Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.53984901_53984905dup | CA876330557 | PHF8 | c.2140+12_2140+16dup (n.2140+12_2140+16dup) c.2443+12_2443+16dup (n.2443+12_2443+16dup) c.*898+12_*898+16dup (n.*898+12_*898+16dup) c.*1885+12_*1885+16dup (n.*1885+12_*1885+16dup) n.1807+12_1807+16dup c.2392+12_2392+16dup (n.2392+12_2392+16dup) c.2551+12_2551+16dup (n.2551+12_2551+16dup) c.2154+12_2154+16dup c.1733+12_1733+16dup c.870+12_870+16dup (n.870+12_870+16dup) c.2248+12_2248+16dup (n.2248+12_2248+16dup) | dbSNP |
X | g.53984902A= | CA2430030641 | PHF8 | c.2140+12T= (n.2140+12T=) c.2443+12T= (n.2443+12T=) c.*898+12T= (n.*898+12T=) c.*1885+12T= (n.*1885+12T=) n.1807+12T= c.2392+12T= (n.2392+12T=) c.2551+12T= (n.2551+12T=) c.2154+12T= c.1733+12T= c.870+12T= (n.870+12T=) c.2248+12T= (n.2248+12T=) | |
X | g.53984902A>G | CA2430030642 | PHF8 | c.2140+12T>C (n.2140+12T>C) c.2443+12T>C (n.2443+12T>C) c.*898+12T>C (n.*898+12T>C) c.*1885+12T>C (n.*1885+12T>C) n.1807+12T>C c.2392+12T>C (n.2392+12T>C) c.2551+12T>C (n.2551+12T>C) c.2154+12T>C c.1733+12T>C c.870+12T>C (n.870+12T>C) c.2248+12T>C (n.2248+12T>C) | dbSNP |
X | g.53984903G>A | CA10423293 | PHF8 | c.2140+11C>T (n.2140+11C>T) c.2443+11C>T (n.2443+11C>T) c.*898+11C>T (n.*898+11C>T) c.*1885+11C>T (n.*1885+11C>T) n.1807+11C>T c.2392+11C>T (n.2392+11C>T) c.2551+11C>T (n.2551+11C>T) c.2154+11C>T c.1733+11C>T c.870+11C>T (n.870+11C>T) c.2248+11C>T (n.2248+11C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53984903G= | CA2430030643 | PHF8 | c.2140+11C= (n.2140+11C=) c.2443+11C= (n.2443+11C=) c.*898+11C= (n.*898+11C=) c.*1885+11C= (n.*1885+11C=) n.1807+11C= c.2392+11C= (n.2392+11C=) c.2551+11C= (n.2551+11C=) c.2154+11C= c.1733+11C= c.870+11C= (n.870+11C=) c.2248+11C= (n.2248+11C=) | |
X | g.53984903G>T | CA2579619381 | PHF8 | c.2140+11C>A (n.2140+11C>A) c.2443+11C>A (n.2443+11C>A) c.*898+11C>A (n.*898+11C>A) c.*1885+11C>A (n.*1885+11C>A) n.1807+11C>A c.2392+11C>A (n.2392+11C>A) c.2551+11C>A (n.2551+11C>A) c.2154+11C>A c.1733+11C>A c.870+11C>A (n.870+11C>A) c.2248+11C>A (n.2248+11C>A) | gnomAD v4 |
X | g.53984904C>T | CA2579619382 | PHF8 | c.2140+10G>A (n.2140+10G>A) c.2443+10G>A (n.2443+10G>A) c.*898+10G>A (n.*898+10G>A) c.*1885+10G>A (n.*1885+10G>A) n.1807+10G>A c.2392+10G>A (n.2392+10G>A) c.2551+10G>A (n.2551+10G>A) c.2154+10G>A c.1733+10G>A c.870+10G>A (n.870+10G>A) c.2248+10G>A (n.2248+10G>A) | gnomAD v4 |
X | g.53984905T>C | CA10423294 | PHF8 | c.2140+9A>G (n.2140+9A>G) c.2443+9A>G (n.2443+9A>G) c.*898+9A>G (n.*898+9A>G) c.*1885+9A>G (n.*1885+9A>G) n.1807+9A>G c.2392+9A>G (n.2392+9A>G) c.2551+9A>G (n.2551+9A>G) c.2154+9A>G c.1733+9A>G c.870+9A>G (n.870+9A>G) c.2248+9A>G (n.2248+9A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53984905T= | CA2430030644 | PHF8 | c.2140+9A= (n.2140+9A=) c.2443+9A= (n.2443+9A=) c.*898+9A= (n.*898+9A=) c.*1885+9A= (n.*1885+9A=) n.1807+9A= c.2392+9A= (n.2392+9A=) c.2551+9A= (n.2551+9A=) c.2154+9A= c.1733+9A= c.870+9A= (n.870+9A=) c.2248+9A= (n.2248+9A=) | |
X | g.53984906G>A | CA2579619383 | PHF8 | c.2140+8C>T (n.2140+8C>T) c.2443+8C>T (n.2443+8C>T) c.*898+8C>T (n.*898+8C>T) c.*1885+8C>T (n.*1885+8C>T) n.1807+8C>T c.2392+8C>T (n.2392+8C>T) c.2551+8C>T (n.2551+8C>T) c.2154+8C>T c.1733+8C>T c.870+8C>T (n.870+8C>T) c.2248+8C>T (n.2248+8C>T) | |
X | g.53984906G>T | CA2693828036 | PHF8 | c.2140+8C>A (n.2140+8C>A) c.2443+8C>A (n.2443+8C>A) c.*898+8C>A (n.*898+8C>A) c.*1885+8C>A (n.*1885+8C>A) n.1807+8C>A c.2392+8C>A (n.2392+8C>A) c.2551+8C>A (n.2551+8C>A) c.2154+8C>A c.1733+8C>A c.870+8C>A (n.870+8C>A) c.2248+8C>A (n.2248+8C>A) | gnomAD v4 |
X | g.53984907C= | CA2430030645 | PHF8 | c.2140+7G= (n.2140+7G=) c.2443+7G= (n.2443+7G=) c.*898+7G= (n.*898+7G=) c.*1885+7G= (n.*1885+7G=) n.1807+7G= c.2392+7G= (n.2392+7G=) c.2551+7G= (n.2551+7G=) c.2154+7G= c.1733+7G= c.870+7G= (n.870+7G=) c.2248+7G= (n.2248+7G=) | |
X | g.53984907C>T | CA876330564 | PHF8 | c.2140+7G>A (n.2140+7G>A) c.2443+7G>A (n.2443+7G>A) c.*898+7G>A (n.*898+7G>A) c.*1885+7G>A (n.*1885+7G>A) n.1807+7G>A c.2392+7G>A (n.2392+7G>A) c.2551+7G>A (n.2551+7G>A) c.2154+7G>A c.1733+7G>A c.870+7G>A (n.870+7G>A) c.2248+7G>A (n.2248+7G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53984912A>C | CA413251377 | PHF8 | c.2140+2T>G (n.2140+2T>G) c.2443+2T>G (n.2443+2T>G) c.*898+2T>G (n.*898+2T>G) c.*1885+2T>G (n.*1885+2T>G) n.1807+2T>G c.2392+2T>G (n.2392+2T>G) c.2551+2T>G (n.2551+2T>G) c.2154+2T>G c.1733+2T>G c.870+2T>G (n.870+2T>G) c.2248+2T>G (n.2248+2T>G) | |
X | g.53984912A>G | CA413251379 | PHF8 | c.2140+2T>C (n.2140+2T>C) c.2443+2T>C (n.2443+2T>C) c.*898+2T>C (n.*898+2T>C) c.*1885+2T>C (n.*1885+2T>C) n.1807+2T>C c.2392+2T>C (n.2392+2T>C) c.2551+2T>C (n.2551+2T>C) c.2154+2T>C c.1733+2T>C c.870+2T>C (n.870+2T>C) c.2248+2T>C (n.2248+2T>C) | |
X | g.53984912A>T | CA413251382 | PHF8 | c.2140+2T>A (n.2140+2T>A) c.2443+2T>A (n.2443+2T>A) c.*898+2T>A (n.*898+2T>A) c.*1885+2T>A (n.*1885+2T>A) n.1807+2T>A c.2392+2T>A (n.2392+2T>A) c.2551+2T>A (n.2551+2T>A) c.2154+2T>A c.1733+2T>A c.870+2T>A (n.870+2T>A) c.2248+2T>A (n.2248+2T>A) | |
X | g.53984913C>A | CA413251385 | PHF8 | c.2140+1G>T (n.2140+1G>T) c.2443+1G>T (n.2443+1G>T) c.*898+1G>T (n.*898+1G>T) c.*1885+1G>T (n.*1885+1G>T) n.1807+1G>T c.2392+1G>T (n.2392+1G>T) c.2551+1G>T (n.2551+1G>T) c.2154+1G>T c.1733+1G>T c.870+1G>T (n.870+1G>T) c.2248+1G>T (n.2248+1G>T) | |
X | g.53984913C>G | CA413251387 | PHF8 | c.2140+1G>C (n.2140+1G>C) c.2443+1G>C (n.2443+1G>C) c.*898+1G>C (n.*898+1G>C) c.*1885+1G>C (n.*1885+1G>C) n.1807+1G>C c.2392+1G>C (n.2392+1G>C) c.2551+1G>C (n.2551+1G>C) c.2154+1G>C c.1733+1G>C c.870+1G>C (n.870+1G>C) c.2248+1G>C (n.2248+1G>C) | |
X | g.53984913C>T | CA413251390 | PHF8 | c.2140+1G>A (n.2140+1G>A) c.2443+1G>A (n.2443+1G>A) c.*898+1G>A (n.*898+1G>A) c.*1885+1G>A (n.*1885+1G>A) n.1807+1G>A c.2392+1G>A (n.2392+1G>A) c.2551+1G>A (n.2551+1G>A) c.2154+1G>A c.1733+1G>A c.870+1G>A (n.870+1G>A) c.2248+1G>A (n.2248+1G>A) | |
X | g.53984914T>A | CA413251397 | PHF8 | c.2140A>T (p.Ile714Phe) c.2443A>T (p.Ile815Phe) c.*898A>T (n.*898A>T) c.*1885A>T (n.*1885A>T) n.1807A>T c.2392A>T (p.Ile798Phe) c.2551A>T (p.Ile851Phe) c.2154A>T c.1733A>T c.870A>T (p.Ile290=) c.2248A>T (p.Ile750Phe) | |
X | g.53984914T>C | CA413251395 | PHF8 | c.2140A>G (p.Ile714Val) c.2443A>G (p.Ile815Val) c.*898A>G (n.*898A>G) c.*1885A>G (n.*1885A>G) n.1807A>G c.2392A>G (p.Ile798Val) c.2551A>G (p.Ile851Val) c.2154A>G c.1733A>G c.870A>G (p.Ile290Met) c.2248A>G (p.Ile750Val) | |
X | g.53984914T>G | CA413251393 | PHF8 | c.2140A>C (p.Ile714Leu) c.2443A>C (p.Ile815Leu) c.*898A>C (n.*898A>C) c.*1885A>C (n.*1885A>C) n.1807A>C c.2392A>C (p.Ile798Leu) c.2551A>C (p.Ile851Leu) c.2154A>C c.1733A>C c.870A>C (p.Ile290=) c.2248A>C (p.Ile750Leu) | |
X | g.53984916_53984917del | CA2579619384 | PHF8 | c.2139_2140del (p.Ile714LeufsTer7) c.2442_2443del (p.Ile815LeufsTer7) c.*897_*898del (n.*897_*898del) c.*1884_*1885del (n.*1884_*1885del) n.1806_1807del c.2391_2392del (p.Ile798LeufsTer7) c.2550_2551del (p.Ile851LeufsTer7) c.2153_2154del c.1732_1733del c.869_870del (p.Ser291TyrfsTer?) c.2247_2248del (p.Ile750LeufsTer7) | |
X | g.53984915A= | CA2430030646 | PHF8 | c.2139T= (p.Tyr713=) c.2442T= (p.Tyr814=) c.*897T= (n.*897T=) c.*1884T= (n.*1884T=) n.1806T= c.2391T= (p.Tyr797=) c.2550T= (p.Tyr850=) c.2153T= c.1732T= c.869T= (p.Ile290=) c.2247T= (p.Tyr749=) | |
X | g.53984915A>C | CA413251400 | PHF8 | c.2139T>G (p.Tyr713Ter) c.2442T>G (p.Tyr814Ter) c.*897T>G (n.*897T>G) c.*1884T>G (n.*1884T>G) n.1806T>G c.2391T>G (p.Tyr797Ter) c.2550T>G (p.Tyr850Ter) c.2153T>G c.1732T>G c.869T>G (p.Ile290Arg) c.2247T>G (p.Tyr749Ter) | |
X | g.53984915A>G | CA413251402 | PHF8 | c.2139T>C (p.Tyr713=) c.2442T>C (p.Tyr814=) c.*897T>C (n.*897T>C) c.*1884T>C (n.*1884T>C) n.1806T>C c.2391T>C (p.Tyr797=) c.2550T>C (p.Tyr850=) c.2153T>C c.1732T>C c.869T>C (p.Ile290Thr) c.2247T>C (p.Tyr749=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53984915A>T | CA413251405 | PHF8 | c.2139T>A (p.Tyr713Ter) c.2442T>A (p.Tyr814Ter) c.*897T>A (n.*897T>A) c.*1884T>A (n.*1884T>A) n.1806T>A c.2391T>A (p.Tyr797Ter) c.2550T>A (p.Tyr850Ter) c.2153T>A c.1732T>A c.869T>A (p.Ile290Lys) c.2247T>A (p.Tyr749Ter) | |
X | g.53984916T>A | CA413251408 | PHF8 | c.2138A>T (p.Tyr713Phe) c.2441A>T (p.Tyr814Phe) c.*896A>T (n.*896A>T) c.*1883A>T (n.*1883A>T) n.1805A>T c.2390A>T (p.Tyr797Phe) c.2549A>T (p.Tyr850Phe) c.2152A>T c.1731A>T c.868A>T (p.Ile290Leu) c.2246A>T (p.Tyr749Phe) | |
X | g.53984916T>C | CA413251411 | PHF8 | c.2138A>G (p.Tyr713Cys) c.2441A>G (p.Tyr814Cys) c.*896A>G (n.*896A>G) c.*1883A>G (n.*1883A>G) n.1805A>G c.2390A>G (p.Tyr797Cys) c.2549A>G (p.Tyr850Cys) c.2152A>G c.1731A>G c.868A>G (p.Ile290Val) c.2246A>G (p.Tyr749Cys) | |
X | g.53984916T>G | CA413251413 | PHF8 | c.2138A>C (p.Tyr713Ser) c.2441A>C (p.Tyr814Ser) c.*896A>C (n.*896A>C) c.*1883A>C (n.*1883A>C) n.1805A>C c.2390A>C (p.Tyr797Ser) c.2549A>C (p.Tyr850Ser) c.2152A>C c.1731A>C c.868A>C (p.Ile290Leu) c.2246A>C (p.Tyr749Ser) | |
X | g.53984917A>C | CA413251421 | PHF8 | c.2137T>G (p.Tyr713Asp) c.2440T>G (p.Tyr814Asp) c.*895T>G (n.*895T>G) c.*1882T>G (n.*1882T>G) n.1804T>G c.2389T>G (p.Tyr797Asp) c.2548T>G (p.Tyr850Asp) c.2151T>G c.1730T>G c.867T>G (p.Ser289Arg) c.2245T>G (p.Tyr749Asp) | |
X | g.53984917A>G | CA413251418 | PHF8 | c.2137T>C (p.Tyr713His) c.2440T>C (p.Tyr814His) c.*895T>C (n.*895T>C) c.*1882T>C (n.*1882T>C) n.1804T>C c.2389T>C (p.Tyr797His) c.2548T>C (p.Tyr850His) c.2151T>C c.1730T>C c.867T>C (p.Ser289=) c.2245T>C (p.Tyr749His) | |
X | g.53984917A>T | CA413251416 | PHF8 | c.2137T>A (p.Tyr713Asn) c.2440T>A (p.Tyr814Asn) c.*895T>A (n.*895T>A) c.*1882T>A (n.*1882T>A) n.1804T>A c.2389T>A (p.Tyr797Asn) c.2548T>A (p.Tyr850Asn) c.2151T>A c.1730T>A c.867T>A (p.Ser289Arg) c.2245T>A (p.Tyr749Asn) | |
X | g.53984918C>A | CA413251424 | PHF8 | c.2136G>T (p.Glu712Asp) c.2439G>T (p.Glu813Asp) c.*894G>T (n.*894G>T) c.*1881G>T (n.*1881G>T) n.1803G>T c.2388G>T (p.Glu796Asp) c.2547G>T (p.Glu849Asp) c.2150G>T c.1729G>T c.866G>T (p.Ser289Ile) c.2244G>T (p.Glu748Asp) | |
X | g.53984918C>G | CA413251426 | PHF8 | c.2136G>C (p.Glu712Asp) c.2439G>C (p.Glu813Asp) c.*894G>C (n.*894G>C) c.*1881G>C (n.*1881G>C) n.1803G>C c.2388G>C (p.Glu796Asp) c.2547G>C (p.Glu849Asp) c.2150G>C c.1729G>C c.866G>C (p.Ser289Thr) c.2244G>C (p.Glu748Asp) | |
