Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.1495773G>ACA8268270INPP5Kc.*50C>T (n.*50C>T)
c.*988C>T (n.*988C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1495773G>CCA8268269INPP5Kc.*50C>G (n.*50C>G)
c.*988C>G (n.*988C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1495773G=CA2242889129INPP5Kc.*50C= (n.*50C=)
c.*988C= (n.*988C=)
17g.1495773G>TCA2635219031INPP5Kc.*50C>A (n.*50C>A)
c.*988C>A (n.*988C>A)
 gnomAD v4
17g.1495774A=CA2242889130INPP5Kc.*49T= (n.*49T=)
c.*987T= (n.*987T=)
17g.1495774A>GCA2635219033INPP5Kc.*49T>C (n.*49T>C)
c.*987T>C (n.*987T>C)
 gnomAD v4
17g.1495774A>TCA8268271INPP5Kc.*49T>A (n.*49T>A)
c.*987T>A (n.*987T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1495775G>TCA2635219036INPP5Kc.*48C>A (n.*48C>A)
c.*986C>A (n.*986C>A)
 gnomAD v4
17g.1495776C>ACA2635219040INPP5Kc.*47G>T (n.*47G>T)
c.*985G>T (n.*985G>T)
 gnomAD v4
17g.1495776C>TCA2635219041INPP5Kc.*47G>A (n.*47G>A)
c.*985G>A (n.*985G>A)
 gnomAD v4
17g.1495781_1495793delCA2635219039INPP5Kc.*35_*47del (n.*35_*47del)
c.*973_*985del (n.*973_*985del)
 gnomAD v4
17g.1495777T>CCA2635219044INPP5Kc.*46A>G (n.*46A>G)
c.*984A>G (n.*984A>G)
 gnomAD v4
17g.1495778G>ACA286807420INPP5Kc.*45C>T (n.*45C>T)
c.*983C>T (n.*983C>T)
 dbSNP
17g.1495778G=CA2242889131INPP5Kc.*45C= (n.*45C=)
c.*983C= (n.*983C=)
17g.1495778G>TCA2576110810INPP5Kc.*45C>A (n.*45C>A)
c.*983C>A (n.*983C>A)
 gnomAD v4
17g.1495779delCA2635219045INPP5Kc.*45del (n.*45del)
c.*983del (n.*983del)
 gnomAD v4
17g.1495779G>ACA8268272INPP5Kc.*44C>T (n.*44C>T)
c.*982C>T (n.*982C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1495779G=CA2242889133INPP5Kc.*44C= (n.*44C=)
c.*982C= (n.*982C=)
17g.1495779G>TCA2635219046INPP5Kc.*44C>A (n.*44C>A)
c.*982C>A (n.*982C>A)
 gnomAD v4
17g.1495779_1495780delinsAGCA286807427INPP5Kc.*43_*44delinsCT (n.*43_*44delinsCT)
c.*981_*982delinsCT (n.*981_*982delinsCT)
 dbSNP
17g.1495779_1495780delinsGCCA2242889132INPP5Kc.*43_*44delinsGC (n.*43_*44delinsGC)
c.*981_*982delinsGC (n.*981_*982delinsGC)
17g.1495780C=CA2242889134INPP5Kc.*43G= (n.*43G=)
c.*981G= (n.*981G=)
17g.1495780C>GCA8268273INPP5Kc.*43G>C (n.*43G>C)
c.*981G>C (n.*981G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1495780C>TCA2635219048INPP5Kc.*43G>A (n.*43G>A)
c.*981G>A (n.*981G>A)
 gnomAD v4
17g.1495781T>ACA2576110811INPP5Kc.*42A>T (n.*42A>T)
c.*980A>T (n.*980A>T)
 gnomAD v4
17g.1495781T>CCA2635219049INPP5Kc.*42A>G (n.*42A>G)
c.*980A>G (n.*980A>G)
 gnomAD v4
17g.1495782G>ACA2635219050INPP5Kc.*41C>T (n.*41C>T)
c.*979C>T (n.*979C>T)
 gnomAD v4
17g.1495782G>TCA2635219051INPP5Kc.*41C>A (n.*41C>A)
c.*979C>A (n.*979C>A)
 gnomAD v4
17g.1495783C>ACA2635219052INPP5Kc.*40G>T (n.*40G>T)
c.*978G>T (n.*978G>T)
 gnomAD v4
17g.1495783C=CA2242889135INPP5Kc.*40G= (n.*40G=)
c.*978G= (n.*978G=)
17g.1495783C>GCA8268274INPP5Kc.*40G>C (n.*40G>C)
c.*978G>C (n.*978G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.1495783C>TCA2576110812INPP5Kc.*40G>A (n.*40G>A)
c.*978G>A (n.*978G>A)
 gnomAD v4
17g.1495784C>ACA2635219053INPP5Kc.*39G>T (n.*39G>T)
c.*977G>T (n.*977G>T)
 gnomAD v4
17g.1495784C>TCA2576110813INPP5Kc.*39G>A (n.*39G>A)
c.*977G>A (n.*977G>A)
 gnomAD v4
17g.1495785A=CA2242889136INPP5Kc.*38T= (n.*38T=)
c.*976T= (n.*976T=)
17g.1495785A>CCA2242889137INPP5Kc.*38T>G (n.*38T>G)
c.*976T>G (n.*976T>G)
 dbSNP
17g.1495786G>ACA2242889139INPP5Kc.*37C>T (n.*37C>T)
c.*975C>T (n.*975C>T)
 dbSNP gnomAD v4
17g.1495786G=CA2242889138INPP5Kc.*37C= (n.*37C=)
c.*975C= (n.*975C=)
