Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.7462155_7462162delCA920050131ARHGEF18c.1418_1425del
c.1730_1737del
c.2456_2463del
c.1892_1899del
c.825_832del
c.1692_1699del
c.2651_2658del
c.2408_2415del
dbSNP gnomAD v4
19g.7462159G>ACA9136874ARHGEF18c.1422G>A (p.Leu474=)
c.1734G>A (p.Leu578=)
c.2460G>A (p.Leu820=)
c.1896G>A (p.Leu632=)
c.829G>A
c.1696G>A
c.2655G>A (p.Leu885=)
c.2412G>A (p.Leu804=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7462159G>CCA403080561ARHGEF18c.1422G>C (p.Leu474Phe)
c.1734G>C (p.Leu578Phe)
c.2460G>C (p.Leu820Phe)
c.1896G>C (p.Leu632Phe)
c.829G>C
c.1696G>C
c.2655G>C (p.Leu885Phe)
c.2412G>C (p.Leu804Phe)
19g.7462159G=CA2320929713ARHGEF18c.1422G= (p.Leu474=)
c.1734G= (p.Leu578=)
c.2460G= (p.Leu820=)
c.1896G= (p.Leu632=)
c.829G=
c.1696G=
c.2655G= (p.Leu885=)
c.2412G= (p.Leu804=)
19g.7462159G>TCA9136875ARHGEF18c.1422G>T (p.Leu474Phe)
c.1734G>T (p.Leu578Phe)
c.2460G>T (p.Leu820Phe)
c.1896G>T (p.Leu632Phe)
c.829G>T
c.1696G>T
c.2655G>T (p.Leu885Phe)
c.2412G>T (p.Leu804Phe)
dbSNP ExAC gnomAD v2
19g.7462160A>CCA403080562ARHGEF18c.1423A>C (p.Ser475Arg)
c.1735A>C (p.Ser579Arg)
c.2461A>C (p.Ser821Arg)
c.1897A>C (p.Ser633Arg)
c.830A>C
c.1697A>C
c.2656A>C (p.Ser886Arg)
c.2413A>C (p.Ser805Arg)
19g.7462160A>GCA403080563ARHGEF18c.1423A>G (p.Ser475Gly)
c.1735A>G (p.Ser579Gly)
c.2461A>G (p.Ser821Gly)
c.1897A>G (p.Ser633Gly)
c.830A>G
c.1697A>G
c.2656A>G (p.Ser886Gly)
c.2413A>G (p.Ser805Gly)
19g.7462160A>TCA403080564ARHGEF18c.1423A>T (p.Ser475Cys)
c.1735A>T (p.Ser579Cys)
c.2461A>T (p.Ser821Cys)
c.1897A>T (p.Ser633Cys)
c.830A>T
c.1697A>T
c.2656A>T (p.Ser886Cys)
c.2413A>T (p.Ser805Cys)
19g.7462161G>ACA403080565ARHGEF18c.1424G>A (p.Ser475Asn)
c.1736G>A (p.Ser579Asn)
c.2462G>A (p.Ser821Asn)
c.1898G>A (p.Ser633Asn)
c.831G>A
c.1698G>A
c.2657G>A (p.Ser886Asn)
c.2414G>A (p.Ser805Asn)
19g.7462161G>CCA403080566ARHGEF18c.1424G>C (p.Ser475Thr)
c.1736G>C (p.Ser579Thr)
c.2462G>C (p.Ser821Thr)
c.1898G>C (p.Ser633Thr)
c.831G>C
c.1698G>C
c.2657G>C (p.Ser886Thr)
c.2414G>C (p.Ser805Thr)
19g.7462161G>TCA403080567ARHGEF18c.1424G>T (p.Ser475Ile)
c.1736G>T (p.Ser579Ile)
c.2462G>T (p.Ser821Ile)
c.1898G>T (p.Ser633Ile)
c.831G>T
c.1698G>T
c.2657G>T (p.Ser886Ile)
c.2414G>T (p.Ser805Ile)
19g.7462162C>ACA403080568ARHGEF18c.1425C>A (p.Ser475Arg)
c.1737C>A (p.Ser579Arg)
c.2463C>A (p.Ser821Arg)
c.1899C>A (p.Ser633Arg)
c.832C>A
c.1699C>A
c.2658C>A (p.Ser886Arg)
c.2415C>A (p.Ser805Arg)
19g.7462162C>GCA403080569ARHGEF18c.1425C>G (p.Ser475Arg)
c.1737C>G (p.Ser579Arg)
c.2463C>G (p.Ser821Arg)
c.1899C>G (p.Ser633Arg)
c.832C>G
c.1699C>G
c.2658C>G (p.Ser886Arg)
c.2415C>G (p.Ser805Arg)
19g.7462162C>TCA505218954ARHGEF18c.1425C>T (p.Ser475=)
c.1737C>T (p.Ser579=)
c.2463C>T (p.Ser821=)
c.1899C>T (p.Ser633=)
c.832C>T
c.1699C>T
c.2658C>T (p.Ser886=)
c.2415C>T (p.Ser805=)
19g.7462164_7462173delCA2576596091ARHGEF18c.1427_1436del (p.Met476SerfsTer2)
