All variants affecting transcripts

66 entries on 1 page. Showing entries 1 - 66.
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AscendingGene     

Transcript     

Chr     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

Frequency     

Owner     

Effect     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NF1 NM_001042492.2 17 Unknown g.31155981A>G - NF1_000001 - Admin +/+ 1i c.61-2A>G r.spl? p.?
NF1 NM_001042492.2 17 Unknown g.31155982G>T - NF1_000002 - Admin +/+ 1i c.61-1G>T r.spl? p.?
NF1 NM_001042492.2 17 Unknown g.31156001C>T - NF1_000003 - Admin +/+ 2 c.79C>T r.(?) p.(Gln27*)
NF1 NM_001042492.2 17 Unknown g.31156091G>A - NF1_000004 - Admin ?/? 2 c.169G>A r.(?) p.(Gly57Ser)
NF1 NM_001042492.2 17 Unknown g.31159094G>C - NF1_000005 - Admin +/+ 3i c.288+1G>C r.spl? p.?
NF1 NM_001042492.2 17 Unknown g.31200401C>T - NF1_000006 - Admin ?/? 8i c.889-21C>T r.(=) p.(=)
NF1 NM_001042492.2 17 Unknown g.31200513T>C - NF1_000007 - Admin +/+ 9 c.980T>C r.(?) p.(Leu327Pro)
NF1 NM_001042492.2 17 Unknown g.31200532C>G - NF1_000008 - Admin +/+ 9 c.999C>G r.(?) p.(Tyr333*)
NF1 NM_001042492.2 17 Unknown g.31201471C>T - NF1_000009 - Admin +/+ 11 c.1246C>T r.(?) p.(Arg416*)
NF1 NM_001042492.2 17 Unknown g.31214517A>T - NF1_000010 - Admin +/+ 13 c.1459A>T r.(?) p.(Arg487*)
NF1 NM_001042492.2 17 Unknown g.31214524A>G - NF1_000011 - Admin +/+ 13 c.1466A>G r.(?) p.(Tyr489Cys)
NF1 NM_001042492.2 17 Unknown g.31214589_31214592del - NF1_000012 - Admin +/+ 13i c.1527+4_1527+7del r.spl? p.?
NF1 NM_001042492.2 17 Unknown g.31214590G>C - NF1_000013 - Admin +?/+? 13i c.1527+5G>C r.spl? p.?
NF1 NM_001042492.2 17 Unknown g.31219018_31219019del - NF1_000014 - Admin +/+ 14 c.1541_1542del r.(?) p.(Gln514Argfs*43)
NF1 NM_001042492.2 17 Unknown g.31221929G>A - NF1_000015 - Admin +/+ 15 c.1721G>A r.(?) p.(Ser574Asn)
NF1 NM_001042492.2 17 Unknown g.31223443G>A - NF1_000016 - Admin +/+ 15i c.1722-1G>A r.spl? p.?
NF1 NM_001042492.2 17 Unknown g.31223478_31223481del - NF1_000017 - Admin +/+ 16 c.1756_1759del r.(?) p.(Thr586Valfs*18)
NF1 NM_001042492.2 17 Unknown g.31225145_31225148dup - NF1_000018 - Admin +/+ 17 c.1896_1899dup r.(?) p.(Ile634*)
NF1 NM_001042492.2 17 Unknown g.31225151del - NF1_000019 - Admin +/+ 17 c.1902del r.(?) p.(Pro635Leufs*53)
NF1 NM_001042492.2 17 Unknown g.31225173C>T - NF1_000020 - Admin +/+ 17 c.1924C>T r.(?) p.(Gln642*)