17g.1495786G>TCA2576110814INPP5Kc.*37C>A (n.*37C>A)
c.*975C>A (n.*975C>A)
 gnomAD v4
17g.1495787C>ACA2635219054INPP5Kc.*36G>T (n.*36G>T)
c.*974G>T (n.*974G>T)
 gnomAD v4
17g.1495787C>GCA2635219055INPP5Kc.*36G>C (n.*36G>C)
c.*974G>C (n.*974G>C)
 gnomAD v4
17g.1495787C>TCA2635219056INPP5Kc.*36G>A (n.*36G>A)
c.*974G>A (n.*974G>A)
 gnomAD v4
17g.1495788T>CCA2635219057INPP5Kc.*35A>G (n.*35A>G)
c.*973A>G (n.*973A>G)
 gnomAD v4
17g.1495788T>GCA2242889141INPP5Kc.*35A>C (n.*35A>C)
c.*973A>C (n.*973A>C)
 dbSNP
17g.1495788T=CA2242889140INPP5Kc.*35A= (n.*35A=)
c.*973A= (n.*973A=)
17g.1495790T>CCA2635219058INPP5Kc.*33A>G (n.*33A>G)
c.*971A>G (n.*971A>G)
 gnomAD v4
17g.1495791G>ACA2635219059INPP5Kc.*32C>T (n.*32C>T)
c.*970C>T (n.*970C>T)
 gnomAD v4
17g.1495791G>TCA2576110816INPP5Kc.*32C>A (n.*32C>A)
c.*970C>A (n.*970C>A)
 gnomAD v4
17g.1495792delCA2576110815INPP5Kc.*32del (n.*32del)
c.*970del (n.*970del)
 gnomAD v4
17g.1495792G>ACA2576110817INPP5Kc.*31C>T (n.*31C>T)
c.*969C>T (n.*969C>T)
 gnomAD v4
17g.1495792G>CCA2576110818INPP5Kc.*31C>G (n.*31C>G)
c.*969C>G (n.*969C>G)
17g.1495792G>TCA2635219060INPP5Kc.*31C>A (n.*31C>A)
c.*969C>A (n.*969C>A)
 gnomAD v4
17g.1495793C>TCA2635219061INPP5Kc.*30G>A (n.*30G>A)
c.*968G>A (n.*968G>A)
 gnomAD v4
17g.1495794C>TCA2635219062INPP5Kc.*29G>A (n.*29G>A)
c.*967G>A (n.*967G>A)
 gnomAD v4
17g.1495795T>ACA2635219063INPP5Kc.*28A>T (n.*28A>T)
c.*966A>T (n.*966A>T)
 gnomAD v4
17g.1495795T>CCA2635219064INPP5Kc.*28A>G (n.*28A>G)
c.*966A>G (n.*966A>G)
 gnomAD v4
17g.1495797delCA2576110819INPP5Kc.*27del (n.*27del)
c.*965del (n.*965del)
17g.1495797C=CA2242889142INPP5Kc.*26G= (n.*26G=)
c.*964G= (n.*964G=)
17g.1495797C>TCA8268275INPP5Kc.*26G>A (n.*26G>A)
c.*964G>A (n.*964G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1495798_1495799delCA2576110820INPP5Kc.*25_*26del (n.*25_*26del)
c.*963_*964del (n.*963_*964del)
17g.1495798delCA2733111145INPP5Kc.*25del (n.*25del)
c.*963del (n.*963del)
 dbSNP
17g.1495798G>ACA8268276INPP5Kc.*25C>T (n.*25C>T)
c.*963C>T (n.*963C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1495798G=CA2242889143INPP5Kc.*25C= (n.*25C=)
c.*963C= (n.*963C=)
17g.1495798G>TCA2242889144INPP5Kc.*25C>A (n.*25C>A)
c.*963C>A (n.*963C>A)
 dbSNP gnomAD v4
17g.1495799C=CA2242889145INPP5Kc.*24G= (n.*24G=)
c.*962G= (n.*962G=)
17g.1495799C>GCA2242889146INPP5Kc.*24G>C (n.*24G>C)
c.*962G>C (n.*962G>C)
 dbSNP
17g.1495799C>TCA624343100INPP5Kc.*24G>A (n.*24G>A)
c.*962G>A (n.*962G>A)
 dbSNP gnomAD v2
17g.1495800C>ACA2576110821INPP5Kc.*23G>T (n.*23G>T)
c.*961G>T (n.*961G>T)
n.482G>T
17g.1495802G>TCA2635219065INPP5Kc.*21C>A (n.*21C>A)
c.*959C>A (n.*959C>A)
n.480C>A
 gnomAD v4
17g.1495804delCA2576110822INPP5Kc.*21del (n.*21del)
c.*959del (n.*959del)
n.480del
 gnomAD v4
17g.1495803G>CCA2576110823INPP5Kc.*20C>G (n.*20C>G)
c.*958C>G (n.*958C>G)
n.479C>G
 gnomAD v4
17g.1495804G>ACA2576110824INPP5Kc.*19C>T (n.*19C>T)
c.*957C>T (n.*957C>T)
n.478C>T
17g.1495804G>TCA2635219066INPP5Kc.*19C>A (n.*19C>A)
c.*957C>A (n.*957C>A)
n.478C>A
 gnomAD v4
17g.1495805A=CA2242889147INPP5Kc.*18T= (n.*18T=)
c.*956T= (n.*956T=)
n.477T=
17g.1495805A>GCA2242889148INPP5Kc.*18T>C (n.*18T>C)
c.*956T>C (n.*956T>C)
n.477T>C
 dbSNP
17g.1495807T>GCA2635219067INPP5Kc.*16A>C (n.*16A>C)
c.*954A>C (n.*954A>C)
n.475A>C
 gnomAD v4
17g.1495810C>GCA2808185631INPP5Kc.*13G>C (n.*13G>C)
c.*951G>C (n.*951G>C)
n.472G>C
17g.1495812C=CA2242889149INPP5Kc.*11G= (n.*11G=)
c.*949G= (n.*949G=)
n.470G=
17g.1495812C>GCA624343102INPP5Kc.*11G>C (n.*11G>C)
