Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.7462194T>ACA403080996ARHGEF18c.1457T>A (p.Leu486Gln)
c.1769T>A (p.Leu590Gln)
c.2495T>A (p.Leu832Gln)
c.1931T>A (p.Leu644Gln)
c.864T>A
c.1731T>A
c.2690T>A (p.Leu897Gln)
c.2447T>A (p.Leu816Gln)
19g.7462194T>CCA403080998ARHGEF18c.1457T>C (p.Leu486Pro)
c.1769T>C (p.Leu590Pro)
c.2495T>C (p.Leu832Pro)
c.1931T>C (p.Leu644Pro)
c.864T>C
c.1731T>C
c.2690T>C (p.Leu897Pro)
c.2447T>C (p.Leu816Pro)
19g.7462194T>GCA403081000ARHGEF18c.1457T>G (p.Leu486Arg)
c.1769T>G (p.Leu590Arg)
c.2495T>G (p.Leu832Arg)
c.1931T>G (p.Leu644Arg)
c.864T>G
c.1731T>G
c.2690T>G (p.Leu897Arg)
c.2447T>G (p.Leu816Arg)
19g.7462195A=CA2320929763ARHGEF18c.1458A= (p.Leu486=)
c.1770A= (p.Leu590=)
c.2496A= (p.Leu832=)
c.1932A= (p.Leu644=)
c.865A=
c.1732A=
c.2691A= (p.Leu897=)
c.2448A= (p.Leu816=)
19g.7462195A>CCA505218972ARHGEF18c.1458A>C (p.Leu486=)
c.1770A>C (p.Leu590=)
c.2496A>C (p.Leu832=)
c.1932A>C (p.Leu644=)
c.865A>C
c.1732A>C
c.2691A>C (p.Leu897=)
c.2448A>C (p.Leu816=)
19g.7462195A>GCA9136880ARHGEF18c.1458A>G (p.Leu486=)
c.1770A>G (p.Leu590=)
c.2496A>G (p.Leu832=)
c.1932A>G (p.Leu644=)
c.865A>G
c.1732A>G
c.2691A>G (p.Leu897=)
c.2448A>G (p.Leu816=)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7462195A>TCA505218973ARHGEF18c.1458A>T (p.Leu486=)
c.1770A>T (p.Leu590=)
c.2496A>T (p.Leu832=)
c.1932A>T (p.Leu644=)
c.865A>T
c.1732A>T
c.2691A>T (p.Leu897=)
c.2448A>T (p.Leu816=)
19g.7462196G>ACA403081004ARHGEF18c.1459G>A (p.Glu487Lys)
c.1771G>A (p.Glu591Lys)
c.2497G>A (p.Glu833Lys)
c.1933G>A (p.Glu645Lys)
c.866G>A
c.1733G>A
c.2692G>A (p.Glu898Lys)
c.2449G>A (p.Glu817Lys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7462196G>CCA403081006ARHGEF18c.1459G>C (p.Glu487Gln)
c.1771G>C (p.Glu591Gln)
c.2497G>C (p.Glu833Gln)
c.1933G>C (p.Glu645Gln)
c.866G>C
c.1733G>C
c.2692G>C (p.Glu898Gln)
c.2449G>C (p.Glu817Gln)
gnomAD v4
19g.7462196G=CA2320929767ARHGEF18c.1459G= (p.Glu487=)
c.1771G= (p.Glu591=)
c.2497G= (p.Glu833=)
c.1933G= (p.Glu645=)
c.866G=
c.1733G=
c.2692G= (p.Glu898=)
c.2449G= (p.Glu817=)
19g.7462196G>TCA403081007ARHGEF18c.1459G>T (p.Glu487Ter)
c.1771G>T (p.Glu591Ter)
c.2497G>T (p.Glu833Ter)
c.1933G>T (p.Glu645Ter)
c.866G>T
c.1733G>T
c.2692G>T (p.Glu898Ter)
c.2449G>T (p.Glu817Ter)
19g.7462197A=CA2320929769ARHGEF18c.1460A= (p.Glu487=)
c.1772A= (p.Glu591=)
c.2498A= (p.Glu833=)
c.1934A= (p.Glu645=)
c.867A=
c.1734A=
c.2693A= (p.Glu898=)
c.2450A= (p.Glu817=)
19g.7462197A>CCA403081009ARHGEF18c.1460A>C (p.Glu487Ala)
c.1772A>C (p.Glu591Ala)
c.2498A>C (p.Glu833Ala)
c.1934A>C (p.Glu645Ala)
c.867A>C
c.1734A>C
c.2693A>C (p.Glu898Ala)
c.2450A>C (p.Glu817Ala)
19g.7462197A>GCA403081011ARHGEF18c.1460A>G (p.Glu487Gly)
c.1772A>G (p.Glu591Gly)
c.2498A>G (p.Glu833Gly)
c.1934A>G (p.Glu645Gly)
c.867A>G
c.1734A>G
c.2693A>G (p.Glu898Gly)
c.2450A>G (p.Glu817Gly)
ClinVar dbSNP
19g.7462197A>TCA403081013ARHGEF18c.1460A>T (p.Glu487Val)
c.1772A>T (p.Glu591Val)
c.2498A>T (p.Glu833Val)
c.1934A>T (p.Glu645Val)
c.867A>T
c.1734A>T
c.2693A>T (p.Glu898Val)
c.2450A>T (p.Glu817Val)
19g.7462198G>ACA9136881ARHGEF18c.1461G>A (p.Glu487=)
c.1773G>A (p.Glu591=)
c.2499G>A (p.Glu833=)
c.1935G>A (p.Glu645=)
c.868G>A
c.1735G>A
c.2694G>A (p.Glu898=)
c.2451G>A (p.Glu817=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7462198G>CCA403081015ARHGEF18c.1461G>C (p.Glu487Asp)
c.1773G>C (p.Glu591Asp)
c.2499G>C (p.Glu833Asp)
c.1935G>C (p.Glu645Asp)
c.868G>C
c.1735G>C
c.2694G>C (p.Glu898Asp)
c.2451G>C (p.Glu817Asp)
19g.7462198G=CA2320929773ARHGEF18c.1461G= (p.Glu487=)
c.1773G= (p.Glu591=)
c.2499G= (p.Glu833=)
c.1935G= (p.Glu645=)
c.868G=
c.1735G=
c.2694G= (p.Glu898=)
c.2451G= (p.Glu817=)
19g.7462198G>TCA403081016ARHGEF18c.1461G>T (p.Glu487Asp)
c.1773G>T (p.Glu591Asp)
c.2499G>T (p.Glu833Asp)
c.1935G>T (p.Glu645Asp)
c.868G>T
c.1735G>T
c.2694G>T (p.Glu898Asp)
c.2451G>T (p.Glu817Asp)
dbSNP gnomAD v4
19g.7462199A>CCA403081019ARHGEF18c.1462A>C (p.Lys488Gln)
c.1774A>C (p.Lys592Gln)
c.2500A>C (p.Lys834Gln)
c.1936A>C (p.Lys646Gln)
c.869A>C
c.1736A>C
c.2695A>C (p.Lys899Gln)
c.2452A>C (p.Lys818Gln)
19g.7462199A>GCA403081021ARHGEF18c.1462A>G (p.Lys488Glu)
c.1774A>G (p.Lys592Glu)
c.2500A>G (p.Lys834Glu)
c.1936A>G (p.Lys646Glu)
c.869A>G
c.1736A>G
c.2695A>G (p.Lys899Glu)
c.2452A>G (p.Lys818Glu)
19g.7462199A>TCA403081022ARHGEF18c.1462A>T (p.Lys488Ter)
c.1774A>T (p.Lys592Ter)
c.2500A>T (p.Lys834Ter)
c.1936A>T (p.Lys646Ter)
c.869A>T
c.1736A>T
c.2695A>T (p.Lys899Ter)
c.2452A>T (p.Lys818Ter)
19g.7462200A>CCA403081025ARHGEF18c.1463A>C (p.Lys488Thr)
c.1775A>C (p.Lys592Thr)
c.2501A>C (p.Lys834Thr)
c.1937A>C (p.Lys646Thr)
c.870A>C
c.1737A>C
c.2696A>C (p.Lys899Thr)
c.2453A>C (p.Lys818Thr)
19g.7462200A>GCA403081026ARHGEF18c.1463A>G (p.Lys488Arg)
c.1775A>G (p.Lys592Arg)
c.2501A>G (p.Lys834Arg)
c.1937A>G (p.Lys646Arg)
c.870A>G
c.1737A>G
c.2696A>G (p.Lys899Arg)
c.2453A>G (p.Lys818Arg)
19g.7462200A>TCA403081029ARHGEF18c.1463A>T (p.Lys488Ile)
c.1775A>T (p.Lys592Ile)
c.2501A>T (p.Lys834Ile)
c.1937A>T (p.Lys646Ile)
c.870A>T
c.1737A>T
c.2696A>T (p.Lys899Ile)
c.2453A>T (p.Lys818Ile)
19g.7462201A>CCA403081031ARHGEF18c.1464A>C (p.Lys488Asn)
c.1776A>C (p.Lys592Asn)
c.2502A>C (p.Lys834Asn)
c.1938A>C (p.Lys646Asn)
c.871A>C
c.1738A>C
c.2697A>C (p.Lys899Asn)
c.2454A>C (p.Lys818Asn)
19g.7462201A>GCA505218974ARHGEF18c.1464A>G (p.Lys488=)
c.1776A>G (p.Lys592=)
c.2502A>G (p.Lys834=)
c.1938A>G (p.Lys646=)
c.871A>G
c.1738A>G
c.2697A>G (p.Lys899=)
c.2454A>G (p.Lys818=)
19g.7462201A>TCA403081034ARHGEF18c.1464A>T (p.Lys488Asn)
c.1776A>T (p.Lys592Asn)
c.2502A>T (p.Lys834Asn)
c.1938A>T (p.Lys646Asn)
c.871A>T
c.1738A>T
c.2697A>T (p.Lys899Asn)
c.2454A>T (p.Lys818Asn)
19g.7462202C>ACA403081035ARHGEF18c.1465C>A (p.Gln489Lys)
c.1777C>A (p.Gln593Lys)
c.2503C>A (p.Gln835Lys)
c.1939C>A (p.Gln647Lys)
c.872C>A
c.1739C>A
c.2698C>A (p.Gln900Lys)
c.2455C>A (p.Gln819Lys)
19g.7462202C=CA2320929776ARHGEF18c.1465C= (p.Gln489=)
c.1777C= (p.Gln593=)
c.2503C= (p.Gln835=)
c.1939C= (p.Gln647=)
c.872C=
c.1739C=
c.2698C= (p.Gln900=)
c.2455C= (p.Gln819=)
19g.7462202C>GCA403081036ARHGEF18c.1465C>G (p.Gln489Glu)
c.1777C>G (p.Gln593Glu)
c.2503C>G (p.Gln835Glu)
c.1939C>G (p.Gln647Glu)
c.872C>G
c.1739C>G
c.2698C>G (p.Gln900Glu)
c.2455C>G (p.Gln819Glu)
gnomAD v4
19g.7462202C>TCA403081037ARHGEF18c.1465C>T (p.Gln489Ter)
c.1777C>T (p.Gln593Ter)
c.2503C>T (p.Gln835Ter)
c.1939C>T (p.Gln647Ter)
c.872C>T
c.1739C>T
c.2698C>T (p.Gln900Ter)
c.2455C>T (p.Gln819Ter)
19g.7462203A>CCA403081040ARHGEF18c.1466A>C (p.Gln489Pro)
c.1778A>C (p.Gln593Pro)
c.2504A>C (p.Gln835Pro)
c.1940A>C (p.Gln647Pro)
c.873A>C
c.1740A>C
c.2699A>C (p.Gln900Pro)
c.2456A>C (p.Gln819Pro)
19g.7462203A>GCA403081039ARHGEF18c.1466A>G (p.Gln489Arg)
c.1778A>G (p.Gln593Arg)
c.2504A>G (p.Gln835Arg)
c.1940A>G (p.Gln647Arg)
c.873A>G
c.1740A>G
c.2699A>G (p.Gln900Arg)
c.2456A>G (p.Gln819Arg)
gnomAD v4
19g.7462203A>TCA403081038ARHGEF18c.1466A>T (p.Gln489Leu)
c.1778A>T (p.Gln593Leu)
c.2504A>T (p.Gln835Leu)
c.1940A>T (p.Gln647Leu)
c.873A>T
c.1740A>T
c.2699A>T (p.Gln900Leu)
c.2456A>T (p.Gln819Leu)
19g.7462204_7462208dupCA2320929777ARHGEF18c.1467_1471dup (p.Ile491SerfsTer?)
