Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.156073A=CA1521945773PLEKHG4Bc.2211A= (p.Glu737=)
c.1143A= (p.Glu381=)
c.885A= (p.Glu295=)
c.2088A= (p.Glu696=)
c.1752A= (p.Glu584=)
n.2333A=
5g.156073A>CCA359002022PLEKHG4Bc.2211A>C (p.Glu737Asp)
c.1143A>C (p.Glu381Asp)
c.885A>C (p.Glu295Asp)
c.2088A>C (p.Glu696Asp)
c.1752A>C (p.Glu584Asp)
n.2333A>C
5g.156073A>GCA442676603PLEKHG4Bc.2211A>G (p.Glu737=)
c.1143A>G (p.Glu381=)
c.885A>G (p.Glu295=)
c.2088A>G (p.Glu696=)
c.1752A>G (p.Glu584=)
n.2333A>G
 dbSNP gnomAD v4
5g.156073A>TCA359002024PLEKHG4Bc.2211A>T (p.Glu737Asp)
c.1143A>T (p.Glu381Asp)
c.885A>T (p.Glu295Asp)
c.2088A>T (p.Glu696Asp)
c.1752A>T (p.Glu584Asp)
n.2333A>T
5g.156074G>ACA359002026PLEKHG4Bc.2212G>A (p.Val738Ile)
c.1144G>A (p.Val382Ile)
c.886G>A (p.Val296Ile)
c.2089G>A (p.Val697Ile)
c.1753G>A (p.Val585Ile)
n.2334G>A
 dbSNP gnomAD v4
5g.156074G>CCA359002027PLEKHG4Bc.2212G>C (p.Val738Leu)
c.1144G>C (p.Val382Leu)
c.886G>C (p.Val296Leu)
c.2089G>C (p.Val697Leu)
c.1753G>C (p.Val585Leu)
n.2334G>C
5g.156074G=CA1521945775PLEKHG4Bc.2212G= (p.Val738=)
c.1144G= (p.Val382=)
c.886G= (p.Val296=)
c.2089G= (p.Val697=)
c.1753G= (p.Val585=)
n.2334G=
5g.156074G>TCA359002028PLEKHG4Bc.2212G>T (p.Val738Phe)
c.1144G>T (p.Val382Phe)
c.886G>T (p.Val296Phe)
c.2089G>T (p.Val697Phe)
c.1753G>T (p.Val585Phe)
n.2334G>T
 dbSNP
5g.156075T>ACA359002030PLEKHG4Bc.2213T>A (p.Val738Asp)
c.1145T>A (p.Val382Asp)
c.887T>A (p.Val296Asp)
c.2090T>A (p.Val697Asp)
c.1754T>A (p.Val585Asp)
n.2335T>A
5g.156075T>CCA359002032PLEKHG4Bc.2213T>C (p.Val738Ala)
c.1145T>C (p.Val382Ala)
c.887T>C (p.Val296Ala)
c.2090T>C (p.Val697Ala)
c.1754T>C (p.Val585Ala)
n.2335T>C
5g.156075T>GCA359002033PLEKHG4Bc.2213T>G (p.Val738Gly)
c.1145T>G (p.Val382Gly)
c.887T>G (p.Val296Gly)
c.2090T>G (p.Val697Gly)
c.1754T>G (p.Val585Gly)
n.2335T>G
5g.156076C>ACA3171074PLEKHG4Bc.2214C>A (p.Val738=)
c.1146C>A (p.Val382=)
c.888C>A (p.Val296=)
c.2091C>A (p.Val697=)
c.1755C>A (p.Val585=)
n.2336C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.156076C=CA1521945779PLEKHG4Bc.2214C= (p.Val738=)
c.1146C= (p.Val382=)
c.888C= (p.Val296=)
c.2091C= (p.Val697=)
c.1755C= (p.Val585=)
n.2336C=
5g.156076C>GCA442676606PLEKHG4Bc.2214C>G (p.Val738=)
c.1146C>G (p.Val382=)
c.888C>G (p.Val296=)
c.2091C>G (p.Val697=)
c.1755C>G (p.Val585=)
n.2336C>G
 gnomAD v4
5g.156076C>TCA3171075PLEKHG4Bc.2214C>T (p.Val738=)
c.1146C>T (p.Val382=)
c.888C>T (p.Val296=)
c.2091C>T (p.Val697=)
c.1755C>T (p.Val585=)
n.2336C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.156077G>ACA3171076PLEKHG4Bc.2215G>A (p.Ala739Thr)
c.1147G>A (p.Ala383Thr)
c.889G>A (p.Ala297Thr)
c.2092G>A (p.Ala698Thr)
c.1756G>A (p.Ala586Thr)
n.2337G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.156077G>CCA359002036PLEKHG4Bc.2215G>C (p.Ala739Pro)
c.1147G>C (p.Ala383Pro)
c.889G>C (p.Ala297Pro)
c.2092G>C (p.Ala698Pro)
c.1756G>C (p.Ala586Pro)
n.2337G>C
5g.156077G=CA1521945780PLEKHG4Bc.2215G= (p.Ala739=)
c.1147G= (p.Ala383=)
c.889G= (p.Ala297=)
c.2092G= (p.Ala698=)
c.1756G= (p.Ala586=)
n.2337G=
5g.156077G>TCA359002038PLEKHG4Bc.2215G>T (p.Ala739Ser)
c.1147G>T (p.Ala383Ser)
c.889G>T (p.Ala297Ser)
c.2092G>T (p.Ala698Ser)
c.1756G>T (p.Ala586Ser)
n.2337G>T
 dbSNP gnomAD v2 gnomAD v4
5g.156078C>ACA359002042PLEKHG4Bc.2216C>A (p.Ala739Asp)
c.1148C>A (p.Ala383Asp)
c.890C>A (p.Ala297Asp)
c.2093C>A (p.Ala698Asp)
c.1757C>A (p.Ala586Asp)
n.2338C>A
 gnomAD v4
5g.156078C=CA1521945784PLEKHG4Bc.2216C= (p.Ala739=)
c.1148C= (p.Ala383=)
c.890C= (p.Ala297=)
c.2093C= (p.Ala698=)
c.1757C= (p.Ala586=)
n.2338C=
5g.156078C>GCA359002041PLEKHG4Bc.2216C>G (p.Ala739Gly)
c.1148C>G (p.Ala383Gly)
c.890C>G (p.Ala297Gly)
c.2093C>G (p.Ala698Gly)
c.1757C>G (p.Ala586Gly)
n.2338C>G
5g.156078C>TCA359002040PLEKHG4Bc.2216C>T (p.Ala739Val)
c.1148C>T (p.Ala383Val)
c.890C>T (p.Ala297Val)
c.2093C>T (p.Ala698Val)
c.1757C>T (p.Ala586Val)
n.2338C>T
 dbSNP gnomAD v2 gnomAD v4
5g.156079C>ACA442676610PLEKHG4Bc.2217C>A (p.Ala739=)
c.1149C>A (p.Ala383=)
c.891C>A (p.Ala297=)
c.2094C>A (p.Ala698=)
c.1758C>A (p.Ala586=)
n.2339C>A
 gnomAD v4
5g.156079C=CA1521945787PLEKHG4Bc.2217C= (p.Ala739=)
c.1149C= (p.Ala383=)
c.891C= (p.Ala297=)
c.2094C= (p.Ala698=)
c.1758C= (p.Ala586=)
n.2339C=
5g.156079C>GCA3171078PLEKHG4Bc.2217C>G (p.Ala739=)
c.1149C>G (p.Ala383=)
c.891C>G (p.Ala297=)
c.2094C>G (p.Ala698=)
c.1758C>G (p.Ala586=)
n.2339C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.156079C>TCA3171077PLEKHG4Bc.2217C>T (p.Ala739=)
c.1149C>T (p.Ala383=)
c.891C>T (p.Ala297=)
c.2094C>T (p.Ala698=)
c.1758C>T (p.Ala586=)
n.2339C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.156080G>ACA3171080PLEKHG4Bc.2218G>A (p.Glu740Lys)
c.1150G>A (p.Glu384Lys)
c.892G>A (p.Glu298Lys)
c.2095G>A (p.Glu699Lys)
c.1759G>A (p.Glu587Lys)
n.2340G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.156080G>CCA359002046PLEKHG4Bc.2218G>C (p.Glu740Gln)
c.1150G>C (p.Glu384Gln)
c.892G>C (p.Glu298Gln)
c.2095G>C (p.Glu699Gln)
c.1759G>C (p.Glu587Gln)
n.2340G>C
5g.156080G=CA1521945790PLEKHG4Bc.2218G= (p.Glu740=)
c.1150G= (p.Glu384=)
c.892G= (p.Glu298=)
c.2095G= (p.Glu699=)
c.1759G= (p.Glu587=)
n.2340G=
5g.156080G>TCA3171079PLEKHG4Bc.2218G>T (p.Glu740Ter)
c.1150G>T (p.Glu384Ter)
c.892G>T (p.Glu298Ter)
c.2095G>T (p.Glu699Ter)
c.1759G>T (p.Glu587Ter)
n.2340G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.156081A>CCA359002049PLEKHG4Bc.2219A>C (p.Glu740Ala)
c.1151A>C (p.Glu384Ala)
c.893A>C (p.Glu298Ala)
c.2096A>C (p.Glu699Ala)
c.1760A>C (p.Glu587Ala)
n.2341A>C
5g.156081A>GCA359002050PLEKHG4Bc.2219A>G (p.Glu740Gly)
c.1151A>G (p.Glu384Gly)
c.893A>G (p.Glu298Gly)
c.2096A>G (p.Glu699Gly)
c.1760A>G (p.Glu587Gly)
n.2341A>G
 gnomAD v4
5g.156081A>TCA359002052PLEKHG4Bc.2219A>T (p.Glu740Val)
c.1151A>T (p.Glu384Val)
c.893A>T (p.Glu298Val)
c.2096A>T (p.Glu699Val)
c.1760A>T (p.Glu587Val)
n.2341A>T
5g.156082G>ACA442676612PLEKHG4Bc.2220G>A (p.Glu740=)
c.1152G>A (p.Glu384=)
c.894G>A (p.Glu298=)
c.2097G>A (p.Glu699=)
c.1761G>A (p.Glu587=)
n.2342G>A
 dbSNP
5g.156082G>CCA359002053PLEKHG4Bc.2220G>C (p.Glu740Asp)
c.1152G>C (p.Glu384Asp)
c.894G>C (p.Glu298Asp)
c.2097G>C (p.Glu699Asp)
c.1761G>C (p.Glu587Asp)
n.2342G>C
5g.156082G>TCA359002054PLEKHG4Bc.2220G>T (p.Glu740Asp)
c.1152G>T (p.Glu384Asp)
c.894G>T (p.Glu298Asp)
c.2097G>T (p.Glu699Asp)
c.1761G>T (p.Glu587Asp)
n.2342G>T
5g.156083T>ACA359002056PLEKHG4Bc.2221T>A (p.Leu741Ile)
c.1153T>A (p.Leu385Ile)
c.895T>A (p.Leu299Ile)
c.2098T>A (p.Leu700Ile)
c.1762T>A (p.Leu588Ile)
n.2343T>A
5g.156083T>CCA442676613PLEKHG4Bc.2221T>C (p.Leu741=)
c.1153T>C (p.Leu385=)
c.895T>C (p.Leu299=)
c.2098T>C (p.Leu700=)
c.1762T>C (p.Leu588=)
n.2343T>C
5g.156083T>GCA359002058PLEKHG4Bc.2221T>G (p.Leu741Val)
c.1153T>G (p.Leu385Val)
c.895T>G (p.Leu299Val)
c.2098T>G (p.Leu700Val)
c.1762T>G (p.Leu588Val)
n.2343T>G
 gnomAD v4
5g.156084T>ACA359002062PLEKHG4Bc.2222T>A (p.Leu741Ter)
c.1154T>A (p.Leu385Ter)
c.896T>A (p.Leu299Ter)
c.2099T>A (p.Leu700Ter)
c.1763T>A (p.Leu588Ter)
n.2344T>A
5g.156084T>CCA359002061PLEKHG4Bc.2222T>C (p.Leu741Ser)
c.1154T>C (p.Leu385Ser)
c.896T>C (p.Leu299Ser)
c.2099T>C (p.Leu700Ser)
c.1763T>C (p.Leu588Ser)
n.2344T>C
 gnomAD v4
5g.156084T>GCA359002060PLEKHG4Bc.2222T>G (p.Leu741Ter)
c.1154T>G (p.Leu385Ter)
c.896T>G (p.Leu299Ter)
c.2099T>G (p.Leu700Ter)
c.1763T>G (p.Leu588Ter)
n.2344T>G
5g.156085A>CCA359002064PLEKHG4Bc.2223A>C (p.Leu741Phe)
c.1155A>C (p.Leu385Phe)
c.897A>C (p.Leu299Phe)
c.2100A>C (p.Leu700Phe)
c.1764A>C (p.Leu588Phe)
n.2345A>C
5g.156085A>GCA442676614PLEKHG4Bc.2223A>G (p.Leu741=)
c.1155A>G (p.Leu385=)
c.897A>G (p.Leu299=)
c.2100A>G (p.Leu700=)
c.1764A>G (p.Leu588=)
n.2345A>G
 gnomAD v4
5g.156085A>TCA359002066PLEKHG4Bc.2223A>T (p.Leu741Phe)
c.1155A>T (p.Leu385Phe)
c.897A>T (p.Leu299Phe)
c.2100A>T (p.Leu700Phe)
c.1764A>T (p.Leu588Phe)
n.2345A>T
5g.156086A=CA1521945794PLEKHG4Bc.2224A= (p.Ile742=)
c.1156A= (p.Ile386=)
c.898A= (p.Ile300=)
c.2101A= (p.Ile701=)
c.1765A= (p.Ile589=)
n.2346A=
5g.156086A>CCA359002067PLEKHG4Bc.2224A>C (p.Ile742Leu)
c.1156A>C (p.Ile386Leu)