c.*949G>C (n.*949G>C)
n.470G>C
 dbSNP gnomAD v2
17g.1495812C>TCA2635219068INPP5Kc.*11G>A (n.*11G>A)
c.*949G>A (n.*949G>A)
n.470G>A
 gnomAD v4
17g.1495814delCA2576110825INPP5Kc.*11del (n.*11del)
c.*949del (n.*949del)
n.470del
17g.1495813C=CA2242889151INPP5Kc.*10G= (n.*10G=)
c.*948G= (n.*948G=)
n.469G=
17g.1495813C>TCA8268277INPP5Kc.*10G>A (n.*10G>A)
c.*948G>A (n.*948G>A)
n.469G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.1495813_1495826delinsCCATCCTGGCTCAGCA2242889150INPP5Kc.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=])
17g.1495814C=CA2242889152INPP5Kc.*9G= (n.*9G=)
c.*947G= (n.*947G=)
n.468G=
17g.1495814C>TCA497278557INPP5Kc.*9G>A (n.*9G>A)
c.*947G>A (n.*947G>A)
n.468G>A
 dbSNP gnomAD v4
17g.1495814_1495826delCA726340217INPP5Kc.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
17g.1495815A>GCA2635219070INPP5Kc.*8T>C (n.*8T>C)
c.*946T>C (n.*946T>C)
n.467T>C
 gnomAD v4
17g.1495816T>CCA286807445INPP5Kc.*7A>G (n.*7A>G)
c.*945A>G (n.*945A>G)
n.466A>G
 dbSNP gnomAD v4
17g.1495816T=CA2242889153INPP5Kc.*7A= (n.*7A=)
c.*945A= (n.*945A=)
n.466A=
17g.1495817C=CA2242889154INPP5Kc.*6G= (n.*6G=)
c.*944G= (n.*944G=)
n.465G=
17g.1495817C>GCA8268278INPP5Kc.*6G>C (n.*6G>C)
c.*944G>C (n.*944G>C)
n.465G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.1495817C>TCA2635219071INPP5Kc.*6G>A (n.*6G>A)
c.*944G>A (n.*944G>A)
n.465G>A
 gnomAD v4
17g.1495818C=CA2242889155INPP5Kc.*5G= (n.*5G=)
c.*943G= (n.*943G=)
n.464G=
17g.1495818C>GCA286807451INPP5Kc.*5G>C (n.*5G>C)
c.*943G>C (n.*943G>C)
n.464G>C
 dbSNP gnomAD v3 gnomAD v4
17g.1495818C>TCA2635219073INPP5Kc.*5G>A (n.*5G>A)
c.*943G>A (n.*943G>A)
n.464G>A
 gnomAD v4
17g.1495819T>CCA980651179INPP5Kc.*4A>G (n.*4A>G)
c.*942A>G (n.*942A>G)
n.463A>G
 gnomAD v3 gnomAD v4
17g.1495820G>ACA2242889157INPP5Kc.*3C>T (n.*3C>T)
c.*941C>T (n.*941C>T)
n.462C>T
 dbSNP
17g.1495820G=CA2242889156INPP5Kc.*3C= (n.*3C=)
c.*941C= (n.*941C=)
n.462C=
17g.1495821G>TCA2635219075INPP5Kc.*2C>A (n.*2C>A)
c.*940C>A (n.*940C>A)
n.461C>A
 gnomAD v4
17g.1495822C>ACA8268279INPP5Kc.*1G>T (n.*1G>T)
c.*939G>T (n.*939G>T)
n.460G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.1495822C=CA2242889158INPP5Kc.*1G= (n.*1G=)
c.*939G= (n.*939G=)
n.460G=
17g.1495823T>ACA397535374INPP5Kc.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
17g.1495823T>CCA397535377INPP5Kc.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)
17g.1495823T>GCA397535380INPP5Kc.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)
17g.1495823_1495825delinsTCACA2242889159INPP5Kc.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=)
17g.1495824C>ACA397535383INPP5Kc.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)
17g.1495824C=CA2242889161INPP5Kc.1346G= (p.Ter449=)
c.1118G= (p.Ter373=)
c.*937G= (n.*937G=)
n.458G=
c.1070G= (p.Ter357=)
c.941G= (p.Ter314=)
17g.1495824C>GCA397535387INPP5Kc.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)
17g.1495824C>TCA497278558INPP5Kc.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
17g.1495824_1495825delCA2242889160INPP5Kc.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
17g.1495825A>CCA397535389INPP5Kc.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)
17g.1495825A>GCA397535392INPP5Kc.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)
17g.1495825A>TCA397535395INPP5Kc.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)
17g.1495826G>ACA497278559INPP5Kc.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=)