c.1779_1783dup (p.Ile595SerfsTer?)
c.2505_2509dup (p.Ile837SerfsTer?)
c.1941_1945dup (p.Ile649SerfsTer?)
c.874_878dup
c.1741_1745dup
c.2700_2704dup (p.Ile902SerfsTer?)
c.2457_2461dup (p.Ile821SerfsTer?)
dbSNP
19g.7462204G>ACA304853708ARHGEF18c.1467G>A (p.Gln489=)
c.1779G>A (p.Gln593=)
c.2505G>A (p.Gln835=)
c.1941G>A (p.Gln647=)
c.874G>A
c.1741G>A
c.2700G>A (p.Gln900=)
c.2457G>A (p.Gln819=)
dbSNP
19g.7462204G>CCA403081041ARHGEF18c.1467G>C (p.Gln489His)
c.1779G>C (p.Gln593His)
c.2505G>C (p.Gln835His)
c.1941G>C (p.Gln647His)
c.874G>C
c.1741G>C
c.2700G>C (p.Gln900His)
c.2457G>C (p.Gln819His)
19g.7462204G=CA2320929779ARHGEF18c.1467G= (p.Gln489=)
c.1779G= (p.Gln593=)
c.2505G= (p.Gln835=)
c.1941G= (p.Gln647=)
c.874G=
c.1741G=
c.2700G= (p.Gln900=)
c.2457G= (p.Gln819=)
19g.7462204G>TCA403081042ARHGEF18c.1467G>T (p.Gln489His)
c.1779G>T (p.Gln593His)
c.2505G>T (p.Gln835His)
c.1941G>T (p.Gln647His)
c.874G>T
c.1741G>T
c.2700G>T (p.Gln900His)
c.2457G>T (p.Gln819His)
19g.7462205C>ACA403081043ARHGEF18c.1468C>A (p.Gln490Lys)
c.1780C>A (p.Gln594Lys)
c.2506C>A (p.Gln836Lys)
c.1942C>A (p.Gln648Lys)
c.875C>A
c.1742C>A
c.2701C>A (p.Gln901Lys)
c.2458C>A (p.Gln820Lys)
19g.7462205C>GCA403081044ARHGEF18c.1468C>G (p.Gln490Glu)
c.1780C>G (p.Gln594Glu)
c.2506C>G (p.Gln836Glu)
c.1942C>G (p.Gln648Glu)
c.875C>G
c.1742C>G
c.2701C>G (p.Gln901Glu)
c.2458C>G (p.Gln820Glu)
19g.7462205C>TCA403081045ARHGEF18c.1468C>T (p.Gln490Ter)
c.1780C>T (p.Gln594Ter)
c.2506C>T (p.Gln836Ter)
c.1942C>T (p.Gln648Ter)
c.875C>T
c.1742C>T
c.2701C>T (p.Gln901Ter)
c.2458C>T (p.Gln820Ter)
19g.7462206A>CCA403081046ARHGEF18c.1469A>C (p.Gln490Pro)
c.1781A>C (p.Gln594Pro)
c.2507A>C (p.Gln836Pro)
c.1943A>C (p.Gln648Pro)
c.876A>C
c.1743A>C
c.2702A>C (p.Gln901Pro)
c.2459A>C (p.Gln820Pro)
19g.7462206A>GCA403081047ARHGEF18c.1469A>G (p.Gln490Arg)
c.1781A>G (p.Gln594Arg)
c.2507A>G (p.Gln836Arg)
c.1943A>G (p.Gln648Arg)
c.876A>G
c.1743A>G
c.2702A>G (p.Gln901Arg)
c.2459A>G (p.Gln820Arg)
gnomAD v4
19g.7462206A>TCA403081048ARHGEF18c.1469A>T (p.Gln490Leu)
c.1781A>T (p.Gln594Leu)
c.2507A>T (p.Gln836Leu)
c.1943A>T (p.Gln648Leu)
c.876A>T
c.1743A>T
c.2702A>T (p.Gln901Leu)
c.2459A>T (p.Gln820Leu)
19g.7462207G>ACA505218975ARHGEF18c.1470G>A (p.Gln490=)
c.1782G>A (p.Gln594=)
c.2508G>A (p.Gln836=)
c.1944G>A (p.Gln648=)
c.877G>A
c.1744G>A
c.2703G>A (p.Gln901=)
c.2460G>A (p.Gln820=)
19g.7462207G>CCA403081049ARHGEF18c.1470G>C (p.Gln490His)
c.1782G>C (p.Gln594His)
c.2508G>C (p.Gln836His)
c.1944G>C (p.Gln648His)
c.877G>C
c.1744G>C
c.2703G>C (p.Gln901His)
c.2460G>C (p.Gln820His)
19g.7462207G>TCA403081050ARHGEF18c.1470G>T (p.Gln490His)
c.1782G>T (p.Gln594His)
c.2508G>T (p.Gln836His)
c.1944G>T (p.Gln648His)
c.877G>T
c.1744G>T
c.2703G>T (p.Gln901His)
c.2460G>T (p.Gln820His)
19g.7462208A=CA2320929781ARHGEF18c.1471A= (p.Ile491=)
c.1783A= (p.Ile595=)
c.2509A= (p.Ile837=)
c.1945A= (p.Ile649=)
c.878A=
c.1745A=
c.2704A= (p.Ile902=)
c.2461A= (p.Ile821=)
19g.7462208A>CCA403081051ARHGEF18c.1471A>C (p.Ile491Leu)
c.1783A>C (p.Ile595Leu)
c.2509A>C (p.Ile837Leu)
c.1945A>C (p.Ile649Leu)
c.878A>C
c.1745A>C
c.2704A>C (p.Ile902Leu)
c.2461A>C (p.Ile821Leu)
19g.7462208A>GCA403081052ARHGEF18c.1471A>G (p.Ile491Val)
c.1783A>G (p.Ile595Val)
c.2509A>G (p.Ile837Val)
c.1945A>G (p.Ile649Val)
c.878A>G
c.1745A>G
c.2704A>G (p.Ile902Val)
c.2461A>G (p.Ile821Val)
dbSNP gnomAD v2 gnomAD v4
19g.7462208A>TCA9136882ARHGEF18c.1471A>T (p.Ile491Phe)
c.1783A>T (p.Ile595Phe)
c.2509A>T (p.Ile837Phe)
c.1945A>T (p.Ile649Phe)
c.878A>T
c.1745A>T
c.2704A>T (p.Ile902Phe)
c.2461A>T (p.Ile821Phe)
dbSNP ExAC gnomAD v2
19g.7462209T>ACA403081055ARHGEF18c.1472T>A (p.Ile491Asn)
c.1784T>A (p.Ile595Asn)
c.2510T>A (p.Ile837Asn)
c.1946T>A (p.Ile649Asn)
c.879T>A
c.1746T>A
c.2705T>A (p.Ile902Asn)
c.2462T>A (p.Ile821Asn)
19g.7462209T>CCA403081053ARHGEF18c.1472T>C (p.Ile491Thr)
c.1784T>C (p.Ile595Thr)
c.2510T>C (p.Ile837Thr)
c.1946T>C (p.Ile649Thr)
c.879T>C
c.1746T>C
c.2705T>C (p.Ile902Thr)
c.2462T>C (p.Ile821Thr)
19g.7462209T>GCA403081054ARHGEF18c.1472T>G (p.Ile491Ser)
c.1784T>G (p.Ile595Ser)
c.2510T>G (p.Ile837Ser)
c.1946T>G (p.Ile649Ser)
c.879T>G
c.1746T>G
c.2705T>G (p.Ile902Ser)
c.2462T>G (p.Ile821Ser)
19g.7462210C>ACA505218976ARHGEF18c.1473C>A (p.Ile491=)
c.1785C>A (p.Ile595=)
c.2511C>A (p.Ile837=)
c.1947C>A (p.Ile649=)
c.880C>A
c.1747C>A
c.2706C>A (p.Ile902=)
c.2463C>A (p.Ile821=)
19g.7462210C=CA2320929784ARHGEF18c.1473C= (p.Ile491=)
c.1785C= (p.Ile595=)
c.2511C= (p.Ile837=)
c.1947C= (p.Ile649=)
c.880C=
c.1747C=
c.2706C= (p.Ile902=)
c.2463C= (p.Ile821=)
19g.7462210C>GCA9136883ARHGEF18c.1473C>G (p.Ile491Met)
c.1785C>G (p.Ile595Met)
c.2511C>G (p.Ile837Met)
c.1947C>G (p.Ile649Met)
c.880C>G
c.1747C>G
c.2706C>G (p.Ile902Met)
c.2463C>G (p.Ile821Met)
dbSNP ExAC gnomAD v3 gnomAD v4
19g.7462210C>TCA505218977ARHGEF18c.1473C>T (p.Ile491=)
c.1785C>T (p.Ile595=)
c.2511C>T (p.Ile837=)
c.1947C>T (p.Ile649=)
c.880C>T
c.1747C>T
c.2706C>T (p.Ile902=)
c.2463C>T (p.Ile821=)
19g.7462211T>ACA403081056ARHGEF18c.1474T>A (p.Tyr492Asn)
c.1786T>A (p.Tyr596Asn)
c.2512T>A (p.Tyr838Asn)
c.1948T>A (p.Tyr650Asn)
c.881T>A
c.1748T>A
c.2707T>A (p.Tyr903Asn)
c.2464T>A (p.Tyr822Asn)
19g.7462211T>CCA403081057ARHGEF18c.1474T>C (p.Tyr492His)
c.1786T>C (p.Tyr596His)
c.2512T>C (p.Tyr838His)
c.1948T>C (p.Tyr650His)
c.881T>C
c.1748T>C
c.2707T>C (p.Tyr903His)
c.2464T>C (p.Tyr822His)
19g.7462211T>GCA403081058ARHGEF18c.1474T>G (p.Tyr492Asp)
c.1786T>G (p.Tyr596Asp)
c.2512T>G (p.Tyr838Asp)
c.1948T>G (p.Tyr650Asp)
c.881T>G
c.1748T>G
c.2707T>G (p.Tyr903Asp)
c.2464T>G (p.Tyr822Asp)
19g.7462212A>CCA403081059ARHGEF18c.1475A>C (p.Tyr492Ser)
c.1787A>C (p.Tyr596Ser)
