2350+265G>T (n.*2350+265G>T) c.2809G>T (p.Val937Leu) c.1993G>T (p.Val665Leu) c.1900G>T (p.Val634Leu) | |
14 | g.67782834C>G | CA390170137 | ZFYVE26 | c.4318G>C (p.Val1440Leu) n.4455G>C c.*2350+265G>C (n.*2350+265G>C) c.2809G>C (p.Val937Leu) c.1993G>C (p.Val665Leu) c.1900G>C (p.Val634Leu) | |
14 | g.67782834C>T | CA390170133 | ZFYVE26 | c.4318G>A (p.Val1440Met) n.4455G>A c.*2350+265G>A (n.*2350+265G>A) c.2809G>A (p.Val937Met) c.1993G>A (p.Val665Met) c.1900G>A (p.Val634Met) | |
14 | g.67782835A= | CA2144027642 | ZFYVE26 | c.4317T= (p.Asp1439=) n.4454T= c.*2350+264T= (n.*2350+264T=) c.2808T= (p.Asp936=) c.1992T= (p.Asp664=) c.1899T= (p.Asp633=) | |
14 | g.67782835A>C | CA390170138 | ZFYVE26 | c.4317T>G (p.Asp1439Glu) n.4454T>G c.*2350+264T>G (n.*2350+264T>G) c.2808T>G (p.Asp936Glu) c.1992T>G (p.Asp664Glu) c.1899T>G (p.Asp633Glu) | |
14 | g.67782835A>G | CA486970537 | ZFYVE26 | c.4317T>C (p.Asp1439=) n.4454T>C c.*2350+264T>C (n.*2350+264T>C) c.2808T>C (p.Asp936=) c.1992T>C (p.Asp664=) c.1899T>C (p.Asp633=) | dbSNP gnomAD v4 |
14 | g.67782835A>T | CA390170140 | ZFYVE26 | c.4317T>A (p.Asp1439Glu) n.4454T>A c.*2350+264T>A (n.*2350+264T>A) c.2808T>A (p.Asp936Glu) c.1992T>A (p.Asp664Glu) c.1899T>A (p.Asp633Glu) | |
14 | g.67782836T>A | CA390170142 | ZFYVE26 | c.4316A>T (p.Asp1439Val) n.4453A>T c.*2350+263A>T (n.*2350+263A>T) c.2807A>T (p.Asp936Val) c.1991A>T (p.Asp664Val) c.1898A>T (p.Asp633Val) | |
14 | g.67782836T>C | CA390170144 | ZFYVE26 | c.4316A>G (p.Asp1439Gly) n.4453A>G c.*2350+263A>G (n.*2350+263A>G) c.2807A>G (p.Asp936Gly) c.1991A>G (p.Asp664Gly) c.1898A>G (p.Asp633Gly) | ClinVar dbSNP |
14 | g.67782836T>G | CA390170146 | ZFYVE26 | c.4316A>C (p.Asp1439Ala) n.4453A>C c.*2350+263A>C (n.*2350+263A>C) c.2807A>C (p.Asp936Ala) c.1991A>C (p.Asp664Ala) c.1898A>C (p.Asp633Ala) | |
14 | g.67782836T= | CA2144027643 | ZFYVE26 | c.4316A= (p.Asp1439=) n.4453A= c.*2350+263A= (n.*2350+263A=) c.2807A= (p.Asp936=) c.1991A= (p.Asp664=) c.1898A= (p.Asp633=) | |
14 | g.67782837C>A | CA390170152 | ZFYVE26 | c.4315G>T (p.Asp1439Tyr) n.4452G>T c.*2350+262G>T (n.*2350+262G>T) c.2806G>T (p.Asp936Tyr) c.1990G>T (p.Asp664Tyr) c.1897G>T (p.Asp633Tyr) | |
14 | g.67782837C>G | CA390170148 | ZFYVE26 | c.4315G>C (p.Asp1439His) n.4452G>C c.*2350+262G>C (n.*2350+262G>C) c.2806G>C (p.Asp936His) c.1990G>C (p.Asp664His) c.1897G>C (p.Asp633His) | |
14 | g.67782837C>T | CA390170150 | ZFYVE26 | c.4315G>A (p.Asp1439Asn) n.4452G>A c.*2350+262G>A (n.*2350+262G>A) c.2806G>A (p.Asp936Asn) c.1990G>A (p.Asp664Asn) c.1897G>A (p.Asp633Asn) | |
14 | g.67782838T>A | CA486970539 | ZFYVE26 | c.4314A>T (p.Arg1438=) n.4451A>T c.*2350+261A>T (n.*2350+261A>T) c.2805A>T (p.Arg935=) c.1989A>T (p.Arg663=) c.1896A>T (p.Arg632=) | |
14 | g.67782838T>C | CA486970540 | ZFYVE26 | c.4314A>G (p.Arg1438=) n.4451A>G c.*2350+261A>G (n.*2350+261A>G) c.2805A>G (p.Arg935=) c.1989A>G (p.Arg663=) c.1896A>G (p.Arg632=) | |
14 | g.67782838T>G | CA486970541 | ZFYVE26 | c.4314A>C (p.Arg1438=) n.4451A>C c.*2350+261A>C (n.*2350+261A>C) c.2805A>C (p.Arg935=) c.1989A>C (p.Arg663=) c.1896A>C (p.Arg632=) | |
14 | g.67782839C>A | CA390170153 | ZFYVE26 | c.4313G>T (p.Arg1438Leu) n.4450G>T c.*2350+260G>T (n.*2350+260G>T) c.2804G>T (p.Arg935Leu) c.1988G>T (p.Arg663Leu) c.1895G>T (p.Arg632Leu) | |
14 | g.67782839C= | CA2144027644 | ZFYVE26 | c.4313G= (p.Arg1438=) n.4450G= c.*2350+260G= (n.*2350+260G=) c.2804G= (p.Arg935=) c.1988G= (p.Arg663=) c.1895G= (p.Arg632=) | |
14 | g.67782839C>G | CA390170155 | ZFYVE26 | c.4313G>C (p.Arg1438Pro) n.4450G>C c.*2350+260G>C (n.*2350+260G>C) c.2804G>C (p.Arg935Pro) c.1988G>C (p.Arg663Pro) c.1895G>C (p.Arg632Pro) | |
14 | g.67782839C>T | CA7239797 | ZFYVE26 | c.4313G>A (p.Arg1438Gln) n.4450G>A c.*2350+260G>A (n.*2350+260G>A) c.2804G>A (p.Arg935Gln) c.1988G>A (p.Arg663Gln) c.1895G>A (p.Arg632Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.67782839dup | CA2839862951 | ZFYVE26 | c.4313dup (p.Asp1439ArgfsTer20) n.4450dup c.*2350+260dup (n.*2350+260dup) c.2804dup (p.Asp936ArgfsTer20) c.1988dup (p.Asp664ArgfsTer20) c.1895dup (p.Asp633ArgfsTer20) | |