X | g.53984918C>T | CA413251428 | PHF8 | c.2136G>A (p.Glu712=) c.2439G>A (p.Glu813=) c.*894G>A (n.*894G>A) c.*1881G>A (n.*1881G>A) n.1803G>A c.2388G>A (p.Glu796=) c.2547G>A (p.Glu849=) c.2150G>A c.1729G>A c.866G>A (p.Ser289Asn) c.2244G>A (p.Glu748=) | gnomAD v4 |
X | g.53984919T>A | CA413251431 | PHF8 | c.2135A>T (p.Glu712Val) c.2438A>T (p.Glu813Val) c.*893A>T (n.*893A>T) c.*1880A>T (n.*1880A>T) n.1802A>T c.2387A>T (p.Glu796Val) c.2546A>T (p.Glu849Val) c.2149A>T c.1728A>T c.865A>T (p.Ser289Cys) c.2243A>T (p.Glu748Val) | |
X | g.53984919T>C | CA413251433 | PHF8 | c.2135A>G (p.Glu712Gly) c.2438A>G (p.Glu813Gly) c.*893A>G (n.*893A>G) c.*1880A>G (n.*1880A>G) n.1802A>G c.2387A>G (p.Glu796Gly) c.2546A>G (p.Glu849Gly) c.2149A>G c.1728A>G c.865A>G (p.Ser289Gly) c.2243A>G (p.Glu748Gly) | |
X | g.53984919T>G | CA413251435 | PHF8 | c.2135A>C (p.Glu712Ala) c.2438A>C (p.Glu813Ala) c.*893A>C (n.*893A>C) c.*1880A>C (n.*1880A>C) n.1802A>C c.2387A>C (p.Glu796Ala) c.2546A>C (p.Glu849Ala) c.2149A>C c.1728A>C c.865A>C (p.Ser289Arg) c.2243A>C (p.Glu748Ala) | |
X | g.53984920C>A | CA413251438 | PHF8 | c.2134G>T (p.Glu712Ter) c.2437G>T (p.Glu813Ter) c.*892G>T (n.*892G>T) c.*1879G>T (n.*1879G>T) n.1801G>T c.2386G>T (p.Glu796Ter) c.2545G>T (p.Glu849Ter) c.2148G>T c.1727G>T c.864G>T (p.Gln288His) c.2242G>T (p.Glu748Ter) | |
X | g.53984920C>G | CA413251441 | PHF8 | c.2134G>C (p.Glu712Gln) c.2437G>C (p.Glu813Gln) c.*892G>C (n.*892G>C) c.*1879G>C (n.*1879G>C) n.1801G>C c.2386G>C (p.Glu796Gln) c.2545G>C (p.Glu849Gln) c.2148G>C c.1727G>C c.864G>C (p.Gln288His) c.2242G>C (p.Glu748Gln) | gnomAD v4 |
X | g.53984920C>T | CA413251439 | PHF8 | c.2134G>A (p.Glu712Lys) c.2437G>A (p.Glu813Lys) c.*892G>A (n.*892G>A) c.*1879G>A (n.*1879G>A) n.1801G>A c.2386G>A (p.Glu796Lys) c.2545G>A (p.Glu849Lys) c.2148G>A c.1727G>A c.864G>A (p.Gln288=) c.2242G>A (p.Glu748Lys) | |
X | g.53984921T>A | CA413251445 | PHF8 | c.2133A>T (p.Ala711=) c.2436A>T (p.Ala812=) c.*891A>T (n.*891A>T) c.*1878A>T (n.*1878A>T) n.1800A>T c.2385A>T (p.Ala795=) c.2544A>T (p.Ala848=) c.2147A>T c.1726A>T c.863A>T (p.Gln288Leu) c.2241A>T (p.Ala747=) | |
X | g.53984921T>C | CA413251446 | PHF8 | c.2133A>G (p.Ala711=) c.2436A>G (p.Ala812=) c.*891A>G (n.*891A>G) c.*1878A>G (n.*1878A>G) n.1800A>G c.2385A>G (p.Ala795=) c.2544A>G (p.Ala848=) c.2147A>G c.1726A>G c.863A>G (p.Gln288Arg) c.2241A>G (p.Ala747=) | |
X | g.53984921T>G | CA413251448 | PHF8 | c.2133A>C (p.Ala711=) c.2436A>C (p.Ala812=) c.*891A>C (n.*891A>C) c.*1878A>C (n.*1878A>C) n.1800A>C c.2385A>C (p.Ala795=) c.2544A>C (p.Ala848=) c.2147A>C c.1726A>C c.863A>C (p.Gln288Pro) c.2241A>C (p.Ala747=) | |
X | g.53984922G>A | CA413251452 | PHF8 | c.2132C>T (p.Ala711Val) c.2435C>T (p.Ala812Val) c.*890C>T (n.*890C>T) c.*1877C>T (n.*1877C>T) n.1799C>T c.2384C>T (p.Ala795Val) c.2543C>T (p.Ala848Val) c.2146C>T c.1725C>T c.862C>T (p.Gln288Ter) c.2240C>T (p.Ala747Val) | |
X | g.53984922G>C | CA413251454 | PHF8 | c.2132C>G (p.Ala711Gly) c.2435C>G (p.Ala812Gly) c.*890C>G (n.*890C>G) c.*1877C>G (n.*1877C>G) n.1799C>G c.2384C>G (p.Ala795Gly) c.2543C>G (p.Ala848Gly) c.2146C>G c.1725C>G c.862C>G (p.Gln288Glu) c.2240C>G (p.Ala747Gly) | |
X | g.53984922G>T | CA413251456 | PHF8 | c.2132C>A (p.Ala711Glu) c.2435C>A (p.Ala812Glu) c.*890C>A (n.*890C>A) c.*1877C>A (n.*1877C>A) n.1799C>A c.2384C>A (p.Ala795Glu) c.2543C>A (p.Ala848Glu) c.2146C>A c.1725C>A c.862C>A (p.Gln288Lys) c.2240C>A (p.Ala747Glu) | |
X | g.53984923C>A | CA413251459 | PHF8 | c.2131G>T (p.Ala711Ser) c.2434G>T (p.Ala812Ser) c.*889G>T (n.*889G>T) c.*1876G>T (n.*1876G>T) n.1798G>T c.2383G>T (p.Ala795Ser) c.2542G>T (p.Ala848Ser) c.2145G>T c.1724G>T c.861G>T (p.Met287Ile) c.2239G>T (p.Ala747Ser) | |
X | g.53984923C>G | CA413251462 | PHF8 | c.2131G>C (p.Ala711Pro) c.2434G>C (p.Ala812Pro) c.*889G>C (n.*889G>C) c.*1876G>C (n.*1876G>C) n.1798G>C c.2383G>C (p.Ala795Pro) c.2542G>C (p.Ala848Pro) c.2145G>C c.1724G>C c.861G>C (p.Met287Ile) c.2239G>C (p.Ala747Pro) | |
X | g.53984923C>T | CA413251464 | PHF8 | c.2131G>A (p.Ala711Thr) c.2434G>A (p.Ala812Thr) c.*889G>A (n.*889G>A) c.*1876G>A (n.*1876G>A) n.1798G>A c.2383G>A (p.Ala795Thr) c.2542G>A (p.Ala848Thr) c.2145G>A c.1724G>A c.861G>A (p.Met287Ile) c.2239G>A (p.Ala747Thr) | |
X | g.53984924A= | CA2430030647 | PHF8 | c.2130T= (p.Asp710=) c.2433T= (p.Asp811=) c.*888T= (n.*888T=) c.*1875T= (n.*1875T=) n.1797T= c.2382T= (p.Asp794=) c.2541T= (p.Asp847=) c.2144T= c.1723T= c.860T= (p.Met287=) c.2238T= (p.Asp746=) | |
X | g.53984924A>C | CA413251467 | PHF8 | c.2130T>G (p.Asp710Glu) c.2433T>G (p.Asp811Glu) c.*888T>G (n.*888T>G) c.*1875T>G (n.*1875T>G) n.1797T>G c.2382T>G (p.Asp794Glu) c.2541T>G (p.Asp847Glu) c.2144T>G c.1723T>G c.860T>G (p.Met287Arg) c.2238T>G (p.Asp746Glu) | |
X | g.53984924A>G | CA413251469 | PHF8 | c.2130T>C (p.Asp710=) c.2433T>C (p.Asp811=) c.*888T>C (n.*888T>C) c.*1875T>C (n.*1875T>C) n.1797T>C c.2382T>C (p.Asp794=) c.2541T>C (p.Asp847=) c.2144T>C c.1723T>C c.860T>C (p.Met287Thr) c.2238T>C (p.Asp746=) | dbSNP gnomAD v4 |
X | g.53984924A>T | CA413251471 | PHF8 | c.2130T>A (p.Asp710Glu) c.2433T>A (p.Asp811Glu) c.*888T>A (n.*888T>A) c.*1875T>A (n.*1875T>A) n.1797T>A c.2382T>A (p.Asp794Glu) c.2541T>A (p.Asp847Glu) c.2144T>A c.1723T>A c.860T>A (p.Met287Lys) c.2238T>A (p.Asp746Glu) | |
X | g.53984925T>A | CA413251474 | PHF8 | c.2129A>T (p.Asp710Val) c.2432A>T (p.Asp811Val) c.*887A>T (n.*887A>T) c.*1874A>T (n.*1874A>T) n.1796A>T c.2381A>T (p.Asp794Val) c.2540A>T (p.Asp847Val) c.2143A>T c.1722A>T c.859A>T (p.Met287Leu) c.2237A>T (p.Asp746Val) | |
X | g.53984925T>C | CA413251478 | PHF8 | c.2129A>G (p.Asp710Gly) c.2432A>G (p.Asp811Gly) c.*887A>G (n.*887A>G) c.*1874A>G (n.*1874A>G) n.1796A>G c.2381A>G (p.Asp794Gly) c.2540A>G (p.Asp847Gly) c.2143A>G c.1722A>G c.859A>G (p.Met287Val) c.2237A>G (p.Asp746Gly) | |
X | g.53984925T>G | CA413251476 | PHF8 | c.2129A>C (p.Asp710Ala) c.2432A>C (p.Asp811Ala) c.*887A>C (n.*887A>C) c.*1874A>C (n.*1874A>C) n.1796A>C c.2381A>C (p.Asp794Ala) c.2540A>C (p.Asp847Ala) c.2143A>C c.1722A>C c.859A>C (p.Met287Leu) c.2237A>C (p.Asp746Ala) | |
X | g.53984926C>A | CA413251481 | PHF8 | c.2128G>T (p.Asp710Tyr) c.2431G>T (p.Asp811Tyr) c.*886G>T (n.*886G>T) c.*1873G>T (n.*1873G>T) n.1795G>T c.2380G>T (p.Asp794Tyr) c.2539G>T (p.Asp847Tyr) c.2142G>T c.1721G>T c.858G>T (p.Arg286Ser) c.2236G>T (p.Asp746Tyr) | |
X | g.53984926C>G | CA413251483 | PHF8 | c.2128G>C (p.Asp710His) c.2431G>C (p.Asp811His) c.*886G>C (n.*886G>C) c.*1873G>C (n.*1873G>C) n.1795G>C c.2380G>C (p.Asp794His) c.2539G>C (p.Asp847His) c.2142G>C c.1721G>C c.858G>C (p.Arg286Ser) c.2236G>C (p.Asp746His) | |
X | g.53984926C>T | CA413251485 | PHF8 | c.2128G>A (p.Asp710Asn) c.2431G>A (p.Asp811Asn) c.*886G>A (n.*886G>A) c.*1873G>A (n.*1873G>A) n.1795G>A c.2380G>A (p.Asp794Asn) c.2539G>A (p.Asp847Asn) c.2142G>A c.1721G>A c.858G>A (p.Arg286=) c.2236G>A (p.Asp746Asn) | |
X | g.53984927C>A | CA413251488 | PHF8 | c.2127G>T (p.Lys709Asn) c.2430G>T (p.Lys810Asn) c.*885G>T (n.*885G>T) c.*1872G>T (n.*1872G>T) n.1794G>T c.2379G>T (p.Lys793Asn) c.2538G>T (p.Lys846Asn) c.2141G>T c.1720G>T c.857G>T (p.Arg286Met) c.2235G>T (p.Lys745Asn) | |
X | g.53984927C>G | CA413251490 | PHF8 | c.2127G>C (p.Lys709Asn) c.2430G>C (p.Lys810Asn) c.*885G>C (n.*885G>C) c.*1872G>C (n.*1872G>C) n.1794G>C c.2379G>C (p.Lys793Asn) c.2538G>C (p.Lys846Asn) c.2141G>C c.1720G>C c.857G>C (p.Arg286Thr) c.2235G>C (p.Lys745Asn) | |
X | g.53984927C>T | CA413251492 | PHF8 | c.2127G>A (p.Lys709=) c.2430G>A (p.Lys810=) c.*885G>A (n.*885G>A) c.*1872G>A (n.*1872G>A) n.1794G>A c.2379G>A (p.Lys793=) c.2538G>A (p.Lys846=) c.2141G>A c.1720G>A c.857G>A (p.Arg286Lys) c.2235G>A (p.Lys745=) | gnomAD v4 |
X | g.53984928T>A | CA413251494 | PHF8 | c.2126A>T (p.Lys709Met) c.2429A>T (p.Lys810Met) c.*884A>T (n.*884A>T) c.*1871A>T (n.*1871A>T) n.1793A>T c.2378A>T (p.Lys793Met) c.2537A>T (p.Lys846Met) c.2140A>T c.1719A>T c.856A>T (p.Arg286Trp) c.2234A>T (p.Lys745Met) | |
X | g.53984928T>C | CA413251495 | PHF8 | c.2126A>G (p.Lys709Arg) c.2429A>G (p.Lys810Arg) c.*884A>G (n.*884A>G) c.*1871A>G (n.*1871A>G) n.1793A>G c.2378A>G (p.Lys793Arg) c.2537A>G (p.Lys846Arg) c.2140A>G c.1719A>G c.856A>G (p.Arg286Gly) c.2234A>G (p.Lys745Arg) | |
X | g.53984928T>G | CA413251496 | PHF8 | c.2126A>C (p.Lys709Thr) c.2429A>C (p.Lys810Thr) c.*884A>C (n.*884A>C) c.*1871A>C (n.*1871A>C) n.1793A>C c.2378A>C (p.Lys793Thr) c.2537A>C (p.Lys846Thr) c.2140A>C c.1719A>C c.856A>C (p.Arg286=) c.2234A>C (p.Lys745Thr) | |
X | g.53984929T>A | CA413251497 | PHF8 | c.2125A>T (p.Lys709Ter) c.2428A>T (p.Lys810Ter) c.*883A>T (n.*883A>T) c.*1870A>T (n.*1870A>T) n.1792A>T c.2377A>T (p.Lys793Ter) c.2536A>T (p.Lys846Ter) c.2139A>T c.1718A>T c.855A>T (p.Ser285=) c.2233A>T (p.Lys745Ter) | |
X | g.53984929T>C | CA413251498 | PHF8 | c.2125A>G (p.Lys709Glu) c.2428A>G (p.Lys810Glu) c.*883A>G (n.*883A>G) c.*1870A>G (n.*1870A>G) n.1792A>G c.2377A>G (p.Lys793Glu) c.2536A>G (p.Lys846Glu) c.2139A>G c.1718A>G c.855A>G (p.Ser285=) c.2233A>G (p.Lys745Glu) | |
X | g.53984929T>G | CA413251499 | PHF8 | c.2125A>C (p.Lys709Gln) c.2428A>C (p.Lys810Gln) c.*883A>C (n.*883A>C) c.*1870A>C (n.*1870A>C) n.1792A>C c.2377A>C (p.Lys793Gln) c.2536A>C (p.Lys846Gln) c.2139A>C c.1718A>C c.855A>C (p.Ser285=) c.2233A>C (p.Lys745Gln) | |
X | g.53984930G>A | CA413251502 | PHF8 | c.2124C>T (p.Phe708=) c.2427C>T (p.Phe809=) c.*882C>T (n.*882C>T) c.*1869C>T (n.*1869C>T) n.1791C>T c.2376C>T (p.Phe792=) c.2535C>T (p.Phe845=) c.2138C>T c.1717C>T c.854C>T (p.Ser285Leu) c.2232C>T (p.Phe744=) | |
X | g.53984930G>C | CA413251500 | PHF8 | c.2124C>G (p.Phe708Leu) c.2427C>G (p.Phe809Leu) c.*882C>G (n.*882C>G) c.*1869C>G (n.*1869C>G) n.1791C>G c.2376C>G (p.Phe792Leu) c.2535C>G (p.Phe845Leu) c.2138C>G c.1717C>G c.854C>G (p.Ser285Ter) c.2232C>G (p.Phe744Leu) | |
X | g.53984930G>T | CA413251501 | PHF8 | c.2124C>A (p.Phe708Leu) c.2427C>A (p.Phe809Leu) c.*882C>A (n.*882C>A) c.*1869C>A (n.*1869C>A) n.1791C>A c.2376C>A (p.Phe792Leu) c.2535C>A (p.Phe845Leu) c.2138C>A c.1717C>A c.854C>A (p.Ser285Ter) c.2232C>A (p.Phe744Leu) | |
X | g.53984931A>C | CA413251503 | PHF8 | c.2123T>G (p.Phe708Cys) c.2426T>G (p.Phe809Cys) c.*881T>G (n.*881T>G) c.*1868T>G (n.*1868T>G) n.1790T>G c.2375T>G (p.Phe792Cys) c.2534T>G (p.Phe845Cys) c.2137T>G c.1716T>G c.853T>G (p.Ser285Ala) c.2231T>G (p.Phe744Cys) | |
