Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.7462259C>ACA505219006ARHGEF18c.1522C>A (p.Arg508=)
c.1834C>A (p.Arg612=)
c.2560C>A (p.Arg854=)
c.1996C>A (p.Arg666=)
c.929C>A
c.1796C>A
c.2755C>A (p.Arg919=)
c.2512C>A (p.Arg838=)
gnomAD v4
19g.7462259C=CA2320929821ARHGEF18c.1522C= (p.Arg508=)
c.1834C= (p.Arg612=)
c.2560C= (p.Arg854=)
c.1996C= (p.Arg666=)
c.929C=
c.1796C=
c.2755C= (p.Arg919=)
c.2512C= (p.Arg838=)
19g.7462259C>GCA403081181ARHGEF18c.1522C>G (p.Arg508Gly)
c.1834C>G (p.Arg612Gly)
c.2560C>G (p.Arg854Gly)
c.1996C>G (p.Arg666Gly)
c.929C>G
c.1796C>G
c.2755C>G (p.Arg919Gly)
c.2512C>G (p.Arg838Gly)
gnomAD v4
19g.7462259C>TCA16616862ARHGEF18c.1522C>T (p.Arg508Ter)
c.1834C>T (p.Arg612Ter)
c.2560C>T (p.Arg854Ter)
c.1996C>T (p.Arg666Ter)
c.929C>T
c.1796C>T
c.2755C>T (p.Arg919Ter)
c.2512C>T (p.Arg838Ter)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.7462260G>ACA9136903ARHGEF18c.1523G>A (p.Arg508Gln)
c.1835G>A (p.Arg612Gln)
c.2561G>A (p.Arg854Gln)
c.1997G>A (p.Arg666Gln)
c.930G>A
c.1797G>A
c.2756G>A (p.Arg919Gln)
c.2513G>A (p.Arg838Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7462260G>CCA9136902ARHGEF18c.1523G>C (p.Arg508Pro)
c.1835G>C (p.Arg612Pro)
c.2561G>C (p.Arg854Pro)
c.1997G>C (p.Arg666Pro)
c.930G>C
c.1797G>C
c.2756G>C (p.Arg919Pro)
c.2513G>C (p.Arg838Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7462260G=CA2320929822ARHGEF18c.1523G= (p.Arg508=)
c.1835G= (p.Arg612=)
c.2561G= (p.Arg854=)
c.1997G= (p.Arg666=)
c.930G=
c.1797G=
c.2756G= (p.Arg919=)
c.2513G= (p.Arg838=)
19g.7462260G>TCA403081183ARHGEF18c.1523G>T (p.Arg508Leu)
c.1835G>T (p.Arg612Leu)
c.2561G>T (p.Arg854Leu)
c.1997G>T (p.Arg666Leu)
c.930G>T
c.1797G>T
c.2756G>T (p.Arg919Leu)
c.2513G>T (p.Arg838Leu)
dbSNP gnomAD v2 gnomAD v4
19g.7462261A>CCA505219007ARHGEF18c.1524A>C (p.Arg508=)
c.1836A>C (p.Arg612=)
c.2562A>C (p.Arg854=)
c.1998A>C (p.Arg666=)
c.931A>C
c.1798A>C
c.2757A>C (p.Arg919=)
c.2514A>C (p.Arg838=)
19g.7462261A>GCA505219008ARHGEF18c.1524A>G (p.Arg508=)
c.1836A>G (p.Arg612=)
c.2562A>G (p.Arg854=)
c.1998A>G (p.Arg666=)
c.931A>G
c.1798A>G
c.2757A>G (p.Arg919=)
c.2514A>G (p.Arg838=)
19g.7462261A>TCA505219009ARHGEF18c.1524A>T (p.Arg508=)
c.1836A>T (p.Arg612=)
c.2562A>T (p.Arg854=)
c.1998A>T (p.Arg666=)
c.931A>T
c.1798A>T
c.2757A>T (p.Arg919=)
c.2514A>T (p.Arg838=)
19g.7462262G>ACA403081185ARHGEF18c.1525G>A (p.Gly509Ser)
c.1837G>A (p.Gly613Ser)
c.2563G>A (p.Gly855Ser)
c.1999G>A (p.Gly667Ser)
c.932G>A
c.1799G>A
c.2758G>A (p.Gly920Ser)
c.2515G>A (p.Gly839Ser)
gnomAD v4
19g.7462262G>CCA403081199ARHGEF18c.1525G>C (p.Gly509Arg)
c.1837G>C (p.Gly613Arg)
c.2563G>C (p.Gly855Arg)
c.1999G>C (p.Gly667Arg)
c.932G>C
c.1799G>C
c.2758G>C (p.Gly920Arg)
c.2515G>C (p.Gly839Arg)
19g.7462262G>TCA403081201ARHGEF18c.1525G>T (p.Gly509Cys)
c.1837G>T (p.Gly613Cys)
c.2563G>T (p.Gly855Cys)
c.1999G>T (p.Gly667Cys)
c.932G>T
c.1799G>T
c.2758G>T (p.Gly920Cys)
c.2515G>T (p.Gly839Cys)
19g.7462263G>ACA403081203ARHGEF18c.1526G>A (p.Gly509Asp)
c.1838G>A (p.Gly613Asp)
c.2564G>A (p.Gly855Asp)
c.2000G>A (p.Gly667Asp)
c.933G>A
c.1800G>A
c.2759G>A (p.Gly920Asp)
c.2516G>A (p.Gly839Asp)
gnomAD v4
19g.7462263G>CCA403081207ARHGEF18c.1526G>C (p.Gly509Ala)
c.1838G>C (p.Gly613Ala)
c.2564G>C (p.Gly855Ala)
c.2000G>C (p.Gly667Ala)
c.933G>C
c.1800G>C
c.2759G>C (p.Gly920Ala)
c.2516G>C (p.Gly839Ala)
19g.7462263G>TCA403081205ARHGEF18c.1526G>T (p.Gly509Val)
c.1838G>T (p.Gly613Val)
c.2564G>T (p.Gly855Val)
c.2000G>T (p.Gly667Val)
c.933G>T
c.1800G>T
c.2759G>T (p.Gly920Val)
c.2516G>T (p.Gly839Val)
19g.7462264C>ACA505219010ARHGEF18c.1527C>A (p.Gly509=)
c.1839C>A (p.Gly613=)
c.2565C>A (p.Gly855=)
c.2001C>A (p.Gly667=)
c.934C>A
c.1801C>A
c.2760C>A (p.Gly920=)
c.2517C>A (p.Gly839=)
19g.7462264C>GCA505219011ARHGEF18c.1527C>G (p.Gly509=)
c.1839C>G (p.Gly613=)
c.2565C>G (p.Gly855=)
c.2001C>G (p.Gly667=)
c.934C>G
c.1801C>G
c.2760C>G (p.Gly920=)
c.2517C>G (p.Gly839=)
19g.7462264C>TCA505219012ARHGEF18c.1527C>T (p.Gly509=)
c.1839C>T (p.Gly613=)
c.2565C>T (p.Gly855=)
c.2001C>T (p.Gly667=)
c.934C>T
c.1801C>T
c.2760C>T (p.Gly920=)
c.2517C>T (p.Gly839=)
19g.7462265C>ACA403081208ARHGEF18c.1528C>A (p.Leu510Ile)
c.1840C>A (p.Leu614Ile)
c.2566C>A (p.Leu856Ile)
c.2002C>A (p.Leu668Ile)
c.935C>A
c.1802C>A
c.2761C>A (p.Leu921Ile)
c.2518C>A (p.Leu840Ile)
19g.7462265C=CA2320929823ARHGEF18c.1528C= (p.Leu510=)
c.1840C= (p.Leu614=)
c.2566C= (p.Leu856=)
c.2002C= (p.Leu668=)
c.935C=
c.1802C=
c.2761C= (p.Leu921=)
c.2518C= (p.Leu840=)
19g.7462265C>GCA403081210ARHGEF18c.1528C>G (p.Leu510Val)
c.1840C>G (p.Leu614Val)
c.2566C>G (p.Leu856Val)
c.2002C>G (p.Leu668Val)
c.935C>G
c.1802C>G
c.2761C>G (p.Leu921Val)
c.2518C>G (p.Leu840Val)
dbSNP gnomAD v3 gnomAD v4
19g.7462265C>TCA505219015ARHGEF18c.1528C>T (p.Leu510=)
c.1840C>T (p.Leu614=)
c.2566C>T (p.Leu856=)
c.2002C>T (p.Leu668=)
c.935C>T
c.1802C>T
c.2761C>T (p.Leu921=)
c.2518C>T (p.Leu840=)
19g.7462266T>ACA403081212ARHGEF18c.1529T>A (p.Leu510Gln)
c.1841T>A (p.Leu614Gln)
c.2567T>A (p.Leu856Gln)
c.2003T>A (p.Leu668Gln)
c.936T>A
c.1803T>A
c.2762T>A (p.Leu921Gln)
c.2519T>A (p.Leu840Gln)
19g.7462266T>CCA403081213ARHGEF18c.1529T>C (p.Leu510Pro)
c.1841T>C (p.Leu614Pro)
c.2567T>C (p.Leu856Pro)
c.2003T>C (p.Leu668Pro)
c.936T>C
c.1803T>C
c.2762T>C (p.Leu921Pro)
c.2519T>C (p.Leu840Pro)
19g.7462266T>GCA403081214ARHGEF18c.1529T>G (p.Leu510Arg)
c.1841T>G (p.Leu614Arg)
c.2567T>G (p.Leu856Arg)
c.2003T>G (p.Leu668Arg)
c.936T>G
c.1803T>G
c.2762T>G (p.Leu921Arg)
c.2519T>G (p.Leu840Arg)
19g.7462267A>CCA505219016ARHGEF18c.1530A>C (p.Leu510=)
c.1842A>C (p.Leu614=)
c.2568A>C (p.Leu856=)
c.2004A>C (p.Leu668=)
c.937A>C
c.1804A>C
c.2763A>C (p.Leu921=)
c.2520A>C (p.Leu840=)
gnomAD v4
19g.7462267A>GCA505219017ARHGEF18c.1530A>G (p.Leu510=)
c.1842A>G (p.Leu614=)
c.2568A>G (p.Leu856=)
c.2004A>G (p.Leu668=)
c.937A>G
c.1804A>G
c.2763A>G (p.Leu921=)
c.2520A>G (p.Leu840=)
gnomAD v4
19g.7462267A>TCA505219018ARHGEF18c.1530A>T (p.Leu510=)
c.1842A>T (p.Leu614=)
c.2568A>T (p.Leu856=)
c.2004A>T (p.Leu668=)
c.937A>T
c.1804A>T
c.2763A>T (p.Leu921=)
c.2520A>T (p.Leu840=)
19g.7462268T>ACA9136904ARHGEF18c.1531T>A (p.Phe511Ile)
c.1843T>A (p.Phe615Ile)
c.2569T>A (p.Phe857Ile)
c.2005T>A (p.Phe669Ile)
c.938T>A
c.1805T>A
c.2764T>A (p.Phe922Ile)
c.2521T>A (p.Phe841Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7462268T>CCA403081217ARHGEF18c.1531T>C (p.Phe511Leu)
c.1843T>C (p.Phe615Leu)
c.2569T>C (p.Phe857Leu)
c.2005T>C (p.Phe669Leu)
c.938T>C
c.1805T>C
c.2764T>C (p.Phe922Leu)
c.2521T>C (p.Phe841Leu)
19g.7462268T>GCA403081218ARHGEF18c.1531T>G (p.Phe511Val)
c.1843T>G (p.Phe615Val)
c.2569T>G (p.Phe857Val)
c.2005T>G (p.Phe669Val)
c.938T>G
c.1805T>G
c.2764T>G (p.Phe922Val)
c.2521T>G (p.Phe841Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7462268T=CA2320929824ARHGEF18c.1531T= (p.Phe511=)
c.1843T= (p.Phe615=)
c.2569T= (p.Phe857=)
c.2005T= (p.Phe669=)
c.938T=
c.1805T=
c.2764T= (p.Phe922=)
c.2521T= (p.Phe841=)
19g.7462269T>ACA403081220ARHGEF18c.1532T>A (p.Phe511Tyr)
c.1844T>A (p.Phe615Tyr)
c.2570T>A (p.Phe857Tyr)
c.2006T>A (p.Phe669Tyr)
c.939T>A
c.1806T>A
c.2765T>A (p.Phe922Tyr)
c.2522T>A (p.Phe841Tyr)
19g.7462269T>CCA403081222ARHGEF18c.1532T>C (p.Phe511Ser)
c.1844T>C (p.Phe615Ser)
c.2570T>C (p.Phe857Ser)
c.2006T>C (p.Phe669Ser)
c.939T>C
c.1806T>C
c.2765T>C (p.Phe922Ser)
c.2522T>C (p.Phe841Ser)
19g.7462269T>GCA403081224ARHGEF18c.1532T>G (p.Phe511Cys)
c.1844T>G (p.Phe615Cys)
c.2570T>G (p.Phe857Cys)
c.2006T>G (p.Phe669Cys)
c.939T>G
c.1806T>G
c.2765T>G (p.Phe922Cys)
c.2522T>G (p.Phe841Cys)
19g.7462270C>ACA403081228ARHGEF18c.1533C>A (p.Phe511Leu)
c.1845C>A (p.Phe615Leu)
c.2571C>A (p.Phe857Leu)
c.2007C>A (p.Phe669Leu)
c.940C>A
c.1807C>A
c.2766C>A (p.Phe922Leu)
c.2523C>A (p.Phe841Leu)
dbSNP gnomAD v2
19g.7462270C=CA2320929825ARHGEF18c.1533C= (p.Phe511=)
c.1845C= (p.Phe615=)