c.2513A>C (p.Tyr838Ser)
c.1949A>C (p.Tyr650Ser)
c.882A>C
c.1749A>C
c.2708A>C (p.Tyr903Ser)
c.2465A>C (p.Tyr822Ser)
19g.7462212A>GCA403081060ARHGEF18c.1475A>G (p.Tyr492Cys)
c.1787A>G (p.Tyr596Cys)
c.2513A>G (p.Tyr838Cys)
c.1949A>G (p.Tyr650Cys)
c.882A>G
c.1749A>G
c.2708A>G (p.Tyr903Cys)
c.2465A>G (p.Tyr822Cys)
19g.7462212A>TCA403081061ARHGEF18c.1475A>T (p.Tyr492Phe)
c.1787A>T (p.Tyr596Phe)
c.2513A>T (p.Tyr838Phe)
c.1949A>T (p.Tyr650Phe)
c.882A>T
c.1749A>T
c.2708A>T (p.Tyr903Phe)
c.2465A>T (p.Tyr822Phe)
19g.7462213C>ACA403081062ARHGEF18c.1476C>A (p.Tyr492Ter)
c.1788C>A (p.Tyr596Ter)
c.2514C>A (p.Tyr838Ter)
c.1950C>A (p.Tyr650Ter)
c.883C>A
c.1750C>A
c.2709C>A (p.Tyr903Ter)
c.2466C>A (p.Tyr822Ter)
19g.7462213C=CA2320929787ARHGEF18c.1476C= (p.Tyr492=)
c.1788C= (p.Tyr596=)
c.2514C= (p.Tyr838=)
c.1950C= (p.Tyr650=)
c.883C=
c.1750C=
c.2709C= (p.Tyr903=)
c.2466C= (p.Tyr822=)
19g.7462213C>GCA403081063ARHGEF18c.1476C>G (p.Tyr492Ter)
c.1788C>G (p.Tyr596Ter)
c.2514C>G (p.Tyr838Ter)
c.1950C>G (p.Tyr650Ter)
c.883C>G
c.1750C>G
c.2709C>G (p.Tyr903Ter)
c.2466C>G (p.Tyr822Ter)
19g.7462213C>TCA9136884ARHGEF18c.1476C>T (p.Tyr492=)
c.1788C>T (p.Tyr596=)
c.2514C>T (p.Tyr838=)
c.1950C>T (p.Tyr650=)
c.883C>T
c.1750C>T
c.2709C>T (p.Tyr903=)
c.2466C>T (p.Tyr822=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7462214C>ACA403081064ARHGEF18c.1477C>A (p.Leu493Met)
c.1789C>A (p.Leu597Met)
c.2515C>A (p.Leu839Met)
c.1951C>A (p.Leu651Met)
c.884C>A
c.1751C>A
c.2710C>A (p.Leu904Met)
c.2467C>A (p.Leu823Met)
gnomAD v4
19g.7462214C=CA2320929789ARHGEF18c.1477C= (p.Leu493=)
c.1789C= (p.Leu597=)
c.2515C= (p.Leu839=)
c.1951C= (p.Leu651=)
c.884C=
c.1751C=
c.2710C= (p.Leu904=)
c.2467C= (p.Leu823=)
19g.7462214C>GCA403081065ARHGEF18c.1477C>G (p.Leu493Val)
c.1789C>G (p.Leu597Val)
c.2515C>G (p.Leu839Val)
c.1951C>G (p.Leu651Val)
c.884C>G
c.1751C>G
c.2710C>G (p.Leu904Val)
c.2467C>G (p.Leu823Val)
19g.7462214C>TCA505218978ARHGEF18c.1477C>T (p.Leu493=)
c.1789C>T (p.Leu597=)
c.2515C>T (p.Leu839=)
c.1951C>T (p.Leu651=)
c.884C>T
c.1751C>T
c.2710C>T (p.Leu904=)
c.2467C>T (p.Leu823=)
dbSNP
19g.7462215T>ACA403081068ARHGEF18c.1478T>A (p.Leu493Gln)
c.1790T>A (p.Leu597Gln)
c.2516T>A (p.Leu839Gln)
c.1952T>A (p.Leu651Gln)
c.885T>A
c.1752T>A
c.2711T>A (p.Leu904Gln)
c.2468T>A (p.Leu823Gln)
19g.7462215T>CCA403081067ARHGEF18c.1478T>C (p.Leu493Pro)
c.1790T>C (p.Leu597Pro)
c.2516T>C (p.Leu839Pro)
c.1952T>C (p.Leu651Pro)
c.885T>C
c.1752T>C
c.2711T>C (p.Leu904Pro)
c.2468T>C (p.Leu823Pro)
dbSNP
19g.7462215T>GCA403081066ARHGEF18c.1478T>G (p.Leu493Arg)
c.1790T>G (p.Leu597Arg)
c.2516T>G (p.Leu839Arg)
c.1952T>G (p.Leu651Arg)
c.885T>G
c.1752T>G
c.2711T>G (p.Leu904Arg)
c.2468T>G (p.Leu823Arg)
19g.7462215T=CA2320929793ARHGEF18c.1478T= (p.Leu493=)
c.1790T= (p.Leu597=)
c.2516T= (p.Leu839=)
c.1952T= (p.Leu651=)
c.885T=
c.1752T=
c.2711T= (p.Leu904=)
c.2468T= (p.Leu823=)
19g.7462216G>ACA9136886ARHGEF18c.1479G>A (p.Leu493=)
c.1791G>A (p.Leu597=)
c.2517G>A (p.Leu839=)
c.1953G>A (p.Leu651=)
c.886G>A
c.1753G>A
c.2712G>A (p.Leu904=)
c.2469G>A (p.Leu823=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.7462216G>CCA9136885ARHGEF18c.1479G>C (p.Leu493=)
c.1791G>C (p.Leu597=)
c.2517G>C (p.Leu839=)
c.1953G>C (p.Leu651=)
c.886G>C
c.1753G>C
c.2712G>C (p.Leu904=)
c.2469G>C (p.Leu823=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7462216G=CA2320929797ARHGEF18c.1479G= (p.Leu493=)
c.1791G= (p.Leu597=)
c.2517G= (p.Leu839=)
c.1953G= (p.Leu651=)
c.886G=
c.1753G=
c.2712G= (p.Leu904=)
c.2469G= (p.Leu823=)
19g.7462216G>TCA505218979ARHGEF18c.1479G>T (p.Leu493=)
c.1791G>T (p.Leu597=)
c.2517G>T (p.Leu839=)
c.1953G>T (p.Leu651=)
c.886G>T
c.1753G>T
c.2712G>T (p.Leu904=)
c.2469G>T (p.Leu823=)
19g.7462217G>ACA403081069ARHGEF18c.1480G>A (p.Glu494Lys)
c.1792G>A (p.Glu598Lys)
c.2518G>A (p.Glu840Lys)
c.1954G>A (p.Glu652Lys)
c.887G>A
c.1754G>A
c.2713G>A (p.Glu905Lys)
c.2470G>A (p.Glu824Lys)
19g.7462217G>CCA403081071ARHGEF18c.1480G>C (p.Glu494Gln)
c.1792G>C (p.Glu598Gln)
c.2518G>C (p.Glu840Gln)
c.1954G>C (p.Glu652Gln)
c.887G>C
c.1754G>C
c.2713G>C (p.Glu905Gln)
c.2470G>C (p.Glu824Gln)
dbSNP gnomAD v2 gnomAD v4
19g.7462217G=CA2320929800ARHGEF18c.1480G= (p.Glu494=)
c.1792G= (p.Glu598=)
c.2518G= (p.Glu840=)
c.1954G= (p.Glu652=)
c.887G=
c.1754G=
c.2713G= (p.Glu905=)
c.2470G= (p.Glu824=)
19g.7462217G>TCA403081070ARHGEF18c.1480G>T (p.Glu494Ter)
c.1792G>T (p.Glu598Ter)
c.2518G>T (p.Glu840Ter)
c.1954G>T (p.Glu652Ter)
c.887G>T
c.1754G>T
c.2713G>T (p.Glu905Ter)
c.2470G>T (p.Glu824Ter)
19g.7462224_7462232delCA2587934139ARHGEF18c.1487_1495del (p.Ala496_Met498del)
c.1799_1807del (p.Ala600_Met602del)
c.2525_2533del (p.Ala842_Met844del)
c.1961_1969del (p.Ala654_Met656del)
c.894_902del
c.1761_1769del
c.2720_2728del (p.Ala907_Met909del)
c.2477_2485del (p.Ala826_Met828del)
gnomAD v4
19g.7462218A=CA2320929801ARHGEF18c.1481A= (p.Glu494=)
c.1793A= (p.Glu598=)
c.2519A= (p.Glu840=)
c.1955A= (p.Glu652=)
c.888A=
c.1755A=
c.2714A= (p.Glu905=)
c.2471A= (p.Glu824=)
19g.7462218A>CCA403081072ARHGEF18c.1481A>C (p.Glu494Ala)
c.1793A>C (p.Glu598Ala)
c.2519A>C (p.Glu840Ala)
c.1955A>C (p.Glu652Ala)
c.888A>C
c.1755A>C
c.2714A>C (p.Glu905Ala)
c.2471A>C (p.Glu824Ala)
19g.7462218A>GCA403081074ARHGEF18c.1481A>G (p.Glu494Gly)
c.1793A>G (p.Glu598Gly)
c.2519A>G (p.Glu840Gly)
c.1955A>G (p.Glu652Gly)
c.888A>G
c.1755A>G
c.2714A>G (p.Glu905Gly)
c.2471A>G (p.Glu824Gly)
COSMIC COSMIC
19g.7462218A>TCA403081073ARHGEF18c.1481A>T (p.Glu494Val)
c.1793A>T (p.Glu598Val)
c.2519A>T (p.Glu840Val)
c.1955A>T (p.Glu652Val)
c.888A>T
c.1755A>T
c.2714A>T (p.Glu905Val)
c.2471A>T (p.Glu824Val)
dbSNP
