Full data view for gene PPP1R9A

Information The variants shown are described using the NM_001166160.1 transcript reference sequence.

167 entries on 2 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     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-51_-50insT r.(=) p.(=) g.94539375_94539376insT Copied from the Exome Variant Server PPP1R9A_000001 15/12466 11/8234 4/4232 - - - - - - -
?/? c.47C>G r.(?) p.(Ala16Gly) g.94539472C>G Copied from the Exome Variant Server PPP1R9A_000002 1/13006 0/8600 1/4406 - - - - - - -
?/? c.71G>T r.(?) p.(Arg24Leu) g.94539496G>T Copied from the Exome Variant Server PPP1R9A_000003 1/13006 1/8600 0/4406 - - - - - - -
?/? c.111C>T r.(=) p.(=) g.94539536C>T Copied from the Exome Variant Server PPP1R9A_000004 885/13006 731/8600 154/4406 - - - - - - -
?/? c.115T>A r.(?) p.(Ser39Thr) g.94539540T>A Copied from the Exome Variant Server PPP1R9A_000005 447/13006 3/8600 444/4406 - - - - - - -
?/? c.123G>A r.(=) p.(=) g.94539548G>A Copied from the Exome Variant Server PPP1R9A_000006 3/13006 0/8600 3/4406 - - - - - - -
?/? c.125A>T r.(?) p.(Glu42Val) g.94539550A>T Copied from the Exome Variant Server PPP1R9A_000007 3/13006 2/8600 1/4406 - - - - - - -
?/? c.237G>C r.(?) p.(Glu79Asp) g.94539662G>C Copied from the Exome Variant Server PPP1R9A_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.284_286del r.(?) p.(Pro96del) g.94539709_94539711del Copied from the Exome Variant Server PPP1R9A_000009 11/12518 5/8254 6/4264 - - - - - - -
?/? c.393C>T r.(=) p.(=) g.94539818C>T Copied from the Exome Variant Server PPP1R9A_000010 3/13006 3/8600 0/4406 - - - - - - -
?/? c.423G>C r.(?) p.(Glu141Asp) g.94539848G>C Copied from the Exome Variant Server PPP1R9A_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.472C>T r.(?) p.(Arg158Cys) g.94539897C>T Copied from the Exome Variant Server PPP1R9A_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.637G>C r.(?) p.(Asp213His) g.94540062G>C Copied from the Exome Variant Server PPP1R9A_000013 1/13006 0/8600 1/4406 - - - - - - -
?/? c.641C>G r.(?) p.(Ser214Cys) g.94540066C>G Copied from the Exome Variant Server PPP1R9A_000014 1/13006 1/8600 0/4406 - - - - - - -
?/? c.646A>G r.(?) p.(Ser216Gly) g.94540071A>G Copied from the Exome Variant Server PPP1R9A_000015 1/13006 0/8600 1/4406 - - - - - - -
?/? c.802A>T r.(?) p.(Thr268Ser) g.94540227A>T Copied from the Exome Variant Server PPP1R9A_000016 14/13006 0/8600 14/4406 - - - - - - -
?/? c.814C>T r.(?) p.(His272Tyr) g.94540239C>T Copied from the Exome Variant Server PPP1R9A_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.828A>G r.(=) p.(=) g.94540253A>G Copied from the Exome Variant Server PPP1R9A_000018 2/13006 2/8600 0/4406 - - - - - - -
?/? c.900C>A r.(?) p.(Ser300Arg) g.94540325C>A Copied from the Exome Variant Server PPP1R9A_000019 2/13006 2/8600 0/4406 - - - - - - -
?/? c.946A>G r.(?) p.(Ile316Val) g.94540371A>G Copied from the Exome Variant Server PPP1R9A_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.991A>G r.(?) p.(Met331Val) g.94540416A>G Copied from the Exome Variant Server PPP1R9A_000021 1776/13006 360/8600 1416/4406 - - - - - - -
?/? c.1002C>T r.(=) p.(=) g.94540427C>T Copied from the Exome Variant Server PPP1R9A_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1026A>G r.(=) p.(=) g.94540451A>G Copied from the Exome Variant Server PPP1R9A_000023 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1086A>G r.(=) p.(=) g.94540511A>G Copied from the Exome Variant Server PPP1R9A_000025 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1102G>A r.(?) p.(Asp368Asn) g.94540527G>A Copied from the Exome Variant Server PPP1R9A_000027 648/13006 582/8600 66/4406 - - - - - - -
