|
NM_014845.5(FIG4):c.*14C>T
|
rs114136062
|
|
NM_014845.5(FIG4):c.*7C>T
|
rs113946190
|
|
NM_014845.5(FIG4):c.1043_1050del (p.Asp348fs)
|
rs1368013631
|
|
NM_014845.5(FIG4):c.1090A>T (p.Met364Leu)
|
rs2295837
|
|
NM_014845.5(FIG4):c.1147_1148delinsT (p.Glu382_Lys383insTer)
|
rs1583695317
|
|
NM_014845.5(FIG4):c.1149_1150delinsT (p.Lys383fs)
|
rs1583695328
|
|
NM_014845.5(FIG4):c.1239_1241inv (p.Tyr413_Ile414delinsTer)
|
|
|
NM_014845.5(FIG4):c.1242T>C (p.Ile414=)
|
rs61729087
|
|
NM_014845.5(FIG4):c.1271+5A>G
|
rs374583399
|
|
NM_014845.5(FIG4):c.1272-10C>G
|
rs201293291
|
|
NM_014845.5(FIG4):c.1305G>C (p.Val435=)
|
rs145227623
|
|
NM_014845.5(FIG4):c.1373dup (p.Leu458fs)
|
rs770043095
|
|
NM_014845.5(FIG4):c.1584-8T>A
|
rs199522051
|
|
NM_014845.5(FIG4):c.1675A>T (p.Lys559Ter)
|
rs776090013
|
|
NM_014845.5(FIG4):c.1809G>A (p.Gly603=)
|
rs148280593
|
|
NM_014845.5(FIG4):c.1835C>T (p.Thr612Ile)
|
rs780595685
|
|
NM_014845.5(FIG4):c.1863C>A (p.Thr621=)
|
rs201744761
|
|
NM_014845.5(FIG4):c.1879A>G (p.Thr627Ala)
|
rs762859144
|
|
NM_014845.5(FIG4):c.1880C>A (p.Thr627Lys)
|
rs770831509
|
|
NM_014845.5(FIG4):c.1940A>G (p.Tyr647Cys)
|
rs150301327
|
|
NM_014845.5(FIG4):c.1948+3A>G
|
rs10499054
|
|
NM_014845.5(FIG4):c.1949-15C>T
|
rs778444771
|
|
NM_014845.5(FIG4):c.1961T>C (p.Val654Ala)
|
rs9885672
|
|
NM_014845.5(FIG4):c.2097-10C>G
|
rs142482745
|
|
NM_014845.5(FIG4):c.2154A>G (p.Pro718=)
|
rs201138266
|
|
NM_014845.5(FIG4):c.2459+7T>G
|
rs575271308
|
|
NM_014845.5(FIG4):c.2460-8A>G
|
rs201965891
|
|
NM_014845.5(FIG4):c.2467C>T (p.Gln823Ter)
|
rs745790694
|
|
NM_014845.5(FIG4):c.2547-5T>G
|
rs200267243
|
|
NM_014845.5(FIG4):c.2559G>A (p.Ser853=)
|
rs1127771
|
|
NM_014845.5(FIG4):c.2695C>T (p.Arg899Ter)
|
rs750069994
|
|
NM_014845.5(FIG4):c.27C>T (p.Ile9=)
|
rs141040807
|
|
NM_014845.5(FIG4):c.290-2A>T
|
rs587777715
|
|
NM_014845.5(FIG4):c.294del (p.Phe98fs)
|
rs1562648373
|
|
NM_014845.5(FIG4):c.300G>A (p.Arg100=)
|
rs368831195
|
|
NM_014845.5(FIG4):c.33G>C (p.Ser11=)
|
rs527523781
|
|
NM_014845.5(FIG4):c.446+9G>A
|
rs190287033
|
|
NM_014845.5(FIG4):c.447-16G>T
|
rs200890189
|
|
NM_014845.5(FIG4):c.647-18C>A
|
rs2273752
|
|
NM_014845.5(FIG4):c.66+10C>T
|
rs200063827
|
|
NM_014845.5(FIG4):c.67-7T>C
|
rs56378532
|
|
NM_014845.5(FIG4):c.759del (p.Phe254fs)
|
rs764717219
|
|
NM_014845.5(FIG4):c.790_793delinsTTCCAAGAGCTGTT (p.Gly264fs)
|
rs1583669418
|
|