17g.1495826G>CCA397535398INPP5Kc.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
17g.1495826G=CA2242889162INPP5Kc.1344C= (p.Ile448=)
c.1116C= (p.Ile372=)
c.*935C= (n.*935C=)
n.456C=
c.1068C= (p.Ile356=)
c.939C= (p.Ile313=)
17g.1495826G>TCA497278560INPP5Kc.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=)
17g.1495827A=CA2242889163INPP5Kc.1343T= (p.Ile448=)
c.1115T= (p.Ile372=)
c.*934T= (n.*934T=)
n.455T=
c.1067T= (p.Ile356=)
c.938T= (p.Ile313=)
17g.1495827A>CCA397535402INPP5Kc.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
17g.1495827A>GCA8268280INPP5Kc.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
17g.1495827A>TCA397535407INPP5Kc.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)
17g.1495828T>ACA397535411INPP5Kc.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)
17g.1495828T>CCA397535417INPP5Kc.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)
17g.1495828T>GCA397535415INPP5Kc.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)
17g.1495829C>ACA397535419INPP5Kc.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
17g.1495829C=CA2242889164INPP5Kc.1341G= (p.Gln447=)
c.1113G= (p.Gln371=)
c.*932G= (n.*932G=)
n.453G=
c.1065G= (p.Gln355=)
c.936G= (p.Gln312=)
17g.1495829C>GCA397535422INPP5Kc.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)
17g.1495829C>TCA286807461INPP5Kc.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
17g.1495830T>ACA397535424INPP5Kc.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)
17g.1495830T>CCA8268281INPP5Kc.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
17g.1495830T>GCA397535427INPP5Kc.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)
17g.1495830T=CA2242889165INPP5Kc.1340A= (p.Gln447=)
c.1112A= (p.Gln371=)
c.*931A= (n.*931A=)
n.452A=
c.1064A= (p.Gln355=)
c.935A= (p.Gln312=)
17g.1495831G>ACA397535429INPP5Kc.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)
17g.1495831G>CCA397535432INPP5Kc.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)
17g.1495831G>TCA397535435INPP5Kc.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)
17g.1495832T>ACA497278561INPP5Kc.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=)
17g.1495832T>CCA497278562INPP5Kc.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=)
17g.1495832T>GCA497278564INPP5Kc.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=)
17g.1495833G>ACA397535438INPP5Kc.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)
17g.1495833G>CCA397535440INPP5Kc.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)
17g.1495833G>TCA397535442INPP5Kc.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)
17g.1495834G>ACA397535445INPP5Kc.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)
17g.1495834G>CCA397535448INPP5Kc.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)
17g.1495834G=CA2242889166INPP5Kc.1336C= (p.Pro446=)
c.1108C= (p.Pro370=)
c.*927C= (n.*927C=)
n.448C=
c.1060C= (p.Pro354=)
c.931C= (p.Pro311=)
17g.1495834G>TCA8268282INPP5Kc.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
17g.1495835C>ACA397535452INPP5Kc.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)
17g.1495835C=CA2242889167INPP5Kc.1335G= (p.Gln445=)
c.1107G= (p.Gln369=)
c.*926G= (n.*926G=)
n.447G=
c.1059G= (p.Gln353=)
c.930G= (p.Gln310=)
17g.1495835C>GCA397535454INPP5Kc.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
17g.1495835C>TCA497278565INPP5Kc.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=)
17g.1495836T>ACA397535457INPP5Kc.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)