c.2571C= (p.Phe857=)
c.2007C= (p.Phe669=)
c.940C=
c.1807C=
c.2766C= (p.Phe922=)
c.2523C= (p.Phe841=)
19g.7462270C>GCA403081230ARHGEF18c.1533C>G (p.Phe511Leu)
c.1845C>G (p.Phe615Leu)
c.2571C>G (p.Phe857Leu)
c.2007C>G (p.Phe669Leu)
c.940C>G
c.1807C>G
c.2766C>G (p.Phe922Leu)
c.2523C>G (p.Phe841Leu)
19g.7462270C>TCA505219020ARHGEF18c.1533C>T (p.Phe511=)
c.1845C>T (p.Phe615=)
c.2571C>T (p.Phe857=)
c.2007C>T (p.Phe669=)
c.940C>T
c.1807C>T
c.2766C>T (p.Phe922=)
c.2523C>T (p.Phe841=)
COSMIC COSMIC
19g.7462271C>ACA403081233ARHGEF18c.1534C>A (p.Arg512Ser)
c.1846C>A (p.Arg616Ser)
c.2572C>A (p.Arg858Ser)
c.2008C>A (p.Arg670Ser)
c.941C>A
c.1808C>A
c.2767C>A (p.Arg923Ser)
c.2524C>A (p.Arg842Ser)
gnomAD v4
19g.7462271C=CA2320929826ARHGEF18c.1534C= (p.Arg512=)
c.1846C= (p.Arg616=)
c.2572C= (p.Arg858=)
c.2008C= (p.Arg670=)
c.941C=
c.1808C=
c.2767C= (p.Arg923=)
c.2524C= (p.Arg842=)
19g.7462271C>GCA403081240ARHGEF18c.1534C>G (p.Arg512Gly)
c.1846C>G (p.Arg616Gly)
c.2572C>G (p.Arg858Gly)
c.2008C>G (p.Arg670Gly)
c.941C>G
c.1808C>G
c.2767C>G (p.Arg923Gly)
c.2524C>G (p.Arg842Gly)
19g.7462271C>TCA9136905ARHGEF18c.1534C>T (p.Arg512Cys)
c.1846C>T (p.Arg616Cys)
c.2572C>T (p.Arg858Cys)
c.2008C>T (p.Arg670Cys)
c.941C>T
c.1808C>T
c.2767C>T (p.Arg923Cys)
c.2524C>T (p.Arg842Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7462272G>ACA9136906ARHGEF18c.1535G>A (p.Arg512His)
c.1847G>A (p.Arg616His)
c.2573G>A (p.Arg858His)
c.2009G>A (p.Arg670His)
c.942G>A
c.1809G>A
c.2768G>A (p.Arg923His)
c.2525G>A (p.Arg842His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7462272G>CCA403081241ARHGEF18c.1535G>C (p.Arg512Pro)
c.1847G>C (p.Arg616Pro)
c.2573G>C (p.Arg858Pro)
c.2009G>C (p.Arg670Pro)
c.942G>C
c.1809G>C
c.2768G>C (p.Arg923Pro)
c.2525G>C (p.Arg842Pro)
19g.7462272G=CA2320929827ARHGEF18c.1535G= (p.Arg512=)
c.1847G= (p.Arg616=)
c.2573G= (p.Arg858=)
c.2009G= (p.Arg670=)
c.942G=
c.1809G=
c.2768G= (p.Arg923=)
c.2525G= (p.Arg842=)
19g.7462272G>TCA403081242ARHGEF18c.1535G>T (p.Arg512Leu)
c.1847G>T (p.Arg616Leu)
c.2573G>T (p.Arg858Leu)
c.2009G>T (p.Arg670Leu)
c.942G>T
c.1809G>T
c.2768G>T (p.Arg923Leu)
c.2525G>T (p.Arg842Leu)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.7462273T>ACA505219021ARHGEF18c.1536T>A (p.Arg512=)
c.1848T>A (p.Arg616=)
c.2574T>A (p.Arg858=)
c.2010T>A (p.Arg670=)
c.943T>A
c.1810T>A
c.2769T>A (p.Arg923=)
c.2526T>A (p.Arg842=)
19g.7462273T>CCA505219022ARHGEF18c.1536T>C (p.Arg512=)
c.1848T>C (p.Arg616=)
c.2574T>C (p.Arg858=)
c.2010T>C (p.Arg670=)
c.943T>C
c.1810T>C
c.2769T>C (p.Arg923=)
c.2526T>C (p.Arg842=)
19g.7462273T>GCA505219023ARHGEF18c.1536T>G (p.Arg512=)
c.1848T>G (p.Arg616=)
c.2574T>G (p.Arg858=)
c.2010T>G (p.Arg670=)
c.943T>G
c.1810T>G
c.2769T>G (p.Arg923=)
c.2526T>G (p.Arg842=)
19g.7462274G>ACA403081244ARHGEF18c.1537G>A (p.Gly513Arg)
c.1849G>A (p.Gly617Arg)
c.2575G>A (p.Gly859Arg)
c.2011G>A (p.Gly671Arg)
c.944G>A
c.1811G>A
c.2770G>A (p.Gly924Arg)
c.2527G>A (p.Gly843Arg)
19g.7462274G>CCA403081245ARHGEF18c.1537G>C (p.Gly513Arg)
c.1849G>C (p.Gly617Arg)
c.2575G>C (p.Gly859Arg)
c.2011G>C (p.Gly671Arg)
c.944G>C
c.1811G>C
c.2770G>C (p.Gly924Arg)
c.2527G>C (p.Gly843Arg)
19g.7462274G>TCA403081246ARHGEF18c.1537G>T (p.Gly513Ter)
c.1849G>T (p.Gly617Ter)
c.2575G>T (p.Gly859Ter)
c.2011G>T (p.Gly671Ter)
c.944G>T
c.1811G>T
c.2770G>T (p.Gly924Ter)
c.2527G>T (p.Gly843Ter)
19g.7462275G>ACA403081248ARHGEF18c.1538G>A (p.Gly513Glu)
c.1850G>A (p.Gly617Glu)
c.2576G>A (p.Gly859Glu)
c.2012G>A (p.Gly671Glu)
c.945G>A
c.1812G>A
c.2771G>A (p.Gly924Glu)
c.2528G>A (p.Gly843Glu)
19g.7462275G>CCA304853793ARHGEF18c.1538G>C (p.Gly513Ala)
c.1850G>C (p.Gly617Ala)
c.2576G>C (p.Gly859Ala)
c.2012G>C (p.Gly671Ala)
c.945G>C
c.1812G>C
c.2771G>C (p.Gly924Ala)
c.2528G>C (p.Gly843Ala)
dbSNP
19g.7462275G=CA2320929828ARHGEF18c.1538G= (p.Gly513=)
c.1850G= (p.Gly617=)
c.2576G= (p.Gly859=)
c.2012G= (p.Gly671=)
c.945G=
c.1812G=
c.2771G= (p.Gly924=)
c.2528G= (p.Gly843=)
19g.7462275G>TCA403081249ARHGEF18c.1538G>T (p.Gly513Val)
c.1850G>T (p.Gly617Val)
c.2576G>T (p.Gly859Val)
c.2012G>T (p.Gly671Val)
c.945G>T
c.1812G>T
c.2771G>T (p.Gly924Val)
c.2528G>T (p.Gly843Val)
19g.7462276A>CCA505219024ARHGEF18c.1539A>C (p.Gly513=)
c.1851A>C (p.Gly617=)
c.2577A>C (p.Gly859=)
c.2013A>C (p.Gly671=)
c.946A>C
c.1813A>C
c.2772A>C (p.Gly924=)
c.2529A>C (p.Gly843=)
19g.7462276A>GCA505219025ARHGEF18c.1539A>G (p.Gly513=)
c.1851A>G (p.Gly617=)
c.2577A>G (p.Gly859=)
c.2013A>G (p.Gly671=)
c.946A>G
c.1813A>G
c.2772A>G (p.Gly924=)
c.2529A>G (p.Gly843=)
19g.7462276A>TCA505219026ARHGEF18c.1539A>T (p.Gly513=)
c.1851A>T (p.Gly617=)
c.2577A>T (p.Gly859=)
c.2013A>T (p.Gly671=)
c.946A>T
c.1813A>T
c.2772A>T (p.Gly924=)
c.2529A>T (p.Gly843=)
19g.7462277G>ACA403081250ARHGEF18c.1540G>A (p.Gly514Arg)
c.1852G>A (p.Gly618Arg)
c.2578G>A (p.Gly860Arg)
c.2014G>A (p.Gly672Arg)
c.947G>A
c.1814G>A
c.2773G>A (p.Gly925Arg)
c.2530G>A (p.Gly844Arg)
19g.7462277G>CCA403081251ARHGEF18c.1540G>C (p.Gly514Arg)
c.1852G>C (p.Gly618Arg)
c.2578G>C (p.Gly860Arg)
c.2014G>C (p.Gly672Arg)
c.947G>C
c.1814G>C
c.2773G>C (p.Gly925Arg)
c.2530G>C (p.Gly844Arg)
19g.7462277G>TCA403081258ARHGEF18c.1540G>T (p.Gly514Trp)
c.1852G>T (p.Gly618Trp)
c.2578G>T (p.Gly860Trp)
c.2014G>T (p.Gly672Trp)
c.947G>T
c.1814G>T
c.2773G>T (p.Gly925Trp)
c.2530G>T (p.Gly844Trp)
19g.7462278G>ACA304853803ARHGEF18c.1541G>A (p.Gly514Glu)
c.1853G>A (p.Gly618Glu)
c.2579G>A (p.Gly860Glu)
c.2015G>A (p.Gly672Glu)
c.948G>A
c.1815G>A
c.2774G>A (p.Gly925Glu)
c.2531G>A (p.Gly844Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7462278G>CCA403081260ARHGEF18c.1541G>C (p.Gly514Ala)
c.1853G>C (p.Gly618Ala)
c.2579G>C (p.Gly860Ala)
c.2015G>C (p.Gly672Ala)
c.948G>C
c.1815G>C
c.2774G>C (p.Gly925Ala)
c.2531G>C (p.Gly844Ala)
19g.7462278G=CA2320929829ARHGEF18c.1541G= (p.Gly514=)
c.1853G= (p.Gly618=)
c.2579G= (p.Gly860=)
c.2015G= (p.Gly672=)
c.948G=
c.1815G=
c.2774G= (p.Gly925=)
c.2531G= (p.Gly844=)
19g.7462278G>TCA403081262ARHGEF18c.1541G>T (p.Gly514Val)
c.1853G>T (p.Gly618Val)
c.2579G>T (p.Gly860Val)
c.2015G>T (p.Gly672Val)
c.948G>T
c.1815G>T
c.2774G>T (p.Gly925Val)
c.2531G>T (p.Gly844Val)
19g.7462279G>ACA505219029ARHGEF18c.1542G>A (p.Gly514=)
c.1854G>A (p.Gly618=)
c.2580G>A (p.Gly860=)
c.2016G>A (p.Gly672=)
c.949G>A
c.1816G>A
c.2775G>A (p.Gly925=)
c.2532G>A (p.Gly844=)
gnomAD v4
19g.7462279G>CCA505219027ARHGEF18c.1542G>C (p.Gly514=)
c.1854G>C (p.Gly618=)
c.2580G>C (p.Gly860=)
c.2016G>C (p.Gly672=)
c.949G>C
c.1816G>C
c.2775G>C (p.Gly925=)
c.2532G>C (p.Gly844=)
19g.7462279G>TCA505219028ARHGEF18c.1542G>T (p.Gly514=)
c.1854G>T (p.Gly618=)
c.2580G>T (p.Gly860=)
c.2016G>T (p.Gly672=)
c.949G>T
c.1816G>T
c.2775G>T (p.Gly925=)
c.2532G>T (p.Gly844=)
dbSNP
19g.7462280G>ACA9136907ARHGEF18c.1543G>A (p.Asp515Asn)
c.1855G>A (p.Asp619Asn)
c.2581G>A (p.Asp861Asn)
c.2017G>A (p.Asp673Asn)
c.950G>A
c.1817G>A
c.2776G>A (p.Asp926Asn)
c.2533G>A (p.Asp845Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.7462280G>CCA403081268ARHGEF18c.1543G>C (p.Asp515His)
c.1855G>C (p.Asp619His)
c.2581G>C (p.Asp861His)
c.2017G>C (p.Asp673His)
c.950G>C
c.1817G>C
c.2776G>C (p.Asp926His)
c.2533G>C (p.Asp845His)
19g.7462280G=CA2320929830ARHGEF18c.1543G= (p.Asp515=)
c.1855G= (p.Asp619=)
c.2581G= (p.Asp861=)
c.2017G= (p.Asp673=)
c.950G=
c.1817G=
c.2776G= (p.Asp926=)
c.2533G= (p.Asp845=)
19g.7462280G>TCA304853810ARHGEF18c.1543G>T (p.Asp515Tyr)
c.1855G>T (p.Asp619Tyr)
c.2581G>T (p.Asp861Tyr)
c.2017G>T (p.Asp673Tyr)
c.950G>T
c.1817G>T
c.2776G>T (p.Asp926Tyr)
c.2533G>T (p.Asp845Tyr)
dbSNP
19g.7462281A>CCA403081272ARHGEF18c.1544A>C (p.Asp515Ala)
c.1856A>C (p.Asp619Ala)
c.2582A>C (p.Asp861Ala)
c.2018A>C (p.Asp673Ala)
c.951A>C
c.1818A>C
c.2777A>C (p.Asp926Ala)
c.2534A>C (p.Asp845Ala)
19g.7462281A>GCA403081277ARHGEF18c.1544A>G (p.Asp515Gly)
c.1856A>G (p.Asp619Gly)
c.2582A>G (p.Asp861Gly)
c.2018A>G (p.Asp673Gly)
