Unique variants in gene AIFM1

Information The variants shown are described using the NM_001130846.2 transcript reference sequence.

59 entries on 1 page. Showing entries 1 - 59.
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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.-3568T>C r.(=) p.(=) g.129274639A>G Copied from the Exome Variant Server AIFM1_000059 1/10563 1/6728 0/3835
1 c.-3560C>A r.(=) p.(=) g.129274631G>T Copied from the Exome Variant Server AIFM1_000058 1/10563 1/6728 0/3835
1 c.-3527T>C r.(=) p.(=) g.129274598A>G Copied from the Exome Variant Server AIFM1_000057 1/10563 1/6728 0/3835
1 c.-3513G>T r.(=) p.(=) g.129274584C>A Copied from the Exome Variant Server AIFM1_000056 1/10563 0/6728 1/3835
1 c.-3494A>G r.(=) p.(=) g.129274565T>C Copied from the Exome Variant Server AIFM1_000055 2/10563 0/6728 2/3835
1 c.-2813C>A r.(=) p.(=) g.129273884G>T Copied from the Exome Variant Server AIFM1_000054 1/10563 1/6728 0/3835
1 c.-2805G>A r.(=) p.(=) g.129273876C>T Copied from the Exome Variant Server AIFM1_000053 2/10563 0/6728 2/3835
1 c.-2779C>A r.(=) p.(=) g.129273850G>T Copied from the Exome Variant Server AIFM1_000052 1/10563 0/6728 1/3835
1 c.-2756G>A r.(=) p.(=) g.129273827C>T Copied from the Exome Variant Server AIFM1_000051 1/10563 1/6728 0/3835
1 c.-2700A>G r.(=) p.(=) g.129273771T>C Copied from the Exome Variant Server AIFM1_000050 1/10563 1/6728 0/3835
1 c.-2667T>A r.(=) p.(=) g.129273738A>T Copied from the Exome Variant Server AIFM1_000049 1/10563 1/6728 0/3835
1 c.-2656A>T r.(=) p.(=) g.129273727T>A Copied from the Exome Variant Server AIFM1_000048 3/10563 0/6728 3/3835
1 c.-1651A>G r.(=) p.(=) g.129272722T>C Copied from the Exome Variant Server AIFM1_000047 18/10563 0/6728 18/3835
1 c.-1546C>T r.(=) p.(=) g.129272617G>A Copied from the Exome Variant Server AIFM1_000046 398/10563 23/6728 375/3835
1 c.-1516C>A r.(=) p.(=) g.129272587G>T Copied from the Exome Variant Server AIFM1_000044 6/10563 0/6728 6/3835
1 c.-1452A>G r.(=) p.(=) g.129272523T>C Copied from the Exome Variant Server AIFM1_000042 1/10563 1/6728 0/3835
1 c.-1449G>A r.(=) p.(=) g.129272520C>T Copied from the Exome Variant Server AIFM1_000040 379/10563 6/6728 373/3835
1 c.-61A>G r.(=) p.(=) g.129271132T>C Copied from the Exome Variant Server AIFM1_000038 379/10563 6/6728 373/3835
1 c.-52C>T r.(=) p.(=) g.129271123G>A Copied from the Exome Variant Server AIFM1_000045 1/10563 0/6728 1/3835
1 c.19+3A>G r.spl? p.? g.129271050T>C Copied from the Exome Variant Server AIFM1_000043 1/10563 1/6728 0/3835
1 c.19+4G>C r.spl? p.? g.129271049C>G Copied from the Exome Variant Server AIFM1_000041 1/10563 1/6728 0/3835
1 c.19+15T>C r.(=) p.(=) g.129271038A>G Copied from the Exome Variant Server AIFM1_000039 1/10563 0/6728 1/3835
1 c.19+18A>G r.(=) p.(=) g.129271035T>C Copied from the Exome Variant Server AIFM1_000037 2/10563 0/6728 2/3835
1 c.19+20A>G r.(=) p.(=) g.129271033T>C Copied from the Exome Variant Server AIFM1_000036 6/10563 0/6728 6/3835
1 c.20-33A>G r.(=) p.(=) g.129270739T>C Copied from the Exome Variant Server AIFM1_000035 1/10563 0/6728 1/3835
1 c.53A>G r.(?) p.(Gln18Arg) g.129270673T>C Copied from the Exome Variant Server AIFM1_000034 1/10563 1/6728 0/3835
1 c.109-35_109-34del r.(=) p.(=) g.129270194_129270195del Copied from the Exome Variant Server AIFM1_000033 1/10203 1/6482 0/3721
1 c.134_137del r.(?) p.(Ala45Glyfs*17) g.129270132_129270135del Copied from the Exome Variant Server AIFM1_000032 74/10203 52/6482 22/3721
1 c.171T>G r.(=) p.(=) g.129270098A>C Copied from the Exome Variant Server AIFM1_000031 34/10563 0/6728 34/3835