19g.7462219G>ACA9136887ARHGEF18c.1482G>A (p.Glu494=)
c.1794G>A (p.Glu598=)
c.2520G>A (p.Glu840=)
c.1956G>A (p.Glu652=)
c.889G>A
c.1756G>A
c.2715G>A (p.Glu905=)
c.2472G>A (p.Glu824=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7462219G>CCA403081076ARHGEF18c.1482G>C (p.Glu494Asp)
c.1794G>C (p.Glu598Asp)
c.2520G>C (p.Glu840Asp)
c.1956G>C (p.Glu652Asp)
c.889G>C
c.1756G>C
c.2715G>C (p.Glu905Asp)
c.2472G>C (p.Glu824Asp)
dbSNP
19g.7462219G=CA2320929802ARHGEF18c.1482G= (p.Glu494=)
c.1794G= (p.Glu598=)
c.2520G= (p.Glu840=)
c.1956G= (p.Glu652=)
c.889G=
c.1756G=
c.2715G= (p.Glu905=)
c.2472G= (p.Glu824=)
19g.7462219G>TCA403081075ARHGEF18c.1482G>T (p.Glu494Asp)
c.1794G>T (p.Glu598Asp)
c.2520G>T (p.Glu840Asp)
c.1956G>T (p.Glu652Asp)
c.889G>T
c.1756G>T
c.2715G>T (p.Glu905Asp)
c.2472G>T (p.Glu824Asp)
19g.7462219dupCA2587934140ARHGEF18c.1482dup (p.Met495AspfsTer?)
c.1794dup (p.Met599AspfsTer?)
c.2520dup (p.Met841AspfsTer?)
c.1956dup (p.Met653AspfsTer?)
c.889dup
c.1756dup
c.2715dup (p.Met906AspfsTer?)
c.2472dup (p.Met825AspfsTer?)
gnomAD v4
19g.7462220A>CCA403081077ARHGEF18c.1483A>C (p.Met495Leu)
c.1795A>C (p.Met599Leu)
c.2521A>C (p.Met841Leu)
c.1957A>C (p.Met653Leu)
c.890A>C
c.1757A>C
c.2716A>C (p.Met906Leu)
c.2473A>C (p.Met825Leu)
19g.7462220A>GCA403081078ARHGEF18c.1483A>G (p.Met495Val)
c.1795A>G (p.Met599Val)
c.2521A>G (p.Met841Val)
c.1957A>G (p.Met653Val)
c.890A>G
c.1757A>G
c.2716A>G (p.Met906Val)
c.2473A>G (p.Met825Val)
19g.7462220A>TCA403081079ARHGEF18c.1483A>T (p.Met495Leu)
c.1795A>T (p.Met599Leu)
c.2521A>T (p.Met841Leu)
c.1957A>T (p.Met653Leu)
c.890A>T
c.1757A>T
c.2716A>T (p.Met906Leu)
c.2473A>T (p.Met825Leu)
19g.7462221T>ACA403081080ARHGEF18c.1484T>A (p.Met495Lys)
c.1796T>A (p.Met599Lys)
c.2522T>A (p.Met841Lys)
c.1958T>A (p.Met653Lys)
c.891T>A
c.1758T>A
c.2717T>A (p.Met906Lys)
c.2474T>A (p.Met825Lys)
19g.7462221T>CCA403081081ARHGEF18c.1484T>C (p.Met495Thr)
c.1796T>C (p.Met599Thr)
c.2522T>C (p.Met841Thr)
c.1958T>C (p.Met653Thr)
c.891T>C
c.1758T>C
c.2717T>C (p.Met906Thr)
c.2474T>C (p.Met825Thr)
19g.7462221T>GCA403081082ARHGEF18c.1484T>G (p.Met495Arg)
c.1796T>G (p.Met599Arg)
c.2522T>G (p.Met841Arg)
c.1958T>G (p.Met653Arg)
c.891T>G
c.1758T>G
c.2717T>G (p.Met906Arg)
c.2474T>G (p.Met825Arg)
19g.7462222G>ACA403081083ARHGEF18c.1485G>A (p.Met495Ile)
c.1797G>A (p.Met599Ile)
c.2523G>A (p.Met841Ile)
c.1959G>A (p.Met653Ile)
c.892G>A
c.1759G>A
c.2718G>A (p.Met906Ile)
c.2475G>A (p.Met825Ile)
19g.7462222G>CCA403081084ARHGEF18c.1485G>C (p.Met495Ile)
c.1797G>C (p.Met599Ile)
c.2523G>C (p.Met841Ile)
c.1959G>C (p.Met653Ile)
c.892G>C
c.1759G>C
c.2718G>C (p.Met906Ile)
c.2475G>C (p.Met825Ile)
19g.7462222G>TCA403081085ARHGEF18c.1485G>T (p.Met495Ile)
c.1797G>T (p.Met599Ile)
c.2523G>T (p.Met841Ile)
c.1959G>T (p.Met653Ile)
c.892G>T
c.1759G>T
c.2718G>T (p.Met906Ile)
c.2475G>T (p.Met825Ile)
19g.7462223G>ACA403081086ARHGEF18c.1486G>A (p.Ala496Thr)
c.1798G>A (p.Ala600Thr)
c.2524G>A (p.Ala842Thr)
c.1960G>A (p.Ala654Thr)
c.893G>A
c.1760G>A
c.2719G>A (p.Ala907Thr)
c.2476G>A (p.Ala826Thr)
19g.7462223G>CCA403081087ARHGEF18c.1486G>C (p.Ala496Pro)
c.1798G>C (p.Ala600Pro)
c.2524G>C (p.Ala842Pro)
c.1960G>C (p.Ala654Pro)
c.893G>C
c.1760G>C
c.2719G>C (p.Ala907Pro)
c.2476G>C (p.Ala826Pro)
19g.7462223G>TCA403081088ARHGEF18c.1486G>T (p.Ala496Ser)
c.1798G>T (p.Ala600Ser)
c.2524G>T (p.Ala842Ser)
c.1960G>T (p.Ala654Ser)
c.893G>T
c.1760G>T
c.2719G>T (p.Ala907Ser)
c.2476G>T (p.Ala826Ser)
19g.7462224C>ACA403081089ARHGEF18c.1487C>A (p.Ala496Asp)
c.1799C>A (p.Ala600Asp)
c.2525C>A (p.Ala842Asp)
c.1961C>A (p.Ala654Asp)
c.894C>A
c.1761C>A
c.2720C>A (p.Ala907Asp)
c.2477C>A (p.Ala826Asp)
19g.7462224C>GCA403081091ARHGEF18c.1487C>G (p.Ala496Gly)
c.1799C>G (p.Ala600Gly)
c.2525C>G (p.Ala842Gly)
c.1961C>G (p.Ala654Gly)
c.894C>G
c.1761C>G
c.2720C>G (p.Ala907Gly)
c.2477C>G (p.Ala826Gly)
19g.7462224C>TCA403081090ARHGEF18c.1487C>T (p.Ala496Val)
c.1799C>T (p.Ala600Val)
c.2525C>T (p.Ala842Val)
c.1961C>T (p.Ala654Val)
c.894C>T
c.1761C>T
c.2720C>T (p.Ala907Val)
c.2477C>T (p.Ala826Val)
19g.7462225C>ACA505218982ARHGEF18c.1488C>A (p.Ala496=)
c.1800C>A (p.Ala600=)
c.2526C>A (p.Ala842=)
c.1962C>A (p.Ala654=)
c.895C>A
c.1762C>A
c.2721C>A (p.Ala907=)
c.2478C>A (p.Ala826=)
19g.7462225C=CA2320929803ARHGEF18c.1488C= (p.Ala496=)
c.1800C= (p.Ala600=)
c.2526C= (p.Ala842=)
c.1962C= (p.Ala654=)
c.895C=
c.1762C=
c.2721C= (p.Ala907=)
c.2478C= (p.Ala826=)
19g.7462225C>GCA505218984ARHGEF18c.1488C>G (p.Ala496=)
c.1800C>G (p.Ala600=)
c.2526C>G (p.Ala842=)
c.1962C>G (p.Ala654=)
c.895C>G
c.1762C>G
c.2721C>G (p.Ala907=)
c.2478C>G (p.Ala826=)
19g.7462225C>TCA9136888ARHGEF18c.1488C>T (p.Ala496=)
c.1800C>T (p.Ala600=)
c.2526C>T (p.Ala842=)
c.1962C>T (p.Ala654=)
c.895C>T
c.1762C>T
c.2721C>T (p.Ala907=)
c.2478C>T (p.Ala826=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7462226G>ACA9136889ARHGEF18c.1489G>A (p.Glu497Lys)
c.1801G>A (p.Glu601Lys)
c.2527G>A (p.Glu843Lys)
c.1963G>A (p.Glu655Lys)
c.896G>A
c.1763G>A
c.2722G>A (p.Glu908Lys)
c.2479G>A (p.Glu827Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7462226G>CCA403081092ARHGEF18c.1489G>C (p.Glu497Gln)
c.1801G>C (p.Glu601Gln)
c.2527G>C (p.Glu843Gln)
c.1963G>C (p.Glu655Gln)
c.896G>C
c.1763G>C
c.2722G>C (p.Glu908Gln)
c.2479G>C (p.Glu827Gln)
dbSNP
19g.7462226G=CA2320929804ARHGEF18c.1489G= (p.Glu497=)
c.1801G= (p.Glu601=)
c.2527G= (p.Glu843=)
c.1963G= (p.Glu655=)
c.896G=
c.1763G=
c.2722G= (p.Glu908=)
c.2479G= (p.Glu827=)
19g.7462226G>TCA403081093ARHGEF18c.1489G>T (p.Glu497Ter)
c.1801G>T (p.Glu601Ter)
c.2527G>T (p.Glu843Ter)
c.1963G>T (p.Glu655Ter)
c.896G>T
c.1763G>T
c.2722G>T (p.Glu908Ter)
c.2479G>T (p.Glu827Ter)
