|
NM_003235.5(TG):c.3665C>T (p.Ser1222Leu)
|
rs12549018
|
0.00164
|
|
NM_003235.5(TG):c.848G>A (p.Arg283Gln)
|
rs146926250
|
0.00073
|
|
NM_003235.5(TG):c.229G>A (p.Gly77Ser)
|
rs142698837
|
0.00071
|
|
NM_003235.5(TG):c.455G>A (p.Arg152His)
|
rs114781869
|
0.00059
|
|
NM_003235.5(TG):c.4481C>T (p.Pro1494Leu)
|
rs146498231
|
0.00052
|
|
NM_003235.5(TG):c.886C>T (p.Arg296Ter)
|
rs121912648
|
0.00041
|
|
NM_003235.5(TG):c.6001G>A (p.Asp2001Asn)
|
rs199923962
|
0.00037
|
|
NM_003235.5(TG):c.993G>C (p.Gln331His)
|
rs61745783
|
0.00028
|
|
NM_003235.5(TG):c.1020C>T (p.Asp340=)
|
rs138114586
|
0.00021
|
|
NM_003235.5(TG):c.2560C>T (p.Arg854Trp)
|
rs202196940
|
0.00016
|
|
NM_003235.5(TG):c.4982G>A (p.Arg1661His)
|
rs115509019
|
0.00012
|
|
NM_003235.5(TG):c.4588C>T (p.Arg1530Ter)
|
rs121912646
|
0.00011
|
|
NM_003235.5(TG):c.3149G>T (p.Trp1050Leu)
|
rs142124591
|
0.00007
|
|
NM_003235.5(TG):c.2762-4C>T
|
rs372101475
|
0.00004
|
|
NM_003235.5(TG):c.5386C>T (p.Gln1796Ter)
|
rs754658907
|
0.00004
|
|
NM_003235.5(TG):c.6695C>T (p.Pro2232Leu)
|
rs201514086
|
0.00004
|
|
NM_003235.5(TG):c.2359C>T (p.Arg787Ter)
|
rs752966476
|
0.00002
|
|
NM_003235.5(TG):c.925A>G (p.Thr309Ala)
|
rs199712883
|
0.00002
|
|
NM_003235.5(TG):c.385G>A (p.Val129Ile)
|
rs115677932
|
0.00001
|
|
NM_003235.5(TG):c.5182T>C (p.Cys1728Arg)
|
rs376200169
|
0.00001
|
|
NM_003235.5(TG):c.638+5G>A
|
rs774274702
|
0.00001
|
|
NM_003235.5(TG):c.7123G>A (p.Gly2375Arg)
|
rs137854434
|
0.00001
|
|
NM_003235.5(TG):c.1042G>T (p.Gly348Ter)
|
|
|
|
NM_003235.5(TG):c.1072dup (p.Cys358fs)
|
|
|
|
NM_003235.5(TG):c.1076-1G>C
|
rs1412480668
|
|
|
NM_003235.5(TG):c.115G>T (p.Glu39Ter)
|
|
|
|
NM_003235.5(TG):c.1348del (p.Ser450fs)
|
|
|
|
NM_003235.5(TG):c.1351C>T (p.Arg451Ter)
|
rs773142559
|
|
|
NM_003235.5(TG):c.1425_1426dup (p.Phe476fs)
|
|
|
|
NM_003235.5(TG):c.1502dup (p.Gln502fs)
|
|
|
|
NM_003235.5(TG):c.1830_1831del (p.Gln610fs)
|
|
|
|
NM_003235.5(TG):c.1911G>A (p.Trp637Ter)
|
|
|
|
NM_003235.5(TG):c.2008C>T (p.Gln670Ter)
|
|
|
|
NM_003235.5(TG):c.213G>A (p.Trp71Ter)
|
|
|
|
NM_003235.5(TG):c.2266dup (p.Ser756fs)
|
|
|
|
NM_003235.5(TG):c.2311C>T (p.Gln771Ter)
|
|
|
|
NM_003235.5(TG):c.2443G>T (p.Gly815Ter)
|
rs16904774
|
|
|
NM_003235.5(TG):c.274+2T>G
|
|
|
|
NM_003235.5(TG):c.2761+1G>T
|
|
|
|
NM_003235.5(TG):c.2898del (p.Asn967fs)
|
|
|
|
NM_003235.5(TG):c.2950G>T (p.Glu984Ter)
|
|
|
|
NM_003235.5(TG):c.3001+2T>C
|
|
|
|
NM_003235.5(TG):c.3040G>C (p.Asp1014His)
|
rs114772213
|
|
|
NM_003235.5(TG):c.3231C>A (p.Cys1077Ter)
|
|
|
|
NM_003235.5(TG):c.3331-2A>G
|
|
|
|
NM_003235.5(TG):c.3488del (p.Pro1163fs)
|
|
|
|
NM_003235.5(TG):c.3634+1G>A
|
|
|
|
NM_003235.5(TG):c.3871C>T (p.Gln1291Ter)
|
|
|
|
NM_003235.5(TG):c.4014del (p.Phe1338fs)
|
|
|
|
NM_003235.5(TG):c.416G>A (p.Trp139Ter)
|
rs141306917
|
|
|
NM_003235.5(TG):c.4357del (p.Ser1453fs)
|
|
|
|
NM_003235.5(TG):c.4434delinsGA (p.Gly1479fs)
|
|
|
|
NM_003235.5(TG):c.4604A>G (p.Asp1535Gly)
|
|
|
|
NM_003235.5(TG):c.4644del (p.Arg1549fs)
|
|
|
|
NM_003235.5(TG):c.4670_4671del (p.Glu1557fs)
|
|
|
|
NM_003235.5(TG):c.479-2A>G
|
|
|
|
NM_003235.5(TG):c.5184C>A (p.Cys1728Ter)
|
rs199599591
|
|
|
NM_003235.5(TG):c.5367dup (p.Ile1790fs)
|
|
|
|
NM_003235.5(TG):c.5549-1_5556del
|
|
|
|
NM_003235.5(TG):c.6131G>T (p.Arg2044Leu)
|
rs573866267
|
|
|
NM_003235.5(TG):c.6391_6394del (p.Leu2131fs)
|
|
|
|
NM_003235.5(TG):c.6562+1G>A
|
|
|
|
NM_003235.5(TG):c.6562+2T>A
|
|
|
|
NM_003235.5(TG):c.6562+2T>C
|
|
|
|
NM_003235.5(TG):c.6780_6782+13delinsTGGGATGCCTG
|
|
|
|
NM_003235.5(TG):c.6782+1G>T
|
|
|
|
NM_003235.5(TG):c.6794G>A (p.Trp2265Ter)
|
|
|
|
NM_003235.5(TG):c.7007G>A (p.Arg2336Gln)
|
rs121912650
|
|
|
NM_003235.5(TG):c.7036+2T>G
|
|
|
|
NM_003235.5(TG):c.7037-2del
|
|
|
|
NM_003235.5(TG):c.7363C>T (p.Arg2455Cys)
|
rs201444172
|
|
|
NM_003235.5(TG):c.745+1_745+9delinsATC
|
|
|
|
NM_003235.5(TG):c.7588C>T (p.Arg2530Ter)
|
|
|
|
NM_003235.5(TG):c.773_774del (p.Ile257_Tyr258insTer)
|
|
|
|
NM_003235.5(TG):c.7863-1G>A
|
|
|
|
NM_003235.5(TG):c.7955C>A (p.Ser2652Ter)
|
|
|
|
NM_003235.5(TG):c.961C>T (p.Arg321Ter)
|
|
|