Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.136430298T>ACA375561129INPP5Ec.1781A>T (p.Lys594Ile)
c.1679A>T (p.Lys560Ile)
c.1778A>T (p.Lys593Ile)
n.2386A>T
 gnomAD v4
9g.136430298T>CCA375561130INPP5Ec.1781A>G (p.Lys594Arg)
c.1679A>G (p.Lys560Arg)
c.1778A>G (p.Lys593Arg)
n.2386A>G
9g.136430298T>GCA375561131INPP5Ec.1781A>C (p.Lys594Thr)
c.1679A>C (p.Lys560Thr)
c.1778A>C (p.Lys593Thr)
n.2386A>C
9g.136430299T>ACA375561132INPP5Ec.1780A>T (p.Lys594Ter)
c.1678A>T (p.Lys560Ter)
c.1777A>T (p.Lys593Ter)
n.2385A>T
9g.136430299T>CCA375561134INPP5Ec.1780A>G (p.Lys594Glu)
c.1678A>G (p.Lys560Glu)
c.1777A>G (p.Lys593Glu)
n.2385A>G
9g.136430299T>GCA375561133INPP5Ec.1780A>C (p.Lys594Gln)
c.1678A>C (p.Lys560Gln)
c.1777A>C (p.Lys593Gln)
n.2385A>C
9g.136430300C>ACA467720035INPP5Ec.1779G>T (p.Val593=)
c.1677G>T (p.Val559=)
c.1776G>T (p.Val592=)
n.2384G>T
 gnomAD v4
9g.136430300C=CA1884224140INPP5Ec.1779G= (p.Val593=)
c.1677G= (p.Val559=)
c.1776G= (p.Val592=)
n.2384G=
9g.136430300C>GCA467720036INPP5Ec.1779G>C (p.Val593=)
c.1677G>C (p.Val559=)
c.1776G>C (p.Val592=)
n.2384G>C
9g.136430300C>TCA467720037INPP5Ec.1779G>A (p.Val593=)
c.1677G>A (p.Val559=)
c.1776G>A (p.Val592=)
n.2384G>A
 dbSNP gnomAD v3 gnomAD v4
9g.136430301A>CCA375561135INPP5Ec.1778T>G (p.Val593Gly)
c.1676T>G (p.Val559Gly)
c.1775T>G (p.Val592Gly)
n.2383T>G
9g.136430301A>GCA375561136INPP5Ec.1778T>C (p.Val593Ala)
c.1676T>C (p.Val559Ala)
c.1775T>C (p.Val592Ala)
n.2383T>C
 gnomAD v4
9g.136430301A>TCA375561137INPP5Ec.1778T>A (p.Val593Glu)
c.1676T>A (p.Val559Glu)
c.1775T>A (p.Val592Glu)
n.2383T>A
9g.136430302C>ACA375561138INPP5Ec.1777G>T (p.Val593Leu)
c.1675G>T (p.Val559Leu)
c.1774G>T (p.Val592Leu)
n.2382G>T
 gnomAD v4
9g.136430302C=CA1884224141INPP5Ec.1777G= (p.Val593=)
c.1675G= (p.Val559=)
c.1774G= (p.Val592=)
n.2382G=
9g.136430302C>GCA375561139INPP5Ec.1777G>C (p.Val593Leu)
c.1675G>C (p.Val559Leu)
c.1774G>C (p.Val592Leu)
n.2382G>C
 dbSNP gnomAD v3 gnomAD v4
9g.136430302C>TCA375561140INPP5Ec.1777G>A (p.Val593Met)
c.1675G>A (p.Val559Met)
c.1774G>A (p.Val592Met)
n.2382G>A
9g.136430303C>ACA467720039INPP5Ec.1776G>T (p.Arg592=)
c.1674G>T (p.Arg558=)
c.1773G>T (p.Arg591=)
n.2381G>T
 gnomAD v4
9g.136430303C>GCA467720040INPP5Ec.1776G>C (p.Arg592=)
c.1674G>C (p.Arg558=)
c.1773G>C (p.Arg591=)
n.2381G>C
9g.136430303C>TCA467720041INPP5Ec.1776G>A (p.Arg592=)
c.1674G>A (p.Arg558=)
c.1773G>A (p.Arg591=)
n.2381G>A
 gnomAD v4
9g.136430304C>ACA375561141INPP5Ec.1775G>T (p.Arg592Leu)
c.1673G>T (p.Arg558Leu)
c.1772G>T (p.Arg591Leu)
n.2380G>T
 dbSNP gnomAD v3 gnomAD v4
9g.136430304C=CA1884224142INPP5Ec.1775G= (p.Arg592=)
c.1673G= (p.Arg558=)
c.1772G= (p.Arg591=)
n.2380G=
9g.136430304C>GCA375561142INPP5Ec.1775G>C (p.Arg592Pro)
c.1673G>C (p.Arg558Pro)
c.1772G>C (p.Arg591Pro)
n.2380G>C
9g.136430304C>TCA375561143INPP5Ec.1775G>A (p.Arg592Gln)
c.1673G>A (p.Arg558Gln)
c.1772G>A (p.Arg591Gln)
n.2380G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.136430305G>ACA201638278INPP5Ec.1774C>T (p.Arg592Trp)
c.1672C>T (p.Arg558Trp)
c.1771C>T (p.Arg591Trp)
n.2379C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.136430305G>CCA375561144INPP5Ec.1774C>G (p.Arg592Gly)
c.1672C>G (p.Arg558Gly)
c.1771C>G (p.Arg591Gly)
n.2379C>G
 dbSNP gnomAD v2 gnomAD v4
9g.136430305G=CA1884224143INPP5Ec.1774C= (p.Arg592=)
c.1672C= (p.Arg558=)
c.1771C= (p.Arg591=)
n.2379C=
9g.136430305G>TCA467720044INPP5Ec.1774C>A (p.Arg592=)
c.1672C>A (p.Arg558=)
c.1771C>A (p.Arg591=)
n.2379C>A
9g.136430306delCA2603851202INPP5Ec.1774del (p.Arg592GlyfsTer2)
c.1672del (p.Arg558GlyfsTer2)
c.1771del (p.Arg591GlyfsTer2)
n.2379del
 gnomAD v3 gnomAD v4
9g.136430306G>ACA467720045INPP5Ec.1773C>T (p.Phe591=)
c.1671C>T (p.Phe557=)
c.1770C>T (p.Phe590=)
n.2378C>T
9g.136430306G>CCA375561146INPP5Ec.1773C>G (p.Phe591Leu)
c.1671C>G (p.Phe557Leu)
c.1770C>G (p.Phe590Leu)
n.2378C>G
9g.136430306G>TCA375561145INPP5Ec.1773C>A (p.Phe591Leu)
c.1671C>A (p.Phe557Leu)
c.1770C>A (p.Phe590Leu)
n.2378C>A
 gnomAD v4
9g.136430307A>CCA375561147INPP5Ec.1772T>G (p.Phe591Cys)
c.1670T>G (p.Phe557Cys)
c.1769T>G (p.Phe590Cys)
n.2377T>G
9g.136430307A>GCA375561148INPP5Ec.1772T>C (p.Phe591Ser)
c.1670T>C (p.Phe557Ser)
c.1769T>C (p.Phe590Ser)
n.2377T>C
9g.136430307A>TCA375561149INPP5Ec.1772T>A (p.Phe591Tyr)
c.1670T>A (p.Phe557Tyr)
c.1769T>A (p.Phe590Tyr)
n.2377T>A
9g.136430308A>CCA375561150INPP5Ec.1771T>G (p.Phe591Val)
c.1669T>G (p.Phe557Val)
c.1768T>G (p.Phe590Val)
n.2376T>G
9g.136430308A>GCA375561151INPP5Ec.1771T>C (p.Phe591Leu)
c.1669T>C (p.Phe557Leu)
c.1768T>C (p.Phe590Leu)
n.2376T>C
9g.136430308A>TCA375561152INPP5Ec.1771T>A (p.Phe591Ile)
c.1669T>A (p.Phe557Ile)
c.1768T>A (p.Phe590Ile)
n.2376T>A
9g.136430309G>ACA153162INPP5Ec.1770C>T (p.Leu590=)
c.1668C>T (p.Leu556=)
c.1767C>T (p.Leu589=)
n.2375C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136430309G>CCA201638283INPP5Ec.1770C>G (p.Leu590=)
c.1668C>G (p.Leu556=)
c.1767C>G (p.Leu589=)
n.2375C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.136430309G=CA1884224144INPP5Ec.1770C= (p.Leu590=)
c.1668C= (p.Leu556=)
c.1767C= (p.Leu589=)
n.2375C=
9g.136430309G>TCA467720046INPP5Ec.1770C>A (p.Leu590=)
c.1668C>A (p.Leu556=)
c.1767C>A (p.Leu589=)
n.2375C>A
9g.136430310A>CCA375561155INPP5Ec.1769T>G (p.Leu590Arg)
c.1667T>G (p.Leu556Arg)
c.1766T>G (p.Leu589Arg)
n.2374T>G
9g.136430310A>GCA375561153INPP5Ec.1769T>C (p.Leu590Pro)
c.1667T>C (p.Leu556Pro)
c.1766T>C (p.Leu589Pro)
n.2374T>C
9g.136430310A>TCA375561154INPP5Ec.1769T>A (p.Leu590His)
c.1667T>A (p.Leu556His)
c.1766T>A (p.Leu589His)
n.2374T>A