c.1739_1748del (p.Met580SerfsTer2)
c.2465_2474del (p.Met822SerfsTer2)
c.1901_1910del (p.Met634SerfsTer2)
c.834_843del
c.1701_1710del
c.2660_2669del (p.Met887SerfsTer2)
c.2417_2426del (p.Met806SerfsTer2)
19g.7462163A=CA2320929733ARHGEF18c.1426A= (p.Met476=)
c.1738A= (p.Met580=)
c.2464A= (p.Met822=)
c.1900A= (p.Met634=)
c.833A=
c.1700A=
c.2659A= (p.Met887=)
c.2416A= (p.Met806=)
19g.7462163A>CCA403080570ARHGEF18c.1426A>C (p.Met476Leu)
c.1738A>C (p.Met580Leu)
c.2464A>C (p.Met822Leu)
c.1900A>C (p.Met634Leu)
c.833A>C
c.1700A>C
c.2659A>C (p.Met887Leu)
c.2416A>C (p.Met806Leu)
19g.7462163A>GCA9136876ARHGEF18c.1426A>G (p.Met476Val)
c.1738A>G (p.Met580Val)
c.2464A>G (p.Met822Val)
c.1900A>G (p.Met634Val)
c.833A>G
c.1700A>G
c.2659A>G (p.Met887Val)
c.2416A>G (p.Met806Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7462163A>TCA403080571ARHGEF18c.1426A>T (p.Met476Leu)
c.1738A>T (p.Met580Leu)
c.2464A>T (p.Met822Leu)
c.1900A>T (p.Met634Leu)
c.833A>T
c.1700A>T
c.2659A>T (p.Met887Leu)
c.2416A>T (p.Met806Leu)
19g.7462164T>ACA403080573ARHGEF18c.1427T>A (p.Met476Lys)
c.1739T>A (p.Met580Lys)
c.2465T>A (p.Met822Lys)
c.1901T>A (p.Met634Lys)
c.834T>A
c.1701T>A
c.2660T>A (p.Met887Lys)
c.2417T>A (p.Met806Lys)
19g.7462164T>CCA403080574ARHGEF18c.1427T>C (p.Met476Thr)
c.1739T>C (p.Met580Thr)
c.2465T>C (p.Met822Thr)
c.1901T>C (p.Met634Thr)
c.834T>C
c.1701T>C
c.2660T>C (p.Met887Thr)
c.2417T>C (p.Met806Thr)
19g.7462164T>GCA403080572ARHGEF18c.1427T>G (p.Met476Arg)
c.1739T>G (p.Met580Arg)
c.2465T>G (p.Met822Arg)
c.1901T>G (p.Met634Arg)
c.834T>G
c.1701T>G
c.2660T>G (p.Met887Arg)
c.2417T>G (p.Met806Arg)
19g.7462165G>ACA9136877ARHGEF18c.1428G>A (p.Met476Ile)
c.1740G>A (p.Met580Ile)
c.2466G>A (p.Met822Ile)
c.1902G>A (p.Met634Ile)
c.835G>A
c.1702G>A
c.2661G>A (p.Met887Ile)
c.2418G>A (p.Met806Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7462165G>CCA403080575ARHGEF18c.1428G>C (p.Met476Ile)
c.1740G>C (p.Met580Ile)
c.2466G>C (p.Met822Ile)
c.1902G>C (p.Met634Ile)
c.835G>C
c.1702G>C
c.2661G>C (p.Met887Ile)
c.2418G>C (p.Met806Ile)
gnomAD v4
19g.7462165G=CA2320929738ARHGEF18c.1428G= (p.Met476=)
c.1740G= (p.Met580=)
c.2466G= (p.Met822=)
c.1902G= (p.Met634=)
c.835G=
c.1702G=
c.2661G= (p.Met887=)
c.2418G= (p.Met806=)
19g.7462165G>TCA403080576ARHGEF18c.1428G>T (p.Met476Ile)
c.1740G>T (p.Met580Ile)
c.2466G>T (p.Met822Ile)
c.1902G>T (p.Met634Ile)
c.835G>T
c.1702G>T
c.2661G>T (p.Met887Ile)
c.2418G>T (p.Met806Ile)
19g.7462166A>CCA403080577ARHGEF18c.1429A>C (p.Lys477Gln)
c.1741A>C (p.Lys581Gln)
c.2467A>C (p.Lys823Gln)
c.1903A>C (p.Lys635Gln)
c.836A>C
c.1703A>C
c.2662A>C (p.Lys888Gln)
c.2419A>C (p.Lys807Gln)
19g.7462166A>GCA403080578ARHGEF18c.1429A>G (p.Lys477Glu)
c.1741A>G (p.Lys581Glu)
c.2467A>G (p.Lys823Glu)
c.1903A>G (p.Lys635Glu)
c.836A>G
c.1703A>G
c.2662A>G (p.Lys888Glu)
c.2419A>G (p.Lys807Glu)
19g.7462166A>TCA403080579ARHGEF18c.1429A>T (p.Lys477Ter)
c.1741A>T (p.Lys581Ter)
