Unique variants in gene MSMB

Information The variants shown are described using the NM_002443.3 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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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.-26G>A r.(=) p.(=) g.51549559G>A Copied from the Exome Variant Server MSMB_000007 1/13006 1/8600 0/4406
1 c.3+80A>G r.(=) p.(=) g.51549667A>G Copied from the Exome Variant Server MSMB_000001 32/4566 1/3182 31/1384
1 c.4-21T>C r.(=) p.(=) g.51555710T>C Copied from the Exome Variant Server MSMB_000002 3/13006 1/8600 2/4406
1 c.22G>A r.(?) p.(Val8Ile) g.51555749G>A Copied from the Exome Variant Server MSMB_000003 1/13006 1/8600 0/4406
1 c.42C>T r.(=) p.(=) g.51555769C>T Copied from the Exome Variant Server MSMB_000004 2/13006 2/8600 0/4406
1 c.63A>C r.(=) p.(=) g.51555790A>C Copied from the Exome Variant Server MSMB_000005 7/13006 6/8600 1/4406
1 c.80A>G r.(?) p.(Asn27Ser) g.51555807A>G Copied from the Exome Variant Server MSMB_000006 3/13006 3/8600 0/4406
1 c.115A>G r.(?) p.(Met39Val) g.51556756A>G Copied from the Exome Variant Server MSMB_000008 1/13006 1/8600 0/4406
1 c.118G>T r.(?) p.(Asp40Tyr) g.51556759G>T Copied from the Exome Variant Server MSMB_000009 1/13006 1/8600 0/4406
1 c.190G>A r.(?) p.(Glu64Lys) g.51556831G>A Copied from the Exome Variant Server MSMB_000010 9/13006 0/8600 9/4406
1 c.215+5G>A r.spl? p.? g.51556861G>A Copied from the Exome Variant Server MSMB_000011 1/13006 0/8600 1/4406
1 c.215+29G>A r.(=) p.(=) g.51556885G>A Copied from the Exome Variant Server MSMB_000012 2/13006 0/8600 2/4406
1 c.215+47C>T r.(=) p.(=) g.51556903C>T Copied from the Exome Variant Server MSMB_000013 1/13006 1/8600 0/4406
1 c.216-47C>T r.(=) p.(=) g.51562224C>T Copied from the Exome Variant Server MSMB_000014 1/13006 1/8600 0/4406
1 c.216-33del r.(=) p.(=) g.51562238del Copied from the Exome Variant Server MSMB_000015 2/12518 0/8254 2/4264
1 c.216-3_216-2insA r.spl? p.? g.51562268_51562269insA Copied from the Exome Variant Server MSMB_000016 1/12518 1/8254 0/4264
1 c.342C>G r.(?) p.(Ile114Met) g.51562397C>G Copied from the Exome Variant Server MSMB_000017 1/13006 1/8600 0/4406
1 c.*10A>G r.(=) p.(=) g.51562410A>G Copied from the Exome Variant Server MSMB_000018 1/13006 1/8600 0/4406
1 c.*22G>T r.(=) p.(=) g.51562422G>T Copied from the Exome Variant Server MSMB_000019 5/13006 4/8600 1/4406
1 c.*36C>T r.(=) p.(=) g.51562436C>T Copied from the Exome Variant Server MSMB_000020 1/13006 1/8600 0/4406
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