Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.48905047C>A | CA412895059 | SLC35A2 | c.862G>T (p.Val288Phe) c.355-155G>T (n.355-155G>T) c.427-155G>T (n.427-155G>T) c.424G>T c.946G>T (p.Val316Phe) c.901G>T (p.Val301Phe) c.424+1345G>T c.679G>T (p.Val227Phe) c.*756G>T (n.*756G>T) | |
X | g.48905047C>G | CA412895060 | SLC35A2 | c.862G>C (p.Val288Leu) c.355-155G>C (n.355-155G>C) c.427-155G>C (n.427-155G>C) c.424G>C c.946G>C (p.Val316Leu) c.901G>C (p.Val301Leu) c.424+1345G>C c.679G>C (p.Val227Leu) c.*756G>C (n.*756G>C) | |
X | g.48905047C>T | CA412895061 | SLC35A2 | c.862G>A (p.Val288Ile) c.355-155G>A (n.355-155G>A) c.427-155G>A (n.427-155G>A) c.424G>A c.946G>A (p.Val316Ile) c.901G>A (p.Val301Ile) c.424+1345G>A c.679G>A (p.Val227Ile) c.*756G>A (n.*756G>A) | |
X | g.48905048C>A | CA516359941 | SLC35A2 | c.861G>T (p.Val287=) c.355-156G>T (n.355-156G>T) c.427-156G>T (n.427-156G>T) c.423G>T c.945G>T (p.Val315=) c.900G>T (p.Val300=) c.424+1344G>T c.678G>T (p.Val226=) c.*755G>T (n.*755G>T) | |
X | g.48905048C>G | CA516359942 | SLC35A2 | c.861G>C (p.Val287=) c.355-156G>C (n.355-156G>C) c.427-156G>C (n.427-156G>C) c.423G>C c.945G>C (p.Val315=) c.900G>C (p.Val300=) c.424+1344G>C c.678G>C (p.Val226=) c.*755G>C (n.*755G>C) | |
X | g.48905048C>T | CA516359943 | SLC35A2 | c.861G>A (p.Val287=) c.355-156G>A (n.355-156G>A) c.427-156G>A (n.427-156G>A) c.423G>A c.945G>A (p.Val315=) c.900G>A (p.Val300=) c.424+1344G>A c.678G>A (p.Val226=) c.*755G>A (n.*755G>A) | |
X | g.48905049A>C | CA412895063 | SLC35A2 | c.860T>G (p.Val287Gly) c.355-157T>G (n.355-157T>G) c.427-157T>G (n.427-157T>G) c.422T>G c.944T>G (p.Val315Gly) c.899T>G (p.Val300Gly) c.424+1343T>G c.677T>G (p.Val226Gly) c.*754T>G (n.*754T>G) | |
X | g.48905049A>G | CA412895064 | SLC35A2 | c.860T>C (p.Val287Ala) c.355-157T>C (n.355-157T>C) c.427-157T>C (n.427-157T>C) c.422T>C c.944T>C (p.Val315Ala) c.899T>C (p.Val300Ala) c.424+1343T>C c.677T>C (p.Val226Ala) c.*754T>C (n.*754T>C) | |
X | g.48905049A>T | CA412895062 | SLC35A2 | c.860T>A (p.Val287Glu) c.355-157T>A (n.355-157T>A) c.427-157T>A (n.427-157T>A) c.422T>A c.944T>A (p.Val315Glu) c.899T>A (p.Val300Glu) c.424+1343T>A c.677T>A (p.Val226Glu) c.*754T>A (n.*754T>A) | |
X | g.48905050C>A | CA412895065 | SLC35A2 | c.859G>T (p.Val287Leu) c.355-158G>T (n.355-158G>T) c.427-158G>T (n.427-158G>T) c.421G>T c.943G>T (p.Val315Leu) c.898G>T (p.Val300Leu) c.424+1342G>T c.676G>T (p.Val226Leu) c.*753G>T (n.*753G>T) | |
X | g.48905050C>G | CA412895067 | SLC35A2 | c.859G>C (p.Val287Leu) c.355-158G>C (n.355-158G>C) c.427-158G>C (n.427-158G>C) c.421G>C c.943G>C (p.Val315Leu) c.898G>C (p.Val300Leu) c.424+1342G>C c.676G>C (p.Val226Leu) c.*753G>C (n.*753G>C) | |
X | g.48905050C>T | CA412895066 | SLC35A2 | c.859G>A (p.Val287Met) c.355-158G>A (n.355-158G>A) c.427-158G>A (n.427-158G>A) c.421G>A c.943G>A (p.Val315Met) c.898G>A (p.Val300Met) c.424+1342G>A c.676G>A (p.Val226Met) c.*753G>A (n.*753G>A) | gnomAD v4 |
X | g.48905051A>C | CA516359944 | SLC35A2 | c.858T>G (p.Ala286=) c.355-159T>G (n.355-159T>G) c.427-159T>G (n.427-159T>G) c.420T>G c.942T>G (p.Ala314=) c.897T>G (p.Ala299=) c.424+1341T>G c.675T>G (p.Ala225=) c.*752T>G (n.*752T>G) | |
X | g.48905051A>G | CA516359945 | SLC35A2 | c.858T>C (p.Ala286=) c.355-159T>C (n.355-159T>C) c.427-159T>C (n.427-159T>C) c.420T>C c.942T>C (p.Ala314=) c.897T>C (p.Ala299=) c.424+1341T>C c.675T>C (p.Ala225=) c.*752T>C (n.*752T>C) | |
X | g.48905051A>T | CA516359946 | SLC35A2 | c.858T>A (p.Ala286=) c.355-159T>A (n.355-159T>A) c.427-159T>A (n.427-159T>A) c.420T>A c.942T>A (p.Ala314=) c.897T>A (p.Ala299=) c.424+1341T>A c.675T>A (p.Ala225=) c.*752T>A (n.*752T>A) | |
X | g.48905052G>A | CA412895068 | SLC35A2 | c.857C>T (p.Ala286Val) c.355-160C>T (n.355-160C>T) c.427-160C>T (n.427-160C>T) c.419C>T c.941C>T (p.Ala314Val) c.896C>T (p.Ala299Val) c.424+1340C>T c.674C>T (p.Ala225Val) c.*751C>T (n.*751C>T) | |
X | g.48905052G>C | CA412895069 | SLC35A2 | c.857C>G (p.Ala286Gly) c.355-160C>G (n.355-160C>G) c.427-160C>G (n.427-160C>G) c.419C>G c.941C>G (p.Ala314Gly) c.896C>G (p.Ala299Gly) c.424+1340C>G c.674C>G (p.Ala225Gly) c.*751C>G (n.*751C>G) | |
X | g.48905052G>T | CA412895070 | SLC35A2 | c.857C>A (p.Ala286Asp) c.355-160C>A (n.355-160C>A) c.427-160C>A (n.427-160C>A) c.419C>A c.941C>A (p.Ala314Asp) c.896C>A (p.Ala299Asp) c.424+1340C>A c.674C>A (p.Ala225Asp) c.*751C>A (n.*751C>A) | |
X | g.48905053C>A | CA412895071 | SLC35A2 | c.856G>T (p.Ala286Ser) c.355-161G>T (n.355-161G>T) c.427-161G>T (n.427-161G>T) c.418G>T c.940G>T (p.Ala314Ser) c.895G>T (p.Ala299Ser) c.424+1339G>T c.673G>T (p.Ala225Ser) c.*750G>T (n.*750G>T) | |
X | g.48905053C>G | CA412895072 | SLC35A2 | c.856G>C (p.Ala286Pro) c.355-161G>C (n.355-161G>C) c.427-161G>C (n.427-161G>C) c.418G>C c.940G>C (p.Ala314Pro) c.895G>C (p.Ala299Pro) c.424+1339G>C c.673G>C (p.Ala225Pro) c.*750G>C (n.*750G>C) | |
X | g.48905053C>T | CA412895073 | SLC35A2 | c.856G>A (p.Ala286Thr) c.355-161G>A (n.355-161G>A) c.427-161G>A (n.427-161G>A) c.418G>A c.940G>A (p.Ala314Thr) c.895G>A (p.Ala299Thr) c.424+1339G>A c.673G>A (p.Ala225Thr) c.*750G>A (n.*750G>A) | |
X | g.48905054del | CA2695233837 | SLC35A2 | c.856del (p.Ala286LeufsTer?) c.355-161del (n.355-161del) c.427-161del (n.427-161del) c.418del c.940del (p.Ala314LeufsTer?) c.895del (p.Ala299LeufsTer?) c.424+1339del c.673del (p.Ala225LeufsTer?) c.*750del (n.*750del) | |
X | g.48905054C>A | CA516359947 | SLC35A2 | c.855G>T (p.Val285=) c.355-162G>T (n.355-162G>T) c.427-162G>T (n.427-162G>T) c.417G>T c.939G>T (p.Val313=) c.894G>T (p.Val298=) c.424+1338G>T c.672G>T (p.Val224=) c.*749G>T (n.*749G>T) | |
X | g.48905054C= | CA2428428853 | SLC35A2 | c.855G= (p.Val285=) c.355-162G= (n.355-162G=) c.427-162G= (n.427-162G=) c.417G= c.939G= (p.Val313=) c.894G= (p.Val298=) c.424+1338G= c.672G= (p.Val224=) c.*749G= (n.*749G=) | |
X | g.48905054C>G | CA516359948 | SLC35A2 | c.855G>C (p.Val285=) c.355-162G>C (n.355-162G>C) c.427-162G>C (n.427-162G>C) c.417G>C c.939G>C (p.Val313=) c.894G>C (p.Val298=) c.424+1338G>C c.672G>C (p.Val224=) c.*749G>C (n.*749G>C) | |
X | g.48905054C>T | CA516359949 | SLC35A2 | c.855G>A (p.Val285=) c.355-162G>A (n.355-162G>A) c.427-162G>A (n.427-162G>A) c.417G>A c.939G>A (p.Val313=) c.894G>A (p.Val298=) c.424+1338G>A c.672G>A (p.Val224=) c.*749G>A (n.*749G>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48905055A>C | CA412895074 | SLC35A2 | c.854T>G (p.Val285Gly) c.355-163T>G (n.355-163T>G) c.427-163T>G (n.427-163T>G) c.416T>G c.938T>G (p.Val313Gly) c.893T>G (p.Val298Gly) c.424+1337T>G c.671T>G (p.Val224Gly) c.*748T>G (n.*748T>G) | |
X | g.48905055A>G | CA412895075 | SLC35A2 | c.854T>C (p.Val285Ala) c.355-163T>C (n.355-163T>C) c.427-163T>C (n.427-163T>C) c.416T>C c.938T>C (p.Val313Ala) c.893T>C (p.Val298Ala) c.424+1337T>C c.671T>C (p.Val224Ala) c.*748T>C (n.*748T>C) | |
X | g.48905055A>T | CA412895076 | SLC35A2 | c.854T>A (p.Val285Glu) c.355-163T>A (n.355-163T>A) c.427-163T>A (n.427-163T>A) c.416T>A c.938T>A (p.Val313Glu) c.893T>A (p.Val298Glu) c.424+1337T>A c.671T>A (p.Val224Glu) c.*748T>A (n.*748T>A) | |
X | g.48905056C>A | CA412895077 | SLC35A2 | c.853G>T (p.Val285Leu) c.355-164G>T (n.355-164G>T) c.427-164G>T (n.427-164G>T) c.415G>T c.937G>T (p.Val313Leu) c.892G>T (p.Val298Leu) c.424+1336G>T c.670G>T (p.Val224Leu) c.*747G>T (n.*747G>T) | |
X | g.48905056C>G | CA412895078 | SLC35A2 | c.853G>C (p.Val285Leu) c.355-164G>C (n.355-164G>C) c.427-164G>C (n.427-164G>C) c.415G>C c.937G>C (p.Val313Leu) c.892G>C (p.Val298Leu) c.424+1336G>C c.670G>C (p.Val224Leu) c.*747G>C (n.*747G>C) | |
X | g.48905056C>T | CA412895079 | SLC35A2 | c.853G>A (p.Val285Met) c.355-164G>A (n.355-164G>A) c.427-164G>A (n.427-164G>A) c.415G>A c.937G>A (p.Val313Met) c.892G>A (p.Val298Met) c.424+1336G>A c.670G>A (p.Val224Met) c.*747G>A (n.*747G>A) | |
X | g.48905057C>A | CA10406088 | SLC35A2 | c.852G>T (p.Leu284=) c.355-165G>T (n.355-165G>T) c.427-165G>T (n.427-165G>T) c.414G>T c.936G>T (p.Leu312=) c.891G>T (p.Leu297=) c.424+1335G>T c.669G>T (p.Leu223=) c.*746G>T (n.*746G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48905057C= | CA2428428854 | SLC35A2 | c.852G= (p.Leu284=) c.355-165G= (n.355-165G=) c.427-165G= (n.427-165G=) c.414G= c.936G= (p.Leu312=) c.891G= (p.Leu297=) c.424+1335G= c.669G= (p.Leu223=) c.*746G= (n.*746G=) | |
X | g.48905057C>G | CA516359952 | SLC35A2 | c.852G>C (p.Leu284=) c.355-165G>C (n.355-165G>C) c.427-165G>C (n.427-165G>C) c.414G>C c.936G>C (p.Leu312=) c.891G>C (p.Leu297=) c.424+1335G>C c.669G>C (p.Leu223=) c.*746G>C (n.*746G>C) | |
X | g.48905057C>T | CA516359951 | SLC35A2 | c.852G>A (p.Leu284=) c.355-165G>A (n.355-165G>A) c.427-165G>A (n.427-165G>A) c.414G>A c.936G>A (p.Leu312=) c.891G>A (p.Leu297=) c.424+1335G>A c.669G>A (p.Leu223=) c.*746G>A (n.*746G>A) | |
X | g.48905058A>C | CA412895080 | SLC35A2 | c.851T>G (p.Leu284Arg) c.355-166T>G (n.355-166T>G) c.427-166T>G (n.427-166T>G) c.413T>G c.935T>G (p.Leu312Arg) c.890T>G (p.Leu297Arg) c.424+1334T>G c.668T>G (p.Leu223Arg) c.*745T>G (n.*745T>G) | |
X | g.48905058A>G | CA412895081 | SLC35A2 | c.851T>C (p.Leu284Pro) c.355-166T>C (n.355-166T>C) c.427-166T>C (n.427-166T>C) c.413T>C c.935T>C (p.Leu312Pro) c.890T>C (p.Leu297Pro) c.424+1334T>C c.668T>C (p.Leu223Pro) c.*745T>C (n.*745T>C) | |
X | g.48905058A>T | CA412895082 | SLC35A2 | c.851T>A (p.Leu284Gln) c.355-166T>A (n.355-166T>A) c.427-166T>A (n.427-166T>A) c.413T>A c.935T>A (p.Leu312Gln) c.890T>A (p.Leu297Gln) c.424+1334T>A c.668T>A (p.Leu223Gln) c.*745T>A (n.*745T>A) | |
X | g.48905059G>A | CA516359953 | SLC35A2 | c.850C>T (p.Leu284=) c.355-167C>T (n.355-167C>T) c.427-167C>T (n.427-167C>T) c.412C>T c.934C>T (p.Leu312=) c.889C>T (p.Leu297=) c.424+1333C>T c.667C>T (p.Leu223=) c.*744C>T (n.*744C>T) | gnomAD v4 |
X | g.48905059G>C | CA412895083 | SLC35A2 | c.850C>G (p.Leu284Val) c.355-167C>G (n.355-167C>G) c.427-167C>G (n.427-167C>G) c.412C>G c.934C>G (p.Leu312Val) c.889C>G (p.Leu297Val) c.424+1333C>G c.667C>G (p.Leu223Val) c.*744C>G (n.*744C>G) | |
X | g.48905059G>T | CA412895084 | SLC35A2 | c.850C>A (p.Leu284Met) c.355-167C>A (n.355-167C>A) c.427-167C>A (n.427-167C>A) c.412C>A c.934C>A (p.Leu312Met) c.889C>A (p.Leu297Met) c.424+1333C>A c.667C>A (p.Leu223Met) c.*744C>A (n.*744C>A) | |
X | g.48905060T>A | CA516359954 | SLC35A2 | c.849A>T (p.Leu283=) c.355-168A>T (n.355-168A>T) c.427-168A>T (n.427-168A>T) c.411A>T c.933A>T (p.Leu311=) c.888A>T (p.Leu296=) c.424+1332A>T c.666A>T (p.Leu222=) c.*743A>T (n.*743A>T) | |
X | g.48905060T>C | CA516359955 | SLC35A2 | c.849A>G (p.Leu283=) c.355-168A>G (n.355-168A>G) c.427-168A>G (n.427-168A>G) c.411A>G c.933A>G (p.Leu311=) c.888A>G (p.Leu296=) c.424+1332A>G c.666A>G (p.Leu222=) c.*743A>G (n.*743A>G) | gnomAD v4 |
X | g.48905060T>G | CA516359956 | SLC35A2 | c.849A>C (p.Leu283=) c.355-168A>C (n.355-168A>C) c.427-168A>C (n.427-168A>C) c.411A>C c.933A>C (p.Leu311=) c.888A>C (p.Leu296=) c.424+1332A>C c.666A>C (p.Leu222=) c.*743A>C (n.*743A>C) | |
X | g.48905061A>C | CA412895085 | SLC35A2 | c.848T>G (p.Leu283Arg) c.355-169T>G (n.355-169T>G) c.427-169T>G (n.427-169T>G) c.410T>G c.932T>G (p.Leu311Arg) c.887T>G (p.Leu296Arg) c.424+1331T>G c.665T>G (p.Leu222Arg) c.*742T>G (n.*742T>G) | |
X | g.48905061A>G | CA412895086 | SLC35A2 | c.848T>C (p.Leu283Pro) c.355-169T>C (n.355-169T>C) c.427-169T>C (n.427-169T>C) c.410T>C c.932T>C (p.Leu311Pro) c.887T>C (p.Leu296Pro) c.424+1331T>C c.665T>C (p.Leu222Pro) c.*742T>C (n.*742T>C) | |
X | g.48905061A>T | CA412895087 | SLC35A2 | c.848T>A (p.Leu283Gln) c.355-169T>A (n.355-169T>A) c.427-169T>A (n.427-169T>A) c.410T>A c.932T>A (p.Leu311Gln) c.887T>A (p.Leu296Gln) c.424+1331T>A c.665T>A (p.Leu222Gln) c.*742T>A (n.*742T>A) | |
X | g.48905062G>A | CA516359957 | SLC35A2 | c.847C>T (p.Leu283=) c.355-170C>T (n.355-170C>T) c.427-170C>T (n.427-170C>T) c.409C>T c.931C>T (p.Leu311=) c.886C>T (p.Leu296=) c.424+1330C>T c.664C>T (p.Leu222=) c.*741C>T (n.*741C>T) | |
