Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.1495765_1495766delinsGA | CA2242889119 | INPP5K | c.*57_*58delinsTC (n.*57_*58delinsTC) c.*995_*996delinsTC (n.*995_*996delinsTC) | |
17 | g.1495766A>G | CA2528091338 | INPP5K | c.*57T>C (n.*57T>C) c.*995T>C (n.*995T>C) | gnomAD v4 |
17 | g.1495768del | CA2242889121 | INPP5K | c.*57del (n.*57del) c.*995del (n.*995del) | dbSNP |
17 | g.1495767A>G | CA2635219021 | INPP5K | c.*56T>C (n.*56T>C) c.*994T>C (n.*994T>C) | gnomAD v4 |
17 | g.1495768A= | CA2242889122 | INPP5K | c.*55T= (n.*55T=) c.*993T= (n.*993T=) | |
17 | g.1495768A>G | CA2242889123 | INPP5K | c.*55T>C (n.*55T>C) c.*993T>C (n.*993T>C) | dbSNP gnomAD v4 |
17 | g.1495769G>A | CA2242889125 | INPP5K | c.*54C>T (n.*54C>T) c.*992C>T (n.*992C>T) | dbSNP |
17 | g.1495769G= | CA2242889124 | INPP5K | c.*54C= (n.*54C=) c.*992C= (n.*992C=) | |
17 | g.1495769G>T | CA2635219023 | INPP5K | c.*54C>A (n.*54C>A) c.*992C>A (n.*992C>A) | gnomAD v4 |
17 | g.1495770G>A | CA2576110807 | INPP5K | c.*53C>T (n.*53C>T) c.*991C>T (n.*991C>T) | gnomAD v4 |
17 | g.1495770G>C | CA2576110808 | INPP5K | c.*53C>G (n.*53C>G) c.*991C>G (n.*991C>G) | gnomAD v4 |
17 | g.1495770G>T | CA2635219025 | INPP5K | c.*53C>A (n.*53C>A) c.*991C>A (n.*991C>A) | gnomAD v4 |
17 | g.1495771C= | CA2242889126 | INPP5K | c.*52G= (n.*52G=) c.*990G= (n.*990G=) | |
17 | g.1495771C>T | CA286807398 | INPP5K | c.*52G>A (n.*52G>A) c.*990G>A (n.*990G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.1495771dup | CA2576110809 | INPP5K | c.*52dup (n.*52dup) c.*990dup (n.*990dup) | |
17 | g.1495772A= | CA2242889128 | INPP5K | c.*51T= (n.*51T=) c.*989T= (n.*989T=) | |
17 | g.1495772A>G | CA2242889127 | INPP5K | c.*51T>C (n.*51T>C) c.*989T>C (n.*989T>C) | dbSNP gnomAD v4 |
17 | g.1495772A>T | CA2635219028 | INPP5K | c.*51T>A (n.*51T>A) c.*989T>A (n.*989T>A) | gnomAD v4 |
17 | g.1495773G>A | CA8268270 | INPP5K | c.*50C>T (n.*50C>T) c.*988C>T (n.*988C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1495773G>C | CA8268269 | INPP5K | c.*50C>G (n.*50C>G) c.*988C>G (n.*988C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1495773G= | CA2242889129 | INPP5K | c.*50C= (n.*50C=) c.*988C= (n.*988C=) | |
17 | g.1495773G>T | CA2635219031 | INPP5K | c.*50C>A (n.*50C>A) c.*988C>A (n.*988C>A) | gnomAD v4 |
17 | g.1495774A= | CA2242889130 | INPP5K | c.*49T= (n.*49T=) c.*987T= (n.*987T=) | |
17 | g.1495774A>G | CA2635219033 | INPP5K | c.*49T>C (n.*49T>C) c.*987T>C (n.*987T>C) | gnomAD v4 |
17 | g.1495774A>T | CA8268271 | INPP5K | c.*49T>A (n.*49T>A) c.*987T>A (n.*987T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1495775G>T | CA2635219036 | INPP5K | c.*48C>A (n.*48C>A) c.*986C>A (n.*986C>A) | gnomAD v4 |
17 | g.1495776C>A | CA2635219040 | INPP5K | c.*47G>T (n.*47G>T) c.*985G>T (n.*985G>T) | gnomAD v4 |
17 | g.1495776C>T | CA2635219041 | INPP5K | c.*47G>A (n.*47G>A) c.*985G>A (n.*985G>A) | gnomAD v4 |
17 | g.1495781_1495793del | CA2635219039 | INPP5K | c.*35_*47del (n.*35_*47del) c.*973_*985del (n.*973_*985del) | gnomAD v4 |
17 | g.1495777T>C | CA2635219044 | INPP5K | c.*46A>G (n.*46A>G) c.*984A>G (n.*984A>G) | gnomAD v4 |
17 | g.1495778G>A | CA286807420 | INPP5K | c.*45C>T (n.*45C>T) c.*983C>T (n.*983C>T) | dbSNP |
17 | g.1495778G= | CA2242889131 | INPP5K | c.*45C= (n.*45C=) c.*983C= (n.*983C=) | |
17 | g.1495778G>T | CA2576110810 | INPP5K | c.*45C>A (n.*45C>A) c.*983C>A (n.*983C>A) | gnomAD v4 |
17 | g.1495779del | CA2635219045 | INPP5K | c.*45del (n.*45del) c.*983del (n.*983del) | gnomAD v4 |
17 | g.1495779G>A | CA8268272 | INPP5K | c.*44C>T (n.*44C>T) c.*982C>T (n.*982C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1495779G= | CA2242889133 | INPP5K | c.*44C= (n.*44C=) c.*982C= (n.*982C=) | |
17 | g.1495779G>T | CA2635219046 | INPP5K | c.*44C>A (n.*44C>A) c.*982C>A (n.*982C>A) | gnomAD v4 |
17 | g.1495779_1495780delinsAG | CA286807427 | INPP5K | c.*43_*44delinsCT (n.*43_*44delinsCT) c.*981_*982delinsCT (n.*981_*982delinsCT) | dbSNP |
17 | g.1495779_1495780delinsGC | CA2242889132 | INPP5K | c.*43_*44delinsGC (n.*43_*44delinsGC) c.*981_*982delinsGC (n.*981_*982delinsGC) | |
17 | g.1495780C= | CA2242889134 | INPP5K | c.*43G= (n.*43G=) c.*981G= (n.*981G=) | |
17 | g.1495780C>G | CA8268273 | INPP5K | c.*43G>C (n.*43G>C) c.*981G>C (n.*981G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1495780C>T | CA2635219048 | INPP5K | c.*43G>A (n.*43G>A) c.*981G>A (n.*981G>A) | gnomAD v4 |
17 | g.1495781T>A | CA2576110811 | INPP5K | c.*42A>T (n.*42A>T) c.*980A>T (n.*980A>T) | gnomAD v4 |
17 | g.1495781T>C | CA2635219049 | INPP5K | c.*42A>G (n.*42A>G) c.*980A>G (n.*980A>G) | gnomAD v4 |
17 | g.1495782G>A | CA2635219050 | INPP5K | c.*41C>T (n.*41C>T) c.*979C>T (n.*979C>T) | gnomAD v4 |
17 | g.1495782G>T | CA2635219051 | INPP5K | c.*41C>A (n.*41C>A) c.*979C>A (n.*979C>A) | gnomAD v4 |
17 | g.1495783C>A | CA2635219052 | INPP5K | c.*40G>T (n.*40G>T) c.*978G>T (n.*978G>T) | gnomAD v4 |
17 | g.1495783C= | CA2242889135 | INPP5K | c.*40G= (n.*40G=) c.*978G= (n.*978G=) | |
