All transcript variants in gene RBMXL3

Information The variants shown are described using the NM_001145346.1 transcript reference sequence.

56 entries on 1 page. Showing entries 1 - 56.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.17G>A r.(?) p.(Arg6His) g.114424021G>A Copied from the Exome Variant Server RBMXL3_000001 23/3600 0/2391 23/1209
?/? c.60C>T r.(=) p.(=) g.114424064C>T Copied from the Exome Variant Server RBMXL3_000002 1/3600 0/2391 1/1209
?/? c.144G>A r.(=) p.(=) g.114424148G>A Copied from the Exome Variant Server RBMXL3_000003 425/3600 391/2391 34/1209
?/? c.184G>A r.(?) p.(Ala62Thr) g.114424188G>A Copied from the Exome Variant Server RBMXL3_000004 1/3600 1/2391 0/1209
?/? c.810G>A r.(=) p.(=) g.114424814G>A Copied from the Exome Variant Server RBMXL3_000005 24/3596 23/2387 1/1209
?/? c.832G>A r.(?) p.(Asp278Asn) g.114424836G>A Copied from the Exome Variant Server RBMXL3_000006 116/3600 111/2391 5/1209
?/? c.861C>T r.(=) p.(=) g.114424865C>T Copied from the Exome Variant Server RBMXL3_000007 11/3600 11/2391 0/1209
?/? c.921C>T r.(=) p.(=) g.114424925C>T Copied from the Exome Variant Server RBMXL3_000008 3/3600 2/2391 1/1209
?/? c.929C>T r.(?) p.(Pro310Leu) g.114424933C>T Copied from the Exome Variant Server RBMXL3_000009 5/3600 0/2391 5/1209
?/? c.937G>A r.(?) p.(Ala313Thr) g.114424941G>A Copied from the Exome Variant Server RBMXL3_000010 426/3600 392/2391 34/1209
?/? c.949T>C r.(?) p.(Trp317Arg) g.114424953T>C Copied from the Exome Variant Server RBMXL3_000011 16/3600 0/2391 16/1209
?/? c.1177_1178insGAGGCCGCTCGCCCAACGCCCACAGCG r.(?) p.(Pro397_Asp398insAsnAlaHisSerGlyGlyArgSerPro) g.114425181_114425182insGAGGCCGCTCGCCCAACGCCCACAGCG Copied from the Exome Variant Server RBMXL3_000012 4684/5201 3178/3234 1506/1967
?/? c.1177_1178insGAGGCCGCTCGCCCAACGCCCACAGTG r.(?) p.(Pro397_Asp398insAsnAlaHisSerGlyGlyArgSerPro) g.114425181_114425182insGAGGCCGCTCGCCCAACGCCCACAGTG Copied from the Exome Variant Server RBMXL3_000013 8/5201 3/3234 5/1967
?/? c.1234G>A r.(?) p.(Gly412Ser) g.114425238G>A Copied from the Exome Variant Server RBMXL3_000014 416/3584 383/2377 33/1207
?/? c.1387G>A r.(?) p.(Asp463Asn) g.114425391G>A Copied from the Exome Variant Server RBMXL3_000015 10/3600 0/2391 10/1209
?/? c.1396G>A r.(?) p.(Gly466Arg) g.114425400G>A Copied from the Exome Variant Server RBMXL3_000016 2282/3600 1747/2391 535/1209
?/? c.1433C>T r.(?) p.(Ser478Leu) g.114425437C>T Copied from the Exome Variant Server RBMXL3_000017 2/3600 0/2391 2/1209
?/? c.1504G>A r.(?) p.(Asp502Asn) g.114425508G>A Copied from the Exome Variant Server RBMXL3_000018 61/3600 1/2391 60/1209
?/? c.1554del r.(?) p.(Asp519Metfs*455) g.114425558del Copied from the Exome Variant Server RBMXL3_000019 5/6355 0/3874 5/2481
?/? c.1573C>T r.(?) p.(Arg525Cys) g.114425577C>T Copied from the Exome Variant Server RBMXL3_000020 3/3600 3/2391 0/1209
?/? c.1574G>A r.(?) p.(Arg525His) g.114425578G>A Copied from the Exome Variant Server RBMXL3_000021 1/3600 0/2391 1/1209
?/? c.1612A>T r.(?) p.(Ser538Cys) g.114425616A>T Copied from the Exome Variant Server RBMXL3_000022 18/3600 0/2391 18/1209
?/? c.1676C>G r.(?) p.(Ser559Trp) g.114425680C>G Copied from the Exome Variant Server RBMXL3_000024 16/3600 0/2391 16/1209
?/? c.1750C>T r.(?) p.(Arg584Cys) g.114425754C>T Copied from the Exome Variant Server RBMXL3_000023 44/3600 0/2391 44/1209
?/? c.1755C>T r.(=) p.(=) g.114425759C>T Copied from the Exome Variant Server RBMXL3_000025 26/3600 0/2391 26/1209
?/? c.1872C>T r.(=) p.(=) g.114425876C>T Copied from the Exome Variant Server RBMXL3_000026 1/3600 1/2391 0/1209