19g.7462227A>CCA403081094ARHGEF18c.1490A>C (p.Glu497Ala)
c.1802A>C (p.Glu601Ala)
c.2528A>C (p.Glu843Ala)
c.1964A>C (p.Glu655Ala)
c.897A>C
c.1764A>C
c.2723A>C (p.Glu908Ala)
c.2480A>C (p.Glu827Ala)
19g.7462227A>GCA403081095ARHGEF18c.1490A>G (p.Glu497Gly)
c.1802A>G (p.Glu601Gly)
c.2528A>G (p.Glu843Gly)
c.1964A>G (p.Glu655Gly)
c.897A>G
c.1764A>G
c.2723A>G (p.Glu908Gly)
c.2480A>G (p.Glu827Gly)
19g.7462227A>TCA403081096ARHGEF18c.1490A>T (p.Glu497Val)
c.1802A>T (p.Glu601Val)
c.2528A>T (p.Glu843Val)
c.1964A>T (p.Glu655Val)
c.897A>T
c.1764A>T
c.2723A>T (p.Glu908Val)
c.2480A>T (p.Glu827Val)
19g.7462228G>ACA505218986ARHGEF18c.1491G>A (p.Glu497=)
c.1803G>A (p.Glu601=)
c.2529G>A (p.Glu843=)
c.1965G>A (p.Glu655=)
c.898G>A
c.1765G>A
c.2724G>A (p.Glu908=)
c.2481G>A (p.Glu827=)
dbSNP gnomAD v2 gnomAD v4
19g.7462228G>CCA403081097ARHGEF18c.1491G>C (p.Glu497Asp)
c.1803G>C (p.Glu601Asp)
c.2529G>C (p.Glu843Asp)
c.1965G>C (p.Glu655Asp)
c.898G>C
c.1765G>C
c.2724G>C (p.Glu908Asp)
c.2481G>C (p.Glu827Asp)
dbSNP gnomAD v2 gnomAD v4
19g.7462228G=CA2320929805ARHGEF18c.1491G= (p.Glu497=)
c.1803G= (p.Glu601=)
c.2529G= (p.Glu843=)
c.1965G= (p.Glu655=)
c.898G=
c.1765G=
c.2724G= (p.Glu908=)
c.2481G= (p.Glu827=)
19g.7462228G>TCA403081098ARHGEF18c.1491G>T (p.Glu497Asp)
c.1803G>T (p.Glu601Asp)
c.2529G>T (p.Glu843Asp)
c.1965G>T (p.Glu655Asp)
c.898G>T
c.1765G>T
c.2724G>T (p.Glu908Asp)
c.2481G>T (p.Glu827Asp)
19g.7462229A>CCA403081100ARHGEF18c.1492A>C (p.Met498Leu)
c.1804A>C (p.Met602Leu)
c.2530A>C (p.Met844Leu)
c.1966A>C (p.Met656Leu)
c.899A>C
c.1766A>C
c.2725A>C (p.Met909Leu)
c.2482A>C (p.Met828Leu)
19g.7462229A>GCA403081101ARHGEF18c.1492A>G (p.Met498Val)
c.1804A>G (p.Met602Val)
c.2530A>G (p.Met844Val)
c.1966A>G (p.Met656Val)
c.899A>G
c.1766A>G
c.2725A>G (p.Met909Val)
c.2482A>G (p.Met828Val)
19g.7462229A>TCA403081099ARHGEF18c.1492A>T (p.Met498Leu)
c.1804A>T (p.Met602Leu)
c.2530A>T (p.Met844Leu)
c.1966A>T (p.Met656Leu)
c.899A>T
c.1766A>T
c.2725A>T (p.Met909Leu)
c.2482A>T (p.Met828Leu)
19g.7462230T>ACA403081102ARHGEF18c.1493T>A (p.Met498Lys)
c.1805T>A (p.Met602Lys)
c.2531T>A (p.Met844Lys)
c.1967T>A (p.Met656Lys)
c.900T>A
c.1767T>A
c.2726T>A (p.Met909Lys)
c.2483T>A (p.Met828Lys)
19g.7462230T>CCA403081103ARHGEF18c.1493T>C (p.Met498Thr)
c.1805T>C (p.Met602Thr)
c.2531T>C (p.Met844Thr)
c.1967T>C (p.Met656Thr)
c.900T>C
c.1767T>C
c.2726T>C (p.Met909Thr)
c.2483T>C (p.Met828Thr)
19g.7462230T>GCA403081104ARHGEF18c.1493T>G (p.Met498Arg)
c.1805T>G (p.Met602Arg)
c.2531T>G (p.Met844Arg)
c.1967T>G (p.Met656Arg)
c.900T>G
c.1767T>G
c.2726T>G (p.Met909Arg)
c.2483T>G (p.Met828Arg)
19g.7462231G>ACA403081105ARHGEF18c.1494G>A (p.Met498Ile)
c.1806G>A (p.Met602Ile)
c.2532G>A (p.Met844Ile)
c.1968G>A (p.Met656Ile)
c.901G>A
c.1768G>A
c.2727G>A (p.Met909Ile)
c.2484G>A (p.Met828Ile)
gnomAD v4
19g.7462231G>CCA9136890ARHGEF18c.1494G>C (p.Met498Ile)
c.1806G>C (p.Met602Ile)
c.2532G>C (p.Met844Ile)
c.1968G>C (p.Met656Ile)
c.901G>C
c.1768G>C
c.2727G>C (p.Met909Ile)
c.2484G>C (p.Met828Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.7462231G=CA2320929806ARHGEF18c.1494G= (p.Met498=)
c.1806G= (p.Met602=)
c.2532G= (p.Met844=)
c.1968G= (p.Met656=)
c.901G=
c.1768G=
c.2727G= (p.Met909=)
c.2484G= (p.Met828=)
19g.7462231G>TCA403081106ARHGEF18c.1494G>T (p.Met498Ile)
c.1806G>T (p.Met602Ile)
c.2532G>T (p.Met844Ile)
c.1968G>T (p.Met656Ile)
c.901G>T
c.1768G>T
c.2727G>T (p.Met909Ile)
c.2484G>T (p.Met828Ile)
19g.7462232G>ACA403081107ARHGEF18c.1495G>A (p.Gly499Ser)
c.1807G>A (p.Gly603Ser)
c.2533G>A (p.Gly845Ser)
c.1969G>A (p.Gly657Ser)
c.902G>A
c.1769G>A
c.2728G>A (p.Gly910Ser)
c.2485G>A (p.Gly829Ser)
19g.7462232G>CCA403081109ARHGEF18c.1495G>C (p.Gly499Arg)
c.1807G>C (p.Gly603Arg)
c.2533G>C (p.Gly845Arg)
c.1969G>C (p.Gly657Arg)
c.902G>C
c.1769G>C
c.2728G>C (p.Gly910Arg)
c.2485G>C (p.Gly829Arg)
19g.7462232G>TCA403081108ARHGEF18c.1495G>T (p.Gly499Cys)
c.1807G>T (p.Gly603Cys)
c.2533G>T (p.Gly845Cys)
c.1969G>T (p.Gly657Cys)
c.902G>T
c.1769G>T
c.2728G>T (p.Gly910Cys)
c.2485G>T (p.Gly829Cys)
19g.7462233G>ACA403081110ARHGEF18c.1496G>A (p.Gly499Asp)
c.1808G>A (p.Gly603Asp)
c.2534G>A (p.Gly845Asp)
c.1970G>A (p.Gly657Asp)
c.903G>A
c.1770G>A
c.2729G>A (p.Gly910Asp)
c.2486G>A (p.Gly829Asp)
gnomAD v4
19g.7462233G>CCA403081111ARHGEF18c.1496G>C (p.Gly499Ala)
c.1808G>C (p.Gly603Ala)
c.2534G>C (p.Gly845Ala)
c.1970G>C (p.Gly657Ala)
c.903G>C
c.1770G>C
c.2729G>C (p.Gly910Ala)
c.2486G>C (p.Gly829Ala)
19g.7462233G>TCA403081112ARHGEF18c.1496G>T (p.Gly499Val)
c.1808G>T (p.Gly603Val)
c.2534G>T (p.Gly845Val)
c.1970G>T (p.Gly657Val)
c.903G>T
c.1770G>T
c.2729G>T (p.Gly910Val)
c.2486G>T (p.Gly829Val)
19g.7462234C>ACA505218987ARHGEF18c.1497C>A (p.Gly499=)
c.1809C>A (p.Gly603=)
c.2535C>A (p.Gly845=)
c.1971C>A (p.Gly657=)
c.904C>A
c.1771C>A
c.2730C>A (p.Gly910=)
c.2487C>A (p.Gly829=)
19g.7462234C=CA2320929807ARHGEF18c.1497C= (p.Gly499=)
c.1809C= (p.Gly603=)
c.2535C= (p.Gly845=)
c.1971C= (p.Gly657=)
c.904C=
c.1771C=
c.2730C= (p.Gly910=)
c.2487C= (p.Gly829=)
19g.7462234C>GCA505218988ARHGEF18c.1497C>G (p.Gly499=)
c.1809C>G (p.Gly603=)
c.2535C>G (p.Gly845=)
c.1971C>G (p.Gly657=)
c.904C>G
c.1771C>G
c.2730C>G (p.Gly910=)
c.2487C>G (p.Gly829=)
gnomAD v4
19g.7462234C>TCA9136891ARHGEF18c.1497C>T (p.Gly499=)
c.1809C>T (p.Gly603=)
c.2535C>T (p.Gly845=)
c.1971C>T (p.Gly657=)
c.904C>T
c.1771C>T
c.2730C>T (p.Gly910=)
c.2487C>T (p.Gly829=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7462235G>ACA9136892ARHGEF18c.1498G>A (p.Gly500Ser)
c.1810G>A (p.Gly604Ser)
c.2536G>A (p.Gly846Ser)
c.1972G>A (p.Gly658Ser)
c.905G>A
c.1772G>A
c.2731G>A (p.Gly911Ser)