9g.136430311G>ACA375561156INPP5Ec.1768C>T (p.Leu590Phe)
c.1666C>T (p.Leu556Phe)
c.1765C>T (p.Leu589Phe)
n.2373C>T
 gnomAD v4
9g.136430311G>CCA375561157INPP5Ec.1768C>G (p.Leu590Val)
c.1666C>G (p.Leu556Val)
c.1765C>G (p.Leu589Val)
n.2373C>G
9g.136430311G>TCA375561158INPP5Ec.1768C>A (p.Leu590Ile)
c.1666C>A (p.Leu556Ile)
c.1765C>A (p.Leu589Ile)
n.2373C>A
9g.136430312G>ACA467720047INPP5Ec.1767C>T (p.Gly589=)
c.1665C>T (p.Gly555=)
c.1764C>T (p.Gly588=)
n.2372C>T
 ClinVar dbSNP gnomAD v4
9g.136430312G>CCA467720049INPP5Ec.1767C>G (p.Gly589=)
c.1665C>G (p.Gly555=)
c.1764C>G (p.Gly588=)
n.2372C>G
9g.136430312G=CA1884224145INPP5Ec.1767C= (p.Gly589=)
c.1665C= (p.Gly555=)
c.1764C= (p.Gly588=)
n.2372C=
9g.136430312G>TCA467720048INPP5Ec.1767C>A (p.Gly589=)
c.1665C>A (p.Gly555=)
c.1764C>A (p.Gly588=)
n.2372C>A
9g.136430313C>ACA375561159INPP5Ec.1766G>T (p.Gly589Val)
c.1664G>T (p.Gly555Val)
c.1763G>T (p.Gly588Val)
n.2371G>T
 gnomAD v4
9g.136430313C>GCA375561160INPP5Ec.1766G>C (p.Gly589Ala)
c.1664G>C (p.Gly555Ala)
c.1763G>C (p.Gly588Ala)
n.2371G>C
9g.136430313C>TCA375561161INPP5Ec.1766G>A (p.Gly589Asp)
c.1664G>A (p.Gly555Asp)
c.1763G>A (p.Gly588Asp)
n.2371G>A
 gnomAD v4
9g.136430314C>ACA375561162INPP5Ec.1765G>T (p.Gly589Cys)
c.1663G>T (p.Gly555Cys)
c.1762G>T (p.Gly588Cys)
n.2370G>T
9g.136430314C>GCA375561164INPP5Ec.1765G>C (p.Gly589Arg)
c.1663G>C (p.Gly555Arg)
c.1762G>C (p.Gly588Arg)
n.2370G>C
9g.136430314C>TCA375561163INPP5Ec.1765G>A (p.Gly589Ser)
c.1663G>A (p.Gly555Ser)
c.1762G>A (p.Gly588Ser)
n.2370G>A
9g.136430315A=CA1884224146INPP5Ec.1764T= (p.Tyr588=)
c.1662T= (p.Tyr554=)
c.1761T= (p.Tyr587=)
n.2369T=
9g.136430315A>CCA375561165INPP5Ec.1764T>G (p.Tyr588Ter)
c.1662T>G (p.Tyr554Ter)
c.1761T>G (p.Tyr587Ter)
n.2369T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.136430315A>GCA467720050INPP5Ec.1764T>C (p.Tyr588=)
c.1662T>C (p.Tyr554=)
c.1761T>C (p.Tyr587=)
n.2369T>C
9g.136430315A>TCA375561166INPP5Ec.1764T>A (p.Tyr588Ter)
c.1662T>A (p.Tyr554Ter)
c.1761T>A (p.Tyr587Ter)
n.2369T>A
9g.136430316T>ACA375561167INPP5Ec.1763A>T (p.Tyr588Phe)
c.1661A>T (p.Tyr554Phe)
c.1760A>T (p.Tyr587Phe)
n.2368A>T
9g.136430316T>CCA375561168INPP5Ec.1763A>G (p.Tyr588Cys)
c.1661A>G (p.Tyr554Cys)
c.1760A>G (p.Tyr587Cys)
n.2368A>G
 ClinVar dbSNP gnomAD v4
9g.136430316T>GCA375561169INPP5Ec.1763A>C (p.Tyr588Ser)
c.1661A>C (p.Tyr554Ser)
c.1760A>C (p.Tyr587Ser)
n.2368A>C
9g.136430316T=CA1884224147INPP5Ec.1763A= (p.Tyr588=)
c.1661A= (p.Tyr554=)
c.1760A= (p.Tyr587=)
n.2368A=
9g.136430316_136430318dupCA2580080898INPP5Ec.1761_1763dup (p.Tyr588Ter)
c.1659_1661dup (p.Tyr554Ter)
c.1758_1760dup (p.Tyr587Ter)
n.2366_2368dup
 ClinVar gnomAD v4
9g.136430317A=CA1884224148INPP5Ec.1762T= (p.Tyr588=)
c.1660T= (p.Tyr554=)
c.1759T= (p.Tyr587=)
n.2367T=
9g.136430317A>CCA375561170INPP5Ec.1762T>G (p.Tyr588Asp)
c.1660T>G (p.Tyr554Asp)
c.1759T>G (p.Tyr587Asp)
n.2367T>G
9g.136430317A>GCA375561171INPP5Ec.1762T>C (p.Tyr588His)
c.1660T>C (p.Tyr554His)
c.1759T>C (p.Tyr587His)
n.2367T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.136430317A>TCA375561172INPP5Ec.1762T>A (p.Tyr588Asn)
c.1660T>A (p.Tyr554Asn)
c.1759T>A (p.Tyr587Asn)
n.2367T>A
9g.136430318_136430369dupCA2692611376INPP5Ec.1711_1762dup (p.Tyr588CysfsTer40)
c.1609_1660dup (p.Tyr554CysfsTer40)
c.1708_1759dup (p.Tyr587CysfsTer40)
c.1711_1762dup (p.Tyr588CysfsTer?)
n.2316_2367dup
 gnomAD v4
9g.136430318C>ACA467720051INPP5Ec.1761G>T (p.Val587=)
c.1659G>T (p.Val553=)
c.1758G>T (p.Val586=)
n.2366G>T
 gnomAD v4
9g.136430318C>GCA467720052INPP5Ec.1761G>C (p.Val587=)
c.1659G>C (p.Val553=)
c.1758G>C (p.Val586=)
n.2366G>C
9g.136430318C>TCA467720053INPP5Ec.1761G>A (p.Val587=)
c.1659G>A (p.Val553=)
c.1758G>A (p.Val586=)
n.2366G>A
9g.136430318_136430319delinsCACA1884224149INPP5Ec.1760_1761delinsTG (p.Val587=)
c.1658_1659delinsTG (p.Val553=)
c.1757_1758delinsTG (p.Val586=)
n.2365_2366delinsTG
9g.136430319delCA277691INPP5Ec.1760del (p.Val587GlyfsTer7)
c.1658del (p.Val553GlyfsTer7)
c.1757del (p.Val586GlyfsTer7)
n.2365del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.136430319A>CCA375561173INPP5Ec.1760T>G (p.Val587Gly)
c.1658T>G (p.Val553Gly)
c.1757T>G (p.Val586Gly)
n.2365T>G
9g.136430319A>GCA375561175INPP5Ec.1760T>C (p.Val587Ala)
c.1658T>C (p.Val553Ala)
c.1757T>C (p.Val586Ala)
n.2365T>C
9g.136430319A>TCA375561176INPP5Ec.1760T>A (p.Val587Glu)
c.1658T>A (p.Val553Glu)
c.1757T>A (p.Val586Glu)
n.2365T>A
9g.136430320C>ACA375561179INPP5Ec.1759G>T (p.Val587Leu)
c.1657G>T (p.Val553Leu)
c.1756G>T (p.Val586Leu)
n.2364G>T
9g.136430320C=CA1884224150INPP5Ec.1759G= (p.Val587=)
c.1657G= (p.Val553=)
c.1756G= (p.Val586=)
n.2364G=
9g.136430320C>GCA375561181INPP5Ec.1759G>C (p.Val587Leu)
c.1657G>C (p.Val553Leu)
c.1756G>C (p.Val586Leu)
n.2364G>C
9g.136430320C>TCA375561180INPP5Ec.1759G>A (p.Val587Met)
c.1657G>A (p.Val553Met)
c.1756G>A (p.Val586Met)
n.2364G>A
 ClinVar dbSNP gnomAD v4
9g.136430321A=CA1884224151INPP5Ec.1758T= (p.Pro586=)
c.1656T= (p.Pro552=)
c.1755T= (p.Pro585=)
n.2363T=
9g.136430321A>CCA467720054INPP5Ec.1758T>G (p.Pro586=)
c.1656T>G (p.Pro552=)
c.1755T>G (p.Pro585=)
n.2363T>G
9g.136430321A>GCA467720055INPP5Ec.1758T>C (p.Pro586=)
c.1656T>C (p.Pro552=)
c.1755T>C (p.Pro585=)
n.2363T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.136430321A>TCA467720056INPP5Ec.1758T>A (p.Pro586=)
c.1656T>A (p.Pro552=)
c.1755T>A (p.Pro585=)
n.2363T>A
9g.136430321_136430322delCA2580080904INPP5Ec.1757_1758del (p.Pro586ArgfsTer24)
c.1655_1656del (p.Pro552ArgfsTer24)
c.1754_1755del (p.Pro585ArgfsTer24)
c.1757_1758del (p.Pro586ArgfsTer?)