c.2467A>T (p.Lys823Ter)
c.1903A>T (p.Lys635Ter)
c.836A>T
c.1703A>T
c.2662A>T (p.Lys888Ter)
c.2419A>T (p.Lys807Ter)
19g.7462167A>CCA403080580ARHGEF18c.1430A>C (p.Lys477Thr)
c.1742A>C (p.Lys581Thr)
c.2468A>C (p.Lys823Thr)
c.1904A>C (p.Lys635Thr)
c.837A>C
c.1704A>C
c.2663A>C (p.Lys888Thr)
c.2420A>C (p.Lys807Thr)
19g.7462167A>GCA403080581ARHGEF18c.1430A>G (p.Lys477Arg)
c.1742A>G (p.Lys581Arg)
c.2468A>G (p.Lys823Arg)
c.1904A>G (p.Lys635Arg)
c.837A>G
c.1704A>G
c.2663A>G (p.Lys888Arg)
c.2420A>G (p.Lys807Arg)
19g.7462167A>TCA403080582ARHGEF18c.1430A>T (p.Lys477Ile)
c.1742A>T (p.Lys581Ile)
c.2468A>T (p.Lys823Ile)
c.1904A>T (p.Lys635Ile)
c.837A>T
c.1704A>T
c.2663A>T (p.Lys888Ile)
c.2420A>T (p.Lys807Ile)
19g.7462168A>CCA403080583ARHGEF18c.1431A>C (p.Lys477Asn)
c.1743A>C (p.Lys581Asn)
c.2469A>C (p.Lys823Asn)
c.1905A>C (p.Lys635Asn)
c.838A>C
c.1705A>C
c.2664A>C (p.Lys888Asn)
c.2421A>C (p.Lys807Asn)
19g.7462168A>GCA505218955ARHGEF18c.1431A>G (p.Lys477=)
c.1743A>G (p.Lys581=)
c.2469A>G (p.Lys823=)
c.1905A>G (p.Lys635=)
c.838A>G
c.1705A>G
c.2664A>G (p.Lys888=)
c.2421A>G (p.Lys807=)
19g.7462168A>TCA403080584ARHGEF18c.1431A>T (p.Lys477Asn)
c.1743A>T (p.Lys581Asn)
c.2469A>T (p.Lys823Asn)
c.1905A>T (p.Lys635Asn)
c.838A>T
c.1705A>T
c.2664A>T (p.Lys888Asn)
c.2421A>T (p.Lys807Asn)
19g.7462169G>ACA403080585ARHGEF18c.1432G>A (p.Asp478Asn)
c.1744G>A (p.Asp582Asn)
c.2470G>A (p.Asp824Asn)
c.1906G>A (p.Asp636Asn)
c.839G>A
c.1706G>A
c.2665G>A (p.Asp889Asn)
c.2422G>A (p.Asp808Asn)
19g.7462169G>CCA403080586ARHGEF18c.1432G>C (p.Asp478His)
c.1744G>C (p.Asp582His)
c.2470G>C (p.Asp824His)
c.1906G>C (p.Asp636His)
c.839G>C
c.1706G>C
c.2665G>C (p.Asp889His)
c.2422G>C (p.Asp808His)
19g.7462169G>TCA403080587ARHGEF18c.1432G>T (p.Asp478Tyr)
c.1744G>T (p.Asp582Tyr)
c.2470G>T (p.Asp824Tyr)
c.1906G>T (p.Asp636Tyr)
c.839G>T
c.1706G>T
c.2665G>T (p.Asp889Tyr)
c.2422G>T (p.Asp808Tyr)
19g.7462170A>CCA403080590ARHGEF18c.1433A>C (p.Asp478Ala)
c.1745A>C (p.Asp582Ala)
c.2471A>C (p.Asp824Ala)
c.1907A>C (p.Asp636Ala)
c.840A>C
c.1707A>C
c.2666A>C (p.Asp889Ala)
c.2423A>C (p.Asp808Ala)
19g.7462170A>GCA403080588ARHGEF18c.1433A>G (p.Asp478Gly)
c.1745A>G (p.Asp582Gly)
c.2471A>G (p.Asp824Gly)
c.1907A>G (p.Asp636Gly)
c.840A>G
c.1707A>G
c.2666A>G (p.Asp889Gly)
c.2423A>G (p.Asp808Gly)
19g.7462170A>TCA403080589ARHGEF18c.1433A>T (p.Asp478Val)
c.1745A>T (p.Asp582Val)
c.2471A>T (p.Asp824Val)
c.1907A>T (p.Asp636Val)
c.840A>T
c.1707A>T
c.2666A>T (p.Asp889Val)
c.2423A>T (p.Asp808Val)
19g.7462171C>ACA403080591ARHGEF18c.1434C>A (p.Asp478Glu)
c.1746C>A (p.Asp582Glu)
c.2472C>A (p.Asp824Glu)
c.1908C>A (p.Asp636Glu)
c.841C>A
c.1708C>A
c.2667C>A (p.Asp889Glu)
c.2424C>A (p.Asp808Glu)
19g.7462171C>GCA403080592ARHGEF18c.1434C>G (p.Asp478Glu)
c.1746C>G (p.Asp582Glu)
c.2472C>G (p.Asp824Glu)
c.1908C>G (p.Asp636Glu)
c.841C>G
c.1708C>G
c.2667C>G (p.Asp889Glu)
c.2424C>G (p.Asp808Glu)
19g.7462171C>TCA505218956ARHGEF18c.1434C>T (p.Asp478=)
