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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 |
SF3B1 |
Chr2:198267484 |
Chr2:197402760 |
C.1873C>T |
P.R625C |
致病性 |
SF3B1 |
Chr2:198267373 |
Chr2:197402649 |
1984C>T |
i.H662Y |
致病性 |
SF3B1 |
chr2:19826737 |
Chr2:19742647 |
1986C>A |
i.H662Q |
致病性 |
SF3B1 |
Chr2:198267369 |
Chr2:197402645 |
1988C>T |
P.T663I |
致病性 |
SF3B1 |
chr2:19826736 |
Chr2:197402637 |
C.1996A>G |
666E |
致病性 |
SF3B1 |
Chr2:198267360 |
Chr2:197402636 |
C.1997A>C |
666T |
致病性 |
SF3B1 |
chr2:198267359 |
Chr2:197402635 |
.1998G>T |
k66N |
致病性 |
SF3B1 |
Chr2:198634 |
Chr2:197402110 |
2098A>G |
k700E |
致病性 |
SF3B1 |
Chr2:198266494 |
Chr2:197401770 |
2342A>G |
P.D781G |
致病性 |