|
NM_001378452.1(ITPR1):c.6111T>C (p.Asn2037=)
|
rs6442905
|
0.96699
|
|
NM_001378452.1(ITPR1):c.7635T>C (p.Thr2545=)
|
rs711631
|
0.80127
|
|
NM_001378452.1(ITPR1):c.5169T>C (p.Thr1723=)
|
rs7613447
|
0.68442
|
|
NM_001378452.1(ITPR1):c.2007G>A (p.Lys669=)
|
rs2306875
|
0.68068
|
|
NM_001378452.1(ITPR1):c.7689G>A (p.Lys2563=)
|
rs901854
|
0.59379
|
|
NM_001378452.1(ITPR1):c.2658A>C (p.Leu886=)
|
rs2306877
|
0.26698
|
|
NM_001378452.1(ITPR1):c.7054C>T (p.Leu2352=)
|
rs2291862
|
0.24351
|
|
NM_001378452.1(ITPR1):c.3894C>T (p.Asn1298=)
|
rs182840163
|
0.00248
|
|
NM_001378452.1(ITPR1):c.4421C>T (p.Thr1474Ile)
|
rs188558398
|
0.00048
|
|
NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr)
|
rs767787371
|
0.00005
|
|
NM_001378452.1(ITPR1):c.3766G>A (p.Ala1256Thr)
|
rs768179678
|
0.00004
|
|
NM_001378452.1(ITPR1):c.3251C>T (p.Pro1084Leu)
|
rs1467772045
|
0.00002
|
|
NM_001378452.1(ITPR1):c.4541G>A (p.Arg1514His)
|
rs749048534
|
0.00002
|
|
NM_001378452.1(ITPR1):c.1516C>T (p.Arg506Trp)
|
rs2093873570
|
0.00001
|
|
NM_001378452.1(ITPR1):c.3026G>A (p.Arg1009Gln)
|
rs1574832115
|
0.00001
|
|
NM_001378452.1(ITPR1):c.3206C>T (p.Thr1069Ile)
|
rs747698039
|
0.00001
|
|
GRCh37/hg19 3p26.1(chr3:4669445-4859925)x1
|
|
|
|
NC_000003.12:g.(4480596_4480597)_(4793914_4793915)del
|
|
|
|
NM_001378452.1(ITPR1):c.1216A>G (p.Ile406Val)
|
|
|
|
NM_001378452.1(ITPR1):c.2540A>T (p.Asp847Val)
|
|
|
|
NM_001378452.1(ITPR1):c.2705C>T (p.Thr902Ile)
|
|
|
|
NM_001378452.1(ITPR1):c.2851T>C (p.Phe951Leu)
|
|
|
|
NM_001378452.1(ITPR1):c.3248C>T (p.Pro1083Leu)
|
rs121912425
|
|
|
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met)
|
rs397514535
|
|
|
NM_001378452.1(ITPR1):c.4754A>G (p.Asn1585Ser)
|
|
|
|
NM_001378452.1(ITPR1):c.5327G>T (p.Gly1776Val)
|
|
|
|
NM_001378452.1(ITPR1):c.5354G>C (p.Gly1785Ala)
|
rs200004069
|
|
|
NM_001378452.1(ITPR1):c.6720G>C (p.Glu2240Asp)
|
|
|
|
NM_001378452.1(ITPR1):c.6848T>G (p.Phe2283Cys)
|
|
|
|
NM_001378452.1(ITPR1):c.7345A>G (p.Ile2449Val)
|
|
|
|
NM_001378452.1(ITPR1):c.742_744del (p.Glu248del)
|
rs1559603328
|
|
|
NM_001378452.1(ITPR1):c.748T>C (p.Phe250Leu)
|
rs2125159710
|
|
|
NM_001378452.1(ITPR1):c.7636G>A (p.Val2546Met)
|
rs2106492941
|
|
|
NM_001378452.1(ITPR1):c.773A>T (p.Lys258Met)
|
|
|
|
NM_001378452.1(ITPR1):c.7784G>A (p.Gly2595Glu)
|
rs869312685
|
|
|
NM_001378452.1(ITPR1):c.7852A>C (p.Thr2618Pro)
|
|
|
|
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met)
|
rs797044955
|
|
|
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)
|
rs886039392
|
|
|
NM_001378452.1(ITPR1):c.951+35G>C
|
rs6442895
|
|
|
NM_014687.4(RUBCN):c.1553dup (p.Glu519fs)
|
|
|
|
NM_182760.4(SUMF1):c.1046G>C (p.Arg349Pro)
|
|
|
|
Single allele
|
|
|