c.1746C>T (p.Asp582=)
c.2472C>T (p.Asp824=)
c.1908C>T (p.Asp636=)
c.841C>T
c.1708C>T
c.2667C>T (p.Asp889=)
c.2424C>T (p.Asp808=)
gnomAD v4
19g.7462172C>ACA403080593ARHGEF18c.1435C>A (p.Gln479Lys)
c.1747C>A (p.Gln583Lys)
c.2473C>A (p.Gln825Lys)
c.1909C>A (p.Gln637Lys)
c.842C>A
c.1709C>A
c.2668C>A (p.Gln890Lys)
c.2425C>A (p.Gln809Lys)
gnomAD v4
19g.7462172C>GCA403080594ARHGEF18c.1435C>G (p.Gln479Glu)
c.1747C>G (p.Gln583Glu)
c.2473C>G (p.Gln825Glu)
c.1909C>G (p.Gln637Glu)
c.842C>G
c.1709C>G
c.2668C>G (p.Gln890Glu)
c.2425C>G (p.Gln809Glu)
19g.7462172C>TCA403080595ARHGEF18c.1435C>T (p.Gln479Ter)
c.1747C>T (p.Gln583Ter)
c.2473C>T (p.Gln825Ter)
c.1909C>T (p.Gln637Ter)
c.842C>T
c.1709C>T
c.2668C>T (p.Gln890Ter)
c.2425C>T (p.Gln809Ter)
19g.7462173A=CA2320929742ARHGEF18c.1436A= (p.Gln479=)
c.1748A= (p.Gln583=)
c.2474A= (p.Gln825=)
c.1910A= (p.Gln637=)
c.843A=
c.1710A=
c.2669A= (p.Gln890=)
c.2426A= (p.Gln809=)
19g.7462173A>CCA403080596ARHGEF18c.1436A>C (p.Gln479Pro)
c.1748A>C (p.Gln583Pro)
c.2474A>C (p.Gln825Pro)
c.1910A>C (p.Gln637Pro)
c.843A>C
c.1710A>C
c.2669A>C (p.Gln890Pro)
c.2426A>C (p.Gln809Pro)
dbSNP gnomAD v3 gnomAD v4
19g.7462173A>GCA403080597ARHGEF18c.1436A>G (p.Gln479Arg)
c.1748A>G (p.Gln583Arg)
c.2474A>G (p.Gln825Arg)
c.1910A>G (p.Gln637Arg)
c.843A>G
c.1710A>G
c.2669A>G (p.Gln890Arg)
c.2426A>G (p.Gln809Arg)
gnomAD v4
19g.7462173A>TCA403080598ARHGEF18c.1436A>T (p.Gln479Leu)
c.1748A>T (p.Gln583Leu)
c.2474A>T (p.Gln825Leu)
c.1910A>T (p.Gln637Leu)
c.843A>T
c.1710A>T
c.2669A>T (p.Gln890Leu)
c.2426A>T (p.Gln809Leu)
19g.7462174G>ACA505218957ARHGEF18c.1437G>A (p.Gln479=)
c.1749G>A (p.Gln583=)
c.2475G>A (p.Gln825=)
c.1911G>A (p.Gln637=)
c.844G>A
c.1711G>A
c.2670G>A (p.Gln890=)
c.2427G>A (p.Gln809=)
19g.7462174G>CCA403080599ARHGEF18c.1437G>C (p.Gln479His)
c.1749G>C (p.Gln583His)
c.2475G>C (p.Gln825His)
c.1911G>C (p.Gln637His)
c.844G>C
c.1711G>C
c.2670G>C (p.Gln890His)
c.2427G>C (p.Gln809His)
19g.7462174G>TCA403080600ARHGEF18c.1437G>T (p.Gln479His)
c.1749G>T (p.Gln583His)
c.2475G>T (p.Gln825His)
c.1911G>T (p.Gln637His)
c.844G>T
c.1711G>T
c.2670G>T (p.Gln890His)
c.2427G>T (p.Gln809His)
19g.7462175C>ACA403080601ARHGEF18c.1438C>A (p.Leu480Met)
c.1750C>A (p.Leu584Met)
c.2476C>A (p.Leu826Met)
c.1912C>A (p.Leu638Met)
c.845C>A
c.1712C>A
c.2671C>A (p.Leu891Met)
c.2428C>A (p.Leu810Met)
19g.7462175C=CA2320929744ARHGEF18c.1438C= (p.Leu480=)
c.1750C= (p.Leu584=)
c.2476C= (p.Leu826=)
c.1912C= (p.Leu638=)
c.845C=
c.1712C=
c.2671C= (p.Leu891=)
c.2428C= (p.Leu810=)
19g.7462175C>GCA403080602ARHGEF18c.1438C>G (p.Leu480Val)
c.1750C>G (p.Leu584Val)
c.2476C>G (p.Leu826Val)
c.1912C>G (p.Leu638Val)
c.845C>G
c.1712C>G
c.2671C>G (p.Leu891Val)
c.2428C>G (p.Leu810Val)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.7462175C>TCA505218958ARHGEF18c.1438C>T (p.Leu480=)
c.1750C>T (p.Leu584=)
c.2476C>T (p.Leu826=)
c.1912C>T (p.Leu638=)
c.845C>T
