All transcript variants in gene COMMD10

Information The variants shown are described using the NM_016144.2 transcript reference sequence.

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

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.41+43G>C r.(=) p.(=) g.115420833G>C Copied from the Exome Variant Server COMMD10_000001 1/12990 1/8594 0/4396
?/? c.42-55G>C r.(=) p.(=) g.115423139G>C Copied from the Exome Variant Server COMMD10_000002 4/4566 1/3182 3/1384
?/? c.42-40G>C r.(=) p.(=) g.115423154G>C Copied from the Exome Variant Server COMMD10_000003 283/13004 5/8600 278/4404
?/? c.76G>T r.(?) p.(Asp26Tyr) g.115423228G>T Copied from the Exome Variant Server COMMD10_000004 1/13004 0/8600 1/4404
?/? c.81A>C r.(=) p.(=) g.115423233A>C Copied from the Exome Variant Server COMMD10_000005 1/13004 0/8600 1/4404
?/? c.102C>G r.(=) p.(=) g.115423254C>G Copied from the Exome Variant Server COMMD10_000006 1/13004 0/8600 1/4404
?/? c.130A>G r.(?) p.(Lys44Glu) g.115423282A>G Copied from the Exome Variant Server COMMD10_000007 2/13004 0/8600 2/4404
?/? c.132+15G>A r.(=) p.(=) g.115423299G>A Copied from the Exome Variant Server COMMD10_000008 69/13004 27/8600 42/4404
?/? c.132+18T>G r.(=) p.(=) g.115423302T>G Copied from the Exome Variant Server COMMD10_000009 1/13004 1/8600 0/4404
?/? c.132+37C>T r.(=) p.(=) g.115423321C>T Copied from the Exome Variant Server COMMD10_000010 1/13002 0/8600 1/4402
?/? c.133-43C>T r.(=) p.(=) g.115426733C>T Copied from the Exome Variant Server COMMD10_000011 1/12980 1/8584 0/4396
?/? c.133-30T>C r.(=) p.(=) g.115426746T>C Copied from the Exome Variant Server COMMD10_000012 6682/12984 5558/8584 1124/4400
?/? c.133-21A>C r.(=) p.(=) g.115426755A>C Copied from the Exome Variant Server COMMD10_000013 28/12984 0/8586 28/4398
?/? c.133-12T>C r.(=) p.(=) g.115426764T>C Copied from the Exome Variant Server COMMD10_000014 1/12988 1/8586 0/4402
?/? c.171T>G r.(=) p.(=) g.115426814T>G Copied from the Exome Variant Server COMMD10_000015 8/12994 0/8590 8/4404
?/? c.176C>T r.(?) p.(Ala59Val) g.115426819C>T Copied from the Exome Variant Server COMMD10_000016 2/12996 1/8592 1/4404
?/? c.189A>G r.(=) p.(=) g.115426832A>G Copied from the Exome Variant Server COMMD10_000017 273/12994 0/8592 273/4402
?/? c.200A>T r.(?) p.(Asp67Val) g.115426843A>T Copied from the Exome Variant Server COMMD10_000018 2/12994 0/8592 2/4402
?/? c.243+46A>G r.(=) p.(=) g.115426932A>G Copied from the Exome Variant Server COMMD10_000019 802/12890 312/8548 490/4342
?/? c.305G>C r.(?) p.(Arg102Thr) g.115428303G>C Copied from the Exome Variant Server COMMD10_000020 2/13004 0/8600 2/4404
?/? c.312C>G r.(?) p.(Asp104Glu) g.115428310C>G Copied from the Exome Variant Server COMMD10_000021 4/13004 0/8600 4/4404
?/? c.314A>G r.(?) p.(Lys105Arg) g.115428312A>G Copied from the Exome Variant Server COMMD10_000022 1/13004 0/8600 1/4404
?/? c.336G>T r.(=) p.(=) g.115428334G>T Copied from the Exome Variant Server COMMD10_000023 6661/13004 5535/8600 1126/4404
?/? c.383T>G r.(?) p.(Ile128Ser) g.115428381T>G Copied from the Exome Variant Server COMMD10_000024 1496/13004 527/8600 969/4404
?/? c.399+16T>A r.(=) p.(=) g.115428413T>A Copied from the Exome Variant Server COMMD10_000025 160/13004 0/8600 160/4404
?/? c.399+42T>A r.(=) p.(=) g.115428439T>A Copied from the Exome Variant Server COMMD10_000026 6632/12986 5515/8590 1117/4396
?/? c.399+47T>C r.(=) p.(=) g.115428444T>C Copied from the Exome Variant Server COMMD10_000027 1419/12968 765/8586 654/4382
