Full data view for gene AMOT

Information The variants shown are described using the NM_133265.2 transcript reference sequence.

106 entries on 2 pages. Showing entries 1 - 100.
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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.-355-7254T>C r.(=) p.(=) g.112066359A>G Copied from the Exome Variant Server AMOT_000106 3/3600 0/2391 3/1209 - - - - - - -
?/? c.-280T>C r.(=) p.(=) g.112059030A>G Copied from the Exome Variant Server AMOT_000105 54/3600 0/2391 54/1209 - - - - - - -
?/? c.-242C>T r.(=) p.(=) g.112058992G>A Copied from the Exome Variant Server AMOT_000104 1/3600 1/2391 0/1209 - - - - - - -
?/? c.-125G>A r.(=) p.(=) g.112058875C>T Copied from the Exome Variant Server AMOT_000103 1/3600 0/2391 1/1209 - - - - - - -
?/? c.1A>G r.? p.? g.112058750T>C Copied from the Exome Variant Server AMOT_000102 1/10563 0/6728 1/3835 - - - - - - -
?/? c.21C>G r.(=) p.(=) g.112058730G>C Copied from the Exome Variant Server AMOT_000100 1/10563 1/6728 0/3835 - - - - - - -
?/? c.29C>G r.(?) p.(Ser10Cys) g.112058722G>C Copied from the Exome Variant Server AMOT_000101 2/10563 0/6728 2/3835 - - - - - - -
?/? c.70A>G r.(?) p.(Arg24Gly) g.112058681T>C Copied from the Exome Variant Server AMOT_000099 2/10563 2/6728 0/3835 - - - - - - -
?/? c.100G>A r.(?) p.(Asp34Asn) g.112058651C>T Copied from the Exome Variant Server AMOT_000098 1/10563 1/6728 0/3835 - - - - - - -
?/? c.102C>T r.(=) p.(=) g.112058649G>A Copied from the Exome Variant Server AMOT_000097 8/10563 1/6728 7/3835 - - - - - - -
?/? c.152C>G r.(?) p.(Ala51Gly) g.112058599G>C Copied from the Exome Variant Server AMOT_000096 4/10563 4/6728 0/3835 - - - - - - -
?/? c.165+11C>T r.(=) p.(=) g.112058575G>A Copied from the Exome Variant Server AMOT_000095 2/10563 1/6728 1/3835 - - - - - - -
?/? c.165+12G>T r.(=) p.(=) g.112058574C>A Copied from the Exome Variant Server AMOT_000094 1/10563 1/6728 0/3835 - - - - - - -
?/? c.165+25A>G r.(=) p.(=) g.112058561T>C Copied from the Exome Variant Server AMOT_000093 2/10563 0/6728 2/3835 - - - - - - -
?/? c.165+33T>C r.(=) p.(=) g.112058553A>G Copied from the Exome Variant Server AMOT_000092 1/10563 1/6728 0/3835 - - - - - - -
?/? c.174A>G r.(=) p.(=) g.112054613T>C Copied from the Exome Variant Server AMOT_000091 35/10563 0/6728 35/3835 - - - - - - -
?/? c.178A>G r.(?) p.(Ile60Val) g.112054609T>C Copied from the Exome Variant Server AMOT_000090 1/10563 1/6728 0/3835 - - - - - - -
?/? c.184C>T r.(?) p.(Arg62Cys) g.112054603G>A Copied from the Exome Variant Server AMOT_000089 1/10563 0/6728 1/3835 - - - - - - -
?/? c.187G>A r.(?) p.(Val63Ile) g.112054600C>T Copied from the Exome Variant Server AMOT_000088 1/10563 1/6728 0/3835 - - - - - - -
?/? c.191C>T r.(?) p.(Ser64Leu) g.112054596G>A Copied from the Exome Variant Server AMOT_000087 1/10563 0/6728 1/3835 - - - - - - -
?/? c.192G>A r.(=) p.(=) g.112054595C>T Copied from the Exome Variant Server AMOT_000086 12/10563 0/6728 12/3835 - - - - - - -
?/? c.210C>T r.(=) p.(=) g.112054577G>A Copied from the Exome Variant Server AMOT_000085 1/10563 1/6728 0/3835 - - - - - - -
?/? c.211G>A r.(?) p.(Val71Met) g.112054576C>T Copied from the Exome Variant Server AMOT_000084 1/10563 0/6728 1/3835 - - - - - - -
?/? c.216G>A r.(=) p.(=) g.112054571C>T Copied from the Exome Variant Server AMOT_000083 1/10563 0/6728 1/3835 - - - - - - -
?/? c.243G>C r.(?) p.(Glu81Asp) g.112054544C>G Copied from the Exome Variant Server AMOT_000082 1/10563 0/6728 1/3835 - - - - - - -