c.898A>C (p.Ile300Leu)
c.2101A>C (p.Ile701Leu)
c.1765A>C (p.Ile589Leu)
n.2346A>C
5g.156086A>GCA359002069PLEKHG4Bc.2224A>G (p.Ile742Val)
c.1156A>G (p.Ile386Val)
c.898A>G (p.Ile300Val)
c.2101A>G (p.Ile701Val)
c.1765A>G (p.Ile589Val)
n.2346A>G
5g.156086A>TCA359002070PLEKHG4Bc.2224A>T (p.Ile742Phe)
c.1156A>T (p.Ile386Phe)
c.898A>T (p.Ile300Phe)
c.2101A>T (p.Ile701Phe)
c.1765A>T (p.Ile589Phe)
n.2346A>T
 dbSNP
5g.156087T>ACA359002071PLEKHG4Bc.2225T>A (p.Ile742Asn)
c.1157T>A (p.Ile386Asn)
c.899T>A (p.Ile300Asn)
c.2102T>A (p.Ile701Asn)
c.1766T>A (p.Ile589Asn)
n.2347T>A
5g.156087T>CCA359002073PLEKHG4Bc.2225T>C (p.Ile742Thr)
c.1157T>C (p.Ile386Thr)
c.899T>C (p.Ile300Thr)
c.2102T>C (p.Ile701Thr)
c.1766T>C (p.Ile589Thr)
n.2347T>C
 dbSNP gnomAD v4
5g.156087T>GCA359002075PLEKHG4Bc.2225T>G (p.Ile742Ser)
c.1157T>G (p.Ile386Ser)
c.899T>G (p.Ile300Ser)
c.2102T>G (p.Ile701Ser)
c.1766T>G (p.Ile589Ser)
n.2347T>G
5g.156087T=CA1521945797PLEKHG4Bc.2225T= (p.Ile742=)
c.1157T= (p.Ile386=)
c.899T= (p.Ile300=)
c.2102T= (p.Ile701=)
c.1766T= (p.Ile589=)
n.2347T=
5g.156088T>ACA442676615PLEKHG4Bc.2226T>A (p.Ile742=)
c.1158T>A (p.Ile386=)
c.900T>A (p.Ile300=)
c.2103T>A (p.Ile701=)
c.1767T>A (p.Ile589=)
n.2348T>A
5g.156088T>CCA442676616PLEKHG4Bc.2226T>C (p.Ile742=)
c.1158T>C (p.Ile386=)
c.900T>C (p.Ile300=)
c.2103T>C (p.Ile701=)
c.1767T>C (p.Ile589=)
n.2348T>C
5g.156088T>GCA359002076PLEKHG4Bc.2226T>G (p.Ile742Met)
c.1158T>G (p.Ile386Met)
c.900T>G (p.Ile300Met)
c.2103T>G (p.Ile701Met)
c.1767T>G (p.Ile589Met)
n.2348T>G
5g.156089G>ACA359002078PLEKHG4Bc.2227G>A (p.Asp743Asn)
c.1159G>A (p.Asp387Asn)
c.901G>A (p.Asp301Asn)
c.2104G>A (p.Asp702Asn)
c.1768G>A (p.Asp590Asn)
n.2349G>A
 gnomAD v4 COSMIC
5g.156089G>CCA359002079PLEKHG4Bc.2227G>C (p.Asp743His)
c.1159G>C (p.Asp387His)
c.901G>C (p.Asp301His)
c.2104G>C (p.Asp702His)
c.1768G>C (p.Asp590His)
n.2349G>C
5g.156089G>TCA359002081PLEKHG4Bc.2227G>T (p.Asp743Tyr)
c.1159G>T (p.Asp387Tyr)
c.901G>T (p.Asp301Tyr)
c.2104G>T (p.Asp702Tyr)
c.1768G>T (p.Asp590Tyr)
n.2349G>T
5g.156090A>CCA359002086PLEKHG4Bc.2228A>C (p.Asp743Ala)
c.1160A>C (p.Asp387Ala)
c.902A>C (p.Asp301Ala)
c.2105A>C (p.Asp702Ala)
c.1769A>C (p.Asp590Ala)
n.2350A>C
5g.156090A>GCA359002085PLEKHG4Bc.2228A>G (p.Asp743Gly)
c.1160A>G (p.Asp387Gly)
c.902A>G (p.Asp301Gly)
c.2105A>G (p.Asp702Gly)
c.1769A>G (p.Asp590Gly)
n.2350A>G
 gnomAD v4
5g.156090A>TCA359002083PLEKHG4Bc.2228A>T (p.Asp743Val)
c.1160A>T (p.Asp387Val)
c.902A>T (p.Asp301Val)
c.2105A>T (p.Asp702Val)
c.1769A>T (p.Asp590Val)
n.2350A>T
5g.156090dupCA2672950818PLEKHG4Bc.2228dup (p.Asp743GlufsTer4)
c.1160dup (p.Asp387GlufsTer4)
c.902dup (p.Asp301GlufsTer4)
c.2105dup (p.Asp702GlufsTer4)
c.1769dup (p.Asp590GlufsTer4)
n.2350dup
 gnomAD v4
5g.156091C>ACA359002087PLEKHG4Bc.2229C>A (p.Asp743Glu)
c.1161C>A (p.Asp387Glu)
c.903C>A (p.Asp301Glu)
c.2106C>A (p.Asp702Glu)
c.1770C>A (p.Asp590Glu)
n.2351C>A
 gnomAD v4
5g.156091C=CA1521945801PLEKHG4Bc.2229C= (p.Asp743=)
c.1161C= (p.Asp387=)
c.903C= (p.Asp301=)
c.2106C= (p.Asp702=)
c.1770C= (p.Asp590=)
n.2351C=
5g.156091C>GCA359002089PLEKHG4Bc.2229C>G (p.Asp743Glu)
c.1161C>G (p.Asp387Glu)
c.903C>G (p.Asp301Glu)
c.2106C>G (p.Asp702Glu)
c.1770C>G (p.Asp590Glu)
n.2351C>G
5g.156091C>TCA442676617PLEKHG4Bc.2229C>T (p.Asp743=)
c.1161C>T (p.Asp387=)
c.903C>T (p.Asp301=)
c.2106C>T (p.Asp702=)
c.1770C>T (p.Asp590=)
n.2351C>T
 dbSNP gnomAD v4
5g.156092delCA2672950819PLEKHG4Bc.2230del (p.Gln744SerfsTer5)
c.1162del (p.Gln388SerfsTer5)
c.904del (p.Gln302SerfsTer5)
c.2107del (p.Gln703SerfsTer5)
c.1771del (p.Gln591SerfsTer5)
n.2352del
 gnomAD v4
5g.156092C>ACA359002091PLEKHG4Bc.2230C>A (p.Gln744Lys)
c.1162C>A (p.Gln388Lys)
c.904C>A (p.Gln302Lys)
c.2107C>A (p.Gln703Lys)
c.1771C>A (p.Gln591Lys)
n.2352C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.156092C=CA1521945803PLEKHG4Bc.2230C= (p.Gln744=)
c.1162C= (p.Gln388=)
c.904C= (p.Gln302=)
c.2107C= (p.Gln703=)
c.1771C= (p.Gln591=)
n.2352C=
5g.156092C>GCA359002093PLEKHG4Bc.2230C>G (p.Gln744Glu)
c.1162C>G (p.Gln388Glu)
c.904C>G (p.Gln302Glu)
c.2107C>G (p.Gln703Glu)
c.1771C>G (p.Gln591Glu)
n.2352C>G
5g.156092C>TCA359002094PLEKHG4Bc.2230C>T (p.Gln744Ter)
c.1162C>T (p.Gln388Ter)
c.904C>T (p.Gln302Ter)
c.2107C>T (p.Gln703Ter)
c.1771C>T (p.Gln591Ter)
n.2352C>T
 gnomAD v4
5g.156093A=CA1521945805PLEKHG4Bc.2231A= (p.Gln744=)
c.1163A= (p.Gln388=)
c.905A= (p.Gln302=)
c.2108A= (p.Gln703=)
c.1772A= (p.Gln591=)
n.2353A=
5g.156093A>CCA359002095PLEKHG4Bc.2231A>C (p.Gln744Pro)
c.1163A>C (p.Gln388Pro)
c.905A>C (p.Gln302Pro)
c.2108A>C (p.Gln703Pro)
c.1772A>C (p.Gln591Pro)
n.2353A>C
5g.156093A>GCA3171081PLEKHG4Bc.2231A>G (p.Gln744Arg)
c.1163A>G (p.Gln388Arg)
c.905A>G (p.Gln302Arg)
c.2108A>G (p.Gln703Arg)
c.1772A>G (p.Gln591Arg)
n.2353A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.156093A>TCA359002097PLEKHG4Bc.2231A>T (p.Gln744Leu)
c.1163A>T (p.Gln388Leu)
c.905A>T (p.Gln302Leu)
c.2108A>T (p.Gln703Leu)
c.1772A>T (p.Gln591Leu)
n.2353A>T
5g.156094G>ACA442676618PLEKHG4Bc.2232G>A (p.Gln744=)
c.1164G>A (p.Gln388=)
c.906G>A (p.Gln302=)
c.2109G>A (p.Gln703=)
c.1773G>A (p.Gln591=)
n.2354G>A
 gnomAD v4
5g.156094G>CCA3171082PLEKHG4Bc.2232G>C (p.Gln744His)
c.1164G>C (p.Gln388His)
c.906G>C (p.Gln302His)
c.2109G>C (p.Gln703His)
c.1773G>C (p.Gln591His)
n.2354G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.156094G=CA1521945808PLEKHG4Bc.2232G= (p.Gln744=)
c.1164G= (p.Gln388=)
c.906G= (p.Gln302=)
c.2109G= (p.Gln703=)
c.1773G= (p.Gln591=)
n.2354G=
5g.156094G>TCA359002100PLEKHG4Bc.2232G>T (p.Gln744His)
c.1164G>T (p.Gln388His)
c.906G>T (p.Gln302His)
c.2109G>T (p.Gln703His)
c.1773G>T (p.Gln591His)
n.2354G>T
5g.156095C>ACA359002101PLEKHG4Bc.2233C>A (p.His745Asn)
c.1165C>A (p.His389Asn)
c.907C>A (p.His303Asn)
c.2110C>A (p.His704Asn)
c.1774C>A (p.His592Asn)
n.2355C>A
 gnomAD v4
5g.156095C=CA1521945812PLEKHG4Bc.2233C= (p.His745=)
c.1165C= (p.His389=)
c.907C= (p.His303=)
c.2110C= (p.His704=)
c.1774C= (p.His592=)
n.2355C=
5g.156095C>GCA359002102PLEKHG4Bc.2233C>G (p.His745Asp)
c.1165C>G (p.His389Asp)
c.907C>G (p.His303Asp)
c.2110C>G (p.His704Asp)
c.1774C>G (p.His592Asp)
n.2355C>G
5g.156095C>TCA359002104PLEKHG4Bc.2233C>T (p.His745Tyr)
c.1165C>T (p.His389Tyr)
c.907C>T (p.His303Tyr)
c.2110C>T (p.His704Tyr)
c.1774C>T (p.His592Tyr)
n.2355C>T
 dbSNP
5g.156096A=CA1521945815PLEKHG4Bc.2234A= (p.His745=)
c.1166A= (p.His389=)
c.908A= (p.His303=)
c.2111A= (p.His704=)
c.1775A= (p.His592=)
n.2356A=
5g.156096A>CCA359002107PLEKHG4Bc.2234A>C (p.His745Pro)
c.1166A>C (p.His389Pro)
c.908A>C (p.His303Pro)
c.2111A>C (p.His704Pro)
c.1775A>C (p.His592Pro)
n.2356A>C
5g.156096A>GCA359002109PLEKHG4Bc.2234A>G (p.His745Arg)
c.1166A>G (p.His389Arg)
c.908A>G (p.His303Arg)
c.2111A>G (p.His704Arg)
c.1775A>G (p.His592Arg)
n.2356A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.156096A>TCA359002106PLEKHG4Bc.2234A>T (p.His745Leu)
c.1166A>T (p.His389Leu)
c.908A>T (p.His303Leu)
c.2111A>T (p.His704Leu)
c.1775A>T (p.His592Leu)
n.2356A>T
5g.156097_156099dupCA806016326PLEKHG4Bc.2235_2237dup (p.His745_Glu746insAsp)
c.1167_1169dup (p.His389_Glu390insAsp)
c.909_911dup (p.His303_Glu304insAsp)
c.2112_2114dup (p.His704_Glu705insAsp)
c.1776_1778dup (p.His592_Glu593insAsp)
n.2357_2359dup
 dbSNP gnomAD v4
5g.156097T>ACA359002112PLEKHG4Bc.2235T>A (p.His745Gln)
c.1167T>A (p.His389Gln)
c.909T>A (p.His303Gln)
c.2112T>A (p.His704Gln)
c.1776T>A (p.His592Gln)
n.2357T>A
5g.156097T>CCA442676619PLEKHG4Bc.2235T>C (p.His745=)
c.1167T>C (p.His389=)
c.909T>C (p.His303=)
c.2112T>C (p.His704=)
c.1776T>C (p.His592=)
n.2357T>C
 gnomAD v4
5g.156097T>GCA359002111PLEKHG4Bc.2235T>G (p.His745Gln)
c.1167T>G (p.His389Gln)
c.909T>G (p.His303Gln)
c.2112T>G (p.His704Gln)
c.1776T>G (p.His592Gln)
n.2357T>G
5g.156098G>ACA359002114PLEKHG4Bc.2236G>A (p.Glu746Lys)
c.1168G>A (p.Glu390Lys)
c.910G>A (p.Glu304Lys)
c.2113G>A (p.Glu705Lys)
c.1777G>A (p.Glu593Lys)
n.2358G>A
 gnomAD v4
5g.156098G>CCA359002115PLEKHG4Bc.2236G>C (p.Glu746Gln)
c.1168G>C (p.Glu390Gln)
c.910G>C (p.Glu304Gln)
