NM_001291867.2(NHS):c.1714C>T (p.Pro572Ser)
|
rs150688899
|
0.06491
|
NM_001291867.2(NHS):c.211C>T (p.Pro71Ser)
|
rs398124605
|
0.03116
|
NC_000023.11:g.17375188C>T
|
rs567948106
|
0.03100
|
NM_001291867.2(NHS):c.566-177A>G
|
rs17312492
|
0.01914
|
NM_001291867.2(NHS):c.4349+90A>G
|
rs17246582
|
0.01743
|
NM_001291867.2(NHS):c.4350-75T>C
|
rs141556532
|
0.01397
|
NM_001291867.2(NHS):c.4223-47C>T
|
rs41297287
|
0.00953
|
NC_000023.11:g.17375179G>T
|
rs374751380
|
0.00934
|
NM_001291867.2(NHS):c.566-52165C>T
|
rs143065064
|
0.00445
|
NM_001291867.2(NHS):c.828G>A (p.Glu276=)
|
rs147497359
|
0.00096
|
NM_001291867.2(NHS):c.2330T>C (p.Phe777Ser)
|
rs143081492
|
0.00089
|
NM_001291867.2(NHS):c.3929G>T (p.Gly1310Val)
|
rs41304731
|
0.00074
|
NM_001291867.2(NHS):c.4436G>A (p.Ser1479Asn)
|
rs145200841
|
0.00056
|
NM_001291867.2(NHS):c.4666T>A (p.Ser1556Thr)
|
rs2071848
|
0.00055
|
NM_001291867.2(NHS):c.666C>T (p.Cys222=)
|
rs138104885
|
0.00055
|
NM_001291867.2(NHS):c.1596G>A (p.Glu532=)
|
rs146437542
|
0.00044
|
NM_001291867.2(NHS):c.1748G>A (p.Arg583His)
|
rs143289369
|
0.00028
|
NM_001291867.2(NHS):c.513C>T (p.Leu171=)
|
rs398124610
|
0.00028
|
NM_001291867.2(NHS):c.322G>A (p.Glu108Lys)
|
rs773995388
|
0.00026
|
NM_001291867.2(NHS):c.4937C>T (p.Ser1646Phe)
|
rs374462247
|
0.00020
|
NM_001291867.2(NHS):c.739C>T (p.Arg247Cys)
|
rs369785842
|
0.00016
|
NM_001291867.2(NHS):c.1143C>T (p.Cys381=)
|
rs727504042
|
0.00012
|
NM_001291867.2(NHS):c.177C>A (p.Arg59=)
|
rs1443874473
|
0.00012
|
NM_001291867.2(NHS):c.566-5T>C
|
rs760065199
|
0.00011
|
NM_001291867.2(NHS):c.2905G>A (p.Ala969Thr)
|
rs762685365
|
0.00009
|
NM_001291867.2(NHS):c.3408G>A (p.Thr1136=)
|
rs370811549
|
0.00009
|
NM_001291867.2(NHS):c.966G>A (p.Pro322=)
|
rs745327335
|
0.00005
|
NM_001291867.2(NHS):c.2663T>C (p.Met888Thr)
|
rs200321491
|
0.00004
|
NM_001291867.2(NHS):c.1656G>A (p.Pro552=)
|
rs763470722
|
0.00001
|
NM_001291867.2(NHS):c.1764T>G (p.Ala588=)
|
rs1601857373
|
0.00001
|
NM_001291867.2(NHS):c.1068C>T (p.Ala356=)
|
|
|
NM_001291867.2(NHS):c.1089T>C (p.Ile363=)
|
|
|
NM_001291867.2(NHS):c.1108+4T>C
|
|
|
NM_001291867.2(NHS):c.1281T>C (p.Ile427=)
|
rs1601856809
|
|
NM_001291867.2(NHS):c.1317T>C (p.Asn439=)
|
|
|
NM_001291867.2(NHS):c.1407T>G (p.Gly469=)
|
|
|
NM_001291867.2(NHS):c.1471G>A (p.Asp491Asn)
|
|
|
NM_001291867.2(NHS):c.1655C>T (p.Pro552Leu)
|
|
|
NM_001291867.2(NHS):c.1995G>A (p.Ser665=)
|
|
|
NM_001291867.2(NHS):c.2125C>T (p.Leu709=)
|
rs1601857742
|
|
NM_001291867.2(NHS):c.310_348del (p.Pro104_Ala116del)
|
|
|
NM_001291867.2(NHS):c.333GGC[7] (p.Ala117dup)
|
rs587780401
|
|
NM_001291867.2(NHS):c.3532A>G (p.Ser1178Gly)
|
|
|
NM_001291867.2(NHS):c.364C>T (p.Leu122=)
|
rs1601678491
|
|
NM_001291867.2(NHS):c.4223-99TGTT[6]
|
rs10643465
|
|
NM_001291867.2(NHS):c.4223-99TGTT[9]
|
rs10643465
|
|
NM_001291867.2(NHS):c.4223-9T>C
|
rs1601860383
|
|
NM_001291867.2(NHS):c.4455T>G (p.Thr1485=)
|
|
|
NM_001291867.2(NHS):c.4581C>T (p.Arg1527=)
|
|
|
NM_001291867.2(NHS):c.4749T>G (p.Val1583=)
|
rs2147148818
|
|
NM_001291867.2(NHS):c.566-52074G>T
|
rs113112459
|
|
NM_001291867.2(NHS):c.566-52082C>T
|
|
|
NM_001291867.2(NHS):c.718+2_718+3dup
|
|
|
NM_001291867.2(NHS):c.853-299GGAA[2]
|
rs200275047
|
|
NM_001291867.2(NHS):c.961A>C (p.Arg321=)
|
|
|