?/? c.308G>C r.(?) p.(Arg103Thr) g.112054479C>G Copied from the Exome Variant Server AMOT_000081 1/10563 1/6728 0/3835 - - - - - - -
?/? c.310+6G>C r.(=) p.(=) g.112054471C>G Copied from the Exome Variant Server AMOT_000080 2/10563 2/6728 0/3835 - - - - - - -
?/? c.313C>T r.(?) p.(Arg105Cys) g.112053212G>A Copied from the Exome Variant Server AMOT_000079 2/10563 2/6728 0/3835 - - - - - - -
?/? c.387G>A r.(=) p.(=) g.112053138C>T Copied from the Exome Variant Server AMOT_000078 225/10563 4/6728 221/3835 - - - - - - -
?/? c.403+12A>G r.(=) p.(=) g.112053110T>C Copied from the Exome Variant Server AMOT_000077 196/10563 0/6728 196/3835 - - - - - - -
?/? c.403+31A>G r.(=) p.(=) g.112053091T>C Copied from the Exome Variant Server AMOT_000076 1/10563 1/6728 0/3835 - - - - - - -
?/? c.403+37T>C r.(=) p.(=) g.112053085A>G Copied from the Exome Variant Server AMOT_000075 1/10563 1/6728 0/3835 - - - - - - -
?/? c.403+51G>A r.(=) p.(=) g.112053071C>T Copied from the Exome Variant Server AMOT_000074 118/10563 108/6728 10/3835 - - - - - - -
?/? c.404-36C>T r.(=) p.(=) g.112048356G>A Copied from the Exome Variant Server AMOT_000073 4/10563 4/6728 0/3835 - - - - - - -
?/? c.404-28G>A r.(=) p.(=) g.112048348C>T Copied from the Exome Variant Server AMOT_000072 1/10563 0/6728 1/3835 - - - - - - -
?/? c.404-25G>A r.(=) p.(=) g.112048345C>T Copied from the Exome Variant Server AMOT_000071 1/10563 1/6728 0/3835 - - - - - - -
?/? c.419G>A r.(?) p.(Arg140His) g.112048305C>T Copied from the Exome Variant Server AMOT_000070 2/10563 0/6728 2/3835 - - - - - - -
?/? c.440C>T r.(?) p.(Ala147Val) g.112048284G>A Copied from the Exome Variant Server AMOT_000069 17/10563 0/6728 17/3835 - - - - - - -
?/? c.458G>A r.(?) p.(Arg153His) g.112048266C>T Copied from the Exome Variant Server AMOT_000068 1/10563 0/6728 1/3835 - - - - - - -
?/? c.467A>G r.(?) p.(Asn156Ser) g.112048257T>C Copied from the Exome Variant Server AMOT_000067 1/10563 0/6728 1/3835 - - - - - - -
?/? c.510G>T r.(=) p.(=) g.112048214C>A Copied from the Exome Variant Server AMOT_000066 55/10563 0/6728 55/3835 - - - - - - -
?/? c.549+19G>A r.(=) p.(=) g.112048156C>T Copied from the Exome Variant Server AMOT_000065 1/10563 1/6728 0/3835 - - - - - - -
?/? c.549+50A>G r.(=) p.(=) g.112048125T>C Copied from the Exome Variant Server AMOT_000064 1/10563 0/6728 1/3835 - - - - - - -
?/? c.550-41T>C r.(=) p.(=) g.112035250A>G Copied from the Exome Variant Server AMOT_000063 2/10563 0/6728 2/3835 - - - - - - -
?/? c.550-12A>G r.(=) p.(=) g.112035221T>C Copied from the Exome Variant Server AMOT_000062 1/10563 1/6728 0/3835 - - - - - - -
?/? c.571G>C r.(?) p.(Val191Leu) g.112035188C>G Copied from the Exome Variant Server AMOT_000061 2/10563 0/6728 2/3835 - - - - - - -
?/? c.620C>A r.(?) p.(Ala207Glu) g.112035139G>T Copied from the Exome Variant Server AMOT_000060 1/10563 0/6728 1/3835 - - - - - - -
?/? c.650G>A r.(?) p.(Arg217His) g.112035109C>T Copied from the Exome Variant Server AMOT_000058 1/10563 1/6728 0/3835 - - - - - - -
?/? c.656G>A r.(?) p.(Arg219Gln) g.112035103C>T Copied from the Exome Variant Server AMOT_000056 1/10563 0/6728 1/3835 - - - - - - -
?/? c.699+24del r.(=) p.(=) g.112035036del Copied from the Exome Variant Server AMOT_000054 20/10205 19/6484 1/3721 - - - - - - -
?/? c.699+35_699+36insA r.(=) p.(=) g.112035024_112035025insT Copied from the Exome Variant Server AMOT_000052 3/10205 0/6484 3/3721 - - - - - - -
?/? c.700-41_700-39del r.(=) p.(=) g.112034049_112034051del Copied from the Exome Variant Server AMOT_000050 1/10201 1/6482 0/3719 - - - - - - -