c.2113G>C (p.Glu705Gln)
c.1777G>C (p.Glu593Gln)
n.2358G>C
5g.156098G>TCA359002116PLEKHG4Bc.2236G>T (p.Glu746Ter)
c.1168G>T (p.Glu390Ter)
c.910G>T (p.Glu304Ter)
c.2113G>T (p.Glu705Ter)
c.1777G>T (p.Glu593Ter)
n.2358G>T
5g.156099A>CCA359002118PLEKHG4Bc.2237A>C (p.Glu746Ala)
c.1169A>C (p.Glu390Ala)
c.911A>C (p.Glu304Ala)
c.2114A>C (p.Glu705Ala)
c.1778A>C (p.Glu593Ala)
n.2359A>C
5g.156099A>GCA359002120PLEKHG4Bc.2237A>G (p.Glu746Gly)
c.1169A>G (p.Glu390Gly)
c.911A>G (p.Glu304Gly)
c.2114A>G (p.Glu705Gly)
c.1778A>G (p.Glu593Gly)
n.2359A>G
 gnomAD v4
5g.156099A>TCA359002122PLEKHG4Bc.2237A>T (p.Glu746Val)
c.1169A>T (p.Glu390Val)
c.911A>T (p.Glu304Val)
c.2114A>T (p.Glu705Val)
c.1778A>T (p.Glu593Val)
n.2359A>T
 COSMIC
5g.156100G>ACA442676621PLEKHG4Bc.2238G>A (p.Glu746=)
c.1170G>A (p.Glu390=)
c.912G>A (p.Glu304=)
c.2115G>A (p.Glu705=)
c.1779G>A (p.Glu593=)
n.2360G>A
5g.156100G>CCA359002125PLEKHG4Bc.2238G>C (p.Glu746Asp)
c.1170G>C (p.Glu390Asp)
c.912G>C (p.Glu304Asp)
c.2115G>C (p.Glu705Asp)
c.1779G>C (p.Glu593Asp)
n.2360G>C
5g.156100G>TCA359002124PLEKHG4Bc.2238G>T (p.Glu746Asp)
c.1170G>T (p.Glu390Asp)
c.912G>T (p.Glu304Asp)
c.2115G>T (p.Glu705Asp)
c.1779G>T (p.Glu593Asp)
n.2360G>T
 COSMIC
5g.156101A=CA1521945818PLEKHG4Bc.2239A= (p.Thr747=)
c.1171A= (p.Thr391=)
c.913A= (p.Thr305=)
c.2116A= (p.Thr706=)
c.1780A= (p.Thr594=)
n.2361A=
5g.156101A>CCA359002127PLEKHG4Bc.2239A>C (p.Thr747Pro)
c.1171A>C (p.Thr391Pro)
c.913A>C (p.Thr305Pro)
c.2116A>C (p.Thr706Pro)
c.1780A>C (p.Thr594Pro)
n.2361A>C
5g.156101A>GCA359002129PLEKHG4Bc.2239A>G (p.Thr747Ala)
c.1171A>G (p.Thr391Ala)
c.913A>G (p.Thr305Ala)
c.2116A>G (p.Thr706Ala)
c.1780A>G (p.Thr594Ala)
n.2361A>G
 gnomAD v4
5g.156101A>TCA359002130PLEKHG4Bc.2239A>T (p.Thr747Ser)
c.1171A>T (p.Thr391Ser)
c.913A>T (p.Thr305Ser)
c.2116A>T (p.Thr706Ser)
c.1780A>T (p.Thr594Ser)
n.2361A>T
 dbSNP
5g.156102C>ACA359002131PLEKHG4Bc.2240C>A (p.Thr747Lys)
c.1172C>A (p.Thr391Lys)
c.914C>A (p.Thr305Lys)
c.2117C>A (p.Thr706Lys)
c.1781C>A (p.Thr594Lys)
n.2362C>A
 gnomAD v4
5g.156102C=CA1521945822PLEKHG4Bc.2240C= (p.Thr747=)
c.1172C= (p.Thr391=)
c.914C= (p.Thr305=)
c.2117C= (p.Thr706=)
c.1781C= (p.Thr594=)
n.2362C=
5g.156102C>GCA359002132PLEKHG4Bc.2240C>G (p.Thr747Arg)
c.1172C>G (p.Thr391Arg)
c.914C>G (p.Thr305Arg)
c.2117C>G (p.Thr706Arg)
c.1781C>G (p.Thr594Arg)
n.2362C>G
5g.156102C>TCA3171083PLEKHG4Bc.2240C>T (p.Thr747Met)
c.1172C>T (p.Thr391Met)
c.914C>T (p.Thr305Met)
c.2117C>T (p.Thr706Met)
c.1781C>T (p.Thr594Met)
n.2362C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.156103G>ACA3171084PLEKHG4Bc.2241G>A (p.Thr747=)
c.1173G>A (p.Thr391=)
c.915G>A (p.Thr305=)
c.2118G>A (p.Thr706=)
c.1782G>A (p.Thr594=)
n.2363G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.156103G>CCA442676622PLEKHG4Bc.2241G>C (p.Thr747=)
c.1173G>C (p.Thr391=)
c.915G>C (p.Thr305=)
c.2118G>C (p.Thr706=)
c.1782G>C (p.Thr594=)
n.2363G>C
5g.156103G=CA1521945824PLEKHG4Bc.2241G= (p.Thr747=)
c.1173G= (p.Thr391=)
c.915G= (p.Thr305=)
c.2118G= (p.Thr706=)
c.1782G= (p.Thr594=)
n.2363G=
5g.156103G>TCA442676623PLEKHG4Bc.2241G>T (p.Thr747=)
c.1173G>T (p.Thr391=)
c.915G>T (p.Thr305=)
c.2118G>T (p.Thr706=)
c.1782G>T (p.Thr594=)
n.2363G>T
 gnomAD v4
5g.156108_156110delCA2672950820PLEKHG4Bc.2246_2248del (p.Met749del)
c.1178_1180del (p.Met393del)
c.920_922del (p.Met307del)
c.2123_2125del (p.Met708del)
c.1787_1789del (p.Met596del)
n.2368_2370del
 gnomAD v4
5g.156104A>CCA359002134PLEKHG4Bc.2242A>C (p.Met748Leu)
c.1174A>C (p.Met392Leu)
c.916A>C (p.Met306Leu)
c.2119A>C (p.Met707Leu)
c.1783A>C (p.Met595Leu)
n.2364A>C
5g.156104A>GCA359002138PLEKHG4Bc.2242A>G (p.Met748Val)
c.1174A>G (p.Met392Val)
c.916A>G (p.Met306Val)
c.2119A>G (p.Met707Val)
c.1783A>G (p.Met595Val)
n.2364A>G
 gnomAD v4
5g.156104A>TCA359002136PLEKHG4Bc.2242A>T (p.Met748Leu)
c.1174A>T (p.Met392Leu)
c.916A>T (p.Met306Leu)
c.2119A>T (p.Met707Leu)
c.1783A>T (p.Met595Leu)
n.2364A>T
5g.156105T>ACA359002139PLEKHG4Bc.2243T>A (p.Met748Lys)
c.1175T>A (p.Met392Lys)
c.917T>A (p.Met306Lys)
c.2120T>A (p.Met707Lys)
c.1784T>A (p.Met595Lys)
n.2365T>A
5g.156105T>CCA359002141PLEKHG4Bc.2243T>C (p.Met748Thr)
c.1175T>C (p.Met392Thr)
c.917T>C (p.Met306Thr)
c.2120T>C (p.Met707Thr)
c.1784T>C (p.Met595Thr)
n.2365T>C
 dbSNP gnomAD v2 gnomAD v4
5g.156105T>GCA359002143PLEKHG4Bc.2243T>G (p.Met748Arg)
c.1175T>G (p.Met392Arg)
c.917T>G (p.Met306Arg)
c.2120T>G (p.Met707Arg)
c.1784T>G (p.Met595Arg)
n.2365T>G
5g.156105T=CA1521945827PLEKHG4Bc.2243T= (p.Met748=)
c.1175T= (p.Met392=)
c.917T= (p.Met306=)
c.2120T= (p.Met707=)
c.1784T= (p.Met595=)
n.2365T=
5g.156106G>ACA359002144PLEKHG4Bc.2244G>A (p.Met748Ile)
c.1176G>A (p.Met392Ile)
c.918G>A (p.Met306Ile)
c.2121G>A (p.Met707Ile)
c.1785G>A (p.Met595Ile)
n.2366G>A
5g.156106G>CCA359002146PLEKHG4Bc.2244G>C (p.Met748Ile)
c.1176G>C (p.Met392Ile)
c.918G>C (p.Met306Ile)
c.2121G>C (p.Met707Ile)
c.1785G>C (p.Met595Ile)
n.2366G>C
 dbSNP gnomAD v4
5g.156106G=CA1521945829PLEKHG4Bc.2244G= (p.Met748=)
c.1176G= (p.Met392=)
c.918G= (p.Met306=)
c.2121G= (p.Met707=)
c.1785G= (p.Met595=)
n.2366G=
5g.156106G>TCA359002147PLEKHG4Bc.2244G>T (p.Met748Ile)
c.1176G>T (p.Met392Ile)
c.918G>T (p.Met306Ile)
c.2121G>T (p.Met707Ile)
c.1785G>T (p.Met595Ile)
n.2366G>T
5g.156107A>CCA359002148PLEKHG4Bc.2245A>C (p.Met749Leu)
c.1177A>C (p.Met393Leu)
c.919A>C (p.Met307Leu)
c.2122A>C (p.Met708Leu)
c.1786A>C (p.Met596Leu)
n.2367A>C
5g.156107A>GCA359002149PLEKHG4Bc.2245A>G (p.Met749Val)
c.1177A>G (p.Met393Val)
c.919A>G (p.Met307Val)
c.2122A>G (p.Met708Val)
c.1786A>G (p.Met596Val)
n.2367A>G
 gnomAD v4
5g.156107A>TCA359002151PLEKHG4Bc.2245A>T (p.Met749Leu)
c.1177A>T (p.Met393Leu)
c.919A>T (p.Met307Leu)
c.2122A>T (p.Met708Leu)
c.1786A>T (p.Met596Leu)
n.2367A>T
5g.156108T>ACA359002152PLEKHG4Bc.2246T>A (p.Met749Lys)
c.1178T>A (p.Met393Lys)
c.920T>A (p.Met307Lys)
c.2123T>A (p.Met708Lys)
c.1787T>A (p.Met596Lys)
n.2368T>A
5g.156108T>CCA359002154PLEKHG4Bc.2246T>C (p.Met749Thr)
c.1178T>C (p.Met393Thr)
c.920T>C (p.Met307Thr)
c.2123T>C (p.Met708Thr)
c.1787T>C (p.Met596Thr)
n.2368T>C
5g.156108T>GCA3171085PLEKHG4Bc.2246T>G (p.Met749Arg)
c.1178T>G (p.Met393Arg)
c.920T>G (p.Met307Arg)
c.2123T>G (p.Met708Arg)
c.1787T>G (p.Met596Arg)
n.2368T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.156108T=CA1521945833PLEKHG4Bc.2246T= (p.Met749=)
c.1178T= (p.Met393=)
c.920T= (p.Met307=)
c.2123T= (p.Met708=)
c.1787T= (p.Met596=)
n.2368T=
5g.156109G>ACA359002155PLEKHG4Bc.2247G>A (p.Met749Ile)
c.1179G>A (p.Met393Ile)
c.921G>A (p.Met307Ile)
c.2124G>A (p.Met708Ile)
c.1788G>A (p.Met596Ile)
n.2369G>A
5g.156109G>CCA3171086PLEKHG4Bc.2247G>C (p.Met749Ile)
c.1179G>C (p.Met393Ile)
c.921G>C (p.Met307Ile)
c.2124G>C (p.Met708Ile)
c.1788G>C (p.Met596Ile)
n.2369G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.156109G=CA1521945835PLEKHG4Bc.2247G= (p.Met749=)
c.1179G= (p.Met393=)
c.921G= (p.Met307=)
c.2124G= (p.Met708=)
c.1788G= (p.Met596=)
n.2369G=
5g.156109G>TCA359002157PLEKHG4Bc.2247G>T (p.Met749Ile)
c.1179G>T (p.Met393Ile)
c.921G>T (p.Met307Ile)
c.2124G>T (p.Met708Ile)
c.1788G>T (p.Met596Ile)
n.2369G>T
5g.156110A>CCA359002159PLEKHG4Bc.2248A>C (p.Lys750Gln)
c.1180A>C (p.Lys394Gln)
c.922A>C (p.Lys308Gln)
c.2125A>C (p.Lys709Gln)
c.1789A>C (p.Lys597Gln)
n.2370A>C
5g.156110A>GCA359002160PLEKHG4Bc.2248A>G (p.Lys750Glu)
c.1180A>G (p.Lys394Glu)
c.922A>G (p.Lys308Glu)
c.2125A>G (p.Lys709Glu)
c.1789A>G (p.Lys597Glu)
n.2370A>G
5g.156110A>TCA359002161PLEKHG4Bc.2248A>T (p.Lys750Ter)
c.1180A>T (p.Lys394Ter)
c.922A>T (p.Lys308Ter)
c.2125A>T (p.Lys709Ter)
c.1789A>T (p.Lys597Ter)
n.2370A>T
5g.156111A=CA1521945837PLEKHG4Bc.2249A= (p.Lys750=)
c.1181A= (p.Lys394=)
c.923A= (p.Lys308=)
c.2126A= (p.Lys709=)
c.1790A= (p.Lys597=)
n.2371A=
5g.156111A>CCA359002162PLEKHG4Bc.2249A>C (p.Lys750Thr)
c.1181A>C (p.Lys394Thr)
c.923A>C (p.Lys308Thr)
c.2126A>C (p.Lys709Thr)
c.1790A>C (p.Lys597Thr)
n.2371A>C
 gnomAD v4
5g.156111A>GCA359002163PLEKHG4Bc.2249A>G (p.Lys750Arg)
c.1181A>G (p.Lys394Arg)
c.923A>G (p.Lys308Arg)
c.2126A>G (p.Lys709Arg)
c.1790A>G (p.Lys597Arg)
