NM_003235.5(TG):c.229G>A (p.Gly77Ser)
|
rs142698837
|
0.00071
|
NM_003235.5(TG):c.886C>T (p.Arg296Ter)
|
rs121912648
|
0.00041
|
NM_003235.5(TG):c.4588C>T (p.Arg1530Ter)
|
rs121912646
|
0.00011
|
NM_003235.5(TG):c.475C>T (p.Arg159Ter)
|
rs759267330
|
0.00004
|
NM_003235.5(TG):c.5386C>T (p.Gln1796Ter)
|
rs754658907
|
0.00004
|
NM_003235.5(TG):c.6379C>T (p.Arg2127Ter)
|
rs375424292
|
0.00003
|
NM_003235.5(TG):c.1333C>T (p.Arg445Ter)
|
rs748309986
|
0.00002
|
NM_003235.5(TG):c.2359C>T (p.Arg787Ter)
|
rs752966476
|
0.00002
|
NM_003235.5(TG):c.1143del (p.Tyr382fs)
|
rs778849740
|
0.00001
|
NM_003235.5(TG):c.5686+1G>T
|
rs374620255
|
0.00001
|
NM_003235.5(TG):c.5895C>A (p.Tyr1965Ter)
|
rs1255388549
|
0.00001
|
NM_003235.5(TG):c.6725G>A (p.Arg2242His)
|
rs2069566
|
0.00001
|
NM_003235.5(TG):c.85C>T (p.Gln29Ter)
|
rs1554648860
|
0.00001
|
NM_003235.5(TG):c.1011del (p.Trp337fs)
|
|
|
NM_003235.5(TG):c.1021_1022insTCCG (p.Ala341fs)
|
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NM_003235.5(TG):c.1105C>T (p.Gln369Ter)
|
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|
NM_003235.5(TG):c.1175_1176del (p.Pro392fs)
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NM_003235.5(TG):c.1301_1302del (p.Ser434fs)
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NM_003235.5(TG):c.1348del (p.Ser450fs)
|
|
|
NM_003235.5(TG):c.1351C>T (p.Arg451Ter)
|
rs773142559
|
|
NM_003235.5(TG):c.1495C>T (p.Gln499Ter)
|
|
|
NM_003235.5(TG):c.151C>T (p.Gln51Ter)
|
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NM_003235.5(TG):c.1675del (p.Gln559fs)
|
|
|
NM_003235.5(TG):c.1695_1696del (p.Lys566fs)
|
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|
NM_003235.5(TG):c.1714del (p.Leu572fs)
|
|
|
NM_003235.5(TG):c.1831_1841del (p.Thr611fs)
|
|
|
NM_003235.5(TG):c.1946C>G (p.Ser649Ter)
|
|
|
NM_003235.5(TG):c.1978del (p.Thr660fs)
|
|
|
NM_003235.5(TG):c.2149C>T (p.Arg717Ter)
|
|
|
NM_003235.5(TG):c.2206C>T (p.Gln736Ter)
|
|
|
NM_003235.5(TG):c.2234dup (p.Leu746fs)
|
rs1815680018
|
|
NM_003235.5(TG):c.2286del (p.Gln762fs)
|
|
|
NM_003235.5(TG):c.2427_2428del (p.Tyr809_Arg810delinsTer)
|
|
|
NM_003235.5(TG):c.2431G>T (p.Glu811Ter)
|
|
|
NM_003235.5(TG):c.2443G>T (p.Gly815Ter)
|
rs16904774
|
|
NM_003235.5(TG):c.2475T>A (p.Tyr825Ter)
|
|
|
NM_003235.5(TG):c.253C>T (p.Gln85Ter)
|
|
|
NM_003235.5(TG):c.2566C>T (p.Gln856Ter)
|
|
|
NM_003235.5(TG):c.2623C>T (p.Gln875Ter)
|
|
|
NM_003235.5(TG):c.274+1G>A
|
|
|
NM_003235.5(TG):c.274+2T>G
|
|
|
NM_003235.5(TG):c.2760_2761del (p.Cys921fs)
|
|
|
NM_003235.5(TG):c.2800C>T (p.Gln934Ter)
|
|
|
NM_003235.5(TG):c.2866_2867del (p.Ser956fs)
|
|
|
NM_003235.5(TG):c.295C>T (p.Gln99Ter)
|
|
|
NM_003235.5(TG):c.301C>T (p.Gln101Ter)
|
|
|
NM_003235.5(TG):c.3071C>A (p.Ser1024Ter)
|
|
|
NM_003235.5(TG):c.3111G>A (p.Trp1037Ter)
|
|
|
NM_003235.5(TG):c.3120del (p.Gln1041fs)
|
|
|
NM_003235.5(TG):c.3126C>A (p.Cys1042Ter)
|
|
|
NM_003235.5(TG):c.3147_3157del (p.Cys1049_Asp1053delinsTer)
|
|
|
NM_003235.5(TG):c.3205C>T (p.Gln1069Ter)
|
|
|
NM_003235.5(TG):c.3214C>T (p.Gln1072Ter)
|
|
|
NM_003235.5(TG):c.3231C>A (p.Cys1077Ter)
|
|
|
NM_003235.5(TG):c.3241C>T (p.Arg1081Ter)
|
|
|
NM_003235.5(TG):c.3431dup (p.Cys1145fs)
|
|
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NM_003235.5(TG):c.3553C>T (p.Gln1185Ter)
|
|
|
NM_003235.5(TG):c.355C>T (p.Gln119Ter)
|
|
|
NM_003235.5(TG):c.3566G>A (p.Trp1189Ter)
|
|
|