X | g.53984931A>G | CA413251504 | PHF8 | c.2123T>C (p.Phe708Ser) c.2426T>C (p.Phe809Ser) c.*881T>C (n.*881T>C) c.*1868T>C (n.*1868T>C) n.1790T>C c.2375T>C (p.Phe792Ser) c.2534T>C (p.Phe845Ser) c.2137T>C c.1716T>C c.853T>C (p.Ser285Pro) c.2231T>C (p.Phe744Ser) | |
X | g.53984931A>T | CA413251505 | PHF8 | c.2123T>A (p.Phe708Tyr) c.2426T>A (p.Phe809Tyr) c.*881T>A (n.*881T>A) c.*1868T>A (n.*1868T>A) n.1790T>A c.2375T>A (p.Phe792Tyr) c.2534T>A (p.Phe845Tyr) c.2137T>A c.1716T>A c.853T>A (p.Ser285Thr) c.2231T>A (p.Phe744Tyr) | |
X | g.53984932A>C | CA413251506 | PHF8 | c.2122T>G (p.Phe708Val) c.2425T>G (p.Phe809Val) c.*880T>G (n.*880T>G) c.*1867T>G (n.*1867T>G) n.1789T>G c.2374T>G (p.Phe792Val) c.2533T>G (p.Phe845Val) c.2136T>G c.1715T>G c.852T>G (p.Ala284=) c.2230T>G (p.Phe744Val) | |
X | g.53984932A>G | CA413251507 | PHF8 | c.2122T>C (p.Phe708Leu) c.2425T>C (p.Phe809Leu) c.*880T>C (n.*880T>C) c.*1867T>C (n.*1867T>C) n.1789T>C c.2374T>C (p.Phe792Leu) c.2533T>C (p.Phe845Leu) c.2136T>C c.1715T>C c.852T>C (p.Ala284=) c.2230T>C (p.Phe744Leu) | |
X | g.53984932A>T | CA413251508 | PHF8 | c.2122T>A (p.Phe708Ile) c.2425T>A (p.Phe809Ile) c.*880T>A (n.*880T>A) c.*1867T>A (n.*1867T>A) n.1789T>A c.2374T>A (p.Phe792Ile) c.2533T>A (p.Phe845Ile) c.2136T>A c.1715T>A c.852T>A (p.Ala284=) c.2230T>A (p.Phe744Ile) | |
X | g.53984933G>A | CA413251509 | PHF8 | c.2121C>T (p.Cys707=) c.2424C>T (p.Cys808=) c.*879C>T (n.*879C>T) c.*1866C>T (n.*1866C>T) n.1788C>T c.2373C>T (p.Cys791=) c.2532C>T (p.Cys844=) c.2135C>T c.1714C>T c.851C>T (p.Ala284Val) c.2229C>T (p.Cys743=) | gnomAD v4 |
X | g.53984933G>C | CA413251510 | PHF8 | c.2121C>G (p.Cys707Trp) c.2424C>G (p.Cys808Trp) c.*879C>G (n.*879C>G) c.*1866C>G (n.*1866C>G) n.1788C>G c.2373C>G (p.Cys791Trp) c.2532C>G (p.Cys844Trp) c.2135C>G c.1714C>G c.851C>G (p.Ala284Gly) c.2229C>G (p.Cys743Trp) | |
X | g.53984933G>T | CA413251511 | PHF8 | c.2121C>A (p.Cys707Ter) c.2424C>A (p.Cys808Ter) c.*879C>A (n.*879C>A) c.*1866C>A (n.*1866C>A) n.1788C>A c.2373C>A (p.Cys791Ter) c.2532C>A (p.Cys844Ter) c.2135C>A c.1714C>A c.851C>A (p.Ala284Asp) c.2229C>A (p.Cys743Ter) | gnomAD v4 |
X | g.53984934C>A | CA413251512 | PHF8 | c.2120G>T (p.Cys707Phe) c.2423G>T (p.Cys808Phe) c.*878G>T (n.*878G>T) c.*1865G>T (n.*1865G>T) n.1787G>T c.2372G>T (p.Cys791Phe) c.2531G>T (p.Cys844Phe) c.2134G>T c.1713G>T c.850G>T (p.Ala284Ser) c.2228G>T (p.Cys743Phe) | |
X | g.53984934C>G | CA413251513 | PHF8 | c.2120G>C (p.Cys707Ser) c.2423G>C (p.Cys808Ser) c.*878G>C (n.*878G>C) c.*1865G>C (n.*1865G>C) n.1787G>C c.2372G>C (p.Cys791Ser) c.2531G>C (p.Cys844Ser) c.2134G>C c.1713G>C c.850G>C (p.Ala284Pro) c.2228G>C (p.Cys743Ser) | |
X | g.53984934C>T | CA413251514 | PHF8 | c.2120G>A (p.Cys707Tyr) c.2423G>A (p.Cys808Tyr) c.*878G>A (n.*878G>A) c.*1865G>A (n.*1865G>A) n.1787G>A c.2372G>A (p.Cys791Tyr) c.2531G>A (p.Cys844Tyr) c.2134G>A c.1713G>A c.850G>A (p.Ala284Thr) c.2228G>A (p.Cys743Tyr) | |
X | g.53984935A>C | CA413251518 | PHF8 | c.2119T>G (p.Cys707Gly) c.2422T>G (p.Cys808Gly) c.*877T>G (n.*877T>G) c.*1864T>G (n.*1864T>G) n.1786T>G c.2371T>G (p.Cys791Gly) c.2530T>G (p.Cys844Gly) c.2133T>G c.1712T>G c.849T>G (p.Arg283=) c.2227T>G (p.Cys743Gly) | |
X | g.53984935A>G | CA413251519 | PHF8 | c.2119T>C (p.Cys707Arg) c.2422T>C (p.Cys808Arg) c.*877T>C (n.*877T>C) c.*1864T>C (n.*1864T>C) n.1786T>C c.2371T>C (p.Cys791Arg) c.2530T>C (p.Cys844Arg) c.2133T>C c.1712T>C c.849T>C (p.Arg283=) c.2227T>C (p.Cys743Arg) | |
X | g.53984935A>T | CA413251516 | PHF8 | c.2119T>A (p.Cys707Ser) c.2422T>A (p.Cys808Ser) c.*877T>A (n.*877T>A) c.*1864T>A (n.*1864T>A) n.1786T>A c.2371T>A (p.Cys791Ser) c.2530T>A (p.Cys844Ser) c.2133T>A c.1712T>A c.849T>A (p.Arg283=) c.2227T>A (p.Cys743Ser) | |
X | g.53984936C>A | CA413251521 | PHF8 | c.2118G>T (p.Ala706=) c.2421G>T (p.Ala807=) c.*876G>T (n.*876G>T) c.*1863G>T (n.*1863G>T) n.1785G>T c.2370G>T (p.Ala790=) c.2529G>T (p.Ala843=) c.2132G>T c.1711G>T c.848G>T (p.Arg283Leu) c.2226G>T (p.Ala742=) | |
X | g.53984936C= | CA2430030648 | PHF8 | c.2118G= (p.Ala706=) c.2421G= (p.Ala807=) c.*876G= (n.*876G=) c.*1863G= (n.*1863G=) n.1785G= c.2370G= (p.Ala790=) c.2529G= (p.Ala843=) c.2132G= c.1711G= c.848G= (p.Arg283=) c.2226G= (p.Ala742=) | |
X | g.53984936C>G | CA413251520 | PHF8 | c.2118G>C (p.Ala706=) c.2421G>C (p.Ala807=) c.*876G>C (n.*876G>C) c.*1863G>C (n.*1863G>C) n.1785G>C c.2370G>C (p.Ala790=) c.2529G>C (p.Ala843=) c.2132G>C c.1711G>C c.848G>C (p.Arg283Pro) c.2226G>C (p.Ala742=) | |
X | g.53984936C>T | CA413251522 | PHF8 | c.2118G>A (p.Ala706=) c.2421G>A (p.Ala807=) c.*876G>A (n.*876G>A) c.*1863G>A (n.*1863G>A) n.1785G>A c.2370G>A (p.Ala790=) c.2529G>A (p.Ala843=) c.2132G>A c.1711G>A c.848G>A (p.Arg283His) c.2226G>A (p.Ala742=) | dbSNP gnomAD v4 |
X | g.53984937G>A | CA413251523 | PHF8 | c.2117C>T (p.Ala706Val) c.2420C>T (p.Ala807Val) c.*875C>T (n.*875C>T) c.*1862C>T (n.*1862C>T) n.1784C>T c.2369C>T (p.Ala790Val) c.2528C>T (p.Ala843Val) c.2131C>T c.1710C>T c.847C>T (p.Arg283Cys) c.2225C>T (p.Ala742Val) | gnomAD v4 |
X | g.53984937G>C | CA413251525 | PHF8 | c.2117C>G (p.Ala706Gly) c.2420C>G (p.Ala807Gly) c.*875C>G (n.*875C>G) c.*1862C>G (n.*1862C>G) n.1784C>G c.2369C>G (p.Ala790Gly) c.2528C>G (p.Ala843Gly) c.2131C>G c.1710C>G c.847C>G (p.Arg283Gly) c.2225C>G (p.Ala742Gly) | |
X | g.53984937G>T | CA413251524 | PHF8 | c.2117C>A (p.Ala706Glu) c.2420C>A (p.Ala807Glu) c.*875C>A (n.*875C>A) c.*1862C>A (n.*1862C>A) n.1784C>A c.2369C>A (p.Ala790Glu) c.2528C>A (p.Ala843Glu) c.2131C>A c.1710C>A c.847C>A (p.Arg283Ser) c.2225C>A (p.Ala742Glu) | |
X | g.53984938C>A | CA413251526 | PHF8 | c.2116G>T (p.Ala706Ser) c.2419G>T (p.Ala807Ser) c.*874G>T (n.*874G>T) c.*1861G>T (n.*1861G>T) n.1783G>T c.2368G>T (p.Ala790Ser) c.2527G>T (p.Ala843Ser) c.2130G>T c.1709G>T c.846G>T (p.Glu282Asp) c.2224G>T (p.Ala742Ser) | |
X | g.53984938C>G | CA413251527 | PHF8 | c.2116G>C (p.Ala706Pro) c.2419G>C (p.Ala807Pro) c.*874G>C (n.*874G>C) c.*1861G>C (n.*1861G>C) n.1783G>C c.2368G>C (p.Ala790Pro) c.2527G>C (p.Ala843Pro) c.2130G>C c.1709G>C c.846G>C (p.Glu282Asp) c.2224G>C (p.Ala742Pro) | |
X | g.53984938C>T | CA413251528 | PHF8 | c.2116G>A (p.Ala706Thr) c.2419G>A (p.Ala807Thr) c.*874G>A (n.*874G>A) c.*1861G>A (n.*1861G>A) n.1783G>A c.2368G>A (p.Ala790Thr) c.2527G>A (p.Ala843Thr) c.2130G>A c.1709G>A c.846G>A (p.Glu282=) c.2224G>A (p.Ala742Thr) | |
X | g.53984939T>A | CA413251529 | PHF8 | c.2115A>T (p.Gly705=) c.2418A>T (p.Gly806=) c.*873A>T (n.*873A>T) c.*1860A>T (n.*1860A>T) n.1782A>T c.2367A>T (p.Gly789=) c.2526A>T (p.Gly842=) c.2129A>T c.1708A>T c.845A>T (p.Glu282Val) c.2223A>T (p.Gly741=) | |
X | g.53984939T>C | CA413251531 | PHF8 | c.2115A>G (p.Gly705=) c.2418A>G (p.Gly806=) c.*873A>G (n.*873A>G) c.*1860A>G (n.*1860A>G) n.1782A>G c.2367A>G (p.Gly789=) c.2526A>G (p.Gly842=) c.2129A>G c.1708A>G c.845A>G (p.Glu282Gly) c.2223A>G (p.Gly741=) | |
X | g.53984939T>G | CA413251534 | PHF8 | c.2115A>C (p.Gly705=) c.2418A>C (p.Gly806=) c.*873A>C (n.*873A>C) c.*1860A>C (n.*1860A>C) n.1782A>C c.2367A>C (p.Gly789=) c.2526A>C (p.Gly842=) c.2129A>C c.1708A>C c.845A>C (p.Glu282Ala) c.2223A>C (p.Gly741=) | |
X | g.53984940C>A | CA413251539 | PHF8 | c.2114G>T (p.Gly705Val) c.2417G>T (p.Gly806Val) c.*872G>T (n.*872G>T) c.*1859G>T (n.*1859G>T) n.1781G>T c.2366G>T (p.Gly789Val) c.2525G>T (p.Gly842Val) c.2128G>T c.1707G>T c.844G>T (p.Glu282Ter) c.2222G>T (p.Gly741Val) | |
X | g.53984940C>G | CA413251541 | PHF8 | c.2114G>C (p.Gly705Ala) c.2417G>C (p.Gly806Ala) c.*872G>C (n.*872G>C) c.*1859G>C (n.*1859G>C) n.1781G>C c.2366G>C (p.Gly789Ala) c.2525G>C (p.Gly842Ala) c.2128G>C c.1707G>C c.844G>C (p.Glu282Gln) c.2222G>C (p.Gly741Ala) | |
X | g.53984940C>T | CA413251542 | PHF8 | c.2114G>A (p.Gly705Glu) c.2417G>A (p.Gly806Glu) c.*872G>A (n.*872G>A) c.*1859G>A (n.*1859G>A) n.1781G>A c.2366G>A (p.Gly789Glu) c.2525G>A (p.Gly842Glu) c.2128G>A c.1707G>A c.844G>A (p.Glu282Lys) c.2222G>A (p.Gly741Glu) | |
X | g.53984941C>A | CA413251544 | PHF8 | c.2113G>T (p.Gly705Ter) c.2416G>T (p.Gly806Ter) c.*871G>T (n.*871G>T) c.*1858G>T (n.*1858G>T) n.1780G>T c.2365G>T (p.Gly789Ter) c.2524G>T (p.Gly842Ter) c.2127G>T c.1706G>T c.843G>T (p.Trp281Cys) c.2221G>T (p.Gly741Ter) | |
X | g.53984941C>G | CA413251547 | PHF8 | c.2113G>C (p.Gly705Arg) c.2416G>C (p.Gly806Arg) c.*871G>C (n.*871G>C) c.*1858G>C (n.*1858G>C) n.1780G>C c.2365G>C (p.Gly789Arg) c.2524G>C (p.Gly842Arg) c.2127G>C c.1706G>C c.843G>C (p.Trp281Cys) c.2221G>C (p.Gly741Arg) | |
X | g.53984941C>T | CA413251549 | PHF8 | c.2113G>A (p.Gly705Arg) c.2416G>A (p.Gly806Arg) c.*871G>A (n.*871G>A) c.*1858G>A (n.*1858G>A) n.1780G>A c.2365G>A (p.Gly789Arg) c.2524G>A (p.Gly842Arg) c.2127G>A c.1706G>A c.843G>A (p.Trp281Ter) c.2221G>A (p.Gly741Arg) | |
X | g.53984942C>A | CA413251556 | PHF8 | c.2112G>T (p.Leu704Phe) c.2415G>T (p.Leu805Phe) c.*870G>T (n.*870G>T) c.*1857G>T (n.*1857G>T) n.1779G>T c.2364G>T (p.Leu788Phe) c.2523G>T (p.Leu841Phe) c.2126G>T c.1705G>T c.842G>T (p.Trp281Leu) c.2220G>T (p.Leu740Phe) | |
X | g.53984942C>G | CA413251552 | PHF8 | c.2112G>C (p.Leu704Phe) c.2415G>C (p.Leu805Phe) c.*870G>C (n.*870G>C) c.*1857G>C (n.*1857G>C) n.1779G>C c.2364G>C (p.Leu788Phe) c.2523G>C (p.Leu841Phe) c.2126G>C c.1705G>C c.842G>C (p.Trp281Ser) c.2220G>C (p.Leu740Phe) | |
X | g.53984942C>T | CA413251554 | PHF8 | c.2112G>A (p.Leu704=) c.2415G>A (p.Leu805=) c.*870G>A (n.*870G>A) c.*1857G>A (n.*1857G>A) n.1779G>A c.2364G>A (p.Leu788=) c.2523G>A (p.Leu841=) c.2126G>A c.1705G>A c.842G>A (p.Trp281Ter) c.2220G>A (p.Leu740=) | |
X | g.53984943A>C | CA413251558 | PHF8 | c.2111T>G (p.Leu704Trp) c.2414T>G (p.Leu805Trp) c.*869T>G (n.*869T>G) c.*1856T>G (n.*1856T>G) n.1778T>G c.2363T>G (p.Leu788Trp) c.2522T>G (p.Leu841Trp) c.2125T>G c.1704T>G c.841T>G (p.Trp281Gly) c.2219T>G (p.Leu740Trp) | |
X | g.53984943A>G | CA413251560 | PHF8 | c.2111T>C (p.Leu704Ser) c.2414T>C (p.Leu805Ser) c.*869T>C (n.*869T>C) c.*1856T>C (n.*1856T>C) n.1778T>C c.2363T>C (p.Leu788Ser) c.2522T>C (p.Leu841Ser) c.2125T>C c.1704T>C c.841T>C (p.Trp281Arg) c.2219T>C (p.Leu740Ser) | |
X | g.53984943A>T | CA413251563 | PHF8 | c.2111T>A (p.Leu704Ter) c.2414T>A (p.Leu805Ter) c.*869T>A (n.*869T>A) c.*1856T>A (n.*1856T>A) n.1778T>A c.2363T>A (p.Leu788Ter) c.2522T>A (p.Leu841Ter) c.2125T>A c.1704T>A c.841T>A (p.Trp281Arg) c.2219T>A (p.Leu740Ter) | |