?/? c.1105T>G r.(?) p.(Phe369Val) g.94540530T>G Copied from the Exome Variant Server PPP1R9A_000024 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1127C>T r.(?) p.(Ala376Val) g.94540552C>T Copied from the Exome Variant Server PPP1R9A_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1198G>A r.(?) p.(Asp400Asn) g.94540623G>A Copied from the Exome Variant Server PPP1R9A_000028 13/13006 0/8600 13/4406 - - - - - - -
?/? c.1284T>G r.(?) p.(Asp428Glu) g.94540709T>G Copied from the Exome Variant Server PPP1R9A_000029 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1325T>C r.(?) p.(Ile442Thr) g.94540750T>C Copied from the Exome Variant Server PPP1R9A_000030 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1345G>A r.(?) p.(Glu449Lys) g.94540770G>A Copied from the Exome Variant Server PPP1R9A_000031 8/13006 0/8600 8/4406 - - - - - - -
?/? c.1362T>C r.(=) p.(=) g.94540787T>C Copied from the Exome Variant Server PPP1R9A_000032 7/13006 3/8600 4/4406 - - - - - - -
?/? c.1462T>A r.(?) p.(Ser488Thr) g.94740637T>A Copied from the Exome Variant Server PPP1R9A_000033 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1472A>G r.(?) p.(Tyr491Cys) g.94740647A>G Copied from the Exome Variant Server PPP1R9A_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1512A>G r.(=) p.(=) g.94740687A>G Copied from the Exome Variant Server PPP1R9A_000035 27/13006 26/8600 1/4406 - - - - - - -
?/? c.1522G>C r.(?) p.(Glu508Gln) g.94740697G>C Copied from the Exome Variant Server PPP1R9A_000036 9/13006 9/8600 0/4406 - - - - - - -
?/? c.1528+4C>T r.spl? p.? g.94740707C>T Copied from the Exome Variant Server PPP1R9A_000037 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1637A>G r.(?) p.(Gln546Arg) g.94750132A>G Copied from the Exome Variant Server PPP1R9A_000038 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1639C>T r.(?) p.(Arg547Trp) g.94750134C>T Copied from the Exome Variant Server PPP1R9A_000039 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1649+23T>C r.(=) p.(=) g.94750167T>C Copied from the Exome Variant Server PPP1R9A_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1650A>G r.(=) p.(=) g.94791179A>G Copied from the Exome Variant Server PPP1R9A_000041 1/13002 1/8600 0/4402 - - - - - - -
?/? c.1695G>A r.(=) p.(=) g.94791224G>A Copied from the Exome Variant Server PPP1R9A_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1696G>T r.(?) p.(Val566Leu) g.94791225G>T Copied from the Exome Variant Server PPP1R9A_000043 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1754+9G>A r.(=) p.(=) g.94791292G>A Copied from the Exome Variant Server PPP1R9A_000044 1/13004 0/8600 1/4404 - - - - - - -
?/? c.1754+30G>A r.(=) p.(=) g.94791313G>A Copied from the Exome Variant Server PPP1R9A_000045 1/12998 1/8598 0/4400 - - - - - - -
?/? c.1755-10_1755-9insT r.(=) p.(=) g.94827651_94827652insT Copied from the Exome Variant Server PPP1R9A_000046 1/12518 1/8254 0/4264 - - - - - - -
?/? c.1834C>T r.(?) p.(Arg612Cys) g.94827740C>T Copied from the Exome Variant Server PPP1R9A_000047 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1879G>A r.(?) p.(Asp627Asn) g.94827785G>A Copied from the Exome Variant Server PPP1R9A_000048 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1887C>T r.(=) p.(=) g.94827793C>T Copied from the Exome Variant Server PPP1R9A_000049 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1890+17A>G r.(=) p.(=) g.94827813A>G Copied from the Exome Variant Server PPP1R9A_000050 32/13006 26/8600 6/4406 - - - - - - -