17 | g.1495783C>G | CA8268274 | INPP5K | c.*40G>C (n.*40G>C) c.*978G>C (n.*978G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.1495783C>T | CA2576110812 | INPP5K | c.*40G>A (n.*40G>A) c.*978G>A (n.*978G>A) | gnomAD v4 |
17 | g.1495784C>A | CA2635219053 | INPP5K | c.*39G>T (n.*39G>T) c.*977G>T (n.*977G>T) | gnomAD v4 |
17 | g.1495784C>T | CA2576110813 | INPP5K | c.*39G>A (n.*39G>A) c.*977G>A (n.*977G>A) | gnomAD v4 |
17 | g.1495785A= | CA2242889136 | INPP5K | c.*38T= (n.*38T=) c.*976T= (n.*976T=) | |
17 | g.1495785A>C | CA2242889137 | INPP5K | c.*38T>G (n.*38T>G) c.*976T>G (n.*976T>G) | dbSNP |
17 | g.1495786G>A | CA2242889139 | INPP5K | c.*37C>T (n.*37C>T) c.*975C>T (n.*975C>T) | dbSNP gnomAD v4 |
17 | g.1495786G= | CA2242889138 | INPP5K | c.*37C= (n.*37C=) c.*975C= (n.*975C=) | |
17 | g.1495786G>T | CA2576110814 | INPP5K | c.*37C>A (n.*37C>A) c.*975C>A (n.*975C>A) | gnomAD v4 |
17 | g.1495787C>A | CA2635219054 | INPP5K | c.*36G>T (n.*36G>T) c.*974G>T (n.*974G>T) | gnomAD v4 |
17 | g.1495787C>G | CA2635219055 | INPP5K | c.*36G>C (n.*36G>C) c.*974G>C (n.*974G>C) | gnomAD v4 |
17 | g.1495787C>T | CA2635219056 | INPP5K | c.*36G>A (n.*36G>A) c.*974G>A (n.*974G>A) | gnomAD v4 |
17 | g.1495788T>C | CA2635219057 | INPP5K | c.*35A>G (n.*35A>G) c.*973A>G (n.*973A>G) | gnomAD v4 |
17 | g.1495788T>G | CA2242889141 | INPP5K | c.*35A>C (n.*35A>C) c.*973A>C (n.*973A>C) | dbSNP |
17 | g.1495788T= | CA2242889140 | INPP5K | c.*35A= (n.*35A=) c.*973A= (n.*973A=) | |
17 | g.1495790T>C | CA2635219058 | INPP5K | c.*33A>G (n.*33A>G) c.*971A>G (n.*971A>G) | gnomAD v4 |
17 | g.1495791G>A | CA2635219059 | INPP5K | c.*32C>T (n.*32C>T) c.*970C>T (n.*970C>T) | gnomAD v4 |
17 | g.1495791G>T | CA2576110816 | INPP5K | c.*32C>A (n.*32C>A) c.*970C>A (n.*970C>A) | gnomAD v4 |
17 | g.1495792del | CA2576110815 | INPP5K | c.*32del (n.*32del) c.*970del (n.*970del) | gnomAD v4 |
17 | g.1495792G>A | CA2576110817 | INPP5K | c.*31C>T (n.*31C>T) c.*969C>T (n.*969C>T) | gnomAD v4 |
17 | g.1495792G>C | CA2576110818 | INPP5K | c.*31C>G (n.*31C>G) c.*969C>G (n.*969C>G) | |
17 | g.1495792G>T | CA2635219060 | INPP5K | c.*31C>A (n.*31C>A) c.*969C>A (n.*969C>A) | gnomAD v4 |
17 | g.1495793C>T | CA2635219061 | INPP5K | c.*30G>A (n.*30G>A) c.*968G>A (n.*968G>A) | gnomAD v4 |
17 | g.1495794C>T | CA2635219062 | INPP5K | c.*29G>A (n.*29G>A) c.*967G>A (n.*967G>A) | gnomAD v4 |
17 | g.1495795T>A | CA2635219063 | INPP5K | c.*28A>T (n.*28A>T) c.*966A>T (n.*966A>T) | gnomAD v4 |
17 | g.1495795T>C | CA2635219064 | INPP5K | c.*28A>G (n.*28A>G) c.*966A>G (n.*966A>G) | gnomAD v4 |
17 | g.1495797del | CA2576110819 | INPP5K | c.*27del (n.*27del) c.*965del (n.*965del) | |
17 | g.1495797C= | CA2242889142 | INPP5K | c.*26G= (n.*26G=) c.*964G= (n.*964G=) | |
17 | g.1495797C>T | CA8268275 | INPP5K | c.*26G>A (n.*26G>A) c.*964G>A (n.*964G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1495798_1495799del | CA2576110820 | INPP5K | c.*25_*26del (n.*25_*26del) c.*963_*964del (n.*963_*964del) | |
17 | g.1495798del | CA2733111145 | INPP5K | c.*25del (n.*25del) c.*963del (n.*963del) | dbSNP |
17 | g.1495798G>A | CA8268276 | INPP5K | c.*25C>T (n.*25C>T) c.*963C>T (n.*963C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1495798G= | CA2242889143 | INPP5K | c.*25C= (n.*25C=) c.*963C= (n.*963C=) | |
17 | g.1495798G>T | CA2242889144 | INPP5K | c.*25C>A (n.*25C>A) c.*963C>A (n.*963C>A) | dbSNP gnomAD v4 |
17 | g.1495799C= | CA2242889145 | INPP5K | c.*24G= (n.*24G=) c.*962G= (n.*962G=) | |
17 | g.1495799C>G | CA2242889146 | INPP5K | c.*24G>C (n.*24G>C) c.*962G>C (n.*962G>C) | dbSNP |
17 | g.1495799C>T | CA624343100 | INPP5K | c.*24G>A (n.*24G>A) c.*962G>A (n.*962G>A) | dbSNP gnomAD v2 |
17 | g.1495800C>A | CA2576110821 | INPP5K | c.*23G>T (n.*23G>T) c.*961G>T (n.*961G>T) n.482G>T | |
17 | g.1495802G>T | CA2635219065 | INPP5K | c.*21C>A (n.*21C>A) c.*959C>A (n.*959C>A) n.480C>A | gnomAD v4 |
17 | g.1495804del | CA2576110822 | INPP5K | c.*21del (n.*21del) c.*959del (n.*959del) n.480del | gnomAD v4 |
17 | g.1495803G>C | CA2576110823 | INPP5K | c.*20C>G (n.*20C>G) c.*958C>G (n.*958C>G) n.479C>G | gnomAD v4 |
17 | g.1495804G>A | CA2576110824 | INPP5K | c.*19C>T (n.*19C>T) c.*957C>T (n.*957C>T) n.478C>T | |
17 | g.1495804G>T | CA2635219066 | INPP5K | c.*19C>A (n.*19C>A) c.*957C>A (n.*957C>A) n.478C>A | gnomAD v4 |
17 | g.1495805A= | CA2242889147 | INPP5K | c.*18T= (n.*18T=) c.*956T= (n.*956T=) n.477T= | |
17 | g.1495805A>G | CA2242889148 | INPP5K | c.*18T>C (n.*18T>C) c.*956T>C (n.*956T>C) n.477T>C | dbSNP |
17 | g.1495807T>G | CA2635219067 | INPP5K | c.*16A>C (n.*16A>C) c.*954A>C (n.*954A>C) n.475A>C | gnomAD v4 |
17 | g.1495810C>G | CA2808185631 | INPP5K | c.*13G>C (n.*13G>C) c.*951G>C (n.*951G>C) n.472G>C | |
17 | g.1495812C= | CA2242889149 | INPP5K | c.*11G= (n.*11G=) c.*949G= (n.*949G=) n.470G= | |
17 | g.1495812C>G | CA624343102 | INPP5K | c.*11G>C (n.*11G>C) c.*949G>C (n.*949G>C) n.470G>C | dbSNP gnomAD v2 |
17 | g.1495812C>T | CA2635219068 | INPP5K | c.*11G>A (n.*11G>A) c.*949G>A (n.*949G>A) n.470G>A | gnomAD v4 |
17 | g.1495814del | CA2576110825 | INPP5K | c.*11del (n.*11del) c.*949del (n.*949del) n.470del | |