n.2371A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.156111A>TCA359002164PLEKHG4Bc.2249A>T (p.Lys750Met)
c.1181A>T (p.Lys394Met)
c.923A>T (p.Lys308Met)
c.2126A>T (p.Lys709Met)
c.1790A>T (p.Lys597Met)
n.2371A>T
5g.156112G>ACA442676653PLEKHG4Bc.2250G>A (p.Lys750=)
c.1182G>A (p.Lys394=)
c.924G>A (p.Lys308=)
c.2127G>A (p.Lys709=)
c.1791G>A (p.Lys597=)
n.2372G>A
 dbSNP gnomAD v3 gnomAD v4
5g.156112G>CCA359002166PLEKHG4Bc.2250G>C (p.Lys750Asn)
c.1182G>C (p.Lys394Asn)
c.924G>C (p.Lys308Asn)
c.2127G>C (p.Lys709Asn)
c.1791G>C (p.Lys597Asn)
n.2372G>C
5g.156112G=CA1521945839PLEKHG4Bc.2250G= (p.Lys750=)
c.1182G= (p.Lys394=)
c.924G= (p.Lys308=)
c.2127G= (p.Lys709=)
c.1791G= (p.Lys597=)
n.2372G=
5g.156112G>TCA359002167PLEKHG4Bc.2250G>T (p.Lys750Asn)
c.1182G>T (p.Lys394Asn)
c.924G>T (p.Lys308Asn)
c.2127G>T (p.Lys709Asn)
c.1791G>T (p.Lys597Asn)
n.2372G>T
5g.156113C>ACA359002170PLEKHG4Bc.2251C>A (p.Leu751Ile)
c.1183C>A (p.Leu395Ile)
c.925C>A (p.Leu309Ile)
c.2128C>A (p.Leu710Ile)
c.1792C>A (p.Leu598Ile)
n.2373C>A
5g.156113C>GCA359002171PLEKHG4Bc.2251C>G (p.Leu751Val)
c.1183C>G (p.Leu395Val)
c.925C>G (p.Leu309Val)
c.2128C>G (p.Leu710Val)
c.1792C>G (p.Leu598Val)
n.2373C>G
5g.156113C>TCA359002172PLEKHG4Bc.2251C>T (p.Leu751Phe)
c.1183C>T (p.Leu395Phe)
c.925C>T (p.Leu309Phe)
c.2128C>T (p.Leu710Phe)
c.1792C>T (p.Leu598Phe)
n.2373C>T
5g.156114T>ACA359002174PLEKHG4Bc.2252T>A (p.Leu751His)
c.1184T>A (p.Leu395His)
c.926T>A (p.Leu309His)
c.2129T>A (p.Leu710His)
c.1793T>A (p.Leu598His)
n.2374T>A
5g.156114T>CCA359002176PLEKHG4Bc.2252T>C (p.Leu751Pro)
c.1184T>C (p.Leu395Pro)
c.926T>C (p.Leu309Pro)
c.2129T>C (p.Leu710Pro)
c.1793T>C (p.Leu598Pro)
n.2374T>C
5g.156114T>GCA359002177PLEKHG4Bc.2252T>G (p.Leu751Arg)
c.1184T>G (p.Leu395Arg)
c.926T>G (p.Leu309Arg)
c.2129T>G (p.Leu710Arg)
c.1793T>G (p.Leu598Arg)
n.2374T>G
5g.156115T>ACA442676672PLEKHG4Bc.2253T>A (p.Leu751=)
c.1185T>A (p.Leu395=)
c.927T>A (p.Leu309=)
c.2130T>A (p.Leu710=)
c.1794T>A (p.Leu598=)
n.2375T>A
5g.156115T>CCA3171087PLEKHG4Bc.2253T>C (p.Leu751=)
c.1185T>C (p.Leu395=)
c.927T>C (p.Leu309=)
c.2130T>C (p.Leu710=)
c.1794T>C (p.Leu598=)
n.2375T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.156115T>GCA442676676PLEKHG4Bc.2253T>G (p.Leu751=)
c.1185T>G (p.Leu395=)
c.927T>G (p.Leu309=)
c.2130T>G (p.Leu710=)
c.1794T>G (p.Leu598=)
n.2375T>G
5g.156115T=CA1521945841PLEKHG4Bc.2253T= (p.Leu751=)
c.1185T= (p.Leu395=)
c.927T= (p.Leu309=)
c.2130T= (p.Leu710=)
c.1794T= (p.Leu598=)
n.2375T=
5g.156116G>ACA359002179PLEKHG4Bc.2254G>A (p.Val752Ile)
c.1186G>A (p.Val396Ile)
c.928G>A (p.Val310Ile)
c.2131G>A (p.Val711Ile)
c.1795G>A (p.Val599Ile)
n.2376G>A
5g.156116G>CCA359002181PLEKHG4Bc.2254G>C (p.Val752Leu)
c.1186G>C (p.Val396Leu)
c.928G>C (p.Val310Leu)
c.2131G>C (p.Val711Leu)
c.1795G>C (p.Val599Leu)
n.2376G>C
5g.156116G>TCA359002182PLEKHG4Bc.2254G>T (p.Val752Phe)
c.1186G>T (p.Val396Phe)
c.928G>T (p.Val310Phe)
c.2131G>T (p.Val711Phe)
c.1795G>T (p.Val599Phe)
n.2376G>T
5g.156117T>ACA359002184PLEKHG4Bc.2255T>A (p.Val752Asp)
c.1187T>A (p.Val396Asp)
c.929T>A (p.Val310Asp)
c.2132T>A (p.Val711Asp)
c.1796T>A (p.Val599Asp)
n.2377T>A
5g.156117T>CCA359002186PLEKHG4Bc.2255T>C (p.Val752Ala)
c.1187T>C (p.Val396Ala)
c.929T>C (p.Val310Ala)
c.2132T>C (p.Val711Ala)
c.1796T>C (p.Val599Ala)
n.2377T>C
5g.156117T>GCA359002187PLEKHG4Bc.2255T>G (p.Val752Gly)
c.1187T>G (p.Val396Gly)
c.929T>G (p.Val310Gly)
c.2132T>G (p.Val711Gly)
c.1796T>G (p.Val599Gly)
n.2377T>G
5g.156118C>ACA442676692PLEKHG4Bc.2256C>A (p.Val752=)
c.1188C>A (p.Val396=)
c.930C>A (p.Val310=)
c.2133C>A (p.Val711=)
c.1797C>A (p.Val599=)
n.2378C>A
5g.156118C=CA1521945843PLEKHG4Bc.2256C= (p.Val752=)
c.1188C= (p.Val396=)
c.930C= (p.Val310=)
c.2133C= (p.Val711=)
c.1797C= (p.Val599=)
n.2378C=
5g.156118C>GCA442676696PLEKHG4Bc.2256C>G (p.Val752=)
c.1188C>G (p.Val396=)
c.930C>G (p.Val310=)
c.2133C>G (p.Val711=)
c.1797C>G (p.Val599=)
n.2378C>G
5g.156118C>TCA112735187PLEKHG4Bc.2256C>T (p.Val752=)
c.1188C>T (p.Val396=)
c.930C>T (p.Val310=)
c.2133C>T (p.Val711=)
c.1797C>T (p.Val599=)
n.2378C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.156119C>ACA359002189PLEKHG4Bc.2257C>A (p.Leu753Met)
c.1189C>A (p.Leu397Met)
c.931C>A (p.Leu311Met)
c.2134C>A (p.Leu712Met)
c.1798C>A (p.Leu600Met)
n.2379C>A
 gnomAD v4
5g.156119C>GCA359002191PLEKHG4Bc.2257C>G (p.Leu753Val)
c.1189C>G (p.Leu397Val)
c.931C>G (p.Leu311Val)
c.2134C>G (p.Leu712Val)
c.1798C>G (p.Leu600Val)
n.2379C>G
5g.156119C>TCA442676702PLEKHG4Bc.2257C>T (p.Leu753=)
c.1189C>T (p.Leu397=)
c.931C>T (p.Leu311=)
c.2134C>T (p.Leu712=)
c.1798C>T (p.Leu600=)
n.2379C>T
 gnomAD v4
5g.156120T>ACA359002192PLEKHG4Bc.2258T>A (p.Leu753Gln)
c.1190T>A (p.Leu397Gln)
c.932T>A (p.Leu311Gln)
c.2135T>A (p.Leu712Gln)
c.1799T>A (p.Leu600Gln)
n.2380T>A
5g.156120T>CCA359002194PLEKHG4Bc.2258T>C (p.Leu753Pro)
c.1190T>C (p.Leu397Pro)
c.932T>C (p.Leu311Pro)
c.2135T>C (p.Leu712Pro)
c.1799T>C (p.Leu600Pro)
n.2380T>C
 gnomAD v4
5g.156120T>GCA359002195PLEKHG4Bc.2258T>G (p.Leu753Arg)
c.1190T>G (p.Leu397Arg)
c.932T>G (p.Leu311Arg)
c.2135T>G (p.Leu712Arg)
c.1799T>G (p.Leu600Arg)
n.2380T>G
5g.156120_156121delinsTGCA1521945846PLEKHG4Bc.2258_2259delinsTG (p.Leu753=)
c.1190_1191delinsTG (p.Leu397=)
c.932_933delinsTG (p.Leu311=)
c.2135_2136delinsTG (p.Leu712=)
c.1799_1800delinsTG (p.Leu600=)
n.2380_2381delinsTG
5g.156121G>ACA442676715PLEKHG4Bc.2259G>A (p.Leu753=)
c.1191G>A (p.Leu397=)
c.933G>A (p.Leu311=)
c.2136G>A (p.Leu712=)
c.1800G>A (p.Leu600=)
n.2381G>A
 gnomAD v4
5g.156121G>CCA442676717PLEKHG4Bc.2259G>C (p.Leu753=)
c.1191G>C (p.Leu397=)
c.933G>C (p.Leu311=)
c.2136G>C (p.Leu712=)
c.1800G>C (p.Leu600=)
n.2381G>C
5g.156121G>TCA442676712PLEKHG4Bc.2259G>T (p.Leu753=)
c.1191G>T (p.Leu397=)
c.933G>T (p.Leu311=)
c.2136G>T (p.Leu712=)
c.1800G>T (p.Leu600=)
n.2381G>T
5g.156122delCA1521945847PLEKHG4Bc.2260del (p.Glu754LysfsTer19)
c.1192del (p.Glu398LysfsTer19)
c.934del (p.Glu312LysfsTer19)
c.2137del (p.Glu713LysfsTer19)
c.1801del (p.Glu601LysfsTer19)
n.2382del
 dbSNP gnomAD v4
5g.156122G>ACA3171088PLEKHG4Bc.2260G>A (p.Glu754Lys)
c.1192G>A (p.Glu398Lys)
c.934G>A (p.Glu312Lys)
c.2137G>A (p.Glu713Lys)
c.1801G>A (p.Glu601Lys)
n.2382G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.156122G>CCA359002199PLEKHG4Bc.2260G>C (p.Glu754Gln)
c.1192G>C (p.Glu398Gln)
c.934G>C (p.Glu312Gln)
c.2137G>C (p.Glu713Gln)
c.1801G>C (p.Glu601Gln)
n.2382G>C
5g.156122G=CA1521945850PLEKHG4Bc.2260G= (p.Glu754=)
c.1192G= (p.Glu398=)
c.934G= (p.Glu312=)
c.2137G= (p.Glu713=)
c.1801G= (p.Glu601=)
n.2382G=
5g.156122G>TCA359002198PLEKHG4Bc.2260G>T (p.Glu754Ter)
c.1192G>T (p.Glu398Ter)
c.934G>T (p.Glu312Ter)
c.2137G>T (p.Glu713Ter)
c.1801G>T (p.Glu601Ter)
n.2382G>T
5g.156123A>CCA359002200PLEKHG4Bc.2261A>C (p.Glu754Ala)
c.1193A>C (p.Glu398Ala)
c.935A>C (p.Glu312Ala)
c.2138A>C (p.Glu713Ala)
c.1802A>C (p.Glu601Ala)
n.2383A>C
5g.156123A>GCA359002202PLEKHG4Bc.2261A>G (p.Glu754Gly)
c.1193A>G (p.Glu398Gly)
c.935A>G (p.Glu312Gly)
c.2138A>G (p.Glu713Gly)
c.1802A>G (p.Glu601Gly)
n.2383A>G
 gnomAD v4
5g.156123A>TCA359002201PLEKHG4Bc.2261A>T (p.Glu754Val)
c.1193A>T (p.Glu398Val)
c.935A>T (p.Glu312Val)
c.2138A>T (p.Glu713Val)
c.1802A>T (p.Glu601Val)
n.2383A>T
5g.156123_156128delinsAAGACCCA1521945852PLEKHG4Bc.2261_2266delinsAAGACC (p.Glu754=)
c.1193_1198delinsAAGACC (p.Glu398=)
c.935_940delinsAAGACC (p.Glu312=)
c.2138_2143delinsAAGACC (p.Glu713=)
c.1802_1807delinsAAGACC (p.Glu601=)
n.2383_2388delinsAAGACC
5g.156124A>CCA359002204PLEKHG4Bc.2262A>C (p.Glu754Asp)
c.1194A>C (p.Glu398Asp)
c.936A>C (p.Glu312Asp)
c.2139A>C (p.Glu713Asp)
c.1803A>C (p.Glu601Asp)
n.2384A>C
 gnomAD v4
5g.156124A>GCA442676734PLEKHG4Bc.2262A>G (p.Glu754=)
c.1194A>G (p.Glu398=)
c.936A>G (p.Glu312=)
c.2139A>G (p.Glu713=)
c.1803A>G (p.Glu601=)
n.2384A>G
5g.156124A>TCA359002206PLEKHG4Bc.2262A>T (p.Glu754Asp)
c.1194A>T (p.Glu398Asp)
c.936A>T (p.Glu312Asp)
c.2139A>T (p.Glu713Asp)
c.1803A>T (p.Glu601Asp)
n.2384A>T
5g.156124_156128delCA557111644PLEKHG4Bc.2262_2266del (p.Glu754AspfsTer?)
