All transcript variants in gene MTM1

Information The variants shown are described using the NM_000252.2 transcript reference sequence.

70 entries on 1 page. Showing entries 1 - 70.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-10-57_-10-56del r.(=) p.(=) g.149761010_149761011del Copied from the Exome Variant Server MTM1_000026 23/10204 13/6483 10/3721
?/? c.-10-39A>G r.(=) p.(=) g.149761028A>G Copied from the Exome Variant Server MTM1_000027 1/10563 1/6728 0/3835
?/? c.38C>T r.(?) p.(Ser13Phe) g.149761114C>T Copied from the Exome Variant Server MTM1_000028 1/10563 1/6728 0/3835
?/? c.51G>A r.(=) p.(=) g.149761127G>A Copied from the Exome Variant Server MTM1_000029 1/10563 0/6728 1/3835
?/? c.64-50A>T r.(=) p.(=) g.149764912A>T Copied from the Exome Variant Server MTM1_000030 26/10561 21/6726 5/3835
?/? c.64-50_64-49del r.(=) p.(=) g.149764912_149764913del Copied from the Exome Variant Server MTM1_000031 38/10202 23/6482 15/3720
?/? c.64-14T>C r.(=) p.(=) g.149764948T>C Copied from the Exome Variant Server MTM1_000032 42/10563 38/6728 4/3835
?/? c.136+9C>T r.(=) p.(=) g.149765043C>T Copied from the Exome Variant Server MTM1_000033 36/10563 0/6728 36/3835
?/? c.136+17A>G r.(=) p.(=) g.149765051A>G Copied from the Exome Variant Server MTM1_000034 88/10563 1/6728 87/3835
?/? c.136+21G>A r.(=) p.(=) g.149765055G>A Copied from the Exome Variant Server MTM1_000035 1/10563 1/6728 0/3835
?/? c.136+32C>T r.(=) p.(=) g.149765066C>T Copied from the Exome Variant Server MTM1_000036 2/10563 0/6728 2/3835
?/? c.173C>G r.(?) p.(Pro58Arg) g.149767092C>G Copied from the Exome Variant Server MTM1_000037 1/10557 1/6724 0/3833
?/? c.231+30C>A r.(=) p.(=) g.149767180C>A Copied from the Exome Variant Server MTM1_000038 2/10547 0/6719 2/3828
?/? c.231+34A>G r.(=) p.(=) g.149767184A>G Copied from the Exome Variant Server MTM1_000001 2/10538 0/6716 2/3822
?/? c.231+51C>A r.(=) p.(=) g.149767201C>A Copied from the Exome Variant Server MTM1_000002 1/10530 1/6711 0/3819
?/? c.232-28C>T r.(=) p.(=) g.149783034C>T Copied from the Exome Variant Server MTM1_000003 437/10562 4/6727 433/3835
?/? c.232-7A>G r.(=) p.(=) g.149783055A>G Copied from the Exome Variant Server MTM1_000004 1/10563 0/6728 1/3835
?/? c.296C>T r.(?) p.(Ala99Val) g.149783126C>T Copied from the Exome Variant Server MTM1_000005 1/10563 0/6728 1/3835
?/? c.339T>C r.(=) p.(=) g.149783169T>C Copied from the Exome Variant Server MTM1_000006 12/10563 0/6728 12/3835
?/? c.422C>T r.(?) p.(Ala141Val) g.149787590C>T Copied from the Exome Variant Server MTM1_000007 2/10563 0/6728 2/3835
?/? c.423G>A r.(=) p.(=) g.149787591G>A Copied from the Exome Variant Server MTM1_000008 1/10563 0/6728 1/3835
?/? c.444+21C>T r.(=) p.(=) g.149787633C>T Copied from the Exome Variant Server MTM1_000009 1/10563 0/6728 1/3835