c.951A>G
c.1818A>G
c.2777A>G (p.Asp926Gly)
c.2534A>G (p.Asp845Gly)
19g.7462281A>TCA403081278ARHGEF18c.1544A>T (p.Asp515Val)
c.1856A>T (p.Asp619Val)
c.2582A>T (p.Asp861Val)
c.2018A>T (p.Asp673Val)
c.951A>T
c.1818A>T
c.2777A>T (p.Asp926Val)
c.2534A>T (p.Asp845Val)
19g.7462282C>ACA403081282ARHGEF18c.1545C>A (p.Asp515Glu)
c.1857C>A (p.Asp619Glu)
c.2583C>A (p.Asp861Glu)
c.2019C>A (p.Asp673Glu)
c.952C>A
c.1819C>A
c.2778C>A (p.Asp926Glu)
c.2535C>A (p.Asp845Glu)
19g.7462282C=CA2320929831ARHGEF18c.1545C= (p.Asp515=)
c.1857C= (p.Asp619=)
c.2583C= (p.Asp861=)
c.2019C= (p.Asp673=)
c.952C=
c.1819C=
c.2778C= (p.Asp926=)
c.2535C= (p.Asp845=)
19g.7462282C>GCA403081284ARHGEF18c.1545C>G (p.Asp515Glu)
c.1857C>G (p.Asp619Glu)
c.2583C>G (p.Asp861Glu)
c.2019C>G (p.Asp673Glu)
c.952C>G
c.1819C>G
c.2778C>G (p.Asp926Glu)
c.2535C>G (p.Asp845Glu)
dbSNP gnomAD v3 gnomAD v4
19g.7462282C>TCA505219030ARHGEF18c.1545C>T (p.Asp515=)
c.1857C>T (p.Asp619=)
c.2583C>T (p.Asp861=)
c.2019C>T (p.Asp673=)
c.952C>T
c.1819C>T
c.2778C>T (p.Asp926=)
c.2535C>T (p.Asp845=)
19g.7462283C>ACA403081286ARHGEF18c.1546C>A (p.Pro516Thr)
c.1858C>A (p.Pro620Thr)
c.2584C>A (p.Pro862Thr)
c.2020C>A (p.Pro674Thr)
c.953C>A
c.1820C>A
c.2779C>A (p.Pro927Thr)
c.2536C>A (p.Pro846Thr)
19g.7462283C>GCA403081288ARHGEF18c.1546C>G (p.Pro516Ala)
c.1858C>G (p.Pro620Ala)
c.2584C>G (p.Pro862Ala)
c.2020C>G (p.Pro674Ala)
c.953C>G
c.1820C>G
c.2779C>G (p.Pro927Ala)
c.2536C>G (p.Pro846Ala)
19g.7462283C>TCA403081290ARHGEF18c.1546C>T (p.Pro516Ser)
c.1858C>T (p.Pro620Ser)
c.2584C>T (p.Pro862Ser)
c.2020C>T (p.Pro674Ser)
c.953C>T
c.1820C>T
c.2779C>T (p.Pro927Ser)
c.2536C>T (p.Pro846Ser)
19g.7462284C>ACA403081300ARHGEF18c.1547C>A (p.Pro516Gln)
c.1859C>A (p.Pro620Gln)
c.2585C>A (p.Pro862Gln)
c.2021C>A (p.Pro674Gln)
c.954C>A
c.1821C>A
c.2780C>A (p.Pro927Gln)
c.2537C>A (p.Pro846Gln)
19g.7462284C>GCA403081298ARHGEF18c.1547C>G (p.Pro516Arg)
c.1859C>G (p.Pro620Arg)
c.2585C>G (p.Pro862Arg)
c.2021C>G (p.Pro674Arg)
c.954C>G
c.1821C>G
c.2780C>G (p.Pro927Arg)
c.2537C>G (p.Pro846Arg)
19g.7462284C>TCA403081297ARHGEF18c.1547C>T (p.Pro516Leu)
c.1859C>T (p.Pro620Leu)
c.2585C>T (p.Pro862Leu)
c.2021C>T (p.Pro674Leu)
c.954C>T
c.1821C>T
c.2780C>T (p.Pro927Leu)
c.2537C>T (p.Pro846Leu)
19g.7462285A=CA2320929832ARHGEF18c.1548A= (p.Pro516=)
c.1860A= (p.Pro620=)
c.2586A= (p.Pro862=)
c.2022A= (p.Pro674=)
c.955A=
c.1822A=
c.2781A= (p.Pro927=)
c.2538A= (p.Pro846=)
19g.7462285A>CCA505219032ARHGEF18c.1548A>C (p.Pro516=)
c.1860A>C (p.Pro620=)
c.2586A>C (p.Pro862=)
c.2022A>C (p.Pro674=)
c.955A>C
c.1822A>C
c.2781A>C (p.Pro927=)
c.2538A>C (p.Pro846=)
19g.7462285A>GCA505219031ARHGEF18c.1548A>G (p.Pro516=)
c.1860A>G (p.Pro620=)
c.2586A>G (p.Pro862=)
c.2022A>G (p.Pro674=)
c.955A>G
c.1822A>G
c.2781A>G (p.Pro927=)
c.2538A>G (p.Pro846=)
dbSNP
19g.7462285A>TCA505219033ARHGEF18c.1548A>T (p.Pro516=)
c.1860A>T (p.Pro620=)
c.2586A>T (p.Pro862=)
c.2022A>T (p.Pro674=)
c.955A>T
c.1822A>T
c.2781A>T (p.Pro927=)
c.2538A>T (p.Pro846=)
19g.7462286T>ACA403081304ARHGEF18c.1549T>A (p.Ser517Thr)
c.1861T>A (p.Ser621Thr)
c.2587T>A (p.Ser863Thr)
c.2023T>A (p.Ser675Thr)
c.956T>A
c.1823T>A
c.2782T>A (p.Ser928Thr)
c.2539T>A (p.Ser847Thr)
19g.7462286T>CCA403081301ARHGEF18c.1549T>C (p.Ser517Pro)
c.1861T>C (p.Ser621Pro)
c.2587T>C (p.Ser863Pro)
c.2023T>C (p.Ser675Pro)
c.956T>C
c.1823T>C
c.2782T>C (p.Ser928Pro)
c.2539T>C (p.Ser847Pro)
gnomAD v4
19g.7462286T>GCA403081302ARHGEF18c.1549T>G (p.Ser517Ala)
c.1861T>G (p.Ser621Ala)
c.2587T>G (p.Ser863Ala)
c.2023T>G (p.Ser675Ala)
c.956T>G
c.1823T>G
c.2782T>G (p.Ser928Ala)
c.2539T>G (p.Ser847Ala)
19g.7462286_7462293delinsTCCGAGACCA2320929833ARHGEF18c.1549_1556delinsTCCGAGAC (p.Ser517=)
c.1861_1868delinsTCCGAGAC (p.Ser621=)
c.2587_2594delinsTCCGAGAC (p.Ser863=)
c.2023_2030delinsTCCGAGAC (p.Ser675=)
c.956_963delinsTCCGAGAC
c.1823_1830delinsTCCGAGAC
c.2782_2789delinsTCCGAGAC (p.Ser928=)
c.2539_2546delinsTCCGAGAC (p.Ser847=)
19g.7462287C>ACA403081305ARHGEF18c.1550C>A (p.Ser517Tyr)
c.1862C>A (p.Ser621Tyr)
c.2588C>A (p.Ser863Tyr)
c.2024C>A (p.Ser675Tyr)
c.957C>A
c.1824C>A
c.2783C>A (p.Ser928Tyr)
c.2540C>A (p.Ser847Tyr)
19g.7462287C=CA2320929834ARHGEF18c.1550C= (p.Ser517=)
c.1862C= (p.Ser621=)
c.2588C= (p.Ser863=)
c.2024C= (p.Ser675=)
c.957C=
c.1824C=
c.2783C= (p.Ser928=)
c.2540C= (p.Ser847=)
19g.7462287C>GCA403081306ARHGEF18c.1550C>G (p.Ser517Cys)
c.1862C>G (p.Ser621Cys)
c.2588C>G (p.Ser863Cys)
c.2024C>G (p.Ser675Cys)
c.957C>G
c.1824C>G
c.2783C>G (p.Ser928Cys)
c.2540C>G (p.Ser847Cys)
gnomAD v4
19g.7462287C>TCA403081308ARHGEF18c.1550C>T (p.Ser517Phe)
c.1862C>T (p.Ser621Phe)
c.2588C>T (p.Ser863Phe)
c.2024C>T (p.Ser675Phe)
c.957C>T
c.1824C>T
c.2783C>T (p.Ser928Phe)
c.2540C>T (p.Ser847Phe)
dbSNP gnomAD v2
19g.7462289_7462295delCA2320929835ARHGEF18c.1552_1558del (p.Glu518CysfsTer5)
c.1864_1870del (p.Glu622CysfsTer5)
c.2590_2596del (p.Glu864CysfsTer5)
c.2026_2032del (p.Glu676CysfsTer5)
c.959_965del
c.1826_1832del
c.2785_2791del (p.Glu929CysfsTer5)
c.2542_2548del (p.Glu848CysfsTer5)
dbSNP
19g.7462288C>ACA505219035ARHGEF18c.1551C>A (p.Ser517=)
c.1863C>A (p.Ser621=)
c.2589C>A (p.Ser863=)
c.2025C>A (p.Ser675=)
c.958C>A
c.1825C>A
c.2784C>A (p.Ser928=)
c.2541C>A (p.Ser847=)
19g.7462288C=CA2320929836ARHGEF18c.1551C= (p.Ser517=)
c.1863C= (p.Ser621=)
c.2589C= (p.Ser863=)
c.2025C= (p.Ser675=)
c.958C=
c.1825C=
c.2784C= (p.Ser928=)
c.2541C= (p.Ser847=)
19g.7462288C>GCA505219034ARHGEF18c.1551C>G (p.Ser517=)
c.1863C>G (p.Ser621=)
c.2589C>G (p.Ser863=)
c.2025C>G (p.Ser675=)
c.958C>G
c.1825C>G
c.2784C>G (p.Ser928=)
c.2541C>G (p.Ser847=)
19g.7462288C>TCA9136908ARHGEF18c.1551C>T (p.Ser517=)
c.1863C>T (p.Ser621=)
c.2589C>T (p.Ser863=)
c.2025C>T (p.Ser675=)
c.958C>T
c.1825C>T
c.2784C>T (p.Ser928=)
c.2541C>T (p.Ser847=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7462289G>ACA403081312ARHGEF18c.1552G>A (p.Glu518Lys)
c.1864G>A (p.Glu622Lys)
c.2590G>A (p.Glu864Lys)
c.2026G>A (p.Glu676Lys)
c.959G>A
c.1826G>A
c.2785G>A (p.Glu929Lys)
c.2542G>A (p.Glu848Lys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.7462289G>CCA403081309ARHGEF18c.1552G>C (p.Glu518Gln)
c.1864G>C (p.Glu622Gln)
c.2590G>C (p.Glu864Gln)
c.2026G>C (p.Glu676Gln)
c.959G>C
c.1826G>C
c.2785G>C (p.Glu929Gln)
c.2542G>C (p.Glu848Gln)
19g.7462289G=CA2320929837ARHGEF18c.1552G= (p.Glu518=)
c.1864G= (p.Glu622=)
c.2590G= (p.Glu864=)
c.2026G= (p.Glu676=)
c.959G=
c.1826G=
c.2785G= (p.Glu929=)
c.2542G= (p.Glu848=)
19g.7462289G>TCA403081311ARHGEF18c.1552G>T (p.Glu518Ter)
c.1864G>T (p.Glu622Ter)
c.2590G>T (p.Glu864Ter)
c.2026G>T (p.Glu676Ter)
c.959G>T
c.1826G>T
c.2785G>T (p.Glu929Ter)
c.2542G>T (p.Glu848Ter)
19g.7462289_7462292delCA2576596092ARHGEF18c.1552_1555del (p.Glu518ProfsTer6)
c.1864_1867del (p.Glu622ProfsTer6)
c.2590_2593del (p.Glu864ProfsTer6)
c.2026_2029del (p.Glu676ProfsTer6)
c.959_962del
c.1826_1829del
c.2785_2788del (p.Glu929ProfsTer6)
c.2542_2545del (p.Glu848ProfsTer6)
19g.7462290A>CCA403081314ARHGEF18c.1553A>C (p.Glu518Ala)
c.1865A>C (p.Glu622Ala)
c.2591A>C (p.Glu864Ala)
c.2027A>C (p.Glu676Ala)
c.960A>C
c.1827A>C
c.2786A>C (p.Glu929Ala)
c.2543A>C (p.Glu848Ala)
19g.7462290A>GCA403081316ARHGEF18c.1553A>G (p.Glu518Gly)
c.1865A>G (p.Glu622Gly)
c.2591A>G (p.Glu864Gly)
c.2027A>G (p.Glu676Gly)
c.960A>G
c.1827A>G
c.2786A>G (p.Glu929Gly)
c.2543A>G (p.Glu848Gly)
19g.7462290A>TCA403081319ARHGEF18c.1553A>T (p.Glu518Val)
c.1865A>T (p.Glu622Val)
c.2591A>T (p.Glu864Val)
c.2027A>T (p.Glu676Val)
c.960A>T
c.1827A>T
c.2786A>T (p.Glu929Val)
c.2543A>T (p.Glu848Val)
19g.7462291G>ACA505219036ARHGEF18c.1554G>A (p.Glu518=)
c.1866G>A (p.Glu622=)
c.2592G>A (p.Glu864=)
c.2028G>A (p.Glu676=)
c.961G>A
c.1828G>A
c.2787G>A (p.Glu929=)
c.2544G>A (p.Glu848=)
19g.7462291G>CCA403081320ARHGEF18c.1554G>C (p.Glu518Asp)
c.1866G>C (p.Glu622Asp)
c.2592G>C (p.Glu864Asp)