X | g.53984944A>C | CA413251566 | PHF8 | c.2110T>G (p.Leu704Val) c.2413T>G (p.Leu805Val) c.*868T>G (n.*868T>G) c.*1855T>G (n.*1855T>G) n.1777T>G c.2362T>G (p.Leu788Val) c.2521T>G (p.Leu841Val) c.2124T>G c.1703T>G c.840T>G (p.Ala280=) c.2218T>G (p.Leu740Val) | |
X | g.53984944A>G | CA516688677 | PHF8 | c.2110T>C (p.Leu704=) c.2413T>C (p.Leu805=) c.*868T>C (n.*868T>C) c.*1855T>C (n.*1855T>C) n.1777T>C c.2362T>C (p.Leu788=) c.2521T>C (p.Leu841=) c.2124T>C c.1703T>C c.840T>C (p.Ala280=) c.2218T>C (p.Leu740=) | |
X | g.53984944A>T | CA413251568 | PHF8 | c.2110T>A (p.Leu704Met) c.2413T>A (p.Leu805Met) c.*868T>A (n.*868T>A) c.*1855T>A (n.*1855T>A) n.1777T>A c.2362T>A (p.Leu788Met) c.2521T>A (p.Leu841Met) c.2124T>A c.1703T>A c.840T>A (p.Ala280=) c.2218T>A (p.Leu740Met) | |
X | g.53984945G>A | CA413251572 | PHF8 | c.2109C>T (p.Ser703=) c.2412C>T (p.Ser804=) c.*867C>T (n.*867C>T) c.*1854C>T (n.*1854C>T) n.1776C>T c.2361C>T (p.Ser787=) c.2520C>T (p.Ser840=) c.2123C>T c.1702C>T c.839C>T (p.Ala280Val) c.2217C>T (p.Ser739=) | |
X | g.53984945G>C | CA413251574 | PHF8 | c.2109C>G (p.Ser703Arg) c.2412C>G (p.Ser804Arg) c.*867C>G (n.*867C>G) c.*1854C>G (n.*1854C>G) n.1776C>G c.2361C>G (p.Ser787Arg) c.2520C>G (p.Ser840Arg) c.2123C>G c.1702C>G c.839C>G (p.Ala280Gly) c.2217C>G (p.Ser739Arg) | |
X | g.53984945G>T | CA413251576 | PHF8 | c.2109C>A (p.Ser703Arg) c.2412C>A (p.Ser804Arg) c.*867C>A (n.*867C>A) c.*1854C>A (n.*1854C>A) n.1776C>A c.2361C>A (p.Ser787Arg) c.2520C>A (p.Ser840Arg) c.2123C>A c.1702C>A c.839C>A (p.Ala280Asp) c.2217C>A (p.Ser739Arg) | |
X | g.53984946C>A | CA413251580 | PHF8 | c.2108G>T (p.Ser703Ile) c.2411G>T (p.Ser804Ile) c.*866G>T (n.*866G>T) c.*1853G>T (n.*1853G>T) n.1775G>T c.2360G>T (p.Ser787Ile) c.2519G>T (p.Ser840Ile) c.2122G>T c.1701G>T c.838G>T (p.Ala280Ser) c.2216G>T (p.Ser739Ile) | |
X | g.53984946C>G | CA413251582 | PHF8 | c.2108G>C (p.Ser703Thr) c.2411G>C (p.Ser804Thr) c.*866G>C (n.*866G>C) c.*1853G>C (n.*1853G>C) n.1775G>C c.2360G>C (p.Ser787Thr) c.2519G>C (p.Ser840Thr) c.2122G>C c.1701G>C c.838G>C (p.Ala280Pro) c.2216G>C (p.Ser739Thr) | |
X | g.53984946C>T | CA413251585 | PHF8 | c.2108G>A (p.Ser703Asn) c.2411G>A (p.Ser804Asn) c.*866G>A (n.*866G>A) c.*1853G>A (n.*1853G>A) n.1775G>A c.2360G>A (p.Ser787Asn) c.2519G>A (p.Ser840Asn) c.2122G>A c.1701G>A c.838G>A (p.Ala280Thr) c.2216G>A (p.Ser739Asn) | |
X | g.53984947T>A | CA413251594 | PHF8 | c.2107A>T (p.Ser703Cys) c.2410A>T (p.Ser804Cys) c.*865A>T (n.*865A>T) c.*1852A>T (n.*1852A>T) n.1774A>T c.2359A>T (p.Ser787Cys) c.2518A>T (p.Ser840Cys) c.2121A>T c.1700A>T c.837A>T (p.Thr279=) c.2215A>T (p.Ser739Cys) | |
X | g.53984947T>C | CA413251591 | PHF8 | c.2107A>G (p.Ser703Gly) c.2410A>G (p.Ser804Gly) c.*865A>G (n.*865A>G) c.*1852A>G (n.*1852A>G) n.1774A>G c.2359A>G (p.Ser787Gly) c.2518A>G (p.Ser840Gly) c.2121A>G c.1700A>G c.837A>G (p.Thr279=) c.2215A>G (p.Ser739Gly) | gnomAD v4 |
X | g.53984947T>G | CA413251588 | PHF8 | c.2107A>C (p.Ser703Arg) c.2410A>C (p.Ser804Arg) c.*865A>C (n.*865A>C) c.*1852A>C (n.*1852A>C) n.1774A>C c.2359A>C (p.Ser787Arg) c.2518A>C (p.Ser840Arg) c.2121A>C c.1700A>C c.837A>C (p.Thr279=) c.2215A>C (p.Ser739Arg) | |
X | g.53984948G>A | CA413251596 | PHF8 | c.2106C>T (p.Asp702=) c.2409C>T (p.Asp803=) c.*864C>T (n.*864C>T) c.*1851C>T (n.*1851C>T) n.1773C>T c.2358C>T (p.Asp786=) c.2517C>T (p.Asp839=) c.2120C>T c.1699C>T c.836C>T (p.Thr279Ile) c.2214C>T (p.Asp738=) | |
X | g.53984948G>C | CA413251599 | PHF8 | c.2106C>G (p.Asp702Glu) c.2409C>G (p.Asp803Glu) c.*864C>G (n.*864C>G) c.*1851C>G (n.*1851C>G) n.1773C>G c.2358C>G (p.Asp786Glu) c.2517C>G (p.Asp839Glu) c.2120C>G c.1699C>G c.836C>G (p.Thr279Arg) c.2214C>G (p.Asp738Glu) | |
X | g.53984948G>T | CA413251601 | PHF8 | c.2106C>A (p.Asp702Glu) c.2409C>A (p.Asp803Glu) c.*864C>A (n.*864C>A) c.*1851C>A (n.*1851C>A) n.1773C>A c.2358C>A (p.Asp786Glu) c.2517C>A (p.Asp839Glu) c.2120C>A c.1699C>A c.836C>A (p.Thr279Lys) c.2214C>A (p.Asp738Glu) | |
X | g.53984949T>A | CA413251603 | PHF8 | c.2105A>T (p.Asp702Val) c.2408A>T (p.Asp803Val) c.*863A>T (n.*863A>T) c.*1850A>T (n.*1850A>T) n.1772A>T c.2357A>T (p.Asp786Val) c.2516A>T (p.Asp839Val) c.2119A>T c.1698A>T c.835A>T (p.Thr279Ser) c.2213A>T (p.Asp738Val) | |
X | g.53984949T>C | CA413251605 | PHF8 | c.2105A>G (p.Asp702Gly) c.2408A>G (p.Asp803Gly) c.*863A>G (n.*863A>G) c.*1850A>G (n.*1850A>G) n.1772A>G c.2357A>G (p.Asp786Gly) c.2516A>G (p.Asp839Gly) c.2119A>G c.1698A>G c.835A>G (p.Thr279Ala) c.2213A>G (p.Asp738Gly) | |
X | g.53984949T>G | CA413251608 | PHF8 | c.2105A>C (p.Asp702Ala) c.2408A>C (p.Asp803Ala) c.*863A>C (n.*863A>C) c.*1850A>C (n.*1850A>C) n.1772A>C c.2357A>C (p.Asp786Ala) c.2516A>C (p.Asp839Ala) c.2119A>C c.1698A>C c.835A>C (p.Thr279Pro) c.2213A>C (p.Asp738Ala) | |
X | g.53984950C>A | CA413251610 | PHF8 | c.2104G>T (p.Asp702Tyr) c.2407G>T (p.Asp803Tyr) c.*862G>T (n.*862G>T) c.*1849G>T (n.*1849G>T) n.1771G>T c.2356G>T (p.Asp786Tyr) c.2515G>T (p.Asp839Tyr) c.2118G>T c.1697G>T c.834G>T (p.Arg278Ser) c.2212G>T (p.Asp738Tyr) | |
X | g.53984950C>G | CA413251612 | PHF8 | c.2104G>C (p.Asp702His) c.2407G>C (p.Asp803His) c.*862G>C (n.*862G>C) c.*1849G>C (n.*1849G>C) n.1771G>C c.2356G>C (p.Asp786His) c.2515G>C (p.Asp839His) c.2118G>C c.1697G>C c.834G>C (p.Arg278Ser) c.2212G>C (p.Asp738His) | |
X | g.53984950C>T | CA413251615 | PHF8 | c.2104G>A (p.Asp702Asn) c.2407G>A (p.Asp803Asn) c.*862G>A (n.*862G>A) c.*1849G>A (n.*1849G>A) n.1771G>A c.2356G>A (p.Asp786Asn) c.2515G>A (p.Asp839Asn) c.2118G>A c.1697G>A c.834G>A (p.Arg278=) c.2212G>A (p.Asp738Asn) | COSMIC COSMIC COSMIC COSMIC |
X | g.53984951C>A | CA413251619 | PHF8 | c.2103G>T (p.Gln701His) c.2406G>T (p.Gln802His) c.*861G>T (n.*861G>T) c.*1848G>T (n.*1848G>T) n.1770G>T c.2355G>T (p.Gln785His) c.2514G>T (p.Gln838His) c.2117G>T c.1696G>T c.833G>T (p.Arg278Met) c.2211G>T (p.Gln737His) | |
X | g.53984951C= | CA2430030649 | PHF8 | c.2103G= (p.Gln701=) c.2406G= (p.Gln802=) c.*861G= (n.*861G=) c.*1848G= (n.*1848G=) n.1770G= c.2355G= (p.Gln785=) c.2514G= (p.Gln838=) c.2117G= c.1696G= c.833G= (p.Arg278=) c.2211G= (p.Gln737=) | |
X | g.53984951C>G | CA413251621 | PHF8 | c.2103G>C (p.Gln701His) c.2406G>C (p.Gln802His) c.*861G>C (n.*861G>C) c.*1848G>C (n.*1848G>C) n.1770G>C c.2355G>C (p.Gln785His) c.2514G>C (p.Gln838His) c.2117G>C c.1696G>C c.833G>C (p.Arg278Thr) c.2211G>C (p.Gln737His) | |
X | g.53984951C>T | CA413251622 | PHF8 | c.2103G>A (p.Gln701=) c.2406G>A (p.Gln802=) c.*861G>A (n.*861G>A) c.*1848G>A (n.*1848G>A) n.1770G>A c.2355G>A (p.Gln785=) c.2514G>A (p.Gln838=) c.2117G>A c.1696G>A c.833G>A (p.Arg278Lys) c.2211G>A (p.Gln737=) | dbSNP |
X | g.53984952T>A | CA413251631 | PHF8 | c.2102A>T (p.Gln701Leu) c.2405A>T (p.Gln802Leu) c.*860A>T (n.*860A>T) c.*1847A>T (n.*1847A>T) n.1769A>T c.2354A>T (p.Gln785Leu) c.2513A>T (p.Gln838Leu) c.2116A>T c.1695A>T c.832A>T (p.Arg278Trp) c.2210A>T (p.Gln737Leu) | |
X | g.53984952T>C | CA413251629 | PHF8 | c.2102A>G (p.Gln701Arg) c.2405A>G (p.Gln802Arg) c.*860A>G (n.*860A>G) c.*1847A>G (n.*1847A>G) n.1769A>G c.2354A>G (p.Gln785Arg) c.2513A>G (p.Gln838Arg) c.2116A>G c.1695A>G c.832A>G (p.Arg278Gly) c.2210A>G (p.Gln737Arg) | |
X | g.53984952T>G | CA413251626 | PHF8 | c.2102A>C (p.Gln701Pro) c.2405A>C (p.Gln802Pro) c.*860A>C (n.*860A>C) c.*1847A>C (n.*1847A>C) n.1769A>C c.2354A>C (p.Gln785Pro) c.2513A>C (p.Gln838Pro) c.2116A>C c.1695A>C c.832A>C (p.Arg278=) c.2210A>C (p.Gln737Pro) | ClinVar dbSNP |
X | g.53984952T= | CA2430030650 | PHF8 | c.2102A= (p.Gln701=) c.2405A= (p.Gln802=) c.*860A= (n.*860A=) c.*1847A= (n.*1847A=) n.1769A= c.2354A= (p.Gln785=) c.2513A= (p.Gln838=) c.2116A= c.1695A= c.832A= (p.Arg278=) c.2210A= (p.Gln737=) | |
X | g.53984953G>A | CA413251633 | PHF8 | c.2101C>T (p.Gln701Ter) c.2404C>T (p.Gln802Ter) c.*859C>T (n.*859C>T) c.*1846C>T (n.*1846C>T) n.1768C>T c.2353C>T (p.Gln785Ter) c.2512C>T (p.Gln838Ter) c.2115C>T c.1694C>T c.831C>T (p.Asn277=) c.2209C>T (p.Gln737Ter) | |
X | g.53984953G>C | CA413251634 | PHF8 | c.2101C>G (p.Gln701Glu) c.2404C>G (p.Gln802Glu) c.*859C>G (n.*859C>G) c.*1846C>G (n.*1846C>G) n.1768C>G c.2353C>G (p.Gln785Glu) c.2512C>G (p.Gln838Glu) c.2115C>G c.1694C>G c.831C>G (p.Asn277Lys) c.2209C>G (p.Gln737Glu) | |
X | g.53984953G>T | CA413251635 | PHF8 | c.2101C>A (p.Gln701Lys) c.2404C>A (p.Gln802Lys) c.*859C>A (n.*859C>A) c.*1846C>A (n.*1846C>A) n.1768C>A c.2353C>A (p.Gln785Lys) c.2512C>A (p.Gln838Lys) c.2115C>A c.1694C>A c.831C>A (p.Asn277Lys) c.2209C>A (p.Gln737Lys) | |
X | g.53984954T>A | CA413251638 | PHF8 | c.2100A>T (p.Glu700Asp) c.2403A>T (p.Glu801Asp) c.*858A>T (n.*858A>T) c.*1845A>T (n.*1845A>T) n.1767A>T c.2352A>T (p.Glu784Asp) c.2511A>T (p.Glu837Asp) c.2114A>T c.1693A>T c.830A>T (p.Asn277Ile) c.2208A>T (p.Glu736Asp) | |
X | g.53984954T>C | CA413251640 | PHF8 | c.2100A>G (p.Glu700=) c.2403A>G (p.Glu801=) c.*858A>G (n.*858A>G) c.*1845A>G (n.*1845A>G) n.1767A>G c.2352A>G (p.Glu784=) c.2511A>G (p.Glu837=) c.2114A>G c.1693A>G c.830A>G (p.Asn277Ser) c.2208A>G (p.Glu736=) | |
X | g.53984954T>G | CA413251641 | PHF8 | c.2100A>C (p.Glu700Asp) c.2403A>C (p.Glu801Asp) c.*858A>C (n.*858A>C) c.*1845A>C (n.*1845A>C) n.1767A>C c.2352A>C (p.Glu784Asp) c.2511A>C (p.Glu837Asp) c.2114A>C c.1693A>C c.830A>C (p.Asn277Thr) c.2208A>C (p.Glu736Asp) | |
X | g.53984955T>A | CA413251645 | PHF8 | c.2099A>T (p.Glu700Val) c.2402A>T (p.Glu801Val) c.*857A>T (n.*857A>T) c.*1844A>T (n.*1844A>T) n.1766A>T c.2351A>T (p.Glu784Val) c.2510A>T (p.Glu837Val) c.2113A>T c.1692A>T c.829A>T (p.Asn277Tyr) c.2207A>T (p.Glu736Val) | |
X | g.53984955T>C | CA413251648 | PHF8 | c.2099A>G (p.Glu700Gly) c.2402A>G (p.Glu801Gly) c.*857A>G (n.*857A>G) c.*1844A>G (n.*1844A>G) n.1766A>G c.2351A>G (p.Glu784Gly) c.2510A>G (p.Glu837Gly) c.2113A>G c.1692A>G c.829A>G (p.Asn277Asp) c.2207A>G (p.Glu736Gly) | |
X | g.53984955T>G | CA413251650 | PHF8 | c.2099A>C (p.Glu700Ala) c.2402A>C (p.Glu801Ala) c.*857A>C (n.*857A>C) c.*1844A>C (n.*1844A>C) n.1766A>C c.2351A>C (p.Glu784Ala) c.2510A>C (p.Glu837Ala) c.2113A>C c.1692A>C c.829A>C (p.Asn277His) c.2207A>C (p.Glu736Ala) | |
X | g.53984956C>A | CA413251653 | PHF8 | c.2098G>T (p.Glu700Ter) c.2401G>T (p.Glu801Ter) c.*856G>T (n.*856G>T) c.*1843G>T (n.*1843G>T) n.1765G>T c.2350G>T (p.Glu784Ter) c.2509G>T (p.Glu837Ter) c.2112G>T c.1691G>T c.828G>T (p.Met276Ile) c.2206G>T (p.Glu736Ter) | |
X | g.53984956C>G | CA413251655 | PHF8 | c.2098G>C (p.Glu700Gln) c.2401G>C (p.Glu801Gln) c.*856G>C (n.*856G>C) c.*1843G>C (n.*1843G>C) n.1765G>C c.2350G>C (p.Glu784Gln) c.2509G>C (p.Glu837Gln) c.2112G>C c.1691G>C c.828G>C (p.Met276Ile) c.2206G>C (p.Glu736Gln) | |
