All transcript variants in gene MEN1

Information The variants shown are described using the NM_000244.3 transcript reference sequence.

72 entries on 1 page. Showing entries 1 - 72.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-22C>A r.(=) p.(=) g.64577603G>T Copied from the Exome Variant Server MEN1_000072 7/11176 6/7382 1/3794
?/? c.30G>T r.(=) p.(=) g.64577552C>A Copied from the Exome Variant Server MEN1_000071 2/12580 2/8298 0/4282
?/? c.189C>G r.(?) p.(Phe63Leu) g.64577393G>C Copied from the Exome Variant Server MEN1_000070 1/12914 0/8558 1/4356
?/? c.210C>A r.(?) p.(Asp70Glu) g.64577372G>T Copied from the Exome Variant Server MEN1_000069 2/12924 0/8562 2/4362
?/? c.275G>A r.(?) p.(Arg92His) g.64577307C>T Copied from the Exome Variant Server MEN1_000068 1/12996 1/8594 0/4402
?/? c.411G>C r.(=) p.(=) g.64577171C>G Copied from the Exome Variant Server MEN1_000066 1/12996 1/8594 0/4402
?/? c.435C>T r.(=) p.(=) g.64577147G>A Copied from the Exome Variant Server MEN1_000064 343/12996 306/8594 37/4402
?/? c.461-12C>G r.(=) p.(=) g.64575583G>C Copied from the Exome Variant Server MEN1_000062 1/12992 1/8590 0/4402
?/? c.461-3C>A r.spl? p.? g.64575574G>T Copied from the Exome Variant Server MEN1_000060 1/12994 0/8592 1/4402
?/? c.507C>T r.(=) p.(=) g.64575525G>A Copied from the Exome Variant Server MEN1_000058 1/12996 1/8594 0/4402
?/? c.526C>T r.(?) p.(Arg176Trp) g.64575506G>A Copied from the Exome Variant Server MEN1_000067 4/12996 2/8594 2/4402
?/? c.527G>A r.(?) p.(Arg176Gln) g.64575505C>T Copied from the Exome Variant Server MEN1_000065 200/12996 180/8594 20/4402
?/? c.540C>T r.(=) p.(=) g.64575492G>A Copied from the Exome Variant Server MEN1_000063 2/12996 2/8594 0/4402
?/? c.541G>T r.(?) p.(Ala181Ser) g.64575491C>A Copied from the Exome Variant Server MEN1_000061 1/12996 1/8594 0/4402
?/? c.546G>A r.(=) p.(=) g.64575486C>T Copied from the Exome Variant Server MEN1_000059 1/12996 1/8594 0/4402
?/? c.578C>T r.(?) p.(Pro193Leu) g.64575454G>A Copied from the Exome Variant Server MEN1_000057 2/12996 2/8594 0/4402
?/? c.612C>T r.(=) p.(=) g.64575420G>A Copied from the Exome Variant Server MEN1_000056 22/12996 0/8594 22/4402
?/? c.670-32C>G r.(=) p.(=) g.64575184G>C Copied from the Exome Variant Server MEN1_000055 1/12996 0/8594 1/4402
?/? c.670-6C>T r.(=) p.(=) g.64575158G>A Copied from the Exome Variant Server MEN1_000054 71/12996 8/8594 63/4402
?/? c.726G>A r.(=) p.(=) g.64575096C>T Copied from the Exome Variant Server MEN1_000053 1/12996 0/8594 1/4402
?/? c.777G>A r.(=) p.(=) g.64575045C>T Copied from the Exome Variant Server MEN1_000052 1/12996 0/8594 1/4402
?/? c.789G>C r.(?) p.(Gln263His) g.64575033C>G Copied from the Exome Variant Server MEN1_000051 1/12996 0/8594 1/4402
?/? c.798+41A>T r.(=) p.(=) g.64574983T>A Copied from the Exome Variant Server MEN1_000050 1/12996 0/8594 1/4402