c.2028G>C (p.Glu676Asp)
c.961G>C
c.1828G>C
c.2787G>C (p.Glu929Asp)
c.2544G>C (p.Glu848Asp)
19g.7462291G>TCA403081322ARHGEF18c.1554G>T (p.Glu518Asp)
c.1866G>T (p.Glu622Asp)
c.2592G>T (p.Glu864Asp)
c.2028G>T (p.Glu676Asp)
c.961G>T
c.1828G>T
c.2787G>T (p.Glu929Asp)
c.2544G>T (p.Glu848Asp)
19g.7462292A=CA2320929838ARHGEF18c.1555A= (p.Thr519=)
c.1867A= (p.Thr623=)
c.2593A= (p.Thr865=)
c.2029A= (p.Thr677=)
c.962A=
c.1829A=
c.2788A= (p.Thr930=)
c.2545A= (p.Thr849=)
19g.7462292A>CCA403081325ARHGEF18c.1555A>C (p.Thr519Pro)
c.1867A>C (p.Thr623Pro)
c.2593A>C (p.Thr865Pro)
c.2029A>C (p.Thr677Pro)
c.962A>C
c.1829A>C
c.2788A>C (p.Thr930Pro)
c.2545A>C (p.Thr849Pro)
19g.7462292A>GCA9136909ARHGEF18c.1555A>G (p.Thr519Ala)
c.1867A>G (p.Thr623Ala)
c.2593A>G (p.Thr865Ala)
c.2029A>G (p.Thr677Ala)
c.962A>G
c.1829A>G
c.2788A>G (p.Thr930Ala)
c.2545A>G (p.Thr849Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7462292A>TCA403081326ARHGEF18c.1555A>T (p.Thr519Ser)
c.1867A>T (p.Thr623Ser)
c.2593A>T (p.Thr865Ser)
c.2029A>T (p.Thr677Ser)
c.962A>T
c.1829A>T
c.2788A>T (p.Thr930Ser)
c.2545A>T (p.Thr849Ser)
19g.7462293C>ACA403081328ARHGEF18c.1556C>A (p.Thr519Asn)
c.1868C>A (p.Thr623Asn)
c.2594C>A (p.Thr865Asn)
c.2030C>A (p.Thr677Asn)
c.963C>A
c.1830C>A
c.2789C>A (p.Thr930Asn)
c.2546C>A (p.Thr849Asn)
COSMIC COSMIC
19g.7462293C>GCA403081330ARHGEF18c.1556C>G (p.Thr519Ser)
c.1868C>G (p.Thr623Ser)
c.2594C>G (p.Thr865Ser)
c.2030C>G (p.Thr677Ser)
c.963C>G
c.1830C>G
c.2789C>G (p.Thr930Ser)
c.2546C>G (p.Thr849Ser)
19g.7462293C>TCA403081332ARHGEF18c.1556C>T (p.Thr519Ile)
c.1868C>T (p.Thr623Ile)
c.2594C>T (p.Thr865Ile)
c.2030C>T (p.Thr677Ile)
c.963C>T
c.1830C>T
c.2789C>T (p.Thr930Ile)
c.2546C>T (p.Thr849Ile)
19g.7462294C>ACA505219037ARHGEF18c.1557C>A (p.Thr519=)
c.1869C>A (p.Thr623=)
c.2595C>A (p.Thr865=)
c.2031C>A (p.Thr677=)
c.964C>A
c.1831C>A
c.2790C>A (p.Thr930=)
c.2547C>A (p.Thr849=)
gnomAD v4
19g.7462294C>GCA505219038ARHGEF18c.1557C>G (p.Thr519=)
c.1869C>G (p.Thr623=)
c.2595C>G (p.Thr865=)
c.2031C>G (p.Thr677=)
c.964C>G
c.1831C>G
c.2790C>G (p.Thr930=)
c.2547C>G (p.Thr849=)
19g.7462294C>TCA505219039ARHGEF18c.1557C>T (p.Thr519=)
c.1869C>T (p.Thr623=)
c.2595C>T (p.Thr865=)
c.2031C>T (p.Thr677=)
c.964C>T
c.1831C>T
c.2790C>T (p.Thr930=)
c.2547C>T (p.Thr849=)
19g.7462295C>ACA403081334ARHGEF18c.1558C>A (p.Leu520Met)
c.1870C>A (p.Leu624Met)
c.2596C>A (p.Leu866Met)
c.2032C>A (p.Leu678Met)
c.965C>A
c.1832C>A
c.2791C>A (p.Leu931Met)
c.2548C>A (p.Leu850Met)
19g.7462295C>GCA403081335ARHGEF18c.1558C>G (p.Leu520Val)
c.1870C>G (p.Leu624Val)
c.2596C>G (p.Leu866Val)
c.2032C>G (p.Leu678Val)
c.965C>G
c.1832C>G
c.2791C>G (p.Leu931Val)
c.2548C>G (p.Leu850Val)
gnomAD v4
19g.7462295C>TCA505219040ARHGEF18c.1558C>T (p.Leu520=)
c.1870C>T (p.Leu624=)
c.2596C>T (p.Leu866=)
c.2032C>T (p.Leu678=)
c.965C>T
c.1832C>T
c.2791C>T (p.Leu931=)
c.2548C>T (p.Leu850=)
19g.7462295_7462296insCGCA2576596093ARHGEF18c.1558_1559insCG (p.Leu520ProfsTer6)
c.1870_1871insCG (p.Leu624ProfsTer6)
c.2596_2597insCG (p.Leu866ProfsTer6)
c.2032_2033insCG (p.Leu678ProfsTer6)
c.965_966insCG
c.1832_1833insCG
c.2791_2792insCG (p.Leu931ProfsTer6)
c.2548_2549insCG (p.Leu850ProfsTer6)
19g.7462296delCA2587934141ARHGEF18c.1559del (p.Leu520ArgfsTer5)
c.1871del (p.Leu624ArgfsTer5)
c.2597del (p.Leu866ArgfsTer5)
c.2033del (p.Leu678ArgfsTer5)
c.966del
c.1833del
c.2792del (p.Leu931ArgfsTer5)
c.2549del (p.Leu850ArgfsTer5)
gnomAD v4
19g.7462296T>ACA403081337ARHGEF18c.1559T>A (p.Leu520Gln)
c.1871T>A (p.Leu624Gln)
c.2597T>A (p.Leu866Gln)
c.2033T>A (p.Leu678Gln)
c.966T>A
c.1833T>A
c.2792T>A (p.Leu931Gln)
c.2549T>A (p.Leu850Gln)
19g.7462296T>CCA403081339ARHGEF18c.1559T>C (p.Leu520Pro)
c.1871T>C (p.Leu624Pro)
c.2597T>C (p.Leu866Pro)
c.2033T>C (p.Leu678Pro)
c.966T>C
c.1833T>C
c.2792T>C (p.Leu931Pro)
c.2549T>C (p.Leu850Pro)
19g.7462296T>GCA403081340ARHGEF18c.1559T>G (p.Leu520Arg)
c.1871T>G (p.Leu624Arg)
c.2597T>G (p.Leu866Arg)
c.2033T>G (p.Leu678Arg)
c.966T>G
c.1833T>G
c.2792T>G (p.Leu931Arg)
c.2549T>G (p.Leu850Arg)
19g.7462297G>ACA9136910ARHGEF18c.1560G>A (p.Leu520=)
c.1872G>A (p.Leu624=)
c.2598G>A (p.Leu866=)
c.2034G>A (p.Leu678=)
c.967G>A
c.1834G>A
c.2793G>A (p.Leu931=)
c.2550G>A (p.Leu850=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7462297G>CCA505219041ARHGEF18c.1560G>C (p.Leu520=)
c.1872G>C (p.Leu624=)
c.2598G>C (p.Leu866=)
c.2034G>C (p.Leu678=)
c.967G>C
c.1834G>C
c.2793G>C (p.Leu931=)
c.2550G>C (p.Leu850=)
19g.7462297G=CA2320929839ARHGEF18c.1560G= (p.Leu520=)
c.1872G= (p.Leu624=)
c.2598G= (p.Leu866=)
c.2034G= (p.Leu678=)
c.967G=
c.1834G=
c.2793G= (p.Leu931=)
c.2550G= (p.Leu850=)
19g.7462297G>TCA505219042ARHGEF18c.1560G>T (p.Leu520=)
c.1872G>T (p.Leu624=)
c.2598G>T (p.Leu866=)
c.2034G>T (p.Leu678=)
c.967G>T
c.1834G>T
c.2793G>T (p.Leu931=)
c.2550G>T (p.Leu850=)
19g.7462298C>ACA403081344ARHGEF18c.1561C>A (p.Gln521Lys)
c.1873C>A (p.Gln625Lys)
c.2599C>A (p.Gln867Lys)
c.2035C>A (p.Gln679Lys)
c.968C>A
c.1835C>A
c.2794C>A (p.Gln932Lys)
c.2551C>A (p.Gln851Lys)
19g.7462298C>GCA403081346ARHGEF18c.1561C>G (p.Gln521Glu)
c.1873C>G (p.Gln625Glu)
c.2599C>G (p.Gln867Glu)
c.2035C>G (p.Gln679Glu)
c.968C>G
c.1835C>G
c.2794C>G (p.Gln932Glu)
c.2551C>G (p.Gln851Glu)
19g.7462298C>TCA403081348ARHGEF18c.1561C>T (p.Gln521Ter)
c.1873C>T (p.Gln625Ter)
c.2599C>T (p.Gln867Ter)
c.2035C>T (p.Gln679Ter)
c.968C>T
c.1835C>T
c.2794C>T (p.Gln932Ter)
c.2551C>T (p.Gln851Ter)
19g.7462299A=CA2320929840ARHGEF18c.1562A= (p.Gln521=)
c.1874A= (p.Gln625=)
c.2600A= (p.Gln867=)
c.2036A= (p.Gln679=)
c.969A=
c.1836A=
c.2795A= (p.Gln932=)
c.2552A= (p.Gln851=)
19g.7462299A>CCA403081355ARHGEF18c.1562A>C (p.Gln521Pro)
c.1874A>C (p.Gln625Pro)
c.2600A>C (p.Gln867Pro)
c.2036A>C (p.Gln679Pro)
c.969A>C
c.1836A>C
c.2795A>C (p.Gln932Pro)
c.2552A>C (p.Gln851Pro)
19g.7462299A>GCA9136911ARHGEF18c.1562A>G (p.Gln521Arg)
c.1874A>G (p.Gln625Arg)
c.2600A>G (p.Gln867Arg)
c.2036A>G (p.Gln679Arg)
c.969A>G
c.1836A>G
c.2795A>G (p.Gln932Arg)
c.2552A>G (p.Gln851Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7462299A>TCA403081353ARHGEF18c.1562A>T (p.Gln521Leu)
c.1874A>T (p.Gln625Leu)
c.2600A>T (p.Gln867Leu)
c.2036A>T (p.Gln679Leu)
c.969A>T
c.1836A>T
c.2795A>T (p.Gln932Leu)
c.2552A>T (p.Gln851Leu)
19g.7462300G>ACA505219043ARHGEF18c.1563G>A (p.Gln521=)
c.1875G>A (p.Gln625=)
c.2601G>A (p.Gln867=)
c.2037G>A (p.Gln679=)
c.970G>A
c.1837G>A
c.2796G>A (p.Gln932=)
c.2553G>A (p.Gln851=)
19g.7462300G>CCA403081358ARHGEF18c.1563G>C (p.Gln521His)
c.1875G>C (p.Gln625His)
c.2601G>C (p.Gln867His)
c.2037G>C (p.Gln679His)
c.970G>C
c.1837G>C
c.2796G>C (p.Gln932His)
c.2553G>C (p.Gln851His)
19g.7462300G=CA2320929841ARHGEF18c.1563G= (p.Gln521=)
c.1875G= (p.Gln625=)
c.2601G= (p.Gln867=)
c.2037G= (p.Gln679=)
c.970G=
c.1837G=
c.2796G= (p.Gln932=)
c.2553G= (p.Gln851=)
19g.7462300G>TCA403081362ARHGEF18c.1563G>T (p.Gln521His)
c.1875G>T (p.Gln625His)
c.2601G>T (p.Gln867His)
c.2037G>T (p.Gln679His)
c.970G>T
c.1837G>T
c.2796G>T (p.Gln932His)
c.2553G>T (p.Gln851His)
dbSNP
19g.7462301G>ACA403081364ARHGEF18c.1564G>A (p.Gly522Arg)
c.1876G>A (p.Gly626Arg)
c.2602G>A (p.Gly868Arg)
c.2038G>A (p.Gly680Arg)
c.971G>A
c.1838G>A
c.2797G>A (p.Gly933Arg)
c.2554G>A (p.Gly852Arg)
19g.7462301G>CCA403081367ARHGEF18c.1564G>C (p.Gly522Arg)
c.1876G>C (p.Gly626Arg)
c.2602G>C (p.Gly868Arg)
c.2038G>C (p.Gly680Arg)
c.971G>C
c.1838G>C
c.2797G>C (p.Gly933Arg)
c.2554G>C (p.Gly852Arg)
19g.7462301G=CA2320929842ARHGEF18c.1564G= (p.Gly522=)
c.1876G= (p.Gly626=)
c.2602G= (p.Gly868=)
c.2038G= (p.Gly680=)
c.971G=
c.1838G=
c.2797G= (p.Gly933=)
c.2554G= (p.Gly852=)
19g.7462301G>TCA9136912ARHGEF18c.1564G>T (p.Gly522Trp)
c.1876G>T (p.Gly626Trp)
c.2602G>T (p.Gly868Trp)
c.2038G>T (p.Gly680Trp)
c.971G>T
c.1838G>T
c.2797G>T (p.Gly933Trp)
c.2554G>T (p.Gly852Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7462302G>ACA403081369ARHGEF18c.1565G>A (p.Gly522Glu)