X | g.48905062G>C | CA412895088 | SLC35A2 | c.847C>G (p.Leu283Val) c.355-170C>G (n.355-170C>G) c.427-170C>G (n.427-170C>G) c.409C>G c.931C>G (p.Leu311Val) c.886C>G (p.Leu296Val) c.424+1330C>G c.664C>G (p.Leu222Val) c.*741C>G (n.*741C>G) | |
X | g.48905062G>T | CA412895089 | SLC35A2 | c.847C>A (p.Leu283Ile) c.355-170C>A (n.355-170C>A) c.427-170C>A (n.427-170C>A) c.409C>A c.931C>A (p.Leu311Ile) c.886C>A (p.Leu296Ile) c.424+1330C>A c.664C>A (p.Leu222Ile) c.*741C>A (n.*741C>A) | |
X | g.48905063C>A | CA516359958 | SLC35A2 | c.846G>T (p.Gly282=) c.355-171G>T (n.355-171G>T) c.427-171G>T (n.427-171G>T) c.408G>T c.930G>T (p.Gly310=) c.885G>T (p.Gly295=) c.424+1329G>T c.663G>T (p.Gly221=) c.*740G>T (n.*740G>T) | |
X | g.48905063C>G | CA516359959 | SLC35A2 | c.846G>C (p.Gly282=) c.355-171G>C (n.355-171G>C) c.427-171G>C (n.427-171G>C) c.408G>C c.930G>C (p.Gly310=) c.885G>C (p.Gly295=) c.424+1329G>C c.663G>C (p.Gly221=) c.*740G>C (n.*740G>C) | |
X | g.48905063C>T | CA516359960 | SLC35A2 | c.846G>A (p.Gly282=) c.355-171G>A (n.355-171G>A) c.427-171G>A (n.427-171G>A) c.408G>A c.930G>A (p.Gly310=) c.885G>A (p.Gly295=) c.424+1329G>A c.663G>A (p.Gly221=) c.*740G>A (n.*740G>A) | COSMIC |
X | g.48905064C>A | CA412895090 | SLC35A2 | c.845G>T (p.Gly282Val) c.355-172G>T (n.355-172G>T) c.427-172G>T (n.427-172G>T) c.407G>T c.929G>T (p.Gly310Val) c.884G>T (p.Gly295Val) c.424+1328G>T c.662G>T (p.Gly221Val) c.*739G>T (n.*739G>T) | |
X | g.48905064C>G | CA412895091 | SLC35A2 | c.845G>C (p.Gly282Ala) c.355-172G>C (n.355-172G>C) c.427-172G>C (n.427-172G>C) c.407G>C c.929G>C (p.Gly310Ala) c.884G>C (p.Gly295Ala) c.424+1328G>C c.662G>C (p.Gly221Ala) c.*739G>C (n.*739G>C) | |
X | g.48905064C>T | CA412895092 | SLC35A2 | c.845G>A (p.Gly282Glu) c.355-172G>A (n.355-172G>A) c.427-172G>A (n.427-172G>A) c.407G>A c.929G>A (p.Gly310Glu) c.884G>A (p.Gly295Glu) c.424+1328G>A c.662G>A (p.Gly221Glu) c.*739G>A (n.*739G>A) | |
X | g.48905065C>A | CA412895093 | SLC35A2 | c.844G>T (p.Gly282Trp) c.355-173G>T (n.355-173G>T) c.427-173G>T (n.427-173G>T) c.406G>T c.928G>T (p.Gly310Trp) c.883G>T (p.Gly295Trp) c.424+1327G>T c.661G>T (p.Gly221Trp) c.*738G>T (n.*738G>T) | COSMIC |
X | g.48905065C= | CA2428428855 | SLC35A2 | c.844G= (p.Gly282=) c.355-173G= (n.355-173G=) c.427-173G= (n.427-173G=) c.406G= c.928G= (p.Gly310=) c.883G= (p.Gly295=) c.424+1327G= c.661G= (p.Gly221=) c.*738G= (n.*738G=) | |
X | g.48905065C>G | CA412895095 | SLC35A2 | c.844G>C (p.Gly282Arg) c.355-173G>C (n.355-173G>C) c.427-173G>C (n.427-173G>C) c.406G>C c.928G>C (p.Gly310Arg) c.883G>C (p.Gly295Arg) c.424+1327G>C c.661G>C (p.Gly221Arg) c.*738G>C (n.*738G>C) | |
X | g.48905065C>T | CA412895094 | SLC35A2 | c.844G>A (p.Gly282Arg) c.355-173G>A (n.355-173G>A) c.427-173G>A (n.427-173G>A) c.406G>A c.928G>A (p.Gly310Arg) c.883G>A (p.Gly295Arg) c.424+1327G>A c.661G>A (p.Gly221Arg) c.*738G>A (n.*738G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.48905065_48905072delinsCGCCGAAG | CA2428428856 | SLC35A2 | c.837_844delinsCTTCGGCG (p.Ala279=) c.355-180_355-173delinsCTTCGGCG (n.355-180_355-173delinsCTTCGGCG) c.427-180_427-173delinsCTTCGGCG (n.427-180_427-173delinsCTTCGGCG) c.399_406delinsCTTCGGCG c.921_928delinsCTTCGGCG (p.Ala307=) c.876_883delinsCTTCGGCG (p.Ala292=) c.424+1320_424+1327delinsCTTCGGCG c.654_661delinsCTTCGGCG (p.Ala218=) c.*731_*738delinsCTTCGGCG (n.*731_*738delinsCTTCGGCG) | |
X | g.48905066G>A | CA10406089 | SLC35A2 | c.843C>T (p.Gly281=) c.355-174C>T (n.355-174C>T) c.427-174C>T (n.427-174C>T) c.405C>T c.927C>T (p.Gly309=) c.882C>T (p.Gly294=) c.424+1326C>T c.660C>T (p.Gly220=) c.*737C>T (n.*737C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48905066G>C | CA516359961 | SLC35A2 | c.843C>G (p.Gly281=) c.355-174C>G (n.355-174C>G) c.427-174C>G (n.427-174C>G) c.405C>G c.927C>G (p.Gly309=) c.882C>G (p.Gly294=) c.424+1326C>G c.660C>G (p.Gly220=) c.*737C>G (n.*737C>G) | |
X | g.48905066G= | CA2428428857 | SLC35A2 | c.843C= (p.Gly281=) c.355-174C= (n.355-174C=) c.427-174C= (n.427-174C=) c.405C= c.927C= (p.Gly309=) c.882C= (p.Gly294=) c.424+1326C= c.660C= (p.Gly220=) c.*737C= (n.*737C=) | |
X | g.48905066G>T | CA516359962 | SLC35A2 | c.843C>A (p.Gly281=) c.355-174C>A (n.355-174C>A) c.427-174C>A (n.427-174C>A) c.405C>A c.927C>A (p.Gly309=) c.882C>A (p.Gly294=) c.424+1326C>A c.660C>A (p.Gly220=) c.*737C>A (n.*737C>A) | gnomAD v4 |
X | g.48905069_48905075del | CA916083953 | SLC35A2 | c.837_843del (p.Phe280GlyfsTer?) c.355-180_355-174del (n.355-180_355-174del) c.427-180_427-174del (n.427-180_427-174del) c.399_405del c.921_927del (p.Phe308GlyfsTer?) c.876_882del (p.Phe293GlyfsTer?) c.424+1320_424+1326del c.654_660del (p.Phe219GlyfsTer?) c.*731_*737del (n.*731_*737del) | ClinVar dbSNP |
X | g.48905067C>A | CA412895096 | SLC35A2 | c.842G>T (p.Gly281Val) c.355-175G>T (n.355-175G>T) c.427-175G>T (n.427-175G>T) c.404G>T c.926G>T (p.Gly309Val) c.881G>T (p.Gly294Val) c.424+1325G>T c.659G>T (p.Gly220Val) c.*736G>T (n.*736G>T) | ClinVar |
X | g.48905067C>G | CA412895097 | SLC35A2 | c.842G>C (p.Gly281Ala) c.355-175G>C (n.355-175G>C) c.427-175G>C (n.427-175G>C) c.404G>C c.926G>C (p.Gly309Ala) c.881G>C (p.Gly294Ala) c.424+1325G>C c.659G>C (p.Gly220Ala) c.*736G>C (n.*736G>C) | |
X | g.48905067C>T | CA412895098 | SLC35A2 | c.842G>A (p.Gly281Asp) c.355-175G>A (n.355-175G>A) c.427-175G>A (n.427-175G>A) c.404G>A c.926G>A (p.Gly309Asp) c.881G>A (p.Gly294Asp) c.424+1325G>A c.659G>A (p.Gly220Asp) c.*736G>A (n.*736G>A) | |
X | g.48905068C>A | CA412895099 | SLC35A2 | c.841G>T (p.Gly281Cys) c.355-176G>T (n.355-176G>T) c.427-176G>T (n.427-176G>T) c.403G>T c.925G>T (p.Gly309Cys) c.880G>T (p.Gly294Cys) c.424+1324G>T c.658G>T (p.Gly220Cys) c.*735G>T (n.*735G>T) | |
X | g.48905068C= | CA2428428858 | SLC35A2 | c.841G= (p.Gly281=) c.355-176G= (n.355-176G=) c.427-176G= (n.427-176G=) c.403G= c.925G= (p.Gly309=) c.880G= (p.Gly294=) c.424+1324G= c.658G= (p.Gly220=) c.*735G= (n.*735G=) | |
X | g.48905068C>G | CA412895100 | SLC35A2 | c.841G>C (p.Gly281Arg) c.355-176G>C (n.355-176G>C) c.427-176G>C (n.427-176G>C) c.403G>C c.925G>C (p.Gly309Arg) c.880G>C (p.Gly294Arg) c.424+1324G>C c.658G>C (p.Gly220Arg) c.*735G>C (n.*735G>C) | COSMIC COSMIC |
X | g.48905068C>T | CA412895101 | SLC35A2 | c.841G>A (p.Gly281Ser) c.355-176G>A (n.355-176G>A) c.427-176G>A (n.427-176G>A) c.403G>A c.925G>A (p.Gly309Ser) c.880G>A (p.Gly294Ser) c.424+1324G>A c.658G>A (p.Gly220Ser) c.*735G>A (n.*735G>A) | ClinVar dbSNP |
X | g.48905069G>A | CA10406090 | SLC35A2 | c.840C>T (p.Phe280=) c.355-177C>T (n.355-177C>T) c.427-177C>T (n.427-177C>T) c.402C>T c.924C>T (p.Phe308=) c.879C>T (p.Phe293=) c.424+1323C>T c.657C>T (p.Phe219=) c.*734C>T (n.*734C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48905069G>C | CA412895102 | SLC35A2 | c.840C>G (p.Phe280Leu) c.355-177C>G (n.355-177C>G) c.427-177C>G (n.427-177C>G) c.402C>G c.924C>G (p.Phe308Leu) c.879C>G (p.Phe293Leu) c.424+1323C>G c.657C>G (p.Phe219Leu) c.*734C>G (n.*734C>G) | |
X | g.48905069G= | CA2428428859 | SLC35A2 | c.840C= (p.Phe280=) c.355-177C= (n.355-177C=) c.427-177C= (n.427-177C=) c.402C= c.924C= (p.Phe308=) c.879C= (p.Phe293=) c.424+1323C= c.657C= (p.Phe219=) c.*734C= (n.*734C=) | |
X | g.48905069G>T | CA412895103 | SLC35A2 | c.840C>A (p.Phe280Leu) c.355-177C>A (n.355-177C>A) c.427-177C>A (n.427-177C>A) c.402C>A c.924C>A (p.Phe308Leu) c.879C>A (p.Phe293Leu) c.424+1323C>A c.657C>A (p.Phe219Leu) c.*734C>A (n.*734C>A) | |
X | g.48905070A>C | CA412895104 | SLC35A2 | c.839T>G (p.Phe280Cys) c.355-178T>G (n.355-178T>G) c.427-178T>G (n.427-178T>G) c.401T>G c.923T>G (p.Phe308Cys) c.878T>G (p.Phe293Cys) c.424+1322T>G c.656T>G (p.Phe219Cys) c.*733T>G (n.*733T>G) | |
X | g.48905070A>G | CA412895105 | SLC35A2 | c.839T>C (p.Phe280Ser) c.355-178T>C (n.355-178T>C) c.427-178T>C (n.427-178T>C) c.401T>C c.923T>C (p.Phe308Ser) c.878T>C (p.Phe293Ser) c.424+1322T>C c.656T>C (p.Phe219Ser) c.*733T>C (n.*733T>C) | |
X | g.48905070A>T | CA412895106 | SLC35A2 | c.839T>A (p.Phe280Tyr) c.355-178T>A (n.355-178T>A) c.427-178T>A (n.427-178T>A) c.401T>A c.923T>A (p.Phe308Tyr) c.878T>A (p.Phe293Tyr) c.424+1322T>A c.656T>A (p.Phe219Tyr) c.*733T>A (n.*733T>A) | |
X | g.48905071A= | CA2428428860 | SLC35A2 | c.838T= (p.Phe280=) c.355-179T= (n.355-179T=) c.427-179T= (n.427-179T=) c.400T= c.922T= (p.Phe308=) c.877T= (p.Phe293=) c.424+1321T= c.655T= (p.Phe219=) c.*732T= (n.*732T=) | |
X | g.48905071A>C | CA412895107 | SLC35A2 | c.838T>G (p.Phe280Val) c.355-179T>G (n.355-179T>G) c.427-179T>G (n.427-179T>G) c.400T>G c.922T>G (p.Phe308Val) c.877T>G (p.Phe293Val) c.424+1321T>G c.655T>G (p.Phe219Val) c.*732T>G (n.*732T>G) | |
X | g.48905071A>G | CA412895109 | SLC35A2 | c.838T>C (p.Phe280Leu) c.355-179T>C (n.355-179T>C) c.427-179T>C (n.427-179T>C) c.400T>C c.922T>C (p.Phe308Leu) c.877T>C (p.Phe293Leu) c.424+1321T>C c.655T>C (p.Phe219Leu) c.*732T>C (n.*732T>C) | dbSNP gnomAD v4 |
X | g.48905071A>T | CA412895108 | SLC35A2 | c.838T>A (p.Phe280Ile) c.355-179T>A (n.355-179T>A) c.427-179T>A (n.427-179T>A) c.400T>A c.922T>A (p.Phe308Ile) c.877T>A (p.Phe293Ile) c.424+1321T>A c.655T>A (p.Phe219Ile) c.*732T>A (n.*732T>A) | |
X | g.48905072G>A | CA516359967 | SLC35A2 | c.837C>T (p.Ala279=) c.355-180C>T (n.355-180C>T) c.427-180C>T (n.427-180C>T) c.399C>T c.921C>T (p.Ala307=) c.876C>T (p.Ala292=) c.424+1320C>T c.654C>T (p.Ala218=) c.*731C>T (n.*731C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48905072G>C | CA516359968 | SLC35A2 | c.837C>G (p.Ala279=) c.355-180C>G (n.355-180C>G) c.427-180C>G (n.427-180C>G) c.399C>G c.921C>G (p.Ala307=) c.876C>G (p.Ala292=) c.424+1320C>G c.654C>G (p.Ala218=) c.*731C>G (n.*731C>G) | gnomAD v4 |
X | g.48905072G= | CA2428428861 | SLC35A2 | c.837C= (p.Ala279=) c.355-180C= (n.355-180C=) c.427-180C= (n.427-180C=) c.399C= c.921C= (p.Ala307=) c.876C= (p.Ala292=) c.424+1320C= c.654C= (p.Ala218=) c.*731C= (n.*731C=) | |
X | g.48905072G>T | CA516359969 | SLC35A2 | c.837C>A (p.Ala279=) c.355-180C>A (n.355-180C>A) c.427-180C>A (n.427-180C>A) c.399C>A c.921C>A (p.Ala307=) c.876C>A (p.Ala292=) c.424+1320C>A c.654C>A (p.Ala218=) c.*731C>A (n.*731C>A) | |
X | g.48905073G>A | CA412895110 | SLC35A2 | c.836C>T (p.Ala279Val) c.355-181C>T (n.355-181C>T) c.427-181C>T (n.427-181C>T) c.398C>T c.920C>T (p.Ala307Val) c.875C>T (p.Ala292Val) c.424+1319C>T c.653C>T (p.Ala218Val) c.*730C>T (n.*730C>T) | |
X | g.48905073G>C | CA412895111 | SLC35A2 | c.836C>G (p.Ala279Gly) c.355-181C>G (n.355-181C>G) c.427-181C>G (n.427-181C>G) c.398C>G c.920C>G (p.Ala307Gly) c.875C>G (p.Ala292Gly) c.424+1319C>G c.653C>G (p.Ala218Gly) c.*730C>G (n.*730C>G) | |
X | g.48905073G>T | CA412895112 | SLC35A2 | c.836C>A (p.Ala279Asp) c.355-181C>A (n.355-181C>A) c.427-181C>A (n.427-181C>A) c.398C>A c.920C>A (p.Ala307Asp) c.875C>A (p.Ala292Asp) c.424+1319C>A c.653C>A (p.Ala218Asp) c.*730C>A (n.*730C>A) | |
X | g.48905074C>A | CA412895113 | SLC35A2 | c.835G>T (p.Ala279Ser) c.355-182G>T (n.355-182G>T) c.427-182G>T (n.427-182G>T) c.397G>T c.919G>T (p.Ala307Ser) c.874G>T (p.Ala292Ser) c.424+1318G>T c.652G>T (p.Ala218Ser) c.*729G>T (n.*729G>T) | |
X | g.48905074C>G | CA412895114 | SLC35A2 | c.835G>C (p.Ala279Pro) c.355-182G>C (n.355-182G>C) c.427-182G>C (n.427-182G>C) c.397G>C c.919G>C (p.Ala307Pro) c.874G>C (p.Ala292Pro) c.424+1318G>C c.652G>C (p.Ala218Pro) c.*729G>C (n.*729G>C) | |
X | g.48905074C>T | CA412895115 | SLC35A2 | c.835G>A (p.Ala279Thr) c.355-182G>A (n.355-182G>A) c.427-182G>A (n.427-182G>A) c.397G>A c.919G>A (p.Ala307Thr) c.874G>A (p.Ala292Thr) c.424+1318G>A c.652G>A (p.Ala218Thr) c.*729G>A (n.*729G>A) | |
X | g.48905075C>A | CA412895116 | SLC35A2 | c.834G>T (p.Gln278His) c.355-183G>T (n.355-183G>T) c.427-183G>T (n.427-183G>T) c.396G>T c.918G>T (p.Gln306His) c.873G>T (p.Gln291His) c.424+1317G>T c.651G>T (p.Gln217His) c.*728G>T (n.*728G>T) | |
X | g.48905075C>G | CA412895117 | SLC35A2 | c.834G>C (p.Gln278His) c.355-183G>C (n.355-183G>C) c.427-183G>C (n.427-183G>C) c.396G>C c.918G>C (p.Gln306His) c.873G>C (p.Gln291His) c.424+1317G>C c.651G>C (p.Gln217His) c.*728G>C (n.*728G>C) | |