n.2362_2363del
 ClinVar
9g.136430322G>ACA375561183INPP5Ec.1757C>T (p.Pro586Leu)
c.1655C>T (p.Pro552Leu)
c.1754C>T (p.Pro585Leu)
n.2362C>T
9g.136430322G>CCA375561184INPP5Ec.1757C>G (p.Pro586Arg)
c.1655C>G (p.Pro552Arg)
c.1754C>G (p.Pro585Arg)
n.2362C>G
9g.136430322G>TCA375561186INPP5Ec.1757C>A (p.Pro586His)
c.1655C>A (p.Pro552His)
c.1754C>A (p.Pro585His)
n.2362C>A
9g.136430323G>ACA375561187INPP5Ec.1756C>T (p.Pro586Ser)
c.1654C>T (p.Pro552Ser)
c.1753C>T (p.Pro585Ser)
n.2361C>T
 gnomAD v4
9g.136430323G>CCA375561188INPP5Ec.1756C>G (p.Pro586Ala)
c.1654C>G (p.Pro552Ala)
c.1753C>G (p.Pro585Ala)
n.2361C>G
9g.136430323G>TCA375561190INPP5Ec.1756C>A (p.Pro586Thr)
c.1654C>A (p.Pro552Thr)
c.1753C>A (p.Pro585Thr)
n.2361C>A
9g.136430324G>ACA467720057INPP5Ec.1755C>T (p.Arg585=)
c.1653C>T (p.Arg551=)
c.1752C>T (p.Arg584=)
n.2360C>T
 gnomAD v4
9g.136430324G>CCA467720058INPP5Ec.1755C>G (p.Arg585=)
c.1653C>G (p.Arg551=)
c.1752C>G (p.Arg584=)
n.2360C>G
9g.136430324G>TCA467720059INPP5Ec.1755C>A (p.Arg585=)
c.1653C>A (p.Arg551=)
c.1752C>A (p.Arg584=)
n.2360C>A
 ClinVar dbSNP gnomAD v4
9g.136430325C>ACA375561195INPP5Ec.1754G>T (p.Arg585Leu)
c.1652G>T (p.Arg551Leu)
c.1751G>T (p.Arg584Leu)
n.2359G>T
9g.136430325C=CA1884224152INPP5Ec.1754G= (p.Arg585=)
c.1652G= (p.Arg551=)
c.1751G= (p.Arg584=)
n.2359G=
9g.136430325C>GCA375561191INPP5Ec.1754G>C (p.Arg585Pro)
c.1652G>C (p.Arg551Pro)
c.1751G>C (p.Arg584Pro)
n.2359G>C
9g.136430325C>TCA277739INPP5Ec.1754G>A (p.Arg585His)
c.1652G>A (p.Arg551His)
c.1751G>A (p.Arg584His)
n.2359G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136430326G>ACA5336669INPP5Ec.1753C>T (p.Arg585Cys)
c.1651C>T (p.Arg551Cys)
c.1750C>T (p.Arg584Cys)
n.2358C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136430326G>CCA375561197INPP5Ec.1753C>G (p.Arg585Gly)
c.1651C>G (p.Arg551Gly)
c.1750C>G (p.Arg584Gly)
n.2358C>G
9g.136430326G=CA1884224153INPP5Ec.1753C= (p.Arg585=)
c.1651C= (p.Arg551=)
c.1750C= (p.Arg584=)
n.2358C=
9g.136430326G>TCA375561199INPP5Ec.1753C>A (p.Arg585Ser)
c.1651C>A (p.Arg551Ser)
c.1750C>A (p.Arg584Ser)
n.2358C>A
9g.136430327G>ACA467720060INPP5Ec.1752C>T (p.His584=)
c.1650C>T (p.His550=)
c.1749C>T (p.His583=)
n.2357C>T
 gnomAD v4
9g.136430327G>CCA375561200INPP5Ec.1752C>G (p.His584Gln)
c.1650C>G (p.His550Gln)
c.1749C>G (p.His583Gln)
n.2357C>G
9g.136430327G>TCA375561202INPP5Ec.1752C>A (p.His584Gln)
c.1650C>A (p.His550Gln)
c.1749C>A (p.His583Gln)
n.2357C>A
9g.136430328T>ACA375561203INPP5Ec.1751A>T (p.His584Leu)
c.1649A>T (p.His550Leu)
c.1748A>T (p.His583Leu)
n.2356A>T
9g.136430328T>CCA375561209INPP5Ec.1751A>G (p.His584Arg)
c.1649A>G (p.His550Arg)
c.1748A>G (p.His583Arg)
n.2356A>G
 dbSNP gnomAD v3 gnomAD v4
9g.136430328T>GCA375561205INPP5Ec.1751A>C (p.His584Pro)
c.1649A>C (p.His550Pro)
c.1748A>C (p.His583Pro)
n.2356A>C
 gnomAD v4
9g.136430328T=CA1884224154INPP5Ec.1751A= (p.His584=)
c.1649A= (p.His550=)
c.1748A= (p.His583=)
n.2356A=
9g.136430329G>ACA375561210INPP5Ec.1750C>T (p.His584Tyr)
c.1648C>T (p.His550Tyr)
c.1747C>T (p.His583Tyr)
n.2355C>T
 gnomAD v4
9g.136430329G>CCA375561211INPP5Ec.1750C>G (p.His584Asp)
c.1648C>G (p.His550Asp)
c.1747C>G (p.His583Asp)
n.2355C>G
9g.136430329G>TCA375561213INPP5Ec.1750C>A (p.His584Asn)
c.1648C>A (p.His550Asn)
c.1747C>A (p.His583Asn)
n.2355C>A
 gnomAD v4
9g.136430331_136430350dupCA918577962INPP5Ec.1731_1750dup (p.His584ProfsTer17)
c.1629_1648dup (p.His550ProfsTer17)
c.1728_1747dup (p.His583ProfsTer17)
n.2336_2355dup
 dbSNP
9g.136430330G>ACA467720061INPP5Ec.1749C>T (p.Asp583=)
c.1647C>T (p.Asp549=)
c.1746C>T (p.Asp582=)
n.2354C>T
9g.136430330G>CCA375561215INPP5Ec.1749C>G (p.Asp583Glu)
c.1647C>G (p.Asp549Glu)
c.1746C>G (p.Asp582Glu)
n.2354C>G
9g.136430330G=CA1884224155INPP5Ec.1749C= (p.Asp583=)
c.1647C= (p.Asp549=)
c.1746C= (p.Asp582=)
n.2354C=
9g.136430330G>TCA375561216INPP5Ec.1749C>A (p.Asp583Glu)
c.1647C>A (p.Asp549Glu)
c.1746C>A (p.Asp582Glu)
n.2354C>A
 dbSNP
9g.136430331T>ACA375561218INPP5Ec.1748A>T (p.Asp583Val)
c.1646A>T (p.Asp549Val)
c.1745A>T (p.Asp582Val)
n.2353A>T
9g.136430331T>CCA5336670INPP5Ec.1748A>G (p.Asp583Gly)
c.1646A>G (p.Asp549Gly)
c.1745A>G (p.Asp582Gly)
n.2353A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.136430331T>GCA375561220INPP5Ec.1748A>C (p.Asp583Ala)
c.1646A>C (p.Asp549Ala)
c.1745A>C (p.Asp582Ala)
n.2353A>C
 gnomAD v4
9g.136430331T=CA1884224156INPP5Ec.1748A= (p.Asp583=)
c.1646A= (p.Asp549=)
c.1745A= (p.Asp582=)
n.2353A=
9g.136430332C>ACA375561221INPP5Ec.1747G>T (p.Asp583Tyr)
c.1645G>T (p.Asp549Tyr)
c.1744G>T (p.Asp582Tyr)
n.2352G>T
 ClinVar dbSNP gnomAD v4
9g.136430332C=CA1884224157INPP5Ec.1747G= (p.Asp583=)
c.1645G= (p.Asp549=)
c.1744G= (p.Asp582=)
n.2352G=
9g.136430332C>GCA375561223INPP5Ec.1747G>C (p.Asp583His)
c.1645G>C (p.Asp549His)
c.1744G>C (p.Asp582His)
n.2352G>C
 gnomAD v4
9g.136430332C>TCA5336671INPP5Ec.1747G>A (p.Asp583Asn)
c.1645G>A (p.Asp549Asn)
c.1744G>A (p.Asp582Asn)
n.2352G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136430333G>ACA201638303INPP5Ec.1746C>T (p.Ser582=)
c.1644C>T (p.Ser548=)
c.1743C>T (p.Ser581=)
n.2351C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.136430333G>CCA467720062INPP5Ec.1746C>G (p.Ser582=)
c.1644C>G (p.Ser548=)
c.1743C>G (p.Ser581=)
n.2351C>G
9g.136430333G=CA1884224158INPP5Ec.1746C= (p.Ser582=)
c.1644C= (p.Ser548=)
c.1743C= (p.Ser581=)
n.2351C=
9g.136430333G>TCA467720063INPP5Ec.1746C>A (p.Ser582=)
c.1644C>A (p.Ser548=)
c.1743C>A (p.Ser581=)
n.2351C>A
 gnomAD v4
9g.136430334G>ACA375561226INPP5Ec.1745C>T (p.Ser582Phe)
c.1643C>T (p.Ser548Phe)
c.1742C>T (p.Ser581Phe)
n.2350C>T
 gnomAD v4
9g.136430334G>CCA375561227INPP5Ec.1745C>G (p.Ser582Cys)
c.1643C>G (p.Ser548Cys)
c.1742C>G (p.Ser581Cys)
n.2350C>G
 dbSNP
9g.136430334G=CA1884224159INPP5Ec.1745C= (p.Ser582=)
c.1643C= (p.Ser548=)
c.1742C= (p.Ser581=)
n.2350C=
9g.136430334G>TCA375561225INPP5Ec.1745C>A (p.Ser582Tyr)
c.1643C>A (p.Ser548Tyr)
c.1742C>A (p.Ser581Tyr)
n.2350C>A
 gnomAD v4
9g.136430335A>CCA375561230INPP5Ec.1744T>G (p.Ser582Ala)
n.261T>G
c.1642T>G (p.Ser548Ala)