c.1877G>A (p.Gly626Glu)
c.2603G>A (p.Gly868Glu)
c.2039G>A (p.Gly680Glu)
c.972G>A
c.1839G>A
c.2798G>A (p.Gly933Glu)
c.2555G>A (p.Gly852Glu)
COSMIC COSMIC
19g.7462302G>CCA403081371ARHGEF18c.1565G>C (p.Gly522Ala)
c.1877G>C (p.Gly626Ala)
c.2603G>C (p.Gly868Ala)
c.2039G>C (p.Gly680Ala)
c.972G>C
c.1839G>C
c.2798G>C (p.Gly933Ala)
c.2555G>C (p.Gly852Ala)
19g.7462302G>TCA403081375ARHGEF18c.1565G>T (p.Gly522Val)
c.1877G>T (p.Gly626Val)
c.2603G>T (p.Gly868Val)
c.2039G>T (p.Gly680Val)
c.972G>T
c.1839G>T
c.2798G>T (p.Gly933Val)
c.2555G>T (p.Gly852Val)
19g.7462303G>ACA505219044ARHGEF18c.1566G>A (p.Gly522=)
c.1878G>A (p.Gly626=)
c.2604G>A (p.Gly868=)
c.2040G>A (p.Gly680=)
c.973G>A
c.1840G>A
c.2799G>A (p.Gly933=)
c.2556G>A (p.Gly852=)
gnomAD v4
19g.7462303G>CCA505219045ARHGEF18c.1566G>C (p.Gly522=)
c.1878G>C (p.Gly626=)
c.2604G>C (p.Gly868=)
c.2040G>C (p.Gly680=)
c.973G>C
c.1840G>C
c.2799G>C (p.Gly933=)
c.2556G>C (p.Gly852=)
19g.7462303G>TCA505219046ARHGEF18c.1566G>T (p.Gly522=)
c.1878G>T (p.Gly626=)
c.2604G>T (p.Gly868=)
c.2040G>T (p.Gly680=)
c.973G>T
c.1840G>T
c.2799G>T (p.Gly933=)
c.2556G>T (p.Gly852=)
19g.7462304G>ACA403081376ARHGEF18c.1567G>A (p.Glu523Lys)
c.1879G>A (p.Glu627Lys)
c.2605G>A (p.Glu869Lys)
c.2041G>A (p.Glu681Lys)
c.974G>A
c.1841G>A
c.2800G>A (p.Glu934Lys)
c.2557G>A (p.Glu853Lys)
19g.7462304G>CCA403081377ARHGEF18c.1567G>C (p.Glu523Gln)
c.1879G>C (p.Glu627Gln)
c.2605G>C (p.Glu869Gln)
c.2041G>C (p.Glu681Gln)
c.974G>C
c.1841G>C
c.2800G>C (p.Glu934Gln)
c.2557G>C (p.Glu853Gln)
19g.7462304G>TCA403081378ARHGEF18c.1567G>T (p.Glu523Ter)
c.1879G>T (p.Glu627Ter)
c.2605G>T (p.Glu869Ter)
c.2041G>T (p.Glu681Ter)
c.974G>T
c.1841G>T
c.2800G>T (p.Glu934Ter)
c.2557G>T (p.Glu853Ter)
gnomAD v4 COSMIC COSMIC
19g.7462305A>CCA403081379ARHGEF18c.1568A>C (p.Glu523Ala)
c.1880A>C (p.Glu627Ala)
c.2606A>C (p.Glu869Ala)
c.2042A>C (p.Glu681Ala)
c.975A>C
c.1842A>C
c.2801A>C (p.Glu934Ala)
c.2558A>C (p.Glu853Ala)
19g.7462305A>GCA403081380ARHGEF18c.1568A>G (p.Glu523Gly)
c.1880A>G (p.Glu627Gly)
c.2606A>G (p.Glu869Gly)
c.2042A>G (p.Glu681Gly)
c.975A>G
c.1842A>G
c.2801A>G (p.Glu934Gly)
c.2558A>G (p.Glu853Gly)
19g.7462305A>TCA403081381ARHGEF18c.1568A>T (p.Glu523Val)
c.1880A>T (p.Glu627Val)
c.2606A>T (p.Glu869Val)
c.2042A>T (p.Glu681Val)
c.975A>T
c.1842A>T
c.2801A>T (p.Glu934Val)
c.2558A>T (p.Glu853Val)
19g.7462306G>ACA9136913ARHGEF18c.1569G>A (p.Glu523=)
c.1881G>A (p.Glu627=)
c.2607G>A (p.Glu869=)
c.2043G>A (p.Glu681=)
c.976G>A
c.1843G>A
c.2802G>A (p.Glu934=)
c.2559G>A (p.Glu853=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.7462306G>CCA403081382ARHGEF18c.1569G>C (p.Glu523Asp)
c.1881G>C (p.Glu627Asp)
c.2607G>C (p.Glu869Asp)
c.2043G>C (p.Glu681Asp)
c.976G>C
c.1843G>C
c.2802G>C (p.Glu934Asp)
c.2559G>C (p.Glu853Asp)
dbSNP
19g.7462306G=CA2320929843ARHGEF18c.1569G= (p.Glu523=)
c.1881G= (p.Glu627=)
c.2607G= (p.Glu869=)
c.2043G= (p.Glu681=)
c.976G=
c.1843G=
c.2802G= (p.Glu934=)
c.2559G= (p.Glu853=)
19g.7462306G>TCA403081384ARHGEF18c.1569G>T (p.Glu523Asp)
c.1881G>T (p.Glu627Asp)
c.2607G>T (p.Glu869Asp)
c.2043G>T (p.Glu681Asp)
c.976G>T
c.1843G>T
c.2802G>T (p.Glu934Asp)
c.2559G>T (p.Glu853Asp)
19g.7462307C>ACA403081387ARHGEF18c.1570C>A (p.Leu524Ile)
c.1882C>A (p.Leu628Ile)
c.2608C>A (p.Leu870Ile)
c.2044C>A (p.Leu682Ile)
c.977C>A
c.1844C>A
c.2803C>A (p.Leu935Ile)
c.2560C>A (p.Leu854Ile)
19g.7462307C=CA2320929844ARHGEF18c.1570C= (p.Leu524=)
c.1882C= (p.Leu628=)
c.2608C= (p.Leu870=)
c.2044C= (p.Leu682=)
c.977C=
c.1844C=
c.2803C= (p.Leu935=)
c.2560C= (p.Leu854=)
19g.7462307C>GCA403081389ARHGEF18c.1570C>G (p.Leu524Val)
c.1882C>G (p.Leu628Val)
c.2608C>G (p.Leu870Val)
c.2044C>G (p.Leu682Val)
c.977C>G
c.1844C>G
c.2803C>G (p.Leu935Val)
c.2560C>G (p.Leu854Val)
dbSNP gnomAD v3 gnomAD v4
19g.7462307C>TCA505219047ARHGEF18c.1570C>T (p.Leu524=)
c.1882C>T (p.Leu628=)
c.2608C>T (p.Leu870=)
c.2044C>T (p.Leu682=)
c.977C>T
c.1844C>T
c.2803C>T (p.Leu935=)
c.2560C>T (p.Leu854=)
19g.7462308T>ACA403081391ARHGEF18c.1571T>A (p.Leu524Gln)
c.1883T>A (p.Leu628Gln)
c.2609T>A (p.Leu870Gln)
c.2045T>A (p.Leu682Gln)
c.978T>A
c.1845T>A
c.2804T>A (p.Leu935Gln)
c.2561T>A (p.Leu854Gln)
gnomAD v4
19g.7462308T>CCA403081392ARHGEF18c.1571T>C (p.Leu524Pro)
c.1883T>C (p.Leu628Pro)
c.2609T>C (p.Leu870Pro)
c.2045T>C (p.Leu682Pro)
c.978T>C
c.1845T>C
c.2804T>C (p.Leu935Pro)
c.2561T>C (p.Leu854Pro)
19g.7462308T>GCA403081394ARHGEF18c.1571T>G (p.Leu524Arg)
c.1883T>G (p.Leu628Arg)
c.2609T>G (p.Leu870Arg)
c.2045T>G (p.Leu682Arg)
c.978T>G
c.1845T>G
c.2804T>G (p.Leu935Arg)
c.2561T>G (p.Leu854Arg)
19g.7462309A=CA2320929845ARHGEF18c.1572A= (p.Leu524=)
c.1884A= (p.Leu628=)
c.2610A= (p.Leu870=)
c.2046A= (p.Leu682=)
c.979A=
c.1846A=
c.2805A= (p.Leu935=)
c.2562A= (p.Leu854=)
19g.7462309A>CCA505219048ARHGEF18c.1572A>C (p.Leu524=)
c.1884A>C (p.Leu628=)
c.2610A>C (p.Leu870=)
c.2046A>C (p.Leu682=)
c.979A>C
c.1846A>C
c.2805A>C (p.Leu935=)
c.2562A>C (p.Leu854=)
19g.7462309A>GCA9136914ARHGEF18c.1572A>G (p.Leu524=)
c.1884A>G (p.Leu628=)
c.2610A>G (p.Leu870=)
c.2046A>G (p.Leu682=)
c.979A>G
c.1846A>G
c.2805A>G (p.Leu935=)
c.2562A>G (p.Leu854=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7462309A>TCA505219049ARHGEF18c.1572A>T (p.Leu524=)
c.1884A>T (p.Leu628=)
c.2610A>T (p.Leu870=)
c.2046A>T (p.Leu682=)
c.979A>T
c.1846A>T
c.2805A>T (p.Leu935=)
c.2562A>T (p.Leu854=)
19g.7462310A>CCA403081397ARHGEF18c.1573A>C (p.Ile525Leu)
c.1885A>C (p.Ile629Leu)
c.2611A>C (p.Ile871Leu)
c.2047A>C (p.Ile683Leu)
c.980A>C
c.1847A>C
c.2806A>C (p.Ile936Leu)
c.2563A>C (p.Ile855Leu)
19g.7462310A>GCA403081399ARHGEF18c.1573A>G (p.Ile525Val)
c.1885A>G (p.Ile629Val)
c.2611A>G (p.Ile871Val)
c.2047A>G (p.Ile683Val)
c.980A>G
c.1847A>G
c.2806A>G (p.Ile936Val)
c.2563A>G (p.Ile855Val)
19g.7462310A>TCA403081408ARHGEF18c.1573A>T (p.Ile525Phe)
c.1885A>T (p.Ile629Phe)
c.2611A>T (p.Ile871Phe)
c.2047A>T (p.Ile683Phe)
c.980A>T
c.1847A>T
c.2806A>T (p.Ile936Phe)
c.2563A>T (p.Ile855Phe)
19g.7462311T>ACA403081410ARHGEF18c.1574T>A (p.Ile525Asn)
c.1886T>A (p.Ile629Asn)
c.2612T>A (p.Ile871Asn)
c.2048T>A (p.Ile683Asn)
c.981T>A
c.1848T>A
c.2807T>A (p.Ile936Asn)
c.2564T>A (p.Ile855Asn)
19g.7462311T>CCA403081412ARHGEF18c.1574T>C (p.Ile525Thr)
c.1886T>C (p.Ile629Thr)
c.2612T>C (p.Ile871Thr)
c.2048T>C (p.Ile683Thr)
c.981T>C
c.1848T>C
c.2807T>C (p.Ile936Thr)
c.2564T>C (p.Ile855Thr)
19g.7462311T>GCA403081414ARHGEF18c.1574T>G (p.Ile525Ser)
c.1886T>G (p.Ile629Ser)
c.2612T>G (p.Ile871Ser)
c.2048T>G (p.Ile683Ser)
c.981T>G
c.1848T>G
c.2807T>G (p.Ile936Ser)
c.2564T>G (p.Ile855Ser)
19g.7462312T>ACA9136915ARHGEF18c.1575T>A (p.Ile525=)
c.1887T>A (p.Ile629=)
c.2613T>A (p.Ile871=)
c.2049T>A (p.Ile683=)
c.982T>A
c.1849T>A
c.2808T>A (p.Ile936=)
c.2565T>A (p.Ile855=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7462312T>CCA505219050ARHGEF18c.1575T>C (p.Ile525=)
c.1887T>C (p.Ile629=)
c.2613T>C (p.Ile871=)
c.2049T>C (p.Ile683=)
c.982T>C
c.1849T>C
c.2808T>C (p.Ile936=)
c.2565T>C (p.Ile855=)
19g.7462312T>GCA403081417ARHGEF18c.1575T>G (p.Ile525Met)
c.1887T>G (p.Ile629Met)
c.2613T>G (p.Ile871Met)
c.2049T>G (p.Ile683Met)
c.982T>G
c.1849T>G
c.2808T>G (p.Ile936Met)
c.2565T>G (p.Ile855Met)
19g.7462312T=CA2320929846ARHGEF18c.1575T= (p.Ile525=)
c.1887T= (p.Ile629=)
c.2613T= (p.Ile871=)
c.2049T= (p.Ile683=)
c.982T=
c.1849T=
c.2808T= (p.Ile936=)
c.2565T= (p.Ile855=)
19g.7462313C>ACA403081418ARHGEF18c.1576C>A (p.Leu526Ile)
c.1888C>A (p.Leu630Ile)
c.2614C>A (p.Leu872Ile)
c.2050C>A (p.Leu684Ile)
c.983C>A
c.1850C>A
c.2809C>A (p.Leu937Ile)
c.2566C>A (p.Leu856Ile)
gnomAD v4
19g.7462313C>GCA403081420ARHGEF18c.1576C>G (p.Leu526Val)
c.1888C>G (p.Leu630Val)
c.2614C>G (p.Leu872Val)
c.2050C>G (p.Leu684Val)
c.983C>G
c.1850C>G
c.2809C>G (p.Leu937Val)
c.2566C>G (p.Leu856Val)
19g.7462313C>TCA403081421ARHGEF18c.1576C>T (p.Leu526Phe)