X | g.48905075C>T | CA516359971 | SLC35A2 | c.834G>A (p.Gln278=) c.355-183G>A (n.355-183G>A) c.427-183G>A (n.427-183G>A) c.396G>A c.918G>A (p.Gln306=) c.873G>A (p.Gln291=) c.424+1317G>A c.651G>A (p.Gln217=) c.*728G>A (n.*728G>A) | |
X | g.48905076T>A | CA412895118 | SLC35A2 | c.833A>T (p.Gln278Leu) c.355-184A>T (n.355-184A>T) c.427-184A>T (n.427-184A>T) c.395A>T c.917A>T (p.Gln306Leu) c.872A>T (p.Gln291Leu) c.424+1316A>T c.650A>T (p.Gln217Leu) c.*727A>T (n.*727A>T) | |
X | g.48905076T>C | CA412895119 | SLC35A2 | c.833A>G (p.Gln278Arg) c.355-184A>G (n.355-184A>G) c.427-184A>G (n.427-184A>G) c.395A>G c.917A>G (p.Gln306Arg) c.872A>G (p.Gln291Arg) c.424+1316A>G c.650A>G (p.Gln217Arg) c.*727A>G (n.*727A>G) | |
X | g.48905076T>G | CA412895120 | SLC35A2 | c.833A>C (p.Gln278Pro) c.355-184A>C (n.355-184A>C) c.427-184A>C (n.427-184A>C) c.395A>C c.917A>C (p.Gln306Pro) c.872A>C (p.Gln291Pro) c.424+1316A>C c.650A>C (p.Gln217Pro) c.*727A>C (n.*727A>C) | |
X | g.48905077G>A | CA412895122 | SLC35A2 | c.832C>T (p.Gln278Ter) c.355-185C>T (n.355-185C>T) c.427-185C>T (n.427-185C>T) c.394C>T c.916C>T (p.Gln306Ter) c.871C>T (p.Gln291Ter) c.424+1315C>T c.649C>T (p.Gln217Ter) c.*726C>T (n.*726C>T) | ClinVar |
X | g.48905077G>C | CA412895123 | SLC35A2 | c.832C>G (p.Gln278Glu) c.355-185C>G (n.355-185C>G) c.427-185C>G (n.427-185C>G) c.394C>G c.916C>G (p.Gln306Glu) c.871C>G (p.Gln291Glu) c.424+1315C>G c.649C>G (p.Gln217Glu) c.*726C>G (n.*726C>G) | |
X | g.48905077G>T | CA412895121 | SLC35A2 | c.832C>A (p.Gln278Lys) c.355-185C>A (n.355-185C>A) c.427-185C>A (n.427-185C>A) c.394C>A c.916C>A (p.Gln306Lys) c.871C>A (p.Gln291Lys) c.424+1315C>A c.649C>A (p.Gln217Lys) c.*726C>A (n.*726C>A) | |
X | g.48905078G>A | CA516359977 | SLC35A2 | c.831C>T (p.Asn277=) c.355-186C>T (n.355-186C>T) c.427-186C>T (n.427-186C>T) c.393C>T c.915C>T (p.Asn305=) c.870C>T (p.Asn290=) c.424+1314C>T c.648C>T (p.Asn216=) c.*725C>T (n.*725C>T) | ClinVar dbSNP gnomAD v4 |
X | g.48905078G>C | CA412895125 | SLC35A2 | c.831C>G (p.Asn277Lys) c.355-186C>G (n.355-186C>G) c.427-186C>G (n.427-186C>G) c.393C>G c.915C>G (p.Asn305Lys) c.870C>G (p.Asn290Lys) c.424+1314C>G c.648C>G (p.Asn216Lys) c.*725C>G (n.*725C>G) | |
X | g.48905078G= | CA2428428862 | SLC35A2 | c.831C= (p.Asn277=) c.355-186C= (n.355-186C=) c.427-186C= (n.427-186C=) c.393C= c.915C= (p.Asn305=) c.870C= (p.Asn290=) c.424+1314C= c.648C= (p.Asn216=) c.*725C= (n.*725C=) | |
X | g.48905078G>T | CA412895124 | SLC35A2 | c.831C>A (p.Asn277Lys) c.355-186C>A (n.355-186C>A) c.427-186C>A (n.427-186C>A) c.393C>A c.915C>A (p.Asn305Lys) c.870C>A (p.Asn290Lys) c.424+1314C>A c.648C>A (p.Asn216Lys) c.*725C>A (n.*725C>A) | |
X | g.48905079T>A | CA412895127 | SLC35A2 | c.830A>T (p.Asn277Ile) c.355-187A>T (n.355-187A>T) c.427-187A>T (n.427-187A>T) c.392A>T c.914A>T (p.Asn305Ile) c.869A>T (p.Asn290Ile) c.424+1313A>T c.647A>T (p.Asn216Ile) c.*724A>T (n.*724A>T) | |
X | g.48905079T>C | CA412895126 | SLC35A2 | c.830A>G (p.Asn277Ser) c.355-187A>G (n.355-187A>G) c.427-187A>G (n.427-187A>G) c.392A>G c.914A>G (p.Asn305Ser) c.869A>G (p.Asn290Ser) c.424+1313A>G c.647A>G (p.Asn216Ser) c.*724A>G (n.*724A>G) | |
X | g.48905079T>G | CA412895128 | SLC35A2 | c.830A>C (p.Asn277Thr) c.355-187A>C (n.355-187A>C) c.427-187A>C (n.427-187A>C) c.392A>C c.914A>C (p.Asn305Thr) c.869A>C (p.Asn290Thr) c.424+1313A>C c.647A>C (p.Asn216Thr) c.*724A>C (n.*724A>C) | |
X | g.48905080T>A | CA412895129 | SLC35A2 | c.829A>T (p.Asn277Tyr) c.355-188A>T (n.355-188A>T) c.427-188A>T (n.427-188A>T) c.391A>T c.913A>T (p.Asn305Tyr) c.868A>T (p.Asn290Tyr) c.424+1312A>T c.646A>T (p.Asn216Tyr) c.*723A>T (n.*723A>T) | |
X | g.48905080T>C | CA412895131 | SLC35A2 | c.829A>G (p.Asn277Asp) c.355-188A>G (n.355-188A>G) c.427-188A>G (n.427-188A>G) c.391A>G c.913A>G (p.Asn305Asp) c.868A>G (p.Asn290Asp) c.424+1312A>G c.646A>G (p.Asn216Asp) c.*723A>G (n.*723A>G) | |
X | g.48905080T>G | CA412895130 | SLC35A2 | c.829A>C (p.Asn277His) c.355-188A>C (n.355-188A>C) c.427-188A>C (n.427-188A>C) c.391A>C c.913A>C (p.Asn305His) c.868A>C (p.Asn290His) c.424+1312A>C c.646A>C (p.Asn216His) c.*723A>C (n.*723A>C) | |
X | g.48905081G>A | CA10406091 | SLC35A2 | c.828C>T (p.Leu276=) c.355-189C>T (n.355-189C>T) c.427-189C>T (n.427-189C>T) c.390C>T c.912C>T (p.Leu304=) c.867C>T (p.Leu289=) c.424+1311C>T c.645C>T (p.Leu215=) c.*722C>T (n.*722C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48905081G>C | CA516359980 | SLC35A2 | c.828C>G (p.Leu276=) c.355-189C>G (n.355-189C>G) c.427-189C>G (n.427-189C>G) c.390C>G c.912C>G (p.Leu304=) c.867C>G (p.Leu289=) c.424+1311C>G c.645C>G (p.Leu215=) c.*722C>G (n.*722C>G) | |
X | g.48905081G= | CA2428428863 | SLC35A2 | c.828C= (p.Leu276=) c.355-189C= (n.355-189C=) c.427-189C= (n.427-189C=) c.390C= c.912C= (p.Leu304=) c.867C= (p.Leu289=) c.424+1311C= c.645C= (p.Leu215=) c.*722C= (n.*722C=) | |
X | g.48905081G>T | CA516359979 | SLC35A2 | c.828C>A (p.Leu276=) c.355-189C>A (n.355-189C>A) c.427-189C>A (n.427-189C>A) c.390C>A c.912C>A (p.Leu304=) c.867C>A (p.Leu289=) c.424+1311C>A c.645C>A (p.Leu215=) c.*722C>A (n.*722C>A) | |
X | g.48905082A>C | CA412895132 | SLC35A2 | c.827T>G (p.Leu276Arg) c.355-190T>G (n.355-190T>G) c.427-190T>G (n.427-190T>G) c.389T>G c.911T>G (p.Leu304Arg) c.866T>G (p.Leu289Arg) c.424+1310T>G c.644T>G (p.Leu215Arg) c.*721T>G (n.*721T>G) | |
X | g.48905082A>G | CA412895133 | SLC35A2 | c.827T>C (p.Leu276Pro) c.355-190T>C (n.355-190T>C) c.427-190T>C (n.427-190T>C) c.389T>C c.911T>C (p.Leu304Pro) c.866T>C (p.Leu289Pro) c.424+1310T>C c.644T>C (p.Leu215Pro) c.*721T>C (n.*721T>C) | |
X | g.48905082A>T | CA412895134 | SLC35A2 | c.827T>A (p.Leu276His) c.355-190T>A (n.355-190T>A) c.427-190T>A (n.427-190T>A) c.389T>A c.911T>A (p.Leu304His) c.866T>A (p.Leu289His) c.424+1310T>A c.644T>A (p.Leu215His) c.*721T>A (n.*721T>A) | |
X | g.48905083G>A | CA10406092 | SLC35A2 | c.826C>T (p.Leu276Phe) c.355-191C>T (n.355-191C>T) c.427-191C>T (n.427-191C>T) c.388C>T c.910C>T (p.Leu304Phe) c.865C>T (p.Leu289Phe) c.424+1309C>T c.643C>T (p.Leu215Phe) c.*720C>T (n.*720C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48905083G>C | CA412895135 | SLC35A2 | c.826C>G (p.Leu276Val) c.355-191C>G (n.355-191C>G) c.427-191C>G (n.427-191C>G) c.388C>G c.910C>G (p.Leu304Val) c.865C>G (p.Leu289Val) c.424+1309C>G c.643C>G (p.Leu215Val) c.*720C>G (n.*720C>G) | |
X | g.48905083G= | CA2428428864 | SLC35A2 | c.826C= (p.Leu276=) c.355-191C= (n.355-191C=) c.427-191C= (n.427-191C=) c.388C= c.910C= (p.Leu304=) c.865C= (p.Leu289=) c.424+1309C= c.643C= (p.Leu215=) c.*720C= (n.*720C=) | |
X | g.48905083G>T | CA412895136 | SLC35A2 | c.826C>A (p.Leu276Ile) c.355-191C>A (n.355-191C>A) c.427-191C>A (n.427-191C>A) c.388C>A c.910C>A (p.Leu304Ile) c.865C>A (p.Leu289Ile) c.424+1309C>A c.643C>A (p.Leu215Ile) c.*720C>A (n.*720C>A) | |
X | g.48905084C>A | CA516359984 | SLC35A2 | c.825G>T (p.Val275=) c.355-192G>T (n.355-192G>T) c.427-192G>T (n.427-192G>T) c.387G>T c.909G>T (p.Val303=) c.864G>T (p.Val288=) c.424+1308G>T c.642G>T (p.Val214=) c.*719G>T (n.*719G>T) | |
X | g.48905084C= | CA2428428865 | SLC35A2 | c.825G= (p.Val275=) c.355-192G= (n.355-192G=) c.427-192G= (n.427-192G=) c.387G= c.909G= (p.Val303=) c.864G= (p.Val288=) c.424+1308G= c.642G= (p.Val214=) c.*719G= (n.*719G=) | |
X | g.48905084C>G | CA516359986 | SLC35A2 | c.825G>C (p.Val275=) c.355-192G>C (n.355-192G>C) c.427-192G>C (n.427-192G>C) c.387G>C c.909G>C (p.Val303=) c.864G>C (p.Val288=) c.424+1308G>C c.642G>C (p.Val214=) c.*719G>C (n.*719G>C) | ClinVar dbSNP gnomAD v4 |
X | g.48905084C>T | CA516359985 | SLC35A2 | c.825G>A (p.Val275=) c.355-192G>A (n.355-192G>A) c.427-192G>A (n.427-192G>A) c.387G>A c.909G>A (p.Val303=) c.864G>A (p.Val288=) c.424+1308G>A c.642G>A (p.Val214=) c.*719G>A (n.*719G>A) | |
X | g.48905085A>C | CA412895137 | SLC35A2 | c.824T>G (p.Val275Gly) c.355-193T>G (n.355-193T>G) c.427-193T>G (n.427-193T>G) c.386T>G c.908T>G (p.Val303Gly) c.863T>G (p.Val288Gly) c.424+1307T>G c.641T>G (p.Val214Gly) c.*718T>G (n.*718T>G) | |
X | g.48905085A>G | CA412895138 | SLC35A2 | c.824T>C (p.Val275Ala) c.355-193T>C (n.355-193T>C) c.427-193T>C (n.427-193T>C) c.386T>C c.908T>C (p.Val303Ala) c.863T>C (p.Val288Ala) c.424+1307T>C c.641T>C (p.Val214Ala) c.*718T>C (n.*718T>C) | |
X | g.48905085A>T | CA412895139 | SLC35A2 | c.824T>A (p.Val275Glu) c.355-193T>A (n.355-193T>A) c.427-193T>A (n.427-193T>A) c.386T>A c.908T>A (p.Val303Glu) c.863T>A (p.Val288Glu) c.424+1307T>A c.641T>A (p.Val214Glu) c.*718T>A (n.*718T>A) | |
X | g.48905086C>A | CA412895142 | SLC35A2 | c.823G>T (p.Val275Leu) c.355-194G>T (n.355-194G>T) c.427-194G>T (n.427-194G>T) c.385G>T c.907G>T (p.Val303Leu) c.862G>T (p.Val288Leu) c.424+1306G>T c.640G>T (p.Val214Leu) c.*717G>T (n.*717G>T) | |
X | g.48905086C>G | CA412895140 | SLC35A2 | c.823G>C (p.Val275Leu) c.355-194G>C (n.355-194G>C) c.427-194G>C (n.427-194G>C) c.385G>C c.907G>C (p.Val303Leu) c.862G>C (p.Val288Leu) c.424+1306G>C c.640G>C (p.Val214Leu) c.*717G>C (n.*717G>C) | |
X | g.48905086C>T | CA412895141 | SLC35A2 | c.823G>A (p.Val275Met) c.355-194G>A (n.355-194G>A) c.427-194G>A (n.427-194G>A) c.385G>A c.907G>A (p.Val303Met) c.862G>A (p.Val288Met) c.424+1306G>A c.640G>A (p.Val214Met) c.*717G>A (n.*717G>A) | |
X | g.48905087C>A | CA516359990 | SLC35A2 | c.822G>T (p.Val274=) c.355-195G>T (n.355-195G>T) c.427-195G>T (n.427-195G>T) c.384G>T c.906G>T (p.Val302=) c.861G>T (p.Val287=) c.424+1305G>T c.639G>T (p.Val213=) c.*716G>T (n.*716G>T) | |
X | g.48905087C= | CA2428428866 | SLC35A2 | c.822G= (p.Val274=) c.355-195G= (n.355-195G=) c.427-195G= (n.427-195G=) c.384G= c.906G= (p.Val302=) c.861G= (p.Val287=) c.424+1305G= c.639G= (p.Val213=) c.*716G= (n.*716G=) | |
X | g.48905087C>G | CA516359991 | SLC35A2 | c.822G>C (p.Val274=) c.355-195G>C (n.355-195G>C) c.427-195G>C (n.427-195G>C) c.384G>C c.906G>C (p.Val302=) c.861G>C (p.Val287=) c.424+1305G>C c.639G>C (p.Val213=) c.*716G>C (n.*716G>C) | |
X | g.48905087C>T | CA10406093 | SLC35A2 | c.822G>A (p.Val274=) c.355-195G>A (n.355-195G>A) c.427-195G>A (n.427-195G>A) c.384G>A c.906G>A (p.Val302=) c.861G>A (p.Val287=) c.424+1305G>A c.639G>A (p.Val213=) c.*716G>A (n.*716G>A) | dbSNP ExAC gnomAD v2 |
X | g.48905088A>C | CA412895143 | SLC35A2 | c.821T>G (p.Val274Gly) c.355-196T>G (n.355-196T>G) c.427-196T>G (n.427-196T>G) c.383T>G c.905T>G (p.Val302Gly) c.860T>G (p.Val287Gly) c.424+1304T>G c.638T>G (p.Val213Gly) c.*715T>G (n.*715T>G) | |
X | g.48905088A>G | CA412895144 | SLC35A2 | c.821T>C (p.Val274Ala) c.355-196T>C (n.355-196T>C) c.427-196T>C (n.427-196T>C) c.383T>C c.905T>C (p.Val302Ala) c.860T>C (p.Val287Ala) c.424+1304T>C c.638T>C (p.Val213Ala) c.*715T>C (n.*715T>C) | COSMIC COSMIC |
X | g.48905088A>T | CA412895145 | SLC35A2 | c.821T>A (p.Val274Glu) c.355-196T>A (n.355-196T>A) c.427-196T>A (n.427-196T>A) c.383T>A c.905T>A (p.Val302Glu) c.860T>A (p.Val287Glu) c.424+1304T>A c.638T>A (p.Val213Glu) c.*715T>A (n.*715T>A) | |
X | g.48905089C>A | CA412895146 | SLC35A2 | c.820G>T (p.Val274Leu) c.355-197G>T (n.355-197G>T) c.427-197G>T (n.427-197G>T) c.382G>T c.904G>T (p.Val302Leu) c.859G>T (p.Val287Leu) c.424+1303G>T c.637G>T (p.Val213Leu) c.*714G>T (n.*714G>T) | dbSNP |
X | g.48905089C= | CA2428428867 | SLC35A2 | c.820G= (p.Val274=) c.355-197G= (n.355-197G=) c.427-197G= (n.427-197G=) c.382G= c.904G= (p.Val302=) c.859G= (p.Val287=) c.424+1303G= c.637G= (p.Val213=) c.*714G= (n.*714G=) | |
X | g.48905089C>G | CA412895147 | SLC35A2 | c.820G>C (p.Val274Leu) c.355-197G>C (n.355-197G>C) c.427-197G>C (n.427-197G>C) c.382G>C c.904G>C (p.Val302Leu) c.859G>C (p.Val287Leu) c.424+1303G>C c.637G>C (p.Val213Leu) c.*714G>C (n.*714G>C) | |
X | g.48905089C>T | CA412895148 | SLC35A2 | c.820G>A (p.Val274Met) c.355-197G>A (n.355-197G>A) c.427-197G>A (n.427-197G>A) c.382G>A c.904G>A (p.Val302Met) c.859G>A (p.Val287Met) c.424+1303G>A c.637G>A (p.Val213Met) c.*714G>A (n.*714G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
