Full data view for gene MTMR1

Information The variants shown are described using the NM_003828.2 transcript reference sequence.

68 entries on 1 page. Showing entries 1 - 68.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.147-28G>A r.(=) p.(=) g.149867640G>A Copied from the Exome Variant Server MTMR1_000047 20/10563 0/6728 20/3835 - - - - - - -
?/? c.147-11_147-10insT r.(=) p.(=) g.149867657_149867658insT Copied from the Exome Variant Server MTMR1_000048 1/10205 1/6484 0/3721 - - - - - - -
?/? c.253-42del r.(=) p.(=) g.149887055del Copied from the Exome Variant Server MTMR1_000049 10084/10105 6424/6436 3660/3669 - - - - - - -
?/? c.291G>C r.(?) p.(Glu97Asp) g.149887135G>C Copied from the Exome Variant Server MTMR1_000050 1/10563 0/6728 1/3835 - - - - - - -
?/? c.328+14G>A r.(=) p.(=) g.149887186G>A Copied from the Exome Variant Server MTMR1_000051 1/10563 1/6728 0/3835 - - - - - - -
?/? c.329-36A>G r.(=) p.(=) g.149895651A>G Copied from the Exome Variant Server MTMR1_000052 1/10563 1/6728 0/3835 - - - - - - -
?/? c.329-23C>A r.(=) p.(=) g.149895664C>A Copied from the Exome Variant Server MTMR1_000053 1/10563 1/6728 0/3835 - - - - - - -
?/? c.332A>G r.(?) p.(Lys111Arg) g.149895690A>G Copied from the Exome Variant Server MTMR1_000054 1/10563 0/6728 1/3835 - - - - - - -
?/? c.342G>A r.(?) p.(Met114Ile) g.149895700G>A Copied from the Exome Variant Server MTMR1_000055 1/10563 1/6728 0/3835 - - - - - - -
?/? c.417C>T r.(=) p.(=) g.149895775C>T Copied from the Exome Variant Server MTMR1_000056 1/10563 0/6728 1/3835 - - - - - - -
?/? c.424-25C>T r.(=) p.(=) g.149896131C>T Copied from the Exome Variant Server MTMR1_000057 2/10563 1/6728 1/3835 - - - - - - -
?/? c.436A>G r.(?) p.(Ile146Val) g.149896168A>G Copied from the Exome Variant Server MTMR1_000058 64/10563 1/6728 63/3835 - - - - - - -
?/? c.531+49A>G r.(=) p.(=) g.149896312A>G Copied from the Exome Variant Server MTMR1_000001 6/10561 0/6726 6/3835 - - - - - - -
?/? c.532-23G>A r.(=) p.(=) g.149898558G>A Copied from the Exome Variant Server MTMR1_000002 1/10563 1/6728 0/3835 - - - - - - -
?/? c.532-17T>C r.(=) p.(=) g.149898564T>C Copied from the Exome Variant Server MTMR1_000003 1/10563 1/6728 0/3835 - - - - - - -
?/? c.627C>T r.(=) p.(=) g.149898676C>T Copied from the Exome Variant Server MTMR1_000004 2/10563 0/6728 2/3835 - - - - - - -
?/? c.633+9A>C r.(=) p.(=) g.149898691A>C Copied from the Exome Variant Server MTMR1_000005 1/10563 0/6728 1/3835 - - - - - - -
?/? c.633+32G>A r.(=) p.(=) g.149898714G>A Copied from the Exome Variant Server MTMR1_000006 10/10563 10/6728 0/3835 - - - - - - -
?/? c.670A>G r.(?) p.(Ile224Val) g.149899033A>G Copied from the Exome Variant Server MTMR1_000007 1/10558 0/6723 1/3835 - - - - - - -
?/? c.682A>C r.(?) p.(Lys228Gln) g.149899045A>C Copied from the Exome Variant Server MTMR1_000008 3/10554 0/6721 3/3833 - - - - - - -
?/? c.699A>G r.(=) p.(=) g.149899062A>G Copied from the Exome Variant Server MTMR1_000009 1/10546 0/6715 1/3831 - - - - - - -
?/? c.718-49T>C r.(=) p.(=) g.149899893T>C Copied from the Exome Variant Server MTMR1_000010 1/10559 0/6728 1/3831 - - - - - - -
?/? c.768G>A r.(=) p.(=) g.149899992G>A Copied from the Exome Variant Server MTMR1_000011 11/10563 0/6728 11/3835 - - - - - - -
?/? c.838G>T r.(?) p.(Ala280Ser) g.149900062G>T Copied from the Exome Variant Server MTMR1_000012 1/10563 1/6728 0/3835 - - - - - - -
?/? c.851C>T r.(?) p.(Ala284Val) g.149900075C>T Copied from the Exome Variant Server MTMR1_000013 1/10563 1/6728 0/3835 - - - - - - -
?/? c.867+42C>T r.(=) p.(=) g.149900133C>T Copied from the Exome Variant Server MTMR1_000014 1/10560 0/6725 1/3835 - - - - - - -
?/? c.868-23T>C r.(=) p.(=) g.149900991T>C Copied from the Exome Variant Server MTMR1_000015 1/10561 0/6726 1/3835 - - - - - - -
?/? c.947G>T r.(?) p.(Arg316Leu) g.149901093G>T Copied from the Exome Variant Server MTMR1_000016 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1041C>A r.(=) p.(=) g.149901187C>A Copied from the Exome Variant Server MTMR1_000017 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1056+48G>A r.(=) p.(=) g.149901250G>A Copied from the Exome Variant Server MTMR1_000018 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1057-4G>A r.spl? p.? g.149905063G>A Copied from the Exome Variant Server MTMR1_000019 64/10563 60/6728 4/3835 - - - - - - -
?/? c.1123C>T r.(?) p.(His375Tyr) g.149905133C>T Copied from the Exome Variant Server MTMR1_000020 5/10563 0/6728 5/3835 - - - - - - -
