NM_133642.5(LARGE1):c.435C>T (p.Ala145=)
|
rs86487
|
0.39804
|
NM_133642.5(LARGE1):c.2100C>T (p.Asn700=)
|
rs17722172
|
0.04733
|
NM_133642.5(LARGE1):c.1731-24T>C
|
rs73399532
|
0.03540
|
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=)
|
rs34292743
|
0.02604
|
NM_133642.5(LARGE1):c.576C>T (p.Pro192=)
|
rs36002910
|
0.02334
|
NM_133642.5(LARGE1):c.1827A>G (p.Ser609=)
|
rs11913417
|
0.02196
|
NM_133642.5(LARGE1):c.309C>T (p.Ser103=)
|
rs59349720
|
0.01920
|
NM_133642.5(LARGE1):c.1949G>A (p.Arg650Gln)
|
rs73399520
|
0.01853
|
NM_133642.5(LARGE1):c.165G>C (p.Thr55=)
|
rs63446460
|
0.01465
|
NM_133642.5(LARGE1):c.552G>A (p.Thr184=)
|
rs8142483
|
0.00887
|
NM_133642.5(LARGE1):c.2073+36C>T
|
rs41302579
|
0.00883
|
NM_133642.5(LARGE1):c.1451+38C>T
|
rs80016718
|
0.00792
|
NM_133642.5(LARGE1):c.-31G>A
|
rs117199378
|
0.00694
|
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His)
|
rs1046166
|
0.00617
|
NM_133642.5(LARGE1):c.788-29A>G
|
rs147579402
|
0.00569
|
NM_133642.5(LARGE1):c.892+50C>T
|
rs62225294
|
0.00471
|
NM_133642.5(LARGE1):c.163A>G (p.Thr55Ala)
|
rs34642406
|
0.00430
|
NM_133642.5(LARGE1):c.1788G>A (p.Ala596=)
|
rs74550830
|
0.00224
|
NM_133642.5(LARGE1):c.-83+63202T>G
|
rs147343461
|
0.00215
|
NM_133642.5(LARGE1):c.-83+63246C>T
|
rs142710671
|
0.00158
|
NM_133642.5(LARGE1):c.1008T>C (p.Asp336=)
|
rs115076367
|
0.00140
|
NM_133642.5(LARGE1):c.408+8G>A
|
rs141818070
|
0.00103
|
NM_133642.5(LARGE1):c.409-19C>T
|
rs374692757
|
0.00041
|
NM_133642.5(LARGE1):c.492-11A>G
|
rs142978441
|
0.00023
|
NM_133642.5(LARGE1):c.409-21C>T
|
rs149859888
|
0.00021
|
NM_133642.5(LARGE1):c.2004G>A (p.Pro668=)
|
rs368231947
|
0.00017
|
NM_133642.5(LARGE1):c.1599C>T (p.Ile533=)
|
rs12627793
|
0.00012
|
NM_133642.5(LARGE1):c.1791C>T (p.Phe597=)
|
rs369773678
|
0.00010
|
NM_133642.5(LARGE1):c.-82-19T>C
|
rs768214949
|
0.00004
|
NM_133642.5(LARGE1):c.703C>T (p.Leu235=)
|
rs376057149
|
0.00004
|
NM_133642.5(LARGE1):c.81T>A (p.Ile27=)
|
rs145861048
|
0.00004
|
NM_133642.5(LARGE1):c.-83+63195C>A
|
rs1326085467
|
0.00002
|
NM_133642.5(LARGE1):c.408+7G>A
|
rs371246157
|
0.00002
|
NM_133642.5(LARGE1):c.492-8C>T
|
rs764180554
|
0.00002
|
NM_133642.5(LARGE1):c.1451+12G>A
|
rs1029660389
|
0.00001
|
NM_133642.5(LARGE1):c.1611G>A (p.Glu537=)
|
rs372629986
|
0.00001
|
NM_133642.5(LARGE1):c.1614C>T (p.Gly538=)
|
rs749791648
|
0.00001
|
NM_133642.5(LARGE1):c.333C>T (p.Ser111=)
|
rs746767821
|
0.00001
|
NM_133642.5(LARGE1):c.34T>C (p.Leu12=)
|
rs1320102818
|
0.00001
|
NM_133642.5(LARGE1):c.717C>T (p.Ile239=)
|
rs761927446
|
0.00001
|
NM_133642.5(LARGE1):c.787+14A>T
|
rs776201139
|
0.00001
|
NM_133642.5(LARGE1):c.-82-16_-82-15del
|
rs1556032157
|
|
NM_133642.5(LARGE1):c.-83+63247G>A
|
rs917246646
|
|
NM_133642.5(LARGE1):c.1452-28C>T
|
rs76647066
|
|
NM_133642.5(LARGE1):c.16A>C (p.Arg6=)
|
rs886038552
|
|
NM_133642.5(LARGE1):c.1776G>T (p.Met592Ile)
|
rs576967464
|
|
NM_133642.5(LARGE1):c.2073+12G>T
|
rs377566674
|
|