?/? c.1919C>A r.(?) p.(Ala640Asp) g.114425923C>A Copied from the Exome Variant Server RBMXL3_000027 425/3600 391/2391 34/1209
?/? c.1938G>A r.(=) p.(=) g.114425942G>A Copied from the Exome Variant Server RBMXL3_000028 1/3600 0/2391 1/1209
?/? c.1962C>T r.(=) p.(=) g.114425966C>T Copied from the Exome Variant Server RBMXL3_000029 16/3600 0/2391 16/1209
?/? c.1963G>A r.(?) p.(Asp655Asn) g.114425967G>A Copied from the Exome Variant Server RBMXL3_000030 5/3600 0/2391 5/1209
?/? c.2054C>T r.(?) p.(Ser685Leu) g.114426058C>T Copied from the Exome Variant Server RBMXL3_000031 9/3600 9/2391 0/1209
?/? c.2055G>A r.(=) p.(=) g.114426059G>A Copied from the Exome Variant Server RBMXL3_000032 62/3600 0/2391 62/1209
?/? c.2167C>T r.(?) p.(Arg723Cys) g.114426171C>T Copied from the Exome Variant Server RBMXL3_000033 3344/3600 2387/2391 957/1209
?/? c.2188C>T r.(?) p.(Arg730Trp) g.114426192C>T Copied from the Exome Variant Server RBMXL3_000034 3/3600 1/2391 2/1209
?/? c.2189G>A r.(?) p.(Arg730Gln) g.114426193G>A Copied from the Exome Variant Server RBMXL3_000035 193/3600 178/2391 15/1209
?/? c.2237G>A r.(?) p.(Arg746His) g.114426241G>A Copied from the Exome Variant Server RBMXL3_000036 3/3600 2/2391 1/1209
?/? c.2288G>A r.(?) p.(Gly763Asp) g.114426292G>A Copied from the Exome Variant Server RBMXL3_000037 9/3600 9/2391 0/1209
?/? c.2333G>A r.(?) p.(Arg778His) g.114426337G>A Copied from the Exome Variant Server RBMXL3_000038 32/3600 22/2391 10/1209
?/? c.2338G>A r.(?) p.(Glu780Lys) g.114426342G>A Copied from the Exome Variant Server RBMXL3_000039 48/3600 1/2391 47/1209
?/? c.2358G>A r.(=) p.(=) g.114426362G>A Copied from the Exome Variant Server RBMXL3_000040 16/3600 0/2391 16/1209
?/? c.2381G>A r.(?) p.(Arg794His) g.114426385G>A Copied from the Exome Variant Server RBMXL3_000041 421/3600 387/2391 34/1209
?/? c.2547C>T r.(=) p.(=) g.114426551C>T Copied from the Exome Variant Server RBMXL3_000042 20/3600 0/2391 20/1209
?/? c.2604G>A r.(=) p.(=) g.114426608G>A Copied from the Exome Variant Server RBMXL3_000043 1/3600 1/2391 0/1209
?/? c.2627G>A r.(?) p.(Arg876Gln) g.114426631G>A Copied from the Exome Variant Server RBMXL3_000044 1/3600 0/2391 1/1209
?/? c.2761C>T r.(?) p.(Pro921Ser) g.114426765C>T Copied from the Exome Variant Server RBMXL3_000045 264/3599 245/2390 19/1209
?/? c.2775_2776insGG r.(?) p.(Arg928Alafs*47) g.114426779_114426780insGG Copied from the Exome Variant Server RBMXL3_000046 54/5353 35/3419 19/1934
?/? c.2799_2801del r.(?) p.(Asn935del) g.114426803_114426805del Copied from the Exome Variant Server RBMXL3_000047 1/5849 0/3702 1/2147
?/? c.2901C>T r.(=) p.(=) g.114426905C>T Copied from the Exome Variant Server RBMXL3_000048 77/3600 71/2391 6/1209
?/? c.2913C>T r.(=) p.(=) g.114426917C>T Copied from the Exome Variant Server RBMXL3_000049 2299/3600 1746/2391 553/1209
?/? c.2974G>A r.(?) p.(Asp992Asn) g.114426978G>A Copied from the Exome Variant Server RBMXL3_000050 1/3600 1/2391 0/1209
?/? c.2976C>T r.(=) p.(=) g.114426980C>T Copied from the Exome Variant Server RBMXL3_000051 1/3600 1/2391 0/1209
?/? c.2985C>T r.(=) p.(=) g.114426989C>T Copied from the Exome Variant Server RBMXL3_000052 1/3600 0/2391 1/1209
?/? c.2986G>A r.(?) p.(Gly996Ser) g.114426990G>A Copied from the Exome Variant Server RBMXL3_000053 8/3600 0/2391 8/1209
?/? c.2994C>T r.(=) p.(=) g.114426998C>T Copied from the Exome Variant Server RBMXL3_000054 1/3600 1/2391 0/1209
?/? c.3025G>A r.(?) p.(Asp1009Asn) g.114427029G>A Copied from the Exome Variant Server RBMXL3_000055 8/3600 0/2391 8/1209
?/? c.3063G>A r.(=) p.(=) g.114427067G>A Copied from the Exome Variant Server RBMXL3_000056 1/3600 1/2391 0/1209
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