NM_006516.4(SLC2A1):c.1454C>T (p.Pro485Leu)
|
rs1159593580
|
0.00001
|
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp)
|
rs267607061
|
0.00001
|
NM_006516.4(SLC2A1):c.278G>A (p.Arg93Gln)
|
rs80359815
|
0.00001
|
NM_006516.4(SLC2A1):c.286A>G (p.Met96Val)
|
rs753161833
|
0.00001
|
NM_006516.4(SLC2A1):c.457C>T (p.Arg153Cys)
|
rs1643479461
|
0.00001
|
NC_000001.10:g.(?_43391628)_(43393369_?)del
|
|
|
NC_000001.10:g.(?_43392712)_(43396897_?)del
|
|
|
NC_000001.10:g.(?_43395244)_(43395726_?)del
|
|
|
NC_000001.10:g.(?_43424285)_(43424429_?)del
|
|
|
NC_000001.11:g.(?_42927021)_(42931226_?)del
|
|
|
NC_000001.11:g.(?_42928912)_(42943341_?)del
|
|
|
NC_000001.11:g.(?_42929853)_(42931226_?)del
|
|
|
NC_000001.11:g.(?_42958614)_(42958671_?)del
|
|
|
NM_006516.4(SLC2A1):c.1017dup (p.Gly340fs)
|
rs2124447989
|
|
NM_006516.4(SLC2A1):c.101A>G (p.Asn34Ser)
|
rs80359812
|
|
NM_006516.4(SLC2A1):c.1075G>T (p.Glu359Ter)
|
rs1643443798
|
|
NM_006516.4(SLC2A1):c.1088G>A (p.Trp363Ter)
|
rs1570591031
|
|
NM_006516.4(SLC2A1):c.1100_1101del (p.Leu367fs)
|
|
|
NM_006516.4(SLC2A1):c.115-1_115dup
|
rs1557646893
|
|
NM_006516.4(SLC2A1):c.1164del (p.Trp388fs)
|
rs2124446431
|
|
NM_006516.4(SLC2A1):c.1179del (p.Glu393fs)
|
rs1553155887
|
|
NM_006516.4(SLC2A1):c.1185del (p.Phe395fs)
|
|
|
NM_006516.4(SLC2A1):c.1189C>T (p.Gln397Ter)
|
|
|
NM_006516.4(SLC2A1):c.1198C>T (p.Arg400Cys)
|
rs796053263
|
|
NM_006516.4(SLC2A1):c.1199G>A (p.Arg400His)
|
rs776095655
|
|
NM_006516.4(SLC2A1):c.1199G>T (p.Arg400Leu)
|
rs776095655
|
|
NM_006516.4(SLC2A1):c.1208C>T (p.Ala403Val)
|
|
|
NM_006516.4(SLC2A1):c.1215dup (p.Val406fs)
|
rs2124446296
|
|
NM_006516.4(SLC2A1):c.1224_1225del (p.Phe409fs)
|
rs2124446266
|
|
NM_006516.4(SLC2A1):c.124G>T (p.Glu42Ter)
|
rs2124450939
|
|
NM_006516.4(SLC2A1):c.1256G>A (p.Gly419Asp)
|
rs139722450
|
|
NM_006516.4(SLC2A1):c.1257C>T (p.Gly419=)
|
rs1557644989
|
|
NM_006516.4(SLC2A1):c.1266C>A (p.Phe422Leu)
|
rs2124446209
|
|
NM_006516.4(SLC2A1):c.1272T>G (p.Tyr424Ter)
|
rs796053264
|
|
NM_006516.4(SLC2A1):c.1276G>T (p.Glu426Ter)
|
rs1643440876
|
|
NM_006516.4(SLC2A1):c.1296C>A (p.Tyr432Ter)
|
rs75485205
|
|
NM_006516.4(SLC2A1):c.1351A>T (p.Lys451Ter)
|
|
|
NM_006516.4(SLC2A1):c.136C>T (p.Gln46Ter)
|
rs754791604
|
|
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp)
|
rs13306758
|
|
NM_006516.4(SLC2A1):c.1402C>T (p.Arg468Trp)
|
rs267607059
|
|
NM_006516.4(SLC2A1):c.1412del (p.Gly471fs)
|
rs2124445408
|
|
NM_006516.4(SLC2A1):c.1412dup (p.Ala472fs)
|
rs2124445408
|
|
NM_006516.4(SLC2A1):c.143G>A (p.Trp48Ter)
|
|
|
NM_006516.4(SLC2A1):c.163_164dup (p.Ser55fs)
|
|
|