X | g.53984956C>T | CA413251657 | PHF8 | c.2098G>A (p.Glu700Lys) c.2401G>A (p.Glu801Lys) c.*856G>A (n.*856G>A) c.*1843G>A (n.*1843G>A) n.1765G>A c.2350G>A (p.Glu784Lys) c.2509G>A (p.Glu837Lys) c.2112G>A c.1691G>A c.828G>A (p.Met276Ile) c.2206G>A (p.Glu736Lys) | |
X | g.53984957A= | CA2430030651 | PHF8 | c.2097T= (p.Asp699=) c.2400T= (p.Asp800=) c.*855T= (n.*855T=) c.*1842T= (n.*1842T=) n.1764T= c.2349T= (p.Asp783=) c.2508T= (p.Asp836=) c.2111T= c.1690T= c.827T= (p.Met276=) c.2205T= (p.Asp735=) | |
X | g.53984957A>C | CA413251664 | PHF8 | c.2097T>G (p.Asp699Glu) c.2400T>G (p.Asp800Glu) c.*855T>G (n.*855T>G) c.*1842T>G (n.*1842T>G) n.1764T>G c.2349T>G (p.Asp783Glu) c.2508T>G (p.Asp836Glu) c.2111T>G c.1690T>G c.827T>G (p.Met276Arg) c.2205T>G (p.Asp735Glu) | |
X | g.53984957A>G | CA413251662 | PHF8 | c.2097T>C (p.Asp699=) c.2400T>C (p.Asp800=) c.*855T>C (n.*855T>C) c.*1842T>C (n.*1842T>C) n.1764T>C c.2349T>C (p.Asp783=) c.2508T>C (p.Asp836=) c.2111T>C c.1690T>C c.827T>C (p.Met276Thr) c.2205T>C (p.Asp735=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53984957A>T | CA413251660 | PHF8 | c.2097T>A (p.Asp699Glu) c.2400T>A (p.Asp800Glu) c.*855T>A (n.*855T>A) c.*1842T>A (n.*1842T>A) n.1764T>A c.2349T>A (p.Asp783Glu) c.2508T>A (p.Asp836Glu) c.2111T>A c.1690T>A c.827T>A (p.Met276Lys) c.2205T>A (p.Asp735Glu) | |
X | g.53984958T>A | CA413251668 | PHF8 | c.2096A>T (p.Asp699Val) c.2399A>T (p.Asp800Val) c.*854A>T (n.*854A>T) c.*1841A>T (n.*1841A>T) n.1763A>T c.2348A>T (p.Asp783Val) c.2507A>T (p.Asp836Val) c.2110A>T c.1689A>T c.826A>T (p.Met276Leu) c.2204A>T (p.Asp735Val) | |
X | g.53984958T>C | CA413251673 | PHF8 | c.2096A>G (p.Asp699Gly) c.2399A>G (p.Asp800Gly) c.*854A>G (n.*854A>G) c.*1841A>G (n.*1841A>G) n.1763A>G c.2348A>G (p.Asp783Gly) c.2507A>G (p.Asp836Gly) c.2110A>G c.1689A>G c.826A>G (p.Met276Val) c.2204A>G (p.Asp735Gly) | COSMIC COSMIC COSMIC COSMIC |
X | g.53984958T>G | CA413251671 | PHF8 | c.2096A>C (p.Asp699Ala) c.2399A>C (p.Asp800Ala) c.*854A>C (n.*854A>C) c.*1841A>C (n.*1841A>C) n.1763A>C c.2348A>C (p.Asp783Ala) c.2507A>C (p.Asp836Ala) c.2110A>C c.1689A>C c.826A>C (p.Met276Leu) c.2204A>C (p.Asp735Ala) | gnomAD v4 |
X | g.53984959C>A | CA413251676 | PHF8 | c.2095G>T (p.Asp699Tyr) c.2398G>T (p.Asp800Tyr) c.*853G>T (n.*853G>T) c.*1840G>T (n.*1840G>T) n.1762G>T c.2347G>T (p.Asp783Tyr) c.2506G>T (p.Asp836Tyr) c.2109G>T c.1688G>T c.825G>T (p.Trp275Cys) c.2203G>T (p.Asp735Tyr) | |
X | g.53984959C>G | CA413251678 | PHF8 | c.2095G>C (p.Asp699His) c.2398G>C (p.Asp800His) c.*853G>C (n.*853G>C) c.*1840G>C (n.*1840G>C) n.1762G>C c.2347G>C (p.Asp783His) c.2506G>C (p.Asp836His) c.2109G>C c.1688G>C c.825G>C (p.Trp275Cys) c.2203G>C (p.Asp735His) | |
X | g.53984959C>T | CA413251680 | PHF8 | c.2095G>A (p.Asp699Asn) c.2398G>A (p.Asp800Asn) c.*853G>A (n.*853G>A) c.*1840G>A (n.*1840G>A) n.1762G>A c.2347G>A (p.Asp783Asn) c.2506G>A (p.Asp836Asn) c.2109G>A c.1688G>A c.825G>A (p.Trp275Ter) c.2203G>A (p.Asp735Asn) | |
X | g.53984960C>A | CA413251684 | PHF8 | c.2094G>T (p.Leu698=) c.2397G>T (p.Leu799=) c.*852G>T (n.*852G>T) c.*1839G>T (n.*1839G>T) n.1761G>T c.2346G>T (p.Leu782=) c.2505G>T (p.Leu835=) c.2108G>T c.1687G>T c.824G>T (p.Trp275Leu) c.2202G>T (p.Leu734=) | |
X | g.53984960C>G | CA413251686 | PHF8 | c.2094G>C (p.Leu698=) c.2397G>C (p.Leu799=) c.*852G>C (n.*852G>C) c.*1839G>C (n.*1839G>C) n.1761G>C c.2346G>C (p.Leu782=) c.2505G>C (p.Leu835=) c.2108G>C c.1687G>C c.824G>C (p.Trp275Ser) c.2202G>C (p.Leu734=) | |
X | g.53984960C>T | CA413251688 | PHF8 | c.2094G>A (p.Leu698=) c.2397G>A (p.Leu799=) c.*852G>A (n.*852G>A) c.*1839G>A (n.*1839G>A) n.1761G>A c.2346G>A (p.Leu782=) c.2505G>A (p.Leu835=) c.2108G>A c.1687G>A c.824G>A (p.Trp275Ter) c.2202G>A (p.Leu734=) | gnomAD v4 |
X | g.53984961A>C | CA413251691 | PHF8 | c.2093T>G (p.Leu698Arg) c.2396T>G (p.Leu799Arg) c.*851T>G (n.*851T>G) c.*1838T>G (n.*1838T>G) n.1760T>G c.2345T>G (p.Leu782Arg) c.2504T>G (p.Leu835Arg) c.2107T>G c.1686T>G c.823T>G (p.Trp275Gly) c.2201T>G (p.Leu734Arg) | |
X | g.53984961A>G | CA413251693 | PHF8 | c.2093T>C (p.Leu698Pro) c.2396T>C (p.Leu799Pro) c.*851T>C (n.*851T>C) c.*1838T>C (n.*1838T>C) n.1760T>C c.2345T>C (p.Leu782Pro) c.2504T>C (p.Leu835Pro) c.2107T>C c.1686T>C c.823T>C (p.Trp275Arg) c.2201T>C (p.Leu734Pro) | |
X | g.53984961A>T | CA413251695 | PHF8 | c.2093T>A (p.Leu698Gln) c.2396T>A (p.Leu799Gln) c.*851T>A (n.*851T>A) c.*1838T>A (n.*1838T>A) n.1760T>A c.2345T>A (p.Leu782Gln) c.2504T>A (p.Leu835Gln) c.2107T>A c.1686T>A c.823T>A (p.Trp275Arg) c.2201T>A (p.Leu734Gln) | |
X | g.53984962G>A | CA516688693 | PHF8 | c.2092C>T (p.Leu698=) c.2395C>T (p.Leu799=) c.*850C>T (n.*850C>T) c.*1837C>T (n.*1837C>T) n.1759C>T c.2344C>T (p.Leu782=) c.2503C>T (p.Leu835=) c.2106C>T c.1685C>T c.822C>T (p.Val274=) c.2200C>T (p.Leu734=) | |
X | g.53984962G>C | CA413251698 | PHF8 | c.2092C>G (p.Leu698Val) c.2395C>G (p.Leu799Val) c.*850C>G (n.*850C>G) c.*1837C>G (n.*1837C>G) n.1759C>G c.2344C>G (p.Leu782Val) c.2503C>G (p.Leu835Val) c.2106C>G c.1685C>G c.822C>G (p.Val274=) c.2200C>G (p.Leu734Val) | gnomAD v4 |
X | g.53984962G= | CA2430030652 | PHF8 | c.2092C= (p.Leu698=) c.2395C= (p.Leu799=) c.*850C= (n.*850C=) c.*1837C= (n.*1837C=) n.1759C= c.2344C= (p.Leu782=) c.2503C= (p.Leu835=) c.2106C= c.1685C= c.822C= (p.Val274=) c.2200C= (p.Leu734=) | |
X | g.53984962G>T | CA413251700 | PHF8 | c.2092C>A (p.Leu698Met) c.2395C>A (p.Leu799Met) c.*850C>A (n.*850C>A) c.*1837C>A (n.*1837C>A) n.1759C>A c.2344C>A (p.Leu782Met) c.2503C>A (p.Leu835Met) c.2106C>A c.1685C>A c.822C>A (p.Val274=) c.2200C>A (p.Leu734Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53984963A= | CA2430030653 | PHF8 | c.2091T= (p.Ser697=) c.2394T= (p.Ser798=) c.*849T= (n.*849T=) c.*1836T= (n.*1836T=) n.1758T= c.2343T= (p.Ser781=) c.2502T= (p.Ser834=) c.2105T= c.1684T= c.821T= (p.Val274=) c.2199T= (p.Ser733=) | |
X | g.53984963A>C | CA413251706 | PHF8 | c.2091T>G (p.Ser697Arg) c.2394T>G (p.Ser798Arg) c.*849T>G (n.*849T>G) c.*1836T>G (n.*1836T>G) n.1758T>G c.2343T>G (p.Ser781Arg) c.2502T>G (p.Ser834Arg) c.2105T>G c.1684T>G c.821T>G (p.Val274Gly) c.2199T>G (p.Ser733Arg) | |
X | g.53984963A>G | CA10423295 | PHF8 | c.2091T>C (p.Ser697=) c.2394T>C (p.Ser798=) c.*849T>C (n.*849T>C) c.*1836T>C (n.*1836T>C) n.1758T>C c.2343T>C (p.Ser781=) c.2502T>C (p.Ser834=) c.2105T>C c.1684T>C c.821T>C (p.Val274Ala) c.2199T>C (p.Ser733=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53984963A>T | CA413251703 | PHF8 | c.2091T>A (p.Ser697Arg) c.2394T>A (p.Ser798Arg) c.*849T>A (n.*849T>A) c.*1836T>A (n.*1836T>A) n.1758T>A c.2343T>A (p.Ser781Arg) c.2502T>A (p.Ser834Arg) c.2105T>A c.1684T>A c.821T>A (p.Val274Asp) c.2199T>A (p.Ser733Arg) | |
X | g.53984964C>A | CA10423296 | PHF8 | c.2090G>T (p.Ser697Ile) c.2393G>T (p.Ser798Ile) c.*848G>T (n.*848G>T) c.*1835G>T (n.*1835G>T) n.1757G>T c.2342G>T (p.Ser781Ile) c.2501G>T (p.Ser834Ile) c.2104G>T c.1683G>T c.820G>T (p.Val274Phe) c.2198G>T (p.Ser733Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53984964C= | CA2430030654 | PHF8 | c.2090G= (p.Ser697=) c.2393G= (p.Ser798=) c.*848G= (n.*848G=) c.*1835G= (n.*1835G=) n.1757G= c.2342G= (p.Ser781=) c.2501G= (p.Ser834=) c.2104G= c.1683G= c.820G= (p.Val274=) c.2198G= (p.Ser733=) | |
X | g.53984964C>G | CA413251711 | PHF8 | c.2090G>C (p.Ser697Thr) c.2393G>C (p.Ser798Thr) c.*848G>C (n.*848G>C) c.*1835G>C (n.*1835G>C) n.1757G>C c.2342G>C (p.Ser781Thr) c.2501G>C (p.Ser834Thr) c.2104G>C c.1683G>C c.820G>C (p.Val274Leu) c.2198G>C (p.Ser733Thr) | |
X | g.53984964C>T | CA413251713 | PHF8 | c.2090G>A (p.Ser697Asn) c.2393G>A (p.Ser798Asn) c.*848G>A (n.*848G>A) c.*1835G>A (n.*1835G>A) n.1757G>A c.2342G>A (p.Ser781Asn) c.2501G>A (p.Ser834Asn) c.2104G>A c.1683G>A c.820G>A (p.Val274Ile) c.2198G>A (p.Ser733Asn) | |
X | g.53984965T>A | CA413251717 | PHF8 | c.2089A>T (p.Ser697Cys) c.2392A>T (p.Ser798Cys) c.*847A>T (n.*847A>T) c.*1834A>T (n.*1834A>T) n.1756A>T c.2341A>T (p.Ser781Cys) c.2500A>T (p.Ser834Cys) c.2103A>T c.1682A>T c.819A>T (p.Pro273=) c.2197A>T (p.Ser733Cys) | |
X | g.53984965T>C | CA413251719 | PHF8 | c.2089A>G (p.Ser697Gly) c.2392A>G (p.Ser798Gly) c.*847A>G (n.*847A>G) c.*1834A>G (n.*1834A>G) n.1756A>G c.2341A>G (p.Ser781Gly) c.2500A>G (p.Ser834Gly) c.2103A>G c.1682A>G c.819A>G (p.Pro273=) c.2197A>G (p.Ser733Gly) | |
X | g.53984965T>G | CA413251721 | PHF8 | c.2089A>C (p.Ser697Arg) c.2392A>C (p.Ser798Arg) c.*847A>C (n.*847A>C) c.*1834A>C (n.*1834A>C) n.1756A>C c.2341A>C (p.Ser781Arg) c.2500A>C (p.Ser834Arg) c.2103A>C c.1682A>C c.819A>C (p.Pro273=) c.2197A>C (p.Ser733Arg) | |
X | g.53984966G>A | CA413251723 | PHF8 | c.2088C>T (p.Ala696=) c.2391C>T (p.Ala797=) c.*846C>T (n.*846C>T) c.*1833C>T (n.*1833C>T) n.1755C>T c.2340C>T (p.Ala780=) c.2499C>T (p.Ala833=) c.2102C>T c.1681C>T c.818C>T (p.Pro273Leu) c.2196C>T (p.Ala732=) | |
X | g.53984966G>C | CA413251726 | PHF8 | c.2088C>G (p.Ala696=) c.2391C>G (p.Ala797=) c.*846C>G (n.*846C>G) c.*1833C>G (n.*1833C>G) n.1755C>G c.2340C>G (p.Ala780=) c.2499C>G (p.Ala833=) c.2102C>G c.1681C>G c.818C>G (p.Pro273Arg) c.2196C>G (p.Ala732=) | |
X | g.53984966G>T | CA413251728 | PHF8 | c.2088C>A (p.Ala696=) c.2391C>A (p.Ala797=) c.*846C>A (n.*846C>A) c.*1833C>A (n.*1833C>A) n.1755C>A c.2340C>A (p.Ala780=) c.2499C>A (p.Ala833=) c.2102C>A c.1681C>A c.818C>A (p.Pro273Gln) c.2196C>A (p.Ala732=) | |
X | g.53984967G>A | CA413251731 | PHF8 | c.2087C>T (p.Ala696Val) c.2390C>T (p.Ala797Val) c.*845C>T (n.*845C>T) c.*1832C>T (n.*1832C>T) n.1754C>T c.2339C>T (p.Ala780Val) c.2498C>T (p.Ala833Val) c.2101C>T c.1680C>T c.817C>T (p.Pro273Ser) c.2195C>T (p.Ala732Val) | gnomAD v4 |
X | g.53984967G>C | CA413251733 | PHF8 | c.2087C>G (p.Ala696Gly) c.2390C>G (p.Ala797Gly) c.*845C>G (n.*845C>G) c.*1832C>G (n.*1832C>G) n.1754C>G c.2339C>G (p.Ala780Gly) c.2498C>G (p.Ala833Gly) c.2101C>G c.1680C>G c.817C>G (p.Pro273Ala) c.2195C>G (p.Ala732Gly) | |
X | g.53984967G>T | CA413251735 | PHF8 | c.2087C>A (p.Ala696Asp) c.2390C>A (p.Ala797Asp) c.*845C>A (n.*845C>A) c.*1832C>A (n.*1832C>A) n.1754C>A c.2339C>A (p.Ala780Asp) c.2498C>A (p.Ala833Asp) c.2101C>A c.1680C>A c.817C>A (p.Pro273Thr) c.2195C>A (p.Ala732Asp) | |