?/? c.799-48G>A r.(=) p.(=) g.64574739C>T Copied from the Exome Variant Server MEN1_000049 1/12996 1/8594 0/4402
?/? c.799-28G>C r.(=) p.(=) g.64574719C>G Copied from the Exome Variant Server MEN1_000048 1/12996 1/8594 0/4402
?/? c.799-15_799-14del r.(=) p.(=) g.64574705_64574706del Copied from the Exome Variant Server MEN1_000047 6/12518 5/8254 1/4264
?/? c.799-10C>T r.(=) p.(=) g.64574701G>A Copied from the Exome Variant Server MEN1_000046 1/12996 1/8594 0/4402
?/? c.823C>T r.(=) p.(=) g.64574667G>A Copied from the Exome Variant Server MEN1_000045 1/12996 0/8594 1/4402
?/? c.829C>T r.(?) p.(His277Tyr) g.64574661G>A Copied from the Exome Variant Server MEN1_000044 1/12996 1/8594 0/4402
?/? c.839+16T>A r.(=) p.(=) g.64574635A>T Copied from the Exome Variant Server MEN1_000043 1/12996 0/8594 1/4402
?/? c.839+27C>T r.(=) p.(=) g.64574624G>A Copied from the Exome Variant Server MEN1_000042 4/12996 0/8594 4/4402
?/? c.839+31T>C r.(=) p.(=) g.64574620A>G Copied from the Exome Variant Server MEN1_000041 6/12996 6/8594 0/4402
?/? c.839+39C>T r.(=) p.(=) g.64574612G>A Copied from the Exome Variant Server MEN1_000040 1/12996 0/8594 1/4402
?/? c.840-40G>A r.(=) p.(=) g.64574610C>T Copied from the Exome Variant Server MEN1_000039 2/12996 1/8594 1/4402
?/? c.840-11T>C r.(=) p.(=) g.64574581A>G Copied from the Exome Variant Server MEN1_000038 1/12996 0/8594 1/4402
?/? c.854T>C r.(?) p.(Leu285Ser) g.64574556A>G Copied from the Exome Variant Server MEN1_000037 1/12996 0/8594 1/4402
?/? c.923A>G r.(?) p.(His308Arg) g.64574487T>C Copied from the Exome Variant Server MEN1_000036 1/12996 0/8594 1/4402
?/? c.927+47T>A r.(=) p.(=) g.64574436A>T Copied from the Exome Variant Server MEN1_000035 4/12996 0/8594 4/4402
?/? c.927+48G>A r.(=) p.(=) g.64574435C>T Copied from the Exome Variant Server MEN1_000034 1/12996 0/8594 1/4402
?/? c.928-8C>T r.(=) p.(=) g.64573848G>A Copied from the Exome Variant Server MEN1_000033 2/12996 0/8594 2/4402
?/? c.955C>T r.(?) p.(Arg319Trp) g.64573813G>A Copied from the Exome Variant Server MEN1_000032 1/12996 1/8594 0/4402
?/? c.989C>T r.(?) p.(Ala330Val) g.64573779G>A Copied from the Exome Variant Server MEN1_000031 1/12996 1/8594 0/4402
?/? c.995A>G r.(?) p.(Tyr332Cys) g.64573773T>C Copied from the Exome Variant Server MEN1_000030 1/12996 1/8594 0/4402
?/? c.1004G>A r.(?) p.(Arg335His) g.64573764C>T Copied from the Exome Variant Server MEN1_000029 1/12996 1/8594 0/4402
?/? c.1008C>T r.(=) p.(=) g.64573760G>A Copied from the Exome Variant Server MEN1_000028 1/12996 1/8594 0/4402
?/? c.1040C>T r.(?) p.(Ala347Val) g.64573728G>A Copied from the Exome Variant Server MEN1_000027 1/12996 1/8594 0/4402
?/? c.1064+9C>T r.(=) p.(=) g.64573695G>A Copied from the Exome Variant Server MEN1_000026 11/12996 11/8594 0/4402
?/? c.1064+23C>T r.(=) p.(=) g.64573681G>A Copied from the Exome Variant Server MEN1_000025 1/12996 1/8594 0/4402