c.1888C>T (p.Leu630Phe)
c.2614C>T (p.Leu872Phe)
c.2050C>T (p.Leu684Phe)
c.983C>T
c.1850C>T
c.2809C>T (p.Leu937Phe)
c.2566C>T (p.Leu856Phe)
gnomAD v4
19g.7462314T>ACA403081423ARHGEF18c.1577T>A (p.Leu526His)
c.1889T>A (p.Leu630His)
c.2615T>A (p.Leu872His)
c.2051T>A (p.Leu684His)
c.984T>A
c.1851T>A
c.2810T>A (p.Leu937His)
c.2567T>A (p.Leu856His)
19g.7462314T>CCA403081425ARHGEF18c.1577T>C (p.Leu526Pro)
c.1889T>C (p.Leu630Pro)
c.2615T>C (p.Leu872Pro)
c.2051T>C (p.Leu684Pro)
c.984T>C
c.1851T>C
c.2810T>C (p.Leu937Pro)
c.2567T>C (p.Leu856Pro)
19g.7462314T>GCA403081427ARHGEF18c.1577T>G (p.Leu526Arg)
c.1889T>G (p.Leu630Arg)
c.2615T>G (p.Leu872Arg)
c.2051T>G (p.Leu684Arg)
c.984T>G
c.1851T>G
c.2810T>G (p.Leu937Arg)
c.2567T>G (p.Leu856Arg)
COSMIC COSMIC
19g.7462315C>ACA505219051ARHGEF18c.1578C>A (p.Leu526=)
c.1890C>A (p.Leu630=)
c.2616C>A (p.Leu872=)
c.2052C>A (p.Leu684=)
c.985C>A
c.1852C>A
c.2811C>A (p.Leu937=)
c.2568C>A (p.Leu856=)
19g.7462315C>GCA505219052ARHGEF18c.1578C>G (p.Leu526=)
c.1890C>G (p.Leu630=)
c.2616C>G (p.Leu872=)
c.2052C>G (p.Leu684=)
c.985C>G
c.1852C>G
c.2811C>G (p.Leu937=)
c.2568C>G (p.Leu856=)
19g.7462315C>TCA505219053ARHGEF18c.1578C>T (p.Leu526=)
c.1890C>T (p.Leu630=)
c.2616C>T (p.Leu872=)
c.2052C>T (p.Leu684=)
c.985C>T
c.1852C>T
c.2811C>T (p.Leu937=)
c.2568C>T (p.Leu856=)
19g.7462316A>CCA403081433ARHGEF18c.1579A>C (p.Lys527Gln)
c.1891A>C (p.Lys631Gln)
c.2617A>C (p.Lys873Gln)
c.2053A>C (p.Lys685Gln)
c.986A>C
c.1853A>C
c.2812A>C (p.Lys938Gln)
c.2569A>C (p.Lys857Gln)
gnomAD v4
19g.7462316A>GCA403081429ARHGEF18c.1579A>G (p.Lys527Glu)
c.1891A>G (p.Lys631Glu)
c.2617A>G (p.Lys873Glu)
c.2053A>G (p.Lys685Glu)
c.986A>G
c.1853A>G
c.2812A>G (p.Lys938Glu)
c.2569A>G (p.Lys857Glu)
19g.7462316A>TCA403081432ARHGEF18c.1579A>T (p.Lys527Ter)
c.1891A>T (p.Lys631Ter)
c.2617A>T (p.Lys873Ter)
c.2053A>T (p.Lys685Ter)
c.986A>T
c.1853A>T
c.2812A>T (p.Lys938Ter)
c.2569A>T (p.Lys857Ter)
19g.7462317A>CCA403081435ARHGEF18c.1580A>C (p.Lys527Thr)
c.1892A>C (p.Lys631Thr)
c.2618A>C (p.Lys873Thr)
c.2054A>C (p.Lys685Thr)
c.987A>C
c.1854A>C
c.2813A>C (p.Lys938Thr)
c.2570A>C (p.Lys857Thr)
19g.7462317A>GCA403081436ARHGEF18c.1580A>G (p.Lys527Arg)
c.1892A>G (p.Lys631Arg)
c.2618A>G (p.Lys873Arg)
c.2054A>G (p.Lys685Arg)
c.987A>G
c.1854A>G
c.2813A>G (p.Lys938Arg)
c.2570A>G (p.Lys857Arg)
19g.7462317A>TCA403081438ARHGEF18c.1580A>T (p.Lys527Met)
c.1892A>T (p.Lys631Met)
c.2618A>T (p.Lys873Met)
c.2054A>T (p.Lys685Met)
c.987A>T
c.1854A>T
c.2813A>T (p.Lys938Met)
c.2570A>T (p.Lys857Met)
19g.7462318G>ACA505219054ARHGEF18c.1581G>A (p.Lys527=)
c.1893G>A (p.Lys631=)
c.2619G>A (p.Lys873=)
c.2055G>A (p.Lys685=)
c.988G>A
c.1855G>A
c.2814G>A (p.Lys938=)
c.2571G>A (p.Lys857=)
19g.7462318G>CCA403081440ARHGEF18c.1581G>C (p.Lys527Asn)
c.1893G>C (p.Lys631Asn)
c.2619G>C (p.Lys873Asn)
c.2055G>C (p.Lys685Asn)
c.988G>C
c.1855G>C
c.2814G>C (p.Lys938Asn)
c.2571G>C (p.Lys857Asn)
19g.7462318G>TCA403081442ARHGEF18c.1581G>T (p.Lys527Asn)
c.1893G>T (p.Lys631Asn)
c.2619G>T (p.Lys873Asn)
c.2055G>T (p.Lys685Asn)
c.988G>T
c.1855G>T
c.2814G>T (p.Lys938Asn)
c.2571G>T (p.Lys857Asn)
19g.7462319T>ACA403081444ARHGEF18c.1582T>A (p.Ser528Thr)
c.1894T>A (p.Ser632Thr)
c.2620T>A (p.Ser874Thr)
c.2056T>A (p.Ser686Thr)
c.989T>A
c.1856T>A
c.2815T>A (p.Ser939Thr)
c.2572T>A (p.Ser858Thr)
19g.7462319T>CCA403081450ARHGEF18c.1582T>C (p.Ser528Pro)
c.1894T>C (p.Ser632Pro)
c.2620T>C (p.Ser874Pro)
c.2056T>C (p.Ser686Pro)
c.989T>C
c.1856T>C
c.2815T>C (p.Ser939Pro)
c.2572T>C (p.Ser858Pro)
19g.7462319T>GCA403081448ARHGEF18c.1582T>G (p.Ser528Ala)
c.1894T>G (p.Ser632Ala)
c.2620T>G (p.Ser874Ala)
c.2056T>G (p.Ser686Ala)
c.989T>G
c.1856T>G
c.2815T>G (p.Ser939Ala)
c.2572T>G (p.Ser858Ala)
19g.7462320C>ACA403081452ARHGEF18c.1583C>A (p.Ser528Ter)
c.1895C>A (p.Ser632Ter)
c.2621C>A (p.Ser874Ter)
c.2057C>A (p.Ser686Ter)
c.990C>A
c.1857C>A
c.2816C>A (p.Ser939Ter)
c.2573C>A (p.Ser858Ter)
gnomAD v4
19g.7462320C=CA2320929847ARHGEF18c.1583C= (p.Ser528=)
c.1895C= (p.Ser632=)
c.2621C= (p.Ser874=)
c.2057C= (p.Ser686=)
c.990C=
c.1857C=
c.2816C= (p.Ser939=)
c.2573C= (p.Ser858=)
19g.7462320C>GCA403081453ARHGEF18c.1583C>G (p.Ser528Trp)
c.1895C>G (p.Ser632Trp)
c.2621C>G (p.Ser874Trp)
c.2057C>G (p.Ser686Trp)
c.990C>G
c.1857C>G
c.2816C>G (p.Ser939Trp)
c.2573C>G (p.Ser858Trp)
19g.7462320C>TCA304853832ARHGEF18c.1583C>T (p.Ser528Leu)
c.1895C>T (p.Ser632Leu)
c.2621C>T (p.Ser874Leu)
c.2057C>T (p.Ser686Leu)
c.990C>T
c.1857C>T
c.2816C>T (p.Ser939Leu)
c.2573C>T (p.Ser858Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7462321G>ACA9136916ARHGEF18c.1584G>A (p.Ser528=)
c.1896G>A (p.Ser632=)
c.2622G>A (p.Ser874=)
c.2058G>A (p.Ser686=)
c.991G>A
c.1858G>A
c.2817G>A (p.Ser939=)
c.2574G>A (p.Ser858=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.7462321G>CCA505219055ARHGEF18c.1584G>C (p.Ser528=)
c.1896G>C (p.Ser632=)
c.2622G>C (p.Ser874=)
c.2058G>C (p.Ser686=)
c.991G>C
c.1858G>C
c.2817G>C (p.Ser939=)
c.2574G>C (p.Ser858=)
19g.7462321G=CA2320929848ARHGEF18c.1584G= (p.Ser528=)
c.1896G= (p.Ser632=)
c.2622G= (p.Ser874=)
c.2058G= (p.Ser686=)
c.991G=
c.1858G=
c.2817G= (p.Ser939=)
c.2574G= (p.Ser858=)
19g.7462321G>TCA505219056ARHGEF18c.1584G>T (p.Ser528=)
c.1896G>T (p.Ser632=)
c.2622G>T (p.Ser874=)
c.2058G>T (p.Ser686=)
c.991G>T
c.1858G>T
c.2817G>T (p.Ser939=)
c.2574G>T (p.Ser858=)
dbSNP gnomAD v2 gnomAD v4
19g.7462322G>ACA403081456ARHGEF18c.1585G>A (p.Ala529Thr)
c.1897G>A (p.Ala633Thr)
c.2623G>A (p.Ala875Thr)
c.2059G>A (p.Ala687Thr)
c.992G>A
c.1859G>A
c.2818G>A (p.Ala940Thr)
c.2575G>A (p.Ala859Thr)
gnomAD v4
19g.7462322G>CCA403081457ARHGEF18c.1585G>C (p.Ala529Pro)
c.1897G>C (p.Ala633Pro)
c.2623G>C (p.Ala875Pro)
c.2059G>C (p.Ala687Pro)
c.992G>C
c.1859G>C
c.2818G>C (p.Ala940Pro)
c.2575G>C (p.Ala859Pro)
19g.7462322G>TCA403081458ARHGEF18c.1585G>T (p.Ala529Ser)
c.1897G>T (p.Ala633Ser)
c.2623G>T (p.Ala875Ser)
c.2059G>T (p.Ala687Ser)
c.992G>T
c.1859G>T
c.2818G>T (p.Ala940Ser)
c.2575G>T (p.Ala859Ser)
19g.7462323C>ACA403081461ARHGEF18c.1586C>A (p.Ala529Asp)
c.1898C>A (p.Ala633Asp)
c.2624C>A (p.Ala875Asp)
c.2060C>A (p.Ala687Asp)
c.993C>A
c.1860C>A
c.2819C>A (p.Ala940Asp)
c.2576C>A (p.Ala859Asp)
19g.7462323C>GCA403081463ARHGEF18c.1586C>G (p.Ala529Gly)
c.1898C>G (p.Ala633Gly)
c.2624C>G (p.Ala875Gly)
c.2060C>G (p.Ala687Gly)
c.993C>G
c.1860C>G
c.2819C>G (p.Ala940Gly)
c.2576C>G (p.Ala859Gly)
19g.7462323C>TCA403081465ARHGEF18c.1586C>T (p.Ala529Val)
c.1898C>T (p.Ala633Val)
c.2624C>T (p.Ala875Val)
c.2060C>T (p.Ala687Val)
c.993C>T
c.1860C>T
c.2819C>T (p.Ala940Val)
c.2576C>T (p.Ala859Val)
19g.7462324C>ACA505219057ARHGEF18c.1587C>A (p.Ala529=)
c.1899C>A (p.Ala633=)
c.2625C>A (p.Ala875=)
c.2061C>A (p.Ala687=)
c.994C>A
c.1861C>A
c.2820C>A (p.Ala940=)
c.2577C>A (p.Ala859=)
gnomAD v4
19g.7462324C>GCA505219058ARHGEF18c.1587C>G (p.Ala529=)
c.1899C>G (p.Ala633=)
c.2625C>G (p.Ala875=)
c.2061C>G (p.Ala687=)
c.994C>G
c.1861C>G
c.2820C>G (p.Ala940=)
c.2577C>G (p.Ala859=)
19g.7462324C>TCA505219059ARHGEF18c.1587C>T (p.Ala529=)
c.1899C>T (p.Ala633=)
c.2625C>T (p.Ala875=)
c.2061C>T (p.Ala687=)
c.994C>T
c.1861C>T
c.2820C>T (p.Ala940=)
c.2577C>T (p.Ala859=)
19g.7462325A>CCA403081471ARHGEF18c.1588A>C (p.Met530Leu)
c.1900A>C (p.Met634Leu)
c.2626A>C (p.Met876Leu)
c.2062A>C (p.Met688Leu)
c.995A>C
c.1862A>C
c.2821A>C (p.Met941Leu)
c.2578A>C (p.Met860Leu)
ClinVar dbSNP
19g.7462325A>GCA403081469ARHGEF18c.1588A>G (p.Met530Val)
c.1900A>G (p.Met634Val)
c.2626A>G (p.Met876Val)
c.2062A>G (p.Met688Val)
c.995A>G
c.1862A>G
c.2821A>G (p.Met941Val)
c.2578A>G (p.Met860Val)
19g.7462325A>TCA403081467ARHGEF18c.1588A>T (p.Met530Leu)
c.1900A>T (p.Met634Leu)
c.2626A>T (p.Met876Leu)
c.2062A>T (p.Met688Leu)
c.995A>T
c.1862A>T
c.2821A>T (p.Met941Leu)
c.2578A>T (p.Met860Leu)
19g.7462326T>ACA403081473ARHGEF18c.1589T>A (p.Met530Lys)
c.1901T>A (p.Met634Lys)