X | g.48905090G>A | CA516359996 | SLC35A2 | c.819C>T (p.Gly273=) c.355-198C>T (n.355-198C>T) c.427-198C>T (n.427-198C>T) c.381C>T c.903C>T (p.Gly301=) c.858C>T (p.Gly286=) c.424+1302C>T c.636C>T (p.Gly212=) c.*713C>T (n.*713C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.48905090G>C | CA516359997 | SLC35A2 | c.819C>G (p.Gly273=) c.355-198C>G (n.355-198C>G) c.427-198C>G (n.427-198C>G) c.381C>G c.903C>G (p.Gly301=) c.858C>G (p.Gly286=) c.424+1302C>G c.636C>G (p.Gly212=) c.*713C>G (n.*713C>G) | ClinVar |
X | g.48905090G= | CA2428428868 | SLC35A2 | c.819C= (p.Gly273=) c.355-198C= (n.355-198C=) c.427-198C= (n.427-198C=) c.381C= c.903C= (p.Gly301=) c.858C= (p.Gly286=) c.424+1302C= c.636C= (p.Gly212=) c.*713C= (n.*713C=) | |
X | g.48905090G>T | CA516359998 | SLC35A2 | c.819C>A (p.Gly273=) c.355-198C>A (n.355-198C>A) c.427-198C>A (n.427-198C>A) c.381C>A c.903C>A (p.Gly301=) c.858C>A (p.Gly286=) c.424+1302C>A c.636C>A (p.Gly212=) c.*713C>A (n.*713C>A) | |
X | g.48905091C>A | CA412895149 | SLC35A2 | c.818G>T (p.Gly273Val) c.355-199G>T (n.355-199G>T) c.427-199G>T (n.427-199G>T) c.380G>T c.902G>T (p.Gly301Val) c.857G>T (p.Gly286Val) c.424+1301G>T c.635G>T (p.Gly212Val) c.*712G>T (n.*712G>T) | |
X | g.48905091C= | CA2428428869 | SLC35A2 | c.818G= (p.Gly273=) c.355-199G= (n.355-199G=) c.427-199G= (n.427-199G=) c.380G= c.902G= (p.Gly301=) c.857G= (p.Gly286=) c.424+1301G= c.635G= (p.Gly212=) c.*712G= (n.*712G=) | |
X | g.48905091C>G | CA412895150 | SLC35A2 | c.818G>C (p.Gly273Ala) c.355-199G>C (n.355-199G>C) c.427-199G>C (n.427-199G>C) c.380G>C c.902G>C (p.Gly301Ala) c.857G>C (p.Gly286Ala) c.424+1301G>C c.635G>C (p.Gly212Ala) c.*712G>C (n.*712G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.48905091C>T | CA412895151 | SLC35A2 | c.818G>A (p.Gly273Asp) c.355-199G>A (n.355-199G>A) c.427-199G>A (n.427-199G>A) c.380G>A c.902G>A (p.Gly301Asp) c.857G>A (p.Gly286Asp) c.424+1301G>A c.635G>A (p.Gly212Asp) c.*712G>A (n.*712G>A) | ClinVar dbSNP |
X | g.48905092C>A | CA412895153 | SLC35A2 | c.817G>T (p.Gly273Cys) c.355-200G>T (n.355-200G>T) c.427-200G>T (n.427-200G>T) c.379G>T c.901G>T (p.Gly301Cys) c.856G>T (p.Gly286Cys) c.424+1300G>T c.634G>T (p.Gly212Cys) c.*711G>T (n.*711G>T) | |
X | g.48905092C>G | CA412895154 | SLC35A2 | c.817G>C (p.Gly273Arg) c.355-200G>C (n.355-200G>C) c.427-200G>C (n.427-200G>C) c.379G>C c.901G>C (p.Gly301Arg) c.856G>C (p.Gly286Arg) c.424+1300G>C c.634G>C (p.Gly212Arg) c.*711G>C (n.*711G>C) | |
X | g.48905092C>T | CA412895152 | SLC35A2 | c.817G>A (p.Gly273Ser) c.355-200G>A (n.355-200G>A) c.427-200G>A (n.427-200G>A) c.379G>A c.901G>A (p.Gly301Ser) c.856G>A (p.Gly286Ser) c.424+1300G>A c.634G>A (p.Gly212Ser) c.*711G>A (n.*711G>A) | |
X | g.48905093C>A | CA412895155 | SLC35A2 | c.816G>T (p.Trp272Cys) c.355-201G>T (n.355-201G>T) c.427-201G>T (n.427-201G>T) c.378G>T c.900G>T (p.Trp300Cys) c.855G>T (p.Trp285Cys) c.424+1299G>T c.633G>T (p.Trp211Cys) c.*710G>T (n.*710G>T) | |
X | g.48905093C>G | CA412895156 | SLC35A2 | c.816G>C (p.Trp272Cys) c.355-201G>C (n.355-201G>C) c.427-201G>C (n.427-201G>C) c.378G>C c.900G>C (p.Trp300Cys) c.855G>C (p.Trp285Cys) c.424+1299G>C c.633G>C (p.Trp211Cys) c.*710G>C (n.*710G>C) | |
X | g.48905093C>T | CA412895157 | SLC35A2 | c.816G>A (p.Trp272Ter) c.355-201G>A (n.355-201G>A) c.427-201G>A (n.427-201G>A) c.378G>A c.900G>A (p.Trp300Ter) c.855G>A (p.Trp285Ter) c.424+1299G>A c.633G>A (p.Trp211Ter) c.*710G>A (n.*710G>A) | |
X | g.48905094C>A | CA10406094 | SLC35A2 | c.815G>T (p.Trp272Leu) c.355-202G>T (n.355-202G>T) c.427-202G>T (n.427-202G>T) c.377G>T c.899G>T (p.Trp300Leu) c.854G>T (p.Trp285Leu) c.424+1298G>T c.632G>T (p.Trp211Leu) c.*709G>T (n.*709G>T) | dbSNP ExAC gnomAD v2 COSMIC COSMIC |
X | g.48905094C= | CA2428428870 | SLC35A2 | c.815G= (p.Trp272=) c.355-202G= (n.355-202G=) c.427-202G= (n.427-202G=) c.377G= c.899G= (p.Trp300=) c.854G= (p.Trp285=) c.424+1298G= c.632G= (p.Trp211=) c.*709G= (n.*709G=) | |
X | g.48905094C>G | CA412895158 | SLC35A2 | c.815G>C (p.Trp272Ser) c.355-202G>C (n.355-202G>C) c.427-202G>C (n.427-202G>C) c.377G>C c.899G>C (p.Trp300Ser) c.854G>C (p.Trp285Ser) c.424+1298G>C c.632G>C (p.Trp211Ser) c.*709G>C (n.*709G>C) | |
X | g.48905094C>T | CA412895159 | SLC35A2 | c.815G>A (p.Trp272Ter) c.355-202G>A (n.355-202G>A) c.427-202G>A (n.427-202G>A) c.377G>A c.899G>A (p.Trp300Ter) c.854G>A (p.Trp285Ter) c.424+1298G>A c.632G>A (p.Trp211Ter) c.*709G>A (n.*709G>A) | |
X | g.48905095A>C | CA412895160 | SLC35A2 | c.814T>G (p.Trp272Gly) c.355-203T>G (n.355-203T>G) c.427-203T>G (n.427-203T>G) c.376T>G c.898T>G (p.Trp300Gly) c.853T>G (p.Trp285Gly) c.424+1297T>G c.631T>G (p.Trp211Gly) c.*708T>G (n.*708T>G) | |
X | g.48905095A>G | CA412895161 | SLC35A2 | c.814T>C (p.Trp272Arg) c.355-203T>C (n.355-203T>C) c.427-203T>C (n.427-203T>C) c.376T>C c.898T>C (p.Trp300Arg) c.853T>C (p.Trp285Arg) c.424+1297T>C c.631T>C (p.Trp211Arg) c.*708T>C (n.*708T>C) | |
X | g.48905095A>T | CA412895162 | SLC35A2 | c.814T>A (p.Trp272Arg) c.355-203T>A (n.355-203T>A) c.427-203T>A (n.427-203T>A) c.376T>A c.898T>A (p.Trp300Arg) c.853T>A (p.Trp285Arg) c.424+1297T>A c.631T>A (p.Trp211Arg) c.*708T>A (n.*708T>A) | |
X | g.48905096G>A | CA516360006 | SLC35A2 | c.813C>T (p.Val271=) c.355-204C>T (n.355-204C>T) c.427-204C>T (n.427-204C>T) c.375C>T c.897C>T (p.Val299=) c.852C>T (p.Val284=) c.424+1296C>T c.630C>T (p.Val210=) c.*707C>T (n.*707C>T) | gnomAD v4 |
X | g.48905096G>C | CA516360007 | SLC35A2 | c.813C>G (p.Val271=) c.355-204C>G (n.355-204C>G) c.427-204C>G (n.427-204C>G) c.375C>G c.897C>G (p.Val299=) c.852C>G (p.Val284=) c.424+1296C>G c.630C>G (p.Val210=) c.*707C>G (n.*707C>G) | |
X | g.48905096G>T | CA516360008 | SLC35A2 | c.813C>A (p.Val271=) c.355-204C>A (n.355-204C>A) c.427-204C>A (n.427-204C>A) c.375C>A c.897C>A (p.Val299=) c.852C>A (p.Val284=) c.424+1296C>A c.630C>A (p.Val210=) c.*707C>A (n.*707C>A) | |
X | g.48905097A>C | CA412895163 | SLC35A2 | c.812T>G (p.Val271Gly) c.355-205T>G (n.355-205T>G) c.427-205T>G (n.427-205T>G) c.374T>G c.896T>G (p.Val299Gly) c.851T>G (p.Val284Gly) c.424+1295T>G c.629T>G (p.Val210Gly) c.*706T>G (n.*706T>G) | |
X | g.48905097A>G | CA412895164 | SLC35A2 | c.812T>C (p.Val271Ala) c.355-205T>C (n.355-205T>C) c.427-205T>C (n.427-205T>C) c.374T>C c.896T>C (p.Val299Ala) c.851T>C (p.Val284Ala) c.424+1295T>C c.629T>C (p.Val210Ala) c.*706T>C (n.*706T>C) | |
X | g.48905097A>T | CA412895165 | SLC35A2 | c.812T>A (p.Val271Asp) c.355-205T>A (n.355-205T>A) c.427-205T>A (n.427-205T>A) c.374T>A c.896T>A (p.Val299Asp) c.851T>A (p.Val284Asp) c.424+1295T>A c.629T>A (p.Val210Asp) c.*706T>A (n.*706T>A) | |
X | g.48905098C>A | CA412895168 | SLC35A2 | c.811G>T (p.Val271Phe) c.355-206G>T (n.355-206G>T) c.427-206G>T (n.427-206G>T) c.373G>T c.895G>T (p.Val299Phe) c.850G>T (p.Val284Phe) c.424+1294G>T c.628G>T (p.Val210Phe) c.*705G>T (n.*705G>T) | |
X | g.48905098C>G | CA412895166 | SLC35A2 | c.811G>C (p.Val271Leu) c.355-206G>C (n.355-206G>C) c.427-206G>C (n.427-206G>C) c.373G>C c.895G>C (p.Val299Leu) c.850G>C (p.Val284Leu) c.424+1294G>C c.628G>C (p.Val210Leu) c.*705G>C (n.*705G>C) | gnomAD v4 |
X | g.48905098C>T | CA412895167 | SLC35A2 | c.811G>A (p.Val271Ile) c.355-206G>A (n.355-206G>A) c.427-206G>A (n.427-206G>A) c.373G>A c.895G>A (p.Val299Ile) c.850G>A (p.Val284Ile) c.424+1294G>A c.628G>A (p.Val210Ile) c.*705G>A (n.*705G>A) | |
X | g.48905099A= | CA2428428871 | SLC35A2 | c.810T= (p.Ala270=) c.355-207T= (n.355-207T=) c.427-207T= (n.427-207T=) c.372T= c.894T= (p.Ala298=) c.849T= (p.Ala283=) c.424+1293T= c.627T= (p.Ala209=) c.*704T= (n.*704T=) | |
X | g.48905099A>C | CA516360011 | SLC35A2 | c.810T>G (p.Ala270=) c.355-207T>G (n.355-207T>G) c.427-207T>G (n.427-207T>G) c.372T>G c.894T>G (p.Ala298=) c.849T>G (p.Ala283=) c.424+1293T>G c.627T>G (p.Ala209=) c.*704T>G (n.*704T>G) | |
X | g.48905099A>G | CA10406095 | SLC35A2 | c.810T>C (p.Ala270=) c.355-207T>C (n.355-207T>C) c.427-207T>C (n.427-207T>C) c.372T>C c.894T>C (p.Ala298=) c.849T>C (p.Ala283=) c.424+1293T>C c.627T>C (p.Ala209=) c.*704T>C (n.*704T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48905099A>T | CA516360012 | SLC35A2 | c.810T>A (p.Ala270=) c.355-207T>A (n.355-207T>A) c.427-207T>A (n.427-207T>A) c.372T>A c.894T>A (p.Ala298=) c.849T>A (p.Ala283=) c.424+1293T>A c.627T>A (p.Ala209=) c.*704T>A (n.*704T>A) | |
X | g.48905100G>A | CA412895169 | SLC35A2 | c.809C>T (p.Ala270Val) c.355-208C>T (n.355-208C>T) c.427-208C>T (n.427-208C>T) c.371C>T c.893C>T (p.Ala298Val) c.848C>T (p.Ala283Val) c.424+1292C>T c.626C>T (p.Ala209Val) c.*703C>T (n.*703C>T) | gnomAD v4 COSMIC |
X | g.48905100G>C | CA412895170 | SLC35A2 | c.809C>G (p.Ala270Gly) c.355-208C>G (n.355-208C>G) c.427-208C>G (n.427-208C>G) c.371C>G c.893C>G (p.Ala298Gly) c.848C>G (p.Ala283Gly) c.424+1292C>G c.626C>G (p.Ala209Gly) c.*703C>G (n.*703C>G) | |
X | g.48905100G>T | CA412895171 | SLC35A2 | c.809C>A (p.Ala270Asp) c.355-208C>A (n.355-208C>A) c.427-208C>A (n.427-208C>A) c.371C>A c.893C>A (p.Ala298Asp) c.848C>A (p.Ala283Asp) c.424+1292C>A c.626C>A (p.Ala209Asp) c.*703C>A (n.*703C>A) | |
X | g.48905101C>A | CA412895172 | SLC35A2 | c.808G>T (p.Ala270Ser) c.355-209G>T (n.355-209G>T) c.427-209G>T (n.427-209G>T) c.370G>T c.892G>T (p.Ala298Ser) c.847G>T (p.Ala283Ser) c.424+1291G>T c.625G>T (p.Ala209Ser) c.*702G>T (n.*702G>T) | |
X | g.48905101C= | CA2428428872 | SLC35A2 | c.808G= (p.Ala270=) c.355-209G= (n.355-209G=) c.427-209G= (n.427-209G=) c.370G= c.892G= (p.Ala298=) c.847G= (p.Ala283=) c.424+1291G= c.625G= (p.Ala209=) c.*702G= (n.*702G=) | |
X | g.48905101C>G | CA412895173 | SLC35A2 | c.808G>C (p.Ala270Pro) c.355-209G>C (n.355-209G>C) c.427-209G>C (n.427-209G>C) c.370G>C c.892G>C (p.Ala298Pro) c.847G>C (p.Ala283Pro) c.424+1291G>C c.625G>C (p.Ala209Pro) c.*702G>C (n.*702G>C) | |
X | g.48905101C>T | CA412895174 | SLC35A2 | c.808G>A (p.Ala270Thr) c.355-209G>A (n.355-209G>A) c.427-209G>A (n.427-209G>A) c.370G>A c.892G>A (p.Ala298Thr) c.847G>A (p.Ala283Thr) c.424+1291G>A c.625G>A (p.Ala209Thr) c.*702G>A (n.*702G>A) | dbSNP |
X | g.48905102A>C | CA516360016 | SLC35A2 | c.807T>G (p.Pro269=) c.355-210T>G (n.355-210T>G) c.427-210T>G (n.427-210T>G) c.369T>G c.891T>G (p.Pro297=) c.846T>G (p.Pro282=) c.424+1290T>G c.624T>G (p.Pro208=) c.*701T>G (n.*701T>G) | |
X | g.48905102A>G | CA516360018 | SLC35A2 | c.807T>C (p.Pro269=) c.355-210T>C (n.355-210T>C) c.427-210T>C (n.427-210T>C) c.369T>C c.891T>C (p.Pro297=) c.846T>C (p.Pro282=) c.424+1290T>C c.624T>C (p.Pro208=) c.*701T>C (n.*701T>C) | |
X | g.48905102A>T | CA516360019 | SLC35A2 | c.807T>A (p.Pro269=) c.355-210T>A (n.355-210T>A) c.427-210T>A (n.427-210T>A) c.369T>A c.891T>A (p.Pro297=) c.846T>A (p.Pro282=) c.424+1290T>A c.624T>A (p.Pro208=) c.*701T>A (n.*701T>A) | |
X | g.48905103G>A | CA412895175 | SLC35A2 | c.806C>T (p.Pro269Leu) c.355-211C>T (n.355-211C>T) c.427-211C>T (n.427-211C>T) c.368C>T c.890C>T (p.Pro297Leu) c.845C>T (p.Pro282Leu) c.424+1289C>T c.623C>T (p.Pro208Leu) c.*700C>T (n.*700C>T) | |
X | g.48905103G>C | CA412895176 | SLC35A2 | c.806C>G (p.Pro269Arg) c.355-211C>G (n.355-211C>G) c.427-211C>G (n.427-211C>G) c.368C>G c.890C>G (p.Pro297Arg) c.845C>G (p.Pro282Arg) c.424+1289C>G c.623C>G (p.Pro208Arg) c.*700C>G (n.*700C>G) | |
X | g.48905103G>T | CA412895177 | SLC35A2 | c.806C>A (p.Pro269His) c.355-211C>A (n.355-211C>A) c.427-211C>A (n.427-211C>A) c.368C>A c.890C>A (p.Pro297His) c.845C>A (p.Pro282His) c.424+1289C>A c.623C>A (p.Pro208His) c.*700C>A (n.*700C>A) | |
X | g.48905104G>A | CA412895178 | SLC35A2 | c.805C>T (p.Pro269Ser) c.355-212C>T (n.355-212C>T) c.427-212C>T (n.427-212C>T) c.367C>T c.889C>T (p.Pro297Ser) c.844C>T (p.Pro282Ser) c.424+1288C>T c.622C>T (p.Pro208Ser) c.*699C>T (n.*699C>T) | |
X | g.48905104G>C | CA412895179 | SLC35A2 | c.805C>G (p.Pro269Ala) c.355-212C>G (n.355-212C>G) c.427-212C>G (n.427-212C>G) c.367C>G c.889C>G (p.Pro297Ala) c.844C>G (p.Pro282Ala) c.424+1288C>G c.622C>G (p.Pro208Ala) c.*699C>G (n.*699C>G) | |
X | g.48905104G>T | CA412895180 | SLC35A2 | c.805C>A (p.Pro269Thr) c.355-212C>A (n.355-212C>A) c.427-212C>A (n.427-212C>A) c.367C>A c.889C>A (p.Pro297Thr) c.844C>A (p.Pro282Thr) c.424+1288C>A c.622C>A (p.Pro208Thr) c.*699C>A (n.*699C>A) | |