17 | g.1495813C= | CA2242889151 | INPP5K | c.*10G= (n.*10G=) c.*948G= (n.*948G=) n.469G= | |
17 | g.1495813C>T | CA8268277 | INPP5K | c.*10G>A (n.*10G>A) c.*948G>A (n.*948G>A) n.469G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.1495813_1495826delinsCCATCCTGGCTCAG | CA2242889150 | INPP5K | c.1344_*10delinsCTGAGCCAGGATGG (n.[c.1344_*10delinsCTGAGCCAGGATGG;Ile448=]) c.1116_*10delinsCTGAGCCAGGATGG (n.[c.1116_*10delinsCTGAGCCAGGATGG;Ile372=]) c.*935_*948delinsCTGAGCCAGGATGG (n.*935_*948delinsCTGAGCCAGGATGG) n.456_469delinsCTGAGCCAGGATGG c.1068_*10delinsCTGAGCCAGGATGG (n.[c.1068_*10delinsCTGAGCCAGGATGG;Ile356=]) c.939_*10delinsCTGAGCCAGGATGG (n.[c.939_*10delinsCTGAGCCAGGATGG;Ile313=]) | |
17 | g.1495814C= | CA2242889152 | INPP5K | c.*9G= (n.*9G=) c.*947G= (n.*947G=) n.468G= | |
17 | g.1495814C>T | CA497278557 | INPP5K | c.*9G>A (n.*9G>A) c.*947G>A (n.*947G>A) n.468G>A | dbSNP gnomAD v4 |
17 | g.1495814_1495826del | CA726340217 | INPP5K | c.1344_*9del (n.[c.1344_*9del;Ile448MetfsTer3]) c.1116_*9del (n.[c.1116_*9del;Ile372MetfsTer3]) c.*935_*947del (n.*935_*947del) n.456_468del c.1068_*9del (n.[c.1068_*9del;Ile356MetfsTer3]) c.939_*9del (n.[c.939_*9del;Ile313MetfsTer3]) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.1495815A>G | CA2635219070 | INPP5K | c.*8T>C (n.*8T>C) c.*946T>C (n.*946T>C) n.467T>C | gnomAD v4 |
17 | g.1495816T>C | CA286807445 | INPP5K | c.*7A>G (n.*7A>G) c.*945A>G (n.*945A>G) n.466A>G | dbSNP gnomAD v4 |
17 | g.1495816T= | CA2242889153 | INPP5K | c.*7A= (n.*7A=) c.*945A= (n.*945A=) n.466A= | |
17 | g.1495817C= | CA2242889154 | INPP5K | c.*6G= (n.*6G=) c.*944G= (n.*944G=) n.465G= | |
17 | g.1495817C>G | CA8268278 | INPP5K | c.*6G>C (n.*6G>C) c.*944G>C (n.*944G>C) n.465G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1495817C>T | CA2635219071 | INPP5K | c.*6G>A (n.*6G>A) c.*944G>A (n.*944G>A) n.465G>A | gnomAD v4 |
17 | g.1495818C= | CA2242889155 | INPP5K | c.*5G= (n.*5G=) c.*943G= (n.*943G=) n.464G= | |
17 | g.1495818C>G | CA286807451 | INPP5K | c.*5G>C (n.*5G>C) c.*943G>C (n.*943G>C) n.464G>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.1495818C>T | CA2635219073 | INPP5K | c.*5G>A (n.*5G>A) c.*943G>A (n.*943G>A) n.464G>A | gnomAD v4 |
17 | g.1495819T>C | CA980651179 | INPP5K | c.*4A>G (n.*4A>G) c.*942A>G (n.*942A>G) n.463A>G | gnomAD v3 gnomAD v4 |
17 | g.1495820G>A | CA2242889157 | INPP5K | c.*3C>T (n.*3C>T) c.*941C>T (n.*941C>T) n.462C>T | dbSNP |
17 | g.1495820G= | CA2242889156 | INPP5K | c.*3C= (n.*3C=) c.*941C= (n.*941C=) n.462C= | |
17 | g.1495821G>T | CA2635219075 | INPP5K | c.*2C>A (n.*2C>A) c.*940C>A (n.*940C>A) n.461C>A | gnomAD v4 |
17 | g.1495822C>A | CA8268279 | INPP5K | c.*1G>T (n.*1G>T) c.*939G>T (n.*939G>T) n.460G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.1495822C= | CA2242889158 | INPP5K | c.*1G= (n.*1G=) c.*939G= (n.*939G=) n.460G= | |
17 | g.1495823T>A | CA397535374 | INPP5K | c.1347A>T (p.Ter449Cys) c.1119A>T (p.Ter373Cys) c.*938A>T (n.*938A>T) n.459A>T c.1071A>T (p.Ter357Cys) c.942A>T (p.Ter314Cys) | gnomAD v4 |
17 | g.1495823T>C | CA397535377 | INPP5K | c.1347A>G (p.Ter449Trp) c.1119A>G (p.Ter373Trp) c.*938A>G (n.*938A>G) n.459A>G c.1071A>G (p.Ter357Trp) c.942A>G (p.Ter314Trp) | |
17 | g.1495823T>G | CA397535380 | INPP5K | c.1347A>C (p.Ter449Cys) c.1119A>C (p.Ter373Cys) c.*938A>C (n.*938A>C) n.459A>C c.1071A>C (p.Ter357Cys) c.942A>C (p.Ter314Cys) | |
17 | g.1495823_1495825delinsTCA | CA2242889159 | INPP5K | c.1345_1347delinsTGA (p.Ter449=) c.1117_1119delinsTGA (p.Ter373=) c.*936_*938delinsTGA (n.*936_*938delinsTGA) n.457_459delinsTGA c.1069_1071delinsTGA (p.Ter357=) c.940_942delinsTGA (p.Ter314=) | |
17 | g.1495824C>A | CA397535383 | INPP5K | c.1346G>T (p.Ter449Leu) c.1118G>T (p.Ter373Leu) c.*937G>T (n.*937G>T) n.458G>T c.1070G>T (p.Ter357Leu) c.941G>T (p.Ter314Leu) | |
17 | g.1495824C= | CA2242889161 | INPP5K | c.1346G= (p.Ter449=) c.1118G= (p.Ter373=) c.*937G= (n.*937G=) n.458G= c.1070G= (p.Ter357=) c.941G= (p.Ter314=) | |
17 | g.1495824C>G | CA397535387 | INPP5K | c.1346G>C (p.Ter449Ser) c.1118G>C (p.Ter373Ser) c.*937G>C (n.*937G>C) n.458G>C c.1070G>C (p.Ter357Ser) c.941G>C (p.Ter314Ser) | |
17 | g.1495824C>T | CA497278558 | INPP5K | c.1346G>A (p.Ter449=) c.1118G>A (p.Ter373=) c.*937G>A (n.*937G>A) n.458G>A c.1070G>A (p.Ter357=) c.941G>A (p.Ter314=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.1495824_1495825del | CA2242889160 | INPP5K | c.1345_1346del (p.Ter449SerextTer?) c.1117_1118del (p.Ter373SerextTer?) c.*936_*937del (n.*936_*937del) n.457_458del c.1069_1070del (p.Ter357SerextTer?) c.940_941del (p.Ter314SerextTer?) | dbSNP |
17 | g.1495825A>C | CA397535389 | INPP5K | c.1345T>G (p.Ter449Gly) c.1117T>G (p.Ter373Gly) c.*936T>G (n.*936T>G) n.457T>G c.1069T>G (p.Ter357Gly) c.940T>G (p.Ter314Gly) | |
17 | g.1495825A>G | CA397535392 | INPP5K | c.1345T>C (p.Ter449Arg) c.1117T>C (p.Ter373Arg) c.*936T>C (n.*936T>C) n.457T>C c.1069T>C (p.Ter357Arg) c.940T>C (p.Ter314Arg) | |