NM_014845.5(FIG4):c.808A>G (p.Thr270Ala)
|
rs61729092
|
|
NM_014845.5(FIG4):c.877-2A>C
|
rs143956557
|
|
NM_014845.5(FIG4):c.918C>T (p.Cys306=)
|
rs369159531
|
|
NM_014845.6(FIG4):c.105A>G (p.Lys35=)
|
|
|
NM_014845.6(FIG4):c.1073C>G (p.Ala358Gly)
|
rs776185371
|
|
NM_014845.6(FIG4):c.1122C>G (p.Ile374Met)
|
|
|
NM_014845.6(FIG4):c.1272-10C>T
|
rs201293291
|
|
NM_014845.6(FIG4):c.1334G>A (p.Gly445Asp)
|
|
|
NM_014845.6(FIG4):c.1341T>C (p.Phe447=)
|
|
|
NM_014845.6(FIG4):c.1356T>C (p.Asp452=)
|
|
|
NM_014845.6(FIG4):c.1474C>T (p.Arg492Cys)
|
rs747284213
|
|
NM_014845.6(FIG4):c.1536G>T (p.Leu512=)
|
|
|
NM_014845.6(FIG4):c.1750+11A>C
|
|
|
NM_014845.6(FIG4):c.1763A>G (p.Gln588Arg)
|
|
|
NM_014845.6(FIG4):c.1794C>A (p.Phe598Leu)
|
|
|
NM_014845.6(FIG4):c.1801del (p.Thr601fs)
|
|
|
NM_014845.6(FIG4):c.1949-10T>G
|
|
|
NM_014845.6(FIG4):c.1986dup (p.Lys663fs)
|
rs1197741113
|
|
NM_014845.6(FIG4):c.202G>A (p.Gly68Ser)
|
|
|
NM_014845.6(FIG4):c.2097-10C>T
|
rs142482745
|
|
NM_014845.6(FIG4):c.2116G>T (p.Val706Phe)
|
|
|
NM_014845.6(FIG4):c.2141C>T (p.Thr714Ile)
|
|
|
NM_014845.6(FIG4):c.2180+20C>T
|
|
|
NM_014845.6(FIG4):c.2241G>A (p.Pro747=)
|
rs148589135
|
|
NM_014845.6(FIG4):c.2247dup (p.Ser750fs)
|
|
|
NM_014845.6(FIG4):c.2299dup (p.Glu767fs)
|
rs1191997383
|
|
NM_014845.6(FIG4):c.2319T>C (p.Ser773=)
|
|
|
NM_014845.6(FIG4):c.2327C>G (p.Ser776Cys)
|
|
|
NM_014845.6(FIG4):c.2376+2T>C
|
rs756308787
|
|
NM_014845.6(FIG4):c.2377-18T>C
|
|
|
NM_014845.6(FIG4):c.2377-19T>C
|
|
|
NM_014845.6(FIG4):c.2377-20_2377-19insC
|
|
|
NM_014845.6(FIG4):c.2377-20_2377-19insCT
|
|
|
NM_014845.6(FIG4):c.2441A>T (p.Asp814Val)
|
|
|
NM_014845.6(FIG4):c.252G>A (p.Ser84=)
|
|
|
NM_014845.6(FIG4):c.2552C>T (p.Pro851Leu)
|
rs201375273
|
|
NM_014845.6(FIG4):c.289+17C>T
|
|
|
NM_014845.6(FIG4):c.401A>C (p.Tyr134Ser)
|
rs571563767
|
|
NM_014845.6(FIG4):c.42G>A (p.Lys14=)
|
rs552856153
|
|
NM_014845.6(FIG4):c.446+32dup
|
|
|
NM_014845.6(FIG4):c.447-16delinsTT
|
|
|
NM_014845.6(FIG4):c.447-17dup
|
|
|
NM_014845.6(FIG4):c.447-3dup
|
rs11377100
|
|
NM_014845.6(FIG4):c.447-4_447-3dup
|
|
|
NM_014845.6(FIG4):c.498-13A>G
|
|
|
NM_014845.6(FIG4):c.617A>G (p.Asp206Gly)
|
rs1583663645
|
|
NM_014845.6(FIG4):c.645C>T (p.Ser215=)
|
rs751619327
|
|
NM_014845.6(FIG4):c.658A>G (p.Ile220Val)
|
rs565096937
|
|
NM_014845.6(FIG4):c.66+18G>A
|
|
|
NM_014845.6(FIG4):c.744G>A (p.Leu248=)
|
|
|
NM_014845.6(FIG4):c.799G>C (p.Val267Leu)
|
|