Unique variants in gene MID1

Information The variants shown are described using the NM_000381.3 transcript reference sequence.

69 entries on 1 page. Showing entries 1 - 69.
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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.75C>T r.(=) p.(=) g.10535513G>A Copied from the Exome Variant Server MID1_000069 19/10563 19/6728 0/3835
1 c.157G>A r.(?) p.(Ala53Thr) g.10535431C>T Copied from the Exome Variant Server MID1_000068 1/10563 0/6728 1/3835
1 c.162C>T r.(=) p.(=) g.10535426G>A Copied from the Exome Variant Server MID1_000067 2/10563 0/6728 2/3835
1 c.229G>A r.(?) p.(Val77Ile) g.10535359C>T Copied from the Exome Variant Server MID1_000066 3/10563 2/6728 1/3835
1 c.250G>A r.(?) p.(Asp84Asn) g.10535338C>T Copied from the Exome Variant Server MID1_000065 1/10563 1/6728 0/3835
1 c.255G>T r.(?) p.(Arg85Ser) g.10535333C>A Copied from the Exome Variant Server MID1_000064 1/10563 0/6728 1/3835
1 c.285C>T r.(=) p.(=) g.10535303G>A Copied from the Exome Variant Server MID1_000063 1/10563 0/6728 1/3835
1 c.299C>A r.(?) p.(Thr100Asn) g.10535289G>T Copied from the Exome Variant Server MID1_000062 1/10563 0/6728 1/3835
1 c.302G>A r.(?) p.(Arg101His) g.10535286C>T Copied from the Exome Variant Server MID1_000061 3/10563 2/6728 1/3835
1 c.420C>G r.(=) p.(=) g.10535168G>C Copied from the Exome Variant Server MID1_000060 1/10563 1/6728 0/3835
1 c.430G>A r.(?) p.(Glu144Lys) g.10535158C>T Copied from the Exome Variant Server MID1_000059 2/10563 1/6728 1/3835
1 c.498G>A r.(=) p.(=) g.10535090C>T Copied from the Exome Variant Server MID1_000058 5/10563 1/6728 4/3835
1 c.552T>G r.(?) p.(Asn184Lys) g.10535036A>C Copied from the Exome Variant Server MID1_000057 1/10563 1/6728 0/3835
1 c.588C>G r.(=) p.(=) g.10535000G>C Copied from the Exome Variant Server MID1_000056 17/10563 17/6728 0/3835
1 c.628G>A r.(?) p.(Ala210Thr) g.10534960C>T Copied from the Exome Variant Server MID1_000055 1/10563 1/6728 0/3835
1 c.686A>G r.(?) p.(Asn229Ser) g.10491202T>C Copied from the Exome Variant Server MID1_000054 2/10563 0/6728 2/3835
1 c.757-18A>T r.(=) p.(=) g.10463749T>A Copied from the Exome Variant Server MID1_000053 1/10563 0/6728 1/3835
1 c.757-9A>G r.(=) p.(=) g.10463740T>C Copied from the Exome Variant Server MID1_000052 1/10563 0/6728 1/3835
1 c.757-6C>T r.(=) p.(=) g.10463737G>A Copied from the Exome Variant Server MID1_000051 1/10563 0/6728 1/3835
1 c.861G>A r.(=) p.(=) g.10463627C>T Copied from the Exome Variant Server MID1_000050 37/10563 1/6728 36/3835
1 c.864+29A>T r.(=) p.(=) g.10463595T>A Copied from the Exome Variant Server MID1_000049 1/10561 0/6728 1/3833
1 c.864+35T>C r.(=) p.(=) g.10463589A>G Copied from the Exome Variant Server MID1_000048 1/10561 1/6728 0/3833
1 c.864+40G>A r.(=) p.(=) g.10463584C>T Copied from the Exome Variant Server MID1_000047 5/10561 5/6728 0/3833
1 c.865-38C>A r.(=) p.(=) g.10450706G>T Copied from the Exome Variant Server MID1_000046 35/10563 0/6728 35/3835
1 c.879C>T r.(=) p.(=) g.10450654G>A Copied from the Exome Variant Server MID1_000045 1/10563 0/6728 1/3835
1 c.922C>T r.(?) p.(Arg308Trp) g.10450611G>A Copied from the Exome Variant Server MID1_000044 1/10563 0/6728 1/3835
1 c.1013+9A>C r.(=) p.(=) g.10450511T>G Copied from the Exome Variant Server MID1_000043 2/10563 0/6728 2/3835
1 c.1013+29C>T r.(=) p.(=) g.10450491G>A Copied from the Exome Variant Server MID1_000042 2/10563 2/6728 0/3835
1 c.1013+39G>C r.(=) p.(=) g.10450481C>G Copied from the Exome Variant Server MID1_000041 1/10563 0/6728 1/3835
1 c.1014-13G>T r.(=) p.(=) g.10442803C>A Copied from the Exome Variant Server MID1_000040 1/10563 1/6728 0/3835
1 c.1014-9G>C r.(=) p.(=) g.10442799C>G Copied from the Exome Variant Server MID1_000039 1/10563 0/6728 1/3835
1 c.1101C>T r.(=) p.(=) g.10442703G>A Copied from the Exome Variant Server MID1_000038 1/10563 1/6728 0/3835
1 c.1116G>A r.(=) p.(=) g.10442688C>T Copied from the Exome Variant Server MID1_000037 1/10563 0/6728 1/3835
1 c.1141+47_1141+48del r.(=) p.(=) g.10442615_10442616del Copied from the Exome Variant Server MID1_000035 21/10205 2/6484 19/3721
