NM_054012.4(ASS1):c.805G>A (p.Val269Met)
|
rs370595480
|
0.00007
|
NM_054012.4(ASS1):c.1004G>A (p.Arg335His)
|
rs555388438
|
0.00005
|
NM_054012.4(ASS1):c.911G>A (p.Arg304Gln)
|
rs771640767
|
0.00005
|
NM_014251.3(SLC25A13):c.1048G>A (p.Asp350Asn)
|
rs1312396424
|
0.00002
|
NM_014251.3(SLC25A13):c.1763G>A (p.Arg588Gln)
|
rs121908532
|
0.00001
|
NM_014251.3(SLC25A13):c.70-1G>A
|
rs962082210
|
0.00001
|
NM_054012.4(ASS1):c.1075T>C (p.Tyr359His)
|
rs1262020902
|
0.00001
|
NM_054012.4(ASS1):c.206T>C (p.Val69Ala)
|
rs771594651
|
0.00001
|
NM_054012.4(ASS1):c.689-2A>C
|
rs374586230
|
0.00001
|
NM_054012.4(ASS1):c.808G>C (p.Glu270Gln)
|
rs775163147
|
0.00001
|
NM_054012.4(ASS1):c.851C>T (p.Thr284Ile)
|
rs886039853
|
0.00001
|
NM_054012.4(ASS1):c.928A>C (p.Lys310Gln)
|
rs121908648
|
0.00001
|
NC_000009.11:g.(?_133340833)_(133342151_?)del
|
|
|
NC_000009.11:g.(?_133346211)_(133346912_?)del
|
|
|
NC_000009.11:g.(?_133346862)_(133346912_?)dup
|
|
|
NC_000009.12:g.(?_130489323)_(130489474_?)del
|
|
|
NM_014251.3(SLC25A13):c.1592G>A (p.Gly531Asp)
|
rs80338724
|
|
NM_014251.3(SLC25A13):c.1637C>T (p.Thr546Met)
|
rs548769905
|
|
NM_054012.4(ASS1):c.1087C>G (p.Arg363Gly)
|
rs121908640
|
|
NM_054012.4(ASS1):c.1130T>C (p.Met377Thr)
|
|
|
NM_054012.4(ASS1):c.1157_1158del (p.Thr386fs)
|
rs1846687897
|
|
NM_054012.4(ASS1):c.1194-19_1197dup
|
|
|
NM_054012.4(ASS1):c.214T>A (p.Phe72Ile)
|
|
|
NM_054012.4(ASS1):c.286C>A (p.Pro96Thr)
|
rs2131874080
|
|
NM_054012.4(ASS1):c.363+1G>A
|
|
|
NM_054012.4(ASS1):c.364-2A>T
|
rs774231051
|
|
NM_054012.4(ASS1):c.379C>G (p.Arg127Gly)
|
rs771794639
|
|
NM_054012.4(ASS1):c.380G>T (p.Arg127Leu)
|
rs201623252
|
|
NM_054012.4(ASS1):c.450_451del (p.Phe150fs)
|
rs786204648
|
|
NM_054012.4(ASS1):c.479T>C (p.Leu160Pro)
|
rs969835605
|
|
NM_054012.4(ASS1):c.495+1G>C
|
rs1845754405
|
|
NM_054012.4(ASS1):c.495+1G>T
|
rs1845754405
|
|
NM_054012.4(ASS1):c.495+2T>C
|
rs2131882609
|
|
NM_054012.4(ASS1):c.539G>T (p.Ser180Ile)
|
rs121908638
|
|
NM_054012.4(ASS1):c.688+1G>C
|
|
|
NM_054012.4(ASS1):c.688+2T>C
|
rs2118832404
|
|
NM_054012.4(ASS1):c.688+2del
|
rs2118832409
|
|
NM_054012.4(ASS1):c.774-2A>G
|
rs1588496214
|
|
NM_054012.4(ASS1):c.839-2A>T
|
rs2118864015
|
|
NM_054012.4(ASS1):c.95_105+4del
|
|
|
NM_054012.4(ASS1):c.971G>T (p.Gly324Val)
|
rs1554725034
|
|