c.1741T>G (p.Ser581Ala)
n.2349T>G
9g.136430335A>GCA375561229INPP5Ec.1744T>C (p.Ser582Pro)
n.261T>C
c.1642T>C (p.Ser548Pro)
c.1741T>C (p.Ser581Pro)
n.2349T>C
9g.136430335A>TCA375561231INPP5Ec.1744T>A (p.Ser582Thr)
n.261T>A
c.1642T>A (p.Ser548Thr)
c.1741T>A (p.Ser581Thr)
n.2349T>A
9g.136430335_136430336delinsACCA1884224160INPP5Ec.1743_1744delinsGT (p.Thr581=)
n.260_261delinsGT
c.1641_1642delinsGT (p.Thr547=)
c.1740_1741delinsGT (p.Thr580=)
n.2348_2349delinsGT
9g.136430336delCA1884224161INPP5Ec.1743del (p.Ser582ProfsTer12)
n.260del
c.1641del (p.Ser548ProfsTer12)
c.1740del (p.Ser581ProfsTer12)
n.2348del
 dbSNP
9g.136430336C>ACA467720064INPP5Ec.1743G>T (p.Thr581=)
n.260G>T
c.1641G>T (p.Thr547=)
c.1740G>T (p.Thr580=)
n.2348G>T
 gnomAD v4
9g.136430336C=CA1884224162INPP5Ec.1743G= (p.Thr581=)
n.260G=
c.1641G= (p.Thr547=)
c.1740G= (p.Thr580=)
n.2348G=
9g.136430336C>GCA5336673INPP5Ec.1743G>C (p.Thr581=)
n.260G>C
c.1641G>C (p.Thr547=)
c.1740G>C (p.Thr580=)
n.2348G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136430336C>TCA5336672INPP5Ec.1743G>A (p.Thr581=)
n.260G>A
c.1641G>A (p.Thr547=)
c.1740G>A (p.Thr580=)
n.2348G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136430337G>ACA201638310INPP5Ec.1742C>T (p.Thr581Met)
n.259C>T
c.1640C>T (p.Thr547Met)
c.1739C>T (p.Thr580Met)
n.2347C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.136430337G>CCA375561233INPP5Ec.1742C>G (p.Thr581Arg)
n.259C>G
c.1640C>G (p.Thr547Arg)
c.1739C>G (p.Thr580Arg)
n.2347C>G
9g.136430337G=CA1884224163INPP5Ec.1742C= (p.Thr581=)
n.259C=
c.1640C= (p.Thr547=)
c.1739C= (p.Thr580=)
n.2347C=
9g.136430337G>TCA375561234INPP5Ec.1742C>A (p.Thr581Lys)
n.259C>A
c.1640C>A (p.Thr547Lys)
c.1739C>A (p.Thr580Lys)
n.2347C>A
 gnomAD v4
9g.136430338T>ACA375561235INPP5Ec.1741A>T (p.Thr581Ser)
n.258A>T
c.1639A>T (p.Thr547Ser)
c.1738A>T (p.Thr580Ser)
n.2346A>T
 dbSNP gnomAD v2 gnomAD v4
9g.136430338T>CCA375561236INPP5Ec.1741A>G (p.Thr581Ala)
n.258A>G
c.1639A>G (p.Thr547Ala)
c.1738A>G (p.Thr580Ala)
n.2346A>G
 gnomAD v4
9g.136430338T>GCA375561237INPP5Ec.1741A>C (p.Thr581Pro)
n.258A>C
c.1639A>C (p.Thr547Pro)
c.1738A>C (p.Thr580Pro)
n.2346A>C
9g.136430338T=CA1884224164INPP5Ec.1741A= (p.Thr581=)
n.258A=
c.1639A= (p.Thr547=)
c.1738A= (p.Thr580=)
n.2346A=
9g.136430339C>ACA375561239INPP5Ec.1740G>T (p.Lys580Asn)
n.257G>T
c.1638G>T (p.Lys546Asn)
c.1737G>T (p.Lys579Asn)
n.2345G>T
9g.136430339C>GCA375561240INPP5Ec.1740G>C (p.Lys580Asn)
n.257G>C
c.1638G>C (p.Lys546Asn)
c.1737G>C (p.Lys579Asn)
n.2345G>C
 ClinVar
9g.136430339C>TCA467720065INPP5Ec.1740G>A (p.Lys580=)
n.257G>A
c.1638G>A (p.Lys546=)
c.1737G>A (p.Lys579=)
n.2345G>A
9g.136430340T>ACA375561242INPP5Ec.1739A>T (p.Lys580Met)
n.256A>T
c.1637A>T (p.Lys546Met)
c.1736A>T (p.Lys579Met)
n.2344A>T
 gnomAD v4
9g.136430340T>CCA375561243INPP5Ec.1739A>G (p.Lys580Arg)
n.256A>G
c.1637A>G (p.Lys546Arg)
c.1736A>G (p.Lys579Arg)
n.2344A>G
 gnomAD v4
9g.136430340T>GCA375561245INPP5Ec.1739A>C (p.Lys580Thr)
n.256A>C
c.1637A>C (p.Lys546Thr)
c.1736A>C (p.Lys579Thr)
n.2344A>C
9g.136430341T>ACA375561249INPP5Ec.1738A>T (p.Lys580Ter)
n.255A>T
c.1636A>T (p.Lys546Ter)
c.1735A>T (p.Lys579Ter)
n.2343A>T
9g.136430341T>CCA375561247INPP5Ec.1738A>G (p.Lys580Glu)
n.255A>G
c.1636A>G (p.Lys546Glu)
c.1735A>G (p.Lys579Glu)
n.2343A>G
9g.136430341T>GCA375561246INPP5Ec.1738A>C (p.Lys580Gln)
n.255A>C
c.1636A>C (p.Lys546Gln)
c.1735A>C (p.Lys579Gln)
n.2343A>C
9g.136430342G>ACA467720067INPP5Ec.1737C>T (p.Ile579=)
n.254C>T
c.1635C>T (p.Ile545=)
c.1734C>T (p.Ile578=)
n.2342C>T
 gnomAD v4
9g.136430342G>CCA375561250INPP5Ec.1737C>G (p.Ile579Met)
n.254C>G
c.1635C>G (p.Ile545Met)
c.1734C>G (p.Ile578Met)
n.2342C>G
 ClinVar dbSNP
9g.136430342G>TCA467720066INPP5Ec.1737C>A (p.Ile579=)
n.254C>A
c.1635C>A (p.Ile545=)
c.1734C>A (p.Ile578=)
n.2342C>A
 gnomAD v4
9g.136430343A>CCA375561252INPP5Ec.1736T>G (p.Ile579Ser)
n.253T>G
c.1634T>G (p.Ile545Ser)
c.1733T>G (p.Ile578Ser)
n.2341T>G
9g.136430343A>GCA375561254INPP5Ec.1736T>C (p.Ile579Thr)
n.253T>C
c.1634T>C (p.Ile545Thr)
c.1733T>C (p.Ile578Thr)
n.2341T>C
9g.136430343A>TCA375561256INPP5Ec.1736T>A (p.Ile579Asn)
n.253T>A
c.1634T>A (p.Ile545Asn)
c.1733T>A (p.Ile578Asn)
n.2341T>A
9g.136430344T>ACA375561258INPP5Ec.1735A>T (p.Ile579Phe)
n.252A>T
c.1633A>T (p.Ile545Phe)
c.1732A>T (p.Ile578Phe)
n.2340A>T
9g.136430344T>CCA375561259INPP5Ec.1735A>G (p.Ile579Val)
n.252A>G
c.1633A>G (p.Ile545Val)
c.1732A>G (p.Ile578Val)
n.2340A>G
9g.136430344T>GCA375561260INPP5Ec.1735A>C (p.Ile579Leu)
n.252A>C
c.1633A>C (p.Ile545Leu)
c.1732A>C (p.Ile578Leu)
n.2340A>C
9g.136430345C>ACA467720070INPP5Ec.1734G>T (p.Gly578=)
n.251G>T
c.1632G>T (p.Gly544=)
c.1731G>T (p.Gly577=)
n.2339G>T
 dbSNP gnomAD v3 gnomAD v4
9g.136430345C=CA1884224165INPP5Ec.1734G= (p.Gly578=)
n.251G=
c.1632G= (p.Gly544=)
c.1731G= (p.Gly577=)
n.2339G=
9g.136430345C>GCA467720071INPP5Ec.1734G>C (p.Gly578=)
n.251G>C
c.1632G>C (p.Gly544=)
c.1731G>C (p.Gly577=)
n.2339G>C
9g.136430345C>TCA467720069INPP5Ec.1734G>A (p.Gly578=)
n.251G>A
c.1632G>A (p.Gly544=)
c.1731G>A (p.Gly577=)
n.2339G>A
 gnomAD v4
9g.136430346C>ACA375561264INPP5Ec.1733G>T (p.Gly578Val)
n.250G>T
c.1631G>T (p.Gly544Val)
c.1730G>T (p.Gly577Val)
n.2338G>T
 gnomAD v4
9g.136430346C=CA1884224166INPP5Ec.1733G= (p.Gly578=)
n.250G=
c.1631G= (p.Gly544=)
c.1730G= (p.Gly577=)
n.2338G=
9g.136430346C>GCA375561265INPP5Ec.1733G>C (p.Gly578Ala)
n.250G>C
c.1631G>C (p.Gly544Ala)
c.1730G>C (p.Gly577Ala)
n.2338G>C
 gnomAD v4
9g.136430346C>TCA375561266INPP5Ec.1733G>A (p.Gly578Glu)
n.250G>A
c.1631G>A (p.Gly544Glu)
c.1730G>A (p.Gly577Glu)
n.2338G>A
 dbSNP gnomAD v2 gnomAD v4
9g.136430347C>ACA375561268INPP5Ec.1732G>T (p.Gly578Trp)
n.249G>T
c.1630G>T (p.Gly544Trp)
c.1729G>T (p.Gly577Trp)
n.2337G>T
 gnomAD v4
9g.136430347C=CA1884224167INPP5Ec.1732G= (p.Gly578=)
n.249G=
c.1630G= (p.Gly544=)
c.1729G= (p.Gly577=)
n.2337G=
9g.136430347C>GCA375561270INPP5Ec.1732G>C (p.Gly578Arg)
n.249G>C
c.1630G>C (p.Gly544Arg)
c.1729G>C (p.Gly577Arg)
n.2337G>C
9g.136430347C>TCA208042INPP5Ec.1732G>A (p.Gly578Arg)