NM_006516.4(SLC2A1):c.18+1G>A
|
rs80359841
|
|
NM_006516.4(SLC2A1):c.18+2T>G
|
rs1643807832
|
|
NM_006516.4(SLC2A1):c.1A>C (p.Met1Leu)
|
|
|
NM_006516.4(SLC2A1):c.202dup (p.Ser68fs)
|
|
|
NM_006516.4(SLC2A1):c.203C>T (p.Ser68Leu)
|
rs1570593865
|
|
NM_006516.4(SLC2A1):c.216T>G (p.Phe72Leu)
|
|
|
NM_006516.4(SLC2A1):c.227dup (p.Met77fs)
|
rs1553156199
|
|
NM_006516.4(SLC2A1):c.229_239del (p.Met77fs)
|
rs1643484447
|
|
NM_006516.4(SLC2A1):c.248_249del (p.Val83fs)
|
|
|
NM_006516.4(SLC2A1):c.272_273insAAGG (p.Arg93fs)
|
|
|
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp)
|
rs202060209
|
|
NM_006516.4(SLC2A1):c.275+1G>A
|
rs2124450697
|
|
NM_006516.4(SLC2A1):c.276-1G>A
|
rs1570593665
|
|
NM_006516.4(SLC2A1):c.276-2A>G
|
|
|
NM_006516.4(SLC2A1):c.287T>C (p.Met96Thr)
|
rs1643481875
|
|
NM_006516.4(SLC2A1):c.294_310del (p.Met98fs)
|
rs2124450420
|
|
NM_006516.4(SLC2A1):c.294dup (p.Met99fs)
|
rs2124450471
|
|
NM_006516.4(SLC2A1):c.2T>C (p.Met1Thr)
|
rs1553157935
|
|
NM_006516.4(SLC2A1):c.305del (p.Leu102fs)
|
rs1570593621
|
|
NM_006516.4(SLC2A1):c.311_314del (p.Phe104fs)
|
|
|
NM_006516.4(SLC2A1):c.374del (p.Gly125fs)
|
rs1643480570
|
|
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)
|
rs80359818
|
|
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His)
|
rs80359816
|
|
NM_006516.4(SLC2A1):c.385dup (p.Ile129fs)
|
rs2124450273
|
|
NM_006516.4(SLC2A1):c.388G>A (p.Gly130Ser)
|
rs80359819
|
|
NM_006516.4(SLC2A1):c.388G>T (p.Gly130Cys)
|
rs80359819
|
|
NM_006516.4(SLC2A1):c.392_460del (p.Val131_Arg153del)
|
rs1570593449
|
|
NM_006516.4(SLC2A1):c.397T>C (p.Cys133Arg)
|
rs1643480228
|
|
NM_006516.4(SLC2A1):c.400G>A (p.Gly134Ser)
|
rs1057518953
|
|
NM_006516.4(SLC2A1):c.418G>A (p.Val140Met)
|
rs1057517822
|
|
NM_006516.4(SLC2A1):c.418G>C (p.Val140Leu)
|
rs1057517822
|
|
NM_006516.4(SLC2A1):c.420del (p.Met142fs)
|
rs1570593475
|
|
NM_006516.4(SLC2A1):c.431dup (p.Gly145_Glu146insTer)
|
rs2124450179
|
|
NM_006516.4(SLC2A1):c.443C>T (p.Ser148Leu)
|
rs1643479604
|
|
NM_006516.4(SLC2A1):c.451dup (p.Ala151fs)
|
rs2124450132
|
|
NM_006516.4(SLC2A1):c.458G>A (p.Arg153His)
|
rs794727642
|
|
NM_006516.4(SLC2A1):c.469_475del (p.Gly157fs)
|
|
|
NM_006516.4(SLC2A1):c.481C>T (p.Gln161Ter)
|
rs1413339367
|
|
NM_006516.4(SLC2A1):c.491TCG[2] (p.Val166del)
|
rs2124450060
|
|
NM_006516.4(SLC2A1):c.493G>A (p.Val165Ile)
|
rs1057520545
|
|
NM_006516.4(SLC2A1):c.505_507del (p.Leu169del)
|
rs80359832
|
|
NM_006516.4(SLC2A1):c.517-1G>A
|
rs869312673
|
|
NM_006516.4(SLC2A1):c.517-2A>C
|
|
|
NM_006516.4(SLC2A1):c.539T>A (p.Met180Lys)
|
|
|
NM_006516.4(SLC2A1):c.557G>A (p.Trp186Ter)
|
