NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)
|
rs201587138
|
0.00069
|
NM_001384474.1(LOXHD1):c.3061+1G>A
|
rs537227442
|
0.00006
|
NM_001384474.1(LOXHD1):c.4376-2A>G
|
rs886043616
|
0.00006
|
NM_001384474.1(LOXHD1):c.6539G>A (p.Gly2180Glu)
|
rs763915229
|
0.00006
|
NM_001384474.1(LOXHD1):c.5224C>T (p.Arg1742Cys)
|
rs561122654
|
0.00004
|
NM_001384474.1(LOXHD1):c.4212+5G>A
|
rs752553552
|
0.00003
|
NM_001384474.1(LOXHD1):c.442A>T (p.Lys148Ter)
|
rs886044666
|
0.00003
|
NM_001384474.1(LOXHD1):c.71del (p.Leu24fs)
|
rs775267638
|
0.00003
|
NM_001384474.1(LOXHD1):c.760-2del
|
rs770408532
|
0.00003
|
NM_001384474.1(LOXHD1):c.4212+1G>A
|
rs889110926
|
0.00002
|
NM_001384474.1(LOXHD1):c.246-2A>G
|
rs763062406
|
0.00001
|
NM_001384474.1(LOXHD1):c.4531-2A>G
|
rs951333133
|
0.00001
|
NM_001384474.1(LOXHD1):c.4794_4795insTC (p.Ile1599fs)
|
rs1598914701
|
0.00001
|
NM_001384474.1(LOXHD1):c.4936C>T (p.Arg1646Ter)
|
rs960741408
|
0.00001
|
NM_001384474.1(LOXHD1):c.5002C>T (p.Arg1668Ter)
|
rs961865375
|
0.00001
|
NM_001384474.1(LOXHD1):c.5085+1G>T
|
rs1418245706
|
0.00001
|
NM_001384474.1(LOXHD1):c.6224G>A (p.Gly2075Glu)
|
rs1442825433
|
0.00001
|
NM_001384474.1(LOXHD1):c.1190G>A (p.Trp397Ter)
|
|
|
NM_001384474.1(LOXHD1):c.1217T>A (p.Leu406Ter)
|
|
|
NM_001384474.1(LOXHD1):c.1286del (p.Leu429fs)
|
rs2144243196
|
|
NM_001384474.1(LOXHD1):c.1357A>T (p.Lys453Ter)
|
|
|
NM_001384474.1(LOXHD1):c.1483A>T (p.Lys495Ter)
|
|
|
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs)
|
rs1555683951
|
|
NM_001384474.1(LOXHD1):c.1798G>T (p.Glu600Ter)
|
|
|
NM_001384474.1(LOXHD1):c.1933C>T (p.Gln645Ter)
|
|
|
NM_001384474.1(LOXHD1):c.205G>T (p.Gly69Ter)
|
|
|
NM_001384474.1(LOXHD1):c.2395G>T (p.Glu799Ter)
|
|
|
NM_001384474.1(LOXHD1):c.2598+1G>A
|
|
|
NM_001384474.1(LOXHD1):c.2773C>T (p.Gln925Ter)
|
rs2037495535
|
|
NM_001384474.1(LOXHD1):c.2842del (p.Glu948fs)
|
rs2144013371
|
|
NM_001384474.1(LOXHD1):c.3061+1G>T
|
rs537227442
|
|
NM_001384474.1(LOXHD1):c.3350+1G>A
|
rs1301706601
|
|
NM_001384474.1(LOXHD1):c.3401_3404dup (p.Ser1136fs)
|
rs2143824066
|
|
NM_001384474.1(LOXHD1):c.3544A>T (p.Lys1182Ter)
|
|
|
NM_001384474.1(LOXHD1):c.3663del (p.Phe1221fs)
|
rs2144371589
|
|
NM_001384474.1(LOXHD1):c.3727C>T (p.Arg1243Trp)
|
|
|
NM_001384474.1(LOXHD1):c.3892C>T (p.Gln1298Ter)
|
|
|
NM_001384474.1(LOXHD1):c.3999C>A (p.Cys1333Ter)
|
|
|
NM_001384474.1(LOXHD1):c.4095+1G>A
|
rs1280052681
|
|
NM_001384474.1(LOXHD1):c.4096-1G>C
|
rs749861944
|
|
NM_001384474.1(LOXHD1):c.4375+1G>T
|
rs2036150181
|
|
NM_001384474.1(LOXHD1):c.4582A>T (p.Lys1528Ter)
|
|
|
NM_001384474.1(LOXHD1):c.464G>A (p.Trp155Ter)
|
|
|
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter)
|
rs75949023
|
|
NM_001384474.1(LOXHD1):c.4738A>T (p.Lys1580Ter)
|
|
|
NM_001384474.1(LOXHD1):c.4740+1G>A
|
rs2144167172
|
|
NM_001384474.1(LOXHD1):c.4877-1G>A
|
rs1598909650
|
|
NM_001384474.1(LOXHD1):c.4940C>A (p.Ala1647Asp)
|
|
|
NM_001384474.1(LOXHD1):c.5330del (p.Asn1777fs)
|
rs776345911
|
|
NM_001384474.1(LOXHD1):c.5383_5384insCACACAC (p.Asp1795fs)
|
|
|
NM_001384474.1(LOXHD1):c.5413C>T (p.Gln1805Ter)
|
|
|
NM_001384474.1(LOXHD1):c.5458_5459del (p.Thr1820fs)
|
|
|
NM_001384474.1(LOXHD1):c.5527A>T (p.Lys1843Ter)
|
|
|
NM_001384474.1(LOXHD1):c.5619T>A (p.Cys1873Ter)
|
|
|
NM_001384474.1(LOXHD1):c.5668_5669del (p.Ala1890fs)
|
|
|
NM_001384474.1(LOXHD1):c.5988del (p.Gln1997fs)
|
|
|
NM_001384474.1(LOXHD1):c.5992_5998delinsCA (p.Thr1998fs)
|
|
|
NM_001384474.1(LOXHD1):c.6071del (p.Thr2024fs)
|
rs2032939837
|
|
NM_001384474.1(LOXHD1):c.6106_6107insA (p.Leu2036fs)
|
|
|
NM_001384474.1(LOXHD1):c.6182+1G>T
|
rs200375658
|
|
NM_001384474.1(LOXHD1):c.6342-1G>A
|
|
|
NM_001384474.1(LOXHD1):c.6492T>G (p.Tyr2164Ter)
|
rs1434725624
|
|
NM_001384474.1(LOXHD1):c.963T>A (p.Tyr321Ter)
|
|
|