17 | g.1495825A>T | CA397535395 | INPP5K | c.1345T>A (p.Ter449Arg) c.1117T>A (p.Ter373Arg) c.*936T>A (n.*936T>A) n.457T>A c.1069T>A (p.Ter357Arg) c.940T>A (p.Ter314Arg) | |
17 | g.1495826G>A | CA497278559 | INPP5K | c.1344C>T (p.Ile448=) c.1116C>T (p.Ile372=) c.*935C>T (n.*935C>T) n.456C>T c.1068C>T (p.Ile356=) c.939C>T (p.Ile313=) | |
17 | g.1495826G>C | CA397535398 | INPP5K | c.1344C>G (p.Ile448Met) c.1116C>G (p.Ile372Met) c.*935C>G (n.*935C>G) n.456C>G c.1068C>G (p.Ile356Met) c.939C>G (p.Ile313Met) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.1495826G= | CA2242889162 | INPP5K | c.1344C= (p.Ile448=) c.1116C= (p.Ile372=) c.*935C= (n.*935C=) n.456C= c.1068C= (p.Ile356=) c.939C= (p.Ile313=) | |
17 | g.1495826G>T | CA497278560 | INPP5K | c.1344C>A (p.Ile448=) c.1116C>A (p.Ile372=) c.*935C>A (n.*935C>A) n.456C>A c.1068C>A (p.Ile356=) c.939C>A (p.Ile313=) | |
17 | g.1495827A= | CA2242889163 | INPP5K | c.1343T= (p.Ile448=) c.1115T= (p.Ile372=) c.*934T= (n.*934T=) n.455T= c.1067T= (p.Ile356=) c.938T= (p.Ile313=) | |
17 | g.1495827A>C | CA397535402 | INPP5K | c.1343T>G (p.Ile448Ser) c.1115T>G (p.Ile372Ser) c.*934T>G (n.*934T>G) n.455T>G c.1067T>G (p.Ile356Ser) c.938T>G (p.Ile313Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1495827A>G | CA8268280 | INPP5K | c.1343T>C (p.Ile448Thr) c.1115T>C (p.Ile372Thr) c.*934T>C (n.*934T>C) n.455T>C c.1067T>C (p.Ile356Thr) c.938T>C (p.Ile313Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1495827A>T | CA397535407 | INPP5K | c.1343T>A (p.Ile448Asn) c.1115T>A (p.Ile372Asn) c.*934T>A (n.*934T>A) n.455T>A c.1067T>A (p.Ile356Asn) c.938T>A (p.Ile313Asn) | |
17 | g.1495828T>A | CA397535411 | INPP5K | c.1342A>T (p.Ile448Phe) c.1114A>T (p.Ile372Phe) c.*933A>T (n.*933A>T) n.454A>T c.1066A>T (p.Ile356Phe) c.937A>T (p.Ile313Phe) | |
17 | g.1495828T>C | CA397535417 | INPP5K | c.1342A>G (p.Ile448Val) c.1114A>G (p.Ile372Val) c.*933A>G (n.*933A>G) n.454A>G c.1066A>G (p.Ile356Val) c.937A>G (p.Ile313Val) | |
17 | g.1495828T>G | CA397535415 | INPP5K | c.1342A>C (p.Ile448Leu) c.1114A>C (p.Ile372Leu) c.*933A>C (n.*933A>C) n.454A>C c.1066A>C (p.Ile356Leu) c.937A>C (p.Ile313Leu) | |
17 | g.1495829C>A | CA397535419 | INPP5K | c.1341G>T (p.Gln447His) c.1113G>T (p.Gln371His) c.*932G>T (n.*932G>T) n.453G>T c.1065G>T (p.Gln355His) c.936G>T (p.Gln312His) | gnomAD v4 |
17 | g.1495829C= | CA2242889164 | INPP5K | c.1341G= (p.Gln447=) c.1113G= (p.Gln371=) c.*932G= (n.*932G=) n.453G= c.1065G= (p.Gln355=) c.936G= (p.Gln312=) | |
17 | g.1495829C>G | CA397535422 | INPP5K | c.1341G>C (p.Gln447His) c.1113G>C (p.Gln371His) c.*932G>C (n.*932G>C) n.453G>C c.1065G>C (p.Gln355His) c.936G>C (p.Gln312His) | |
17 | g.1495829C>T | CA286807461 | INPP5K | c.1341G>A (p.Gln447=) c.1113G>A (p.Gln371=) c.*932G>A (n.*932G>A) n.453G>A c.1065G>A (p.Gln355=) c.936G>A (p.Gln312=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1495830T>A | CA397535424 | INPP5K | c.1340A>T (p.Gln447Leu) c.1112A>T (p.Gln371Leu) c.*931A>T (n.*931A>T) n.452A>T c.1064A>T (p.Gln355Leu) c.935A>T (p.Gln312Leu) | |
17 | g.1495830T>C | CA8268281 | INPP5K | c.1340A>G (p.Gln447Arg) c.1112A>G (p.Gln371Arg) c.*931A>G (n.*931A>G) n.452A>G c.1064A>G (p.Gln355Arg) c.935A>G (p.Gln312Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.1495830T>G | CA397535427 | INPP5K | c.1340A>C (p.Gln447Pro) c.1112A>C (p.Gln371Pro) c.*931A>C (n.*931A>C) n.452A>C c.1064A>C (p.Gln355Pro) c.935A>C (p.Gln312Pro) | |
17 | g.1495830T= | CA2242889165 | INPP5K | c.1340A= (p.Gln447=) c.1112A= (p.Gln371=) c.*931A= (n.*931A=) n.452A= c.1064A= (p.Gln355=) c.935A= (p.Gln312=) | |
17 | g.1495831G>A | CA397535429 | INPP5K | c.1339C>T (p.Gln447Ter) c.1111C>T (p.Gln371Ter) c.*930C>T (n.*930C>T) n.451C>T c.1063C>T (p.Gln355Ter) c.934C>T (p.Gln312Ter) | |
17 | g.1495831G>C | CA397535432 | INPP5K | c.1339C>G (p.Gln447Glu) c.1111C>G (p.Gln371Glu) c.*930C>G (n.*930C>G) n.451C>G c.1063C>G (p.Gln355Glu) c.934C>G (p.Gln312Glu) | |
17 | g.1495831G>T | CA397535435 | INPP5K | c.1339C>A (p.Gln447Lys) c.1111C>A (p.Gln371Lys) c.*930C>A (n.*930C>A) n.451C>A c.1063C>A (p.Gln355Lys) c.934C>A (p.Gln312Lys) | |
17 | g.1495832T>A | CA497278561 | INPP5K | c.1338A>T (p.Pro446=) c.1110A>T (p.Pro370=) c.*929A>T (n.*929A>T) n.450A>T c.1062A>T (p.Pro354=) c.933A>T (p.Pro311=) | |
17 | g.1495832T>C | CA497278562 | INPP5K | c.1338A>G (p.Pro446=) c.1110A>G (p.Pro370=) c.*929A>G (n.*929A>G) n.450A>G c.1062A>G (p.Pro354=) c.933A>G (p.Pro311=) | |
17 | g.1495832T>G | CA497278564 | INPP5K | c.1338A>C (p.Pro446=) c.1110A>C (p.Pro370=) c.*929A>C (n.*929A>C) n.450A>C c.1062A>C (p.Pro354=) c.933A>C (p.Pro311=) | |
17 | g.1495833G>A | CA397535438 | INPP5K | c.1337C>T (p.Pro446Leu) c.1109C>T (p.Pro370Leu) c.*928C>T (n.*928C>T) n.449C>T c.1061C>T (p.Pro354Leu) c.932C>T (p.Pro311Leu) | |
17 | g.1495833G>C | CA397535440 | INPP5K | c.1337C>G (p.Pro446Arg) c.1109C>G (p.Pro370Arg) c.*928C>G (n.*928C>G) n.449C>G c.1061C>G (p.Pro354Arg) c.932C>G (p.Pro311Arg) | |
17 | g.1495833G>T | CA397535442 | INPP5K | c.1337C>A (p.Pro446Gln) c.1109C>A (p.Pro370Gln) c.*928C>A (n.*928C>A) n.449C>A c.1061C>A (p.Pro354Gln) c.932C>A (p.Pro311Gln) | |