1 c.178C>T r.(=) p.(=) g.129270091G>A Copied from the Exome Variant Server AIFM1_000030 1/10563 1/6728 0/3835
1 c.249+33C>A r.(=) p.(=) g.129269987G>T Copied from the Exome Variant Server AIFM1_000029 1/10563 0/6728 1/3835
1 c.249+39C>T r.(=) p.(=) g.129269981G>A Copied from the Exome Variant Server AIFM1_000028 1/10563 0/6728 1/3835
1 c.249+40C>T r.(=) p.(=) g.129269980G>A Copied from the Exome Variant Server AIFM1_000027 5153/10563 2667/6728 2486/3835
1 c.250-36_250-35insTT r.(=) p.(=) g.129267465_129267466insAA Copied from the Exome Variant Server AIFM1_000026 95/10197 66/6482 29/3715
1 c.250-35del r.(=) p.(=) g.129267465del Copied from the Exome Variant Server AIFM1_000025 1809/10197 1197/6482 612/3715
1 c.250-35dup r.(=) p.(=) g.129267465dup Copied from the Exome Variant Server AIFM1_000024 568/10197 397/6482 171/3715
1 c.250-34_250-33insA r.(=) p.(=) g.129267463_129267464insT Copied from the Exome Variant Server AIFM1_000023 12/10202 12/6483 0/3719
1 c.273C>T r.(=) p.(=) g.129267407G>A Copied from the Exome Variant Server AIFM1_000022 19/10563 18/6728 1/3835
1 c.360T>C r.(=) p.(=) g.129267320A>G Copied from the Exome Variant Server AIFM1_000021 31/10563 0/6728 31/3835
1 c.369G>A r.(=) p.(=) g.129267311C>T Copied from the Exome Variant Server AIFM1_000019 1/10563 0/6728 1/3835
1 c.392+14G>C r.(=) p.(=) g.129267274C>G Copied from the Exome Variant Server AIFM1_000017 1/10563 1/6728 0/3835
1 c.393-50G>A r.(=) p.(=) g.129265824C>T Copied from the Exome Variant Server AIFM1_000015 1/10563 0/6728 1/3835
1 c.393-48del r.(=) p.(=) g.129265822del Copied from the Exome Variant Server AIFM1_000013 2/10205 0/6484 2/3721
1 c.393-5_393-3del r.spl? p.? g.129265777_129265779del Copied from the Exome Variant Server AIFM1_000020 3/10205 3/6484 0/3721
1 c.408C>T r.(=) p.(=) g.129265759G>A Copied from the Exome Variant Server AIFM1_000018 1/10563 0/6728 1/3835
1 c.453C>T r.(=) p.(=) g.129265714G>A Copied from the Exome Variant Server AIFM1_000016 1/10563 1/6728 0/3835
1 c.478A>G r.(?) p.(Thr160Ala) g.129265689T>C Copied from the Exome Variant Server AIFM1_000014 1/10563 0/6728 1/3835
1 c.487G>A r.(?) p.(Asp163Asn) g.129265680C>T Copied from the Exome Variant Server AIFM1_000012 8/10563 0/6728 8/3835
1 c.537G>A r.(=) p.(=) g.129264122C>T Copied from the Exome Variant Server AIFM1_000011 1/10563 1/6728 0/3835
1 c.577C>T r.(?) p.(Pro193Ser) g.129264082G>A Copied from the Exome Variant Server AIFM1_000010 3/10563 0/6728 3/3835
1 c.588G>A r.(=) p.(=) g.129264071C>T Copied from the Exome Variant Server AIFM1_000009 3/10563 2/6728 1/3835
1 c.652G>A r.(?) p.(Asp218Asn) g.129264007C>T Copied from the Exome Variant Server AIFM1_000008 1/10563 1/6728 0/3835
1 c.714+41C>T r.(=) p.(=) g.129263904G>A Copied from the Exome Variant Server AIFM1_000007 1/10563 1/6728 0/3835
1 c.714+44C>T r.(=) p.(=) g.129263901G>A Copied from the Exome Variant Server AIFM1_000006 1/10563 0/6728 1/3835
1 c.715-27G>A r.(=) p.(=) g.129263630C>T Copied from the Exome Variant Server AIFM1_000005 2/10563 0/6728 2/3835
1 c.715-22A>G r.(=) p.(=) g.129263625T>C Copied from the Exome Variant Server AIFM1_000004 21/10563 19/6728 2/3835
1 c.726C>T r.(=) p.(=) g.129263592G>A Copied from the Exome Variant Server AIFM1_000003 1/10563 0/6728 1/3835
1 c.749A>G r.(?) p.(Asn250Ser) g.129263569T>C Copied from the Exome Variant Server AIFM1_000002 1/10563 1/6728 0/3835
1 c.777T>C r.(=) p.(=) g.129263541A>G Copied from the Exome Variant Server AIFM1_000001 82/10563 0/6728 82/3835
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