14 | g.67782840G>A | CA114476 | ZFYVE26 | c.4312C>T (p.Arg1438Ter) n.4449C>T c.*2350+259C>T (n.*2350+259C>T) c.2803C>T (p.Arg935Ter) c.1987C>T (p.Arg663Ter) c.1894C>T (p.Arg632Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.67782840G>C | CA390170159 | ZFYVE26 | c.4312C>G (p.Arg1438Gly) n.4449C>G c.*2350+259C>G (n.*2350+259C>G) c.2803C>G (p.Arg935Gly) c.1987C>G (p.Arg663Gly) c.1894C>G (p.Arg632Gly) | |
14 | g.67782840G= | CA2144027645 | ZFYVE26 | c.4312C= (p.Arg1438=) n.4449C= c.*2350+259C= (n.*2350+259C=) c.2803C= (p.Arg935=) c.1987C= (p.Arg663=) c.1894C= (p.Arg632=) | |
14 | g.67782840G>T | CA486970543 | ZFYVE26 | c.4312C>A (p.Arg1438=) n.4449C>A c.*2350+259C>A (n.*2350+259C>A) c.2803C>A (p.Arg935=) c.1987C>A (p.Arg663=) c.1894C>A (p.Arg632=) | ClinVar |
14 | g.67782841C>A | CA486970547 | ZFYVE26 | c.4311G>T (p.Gly1437=) n.4448G>T c.*2350+258G>T (n.*2350+258G>T) c.2802G>T (p.Gly934=) c.1986G>T (p.Gly662=) c.1893G>T (p.Gly631=) | |
14 | g.67782841C>G | CA486970548 | ZFYVE26 | c.4311G>C (p.Gly1437=) n.4448G>C c.*2350+258G>C (n.*2350+258G>C) c.2802G>C (p.Gly934=) c.1986G>C (p.Gly662=) c.1893G>C (p.Gly631=) | |
14 | g.67782841C>T | CA486970546 | ZFYVE26 | c.4311G>A (p.Gly1437=) n.4448G>A c.*2350+258G>A (n.*2350+258G>A) c.2802G>A (p.Gly934=) c.1986G>A (p.Gly662=) c.1893G>A (p.Gly631=) | |
14 | g.67782842C>A | CA390170165 | ZFYVE26 | c.4310G>T (p.Gly1437Val) n.4447G>T c.*2350+257G>T (n.*2350+257G>T) c.2801G>T (p.Gly934Val) c.1985G>T (p.Gly662Val) c.1892G>T (p.Gly631Val) | |
14 | g.67782842C= | CA2144027646 | ZFYVE26 | c.4310G= (p.Gly1437=) n.4447G= c.*2350+257G= (n.*2350+257G=) c.2801G= (p.Gly934=) c.1985G= (p.Gly662=) c.1892G= (p.Gly631=) | |
14 | g.67782842C>G | CA390170163 | ZFYVE26 | c.4310G>C (p.Gly1437Ala) n.4447G>C c.*2350+257G>C (n.*2350+257G>C) c.2801G>C (p.Gly934Ala) c.1985G>C (p.Gly662Ala) c.1892G>C (p.Gly631Ala) | |
14 | g.67782842C>T | CA390170161 | ZFYVE26 | c.4310G>A (p.Gly1437Glu) n.4447G>A c.*2350+257G>A (n.*2350+257G>A) c.2801G>A (p.Gly934Glu) c.1985G>A (p.Gly662Glu) c.1892G>A (p.Gly631Glu) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.67782843C>A | CA390170167 | ZFYVE26 | c.4309G>T (p.Gly1437Trp) n.4446G>T c.*2350+256G>T (n.*2350+256G>T) c.2800G>T (p.Gly934Trp) c.1984G>T (p.Gly662Trp) c.1891G>T (p.Gly631Trp) | |
14 | g.67782843C= | CA2144027647 | ZFYVE26 | c.4309G= (p.Gly1437=) n.4446G= c.*2350+256G= (n.*2350+256G=) c.2800G= (p.Gly934=) c.1984G= (p.Gly662=) c.1891G= (p.Gly631=) | |
14 | g.67782843C>G | CA390170170 | ZFYVE26 | c.4309G>C (p.Gly1437Arg) n.4446G>C c.*2350+256G>C (n.*2350+256G>C) c.2800G>C (p.Gly934Arg) c.1984G>C (p.Gly662Arg) c.1891G>C (p.Gly631Arg) | |
14 | g.67782843C>T | CA7239798 | ZFYVE26 | c.4309G>A (p.Gly1437Arg) n.4446G>A c.*2350+256G>A (n.*2350+256G>A) c.2800G>A (p.Gly934Arg) c.1984G>A (p.Gly662Arg) c.1891G>A (p.Gly631Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.67782844G>A | CA262848518 | ZFYVE26 | c.4308C>T (p.Tyr1436=) n.4445C>T c.*2350+255C>T (n.*2350+255C>T) c.2799C>T (p.Tyr933=) c.1983C>T (p.Tyr661=) c.1890C>T (p.Tyr630=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.67782844G>C | CA390170175 | ZFYVE26 | c.4308C>G (p.Tyr1436Ter) n.4445C>G c.*2350+255C>G (n.*2350+255C>G) c.2799C>G (p.Tyr933Ter) c.1983C>G (p.Tyr661Ter) c.1890C>G (p.Tyr630Ter) | ClinVar |
14 | g.67782844G= | CA2144027648 | ZFYVE26 | c.4308C= (p.Tyr1436=) n.4445C= c.*2350+255C= (n.*2350+255C=) c.2799C= (p.Tyr933=) c.1983C= (p.Tyr661=) c.1890C= (p.Tyr630=) | |
14 | g.67782844G>T | CA390170173 | ZFYVE26 | c.4308C>A (p.Tyr1436Ter) n.4445C>A c.*2350+255C>A (n.*2350+255C>A) c.2799C>A (p.Tyr933Ter) c.1983C>A (p.Tyr661Ter) c.1890C>A (p.Tyr630Ter) | |
14 | g.67782845T>A | CA390170179 | ZFYVE26 | c.4307A>T (p.Tyr1436Phe) n.4444A>T c.*2350+254A>T (n.*2350+254A>T) c.2798A>T (p.Tyr933Phe) c.1982A>T (p.Tyr661Phe) c.1889A>T (p.Tyr630Phe) | |