?/? c.1064+42C>A r.(=) p.(=) g.64573662G>T Copied from the Exome Variant Server MEN1_000024 1/12996 1/8594 0/4402
?/? c.1065-49del r.(=) p.(=) g.64573291del Copied from the Exome Variant Server MEN1_000023 3/12518 2/8254 1/4264
?/? c.1075T>C r.(?) p.(Cys359Arg) g.64573232A>G Copied from the Exome Variant Server MEN1_000022 1/12996 1/8594 0/4402
?/? c.1086C>T r.(=) p.(=) g.64573221G>A Copied from the Exome Variant Server MEN1_000021 1/12996 1/8594 0/4402
?/? c.1095C>T r.(=) p.(=) g.64573212G>A Copied from the Exome Variant Server MEN1_000020 2/12996 2/8594 0/4402
?/? c.1170G>A r.(=) p.(=) g.64573137C>T Copied from the Exome Variant Server MEN1_000018 1/12996 1/8594 0/4402
?/? c.1200+12G>A r.(=) p.(=) g.64573095C>T Copied from the Exome Variant Server MEN1_000016 2/12994 2/8592 0/4402
?/? c.1200+33C>T r.(=) p.(=) g.64573074G>A Copied from the Exome Variant Server MEN1_000014 1/12970 1/8570 0/4400
?/? c.1200+35C>G r.(=) p.(=) g.64573072G>C Copied from the Exome Variant Server MEN1_000013 1/12960 1/8566 0/4394
?/? c.1269C>T r.(=) p.(=) g.64572602G>A Copied from the Exome Variant Server MEN1_000011 3951/12996 3552/8594 399/4402
?/? c.1302G>A r.(=) p.(=) g.64572569C>T Copied from the Exome Variant Server MEN1_000009 1/12996 0/8594 1/4402
?/? c.1311G>A r.(=) p.(=) g.64572560C>T Copied from the Exome Variant Server MEN1_000006 17/12996 15/8594 2/4402
?/? c.1314T>C N/A N/A g.64572557A>G Copied from the Exome Variant Server MEN1_000019 12686/12996 8591/8594 4095/4402
?/? c.1359G>C r.(?) p.(Glu453Asp) g.64572512C>G Copied from the Exome Variant Server MEN1_000017 1/12996 1/8594 0/4402
?/? c.1366-42G>A r.(=) p.(=) g.64572330C>T Copied from the Exome Variant Server MEN1_000015 1/12432 1/8256 0/4176
?/? c.1382G>A r.(?) p.(Arg461His) g.64572272C>T Copied from the Exome Variant Server MEN1_000012 1/12078 1/8042 0/4036
?/? c.1550C>T r.(?) p.(Ser517Leu) g.64572104G>A Copied from the Exome Variant Server MEN1_000010 5/12962 0/8570 5/4392
?/? c.1636A>G N/A N/A g.64572018T>C Copied from the Exome Variant Server MEN1_000008 11806/12996 8559/8594 3247/4402
?/? c.1671T>C r.(=) p.(=) g.64571983A>G Copied from the Exome Variant Server MEN1_000007 1/12996 1/8594 0/4402
?/? c.1707G>T r.(=) p.(=) g.64571947C>A Copied from the Exome Variant Server MEN1_000005 1/12996 0/8594 1/4402
?/? c.1779G>A r.(=) p.(=) g.64571875C>T Copied from the Exome Variant Server MEN1_000004 1/12996 1/8594 0/4402
?/? c.1815G>T r.(=) p.(=) g.64571839C>A Copied from the Exome Variant Server MEN1_000003 1/12996 0/8594 1/4402
?/? c.*16G>A r.(=) p.(=) g.64571790C>T Copied from the Exome Variant Server MEN1_000002 6/12996 0/8594 6/4402
?/? c.*34del r.(=) p.(=) g.64571772del Copied from the Exome Variant Server MEN1_000001 4/12518 2/8254 2/4264
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