c.1194_1198del (p.Glu398AspfsTer?)
c.936_940del (p.Glu312AspfsTer?)
c.2139_2143del (p.Glu713AspfsTer?)
c.1803_1807del (p.Glu601AspfsTer?)
n.2384_2388del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.156125G>ACA359002207PLEKHG4Bc.2263G>A (p.Asp755Asn)
c.1195G>A (p.Asp399Asn)
c.937G>A (p.Asp313Asn)
c.2140G>A (p.Asp714Asn)
c.1804G>A (p.Asp602Asn)
n.2385G>A
5g.156125G>CCA359002209PLEKHG4Bc.2263G>C (p.Asp755His)
c.1195G>C (p.Asp399His)
c.937G>C (p.Asp313His)
c.2140G>C (p.Asp714His)
c.1804G>C (p.Asp602His)
n.2385G>C
5g.156125G>TCA359002210PLEKHG4Bc.2263G>T (p.Asp755Tyr)
c.1195G>T (p.Asp399Tyr)
c.937G>T (p.Asp313Tyr)
c.2140G>T (p.Asp714Tyr)
c.1804G>T (p.Asp602Tyr)
n.2385G>T
5g.156126A>CCA359002212PLEKHG4Bc.2264A>C (p.Asp755Ala)
c.1196A>C (p.Asp399Ala)
c.938A>C (p.Asp313Ala)
c.2141A>C (p.Asp714Ala)
c.1805A>C (p.Asp602Ala)
n.2386A>C
5g.156126A>GCA359002214PLEKHG4Bc.2264A>G (p.Asp755Gly)
c.1196A>G (p.Asp399Gly)
c.938A>G (p.Asp313Gly)
c.2141A>G (p.Asp714Gly)
c.1805A>G (p.Asp602Gly)
n.2386A>G
5g.156126A>TCA359002215PLEKHG4Bc.2264A>T (p.Asp755Val)
c.1196A>T (p.Asp399Val)
c.938A>T (p.Asp313Val)
c.2141A>T (p.Asp714Val)
c.1805A>T (p.Asp602Val)
n.2386A>T
5g.156127C>ACA359002217PLEKHG4Bc.2265C>A (p.Asp755Glu)
c.1197C>A (p.Asp399Glu)
c.939C>A (p.Asp313Glu)
c.2142C>A (p.Asp714Glu)
c.1806C>A (p.Asp602Glu)
n.2387C>A
 gnomAD v4
5g.156127C=CA1521945855PLEKHG4Bc.2265C= (p.Asp755=)
c.1197C= (p.Asp399=)
c.939C= (p.Asp313=)
c.2142C= (p.Asp714=)
c.1806C= (p.Asp602=)
n.2387C=
5g.156127C>GCA359002218PLEKHG4Bc.2265C>G (p.Asp755Glu)
c.1197C>G (p.Asp399Glu)
c.939C>G (p.Asp313Glu)
c.2142C>G (p.Asp714Glu)
c.1806C>G (p.Asp602Glu)
n.2387C>G
5g.156127C>TCA3171089PLEKHG4Bc.2265C>T (p.Asp755=)
c.1197C>T (p.Asp399=)
c.939C>T (p.Asp313=)
c.2142C>T (p.Asp714=)
c.1806C>T (p.Asp602=)
n.2387C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.156129delCA2672950822PLEKHG4Bc.2267del (p.Pro756HisfsTer17)
c.1199del (p.Pro400HisfsTer17)
c.941del (p.Pro314HisfsTer17)
c.2144del (p.Pro715HisfsTer17)
c.1808del (p.Pro603HisfsTer17)
n.2389del
 gnomAD v4
5g.156128C>ACA359002222PLEKHG4Bc.2266C>A (p.Pro756Thr)
c.1198C>A (p.Pro400Thr)
c.940C>A (p.Pro314Thr)
c.2143C>A (p.Pro715Thr)
c.1807C>A (p.Pro603Thr)
n.2388C>A
5g.156128C=CA1521945857PLEKHG4Bc.2266C= (p.Pro756=)
c.1198C= (p.Pro400=)
c.940C= (p.Pro314=)
c.2143C= (p.Pro715=)
c.1807C= (p.Pro603=)
n.2388C=
5g.156128C>GCA359002221PLEKHG4Bc.2266C>G (p.Pro756Ala)
c.1198C>G (p.Pro400Ala)
c.940C>G (p.Pro314Ala)
c.2143C>G (p.Pro715Ala)
c.1807C>G (p.Pro603Ala)
n.2388C>G
 dbSNP gnomAD v4
5g.156128C>TCA359002219PLEKHG4Bc.2266C>T (p.Pro756Ser)
c.1198C>T (p.Pro400Ser)
c.940C>T (p.Pro314Ser)
c.2143C>T (p.Pro715Ser)
c.1807C>T (p.Pro603Ser)
n.2388C>T
5g.156129C>ACA359002223PLEKHG4Bc.2267C>A (p.Pro756Gln)
c.1199C>A (p.Pro400Gln)
c.941C>A (p.Pro314Gln)
c.2144C>A (p.Pro715Gln)
c.1808C>A (p.Pro603Gln)
n.2389C>A
5g.156129C>GCA359002224PLEKHG4Bc.2267C>G (p.Pro756Arg)
c.1199C>G (p.Pro400Arg)
c.941C>G (p.Pro314Arg)
c.2144C>G (p.Pro715Arg)
c.1808C>G (p.Pro603Arg)
n.2389C>G
5g.156129C>TCA359002226PLEKHG4Bc.2267C>T (p.Pro756Leu)
c.1199C>T (p.Pro400Leu)
c.941C>T (p.Pro314Leu)
c.2144C>T (p.Pro715Leu)
c.1808C>T (p.Pro603Leu)
n.2389C>T
5g.156130A>CCA442676768PLEKHG4Bc.2268A>C (p.Pro756=)
c.1200A>C (p.Pro400=)
c.942A>C (p.Pro314=)
c.2145A>C (p.Pro715=)
c.1809A>C (p.Pro603=)
n.2390A>C
5g.156130A>GCA442676773PLEKHG4Bc.2268A>G (p.Pro756=)
c.1200A>G (p.Pro400=)
c.942A>G (p.Pro314=)
c.2145A>G (p.Pro715=)
c.1809A>G (p.Pro603=)
n.2390A>G
 gnomAD v4
5g.156130A>TCA442676770PLEKHG4Bc.2268A>T (p.Pro756=)
c.1200A>T (p.Pro400=)
c.942A>T (p.Pro314=)
c.2145A>T (p.Pro715=)
c.1809A>T (p.Pro603=)
n.2390A>T
5g.156131C>ACA359002227PLEKHG4Bc.2269C>A (p.Leu757Met)
c.1201C>A (p.Leu401Met)
c.943C>A (p.Leu315Met)
c.2146C>A (p.Leu716Met)
c.1810C>A (p.Leu604Met)
n.2391C>A
5g.156131C>GCA359002228PLEKHG4Bc.2269C>G (p.Leu757Val)
c.1201C>G (p.Leu401Val)
c.943C>G (p.Leu315Val)
c.2146C>G (p.Leu716Val)
c.1810C>G (p.Leu604Val)
n.2391C>G
5g.156131C>TCA442676779PLEKHG4Bc.2269C>T (p.Leu757=)
c.1201C>T (p.Leu401=)
c.943C>T (p.Leu315=)
c.2146C>T (p.Leu716=)
c.1810C>T (p.Leu604=)
n.2391C>T
5g.156132T>ACA359002230PLEKHG4Bc.2270T>A (p.Leu757Gln)
c.1202T>A (p.Leu401Gln)
c.944T>A (p.Leu315Gln)
c.2147T>A (p.Leu716Gln)
c.1811T>A (p.Leu604Gln)
n.2392T>A
 dbSNP
5g.156132T>CCA359002231PLEKHG4Bc.2270T>C (p.Leu757Pro)
c.1202T>C (p.Leu401Pro)
c.944T>C (p.Leu315Pro)
c.2147T>C (p.Leu716Pro)
c.1811T>C (p.Leu604Pro)
n.2392T>C
5g.156132T>GCA359002232PLEKHG4Bc.2270T>G (p.Leu757Arg)
c.1202T>G (p.Leu401Arg)
c.944T>G (p.Leu315Arg)
c.2147T>G (p.Leu716Arg)
c.1811T>G (p.Leu604Arg)
n.2392T>G
5g.156132T=CA1521945859PLEKHG4Bc.2270T= (p.Leu757=)
c.1202T= (p.Leu401=)
c.944T= (p.Leu315=)
c.2147T= (p.Leu716=)
c.1811T= (p.Leu604=)
n.2392T=
5g.156133G>ACA442676787PLEKHG4Bc.2271G>A (p.Leu757=)
c.1203G>A (p.Leu401=)
c.945G>A (p.Leu315=)
c.2148G>A (p.Leu716=)
c.1812G>A (p.Leu604=)
n.2393G>A
 gnomAD v4
5g.156133G>CCA442676790PLEKHG4Bc.2271G>C (p.Leu757=)
c.1203G>C (p.Leu401=)
c.945G>C (p.Leu315=)
c.2148G>C (p.Leu716=)
c.1812G>C (p.Leu604=)
n.2393G>C
5g.156133G>TCA442676793PLEKHG4Bc.2271G>T (p.Leu757=)
c.1203G>T (p.Leu401=)
c.945G>T (p.Leu315=)
c.2148G>T (p.Leu716=)
c.1812G>T (p.Leu604=)
n.2393G>T
 gnomAD v4
5g.156134C>ACA359002234PLEKHG4Bc.2272C>A (p.Leu758Ile)
c.1204C>A (p.Leu402Ile)
c.946C>A (p.Leu316Ile)
c.2149C>A (p.Leu717Ile)
c.1813C>A (p.Leu605Ile)
n.2394C>A
5g.156134C>GCA359002236PLEKHG4Bc.2272C>G (p.Leu758Val)
c.1204C>G (p.Leu402Val)
c.946C>G (p.Leu316Val)
c.2149C>G (p.Leu717Val)
c.1813C>G (p.Leu605Val)
n.2394C>G
5g.156134C>TCA359002237PLEKHG4Bc.2272C>T (p.Leu758Phe)
c.1204C>T (p.Leu402Phe)
c.946C>T (p.Leu316Phe)
c.2149C>T (p.Leu717Phe)
c.1813C>T (p.Leu605Phe)
n.2394C>T
 gnomAD v4
5g.156135T>ACA359002241PLEKHG4Bc.2273T>A (p.Leu758His)
c.1205T>A (p.Leu402His)
c.947T>A (p.Leu316His)
c.2150T>A (p.Leu717His)
c.1814T>A (p.Leu605His)
n.2395T>A
 gnomAD v4
5g.156135T>CCA359002240PLEKHG4Bc.2273T>C (p.Leu758Pro)
c.1205T>C (p.Leu402Pro)
c.947T>C (p.Leu316Pro)
c.2150T>C (p.Leu717Pro)
c.1814T>C (p.Leu605Pro)
n.2395T>C
5g.156135T>GCA359002239PLEKHG4Bc.2273T>G (p.Leu758Arg)
c.1205T>G (p.Leu402Arg)
c.947T>G (p.Leu316Arg)
c.2150T>G (p.Leu717Arg)
c.1814T>G (p.Leu605Arg)
n.2395T>G
5g.156136T>ACA442676807PLEKHG4Bc.2274T>A (p.Leu758=)
c.1206T>A (p.Leu402=)
c.948T>A (p.Leu316=)
c.2151T>A (p.Leu717=)
c.1815T>A (p.Leu605=)
n.2396T>A
5g.156136T>CCA442676809PLEKHG4Bc.2274T>C (p.Leu758=)
c.1206T>C (p.Leu402=)
c.948T>C (p.Leu316=)
c.2151T>C (p.Leu717=)
c.1815T>C (p.Leu605=)
n.2396T>C
 dbSNP gnomAD v2 gnomAD v4
5g.156136T>GCA442676812PLEKHG4Bc.2274T>G (p.Leu758=)
c.1206T>G (p.Leu402=)
c.948T>G (p.Leu316=)
c.2151T>G (p.Leu717=)
c.1815T>G (p.Leu605=)
n.2396T>G
 dbSNP
5g.156136T=CA1521945861PLEKHG4Bc.2274T= (p.Leu758=)
c.1206T= (p.Leu402=)
c.948T= (p.Leu316=)
c.2151T= (p.Leu717=)
c.1815T= (p.Leu605=)
n.2396T=
5g.156137G>ACA359002244PLEKHG4Bc.2275G>A (p.Val759Met)
c.1207G>A (p.Val403Met)
c.949G>A (p.Val317Met)
c.2152G>A (p.Val718Met)
c.1816G>A (p.Val606Met)
n.2397G>A
5g.156137G>CCA359002245PLEKHG4Bc.2275G>C (p.Val759Leu)
c.1207G>C (p.Val403Leu)
c.949G>C (p.Val317Leu)
c.2152G>C (p.Val718Leu)
c.1816G>C (p.Val606Leu)
n.2397G>C
5g.156137G=CA1521945863PLEKHG4Bc.2275G= (p.Val759=)
c.1207G= (p.Val403=)
c.949G= (p.Val317=)
c.2152G= (p.Val718=)
c.1816G= (p.Val606=)
n.2397G=
5g.156137G>TCA3171090PLEKHG4Bc.2275G>T (p.Val759Leu)
c.1207G>T (p.Val403Leu)
c.949G>T (p.Val317Leu)
c.2152G>T (p.Val718Leu)
c.1816G>T (p.Val606Leu)
n.2397G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.156138T>ACA359002247PLEKHG4Bc.2276T>A (p.Val759Glu)
c.1208T>A (p.Val403Glu)
c.950T>A (p.Val317Glu)
c.2153T>A (p.Val718Glu)
c.1817T>A (p.Val606Glu)
n.2398T>A
5g.156138T>CCA359002249PLEKHG4Bc.2276T>C (p.Val759Ala)
c.1208T>C (p.Val403Ala)
c.950T>C (p.Val317Ala)
c.2153T>C (p.Val718Ala)
c.1817T>C (p.Val606Ala)
n.2398T>C
 gnomAD v4
5g.156138T>GCA359002250PLEKHG4Bc.2276T>G (p.Val759Gly)
c.1208T>G (p.Val403Gly)
c.950T>G (p.Val317Gly)
c.2153T>G (p.Val718Gly)
c.1817T>G (p.Val606Gly)
n.2398T>G
5g.156139G>ACA442676826PLEKHG4Bc.2277G>A (p.Val759=)
c.1209G>A (p.Val403=)
c.951G>A (p.Val317=)
c.2154G>A (p.Val718=)
c.1818G>A (p.Val606=)
n.2399G>A
 gnomAD v4
5g.156139G>CCA442676828PLEKHG4Bc.2277G>C (p.Val759=)
c.1209G>C (p.Val403=)
c.951G>C (p.Val317=)
c.2154G>C (p.Val718=)
c.1818G>C (p.Val606=)
n.2399G>C
 dbSNP gnomAD v2 gnomAD v4
5g.156139G=CA1521945869PLEKHG4Bc.2277G= (p.Val759=)
c.1209G= (p.Val403=)
c.951G= (p.Val317=)
c.2154G= (p.Val718=)
c.1818G= (p.Val606=)
n.2399G=
5g.156139G>TCA442676831PLEKHG4Bc.2277G>T (p.Val759=)
c.1209G>T (p.Val403=)
c.951G>T (p.Val317=)
c.2154G>T (p.Val718=)
c.1818G>T (p.Val606=)
n.2399G>T
5g.156140T>ACA359002252PLEKHG4Bc.2278T>A (p.Ser760Thr)
c.1210T>A (p.Ser404Thr)
c.952T>A (p.Ser318Thr)
c.2155T>A (p.Ser719Thr)
c.1819T>A (p.Ser607Thr)
n.2400T>A
 dbSNP gnomAD v2 gnomAD v4
5g.156140T>CCA359002254PLEKHG4Bc.2278T>C (p.Ser760Pro)
c.1210T>C (p.Ser404Pro)
c.952T>C (p.Ser318Pro)
c.2155T>C (p.Ser719Pro)
c.1819T>C (p.Ser607Pro)
n.2400T>C
5g.156140T>GCA359002255PLEKHG4Bc.2278T>G (p.Ser760Ala)
c.1210T>G (p.Ser404Ala)
c.952T>G (p.Ser318Ala)
c.2155T>G (p.Ser719Ala)
c.1819T>G (p.Ser607Ala)
n.2400T>G
5g.156140T=CA1521945870PLEKHG4Bc.2278T= (p.Ser760=)
c.1210T= (p.Ser404=)
c.952T= (p.Ser318=)
c.2155T= (p.Ser719=)
c.1819T= (p.Ser607=)
n.2400T=
5g.156144_156145delCA2578252391PLEKHG4Bc.2282_2283del (p.Leu761GlnfsTer?)