?/? c.400-30C>A r.(=) p.(=) g.115469735C>A Copied from the Exome Variant Server COMMD10_000028 1/13004 1/8600 0/4404
?/? c.408C>T r.(=) p.(=) g.115469773C>T Copied from the Exome Variant Server COMMD10_000029 6522/13004 5526/8600 996/4404
?/? c.409G>A r.(?) p.(Val137Ile) g.115469774G>A Copied from the Exome Variant Server COMMD10_000030 2/13004 0/8600 2/4404
?/? c.424A>G r.(?) p.(Asn142Asp) g.115469789A>G Copied from the Exome Variant Server COMMD10_000031 3/13004 3/8600 0/4404
?/? c.460A>C r.(?) p.(Lys154Gln) g.115469825A>C Copied from the Exome Variant Server COMMD10_000032 22/13004 0/8600 22/4404
?/? c.477G>A r.(=) p.(=) g.115469842G>A Copied from the Exome Variant Server COMMD10_000033 41/13004 36/8600 5/4404
?/? c.486C>T r.(=) p.(=) g.115469851C>T Copied from the Exome Variant Server COMMD10_000034 1/13004 1/8600 0/4404
?/? c.498T>G r.(?) p.(Asn166Lys) g.115469863T>G Copied from the Exome Variant Server COMMD10_000035 1/13004 0/8600 1/4404
?/? c.510+8A>G r.(=) p.(=) g.115469883A>G Copied from the Exome Variant Server COMMD10_000036 1/13004 1/8600 0/4404
?/? c.510+15del r.(=) p.(=) g.115469890del Copied from the Exome Variant Server COMMD10_000037 2/12516 0/8252 2/4264
?/? c.510+17C>G r.(=) p.(=) g.115469892C>G Copied from the Exome Variant Server COMMD10_000038 1/13004 1/8600 0/4404
?/? c.511-23T>C r.(=) p.(=) g.115627191T>C Copied from the Exome Variant Server COMMD10_000039 1/13002 1/8600 0/4402
?/? c.511-8C>T r.(=) p.(=) g.115627206C>T Copied from the Exome Variant Server COMMD10_000040 4/13002 0/8600 4/4402
?/? c.550_553del r.(?) p.(Phe185Ilefs*6) g.115627253_115627256del Copied from the Exome Variant Server COMMD10_000041 1/12516 0/8254 1/4262
?/? c.570+3C>G r.spl? p.? g.115627276C>G Copied from the Exome Variant Server COMMD10_000042 1/13002 1/8600 0/4402
?/? c.570+37del r.(=) p.(=) g.115627310del Copied from the Exome Variant Server COMMD10_000043 72/12418 62/8210 10/4208
?/? c.570+46T>C r.(=) p.(=) g.115627319T>C Copied from the Exome Variant Server COMMD10_000044 650/12886 6/8548 644/4338
?/? c.571-45G>A r.(=) p.(=) g.115628103G>A Copied from the Exome Variant Server COMMD10_000045 1/13004 1/8600 0/4404
?/? c.571-31C>T r.(=) p.(=) g.115628117C>T Copied from the Exome Variant Server COMMD10_000046 1715/13004 1023/8600 692/4404
?/? c.571-15_571-14del r.(=) p.(=) g.115628133_115628134del Copied from the Exome Variant Server COMMD10_000047 1986/12518 1209/8254 777/4264
?/? c.571-8G>C r.(=) p.(=) g.115628140G>C Copied from the Exome Variant Server COMMD10_000048 1/13004 1/8600 0/4404
?/? c.575A>G r.(?) p.(Glu192Gly) g.115628152A>G Copied from the Exome Variant Server COMMD10_000049 1/13004 0/8600 1/4404
?/? c.580A>G r.(?) p.(Ile194Val) g.115628157A>G Copied from the Exome Variant Server COMMD10_000050 1/13004 1/8600 0/4404
?/? c.*24A>C r.(=) p.(=) g.115628210A>C Copied from the Exome Variant Server COMMD10_000051 1/13004 1/8600 0/4404
?/? c.*28C>T r.(=) p.(=) g.115628214C>T Copied from the Exome Variant Server COMMD10_000052 1/13004 1/8600 0/4404
?/? c.*51G>T r.(=) p.(=) g.115628237G>T Copied from the Exome Variant Server COMMD10_000053 84/13004 74/8600 10/4404
?/? c.*56G>C r.(=) p.(=) g.115628242G>C Copied from the Exome Variant Server COMMD10_000054 10/4566 0/3182 10/1384
?/? c.*67G>T r.(=) p.(=) g.115628253G>T Copied from the Exome Variant Server COMMD10_000055 15/4566 13/3182 2/1384
?/? c.*82C>G r.(=) p.(=) g.115628268C>G Copied from the Exome Variant Server COMMD10_000056 1/4566 1/3182 0/1384
Legend