?/? c.1891-45G>A r.(=) p.(=) g.94832932G>A Copied from the Exome Variant Server PPP1R9A_000051 9/4566 9/3182 0/1384 - - - - - - -
?/? c.1900G>A r.(?) p.(Ala634Thr) g.94832986G>A Copied from the Exome Variant Server PPP1R9A_000052 1/4566 0/3182 1/1384 - - - - - - -
?/? c.1957-50C>T r.(=) p.(=) g.94855223C>T Copied from the Exome Variant Server PPP1R9A_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1985A>C r.(?) p.(Glu662Ala) g.94855301A>C Copied from the Exome Variant Server PPP1R9A_000054 2/13006 1/8600 1/4406 - - - - - - -
?/? c.2016C>T r.(=) p.(=) g.94855332C>T Copied from the Exome Variant Server PPP1R9A_000055 3/13006 3/8600 0/4406 - - - - - - -
?/? c.2024C>A r.(?) p.(Ala675Asp) g.94855340C>A Copied from the Exome Variant Server PPP1R9A_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2069C>T r.(?) p.(Pro690Leu) g.94855385C>T Copied from the Exome Variant Server PPP1R9A_000057 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2101A>G r.(?) p.(Lys701Glu) g.94855417A>G Copied from the Exome Variant Server PPP1R9A_000058 3/13006 3/8600 0/4406 - - - - - - -
?/? c.2112+39C>A r.(=) p.(=) g.94855467C>A Copied from the Exome Variant Server PPP1R9A_000059 1/13004 1/8598 0/4406 - - - - - - -
?/? c.2113-71T>C r.(=) p.(=) g.94876714T>C Copied from the Exome Variant Server PPP1R9A_000060 1/4564 0/3180 1/1384 - - - - - - -
?/? c.2113-42C>T r.(=) p.(=) g.94876743C>T Copied from the Exome Variant Server PPP1R9A_000061 1/13004 1/8598 0/4406 - - - - - - -
?/? c.2113-14_2113-11del r.(=) p.(=) g.94876771_94876774del Copied from the Exome Variant Server PPP1R9A_000062 1/12514 0/8250 1/4264 - - - - - - -
?/? c.2113-8_2113-7insT r.(=) p.(=) g.94876777_94876778insT Copied from the Exome Variant Server PPP1R9A_000063 1/12518 1/8254 0/4264 - - - - - - -
?/? c.2153A>C r.(?) p.(Lys718Thr) g.94876825A>C Copied from the Exome Variant Server PPP1R9A_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2166+10G>A r.(=) p.(=) g.94876848G>A Copied from the Exome Variant Server PPP1R9A_000065 2/13006 1/8600 1/4406 - - - - - - -
?/? c.2166+13A>G r.(=) p.(=) g.94876851A>G Copied from the Exome Variant Server PPP1R9A_000066 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2167-32A>T r.(=) p.(=) g.94879306A>T Copied from the Exome Variant Server PPP1R9A_000067 22/13002 1/8596 21/4406 - - - - - - -
?/? c.2167-15G>A r.(=) p.(=) g.94879323G>A Copied from the Exome Variant Server PPP1R9A_000069 65/13002 3/8596 62/4406 - - - - - - -
?/? c.2222A>G r.(?) p.(Gln741Arg) g.94879393A>G Copied from the Exome Variant Server PPP1R9A_000071 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2230A>G r.(?) p.(Ile744Val) g.94879401A>G Copied from the Exome Variant Server PPP1R9A_000073 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2281G>A r.(?) p.(Ala761Thr) g.94879452G>A Copied from the Exome Variant Server PPP1R9A_000075 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2360A>G r.(?) p.(Asn787Ser) g.94879531A>G Copied from the Exome Variant Server PPP1R9A_000077 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2396+7C>T r.(=) p.(=) g.94879574C>T Copied from the Exome Variant Server PPP1R9A_000079 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2396+14A>G r.(=) p.(=) g.94879581A>G Copied from the Exome Variant Server PPP1R9A_000081 1/12998 1/8594 0/4404 - - - - - - -
?/? c.2396+50del r.(=) p.(=) g.94879617del Copied from the Exome Variant Server PPP1R9A_000083 2/12348 0/8178 2/4170 - - - - - - -