c.1214_1215del (p.Leu405GlnfsTer?)
c.956_957del (p.Leu319GlnfsTer?)
c.2159_2160del (p.Leu720GlnfsTer?)
c.1823_1824del (p.Leu608GlnfsTer?)
n.2404_2405del
 gnomAD v4
5g.156141C>ACA359002256PLEKHG4Bc.2279C>A (p.Ser760Tyr)
c.1211C>A (p.Ser404Tyr)
c.953C>A (p.Ser318Tyr)
c.2156C>A (p.Ser719Tyr)
c.1820C>A (p.Ser607Tyr)
n.2401C>A
5g.156141C>GCA359002258PLEKHG4Bc.2279C>G (p.Ser760Cys)
c.1211C>G (p.Ser404Cys)
c.953C>G (p.Ser318Cys)
c.2156C>G (p.Ser719Cys)
c.1820C>G (p.Ser607Cys)
n.2401C>G
 gnomAD v4
5g.156141C>TCA359002260PLEKHG4Bc.2279C>T (p.Ser760Phe)
c.1211C>T (p.Ser404Phe)
c.953C>T (p.Ser318Phe)
c.2156C>T (p.Ser719Phe)
c.1820C>T (p.Ser607Phe)
n.2401C>T
 COSMIC
5g.156142T>ACA442676846PLEKHG4Bc.2280T>A (p.Ser760=)
c.1212T>A (p.Ser404=)
c.954T>A (p.Ser318=)
c.2157T>A (p.Ser719=)
c.1821T>A (p.Ser607=)
n.2402T>A
5g.156142T>CCA442676848PLEKHG4Bc.2280T>C (p.Ser760=)
c.1212T>C (p.Ser404=)
c.954T>C (p.Ser318=)
c.2157T>C (p.Ser719=)
c.1821T>C (p.Ser607=)
n.2402T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.156142T>GCA442676851PLEKHG4Bc.2280T>G (p.Ser760=)
c.1212T>G (p.Ser404=)
c.954T>G (p.Ser318=)
c.2157T>G (p.Ser719=)
c.1821T>G (p.Ser607=)
n.2402T>G
5g.156142T=CA1521945873PLEKHG4Bc.2280T= (p.Ser760=)
c.1212T= (p.Ser404=)
c.954T= (p.Ser318=)
c.2157T= (p.Ser719=)
c.1821T= (p.Ser607=)
n.2402T=
5g.156143C>ACA359002262PLEKHG4Bc.2281C>A (p.Leu761Ile)
c.1213C>A (p.Leu405Ile)
c.955C>A (p.Leu319Ile)
c.2158C>A (p.Leu720Ile)
c.1822C>A (p.Leu608Ile)
n.2403C>A
5g.156143C=CA1521945878PLEKHG4Bc.2281C= (p.Leu761=)
c.1213C= (p.Leu405=)
c.955C= (p.Leu319=)
c.2158C= (p.Leu720=)
c.1822C= (p.Leu608=)
n.2403C=
5g.156143C>GCA3171091PLEKHG4Bc.2281C>G (p.Leu761Val)
c.1213C>G (p.Leu405Val)
c.955C>G (p.Leu319Val)
c.2158C>G (p.Leu720Val)
c.1822C>G (p.Leu608Val)
n.2403C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.156143C>TCA3171092PLEKHG4Bc.2281C>T (p.Leu761Phe)
c.1213C>T (p.Leu405Phe)
c.955C>T (p.Leu319Phe)
c.2158C>T (p.Leu720Phe)
c.1822C>T (p.Leu608Phe)
n.2403C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.156144T>ACA359002264PLEKHG4Bc.2282T>A (p.Leu761His)
c.1214T>A (p.Leu405His)
c.956T>A (p.Leu319His)
c.2159T>A (p.Leu720His)
c.1823T>A (p.Leu608His)
n.2404T>A
5g.156144T>CCA359002265PLEKHG4Bc.2282T>C (p.Leu761Pro)
c.1214T>C (p.Leu405Pro)
c.956T>C (p.Leu319Pro)
c.2159T>C (p.Leu720Pro)
c.1823T>C (p.Leu608Pro)
n.2404T>C
 gnomAD v4
5g.156144T>GCA359002266PLEKHG4Bc.2282T>G (p.Leu761Arg)
c.1214T>G (p.Leu405Arg)
c.956T>G (p.Leu319Arg)
c.2159T>G (p.Leu720Arg)
c.1823T>G (p.Leu608Arg)
n.2404T>G
5g.156145C>ACA442676867PLEKHG4Bc.2283C>A (p.Leu761=)
c.1215C>A (p.Leu405=)
c.957C>A (p.Leu319=)
c.2160C>A (p.Leu720=)
c.1824C>A (p.Leu608=)
n.2405C>A
 gnomAD v4
5g.156145C=CA1521945879PLEKHG4Bc.2283C= (p.Leu761=)
c.1215C= (p.Leu405=)
c.957C= (p.Leu319=)
c.2160C= (p.Leu720=)
c.1824C= (p.Leu608=)
n.2405C=
5g.156145C>GCA442676869PLEKHG4Bc.2283C>G (p.Leu761=)
c.1215C>G (p.Leu405=)
c.957C>G (p.Leu319=)
c.2160C>G (p.Leu720=)
c.1824C>G (p.Leu608=)
n.2405C>G
5g.156145C>TCA442676865PLEKHG4Bc.2283C>T (p.Leu761=)
c.1215C>T (p.Leu405=)
c.957C>T (p.Leu319=)
c.2160C>T (p.Leu720=)
c.1824C>T (p.Leu608=)
n.2405C>T
 dbSNP gnomAD v3 gnomAD v4
5g.156146A>CCA442676873PLEKHG4Bc.2284A>C (p.Arg762=)
c.1216A>C (p.Arg406=)
c.958A>C (p.Arg320=)
c.2161A>C (p.Arg721=)
c.1825A>C (p.Arg609=)
n.2406A>C
5g.156146A>GCA359002268PLEKHG4Bc.2284A>G (p.Arg762Gly)
c.1216A>G (p.Arg406Gly)
c.958A>G (p.Arg320Gly)
c.2161A>G (p.Arg721Gly)
c.1825A>G (p.Arg609Gly)
n.2406A>G
 gnomAD v4
5g.156146A>TCA359002269PLEKHG4Bc.2284A>T (p.Arg762Trp)
c.1216A>T (p.Arg406Trp)
c.958A>T (p.Arg320Trp)
c.2161A>T (p.Arg721Trp)
c.1825A>T (p.Arg609Trp)
n.2406A>T
5g.156147G>ACA359002271PLEKHG4Bc.2285G>A (p.Arg762Lys)
c.1217G>A (p.Arg406Lys)
c.959G>A (p.Arg320Lys)
c.2162G>A (p.Arg721Lys)
c.1826G>A (p.Arg609Lys)
n.2407G>A
5g.156147G>CCA359002273PLEKHG4Bc.2285G>C (p.Arg762Thr)
c.1217G>C (p.Arg406Thr)
c.959G>C (p.Arg320Thr)
c.2162G>C (p.Arg721Thr)
c.1826G>C (p.Arg609Thr)
n.2407G>C
5g.156147G>TCA359002274PLEKHG4Bc.2285G>T (p.Arg762Met)
c.1217G>T (p.Arg406Met)
c.959G>T (p.Arg320Met)
c.2162G>T (p.Arg721Met)
c.1826G>T (p.Arg609Met)
n.2407G>T
 gnomAD v4
5g.156148G>ACA442676884PLEKHG4Bc.2286G>A (p.Arg762=)
c.1218G>A (p.Arg406=)
c.960G>A (p.Arg320=)
c.2163G>A (p.Arg721=)
c.1827G>A (p.Arg609=)
n.2408G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.156148G>CCA359002276PLEKHG4Bc.2286G>C (p.Arg762Ser)
c.1218G>C (p.Arg406Ser)
c.960G>C (p.Arg320Ser)
c.2163G>C (p.Arg721Ser)
c.1827G>C (p.Arg609Ser)
n.2408G>C
5g.156148G=CA1521945880PLEKHG4Bc.2286G= (p.Arg762=)
c.1218G= (p.Arg406=)
c.960G= (p.Arg320=)
c.2163G= (p.Arg721=)
c.1827G= (p.Arg609=)
n.2408G=
5g.156148G>TCA359002277PLEKHG4Bc.2286G>T (p.Arg762Ser)
c.1218G>T (p.Arg406Ser)
c.960G>T (p.Arg320Ser)
c.2163G>T (p.Arg721Ser)
c.1827G>T (p.Arg609Ser)
n.2408G>T
 gnomAD v4
5g.156149C>ACA359002279PLEKHG4Bc.2287C>A (p.Leu763Met)
c.1219C>A (p.Leu407Met)
c.961C>A (p.Leu321Met)
c.2164C>A (p.Leu722Met)
c.1828C>A (p.Leu610Met)
n.2409C>A
5g.156149C>GCA359002281PLEKHG4Bc.2287C>G (p.Leu763Val)
c.1219C>G (p.Leu407Val)
c.961C>G (p.Leu321Val)
c.2164C>G (p.Leu722Val)
c.1828C>G (p.Leu610Val)
n.2409C>G
5g.156149C>TCA442676891PLEKHG4Bc.2287C>T (p.Leu763=)
c.1219C>T (p.Leu407=)
c.961C>T (p.Leu321=)
c.2164C>T (p.Leu722=)
c.1828C>T (p.Leu610=)
n.2409C>T
5g.156150T>ACA359002284PLEKHG4Bc.2288T>A (p.Leu763Gln)
c.1220T>A (p.Leu407Gln)
c.962T>A (p.Leu321Gln)
c.2165T>A (p.Leu722Gln)
c.1829T>A (p.Leu610Gln)
n.2410T>A
 gnomAD v3 gnomAD v4
5g.156150T>CCA359002285PLEKHG4Bc.2288T>C (p.Leu763Pro)
c.1220T>C (p.Leu407Pro)
c.962T>C (p.Leu321Pro)
c.2165T>C (p.Leu722Pro)
c.1829T>C (p.Leu610Pro)
n.2410T>C
 gnomAD v4
5g.156150T>GCA359002283PLEKHG4Bc.2288T>G (p.Leu763Arg)
c.1220T>G (p.Leu407Arg)
c.962T>G (p.Leu321Arg)
c.2165T>G (p.Leu722Arg)
c.1829T>G (p.Leu610Arg)
n.2410T>G
5g.156151G>ACA442676902PLEKHG4Bc.2289G>A (p.Leu763=)
c.1221G>A (p.Leu407=)
c.963G>A (p.Leu321=)
c.2166G>A (p.Leu722=)
c.1830G>A (p.Leu610=)
n.2411G>A
 dbSNP gnomAD v2 gnomAD v4
5g.156151G>CCA442676904PLEKHG4Bc.2289G>C (p.Leu763=)
c.1221G>C (p.Leu407=)
c.963G>C (p.Leu321=)
c.2166G>C (p.Leu722=)
c.1830G>C (p.Leu610=)
n.2411G>C
5g.156151G=CA1521945882PLEKHG4Bc.2289G= (p.Leu763=)
c.1221G= (p.Leu407=)
c.963G= (p.Leu321=)
c.2166G= (p.Leu722=)
c.1830G= (p.Leu610=)
n.2411G=
5g.156151G>TCA442676906PLEKHG4Bc.2289G>T (p.Leu763=)
c.1221G>T (p.Leu407=)
c.963G>T (p.Leu321=)
c.2166G>T (p.Leu722=)
c.1830G>T (p.Leu610=)
n.2411G>T
 dbSNP gnomAD v4
5g.156152delCA1072431910PLEKHG4Bc.2290del (p.Glu764ArgfsTer9)
c.1222del (p.Glu408ArgfsTer9)
c.964del (p.Glu322ArgfsTer9)
c.2167del (p.Glu723ArgfsTer9)
c.1831del (p.Glu611ArgfsTer9)
n.2412del
 gnomAD v3 gnomAD v4
5g.156152G>ACA359002288PLEKHG4Bc.2290G>A (p.Glu764Lys)
c.1222G>A (p.Glu408Lys)
c.964G>A (p.Glu322Lys)
c.2167G>A (p.Glu723Lys)
c.1831G>A (p.Glu611Lys)
n.2412G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC
5g.156152G>CCA359002287PLEKHG4Bc.2290G>C (p.Glu764Gln)
c.1222G>C (p.Glu408Gln)
c.964G>C (p.Glu322Gln)
c.2167G>C (p.Glu723Gln)
c.1831G>C (p.Glu611Gln)
n.2412G>C
 gnomAD v4
5g.156152G=CA1521945884PLEKHG4Bc.2290G= (p.Glu764=)
c.1222G= (p.Glu408=)
c.964G= (p.Glu322=)
c.2167G= (p.Glu723=)
c.1831G= (p.Glu611=)
n.2412G=
5g.156152G>TCA359002290PLEKHG4Bc.2290G>T (p.Glu764Ter)