17g.1495836T>CCA397535459INPP5Kc.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)
17g.1495836T>GCA397535461INPP5Kc.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)
17g.1495837G>ACA8268283INPP5Kc.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
17g.1495837G>CCA397535465INPP5Kc.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)
17g.1495837G=CA2242889168INPP5Kc.1333C= (p.Gln445=)
c.1105C= (p.Gln369=)
c.*924C= (n.*924C=)
n.445C=
c.1057C= (p.Gln353=)
c.928C= (p.Gln310=)
17g.1495837G>TCA397535467INPP5Kc.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
17g.1495838T>ACA497278566INPP5Kc.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=)
17g.1495838T>CCA497278567INPP5Kc.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=)
17g.1495838T>GCA497278568INPP5Kc.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=)
17g.1495839G>ACA397535471INPP5Kc.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)
17g.1495839G>CCA397535473INPP5Kc.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)
17g.1495839G>TCA397535476INPP5Kc.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)
17g.1495840C>ACA397535479INPP5Kc.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)
17g.1495840C=CA2242889169INPP5Kc.1330G= (p.Ala444=)
c.1102G= (p.Ala368=)
c.*921G= (n.*921G=)
n.442G=
c.1054G= (p.Ala352=)
c.925G= (p.Ala309=)
17g.1495840C>GCA397535485INPP5Kc.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
17g.1495840C>TCA397535486INPP5Kc.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)
17g.1495841T>ACA397535497INPP5Kc.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)
17g.1495841T>CCA497278569INPP5Kc.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=)
17g.1495841T>GCA397535494INPP5Kc.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)
17g.1495842T>ACA397535500INPP5Kc.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)
17g.1495842T>CCA397535506INPP5Kc.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)
17g.1495842T>GCA397535503INPP5Kc.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)
17g.1495843C>ACA397535509INPP5Kc.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)
17g.1495843C>GCA397535514INPP5Kc.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)
17g.1495843C>TCA397535512INPP5Kc.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)
17g.1495844A>CCA497278570INPP5Kc.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=)
17g.1495844A>GCA497278571INPP5Kc.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=)
17g.1495844A>TCA497278572INPP5Kc.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=)
17g.1495845C>ACA397535519INPP5Kc.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)
17g.1495845C=CA2242889170INPP5Kc.1325G= (p.Gly442=)
c.1097G= (p.Gly366=)
c.*916G= (n.*916G=)
n.437G=
c.1049G= (p.Gly350=)
c.920G= (p.Gly307=)
17g.1495845C>GCA397535529INPP5Kc.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
17g.1495845C>TCA397535525INPP5Kc.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)
17g.1495846C>ACA397535532INPP5Kc.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)
17g.1495846C=CA2242889171INPP5Kc.1324G= (p.Gly442=)
c.1096G= (p.Gly366=)
c.*915G= (n.*915G=)
n.436G=
c.1048G= (p.Gly350=)
c.919G= (p.Gly307=)
17g.1495846C>GCA397535537INPP5Kc.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)
17g.1495846C>TCA397535535INPP5Kc.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
17g.1495847C>ACA497278573INPP5Kc.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