X | g.48905105T>A | CA516360025 | SLC35A2 | c.804A>T (p.Thr268=) c.355-213A>T (n.355-213A>T) c.427-213A>T (n.427-213A>T) c.366A>T c.888A>T (p.Thr296=) c.843A>T (p.Thr281=) c.424+1287A>T c.621A>T (p.Thr207=) c.*698A>T (n.*698A>T) | |
X | g.48905105T>C | CA516360023 | SLC35A2 | c.804A>G (p.Thr268=) c.355-213A>G (n.355-213A>G) c.427-213A>G (n.427-213A>G) c.366A>G c.888A>G (p.Thr296=) c.843A>G (p.Thr281=) c.424+1287A>G c.621A>G (p.Thr207=) c.*698A>G (n.*698A>G) | |
X | g.48905105T>G | CA516360022 | SLC35A2 | c.804A>C (p.Thr268=) c.355-213A>C (n.355-213A>C) c.427-213A>C (n.427-213A>C) c.366A>C c.888A>C (p.Thr296=) c.843A>C (p.Thr281=) c.424+1287A>C c.621A>C (p.Thr207=) c.*698A>C (n.*698A>C) | |
X | g.48905106G>A | CA412895182 | SLC35A2 | c.803C>T (p.Thr268Ile) c.355-214C>T (n.355-214C>T) c.427-214C>T (n.427-214C>T) c.365C>T c.887C>T (p.Thr296Ile) c.842C>T (p.Thr281Ile) c.424+1286C>T c.620C>T (p.Thr207Ile) c.*697C>T (n.*697C>T) | ClinVar dbSNP |
X | g.48905106G>C | CA412895183 | SLC35A2 | c.803C>G (p.Thr268Arg) c.355-214C>G (n.355-214C>G) c.427-214C>G (n.427-214C>G) c.365C>G c.887C>G (p.Thr296Arg) c.842C>G (p.Thr281Arg) c.424+1286C>G c.620C>G (p.Thr207Arg) c.*697C>G (n.*697C>G) | |
X | g.48905106G>T | CA412895181 | SLC35A2 | c.803C>A (p.Thr268Lys) c.355-214C>A (n.355-214C>A) c.427-214C>A (n.427-214C>A) c.365C>A c.887C>A (p.Thr296Lys) c.842C>A (p.Thr281Lys) c.424+1286C>A c.620C>A (p.Thr207Lys) c.*697C>A (n.*697C>A) | |
X | g.48905107T>A | CA412895186 | SLC35A2 | c.802A>T (p.Thr268Ser) c.355-215A>T (n.355-215A>T) c.427-215A>T (n.427-215A>T) c.364A>T c.886A>T (p.Thr296Ser) c.841A>T (p.Thr281Ser) c.424+1285A>T c.619A>T (p.Thr207Ser) c.*696A>T (n.*696A>T) | |
X | g.48905107T>C | CA412895184 | SLC35A2 | c.802A>G (p.Thr268Ala) c.355-215A>G (n.355-215A>G) c.427-215A>G (n.427-215A>G) c.364A>G c.886A>G (p.Thr296Ala) c.841A>G (p.Thr281Ala) c.424+1285A>G c.619A>G (p.Thr207Ala) c.*696A>G (n.*696A>G) | |
X | g.48905107T>G | CA412895185 | SLC35A2 | c.802A>C (p.Thr268Pro) c.355-215A>C (n.355-215A>C) c.427-215A>C (n.427-215A>C) c.364A>C c.886A>C (p.Thr296Pro) c.841A>C (p.Thr281Pro) c.424+1285A>C c.619A>C (p.Thr207Pro) c.*696A>C (n.*696A>C) | |
X | g.48905108G>A | CA10406096 | SLC35A2 | c.801C>T (p.Tyr267=) c.355-216C>T (n.355-216C>T) c.427-216C>T (n.427-216C>T) c.363C>T c.885C>T (p.Tyr295=) c.840C>T (p.Tyr280=) c.424+1284C>T c.618C>T (p.Tyr206=) c.*695C>T (n.*695C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48905108G>C | CA412895187 | SLC35A2 | c.801C>G (p.Tyr267Ter) c.355-216C>G (n.355-216C>G) c.427-216C>G (n.427-216C>G) c.363C>G c.885C>G (p.Tyr295Ter) c.840C>G (p.Tyr280Ter) c.424+1284C>G c.618C>G (p.Tyr206Ter) c.*695C>G (n.*695C>G) | |
X | g.48905108G= | CA2428428873 | SLC35A2 | c.801C= (p.Tyr267=) c.355-216C= (n.355-216C=) c.427-216C= (n.427-216C=) c.363C= c.885C= (p.Tyr295=) c.840C= (p.Tyr280=) c.424+1284C= c.618C= (p.Tyr206=) c.*695C= (n.*695C=) | |
X | g.48905108G>T | CA412895188 | SLC35A2 | c.801C>A (p.Tyr267Ter) c.355-216C>A (n.355-216C>A) c.427-216C>A (n.427-216C>A) c.363C>A c.885C>A (p.Tyr295Ter) c.840C>A (p.Tyr280Ter) c.424+1284C>A c.618C>A (p.Tyr206Ter) c.*695C>A (n.*695C>A) | |
X | g.48905109T>A | CA412895189 | SLC35A2 | c.800A>T (p.Tyr267Phe) c.355-217A>T (n.355-217A>T) c.427-217A>T (n.427-217A>T) c.362A>T c.884A>T (p.Tyr295Phe) c.839A>T (p.Tyr280Phe) c.424+1283A>T c.617A>T (p.Tyr206Phe) c.*694A>T (n.*694A>T) | |
X | g.48905109T>C | CA357924 | SLC35A2 | c.800A>G (p.Tyr267Cys) c.355-217A>G (n.355-217A>G) c.427-217A>G (n.427-217A>G) c.362A>G c.884A>G (p.Tyr295Cys) c.839A>G (p.Tyr280Cys) c.424+1283A>G c.617A>G (p.Tyr206Cys) c.*694A>G (n.*694A>G) | ClinVar dbSNP |
X | g.48905109T>G | CA412895190 | SLC35A2 | c.800A>C (p.Tyr267Ser) c.355-217A>C (n.355-217A>C) c.427-217A>C (n.427-217A>C) c.362A>C c.884A>C (p.Tyr295Ser) c.839A>C (p.Tyr280Ser) c.424+1283A>C c.617A>C (p.Tyr206Ser) c.*694A>C (n.*694A>C) | |
X | g.48905109T= | CA2428428874 | SLC35A2 | c.800A= (p.Tyr267=) c.355-217A= (n.355-217A=) c.427-217A= (n.427-217A=) c.362A= c.884A= (p.Tyr295=) c.839A= (p.Tyr280=) c.424+1283A= c.617A= (p.Tyr206=) c.*694A= (n.*694A=) | |
X | g.48905110A>C | CA412895191 | SLC35A2 | c.799T>G (p.Tyr267Asp) c.355-218T>G (n.355-218T>G) c.427-218T>G (n.427-218T>G) c.361T>G c.883T>G (p.Tyr295Asp) c.838T>G (p.Tyr280Asp) c.424+1282T>G c.616T>G (p.Tyr206Asp) c.*693T>G (n.*693T>G) | |
X | g.48905110A>G | CA412895192 | SLC35A2 | c.799T>C (p.Tyr267His) c.355-218T>C (n.355-218T>C) c.427-218T>C (n.427-218T>C) c.361T>C c.883T>C (p.Tyr295His) c.838T>C (p.Tyr280His) c.424+1282T>C c.616T>C (p.Tyr206His) c.*693T>C (n.*693T>C) | |
X | g.48905110A>T | CA412895193 | SLC35A2 | c.799T>A (p.Tyr267Asn) c.355-218T>A (n.355-218T>A) c.427-218T>A (n.427-218T>A) c.361T>A c.883T>A (p.Tyr295Asn) c.838T>A (p.Tyr280Asn) c.424+1282T>A c.616T>A (p.Tyr206Asn) c.*693T>A (n.*693T>A) | |
X | g.48905111C>A | CA516360032 | SLC35A2 | c.798G>T (p.Gly266=) c.355-219G>T (n.355-219G>T) c.427-219G>T (n.427-219G>T) c.360G>T c.882G>T (p.Gly294=) c.837G>T (p.Gly279=) c.424+1281G>T c.615G>T (p.Gly205=) c.*692G>T (n.*692G>T) | |
X | g.48905111C>G | CA516360036 | SLC35A2 | c.798G>C (p.Gly266=) c.355-219G>C (n.355-219G>C) c.427-219G>C (n.427-219G>C) c.360G>C c.882G>C (p.Gly294=) c.837G>C (p.Gly279=) c.424+1281G>C c.615G>C (p.Gly205=) c.*692G>C (n.*692G>C) | |
X | g.48905111C>T | CA516360034 | SLC35A2 | c.798G>A (p.Gly266=) c.355-219G>A (n.355-219G>A) c.427-219G>A (n.427-219G>A) c.360G>A c.882G>A (p.Gly294=) c.837G>A (p.Gly279=) c.424+1281G>A c.615G>A (p.Gly205=) c.*692G>A (n.*692G>A) | gnomAD v4 |
X | g.48905112C>A | CA412895196 | SLC35A2 | c.797G>T (p.Gly266Val) c.355-220G>T (n.355-220G>T) c.427-220G>T (n.427-220G>T) c.359G>T c.881G>T (p.Gly294Val) c.836G>T (p.Gly279Val) c.424+1280G>T c.614G>T (p.Gly205Val) c.*691G>T (n.*691G>T) | |
X | g.48905112C>G | CA412895195 | SLC35A2 | c.797G>C (p.Gly266Ala) c.355-220G>C (n.355-220G>C) c.427-220G>C (n.427-220G>C) c.359G>C c.881G>C (p.Gly294Ala) c.836G>C (p.Gly279Ala) c.424+1280G>C c.614G>C (p.Gly205Ala) c.*691G>C (n.*691G>C) | |
X | g.48905112C>T | CA412895194 | SLC35A2 | c.797G>A (p.Gly266Glu) c.355-220G>A (n.355-220G>A) c.427-220G>A (n.427-220G>A) c.359G>A c.881G>A (p.Gly294Glu) c.836G>A (p.Gly279Glu) c.424+1280G>A c.614G>A (p.Gly205Glu) c.*691G>A (n.*691G>A) | |
X | g.48905113C>A | CA412895197 | SLC35A2 | c.796G>T (p.Gly266Trp) c.355-221G>T (n.355-221G>T) c.427-221G>T (n.427-221G>T) c.358G>T c.880G>T (p.Gly294Trp) c.835G>T (p.Gly279Trp) c.424+1279G>T c.613G>T (p.Gly205Trp) c.*690G>T (n.*690G>T) | gnomAD v4 |
X | g.48905113C>G | CA412895198 | SLC35A2 | c.796G>C (p.Gly266Arg) c.355-221G>C (n.355-221G>C) c.427-221G>C (n.427-221G>C) c.358G>C c.880G>C (p.Gly294Arg) c.835G>C (p.Gly279Arg) c.424+1279G>C c.613G>C (p.Gly205Arg) c.*690G>C (n.*690G>C) | |
X | g.48905113C>T | CA412895199 | SLC35A2 | c.796G>A (p.Gly266Arg) c.355-221G>A (n.355-221G>A) c.427-221G>A (n.427-221G>A) c.358G>A c.880G>A (p.Gly294Arg) c.835G>A (p.Gly279Arg) c.424+1279G>A c.613G>A (p.Gly205Arg) c.*690G>A (n.*690G>A) | |
X | g.48905113_48905114delinsCA | CA2428428875 | SLC35A2 | c.795_796delinsTG (p.Phe265=) c.355-222_355-221delinsTG (n.355-222_355-221delinsTG) c.427-222_427-221delinsTG (n.427-222_427-221delinsTG) c.357_358delinsTG c.879_880delinsTG (p.Phe293=) c.834_835delinsTG (p.Phe278=) c.424+1278_424+1279delinsTG c.612_613delinsTG (p.Phe204=) c.*689_*690delinsTG (n.*689_*690delinsTG) | |
X | g.48905114A>C | CA412895200 | SLC35A2 | c.795T>G (p.Phe265Leu) c.355-222T>G (n.355-222T>G) c.427-222T>G (n.427-222T>G) c.357T>G c.879T>G (p.Phe293Leu) c.834T>G (p.Phe278Leu) c.424+1278T>G c.612T>G (p.Phe204Leu) c.*689T>G (n.*689T>G) | |
X | g.48905114A>G | CA516360042 | SLC35A2 | c.795T>C (p.Phe265=) c.355-222T>C (n.355-222T>C) c.427-222T>C (n.427-222T>C) c.357T>C c.879T>C (p.Phe293=) c.834T>C (p.Phe278=) c.424+1278T>C c.612T>C (p.Phe204=) c.*689T>C (n.*689T>C) | |
X | g.48905114A>T | CA412895201 | SLC35A2 | c.795T>A (p.Phe265Leu) c.355-222T>A (n.355-222T>A) c.427-222T>A (n.427-222T>A) c.357T>A c.879T>A (p.Phe293Leu) c.834T>A (p.Phe278Leu) c.424+1278T>A c.612T>A (p.Phe204Leu) c.*689T>A (n.*689T>A) | |
X | g.48905119dup | CA2580101089 | SLC35A2 | c.795dup (p.Gly266TrpfsTer28) c.355-222dup (n.355-222dup) c.427-222dup (n.427-222dup) c.357dup c.879dup (p.Gly294TrpfsTer28) c.834dup (p.Gly279TrpfsTer28) c.424+1278dup c.612dup (p.Gly205TrpfsTer28) c.*689dup (n.*689dup) | ClinVar |
X | g.48905119del | CA658799742 | SLC35A2 | c.795del (p.Phe265LeufsTer?) c.355-222del (n.355-222del) c.427-222del (n.427-222del) c.357del c.879del (p.Phe293LeufsTer?) c.834del (p.Phe278LeufsTer?) c.424+1278del c.612del (p.Phe204LeufsTer?) c.*689del (n.*689del) | ClinVar dbSNP |
X | g.48905115A>C | CA412895202 | SLC35A2 | c.794T>G (p.Phe265Cys) c.355-223T>G (n.355-223T>G) c.427-223T>G (n.427-223T>G) c.356T>G c.878T>G (p.Phe293Cys) c.833T>G (p.Phe278Cys) c.424+1277T>G c.611T>G (p.Phe204Cys) c.*688T>G (n.*688T>G) | |
X | g.48905115A>G | CA412895203 | SLC35A2 | c.794T>C (p.Phe265Ser) c.355-223T>C (n.355-223T>C) c.427-223T>C (n.427-223T>C) c.356T>C c.878T>C (p.Phe293Ser) c.833T>C (p.Phe278Ser) c.424+1277T>C c.611T>C (p.Phe204Ser) c.*688T>C (n.*688T>C) | |
X | g.48905115A>T | CA412895204 | SLC35A2 | c.794T>A (p.Phe265Tyr) c.355-223T>A (n.355-223T>A) c.427-223T>A (n.427-223T>A) c.356T>A c.878T>A (p.Phe293Tyr) c.833T>A (p.Phe278Tyr) c.424+1277T>A c.611T>A (p.Phe204Tyr) c.*688T>A (n.*688T>A) | |
X | g.48905116A>C | CA412895205 | SLC35A2 | c.793T>G (p.Phe265Val) c.355-224T>G (n.355-224T>G) c.427-224T>G (n.427-224T>G) c.355T>G c.877T>G (p.Phe293Val) c.832T>G (p.Phe278Val) c.424+1276T>G c.610T>G (p.Phe204Val) c.*687T>G (n.*687T>G) | |
X | g.48905116A>G | CA412895206 | SLC35A2 | c.793T>C (p.Phe265Leu) c.355-224T>C (n.355-224T>C) c.427-224T>C (n.427-224T>C) c.355T>C c.877T>C (p.Phe293Leu) c.832T>C (p.Phe278Leu) c.424+1276T>C c.610T>C (p.Phe204Leu) c.*687T>C (n.*687T>C) | |
X | g.48905116A>T | CA412895207 | SLC35A2 | c.793T>A (p.Phe265Ile) c.355-224T>A (n.355-224T>A) c.427-224T>A (n.427-224T>A) c.355T>A c.877T>A (p.Phe293Ile) c.832T>A (p.Phe278Ile) c.424+1276T>A c.610T>A (p.Phe204Ile) c.*687T>A (n.*687T>A) | |
X | g.48905117A>C | CA412895208 | SLC35A2 | c.792T>G (p.Phe264Leu) c.355-225T>G (n.355-225T>G) c.427-225T>G (n.427-225T>G) c.354T>G c.876T>G (p.Phe292Leu) c.831T>G (p.Phe277Leu) c.424+1275T>G c.609T>G (p.Phe203Leu) c.*686T>G (n.*686T>G) | |
X | g.48905117A>G | CA516360047 | SLC35A2 | c.792T>C (p.Phe264=) c.355-225T>C (n.355-225T>C) c.427-225T>C (n.427-225T>C) c.354T>C c.876T>C (p.Phe292=) c.831T>C (p.Phe277=) c.424+1275T>C c.609T>C (p.Phe203=) c.*686T>C (n.*686T>C) | |
X | g.48905117A>T | CA412895209 | SLC35A2 | c.792T>A (p.Phe264Leu) c.355-225T>A (n.355-225T>A) c.427-225T>A (n.427-225T>A) c.354T>A c.876T>A (p.Phe292Leu) c.831T>A (p.Phe277Leu) c.424+1275T>A c.609T>A (p.Phe203Leu) c.*686T>A (n.*686T>A) | |
X | g.48905118A>C | CA412895211 | SLC35A2 | c.791T>G (p.Phe264Cys) c.355-226T>G (n.355-226T>G) c.427-226T>G (n.427-226T>G) c.353T>G c.875T>G (p.Phe292Cys) c.830T>G (p.Phe277Cys) c.424+1274T>G c.608T>G (p.Phe203Cys) c.*685T>G (n.*685T>G) | |
X | g.48905118A>G | CA412895212 | SLC35A2 | c.791T>C (p.Phe264Ser) c.355-226T>C (n.355-226T>C) c.427-226T>C (n.427-226T>C) c.353T>C c.875T>C (p.Phe292Ser) c.830T>C (p.Phe277Ser) c.424+1274T>C c.608T>C (p.Phe203Ser) c.*685T>C (n.*685T>C) | |
X | g.48905118A>T | CA412895210 | SLC35A2 | c.791T>A (p.Phe264Tyr) c.355-226T>A (n.355-226T>A) c.427-226T>A (n.427-226T>A) c.353T>A c.875T>A (p.Phe292Tyr) c.830T>A (p.Phe277Tyr) c.424+1274T>A c.608T>A (p.Phe203Tyr) c.*685T>A (n.*685T>A) | |
X | g.48905119A>C | CA412895213 | SLC35A2 | c.790T>G (p.Phe264Val) c.355-227T>G (n.355-227T>G) c.427-227T>G (n.427-227T>G) c.352T>G c.874T>G (p.Phe292Val) c.829T>G (p.Phe277Val) c.424+1273T>G c.607T>G (p.Phe203Val) c.*684T>G (n.*684T>G) | |