NF1 NM_001042492.2 17 Unknown g.31226474C>T - NF1_000021 - Admin +/+ 18 c.2041C>T r.(?) p.(Arg681*)
NF1 NM_001042492.2 17 Unknown g.31226594dup - NF1_000022 - Admin +/+ 18 c.2161dup r.(?) p.(Cys721Leufs*5)
NF1 NM_001042492.2 17 Unknown g.31226687A>T - NF1_000023 - Admin ?/? 18i c.2251+3A>T r.spl? p.?
NF1 NM_001042492.2 17 Unknown g.31229201dup - NF1_000024 - Admin +/+ 21 c.2586dup r.(?) p.(Tyr863Leufs*2)
NF1 NM_001042492.2 17 Unknown g.31229308T>C - NF1_000025 - Admin +/+ 21 c.2693T>C r.(?) p.(Leu898Pro)
NF1 NM_001042492.2 17 Unknown g.31229954_31229956del - NF1_000026 - Admin +/+ 22 c.2970_2972del r.(?) p.(Met992del)
NF1 NM_001042492.2 17 Unknown g.31230259G>A - NF1_000027 - Admin +/+ 22i c.2991-1G>A r.spl? p.?
NF1 NM_001042492.2 17 Unknown g.31230387G>T - NF1_000028 - Admin +?/+? 23i c.3113+5G>T r.spl? p.?
NF1 NM_001042492.2 17 Unknown g.31230884_31230885del - NF1_000029 - Admin +/+ 24 c.3156_3157del r.(?) p.(Ser1053Lysfs*6)
NF1 NM_001042492.2 17 Unknown g.31230921_31230922del - NF1_000030 - Admin +/+ 24 c.3193_3194del r.(?) p.(Thr1065Lysfs*23)
NF1 NM_001042492.2 17 Unknown g.31233193_31233207del - NF1_000031 - Admin +?/+? 27 c.3688_3702del r.(?) p.(Val1230_Ser1234del)
NF1 NM_001042492.2 17 Unknown g.31235641_31235644del - NF1_000032 - Admin +/+ 28 c.3739_3742del r.(?) p.(Phe1247Ilefs*18)
NF1 NM_001042492.2 17 Unknown g.31235728C>T - NF1_000033 - Admin +/+ 28 c.3826C>T r.(?) p.(Arg1276*)
NF1 NM_001042492.2 17 Unknown g.31235923T>G - NF1_000034 - Admin +/+ 29 c.3876T>G r.(?) p.(Tyr1292*)
NF1 NM_001042492.2 17 Unknown g.31249086del - NF1_000035 - Admin +/+ 30 c.4077del r.(?) p.(Gln1360Asnfs*18)
NF1 NM_001042492.2 17 Unknown g.31249093C>T - NF1_000036 - Admin +/+ 30 c.4084C>T r.(?) p.(Arg1362*)
NF1 NM_001042492.2 17 Unknown g.31258458A>T - NF1_000037 - Admin +/+ 32 c.4288A>T r.(?) p.(Lys1430*)
NF1 NM_001042492.2 17 Unknown g.31261733C>T - NF1_000038 - Admin +/+ 35 c.4600C>T r.(?) p.(Arg1534*)
NF1 NM_001042492.2 17 Unknown g.31265248_31265252del - NF1_000039 - Admin +/+ 36 c.4744_4748del r.(?) p.(Glu1582Ilefs*38)
NF1 NM_001042492.2 17 Unknown g.31265287C>T - NF1_000040 - Admin +/+ 36 c.4783C>T r.(?) p.(Gln1595*)
NF1 NM_001042492.2 17 Unknown g.31325912T>A - NF1_000041 - Admin +?/+? 37 c.4928T>A r.(?) p.(Val1643Glu)
NF1 NM_001042492.2 17 Unknown g.31326020_31326025del - NF1_000042 - Admin +/+ 37 c.5036_5041del r.(?) p.(Ile1679_Tyr1680del)
NF1 NM_001042492.2 17 Unknown g.31327498G>C - NF1_000043 - Admin +/+ 37i c.5269-1G>C r.spl? p.?