n.249G>A
c.1630G>A (p.Gly544Arg)
c.1729G>A (p.Gly577Arg)
n.2337G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.136430348G>ACA5336674INPP5Ec.1731C>T (p.Pro577=)
n.248C>T
c.1629C>T (p.Pro543=)
c.1728C>T (p.Pro576=)
n.2336C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136430348G>CCA467720072INPP5Ec.1731C>G (p.Pro577=)
n.248C>G
c.1629C>G (p.Pro543=)
c.1728C>G (p.Pro576=)
n.2336C>G
 gnomAD v4
9g.136430348G=CA1884224168INPP5Ec.1731C= (p.Pro577=)
n.248C=
c.1629C= (p.Pro543=)
c.1728C= (p.Pro576=)
n.2336C=
9g.136430348G>TCA467720073INPP5Ec.1731C>A (p.Pro577=)
n.248C>A
c.1629C>A (p.Pro543=)
c.1728C>A (p.Pro576=)
n.2336C>A
 gnomAD v4
9g.136430349G>ACA375561274INPP5Ec.1730C>T (p.Pro577Leu)
n.247C>T
c.1628C>T (p.Pro543Leu)
c.1727C>T (p.Pro576Leu)
n.2335C>T
 gnomAD v4
9g.136430349G>CCA5336675INPP5Ec.1730C>G (p.Pro577Arg)
n.247C>G
c.1628C>G (p.Pro543Arg)
c.1727C>G (p.Pro576Arg)
n.2335C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136430349G=CA1884224169INPP5Ec.1730C= (p.Pro577=)
n.247C=
c.1628C= (p.Pro543=)
c.1727C= (p.Pro576=)
n.2335C=
9g.136430349G>TCA375561272INPP5Ec.1730C>A (p.Pro577His)
n.247C>A
c.1628C>A (p.Pro543His)
c.1727C>A (p.Pro576His)
n.2335C>A
9g.136430350G>ACA375561275INPP5Ec.1729C>T (p.Pro577Ser)
n.246C>T
c.1627C>T (p.Pro543Ser)
c.1726C>T (p.Pro576Ser)
n.2334C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.136430350G>CCA375561276INPP5Ec.1729C>G (p.Pro577Ala)
n.246C>G
c.1627C>G (p.Pro543Ala)
c.1726C>G (p.Pro576Ala)
n.2334C>G
9g.136430350G=CA1884224170INPP5Ec.1729C= (p.Pro577=)
n.246C=
c.1627C= (p.Pro543=)
c.1726C= (p.Pro576=)
n.2334C=
9g.136430350G>TCA375561278INPP5Ec.1729C>A (p.Pro577Thr)
n.246C>A
c.1627C>A (p.Pro543Thr)
c.1726C>A (p.Pro576Thr)
n.2334C>A
 gnomAD v4
9g.136430351G>ACA467720074INPP5Ec.1728C>T (p.Cys576=)
n.245C>T
c.1626C>T (p.Cys542=)
c.1725C>T (p.Cys575=)
n.2333C>T
 dbSNP gnomAD v4
9g.136430351G>CCA375561279INPP5Ec.1728C>G (p.Cys576Trp)
n.245C>G
c.1626C>G (p.Cys542Trp)
c.1725C>G (p.Cys575Trp)
n.2333C>G
 gnomAD v4
9g.136430351G>TCA375561281INPP5Ec.1728C>A (p.Cys576Ter)
n.245C>A
c.1626C>A (p.Cys542Ter)
c.1725C>A (p.Cys575Ter)
n.2333C>A
 gnomAD v4
9g.136430352C>ACA375561282INPP5Ec.1727G>T (p.Cys576Phe)
n.244G>T
c.1625G>T (p.Cys542Phe)
c.1724G>T (p.Cys575Phe)
n.2332G>T
 gnomAD v4
9g.136430352C>GCA375561284INPP5Ec.1727G>C (p.Cys576Ser)
n.244G>C
c.1625G>C (p.Cys542Ser)
c.1724G>C (p.Cys575Ser)
n.2332G>C
 gnomAD v4
9g.136430352C>TCA375561285INPP5Ec.1727G>A (p.Cys576Tyr)
n.244G>A
c.1625G>A (p.Cys542Tyr)
c.1724G>A (p.Cys575Tyr)
n.2332G>A
 gnomAD v4
9g.136430353A>CCA375561287INPP5Ec.1726T>G (p.Cys576Gly)
n.243T>G
c.1624T>G (p.Cys542Gly)
c.1723T>G (p.Cys575Gly)
n.2331T>G
 ClinVar dbSNP
9g.136430353A>GCA375561289INPP5Ec.1726T>C (p.Cys576Arg)
n.243T>C
c.1624T>C (p.Cys542Arg)
c.1723T>C (p.Cys575Arg)
n.2331T>C
 gnomAD v4
9g.136430353A>TCA375561291INPP5Ec.1726T>A (p.Cys576Ser)
n.243T>A
c.1624T>A (p.Cys542Ser)
c.1723T>A (p.Cys575Ser)
n.2331T>A
 gnomAD v4
9g.136430354G>ACA467720075INPP5Ec.1725C>T (p.Ser575=)
n.242C>T
c.1623C>T (p.Ser541=)
c.1722C>T (p.Ser574=)
n.2330C>T
 gnomAD v4
9g.136430354G>CCA467720076INPP5Ec.1725C>G (p.Ser575=)
n.242C>G
c.1623C>G (p.Ser541=)
c.1722C>G (p.Ser574=)
n.2330C>G
9g.136430354G>TCA467720077INPP5Ec.1725C>A (p.Ser575=)
n.242C>A
c.1623C>A (p.Ser541=)
c.1722C>A (p.Ser574=)
n.2330C>A
 gnomAD v4
9g.136430355G>ACA375561295INPP5Ec.1724C>T (p.Ser575Phe)
n.241C>T
c.1622C>T (p.Ser541Phe)
c.1721C>T (p.Ser574Phe)
n.2329C>T
 dbSNP gnomAD v2
9g.136430355G>CCA375561294INPP5Ec.1724C>G (p.Ser575Cys)
n.241C>G
c.1622C>G (p.Ser541Cys)
c.1721C>G (p.Ser574Cys)
n.2329C>G
 gnomAD v4
9g.136430355G=CA1884224171INPP5Ec.1724C= (p.Ser575=)
n.241C=
c.1622C= (p.Ser541=)
c.1721C= (p.Ser574=)
n.2329C=
9g.136430355G>TCA375561292INPP5Ec.1724C>A (p.Ser575Tyr)
n.241C>A
c.1622C>A (p.Ser541Tyr)
c.1721C>A (p.Ser574Tyr)
n.2329C>A
 gnomAD v4
9g.136430356A=CA1884224172INPP5Ec.1723T= (p.Ser575=)
n.240T=
c.1621T= (p.Ser541=)
c.1720T= (p.Ser574=)
n.2328T=
9g.136430356A>CCA375561296INPP5Ec.1723T>G (p.Ser575Ala)
n.240T>G
c.1621T>G (p.Ser541Ala)
c.1720T>G (p.Ser574Ala)
n.2328T>G
9g.136430356A>GCA5336676INPP5Ec.1723T>C (p.Ser575Pro)
n.240T>C
c.1621T>C (p.Ser541Pro)
c.1720T>C (p.Ser574Pro)
n.2328T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136430356A>TCA375561298INPP5Ec.1723T>A (p.Ser575Thr)
n.240T>A
c.1621T>A (p.Ser541Thr)
c.1720T>A (p.Ser574Thr)
n.2328T>A
 gnomAD v4
9g.136430357A=CA1884224173INPP5Ec.1722T= (p.Ser574=)
n.239T=
c.1620T= (p.Ser540=)
c.1719T= (p.Ser573=)
n.2327T=
9g.136430357A>CCA467720078INPP5Ec.1722T>G (p.Ser574=)
n.239T>G
c.1620T>G (p.Ser540=)
c.1719T>G (p.Ser573=)
n.2327T>G
9g.136430357A>GCA201638324INPP5Ec.1722T>C (p.Ser574=)
n.239T>C
c.1620T>C (p.Ser540=)
c.1719T>C (p.Ser573=)
n.2327T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.136430357A>TCA467720079INPP5Ec.1722T>A (p.Ser574=)
n.239T>A
c.1620T>A (p.Ser540=)
c.1719T>A (p.Ser573=)
n.2327T>A
 gnomAD v4
9g.136430358G>ACA201638327INPP5Ec.1721C>T (p.Ser574Phe)
n.238C>T
c.1619C>T (p.Ser540Phe)
c.1718C>T (p.Ser573Phe)
n.2326C>T
 dbSNP gnomAD v4
9g.136430358G>CCA375561303INPP5Ec.1721C>G (p.Ser574Cys)
n.238C>G
c.1619C>G (p.Ser540Cys)
c.1718C>G (p.Ser573Cys)
n.2326C>G
9g.136430358G=CA1884224174INPP5Ec.1721C= (p.Ser574=)
n.238C=
c.1619C= (p.Ser540=)
c.1718C= (p.Ser573=)
n.2326C=
9g.136430358G>TCA375561304INPP5Ec.1721C>A (p.Ser574Tyr)
n.238C>A
c.1619C>A (p.Ser540Tyr)
c.1718C>A (p.Ser573Tyr)
n.2326C>A
 gnomAD v4
9g.136430359A=CA1884224175INPP5Ec.1720T= (p.Ser574=)
n.237T=
c.1618T= (p.Ser540=)
c.1717T= (p.Ser573=)
n.2325T=
9g.136430359A>CCA375561306INPP5Ec.1720T>G (p.Ser574Ala)
n.237T>G
c.1618T>G (p.Ser540Ala)
c.1717T>G (p.Ser573Ala)
n.2325T>G
 dbSNP
9g.136430359A>GCA375561307INPP5Ec.1720T>C (p.Ser574Pro)
n.237T>C
c.1618T>C (p.Ser540Pro)
c.1717T>C (p.Ser573Pro)
n.2325T>C
 gnomAD v4
9g.136430359A>TCA375561308INPP5Ec.1720T>A (p.Ser574Thr)
n.237T>A
c.1618T>A (p.Ser540Thr)
c.1717T>A (p.Ser573Thr)
n.2325T>A
 gnomAD v4