c.1712C>T
c.2671C>T (p.Leu891=)
c.2428C>T (p.Leu810=)
gnomAD v4
19g.7462176T>ACA403080605ARHGEF18c.1439T>A (p.Leu480Gln)
c.1751T>A (p.Leu584Gln)
c.2477T>A (p.Leu826Gln)
c.1913T>A (p.Leu638Gln)
c.846T>A
c.1713T>A
c.2672T>A (p.Leu891Gln)
c.2429T>A (p.Leu810Gln)
19g.7462176T>CCA403080604ARHGEF18c.1439T>C (p.Leu480Pro)
c.1751T>C (p.Leu584Pro)
c.2477T>C (p.Leu826Pro)
c.1913T>C (p.Leu638Pro)
c.846T>C
c.1713T>C
c.2672T>C (p.Leu891Pro)
c.2429T>C (p.Leu810Pro)
dbSNP gnomAD v4
19g.7462176T>GCA403080603ARHGEF18c.1439T>G (p.Leu480Arg)
c.1751T>G (p.Leu584Arg)
c.2477T>G (p.Leu826Arg)
c.1913T>G (p.Leu638Arg)
c.846T>G
c.1713T>G
c.2672T>G (p.Leu891Arg)
c.2429T>G (p.Leu810Arg)
19g.7462176T=CA2320929746ARHGEF18c.1439T= (p.Leu480=)
c.1751T= (p.Leu584=)
c.2477T= (p.Leu826=)
c.1913T= (p.Leu638=)
c.846T=
c.1713T=
c.2672T= (p.Leu891=)
c.2429T= (p.Leu810=)
19g.7462177G>ACA505218959ARHGEF18c.1440G>A (p.Leu480=)
c.1752G>A (p.Leu584=)
c.2478G>A (p.Leu826=)
c.1914G>A (p.Leu638=)
c.847G>A
c.1714G>A
c.2673G>A (p.Leu891=)
c.2430G>A (p.Leu810=)
19g.7462177G>CCA505218960ARHGEF18c.1440G>C (p.Leu480=)
c.1752G>C (p.Leu584=)
c.2478G>C (p.Leu826=)
c.1914G>C (p.Leu638=)
c.847G>C
c.1714G>C
c.2673G>C (p.Leu891=)
c.2430G>C (p.Leu810=)
19g.7462177G>TCA505218961ARHGEF18c.1440G>T (p.Leu480=)
c.1752G>T (p.Leu584=)
c.2478G>T (p.Leu826=)
c.1914G>T (p.Leu638=)
c.847G>T
c.1714G>T
c.2673G>T (p.Leu891=)
c.2430G>T (p.Leu810=)
19g.7462178A>CCA403080608ARHGEF18c.1441A>C (p.Ile481Leu)
c.1753A>C (p.Ile585Leu)
c.2479A>C (p.Ile827Leu)
c.1915A>C (p.Ile639Leu)
c.848A>C
c.1715A>C
c.2674A>C (p.Ile892Leu)
c.2431A>C (p.Ile811Leu)
19g.7462178A>GCA403080606ARHGEF18c.1441A>G (p.Ile481Val)
c.1753A>G (p.Ile585Val)
c.2479A>G (p.Ile827Val)
c.1915A>G (p.Ile639Val)
c.848A>G
c.1715A>G
c.2674A>G (p.Ile892Val)
c.2431A>G (p.Ile811Val)
19g.7462178A>TCA403080607ARHGEF18c.1441A>T (p.Ile481Phe)
c.1753A>T (p.Ile585Phe)
c.2479A>T (p.Ile827Phe)
c.1915A>T (p.Ile639Phe)
c.848A>T
c.1715A>T
c.2674A>T (p.Ile892Phe)
c.2431A>T (p.Ile811Phe)
19g.7462179T>ACA403080609ARHGEF18c.1442T>A (p.Ile481Asn)
c.1754T>A (p.Ile585Asn)
c.2480T>A (p.Ile827Asn)
c.1916T>A (p.Ile639Asn)
c.849T>A
c.1716T>A
c.2675T>A (p.Ile892Asn)
c.2432T>A (p.Ile811Asn)
gnomAD v4
19g.7462179T>CCA403080610ARHGEF18c.1442T>C (p.Ile481Thr)
c.1754T>C (p.Ile585Thr)
c.2480T>C (p.Ile827Thr)
c.1916T>C (p.Ile639Thr)
c.849T>C
c.1716T>C
c.2675T>C (p.Ile892Thr)
c.2432T>C (p.Ile811Thr)
19g.7462179T>GCA403080611ARHGEF18c.1442T>G (p.Ile481Ser)
c.1754T>G (p.Ile585Ser)
c.2480T>G (p.Ile827Ser)
c.1916T>G (p.Ile639Ser)
c.849T>G
c.1716T>G
c.2675T>G (p.Ile892Ser)
c.2432T>G (p.Ile811Ser)
19g.7462180C>ACA505218962ARHGEF18c.1443C>A (p.Ile481=)
c.1755C>A (p.Ile585=)
c.2481C>A (p.Ile827=)
c.1917C>A (p.Ile639=)
c.850C>A
c.1717C>A
c.2676C>A (p.Ile892=)
c.2433C>A (p.Ile811=)
19g.7462180C=CA2320929751ARHGEF18c.1443C= (p.Ile481=)
c.1755C= (p.Ile585=)
c.2481C= (p.Ile827=)
c.1917C= (p.Ile639=)
c.850C=
c.1717C=
c.2676C= (p.Ile892=)
c.2433C= (p.Ile811=)
19g.7462180C>GCA403080612ARHGEF18c.1443C>G (p.Ile481Met)
c.1755C>G (p.Ile585Met)
c.2481C>G (p.Ile827Met)
c.1917C>G (p.Ile639Met)
c.850C>G
c.1717C>G
c.2676C>G (p.Ile892Met)
c.2433C>G (p.Ile811Met)
gnomAD v4
19g.7462180C>TCA9136878ARHGEF18c.1443C>T (p.Ile481=)
c.1755C>T (p.Ile585=)
c.2481C>T (p.Ile827=)
c.1917C>T (p.Ile639=)
c.850C>T
c.1717C>T
c.2676C>T (p.Ile892=)
c.2433C>T (p.Ile811=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.7462181G>ACA9136879ARHGEF18c.1444G>A (p.Ala482Thr)
c.1756G>A (p.Ala586Thr)
c.2482G>A (p.Ala828Thr)
c.1918G>A (p.Ala640Thr)
c.851G>A
c.1718G>A
c.2677G>A (p.Ala893Thr)
c.2434G>A (p.Ala812Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.7462181G>CCA403080613ARHGEF18c.1444G>C (p.Ala482Pro)
c.1756G>C (p.Ala586Pro)
c.2482G>C (p.Ala828Pro)
c.1918G>C (p.Ala640Pro)
c.851G>C
c.1718G>C
c.2677G>C (p.Ala893Pro)
c.2434G>C (p.Ala812Pro)
19g.7462181G=CA2320929756ARHGEF18c.1444G= (p.Ala482=)
c.1756G= (p.Ala586=)
c.2482G= (p.Ala828=)
c.1918G= (p.Ala640=)
c.851G=
c.1718G=
c.2677G= (p.Ala893=)
c.2434G= (p.Ala812=)
19g.7462181G>TCA403080614ARHGEF18c.1444G>T (p.Ala482Ser)
c.1756G>T (p.Ala586Ser)
c.2482G>T (p.Ala828Ser)
c.1918G>T (p.Ala640Ser)
c.851G>T
c.1718G>T
c.2677G>T (p.Ala893Ser)
c.2434G>T (p.Ala812Ser)
dbSNP gnomAD v3 gnomAD v4
19g.7462182C>ACA403080615ARHGEF18c.1445C>A (p.Ala482Glu)
c.1757C>A (p.Ala586Glu)
c.2483C>A (p.Ala828Glu)
c.1919C>A (p.Ala640Glu)
c.852C>A
c.1719C>A
c.2678C>A (p.Ala893Glu)
c.2435C>A (p.Ala812Glu)
19g.7462182C>GCA403080616ARHGEF18c.1445C>G (p.Ala482Gly)
c.1757C>G (p.Ala586Gly)
c.2483C>G (p.Ala828Gly)
c.1919C>G (p.Ala640Gly)
c.852C>G
c.1719C>G
c.2678C>G (p.Ala893Gly)
c.2435C>G (p.Ala812Gly)
19g.7462182C>TCA403080617ARHGEF18c.1445C>T (p.Ala482Val)
c.1757C>T (p.Ala586Val)
c.2483C>T (p.Ala828Val)
c.1919C>T (p.Ala640Val)
c.852C>T
c.1719C>T
c.2678C>T (p.Ala893Val)
c.2435C>T (p.Ala812Val)
19g.7462183A>CCA505218963ARHGEF18c.1446A>C (p.Ala482=)
c.1758A>C (p.Ala586=)
c.2484A>C (p.Ala828=)
c.1920A>C (p.Ala640=)
c.853A>C
c.1720A>C
c.2679A>C (p.Ala893=)
c.2436A>C (p.Ala812=)
19g.7462183A>GCA505218964ARHGEF18c.1446A>G (p.Ala482=)
c.1758A>G (p.Ala586=)
c.2484A>G (p.Ala828=)
c.1920A>G (p.Ala640=)
c.853A>G
c.1720A>G
c.2679A>G (p.Ala893=)
c.2436A>G (p.Ala812=)
19g.7462183A>TCA505218965ARHGEF18c.1446A>T (p.Ala482=)
c.1758A>T (p.Ala586=)
c.2484A>T (p.Ala828=)
c.1920A>T (p.Ala640=)
c.853A>T
c.1720A>T
c.2679A>T (p.Ala893=)
c.2436A>T (p.Ala812=)
19g.7462184C>ACA403080620ARHGEF18c.1447C>A (p.Gln483Lys)
c.1759C>A (p.Gln587Lys)
c.2485C>A (p.Gln829Lys)
c.1921C>A (p.Gln641Lys)
c.854C>A
c.1721C>A
c.2680C>A (p.Gln894Lys)
c.2437C>A (p.Gln813Lys)
19g.7462184C>GCA403080618ARHGEF18c.1447C>G (p.Gln483Glu)
c.1759C>G (p.Gln587Glu)
c.2485C>G (p.Gln829Glu)
c.1921C>G (p.Gln641Glu)
c.854C>G
c.1721C>G
c.2680C>G (p.Gln894Glu)
c.2437C>G (p.Gln813Glu)
19g.7462184C>TCA403080619ARHGEF18c.1447C>T (p.Gln483Ter)
c.1759C>T (p.Gln587Ter)
c.2485C>T (p.Gln829Ter)
c.1921C>T (p.Gln641Ter)
c.854C>T
c.1721C>T
c.2680C>T (p.Gln894Ter)
c.2437C>T (p.Gln813Ter)
gnomAD v4
19g.7462185A>CCA403080621ARHGEF18c.1448A>C (p.Gln483Pro)
c.1760A>C (p.Gln587Pro)
c.2486A>C (p.Gln829Pro)
c.1922A>C (p.Gln641Pro)
c.855A>C
c.1722A>C
c.2681A>C (p.Gln894Pro)
c.2438A>C (p.Gln813Pro)
19g.7462185A>GCA403080622ARHGEF18c.1448A>G (p.Gln483Arg)
c.1760A>G (p.Gln587Arg)
c.2486A>G (p.Gln829Arg)
c.1922A>G (p.Gln641Arg)
c.855A>G
c.1722A>G
c.2681A>G (p.Gln894Arg)
c.2438A>G (p.Gln813Arg)
19g.7462185A>TCA403080623ARHGEF18c.1448A>T (p.Gln483Leu)
c.1760A>T (p.Gln587Leu)
c.2486A>T (p.Gln829Leu)
c.1922A>T (p.Gln641Leu)
c.855A>T
c.1722A>T
c.2681A>T (p.Gln894Leu)
c.2438A>T (p.Gln813Leu)
19g.7462186G>ACA505218966ARHGEF18c.1449G>A (p.Gln483=)
c.1761G>A (p.Gln587=)
c.2487G>A (p.Gln829=)
c.1923G>A (p.Gln641=)
c.856G>A
c.1723G>A
c.2682G>A (p.Gln894=)
c.2439G>A (p.Gln813=)
19g.7462186G>CCA403080624ARHGEF18c.1449G>C (p.Gln483His)
c.1761G>C (p.Gln587His)
c.2487G>C (p.Gln829His)
c.1923G>C (p.Gln641His)
c.856G>C
c.1723G>C
c.2682G>C (p.Gln894His)
c.2439G>C (p.Gln813His)
19g.7462186G>TCA403080625ARHGEF18c.1449G>T (p.Gln483His)
c.1761G>T (p.Gln587His)
c.2487G>T (p.Gln829His)
c.1923G>T (p.Gln641His)
c.856G>T
c.1723G>T
c.2682G>T (p.Gln894His)
c.2439G>T (p.Gln813His)
19g.7462187A>CCA403080626ARHGEF18c.1450A>C (p.Ser484Arg)
c.1762A>C (p.Ser588Arg)
c.2488A>C (p.Ser830Arg)
c.1924A>C (p.Ser642Arg)
c.857A>C
c.1724A>C
c.2683A>C (p.Ser895Arg)
c.2440A>C (p.Ser814Arg)
gnomAD v4
19g.7462187A>GCA403080627ARHGEF18c.1450A>G (p.Ser484Gly)
c.1762A>G (p.Ser588Gly)
c.2488A>G (p.Ser830Gly)
c.1924A>G (p.Ser642Gly)
c.857A>G
c.1724A>G
c.2683A>G (p.Ser895Gly)
c.2440A>G (p.Ser814Gly)
19g.7462187A>TCA403080628ARHGEF18c.1450A>T (p.Ser484Cys)
c.1762A>T (p.Ser588Cys)
c.2488A>T (p.Ser830Cys)
c.1924A>T (p.Ser642Cys)
c.857A>T
c.1724A>T
c.2683A>T (p.Ser895Cys)
c.2440A>T (p.Ser814Cys)
19g.7462188G>ACA403080629ARHGEF18c.1451G>A (p.Ser484Asn)
c.1763G>A (p.Ser588Asn)
c.2489G>A (p.Ser830Asn)
c.1925G>A (p.Ser642Asn)
c.858G>A
c.1725G>A
c.2684G>A (p.Ser895Asn)
c.2441G>A (p.Ser814Asn)
19g.7462188G>CCA403080630ARHGEF18c.1451G>C (p.Ser484Thr)
c.1763G>C (p.Ser588Thr)
c.2489G>C (p.Ser830Thr)
c.1925G>C (p.Ser642Thr)
c.858G>C
c.1725G>C
c.2684G>C (p.Ser895Thr)
c.2441G>C (p.Ser814Thr)
19g.7462188G>TCA403080631ARHGEF18c.1451G>T (p.Ser484Ile)
c.1763G>T (p.Ser588Ile)
c.2489G>T (p.Ser830Ile)
c.1925G>T (p.Ser642Ile)
c.858G>T
c.1725G>T
c.2684G>T (p.Ser895Ile)
c.2441G>T (p.Ser814Ile)
19g.7462189C>ACA403080632ARHGEF18c.1452C>A (p.Ser484Arg)
c.1764C>A (p.Ser588Arg)
c.2490C>A (p.Ser830Arg)
c.1926C>A (p.Ser642Arg)
c.859C>A
c.1726C>A
c.2685C>A (p.Ser895Arg)
c.2442C>A (p.Ser814Arg)
19g.7462189C>GCA403080633ARHGEF18c.1452C>G (p.Ser484Arg)
c.1764C>G (p.Ser588Arg)
c.2490C>G (p.Ser830Arg)
c.1926C>G (p.Ser642Arg)
c.859C>G
c.1726C>G
c.2685C>G (p.Ser895Arg)
c.2442C>G (p.Ser814Arg)
19g.7462189C>TCA505218967ARHGEF18c.1452C>T (p.Ser484=)
c.1764C>T (p.Ser588=)
c.2490C>T (p.Ser830=)
c.1926C>T (p.Ser642=)
c.859C>T
c.1726C>T
c.2685C>T (p.Ser895=)
c.2442C>T (p.Ser814=)
gnomAD v4
19g.7462190C>ACA403080635ARHGEF18c.1453C>A (p.Leu485Ile)
c.1765C>A (p.Leu589Ile)
c.2491C>A (p.Leu831Ile)
c.1927C>A (p.Leu643Ile)
c.860C>A
c.1727C>A
c.2686C>A (p.Leu896Ile)
c.2443C>A (p.Leu815Ile)
19g.7462190C>GCA403080636ARHGEF18c.1453C>G (p.Leu485Val)
c.1765C>G (p.Leu589Val)
c.2491C>G (p.Leu831Val)
c.1927C>G (p.Leu643Val)
c.860C>G
c.1727C>G
c.2686C>G (p.Leu896Val)
c.2443C>G (p.Leu815Val)
19g.7462190C>TCA403080634ARHGEF18c.1453C>T (p.Leu485Phe)
c.1765C>T (p.Leu589Phe)
c.2491C>T (p.Leu831Phe)
c.1927C>T (p.Leu643Phe)
c.860C>T
c.1727C>T
c.2686C>T (p.Leu896Phe)
c.2443C>T (p.Leu815Phe)
gnomAD v4
19g.7462191T>ACA403080637ARHGEF18c.1454T>A (p.Leu485His)
c.1766T>A (p.Leu589His)
c.2492T>A (p.Leu831His)
c.1928T>A (p.Leu643His)
c.861T>A
c.1728T>A
c.2687T>A (p.Leu896His)
c.2444T>A (p.Leu815His)
19g.7462191T>CCA403080639ARHGEF18c.1454T>C (p.Leu485Pro)
c.1766T>C (p.Leu589Pro)
c.2492T>C (p.Leu831Pro)
c.1928T>C (p.Leu643Pro)
c.861T>C
c.1728T>C
c.2687T>C (p.Leu896Pro)
c.2444T>C (p.Leu815Pro)
19g.7462191T>GCA403080638ARHGEF18c.1454T>G (p.Leu485Arg)
c.1766T>G (p.Leu589Arg)
c.2492T>G (p.Leu831Arg)
c.1928T>G (p.Leu643Arg)
c.861T>G
c.1728T>G
c.2687T>G (p.Leu896Arg)
c.2444T>G (p.Leu815Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7462191T=CA2320929761ARHGEF18c.1454T= (p.Leu485=)
c.1766T= (p.Leu589=)
c.2492T= (p.Leu831=)
c.1928T= (p.Leu643=)
c.861T=
c.1728T=
c.2687T= (p.Leu896=)
c.2444T= (p.Leu815=)
19g.7462192C>ACA505218968ARHGEF18c.1455C>A (p.Leu485=)
c.1767C>A (p.Leu589=)
c.2493C>A (p.Leu831=)
c.1929C>A (p.Leu643=)
c.862C>A
c.1729C>A
c.2688C>A (p.Leu896=)
c.2445C>A (p.Leu815=)
19g.7462192C>GCA505218969ARHGEF18c.1455C>G (p.Leu485=)
c.1767C>G (p.Leu589=)
c.2493C>G (p.Leu831=)
c.1929C>G (p.Leu643=)
c.862C>G
c.1729C>G
c.2688C>G (p.Leu896=)
c.2445C>G (p.Leu815=)
19g.7462192C>TCA505218970ARHGEF18c.1455C>T (p.Leu485=)
c.1767C>T (p.Leu589=)
c.2493C>T (p.Leu831=)
c.1929C>T (p.Leu643=)
c.862C>T
c.1729C>T
c.2688C>T (p.Leu896=)
c.2445C>T (p.Leu815=)
gnomAD v4
19g.7462193C>ACA403080991ARHGEF18c.1456C>A (p.Leu486Ile)
c.1768C>A (p.Leu590Ile)
c.2494C>A (p.Leu832Ile)
c.1930C>A (p.Leu644Ile)
c.863C>A
c.1730C>A
c.2689C>A (p.Leu897Ile)
c.2446C>A (p.Leu816Ile)
19g.7462193C>GCA403080993ARHGEF18c.1456C>G (p.Leu486Val)
c.1768C>G (p.Leu590Val)
c.2494C>G (p.Leu832Val)
c.1930C>G (p.Leu644Val)
c.863C>G
c.1730C>G
c.2689C>G (p.Leu897Val)
c.2446C>G (p.Leu816Val)
19g.7462193C>TCA505218971ARHGEF18c.1456C>T (p.Leu486=)
c.1768C>T (p.Leu590=)
c.2494C>T (p.Leu832=)
c.1930C>T (p.Leu644=)
c.863C>T
c.1730C>T
c.2689C>T (p.Leu897=)
c.2446C>T (p.Leu816=)
gnomAD v4
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

Number of alleles fetched