NF1 NM_001042492.2 17 Unknown g.31327535C>T - NF1_000044 - Admin +/+ 38 c.5305C>T r.(?) p.(Arg1769*)
NF1 NM_001042492.2 17 Unknown g.31327577del - NF1_000045 - Admin +/+ 38 c.5347del r.(?) p.(Tyr1783Ilefs*11)
NF1 NM_001042492.2 17 Unknown g.31327694C>T - NF1_000046 - Admin +/+ 38 c.5464C>T r.(?) p.(Gln1822*)
NF1 NM_001042492.2 17 Unknown g.31327744dup - NF1_000047 - Admin +/+ 38 c.5514dup r.(?) p.(Ile1839Tyrfs*23)
NF1 NM_001042492.2 17 Unknown g.31327791T>G - NF1_000048 - Admin +/+ 38 c.5561T>G r.(?) p.(Leu1854Arg)
NF1 NM_001042492.2 17 Unknown g.31327839G>A - NF1_000049 - Admin +/+ 38 c.5609G>A r.(?) p.(Arg1870Gln)
NF1 NM_001042492.2 17 Unknown g.31327844G>A - NF1_000050 - Admin +/+ 38i c.5609+5G>A r.spl? p.?
NF1 NM_001042492.2 17 Unknown g.31330474T>C - NF1_000051 - Admin +/+ 39 c.5788T>C r.(?) p.(Cys1930Arg)
NF1 NM_001042492.2 17 Unknown g.31334932_31334933del - NF1_000052 - Admin +/+ 40 c.5907_5908del r.(?) p.(Arg1970Serfs*6)
NF1 NM_001042492.2 17 Unknown g.31335015G>A - NF1_000053 - Admin +/+ 40 c.5990G>A r.(?) p.(Trp1997*)
NF1 NM_001042492.2 17 Unknown g.31337455C>A - NF1_000054 - Admin +/+ 43 c.6515C>A r.(?) p.(Ser2172*)
NF1 NM_001042492.2 17 Unknown g.31338142A>G - NF1_000055 - Admin +/+ 45i c.6819+3A>G r.spl? p.?
NF1 NM_001042492.2 17 Unknown g.31338092C>T - NF1_000056 - Admin +/+ 45 c.6772C>T r.(?) p.(Arg2258*)
NF1 NM_001042492.2 17 Unknown g.31338736_31338739del - NF1_000057 - Admin +/+ 46 c.6852_6855del r.(?) p.(Tyr2285Thrfs*5)
NF1 NM_001042492.2 17 Unknown g.31338739C>G - NF1_000058 - Admin +/+ 46 c.6855C>G r.(?) p.(Tyr2285*)
NF1 NM_001042492.2 17 Unknown g.31340572T>A - NF1_000059 - Admin +/+ 47 c.6989T>A r.(?) p.(Leu2330*)
NF1 NM_001042492.2 17 Unknown g.31343134del - NF1_000060 - Admin +/+ 48 c.7188del r.(?) p.(Tyr2398Thrfs*20)
NF1 NM_001042492.2 17 Unknown g.31349171A>C - NF1_000061 - Admin +?/+? 49 c.7241A>C r.(?) p.(His2414Pro)
NF1 NM_001042492.2 17 Unknown g.31349241_31349243del - NF1_000062 - Admin +/+ 49 c.7311_7313del r.(?) p.(Tyr2438del)
NF1 NM_001042492.2 17 Unknown g.31349251G>A - NF1_000063 - Admin +?/+? 49 c.7321G>A r.(?) p.(Ala2441Thr)
NF1 NM_001042492.2 17 Unknown g.31159038del - NF1_000064 - Admin +/+ 3 c.233del r.(?) p.(Asn78Ilefs*7)
NF2 NM_000268.3 22 Unknown g.29639213G>A - NF2_000001 - Admin +/+ 3i c.363+1G>A r.spl? p.?
NF2 NM_000268.3 22 Unknown g.29673374C>T - NF2_000002 - Admin +/+ 12 c.1228C>T r.(?) p.(Gln410*)
Legend