NM_003235.5(TG):c.3601_3616del (p.Thr1201fs)
|
|
|
NM_003235.5(TG):c.3612_3627del (p.Gly1205fs)
|
|
|
NM_003235.5(TG):c.3612dup (p.Gly1205fs)
|
|
|
NM_003235.5(TG):c.3677del (p.Gly1226fs)
|
|
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NM_003235.5(TG):c.3694_3697dup (p.Thr1233fs)
|
|
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NM_003235.5(TG):c.3790T>C (p.Cys1264Arg)
|
|
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NM_003235.5(TG):c.3889C>T (p.Gln1297Ter)
|
|
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NM_003235.5(TG):c.3930C>A (p.Tyr1310Ter)
|
|
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NM_003235.5(TG):c.4057C>T (p.Gln1353Ter)
|
|
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NM_003235.5(TG):c.4159+1G>A
|
|
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NM_003235.5(TG):c.416G>A (p.Trp139Ter)
|
rs141306917
|
|
NM_003235.5(TG):c.4210C>T (p.Gln1404Ter)
|
|
|
NM_003235.5(TG):c.4317del (p.Cys1440fs)
|
|
|
NM_003235.5(TG):c.4377C>A (p.Cys1459Ter)
|
|
|
NM_003235.5(TG):c.4444C>T (p.Gln1482Ter)
|
|
|
NM_003235.5(TG):c.4463T>A (p.Leu1488Ter)
|
|
|
NM_003235.5(TG):c.4519C>T (p.Gln1507Ter)
|
|
|
NM_003235.5(TG):c.4582C>T (p.Gln1528Ter)
|
|
|
NM_003235.5(TG):c.4606del (p.Arg1536fs)
|
|
|
NM_003235.5(TG):c.4697T>A (p.Leu1566Ter)
|
|
|
NM_003235.5(TG):c.4936C>T (p.Arg1646Ter)
|
|
|
NM_003235.5(TG):c.4986_4987del (p.Cys1662_Gln1663delinsTer)
|
|
|
NM_003235.5(TG):c.5030del (p.Tyr1677fs)
|
|
|
NM_003235.5(TG):c.5173del (p.Leu1725fs)
|
|
|
NM_003235.5(TG):c.5184C>A (p.Cys1728Ter)
|
rs199599591
|
|
NM_003235.5(TG):c.5202C>A (p.Cys1734Ter)
|
|
|
NM_003235.5(TG):c.5268del (p.Ser1756fs)
|
|
|
NM_003235.5(TG):c.5389G>T (p.Glu1797Ter)
|
|
|
NM_003235.5(TG):c.5509_5518del (p.Lys1837fs)
|
rs1554681801
|
|
NM_003235.5(TG):c.5590del (p.Val1864fs)
|
|
|
NM_003235.5(TG):c.5608C>T (p.Gln1870Ter)
|
|
|
NM_003235.5(TG):c.5672dup (p.Trp1892fs)
|
|
|
NM_003235.5(TG):c.5686+1G>A
|
|
|
NM_003235.5(TG):c.5695C>T (p.Gln1899Ter)
|
|
|
NM_003235.5(TG):c.5992C>T (p.Arg1998Ter)
|
|
|
NM_003235.5(TG):c.6109G>T (p.Glu2037Ter)
|
|
|
NM_003235.5(TG):c.6114_6115insGC (p.Asn2039fs)
|
|
|
NM_003235.5(TG):c.6128G>A (p.Trp2043Ter)
|
|
|
NM_003235.5(TG):c.6228C>A (p.Cys2076Ter)
|
|
|
NM_003235.5(TG):c.6517C>T (p.Arg2173Ter)
|
|
|
NM_003235.5(TG):c.6549del (p.Tyr2184fs)
|
|
|
NM_003235.5(TG):c.6598del (p.Ser2200fs)
|
|
|
NM_003235.5(TG):c.6634_6637dup (p.Ser2213Ter)
|
rs775044481
|
|
NM_003235.5(TG):c.6730C>T (p.Gln2244Ter)
|
|
|
NM_003235.5(TG):c.6766del (p.Asp2256fs)
|
|
|
NM_003235.5(TG):c.6854del (p.Asn2285fs)
|
|
|
NM_003235.5(TG):c.7006C>T (p.Arg2336Ter)
|
|
|
NM_003235.5(TG):c.7082_7083insAAAA (p.Ala2362fs)
|
|
|
NM_003235.5(TG):c.7111C>T (p.Arg2371Ter)
|
|
|
NM_003235.5(TG):c.73C>T (p.Gln25Ter)
|
|
|
NM_003235.5(TG):c.7573C>T (p.Gln2525Ter)
|
|
|
NM_003235.5(TG):c.7672del (p.Ala2558fs)
|
|
|
NM_003235.5(TG):c.7813C>T (p.Arg2605Ter)
|
|
|
NM_003235.5(TG):c.7833C>G (p.Tyr2611Ter)
|
|
|
NM_003235.5(TG):c.7919_7920del (p.Ala2639_Tyr2640insTer)
|
|
|
NM_003235.5(TG):c.7920C>A (p.Tyr2640Ter)
|
|
|
NM_003235.5(TG):c.8000del (p.Asn2667fs)
|
|
|
NM_003235.5(TG):c.8010C>A (p.Tyr2670Ter)
|
|
|
NM_003235.5(TG):c.8057del (p.Pro2686fs)
|
|
|
NM_003235.5(TG):c.8095G>T (p.Glu2699Ter)
|
|
|
NM_003235.5(TG):c.8119C>T (p.Arg2707Ter)
|
|
|
NM_003235.5(TG):c.866C>A (p.Ser289Ter)
|
|
|
NM_003235.5(TG):c.961C>T (p.Arg321Ter)
|
|
|