Unique variants in gene PNMA3

Information The variants shown are described using the NM_013364.4 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-47C>T r.(=) p.(=) g.152225366C>T Copied from the Exome Variant Server PNMA3_000036 1/10563 1/6728 0/3835
1 c.-34C>A r.(=) p.(=) g.152225379C>A Copied from the Exome Variant Server PNMA3_000037 3497/10563 2935/6728 562/3835
1 c.-20A>G r.(=) p.(=) g.152225393A>G Copied from the Exome Variant Server PNMA3_000038 2/10563 1/6728 1/3835
1 c.-17C>T r.(=) p.(=) g.152225396C>T Copied from the Exome Variant Server PNMA3_000039 1/10563 1/6728 0/3835
1 c.28T>A r.(?) p.(Cys10Ser) g.152225440T>A Copied from the Exome Variant Server PNMA3_000040 3/10563 0/6728 3/3835
1 c.89G>A r.(?) p.(Cys30Tyr) g.152225501G>A Copied from the Exome Variant Server PNMA3_000012 1/10563 0/6728 1/3835
1 c.108G>A r.(=) p.(=) g.152225520G>A Copied from the Exome Variant Server PNMA3_000013 1/10563 1/6728 0/3835
1 c.217A>G r.(?) p.(Ile73Val) g.152225629A>G Copied from the Exome Variant Server PNMA3_000014 1/10563 0/6728 1/3835
1 c.254_255insG r.(?) p.(Pro88Alafs*10) g.152225666_152225667insG Copied from the Exome Variant Server PNMA3_000015 34/10200 22/6482 12/3718
1 c.343C>A r.(=) p.(=) g.152225755C>A Copied from the Exome Variant Server PNMA3_000016 2/10563 0/6728 2/3835
1 c.348C>T r.(=) p.(=) g.152225760C>T Copied from the Exome Variant Server PNMA3_000017 2/10563 2/6728 0/3835
1 c.350T>C r.(?) p.(Val117Ala) g.152225762T>C Copied from the Exome Variant Server PNMA3_000018 1/10563 0/6728 1/3835
1 c.367G>A r.(?) p.(Val123Ile) g.152225779G>A Copied from the Exome Variant Server PNMA3_000019 1/10563 1/6728 0/3835
1 c.373G>C r.(?) p.(Gly125Arg) g.152225785G>C Copied from the Exome Variant Server PNMA3_000020 1/10563 1/6728 0/3835
1 c.477G>A r.(?) p.(Met159Ile) g.152225889G>A Copied from the Exome Variant Server PNMA3_000021 3/10563 0/6728 3/3835
1 c.487G>A r.(?) p.(Glu163Lys) g.152225899G>A Copied from the Exome Variant Server PNMA3_000022 1/10563 1/6728 0/3835
1 c.518C>G r.(?) p.(Ser173Cys) g.152225930C>G Copied from the Exome Variant Server PNMA3_000023 2/10563 0/6728 2/3835
1 c.606G>T r.(?) p.(Arg202Ser) g.152226018G>T Copied from the Exome Variant Server PNMA3_000024 1/10563 1/6728 0/3835
1 c.720C>T r.(=) p.(=) g.152226132C>T Copied from the Exome Variant Server PNMA3_000025 1/10563 1/6728 0/3835
1 c.777G>A r.(=) p.(=) g.152226189G>A Copied from the Exome Variant Server PNMA3_000026 15/10563 12/6728 3/3835
1 c.856C>T r.(?) p.(Arg286Cys) g.152226268C>T Copied from the Exome Variant Server PNMA3_000027 2/10563 2/6728 0/3835
1 c.864C>T r.(=) p.(=) g.152226276C>T Copied from the Exome Variant Server PNMA3_000028 1/10563 1/6728 0/3835
1 c.865G>A r.(?) p.(Val289Met) g.152226277G>A Copied from the Exome Variant Server PNMA3_000029 18/10563 18/6728 0/3835
1 c.877C>T r.(?) p.(Arg293Cys) g.152226289C>T Copied from the Exome Variant Server PNMA3_000030 1/10563 0/6728 1/3835
1 c.915C>T r.(=) p.(=) g.152226327C>T Copied from the Exome Variant Server PNMA3_000031 1/10563 1/6728 0/3835
1 c.923G>A r.(?) p.(Arg308Gln) g.152226335G>A Copied from the Exome Variant Server PNMA3_000032 1/10563 0/6728 1/3835
1 c.958C>A r.(?) p.(Pro320Thr) g.152226370C>A Copied from the Exome Variant Server PNMA3_000033 2/10563 0/6728 2/3835
1 c.964G>A r.(?) p.(Gly322Ser) g.152226376G>A Copied from the Exome Variant Server PNMA3_000034 1/10563 1/6728 0/3835
1 c.1130T>C r.(?) p.(Val377Ala) g.152226542T>C Copied from the Exome Variant Server PNMA3_000035 9386/10560 5770/6727 3616/3833
1 c.1144G>A r.(?) p.(Gly382Ser) g.152226556G>A Copied from the Exome Variant Server PNMA3_000001 294/10562 1/6727 293/3835
1 c.1150C>T r.(?) p.(Arg384Trp) g.152226562C>T Copied from the Exome Variant Server PNMA3_000002 9/10563 9/6728 0/3835
1 c.1154G>A r.(?) p.(Arg385His) g.152226566G>A Copied from the Exome Variant Server PNMA3_000003 2/10563 1/6728 1/3835
1 c.1157G>A r.(?) p.(Arg386Gln) g.152226569G>A Copied from the Exome Variant Server PNMA3_000004 47/10563 0/6728 47/3835
1 c.1178G>A r.(?) p.(Arg393Gln) g.152226590G>A Copied from the Exome Variant Server PNMA3_000005 1/10563 0/6728 1/3835
1 c.1222C>T r.(?) p.(Arg408Trp) g.152226634C>T Copied from the Exome Variant Server PNMA3_000006 2/10563 2/6728 0/3835
1 c.1260C>T r.(=) p.(=) g.152226672C>T Copied from the Exome Variant Server PNMA3_000007 1/10563 1/6728 0/3835
1 c.1272G>C r.(?) p.(Arg424Ser) g.152226684G>C Copied from the Exome Variant Server PNMA3_000008 3/10563 3/6728 0/3835
1 c.1283T>C r.(?) p.(Ile428Thr) g.152226695T>C Copied from the Exome Variant Server PNMA3_000009 4/10563 0/6728 4/3835
1 c.1324G>C r.(?) p.(Ala442Pro) g.152226736G>C Copied from the Exome Variant Server PNMA3_000010 1/10563 0/6728 1/3835
1 c.*26C>G r.(=) p.(=) g.152226830C>G Copied from the Exome Variant Server PNMA3_000011 134/10563 0/6728 134/3835
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