14 | g.67782845T>C | CA390170182 | ZFYVE26 | c.4307A>G (p.Tyr1436Cys) n.4444A>G c.*2350+254A>G (n.*2350+254A>G) c.2798A>G (p.Tyr933Cys) c.1982A>G (p.Tyr661Cys) c.1889A>G (p.Tyr630Cys) | |
14 | g.67782845T>G | CA390170180 | ZFYVE26 | c.4307A>C (p.Tyr1436Ser) n.4444A>C c.*2350+254A>C (n.*2350+254A>C) c.2798A>C (p.Tyr933Ser) c.1982A>C (p.Tyr661Ser) c.1889A>C (p.Tyr630Ser) | |
14 | g.67782846A>C | CA390170184 | ZFYVE26 | c.4306T>G (p.Tyr1436Asp) n.4443T>G c.*2350+253T>G (n.*2350+253T>G) c.2797T>G (p.Tyr933Asp) c.1981T>G (p.Tyr661Asp) c.1888T>G (p.Tyr630Asp) | |
14 | g.67782846A>G | CA390170186 | ZFYVE26 | c.4306T>C (p.Tyr1436His) n.4443T>C c.*2350+253T>C (n.*2350+253T>C) c.2797T>C (p.Tyr933His) c.1981T>C (p.Tyr661His) c.1888T>C (p.Tyr630His) | |
14 | g.67782846A>T | CA390170188 | ZFYVE26 | c.4306T>A (p.Tyr1436Asn) n.4443T>A c.*2350+253T>A (n.*2350+253T>A) c.2797T>A (p.Tyr933Asn) c.1981T>A (p.Tyr661Asn) c.1888T>A (p.Tyr630Asn) | |
14 | g.67782847C>A | CA486970553 | ZFYVE26 | c.4305G>T (p.Val1435=) n.4442G>T c.*2350+252G>T (n.*2350+252G>T) c.2796G>T (p.Val932=) c.1980G>T (p.Val660=) c.1887G>T (p.Val629=) | |
14 | g.67782847C= | CA2144027649 | ZFYVE26 | c.4305G= (p.Val1435=) n.4442G= c.*2350+252G= (n.*2350+252G=) c.2796G= (p.Val932=) c.1980G= (p.Val660=) c.1887G= (p.Val629=) | |
14 | g.67782847C>G | CA7239800 | ZFYVE26 | c.4305G>C (p.Val1435=) n.4442G>C c.*2350+252G>C (n.*2350+252G>C) c.2796G>C (p.Val932=) c.1980G>C (p.Val660=) c.1887G>C (p.Val629=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.67782847C>T | CA7239799 | ZFYVE26 | c.4305G>A (p.Val1435=) n.4442G>A c.*2350+252G>A (n.*2350+252G>A) c.2796G>A (p.Val932=) c.1980G>A (p.Val660=) c.1887G>A (p.Val629=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.67782848A= | CA2144027650 | ZFYVE26 | c.4304T= (p.Val1435=) n.4441T= c.*2350+251T= (n.*2350+251T=) c.2795T= (p.Val932=) c.1979T= (p.Val660=) c.1886T= (p.Val629=) | |
14 | g.67782848A>C | CA390170191 | ZFYVE26 | c.4304T>G (p.Val1435Gly) n.4441T>G c.*2350+251T>G (n.*2350+251T>G) c.2795T>G (p.Val932Gly) c.1979T>G (p.Val660Gly) c.1886T>G (p.Val629Gly) | ClinVar dbSNP |
14 | g.67782848A>G | CA390170193 | ZFYVE26 | c.4304T>C (p.Val1435Ala) n.4441T>C c.*2350+251T>C (n.*2350+251T>C) c.2795T>C (p.Val932Ala) c.1979T>C (p.Val660Ala) c.1886T>C (p.Val629Ala) | |
14 | g.67782848A>T | CA390170194 | ZFYVE26 | c.4304T>A (p.Val1435Glu) n.4441T>A c.*2350+251T>A (n.*2350+251T>A) c.2795T>A (p.Val932Glu) c.1979T>A (p.Val660Glu) c.1886T>A (p.Val629Glu) | ClinVar |
14 | g.67782849C>A | CA390170197 | ZFYVE26 | c.4303G>T (p.Val1435Leu) n.4440G>T c.*2350+250G>T (n.*2350+250G>T) c.2794G>T (p.Val932Leu) c.1978G>T (p.Val660Leu) c.1885G>T (p.Val629Leu) | |
14 | g.67782849C= | CA2144027651 | ZFYVE26 | c.4303G= (p.Val1435=) n.4440G= c.*2350+250G= (n.*2350+250G=) c.2794G= (p.Val932=) c.1978G= (p.Val660=) c.1885G= (p.Val629=) | |
14 | g.67782849C>G | CA390170199 | ZFYVE26 | c.4303G>C (p.Val1435Leu) n.4440G>C c.*2350+250G>C (n.*2350+250G>C) c.2794G>C (p.Val932Leu) c.1978G>C (p.Val660Leu) c.1885G>C (p.Val629Leu) | |
14 | g.67782849C>T | CA262848523 | ZFYVE26 | c.4303G>A (p.Val1435Met) n.4440G>A c.*2350+250G>A (n.*2350+250G>A) c.2794G>A (p.Val932Met) c.1978G>A (p.Val660Met) c.1885G>A (p.Val629Met) | dbSNP |
14 | g.67782850T>A | CA390170202 | ZFYVE26 | c.4302A>T (p.Glu1434Asp) n.4439A>T c.*2350+249A>T (n.*2350+249A>T) c.2793A>T (p.Glu931Asp) c.1977A>T (p.Glu659Asp) c.1884A>T (p.Glu628Asp) | ClinVar dbSNP |
14 | g.67782850T>C | CA7239801 | ZFYVE26 | c.4302A>G (p.Glu1434=) n.4439A>G c.*2350+249A>G (n.*2350+249A>G) c.2793A>G (p.Glu931=) c.1977A>G (p.Glu659=) c.1884A>G (p.Glu628=) | dbSNP ExAC gnomAD v4 |
14 | g.67782850T>G | CA390170204 | ZFYVE26 | c.4302A>C (p.Glu1434Asp) n.4439A>C c.*2350+249A>C (n.*2350+249A>C) c.2793A>C (p.Glu931Asp) c.1977A>C (p.Glu659Asp) c.1884A>C (p.Glu628Asp) | |