X | g.53984968C>A | CA413251742 | PHF8 | c.2086G>T (p.Ala696Ser) c.2389G>T (p.Ala797Ser) c.*844G>T (n.*844G>T) c.*1831G>T (n.*1831G>T) n.1753G>T c.2338G>T (p.Ala780Ser) c.2497G>T (p.Ala833Ser) c.2100G>T c.1679G>T c.816G>T (p.Thr272=) c.2194G>T (p.Ala732Ser) | |
X | g.53984968C= | CA2430030655 | PHF8 | c.2086G= (p.Ala696=) c.2389G= (p.Ala797=) c.*844G= (n.*844G=) c.*1831G= (n.*1831G=) n.1753G= c.2338G= (p.Ala780=) c.2497G= (p.Ala833=) c.2100G= c.1679G= c.816G= (p.Thr272=) c.2194G= (p.Ala732=) | |
X | g.53984968C>G | CA413251740 | PHF8 | c.2086G>C (p.Ala696Pro) c.2389G>C (p.Ala797Pro) c.*844G>C (n.*844G>C) c.*1831G>C (n.*1831G>C) n.1753G>C c.2338G>C (p.Ala780Pro) c.2497G>C (p.Ala833Pro) c.2100G>C c.1679G>C c.816G>C (p.Thr272=) c.2194G>C (p.Ala732Pro) | |
X | g.53984968C>T | CA10423297 | PHF8 | c.2086G>A (p.Ala696Thr) c.2389G>A (p.Ala797Thr) c.*844G>A (n.*844G>A) c.*1831G>A (n.*1831G>A) n.1753G>A c.2338G>A (p.Ala780Thr) c.2497G>A (p.Ala833Thr) c.2100G>A c.1679G>A c.816G>A (p.Thr272=) c.2194G>A (p.Ala732Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53984969G>A | CA10423298 | PHF8 | c.2085C>T (p.Asn695=) c.2388C>T (p.Asn796=) c.*843C>T (n.*843C>T) c.*1830C>T (n.*1830C>T) n.1752C>T c.2337C>T (p.Asn779=) c.2496C>T (p.Asn832=) c.2099C>T c.1678C>T c.815C>T (p.Thr272Met) c.2193C>T (p.Asn731=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53984969G>C | CA413251746 | PHF8 | c.2085C>G (p.Asn695Lys) c.2388C>G (p.Asn796Lys) c.*843C>G (n.*843C>G) c.*1830C>G (n.*1830C>G) n.1752C>G c.2337C>G (p.Asn779Lys) c.2496C>G (p.Asn832Lys) c.2099C>G c.1678C>G c.815C>G (p.Thr272Arg) c.2193C>G (p.Asn731Lys) | |
X | g.53984969G= | CA2430030656 | PHF8 | c.2085C= (p.Asn695=) c.2388C= (p.Asn796=) c.*843C= (n.*843C=) c.*1830C= (n.*1830C=) n.1752C= c.2337C= (p.Asn779=) c.2496C= (p.Asn832=) c.2099C= c.1678C= c.815C= (p.Thr272=) c.2193C= (p.Asn731=) | |
X | g.53984969G>T | CA10423299 | PHF8 | c.2085C>A (p.Asn695Lys) c.2388C>A (p.Asn796Lys) c.*843C>A (n.*843C>A) c.*1830C>A (n.*1830C>A) n.1752C>A c.2337C>A (p.Asn779Lys) c.2496C>A (p.Asn832Lys) c.2099C>A c.1678C>A c.815C>A (p.Thr272Lys) c.2193C>A (p.Asn731Lys) | dbSNP ExAC gnomAD v2 |
X | g.53984970T>A | CA413251751 | PHF8 | c.2084A>T (p.Asn695Ile) c.2387A>T (p.Asn796Ile) c.*842A>T (n.*842A>T) c.*1829A>T (n.*1829A>T) n.1751A>T c.2336A>T (p.Asn779Ile) c.2495A>T (p.Asn832Ile) c.2098A>T c.1677A>T c.814A>T (p.Thr272Ser) c.2192A>T (p.Asn731Ile) | |
X | g.53984970T>C | CA413251753 | PHF8 | c.2084A>G (p.Asn695Ser) c.2387A>G (p.Asn796Ser) c.*842A>G (n.*842A>G) c.*1829A>G (n.*1829A>G) n.1751A>G c.2336A>G (p.Asn779Ser) c.2495A>G (p.Asn832Ser) c.2098A>G c.1677A>G c.814A>G (p.Thr272Ala) c.2192A>G (p.Asn731Ser) | |
X | g.53984970T>G | CA413251756 | PHF8 | c.2084A>C (p.Asn695Thr) c.2387A>C (p.Asn796Thr) c.*842A>C (n.*842A>C) c.*1829A>C (n.*1829A>C) n.1751A>C c.2336A>C (p.Asn779Thr) c.2495A>C (p.Asn832Thr) c.2098A>C c.1677A>C c.814A>C (p.Thr272Pro) c.2192A>C (p.Asn731Thr) | |
X | g.53984971T>A | CA413251759 | PHF8 | c.2083A>T (p.Asn695Tyr) c.2386A>T (p.Asn796Tyr) c.*841A>T (n.*841A>T) c.*1828A>T (n.*1828A>T) n.1750A>T c.2335A>T (p.Asn779Tyr) c.2494A>T (p.Asn832Tyr) c.2097A>T c.1676A>T c.813A>T (p.Arg271Ser) c.2191A>T (p.Asn731Tyr) | |
X | g.53984971T>C | CA413251761 | PHF8 | c.2083A>G (p.Asn695Asp) c.2386A>G (p.Asn796Asp) c.*841A>G (n.*841A>G) c.*1828A>G (n.*1828A>G) n.1750A>G c.2335A>G (p.Asn779Asp) c.2494A>G (p.Asn832Asp) c.2097A>G c.1676A>G c.813A>G (p.Arg271=) c.2191A>G (p.Asn731Asp) | |
X | g.53984971T>G | CA413251763 | PHF8 | c.2083A>C (p.Asn695His) c.2386A>C (p.Asn796His) c.*841A>C (n.*841A>C) c.*1828A>C (n.*1828A>C) n.1750A>C c.2335A>C (p.Asn779His) c.2494A>C (p.Asn832His) c.2097A>C c.1676A>C c.813A>C (p.Arg271Ser) c.2191A>C (p.Asn731His) | |
X | g.53984971_53984974delinsTCTC | CA2430030657 | PHF8 | c.2080_2083delinsGAGA (p.Glu694=) c.2383_2386delinsGAGA (p.Glu795=) c.*838_*841delinsGAGA (n.*838_*841delinsGAGA) c.*1825_*1828delinsGAGA (n.*1825_*1828delinsGAGA) n.1747_1750delinsGAGA c.2332_2335delinsGAGA (p.Glu778=) c.2491_2494delinsGAGA (p.Glu831=) c.2094_2097delinsGAGA c.1673_1676delinsGAGA c.810_813delinsGAGA (p.Arg270=) c.2188_2191delinsGAGA (p.Glu730=) | |
X | g.53984972C>A | CA413251769 | PHF8 | c.2082G>T (p.Glu694Asp) c.2385G>T (p.Glu795Asp) c.*840G>T (n.*840G>T) c.*1827G>T (n.*1827G>T) n.1749G>T c.2334G>T (p.Glu778Asp) c.2493G>T (p.Glu831Asp) c.2096G>T c.1675G>T c.812G>T (p.Arg271Ile) c.2190G>T (p.Glu730Asp) | |
X | g.53984972C>G | CA413251770 | PHF8 | c.2082G>C (p.Glu694Asp) c.2385G>C (p.Glu795Asp) c.*840G>C (n.*840G>C) c.*1827G>C (n.*1827G>C) n.1749G>C c.2334G>C (p.Glu778Asp) c.2493G>C (p.Glu831Asp) c.2096G>C c.1675G>C c.812G>C (p.Arg271Thr) c.2190G>C (p.Glu730Asp) | |
X | g.53984972C>T | CA413251772 | PHF8 | c.2082G>A (p.Glu694=) c.2385G>A (p.Glu795=) c.*840G>A (n.*840G>A) c.*1827G>A (n.*1827G>A) n.1749G>A c.2334G>A (p.Glu778=) c.2493G>A (p.Glu831=) c.2096G>A c.1675G>A c.812G>A (p.Arg271Lys) c.2190G>A (p.Glu730=) | |
X | g.53984984_53984986dup | CA10423301 | PHF8 | c.2080_2082dup (p.Glu694_Asn695insGlu) c.2383_2385dup (p.Glu795_Asn796insGlu) c.*838_*840dup (n.*838_*840dup) c.*1825_*1827dup (n.*1825_*1827dup) n.1747_1749dup c.2332_2334dup (p.Glu778_Asn779insGlu) c.2491_2493dup (p.Glu831_Asn832insGlu) c.2094_2096dup c.1673_1675dup c.810_812dup (p.Arg271_Thr272insArg) c.2188_2190dup (p.Glu730_Asn731insGlu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53984984_53984986del | CA10423300 | PHF8 | c.2080_2082del (p.Glu694del) c.2383_2385del (p.Glu795del) c.*838_*840del (n.*838_*840del) c.*1825_*1827del (n.*1825_*1827del) n.1747_1749del c.2332_2334del (p.Glu778del) c.2491_2493del (p.Glu831del) c.2094_2096del c.1673_1675del c.810_812del (p.Arg271del) c.2188_2190del (p.Glu730del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
X | g.53984981_53984986del | CA2521958049 | PHF8 | c.2077_2082del (p.Glu693_Glu694del) c.2380_2385del (p.Glu794_Glu795del) c.*835_*840del (n.*835_*840del) c.*1822_*1827del (n.*1822_*1827del) n.1744_1749del c.2329_2334del (p.Glu777_Glu778del) c.2488_2493del (p.Glu830_Glu831del) c.2091_2096del c.1670_1675del c.807_812del (p.Arg270_Arg271del) c.2185_2190del (p.Glu729_Glu730del) | |
X | g.53984973T>A | CA413251778 | PHF8 | c.2081A>T (p.Glu694Val) c.2384A>T (p.Glu795Val) c.*839A>T (n.*839A>T) c.*1826A>T (n.*1826A>T) n.1748A>T c.2333A>T (p.Glu778Val) c.2492A>T (p.Glu831Val) c.2095A>T c.1674A>T c.811A>T (p.Arg271Ter) c.2189A>T (p.Glu730Val) | |
X | g.53984973T>C | CA413251774 | PHF8 | c.2081A>G (p.Glu694Gly) c.2384A>G (p.Glu795Gly) c.*839A>G (n.*839A>G) c.*1826A>G (n.*1826A>G) n.1748A>G c.2333A>G (p.Glu778Gly) c.2492A>G (p.Glu831Gly) c.2095A>G c.1674A>G c.811A>G (p.Arg271Gly) c.2189A>G (p.Glu730Gly) | |
X | g.53984973T>G | CA413251776 | PHF8 | c.2081A>C (p.Glu694Ala) c.2384A>C (p.Glu795Ala) c.*839A>C (n.*839A>C) c.*1826A>C (n.*1826A>C) n.1748A>C c.2333A>C (p.Glu778Ala) c.2492A>C (p.Glu831Ala) c.2095A>C c.1674A>C c.811A>C (p.Arg271=) c.2189A>C (p.Glu730Ala) | |
X | g.53984974C>A | CA413251781 | PHF8 | c.2080G>T (p.Glu694Ter) c.2383G>T (p.Glu795Ter) c.*838G>T (n.*838G>T) c.*1825G>T (n.*1825G>T) n.1747G>T c.2332G>T (p.Glu778Ter) c.2491G>T (p.Glu831Ter) c.2094G>T c.1673G>T c.810G>T (p.Arg270Ser) c.2188G>T (p.Glu730Ter) | |
X | g.53984974C>G | CA413251784 | PHF8 | c.2080G>C (p.Glu694Gln) c.2383G>C (p.Glu795Gln) c.*838G>C (n.*838G>C) c.*1825G>C (n.*1825G>C) n.1747G>C c.2332G>C (p.Glu778Gln) c.2491G>C (p.Glu831Gln) c.2094G>C c.1673G>C c.810G>C (p.Arg270Ser) c.2188G>C (p.Glu730Gln) | |
X | g.53984974C>T | CA413251786 | PHF8 | c.2080G>A (p.Glu694Lys) c.2383G>A (p.Glu795Lys) c.*838G>A (n.*838G>A) c.*1825G>A (n.*1825G>A) n.1747G>A c.2332G>A (p.Glu778Lys) c.2491G>A (p.Glu831Lys) c.2094G>A c.1673G>A c.810G>A (p.Arg270=) c.2188G>A (p.Glu730Lys) | |
X | g.53984975C>A | CA413251789 | PHF8 | c.2079G>T (p.Glu693Asp) c.2382G>T (p.Glu794Asp) c.*837G>T (n.*837G>T) c.*1824G>T (n.*1824G>T) n.1746G>T c.2331G>T (p.Glu777Asp) c.2490G>T (p.Glu830Asp) c.2093G>T c.1672G>T c.809G>T (p.Arg270Met) c.2187G>T (p.Glu729Asp) | |
X | g.53984975C>G | CA413251792 | PHF8 | c.2079G>C (p.Glu693Asp) c.2382G>C (p.Glu794Asp) c.*837G>C (n.*837G>C) c.*1824G>C (n.*1824G>C) n.1746G>C c.2331G>C (p.Glu777Asp) c.2490G>C (p.Glu830Asp) c.2093G>C c.1672G>C c.809G>C (p.Arg270Thr) c.2187G>C (p.Glu729Asp) | |
X | g.53984975C>T | CA413251794 | PHF8 | c.2079G>A (p.Glu693=) c.2382G>A (p.Glu794=) c.*837G>A (n.*837G>A) c.*1824G>A (n.*1824G>A) n.1746G>A c.2331G>A (p.Glu777=) c.2490G>A (p.Glu830=) c.2093G>A c.1672G>A c.809G>A (p.Arg270Lys) c.2187G>A (p.Glu729=) | |
X | g.53984976T>A | CA413251797 | PHF8 | c.2078A>T (p.Glu693Val) c.2381A>T (p.Glu794Val) c.*836A>T (n.*836A>T) c.*1823A>T (n.*1823A>T) n.1745A>T c.2330A>T (p.Glu777Val) c.2489A>T (p.Glu830Val) c.2092A>T c.1671A>T c.808A>T (p.Arg270Trp) c.2186A>T (p.Glu729Val) | |
X | g.53984976T>C | CA413251799 | PHF8 | c.2078A>G (p.Glu693Gly) c.2381A>G (p.Glu794Gly) c.*836A>G (n.*836A>G) c.*1823A>G (n.*1823A>G) n.1745A>G c.2330A>G (p.Glu777Gly) c.2489A>G (p.Glu830Gly) c.2092A>G c.1671A>G c.808A>G (p.Arg270Gly) c.2186A>G (p.Glu729Gly) | |
X | g.53984976T>G | CA413251802 | PHF8 | c.2078A>C (p.Glu693Ala) c.2381A>C (p.Glu794Ala) c.*836A>C (n.*836A>C) c.*1823A>C (n.*1823A>C) n.1745A>C c.2330A>C (p.Glu777Ala) c.2489A>C (p.Glu830Ala) c.2092A>C c.1671A>C c.808A>C (p.Arg270=) c.2186A>C (p.Glu729Ala) | |
X | g.53984977C>A | CA413251804 | PHF8 | c.2077G>T (p.Glu693Ter) c.2380G>T (p.Glu794Ter) c.*835G>T (n.*835G>T) c.*1822G>T (n.*1822G>T) n.1744G>T c.2329G>T (p.Glu777Ter) c.2488G>T (p.Glu830Ter) c.2091G>T c.1670G>T c.807G>T (p.Arg269Ser) c.2185G>T (p.Glu729Ter) | |
X | g.53984977C>G | CA413251806 | PHF8 | c.2077G>C (p.Glu693Gln) c.2380G>C (p.Glu794Gln) c.*835G>C (n.*835G>C) c.*1822G>C (n.*1822G>C) n.1744G>C c.2329G>C (p.Glu777Gln) c.2488G>C (p.Glu830Gln) c.2091G>C c.1670G>C c.807G>C (p.Arg269Ser) c.2185G>C (p.Glu729Gln) | |
X | g.53984977C>T | CA413251809 | PHF8 | c.2077G>A (p.Glu693Lys) c.2380G>A (p.Glu794Lys) c.*835G>A (n.*835G>A) c.*1822G>A (n.*1822G>A) n.1744G>A c.2329G>A (p.Glu777Lys) c.2488G>A (p.Glu830Lys) c.2091G>A c.1670G>A c.807G>A (p.Arg269=) c.2185G>A (p.Glu729Lys) | |
X | g.53984978C>A | CA413251816 | PHF8 | c.2076G>T (p.Glu692Asp) c.2379G>T (p.Glu793Asp) c.*834G>T (n.*834G>T) c.*1821G>T (n.*1821G>T) n.1743G>T c.2328G>T (p.Glu776Asp) c.2487G>T (p.Glu829Asp) c.2090G>T c.1669G>T c.806G>T (p.Arg269Met) c.2184G>T (p.Glu728Asp) | |