17 | g.1495834G>A | CA397535445 | INPP5K | c.1336C>T (p.Pro446Ser) c.1108C>T (p.Pro370Ser) c.*927C>T (n.*927C>T) n.448C>T c.1060C>T (p.Pro354Ser) c.931C>T (p.Pro311Ser) | |
17 | g.1495834G>C | CA397535448 | INPP5K | c.1336C>G (p.Pro446Ala) c.1108C>G (p.Pro370Ala) c.*927C>G (n.*927C>G) n.448C>G c.1060C>G (p.Pro354Ala) c.931C>G (p.Pro311Ala) | |
17 | g.1495834G= | CA2242889166 | INPP5K | c.1336C= (p.Pro446=) c.1108C= (p.Pro370=) c.*927C= (n.*927C=) n.448C= c.1060C= (p.Pro354=) c.931C= (p.Pro311=) | |
17 | g.1495834G>T | CA8268282 | INPP5K | c.1336C>A (p.Pro446Thr) c.1108C>A (p.Pro370Thr) c.*927C>A (n.*927C>A) n.448C>A c.1060C>A (p.Pro354Thr) c.931C>A (p.Pro311Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.1495835C>A | CA397535452 | INPP5K | c.1335G>T (p.Gln445His) c.1107G>T (p.Gln369His) c.*926G>T (n.*926G>T) n.447G>T c.1059G>T (p.Gln353His) c.930G>T (p.Gln310His) | |
17 | g.1495835C= | CA2242889167 | INPP5K | c.1335G= (p.Gln445=) c.1107G= (p.Gln369=) c.*926G= (n.*926G=) n.447G= c.1059G= (p.Gln353=) c.930G= (p.Gln310=) | |
17 | g.1495835C>G | CA397535454 | INPP5K | c.1335G>C (p.Gln445His) c.1107G>C (p.Gln369His) c.*926G>C (n.*926G>C) n.447G>C c.1059G>C (p.Gln353His) c.930G>C (p.Gln310His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1495835C>T | CA497278565 | INPP5K | c.1335G>A (p.Gln445=) c.1107G>A (p.Gln369=) c.*926G>A (n.*926G>A) n.447G>A c.1059G>A (p.Gln353=) c.930G>A (p.Gln310=) | |
17 | g.1495836T>A | CA397535457 | INPP5K | c.1334A>T (p.Gln445Leu) c.1106A>T (p.Gln369Leu) c.*925A>T (n.*925A>T) n.446A>T c.1058A>T (p.Gln353Leu) c.929A>T (p.Gln310Leu) | |
17 | g.1495836T>C | CA397535459 | INPP5K | c.1334A>G (p.Gln445Arg) c.1106A>G (p.Gln369Arg) c.*925A>G (n.*925A>G) n.446A>G c.1058A>G (p.Gln353Arg) c.929A>G (p.Gln310Arg) | |
17 | g.1495836T>G | CA397535461 | INPP5K | c.1334A>C (p.Gln445Pro) c.1106A>C (p.Gln369Pro) c.*925A>C (n.*925A>C) n.446A>C c.1058A>C (p.Gln353Pro) c.929A>C (p.Gln310Pro) | |
17 | g.1495837G>A | CA8268283 | INPP5K | c.1333C>T (p.Gln445Ter) c.1105C>T (p.Gln369Ter) c.*924C>T (n.*924C>T) n.445C>T c.1057C>T (p.Gln353Ter) c.928C>T (p.Gln310Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.1495837G>C | CA397535465 | INPP5K | c.1333C>G (p.Gln445Glu) c.1105C>G (p.Gln369Glu) c.*924C>G (n.*924C>G) n.445C>G c.1057C>G (p.Gln353Glu) c.928C>G (p.Gln310Glu) | |
17 | g.1495837G= | CA2242889168 | INPP5K | c.1333C= (p.Gln445=) c.1105C= (p.Gln369=) c.*924C= (n.*924C=) n.445C= c.1057C= (p.Gln353=) c.928C= (p.Gln310=) | |
17 | g.1495837G>T | CA397535467 | INPP5K | c.1333C>A (p.Gln445Lys) c.1105C>A (p.Gln369Lys) c.*924C>A (n.*924C>A) n.445C>A c.1057C>A (p.Gln353Lys) c.928C>A (p.Gln310Lys) | gnomAD v4 |
17 | g.1495838T>A | CA497278566 | INPP5K | c.1332A>T (p.Ala444=) c.1104A>T (p.Ala368=) c.*923A>T (n.*923A>T) n.444A>T c.1056A>T (p.Ala352=) c.927A>T (p.Ala309=) | |
17 | g.1495838T>C | CA497278567 | INPP5K | c.1332A>G (p.Ala444=) c.1104A>G (p.Ala368=) c.*923A>G (n.*923A>G) n.444A>G c.1056A>G (p.Ala352=) c.927A>G (p.Ala309=) | |
17 | g.1495838T>G | CA497278568 | INPP5K | c.1332A>C (p.Ala444=) c.1104A>C (p.Ala368=) c.*923A>C (n.*923A>C) n.444A>C c.1056A>C (p.Ala352=) c.927A>C (p.Ala309=) | |
17 | g.1495839G>A | CA397535471 | INPP5K | c.1331C>T (p.Ala444Val) c.1103C>T (p.Ala368Val) c.*922C>T (n.*922C>T) n.443C>T c.1055C>T (p.Ala352Val) c.926C>T (p.Ala309Val) | |
17 | g.1495839G>C | CA397535473 | INPP5K | c.1331C>G (p.Ala444Gly) c.1103C>G (p.Ala368Gly) c.*922C>G (n.*922C>G) n.443C>G c.1055C>G (p.Ala352Gly) c.926C>G (p.Ala309Gly) | |
17 | g.1495839G>T | CA397535476 | INPP5K | c.1331C>A (p.Ala444Glu) c.1103C>A (p.Ala368Glu) c.*922C>A (n.*922C>A) n.443C>A c.1055C>A (p.Ala352Glu) c.926C>A (p.Ala309Glu) | |
17 | g.1495840C>A | CA397535479 | INPP5K | c.1330G>T (p.Ala444Ser) c.1102G>T (p.Ala368Ser) c.*921G>T (n.*921G>T) n.442G>T c.1054G>T (p.Ala352Ser) c.925G>T (p.Ala309Ser) | |
17 | g.1495840C= | CA2242889169 | INPP5K | c.1330G= (p.Ala444=) c.1102G= (p.Ala368=) c.*921G= (n.*921G=) n.442G= c.1054G= (p.Ala352=) c.925G= (p.Ala309=) | |
17 | g.1495840C>G | CA397535485 | INPP5K | c.1330G>C (p.Ala444Pro) c.1102G>C (p.Ala368Pro) c.*921G>C (n.*921G>C) n.442G>C c.1054G>C (p.Ala352Pro) c.925G>C (p.Ala309Pro) | dbSNP gnomAD v4 |
17 | g.1495840C>T | CA397535486 | INPP5K | c.1330G>A (p.Ala444Thr) c.1102G>A (p.Ala368Thr) c.*921G>A (n.*921G>A) n.442G>A c.1054G>A (p.Ala352Thr) c.925G>A (p.Ala309Thr) | |
17 | g.1495841T>A | CA397535497 | INPP5K | c.1329A>T (p.Glu443Asp) c.1101A>T (p.Glu367Asp) c.*920A>T (n.*920A>T) n.441A>T c.1053A>T (p.Glu351Asp) c.924A>T (p.Glu308Asp) | |
17 | g.1495841T>C | CA497278569 | INPP5K | c.1329A>G (p.Glu443=) c.1101A>G (p.Glu367=) c.*920A>G (n.*920A>G) n.441A>G c.1053A>G (p.Glu351=) c.924A>G (p.Glu308=) | |
17 | g.1495841T>G | CA397535494 | INPP5K | c.1329A>C (p.Glu443Asp) c.1101A>C (p.Glu367Asp) c.*920A>C (n.*920A>C) n.441A>C c.1053A>C (p.Glu351Asp) c.924A>C (p.Glu308Asp) | |
17 | g.1495842T>A | CA397535500 | INPP5K | c.1328A>T (p.Glu443Val) c.1100A>T (p.Glu367Val) c.*919A>T (n.*919A>T) n.440A>T c.1052A>T (p.Glu351Val) c.923A>T (p.Glu308Val) | |