c.2488G>A (p.Gly830Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7462235G>CCA403081114ARHGEF18c.1498G>C (p.Gly500Arg)
c.1810G>C (p.Gly604Arg)
c.2536G>C (p.Gly846Arg)
c.1972G>C (p.Gly658Arg)
c.905G>C
c.1772G>C
c.2731G>C (p.Gly911Arg)
c.2488G>C (p.Gly830Arg)
19g.7462235G=CA2320929808ARHGEF18c.1498G= (p.Gly500=)
c.1810G= (p.Gly604=)
c.2536G= (p.Gly846=)
c.1972G= (p.Gly658=)
c.905G=
c.1772G=
c.2731G= (p.Gly911=)
c.2488G= (p.Gly830=)
19g.7462235G>TCA403081113ARHGEF18c.1498G>T (p.Gly500Cys)
c.1810G>T (p.Gly604Cys)
c.2536G>T (p.Gly846Cys)
c.1972G>T (p.Gly658Cys)
c.905G>T
c.1772G>T
c.2731G>T (p.Gly911Cys)
c.2488G>T (p.Gly830Cys)
19g.7462236G>ACA403081115ARHGEF18c.1499G>A (p.Gly500Asp)
c.1811G>A (p.Gly604Asp)
c.2537G>A (p.Gly846Asp)
c.1973G>A (p.Gly658Asp)
c.906G>A
c.1773G>A
c.2732G>A (p.Gly911Asp)
c.2489G>A (p.Gly830Asp)
19g.7462236G>CCA403081116ARHGEF18c.1499G>C (p.Gly500Ala)
c.1811G>C (p.Gly604Ala)
c.2537G>C (p.Gly846Ala)
c.1973G>C (p.Gly658Ala)
c.906G>C
c.1773G>C
c.2732G>C (p.Gly911Ala)
c.2489G>C (p.Gly830Ala)
dbSNP
19g.7462236G=CA2320929809ARHGEF18c.1499G= (p.Gly500=)
c.1811G= (p.Gly604=)
c.2537G= (p.Gly846=)
c.1973G= (p.Gly658=)
c.906G=
c.1773G=
c.2732G= (p.Gly911=)
c.2489G= (p.Gly830=)
19g.7462236G>TCA403081117ARHGEF18c.1499G>T (p.Gly500Val)
c.1811G>T (p.Gly604Val)
c.2537G>T (p.Gly846Val)
c.1973G>T (p.Gly658Val)
c.906G>T
c.1773G>T
c.2732G>T (p.Gly911Val)
c.2489G>T (p.Gly830Val)
19g.7462237C>ACA505218991ARHGEF18c.1500C>A (p.Gly500=)
c.1812C>A (p.Gly604=)
c.2538C>A (p.Gly846=)
c.1974C>A (p.Gly658=)
c.907C>A
c.1774C>A
c.2733C>A (p.Gly911=)
c.2490C>A (p.Gly830=)
19g.7462237C>GCA505218989ARHGEF18c.1500C>G (p.Gly500=)
c.1812C>G (p.Gly604=)
c.2538C>G (p.Gly846=)
c.1974C>G (p.Gly658=)
c.907C>G
c.1774C>G
c.2733C>G (p.Gly911=)
c.2490C>G (p.Gly830=)
19g.7462237C>TCA505218990ARHGEF18c.1500C>T (p.Gly500=)
c.1812C>T (p.Gly604=)
c.2538C>T (p.Gly846=)
c.1974C>T (p.Gly658=)
c.907C>T
c.1774C>T
c.2733C>T (p.Gly911=)
c.2490C>T (p.Gly830=)
gnomAD v4
19g.7462238C>ACA403081118ARHGEF18c.1501C>A (p.Leu501Ile)
c.1813C>A (p.Leu605Ile)
c.2539C>A (p.Leu847Ile)
c.1975C>A (p.Leu659Ile)
c.908C>A
c.1775C>A
c.2734C>A (p.Leu912Ile)
c.2491C>A (p.Leu831Ile)
19g.7462238C>GCA403081119ARHGEF18c.1501C>G (p.Leu501Val)
c.1813C>G (p.Leu605Val)
c.2539C>G (p.Leu847Val)
c.1975C>G (p.Leu659Val)
c.908C>G
c.1775C>G
c.2734C>G (p.Leu912Val)
c.2491C>G (p.Leu831Val)
19g.7462238C>TCA403081120ARHGEF18c.1501C>T (p.Leu501Phe)
c.1813C>T (p.Leu605Phe)
c.2539C>T (p.Leu847Phe)
c.1975C>T (p.Leu659Phe)
c.908C>T
c.1775C>T
c.2734C>T (p.Leu912Phe)
c.2491C>T (p.Leu831Phe)
gnomAD v4
19g.7462239T>ACA403081121ARHGEF18c.1502T>A (p.Leu501His)
c.1814T>A (p.Leu605His)
c.2540T>A (p.Leu847His)
c.1976T>A (p.Leu659His)
c.909T>A
c.1776T>A
c.2735T>A (p.Leu912His)
c.2492T>A (p.Leu831His)
19g.7462239T>CCA403081122ARHGEF18c.1502T>C (p.Leu501Pro)
c.1814T>C (p.Leu605Pro)
c.2540T>C (p.Leu847Pro)
c.1976T>C (p.Leu659Pro)
c.909T>C
c.1776T>C
c.2735T>C (p.Leu912Pro)
c.2492T>C (p.Leu831Pro)
gnomAD v4
19g.7462239T>GCA403081123ARHGEF18c.1502T>G (p.Leu501Arg)
c.1814T>G (p.Leu605Arg)
c.2540T>G (p.Leu847Arg)
c.1976T>G (p.Leu659Arg)
c.909T>G
c.1776T>G
c.2735T>G (p.Leu912Arg)
c.2492T>G (p.Leu831Arg)
19g.7462240C>ACA505218992ARHGEF18c.1503C>A (p.Leu501=)
c.1815C>A (p.Leu605=)
c.2541C>A (p.Leu847=)
c.1977C>A (p.Leu659=)
c.910C>A
c.1777C>A
c.2736C>A (p.Leu912=)
c.2493C>A (p.Leu831=)
gnomAD v4
19g.7462240C=CA2320929810ARHGEF18c.1503C= (p.Leu501=)
c.1815C= (p.Leu605=)
c.2541C= (p.Leu847=)
c.1977C= (p.Leu659=)
c.910C=
c.1777C=
c.2736C= (p.Leu912=)
c.2493C= (p.Leu831=)
19g.7462240C>GCA9136894ARHGEF18c.1503C>G (p.Leu501=)
c.1815C>G (p.Leu605=)
c.2541C>G (p.Leu847=)
c.1977C>G (p.Leu659=)
c.910C>G
c.1777C>G
c.2736C>G (p.Leu912=)
c.2493C>G (p.Leu831=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7462240C>TCA9136893ARHGEF18c.1503C>T (p.Leu501=)
c.1815C>T (p.Leu605=)
c.2541C>T (p.Leu847=)
c.1977C>T (p.Leu659=)
c.910C>T
c.1777C>T
c.2736C>T (p.Leu912=)
c.2493C>T (p.Leu831=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7462241G>ACA9136895ARHGEF18c.1504G>A (p.Glu502Lys)
c.1816G>A (p.Glu606Lys)
c.2542G>A (p.Glu848Lys)
c.1978G>A (p.Glu660Lys)
c.911G>A
c.1778G>A
c.2737G>A (p.Glu913Lys)
c.2494G>A (p.Glu832Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7462241G>CCA403081127ARHGEF18c.1504G>C (p.Glu502Gln)
c.1816G>C (p.Glu606Gln)
c.2542G>C (p.Glu848Gln)
c.1978G>C (p.Glu660Gln)
c.911G>C
c.1778G>C
c.2737G>C (p.Glu913Gln)
c.2494G>C (p.Glu832Gln)
ClinVar dbSNP
19g.7462241G=CA2320929811ARHGEF18c.1504G= (p.Glu502=)
c.1816G= (p.Glu606=)
c.2542G= (p.Glu848=)
c.1978G= (p.Glu660=)
c.911G=
c.1778G=
c.2737G= (p.Glu913=)
c.2494G= (p.Glu832=)
19g.7462241G>TCA403081126ARHGEF18c.1504G>T (p.Glu502Ter)
c.1816G>T (p.Glu606Ter)
c.2542G>T (p.Glu848Ter)
c.1978G>T (p.Glu660Ter)
c.911G>T
c.1778G>T
c.2737G>T (p.Glu913Ter)
c.2494G>T (p.Glu832Ter)
19g.7462242A>CCA403081130ARHGEF18c.1505A>C (p.Glu502Ala)
c.1817A>C (p.Glu606Ala)
c.2543A>C (p.Glu848Ala)
c.1979A>C (p.Glu660Ala)
c.912A>C
c.1779A>C
c.2738A>C (p.Glu913Ala)
c.2495A>C (p.Glu832Ala)
19g.7462242A>GCA403081133ARHGEF18c.1505A>G (p.Glu502Gly)
c.1817A>G (p.Glu606Gly)
c.2543A>G (p.Glu848Gly)
c.1979A>G (p.Glu660Gly)
c.912A>G
c.1779A>G
c.2738A>G (p.Glu913Gly)
c.2495A>G (p.Glu832Gly)
gnomAD v4
19g.7462242A>TCA403081131ARHGEF18c.1505A>T (p.Glu502Val)
c.1817A>T (p.Glu606Val)
c.2543A>T (p.Glu848Val)
c.1979A>T (p.Glu660Val)
c.912A>T
c.1779A>T
c.2738A>T (p.Glu913Val)
c.2495A>T (p.Glu832Val)
19g.7462243A>CCA403081134ARHGEF18c.1506A>C (p.Glu502Asp)
c.1818A>C (p.Glu606Asp)
c.2544A>C (p.Glu848Asp)
c.1980A>C (p.Glu660Asp)
c.913A>C
c.1780A>C
c.2739A>C (p.Glu913Asp)