?/? c.1141C>A r.(=) p.(=) g.149905151C>A Copied from the Exome Variant Server MTMR1_000021 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1154G>T r.(?) p.(Arg385Leu) g.149905164G>T Copied from the Exome Variant Server MTMR1_000022 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1194G>A r.(=) p.(=) g.149905204G>A Copied from the Exome Variant Server MTMR1_000023 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1209T>G r.(?) p.(Asn403Lys) g.149905219T>G Copied from the Exome Variant Server MTMR1_000024 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1221G>A r.(=) p.(=) g.149905231G>A Copied from the Exome Variant Server MTMR1_000025 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1242+12C>T r.(=) p.(=) g.149905264C>T Copied from the Exome Variant Server MTMR1_000059 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1242+22T>C r.(=) p.(=) g.149905274T>C Copied from the Exome Variant Server MTMR1_000060 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1242+23A>G r.(=) p.(=) g.149905275A>G Copied from the Exome Variant Server MTMR1_000061 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1242+47G>A r.(=) p.(=) g.149905299G>A Copied from the Exome Variant Server MTMR1_000062 39/10561 0/6726 39/3835 - - - - - - -
?/? c.1243-36A>G r.(=) p.(=) g.149905678A>G Copied from the Exome Variant Server MTMR1_000063 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1269T>A r.(=) p.(=) g.149905740T>A Copied from the Exome Variant Server MTMR1_000064 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1336G>T r.(?) p.(Ala446Ser) g.149905807G>T Copied from the Exome Variant Server MTMR1_000065 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1360C>T r.(=) p.(=) g.149905831C>T Copied from the Exome Variant Server MTMR1_000066 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1366T>C r.(=) p.(=) g.149905837T>C Copied from the Exome Variant Server MTMR1_000067 6/10563 0/6728 6/3835 - - - - - - -
?/? c.1450-46G>C r.(=) p.(=) g.149912787G>C Copied from the Exome Variant Server MTMR1_000068 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1450-32G>A r.(=) p.(=) g.149912801G>A Copied from the Exome Variant Server MTMR1_000026 3/10563 2/6728 1/3835 - - - - - - -
?/? c.1542+47A>G r.(=) p.(=) g.149912972A>G Copied from the Exome Variant Server MTMR1_000027 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1543-8C>T r.(=) p.(=) g.149919194C>T Copied from the Exome Variant Server MTMR1_000028 1/10561 1/6728 0/3833 - - - - - - -
?/? c.1631A>G r.(?) p.(Asn544Ser) g.149919290A>G Copied from the Exome Variant Server MTMR1_000029 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1656+48C>T r.(=) p.(=) g.149919363C>T Copied from the Exome Variant Server MTMR1_000030 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1656+282G>A r.(=) p.(=) g.149919597G>A Copied from the Exome Variant Server MTMR1_000031 3/4519 3/3103 0/1416 - - - - - - -
?/? c.1657-49_1657-47del r.(=) p.(=) g.149924112_149924114del Copied from the Exome Variant Server MTMR1_000032 1/10172 0/6463 1/3709 - - - - - - -
?/? c.1674G>A r.(=) p.(=) g.149924178G>A Copied from the Exome Variant Server MTMR1_000033 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1723C>G r.(?) p.(Pro575Ala) g.149924227C>G Copied from the Exome Variant Server MTMR1_000034 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1819C>T r.(?) p.(Arg607Trp) g.149924323C>T Copied from the Exome Variant Server MTMR1_000035 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1834-36del r.(=) p.(=) g.149931002del Copied from the Exome Variant Server MTMR1_000036 11/10205 9/6484 2/3721 - - - - - - -
?/? c.1834-11G>A r.(=) p.(=) g.149931027G>A Copied from the Exome Variant Server MTMR1_000037 226/10563 0/6728 226/3835 - - - - - - -
?/? c.1855_1857del r.(?) p.(Lys619del) g.149931059_149931061del Copied from the Exome Variant Server MTMR1_000038 1/10205 0/6484 1/3721 - - - - - - -
?/? c.1870G>A r.(?) p.(Val624Ile) g.149931074G>A Copied from the Exome Variant Server MTMR1_000039 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1902C>T r.(=) p.(=) g.149931106C>T Copied from the Exome Variant Server MTMR1_000040 8538/10563 5918/6728 2620/3835 - - - - - - -
?/? c.1930G>A r.(?) p.(Val644Ile) g.149931134G>A Copied from the Exome Variant Server MTMR1_000041 5/10563 1/6728 4/3835 - - - - - - -
?/? c.1948C>T r.(?) p.(Arg650Trp) g.149931152C>T Copied from the Exome Variant Server MTMR1_000042 2/10561 0/6726 2/3835 - - - - - - -
?/? c.1953C>T r.(=) p.(=) g.149931157C>T Copied from the Exome Variant Server MTMR1_000043 1/10561 1/6726 0/3835 - - - - - - -
?/? c.1959G>A r.(=) p.(=) g.149931163G>A Copied from the Exome Variant Server MTMR1_000044 10/10561 0/6726 10/3835 - - - - - - -
?/? c.1981G>A r.(?) p.(Val661Ile) g.149931185G>A Copied from the Exome Variant Server MTMR1_000045 29/10560 28/6725 1/3835 - - - - - - -
?/? c.*5C>T r.(=) p.(=) g.149931207C>T Copied from the Exome Variant Server MTMR1_000046 2/10558 0/6725 2/3833 - - - - - - -
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