14 | g.67782850T= | CA2144027652 | ZFYVE26 | c.4302A= (p.Glu1434=) n.4439A= c.*2350+249A= (n.*2350+249A=) c.2793A= (p.Glu931=) c.1977A= (p.Glu659=) c.1884A= (p.Glu628=) | |
14 | g.67782851T>A | CA390170206 | ZFYVE26 | c.4301A>T (p.Glu1434Val) n.4438A>T c.*2350+248A>T (n.*2350+248A>T) c.2792A>T (p.Glu931Val) c.1976A>T (p.Glu659Val) c.1883A>T (p.Glu628Val) | |
14 | g.67782851T>C | CA390170208 | ZFYVE26 | c.4301A>G (p.Glu1434Gly) n.4438A>G c.*2350+248A>G (n.*2350+248A>G) c.2792A>G (p.Glu931Gly) c.1976A>G (p.Glu659Gly) c.1883A>G (p.Glu628Gly) | |
14 | g.67782851T>G | CA7239802 | ZFYVE26 | c.4301A>C (p.Glu1434Ala) n.4438A>C c.*2350+248A>C (n.*2350+248A>C) c.2792A>C (p.Glu931Ala) c.1976A>C (p.Glu659Ala) c.1883A>C (p.Glu628Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.67782851T= | CA2144027653 | ZFYVE26 | c.4301A= (p.Glu1434=) n.4438A= c.*2350+248A= (n.*2350+248A=) c.2792A= (p.Glu931=) c.1976A= (p.Glu659=) c.1883A= (p.Glu628=) | |
14 | g.67782852C>A | CA390170211 | ZFYVE26 | c.4300G>T (p.Glu1434Ter) n.4437G>T c.*2350+247G>T (n.*2350+247G>T) c.2791G>T (p.Glu931Ter) c.1975G>T (p.Glu659Ter) c.1882G>T (p.Glu628Ter) | |
14 | g.67782852C>G | CA390170213 | ZFYVE26 | c.4300G>C (p.Glu1434Gln) n.4437G>C c.*2350+247G>C (n.*2350+247G>C) c.2791G>C (p.Glu931Gln) c.1975G>C (p.Glu659Gln) c.1882G>C (p.Glu628Gln) | |
14 | g.67782852C>T | CA390170215 | ZFYVE26 | c.4300G>A (p.Glu1434Lys) n.4437G>A c.*2350+247G>A (n.*2350+247G>A) c.2791G>A (p.Glu931Lys) c.1975G>A (p.Glu659Lys) c.1882G>A (p.Glu628Lys) | |
14 | g.67782853A>C | CA486970555 | ZFYVE26 | c.4299T>G (p.Thr1433=) n.4436T>G c.*2350+246T>G (n.*2350+246T>G) c.2790T>G (p.Thr930=) c.1974T>G (p.Thr658=) c.1881T>G (p.Thr627=) | |
14 | g.67782853A>G | CA486970557 | ZFYVE26 | c.4299T>C (p.Thr1433=) n.4436T>C c.*2350+246T>C (n.*2350+246T>C) c.2790T>C (p.Thr930=) c.1974T>C (p.Thr658=) c.1881T>C (p.Thr627=) | |
14 | g.67782853A>T | CA486970559 | ZFYVE26 | c.4299T>A (p.Thr1433=) n.4436T>A c.*2350+246T>A (n.*2350+246T>A) c.2790T>A (p.Thr930=) c.1974T>A (p.Thr658=) c.1881T>A (p.Thr627=) | |
14 | g.67782854G>A | CA390170216 | ZFYVE26 | c.4298C>T (p.Thr1433Ile) n.4435C>T c.*2350+245C>T (n.*2350+245C>T) c.2789C>T (p.Thr930Ile) c.1973C>T (p.Thr658Ile) c.1880C>T (p.Thr627Ile) | |
14 | g.67782854G>C | CA390170218 | ZFYVE26 | c.4298C>G (p.Thr1433Ser) n.4435C>G c.*2350+245C>G (n.*2350+245C>G) c.2789C>G (p.Thr930Ser) c.1973C>G (p.Thr658Ser) c.1880C>G (p.Thr627Ser) | |
14 | g.67782854G>T | CA390170220 | ZFYVE26 | c.4298C>A (p.Thr1433Asn) n.4435C>A c.*2350+245C>A (n.*2350+245C>A) c.2789C>A (p.Thr930Asn) c.1973C>A (p.Thr658Asn) c.1880C>A (p.Thr627Asn) | |
14 | g.67782855T>A | CA390170224 | ZFYVE26 | c.4297A>T (p.Thr1433Ser) n.4434A>T c.*2350+244A>T (n.*2350+244A>T) c.2788A>T (p.Thr930Ser) c.1972A>T (p.Thr658Ser) c.1879A>T (p.Thr627Ser) | |
14 | g.67782855T>C | CA7239803 | ZFYVE26 | c.4297A>G (p.Thr1433Ala) n.4434A>G c.*2350+244A>G (n.*2350+244A>G) c.2788A>G (p.Thr930Ala) c.1972A>G (p.Thr658Ala) c.1879A>G (p.Thr627Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.67782855T>G | CA390170222 | ZFYVE26 | c.4297A>C (p.Thr1433Pro) n.4434A>C c.*2350+244A>C (n.*2350+244A>C) c.2788A>C (p.Thr930Pro) c.1972A>C (p.Thr658Pro) c.1879A>C (p.Thr627Pro) | |
14 | g.67782855T= | CA2144027654 | ZFYVE26 | c.4297A= (p.Thr1433=) n.4434A= c.*2350+244A= (n.*2350+244A=) c.2788A= (p.Thr930=) c.1972A= (p.Thr658=) c.1879A= (p.Thr627=) | |
14 | g.67782856G>A | CA486970563 | ZFYVE26 | c.4296C>T (p.Leu1432=) n.4433C>T c.*2350+243C>T (n.*2350+243C>T) c.2787C>T (p.Leu929=) c.1971C>T (p.Leu657=) c.1878C>T (p.Leu626=) | gnomAD v4 |
14 | g.67782856G>C | CA486970564 | ZFYVE26 | c.4296C>G (p.Leu1432=) n.4433C>G c.*2350+243C>G (n.*2350+243C>G) c.2787C>G (p.Leu929=) c.1971C>G (p.Leu657=) c.1878C>G (p.Leu626=) | |
14 | g.67782856G>T | CA486970565 | ZFYVE26 | c.4296C>A (p.Leu1432=) n.4433C>A c.*2350+243C>A (n.*2350+243C>A) c.2787C>A (p.Leu929=) c.1971C>A (p.Leu657=) c.1878C>A (p.Leu626=) | |