?/? c.445-33C>T r.(=) p.(=) g.149807383C>T Copied from the Exome Variant Server MTM1_000010 59/10563 2/6728 57/3835
?/? c.445-24T>G r.(=) p.(=) g.149807392T>G Copied from the Exome Variant Server MTM1_000011 1/10563 1/6728 0/3835
?/? c.528+25G>A r.(=) p.(=) g.149807524G>A Copied from the Exome Variant Server MTM1_000012 1/10563 1/6728 0/3835
?/? c.615G>A r.(=) p.(=) g.149809828G>A Copied from the Exome Variant Server MTM1_000013 7/10563 0/6728 7/3835
?/? c.620G>A r.(?) p.(Arg207His) g.149809833G>A Copied from the Exome Variant Server MTM1_000014 1/10563 0/6728 1/3835
?/? c.660G>A r.(=) p.(=) g.149809873G>A Copied from the Exome Variant Server MTM1_000015 1/10563 1/6728 0/3835
?/? c.678+18C>T r.(=) p.(=) g.149809909C>T Copied from the Exome Variant Server MTM1_000016 1/10561 0/6726 1/3835
?/? c.700G>C r.(?) p.(Glu234Gln) g.149814177G>C Copied from the Exome Variant Server MTM1_000017 1/10563 1/6728 0/3835
?/? c.741C>T r.(=) p.(=) g.149814218C>T Copied from the Exome Variant Server MTM1_000018 1/10563 0/6728 1/3835
?/? c.742G>T r.(?) p.(Gly248Cys) g.149814219G>T Copied from the Exome Variant Server MTM1_000019 1/10563 1/6728 0/3835
?/? c.745A>G r.(?) p.(Met249Val) g.149814222A>G Copied from the Exome Variant Server MTM1_000020 1/10563 0/6728 1/3835
?/? c.787G>A r.(?) p.(Val263Ile) g.149814264G>A Copied from the Exome Variant Server MTM1_000021 1/10563 1/6728 0/3835
?/? c.846C>T r.(=) p.(=) g.149814323C>T Copied from the Exome Variant Server MTM1_000022 1/10563 1/6728 0/3835
?/? c.867+13A>C r.(=) p.(=) g.149814357A>C Copied from the Exome Variant Server MTM1_000023 6/10563 0/6728 6/3835
?/? c.867+17A>G r.(=) p.(=) g.149814361A>G Copied from the Exome Variant Server MTM1_000024 3/10563 0/6728 3/3835
?/? c.868-27_868-24del r.(=) p.(=) g.149818162_149818165del Copied from the Exome Variant Server MTM1_000025 4/10201 1/6480 3/3721
?/? c.945T>C r.(=) p.(=) g.149818266T>C Copied from the Exome Variant Server MTM1_000068 1/10560 0/6725 1/3835
?/? c.1052A>G r.(?) p.(Lys351Arg) g.149818373A>G Copied from the Exome Variant Server MTM1_000069 2/10557 2/6722 0/3835
?/? c.1053+22A>C r.(=) p.(=) g.149818396A>C Copied from the Exome Variant Server MTM1_000070 1/10532 1/6709 0/3823
?/? c.1053+23T>C r.(=) p.(=) g.149818397T>C Copied from the Exome Variant Server MTM1_000067 4/10532 3/6709 1/3823
?/? c.1053+35A>T r.(=) p.(=) g.149818409A>T Copied from the Exome Variant Server MTM1_000065 1/10437 0/6675 1/3762
?/? c.1054-44G>A r.(=) p.(=) g.149826250G>A Copied from the Exome Variant Server MTM1_000039 2/10562 2/6727 0/3835
?/? c.1054-29C>A r.(=) p.(=) g.149826265C>A Copied from the Exome Variant Server MTM1_000040 1/10563 1/6728 0/3835
?/? c.1054-12_1054-9del r.(=) p.(=) g.149826282_149826285del Copied from the Exome Variant Server MTM1_000041 5/10205 3/6484 2/3721
