NM_006623.4(PHGDH):c.1468G>A (p.Val490Met)
|
rs121907987
|
0.00006
|
NM_006623.4(PHGDH):c.1129G>A (p.Gly377Ser)
|
rs267606948
|
0.00002
|
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter)
|
rs769256568
|
0.00001
|
NM_006623.4(PHGDH):c.1273G>A (p.Val425Met)
|
rs121907988
|
0.00001
|
NM_006623.4(PHGDH):c.22A>T (p.Lys8Ter)
|
rs1650717188
|
0.00001
|
NM_006623.4(PHGDH):c.357-1G>A
|
rs766427173
|
0.00001
|
NM_006623.4(PHGDH):c.487C>T (p.Arg163Trp)
|
rs772067625
|
0.00001
|
NM_006623.4(PHGDH):c.70C>T (p.Gln24Ter)
|
rs1418800829
|
0.00001
|
NC_000001.10:g.(?_120254636)_(120286673_?)del
|
|
|
NC_000001.10:g.(?_120254646)_(120254803_?)del
|
|
|
NC_000001.10:g.(?_120254646)_(120269745_?)del
|
|
|
NC_000001.10:g.(?_120254646)_(120283161_?)del
|
|
|
NC_000001.10:g.(?_120269454)_(120286663_?)del
|
|
|
NC_000001.10:g.(?_120277247)_(120277399_?)del
|
|
|
NC_000001.10:g.(?_120282989)_(120283161_?)del
|
|
|
NC_000001.10:g.(?_120286489)_(120286663_?)del
|
|
|
NM_006623.4(PHGDH):c.1063C>T (p.Gln355Ter)
|
rs979237677
|
|
NM_006623.4(PHGDH):c.1075C>T (p.Gln359Ter)
|
rs1652150288
|
|
NM_006623.4(PHGDH):c.1089del (p.Lys364fs)
|
|
|
NM_006623.4(PHGDH):c.1153C>T (p.Gln385Ter)
|
rs2101221217
|
|
NM_006623.4(PHGDH):c.117_118delinsCT (p.Glu39_Glu40delinsAspTer)
|
rs2101136632
|
|
NM_006623.4(PHGDH):c.1186del (p.Leu396fs)
|
rs1652224758
|
|
NM_006623.4(PHGDH):c.118G>T (p.Glu40Ter)
|
rs1650721954
|
|
NM_006623.4(PHGDH):c.1211T>A (p.Val404Asp)
|
|
|
NM_006623.4(PHGDH):c.1222dup (p.His408fs)
|
rs2101224520
|
|
NM_006623.4(PHGDH):c.1228_1232dup (p.Ala412fs)
|
rs1215699403
|
|
NM_006623.4(PHGDH):c.1258del (p.Glu420fs)
|
|
|
NM_006623.4(PHGDH):c.1282del (p.Ala428fs)
|
|
|
NM_006623.4(PHGDH):c.1286G>T (p.Gly429Val)
|
rs1652276195
|
|
NM_006623.4(PHGDH):c.1297C>T (p.Gln433Ter)
|
|
|
NM_006623.4(PHGDH):c.138+2dup
|
rs1650723432
|
|
NM_006623.4(PHGDH):c.1394del (p.Leu465fs)
|
|
|
NM_006623.4(PHGDH):c.1429dup (p.Met477fs)
|
|
|
NM_006623.4(PHGDH):c.1485C>G (p.Tyr495Ter)
|
|
|
NM_006623.4(PHGDH):c.1499del (p.Val500fs)
|
|
|
NM_006623.4(PHGDH):c.1518G>A (p.Trp506Ter)
|
|
|
NM_006623.4(PHGDH):c.171del (p.Lys58fs)
|
rs750368565
|
|
NM_006623.4(PHGDH):c.1A>C (p.Met1Leu)
|
|
|
NM_006623.4(PHGDH):c.1A>G (p.Met1Val)