14 | g.67782857A>C | CA390170226 | ZFYVE26 | c.4295T>G (p.Leu1432Arg) n.4432T>G c.*2350+242T>G (n.*2350+242T>G) c.2786T>G (p.Leu929Arg) c.1970T>G (p.Leu657Arg) c.1877T>G (p.Leu626Arg) | |
14 | g.67782857A>G | CA390170228 | ZFYVE26 | c.4295T>C (p.Leu1432Pro) n.4432T>C c.*2350+242T>C (n.*2350+242T>C) c.2786T>C (p.Leu929Pro) c.1970T>C (p.Leu657Pro) c.1877T>C (p.Leu626Pro) | |
14 | g.67782857A>T | CA390170229 | ZFYVE26 | c.4295T>A (p.Leu1432His) n.4432T>A c.*2350+242T>A (n.*2350+242T>A) c.2786T>A (p.Leu929His) c.1970T>A (p.Leu657His) c.1877T>A (p.Leu626His) | |
14 | g.67782858G>A | CA390170231 | ZFYVE26 | c.4294C>T (p.Leu1432Phe) n.4431C>T c.*2350+241C>T (n.*2350+241C>T) c.2785C>T (p.Leu929Phe) c.1969C>T (p.Leu657Phe) c.1876C>T (p.Leu626Phe) | dbSNP gnomAD v4 |
14 | g.67782858G>C | CA390170233 | ZFYVE26 | c.4294C>G (p.Leu1432Val) n.4431C>G c.*2350+241C>G (n.*2350+241C>G) c.2785C>G (p.Leu929Val) c.1969C>G (p.Leu657Val) c.1876C>G (p.Leu626Val) | |
14 | g.67782858G= | CA2144027655 | ZFYVE26 | c.4294C= (p.Leu1432=) n.4431C= c.*2350+241C= (n.*2350+241C=) c.2785C= (p.Leu929=) c.1969C= (p.Leu657=) c.1876C= (p.Leu626=) | |
14 | g.67782858G>T | CA390170235 | ZFYVE26 | c.4294C>A (p.Leu1432Ile) n.4431C>A c.*2350+241C>A (n.*2350+241C>A) c.2785C>A (p.Leu929Ile) c.1969C>A (p.Leu657Ile) c.1876C>A (p.Leu626Ile) | |
14 | g.67782859C>A | CA390170237 | ZFYVE26 | c.4293G>T (p.Gln1431His) n.4430G>T c.*2350+240G>T (n.*2350+240G>T) c.2784G>T (p.Gln928His) c.1968G>T (p.Gln656His) c.1875G>T (p.Gln625His) | gnomAD v4 |
14 | g.67782859C= | CA2144027656 | ZFYVE26 | c.4293G= (p.Gln1431=) n.4430G= c.*2350+240G= (n.*2350+240G=) c.2784G= (p.Gln928=) c.1968G= (p.Gln656=) c.1875G= (p.Gln625=) | |
14 | g.67782859C>G | CA7239804 | ZFYVE26 | c.4293G>C (p.Gln1431His) n.4430G>C c.*2350+240G>C (n.*2350+240G>C) c.2784G>C (p.Gln928His) c.1968G>C (p.Gln656His) c.1875G>C (p.Gln625His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.67782859C>T | CA486970570 | ZFYVE26 | c.4293G>A (p.Gln1431=) n.4430G>A c.*2350+240G>A (n.*2350+240G>A) c.2784G>A (p.Gln928=) c.1968G>A (p.Gln656=) c.1875G>A (p.Gln625=) | COSMIC |
14 | g.67782860T>A | CA390170240 | ZFYVE26 | c.4292A>T (p.Gln1431Leu) n.4429A>T c.*2350+239A>T (n.*2350+239A>T) c.2783A>T (p.Gln928Leu) c.1967A>T (p.Gln656Leu) c.1874A>T (p.Gln625Leu) | |
14 | g.67782860T>C | CA390170241 | ZFYVE26 | c.4292A>G (p.Gln1431Arg) n.4429A>G c.*2350+239A>G (n.*2350+239A>G) c.2783A>G (p.Gln928Arg) c.1967A>G (p.Gln656Arg) c.1874A>G (p.Gln625Arg) | |
14 | g.67782860T>G | CA390170243 | ZFYVE26 | c.4292A>C (p.Gln1431Pro) n.4429A>C c.*2350+239A>C (n.*2350+239A>C) c.2783A>C (p.Gln928Pro) c.1967A>C (p.Gln656Pro) c.1874A>C (p.Gln625Pro) | |
14 | g.67782861G>A | CA390170249 | ZFYVE26 | c.4291C>T (p.Gln1431Ter) n.4428C>T c.*2350+238C>T (n.*2350+238C>T) c.2782C>T (p.Gln928Ter) c.1966C>T (p.Gln656Ter) c.1873C>T (p.Gln625Ter) | ClinVar dbSNP |
14 | g.67782861G>C | CA390170247 | ZFYVE26 | c.4291C>G (p.Gln1431Glu) n.4428C>G c.*2350+238C>G (n.*2350+238C>G) c.2782C>G (p.Gln928Glu) c.1966C>G (p.Gln656Glu) c.1873C>G (p.Gln625Glu) | |
14 | g.67782861G>T | CA390170245 | ZFYVE26 | c.4291C>A (p.Gln1431Lys) n.4428C>A c.*2350+238C>A (n.*2350+238C>A) c.2782C>A (p.Gln928Lys) c.1966C>A (p.Gln656Lys) c.1873C>A (p.Gln625Lys) | |
14 | g.67782862A>C | CA486970576 | ZFYVE26 | c.4290T>G (p.Leu1430=) n.4427T>G c.*2350+237T>G (n.*2350+237T>G) c.2781T>G (p.Leu927=) c.1965T>G (p.Leu655=) c.1872T>G (p.Leu624=) | |
14 | g.67782862A>G | CA486970577 | ZFYVE26 | c.4290T>C (p.Leu1430=) n.4427T>C c.*2350+237T>C (n.*2350+237T>C) c.2781T>C (p.Leu927=) c.1965T>C (p.Leu655=) c.1872T>C (p.Leu624=) | |
14 | g.67782862A>T | CA486970575 | ZFYVE26 | c.4290T>A (p.Leu1430=) n.4427T>A c.*2350+237T>A (n.*2350+237T>A) c.2781T>A (p.Leu927=) c.1965T>A (p.Leu655=) c.1872T>A (p.Leu624=) | |
14 | g.67782863A>C | CA390170251 | ZFYVE26 | c.4289T>G (p.Leu1430Arg) n.4426T>G c.*2350+236T>G (n.*2350+236T>G) c.2780T>G (p.Leu927Arg) c.1964T>G (p.Leu655Arg) c.1871T>G (p.Leu624Arg) | |