17g.1495847C=CA2242889172INPP5Kc.1323G= (p.Leu441=)
c.1095G= (p.Leu365=)
c.*914G= (n.*914G=)
n.435G=
c.1047G= (p.Leu349=)
c.918G= (p.Leu306=)
17g.1495847C>GCA497278574INPP5Kc.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=)
17g.1495847C>TCA8268284INPP5Kc.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
17g.1495848A>CCA397535546INPP5Kc.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)
17g.1495848A>GCA397535541INPP5Kc.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
17g.1495848A>TCA397535543INPP5Kc.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)
17g.1495849G>ACA497278575INPP5Kc.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
17g.1495849G>CCA397535548INPP5Kc.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
17g.1495849G=CA2242889173INPP5Kc.1321C= (p.Leu441=)
c.1093C= (p.Leu365=)
c.*912C= (n.*912C=)
n.433C=
c.1045C= (p.Leu349=)
c.916C= (p.Leu306=)
17g.1495849G>TCA8268285INPP5Kc.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
17g.1495850T>ACA497278576INPP5Kc.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=)
17g.1495850T>CCA497278577INPP5Kc.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
17g.1495850T>GCA497278578INPP5Kc.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=)
17g.1495851G>ACA397535556INPP5Kc.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)
17g.1495851G>CCA397535558INPP5Kc.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)
17g.1495851G>TCA397535567INPP5Kc.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)
17g.1495852G>ACA397535580INPP5Kc.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)
17g.1495852G>CCA397535572INPP5Kc.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)
17g.1495852G>TCA397535577INPP5Kc.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)
17g.1495853G>ACA497278579INPP5Kc.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
17g.1495853G>CCA397535582INPP5Kc.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)
17g.1495853G>TCA397535583INPP5Kc.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
17g.1495854T>ACA397535584INPP5Kc.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)
17g.1495854T>CCA397535585INPP5Kc.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)
17g.1495854T>GCA397535586INPP5Kc.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)
17g.1495855C>ACA397535588INPP5Kc.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)
17g.1495855C=CA2242889174INPP5Kc.1315G= (p.Asp439=)
c.1087G= (p.Asp363=)
c.*906G= (n.*906G=)
n.427G=
c.1039G= (p.Asp347=)
c.910G= (p.Asp304=)
17g.1495855C>GCA397535592INPP5Kc.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
17g.1495855C>TCA397535590INPP5Kc.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
17g.1495856C>ACA397535595INPP5Kc.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)
17g.1495856C=CA2242889175INPP5Kc.1314G= (p.Glu438=)
c.1086G= (p.Glu362=)
c.*905G= (n.*905G=)
n.426G=
c.1038G= (p.Glu346=)
c.909G= (p.Glu303=)
17g.1495856C>GCA397535597INPP5Kc.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)
17g.1495856C>TCA497278580INPP5Kc.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
17g.1495857T>ACA397535602INPP5Kc.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)
17g.1495857T>CCA397535605INPP5Kc.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)
17g.1495857T>GCA397535608INPP5Kc.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)
17g.1495858C>ACA397535612INPP5Kc.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