X | g.53984978C>G | CA413251814 | PHF8 | c.2076G>C (p.Glu692Asp) c.2379G>C (p.Glu793Asp) c.*834G>C (n.*834G>C) c.*1821G>C (n.*1821G>C) n.1743G>C c.2328G>C (p.Glu776Asp) c.2487G>C (p.Glu829Asp) c.2090G>C c.1669G>C c.806G>C (p.Arg269Thr) c.2184G>C (p.Glu728Asp) | |
X | g.53984978C>T | CA413251812 | PHF8 | c.2076G>A (p.Glu692=) c.2379G>A (p.Glu793=) c.*834G>A (n.*834G>A) c.*1821G>A (n.*1821G>A) n.1743G>A c.2328G>A (p.Glu776=) c.2487G>A (p.Glu829=) c.2090G>A c.1669G>A c.806G>A (p.Arg269Lys) c.2184G>A (p.Glu728=) | |
X | g.53984979T>A | CA413251819 | PHF8 | c.2075A>T (p.Glu692Val) c.2378A>T (p.Glu793Val) c.*833A>T (n.*833A>T) c.*1820A>T (n.*1820A>T) n.1742A>T c.2327A>T (p.Glu776Val) c.2486A>T (p.Glu829Val) c.2089A>T c.1668A>T c.805A>T (p.Arg269Trp) c.2183A>T (p.Glu728Val) | |
X | g.53984979T>C | CA413251823 | PHF8 | c.2075A>G (p.Glu692Gly) c.2378A>G (p.Glu793Gly) c.*833A>G (n.*833A>G) c.*1820A>G (n.*1820A>G) n.1742A>G c.2327A>G (p.Glu776Gly) c.2486A>G (p.Glu829Gly) c.2089A>G c.1668A>G c.805A>G (p.Arg269Gly) c.2183A>G (p.Glu728Gly) | |
X | g.53984979T>G | CA413251821 | PHF8 | c.2075A>C (p.Glu692Ala) c.2378A>C (p.Glu793Ala) c.*833A>C (n.*833A>C) c.*1820A>C (n.*1820A>C) n.1742A>C c.2327A>C (p.Glu776Ala) c.2486A>C (p.Glu829Ala) c.2089A>C c.1668A>C c.805A>C (p.Arg269=) c.2183A>C (p.Glu728Ala) | |
X | g.53984980C>A | CA413251826 | PHF8 | c.2074G>T (p.Glu692Ter) c.2377G>T (p.Glu793Ter) c.*832G>T (n.*832G>T) c.*1819G>T (n.*1819G>T) n.1741G>T c.2326G>T (p.Glu776Ter) c.2485G>T (p.Glu829Ter) c.2088G>T c.1667G>T c.804G>T (p.Arg268Ser) c.2182G>T (p.Glu728Ter) | |
X | g.53984980C>G | CA413251828 | PHF8 | c.2074G>C (p.Glu692Gln) c.2377G>C (p.Glu793Gln) c.*832G>C (n.*832G>C) c.*1819G>C (n.*1819G>C) n.1741G>C c.2326G>C (p.Glu776Gln) c.2485G>C (p.Glu829Gln) c.2088G>C c.1667G>C c.804G>C (p.Arg268Ser) c.2182G>C (p.Glu728Gln) | |
X | g.53984980C>T | CA413251831 | PHF8 | c.2074G>A (p.Glu692Lys) c.2377G>A (p.Glu793Lys) c.*832G>A (n.*832G>A) c.*1819G>A (n.*1819G>A) n.1741G>A c.2326G>A (p.Glu776Lys) c.2485G>A (p.Glu829Lys) c.2088G>A c.1667G>A c.804G>A (p.Arg268=) c.2182G>A (p.Glu728Lys) | |
X | g.53984981C>A | CA413251834 | PHF8 | c.2073G>T (p.Glu691Asp) c.2376G>T (p.Glu792Asp) c.*831G>T (n.*831G>T) c.*1818G>T (n.*1818G>T) n.1740G>T c.2325G>T (p.Glu775Asp) c.2484G>T (p.Glu828Asp) c.2087G>T c.1666G>T c.803G>T (p.Arg268Met) c.2181G>T (p.Glu727Asp) | |
X | g.53984981C= | CA2430030658 | PHF8 | c.2073G= (p.Glu691=) c.2376G= (p.Glu792=) c.*831G= (n.*831G=) c.*1818G= (n.*1818G=) n.1740G= c.2325G= (p.Glu775=) c.2484G= (p.Glu828=) c.2087G= c.1666G= c.803G= (p.Arg268=) c.2181G= (p.Glu727=) | |
X | g.53984981C>G | CA413251836 | PHF8 | c.2073G>C (p.Glu691Asp) c.2376G>C (p.Glu792Asp) c.*831G>C (n.*831G>C) c.*1818G>C (n.*1818G>C) n.1740G>C c.2325G>C (p.Glu775Asp) c.2484G>C (p.Glu828Asp) c.2087G>C c.1666G>C c.803G>C (p.Arg268Thr) c.2181G>C (p.Glu727Asp) | |
X | g.53984981C>T | CA413251838 | PHF8 | c.2073G>A (p.Glu691=) c.2376G>A (p.Glu792=) c.*831G>A (n.*831G>A) c.*1818G>A (n.*1818G>A) n.1740G>A c.2325G>A (p.Glu775=) c.2484G>A (p.Glu828=) c.2087G>A c.1666G>A c.803G>A (p.Arg268Lys) c.2181G>A (p.Glu727=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53984982T>A | CA413251846 | PHF8 | c.2072A>T (p.Glu691Val) c.2375A>T (p.Glu792Val) c.*830A>T (n.*830A>T) c.*1817A>T (n.*1817A>T) n.1739A>T c.2324A>T (p.Glu775Val) c.2483A>T (p.Glu828Val) c.2086A>T c.1665A>T c.802A>T (p.Arg268Trp) c.2180A>T (p.Glu727Val) | |
X | g.53984982T>C | CA413251844 | PHF8 | c.2072A>G (p.Glu691Gly) c.2375A>G (p.Glu792Gly) c.*830A>G (n.*830A>G) c.*1817A>G (n.*1817A>G) n.1739A>G c.2324A>G (p.Glu775Gly) c.2483A>G (p.Glu828Gly) c.2086A>G c.1665A>G c.802A>G (p.Arg268Gly) c.2180A>G (p.Glu727Gly) | |
X | g.53984982T>G | CA413251842 | PHF8 | c.2072A>C (p.Glu691Ala) c.2375A>C (p.Glu792Ala) c.*830A>C (n.*830A>C) c.*1817A>C (n.*1817A>C) n.1739A>C c.2324A>C (p.Glu775Ala) c.2483A>C (p.Glu828Ala) c.2086A>C c.1665A>C c.802A>C (p.Arg268=) c.2180A>C (p.Glu727Ala) | |
X | g.53984983C>A | CA413251849 | PHF8 | c.2071G>T (p.Glu691Ter) c.2374G>T (p.Glu792Ter) c.*829G>T (n.*829G>T) c.*1816G>T (n.*1816G>T) n.1738G>T c.2323G>T (p.Glu775Ter) c.2482G>T (p.Glu828Ter) c.2085G>T c.1664G>T c.801G>T (p.Arg267Ser) c.2179G>T (p.Glu727Ter) | |
X | g.53984983C>G | CA413251851 | PHF8 | c.2071G>C (p.Glu691Gln) c.2374G>C (p.Glu792Gln) c.*829G>C (n.*829G>C) c.*1816G>C (n.*1816G>C) n.1738G>C c.2323G>C (p.Glu775Gln) c.2482G>C (p.Glu828Gln) c.2085G>C c.1664G>C c.801G>C (p.Arg267Ser) c.2179G>C (p.Glu727Gln) | |
X | g.53984983C>T | CA413251853 | PHF8 | c.2071G>A (p.Glu691Lys) c.2374G>A (p.Glu792Lys) c.*829G>A (n.*829G>A) c.*1816G>A (n.*1816G>A) n.1738G>A c.2323G>A (p.Glu775Lys) c.2482G>A (p.Glu828Lys) c.2085G>A c.1664G>A c.801G>A (p.Arg267=) c.2179G>A (p.Glu727Lys) | |
X | g.53984984C>A | CA413251856 | PHF8 | c.2070G>T (p.Glu690Asp) c.2373G>T (p.Glu791Asp) c.*828G>T (n.*828G>T) c.*1815G>T (n.*1815G>T) n.1737G>T c.2322G>T (p.Glu774Asp) c.2481G>T (p.Glu827Asp) c.2084G>T c.1663G>T c.800G>T (p.Arg267Met) c.2178G>T (p.Glu726Asp) | |
X | g.53984984C>G | CA413251858 | PHF8 | c.2070G>C (p.Glu690Asp) c.2373G>C (p.Glu791Asp) c.*828G>C (n.*828G>C) c.*1815G>C (n.*1815G>C) n.1737G>C c.2322G>C (p.Glu774Asp) c.2481G>C (p.Glu827Asp) c.2084G>C c.1663G>C c.800G>C (p.Arg267Thr) c.2178G>C (p.Glu726Asp) | |
X | g.53984984C>T | CA413251860 | PHF8 | c.2070G>A (p.Glu690=) c.2373G>A (p.Glu791=) c.*828G>A (n.*828G>A) c.*1815G>A (n.*1815G>A) n.1737G>A c.2322G>A (p.Glu774=) c.2481G>A (p.Glu827=) c.2084G>A c.1663G>A c.800G>A (p.Arg267Lys) c.2178G>A (p.Glu726=) | |
X | g.53984985T>A | CA413251863 | PHF8 | c.2069A>T (p.Glu690Val) c.2372A>T (p.Glu791Val) c.*827A>T (n.*827A>T) c.*1814A>T (n.*1814A>T) n.1736A>T c.2321A>T (p.Glu774Val) c.2480A>T (p.Glu827Val) c.2083A>T c.1662A>T c.799A>T (p.Arg267Trp) c.2177A>T (p.Glu726Val) | |
X | g.53984985T>C | CA413251867 | PHF8 | c.2069A>G (p.Glu690Gly) c.2372A>G (p.Glu791Gly) c.*827A>G (n.*827A>G) c.*1814A>G (n.*1814A>G) n.1736A>G c.2321A>G (p.Glu774Gly) c.2480A>G (p.Glu827Gly) c.2083A>G c.1662A>G c.799A>G (p.Arg267Gly) c.2177A>G (p.Glu726Gly) | |
X | g.53984985T>G | CA413251864 | PHF8 | c.2069A>C (p.Glu690Ala) c.2372A>C (p.Glu791Ala) c.*827A>C (n.*827A>C) c.*1814A>C (n.*1814A>C) n.1736A>C c.2321A>C (p.Glu774Ala) c.2480A>C (p.Glu827Ala) c.2083A>C c.1662A>C c.799A>C (p.Arg267=) c.2177A>C (p.Glu726Ala) | |
X | g.53984986C>A | CA413251869 | PHF8 | c.2068G>T (p.Glu690Ter) c.2371G>T (p.Glu791Ter) c.*826G>T (n.*826G>T) c.*1813G>T (n.*1813G>T) n.1735G>T c.2320G>T (p.Glu774Ter) c.2479G>T (p.Glu827Ter) c.2082G>T c.1661G>T c.798G>T (p.Ala266=) c.2176G>T (p.Glu726Ter) | |
X | g.53984986C= | CA2430030659 | PHF8 | c.2068G= (p.Glu690=) c.2371G= (p.Glu791=) c.*826G= (n.*826G=) c.*1813G= (n.*1813G=) n.1735G= c.2320G= (p.Glu774=) c.2479G= (p.Glu827=) c.2082G= c.1661G= c.798G= (p.Ala266=) c.2176G= (p.Glu726=) | |
X | g.53984986C>G | CA413251871 | PHF8 | c.2068G>C (p.Glu690Gln) c.2371G>C (p.Glu791Gln) c.*826G>C (n.*826G>C) c.*1813G>C (n.*1813G>C) n.1735G>C c.2320G>C (p.Glu774Gln) c.2479G>C (p.Glu827Gln) c.2082G>C c.1661G>C c.798G>C (p.Ala266=) c.2176G>C (p.Glu726Gln) | |
X | g.53984986C>T | CA413251873 | PHF8 | c.2068G>A (p.Glu690Lys) c.2371G>A (p.Glu791Lys) c.*826G>A (n.*826G>A) c.*1813G>A (n.*1813G>A) n.1735G>A c.2320G>A (p.Glu774Lys) c.2479G>A (p.Glu827Lys) c.2082G>A c.1661G>A c.798G>A (p.Ala266=) c.2176G>A (p.Glu726Lys) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53984987G>A | CA413251876 | PHF8 | c.2067C>T (p.Ser689=) c.2370C>T (p.Ser790=) c.*825C>T (n.*825C>T) c.*1812C>T (n.*1812C>T) n.1734C>T c.2319C>T (p.Ser773=) c.2478C>T (p.Ser826=) c.2081C>T c.1660C>T c.797C>T (p.Ala266Val) c.2175C>T (p.Ser725=) | dbSNP gnomAD v4 |
X | g.53984987G>C | CA413251878 | PHF8 | c.2067C>G (p.Ser689Arg) c.2370C>G (p.Ser790Arg) c.*825C>G (n.*825C>G) c.*1812C>G (n.*1812C>G) n.1734C>G c.2319C>G (p.Ser773Arg) c.2478C>G (p.Ser826Arg) c.2081C>G c.1660C>G c.797C>G (p.Ala266Gly) c.2175C>G (p.Ser725Arg) | |
X | g.53984987G= | CA2430030660 | PHF8 | c.2067C= (p.Ser689=) c.2370C= (p.Ser790=) c.*825C= (n.*825C=) c.*1812C= (n.*1812C=) n.1734C= c.2319C= (p.Ser773=) c.2478C= (p.Ser826=) c.2081C= c.1660C= c.797C= (p.Ala266=) c.2175C= (p.Ser725=) | |
X | g.53984987G>T | CA413251880 | PHF8 | c.2067C>A (p.Ser689Arg) c.2370C>A (p.Ser790Arg) c.*825C>A (n.*825C>A) c.*1812C>A (n.*1812C>A) n.1734C>A c.2319C>A (p.Ser773Arg) c.2478C>A (p.Ser826Arg) c.2081C>A c.1660C>A c.797C>A (p.Ala266Glu) c.2175C>A (p.Ser725Arg) | |
X | g.53984988C>A | CA413251884 | PHF8 | c.2066G>T (p.Ser689Ile) c.2369G>T (p.Ser790Ile) c.*824G>T (n.*824G>T) c.*1811G>T (n.*1811G>T) n.1733G>T c.2318G>T (p.Ser773Ile) c.2477G>T (p.Ser826Ile) c.2080G>T c.1659G>T c.796G>T (p.Ala266Ser) c.2174G>T (p.Ser725Ile) | |
X | g.53984988C>G | CA413251886 | PHF8 | c.2066G>C (p.Ser689Thr) c.2369G>C (p.Ser790Thr) c.*824G>C (n.*824G>C) c.*1811G>C (n.*1811G>C) n.1733G>C c.2318G>C (p.Ser773Thr) c.2477G>C (p.Ser826Thr) c.2080G>C c.1659G>C c.796G>C (p.Ala266Pro) c.2174G>C (p.Ser725Thr) | |
X | g.53984988C>T | CA413251888 | PHF8 | c.2066G>A (p.Ser689Asn) c.2369G>A (p.Ser790Asn) c.*824G>A (n.*824G>A) c.*1811G>A (n.*1811G>A) n.1733G>A c.2318G>A (p.Ser773Asn) c.2477G>A (p.Ser826Asn) c.2080G>A c.1659G>A c.796G>A (p.Ala266Thr) c.2174G>A (p.Ser725Asn) | gnomAD v4 |
X | g.53984989T>A | CA413251891 | PHF8 | c.2065A>T (p.Ser689Cys) c.2368A>T (p.Ser790Cys) c.*823A>T (n.*823A>T) c.*1810A>T (n.*1810A>T) n.1732A>T c.2317A>T (p.Ser773Cys) c.2476A>T (p.Ser826Cys) c.2079A>T c.1658A>T c.795A>T (p.Arg265Ser) c.2173A>T (p.Ser725Cys) | |
X | g.53984989T>C | CA10423302 | PHF8 | c.2065A>G (p.Ser689Gly) c.2368A>G (p.Ser790Gly) c.*823A>G (n.*823A>G) c.*1810A>G (n.*1810A>G) n.1732A>G c.2317A>G (p.Ser773Gly) c.2476A>G (p.Ser826Gly) c.2079A>G c.1658A>G c.795A>G (p.Arg265=) c.2173A>G (p.Ser725Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53984989T>G | CA413251895 | PHF8 | c.2065A>C (p.Ser689Arg) c.2368A>C (p.Ser790Arg) c.*823A>C (n.*823A>C) c.*1810A>C (n.*1810A>C) n.1732A>C c.2317A>C (p.Ser773Arg) c.2476A>C (p.Ser826Arg) c.2079A>C c.1658A>C c.795A>C (p.Arg265Ser) c.2173A>C (p.Ser725Arg) | |
X | g.53984989T= | CA2430030661 | PHF8 | c.2065A= (p.Ser689=) c.2368A= (p.Ser790=) c.*823A= (n.*823A=) c.*1810A= (n.*1810A=) n.1732A= c.2317A= (p.Ser773=) c.2476A= (p.Ser826=) c.2079A= c.1658A= c.795A= (p.Arg265=) c.2173A= (p.Ser725=) | |