14 | g.67782863A>G | CA390170252 | ZFYVE26 | c.4289T>C (p.Leu1430Pro) n.4426T>C c.*2350+236T>C (n.*2350+236T>C) c.2780T>C (p.Leu927Pro) c.1964T>C (p.Leu655Pro) c.1871T>C (p.Leu624Pro) | |
14 | g.67782863A>T | CA390170254 | ZFYVE26 | c.4289T>A (p.Leu1430His) n.4426T>A c.*2350+236T>A (n.*2350+236T>A) c.2780T>A (p.Leu927His) c.1964T>A (p.Leu655His) c.1871T>A (p.Leu624His) | |
14 | g.67782864G>A | CA390170256 | ZFYVE26 | c.4288C>T (p.Leu1430Phe) n.4425C>T c.*2350+235C>T (n.*2350+235C>T) c.2779C>T (p.Leu927Phe) c.1963C>T (p.Leu655Phe) c.1870C>T (p.Leu624Phe) | ClinVar |
14 | g.67782864G>C | CA390170257 | ZFYVE26 | c.4288C>G (p.Leu1430Val) n.4425C>G c.*2350+235C>G (n.*2350+235C>G) c.2779C>G (p.Leu927Val) c.1963C>G (p.Leu655Val) c.1870C>G (p.Leu624Val) | dbSNP gnomAD v2 |
14 | g.67782864G= | CA2144027657 | ZFYVE26 | c.4288C= (p.Leu1430=) n.4425C= c.*2350+235C= (n.*2350+235C=) c.2779C= (p.Leu927=) c.1963C= (p.Leu655=) c.1870C= (p.Leu624=) | |
14 | g.67782864G>T | CA390170259 | ZFYVE26 | c.4288C>A (p.Leu1430Ile) n.4425C>A c.*2350+235C>A (n.*2350+235C>A) c.2779C>A (p.Leu927Ile) c.1963C>A (p.Leu655Ile) c.1870C>A (p.Leu624Ile) | |
14 | g.67782865G>A | CA486970581 | ZFYVE26 | c.4287C>T (p.Ala1429=) n.4424C>T c.*2350+234C>T (n.*2350+234C>T) c.2778C>T (p.Ala926=) c.1962C>T (p.Ala654=) c.1869C>T (p.Ala623=) | ClinVar dbSNP gnomAD v4 |
14 | g.67782865G>C | CA486970582 | ZFYVE26 | c.4287C>G (p.Ala1429=) n.4424C>G c.*2350+234C>G (n.*2350+234C>G) c.2778C>G (p.Ala926=) c.1962C>G (p.Ala654=) c.1869C>G (p.Ala623=) | |
14 | g.67782865G>T | CA486970584 | ZFYVE26 | c.4287C>A (p.Ala1429=) n.4424C>A c.*2350+234C>A (n.*2350+234C>A) c.2778C>A (p.Ala926=) c.1962C>A (p.Ala654=) c.1869C>A (p.Ala623=) | |
14 | g.67782866G>A | CA390170262 | ZFYVE26 | c.4286C>T (p.Ala1429Val) n.4423C>T c.*2350+233C>T (n.*2350+233C>T) c.2777C>T (p.Ala926Val) c.1961C>T (p.Ala654Val) c.1868C>T (p.Ala623Val) | |
14 | g.67782866G>C | CA390170263 | ZFYVE26 | c.4286C>G (p.Ala1429Gly) n.4423C>G c.*2350+233C>G (n.*2350+233C>G) c.2777C>G (p.Ala926Gly) c.1961C>G (p.Ala654Gly) c.1868C>G (p.Ala623Gly) | |
14 | g.67782866G>T | CA390170265 | ZFYVE26 | c.4286C>A (p.Ala1429Asp) n.4423C>A c.*2350+233C>A (n.*2350+233C>A) c.2777C>A (p.Ala926Asp) c.1961C>A (p.Ala654Asp) c.1868C>A (p.Ala623Asp) | |
14 | g.67782867C>A | CA390170268 | ZFYVE26 | c.4285G>T (p.Ala1429Ser) n.4422G>T c.*2350+232G>T (n.*2350+232G>T) c.2776G>T (p.Ala926Ser) c.1960G>T (p.Ala654Ser) c.1867G>T (p.Ala623Ser) | |
14 | g.67782867C= | CA2144027658 | ZFYVE26 | c.4285G= (p.Ala1429=) n.4422G= c.*2350+232G= (n.*2350+232G=) c.2776G= (p.Ala926=) c.1960G= (p.Ala654=) c.1867G= (p.Ala623=) | |
14 | g.67782867C>G | CA390170269 | ZFYVE26 | c.4285G>C (p.Ala1429Pro) n.4422G>C c.*2350+232G>C (n.*2350+232G>C) c.2776G>C (p.Ala926Pro) c.1960G>C (p.Ala654Pro) c.1867G>C (p.Ala623Pro) | |
14 | g.67782867C>T | CA7239805 | ZFYVE26 | c.4285G>A (p.Ala1429Thr) n.4422G>A c.*2350+232G>A (n.*2350+232G>A) c.2776G>A (p.Ala926Thr) c.1960G>A (p.Ala654Thr) c.1867G>A (p.Ala623Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.67782868C>A | CA7239806 | ZFYVE26 | c.4284G>T (p.Arg1428=) n.4421G>T c.*2350+231G>T (n.*2350+231G>T) c.2775G>T (p.Arg925=) c.1959G>T (p.Arg653=) c.1866G>T (p.Arg622=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.67782868C= | CA2144027659 | ZFYVE26 | c.4284G= (p.Arg1428=) n.4421G= c.*2350+231G= (n.*2350+231G=) c.2775G= (p.Arg925=) c.1959G= (p.Arg653=) c.1866G= (p.Arg622=) | |
14 | g.67782868C>G | CA486970586 | ZFYVE26 | c.4284G>C (p.Arg1428=) n.4421G>C c.*2350+231G>C (n.*2350+231G>C) c.2775G>C (p.Arg925=) c.1959G>C (p.Arg653=) c.1866G>C (p.Arg622=) | |
14 | g.67782868C>T | CA486970587 | ZFYVE26 | c.4284G>A (p.Arg1428=) n.4421G>A c.*2350+231G>A (n.*2350+231G>A) c.2775G>A (p.Arg925=) c.1959G>A (p.Arg653=) c.1866G>A (p.Arg622=) | |
