NM_000317.3(PTS):c.317C>T (p.Thr106Met)
|
rs200712908
|
0.00010
|
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys)
|
rs762894736
|
0.00003
|
NM_000317.3(PTS):c.370G>T (p.Val124Leu)
|
rs150726932
|
0.00003
|
NM_000317.3(PTS):c.84-291A>G
|
rs1480995114
|
0.00003
|
NM_000317.3(PTS):c.400G>A (p.Glu134Lys)
|
rs779681799
|
0.00002
|
NM_000317.3(PTS):c.84-3C>G
|
rs1230781262
|
0.00002
|
NM_000317.3(PTS):c.155A>G (p.Asn52Ser)
|
rs104894275
|
0.00001
|
NM_000317.3(PTS):c.186+1G>T
|
rs1256819927
|
0.00001
|
NM_000317.3(PTS):c.187A>G (p.Ile63Val)
|
rs778053171
|
0.00001
|
NM_000317.3(PTS):c.200C>T (p.Thr67Met)
|
rs370340361
|
0.00001
|
NM_000317.3(PTS):c.216T>A (p.Asn72Lys)
|
rs200279736
|
0.00001
|
NM_000317.3(PTS):c.260C>T (p.Pro87Leu)
|
rs765406631
|
0.00001
|
NM_000317.3(PTS):c.286G>A (p.Asp96Asn)
|
rs104894280
|
0.00001
|
NM_000317.3(PTS):c.297C>A (p.Tyr99Ter)
|
rs145882709
|
0.00001
|
NM_000317.3(PTS):c.367C>T (p.Pro123Ser)
|
rs141163668
|
0.00001
|
NC_000011.10:g.(?_112226434)_(112226536_?)del
|
|
|
NC_000011.10:g.(?_112226444)_(112233555_?)del
|
|
|
NC_000011.9:g.(?_112096088)_(112105696_?)del
|
|
|
NC_000011.9:g.(?_112097157)_(112104288_?)del
|
|
|
NC_000011.9:g.(?_112103876)_(112104288_?)del
|
|
|
NM_000317.3(PTS):c.107del (p.Asn36fs)
|
rs1859894340
|
|
NM_000317.3(PTS):c.108C>G (p.Asn36Lys)
|
rs1449216377
|
|
NM_000317.3(PTS):c.118_121del (p.Phe40fs)
|
rs747260038
|
|
NM_000317.3(PTS):c.159T>G (p.Tyr53Ter)
|
rs781197929
|
|
NM_000317.3(PTS):c.163+696_163+750del
|
rs1555198165
|
|
NM_000317.3(PTS):c.164-7T>A
|
rs1555198232
|
|
NM_000317.3(PTS):c.166G>A (p.Val56Met)
|
rs104894277
|
|
NM_000317.3(PTS):c.166GTG[1] (p.Val57del)
|
rs770387277
|
|
NM_000317.3(PTS):c.174_175del (p.Val59fs)
|
rs2135408968
|
|
NM_000317.3(PTS):c.186+1G>A
|
|
|
NM_000317.3(PTS):c.189dup (p.Asp64Ter)
|
|
|
NM_000317.3(PTS):c.200C>A (p.Thr67Lys)
|
rs370340361
|
|
NM_000317.3(PTS):c.236_239del (p.Tyr79fs)
|
rs1399026048
|
|
NM_000317.3(PTS):c.238A>G (p.Met80Val)
|
rs1057517810
|
|
NM_000317.3(PTS):c.243G>A (p.Glu81=)
|
rs2135409211
|
|
NM_000317.3(PTS):c.245A>G (p.Glu82Gly)
|
|
|
NM_000317.3(PTS):c.259C>T (p.Pro87Ser)
|
rs104894276
|
|
NM_000317.3(PTS):c.272A>G (p.Lys91Arg)
|
rs761285716
|
|
NM_000317.3(PTS):c.276T>A (p.Asn92Lys)
|
|
|
NM_000317.3(PTS):c.292_293insATACTTTG (p.Pro98fs)
|
|
|
NM_000317.3(PTS):c.296A>G (p.Tyr99Cys)
|
rs1555198458
|
|
NM_000317.3(PTS):c.308T>C (p.Val103Ala)
|
rs1555198459
|
|
NM_000317.3(PTS):c.314+2T>C
|
rs2135410340
|
|
NM_000317.3(PTS):c.315-1G>A
|
|
|
NM_000317.3(PTS):c.315-2A>G
|
rs1555198483
|
|
NM_000317.3(PTS):c.322G>T (p.Glu108Ter)
|
|
|
NM_000317.3(PTS):c.331G>A (p.Ala111Thr)
|
rs1367077861
|
|
NM_000317.3(PTS):c.342C>G (p.Ile114Met)
|
rs17851590
|
|
NM_000317.3(PTS):c.370G>C (p.Val124Leu)
|
|
|
NM_000317.3(PTS):c.379C>T (p.Leu127Phe)
|
rs1859971515
|
|
NM_000317.3(PTS):c.384T>A (p.Tyr128Ter)
|
rs1859971691
|
|
NM_000317.3(PTS):c.385A>G (p.Lys129Glu)
|
|
|
NM_000317.3(PTS):c.393del (p.Val132fs)
|
rs780332520
|
|
NM_000317.3(PTS):c.399C>A (p.Tyr133Ter)
|
rs199603175
|
|
NM_000317.3(PTS):c.400G>T (p.Glu134Ter)
|
rs779681799
|
|
NM_000317.3(PTS):c.407A>T (p.Asp136Val)
|
rs1859972447
|
|
NM_000317.3(PTS):c.84-323A>T
|
rs794726657
|
|
NM_000317.3(PTS):c.85A>T (p.Lys29Ter)
|
|
|