X | g.53984990C>A | CA413251898 | PHF8 | c.2064G>T (p.Glu688Asp) c.2367G>T (p.Glu789Asp) c.*822G>T (n.*822G>T) c.*1809G>T (n.*1809G>T) n.1731G>T c.2316G>T (p.Glu772Asp) c.2475G>T (p.Glu825Asp) c.2078G>T c.1657G>T c.794G>T (p.Arg265Ile) c.2172G>T (p.Glu724Asp) | |
X | g.53984990C= | CA2430030662 | PHF8 | c.2064G= (p.Glu688=) c.2367G= (p.Glu789=) c.*822G= (n.*822G=) c.*1809G= (n.*1809G=) n.1731G= c.2316G= (p.Glu772=) c.2475G= (p.Glu825=) c.2078G= c.1657G= c.794G= (p.Arg265=) c.2172G= (p.Glu724=) | |
X | g.53984990C>G | CA413251902 | PHF8 | c.2064G>C (p.Glu688Asp) c.2367G>C (p.Glu789Asp) c.*822G>C (n.*822G>C) c.*1809G>C (n.*1809G>C) n.1731G>C c.2316G>C (p.Glu772Asp) c.2475G>C (p.Glu825Asp) c.2078G>C c.1657G>C c.794G>C (p.Arg265Thr) c.2172G>C (p.Glu724Asp) | dbSNP gnomAD v4 |
X | g.53984990C>T | CA413251900 | PHF8 | c.2064G>A (p.Glu688=) c.2367G>A (p.Glu789=) c.*822G>A (n.*822G>A) c.*1809G>A (n.*1809G>A) n.1731G>A c.2316G>A (p.Glu772=) c.2475G>A (p.Glu825=) c.2078G>A c.1657G>A c.794G>A (p.Arg265Lys) c.2172G>A (p.Glu724=) | gnomAD v4 |
X | g.53984991T>A | CA413251905 | PHF8 | c.2063A>T (p.Glu688Val) c.2366A>T (p.Glu789Val) c.*821A>T (n.*821A>T) c.*1808A>T (n.*1808A>T) n.1730A>T c.2315A>T (p.Glu772Val) c.2474A>T (p.Glu825Val) c.2077A>T c.1656A>T c.793A>T (p.Arg265Ter) c.2171A>T (p.Glu724Val) | |
X | g.53984991T>C | CA413251907 | PHF8 | c.2063A>G (p.Glu688Gly) c.2366A>G (p.Glu789Gly) c.*821A>G (n.*821A>G) c.*1808A>G (n.*1808A>G) n.1730A>G c.2315A>G (p.Glu772Gly) c.2474A>G (p.Glu825Gly) c.2077A>G c.1656A>G c.793A>G (p.Arg265Gly) c.2171A>G (p.Glu724Gly) | |
X | g.53984991T>G | CA413251909 | PHF8 | c.2063A>C (p.Glu688Ala) c.2366A>C (p.Glu789Ala) c.*821A>C (n.*821A>C) c.*1808A>C (n.*1808A>C) n.1730A>C c.2315A>C (p.Glu772Ala) c.2474A>C (p.Glu825Ala) c.2077A>C c.1656A>C c.793A>C (p.Arg265=) c.2171A>C (p.Glu724Ala) | |
X | g.53984992C>A | CA413251912 | PHF8 | c.2062G>T (p.Glu688Ter) c.2365G>T (p.Glu789Ter) c.*820G>T (n.*820G>T) c.*1807G>T (n.*1807G>T) n.1729G>T c.2314G>T (p.Glu772Ter) c.2473G>T (p.Glu825Ter) c.2076G>T c.1655G>T c.792G>T (p.Pro264=) c.2170G>T (p.Glu724Ter) | |
X | g.53984992C= | CA2430030663 | PHF8 | c.2062G= (p.Glu688=) c.2365G= (p.Glu789=) c.*820G= (n.*820G=) c.*1807G= (n.*1807G=) n.1729G= c.2314G= (p.Glu772=) c.2473G= (p.Glu825=) c.2076G= c.1655G= c.792G= (p.Pro264=) c.2170G= (p.Glu724=) | |
X | g.53984992C>G | CA413251914 | PHF8 | c.2062G>C (p.Glu688Gln) c.2365G>C (p.Glu789Gln) c.*820G>C (n.*820G>C) c.*1807G>C (n.*1807G>C) n.1729G>C c.2314G>C (p.Glu772Gln) c.2473G>C (p.Glu825Gln) c.2076G>C c.1655G>C c.792G>C (p.Pro264=) c.2170G>C (p.Glu724Gln) | |
X | g.53984992C>T | CA10423303 | PHF8 | c.2062G>A (p.Glu688Lys) c.2365G>A (p.Glu789Lys) c.*820G>A (n.*820G>A) c.*1807G>A (n.*1807G>A) n.1729G>A c.2314G>A (p.Glu772Lys) c.2473G>A (p.Glu825Lys) c.2076G>A c.1655G>A c.792G>A (p.Pro264=) c.2170G>A (p.Glu724Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
X | g.53984993G>A | CA413251918 | PHF8 | c.2061C>T (p.Thr687=) c.2364C>T (p.Thr788=) c.*819C>T (n.*819C>T) c.*1806C>T (n.*1806C>T) n.1728C>T c.2313C>T (p.Thr771=) c.2472C>T (p.Thr824=) c.2075C>T c.1654C>T c.791C>T (p.Pro264Leu) c.2169C>T (p.Thr723=) | ClinVar gnomAD v4 |
X | g.53984993G>C | CA413251920 | PHF8 | c.2061C>G (p.Thr687=) c.2364C>G (p.Thr788=) c.*819C>G (n.*819C>G) c.*1806C>G (n.*1806C>G) n.1728C>G c.2313C>G (p.Thr771=) c.2472C>G (p.Thr824=) c.2075C>G c.1654C>G c.791C>G (p.Pro264Arg) c.2169C>G (p.Thr723=) | |
X | g.53984993G>T | CA413251923 | PHF8 | c.2061C>A (p.Thr687=) c.2364C>A (p.Thr788=) c.*819C>A (n.*819C>A) c.*1806C>A (n.*1806C>A) n.1728C>A c.2313C>A (p.Thr771=) c.2472C>A (p.Thr824=) c.2075C>A c.1654C>A c.791C>A (p.Pro264Gln) c.2169C>A (p.Thr723=) | |
X | g.53984994G>A | CA413251925 | PHF8 | c.2060C>T (p.Thr687Ile) c.2363C>T (p.Thr788Ile) c.*818C>T (n.*818C>T) c.*1805C>T (n.*1805C>T) n.1727C>T c.2312C>T (p.Thr771Ile) c.2471C>T (p.Thr824Ile) c.2074C>T c.1653C>T c.790C>T (p.Pro264Ser) c.2168C>T (p.Thr723Ile) | |
X | g.53984994G>C | CA413251928 | PHF8 | c.2060C>G (p.Thr687Ser) c.2363C>G (p.Thr788Ser) c.*818C>G (n.*818C>G) c.*1805C>G (n.*1805C>G) n.1727C>G c.2312C>G (p.Thr771Ser) c.2471C>G (p.Thr824Ser) c.2074C>G c.1653C>G c.790C>G (p.Pro264Ala) c.2168C>G (p.Thr723Ser) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53984994G= | CA2430030664 | PHF8 | c.2060C= (p.Thr687=) c.2363C= (p.Thr788=) c.*818C= (n.*818C=) c.*1805C= (n.*1805C=) n.1727C= c.2312C= (p.Thr771=) c.2471C= (p.Thr824=) c.2074C= c.1653C= c.790C= (p.Pro264=) c.2168C= (p.Thr723=) | |
X | g.53984994G>T | CA413251930 | PHF8 | c.2060C>A (p.Thr687Asn) c.2363C>A (p.Thr788Asn) c.*818C>A (n.*818C>A) c.*1805C>A (n.*1805C>A) n.1727C>A c.2312C>A (p.Thr771Asn) c.2471C>A (p.Thr824Asn) c.2074C>A c.1653C>A c.790C>A (p.Pro264Thr) c.2168C>A (p.Thr723Asn) | |
X | g.53984995T>A | CA413251939 | PHF8 | c.2059A>T (p.Thr687Ser) c.2362A>T (p.Thr788Ser) c.*817A>T (n.*817A>T) c.*1804A>T (n.*1804A>T) n.1726A>T c.2311A>T (p.Thr771Ser) c.2470A>T (p.Thr824Ser) c.2073A>T c.1652A>T c.789A>T (p.Glu263Asp) c.2167A>T (p.Thr723Ser) | |
X | g.53984995T>C | CA413251934 | PHF8 | c.2059A>G (p.Thr687Ala) c.2362A>G (p.Thr788Ala) c.*817A>G (n.*817A>G) c.*1804A>G (n.*1804A>G) n.1726A>G c.2311A>G (p.Thr771Ala) c.2470A>G (p.Thr824Ala) c.2073A>G c.1652A>G c.789A>G (p.Glu263=) c.2167A>G (p.Thr723Ala) | |
X | g.53984995T>G | CA413251936 | PHF8 | c.2059A>C (p.Thr687Pro) c.2362A>C (p.Thr788Pro) c.*817A>C (n.*817A>C) c.*1804A>C (n.*1804A>C) n.1726A>C c.2311A>C (p.Thr771Pro) c.2470A>C (p.Thr824Pro) c.2073A>C c.1652A>C c.789A>C (p.Glu263Asp) c.2167A>C (p.Thr723Pro) | |
X | g.53984996T>A | CA413251941 | PHF8 | c.2058A>T (p.Arg686Ser) c.2361A>T (p.Arg787Ser) c.*816A>T (n.*816A>T) c.*1803A>T (n.*1803A>T) n.1725A>T c.2310A>T (p.Arg770Ser) c.2469A>T (p.Arg823Ser) c.2072A>T c.1651A>T c.788A>T (p.Glu263Val) c.2166A>T (p.Arg722Ser) | |
X | g.53984996T>C | CA413251943 | PHF8 | c.2058A>G (p.Arg686=) c.2361A>G (p.Arg787=) c.*816A>G (n.*816A>G) c.*1803A>G (n.*1803A>G) n.1725A>G c.2310A>G (p.Arg770=) c.2469A>G (p.Arg823=) c.2072A>G c.1651A>G c.788A>G (p.Glu263Gly) c.2166A>G (p.Arg722=) | |
X | g.53984996T>G | CA413251946 | PHF8 | c.2058A>C (p.Arg686Ser) c.2361A>C (p.Arg787Ser) c.*816A>C (n.*816A>C) c.*1803A>C (n.*1803A>C) n.1725A>C c.2310A>C (p.Arg770Ser) c.2469A>C (p.Arg823Ser) c.2072A>C c.1651A>C c.788A>C (p.Glu263Ala) c.2166A>C (p.Arg722Ser) | |
X | g.53984997C>A | CA413251948 | PHF8 | c.2057G>T (p.Arg686Ile) c.2360G>T (p.Arg787Ile) c.*815G>T (n.*815G>T) c.*1802G>T (n.*1802G>T) n.1724G>T c.2309G>T (p.Arg770Ile) c.2468G>T (p.Arg823Ile) c.2071G>T c.1650G>T c.787G>T (p.Glu263Ter) c.2165G>T (p.Arg722Ile) | |
X | g.53984997C>G | CA413251951 | PHF8 | c.2057G>C (p.Arg686Thr) c.2360G>C (p.Arg787Thr) c.*815G>C (n.*815G>C) c.*1802G>C (n.*1802G>C) n.1724G>C c.2309G>C (p.Arg770Thr) c.2468G>C (p.Arg823Thr) c.2071G>C c.1650G>C c.787G>C (p.Glu263Gln) c.2165G>C (p.Arg722Thr) | |
X | g.53984997C>T | CA413251953 | PHF8 | c.2057G>A (p.Arg686Lys) c.2360G>A (p.Arg787Lys) c.*815G>A (n.*815G>A) c.*1802G>A (n.*1802G>A) n.1724G>A c.2309G>A (p.Arg770Lys) c.2468G>A (p.Arg823Lys) c.2071G>A c.1650G>A c.787G>A (p.Glu263Lys) c.2165G>A (p.Arg722Lys) | |
X | g.53984998T>A | CA413251956 | PHF8 | c.2056A>T (p.Arg686Ter) c.2359A>T (p.Arg787Ter) c.*814A>T (n.*814A>T) c.*1801A>T (n.*1801A>T) n.1723A>T c.2308A>T (p.Arg770Ter) c.2467A>T (p.Arg823Ter) c.2070A>T c.1649A>T c.786A>T (p.Gly262=) c.2164A>T (p.Arg722Ter) | |
X | g.53984998T>C | CA413251958 | PHF8 | c.2056A>G (p.Arg686Gly) c.2359A>G (p.Arg787Gly) c.*814A>G (n.*814A>G) c.*1801A>G (n.*1801A>G) n.1723A>G c.2308A>G (p.Arg770Gly) c.2467A>G (p.Arg823Gly) c.2070A>G c.1649A>G c.786A>G (p.Gly262=) c.2164A>G (p.Arg722Gly) | |
X | g.53984998T>G | CA516688822 | PHF8 | c.2056A>C (p.Arg686=) c.2359A>C (p.Arg787=) c.*814A>C (n.*814A>C) c.*1801A>C (n.*1801A>C) n.1723A>C c.2308A>C (p.Arg770=) c.2467A>C (p.Arg823=) c.2070A>C c.1649A>C c.786A>C (p.Gly262=) c.2164A>C (p.Arg722=) | |
X | g.53984999C>A | CA413251960 | PHF8 | c.2055G>T (p.Trp685Cys) c.2358G>T (p.Trp786Cys) c.*813G>T (n.*813G>T) c.*1800G>T (n.*1800G>T) n.1722G>T c.2307G>T (p.Trp769Cys) c.2466G>T (p.Trp822Cys) c.2069G>T c.1648G>T c.785G>T (p.Gly262Val) c.2163G>T (p.Trp721Cys) | |
X | g.53984999C>G | CA413251962 | PHF8 | c.2055G>C (p.Trp685Cys) c.2358G>C (p.Trp786Cys) c.*813G>C (n.*813G>C) c.*1800G>C (n.*1800G>C) n.1722G>C c.2307G>C (p.Trp769Cys) c.2466G>C (p.Trp822Cys) c.2069G>C c.1648G>C c.785G>C (p.Gly262Ala) c.2163G>C (p.Trp721Cys) | COSMIC |
X | g.53984999C>T | CA413251964 | PHF8 | c.2055G>A (p.Trp685Ter) c.2358G>A (p.Trp786Ter) c.*813G>A (n.*813G>A) c.*1800G>A (n.*1800G>A) n.1722G>A c.2307G>A (p.Trp769Ter) c.2466G>A (p.Trp822Ter) c.2069G>A c.1648G>A c.785G>A (p.Gly262Glu) c.2163G>A (p.Trp721Ter) | |
X | g.53985000C>A | CA413251971 | PHF8 | c.2054G>T (p.Trp685Leu) c.2357G>T (p.Trp786Leu) c.*812G>T (n.*812G>T) c.*1799G>T (n.*1799G>T) n.1721G>T c.2306G>T (p.Trp769Leu) c.2465G>T (p.Trp822Leu) c.2068G>T c.1647G>T c.784G>T (p.Gly262Ter) c.2162G>T (p.Trp721Leu) | |
X | g.53985000C>G | CA413251968 | PHF8 | c.2054G>C (p.Trp685Ser) c.2357G>C (p.Trp786Ser) c.*812G>C (n.*812G>C) c.*1799G>C (n.*1799G>C) n.1721G>C c.2306G>C (p.Trp769Ser) c.2465G>C (p.Trp822Ser) c.2068G>C c.1647G>C c.784G>C (p.Gly262Arg) c.2162G>C (p.Trp721Ser) | |
X | g.53985000C>T | CA413251967 | PHF8 | c.2054G>A (p.Trp685Ter) c.2357G>A (p.Trp786Ter) c.*812G>A (n.*812G>A) c.*1799G>A (n.*1799G>A) n.1721G>A c.2306G>A (p.Trp769Ter) c.2465G>A (p.Trp822Ter) c.2068G>A c.1647G>A c.784G>A (p.Gly262Arg) c.2162G>A (p.Trp721Ter) | |
X | g.53985001A>C | CA413251974 | PHF8 | c.2053T>G (p.Trp685Gly) c.2356T>G (p.Trp786Gly) c.*811T>G (n.*811T>G) c.*1798T>G (n.*1798T>G) n.1720T>G c.2305T>G (p.Trp769Gly) c.2464T>G (p.Trp822Gly) c.2067T>G c.1646T>G c.783T>G (p.Thr261=) c.2161T>G (p.Trp721Gly) | gnomAD v4 |
X | g.53985001A>G | CA413251975 | PHF8 | c.2053T>C (p.Trp685Arg) c.2356T>C (p.Trp786Arg) c.*811T>C (n.*811T>C) c.*1798T>C (n.*1798T>C) n.1720T>C c.2305T>C (p.Trp769Arg) c.2464T>C (p.Trp822Arg) c.2067T>C c.1646T>C c.783T>C (p.Thr261=) c.2161T>C (p.Trp721Arg) | |
X | g.53985001A>T | CA413251977 | PHF8 | c.2053T>A (p.Trp685Arg) c.2356T>A (p.Trp786Arg) c.*811T>A (n.*811T>A) c.*1798T>A (n.*1798T>A) n.1720T>A c.2305T>A (p.Trp769Arg) c.2464T>A (p.Trp822Arg) c.2067T>A c.1646T>A c.783T>A (p.Thr261=) c.2161T>A (p.Trp721Arg) |