X | g.48905119A>G | CA412895214 | SLC35A2 | c.790T>C (p.Phe264Leu) c.355-227T>C (n.355-227T>C) c.427-227T>C (n.427-227T>C) c.352T>C c.874T>C (p.Phe292Leu) c.829T>C (p.Phe277Leu) c.424+1273T>C c.607T>C (p.Phe203Leu) c.*684T>C (n.*684T>C) | |
X | g.48905119A>T | CA412895215 | SLC35A2 | c.790T>A (p.Phe264Ile) c.355-227T>A (n.355-227T>A) c.427-227T>A (n.427-227T>A) c.352T>A c.874T>A (p.Phe292Ile) c.829T>A (p.Phe277Ile) c.424+1273T>A c.607T>A (p.Phe203Ile) c.*684T>A (n.*684T>A) | |
X | g.48905120G>A | CA516360053 | SLC35A2 | c.789C>T (p.Phe263=) c.355-228C>T (n.355-228C>T) c.427-228C>T (n.427-228C>T) c.351C>T c.873C>T (p.Phe291=) c.828C>T (p.Phe276=) c.424+1272C>T c.606C>T (p.Phe202=) c.*683C>T (n.*683C>T) | |
X | g.48905120G>C | CA412895216 | SLC35A2 | c.789C>G (p.Phe263Leu) c.355-228C>G (n.355-228C>G) c.427-228C>G (n.427-228C>G) c.351C>G c.873C>G (p.Phe291Leu) c.828C>G (p.Phe276Leu) c.424+1272C>G c.606C>G (p.Phe202Leu) c.*683C>G (n.*683C>G) | gnomAD v4 |
X | g.48905120G>T | CA412895217 | SLC35A2 | c.789C>A (p.Phe263Leu) c.355-228C>A (n.355-228C>A) c.427-228C>A (n.427-228C>A) c.351C>A c.873C>A (p.Phe291Leu) c.828C>A (p.Phe276Leu) c.424+1272C>A c.606C>A (p.Phe202Leu) c.*683C>A (n.*683C>A) | |
X | g.48905121A>C | CA412895220 | SLC35A2 | c.788T>G (p.Phe263Cys) c.355-229T>G (n.355-229T>G) c.427-229T>G (n.427-229T>G) c.350T>G c.872T>G (p.Phe291Cys) c.827T>G (p.Phe276Cys) c.424+1271T>G c.605T>G (p.Phe202Cys) c.*682T>G (n.*682T>G) | |
X | g.48905121A>G | CA412895219 | SLC35A2 | c.788T>C (p.Phe263Ser) c.355-229T>C (n.355-229T>C) c.427-229T>C (n.427-229T>C) c.350T>C c.872T>C (p.Phe291Ser) c.827T>C (p.Phe276Ser) c.424+1271T>C c.605T>C (p.Phe202Ser) c.*682T>C (n.*682T>C) | |
X | g.48905121A>T | CA412895218 | SLC35A2 | c.788T>A (p.Phe263Tyr) c.355-229T>A (n.355-229T>A) c.427-229T>A (n.427-229T>A) c.350T>A c.872T>A (p.Phe291Tyr) c.827T>A (p.Phe276Tyr) c.424+1271T>A c.605T>A (p.Phe202Tyr) c.*682T>A (n.*682T>A) | |
X | g.48905122A>C | CA412895221 | SLC35A2 | c.787T>G (p.Phe263Val) c.355-230T>G (n.355-230T>G) c.427-230T>G (n.427-230T>G) c.349T>G c.871T>G (p.Phe291Val) c.826T>G (p.Phe276Val) c.424+1270T>G c.604T>G (p.Phe202Val) c.*681T>G (n.*681T>G) | |
X | g.48905122A>G | CA412895222 | SLC35A2 | c.787T>C (p.Phe263Leu) c.355-230T>C (n.355-230T>C) c.427-230T>C (n.427-230T>C) c.349T>C c.871T>C (p.Phe291Leu) c.826T>C (p.Phe276Leu) c.424+1270T>C c.604T>C (p.Phe202Leu) c.*681T>C (n.*681T>C) | |
X | g.48905122A>T | CA412895223 | SLC35A2 | c.787T>A (p.Phe263Ile) c.355-230T>A (n.355-230T>A) c.427-230T>A (n.427-230T>A) c.349T>A c.871T>A (p.Phe291Ile) c.826T>A (p.Phe276Ile) c.424+1270T>A c.604T>A (p.Phe202Ile) c.*681T>A (n.*681T>A) | |
X | g.48905123A= | CA2428428876 | SLC35A2 | c.786T= (p.Gly262=) c.355-231T= (n.355-231T=) c.427-231T= (n.427-231T=) c.348T= c.870T= (p.Gly290=) c.825T= (p.Gly275=) c.424+1269T= c.603T= (p.Gly201=) c.*680T= (n.*680T=) | |
X | g.48905123A>C | CA516360059 | SLC35A2 | c.786T>G (p.Gly262=) c.355-231T>G (n.355-231T>G) c.427-231T>G (n.427-231T>G) c.348T>G c.870T>G (p.Gly290=) c.825T>G (p.Gly275=) c.424+1269T>G c.603T>G (p.Gly201=) c.*680T>G (n.*680T>G) | |
X | g.48905123A>G | CA516360060 | SLC35A2 | c.786T>C (p.Gly262=) c.355-231T>C (n.355-231T>C) c.427-231T>C (n.427-231T>C) c.348T>C c.870T>C (p.Gly290=) c.825T>C (p.Gly275=) c.424+1269T>C c.603T>C (p.Gly201=) c.*680T>C (n.*680T>C) | dbSNP gnomAD v2 |
X | g.48905123A>T | CA516360062 | SLC35A2 | c.786T>A (p.Gly262=) c.355-231T>A (n.355-231T>A) c.427-231T>A (n.427-231T>A) c.348T>A c.870T>A (p.Gly290=) c.825T>A (p.Gly275=) c.424+1269T>A c.603T>A (p.Gly201=) c.*680T>A (n.*680T>A) | |
X | g.48905124C>A | CA412895224 | SLC35A2 | c.785G>T (p.Gly262Val) c.355-232G>T (n.355-232G>T) c.427-232G>T (n.427-232G>T) c.347G>T c.869G>T (p.Gly290Val) c.824G>T (p.Gly275Val) c.424+1268G>T c.602G>T (p.Gly201Val) c.*679G>T (n.*679G>T) | |
X | g.48905124C>G | CA412895225 | SLC35A2 | c.785G>C (p.Gly262Ala) c.355-232G>C (n.355-232G>C) c.427-232G>C (n.427-232G>C) c.347G>C c.869G>C (p.Gly290Ala) c.824G>C (p.Gly275Ala) c.424+1268G>C c.602G>C (p.Gly201Ala) c.*679G>C (n.*679G>C) | |
X | g.48905124C>T | CA412895226 | SLC35A2 | c.785G>A (p.Gly262Asp) c.355-232G>A (n.355-232G>A) c.427-232G>A (n.427-232G>A) c.347G>A c.869G>A (p.Gly290Asp) c.824G>A (p.Gly275Asp) c.424+1268G>A c.602G>A (p.Gly201Asp) c.*679G>A (n.*679G>A) | |
X | g.48905125C>A | CA412895227 | SLC35A2 | c.784G>T (p.Gly262Cys) c.355-233G>T (n.355-233G>T) c.427-233G>T (n.427-233G>T) c.346G>T c.868G>T (p.Gly290Cys) c.823G>T (p.Gly275Cys) c.424+1267G>T c.601G>T (p.Gly201Cys) c.*678G>T (n.*678G>T) | |
X | g.48905125C>G | CA412895229 | SLC35A2 | c.784G>C (p.Gly262Arg) c.355-233G>C (n.355-233G>C) c.427-233G>C (n.427-233G>C) c.346G>C c.868G>C (p.Gly290Arg) c.823G>C (p.Gly275Arg) c.424+1267G>C c.601G>C (p.Gly201Arg) c.*678G>C (n.*678G>C) | |
X | g.48905125C>T | CA412895228 | SLC35A2 | c.784G>A (p.Gly262Ser) c.355-233G>A (n.355-233G>A) c.427-233G>A (n.427-233G>A) c.346G>A c.868G>A (p.Gly290Ser) c.823G>A (p.Gly275Ser) c.424+1267G>A c.601G>A (p.Gly201Ser) c.*678G>A (n.*678G>A) | COSMIC |
X | g.48905126A>C | CA516360067 | SLC35A2 | c.783T>G (p.Arg261=) c.355-234T>G (n.355-234T>G) c.427-234T>G (n.427-234T>G) c.345T>G c.867T>G (p.Arg289=) c.822T>G (p.Arg274=) c.424+1266T>G c.600T>G (p.Arg200=) c.*677T>G (n.*677T>G) | |
X | g.48905126A>G | CA516360064 | SLC35A2 | c.783T>C (p.Arg261=) c.355-234T>C (n.355-234T>C) c.427-234T>C (n.427-234T>C) c.345T>C c.867T>C (p.Arg289=) c.822T>C (p.Arg274=) c.424+1266T>C c.600T>C (p.Arg200=) c.*677T>C (n.*677T>C) | gnomAD v4 |
X | g.48905126A>T | CA516360066 | SLC35A2 | c.783T>A (p.Arg261=) c.355-234T>A (n.355-234T>A) c.427-234T>A (n.427-234T>A) c.345T>A c.867T>A (p.Arg289=) c.822T>A (p.Arg274=) c.424+1266T>A c.600T>A (p.Arg200=) c.*677T>A (n.*677T>A) | |
X | g.48905127C>A | CA412895230 | SLC35A2 | c.782G>T (p.Arg261Leu) c.355-235G>T (n.355-235G>T) c.427-235G>T (n.427-235G>T) c.344G>T c.866G>T (p.Arg289Leu) c.821G>T (p.Arg274Leu) c.424+1265G>T c.599G>T (p.Arg200Leu) c.*676G>T (n.*676G>T) | |
X | g.48905127C= | CA2428428877 | SLC35A2 | c.782G= (p.Arg261=) c.355-235G= (n.355-235G=) c.427-235G= (n.427-235G=) c.344G= c.866G= (p.Arg289=) c.821G= (p.Arg274=) c.424+1265G= c.599G= (p.Arg200=) c.*676G= (n.*676G=) | |
X | g.48905127C>G | CA412895231 | SLC35A2 | c.782G>C (p.Arg261Pro) c.355-235G>C (n.355-235G>C) c.427-235G>C (n.427-235G>C) c.344G>C c.866G>C (p.Arg289Pro) c.821G>C (p.Arg274Pro) c.424+1265G>C c.599G>C (p.Arg200Pro) c.*676G>C (n.*676G>C) | |
X | g.48905127C>T | CA412895232 | SLC35A2 | c.782G>A (p.Arg261His) c.355-235G>A (n.355-235G>A) c.427-235G>A (n.427-235G>A) c.344G>A c.866G>A (p.Arg289His) c.821G>A (p.Arg274His) c.424+1265G>A c.599G>A (p.Arg200His) c.*676G>A (n.*676G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.48905128G>A | CA412895233 | SLC35A2 | c.781C>T (p.Arg261Cys) c.355-236C>T (n.355-236C>T) c.427-236C>T (n.427-236C>T) c.343C>T c.865C>T (p.Arg289Cys) c.820C>T (p.Arg274Cys) c.424+1264C>T c.598C>T (p.Arg200Cys) c.*675C>T (n.*675C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.48905128G>C | CA412895234 | SLC35A2 | c.781C>G (p.Arg261Gly) c.355-236C>G (n.355-236C>G) c.427-236C>G (n.427-236C>G) c.343C>G c.865C>G (p.Arg289Gly) c.820C>G (p.Arg274Gly) c.424+1264C>G c.598C>G (p.Arg200Gly) c.*675C>G (n.*675C>G) | |
X | g.48905128G= | CA2428428878 | SLC35A2 | c.781C= (p.Arg261=) c.355-236C= (n.355-236C=) c.427-236C= (n.427-236C=) c.343C= c.865C= (p.Arg289=) c.820C= (p.Arg274=) c.424+1264C= c.598C= (p.Arg200=) c.*675C= (n.*675C=) | |
X | g.48905128G>T | CA412895235 | SLC35A2 | c.781C>A (p.Arg261Ser) c.355-236C>A (n.355-236C>A) c.427-236C>A (n.427-236C>A) c.343C>A c.865C>A (p.Arg289Ser) c.820C>A (p.Arg274Ser) c.424+1264C>A c.598C>A (p.Arg200Ser) c.*675C>A (n.*675C>A) | |
X | g.48905130del | CA2499226748 | SLC35A2 | c.781del (p.Arg261ValfsTer?) c.355-236del (n.355-236del) c.427-236del (n.427-236del) c.343del c.865del (p.Arg289ValfsTer?) c.820del (p.Arg274ValfsTer?) c.424+1264del c.598del (p.Arg200ValfsTer?) c.*675del (n.*675del) | ClinVar dbSNP |
X | g.48905129G>A | CA516360072 | SLC35A2 | c.780C>T (p.Thr260=) c.355-237C>T (n.355-237C>T) c.427-237C>T (n.427-237C>T) c.342C>T c.864C>T (p.Thr288=) c.819C>T (p.Thr273=) c.424+1263C>T c.597C>T (p.Thr199=) c.*674C>T (n.*674C>T) | gnomAD v4 |
X | g.48905129G>C | CA516360073 | SLC35A2 | c.780C>G (p.Thr260=) c.355-237C>G (n.355-237C>G) c.427-237C>G (n.427-237C>G) c.342C>G c.864C>G (p.Thr288=) c.819C>G (p.Thr273=) c.424+1263C>G c.597C>G (p.Thr199=) c.*674C>G (n.*674C>G) | |
X | g.48905129G>T | CA516360074 | SLC35A2 | c.780C>A (p.Thr260=) c.355-237C>A (n.355-237C>A) c.427-237C>A (n.427-237C>A) c.342C>A c.864C>A (p.Thr288=) c.819C>A (p.Thr273=) c.424+1263C>A c.597C>A (p.Thr199=) c.*674C>A (n.*674C>A) | |
X | g.48905130G>A | CA412895236 | SLC35A2 | c.779C>T (p.Thr260Ile) c.355-238C>T (n.355-238C>T) c.427-238C>T (n.427-238C>T) c.341C>T c.863C>T (p.Thr288Ile) c.818C>T (p.Thr273Ile) c.424+1262C>T c.596C>T (p.Thr199Ile) c.*673C>T (n.*673C>T) | |
X | g.48905130G>C | CA412895237 | SLC35A2 | c.779C>G (p.Thr260Ser) c.355-238C>G (n.355-238C>G) c.427-238C>G (n.427-238C>G) c.341C>G c.863C>G (p.Thr288Ser) c.818C>G (p.Thr273Ser) c.424+1262C>G c.596C>G (p.Thr199Ser) c.*673C>G (n.*673C>G) | |
X | g.48905130G>T | CA412895238 | SLC35A2 | c.779C>A (p.Thr260Asn) c.355-238C>A (n.355-238C>A) c.427-238C>A (n.427-238C>A) c.341C>A c.863C>A (p.Thr288Asn) c.818C>A (p.Thr273Asn) c.424+1262C>A c.596C>A (p.Thr199Asn) c.*673C>A (n.*673C>A) | |
X | g.48905131T>A | CA412895239 | SLC35A2 | c.778A>T (p.Thr260Ser) c.355-239A>T (n.355-239A>T) c.427-239A>T (n.427-239A>T) c.340A>T c.862A>T (p.Thr288Ser) c.817A>T (p.Thr273Ser) c.424+1261A>T c.595A>T (p.Thr199Ser) c.*672A>T (n.*672A>T) | |
X | g.48905131T>C | CA412895240 | SLC35A2 | c.778A>G (p.Thr260Ala) c.355-239A>G (n.355-239A>G) c.427-239A>G (n.427-239A>G) c.340A>G c.862A>G (p.Thr288Ala) c.817A>G (p.Thr273Ala) c.424+1261A>G c.595A>G (p.Thr199Ala) c.*672A>G (n.*672A>G) | |
X | g.48905131T>G | CA412895241 | SLC35A2 | c.778A>C (p.Thr260Pro) c.355-239A>C (n.355-239A>C) c.427-239A>C (n.427-239A>C) c.340A>C c.862A>C (p.Thr288Pro) c.817A>C (p.Thr273Pro) c.424+1261A>C c.595A>C (p.Thr199Pro) c.*672A>C (n.*672A>C) | |
X | g.48905132G>A | CA516360076 | SLC35A2 | c.777C>T (p.Ala259=) c.355-240C>T (n.355-240C>T) c.427-240C>T (n.427-240C>T) c.339C>T c.861C>T (p.Ala287=) c.816C>T (p.Ala272=) c.424+1260C>T c.594C>T (p.Ala198=) c.*671C>T (n.*671C>T) | |
X | g.48905132G>C | CA516360077 | SLC35A2 | c.777C>G (p.Ala259=) c.355-240C>G (n.355-240C>G) c.427-240C>G (n.427-240C>G) c.339C>G c.861C>G (p.Ala287=) c.816C>G (p.Ala272=) c.424+1260C>G c.594C>G (p.Ala198=) c.*671C>G (n.*671C>G) | |
X | g.48905132G>T | CA516360078 | SLC35A2 | c.777C>A (p.Ala259=) c.355-240C>A (n.355-240C>A) c.427-240C>A (n.427-240C>A) c.339C>A c.861C>A (p.Ala287=) c.816C>A (p.Ala272=) c.424+1260C>A c.594C>A (p.Ala198=) c.*671C>A (n.*671C>A) | |
X | g.48905133G>A | CA412895244 | SLC35A2 | c.776C>T (p.Ala259Val) c.355-241C>T (n.355-241C>T) c.427-241C>T (n.427-241C>T) c.338C>T c.860C>T (p.Ala287Val) c.815C>T (p.Ala272Val) c.424+1259C>T c.593C>T (p.Ala198Val) c.*670C>T (n.*670C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48905133G>C | CA412895243 | SLC35A2 | c.776C>G (p.Ala259Gly) c.355-241C>G (n.355-241C>G) c.427-241C>G (n.427-241C>G) c.338C>G c.860C>G (p.Ala287Gly) c.815C>G (p.Ala272Gly) c.424+1259C>G c.593C>G (p.Ala198Gly) c.*670C>G (n.*670C>G) | |
X | g.48905133G= | CA2428428879 | SLC35A2 | c.776C= (p.Ala259=) c.355-241C= (n.355-241C=) c.427-241C= (n.427-241C=) c.338C= c.860C= (p.Ala287=) c.815C= (p.Ala272=) c.424+1259C= c.593C= (p.Ala198=) c.*670C= (n.*670C=) | |
X | g.48905133G>T | CA412895242 | SLC35A2 | c.776C>A (p.Ala259Asp) c.355-241C>A (n.355-241C>A) c.427-241C>A (n.427-241C>A) c.338C>A c.860C>A (p.Ala287Asp) c.815C>A (p.Ala272Asp) c.424+1259C>A c.593C>A (p.Ala198Asp) c.*670C>A (n.*670C>A) | |