?/? c.2397-37T>C r.(=) p.(=) g.94881037T>C Copied from the Exome Variant Server PPP1R9A_000085 1/12940 0/8578 1/4362 - - - - - - -
?/? c.2458G>A r.(?) p.(Ala820Thr) g.94881135G>A Copied from the Exome Variant Server PPP1R9A_000087 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2480G>C r.(?) p.(Gly827Ala) g.94881157G>C Copied from the Exome Variant Server PPP1R9A_000068 181/13006 4/8600 177/4406 - - - - - - -
?/? c.2492G>A r.(?) p.(Arg831Gln) g.94881169G>A Copied from the Exome Variant Server PPP1R9A_000070 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2493+4A>C r.spl? p.? g.94881174A>C Copied from the Exome Variant Server PPP1R9A_000072 60/13006 54/8600 6/4406 - - - - - - -
?/? c.2493+39T>C r.(=) p.(=) g.94881209T>C Copied from the Exome Variant Server PPP1R9A_000074 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2494-40C>T r.(=) p.(=) g.94881231C>T Copied from the Exome Variant Server PPP1R9A_000076 57/13006 3/8600 54/4406 - - - - - - -
?/? c.2494-39G>A r.(=) p.(=) g.94881232G>A Copied from the Exome Variant Server PPP1R9A_000078 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2494-17G>T r.(=) p.(=) g.94881254G>T Copied from the Exome Variant Server PPP1R9A_000080 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2494-16G>C r.(=) p.(=) g.94881255G>C Copied from the Exome Variant Server PPP1R9A_000082 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2566A>G r.(?) p.(Ile856Val) g.94881343A>G Copied from the Exome Variant Server PPP1R9A_000084 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2578A>G r.(?) p.(Arg860Gly) g.94881355A>G Copied from the Exome Variant Server PPP1R9A_000086 2/13006 2/8600 0/4406 - - - - - - -
?/? c.2607G>A r.(=) p.(=) g.94881384G>A Copied from the Exome Variant Server PPP1R9A_000088 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2650G>C r.(?) p.(Asp884His) g.94881427G>C Copied from the Exome Variant Server PPP1R9A_000089 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2666-41T>C r.(=) p.(=) g.94897821T>C Copied from the Exome Variant Server PPP1R9A_000091 1/12998 1/8596 0/4402 - - - - - - -
?/? c.2666-28C>T r.(=) p.(=) g.94897834C>T Copied from the Exome Variant Server PPP1R9A_000093 1/13004 1/8598 0/4406 - - - - - - -
?/? c.2666-18A>G r.(=) p.(=) g.94897844A>G Copied from the Exome Variant Server PPP1R9A_000095 8/13004 8/8598 0/4406 - - - - - - -
?/? c.2666-13T>A r.(=) p.(=) g.94897849T>A Copied from the Exome Variant Server PPP1R9A_000097 78/13004 1/8598 77/4406 - - - - - - -
?/? c.2674G>A r.(?) p.(Glu892Lys) g.94897870G>A Copied from the Exome Variant Server PPP1R9A_000099 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2723G>A r.(?) p.(Arg908Gln) g.94897919G>A Copied from the Exome Variant Server PPP1R9A_000101 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2749C>T r.(?) p.(Arg917Cys) g.94897945C>T Copied from the Exome Variant Server PPP1R9A_000103 4/13006 3/8600 1/4406 - - - - - - -
?/? c.2750G>A r.(?) p.(Arg917His) g.94897946G>A Copied from the Exome Variant Server PPP1R9A_000105 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2758C>A r.(?) p.(Pro920Thr) g.94897954C>A Copied from the Exome Variant Server PPP1R9A_000107 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2823+17G>A r.(=) p.(=) g.94898036G>A Copied from the Exome Variant Server PPP1R9A_000109 1/13004 0/8598 1/4406 - - - - - - -
?/? c.2823+25A>G r.(=) p.(=) g.94898044A>G Copied from the Exome Variant Server PPP1R9A_000111 1/13004 1/8598 0/4406 - - - - - - -
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