9g.136430360G>ACA467720080INPP5Ec.1719C>T (p.Tyr573=)
n.236C>T
c.1617C>T (p.Tyr539=)
c.1716C>T (p.Tyr572=)
n.2324C>T
 gnomAD v4
9g.136430360G>CCA375561310INPP5Ec.1719C>G (p.Tyr573Ter)
n.236C>G
c.1617C>G (p.Tyr539Ter)
c.1716C>G (p.Tyr572Ter)
n.2324C>G
9g.136430360G>TCA375561311INPP5Ec.1719C>A (p.Tyr573Ter)
n.236C>A
c.1617C>A (p.Tyr539Ter)
c.1716C>A (p.Tyr572Ter)
n.2324C>A
 gnomAD v4
9g.136430361T>ACA375561315INPP5Ec.1718A>T (p.Tyr573Phe)
n.235A>T
c.1616A>T (p.Tyr539Phe)
c.1715A>T (p.Tyr572Phe)
n.2323A>T
9g.136430361T>CCA375561314INPP5Ec.1718A>G (p.Tyr573Cys)
n.235A>G
c.1616A>G (p.Tyr539Cys)
c.1715A>G (p.Tyr572Cys)
n.2323A>G
9g.136430361T>GCA375561313INPP5Ec.1718A>C (p.Tyr573Ser)
n.235A>C
c.1616A>C (p.Tyr539Ser)
c.1715A>C (p.Tyr572Ser)
n.2323A>C
9g.136430362A>CCA375561316INPP5Ec.1717T>G (p.Tyr573Asp)
n.234T>G
c.1615T>G (p.Tyr539Asp)
c.1714T>G (p.Tyr572Asp)
n.2322T>G
9g.136430362A>GCA375561318INPP5Ec.1717T>C (p.Tyr573His)
n.234T>C
c.1615T>C (p.Tyr539His)
c.1714T>C (p.Tyr572His)
n.2322T>C
 gnomAD v4
9g.136430362A>TCA375561317INPP5Ec.1717T>A (p.Tyr573Asn)
n.234T>A
c.1615T>A (p.Tyr539Asn)
c.1714T>A (p.Tyr572Asn)
n.2322T>A
 gnomAD v4
9g.136430363G>ACA201638328INPP5Ec.1716C>T (p.Ser572=)
n.233C>T
c.1614C>T (p.Ser538=)
c.1713C>T (p.Ser571=)
n.2321C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.136430363G>CCA375561320INPP5Ec.1716C>G (p.Ser572Arg)
n.233C>G
c.1614C>G (p.Ser538Arg)
c.1713C>G (p.Ser571Arg)
n.2321C>G
 gnomAD v4
9g.136430363G=CA1884224176INPP5Ec.1716C= (p.Ser572=)
n.233C=
c.1614C= (p.Ser538=)
c.1713C= (p.Ser571=)
n.2321C=
9g.136430363G>TCA375561321INPP5Ec.1716C>A (p.Ser572Arg)
n.233C>A
c.1614C>A (p.Ser538Arg)
c.1713C>A (p.Ser571Arg)
n.2321C>A
 dbSNP gnomAD v3 gnomAD v4
9g.136430364C>ACA375561323INPP5Ec.1715G>T (p.Ser572Ile)
n.232G>T
c.1613G>T (p.Ser538Ile)
c.1712G>T (p.Ser571Ile)
n.2320G>T
 gnomAD v4
9g.136430364C=CA1884224177INPP5Ec.1715G= (p.Ser572=)
n.232G=
c.1613G= (p.Ser538=)
c.1712G= (p.Ser571=)
n.2320G=
9g.136430364C>GCA375561324INPP5Ec.1715G>C (p.Ser572Thr)
n.232G>C
c.1613G>C (p.Ser538Thr)
c.1712G>C (p.Ser571Thr)
n.2320G>C
9g.136430364C>TCA5336677INPP5Ec.1715G>A (p.Ser572Asn)
n.232G>A
c.1613G>A (p.Ser538Asn)
c.1712G>A (p.Ser571Asn)
n.2320G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.136430365T>ACA375561326INPP5Ec.1714A>T (p.Ser572Cys)
n.231A>T
c.1612A>T (p.Ser538Cys)
c.1711A>T (p.Ser571Cys)
n.2319A>T
9g.136430365T>CCA201638333INPP5Ec.1714A>G (p.Ser572Gly)
n.231A>G
c.1612A>G (p.Ser538Gly)
c.1711A>G (p.Ser571Gly)
n.2319A>G
 dbSNP
9g.136430365T>GCA375561328INPP5Ec.1714A>C (p.Ser572Arg)
n.231A>C
c.1612A>C (p.Ser538Arg)
c.1711A>C (p.Ser571Arg)
n.2319A>C
9g.136430365T=CA1884224178INPP5Ec.1714A= (p.Ser572=)
n.231A=
c.1612A= (p.Ser538=)
c.1711A= (p.Ser571=)
n.2319A=
9g.136430366C>ACA467720083INPP5Ec.1713G>T (p.Val571=)
n.230G>T
c.1611G>T (p.Val537=)
c.1710G>T (p.Val570=)
n.2318G>T
 gnomAD v4
9g.136430366C>GCA467720082INPP5Ec.1713G>C (p.Val571=)
n.230G>C
c.1611G>C (p.Val537=)
c.1710G>C (p.Val570=)
n.2318G>C
 gnomAD v4
9g.136430366C>TCA467720081INPP5Ec.1713G>A (p.Val571=)
n.230G>A
c.1611G>A (p.Val537=)
c.1710G>A (p.Val570=)
n.2318G>A
 gnomAD v4
9g.136430367A>CCA375561329INPP5Ec.1712T>G (p.Val571Gly)
n.229T>G
c.1610T>G (p.Val537Gly)
c.1709T>G (p.Val570Gly)
n.2317T>G
 gnomAD v4
9g.136430367A>GCA375561331INPP5Ec.1712T>C (p.Val571Ala)
n.229T>C
c.1610T>C (p.Val537Ala)
c.1709T>C (p.Val570Ala)
n.2317T>C
 gnomAD v4
9g.136430367A>TCA375561332INPP5Ec.1712T>A (p.Val571Glu)
n.229T>A
c.1610T>A (p.Val537Glu)
c.1709T>A (p.Val570Glu)
n.2317T>A
9g.136430368C>ACA375561335INPP5Ec.1711G>T (p.Val571Leu)
n.228G>T
c.1609G>T (p.Val537Leu)
c.1708G>T (p.Val570Leu)
n.2316G>T
 gnomAD v4
9g.136430368C>GCA375561333INPP5Ec.1711G>C (p.Val571Leu)
n.228G>C
c.1609G>C (p.Val537Leu)
c.1708G>C (p.Val570Leu)
n.2316G>C
 gnomAD v4
9g.136430368C>TCA375561334INPP5Ec.1711G>A (p.Val571Met)
n.228G>A
c.1609G>A (p.Val537Met)
c.1708G>A (p.Val570Met)
n.2316G>A
 gnomAD v4
9g.136430369A>CCA467720084INPP5Ec.1710T>G (p.Pro570=)
n.227T>G
c.1608T>G (p.Pro536=)
c.1707T>G (p.Pro569=)
n.2315T>G
9g.136430369A>GCA467720086INPP5Ec.1710T>C (p.Pro570=)
n.227T>C
c.1608T>C (p.Pro536=)
c.1707T>C (p.Pro569=)
n.2315T>C
 gnomAD v4
9g.136430369A>TCA467720085INPP5Ec.1710T>A (p.Pro570=)
n.227T>A
c.1608T>A (p.Pro536=)
c.1707T>A (p.Pro569=)
n.2315T>A
 gnomAD v4
9g.136430370G>ACA375561336INPP5Ec.1709C>T (p.Pro570Leu)
n.226C>T
c.1607C>T (p.Pro536Leu)
c.1706C>T (p.Pro569Leu)
n.2314C>T
 dbSNP gnomAD v4
9g.136430370G>CCA375561337INPP5Ec.1709C>G (p.Pro570Arg)
n.226C>G
c.1607C>G (p.Pro536Arg)
c.1706C>G (p.Pro569Arg)
n.2314C>G
9g.136430370G=CA1884224179INPP5Ec.1709C= (p.Pro570=)
n.226C=
c.1607C= (p.Pro536=)
c.1706C= (p.Pro569=)
n.2314C=
9g.136430370G>TCA375561338INPP5Ec.1709C>A (p.Pro570His)
n.226C>A
c.1607C>A (p.Pro536His)
c.1706C>A (p.Pro569His)
n.2314C>A
 gnomAD v4
9g.136430371G>ACA375561340INPP5Ec.1708C>T (p.Pro570Ser)
n.225C>T
c.1606C>T (p.Pro536Ser)
c.1705C>T (p.Pro569Ser)
n.2313C>T
 gnomAD v4
9g.136430371G>CCA375561341INPP5Ec.1708C>G (p.Pro570Ala)
n.225C>G
c.1606C>G (p.Pro536Ala)
c.1705C>G (p.Pro569Ala)
n.2313C>G
9g.136430371G>TCA375561343INPP5Ec.1708C>A (p.Pro570Thr)
n.225C>A
c.1606C>A (p.Pro536Thr)
c.1705C>A (p.Pro569Thr)
n.2313C>A
 gnomAD v4
9g.136430372A>CCA375561344INPP5Ec.1707T>G (p.Cys569Trp)
n.224T>G
c.1605T>G (p.Cys535Trp)
c.1704T>G (p.Cys568Trp)
n.2312T>G
9g.136430372A>GCA467720087INPP5Ec.1707T>C (p.Cys569=)
n.224T>C
c.1605T>C (p.Cys535=)
c.1704T>C (p.Cys568=)
n.2312T>C
 gnomAD v4
9g.136430372A>TCA375561345INPP5Ec.1707T>A (p.Cys569Ter)
n.224T>A
c.1605T>A (p.Cys535Ter)
c.1704T>A (p.Cys568Ter)
n.2312T>A
 gnomAD v4
9g.136430373C>ACA375561347INPP5Ec.1706G>T (p.Cys569Phe)
n.223G>T
c.1604G>T (p.Cys535Phe)
c.1703G>T (p.Cys568Phe)
n.2311G>T
 gnomAD v4
9g.136430373C>GCA375561349INPP5Ec.1706G>C (p.Cys569Ser)
n.223G>C
c.1604G>C (p.Cys535Ser)
c.1703G>C (p.Cys568Ser)
n.2311G>C
 gnomAD v4
9g.136430373C>TCA375561351INPP5Ec.1706G>A (p.Cys569Tyr)
n.223G>A
c.1604G>A (p.Cys535Tyr)
c.1703G>A (p.Cys568Tyr)
n.2311G>A
 gnomAD v4