c.1222G>T (p.Glu408Ter)
c.964G>T (p.Glu322Ter)
c.2167G>T (p.Glu723Ter)
c.1831G>T (p.Glu611Ter)
n.2412G>T
5g.156153delCA2672950823PLEKHG4Bc.2291del (p.Glu764GlyfsTer9)
c.1223del (p.Glu408GlyfsTer9)
c.965del (p.Glu322GlyfsTer9)
c.2168del (p.Glu723GlyfsTer9)
c.1832del (p.Glu611GlyfsTer9)
n.2413del
 gnomAD v4
5g.156153A>CCA359002292PLEKHG4Bc.2291A>C (p.Glu764Ala)
c.1223A>C (p.Glu408Ala)
c.965A>C (p.Glu322Ala)
c.2168A>C (p.Glu723Ala)
c.1832A>C (p.Glu611Ala)
n.2413A>C
5g.156153A>GCA359002293PLEKHG4Bc.2291A>G (p.Glu764Gly)
c.1223A>G (p.Glu408Gly)
c.965A>G (p.Glu322Gly)
c.2168A>G (p.Glu723Gly)
c.1832A>G (p.Glu611Gly)
n.2413A>G
 gnomAD v4
5g.156153A>TCA359002295PLEKHG4Bc.2291A>T (p.Glu764Val)
c.1223A>T (p.Glu408Val)
c.965A>T (p.Glu322Val)
c.2168A>T (p.Glu723Val)
c.1832A>T (p.Glu611Val)
n.2413A>T
5g.156153_156154delinsAGCA1521945885PLEKHG4Bc.2291_2292delinsAG (p.Glu764=)
c.1223_1224delinsAG (p.Glu408=)
c.965_966delinsAG (p.Glu322=)
c.2168_2169delinsAG (p.Glu723=)
c.1832_1833delinsAG (p.Glu611=)
n.2413_2414delinsAG
5g.156154G>ACA442676921PLEKHG4Bc.2292G>A (p.Glu764=)
c.1224G>A (p.Glu408=)
c.966G>A (p.Glu322=)
c.2169G>A (p.Glu723=)
c.1833G>A (p.Glu611=)
n.2414G>A
 gnomAD v4
5g.156154G>CCA359002296PLEKHG4Bc.2292G>C (p.Glu764Asp)
c.1224G>C (p.Glu408Asp)
c.966G>C (p.Glu322Asp)
c.2169G>C (p.Glu723Asp)
c.1833G>C (p.Glu611Asp)
n.2414G>C
5g.156154G=CA1521945886PLEKHG4Bc.2292G= (p.Glu764=)
c.1224G= (p.Glu408=)
c.966G= (p.Glu322=)
c.2169G= (p.Glu723=)
c.1833G= (p.Glu611=)
n.2414G=
5g.156154G>TCA3171093PLEKHG4Bc.2292G>T (p.Glu764Asp)
c.1224G>T (p.Glu408Asp)
c.966G>T (p.Glu322Asp)
c.2169G>T (p.Glu723Asp)
c.1833G>T (p.Glu611Asp)
n.2414G>T
 dbSNP ExAC gnomAD v2
5g.156159dupCA557111645PLEKHG4Bc.2297dup (p.Thr767HisfsTer?)
c.1229dup (p.Thr411HisfsTer?)
c.971dup (p.Thr325HisfsTer?)
c.2174dup (p.Thr726HisfsTer?)
c.1838dup (p.Thr614HisfsTer?)
n.2419dup
 dbSNP gnomAD v2 gnomAD v4
5g.156157_156159dupCA2764997402PLEKHG4Bc.2295_2297dup (p.Gly766_Thr767insGly)
c.1227_1229dup (p.Gly410_Thr411insGly)
c.969_971dup (p.Gly324_Thr325insGly)
c.2172_2174dup (p.Gly725_Thr726insGly)
c.1836_1838dup (p.Gly613_Thr614insGly)
n.2417_2419dup
5g.156159delCA645540715PLEKHG4Bc.2297del (p.Gly766AlafsTer7)
c.1229del (p.Gly410AlafsTer7)
c.971del (p.Gly324AlafsTer7)
c.2174del (p.Gly725AlafsTer7)
c.1838del (p.Gly613AlafsTer7)
n.2419del
 dbSNP gnomAD v4 COSMIC COSMIC
5g.156155G>ACA359002298PLEKHG4Bc.2293G>A (p.Gly765Arg)
c.1225G>A (p.Gly409Arg)
c.967G>A (p.Gly323Arg)
c.2170G>A (p.Gly724Arg)
c.1834G>A (p.Gly612Arg)
n.2415G>A
5g.156155G>CCA359002300PLEKHG4Bc.2293G>C (p.Gly765Arg)
c.1225G>C (p.Gly409Arg)
c.967G>C (p.Gly323Arg)
c.2170G>C (p.Gly724Arg)
c.1834G>C (p.Gly612Arg)
n.2415G>C
 dbSNP gnomAD v3 gnomAD v4
5g.156155G=CA1521945887PLEKHG4Bc.2293G= (p.Gly765=)
c.1225G= (p.Gly409=)
c.967G= (p.Gly323=)
c.2170G= (p.Gly724=)
c.1834G= (p.Gly612=)
n.2415G=
5g.156155G>TCA359002301PLEKHG4Bc.2293G>T (p.Gly765Trp)
c.1225G>T (p.Gly409Trp)
c.967G>T (p.Gly323Trp)
c.2170G>T (p.Gly724Trp)
c.1834G>T (p.Gly612Trp)
n.2415G>T
 dbSNP gnomAD v3 gnomAD v4
5g.156156G>ACA3171094PLEKHG4Bc.2294G>A (p.Gly765Glu)
c.1226G>A (p.Gly409Glu)
c.968G>A (p.Gly323Glu)
c.2171G>A (p.Gly724Glu)
c.1835G>A (p.Gly612Glu)
n.2416G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.156156G>CCA359002304PLEKHG4Bc.2294G>C (p.Gly765Ala)
c.1226G>C (p.Gly409Ala)
c.968G>C (p.Gly323Ala)
c.2171G>C (p.Gly724Ala)
c.1835G>C (p.Gly612Ala)
n.2416G>C
 dbSNP gnomAD v4
5g.156156G=CA1521945888PLEKHG4Bc.2294G= (p.Gly765=)
c.1226G= (p.Gly409=)
c.968G= (p.Gly323=)
c.2171G= (p.Gly724=)
c.1835G= (p.Gly612=)
n.2416G=
5g.156156G>TCA359002305PLEKHG4Bc.2294G>T (p.Gly765Val)
c.1226G>T (p.Gly409Val)
c.968G>T (p.Gly323Val)
c.2171G>T (p.Gly724Val)
c.1835G>T (p.Gly612Val)
n.2416G>T
 gnomAD v3 gnomAD v4
5g.156157G>ACA442676938PLEKHG4Bc.2295G>A (p.Gly765=)
c.1227G>A (p.Gly409=)
c.969G>A (p.Gly323=)
c.2172G>A (p.Gly724=)
c.1836G>A (p.Gly612=)
n.2417G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.156157G>CCA3171095PLEKHG4Bc.2295G>C (p.Gly765=)
c.1227G>C (p.Gly409=)
c.969G>C (p.Gly323=)
c.2172G>C (p.Gly724=)
c.1836G>C (p.Gly612=)
n.2417G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.156157G=CA1521945889PLEKHG4Bc.2295G= (p.Gly765=)
c.1227G= (p.Gly409=)
c.969G= (p.Gly323=)
c.2172G= (p.Gly724=)
c.1836G= (p.Gly612=)
n.2417G=
5g.156157G>TCA442676940PLEKHG4Bc.2295G>T (p.Gly765=)
c.1227G>T (p.Gly409=)
c.969G>T (p.Gly323=)
c.2172G>T (p.Gly724=)
c.1836G>T (p.Gly612=)
n.2417G>T
 dbSNP
5g.156158G>ACA359002310PLEKHG4Bc.2296G>A (p.Gly766Ser)
c.1228G>A (p.Gly410Ser)
c.970G>A (p.Gly324Ser)
c.2173G>A (p.Gly725Ser)
c.1837G>A (p.Gly613Ser)
n.2418G>A
 gnomAD v4
5g.156158G>CCA359002308PLEKHG4Bc.2296G>C (p.Gly766Arg)
c.1228G>C (p.Gly410Arg)
c.970G>C (p.Gly324Arg)
c.2173G>C (p.Gly725Arg)
c.1837G>C (p.Gly613Arg)
n.2418G>C
5g.156158G>TCA359002307PLEKHG4Bc.2296G>T (p.Gly766Cys)
c.1228G>T (p.Gly410Cys)
c.970G>T (p.Gly324Cys)
c.2173G>T (p.Gly725Cys)
c.1837G>T (p.Gly613Cys)
n.2418G>T
5g.156159G>ACA359002311PLEKHG4Bc.2297G>A (p.Gly766Asp)
c.1229G>A (p.Gly410Asp)
c.971G>A (p.Gly324Asp)
c.2174G>A (p.Gly725Asp)
c.1838G>A (p.Gly613Asp)
n.2419G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.156159G>CCA359002313PLEKHG4Bc.2297G>C (p.Gly766Ala)
c.1229G>C (p.Gly410Ala)
c.971G>C (p.Gly324Ala)
c.2174G>C (p.Gly725Ala)
c.1838G>C (p.Gly613Ala)
n.2419G>C
 ClinVar
5g.156159G=CA1521945890PLEKHG4Bc.2297G= (p.Gly766=)
c.1229G= (p.Gly410=)
c.971G= (p.Gly324=)
c.2174G= (p.Gly725=)
c.1838G= (p.Gly613=)
n.2419G=
5g.156159G>TCA359002314PLEKHG4Bc.2297G>T (p.Gly766Val)
c.1229G>T (p.Gly410Val)
c.971G>T (p.Gly324Val)
c.2174G>T (p.Gly725Val)
c.1838G>T (p.Gly613Val)
n.2419G>T
 gnomAD v4 COSMIC
5g.156160C>ACA442676951PLEKHG4Bc.2298C>A (p.Gly766=)
c.1230C>A (p.Gly410=)
c.972C>A (p.Gly324=)
c.2175C>A (p.Gly725=)
c.1839C>A (p.Gly613=)
n.2420C>A
 gnomAD v4
5g.156160C>GCA442676950PLEKHG4Bc.2298C>G (p.Gly766=)
c.1230C>G (p.Gly410=)
c.972C>G (p.Gly324=)
c.2175C>G (p.Gly725=)
c.1839C>G (p.Gly613=)
n.2420C>G
5g.156160C>TCA442676949PLEKHG4Bc.2298C>T (p.Gly766=)
c.1230C>T (p.Gly410=)
c.972C>T (p.Gly324=)
c.2175C>T (p.Gly725=)
c.1839C>T (p.Gly613=)
n.2420C>T
 gnomAD v4
5g.156161A>CCA359002316PLEKHG4Bc.2299A>C (p.Thr767Pro)
c.1231A>C (p.Thr411Pro)
c.973A>C (p.Thr325Pro)
c.2176A>C (p.Thr726Pro)
c.1840A>C (p.Thr614Pro)
n.2421A>C
5g.156161A>GCA359002317PLEKHG4Bc.2299A>G (p.Thr767Ala)
c.1231A>G (p.Thr411Ala)
c.973A>G (p.Thr325Ala)
c.2176A>G (p.Thr726Ala)
c.1840A>G (p.Thr614Ala)
n.2421A>G
5g.156161A>TCA359002318PLEKHG4Bc.2299A>T (p.Thr767Ser)
c.1231A>T (p.Thr411Ser)
c.973A>T (p.Thr325Ser)
c.2176A>T (p.Thr726Ser)
c.1840A>T (p.Thr614Ser)
n.2421A>T
5g.156162C>ACA359002320PLEKHG4Bc.2300C>A (p.Thr767Asn)
c.1232C>A (p.Thr411Asn)
c.974C>A (p.Thr325Asn)
c.2177C>A (p.Thr726Asn)
c.1841C>A (p.Thr614Asn)
n.2422C>A
5g.156162C=CA1521945891PLEKHG4Bc.2300C= (p.Thr767=)
c.1232C= (p.Thr411=)
c.974C= (p.Thr325=)
c.2177C= (p.Thr726=)
c.1841C= (p.Thr614=)
n.2422C=
5g.156162C>GCA359002322PLEKHG4Bc.2300C>G (p.Thr767Ser)
c.1232C>G (p.Thr411Ser)
c.974C>G (p.Thr325Ser)
c.2177C>G (p.Thr726Ser)
c.1841C>G (p.Thr614Ser)
n.2422C>G
5g.156162C>TCA112735272PLEKHG4Bc.2300C>T (p.Thr767Ile)
c.1232C>T (p.Thr411Ile)
c.974C>T (p.Thr325Ile)
c.2177C>T (p.Thr726Ile)
c.1841C>T (p.Thr614Ile)