17 | g.1495842T>C | CA397535506 | INPP5K | c.1328A>G (p.Glu443Gly) c.1100A>G (p.Glu367Gly) c.*919A>G (n.*919A>G) n.440A>G c.1052A>G (p.Glu351Gly) c.923A>G (p.Glu308Gly) | |
17 | g.1495842T>G | CA397535503 | INPP5K | c.1328A>C (p.Glu443Ala) c.1100A>C (p.Glu367Ala) c.*919A>C (n.*919A>C) n.440A>C c.1052A>C (p.Glu351Ala) c.923A>C (p.Glu308Ala) | |
17 | g.1495843C>A | CA397535509 | INPP5K | c.1327G>T (p.Glu443Ter) c.1099G>T (p.Glu367Ter) c.*918G>T (n.*918G>T) n.439G>T c.1051G>T (p.Glu351Ter) c.922G>T (p.Glu308Ter) | |
17 | g.1495843C>G | CA397535514 | INPP5K | c.1327G>C (p.Glu443Gln) c.1099G>C (p.Glu367Gln) c.*918G>C (n.*918G>C) n.439G>C c.1051G>C (p.Glu351Gln) c.922G>C (p.Glu308Gln) | |
17 | g.1495843C>T | CA397535512 | INPP5K | c.1327G>A (p.Glu443Lys) c.1099G>A (p.Glu367Lys) c.*918G>A (n.*918G>A) n.439G>A c.1051G>A (p.Glu351Lys) c.922G>A (p.Glu308Lys) | |
17 | g.1495844A>C | CA497278570 | INPP5K | c.1326T>G (p.Gly442=) c.1098T>G (p.Gly366=) c.*917T>G (n.*917T>G) n.438T>G c.1050T>G (p.Gly350=) c.921T>G (p.Gly307=) | |
17 | g.1495844A>G | CA497278571 | INPP5K | c.1326T>C (p.Gly442=) c.1098T>C (p.Gly366=) c.*917T>C (n.*917T>C) n.438T>C c.1050T>C (p.Gly350=) c.921T>C (p.Gly307=) | |
17 | g.1495844A>T | CA497278572 | INPP5K | c.1326T>A (p.Gly442=) c.1098T>A (p.Gly366=) c.*917T>A (n.*917T>A) n.438T>A c.1050T>A (p.Gly350=) c.921T>A (p.Gly307=) | |
17 | g.1495845C>A | CA397535519 | INPP5K | c.1325G>T (p.Gly442Val) c.1097G>T (p.Gly366Val) c.*916G>T (n.*916G>T) n.437G>T c.1049G>T (p.Gly350Val) c.920G>T (p.Gly307Val) | |
17 | g.1495845C= | CA2242889170 | INPP5K | c.1325G= (p.Gly442=) c.1097G= (p.Gly366=) c.*916G= (n.*916G=) n.437G= c.1049G= (p.Gly350=) c.920G= (p.Gly307=) | |
17 | g.1495845C>G | CA397535529 | INPP5K | c.1325G>C (p.Gly442Ala) c.1097G>C (p.Gly366Ala) c.*916G>C (n.*916G>C) n.437G>C c.1049G>C (p.Gly350Ala) c.920G>C (p.Gly307Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1495845C>T | CA397535525 | INPP5K | c.1325G>A (p.Gly442Asp) c.1097G>A (p.Gly366Asp) c.*916G>A (n.*916G>A) n.437G>A c.1049G>A (p.Gly350Asp) c.920G>A (p.Gly307Asp) | |
17 | g.1495846C>A | CA397535532 | INPP5K | c.1324G>T (p.Gly442Cys) c.1096G>T (p.Gly366Cys) c.*915G>T (n.*915G>T) n.436G>T c.1048G>T (p.Gly350Cys) c.919G>T (p.Gly307Cys) | |
17 | g.1495846C= | CA2242889171 | INPP5K | c.1324G= (p.Gly442=) c.1096G= (p.Gly366=) c.*915G= (n.*915G=) n.436G= c.1048G= (p.Gly350=) c.919G= (p.Gly307=) | |
17 | g.1495846C>G | CA397535537 | INPP5K | c.1324G>C (p.Gly442Arg) c.1096G>C (p.Gly366Arg) c.*915G>C (n.*915G>C) n.436G>C c.1048G>C (p.Gly350Arg) c.919G>C (p.Gly307Arg) | |
17 | g.1495846C>T | CA397535535 | INPP5K | c.1324G>A (p.Gly442Ser) c.1096G>A (p.Gly366Ser) c.*915G>A (n.*915G>A) n.436G>A c.1048G>A (p.Gly350Ser) c.919G>A (p.Gly307Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1495847C>A | CA497278573 | INPP5K | c.1323G>T (p.Leu441=) c.1095G>T (p.Leu365=) c.*914G>T (n.*914G>T) n.435G>T c.1047G>T (p.Leu349=) c.918G>T (p.Leu306=) | COSMIC COSMIC |
17 | g.1495847C= | CA2242889172 | INPP5K | c.1323G= (p.Leu441=) c.1095G= (p.Leu365=) c.*914G= (n.*914G=) n.435G= c.1047G= (p.Leu349=) c.918G= (p.Leu306=) | |
17 | g.1495847C>G | CA497278574 | INPP5K | c.1323G>C (p.Leu441=) c.1095G>C (p.Leu365=) c.*914G>C (n.*914G>C) n.435G>C c.1047G>C (p.Leu349=) c.918G>C (p.Leu306=) | |
17 | g.1495847C>T | CA8268284 | INPP5K | c.1323G>A (p.Leu441=) c.1095G>A (p.Leu365=) c.*914G>A (n.*914G>A) n.435G>A c.1047G>A (p.Leu349=) c.918G>A (p.Leu306=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.1495848A>C | CA397535546 | INPP5K | c.1322T>G (p.Leu441Arg) c.1094T>G (p.Leu365Arg) c.*913T>G (n.*913T>G) n.434T>G c.1046T>G (p.Leu349Arg) c.917T>G (p.Leu306Arg) | |
17 | g.1495848A>G | CA397535541 | INPP5K | c.1322T>C (p.Leu441Pro) c.1094T>C (p.Leu365Pro) c.*913T>C (n.*913T>C) n.434T>C c.1046T>C (p.Leu349Pro) c.917T>C (p.Leu306Pro) | gnomAD v4 |
17 | g.1495848A>T | CA397535543 | INPP5K | c.1322T>A (p.Leu441Gln) c.1094T>A (p.Leu365Gln) c.*913T>A (n.*913T>A) n.434T>A c.1046T>A (p.Leu349Gln) c.917T>A (p.Leu306Gln) | |
17 | g.1495849G>A | CA497278575 | INPP5K | c.1321C>T (p.Leu441=) c.1093C>T (p.Leu365=) c.*912C>T (n.*912C>T) n.433C>T c.1045C>T (p.Leu349=) c.916C>T (p.Leu306=) | gnomAD v4 |
17 | g.1495849G>C | CA397535548 | INPP5K | c.1321C>G (p.Leu441Val) c.1093C>G (p.Leu365Val) c.*912C>G (n.*912C>G) n.433C>G c.1045C>G (p.Leu349Val) c.916C>G (p.Leu306Val) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.1495849G= | CA2242889173 | INPP5K | c.1321C= (p.Leu441=) c.1093C= (p.Leu365=) c.*912C= (n.*912C=) n.433C= c.1045C= (p.Leu349=) c.916C= (p.Leu306=) | |
17 | g.1495849G>T | CA8268285 | INPP5K | c.1321C>A (p.Leu441Met) c.1093C>A (p.Leu365Met) c.*912C>A (n.*912C>A) n.433C>A c.1045C>A (p.Leu349Met) c.916C>A (p.Leu306Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1495850T>A | CA497278576 | INPP5K | c.1320A>T (p.Pro440=) c.1092A>T (p.Pro364=) c.*911A>T (n.*911A>T) n.432A>T c.1044A>T (p.Pro348=) c.915A>T (p.Pro305=) | |