|
rs1331155296
|
|
NM_006623.4(PHGDH):c.211C>T (p.Gln71Ter)
|
|
|
NM_006623.4(PHGDH):c.218_219insTT (p.Gly74fs)
|
|
|
NM_006623.4(PHGDH):c.271_274del (p.Lys91fs)
|
rs2101155246
|
|
NM_006623.4(PHGDH):c.290+2T>C
|
rs886041874
|
|
NM_006623.4(PHGDH):c.2T>C (p.Met1Thr)
|
rs951372478
|
|
NM_006623.4(PHGDH):c.304A>T (p.Asn102Tyr)
|
|
|
NM_006623.4(PHGDH):c.348C>A (p.Cys116Ter)
|
rs2101160478
|
|
NM_006623.4(PHGDH):c.358C>T (p.Gln120Ter)
|
|
|
NM_006623.4(PHGDH):c.363del (p.Gln123fs)
|
rs781273456
|
|
NM_006623.4(PHGDH):c.385A>T (p.Lys129Ter)
|
|
|
NM_006623.4(PHGDH):c.398G>A (p.Trp133Ter)
|
|
|
NM_006623.4(PHGDH):c.399G>A (p.Trp133Ter)
|
|
|
NM_006623.4(PHGDH):c.403C>T (p.Arg135Trp)
|
rs267606949
|
|
NM_006623.4(PHGDH):c.418G>A (p.Gly140Arg)
|
rs587777770
|
|
NM_006623.4(PHGDH):c.476_477del (p.Glu159fs)
|
|
|
NM_006623.4(PHGDH):c.483dup (p.Thr162fs)
|
|
|
NM_006623.4(PHGDH):c.488G>A (p.Arg163Gln)
|
rs587777483
|
|
NM_006623.4(PHGDH):c.509del (p.Lys170fs)
|
|
|
NM_006623.4(PHGDH):c.578del (p.Leu193fs)
|
|
|
NM_006623.4(PHGDH):c.661_662del (p.Thr221fs)
|
rs1651881638
|
|
NM_006623.4(PHGDH):c.665_666dup (p.Ala223fs)
|
|
|
NM_006623.4(PHGDH):c.670C>T (p.Gln224Ter)
|
rs2101198087
|
|
NM_006623.4(PHGDH):c.68T>A (p.Leu23Ter)
|
|
|
NM_006623.4(PHGDH):c.709G>T (p.Gly237Ter)
|
rs1341545186
|
|
NM_006623.4(PHGDH):c.714del (p.Ile239fs)
|
rs730882181
|
|
NM_006623.4(PHGDH):c.765del (p.Ala257fs)
|
|
|
NM_006623.4(PHGDH):c.775del (p.Leu259fs)
|
|
|
NM_006623.4(PHGDH):c.781G>A (p.Val261Met)
|
rs267606947
|
|
NM_006623.4(PHGDH):c.793G>A (p.Glu265Lys)
|
rs587777774
|
|
NM_006623.4(PHGDH):c.856G>C (p.Ala286Pro)
|
rs587777775
|
|
NM_006623.4(PHGDH):c.859del (p.Ser287fs)
|
|
|
NM_006623.4(PHGDH):c.874C>T (p.Gln292Ter)
|
rs749134845
|
|
NM_006623.4(PHGDH):c.889G>T (p.Glu297Ter)
|
rs1489498331
|
|
NM_006623.4(PHGDH):c.889del (p.Glu297fs)
|
|
|
NM_006623.4(PHGDH):c.901del (p.Val301fs)
|
rs1571013274
|
|
NM_006623.4(PHGDH):c.919del (p.Met306_Val307insTer)
|
rs2101205361
|
|
NM_006623.4(PHGDH):c.94_110del (p.Glu32fs)
|
|
|
NM_006623.4(PHGDH):c.958_968del (p.Ala320fs)
|
rs1398758559
|
|
NM_006623.4(PHGDH):c.992del (p.Pro331fs)
|
|
|
NM_006623.4(PHGDH):c.996G>A (p.Trp332Ter)
|
rs2101216259
|
|