14 | g.67782869C>A | CA390170275 | ZFYVE26 | c.4283G>T (p.Arg1428Leu) n.4420G>T c.*2350+230G>T (n.*2350+230G>T) c.2774G>T (p.Arg925Leu) c.1958G>T (p.Arg653Leu) c.1865G>T (p.Arg622Leu) | ClinVar dbSNP gnomAD v4 |
14 | g.67782869C= | CA2144027660 | ZFYVE26 | c.4283G= (p.Arg1428=) n.4420G= c.*2350+230G= (n.*2350+230G=) c.2774G= (p.Arg925=) c.1958G= (p.Arg653=) c.1865G= (p.Arg622=) | |
14 | g.67782869C>G | CA390170277 | ZFYVE26 | c.4283G>C (p.Arg1428Pro) n.4420G>C c.*2350+230G>C (n.*2350+230G>C) c.2774G>C (p.Arg925Pro) c.1958G>C (p.Arg653Pro) c.1865G>C (p.Arg622Pro) | |
14 | g.67782869C>T | CA7239807 | ZFYVE26 | c.4283G>A (p.Arg1428Gln) n.4420G>A c.*2350+230G>A (n.*2350+230G>A) c.2774G>A (p.Arg925Gln) c.1958G>A (p.Arg653Gln) c.1865G>A (p.Arg622Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.67782869_67782870delinsA | CA2580088643 | ZFYVE26 | c.4282_4283delinsT (p.Arg1428TrpfsTer16) n.4419_4420delinsT c.*2350+229_*2350+230delinsT (n.*2350+229_*2350+230delinsT) c.2773_2774delinsT (p.Arg925TrpfsTer16) c.1957_1958delinsT (p.Arg653TrpfsTer16) c.1864_1865delinsT (p.Arg622TrpfsTer16) | ClinVar |
14 | g.67782870G>A | CA7239808 | ZFYVE26 | c.4282C>T (p.Arg1428Trp) n.4419C>T c.*2350+229C>T (n.*2350+229C>T) c.2773C>T (p.Arg925Trp) c.1957C>T (p.Arg653Trp) c.1864C>T (p.Arg622Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.67782870G>C | CA390170279 | ZFYVE26 | c.4282C>G (p.Arg1428Gly) n.4419C>G c.*2350+229C>G (n.*2350+229C>G) c.2773C>G (p.Arg925Gly) c.1957C>G (p.Arg653Gly) c.1864C>G (p.Arg622Gly) | |
14 | g.67782870G= | CA2144027661 | ZFYVE26 | c.4282C= (p.Arg1428=) n.4419C= c.*2350+229C= (n.*2350+229C=) c.2773C= (p.Arg925=) c.1957C= (p.Arg653=) c.1864C= (p.Arg622=) | |
14 | g.67782870G>T | CA486970588 | ZFYVE26 | c.4282C>A (p.Arg1428=) n.4419C>A c.*2350+229C>A (n.*2350+229C>A) c.2773C>A (p.Arg925=) c.1957C>A (p.Arg653=) c.1864C>A (p.Arg622=) | COSMIC |
14 | g.67782871G>A | CA486970589 | ZFYVE26 | c.4281C>T (p.Ser1427=) n.4418C>T c.*2350+228C>T (n.*2350+228C>T) c.2772C>T (p.Ser924=) c.1956C>T (p.Ser652=) c.1863C>T (p.Ser621=) | |
14 | g.67782871G>C | CA486970590 | ZFYVE26 | c.4281C>G (p.Ser1427=) n.4418C>G c.*2350+228C>G (n.*2350+228C>G) c.2772C>G (p.Ser924=) c.1956C>G (p.Ser652=) c.1863C>G (p.Ser621=) | |
14 | g.67782871G= | CA2144027662 | ZFYVE26 | c.4281C= (p.Ser1427=) n.4418C= c.*2350+228C= (n.*2350+228C=) c.2772C= (p.Ser924=) c.1956C= (p.Ser652=) c.1863C= (p.Ser621=) | |
14 | g.67782871G>T | CA486970591 | ZFYVE26 | c.4281C>A (p.Ser1427=) n.4418C>A c.*2350+228C>A (n.*2350+228C>A) c.2772C>A (p.Ser924=) c.1956C>A (p.Ser652=) c.1863C>A (p.Ser621=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.67782872G>A | CA7239809 | ZFYVE26 | c.4280C>T (p.Ser1427Phe) n.4417C>T c.*2350+227C>T (n.*2350+227C>T) c.2771C>T (p.Ser924Phe) c.1955C>T (p.Ser652Phe) c.1862C>T (p.Ser621Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.67782872G>C | CA390170283 | ZFYVE26 | c.4280C>G (p.Ser1427Cys) n.4417C>G c.*2350+227C>G (n.*2350+227C>G) c.2771C>G (p.Ser924Cys) c.1955C>G (p.Ser652Cys) c.1862C>G (p.Ser621Cys) | |
14 | g.67782872G= | CA2144027663 | ZFYVE26 | c.4280C= (p.Ser1427=) n.4417C= c.*2350+227C= (n.*2350+227C=) c.2771C= (p.Ser924=) c.1955C= (p.Ser652=) c.1862C= (p.Ser621=) | |
14 | g.67782872G>T | CA390170285 | ZFYVE26 | c.4280C>A (p.Ser1427Tyr) n.4417C>A c.*2350+227C>A (n.*2350+227C>A) c.2771C>A (p.Ser924Tyr) c.1955C>A (p.Ser652Tyr) c.1862C>A (p.Ser621Tyr) | |
14 | g.67782873A= | CA2144027664 | ZFYVE26 | c.4279T= (p.Ser1427=) n.4416T= c.*2350+226T= (n.*2350+226T=) c.2770T= (p.Ser924=) c.1954T= (p.Ser652=) c.1861T= (p.Ser621=) | |
14 | g.67782873A>C | CA390170286 | ZFYVE26 | c.4279T>G (p.Ser1427Ala) n.4416T>G c.*2350+226T>G (n.*2350+226T>G) c.2770T>G (p.Ser924Ala) c.1954T>G (p.Ser652Ala) c.1861T>G (p.Ser621Ala) | dbSNP |
14 | g.67782873A>G | CA390170287 | ZFYVE26 | c.4279T>C (p.Ser1427Pro) n.4416T>C c.*2350+226T>C (n.*2350+226T>C) c.2770T>C (p.Ser924Pro) c.1954T>C (p.Ser652Pro) c.1861T>C (p.Ser621Pro) | |