17 | g.1495850T>C | CA497278577 | INPP5K | c.1320A>G (p.Pro440=) c.1092A>G (p.Pro364=) c.*911A>G (n.*911A>G) n.432A>G c.1044A>G (p.Pro348=) c.915A>G (p.Pro305=) | gnomAD v4 |
17 | g.1495850T>G | CA497278578 | INPP5K | c.1320A>C (p.Pro440=) c.1092A>C (p.Pro364=) c.*911A>C (n.*911A>C) n.432A>C c.1044A>C (p.Pro348=) c.915A>C (p.Pro305=) | |
17 | g.1495851G>A | CA397535556 | INPP5K | c.1319C>T (p.Pro440Leu) c.1091C>T (p.Pro364Leu) c.*910C>T (n.*910C>T) n.431C>T c.1043C>T (p.Pro348Leu) c.914C>T (p.Pro305Leu) | |
17 | g.1495851G>C | CA397535558 | INPP5K | c.1319C>G (p.Pro440Arg) c.1091C>G (p.Pro364Arg) c.*910C>G (n.*910C>G) n.431C>G c.1043C>G (p.Pro348Arg) c.914C>G (p.Pro305Arg) | |
17 | g.1495851G>T | CA397535567 | INPP5K | c.1319C>A (p.Pro440Gln) c.1091C>A (p.Pro364Gln) c.*910C>A (n.*910C>A) n.431C>A c.1043C>A (p.Pro348Gln) c.914C>A (p.Pro305Gln) | |
17 | g.1495852G>A | CA397535580 | INPP5K | c.1318C>T (p.Pro440Ser) c.1090C>T (p.Pro364Ser) c.*909C>T (n.*909C>T) n.430C>T c.1042C>T (p.Pro348Ser) c.913C>T (p.Pro305Ser) | |
17 | g.1495852G>C | CA397535572 | INPP5K | c.1318C>G (p.Pro440Ala) c.1090C>G (p.Pro364Ala) c.*909C>G (n.*909C>G) n.430C>G c.1042C>G (p.Pro348Ala) c.913C>G (p.Pro305Ala) | |
17 | g.1495852G>T | CA397535577 | INPP5K | c.1318C>A (p.Pro440Thr) c.1090C>A (p.Pro364Thr) c.*909C>A (n.*909C>A) n.430C>A c.1042C>A (p.Pro348Thr) c.913C>A (p.Pro305Thr) | |
17 | g.1495853G>A | CA497278579 | INPP5K | c.1317C>T (p.Asp439=) c.1089C>T (p.Asp363=) c.*908C>T (n.*908C>T) n.429C>T c.1041C>T (p.Asp347=) c.912C>T (p.Asp304=) | gnomAD v4 |
17 | g.1495853G>C | CA397535582 | INPP5K | c.1317C>G (p.Asp439Glu) c.1089C>G (p.Asp363Glu) c.*908C>G (n.*908C>G) n.429C>G c.1041C>G (p.Asp347Glu) c.912C>G (p.Asp304Glu) | |
17 | g.1495853G>T | CA397535583 | INPP5K | c.1317C>A (p.Asp439Glu) c.1089C>A (p.Asp363Glu) c.*908C>A (n.*908C>A) n.429C>A c.1041C>A (p.Asp347Glu) c.912C>A (p.Asp304Glu) | gnomAD v4 |
17 | g.1495854T>A | CA397535584 | INPP5K | c.1316A>T (p.Asp439Val) c.1088A>T (p.Asp363Val) c.*907A>T (n.*907A>T) n.428A>T c.1040A>T (p.Asp347Val) c.911A>T (p.Asp304Val) | |
17 | g.1495854T>C | CA397535585 | INPP5K | c.1316A>G (p.Asp439Gly) c.1088A>G (p.Asp363Gly) c.*907A>G (n.*907A>G) n.428A>G c.1040A>G (p.Asp347Gly) c.911A>G (p.Asp304Gly) | |
17 | g.1495854T>G | CA397535586 | INPP5K | c.1316A>C (p.Asp439Ala) c.1088A>C (p.Asp363Ala) c.*907A>C (n.*907A>C) n.428A>C c.1040A>C (p.Asp347Ala) c.911A>C (p.Asp304Ala) | |
17 | g.1495855C>A | CA397535588 | INPP5K | c.1315G>T (p.Asp439Tyr) c.1087G>T (p.Asp363Tyr) c.*906G>T (n.*906G>T) n.427G>T c.1039G>T (p.Asp347Tyr) c.910G>T (p.Asp304Tyr) | |
17 | g.1495855C= | CA2242889174 | INPP5K | c.1315G= (p.Asp439=) c.1087G= (p.Asp363=) c.*906G= (n.*906G=) n.427G= c.1039G= (p.Asp347=) c.910G= (p.Asp304=) | |
17 | g.1495855C>G | CA397535592 | INPP5K | c.1315G>C (p.Asp439His) c.1087G>C (p.Asp363His) c.*906G>C (n.*906G>C) n.427G>C c.1039G>C (p.Asp347His) c.910G>C (p.Asp304His) | COSMIC COSMIC |
17 | g.1495855C>T | CA397535590 | INPP5K | c.1315G>A (p.Asp439Asn) c.1087G>A (p.Asp363Asn) c.*906G>A (n.*906G>A) n.427G>A c.1039G>A (p.Asp347Asn) c.910G>A (p.Asp304Asn) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.1495856C>A | CA397535595 | INPP5K | c.1314G>T (p.Glu438Asp) c.1086G>T (p.Glu362Asp) c.*905G>T (n.*905G>T) n.426G>T c.1038G>T (p.Glu346Asp) c.909G>T (p.Glu303Asp) | |
17 | g.1495856C= | CA2242889175 | INPP5K | c.1314G= (p.Glu438=) c.1086G= (p.Glu362=) c.*905G= (n.*905G=) n.426G= c.1038G= (p.Glu346=) c.909G= (p.Glu303=) | |
17 | g.1495856C>G | CA397535597 | INPP5K | c.1314G>C (p.Glu438Asp) c.1086G>C (p.Glu362Asp) c.*905G>C (n.*905G>C) n.426G>C c.1038G>C (p.Glu346Asp) c.909G>C (p.Glu303Asp) | |
17 | g.1495856C>T | CA497278580 | INPP5K | c.1314G>A (p.Glu438=) c.1086G>A (p.Glu362=) c.*905G>A (n.*905G>A) n.426G>A c.1038G>A (p.Glu346=) c.909G>A (p.Glu303=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.1495857T>A | CA397535602 | INPP5K | c.1313A>T (p.Glu438Val) c.1085A>T (p.Glu362Val) c.*904A>T (n.*904A>T) n.425A>T c.1037A>T (p.Glu346Val) c.908A>T (p.Glu303Val) | |
17 | g.1495857T>C | CA397535605 | INPP5K | c.1313A>G (p.Glu438Gly) c.1085A>G (p.Glu362Gly) c.*904A>G (n.*904A>G) n.425A>G c.1037A>G (p.Glu346Gly) c.908A>G (p.Glu303Gly) | |
17 | g.1495857T>G | CA397535608 | INPP5K | c.1313A>C (p.Glu438Ala) c.1085A>C (p.Glu362Ala) c.*904A>C (n.*904A>C) n.425A>C c.1037A>C (p.Glu346Ala) c.908A>C (p.Glu303Ala) | |
17 | g.1495858C>A | CA397535612 | INPP5K | c.1312G>T (p.Glu438Ter) c.1084G>T (p.Glu362Ter) c.*903G>T (n.*903G>T) n.424G>T c.1036G>T (p.Glu346Ter) c.907G>T (p.Glu303Ter) | gnomAD v4 |
17 | g.1495858C>G | CA397535614 | INPP5K | c.1312G>C (p.Glu438Gln) c.1084G>C (p.Glu362Gln) c.*903G>C (n.*903G>C) n.424G>C c.1036G>C (p.Glu346Gln) c.907G>C (p.Glu303Gln) | |
17 | g.1495858C>T | CA397535617 | INPP5K | c.1312G>A (p.Glu438Lys) c.1084G>A (p.Glu362Lys) c.*903G>A (n.*903G>A) n.424G>A c.1036G>A (p.Glu346Lys) c.907G>A (p.Glu303Lys) | |
17 | g.1495859C>A | CA397535620 | INPP5K | c.1311G>T (p.Arg437Ser) c.1083G>T (p.Arg361Ser) c.*902G>T (n.*902G>T) n.423G>T c.1035G>T (p.Arg345Ser) c.906G>T (p.Arg302Ser) | |
