NM_080628.3(TLDC2):c.*18-559G>A
|
rs8124728
|
0.05345
|
NM_080628.3(TLDC2):c.*18-218T>C
|
rs114791229
|
0.00502
|
NM_080628.3(TLDC2):c.*28T>C
|
rs45595032
|
0.00466
|
NM_080628.3(TLDC2):c.*18-938G>C
|
rs116489517
|
0.00406
|
NM_080628.3(TLDC2):c.*43G>A
|
rs115645414
|
0.00402
|
NM_080628.3(TLDC2):c.*18-170C>T
|
rs143588093
|
0.00244
|
NM_080628.3(TLDC2):c.*18-1G>T
|
rs138927042
|
0.00229
|
NM_080628.3(TLDC2):c.*18-435A>T
|
rs747128919
|
0.00139
|
NM_015474.4(SAMHD1):c.1797C>T (p.Asn599=)
|
rs35102927
|
0.00102
|
NM_015474.4(SAMHD1):c.1832G>A (p.Arg611Gln)
|
rs150713148
|
0.00039
|
NM_080628.3(TLDC2):c.*18-25A>G
|
rs147220022
|
0.00038
|
NM_015474.4(SAMHD1):c.1753G>A (p.Asp585Asn)
|
rs202165710
|
0.00013
|
NM_080628.3(TLDC2):c.*18-292C>T
|
rs886056646
|
0.00009
|
NM_015474.4(SAMHD1):c.1812C>A (p.Val604=)
|
rs139841806
|
0.00006
|
NM_080628.3(TLDC2):c.*18-50G>A
|
rs188941712
|
0.00006
|
NM_015474.4(SAMHD1):c.1848C>T (p.Ser616=)
|
rs372533307
|
0.00005
|
NM_080628.3(TLDC2):c.*239dup
|
rs762361576
|
0.00005
|
NM_080628.3(TLDC2):c.*18-433T>C
|
rs757372495
|
0.00004
|
NM_080628.3(TLDC2):c.*18-466G>A
|
rs886056645
|
0.00004
|
NM_080628.3(TLDC2):c.*18-801C>T
|
rs1030352932
|
0.00002
|
NM_015474.4(SAMHD1):c.1749T>C (p.Asp583=)
|
rs150658755
|
0.00001
|
NM_015474.4(SAMHD1):c.1752C>T (p.Gly584=)
|
rs753611896
|
0.00001
|
NM_015474.4(SAMHD1):c.1767A>G (p.Pro589=)
|
rs1449037659
|
0.00001
|
NM_015474.4(SAMHD1):c.1798G>A (p.Asp600Asn)
|
rs761596589
|
0.00001
|
NM_080628.3(TLDC2):c.*18-34C>G
|
rs570535296
|
0.00001
|
NM_080628.3(TLDC2):c.*18-578G>A
|
rs1414917474
|
0.00001
|
NC_000020.10:g.(?_35521335)_(35526967_?)dup
|
|
|
NC_000020.10:g.(?_35521335)_(35540975_?)dup
|
|
|
NC_000020.10:g.(?_35521335)_(35563612_?)dup
|
|
|
NC_000020.10:g.(?_35521335)_(35580046_?)del
|
|
|
NC_000020.11:g.(?_36892912)_(36898564_?)dup
|
|
|
NM_015474.4(SAMHD1):c.1757T>A (p.Val586Asp)
|
rs2148352252
|
|
NM_015474.4(SAMHD1):c.1758T>C (p.Val586=)
|
|
|
NM_015474.4(SAMHD1):c.1776A>G (p.Thr592=)
|
|
|
NM_015474.4(SAMHD1):c.1780C>T (p.Gln594Ter)
|
rs1990117713
|
|
NM_015474.4(SAMHD1):c.1782A>G (p.Gln594=)
|
|
|
NM_015474.4(SAMHD1):c.1785A>T (p.Lys595Asn)
|
rs1245985032
|
|
NM_015474.4(SAMHD1):c.1802G>A (p.Ser601Asn)
|
|
|
NM_015474.4(SAMHD1):c.1825C>T (p.Arg609Cys)
|
|
|
NM_015474.4(SAMHD1):c.1827C>G (p.Arg609=)
|
|
|
NM_015474.4(SAMHD1):c.1831C>G (p.Arg611Gly)
|
|
|
NM_015474.4(SAMHD1):c.1833A>G (p.Arg611=)
|
rs1601108388
|
|
NM_015474.4(SAMHD1):c.1839A>C (p.Ala613=)
|
|
|
NM_015474.4(SAMHD1):c.1841C>A (p.Ser614Tyr)
|
|
|
NM_015474.4(SAMHD1):c.1860T>C (p.Leu620=)
|
rs2148352120
|
|
NM_015474.4(SAMHD1):c.1862T>A (p.Phe621Tyr)
|
rs2148352114
|
|
NM_015474.4(SAMHD1):c.1872C>T (p.Asp624=)
|
|
|
NM_015474.4(SAMHD1):c.1876A>G (p.Met626Val)
|
|
|
NM_015474.4(SAMHD1):c.1877T>A (p.Met626Lys)
|
|
|
NM_080628.3(TLDC2):c.*18-641T>G
|
rs886056644
|
|
NM_080628.3(TLDC2):c.*18-647C>G
|
rs1990092783
|
|
NM_080628.3(TLDC2):c.*18-812A>G
|
rs1990087887
|
|
NM_080628.3(TLDC2):c.*230G>C
|
|
|
NM_080628.3(TLDC2):c.*231_*234del
|
rs2148352274
|
|
NM_080628.3(TLDC2):c.*233GA[3]
|
rs774995485
|
|
NM_080628.3(TLDC2):c.*237G>A
|
|
|
NM_080628.3(TLDC2):c.*238A>T
|
rs749714514
|
|
NM_080628.3(TLDC2):c.*244del
|
|
|