n.2422C>T
 dbSNP gnomAD v3 gnomAD v4
5g.156163C>ACA442676952PLEKHG4Bc.2301C>A (p.Thr767=)
c.1233C>A (p.Thr411=)
c.975C>A (p.Thr325=)
c.2178C>A (p.Thr726=)
c.1842C>A (p.Thr614=)
n.2423C>A
 gnomAD v4
5g.156163C=CA1521945892PLEKHG4Bc.2301C= (p.Thr767=)
c.1233C= (p.Thr411=)
c.975C= (p.Thr325=)
c.2178C= (p.Thr726=)
c.1842C= (p.Thr614=)
n.2423C=
5g.156163C>GCA442676953PLEKHG4Bc.2301C>G (p.Thr767=)
c.1233C>G (p.Thr411=)
c.975C>G (p.Thr325=)
c.2178C>G (p.Thr726=)
c.1842C>G (p.Thr614=)
n.2423C>G
5g.156163C>TCA442676954PLEKHG4Bc.2301C>T (p.Thr767=)
c.1233C>T (p.Thr411=)
c.975C>T (p.Thr325=)
c.2178C>T (p.Thr726=)
c.1842C>T (p.Thr614=)
n.2423C>T
 dbSNP gnomAD v2 gnomAD v4
5g.156163_156164insAGAATGAGCTCATTCTTCA2764997403PLEKHG4Bc.2301_2302insAGAATGAGCTCATTCTT (p.Val768ArgfsTer11)
c.1233_1234insAGAATGAGCTCATTCTT (p.Val412ArgfsTer11)
c.975_976insAGAATGAGCTCATTCTT (p.Val326ArgfsTer11)
c.2178_2179insAGAATGAGCTCATTCTT (p.Val727ArgfsTer11)
c.1842_1843insAGAATGAGCTCATTCTT (p.Val615ArgfsTer11)
n.2423_2424insAGAATGAGCTCATTCTT
5g.156164G>ACA3171096PLEKHG4Bc.2302G>A (p.Val768Ile)
c.1234G>A (p.Val412Ile)
c.976G>A (p.Val326Ile)
c.2179G>A (p.Val727Ile)
c.1843G>A (p.Val615Ile)
n.2424G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.156164G>CCA3171097PLEKHG4Bc.2302G>C (p.Val768Leu)
c.1234G>C (p.Val412Leu)
c.976G>C (p.Val326Leu)
c.2179G>C (p.Val727Leu)
c.1843G>C (p.Val615Leu)
n.2424G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.156164G=CA1521945893PLEKHG4Bc.2302G= (p.Val768=)
c.1234G= (p.Val412=)
c.976G= (p.Val326=)
c.2179G= (p.Val727=)
c.1843G= (p.Val615=)
n.2424G=
5g.156164G>TCA112735292PLEKHG4Bc.2302G>T (p.Val768Phe)
c.1234G>T (p.Val412Phe)
c.976G>T (p.Val326Phe)
c.2179G>T (p.Val727Phe)
c.1843G>T (p.Val615Phe)
n.2424G>T
 dbSNP gnomAD v4 COSMIC
5g.156165T>ACA359002329PLEKHG4Bc.2303T>A (p.Val768Asp)
c.1235T>A (p.Val412Asp)
c.977T>A (p.Val326Asp)
c.2180T>A (p.Val727Asp)
c.1844T>A (p.Val615Asp)
n.2425T>A
5g.156165T>CCA359002328PLEKHG4Bc.2303T>C (p.Val768Ala)
c.1235T>C (p.Val412Ala)
c.977T>C (p.Val326Ala)
c.2180T>C (p.Val727Ala)
c.1844T>C (p.Val615Ala)
n.2425T>C
 gnomAD v4 COSMIC
5g.156165T>GCA359002327PLEKHG4Bc.2303T>G (p.Val768Gly)
c.1235T>G (p.Val412Gly)
c.977T>G (p.Val326Gly)
c.2180T>G (p.Val727Gly)
c.1844T>G (p.Val615Gly)
n.2425T>G
5g.156166C>ACA442676955PLEKHG4Bc.2304C>A (p.Val768=)
c.1236C>A (p.Val412=)
c.978C>A (p.Val326=)
c.2181C>A (p.Val727=)
c.1845C>A (p.Val615=)
n.2426C>A
5g.156166C>GCA442676956PLEKHG4Bc.2304C>G (p.Val768=)
c.1236C>G (p.Val412=)
c.978C>G (p.Val326=)
c.2181C>G (p.Val727=)
c.1845C>G (p.Val615=)
n.2426C>G
5g.156166C>TCA442676957PLEKHG4Bc.2304C>T (p.Val768=)
c.1236C>T (p.Val412=)
c.978C>T (p.Val326=)
c.2181C>T (p.Val727=)
c.1845C>T (p.Val615=)
n.2426C>T
 gnomAD v4
5g.156172_156244delCA2672950824PLEKHG4Bc.2310_2348+34del
c.1242_1280+34del
c.984_1022+34del
c.2187_2225+34del
c.1851_1889+34del
n.2432_2470+34del
 gnomAD v4
5g.156167C>ACA359002331PLEKHG4Bc.2305C>A (p.Leu769Met)
c.1237C>A (p.Leu413Met)
c.979C>A (p.Leu327Met)
c.2182C>A (p.Leu728Met)
c.1846C>A (p.Leu616Met)
n.2427C>A
 gnomAD v4
5g.156167C=CA1521945894PLEKHG4Bc.2305C= (p.Leu769=)
c.1237C= (p.Leu413=)
c.979C= (p.Leu327=)
c.2182C= (p.Leu728=)
c.1846C= (p.Leu616=)
n.2427C=
5g.156167C>GCA3171098PLEKHG4Bc.2305C>G (p.Leu769Val)
c.1237C>G (p.Leu413Val)
c.979C>G (p.Leu327Val)
c.2182C>G (p.Leu728Val)
c.1846C>G (p.Leu616Val)
n.2427C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.156167C>TCA442676958PLEKHG4Bc.2305C>T (p.Leu769=)
c.1237C>T (p.Leu413=)
c.979C>T (p.Leu327=)
c.2182C>T (p.Leu728=)
c.1846C>T (p.Leu616=)
n.2427C>T
 dbSNP gnomAD v4
5g.156168T>ACA359002333PLEKHG4Bc.2306T>A (p.Leu769Gln)
c.1238T>A (p.Leu413Gln)
c.980T>A (p.Leu327Gln)
c.2183T>A (p.Leu728Gln)
c.1847T>A (p.Leu616Gln)
n.2428T>A
5g.156168T>CCA359002335PLEKHG4Bc.2306T>C (p.Leu769Pro)
c.1238T>C (p.Leu413Pro)
c.980T>C (p.Leu327Pro)
c.2183T>C (p.Leu728Pro)
c.1847T>C (p.Leu616Pro)
n.2428T>C
 gnomAD v4
5g.156168T>GCA359002336PLEKHG4Bc.2306T>G (p.Leu769Arg)
c.1238T>G (p.Leu413Arg)
c.980T>G (p.Leu327Arg)
c.2183T>G (p.Leu728Arg)
c.1847T>G (p.Leu616Arg)
n.2428T>G
5g.156169G>ACA3171099PLEKHG4Bc.2307G>A (p.Leu769=)
c.1239G>A (p.Leu413=)
c.981G>A (p.Leu327=)
c.2184G>A (p.Leu728=)
c.1848G>A (p.Leu616=)
n.2429G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.156169G>CCA442676961PLEKHG4Bc.2307G>C (p.Leu769=)
c.1239G>C (p.Leu413=)
c.981G>C (p.Leu327=)
c.2184G>C (p.Leu728=)
c.1848G>C (p.Leu616=)
n.2429G>C
5g.156169G=CA1521945895PLEKHG4Bc.2307G= (p.Leu769=)
c.1239G= (p.Leu413=)
c.981G= (p.Leu327=)
c.2184G= (p.Leu728=)
c.1848G= (p.Leu616=)
n.2429G=
5g.156169G>TCA442676960PLEKHG4Bc.2307G>T (p.Leu769=)
c.1239G>T (p.Leu413=)
c.981G>T (p.Leu327=)
c.2184G>T (p.Leu728=)
c.1848G>T (p.Leu616=)
n.2429G>T
5g.156170G>ACA359002338PLEKHG4Bc.2308G>A (p.Ala770Thr)
c.1240G>A (p.Ala414Thr)
c.982G>A (p.Ala328Thr)
c.2185G>A (p.Ala729Thr)
c.1849G>A (p.Ala617Thr)
n.2430G>A
 gnomAD v4 COSMIC
5g.156170G>CCA359002339PLEKHG4Bc.2308G>C (p.Ala770Pro)
c.1240G>C (p.Ala414Pro)
c.982G>C (p.Ala328Pro)
c.2185G>C (p.Ala729Pro)
c.1849G>C (p.Ala617Pro)
n.2430G>C
5g.156170G>TCA359002340PLEKHG4Bc.2308G>T (p.Ala770Ser)
c.1240G>T (p.Ala414Ser)
c.982G>T (p.Ala328Ser)
c.2185G>T (p.Ala729Ser)
c.1849G>T (p.Ala617Ser)
n.2430G>T
5g.156171C>ACA359002341PLEKHG4Bc.2309C>A (p.Ala770Glu)
c.1241C>A (p.Ala414Glu)
c.983C>A (p.Ala328Glu)
c.2186C>A (p.Ala729Glu)
c.1850C>A (p.Ala617Glu)
n.2431C>A
 gnomAD v4 COSMIC
5g.156171C=CA1521945896PLEKHG4Bc.2309C= (p.Ala770=)
c.1241C= (p.Ala414=)
c.983C= (p.Ala328=)
c.2186C= (p.Ala729=)
c.1850C= (p.Ala617=)
n.2431C=
5g.156171C>GCA359002342PLEKHG4Bc.2309C>G (p.Ala770Gly)
c.1241C>G (p.Ala414Gly)
c.983C>G (p.Ala328Gly)
c.2186C>G (p.Ala729Gly)
c.1850C>G (p.Ala617Gly)
n.2431C>G
5g.156171C>TCA112735334PLEKHG4Bc.2309C>T (p.Ala770Val)
c.1241C>T (p.Ala414Val)
c.983C>T (p.Ala328Val)
c.2186C>T (p.Ala729Val)
c.1850C>T (p.Ala617Val)
n.2431C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.156172G>ACA3171100PLEKHG4Bc.2310G>A (p.Ala770=)
c.1242G>A (p.Ala414=)
c.984G>A (p.Ala328=)
c.2187G>A (p.Ala729=)
c.1851G>A (p.Ala617=)
n.2432G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.156172G>CCA442676962PLEKHG4Bc.2310G>C (p.Ala770=)
c.1242G>C (p.Ala414=)
c.984G>C (p.Ala328=)
c.2187G>C (p.Ala729=)
c.1851G>C (p.Ala617=)
n.2432G>C
5g.156172G=CA1521945897PLEKHG4Bc.2310G= (p.Ala770=)
c.1242G= (p.Ala414=)
c.984G= (p.Ala328=)
c.2187G= (p.Ala729=)
c.1851G= (p.Ala617=)
n.2432G=
5g.156172G>TCA442676963PLEKHG4Bc.2310G>T (p.Ala770=)
c.1242G>T (p.Ala414=)
c.984G>T (p.Ala328=)
c.2187G>T (p.Ala729=)
c.1851G>T (p.Ala617=)
n.2432G>T
5g.156173C>ACA442676964PLEKHG4Bc.2311C>A (p.Arg771=)
c.1243C>A (p.Arg415=)
c.985C>A (p.Arg329=)
c.2188C>A (p.Arg730=)
c.1852C>A (p.Arg618=)
n.2433C>A
 gnomAD v4
5g.156173C=CA1521945899PLEKHG4Bc.2311C= (p.Arg771=)
c.1243C= (p.Arg415=)
c.985C= (p.Arg329=)
c.2188C= (p.Arg730=)
c.1852C= (p.Arg618=)
n.2433C=
5g.156173C>GCA359002344PLEKHG4Bc.2311C>G (p.Arg771Gly)
c.1243C>G (p.Arg415Gly)
c.985C>G (p.Arg329Gly)
c.2188C>G (p.Arg730Gly)
c.1852C>G (p.Arg618Gly)
n.2433C>G
5g.156173C>TCA174792PLEKHG4Bc.2311C>T (p.Arg771Trp)
c.1243C>T (p.Arg415Trp)
c.985C>T (p.Arg329Trp)
c.2188C>T (p.Arg730Trp)
c.1852C>T (p.Arg618Trp)
n.2433C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched