All transcript variants in gene ARHGEF17

Information The variants shown are described using the NM_014786.3 transcript reference sequence.

332 entries on 4 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.375C>T r.(=) p.(=) g.73020058C>T Copied from the Exome Variant Server ARHGEF17_000001 809/8282 395/5500 414/2782
?/? c.656T>C r.(?) p.(Ile219Thr) g.73020339T>C Copied from the Exome Variant Server ARHGEF17_000002 1/12026 1/7912 0/4114
?/? c.692_693insCTC r.(?) p.(Ser235dup) g.73020375_73020376insCTC Copied from the Exome Variant Server ARHGEF17_000004 3849/11304 1495/7436 2354/3868
?/? c.692_693insCTCCTC r.(?) p.(Ser234_Ser235dup) g.73020375_73020376insCTCCTC Copied from the Exome Variant Server ARHGEF17_000003 90/11304 29/7436 61/3868
?/? c.716C>A r.(?) p.(Ser239Tyr) g.73020399C>A Copied from the Exome Variant Server ARHGEF17_000005 85/12090 6/7996 79/4094
?/? c.739G>A r.(?) p.(Ala247Thr) g.73020422G>A Copied from the Exome Variant Server ARHGEF17_000006 5/12406 0/8178 5/4228
?/? c.791C>T r.(?) p.(Ala264Val) g.73020474C>T Copied from the Exome Variant Server ARHGEF17_000007 1/12408 1/8228 0/4180
?/? c.824C>T r.(?) p.(Ser275Leu) g.73020507C>T Copied from the Exome Variant Server ARHGEF17_000008 1/12682 1/8412 0/4270
?/? c.950G>C r.(?) p.(Ser317Thr) g.73020633G>C Copied from the Exome Variant Server ARHGEF17_000009 1132/12970 17/8576 1115/4394
?/? c.1003G>A r.(?) p.(Ala335Thr) g.73020686G>A Copied from the Exome Variant Server ARHGEF17_000010 7/12850 0/8500 7/4350
?/? c.1021C>T r.(?) p.(Leu341Phe) g.73020704C>T Copied from the Exome Variant Server ARHGEF17_000011 1/12832 1/8486 0/4346
?/? c.1034G>A r.(?) p.(Gly345Asp) g.73020717G>A Copied from the Exome Variant Server ARHGEF17_000013 1/12786 1/8460 0/4326
?/? c.1060G>A r.(?) p.(Gly354Ser) g.73020743G>A Copied from the Exome Variant Server ARHGEF17_000015 1/12740 0/8428 1/4312
?/? c.1064C>T r.(?) p.(Pro355Leu) g.73020747C>T Copied from the Exome Variant Server ARHGEF17_000012 2/12740 2/8428 0/4312
?/? c.1099G>A r.(?) p.(Gly367Arg) g.73020782G>A Copied from the Exome Variant Server ARHGEF17_000014 1/12884 0/8530 1/4354
?/? c.1112G>A r.(?) p.(Arg371His) g.73020795G>A Copied from the Exome Variant Server ARHGEF17_000016 2/12950 1/8566 1/4384
?/? c.1152C>T r.(=) p.(=) g.73020835C>T Copied from the Exome Variant Server ARHGEF17_000017 1/12934 1/8544 0/4390
?/? c.1153G>T r.(?) p.(Ala385Ser) g.73020836G>T Copied from the Exome Variant Server ARHGEF17_000018 1/12944 1/8554 0/4390
?/? c.1163G>T r.(?) p.(Arg388Leu) g.73020846G>T Copied from the Exome Variant Server ARHGEF17_000019 976/12926 818/8550 158/4376
?/? c.1170C>A r.(?) p.(Ser390Arg) g.73020853C>A Copied from the Exome Variant Server ARHGEF17_000020 3/12952 3/8560 0/4392
?/? c.1174C>T r.(?) p.(Arg392Cys) g.73020857C>T Copied from the Exome Variant Server ARHGEF17_000021 2/12952 2/8562 0/4390
?/? c.1221T>G r.(?) p.(Ser407Arg) g.73020904T>G Copied from the Exome Variant Server ARHGEF17_000022 1/12984 1/8584 0/4400
?/? c.1250G>A r.(?) p.(Arg417His) g.73020933G>A Copied from the Exome Variant Server ARHGEF17_000023 1/12986 1/8586 0/4400
?/? c.1251C>T r.(=) p.(=) g.73020934C>T Copied from the Exome Variant Server ARHGEF17_000024 1/12986 0/8586 1/4400
?/? c.1255C>A r.(?) p.(Pro419Thr) g.73020938C>A Copied from the Exome Variant Server ARHGEF17_000025 1/12986 1/8586 0/4400
?/? c.1282C>A r.(?) p.(Leu428Met) g.73020965C>A Copied from the Exome Variant Server ARHGEF17_000026 16/12986 15/8586 1/4400
?/? c.1325C>T r.(?) p.(Thr442Ile) g.73021008C>T Copied from the Exome Variant Server ARHGEF17_000027 1/12986 0/8586 1/4400
?/? c.1328C>T r.(?) p.(Ser443Phe) g.73021011C>T Copied from the Exome Variant Server ARHGEF17_000028 1/12986 0/8586 1/4400
?/? c.1360G>C r.(?) p.(Glu454Gln) g.73021043G>C Copied from the Exome Variant Server ARHGEF17_000029 1/12986 1/8586 0/4400
?/? c.1383C>T r.(=) p.(=) g.73021066C>T Copied from the Exome Variant Server ARHGEF17_000030 1/12986 0/8586 1/4400
?/? c.1392T>G r.(?) p.(Asn464Lys) g.73021075T>G Copied from the Exome Variant Server ARHGEF17_000031 4/12986 4/8586 0/4400
?/? c.1399A>T r.(?) p.(Ile467Phe) g.73021082A>T Copied from the Exome Variant Server ARHGEF17_000032 1/12986 1/8586 0/4400
?/? c.1400T>C r.(?) p.(Ile467Thr) g.73021083T>C Copied from the Exome Variant Server ARHGEF17_000033 2/12986 1/8586 1/4400
?/? c.1401C>T r.(=) p.(=) g.73021084C>T Copied from the Exome Variant Server ARHGEF17_000034 2306/12986 858/8586 1448/4400
?/? c.1404C>T r.(=) p.(=) g.73021087C>T Copied from the Exome Variant Server ARHGEF17_000035 6/12986 0/8586 6/4400
?/? c.1413C>A r.(=) p.(=) g.73021096C>A Copied from the Exome Variant Server ARHGEF17_000036 1/12986 1/8586 0/4400
?/? c.1440A>G r.(=) p.(=) g.73021123A>G Copied from the Exome Variant Server ARHGEF17_000037 22/12986 20/8586 2/4400
?/? c.1443C>T r.(=) p.(=) g.73021126C>T Copied from the Exome Variant Server ARHGEF17_000038 6/12986 5/8586 1/4400
?/? c.1490G>A r.(?) p.(Arg497His) g.73021173G>A Copied from the Exome Variant Server ARHGEF17_000039 1/12986 1/8586 0/4400
?/? c.1523C>T r.(?) p.(Pro508Leu) g.73021206C>T Copied from the Exome Variant Server ARHGEF17_000040 2/12986 0/8586 2/4400
?/? c.1526C>G r.(?) p.(Ser509Cys) g.73021209C>G Copied from the Exome Variant Server ARHGEF17_000041 3/12986 0/8586 3/4400
?/? c.1528G>A r.(?) p.(Ala510Thr) g.73021211G>A Copied from the Exome Variant Server ARHGEF17_000042 1/12986 1/8586 0/4400
?/? c.1571C>T r.(?) p.(Ala524Val) g.73021254C>T Copied from the Exome Variant Server ARHGEF17_000043 49/12986 43/8586 6/4400
?/? c.1616C>T r.(?) p.(Ala539Val) g.73021299C>T Copied from the Exome Variant Server ARHGEF17_000044 1/12986 1/8586 0/4400
?/? c.1655A>C r.(?) p.(Lys552Thr) g.73021338A>C Copied from the Exome Variant Server ARHGEF17_000045 1/12986 1/8586 0/4400
?/? c.1656G>A r.(=) p.(=) g.73021339G>A Copied from the Exome Variant Server ARHGEF17_000046 5/12986 0/8586 5/4400
?/? c.1660A>G r.(?) p.(Met554Val) g.73021343A>G Copied from the Exome Variant Server ARHGEF17_000047 1/12986 0/8586 1/4400
?/? c.1667G>A r.(?) p.(Arg556His) g.73021350G>A Copied from the Exome Variant Server ARHGEF17_000048 1/12984 0/8584 1/4400
?/? c.1668C>T r.(=) p.(=) g.73021351C>T Copied from the Exome Variant Server ARHGEF17_000049 1/12984 0/8584 1/4400
?/? c.1710G>C r.(?) p.(Glu570Asp) g.73021393G>C Copied from the Exome Variant Server ARHGEF17_000050 2/12986 2/8586 0/4400
?/? c.1719C>T r.(=) p.(=) g.73021402C>T Copied from the Exome Variant Server ARHGEF17_000051 1/12986 0/8586 1/4400
?/? c.1727C>A r.(?) p.(Pro576His) g.73021410C>A Copied from the Exome Variant Server ARHGEF17_000052 1/12986 1/8586 0/4400
?/? c.1735G>C r.(?) p.(Glu579Gln) g.73021418G>C Copied from the Exome Variant Server ARHGEF17_000053 16/12986 15/8586 1/4400
?/? c.1779G>A r.(=) p.(=) g.73021462G>A Copied from the Exome Variant Server ARHGEF17_000054 2/12986 0/8586 2/4400
?/? c.1783G>A r.(?) p.(Ala595Thr) g.73021466G>A Copied from the Exome Variant Server ARHGEF17_000055 4/12986 3/8586 1/4400
?/? c.1811G>A r.(?) p.(Arg604His) g.73021494G>A Copied from the Exome Variant Server ARHGEF17_000056 7/12986 7/8586 0/4400
?/? c.1821C>A r.(=) p.(=) g.73021504C>A Copied from the Exome Variant Server ARHGEF17_000057 1/12986 1/8586 0/4400
?/? c.1830T>C r.(=) p.(=) g.73021513T>C Copied from the Exome Variant Server ARHGEF17_000058 1/12986 1/8586 0/4400
?/? c.1851del r.(?) p.(Gly618Glufs*9) g.73021534del Copied from the Exome Variant Server ARHGEF17_000059 4/12518 2/8254 2/4264
?/? c.1885G>C r.(?) p.(Gly629Arg) g.73021568G>C Copied from the Exome Variant Server ARHGEF17_000062 1/12986 1/8586 0/4400
?/? c.1987G>A r.(?) p.(Gly663Ser) g.73021670G>A Copied from the Exome Variant Server ARHGEF17_000064 1/12986 0/8586 1/4400
?/? c.2028C>G r.(=) p.(=) g.73021711C>G Copied from the Exome Variant Server ARHGEF17_000066 21/12986 0/8586 21/4400
?/? c.2034G>A r.(=) p.(=) g.73021717G>A Copied from the Exome Variant Server ARHGEF17_000067 3/12986 0/8586 3/4400
?/? c.2042A>G r.(?) p.(His681Arg) g.73021725A>G Copied from the Exome Variant Server ARHGEF17_000060 1/12986 1/8586 0/4400
?/? c.2046C>T r.(=) p.(=) g.73021729C>T Copied from the Exome Variant Server ARHGEF17_000061 1/12986 0/8586 1/4400
?/? c.2059G>T r.(?) p.(Asp687Tyr) g.73021742G>T Copied from the Exome Variant Server ARHGEF17_000063 1/12986 0/8586 1/4400
?/? c.2071G>A r.(?) p.(Gly691Arg) g.73021754G>A Copied from the Exome Variant Server ARHGEF17_000065 4/12986 2/8586 2/4400
?/? c.2090C>G r.(?) p.(Pro697Arg) g.73021773C>G Copied from the Exome Variant Server ARHGEF17_000068 1/12986 1/8586 0/4400
?/? c.2115C>T r.(=) p.(=) g.73021798C>T Copied from the Exome Variant Server ARHGEF17_000069 3/12986 0/8586 3/4400
?/? c.2116C>T r.(?) p.(Leu706Phe) g.73021799C>T Copied from the Exome Variant Server ARHGEF17_000070 1/12986 1/8586 0/4400
?/? c.2119C>T r.(?) p.(Arg707Cys) g.73021802C>T Copied from the Exome Variant Server ARHGEF17_000071 1/12986 0/8586 1/4400
?/? c.2128C>T r.(?) p.(Arg710Cys) g.73021811C>T Copied from the Exome Variant Server ARHGEF17_000072 1/12986 1/8586 0/4400
?/? c.2137C>A r.(?) p.(Pro713Thr) g.73021820C>A Copied from the Exome Variant Server ARHGEF17_000073 1/12986 0/8586 1/4400
?/? c.2166G>T r.(?) p.(Leu722Phe) g.73021849G>T Copied from the Exome Variant Server ARHGEF17_000074 18/12986 17/8586 1/4400
?/? c.2183G>C r.(?) p.(Gly728Ala) g.73021866G>C Copied from the Exome Variant Server ARHGEF17_000075 3/12986 2/8586 1/4400
?/? c.2247G>A r.(=) p.(=) g.73021930G>A Copied from the Exome Variant Server ARHGEF17_000076 1/12986 0/8586 1/4400
?/? c.2258T>G r.(?) p.(Phe753Cys) g.73021941T>G Copied from the Exome Variant Server ARHGEF17_000077 1/12986 0/8586 1/4400
?/? c.2268C>T r.(=) p.(=) g.73021951C>T Copied from the Exome Variant Server ARHGEF17_000078 1/12986 0/8586 1/4400
?/? c.2270G>A r.(?) p.(Ser757Asn) g.73021953G>A Copied from the Exome Variant Server ARHGEF17_000079 1/12986 0/8586 1/4400
?/? c.2294C>T r.(?) p.(Pro765Leu) g.73021977C>T Copied from the Exome Variant Server ARHGEF17_000080 2/12986 2/8586 0/4400
?/? c.2313C>T r.(=) p.(=) g.73021996C>T Copied from the Exome Variant Server ARHGEF17_000081 1/12986 1/8586 0/4400
?/? c.2324T>C r.(?) p.(Met775Thr) g.73022007T>C Copied from the Exome Variant Server ARHGEF17_000082 22/12986 19/8586 3/4400
?/? c.2333G>A r.(?) p.(Gly778Asp) g.73022016G>A Copied from the Exome Variant Server ARHGEF17_000083 3/12986 0/8586 3/4400
?/? c.2335T>C r.(=) p.(=) g.73022018T>C Copied from the Exome Variant Server ARHGEF17_000084 1/12986 0/8586 1/4400
?/? c.2340C>T r.(=) p.(=) g.73022023C>T Copied from the Exome Variant Server ARHGEF17_000085 5/12986 0/8586 5/4400
?/? c.2341A>G r.(?) p.(Ser781Gly) g.73022024A>G Copied from the Exome Variant Server ARHGEF17_000086 1/12986 1/8586 0/4400
?/? c.2368A>G r.(?) p.(Ser790Gly) g.73022051A>G Copied from the Exome Variant Server ARHGEF17_000087 1/12986 1/8586 0/4400
?/? c.2385A>T r.(=) p.(=) g.73022068A>T Copied from the Exome Variant Server ARHGEF17_000088 1/12986 1/8586 0/4400
?/? c.2413C>G r.(?) p.(Gln805Glu) g.73022096C>G Copied from the Exome Variant Server ARHGEF17_000089 3/12986 3/8586 0/4400
?/? c.2415_2429del r.(?) p.(Pro807_Gly811del) g.73022098_73022112del Copied from the Exome Variant Server ARHGEF17_000090 20/12518 19/8254 1/4264
?/? c.2433G>T r.(=) p.(=) g.73022116G>T Copied from the Exome Variant Server ARHGEF17_000091 40/12986 0/8586 40/4400
?/? c.2446G>A r.(?) p.(Asp816Asn) g.73022129G>A Copied from the Exome Variant Server ARHGEF17_000092 2/12986 0/8586 2/4400
?/? c.2497C>T r.(?) p.(Arg833Cys) g.73022180C>T Copied from the Exome Variant Server ARHGEF17_000093 1/12986 1/8586 0/4400
?/? c.2526C>T r.(=) p.(=) g.73022209C>T Copied from the Exome Variant Server ARHGEF17_000094 1/12986 1/8586 0/4400
?/? c.2573C>T r.(?) p.(Pro858Leu) g.73022256C>T Copied from the Exome Variant Server ARHGEF17_000095 1/12986 0/8586 1/4400
?/? c.2595C>A r.(=) p.(=) g.73022278C>A Copied from the Exome Variant Server ARHGEF17_000096 58/12982 0/8582 58/4400
?/? c.2596C>T r.(?) p.(Leu866Phe) g.73022279C>T Copied from the Exome Variant Server ARHGEF17_000097 1/12984 1/8584 0/4400
?/? c.2644C>T r.(?) p.(Arg882Trp) g.73022327C>T Copied from the Exome Variant Server ARHGEF17_000098 2/12986 2/8586 0/4400
?/? c.2660G>A r.(?) p.(Arg887Lys) g.73022343G>A Copied from the Exome Variant Server ARHGEF17_000099 3/12986 0/8586 3/4400
?/? c.2687C>T r.(?) p.(Pro896Leu) g.73022370C>T Copied from the Exome Variant Server ARHGEF17_000100 7/12986 0/8586 7/4400
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