17g.1495858C>GCA397535614INPP5Kc.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)
17g.1495858C>TCA397535617INPP5Kc.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)
17g.1495859C>ACA397535620INPP5Kc.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)
17g.1495859C=CA2242889176INPP5Kc.1311G= (p.Arg437=)
c.1083G= (p.Arg361=)
c.*902G= (n.*902G=)
n.423G=
c.1035G= (p.Arg345=)
c.906G= (p.Arg302=)
17g.1495859C>GCA397535638INPP5Kc.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)
17g.1495859C>TCA8268286INPP5Kc.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
17g.1495860C>ACA397535643INPP5Kc.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)
17g.1495860C=CA2242889177INPP5Kc.1310G= (p.Arg437=)
c.1082G= (p.Arg361=)
c.*901G= (n.*901G=)
n.422G=
c.1034G= (p.Arg345=)
c.905G= (p.Arg302=)
17g.1495860C>GCA397535650INPP5Kc.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)
17g.1495860C>TCA397535645INPP5Kc.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
17g.1495861T>ACA397535671INPP5Kc.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)
17g.1495861T>CCA397535673INPP5Kc.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
17g.1495861T>GCA497278581INPP5Kc.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=)
17g.1495861T=CA2242889178INPP5Kc.1309A= (p.Arg437=)
c.1081A= (p.Arg361=)
c.*900A= (n.*900A=)
n.421A=
c.1033A= (p.Arg345=)
c.904A= (p.Arg302=)
17g.1495862C>ACA397535679INPP5Kc.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)
17g.1495862C=CA2242889179INPP5Kc.1308G= (p.Leu436=)
c.1080G= (p.Leu360=)
c.*899G= (n.*899G=)
n.420G=
c.1032G= (p.Leu344=)
c.903G= (p.Leu301=)
17g.1495862C>GCA397535684INPP5Kc.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
17g.1495862C>TCA497278582INPP5Kc.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
17g.1495863A>CCA397535690INPP5Kc.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)
17g.1495863A>GCA397535693INPP5Kc.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)
17g.1495863A>TCA397535697INPP5Kc.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)
17g.1495864A=CA2242889180INPP5Kc.1306T= (p.Leu436=)
c.1078T= (p.Leu360=)
c.*897T= (n.*897T=)
n.418T=
c.1030T= (p.Leu344=)
c.901T= (p.Leu301=)
17g.1495864A>CCA397535699INPP5Kc.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)
17g.1495864A>GCA497278583INPP5Kc.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
17g.1495864A>TCA397535710INPP5Kc.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)
17g.1495865G>ACA497278584INPP5Kc.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=)
17g.1495865G>CCA497278586INPP5Kc.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=)
17g.1495865G>TCA497278585INPP5Kc.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=)
17g.1495866G>ACA397535712INPP5Kc.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
17g.1495866G>CCA8268287INPP5Kc.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
17g.1495866G=CA2242889181INPP5Kc.1304C= (p.Ser435=)
c.1076C= (p.Ser359=)
c.*895C= (n.*895C=)
n.416C=
c.1028C= (p.Ser343=)
c.899C= (p.Ser300=)
17g.1495866G>TCA397535715INPP5Kc.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)
17g.1495867A>CCA397535724INPP5Kc.1303T>G (p.Ser435Ala)
c.1075T>G (p.Ser359Ala)
c.*894T>G (n.*894T>G)
n.415T>G
c.1027T>G (p.Ser343Ala)
c.898T>G (p.Ser300Ala)
17g.1495867A>GCA397535719INPP5Kc.1303T>C (p.Ser435Pro)
c.1075T>C (p.Ser359Pro)
c.*894T>C (n.*894T>C)
n.415T>C
c.1027T>C (p.Ser343Pro)
c.898T>C (p.Ser300Pro)