?/? c.1152G>A r.(=) p.(=) g.149826392G>A Copied from the Exome Variant Server MTM1_000042 1/10563 0/6728 1/3835
?/? c.1188C>T r.(=) p.(=) g.149826428C>T Copied from the Exome Variant Server MTM1_000043 1/10563 1/6728 0/3835
?/? c.1213A>G r.(?) p.(Ile405Val) g.149826453A>G Copied from the Exome Variant Server MTM1_000044 1/10563 1/6728 0/3835
?/? c.1260+3G>A r.spl? p.? g.149826503G>A Copied from the Exome Variant Server MTM1_000045 6743/10563 3355/6728 3388/3835
?/? c.1260+17A>G r.(=) p.(=) g.149826517A>G Copied from the Exome Variant Server MTM1_000046 47/10563 43/6728 4/3835
?/? c.1290C>T r.(=) p.(=) g.149828166C>T Copied from the Exome Variant Server MTM1_000047 1/10563 1/6728 0/3835
?/? c.1309A>G r.(?) p.(Ile437Val) g.149828185A>G Copied from the Exome Variant Server MTM1_000048 1/10563 1/6728 0/3835
?/? c.1353+24T>G r.(=) p.(=) g.149828253T>G Copied from the Exome Variant Server MTM1_000049 1/10563 1/6728 0/3835
?/? c.1353+46T>G r.(=) p.(=) g.149828275T>G Copied from the Exome Variant Server MTM1_000050 1/10562 1/6727 0/3835
?/? c.1389G>T r.(?) p.(Leu463Phe) g.149828879G>T Copied from the Exome Variant Server MTM1_000051 1/10557 1/6726 0/3831
?/? c.1455T>C r.(=) p.(=) g.149828945T>C Copied from the Exome Variant Server MTM1_000052 1/10563 0/6728 1/3835
?/? c.1467+16_1467+17insT r.(=) p.(=) g.149828973_149828974insT Copied from the Exome Variant Server MTM1_000053 6/10200 4/6479 2/3721
?/? c.1468-21_1468-18del r.(=) p.(=) g.149831885_149831888del Copied from the Exome Variant Server MTM1_000054 3/10183 3/6479 0/3704
?/? c.1560A>G r.(=) p.(=) g.149831998A>G Copied from the Exome Variant Server MTM1_000055 1/10563 1/6728 0/3835
?/? c.1645-39G>T r.(=) p.(=) g.149839862G>T Copied from the Exome Variant Server MTM1_000056 2/10563 2/6728 0/3835
?/? c.1667G>A r.(?) p.(Arg556His) g.149839923G>A Copied from the Exome Variant Server MTM1_000057 1/10563 1/6728 0/3835
?/? c.1695C>T r.(=) p.(=) g.149839951C>T Copied from the Exome Variant Server MTM1_000058 1/10563 0/6728 1/3835
?/? c.1711C>G r.(?) p.(Leu571Val) g.149839967C>G Copied from the Exome Variant Server MTM1_000059 1/10563 0/6728 1/3835
?/? c.1728C>A r.(=) p.(=) g.149839984C>A Copied from the Exome Variant Server MTM1_000060 1/10563 0/6728 1/3835
?/? c.1729G>A r.(?) p.(Ala577Thr) g.149839985G>A Copied from the Exome Variant Server MTM1_000061 2/10563 0/6728 2/3835
?/? c.1783A>G r.(?) p.(Met595Val) g.149840039A>G Copied from the Exome Variant Server MTM1_000062 1/10563 1/6728 0/3835
?/? c.*18G>T r.(=) p.(=) g.149840086G>T Copied from the Exome Variant Server MTM1_000063 1/10562 1/6727 0/3835
?/? c.*29C>T r.(=) p.(=) g.149840097C>T Copied from the Exome Variant Server MTM1_000066 11/10562 2/6727 9/3835
?/? c.*41G>A r.(=) p.(=) g.149840109G>A Copied from the Exome Variant Server MTM1_000064 1/10562 1/6727 0/3835
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