14 | g.67782873A>T | CA390170289 | ZFYVE26 | c.4279T>A (p.Ser1427Thr) n.4416T>A c.*2350+226T>A (n.*2350+226T>A) c.2770T>A (p.Ser924Thr) c.1954T>A (p.Ser652Thr) c.1861T>A (p.Ser621Thr) | |
14 | g.67782874C>A | CA390170292 | ZFYVE26 | c.4278G>T (p.Trp1426Cys) n.4415G>T c.*2350+225G>T (n.*2350+225G>T) c.2769G>T (p.Trp923Cys) c.1953G>T (p.Trp651Cys) c.1860G>T (p.Trp620Cys) | |
14 | g.67782874C>G | CA390170293 | ZFYVE26 | c.4278G>C (p.Trp1426Cys) n.4415G>C c.*2350+225G>C (n.*2350+225G>C) c.2769G>C (p.Trp923Cys) c.1953G>C (p.Trp651Cys) c.1860G>C (p.Trp620Cys) | |
14 | g.67782874C>T | CA390170294 | ZFYVE26 | c.4278G>A (p.Trp1426Ter) n.4415G>A c.*2350+225G>A (n.*2350+225G>A) c.2769G>A (p.Trp923Ter) c.1953G>A (p.Trp651Ter) c.1860G>A (p.Trp620Ter) | |
14 | g.67782875C>A | CA7239810 | ZFYVE26 | c.4277G>T (p.Trp1426Leu) n.4414G>T c.*2350+224G>T (n.*2350+224G>T) c.2768G>T (p.Trp923Leu) c.1952G>T (p.Trp651Leu) c.1859G>T (p.Trp620Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.67782875C= | CA2144027665 | ZFYVE26 | c.4277G= (p.Trp1426=) n.4414G= c.*2350+224G= (n.*2350+224G=) c.2768G= (p.Trp923=) c.1952G= (p.Trp651=) c.1859G= (p.Trp620=) | |
14 | g.67782875C>G | CA390170297 | ZFYVE26 | c.4277G>C (p.Trp1426Ser) n.4414G>C c.*2350+224G>C (n.*2350+224G>C) c.2768G>C (p.Trp923Ser) c.1952G>C (p.Trp651Ser) c.1859G>C (p.Trp620Ser) | |
14 | g.67782875C>T | CA390170299 | ZFYVE26 | c.4277G>A (p.Trp1426Ter) n.4414G>A c.*2350+224G>A (n.*2350+224G>A) c.2768G>A (p.Trp923Ter) c.1952G>A (p.Trp651Ter) c.1859G>A (p.Trp620Ter) | dbSNP |
14 | g.67782876A>C | CA390170302 | ZFYVE26 | c.4276T>G (p.Trp1426Gly) n.4413T>G c.*2350+223T>G (n.*2350+223T>G) c.2767T>G (p.Trp923Gly) c.1951T>G (p.Trp651Gly) c.1858T>G (p.Trp620Gly) | |
14 | g.67782876A>G | CA390170305 | ZFYVE26 | c.4276T>C (p.Trp1426Arg) n.4413T>C c.*2350+223T>C (n.*2350+223T>C) c.2767T>C (p.Trp923Arg) c.1951T>C (p.Trp651Arg) c.1858T>C (p.Trp620Arg) | |
14 | g.67782876A>T | CA390170303 | ZFYVE26 | c.4276T>A (p.Trp1426Arg) n.4413T>A c.*2350+223T>A (n.*2350+223T>A) c.2767T>A (p.Trp923Arg) c.1951T>A (p.Trp651Arg) c.1858T>A (p.Trp620Arg) | COSMIC |
14 | g.67782877A>C | CA390170307 | ZFYVE26 | c.4275T>G (p.Asp1425Glu) n.4412T>G c.*2350+222T>G (n.*2350+222T>G) c.2766T>G (p.Asp922Glu) c.1950T>G (p.Asp650Glu) c.1857T>G (p.Asp619Glu) | |
14 | g.67782877A>G | CA486970595 | ZFYVE26 | c.4275T>C (p.Asp1425=) n.4412T>C c.*2350+222T>C (n.*2350+222T>C) c.2766T>C (p.Asp922=) c.1950T>C (p.Asp650=) c.1857T>C (p.Asp619=) | gnomAD v4 |
14 | g.67782877A>T | CA390170309 | ZFYVE26 | c.4275T>A (p.Asp1425Glu) n.4412T>A c.*2350+222T>A (n.*2350+222T>A) c.2766T>A (p.Asp922Glu) c.1950T>A (p.Asp650Glu) c.1857T>A (p.Asp619Glu) | COSMIC |
14 | g.67782878T>A | CA390170311 | ZFYVE26 | c.4274A>T (p.Asp1425Val) n.4411A>T c.*2350+221A>T (n.*2350+221A>T) c.2765A>T (p.Asp922Val) c.1949A>T (p.Asp650Val) c.1856A>T (p.Asp619Val) | |
14 | g.67782878T>C | CA390170313 | ZFYVE26 | c.4274A>G (p.Asp1425Gly) n.4411A>G c.*2350+221A>G (n.*2350+221A>G) c.2765A>G (p.Asp922Gly) c.1949A>G (p.Asp650Gly) c.1856A>G (p.Asp619Gly) | gnomAD v4 |
14 | g.67782878T>G | CA390170314 | ZFYVE26 | c.4274A>C (p.Asp1425Ala) n.4411A>C c.*2350+221A>C (n.*2350+221A>C) c.2765A>C (p.Asp922Ala) c.1949A>C (p.Asp650Ala) c.1856A>C (p.Asp619Ala) | |
14 | g.67782879C>A | CA390170317 | ZFYVE26 | c.4273G>T (p.Asp1425Tyr) n.4410G>T c.*2350+220G>T (n.*2350+220G>T) c.2764G>T (p.Asp922Tyr) c.1948G>T (p.Asp650Tyr) c.1855G>T (p.Asp619Tyr) | |
14 | g.67782879C>G | CA390170318 | ZFYVE26 | c.4273G>C (p.Asp1425His) n.4410G>C c.*2350+220G>C (n.*2350+220G>C) c.2764G>C (p.Asp922His) c.1948G>C (p.Asp650His) c.1855G>C (p.Asp619His) | |
14 | g.67782879C>T | CA390170320 | ZFYVE26 | c.4273G>A (p.Asp1425Asn) n.4410G>A c.*2350+220G>A (n.*2350+220G>A) c.2764G>A (p.Asp922Asn) c.1948G>A (p.Asp650Asn) c.1855G>A (p.Asp619Asn) | gnomAD v4 |
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) |