17g.1495867A>TCA397535721INPP5Kc.1303T>A (p.Ser435Thr)
c.1075T>A (p.Ser359Thr)
c.*894T>A (n.*894T>A)
n.415T>A
c.1027T>A (p.Ser343Thr)
c.898T>A (p.Ser300Thr)
17g.1495868G>ACA497278587INPP5Kc.1302C>T (p.Gly434=)
c.1074C>T (p.Gly358=)
c.*893C>T (n.*893C>T)
n.414C>T
c.1026C>T (p.Gly342=)
c.897C>T (p.Gly299=)
17g.1495868G>CCA497278589INPP5Kc.1302C>G (p.Gly434=)
c.1074C>G (p.Gly358=)
c.*893C>G (n.*893C>G)
n.414C>G
c.1026C>G (p.Gly342=)
c.897C>G (p.Gly299=)
17g.1495868G>TCA497278588INPP5Kc.1302C>A (p.Gly434=)
c.1074C>A (p.Gly358=)
c.*893C>A (n.*893C>A)
n.414C>A
c.1026C>A (p.Gly342=)
c.897C>A (p.Gly299=)
17g.1495869C>ACA397535730INPP5Kc.1301G>T (p.Gly434Val)
c.1073G>T (p.Gly358Val)
c.*892G>T (n.*892G>T)
n.413G>T
c.1025G>T (p.Gly342Val)
c.896G>T (p.Gly299Val)
17g.1495869C=CA2242889182INPP5Kc.1301G= (p.Gly434=)
c.1073G= (p.Gly358=)
c.*892G= (n.*892G=)
n.413G=
c.1025G= (p.Gly342=)
c.896G= (p.Gly299=)
17g.1495869C>GCA397535732INPP5Kc.1301G>C (p.Gly434Ala)
c.1073G>C (p.Gly358Ala)
c.*892G>C (n.*892G>C)
n.413G>C
c.1025G>C (p.Gly342Ala)
c.896G>C (p.Gly299Ala)
17g.1495869C>TCA397535734INPP5Kc.1301G>A (p.Gly434Asp)
c.1073G>A (p.Gly358Asp)
c.*892G>A (n.*892G>A)
n.413G>A
c.1025G>A (p.Gly342Asp)
c.896G>A (p.Gly299Asp)
 dbSNP gnomAD v4
17g.1495870C>ACA397535736INPP5Kc.1300G>T (p.Gly434Cys)
c.1072G>T (p.Gly358Cys)
c.*891G>T (n.*891G>T)
n.412G>T
c.1024G>T (p.Gly342Cys)
c.895G>T (p.Gly299Cys)
17g.1495870C>GCA397535739INPP5Kc.1300G>C (p.Gly434Arg)
c.1072G>C (p.Gly358Arg)
c.*891G>C (n.*891G>C)
n.412G>C
c.1024G>C (p.Gly342Arg)
c.895G>C (p.Gly299Arg)
17g.1495870C>TCA397535742INPP5Kc.1300G>A (p.Gly434Ser)
c.1072G>A (p.Gly358Ser)
c.*891G>A (n.*891G>A)
n.412G>A
c.1024G>A (p.Gly342Ser)
c.895G>A (p.Gly299Ser)
17g.1495871A>CCA497278590INPP5Kc.1299T>G (p.Pro433=)
c.1071T>G (p.Pro357=)
c.*890T>G (n.*890T>G)
n.411T>G
c.1023T>G (p.Pro341=)
c.894T>G (p.Pro298=)
17g.1495871A>GCA497278591INPP5Kc.1299T>C (p.Pro433=)
c.1071T>C (p.Pro357=)
c.*890T>C (n.*890T>C)
n.411T>C
c.1023T>C (p.Pro341=)
c.894T>C (p.Pro298=)
17g.1495871A>TCA497278592INPP5Kc.1299T>A (p.Pro433=)
c.1071T>A (p.Pro357=)
c.*890T>A (n.*890T>A)
n.411T>A
c.1023T>A (p.Pro341=)
c.894T>A (p.Pro298=)
17g.1495872G>ACA397535752INPP5Kc.1298C>T (p.Pro433Leu)
c.1070C>T (p.Pro357Leu)
c.*889C>T (n.*889C>T)
n.410C>T
c.1022C>T (p.Pro341Leu)
c.893C>T (p.Pro298Leu)
 dbSNP gnomAD v3 gnomAD v4
17g.1495872G>CCA397535756INPP5Kc.1298C>G (p.Pro433Arg)
c.1070C>G (p.Pro357Arg)
c.*889C>G (n.*889C>G)
n.410C>G
c.1022C>G (p.Pro341Arg)
c.893C>G (p.Pro298Arg)
17g.1495872G=CA2242889183INPP5Kc.1298C= (p.Pro433=)
c.1070C= (p.Pro357=)
c.*889C= (n.*889C=)
n.410C=
c.1022C= (p.Pro341=)
c.893C= (p.Pro298=)
17g.1495872G>TCA397535758INPP5Kc.1298C>A (p.Pro433His)
c.1070C>A (p.Pro357His)
c.*889C>A (n.*889C>A)
n.410C>A
c.1022C>A (p.Pro341His)
c.893C>A (p.Pro298His)
17g.1495873G>ACA397535761INPP5Kc.1297C>T (p.Pro433Ser)
c.1069C>T (p.Pro357Ser)
c.*888C>T (n.*888C>T)
n.409C>T
c.1021C>T (p.Pro341Ser)
c.892C>T (p.Pro298Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.1495873G>CCA397535764INPP5Kc.1297C>G (p.Pro433Ala)
c.1069C>G (p.Pro357Ala)
c.*888C>G (n.*888C>G)
n.409C>G
c.1021C>G (p.Pro341Ala)
c.892C>G (p.Pro298Ala)
17g.1495873G=CA2242889184INPP5Kc.1297C= (p.Pro433=)
c.1069C= (p.Pro357=)
c.*888C= (n.*888C=)
n.409C=
c.1021C= (p.Pro341=)
c.892C= (p.Pro298=)
17g.1495873G>TCA397535767INPP5Kc.1297C>A (p.Pro433Thr)
c.1069C>A (p.Pro357Thr)
c.*888C>A (n.*888C>A)
n.409C>A
c.1021C>A (p.Pro341Thr)
c.892C>A (p.Pro298Thr)

Number of alleles fetched