9g.136430374A=CA1884224180INPP5Ec.1705T= (p.Cys569=)
n.222T=
c.1603T= (p.Cys535=)
c.1702T= (p.Cys568=)
n.2310T=
9g.136430374A>CCA375561353INPP5Ec.1705T>G (p.Cys569Gly)
n.222T>G
c.1603T>G (p.Cys535Gly)
c.1702T>G (p.Cys568Gly)
n.2310T>G
 gnomAD v4
9g.136430374A>GCA375561355INPP5Ec.1705T>C (p.Cys569Arg)
n.222T>C
c.1603T>C (p.Cys535Arg)
c.1702T>C (p.Cys568Arg)
n.2310T>C
 dbSNP gnomAD v4
9g.136430374A>TCA375561352INPP5Ec.1705T>A (p.Cys569Ser)
n.222T>A
c.1603T>A (p.Cys535Ser)
c.1702T>A (p.Cys568Ser)
n.2310T>A
 dbSNP
9g.136430375G>ACA467720089INPP5Ec.1704C>T (p.Ile568=)
n.221C>T
c.1602C>T (p.Ile534=)
c.1701C>T (p.Ile567=)
n.2309C>T
 gnomAD v4
9g.136430375G>CCA375561356INPP5Ec.1704C>G (p.Ile568Met)
n.221C>G
c.1602C>G (p.Ile534Met)
c.1701C>G (p.Ile567Met)
n.2309C>G
 gnomAD v4
9g.136430375G>TCA467720088INPP5Ec.1704C>A (p.Ile568=)
n.221C>A
c.1602C>A (p.Ile534=)
c.1701C>A (p.Ile567=)
n.2309C>A
 gnomAD v4
9g.136430376A>CCA375561358INPP5Ec.1703T>G (p.Ile568Ser)
n.220T>G
c.1601T>G (p.Ile534Ser)
c.1700T>G (p.Ile567Ser)
n.2308T>G
9g.136430376A>GCA375561359INPP5Ec.1703T>C (p.Ile568Thr)
n.220T>C
c.1601T>C (p.Ile534Thr)
c.1700T>C (p.Ile567Thr)
n.2308T>C
9g.136430376A>TCA375561360INPP5Ec.1703T>A (p.Ile568Asn)
n.220T>A
c.1601T>A (p.Ile534Asn)
c.1700T>A (p.Ile567Asn)
n.2308T>A
9g.136430377T>ACA375561362INPP5Ec.1702A>T (p.Ile568Phe)
n.219A>T
c.1600A>T (p.Ile534Phe)
c.1699A>T (p.Ile567Phe)
n.2307A>T
9g.136430377T>CCA375561363INPP5Ec.1702A>G (p.Ile568Val)
n.219A>G
c.1600A>G (p.Ile534Val)
c.1699A>G (p.Ile567Val)
n.2307A>G
 gnomAD v4
9g.136430377T>GCA375561364INPP5Ec.1702A>C (p.Ile568Leu)
n.219A>C
c.1600A>C (p.Ile534Leu)
c.1699A>C (p.Ile567Leu)
n.2307A>C
9g.136430378G>ACA201638336INPP5Ec.1701C>T (p.Asp567=)
n.218C>T
c.1599C>T (p.Asp533=)
c.1698C>T (p.Asp566=)
n.2306C>T
 dbSNP gnomAD v4
9g.136430378G>CCA375561366INPP5Ec.1701C>G (p.Asp567Glu)
n.218C>G
c.1599C>G (p.Asp533Glu)
c.1698C>G (p.Asp566Glu)
n.2306C>G
9g.136430378G=CA1884224181INPP5Ec.1701C= (p.Asp567=)
n.218C=
c.1599C= (p.Asp533=)
c.1698C= (p.Asp566=)
n.2306C=
9g.136430378G>TCA375561367INPP5Ec.1701C>A (p.Asp567Glu)
n.218C>A
c.1599C>A (p.Asp533Glu)
c.1698C>A (p.Asp566Glu)
n.2306C>A
 COSMIC
9g.136430379T>ACA5336678INPP5Ec.1700A>T (p.Asp567Val)
n.217A>T
c.1598A>T (p.Asp533Val)
c.1697A>T (p.Asp566Val)
n.2305A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136430379T>CCA375561369INPP5Ec.1700A>G (p.Asp567Gly)
n.217A>G
c.1598A>G (p.Asp533Gly)
c.1697A>G (p.Asp566Gly)
n.2305A>G
9g.136430379T>GCA375561370INPP5Ec.1700A>C (p.Asp567Ala)
n.217A>C
c.1598A>C (p.Asp533Ala)
c.1697A>C (p.Asp566Ala)
n.2305A>C
9g.136430379T=CA1884224182INPP5Ec.1700A= (p.Asp567=)
n.217A=
c.1598A= (p.Asp533=)
c.1697A= (p.Asp566=)
n.2305A=
9g.136430380C>ACA375561374INPP5Ec.1699G>T (p.Asp567Tyr)
n.216G>T
c.1597G>T (p.Asp533Tyr)
c.1696G>T (p.Asp566Tyr)
n.2304G>T
 gnomAD v4
9g.136430380C>GCA375561373INPP5Ec.1699G>C (p.Asp567His)
n.216G>C
c.1597G>C (p.Asp533His)
c.1696G>C (p.Asp566His)
n.2304G>C
9g.136430380C>TCA375561372INPP5Ec.1699G>A (p.Asp567Asn)
n.216G>A
c.1597G>A (p.Asp533Asn)
c.1696G>A (p.Asp566Asn)
n.2304G>A
 gnomAD v4
9g.136430381A=CA1884224183INPP5Ec.1698T= (p.Gly566=)
n.215T=
c.1596T= (p.Gly532=)
c.1695T= (p.Gly565=)
n.2303T=
9g.136430381A>CCA467720090INPP5Ec.1698T>G (p.Gly566=)
n.215T>G
c.1596T>G (p.Gly532=)
c.1695T>G (p.Gly565=)
n.2303T>G
 dbSNP
9g.136430381A>GCA467720091INPP5Ec.1698T>C (p.Gly566=)
n.215T>C
c.1596T>C (p.Gly532=)
c.1695T>C (p.Gly565=)
n.2303T>C
 gnomAD v4 COSMIC
9g.136430381A>TCA467720092INPP5Ec.1698T>A (p.Gly566=)
n.215T>A
c.1596T>A (p.Gly532=)
c.1695T>A (p.Gly565=)
n.2303T>A
 gnomAD v4
9g.136430382C>ACA375561376INPP5Ec.1697G>T (p.Gly566Val)
n.214G>T
c.1595G>T (p.Gly532Val)
c.1694G>T (p.Gly565Val)
n.2302G>T
 gnomAD v4
9g.136430382C=CA1884224184INPP5Ec.1697G= (p.Gly566=)
n.214G=
c.1595G= (p.Gly532=)
c.1694G= (p.Gly565=)
n.2302G=
9g.136430382C>GCA375561377INPP5Ec.1697G>C (p.Gly566Ala)
n.214G>C
c.1595G>C (p.Gly532Ala)
c.1694G>C (p.Gly565Ala)
n.2302G>C
9g.136430382C>TCA5336679INPP5Ec.1697G>A (p.Gly566Asp)
n.214G>A
c.1595G>A (p.Gly532Asp)
c.1694G>A (p.Gly565Asp)
n.2302G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136430383C>ACA375561378INPP5Ec.1696G>T (p.Gly566Cys)
n.213G>T
c.1594G>T (p.Gly532Cys)
c.1693G>T (p.Gly565Cys)
n.2301G>T
 gnomAD v4 COSMIC
9g.136430383C=CA1884224185INPP5Ec.1696G= (p.Gly566=)
n.213G=
c.1594G= (p.Gly532=)
c.1693G= (p.Gly565=)
n.2301G=
9g.136430383C>GCA375561379INPP5Ec.1696G>C (p.Gly566Arg)
n.213G>C
c.1594G>C (p.Gly532Arg)
c.1693G>C (p.Gly565Arg)
n.2301G>C
9g.136430383C>TCA375561380INPP5Ec.1696G>A (p.Gly566Ser)
n.213G>A
c.1594G>A (p.Gly532Ser)
c.1693G>A (p.Gly565Ser)
n.2301G>A
 dbSNP gnomAD v4
9g.136430384C>ACA375561383INPP5Ec.1695G>T (p.Lys565Asn)
n.212G>T
c.1593G>T (p.Lys531Asn)
c.1692G>T (p.Lys564Asn)
n.2300G>T
 gnomAD v4
9g.136430384C=CA1884224186INPP5Ec.1695G= (p.Lys565=)
n.212G=
c.1593G= (p.Lys531=)
c.1692G= (p.Lys564=)
n.2300G=
9g.136430384C>GCA375561384INPP5Ec.1695G>C (p.Lys565Asn)
n.212G>C
c.1593G>C (p.Lys531Asn)
c.1692G>C (p.Lys564Asn)
n.2300G>C
9g.136430384C>TCA467720093INPP5Ec.1695G>A (p.Lys565=)
n.212G>A
c.1593G>A (p.Lys531=)
c.1692G>A (p.Lys564=)
n.2300G>A
 dbSNP gnomAD v2 gnomAD v4
9g.136430385T>ACA375561386INPP5Ec.1694A>T (p.Lys565Met)
n.211A>T
c.1592A>T (p.Lys531Met)
c.1691A>T (p.Lys564Met)
n.2299A>T
 gnomAD v4
9g.136430385T>CCA375561387INPP5Ec.1694A>G (p.Lys565Arg)
n.211A>G
c.1592A>G (p.Lys531Arg)
c.1691A>G (p.Lys564Arg)
n.2299A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.136430385T>GCA375561389INPP5Ec.1694A>C (p.Lys565Thr)
n.211A>C
c.1592A>C (p.Lys531Thr)
c.1691A>C (p.Lys564Thr)
n.2299A>C
9g.136430385T=CA1884224187INPP5Ec.1694A= (p.Lys565=)
n.211A=
c.1592A= (p.Lys531=)
c.1691A= (p.Lys564=)
n.2299A=
9g.136430386T>ACA375561390INPP5Ec.1693A>T (p.Lys565Ter)
n.210A>T
c.1591A>T (p.Lys531Ter)
c.1690A>T (p.Lys564Ter)
n.2298A>T
9g.136430386T>CCA201638343INPP5Ec.1693A>G (p.Lys565Glu)
n.210A>G
c.1591A>G (p.Lys531Glu)
c.1690A>G (p.Lys564Glu)
n.2298A>G
 dbSNP gnomAD v4
