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变换信息
Gene网路 |
坐标表(GRCH37) |
坐标表(GRCH38) |
核极 |
蛋白质 |
传译 |
PTPN11 |
Chr12:112926270 |
Chr12:11248846 |
1403C>T |
P.T.468M |
致病性 |
PTPN11 |
Chr12:112926884 |
Chr1211489080 |
1504T>C |
ser502Pro |
致病性 |
PTPN11 |
Chr12:112926885 |
Chr1211489081 |
1505C>T |
P.S.502L |
致病性 |
PTPN11 |
Chr12:112926887 |
Chr12114890 |
1507G>A |
p.G503R |
致病性 |
PTPN11 |
Chr12:11292688 |
Chr1211489084 |
1508G>C |
P.G503A |
致病性 |
PTPN11 |
Chr12:11288163 |
Chr12:112450359 |
179G>T |
P.Gly60val |
致病性 |
PTPN11 |
Chr12:11288166 |
Chr12:112450362 |
.182A>T |
sp61val |
致病性 |
PTPN11 |
Chr12:11288889 |
Chr12:112450385 |
205G>A |
P.Glu69Lys |
致病性 |
PTPN11 |
Chr12:11288198 |
Chr12:112450394 |
214G>A |
P.A72T |
致病性 |
PTPN11 |
Chr12:11288199 |
Chr12:112450395 |
215C>T |
P.Ala72val |
致病性 |
PTPN11 |
Chr12:112888202 |
Chr12:112450398 |
218C>T |
P.T73I |
致病性 |
PTPN11 |
Chr12:112888211 |
Chr12:112450407 |
227A>G |
P.E76G |
致病性 |