Transcript #00000267

Transcript name transcript variant 1
Gene name POLG (polymerase (DNA directed), gamma)
Chromosome 15
Transcript - NCBI ID NM_002693.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_002684.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

772 entries on 8 pages. Showing entries 1 - 100.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.1A>G p.? - - - -
+/+ - 2/23 c.8G>C p.(Arg3Pro) possibly_damaging(0.453) missense_variant - deleterious(0)
./. - - c.8G>C p.(Arg3Pro) - - - -
./. - - c.13C>T p.(Leu5Phe) - - - -
./. - - c.15C>G p.(=) - - - -
./. - - c.17G>C p.(Trp6Ser) - - - -
./. - - c.29C>T p.(Ala10Val) - - - -
./. - - c.30C>T p.(=) - - - -
./. - - c.31G>A p.(Gly11Ser) - - - -
./. - - c.32G>A p.(Gly11Asp) - - - -
+?/+? - 2/23 c.32G>A p.(Gly11Asp) benign(0) missense_variant - deleterious(0.03)
./. - - c.32G>T p.(Gly11Val) - - - -
-/- - 2/23 c.52C>G p.(Pro18Ala) benign(0.001) missense_variant - tolerated(1)
-/- - 2/23 c.52C>T p.(Pro18Ser) benign(0.003) missense_variant - tolerated(0.59)
./. - - c.52C>T p.(Pro18Ser) - - - -
./. - - c.54G>C p.(=) - - - -
./. - - c.60A>C p.(=) - - - -
./. - - c.70C>T p.(Arg24Cys) - - - -
./. - - c.82A>T p.(Ser28Cys) - - - -
+?/+? - 2/23 c.82A>T p.(Ser28Cys) benign(0.039) missense_variant - deleterious(0.03)
./. - - c.112G>C p.(Gly38Arg) - - - -
./. - - c.125G>A p.(Arg42Gln) - - - -
./. - - c.125_139del p.(Arg42_Gln46del) - - - -
./. - - c.127_128insGGC p.(Arg42dup) - - - -
./. - - c.128A>G p.(Gln43Arg) - - - -
+?/+? - 2/23 c.128A>G p.(Gln43Arg) benign(0) missense_variant - tolerated(0.48)
./. - - c.131A>G p.(Gln44Arg) - - - -
./. - - c.133_134insGGC p.(Gln44_Gln45insArg) - - - -
./. - - c.134A>G p.(Gln45Arg) - - - -
+?/+? - 2/23 c.134A>G p.(Gln45Arg) benign(0) missense_variant - tolerated(0.68)
./. - - c.134_137delinsG p.(Gln45_Gln46delinsArg) - - - -
./. - - c.137A>G p.(Gln46Arg) - - - -
./. - - c.141_158del p.(Gln50_Gln55del) - - - -
./. - - c.144_158del p.(Gln51_Gln55del) - - - -
+?/+? - 2/23 c.145C>G p.(Gln49Glu) benign(0) missense_variant - tolerated(1)
./. - - c.147_158del p.(Gln52_Gln55del) - - - -
./. - - c.150G>A p.(=) - - - -
./. - - c.150_158del p.(Gln53_Gln55del) - - - -
./. - - c.153G>A p.(=) - - - -
./. - - c.153_158del p.(Gln54_Gln55del) - - - -
./. - - c.154C>A p.(Gln52Lys) - - - -
./. - - c.156_158del p.(Gln55del) - - - -
./. - - c.158A>C p.(Gln53Pro) - - - -
./. - - c.158_159insGCA p.(Gln55dup) - - - -
./. - - c.158_159insGCAGCA p.(Gln54_Gln55dup) - - - -
./. - - c.158_159insGCAGCAGCA p.(Gln53_Gln55dup) - - - -
./. - - c.158_159insGCAGCAGCAGCA p.(Gln52_Gln55dup) - - - -
