NM_001004127.3(ALG11):c.44+324T>C
|
rs77505745
|
0.04331
|
NM_001004127.3(ALG11):c.44+154G>A
|
rs111871296
|
0.04085
|
NM_001004127.3(ALG11):c.933G>A (p.Pro311=)
|
rs61958802
|
0.03255
|
NM_001004127.3(ALG11):c.323A>G (p.Asn108Ser)
|
rs17480245
|
0.01560
|
NM_001004127.3(ALG11):c.173A>T (p.Asn58Ile)
|
rs150818619
|
0.00365
|
NM_001004127.3(ALG11):c.1032T>G (p.Gly344=)
|
rs143967675
|
0.00348
|
NM_001004127.3(ALG11):c.44+20G>T
|
rs200503510
|
0.00153
|
NM_021645.6(UTP14C):c.-486-6T>C
|
rs200751186
|
0.00078
|
NM_001004127.3(ALG11):c.1160A>C (p.Glu387Ala)
|
rs115524395
|
0.00044
|
NM_001004127.3(ALG11):c.1107T>C (p.Tyr369=)
|
rs146432805
|
0.00031
|
NM_001004127.3(ALG11):c.256T>G (p.Leu86Val)
|
rs182350911
|
0.00026
|
NM_001004127.3(ALG11):c.535G>A (p.Ala179Thr)
|
rs202195109
|
0.00021
|
NM_001004127.3(ALG11):c.1452A>G (p.Leu484=)
|
rs188332164
|
0.00019
|
NM_001004127.3(ALG11):c.406C>T (p.Arg136Cys)
|
rs150101415
|
0.00019
|
NM_001004127.3(ALG11):c.10G>A (p.Gly4Ser)
|
rs201560109
|
0.00012
|
NM_001004127.3(ALG11):c.874T>C (p.Leu292=)
|
rs533408732
|
0.00010
|
NM_001004127.3(ALG11):c.1037G>A (p.Arg346His)
|
rs144883776
|
0.00006
|
NM_001004127.3(ALG11):c.1269G>A (p.Lys423=)
|
rs369694921
|
0.00004
|
NM_001004127.3(ALG11):c.21C>G (p.Ser7Arg)
|
rs746897177
|
0.00004
|
NM_001004127.3(ALG11):c.325G>A (p.Gly109Ser)
|
rs765666509
|
0.00004
|
NM_001004127.3(ALG11):c.44+19G>A
|
rs748893269
|
0.00004
|
NM_001004127.3(ALG11):c.124A>G (p.Ile42Val)
|
rs201067230
|
0.00003
|
NM_001004127.3(ALG11):c.522T>G (p.Asp174Glu)
|
rs748117240
|
0.00002
|
NM_001004127.3(ALG11):c.497A>G (p.Gln166Arg)
|
rs756365610
|
0.00001
|
NM_001004127.3(ALG11):c.946C>G (p.Pro316Ala)
|
rs765431074
|
0.00001
|
NM_001004127.3(ALG11):c.987G>A (p.Lys329=)
|
rs921029114
|
0.00001
|
NC_000013.10:g.(?_52538988)_(52602746_?)dup
|
|
|
NC_000013.10:g.(?_52585403)_(52602726_?)del
|
|
|
NM_000053.4(ATP7B):c.-123_-119dupCGCCG
|
rs148013251
|
|
NM_001004127.3(ALG11):c.1191C>T (p.Asn397=)
|
rs141089354
|
|
NM_001004127.3(ALG11):c.1220G>T (p.Cys407Phe)
|
|
|
NM_001004127.3(ALG11):c.1273G>A (p.Asp425Asn)
|
|
|
NM_001004127.3(ALG11):c.1349C>T (p.Ala450Val)
|
rs757069433
|
|
NM_001004127.3(ALG11):c.1462G>T (p.Glu488Ter)
|
|
|
NM_001004127.3(ALG11):c.1476_1479del (p.Lys492fs)
|
|
|
NM_001004127.3(ALG11):c.187A>T (p.Met63Leu)
|
rs2140832522
|
|
NM_001004127.3(ALG11):c.18G>A (p.Arg6=)
|
rs1393492365
|
|
NM_001004127.3(ALG11):c.238A>G (p.Arg80Gly)
|
|
|
NM_001004127.3(ALG11):c.27C>A (p.Cys9Ter)
|
|
|
NM_001004127.3(ALG11):c.306C>T (p.Thr102=)
|
|
|
NM_001004127.3(ALG11):c.309C>T (p.Gly103=)
|
|
|
NM_001004127.3(ALG11):c.31T>G (p.Cys11Gly)
|
rs1444016944
|
|
NM_001004127.3(ALG11):c.364A>C (p.Ile122Leu)
|
|
|
NM_001004127.3(ALG11):c.402G>A (p.Arg134=)
|
rs2140838895
|
|
NM_001004127.3(ALG11):c.44+14C>G
|
|
|
NM_001004127.3(ALG11):c.445C>T (p.Leu149=)
|
|
|
NM_001004127.3(ALG11):c.494T>C (p.Met165Thr)
|
|
|
NM_001004127.3(ALG11):c.534C>T (p.Tyr178=)
|
|
|
NM_001004127.3(ALG11):c.5C>T (p.Ala2Val)
|
rs1363416785
|
|
NM_001004127.3(ALG11):c.612C>T (p.Thr204=)
|
|
|
NM_001004127.3(ALG11):c.636T>G (p.Asn212Lys)
|
rs1954216629
|
|
NM_001004127.3(ALG11):c.662C>G (p.Ala221Gly)
|
rs142637770
|
|
NM_001004127.3(ALG11):c.678T>C (p.Asn226=)
|
rs1593903157
|
|
NM_001004127.3(ALG11):c.6G>A (p.Ala2=)
|
|
|
NM_001004127.3(ALG11):c.778T>C (p.Trp260Arg)
|
|
|
NM_001004127.3(ALG11):c.823A>G (p.Thr275Ala)
|
rs1401571024
|
|
NM_001004127.3(ALG11):c.899G>A (p.Gly300Glu)
|
rs1593903383
|
|
NM_001004127.3(ALG11):c.937A>G (p.Lys313Glu)
|
rs2140840089
|
|
NM_021645.6(UTP14C):c.-486-14G>T
|
rs752238208
|
|
NM_021645.6(UTP14C):c.-486-7T>C
|
rs2140846961
|
|