9g.136430386T>GCA375561392INPP5Ec.1693A>C (p.Lys565Gln)
n.210A>C
c.1591A>C (p.Lys531Gln)
c.1690A>C (p.Lys564Gln)
n.2298A>C
9g.136430386T=CA1884224188INPP5Ec.1693A= (p.Lys565=)
n.210A=
c.1591A= (p.Lys531=)
c.1690A= (p.Lys564=)
n.2298A=
9g.136430387G>ACA467720094INPP5Ec.1692C>T (p.His564=)
n.209C>T
c.1590C>T (p.His530=)
c.1689C>T (p.His563=)
n.2297C>T
 gnomAD v4
9g.136430387G>CCA375561393INPP5Ec.1692C>G (p.His564Gln)
n.209C>G
c.1590C>G (p.His530Gln)
c.1689C>G (p.His563Gln)
n.2297C>G
9g.136430387G=CA1884224189INPP5Ec.1692C= (p.His564=)
n.209C=
c.1590C= (p.His530=)
c.1689C= (p.His563=)
n.2297C=
9g.136430387G>TCA375561394INPP5Ec.1692C>A (p.His564Gln)
n.209C>A
c.1590C>A (p.His530Gln)
c.1689C>A (p.His563Gln)
n.2297C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.136430388T>ACA375561396INPP5Ec.1691A>T (p.His564Leu)
n.208A>T
c.1589A>T (p.His530Leu)
c.1688A>T (p.His563Leu)
n.2296A>T
 gnomAD v4
9g.136430388T>CCA375561399INPP5Ec.1691A>G (p.His564Arg)
n.208A>G
c.1589A>G (p.His530Arg)
c.1688A>G (p.His563Arg)
n.2296A>G
9g.136430388T>GCA375561398INPP5Ec.1691A>C (p.His564Pro)
n.208A>C
c.1589A>C (p.His530Pro)
c.1688A>C (p.His563Pro)
n.2296A>C
9g.136430389G>ACA375561400INPP5Ec.1690C>T (p.His564Tyr)
n.207C>T
c.1588C>T (p.His530Tyr)
c.1687C>T (p.His563Tyr)
n.2295C>T
 dbSNP gnomAD v2 gnomAD v4
9g.136430389G>CCA375561402INPP5Ec.1690C>G (p.His564Asp)
n.207C>G
c.1588C>G (p.His530Asp)
c.1687C>G (p.His563Asp)
n.2295C>G
9g.136430389G=CA1884224190INPP5Ec.1690C= (p.His564=)
n.207C=
c.1588C= (p.His530=)
c.1687C= (p.His563=)
n.2295C=
9g.136430389G>TCA375561401INPP5Ec.1690C>A (p.His564Asn)
n.207C>A
c.1588C>A (p.His530Asn)
c.1687C>A (p.His563Asn)
n.2295C>A
 gnomAD v4
9g.136430390G>ACA467720095INPP5Ec.1689C>T (p.Arg563=)
n.206C>T
c.1587C>T (p.Arg529=)
c.1686C>T (p.Arg562=)
n.2294C>T
9g.136430390G>CCA467720096INPP5Ec.1689C>G (p.Arg563=)
n.206C>G
c.1587C>G (p.Arg529=)
c.1686C>G (p.Arg562=)
n.2294C>G
9g.136430390G>TCA467720097INPP5Ec.1689C>A (p.Arg563=)
n.206C>A
c.1587C>A (p.Arg529=)
c.1686C>A (p.Arg562=)
n.2294C>A
 ClinVar dbSNP gnomAD v4
9g.136430391C>ACA375561403INPP5Ec.1688G>T (p.Arg563Leu)
n.205G>T
c.1586G>T (p.Arg529Leu)
c.1685G>T (p.Arg562Leu)
n.2293G>T
 gnomAD v4
9g.136430391C=CA1884224191INPP5Ec.1688G= (p.Arg563=)
n.205G=
c.1586G= (p.Arg529=)
c.1685G= (p.Arg562=)
n.2293G=
9g.136430391C>GCA375561404INPP5Ec.1688G>C (p.Arg563Pro)
n.205G>C
c.1586G>C (p.Arg529Pro)
c.1685G>C (p.Arg562Pro)
n.2293G>C
9g.136430391C>TCA259596INPP5Ec.1688G>A (p.Arg563His)
n.205G>A
c.1586G>A (p.Arg529His)
c.1685G>A (p.Arg562His)
n.2293G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136430392G>ACA5336680INPP5Ec.1687C>T (p.Arg563Cys)
n.204C>T
c.1585C>T (p.Arg529Cys)
c.1684C>T (p.Arg562Cys)
n.2292C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136430392G>CCA375561405INPP5Ec.1687C>G (p.Arg563Gly)
n.204C>G
c.1585C>G (p.Arg529Gly)
c.1684C>G (p.Arg562Gly)
n.2292C>G
 gnomAD v4
9g.136430392G=CA1884224192INPP5Ec.1687C= (p.Arg563=)
n.204C=
c.1585C= (p.Arg529=)
c.1684C= (p.Arg562=)
n.2292C=
9g.136430392G>TCA375561407INPP5Ec.1687C>A (p.Arg563Ser)
n.204C>A
c.1585C>A (p.Arg529Ser)
c.1684C>A (p.Arg562Ser)
n.2292C>A
 gnomAD v4
9g.136430393G>ACA5336681INPP5Ec.1686C>T (p.Ser562=)
n.203C>T
c.1584C>T (p.Ser528=)
c.1683C>T (p.Ser561=)
n.2291C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136430393G>CCA375561408INPP5Ec.1686C>G (p.Ser562Arg)
n.203C>G
c.1584C>G (p.Ser528Arg)
c.1683C>G (p.Ser561Arg)
n.2291C>G
9g.136430393G=CA1884224193INPP5Ec.1686C= (p.Ser562=)
n.203C=
c.1584C= (p.Ser528=)
c.1683C= (p.Ser561=)
n.2291C=
9g.136430393G>TCA375561409INPP5Ec.1686C>A (p.Ser562Arg)
n.203C>A
c.1584C>A (p.Ser528Arg)
c.1683C>A (p.Ser561Arg)
n.2291C>A
 gnomAD v4
9g.136430394C>ACA375561411INPP5Ec.1685G>T (p.Ser562Ile)
n.202G>T
c.1583G>T (p.Ser528Ile)
c.1682G>T (p.Ser561Ile)
n.2290G>T
 gnomAD v4
9g.136430394C>GCA375561412INPP5Ec.1685G>C (p.Ser562Thr)
n.202G>C
c.1583G>C (p.Ser528Thr)
c.1682G>C (p.Ser561Thr)
n.2290G>C
 dbSNP
9g.136430394C>TCA375561413INPP5Ec.1685G>A (p.Ser562Asn)
n.202G>A
c.1583G>A (p.Ser528Asn)
c.1682G>A (p.Ser561Asn)
n.2290G>A
9g.136430395T>ACA375561415INPP5Ec.1684A>T (p.Ser562Cys)
n.201A>T
c.1582A>T (p.Ser528Cys)
c.1681A>T (p.Ser561Cys)
n.2289A>T
9g.136430395T>CCA279423INPP5Ec.1684A>G (p.Ser562Gly)
n.201A>G
c.1582A>G (p.Ser528Gly)
c.1681A>G (p.Ser561Gly)
n.2289A>G
 ClinVar dbSNP gnomAD v4
9g.136430395T>GCA375561416INPP5Ec.1684A>C (p.Ser562Arg)
n.201A>C
c.1582A>C (p.Ser528Arg)
c.1681A>C (p.Ser561Arg)
n.2289A>C
9g.136430395T=CA1884224194INPP5Ec.1684A= (p.Ser562=)
n.201A=
c.1582A= (p.Ser528=)
c.1681A= (p.Ser561=)
n.2289A=
9g.136430396T>ACA375561418INPP5Ec.1683A>T (p.Arg561Ser)
n.200A>T
c.1581A>T (p.Arg527Ser)
c.1680A>T (p.Arg560Ser)
n.2288A>T
9g.136430396T>CCA467720098INPP5Ec.1683A>G (p.Arg561=)
n.200A>G
c.1581A>G (p.Arg527=)
c.1680A>G (p.Arg560=)
n.2288A>G
9g.136430396T>GCA375561420INPP5Ec.1683A>C (p.Arg561Ser)
n.200A>C
c.1581A>C (p.Arg527Ser)
c.1680A>C (p.Arg560Ser)
n.2288A>C
9g.136430397C>ACA375561421INPP5Ec.1682G>T (p.Arg561Ile)
n.199G>T
c.1580G>T (p.Arg527Ile)
c.1679G>T (p.Arg560Ile)
n.2287G>T
 gnomAD v4
9g.136430397C=CA1884224195INPP5Ec.1682G= (p.Arg561=)
n.199G=
c.1580G= (p.Arg527=)
c.1679G= (p.Arg560=)
n.2287G=
9g.136430397C>GCA375561423INPP5Ec.1682G>C (p.Arg561Thr)
n.199G>C
c.1580G>C (p.Arg527Thr)
c.1679G>C (p.Arg560Thr)
n.2287G>C
9g.136430397C>TCA201638354INPP5Ec.1682G>A (p.Arg561Lys)
n.199G>A
c.1580G>A (p.Arg527Lys)
c.1679G>A (p.Arg560Lys)
n.2287G>A
 dbSNP gnomAD v4
9g.136430398T>ACA375561424INPP5Ec.1681A>T (p.Arg561Ter)
n.198A>T
c.1579A>T (p.Arg527Ter)
c.1678A>T (p.Arg560Ter)
n.2286A>T
9g.136430398T>CCA375561425INPP5Ec.1681A>G (p.Arg561Gly)
n.198A>G
c.1579A>G (p.Arg527Gly)
c.1678A>G (p.Arg560Gly)
n.2286A>G
 gnomAD v4
9g.136430398T>GCA467720101INPP5Ec.1681A>C (p.Arg561=)
n.198A>C
c.1579A>C (p.Arg527=)
c.1678A>C (p.Arg560=)
n.2286A>C
 dbSNP gnomAD v4
9g.136430398T=CA1884224196INPP5Ec.1681A= (p.Arg561=)
n.198A=
c.1579A= (p.Arg527=)
c.1678A= (p.Arg560=)
n.2286A=

Number of alleles fetched