./. - - c.158_159insGCAGCAGCAGCAGCA p.(Gln51_Gln55dup) - - - -
./. - - c.158_166del p.(Gln53_Gln55del) - - - -
./. - - c.159A>G p.(=) - - - -
./. - - c.159A>T p.(Gln53His) - - - -
./. - - c.166_167insAACAGCAGC p.(Gln53_Gln55dup) - - - -
./. - - c.166_167insAGCAGCAGCAGCAGCAACAGCAGC p.(Gln48_Gln55dup) - - - -
./. - - c.167C>G p.(Pro56Arg) - - - -
./. - - c.186A>G p.(=) - - - -
./. - - c.191C>G p.(Ser64Trp) - - - -
+?/+? - 2/23 c.191C>T p.(Ser64Leu) benign(0.004) missense_variant - tolerated(0.19)
+?/+? - 2/23 c.202C>T p.(Gln68*) - stop_gained - -
./. - - c.202C>T p.(Gln68*) - - - -
./. - - c.210G>T p.(=) - - - -
+?/+? - 2/23 c.235C>T p.(Leu79Phe) probably_damaging(0.999) missense_variant - deleterious(0.01)
./. - - c.237C>T p.(=) - - - -
+?/+? - 2/23 c.248T>C p.(Leu83Pro) probably_damaging(0.966) missense_variant - deleterious(0)
./. - - c.248T>C p.(Leu83Pro) - - - -
./. - - c.260T>C p.(Ile87Thr) - - - -
./. - - c.264C>G p.(Phe88Leu) - - - -
+?/+? - 2/23 c.264C>G p.(Phe88Leu) benign(0.071) missense_variant - deleterious(0.03)
./. - - c.264C>T p.(=) - - - -
./. - - c.328C>T p.(His110Tyr) - - - -
+?/+? - 2/23 c.328C>T p.(His110Tyr) probably_damaging(0.999) missense_variant - tolerated(0.17)
./. - - c.330C>T p.(=) - - - -
./. - - c.333G>T p.(=) - - - -
+?/+? - 2/23 c.337T>G p.(Trp113Gly) probably_damaging(0.999) missense_variant - tolerated(0.39)
./. - - c.347C>G p.(Pro116Arg) - - - -
./. - - c.360G>T p.(Leu120Phe) - - - -
./. - - c.384G>T p.(=) - - - -
./. - - c.388C>T p.(Leu130Phe) - - - -
./. - - c.391T>C p.(Tyr131His) - - - -
./. - - c.395G>A p.(Gly132Glu) - - - -
./. - - c.398A>G p.(Asp133Gly) - - - -
+?/+? - 2/23 c.408C>G p.(Asp136Glu) benign(0.063) missense_variant - tolerated(1)
./. - - c.418C>T p.(Arg140Cys) - - - -
+?/+? - 2/23 c.427G>T p.(Ala143Ser) probably_damaging(0.999) missense_variant - deleterious(0.02)
./. - - c.428C>T p.(Ala143Val) - - - -
./. - - c.431A>G p.(Gln144Arg) - - - -
./. - - c.460G>A p.(Ala154Thr) - - - -
./. - - c.470T>C p.(Leu157Pro) - - - -
+?/+? - 2/23 c.487C>T p.(Pro163Ser) possibly_damaging(0.786) missense_variant - deleterious(0)
./. - - c.488C>T p.(Pro163Leu) - - - -
./. - - c.516G>A p.(=) - - - -
./. - - c.528C>T p.(=) - - - -
./. - - c.538C>T p.(Pro180Ser) - - - -
./. - - c.578G>A p.(Arg193Gln) - - - -
-/- - 2/23 c.578G>A p.(Arg193Gln) benign(0.006) missense_variant - tolerated(0.47)
./. - - c.602T>G p.(Val201Gly) - - - -
./. - - c.611C>G p.(Ala204Gly) - - - -
./. - - c.635C>T p.(Ala212Val) - - - -
./. - - c.641C>T p.(Ala214Val) - - - -
./. - - c.646del p.(Ser216Profs*50) - - - -
./. - - c.653C>T p.(Ser218Leu) - - - -
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