c.2627T>A (p.Met876Lys)
c.2063T>A (p.Met688Lys)
c.996T>A
c.1863T>A
c.2822T>A (p.Met941Lys)
c.2579T>A (p.Met860Lys)
19g.7462326T>CCA403081477ARHGEF18c.1589T>C (p.Met530Thr)
c.1901T>C (p.Met634Thr)
c.2627T>C (p.Met876Thr)
c.2063T>C (p.Met688Thr)
c.996T>C
c.1863T>C
c.2822T>C (p.Met941Thr)
c.2579T>C (p.Met860Thr)
dbSNP gnomAD v3 gnomAD v4
19g.7462326T>GCA403081475ARHGEF18c.1589T>G (p.Met530Arg)
c.1901T>G (p.Met634Arg)
c.2627T>G (p.Met876Arg)
c.2063T>G (p.Met688Arg)
c.996T>G
c.1863T>G
c.2822T>G (p.Met941Arg)
c.2579T>G (p.Met860Arg)
19g.7462326T=CA2320929849ARHGEF18c.1589T= (p.Met530=)
c.1901T= (p.Met634=)
c.2627T= (p.Met876=)
c.2063T= (p.Met688=)
c.996T=
c.1863T=
c.2822T= (p.Met941=)
c.2579T= (p.Met860=)
19g.7462327G>ACA403081479ARHGEF18c.1590G>A (p.Met530Ile)
c.1902G>A (p.Met634Ile)
c.2628G>A (p.Met876Ile)
c.2064G>A (p.Met688Ile)
c.997G>A
c.1864G>A
c.2823G>A (p.Met941Ile)
c.2580G>A (p.Met860Ile)
dbSNP gnomAD v4
19g.7462327G>CCA403081483ARHGEF18c.1590G>C (p.Met530Ile)
c.1902G>C (p.Met634Ile)
c.2628G>C (p.Met876Ile)
c.2064G>C (p.Met688Ile)
c.997G>C
c.1864G>C
c.2823G>C (p.Met941Ile)
c.2580G>C (p.Met860Ile)
COSMIC COSMIC
19g.7462327G=CA2320929850ARHGEF18c.1590G= (p.Met530=)
c.1902G= (p.Met634=)
c.2628G= (p.Met876=)
c.2064G= (p.Met688=)
c.997G=
c.1864G=
c.2823G= (p.Met941=)
c.2580G= (p.Met860=)
19g.7462327G>TCA403081481ARHGEF18c.1590G>T (p.Met530Ile)
c.1902G>T (p.Met634Ile)
c.2628G>T (p.Met876Ile)
c.2064G>T (p.Met688Ile)
c.997G>T
c.1864G>T
c.2823G>T (p.Met941Ile)
c.2580G>T (p.Met860Ile)
dbSNP
19g.7462328A>CCA403081484ARHGEF18c.1591A>C (p.Ser531Arg)
c.1903A>C (p.Ser635Arg)
c.2629A>C (p.Ser877Arg)
c.2065A>C (p.Ser689Arg)
c.998A>C
c.1865A>C
c.2824A>C (p.Ser942Arg)
c.2581A>C (p.Ser861Arg)
19g.7462328A>GCA403081488ARHGEF18c.1591A>G (p.Ser531Gly)
c.1903A>G (p.Ser635Gly)
c.2629A>G (p.Ser877Gly)
c.2065A>G (p.Ser689Gly)
c.998A>G
c.1865A>G
c.2824A>G (p.Ser942Gly)
c.2581A>G (p.Ser861Gly)
ClinVar gnomAD v4
19g.7462328A>TCA403081486ARHGEF18c.1591A>T (p.Ser531Cys)
c.1903A>T (p.Ser635Cys)
c.2629A>T (p.Ser877Cys)
c.2065A>T (p.Ser689Cys)
c.998A>T
c.1865A>T
c.2824A>T (p.Ser942Cys)
c.2581A>T (p.Ser861Cys)
19g.7462329G>ACA403081490ARHGEF18c.1592G>A (p.Ser531Asn)
c.1904G>A (p.Ser635Asn)
c.2630G>A (p.Ser877Asn)
c.2066G>A (p.Ser689Asn)
c.999G>A
c.1866G>A
c.2825G>A (p.Ser942Asn)
c.2582G>A (p.Ser861Asn)
19g.7462329G>CCA403081491ARHGEF18c.1592G>C (p.Ser531Thr)
c.1904G>C (p.Ser635Thr)
c.2630G>C (p.Ser877Thr)
c.2066G>C (p.Ser689Thr)
c.999G>C
c.1866G>C
c.2825G>C (p.Ser942Thr)
c.2582G>C (p.Ser861Thr)
19g.7462329G>TCA403081492ARHGEF18c.1592G>T (p.Ser531Ile)
c.1904G>T (p.Ser635Ile)
c.2630G>T (p.Ser877Ile)
c.2066G>T (p.Ser689Ile)
c.999G>T
c.1866G>T
c.2825G>T (p.Ser942Ile)
c.2582G>T (p.Ser861Ile)
19g.7462330C>ACA403081494ARHGEF18c.1593C>A (p.Ser531Arg)
c.1905C>A (p.Ser635Arg)
c.2631C>A (p.Ser877Arg)
c.2067C>A (p.Ser689Arg)
c.1000C>A
c.1867C>A
c.2826C>A (p.Ser942Arg)
c.2583C>A (p.Ser861Arg)
dbSNP gnomAD v2 gnomAD v4
19g.7462330C=CA2320929851ARHGEF18c.1593C= (p.Ser531=)
c.1905C= (p.Ser635=)
c.2631C= (p.Ser877=)
c.2067C= (p.Ser689=)
c.1000C=
c.1867C=
c.2826C= (p.Ser942=)
c.2583C= (p.Ser861=)
19g.7462330C>GCA403081496ARHGEF18c.1593C>G (p.Ser531Arg)
c.1905C>G (p.Ser635Arg)
c.2631C>G (p.Ser877Arg)
c.2067C>G (p.Ser689Arg)
c.1000C>G
c.1867C>G
c.2826C>G (p.Ser942Arg)
c.2583C>G (p.Ser861Arg)
19g.7462330C>TCA9136917ARHGEF18c.1593C>T (p.Ser531=)
c.1905C>T (p.Ser635=)
c.2631C>T (p.Ser877=)
c.2067C>T (p.Ser689=)
c.1000C>T
c.1867C>T
c.2826C>T (p.Ser942=)
c.2583C>T (p.Ser861=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7462331G>ACA9136918ARHGEF18c.1594G>A (p.Glu532Lys)
c.1906G>A (p.Glu636Lys)
c.2632G>A (p.Glu878Lys)
c.2068G>A (p.Glu690Lys)
c.1001G>A
c.1868G>A
c.2827G>A (p.Glu943Lys)
c.2584G>A (p.Glu862Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7462331G>CCA403081500ARHGEF18c.1594G>C (p.Glu532Gln)
c.1906G>C (p.Glu636Gln)
c.2632G>C (p.Glu878Gln)
c.2068G>C (p.Glu690Gln)
c.1001G>C
c.1868G>C
c.2827G>C (p.Glu943Gln)
c.2584G>C (p.Glu862Gln)
19g.7462331G=CA2320929852ARHGEF18c.1594G= (p.Glu532=)
c.1906G= (p.Glu636=)
c.2632G= (p.Glu878=)
c.2068G= (p.Glu690=)
c.1001G=
c.1868G=
c.2827G= (p.Glu943=)
c.2584G= (p.Glu862=)
19g.7462331G>TCA403081502ARHGEF18c.1594G>T (p.Glu532Ter)
c.1906G>T (p.Glu636Ter)
c.2632G>T (p.Glu878Ter)
c.2068G>T (p.Glu690Ter)
c.1001G>T
c.1868G>T
c.2827G>T (p.Glu943Ter)
c.2584G>T (p.Glu862Ter)
19g.7462332A>CCA403081504ARHGEF18c.1595A>C (p.Glu532Ala)
c.1907A>C (p.Glu636Ala)
c.2633A>C (p.Glu878Ala)
c.2069A>C (p.Glu690Ala)
c.1002A>C
c.1869A>C
c.2828A>C (p.Glu943Ala)
c.2585A>C (p.Glu862Ala)
19g.7462332A>GCA403081505ARHGEF18c.1595A>G (p.Glu532Gly)
c.1907A>G (p.Glu636Gly)
c.2633A>G (p.Glu878Gly)
c.2069A>G (p.Glu690Gly)
c.1002A>G
c.1869A>G
c.2828A>G (p.Glu943Gly)
c.2585A>G (p.Glu862Gly)
gnomAD v4
19g.7462332A>TCA403081506ARHGEF18c.1595A>T (p.Glu532Val)
c.1907A>T (p.Glu636Val)
c.2633A>T (p.Glu878Val)
c.2069A>T (p.Glu690Val)
c.1002A>T
c.1869A>T
c.2828A>T (p.Glu943Val)
c.2585A>T (p.Glu862Val)
19g.7462333G>ACA505219060ARHGEF18c.1596G>A (p.Glu532=)
c.1908G>A (p.Glu636=)
c.2634G>A (p.Glu878=)
c.2070G>A (p.Glu690=)
c.1003G>A
c.1870G>A
c.2829G>A (p.Glu943=)
c.2586G>A (p.Glu862=)
19g.7462333G>CCA403081510ARHGEF18c.1596G>C (p.Glu532Asp)
c.1908G>C (p.Glu636Asp)
c.2634G>C (p.Glu878Asp)
c.2070G>C (p.Glu690Asp)
c.1003G>C
c.1870G>C
c.2829G>C (p.Glu943Asp)
c.2586G>C (p.Glu862Asp)
19g.7462333G>TCA403081508ARHGEF18c.1596G>T (p.Glu532Asp)
c.1908G>T (p.Glu636Asp)
c.2634G>T (p.Glu878Asp)
c.2070G>T (p.Glu690Asp)
c.1003G>T
c.1870G>T
c.2829G>T (p.Glu943Asp)
c.2586G>T (p.Glu862Asp)
19g.7462334A>CCA403081511ARHGEF18c.1597A>C (p.Ile533Leu)
c.1909A>C (p.Ile637Leu)
c.2635A>C (p.Ile879Leu)
c.2071A>C (p.Ile691Leu)
c.1004A>C
c.1871A>C
c.2830A>C (p.Ile944Leu)
c.2587A>C (p.Ile863Leu)
c.2830A>C (p.Met944Leu)
19g.7462334A>GCA403081512ARHGEF18c.1597A>G (p.Ile533Val)
c.1909A>G (p.Ile637Val)
c.2635A>G (p.Ile879Val)
c.2071A>G (p.Ile691Val)
c.1004A>G
c.1871A>G
c.2830A>G (p.Ile944Val)
c.2587A>G (p.Ile863Val)
c.2830A>G (p.Met944Val)
19g.7462334A>TCA403081514ARHGEF18c.1597A>T (p.Ile533Phe)
c.1909A>T (p.Ile637Phe)
c.2635A>T (p.Ile879Phe)
c.2071A>T (p.Ile691Phe)
c.1004A>T
c.1871A>T
c.2830A>T (p.Ile944Phe)
c.2587A>T (p.Ile863Phe)
c.2830A>T (p.Met944Leu)
19g.7462335G>ACA403081516ARHGEF18c.1597+1G>A (n.1597+1G>A)
c.1909+1G>A (n.1909+1G>A)
c.2635+1G>A (n.2635+1G>A)
c.2071+1G>A (n.2071+1G>A)
c.1004+1G>A
c.1871+1G>A
c.2830+1G>A (n.2830+1G>A)
c.2587+1G>A (n.2587+1G>A)
gnomAD v4
19g.7462335G>CCA403081518ARHGEF18c.1597+1G>C (n.1597+1G>C)
c.1909+1G>C (n.1909+1G>C)
c.2635+1G>C (n.2635+1G>C)
c.2071+1G>C (n.2071+1G>C)
c.1004+1G>C
c.1871+1G>C
c.2830+1G>C (n.2830+1G>C)
c.2587+1G>C (n.2587+1G>C)
19g.7462335G>TCA403081519ARHGEF18c.1597+1G>T (n.1597+1G>T)
c.1909+1G>T (n.1909+1G>T)
c.2635+1G>T (n.2635+1G>T)
c.2071+1G>T (n.2071+1G>T)
c.1004+1G>T
c.1871+1G>T
c.2830+1G>T (n.2830+1G>T)
c.2587+1G>T (n.2587+1G>T)
19g.7462336T>ACA403081522ARHGEF18c.1597+2T>A (n.1597+2T>A)
c.1909+2T>A (n.1909+2T>A)
c.2635+2T>A (n.2635+2T>A)
c.2071+2T>A (n.2071+2T>A)
c.1004+2T>A
c.1871+2T>A
c.2830+2T>A (n.2830+2T>A)
c.2587+2T>A (n.2587+2T>A)
19g.7462336T>CCA403081524ARHGEF18c.1597+2T>C (n.1597+2T>C)
c.1909+2T>C (n.1909+2T>C)
c.2635+2T>C (n.2635+2T>C)
c.2071+2T>C (n.2071+2T>C)
c.1004+2T>C
c.1871+2T>C
c.2830+2T>C (n.2830+2T>C)
c.2587+2T>C (n.2587+2T>C)
19g.7462336T>GCA403081526ARHGEF18c.1597+2T>G (n.1597+2T>G)
c.1909+2T>G (n.1909+2T>G)
c.2635+2T>G (n.2635+2T>G)
c.2071+2T>G (n.2071+2T>G)
c.1004+2T>G
c.1871+2T>G
c.2830+2T>G (n.2830+2T>G)
c.2587+2T>G (n.2587+2T>G)
19g.7462338A=CA2320929853ARHGEF18c.1597+4A= (n.1597+4A=)
c.1909+4A= (n.1909+4A=)
c.2635+4A= (n.2635+4A=)
c.2071+4A= (n.2071+4A=)
c.1004+4A=
c.1871+4A=
c.2830+4A= (n.2830+4A=)
c.2587+4A= (n.2587+4A=)
19g.7462338A>TCA631313619ARHGEF18c.1597+4A>T (n.1597+4A>T)