c.2496A>C (p.Glu832Asp)
19g.7462243A>GCA505218993ARHGEF18c.1506A>G (p.Glu502=)
c.1818A>G (p.Glu606=)
c.2544A>G (p.Glu848=)
c.1980A>G (p.Glu660=)
c.913A>G
c.1780A>G
c.2739A>G (p.Glu913=)
c.2496A>G (p.Glu832=)
ClinVar dbSNP
19g.7462243A>TCA403081136ARHGEF18c.1506A>T (p.Glu502Asp)
c.1818A>T (p.Glu606Asp)
c.2544A>T (p.Glu848Asp)
c.1980A>T (p.Glu660Asp)
c.913A>T
c.1780A>T
c.2739A>T (p.Glu913Asp)
c.2496A>T (p.Glu832Asp)
19g.7462244G>ACA403081138ARHGEF18c.1507G>A (p.Asp503Asn)
c.1819G>A (p.Asp607Asn)
c.2545G>A (p.Asp849Asn)
c.1981G>A (p.Asp661Asn)
c.914G>A
c.1781G>A
c.2740G>A (p.Asp914Asn)
c.2497G>A (p.Asp833Asn)
19g.7462244G>CCA403081140ARHGEF18c.1507G>C (p.Asp503His)
c.1819G>C (p.Asp607His)
c.2545G>C (p.Asp849His)
c.1981G>C (p.Asp661His)
c.914G>C
c.1781G>C
c.2740G>C (p.Asp914His)
c.2497G>C (p.Asp833His)
19g.7462244G>TCA403081141ARHGEF18c.1507G>T (p.Asp503Tyr)
c.1819G>T (p.Asp607Tyr)
c.2545G>T (p.Asp849Tyr)
c.1981G>T (p.Asp661Tyr)
c.914G>T
c.1781G>T
c.2740G>T (p.Asp914Tyr)
c.2497G>T (p.Asp833Tyr)
19g.7462245A=CA2320929812ARHGEF18c.1508A= (p.Asp503=)
c.1820A= (p.Asp607=)
c.2546A= (p.Asp849=)
c.1982A= (p.Asp661=)
c.915A=
c.1782A=
c.2741A= (p.Asp914=)
c.2498A= (p.Asp833=)
19g.7462245A>CCA403081143ARHGEF18c.1508A>C (p.Asp503Ala)
c.1820A>C (p.Asp607Ala)
c.2546A>C (p.Asp849Ala)
c.1982A>C (p.Asp661Ala)
c.915A>C
c.1782A>C
c.2741A>C (p.Asp914Ala)
c.2498A>C (p.Asp833Ala)
dbSNP gnomAD v2
19g.7462245A>GCA403081145ARHGEF18c.1508A>G (p.Asp503Gly)
c.1820A>G (p.Asp607Gly)
c.2546A>G (p.Asp849Gly)
c.1982A>G (p.Asp661Gly)
c.915A>G
c.1782A>G
c.2741A>G (p.Asp914Gly)
c.2498A>G (p.Asp833Gly)
19g.7462245A>TCA403081147ARHGEF18c.1508A>T (p.Asp503Val)
c.1820A>T (p.Asp607Val)
c.2546A>T (p.Asp849Val)
c.1982A>T (p.Asp661Val)
c.915A>T
c.1782A>T
c.2741A>T (p.Asp914Val)
c.2498A>T (p.Asp833Val)
19g.7462246C>ACA9136896ARHGEF18c.1509C>A (p.Asp503Glu)
c.1821C>A (p.Asp607Glu)
c.2547C>A (p.Asp849Glu)
c.1983C>A (p.Asp661Glu)
c.916C>A
c.1783C>A
c.2742C>A (p.Asp914Glu)
c.2499C>A (p.Asp833Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.7462246C=CA2320929813ARHGEF18c.1509C= (p.Asp503=)
c.1821C= (p.Asp607=)
c.2547C= (p.Asp849=)
c.1983C= (p.Asp661=)
c.916C=
c.1783C=
c.2742C= (p.Asp914=)
c.2499C= (p.Asp833=)
19g.7462246C>GCA403081151ARHGEF18c.1509C>G (p.Asp503Glu)
c.1821C>G (p.Asp607Glu)
c.2547C>G (p.Asp849Glu)
c.1983C>G (p.Asp661Glu)
c.916C>G
c.1783C>G
c.2742C>G (p.Asp914Glu)
c.2499C>G (p.Asp833Glu)
19g.7462246C>TCA505218994ARHGEF18c.1509C>T (p.Asp503=)
c.1821C>T (p.Asp607=)
c.2547C>T (p.Asp849=)
c.1983C>T (p.Asp661=)
c.916C>T
c.1783C>T
c.2742C>T (p.Asp914=)
c.2499C>T (p.Asp833=)
19g.7462247C>ACA403081153ARHGEF18c.1510C>A (p.Leu504Met)
c.1822C>A (p.Leu608Met)
c.2548C>A (p.Leu850Met)
c.1984C>A (p.Leu662Met)
c.917C>A
c.1784C>A
c.2743C>A (p.Leu915Met)
c.2500C>A (p.Leu834Met)
19g.7462247C=CA2320929814ARHGEF18c.1510C= (p.Leu504=)
c.1822C= (p.Leu608=)
c.2548C= (p.Leu850=)
c.1984C= (p.Leu662=)
c.917C=
c.1784C=
c.2743C= (p.Leu915=)
c.2500C= (p.Leu834=)
19g.7462247C>GCA403081155ARHGEF18c.1510C>G (p.Leu504Val)
c.1822C>G (p.Leu608Val)
c.2548C>G (p.Leu850Val)
c.1984C>G (p.Leu662Val)
c.917C>G
c.1784C>G
c.2743C>G (p.Leu915Val)
c.2500C>G (p.Leu834Val)
dbSNP gnomAD v4
19g.7462247C>TCA505218995ARHGEF18c.1510C>T (p.Leu504=)
c.1822C>T (p.Leu608=)
c.2548C>T (p.Leu850=)
c.1984C>T (p.Leu662=)
c.917C>T
c.1784C>T
c.2743C>T (p.Leu915=)
c.2500C>T (p.Leu834=)
19g.7462248T>ACA403081160ARHGEF18c.1511T>A (p.Leu504Gln)
c.1823T>A (p.Leu608Gln)
c.2549T>A (p.Leu850Gln)
c.1985T>A (p.Leu662Gln)
c.918T>A
c.1785T>A
c.2744T>A (p.Leu915Gln)
c.2501T>A (p.Leu834Gln)
19g.7462248T>CCA403081157ARHGEF18c.1511T>C (p.Leu504Pro)
c.1823T>C (p.Leu608Pro)
c.2549T>C (p.Leu850Pro)
c.1985T>C (p.Leu662Pro)
c.918T>C
c.1785T>C
c.2744T>C (p.Leu915Pro)
c.2501T>C (p.Leu834Pro)
19g.7462248T>GCA403081159ARHGEF18c.1511T>G (p.Leu504Arg)
c.1823T>G (p.Leu608Arg)
c.2549T>G (p.Leu850Arg)
c.1985T>G (p.Leu662Arg)
c.918T>G
c.1785T>G
c.2744T>G (p.Leu915Arg)
c.2501T>G (p.Leu834Arg)
19g.7462249G>ACA505218996ARHGEF18c.1512G>A (p.Leu504=)
c.1824G>A (p.Leu608=)
c.2550G>A (p.Leu850=)
c.1986G>A (p.Leu662=)
c.919G>A
c.1786G>A
c.2745G>A (p.Leu915=)
c.2502G>A (p.Leu834=)
19g.7462249G>CCA505218997ARHGEF18c.1512G>C (p.Leu504=)
c.1824G>C (p.Leu608=)
c.2550G>C (p.Leu850=)
c.1986G>C (p.Leu662=)
c.919G>C
c.1786G>C
c.2745G>C (p.Leu915=)
c.2502G>C (p.Leu834=)
dbSNP gnomAD v3 gnomAD v4
19g.7462249G=CA2320929815ARHGEF18c.1512G= (p.Leu504=)
c.1824G= (p.Leu608=)
c.2550G= (p.Leu850=)
c.1986G= (p.Leu662=)
c.919G=
c.1786G=
c.2745G= (p.Leu915=)
c.2502G= (p.Leu834=)
19g.7462249G>TCA505218998ARHGEF18c.1512G>T (p.Leu504=)
c.1824G>T (p.Leu608=)
c.2550G>T (p.Leu850=)
c.1986G>T (p.Leu662=)
c.919G>T
c.1786G>T
c.2745G>T (p.Leu915=)
c.2502G>T (p.Leu834=)
gnomAD v4
19g.7462250C>ACA403081163ARHGEF18c.1513C>A (p.Pro505Thr)
c.1825C>A (p.Pro609Thr)
c.2551C>A (p.Pro851Thr)
c.1987C>A (p.Pro663Thr)
c.920C>A
c.1787C>A
c.2746C>A (p.Pro916Thr)
c.2503C>A (p.Pro835Thr)
19g.7462250C>GCA403081165ARHGEF18c.1513C>G (p.Pro505Ala)
c.1825C>G (p.Pro609Ala)
c.2551C>G (p.Pro851Ala)
c.1987C>G (p.Pro663Ala)
c.920C>G
c.1787C>G
c.2746C>G (p.Pro916Ala)
c.2503C>G (p.Pro835Ala)
19g.7462250C>TCA403081166ARHGEF18c.1513C>T (p.Pro505Ser)
c.1825C>T (p.Pro609Ser)
c.2551C>T (p.Pro851Ser)
c.1987C>T (p.Pro663Ser)
c.920C>T
c.1787C>T
c.2746C>T (p.Pro916Ser)
c.2503C>T (p.Pro835Ser)
19g.7462251C>ACA403081168ARHGEF18c.1514C>A (p.Pro505His)
c.1826C>A (p.Pro609His)
c.2552C>A (p.Pro851His)
c.1988C>A (p.Pro663His)
c.921C>A
c.1788C>A
c.2747C>A (p.Pro916His)
c.2504C>A (p.Pro835His)
19g.7462251C=CA2320929816ARHGEF18c.1514C= (p.Pro505=)
