All transcript variants in gene PAX3

Information The variants shown are described using the NM_000438.5 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.9G>A r.(=) p.(=) g.223163326C>T Copied from the Exome Variant Server PAX3_000038 1/12930 0/8554 1/4376
?/? c.86-31T>A r.(=) p.(=) g.223161963A>T Copied from the Exome Variant Server PAX3_000037 3/12712 3/8406 0/4306
?/? c.105G>A r.(=) p.(=) g.223161913C>T Copied from the Exome Variant Server PAX3_000036 1/12982 0/8594 1/4388
?/? c.126C>A r.(=) p.(=) g.223161892G>T Copied from the Exome Variant Server PAX3_000035 4/12988 4/8590 0/4398
?/? c.129T>C r.(=) p.(=) g.223161889A>G Copied from the Exome Variant Server PAX3_000034 10993/12986 7279/8590 3714/4396
?/? c.156C>G r.(=) p.(=) g.223161862G>C Copied from the Exome Variant Server PAX3_000033 122/12986 8/8590 114/4396
?/? c.321+10C>A r.(=) p.(=) g.223161687G>T Copied from the Exome Variant Server PAX3_000032 3/13002 3/8598 0/4404
?/? c.321+48G>C r.(=) p.(=) g.223161649C>G Copied from the Exome Variant Server PAX3_000031 1/12916 1/8556 0/4360
?/? c.322-29C>T r.(=) p.(=) g.223160405G>A Copied from the Exome Variant Server PAX3_000030 9/13006 9/8600 0/4406
?/? c.322-17C>T r.(=) p.(=) g.223160393G>A Copied from the Exome Variant Server PAX3_000029 1/13006 1/8600 0/4406
?/? c.339C>T r.(=) p.(=) g.223160359G>A Copied from the Exome Variant Server PAX3_000027 1/13006 1/8600 0/4406
?/? c.382A>G r.(?) p.(Met128Val) g.223160316T>C Copied from the Exome Variant Server PAX3_000025 3/13006 2/8600 1/4406
?/? c.430G>T r.(?) p.(Asp144Tyr) g.223160268C>A Copied from the Exome Variant Server PAX3_000023 3/13006 0/8600 3/4406
?/? c.451+15A>C r.(=) p.(=) g.223160232T>G Copied from the Exome Variant Server PAX3_000021 1/13006 0/8600 1/4406
?/? c.451+25C>G r.(=) p.(=) g.223160222G>C Copied from the Exome Variant Server PAX3_000019 6/13006 0/8600 6/4406
?/? c.451+43C>T r.(=) p.(=) g.223160204G>A Copied from the Exome Variant Server PAX3_000017 2/13006 0/8600 2/4406
?/? c.484T>C r.(?) p.(Phe162Leu) g.223158988A>G Copied from the Exome Variant Server PAX3_000015 1/13006 0/8600 1/4406
?/? c.509C>A r.(?) p.(Ala170Asp) g.223158963G>T Copied from the Exome Variant Server PAX3_000013 1/13006 1/8600 0/4406
?/? c.513C>T r.(=) p.(=) g.223158959G>A Copied from the Exome Variant Server PAX3_000011 1/13006 0/8600 1/4406
?/? c.525G>C r.(?) p.(Lys175Asn) g.223158947C>G Copied from the Exome Variant Server PAX3_000009 31/13006 0/8600 31/4406
?/? c.540C>G r.(?) p.(Ser180Arg) g.223158932G>C Copied from the Exome Variant Server PAX3_000007 4/13006 1/8600 3/4406
?/? c.541G>A r.(?) p.(Glu181Lys) g.223158931C>T Copied from the Exome Variant Server PAX3_000005 1/13006 1/8600 0/4406
?/? c.561C>G r.(?) p.(Ser187Arg) g.223158911G>C Copied from the Exome Variant Server PAX3_000003 1/13006 1/8600 0/4406
?/? c.574C>T r.(=) p.(=) g.223158898G>A Copied from the Exome Variant Server PAX3_000028 1/13006 1/8600 0/4406
?/? c.580G>A r.(?) p.(Glu194Lys) g.223158892C>T Copied from the Exome Variant Server PAX3_000026 3/13006 3/8600 0/4406
?/? c.643A>G r.(?) p.(Ser215Gly) g.223158829T>C Copied from the Exome Variant Server PAX3_000024 11/7272 1/4618 10/2654
?/? c.*24A>C r.(=) p.(=) g.223158800T>G Copied from the Exome Variant Server PAX3_000022 36/7272 32/4618 4/2654
?/? c.*34G>C r.(=) p.(=) g.223158790C>G Copied from the Exome Variant Server PAX3_000020 15/7272 0/4618 15/2654
?/? c.*302A>G r.(=) p.(=) g.223158522T>C Copied from the Exome Variant Server PAX3_000018 1/13006 1/8600 0/4406
?/? c.*363C>T r.(=) p.(=) g.223158461G>A Copied from the Exome Variant Server PAX3_000016 1/13006 1/8600 0/4406
?/? c.*366G>A r.(=) p.(=) g.223158458C>T Copied from the Exome Variant Server PAX3_000014 1/13006 1/8600 0/4406
?/? c.*372C>T r.(=) p.(=) g.223158452G>A Copied from the Exome Variant Server PAX3_000012 7/13006 6/8600 1/4406
?/? c.*409G>A r.(=) p.(=) g.223158415C>T Copied from the Exome Variant Server PAX3_000010 1/13006 0/8600 1/4406
?/? c.*415C>T r.(=) p.(=) g.223158409G>A Copied from the Exome Variant Server PAX3_000008 1/13006 1/8600 0/4406
?/? c.*416G>A r.(=) p.(=) g.223158408C>T Copied from the Exome Variant Server PAX3_000006 1/13006 1/8600 0/4406
?/? c.*429T>C r.(=) p.(=) g.223158395A>G Copied from the Exome Variant Server PAX3_000004 2/13006 1/8600 1/4406
?/? c.*439T>C r.(=) p.(=) g.223158385A>G Copied from the Exome Variant Server PAX3_000002 77/4566 72/3182 5/1384
?/? c.*460C>G r.(=) p.(=) g.223158364G>C Copied from the Exome Variant Server PAX3_000001 1/4566 1/3182 0/1384
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