c.1909+4A>T (n.1909+4A>T)
c.2635+4A>T (n.2635+4A>T)
c.2071+4A>T (n.2071+4A>T)
c.1004+4A>T
c.1871+4A>T
c.2830+4A>T (n.2830+4A>T)
c.2587+4A>T (n.2587+4A>T)
dbSNP gnomAD v2 gnomAD v4
19g.7462339G>ACA2587934142ARHGEF18c.1597+5G>A (n.1597+5G>A)
c.1909+5G>A (n.1909+5G>A)
c.2635+5G>A (n.2635+5G>A)
c.2071+5G>A (n.2071+5G>A)
c.1004+5G>A
c.1871+5G>A
c.2830+5G>A (n.2830+5G>A)
c.2587+5G>A (n.2587+5G>A)
gnomAD v4
19g.7462339G>TCA2587934143ARHGEF18c.1597+5G>T (n.1597+5G>T)
c.1909+5G>T (n.1909+5G>T)
c.2635+5G>T (n.2635+5G>T)
c.2071+5G>T (n.2071+5G>T)
c.1004+5G>T
c.1871+5G>T
c.2830+5G>T (n.2830+5G>T)
c.2587+5G>T (n.2587+5G>T)
gnomAD v4
19g.7462340T>CCA2587934144ARHGEF18c.1597+6T>C (n.1597+6T>C)
c.1909+6T>C (n.1909+6T>C)
c.2635+6T>C (n.2635+6T>C)
c.2071+6T>C (n.2071+6T>C)
c.1004+6T>C
c.1871+6T>C
c.2830+6T>C (n.2830+6T>C)
c.2587+6T>C (n.2587+6T>C)
gnomAD v4
19g.7462341T>CCA2576596094ARHGEF18c.1597+7T>C (n.1597+7T>C)
c.1909+7T>C (n.1909+7T>C)
c.2635+7T>C (n.2635+7T>C)
c.2071+7T>C (n.2071+7T>C)
c.1004+7T>C
c.1871+7T>C
c.2830+7T>C (n.2830+7T>C)
c.2587+7T>C (n.2587+7T>C)
19g.7462341T>GCA2587934145ARHGEF18c.1597+7T>G (n.1597+7T>G)
c.1909+7T>G (n.1909+7T>G)
c.2635+7T>G (n.2635+7T>G)
c.2071+7T>G (n.2071+7T>G)
c.1004+7T>G
c.1871+7T>G
c.2830+7T>G (n.2830+7T>G)
c.2587+7T>G (n.2587+7T>G)
gnomAD v4
19g.7462343G=CA2320929854ARHGEF18c.1597+9G= (n.1597+9G=)
c.1909+9G= (n.1909+9G=)
c.2635+9G= (n.2635+9G=)
c.2071+9G= (n.2071+9G=)
c.1004+9G=
c.1871+9G=
c.2830+9G= (n.2830+9G=)
c.2587+9G= (n.2587+9G=)
19g.7462343G>TCA631313620ARHGEF18c.1597+9G>T (n.1597+9G>T)
c.1909+9G>T (n.1909+9G>T)
c.2635+9G>T (n.2635+9G>T)
c.2071+9G>T (n.2071+9G>T)
c.1004+9G>T
c.1871+9G>T
c.2830+9G>T (n.2830+9G>T)
c.2587+9G>T (n.2587+9G>T)
dbSNP gnomAD v2 gnomAD v4
19g.7462344C>ACA2587934146ARHGEF18c.1597+10C>A (n.1597+10C>A)
c.1909+10C>A (n.1909+10C>A)
c.2635+10C>A (n.2635+10C>A)
c.2071+10C>A (n.2071+10C>A)
c.1004+10C>A
c.1871+10C>A
c.2830+10C>A (n.2830+10C>A)
c.2587+10C>A (n.2587+10C>A)
gnomAD v4
19g.7462344C>TCA2587934147ARHGEF18c.1597+10C>T (n.1597+10C>T)
c.1909+10C>T (n.1909+10C>T)
c.2635+10C>T (n.2635+10C>T)
c.2071+10C>T (n.2071+10C>T)
c.1004+10C>T
c.1871+10C>T
c.2830+10C>T (n.2830+10C>T)
c.2587+10C>T (n.2587+10C>T)
gnomAD v4
19g.7462347C>ACA2587934148ARHGEF18c.1597+13C>A (n.1597+13C>A)
c.1909+13C>A (n.1909+13C>A)
c.2635+13C>A (n.2635+13C>A)
c.2071+13C>A (n.2071+13C>A)
c.1004+13C>A
c.1871+13C>A
c.2830+13C>A (n.2830+13C>A)
c.2587+13C>A (n.2587+13C>A)
gnomAD v4
19g.7462347C>TCA993154070ARHGEF18c.1597+13C>T (n.1597+13C>T)
c.1909+13C>T (n.1909+13C>T)
c.2635+13C>T (n.2635+13C>T)
c.2071+13C>T (n.2071+13C>T)
c.1004+13C>T
c.1871+13C>T
c.2830+13C>T (n.2830+13C>T)
c.2587+13C>T (n.2587+13C>T)
gnomAD v3 gnomAD v4
19g.7462348C>ACA2587934149ARHGEF18c.1597+14C>A (n.1597+14C>A)
c.1909+14C>A (n.1909+14C>A)
c.2635+14C>A (n.2635+14C>A)
c.2071+14C>A (n.2071+14C>A)
c.1004+14C>A
c.1871+14C>A
c.2830+14C>A (n.2830+14C>A)
c.2587+14C>A (n.2587+14C>A)
gnomAD v4
19g.7462351C>ACA2576596095ARHGEF18c.1597+17C>A (n.1597+17C>A)
c.1909+17C>A (n.1909+17C>A)
c.2635+17C>A (n.2635+17C>A)
c.2071+17C>A (n.2071+17C>A)
c.1004+17C>A
c.1871+17C>A
c.2830+17C>A (n.2830+17C>A)
c.2587+17C>A (n.2587+17C>A)
gnomAD v4
19g.7462351C>TCA2587934150ARHGEF18c.1597+17C>T (n.1597+17C>T)
c.1909+17C>T (n.1909+17C>T)
c.2635+17C>T (n.2635+17C>T)
c.2071+17C>T (n.2071+17C>T)
c.1004+17C>T
c.1871+17C>T
c.2830+17C>T (n.2830+17C>T)
c.2587+17C>T (n.2587+17C>T)
gnomAD v4
19g.7462353C>ACA2587934152ARHGEF18c.1597+19C>A (n.1597+19C>A)
c.1909+19C>A (n.1909+19C>A)
c.2635+19C>A (n.2635+19C>A)
c.2071+19C>A (n.2071+19C>A)
c.1004+19C>A
c.1871+19C>A
c.2830+19C>A (n.2830+19C>A)
c.2587+19C>A (n.2587+19C>A)
gnomAD v4
19g.7462354dupCA2587934151ARHGEF18c.1597+20dup (n.1597+20dup)
c.1909+20dup (n.1909+20dup)
c.2635+20dup (n.2635+20dup)
c.2071+20dup (n.2071+20dup)
c.1004+20dup
c.1871+20dup
c.2830+20dup (n.2830+20dup)
c.2587+20dup (n.2587+20dup)
gnomAD v4
19g.7462354C>ACA2587934153ARHGEF18c.1597+20C>A (n.1597+20C>A)
c.1909+20C>A (n.1909+20C>A)
c.2635+20C>A (n.2635+20C>A)
c.2071+20C>A (n.2071+20C>A)
c.1004+20C>A
c.1871+20C>A
c.2830+20C>A (n.2830+20C>A)
c.2587+20C>A (n.2587+20C>A)
gnomAD v4
19g.7462354C=CA2320929855ARHGEF18c.1597+20C= (n.1597+20C=)
c.1909+20C= (n.1909+20C=)
c.2635+20C= (n.2635+20C=)
c.2071+20C= (n.2071+20C=)
c.1004+20C=
c.1871+20C=
c.2830+20C= (n.2830+20C=)
c.2587+20C= (n.2587+20C=)
19g.7462354C>TCA631313621ARHGEF18c.1597+20C>T (n.1597+20C>T)
c.1909+20C>T (n.1909+20C>T)
c.2635+20C>T (n.2635+20C>T)
c.2071+20C>T (n.2071+20C>T)
c.1004+20C>T
c.1871+20C>T
c.2830+20C>T (n.2830+20C>T)
c.2587+20C>T (n.2587+20C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7462355T>GCA2587934154ARHGEF18c.1597+21T>G (n.1597+21T>G)
c.1909+21T>G (n.1909+21T>G)
c.2635+21T>G (n.2635+21T>G)
c.2071+21T>G (n.2071+21T>G)
c.1004+21T>G
c.1871+21T>G
c.2830+21T>G (n.2830+21T>G)
c.2587+21T>G (n.2587+21T>G)
gnomAD v4
19g.7462356C>ACA2587934155ARHGEF18c.1597+22C>A (n.1597+22C>A)
c.1909+22C>A (n.1909+22C>A)
c.2635+22C>A (n.2635+22C>A)
c.2071+22C>A (n.2071+22C>A)
c.1004+22C>A
c.1871+22C>A
c.2830+22C>A (n.2830+22C>A)
c.2587+22C>A (n.2587+22C>A)
gnomAD v4
19g.7462356C=CA2320929856ARHGEF18c.1597+22C= (n.1597+22C=)
c.1909+22C= (n.1909+22C=)
c.2635+22C= (n.2635+22C=)
c.2071+22C= (n.2071+22C=)
c.1004+22C=
c.1871+22C=
c.2830+22C= (n.2830+22C=)
c.2587+22C= (n.2587+22C=)
19g.7462356C>GCA304853846ARHGEF18c.1597+22C>G (n.1597+22C>G)
c.1909+22C>G (n.1909+22C>G)
c.2635+22C>G (n.2635+22C>G)
c.2071+22C>G (n.2071+22C>G)
c.1004+22C>G
c.1871+22C>G
c.2830+22C>G (n.2830+22C>G)
c.2587+22C>G (n.2587+22C>G)
dbSNP gnomAD v4
19g.7462356C>TCA631313622ARHGEF18c.1597+22C>T (n.1597+22C>T)
c.1909+22C>T (n.1909+22C>T)
c.2635+22C>T (n.2635+22C>T)
c.2071+22C>T (n.2071+22C>T)
c.1004+22C>T
c.1871+22C>T
c.2830+22C>T (n.2830+22C>T)
c.2587+22C>T (n.2587+22C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7462357A=CA2320929857ARHGEF18c.1597+23A= (n.1597+23A=)
c.1909+23A= (n.1909+23A=)
c.2635+23A= (n.2635+23A=)
c.2071+23A= (n.2071+23A=)
c.1004+23A=
c.1871+23A=
c.2830+23A= (n.2830+23A=)
c.2587+23A= (n.2587+23A=)
19g.7462357A>CCA2587934156ARHGEF18c.1597+23A>C (n.1597+23A>C)
c.1909+23A>C (n.1909+23A>C)
c.2635+23A>C (n.2635+23A>C)
c.2071+23A>C (n.2071+23A>C)
c.1004+23A>C
c.1871+23A>C
c.2830+23A>C (n.2830+23A>C)
c.2587+23A>C (n.2587+23A>C)
gnomAD v4
19g.7462357A>GCA304853848ARHGEF18c.1597+23A>G (n.1597+23A>G)
c.1909+23A>G (n.1909+23A>G)
c.2635+23A>G (n.2635+23A>G)
c.2071+23A>G (n.2071+23A>G)
c.1004+23A>G
c.1871+23A>G
c.2830+23A>G (n.2830+23A>G)
c.2587+23A>G (n.2587+23A>G)
dbSNP gnomAD v4
19g.7462358A=CA2320929858ARHGEF18c.1597+24A= (n.1597+24A=)
c.1909+24A= (n.1909+24A=)
c.2635+24A= (n.2635+24A=)
c.2071+24A= (n.2071+24A=)
c.1004+24A=
c.1871+24A=
c.2830+24A= (n.2830+24A=)
c.2587+24A= (n.2587+24A=)
19g.7462358A>GCA9136919ARHGEF18c.1597+24A>G (n.1597+24A>G)
c.1909+24A>G (n.1909+24A>G)
c.2635+24A>G (n.2635+24A>G)
c.2071+24A>G (n.2071+24A>G)
c.1004+24A>G
c.1871+24A>G
c.2830+24A>G (n.2830+24A>G)
c.2587+24A>G (n.2587+24A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7462359G>ACA2587934157ARHGEF18c.1597+25G>A (n.1597+25G>A)
c.1909+25G>A (n.1909+25G>A)
c.2635+25G>A (n.2635+25G>A)
c.2071+25G>A (n.2071+25G>A)
c.1004+25G>A
c.1871+25G>A
c.2830+25G>A (n.2830+25G>A)
c.2587+25G>A (n.2587+25G>A)
gnomAD v4
19g.7462359G>CCA2576596096ARHGEF18c.1597+25G>C (n.1597+25G>C)
c.1909+25G>C (n.1909+25G>C)
c.2635+25G>C (n.2635+25G>C)
c.2071+25G>C (n.2071+25G>C)
c.1004+25G>C
c.1871+25G>C
c.2830+25G>C (n.2830+25G>C)
c.2587+25G>C (n.2587+25G>C)
19g.7462359G>TCA2587934158ARHGEF18c.1597+25G>T (n.1597+25G>T)
c.1909+25G>T (n.1909+25G>T)
c.2635+25G>T (n.2635+25G>T)
c.2071+25G>T (n.2071+25G>T)
c.1004+25G>T
c.1871+25G>T
c.2830+25G>T (n.2830+25G>T)
c.2587+25G>T (n.2587+25G>T)
gnomAD v4

Number of alleles fetched