X | g.48905133_48906105delinsGCCACGGCGGTACCCTCAGCCCACCAGAGCCCCACCAGGCCCAGTGCTGTGCCGAAGAGGCCCAGTTGCAGGTTGCGCAGCCACACGGAGCCTGAGCTGCCTTTGAGGATCTTCTCAAAGTAGACACCTGCGAAGCCGGAGGAGAGACAGGAGGCCACGACGGCTGCCAGGCCTGCCCCAGGGTTCTGATCCAGTGGCCGTGGGCCTCCCCCACCGGCTTGCTGTGCCTGGACAATGGCGACGCCAGTGAAGAGGAGCAGCAGGGAGGCCCACTGCAGCCGGGAAAGGCTGCGATTCAGCATGAGCACGGAGAACAGCGCTGTGGTCAGGATCTTCAGCTGGTATGTCACCTGCGAGTGGCACGTGGAAGGCACTGAGGGCTGACCCTGGCCCCCAACAGGTGCACATGGGGGGCAGCACCCACTGTGGGCCCCCAGGCACAATGGAGGGACAGGGTGGGGGGTATGACAGCAAAAACAGCAAAAGGAGCCAGCCACTGGCCATTGGCTGAGCTGCAGCAAAACAGTTCTGAAGTCTCTCCCAGCAAGTGCACAAAAGGATGGCTGTGCCAAGAAGTCCACATCCCAATCCCATTTCCTGGCTGTGTGACTGGGGACAAAGCACTTGCCCTGTCTGAGCCCTGGCATCATCATCTATAAAAGATGGCTGAGGTATGGAAGTATCTTTGTGATGAGGGACTTGATACAAATGAATCAATAGCCACAACAATGTCAGCAAATACTTACATAGTGCTTACAATATATCAGTGTGGTTCTAGGCACTGCACGTGAATTCATTCATTTAATTCTCACAACACCATTCTGAAGTGAGCACCACTGTAAGCCCCAATTTAAAGGTGAGAAAACTAAGGCACAGAGAGGTTAGGTGACGTGCCCCAAAATCACACAGCTGGAAGGTAGCAGAGCTGAGATTTGAACCCAGACAGCCTGGCCCCAGAATCCAGGCTCTTTAA | CA2428428880 | SLC35A2 | c.426+287_776delinsTTAAAGAGCCTGGATTCTGGGGCCAGGCTGTCTGGGTTCAAATCTCAGCTCTGCTACCTTCCAGCTGTGTGATTTTGGGGCACGTCACCTAACCTCTCTGTGCCTTAGTTTTCTCACCTTTAAATTGGGGCTTACAGTGGTGCTCACTTCAGAATGGTGTTGTGAGAATTAAATGAATGAATTCACGTGCAGTGCCTAGAACCACACTGATATATTGTAAGCACTATGTAAGTATTTGCTGACATTGTTGTGGCTATTGATTCATTTGTATCAAGTCCCTCATCACAAAGATACTTCCATACCTCAGCCATCTTTTATAGATGATGATGCCAGGGCTCAGACAGGGCAAGTGCTTTGTCCCCAGTCACACAGCCAGGAAATGGGATTGGGATGTGGACTTCTTGGCACAGCCATCCTTTTGTGCACTTGCTGGGAGAGACTTCAGAACTGTTTTGCTGCAGCTCAGCCAATGGCCAGTGGCTGGCTCCTTTTGCTGTTTTTGCTGTCATACCCCCCACCCTGTCCCTCCATTGTGCCTGGGGGCCCACAGTGGGTGCTGCCCCCCATGTGCACCTGTTGGGGGCCAGGGTCAGCCCTCAGTGCCTTCCACGTGCCACTCGCAGGTGACATACCAGCTGAAGATCCTGACCACAGCGCTGTTCTCCGTGCTCATGCTGAATCGCAGCCTTTCCCGGCTGCAGTGGGCCTCCCTGCTGCTCCTCTTCACTGGCGTCGCCATTGTCCAGGCACAGCAAGCCGGTGGGGGAGGCCCACGGCCACTGGATCAGAACCCTGGGGCAGGCCTGGCAGCCGTCGTGGCCTCCTGTCTCTCCTCCGGCTTCGCAGGTGTCTACTTTGAGAAGATCCTCAAAGGCAGCTCAGGCTCCGTGTGGCTGCGCAACCTGCAACTGGGCCTCTTCGGCACAGCACTGGGCCTGGTGGGGCTCTGGTGGGCTGAGGGTACCGCCGTGGC c.354+287_355-241delinsTTAAAGAGCCTGGATTCTGGGGCCAGGCTGTCTGGGTTCAAATCTCAGCTCTGCTACCTTCCAGCTGTGTGATTTTGGGGCACGTCACCTAACCTCTCTGTGCCTTAGTTTTCTCACCTTTAAATTGGGGCTTACAGTGGTGCTCACTTCAGAATGGTGTTGTGAGAATTAAATGAATGAATTCACGTGCAGTGCCTAGAACCACACTGATATATTGTAAGCACTATGTAAGTATTTGCTGACATTGTTGTGGCTATTGATTCATTTGTATCAAGTCCCTCATCACAAAGATACTTCCATACCTCAGCCATCTTTTATAGATGATGATGCCAGGGCTCAGACAGGGCAAGTGCTTTGTCCCCAGTCACACAGCCAGGAAATGGGATTGGGATGTGGACTTCTTGGCACAGCCATCCTTTTGTGCACTTGCTGGGAGAGACTTCAGAACTGTTTTGCTGCAGCTCAGCCAATGGCCAGTGGCTGGCTCCTTTTGCTGTTTTTGCTGTCATACCCCCCACCCTGTCCCTCCATTGTGCCTGGGGGCCCACAGTGGGTGCTGCCCCCCATGTGCACCTGTTGGGGGCCAGGGTCAGCCCTCAGTGCCTTCCACGTGCCACTCGCAGGTGACATACCAGCTGAAGATCCTGACCACAGCGCTGTTCTCCGTGCTCATGCTGAATCGCAGCCTTTCCCGGCTGCAGTGGGCCTCCCTGCTGCTCCTCTTCACTGGCGTCGCCATTGTCCAGGCACAGCAAGCCGGTGGGGGAGGCCCACGGCCACTGGATCAGAACCCTGGGGCAGGCCTGGCAGCCGTCGTGGCCTCCTGTCTCTCCTCCGGCTTCGCAGGTGTCTACTTTGAGAAGATCCTCAAAGGCAGCTCAGGCTCCGTGTGGCTGCGCAACCTGCAACTGGGCCTCTTCGGCACAGCACTGGGCCTGGTGGGGCTCTGGTGGGCTGAGGGTACCGCCGTGGC (n.354+287_355-241delinsTTAAAGAGCCTGGATTCTGGGGCCAGGCTGTCTGGGTTCAAATCTCAGCTCTGCTACCTTCCAGCTGTGTGATTTTGGGGCACGTCACCTAACCTCTCTGTGCCTTAGTTTTCTCACCTTTAAATTGGGGCTTACAGTGGTGCTCACTTCAGAATGGTGTTGTGAGAATTAAATGAATGAATTCACGTGCAGTGCCTAGAACCACACTGATATATTGTAAGCACTATGTAAGTATTTGCTGACATTGTTGTGGCTATTGATTCATTTGTATCAAGTCCCTCATCACAAAGATACTTCCATACCTCAGCCATCTTTTATAGATGATGATGCCAGGGCTCAGACAGGGCAAGTGCTTTGTCCCCAGTCACACAGCCAGGAAATGGGATTGGGATGTGGACTTCTTGGCACAGCCATCCTTTTGTGCACTTGCTGGGAGAGACTTCAGAACTGTTTTGCTGCAGCTCAGCCAATGGCCAGTGGCTGGCTCCTTTTGCTGTTTTTGCTGTCATACCCCCCACCCTGTCCCTCCATTGTGCCTGGGGGCCCACAGTGGGTGCTGCCCCCCATGTGCACCTGTTGGGGGCCAGGGTCAGCCCTCAGTGCCTTCCACGTGCCACTCGCAGGTGACATACCAGCTGAAGATCCTGACCACAGCGCTGTTCTCCGTGCTCATGCTGAATCGCAGCCTTTCCCGGCTGCAGTGGGCCTCCCTGCTGCTCCTCTTCACTGGCGTCGCCATTGTCCAGGCACAGCAAGCCGGTGGGGGAGGCCCACGGCCACTGGATCAGAACCCTGGGGCAGGCCTGGCAGCCGTCGTGGCCTCCTGTCTCTCCTCCGGCTTCGCAGGTGTCTACTTTGAGAAGATCCTCAAAGGCAGCTCAGGCTCCGTGTGGCTGCGCAACCTGCAACTGGGCCTCTTCGGCACAGCACTGGGCCTGGTGGGGCTCTGGTGGGCTGAGGGTACCGCCGTGGC) c.426+287_427-241delinsTTAAAGAGCCTGGATTCTGGGGCCAGGCTGTCTGGGTTCAAATCTCAGCTCTGCTACCTTCCAGCTGTGTGATTTTGGGGCACGTCACCTAACCTCTCTGTGCCTTAGTTTTCTCACCTTTAAATTGGGGCTTACAGTGGTGCTCACTTCAGAATGGTGTTGTGAGAATTAAATGAATGAATTCACGTGCAGTGCCTAGAACCACACTGATATATTGTAAGCACTATGTAAGTATTTGCTGACATTGTTGTGGCTATTGATTCATTTGTATCAAGTCCCTCATCACAAAGATACTTCCATACCTCAGCCATCTTTTATAGATGATGATGCCAGGGCTCAGACAGGGCAAGTGCTTTGTCCCCAGTCACACAGCCAGGAAATGGGATTGGGATGTGGACTTCTTGGCACAGCCATCCTTTTGTGCACTTGCTGGGAGAGACTTCAGAACTGTTTTGCTGCAGCTCAGCCAATGGCCAGTGGCTGGCTCCTTTTGCTGTTTTTGCTGTCATACCCCCCACCCTGTCCCTCCATTGTGCCTGGGGGCCCACAGTGGGTGCTGCCCCCCATGTGCACCTGTTGGGGGCCAGGGTCAGCCCTCAGTGCCTTCCACGTGCCACTCGCAGGTGACATACCAGCTGAAGATCCTGACCACAGCGCTGTTCTCCGTGCTCATGCTGAATCGCAGCCTTTCCCGGCTGCAGTGGGCCTCCCTGCTGCTCCTCTTCACTGGCGTCGCCATTGTCCAGGCACAGCAAGCCGGTGGGGGAGGCCCACGGCCACTGGATCAGAACCCTGGGGCAGGCCTGGCAGCCGTCGTGGCCTCCTGTCTCTCCTCCGGCTTCGCAGGTGTCTACTTTGAGAAGATCCTCAAAGGCAGCTCAGGCTCCGTGTGGCTGCGCAACCTGCAACTGGGCCTCTTCGGCACAGCACTGGGCCTGGTGGGGCTCTGGTGGGCTGAGGGTACCGCCGTGGC (n.426+287_427-241delinsTTAAAGAGCCTGGATTCTGGGGCCAGGCTGTCTGGGTTCAAATCTCAGCTCTGCTACCTTCCAGCTGTGTGATTTTGGGGCACGTCACCTAACCTCTCTGTGCCTTAGTTTTCTCACCTTTAAATTGGGGCTTACAGTGGTGCTCACTTCAGAATGGTGTTGTGAGAATTAAATGAATGAATTCACGTGCAGTGCCTAGAACCACACTGATATATTGTAAGCACTATGTAAGTATTTGCTGACATTGTTGTGGCTATTGATTCATTTGTATCAAGTCCCTCATCACAAAGATACTTCCATACCTCAGCCATCTTTTATAGATGATGATGCCAGGGCTCAGACAGGGCAAGTGCTTTGTCCCCAGTCACACAGCCAGGAAATGGGATTGGGATGTGGACTTCTTGGCACAGCCATCCTTTTGTGCACTTGCTGGGAGAGACTTCAGAACTGTTTTGCTGCAGCTCAGCCAATGGCCAGTGGCTGGCTCCTTTTGCTGTTTTTGCTGTCATACCCCCCACCCTGTCCCTCCATTGTGCCTGGGGGCCCACAGTGGGTGCTGCCCCCCATGTGCACCTGTTGGGGGCCAGGGTCAGCCCTCAGTGCCTTCCACGTGCCACTCGCAGGTGACATACCAGCTGAAGATCCTGACCACAGCGCTGTTCTCCGTGCTCATGCTGAATCGCAGCCTTTCCCGGCTGCAGTGGGCCTCCCTGCTGCTCCTCTTCACTGGCGTCGCCATTGTCCAGGCACAGCAAGCCGGTGGGGGAGGCCCACGGCCACTGGATCAGAACCCTGGGGCAGGCCTGGCAGCCGTCGTGGCCTCCTGTCTCTCCTCCGGCTTCGCAGGTGTCTACTTTGAGAAGATCCTCAAAGGCAGCTCAGGCTCCGTGTGGCTGCGCAACCTGCAACTGGGCCTCTTCGGCACAGCACTGGGCCTGGTGGGGCTCTGGTGGGCTGAGGGTACCGCCGTGGC) c.211+287_338delinsTTAAAGAGCCTGGATTCTGGGGCCAGGCTGTCTGGGTTCAAATCTCAGCTCTGCTACCTTCCAGCTGTGTGATTTTGGGGCACGTCACCTAACCTCTCTGTGCCTTAGTTTTCTCACCTTTAAATTGGGGCTTACAGTGGTGCTCACTTCAGAATGGTGTTGTGAGAATTAAATGAATGAATTCACGTGCAGTGCCTAGAACCACACTGATATATTGTAAGCACTATGTAAGTATTTGCTGACATTGTTGTGGCTATTGATTCATTTGTATCAAGTCCCTCATCACAAAGATACTTCCATACCTCAGCCATCTTTTATAGATGATGATGCCAGGGCTCAGACAGGGCAAGTGCTTTGTCCCCAGTCACACAGCCAGGAAATGGGATTGGGATGTGGACTTCTTGGCACAGCCATCCTTTTGTGCACTTGCTGGGAGAGACTTCAGAACTGTTTTGCTGCAGCTCAGCCAATGGCCAGTGGCTGGCTCCTTTTGCTGTTTTTGCTGTCATACCCCCCACCCTGTCCCTCCATTGTGCCTGGGGGCCCACAGTGGGTGCTGCCCCCCATGTGCACCTGTTGGGGGCCAGGGTCAGCCCTCAGTGCCTTCCACGTGCCACTCGCAGGTGACATACCAGCTGAAGATCCTGACCACAGCGCTGTTCTCCGTGCTCATGCTGAATCGCAGCCTTTCCCGGCTGCAGTGGGCCTCCCTGCTGCTCCTCTTCACTGGCGTCGCCATTGTCCAGGCACAGCAAGCCGGTGGGGGAGGCCCACGGCCACTGGATCAGAACCCTGGGGCAGGCCTGGCAGCCGTCGTGGCCTCCTGTCTCTCCTCCGGCTTCGCAGGTGTCTACTTTGAGAAGATCCTCAAAGGCAGCTCAGGCTCCGTGTGGCTGCGCAACCTGCAACTGGGCCTCTTCGGCACAGCACTGGGCCTGGTGGGGCTCTGGTGGGCTGAGGGTACCGCCGTGGC c.510+287_860delinsTTAAAGAGCCTGGATTCTGGGGCCAGGCTGTCTGGGTTCAAATCTCAGCTCTGCTACCTTCCAGCTGTGTGATTTTGGGGCACGTCACCTAACCTCTCTGTGCCTTAGTTTTCTCACCTTTAAATTGGGGCTTACAGTGGTGCTCACTTCAGAATGGTGTTGTGAGAATTAAATGAATGAATTCACGTGCAGTGCCTAGAACCACACTGATATATTGTAAGCACTATGTAAGTATTTGCTGACATTGTTGTGGCTATTGATTCATTTGTATCAAGTCCCTCATCACAAAGATACTTCCATACCTCAGCCATCTTTTATAGATGATGATGCCAGGGCTCAGACAGGGCAAGTGCTTTGTCCCCAGTCACACAGCCAGGAAATGGGATTGGGATGTGGACTTCTTGGCACAGCCATCCTTTTGTGCACTTGCTGGGAGAGACTTCAGAACTGTTTTGCTGCAGCTCAGCCAATGGCCAGTGGCTGGCTCCTTTTGCTGTTTTTGCTGTCATACCCCCCACCCTGTCCCTCCATTGTGCCTGGGGGCCCACAGTGGGTGCTGCCCCCCATGTGCACCTGTTGGGGGCCAGGGTCAGCCCTCAGTGCCTTCCACGTGCCACTCGCAGGTGACATACCAGCTGAAGATCCTGACCACAGCGCTGTTCTCCGTGCTCATGCTGAATCGCAGCCTTTCCCGGCTGCAGTGGGCCTCCCTGCTGCTCCTCTTCACTGGCGTCGCCATTGTCCAGGCACAGCAAGCCGGTGGGGGAGGCCCACGGCCACTGGATCAGAACCCTGGGGCAGGCCTGGCAGCCGTCGTGGCCTCCTGTCTCTCCTCCGGCTTCGCAGGTGTCTACTTTGAGAAGATCCTCAAAGGCAGCTCAGGCTCCGTGTGGCTGCGCAACCTGCAACTGGGCCTCTTCGGCACAGCACTGGGCCTGGTGGGGCTCTGGTGGGCTGAGGGTACCGCCGTGGC c.465+287_815delinsTTAAAGAGCCTGGATTCTGGGGCCAGGCTGTCTGGGTTCAAATCTCAGCTCTGCTACCTTCCAGCTGTGTGATTTTGGGGCACGTCACCTAACCTCTCTGTGCCTTAGTTTTCTCACCTTTAAATTGGGGCTTACAGTGGTGCTCACTTCAGAATGGTGTTGTGAGAATTAAATGAATGAATTCACGTGCAGTGCCTAGAACCACACTGATATATTGTAAGCACTATGTAAGTATTTGCTGACATTGTTGTGGCTATTGATTCATTTGTATCAAGTCCCTCATCACAAAGATACTTCCATACCTCAGCCATCTTTTATAGATGATGATGCCAGGGCTCAGACAGGGCAAGTGCTTTGTCCCCAGTCACACAGCCAGGAAATGGGATTGGGATGTGGACTTCTTGGCACAGCCATCCTTTTGTGCACTTGCTGGGAGAGACTTCAGAACTGTTTTGCTGCAGCTCAGCCAATGGCCAGTGGCTGGCTCCTTTTGCTGTTTTTGCTGTCATACCCCCCACCCTGTCCCTCCATTGTGCCTGGGGGCCCACAGTGGGTGCTGCCCCCCATGTGCACCTGTTGGGGGCCAGGGTCAGCCCTCAGTGCCTTCCACGTGCCACTCGCAGGTGACATACCAGCTGAAGATCCTGACCACAGCGCTGTTCTCCGTGCTCATGCTGAATCGCAGCCTTTCCCGGCTGCAGTGGGCCTCCCTGCTGCTCCTCTTCACTGGCGTCGCCATTGTCCAGGCACAGCAAGCCGGTGGGGGAGGCCCACGGCCACTGGATCAGAACCCTGGGGCAGGCCTGGCAGCCGTCGTGGCCTCCTGTCTCTCCTCCGGCTTCGCAGGTGTCTACTTTGAGAAGATCCTCAAAGGCAGCTCAGGCTCCGTGTGGCTGCGCAACCTGCAACTGGGCCTCTTCGGCACAGCACTGGGCCTGGTGGGGCTCTGGTGGGCTGAGGGTACCGCCGTGGC c.424+287_424+1259delinsTTAAAGAGCCTGGATTCTGGGGCCAGGCTGTCTGGGTTCAAATCTCAGCTCTGCTACCTTCCAGCTGTGTGATTTTGGGGCACGTCACCTAACCTCTCTGTGCCTTAGTTTTCTCACCTTTAAATTGGGGCTTACAGTGGTGCTCACTTCAGAATGGTGTTGTGAGAATTAAATGAATGAATTCACGTGCAGTGCCTAGAACCACACTGATATATTGTAAGCACTATGTAAGTATTTGCTGACATTGTTGTGGCTATTGATTCATTTGTATCAAGTCCCTCATCACAAAGATACTTCCATACCTCAGCCATCTTTTATAGATGATGATGCCAGGGCTCAGACAGGGCAAGTGCTTTGTCCCCAGTCACACAGCCAGGAAATGGGATTGGGATGTGGACTTCTTGGCACAGCCATCCTTTTGTGCACTTGCTGGGAGAGACTTCAGAACTGTTTTGCTGCAGCTCAGCCAATGGCCAGTGGCTGGCTCCTTTTGCTGTTTTTGCTGTCATACCCCCCACCCTGTCCCTCCATTGTGCCTGGGGGCCCACAGTGGGTGCTGCCCCCCATGTGCACCTGTTGGGGGCCAGGGTCAGCCCTCAGTGCCTTCCACGTGCCACTCGCAGGTGACATACCAGCTGAAGATCCTGACCACAGCGCTGTTCTCCGTGCTCATGCTGAATCGCAGCCTTTCCCGGCTGCAGTGGGCCTCCCTGCTGCTCCTCTTCACTGGCGTCGCCATTGTCCAGGCACAGCAAGCCGGTGGGGGAGGCCCACGGCCACTGGATCAGAACCCTGGGGCAGGCCTGGCAGCCGTCGTGGCCTCCTGTCTCTCCTCCGGCTTCGCAGGTGTCTACTTTGAGAAGATCCTCAAAGGCAGCTCAGGCTCCGTGTGGCTGCGCAACCTGCAACTGGGCCTCTTCGGCACAGCACTGGGCCTGGTGGGGCTCTGGTGGGCTGAGGGTACCGCCGTGGC c.243+287_593delinsTTAAAGAGCCTGGATTCTGGGGCCAGGCTGTCTGGGTTCAAATCTCAGCTCTGCTACCTTCCAGCTGTGTGATTTTGGGGCACGTCACCTAACCTCTCTGTGCCTTAGTTTTCTCACCTTTAAATTGGGGCTTACAGTGGTGCTCACTTCAGAATGGTGTTGTGAGAATTAAATGAATGAATTCACGTGCAGTGCCTAGAACCACACTGATATATTGTAAGCACTATGTAAGTATTTGCTGACATTGTTGTGGCTATTGATTCATTTGTATCAAGTCCCTCATCACAAAGATACTTCCATACCTCAGCCATCTTTTATAGATGATGATGCCAGGGCTCAGACAGGGCAAGTGCTTTGTCCCCAGTCACACAGCCAGGAAATGGGATTGGGATGTGGACTTCTTGGCACAGCCATCCTTTTGTGCACTTGCTGGGAGAGACTTCAGAACTGTTTTGCTGCAGCTCAGCCAATGGCCAGTGGCTGGCTCCTTTTGCTGTTTTTGCTGTCATACCCCCCACCCTGTCCCTCCATTGTGCCTGGGGGCCCACAGTGGGTGCTGCCCCCCATGTGCACCTGTTGGGGGCCAGGGTCAGCCCTCAGTGCCTTCCACGTGCCACTCGCAGGTGACATACCAGCTGAAGATCCTGACCACAGCGCTGTTCTCCGTGCTCATGCTGAATCGCAGCCTTTCCCGGCTGCAGTGGGCCTCCCTGCTGCTCCTCTTCACTGGCGTCGCCATTGTCCAGGCACAGCAAGCCGGTGGGGGAGGCCCACGGCCACTGGATCAGAACCCTGGGGCAGGCCTGGCAGCCGTCGTGGCCTCCTGTCTCTCCTCCGGCTTCGCAGGTGTCTACTTTGAGAAGATCCTCAAAGGCAGCTCAGGCTCCGTGTGGCTGCGCAACCTGCAACTGGGCCTCTTCGGCACAGCACTGGGCCTGGTGGGGCTCTGGTGGGCTGAGGGTACCGCCGTGGC c.*320+287_*670delinsTTAAAGAGCCTGGATTCTGGGGCCAGGCTGTCTGGGTTCAAATCTCAGCTCTGCTACCTTCCAGCTGTGTGATTTTGGGGCACGTCACCTAACCTCTCTGTGCCTTAGTTTTCTCACCTTTAAATTGGGGCTTACAGTGGTGCTCACTTCAGAATGGTGTTGTGAGAATTAAATGAATGAATTCACGTGCAGTGCCTAGAACCACACTGATATATTGTAAGCACTATGTAAGTATTTGCTGACATTGTTGTGGCTATTGATTCATTTGTATCAAGTCCCTCATCACAAAGATACTTCCATACCTCAGCCATCTTTTATAGATGATGATGCCAGGGCTCAGACAGGGCAAGTGCTTTGTCCCCAGTCACACAGCCAGGAAATGGGATTGGGATGTGGACTTCTTGGCACAGCCATCCTTTTGTGCACTTGCTGGGAGAGACTTCAGAACTGTTTTGCTGCAGCTCAGCCAATGGCCAGTGGCTGGCTCCTTTTGCTGTTTTTGCTGTCATACCCCCCACCCTGTCCCTCCATTGTGCCTGGGGGCCCACAGTGGGTGCTGCCCCCCATGTGCACCTGTTGGGGGCCAGGGTCAGCCCTCAGTGCCTTCCACGTGCCACTCGCAGGTGACATACCAGCTGAAGATCCTGACCACAGCGCTGTTCTCCGTGCTCATGCTGAATCGCAGCCTTTCCCGGCTGCAGTGGGCCTCCCTGCTGCTCCTCTTCACTGGCGTCGCCATTGTCCAGGCACAGCAAGCCGGTGGGGGAGGCCCACGGCCACTGGATCAGAACCCTGGGGCAGGCCTGGCAGCCGTCGTGGCCTCCTGTCTCTCCTCCGGCTTCGCAGGTGTCTACTTTGAGAAGATCCTCAAAGGCAGCTCAGGCTCCGTGTGGCTGCGCAACCTGCAACTGGGCCTCTTCGGCACAGCACTGGGCCTGGTGGGGCTCTGGTGGGCTGAGGGTACCGCCGTGGC | |
