All transcript variants in gene PPP1R1C

Information The variants shown are described using the NM_001080545.2 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-45G>A r.(=) p.(=) g.182850793G>A Copied from the Exome Variant Server PPP1R1C_000001 1/12182 1/8280 0/3902
?/? c.-4T>C r.(=) p.(=) g.182850834T>C Copied from the Exome Variant Server PPP1R1C_000002 1/12202 0/8298 1/3904
?/? c.37G>A r.(?) p.(Val13Met) g.182850874G>A Copied from the Exome Variant Server PPP1R1C_000003 2/12412 0/8372 2/4040
?/? c.45A>G r.(=) p.(=) g.182850882A>G Copied from the Exome Variant Server PPP1R1C_000004 301/12456 279/8392 22/4064
?/? c.81+4T>C r.spl? p.? g.182850922T>C Copied from the Exome Variant Server PPP1R1C_000005 4/12478 0/8392 4/4086
?/? c.81+8A>T r.(=) p.(=) g.182850926A>T Copied from the Exome Variant Server PPP1R1C_000006 1/12452 1/8382 0/4070
?/? c.81+29C>T r.(=) p.(=) g.182850947C>T Copied from the Exome Variant Server PPP1R1C_000007 1/12362 0/8352 1/4010
?/? c.82-40T>C r.(=) p.(=) g.182852526T>C Copied from the Exome Variant Server PPP1R1C_000008 4/12024 0/8224 4/3800
?/? c.82-12T>C r.(=) p.(=) g.182852554T>C Copied from the Exome Variant Server PPP1R1C_000009 1/12100 0/8266 1/3834
?/? c.88del r.(?) p.(Arg31Glufs*9) g.182852572del Copied from the Exome Variant Server PPP1R1C_000010 403/11640 317/7932 86/3708
?/? c.98C>G r.(?) p.(Pro33Arg) g.182852582C>G Copied from the Exome Variant Server PPP1R1C_000011 1/12144 1/8284 0/3860
?/? c.101C>T r.(?) p.(Thr34Ile) g.182852585C>T Copied from the Exome Variant Server PPP1R1C_000012 1/12142 0/8282 1/3860
?/? c.142+5A>G r.spl? p.? g.182852631A>G Copied from the Exome Variant Server PPP1R1C_000013 1/12080 0/8270 1/3810
?/? c.142+9G>C r.(=) p.(=) g.182852635G>C Copied from the Exome Variant Server PPP1R1C_000014 1/12078 1/8266 0/3812
?/? c.142+57C>T r.(=) p.(=) g.182852683C>T Copied from the Exome Variant Server PPP1R1C_000015 2/4566 2/3182 0/1384
?/? c.143-25T>C r.(=) p.(=) g.182926144T>C Copied from the Exome Variant Server PPP1R1C_000016 865/11136 790/7714 75/3422
?/? c.143-19C>G r.(=) p.(=) g.182926150C>G Copied from the Exome Variant Server PPP1R1C_000017 412/11180 9/7746 403/3434
?/? c.180+30G>A r.(=) p.(=) g.182926236G>A Copied from the Exome Variant Server PPP1R1C_000018 1/10738 0/7426 1/3312
?/? c.181-51C>T r.(=) p.(=) g.182928407C>T Copied from the Exome Variant Server PPP1R1C_000019 1/6170 1/4208 0/1962
?/? c.181-41A>G r.(=) p.(=) g.182928417A>G Copied from the Exome Variant Server PPP1R1C_000020 1/11904 0/8190 1/3714
?/? c.181-23T>C r.(=) p.(=) g.182928435T>C Copied from the Exome Variant Server PPP1R1C_000021 46/11928 1/8198 45/3730
?/? c.241+22G>T r.(=) p.(=) g.182928540G>T Copied from the Exome Variant Server PPP1R1C_000022 22/12180 0/8288 22/3892
?/? c.241+37G>C r.(=) p.(=) g.182928555G>C Copied from the Exome Variant Server PPP1R1C_000023 11267/12192 7947/8294 3320/3898
?/? c.242-38del r.(=) p.(=) g.182981896del Copied from the Exome Variant Server PPP1R1C_000024 30/10604 23/7326 7/3278
?/? c.268G>A r.(?) p.(Glu90Lys) g.182981960G>A Copied from the Exome Variant Server PPP1R1C_000025 5/11910 5/8188 0/3722
?/? c.276A>G r.(=) p.(=) g.182981968A>G Copied from the Exome Variant Server PPP1R1C_000026 3728/11948 1779/8200 1949/3748
?/? c.283_285del r.(?) p.(Glu98del) g.182981975_182981977del Copied from the Exome Variant Server PPP1R1C_000027 40/11450 23/7832 17/3618
?/? c.287A>C r.(?) p.(Glu96Ala) g.182981979A>C Copied from the Exome Variant Server PPP1R1C_000028 1/11976 1/8204 0/3772
?/? c.*3A>G r.(=) p.(=) g.182982025A>G Copied from the Exome Variant Server PPP1R1C_000029 1/11982 0/8190 1/3792
?/? c.*15C>A r.(=) p.(=) g.182982037C>A Copied from the Exome Variant Server PPP1R1C_000030 173/11958 161/8162 12/3796
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