1 c.1141+47_1141+48dup r.(=) p.(=) g.10442615_10442616dup Copied from the Exome Variant Server MID1_000036 2/10205 1/6484 1/3721
1 c.1206T>C r.(=) p.(=) g.10437816A>G Copied from the Exome Variant Server MID1_000034 1/10563 1/6728 0/3835
1 c.1230C>T r.(=) p.(=) g.10437792G>A Copied from the Exome Variant Server MID1_000033 792/10563 97/6728 695/3835
1 c.1242C>T r.(=) p.(=) g.10437780G>A Copied from the Exome Variant Server MID1_000032 44/10563 1/6728 43/3835
1 c.1266C>T r.(=) p.(=) g.10437756G>A Copied from the Exome Variant Server MID1_000031 21/10563 21/6728 0/3835
1 c.1285+16C>T r.(=) p.(=) g.10437721G>A Copied from the Exome Variant Server MID1_000030 1/10563 0/6728 1/3835
1 c.1286-43C>T r.(=) p.(=) g.10427890G>A Copied from the Exome Variant Server MID1_000029 1/10563 0/6728 1/3835
1 c.1286-39_1286-37del r.(=) p.(=) g.10427884_10427886del Copied from the Exome Variant Server MID1_000028 1/10205 0/6484 1/3721
1 c.1299G>A r.(=) p.(=) g.10427834C>T Copied from the Exome Variant Server MID1_000027 45/10563 0/6728 45/3835
1 c.1346C>T r.(?) p.(Thr449Met) g.10427787G>A Copied from the Exome Variant Server MID1_000026 1/10563 1/6728 0/3835
1 c.1347G>A r.(=) p.(=) g.10427786C>T Copied from the Exome Variant Server MID1_000025 1/10563 0/6728 1/3835
1 c.1415G>A r.(?) p.(Arg472His) g.10427718C>T Copied from the Exome Variant Server MID1_000024 2/10563 0/6728 2/3835
1 c.1447+40T>C r.(=) p.(=) g.10427646A>G Copied from the Exome Variant Server MID1_000023 20/10563 18/6728 2/3835
1 c.1448-51_1448-47del r.(=) p.(=) g.10423164_10423168del Copied from the Exome Variant Server MID1_000022 3/10204 3/6483 0/3721
1 c.1448-33_1448-28del r.(=) p.(=) g.10423145_10423150del Copied from the Exome Variant Server MID1_000021 21/10205 16/6484 5/3721
1 c.1448-27_1448-22del r.(=) p.(=) g.10423139_10423144del Copied from the Exome Variant Server MID1_000020 16/10205 13/6484 3/3721
1 c.1480C>T r.(?) p.(His494Tyr) g.10423085G>A Copied from the Exome Variant Server MID1_000019 1/10563 1/6728 0/3835
1 c.1489C>T r.(=) p.(=) g.10423076G>A Copied from the Exome Variant Server MID1_000018 10/10563 9/6728 1/3835
1 c.1512G>C r.(?) p.(Leu504Phe) g.10423053C>G Copied from the Exome Variant Server MID1_000017 1/10563 1/6728 0/3835
1 c.1514C>G r.(?) p.(Thr505Arg) g.10423051G>C Copied from the Exome Variant Server MID1_000016 2/10563 2/6728 0/3835
1 c.1523G>A r.(?) p.(Arg508His) g.10423042C>T Copied from the Exome Variant Server MID1_000015 1/10563 0/6728 1/3835
1 c.1551C>T r.(=) p.(=) g.10423014G>A Copied from the Exome Variant Server MID1_000014 1/10563 1/6728 0/3835
1 c.1561C>T r.(?) p.(Arg521Cys) g.10423004G>A Copied from the Exome Variant Server MID1_000013 6/10563 6/6728 0/3835
1 c.1562G>T r.(?) p.(Arg521Leu) g.10423003C>A Copied from the Exome Variant Server MID1_000012 1/10563 1/6728 0/3835
1 c.1656-40A>G r.(=) p.(=) g.10417796T>C Copied from the Exome Variant Server MID1_000011 1/10563 1/6728 0/3835
1 c.1656-4G>A r.spl? p.? g.10417760C>T Copied from the Exome Variant Server MID1_000010 1/10563 1/6728 0/3835
1 c.1698A>G r.(=) p.(=) g.10417714T>C Copied from the Exome Variant Server MID1_000009 25/10563 0/6728 25/3835
1 c.1793C>T r.(?) p.(Ala598Val) g.10417619G>A Copied from the Exome Variant Server MID1_000008 2/10563 0/6728 2/3835
1 c.1854T>C r.(=) p.(=) g.10417558A>G Copied from the Exome Variant Server MID1_000007 1/10563 0/6728 1/3835
1 c.1888G>A r.(?) p.(Asp630Asn) g.10417524C>T Copied from the Exome Variant Server MID1_000006 1/10563 1/6728 0/3835
1 c.1966A>G r.(?) p.(Ile656Val) g.10417446T>C Copied from the Exome Variant Server MID1_000005 1/10563 1/6728 0/3835
1 c.1988C>T r.(?) p.(Thr663Ile) g.10417424G>A Copied from the Exome Variant Server MID1_000004 3/10563 3/6728 0/3835
1 c.2000C>T r.(?) p.(Pro667Leu) g.10417412G>A Copied from the Exome Variant Server MID1_000003 2/10561 0/6727 2/3834
1 c.*3G>A r.(=) p.(=) g.10417405C>T Copied from the Exome Variant Server MID1_000002 1/10561 0/6727 1/3834
1 c.*31G>A r.(=) p.(=) g.10417377C>T Copied from the Exome Variant Server MID1_000001 41/10556 0/6725 41/3831
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