rs1570592933
|
|
NM_006516.4(SLC2A1):c.558G>A (p.Trp186Ter)
|
rs2124449417
|
|
NM_006516.4(SLC2A1):c.566del (p.Leu189fs)
|
|
|
NM_006516.4(SLC2A1):c.57del (p.Val20fs)
|
rs1570601051
|
|
NM_006516.4(SLC2A1):c.598C>T (p.Gln200Ter)
|
rs1057521967
|
|
NM_006516.4(SLC2A1):c.620_621insT (p.Glu209fs)
|
rs1643470035
|
|
NM_006516.4(SLC2A1):c.634C>T (p.Arg212Cys)
|
rs387907312
|
|
NM_006516.4(SLC2A1):c.634del (p.Arg212fs)
|
rs2124449299
|
|
NM_006516.4(SLC2A1):c.635G>A (p.Arg212His)
|
rs886039517
|
|
NM_006516.4(SLC2A1):c.640dup (p.Leu214fs)
|
|
|
NM_006516.4(SLC2A1):c.656dup (p.Asn219fs)
|
rs2124449259
|
|
NM_006516.4(SLC2A1):c.667C>T (p.Arg223Trp)
|
rs796053248
|
|
NM_006516.4(SLC2A1):c.680-11G>A
|
rs1259158687
|
|
NM_006516.4(SLC2A1):c.680-2A>C
|
|
|
NM_006516.4(SLC2A1):c.680-2del
|
rs2124449099
|
|
NM_006516.4(SLC2A1):c.683T>C (p.Leu228Pro)
|
|
|
NM_006516.4(SLC2A1):c.694C>T (p.Arg232Cys)
|
rs387907313
|
|
NM_006516.4(SLC2A1):c.725del (p.Gln242fs)
|
|
|
NM_006516.4(SLC2A1):c.727G>T (p.Glu243Ter)
|
|
|
NM_006516.4(SLC2A1):c.736_739del (p.Glu246fs)
|
rs1570592604
|
|
NM_006516.4(SLC2A1):c.737_740del (p.Glu246fs)
|
|
|
NM_006516.4(SLC2A1):c.751_757dup (p.Arg253fs)
|
rs2124448988
|
|
NM_006516.4(SLC2A1):c.808C>T (p.Gln270Ter)
|
rs1553156053
|
|
NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr)
|
rs121909740
|
|
NM_006516.4(SLC2A1):c.833T>C (p.Leu278Pro)
|
rs2124448851
|
|
NM_006516.4(SLC2A1):c.835C>T (p.Gln279Ter)
|
rs1553156051
|
|
NM_006516.4(SLC2A1):c.836dup (p.Leu280fs)
|
|
|
NM_006516.4(SLC2A1):c.843_854del (p.Gln282_Ser285del)
|
rs2124448824
|
|
NM_006516.4(SLC2A1):c.844C>T (p.Gln282Ter)
|
rs1057521066
|
|
NM_006516.4(SLC2A1):c.844del (p.Gln282fs)
|
rs2124448836
|
|
NM_006516.4(SLC2A1):c.876T>G (p.Tyr292Ter)
|
|
|
NM_006516.4(SLC2A1):c.877T>C (p.Tyr293His)
|
rs2124448410
|
|
NM_006516.4(SLC2A1):c.880T>C (p.Ser294Pro)
|
|
|
NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met)
|
rs80359823
|
|
NM_006516.4(SLC2A1):c.898A>T (p.Lys300Ter)
|
rs2124448369
|
|
NM_006516.4(SLC2A1):c.939dup (p.Gly314fs)
|
rs886041590
|
|
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser)
|
rs121909739
|
|
NM_006516.4(SLC2A1):c.970_972+3del
|
rs1643459989
|
|
NM_006516.4(SLC2A1):c.971C>T (p.Ser324Leu)
|
rs796053253
|
|
NM_006516.4(SLC2A1):c.972+1G>C
|
rs80359843
|
|
NM_006516.4(SLC2A1):c.985G>C (p.Glu329Gln)
|
|
|
NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)
|
|
|
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp)
|
rs80359825
|
|
NM_006516.4(SLC2A1):c.997_1000del (p.Arg333fs)
|
|
|
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln)
|
rs1553155986
|
|