c.1826C= (p.Pro609=)
c.2552C= (p.Pro851=)
c.1988C= (p.Pro663=)
c.921C=
c.1788C=
c.2747C= (p.Pro916=)
c.2504C= (p.Pro835=)
19g.7462251C>GCA9136897ARHGEF18c.1514C>G (p.Pro505Arg)
c.1826C>G (p.Pro609Arg)
c.2552C>G (p.Pro851Arg)
c.1988C>G (p.Pro663Arg)
c.921C>G
c.1788C>G
c.2747C>G (p.Pro916Arg)
c.2504C>G (p.Pro835Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7462251C>TCA403081170ARHGEF18c.1514C>T (p.Pro505Leu)
c.1826C>T (p.Pro609Leu)
c.2552C>T (p.Pro851Leu)
c.1988C>T (p.Pro663Leu)
c.921C>T
c.1788C>T
c.2747C>T (p.Pro916Leu)
c.2504C>T (p.Pro835Leu)
19g.7462252C>ACA505218999ARHGEF18c.1515C>A (p.Pro505=)
c.1827C>A (p.Pro609=)
c.2553C>A (p.Pro851=)
c.1989C>A (p.Pro663=)
c.922C>A
c.1789C>A
c.2748C>A (p.Pro916=)
c.2505C>A (p.Pro835=)
19g.7462252C=CA2320929817ARHGEF18c.1515C= (p.Pro505=)
c.1827C= (p.Pro609=)
c.2553C= (p.Pro851=)
c.1989C= (p.Pro663=)
c.922C=
c.1789C=
c.2748C= (p.Pro916=)
c.2505C= (p.Pro835=)
19g.7462252C>GCA505219000ARHGEF18c.1515C>G (p.Pro505=)
c.1827C>G (p.Pro609=)
c.2553C>G (p.Pro851=)
c.1989C>G (p.Pro663=)
c.922C>G
c.1789C>G
c.2748C>G (p.Pro916=)
c.2505C>G (p.Pro835=)
19g.7462252C>TCA505219001ARHGEF18c.1515C>T (p.Pro505=)
c.1827C>T (p.Pro609=)
c.2553C>T (p.Pro851=)
c.1989C>T (p.Pro663=)
c.922C>T
c.1789C>T
c.2748C>T (p.Pro916=)
c.2505C>T (p.Pro835=)
dbSNP gnomAD v4
19g.7462253C>ACA403081171ARHGEF18c.1516C>A (p.Gln506Lys)
c.1828C>A (p.Gln610Lys)
c.2554C>A (p.Gln852Lys)
c.1990C>A (p.Gln664Lys)
c.923C>A
c.1790C>A
c.2749C>A (p.Gln917Lys)
c.2506C>A (p.Gln836Lys)
19g.7462253C=CA2320929818ARHGEF18c.1516C= (p.Gln506=)
c.1828C= (p.Gln610=)
c.2554C= (p.Gln852=)
c.1990C= (p.Gln664=)
c.923C=
c.1790C=
c.2749C= (p.Gln917=)
c.2506C= (p.Gln836=)
19g.7462253C>GCA9136898ARHGEF18c.1516C>G (p.Gln506Glu)
c.1828C>G (p.Gln610Glu)
c.2554C>G (p.Gln852Glu)
c.1990C>G (p.Gln664Glu)
c.923C>G
c.1790C>G
c.2749C>G (p.Gln917Glu)
c.2506C>G (p.Gln836Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7462253C>TCA403081172ARHGEF18c.1516C>T (p.Gln506Ter)
c.1828C>T (p.Gln610Ter)
c.2554C>T (p.Gln852Ter)
c.1990C>T (p.Gln664Ter)
c.923C>T
c.1790C>T
c.2749C>T (p.Gln917Ter)
c.2506C>T (p.Gln836Ter)
19g.7462254A=CA2320929819ARHGEF18c.1517A= (p.Gln506=)
c.1829A= (p.Gln610=)
c.2555A= (p.Gln852=)
c.1991A= (p.Gln664=)
c.924A=
c.1791A=
c.2750A= (p.Gln917=)
c.2507A= (p.Gln836=)
19g.7462254A>CCA9136900ARHGEF18c.1517A>C (p.Gln506Pro)
c.1829A>C (p.Gln610Pro)
c.2555A>C (p.Gln852Pro)
c.1991A>C (p.Gln664Pro)
c.924A>C
c.1791A>C
c.2750A>C (p.Gln917Pro)
c.2507A>C (p.Gln836Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7462254A>GCA9136899ARHGEF18c.1517A>G (p.Gln506Arg)
c.1829A>G (p.Gln610Arg)
c.2555A>G (p.Gln852Arg)
c.1991A>G (p.Gln664Arg)
c.924A>G
c.1791A>G
c.2750A>G (p.Gln917Arg)
c.2507A>G (p.Gln836Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.7462254A>TCA403081173ARHGEF18c.1517A>T (p.Gln506Leu)
c.1829A>T (p.Gln610Leu)
c.2555A>T (p.Gln852Leu)
c.1991A>T (p.Gln664Leu)
c.924A>T
c.1791A>T
c.2750A>T (p.Gln917Leu)
c.2507A>T (p.Gln836Leu)
19g.7462255G>ACA505219002ARHGEF18c.1518G>A (p.Gln506=)
c.1830G>A (p.Gln610=)
c.2556G>A (p.Gln852=)
c.1992G>A (p.Gln664=)
c.925G>A
c.1792G>A
c.2751G>A (p.Gln917=)
c.2508G>A (p.Gln836=)
19g.7462255G>CCA403081174ARHGEF18c.1518G>C (p.Gln506His)
c.1830G>C (p.Gln610His)
c.2556G>C (p.Gln852His)
c.1992G>C (p.Gln664His)
c.925G>C
c.1792G>C
c.2751G>C (p.Gln917His)
c.2508G>C (p.Gln836His)
19g.7462255G>TCA403081175ARHGEF18c.1518G>T (p.Gln506His)
c.1830G>T (p.Gln610His)
c.2556G>T (p.Gln852His)
c.1992G>T (p.Gln664His)
c.925G>T
c.1792G>T
c.2751G>T (p.Gln917His)
c.2508G>T (p.Gln836His)
19g.7462256C>ACA403081176ARHGEF18c.1519C>A (p.Pro507Thr)
c.1831C>A (p.Pro611Thr)
c.2557C>A (p.Pro853Thr)
c.1993C>A (p.Pro665Thr)
c.926C>A
c.1793C>A
c.2752C>A (p.Pro918Thr)
c.2509C>A (p.Pro837Thr)
19g.7462256C>GCA403081177ARHGEF18c.1519C>G (p.Pro507Ala)
c.1831C>G (p.Pro611Ala)
c.2557C>G (p.Pro853Ala)
c.1993C>G (p.Pro665Ala)
c.926C>G
c.1793C>G
c.2752C>G (p.Pro918Ala)
c.2509C>G (p.Pro837Ala)
19g.7462256C>TCA403081178ARHGEF18c.1519C>T (p.Pro507Ser)
c.1831C>T (p.Pro611Ser)
c.2557C>T (p.Pro853Ser)
c.1993C>T (p.Pro665Ser)
c.926C>T
c.1793C>T
c.2752C>T (p.Pro918Ser)
c.2509C>T (p.Pro837Ser)
19g.7462257C>ACA403081179ARHGEF18c.1520C>A (p.Pro507His)
c.1832C>A (p.Pro611His)
c.2558C>A (p.Pro853His)
c.1994C>A (p.Pro665His)
c.927C>A
c.1794C>A
c.2753C>A (p.Pro918His)
c.2510C>A (p.Pro837His)
19g.7462257C=CA2320929820ARHGEF18c.1520C= (p.Pro507=)
c.1832C= (p.Pro611=)
c.2558C= (p.Pro853=)
c.1994C= (p.Pro665=)
c.927C=
c.1794C=
c.2753C= (p.Pro918=)
c.2510C= (p.Pro837=)
19g.7462257C>GCA403081180ARHGEF18c.1520C>G (p.Pro507Arg)
c.1832C>G (p.Pro611Arg)
c.2558C>G (p.Pro853Arg)
c.1994C>G (p.Pro665Arg)
c.927C>G
c.1794C>G
c.2753C>G (p.Pro918Arg)
c.2510C>G (p.Pro837Arg)
19g.7462257C>TCA9136901ARHGEF18c.1520C>T (p.Pro507Leu)
c.1832C>T (p.Pro611Leu)
c.2558C>T (p.Pro853Leu)
c.1994C>T (p.Pro665Leu)
c.927C>T
c.1794C>T
c.2753C>T (p.Pro918Leu)
c.2510C>T (p.Pro837Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.7462258C>ACA505219005ARHGEF18c.1521C>A (p.Pro507=)
c.1833C>A (p.Pro611=)
c.2559C>A (p.Pro853=)
c.1995C>A (p.Pro665=)
c.928C>A
c.1795C>A
c.2754C>A (p.Pro918=)
c.2511C>A (p.Pro837=)
19g.7462258C>GCA505219004ARHGEF18c.1521C>G (p.Pro507=)
c.1833C>G (p.Pro611=)
c.2559C>G (p.Pro853=)
c.1995C>G (p.Pro665=)
c.928C>G
c.1795C>G
c.2754C>G (p.Pro918=)
c.2511C>G (p.Pro837=)
19g.7462258C>TCA505219003ARHGEF18c.1521C>T (p.Pro507=)
c.1833C>T (p.Pro611=)
c.2559C>T (p.Pro853=)
c.1995C>T (p.Pro665=)
c.928C>T
c.1795C>T
c.2754C>T (p.Pro918=)
c.2511C>T (p.Pro837=)
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=)

Number of alleles fetched