17 | g.1495859C= | CA2242889176 | INPP5K | c.1311G= (p.Arg437=) c.1083G= (p.Arg361=) c.*902G= (n.*902G=) n.423G= c.1035G= (p.Arg345=) c.906G= (p.Arg302=) | |
17 | g.1495859C>G | CA397535638 | INPP5K | c.1311G>C (p.Arg437Ser) c.1083G>C (p.Arg361Ser) c.*902G>C (n.*902G>C) n.423G>C c.1035G>C (p.Arg345Ser) c.906G>C (p.Arg302Ser) | |
17 | g.1495859C>T | CA8268286 | INPP5K | c.1311G>A (p.Arg437=) c.1083G>A (p.Arg361=) c.*902G>A (n.*902G>A) n.423G>A c.1035G>A (p.Arg345=) c.906G>A (p.Arg302=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1495860C>A | CA397535643 | INPP5K | c.1310G>T (p.Arg437Met) c.1082G>T (p.Arg361Met) c.*901G>T (n.*901G>T) n.422G>T c.1034G>T (p.Arg345Met) c.905G>T (p.Arg302Met) | |
17 | g.1495860C= | CA2242889177 | INPP5K | c.1310G= (p.Arg437=) c.1082G= (p.Arg361=) c.*901G= (n.*901G=) n.422G= c.1034G= (p.Arg345=) c.905G= (p.Arg302=) | |
17 | g.1495860C>G | CA397535650 | INPP5K | c.1310G>C (p.Arg437Thr) c.1082G>C (p.Arg361Thr) c.*901G>C (n.*901G>C) n.422G>C c.1034G>C (p.Arg345Thr) c.905G>C (p.Arg302Thr) | |
17 | g.1495860C>T | CA397535645 | INPP5K | c.1310G>A (p.Arg437Lys) c.1082G>A (p.Arg361Lys) c.*901G>A (n.*901G>A) n.422G>A c.1034G>A (p.Arg345Lys) c.905G>A (p.Arg302Lys) | dbSNP |
17 | g.1495861T>A | CA397535671 | INPP5K | c.1309A>T (p.Arg437Trp) c.1081A>T (p.Arg361Trp) c.*900A>T (n.*900A>T) n.421A>T c.1033A>T (p.Arg345Trp) c.904A>T (p.Arg302Trp) | |
17 | g.1495861T>C | CA397535673 | INPP5K | c.1309A>G (p.Arg437Gly) c.1081A>G (p.Arg361Gly) c.*900A>G (n.*900A>G) n.421A>G c.1033A>G (p.Arg345Gly) c.904A>G (p.Arg302Gly) | dbSNP gnomAD v4 |
17 | g.1495861T>G | CA497278581 | INPP5K | c.1309A>C (p.Arg437=) c.1081A>C (p.Arg361=) c.*900A>C (n.*900A>C) n.421A>C c.1033A>C (p.Arg345=) c.904A>C (p.Arg302=) | |
17 | g.1495861T= | CA2242889178 | INPP5K | c.1309A= (p.Arg437=) c.1081A= (p.Arg361=) c.*900A= (n.*900A=) n.421A= c.1033A= (p.Arg345=) c.904A= (p.Arg302=) | |
17 | g.1495862C>A | CA397535679 | INPP5K | c.1308G>T (p.Leu436Phe) c.1080G>T (p.Leu360Phe) c.*899G>T (n.*899G>T) n.420G>T c.1032G>T (p.Leu344Phe) c.903G>T (p.Leu301Phe) | |
17 | g.1495862C= | CA2242889179 | INPP5K | c.1308G= (p.Leu436=) c.1080G= (p.Leu360=) c.*899G= (n.*899G=) n.420G= c.1032G= (p.Leu344=) c.903G= (p.Leu301=) | |
17 | g.1495862C>G | CA397535684 | INPP5K | c.1308G>C (p.Leu436Phe) c.1080G>C (p.Leu360Phe) c.*899G>C (n.*899G>C) n.420G>C c.1032G>C (p.Leu344Phe) c.903G>C (p.Leu301Phe) | gnomAD v4 COSMIC COSMIC |
17 | g.1495862C>T | CA497278582 | INPP5K | c.1308G>A (p.Leu436=) c.1080G>A (p.Leu360=) c.*899G>A (n.*899G>A) n.420G>A c.1032G>A (p.Leu344=) c.903G>A (p.Leu301=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.1495863A>C | CA397535690 | INPP5K | c.1307T>G (p.Leu436Trp) c.1079T>G (p.Leu360Trp) c.*898T>G (n.*898T>G) n.419T>G c.1031T>G (p.Leu344Trp) c.902T>G (p.Leu301Trp) | |
17 | g.1495863A>G | CA397535693 | INPP5K | c.1307T>C (p.Leu436Ser) c.1079T>C (p.Leu360Ser) c.*898T>C (n.*898T>C) n.419T>C c.1031T>C (p.Leu344Ser) c.902T>C (p.Leu301Ser) | |
17 | g.1495863A>T | CA397535697 | INPP5K | c.1307T>A (p.Leu436Ter) c.1079T>A (p.Leu360Ter) c.*898T>A (n.*898T>A) n.419T>A c.1031T>A (p.Leu344Ter) c.902T>A (p.Leu301Ter) | |
17 | g.1495864A= | CA2242889180 | INPP5K | c.1306T= (p.Leu436=) c.1078T= (p.Leu360=) c.*897T= (n.*897T=) n.418T= c.1030T= (p.Leu344=) c.901T= (p.Leu301=) | |
17 | g.1495864A>C | CA397535699 | INPP5K | c.1306T>G (p.Leu436Val) c.1078T>G (p.Leu360Val) c.*897T>G (n.*897T>G) n.418T>G c.1030T>G (p.Leu344Val) c.901T>G (p.Leu301Val) | |
17 | g.1495864A>G | CA497278583 | INPP5K | c.1306T>C (p.Leu436=) c.1078T>C (p.Leu360=) c.*897T>C (n.*897T>C) n.418T>C c.1030T>C (p.Leu344=) c.901T>C (p.Leu301=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.1495864A>T | CA397535710 | INPP5K | c.1306T>A (p.Leu436Met) c.1078T>A (p.Leu360Met) c.*897T>A (n.*897T>A) n.418T>A c.1030T>A (p.Leu344Met) c.901T>A (p.Leu301Met) | |
17 | g.1495865G>A | CA497278584 | INPP5K | c.1305C>T (p.Ser435=) c.1077C>T (p.Ser359=) c.*896C>T (n.*896C>T) n.417C>T c.1029C>T (p.Ser343=) c.900C>T (p.Ser300=) | |
17 | g.1495865G>C | CA497278586 | INPP5K | c.1305C>G (p.Ser435=) c.1077C>G (p.Ser359=) c.*896C>G (n.*896C>G) n.417C>G c.1029C>G (p.Ser343=) c.900C>G (p.Ser300=) | |
17 | g.1495865G>T | CA497278585 | INPP5K | c.1305C>A (p.Ser435=) c.1077C>A (p.Ser359=) c.*896C>A (n.*896C>A) n.417C>A c.1029C>A (p.Ser343=) c.900C>A (p.Ser300=) | |
17 | g.1495866G>A | CA397535712 | INPP5K | c.1304C>T (p.Ser435Phe) c.1076C>T (p.Ser359Phe) c.*895C>T (n.*895C>T) n.416C>T c.1028C>T (p.Ser343Phe) c.899C>T (p.Ser300Phe) | dbSNP |
17 | g.1495866G>C | CA8268287 | INPP5K | c.1304C>G (p.Ser435Cys) c.1076C>G (p.Ser359Cys) c.*895C>G (n.*895C>G) n.416C>G c.1028C>G (p.Ser343Cys) c.899C>G (p.Ser300Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.1495866G= | CA2242889181 | INPP5K | c.1304C= (p.Ser435=) c.1076C= (p.Ser359=) c.*895C= (n.*895C=) n.416C= c.1028C= (p.Ser343=) c.899C= (p.Ser300=) | |
17 | g.1495866G>T | CA397535715 | INPP5K | c.1304C>A (p.Ser435Tyr) c.1076C>A (p.Ser359Tyr) c.*895C>A (n.*895C>A) n.416C>A c.1028C>A (p.Ser343Tyr) c.899C>A (p.Ser300Tyr) |