X | g.48905134C>A | CA412895245 | SLC35A2 | c.775G>T (p.Ala259Ser) c.355-242G>T (n.355-242G>T) c.427-242G>T (n.427-242G>T) c.337G>T c.859G>T (p.Ala287Ser) c.814G>T (p.Ala272Ser) c.424+1258G>T c.592G>T (p.Ala198Ser) c.*669G>T (n.*669G>T) | |
X | g.48905134C= | CA2428428881 | SLC35A2 | c.775G= (p.Ala259=) c.355-242G= (n.355-242G=) c.427-242G= (n.427-242G=) c.337G= c.859G= (p.Ala287=) c.814G= (p.Ala272=) c.424+1258G= c.592G= (p.Ala198=) c.*669G= (n.*669G=) | |
X | g.48905134C>G | CA412895246 | SLC35A2 | c.775G>C (p.Ala259Pro) c.355-242G>C (n.355-242G>C) c.427-242G>C (n.427-242G>C) c.337G>C c.859G>C (p.Ala287Pro) c.814G>C (p.Ala272Pro) c.424+1258G>C c.592G>C (p.Ala198Pro) c.*669G>C (n.*669G>C) | |
X | g.48905134C>T | CA10406097 | SLC35A2 | c.775G>A (p.Ala259Thr) c.355-242G>A (n.355-242G>A) c.427-242G>A (n.427-242G>A) c.337G>A c.859G>A (p.Ala287Thr) c.814G>A (p.Ala272Thr) c.424+1258G>A c.592G>A (p.Ala198Thr) c.*669G>A (n.*669G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48905137_48906108del | CA16616606 | SLC35A2 | c.426+287_775del c.354+287_355-242del (n.354+287_355-242del) c.426+287_427-242del (n.426+287_427-242del) c.211+287_337del c.510+287_859del c.465+287_814del c.424+287_424+1258del c.243+287_592del c.*320+287_*669del | ClinVar dbSNP |
X | g.48905135C>A | CA516360090 | SLC35A2 | c.774G>T (p.Val258=) c.355-243G>T (n.355-243G>T) c.427-243G>T (n.427-243G>T) c.336G>T c.858G>T (p.Val286=) c.813G>T (p.Val271=) c.424+1257G>T c.591G>T (p.Val197=) c.*668G>T (n.*668G>T) | |
X | g.48905135C>G | CA516360092 | SLC35A2 | c.774G>C (p.Val258=) c.355-243G>C (n.355-243G>C) c.427-243G>C (n.427-243G>C) c.336G>C c.858G>C (p.Val286=) c.813G>C (p.Val271=) c.424+1257G>C c.591G>C (p.Val197=) c.*668G>C (n.*668G>C) | |
X | g.48905135C>T | CA516360093 | SLC35A2 | c.774G>A (p.Val258=) c.355-243G>A (n.355-243G>A) c.427-243G>A (n.427-243G>A) c.336G>A c.858G>A (p.Val286=) c.813G>A (p.Val271=) c.424+1257G>A c.591G>A (p.Val197=) c.*668G>A (n.*668G>A) | |
X | g.48905136A>C | CA412895247 | SLC35A2 | c.773T>G (p.Val258Gly) c.355-244T>G (n.355-244T>G) c.427-244T>G (n.427-244T>G) c.335T>G c.857T>G (p.Val286Gly) c.812T>G (p.Val271Gly) c.424+1256T>G c.590T>G (p.Val197Gly) c.*667T>G (n.*667T>G) | |
X | g.48905136A>G | CA412895249 | SLC35A2 | c.773T>C (p.Val258Ala) c.355-244T>C (n.355-244T>C) c.427-244T>C (n.427-244T>C) c.335T>C c.857T>C (p.Val286Ala) c.812T>C (p.Val271Ala) c.424+1256T>C c.590T>C (p.Val197Ala) c.*667T>C (n.*667T>C) | |
X | g.48905136A>T | CA412895248 | SLC35A2 | c.773T>A (p.Val258Glu) c.355-244T>A (n.355-244T>A) c.427-244T>A (n.427-244T>A) c.335T>A c.857T>A (p.Val286Glu) c.812T>A (p.Val271Glu) c.424+1256T>A c.590T>A (p.Val197Glu) c.*667T>A (n.*667T>A) | |
X | g.48905137C>A | CA412895250 | SLC35A2 | c.772G>T (p.Val258Leu) c.355-245G>T (n.355-245G>T) c.427-245G>T (n.427-245G>T) c.334G>T c.856G>T (p.Val286Leu) c.811G>T (p.Val271Leu) c.424+1255G>T c.589G>T (p.Val197Leu) c.*666G>T (n.*666G>T) | |
X | g.48905137C= | CA2428428882 | SLC35A2 | c.772G= (p.Val258=) c.355-245G= (n.355-245G=) c.427-245G= (n.427-245G=) c.334G= c.856G= (p.Val286=) c.811G= (p.Val271=) c.424+1255G= c.589G= (p.Val197=) c.*666G= (n.*666G=) | |
X | g.48905137C>G | CA412895251 | SLC35A2 | c.772G>C (p.Val258Leu) c.355-245G>C (n.355-245G>C) c.427-245G>C (n.427-245G>C) c.334G>C c.856G>C (p.Val286Leu) c.811G>C (p.Val271Leu) c.424+1255G>C c.589G>C (p.Val197Leu) c.*666G>C (n.*666G>C) | |
X | g.48905137C>T | CA412895252 | SLC35A2 | c.772G>A (p.Val258Met) c.355-245G>A (n.355-245G>A) c.427-245G>A (n.427-245G>A) c.334G>A c.856G>A (p.Val286Met) c.811G>A (p.Val271Met) c.424+1255G>A c.589G>A (p.Val197Met) c.*666G>A (n.*666G>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.48905137_48905143del | CA916084082 | SLC35A2 | c.766_772del (p.Thr256TrpfsTer?) c.355-251_355-245del (n.355-251_355-245del) c.427-251_427-245del (n.427-251_427-245del) c.328_334del c.850_856del (p.Thr284TrpfsTer?) c.805_811del (p.Thr269TrpfsTer?) c.424+1249_424+1255del c.583_589del (p.Thr195TrpfsTer?) c.*660_*666del (n.*660_*666del) | |
X | g.48905138G>A | CA10406098 | SLC35A2 | c.771C>T (p.Ala257=) c.355-246C>T (n.355-246C>T) c.427-246C>T (n.427-246C>T) c.333C>T c.855C>T (p.Ala285=) c.810C>T (p.Ala270=) c.424+1254C>T c.588C>T (p.Ala196=) c.*665C>T (n.*665C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48905138G>C | CA516360098 | SLC35A2 | c.771C>G (p.Ala257=) c.355-246C>G (n.355-246C>G) c.427-246C>G (n.427-246C>G) c.333C>G c.855C>G (p.Ala285=) c.810C>G (p.Ala270=) c.424+1254C>G c.588C>G (p.Ala196=) c.*665C>G (n.*665C>G) | |
X | g.48905138G= | CA2428428883 | SLC35A2 | c.771C= (p.Ala257=) c.355-246C= (n.355-246C=) c.427-246C= (n.427-246C=) c.333C= c.855C= (p.Ala285=) c.810C= (p.Ala270=) c.424+1254C= c.588C= (p.Ala196=) c.*665C= (n.*665C=) | |
X | g.48905138G>T | CA516360099 | SLC35A2 | c.771C>A (p.Ala257=) c.355-246C>A (n.355-246C>A) c.427-246C>A (n.427-246C>A) c.333C>A c.855C>A (p.Ala285=) c.810C>A (p.Ala270=) c.424+1254C>A c.588C>A (p.Ala196=) c.*665C>A (n.*665C>A) | |
X | g.48905139G>A | CA412895253 | SLC35A2 | c.770C>T (p.Ala257Val) c.355-247C>T (n.355-247C>T) c.427-247C>T (n.427-247C>T) c.332C>T c.854C>T (p.Ala285Val) c.809C>T (p.Ala270Val) c.424+1253C>T c.587C>T (p.Ala196Val) c.*664C>T (n.*664C>T) | |
X | g.48905139G>C | CA412895254 | SLC35A2 | c.770C>G (p.Ala257Gly) c.355-247C>G (n.355-247C>G) c.427-247C>G (n.427-247C>G) c.332C>G c.854C>G (p.Ala285Gly) c.809C>G (p.Ala270Gly) c.424+1253C>G c.587C>G (p.Ala196Gly) c.*664C>G (n.*664C>G) | |
X | g.48905139G>T | CA412895255 | SLC35A2 | c.770C>A (p.Ala257Asp) c.355-247C>A (n.355-247C>A) c.427-247C>A (n.427-247C>A) c.332C>A c.854C>A (p.Ala285Asp) c.809C>A (p.Ala270Asp) c.424+1253C>A c.587C>A (p.Ala196Asp) c.*664C>A (n.*664C>A) | |
X | g.48905140C>A | CA412895256 | SLC35A2 | c.769G>T (p.Ala257Ser) c.355-248G>T (n.355-248G>T) c.427-248G>T (n.427-248G>T) c.331G>T c.853G>T (p.Ala285Ser) c.808G>T (p.Ala270Ser) c.424+1252G>T c.586G>T (p.Ala196Ser) c.*663G>T (n.*663G>T) | |
X | g.48905140C= | CA2428428884 | SLC35A2 | c.769G= (p.Ala257=) c.355-248G= (n.355-248G=) c.427-248G= (n.427-248G=) c.331G= c.853G= (p.Ala285=) c.808G= (p.Ala270=) c.424+1252G= c.586G= (p.Ala196=) c.*663G= (n.*663G=) | |
X | g.48905140C>G | CA412895257 | SLC35A2 | c.769G>C (p.Ala257Pro) c.355-248G>C (n.355-248G>C) c.427-248G>C (n.427-248G>C) c.331G>C c.853G>C (p.Ala285Pro) c.808G>C (p.Ala270Pro) c.424+1252G>C c.586G>C (p.Ala196Pro) c.*663G>C (n.*663G>C) | |
X | g.48905140C>T | CA412895258 | SLC35A2 | c.769G>A (p.Ala257Thr) c.355-248G>A (n.355-248G>A) c.427-248G>A (n.427-248G>A) c.331G>A c.853G>A (p.Ala285Thr) c.808G>A (p.Ala270Thr) c.424+1252G>A c.586G>A (p.Ala196Thr) c.*663G>A (n.*663G>A) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
X | g.48905141G>A | CA10406099 | SLC35A2 | c.768C>T (p.Thr256=) c.355-249C>T (n.355-249C>T) c.427-249C>T (n.427-249C>T) c.330C>T c.852C>T (p.Thr284=) c.807C>T (p.Thr269=) c.424+1251C>T c.585C>T (p.Thr195=) c.*662C>T (n.*662C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48905141G>C | CA516360111 | SLC35A2 | c.768C>G (p.Thr256=) c.355-249C>G (n.355-249C>G) c.427-249C>G (n.427-249C>G) c.330C>G c.852C>G (p.Thr284=) c.807C>G (p.Thr269=) c.424+1251C>G c.585C>G (p.Thr195=) c.*662C>G (n.*662C>G) | |
X | g.48905141G= | CA2428428885 | SLC35A2 | c.768C= (p.Thr256=) c.355-249C= (n.355-249C=) c.427-249C= (n.427-249C=) c.330C= c.852C= (p.Thr284=) c.807C= (p.Thr269=) c.424+1251C= c.585C= (p.Thr195=) c.*662C= (n.*662C=) | |
X | g.48905141G>T | CA516360113 | SLC35A2 | c.768C>A (p.Thr256=) c.355-249C>A (n.355-249C>A) c.427-249C>A (n.427-249C>A) c.330C>A c.852C>A (p.Thr284=) c.807C>A (p.Thr269=) c.424+1251C>A c.585C>A (p.Thr195=) c.*662C>A (n.*662C>A) | |
X | g.48905142G>A | CA412895261 | SLC35A2 | c.767C>T (p.Thr256Ile) c.355-250C>T (n.355-250C>T) c.427-250C>T (n.427-250C>T) c.329C>T c.851C>T (p.Thr284Ile) c.806C>T (p.Thr269Ile) c.424+1250C>T c.584C>T (p.Thr195Ile) c.*661C>T (n.*661C>T) | |
X | g.48905142G>C | CA412895260 | SLC35A2 | c.767C>G (p.Thr256Ser) c.355-250C>G (n.355-250C>G) c.427-250C>G (n.427-250C>G) c.329C>G c.851C>G (p.Thr284Ser) c.806C>G (p.Thr269Ser) c.424+1250C>G c.584C>G (p.Thr195Ser) c.*661C>G (n.*661C>G) | |
X | g.48905142G>T | CA412895259 | SLC35A2 | c.767C>A (p.Thr256Asn) c.355-250C>A (n.355-250C>A) c.427-250C>A (n.427-250C>A) c.329C>A c.851C>A (p.Thr284Asn) c.806C>A (p.Thr269Asn) c.424+1250C>A c.584C>A (p.Thr195Asn) c.*661C>A (n.*661C>A) | |
X | g.48905143T>A | CA412895262 | SLC35A2 | c.766A>T (p.Thr256Ser) c.355-251A>T (n.355-251A>T) c.427-251A>T (n.427-251A>T) c.328A>T c.850A>T (p.Thr284Ser) c.805A>T (p.Thr269Ser) c.424+1249A>T c.583A>T (p.Thr195Ser) c.*660A>T (n.*660A>T) | |
X | g.48905143T>C | CA412895263 | SLC35A2 | c.766A>G (p.Thr256Ala) c.355-251A>G (n.355-251A>G) c.427-251A>G (n.427-251A>G) c.328A>G c.850A>G (p.Thr284Ala) c.805A>G (p.Thr269Ala) c.424+1249A>G c.583A>G (p.Thr195Ala) c.*660A>G (n.*660A>G) | |
X | g.48905143T>G | CA412895264 | SLC35A2 | c.766A>C (p.Thr256Pro) c.355-251A>C (n.355-251A>C) c.427-251A>C (n.427-251A>C) c.328A>C c.850A>C (p.Thr284Pro) c.805A>C (p.Thr269Pro) c.424+1249A>C c.583A>C (p.Thr195Pro) c.*660A>C (n.*660A>C) | |
X | g.48905144A>C | CA516360117 | SLC35A2 | c.765T>G (p.Gly255=) c.355-252T>G (n.355-252T>G) c.427-252T>G (n.427-252T>G) c.327T>G c.849T>G (p.Gly283=) c.804T>G (p.Gly268=) c.424+1248T>G c.582T>G (p.Gly194=) c.*659T>G (n.*659T>G) | |
X | g.48905144A>G | CA516360119 | SLC35A2 | c.765T>C (p.Gly255=) c.355-252T>C (n.355-252T>C) c.427-252T>C (n.427-252T>C) c.327T>C c.849T>C (p.Gly283=) c.804T>C (p.Gly268=) c.424+1248T>C c.582T>C (p.Gly194=) c.*659T>C (n.*659T>C) | |
X | g.48905144A>T | CA516360122 | SLC35A2 | c.765T>A (p.Gly255=) c.355-252T>A (n.355-252T>A) c.427-252T>A (n.427-252T>A) c.327T>A c.849T>A (p.Gly283=) c.804T>A (p.Gly268=) c.424+1248T>A c.582T>A (p.Gly194=) c.*659T>A (n.*659T>A) | |
X | g.48905145C>A | CA412895265 | SLC35A2 | c.764G>T (p.Gly255Val) c.355-253G>T (n.355-253G>T) c.427-253G>T (n.427-253G>T) c.326G>T c.848G>T (p.Gly283Val) c.803G>T (p.Gly268Val) c.424+1247G>T c.581G>T (p.Gly194Val) c.*658G>T (n.*658G>T) | |
X | g.48905145C>G | CA412895266 | SLC35A2 | c.764G>C (p.Gly255Ala) c.355-253G>C (n.355-253G>C) c.427-253G>C (n.427-253G>C) c.326G>C c.848G>C (p.Gly283Ala) c.803G>C (p.Gly268Ala) c.424+1247G>C c.581G>C (p.Gly194Ala) c.*658G>C (n.*658G>C) | |
X | g.48905145C>T | CA412895267 | SLC35A2 | c.764G>A (p.Gly255Asp) c.355-253G>A (n.355-253G>A) c.427-253G>A (n.427-253G>A) c.326G>A c.848G>A (p.Gly283Asp) c.803G>A (p.Gly268Asp) c.424+1247G>A c.581G>A (p.Gly194Asp) c.*658G>A (n.*658G>A) | |
X | g.48905146C>A | CA412895268 | SLC35A2 | c.763G>T (p.Gly255Cys) c.355-254G>T (n.355-254G>T) c.427-254G>T (n.427-254G>T) c.325G>T c.847G>T (p.Gly283Cys) c.802G>T (p.Gly268Cys) c.424+1246G>T c.580G>T (p.Gly194Cys) c.*657G>T (n.*657G>T) | |
X | g.48905146C>G | CA412895269 | SLC35A2 | c.763G>C (p.Gly255Arg) c.355-254G>C (n.355-254G>C) c.427-254G>C (n.427-254G>C) c.325G>C c.847G>C (p.Gly283Arg) c.802G>C (p.Gly268Arg) c.424+1246G>C c.580G>C (p.Gly194Arg) c.*657G>C (n.*657G>C) | |
X | g.48905146C>T | CA412895270 | SLC35A2 | c.763G>A (p.Gly255Ser) c.355-254G>A (n.355-254G>A) c.427-254G>A (n.427-254G>A) c.325G>A c.847G>A (p.Gly283Ser) c.802G>A (p.Gly268Ser) c.424+1246G>A c.580G>A (p.Gly194Ser) c.*657G>A (n.*657G>A) | |
X | g.48905147C>A | CA412895271 | SLC35A2 | c.762G>T (p.Glu254Asp) c.355-255G>T (n.355-255G>T) c.427-255G>T (n.427-255G>T) c.324G>T c.846G>T (p.Glu282Asp) c.801G>T (p.Glu267Asp) c.424+1245G>T c.579G>T (p.Glu193Asp) c.*656G>T (n.*656G>T) | |
X | g.48905147C>G | CA412895272 | SLC35A2 | c.762G>C (p.Glu254Asp) c.355-255G>C (n.355-255G>C) c.427-255G>C (n.427-255G>C) c.324G>C c.846G>C (p.Glu282Asp) c.801G>C (p.Glu267Asp) c.424+1245G>C c.579G>C (p.Glu193Asp) c.*656G>C (n.*656G>C) | |
X | g.48905147C>T | CA516360130 | SLC35A2 | c.762G>A (p.Glu254=) c.355-255G>A (n.355-255G>A) c.427-255G>A (n.427-255G>A) c.324G>A c.846G>A (p.Glu282=) c.801G>A (p.Glu267=) c.424+1245G>A c.579G>A (p.Glu193=) c.*656G>A (n.*656G>A) |