?/? c.700-36del r.(=) p.(=) g.112034046del Copied from the Exome Variant Server AMOT_000048 1/10201 1/6482 0/3719 - - - - - - -
?/? c.726C>T r.(=) p.(=) g.112033984G>A Copied from the Exome Variant Server AMOT_000046 2/10563 1/6728 1/3835 - - - - - - -
?/? c.740A>G r.(?) p.(Asn247Ser) g.112033970T>C Copied from the Exome Variant Server AMOT_000044 1/10563 0/6728 1/3835 - - - - - - -
?/? c.891-26C>T r.(=) p.(=) g.112025916G>A Copied from the Exome Variant Server AMOT_000042 3/10563 0/6728 3/3835 - - - - - - -
?/? c.891-9C>T r.(=) p.(=) g.112025899G>A Copied from the Exome Variant Server AMOT_000059 1/10563 0/6728 1/3835 - - - - - - -
?/? c.949C>T r.(?) p.(Arg317Cys) g.112025832G>A Copied from the Exome Variant Server AMOT_000057 2/10563 0/6728 2/3835 - - - - - - -
?/? c.982G>T r.(?) p.(Ala328Ser) g.112025799C>A Copied from the Exome Variant Server AMOT_000055 1/10563 0/6728 1/3835 - - - - - - -
?/? c.997C>T r.(?) p.(Leu333Phe) g.112025784G>A Copied from the Exome Variant Server AMOT_000053 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1013+27A>C r.(=) p.(=) g.112025741T>G Copied from the Exome Variant Server AMOT_000051 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1013+43A>G r.(=) p.(=) g.112025725T>C Copied from the Exome Variant Server AMOT_000049 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1014-52C>A r.(=) p.(=) g.112024398G>T Copied from the Exome Variant Server AMOT_000047 32/6035 0/3621 32/2414 - - - - - - -
?/? c.1014-49G>A r.(=) p.(=) g.112024395C>T Copied from the Exome Variant Server AMOT_000045 23/10563 0/6728 23/3835 - - - - - - -
?/? c.1096A>G r.(?) p.(Lys366Glu) g.112024264T>C Copied from the Exome Variant Server AMOT_000043 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1113G>A r.(=) p.(=) g.112024247C>T Copied from the Exome Variant Server AMOT_000041 105/10563 0/6728 105/3835 - - - - - - -
?/? c.1151A>G r.(?) p.(Asn384Ser) g.112024209T>C Copied from the Exome Variant Server AMOT_000040 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1152T>C r.(=) p.(=) g.112024208A>G Copied from the Exome Variant Server AMOT_000039 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1165T>A r.(?) p.(Leu389Met) g.112024195A>T Copied from the Exome Variant Server AMOT_000038 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1203C>A r.(=) p.(=) g.112024157G>T Copied from the Exome Variant Server AMOT_000037 903/10563 363/6728 540/3835 - - - - - - -
?/? c.1246+1G>A r.spl? p.? g.112024113C>T Copied from the Exome Variant Server AMOT_000036 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1247-51G>A r.(=) p.(=) g.112022959C>T Copied from the Exome Variant Server AMOT_000035 1/10562 0/6727 1/3835 - - - - - - -
?/? c.1247-47T>C r.(=) p.(=) g.112022955A>G Copied from the Exome Variant Server AMOT_000034 2/10562 0/6727 2/3835 - - - - - - -
?/? c.1247-7T>C r.(=) p.(=) g.112022915A>G Copied from the Exome Variant Server AMOT_000033 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1261G>A r.(?) p.(Gly421Arg) g.112022894C>T Copied from the Exome Variant Server AMOT_000032 4/10563 4/6728 0/3835 - - - - - - -
?/? c.1270C>T r.(?) p.(Arg424Cys) g.112022885G>A Copied from the Exome Variant Server AMOT_000031 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1274C>A r.(?) p.(Ala425Asp) g.112022881G>T Copied from the Exome Variant Server AMOT_000030 11/10563 0/6728 11/3835 - - - - - - -
?/? c.1352G>A r.(?) p.(Arg451Gln) g.112022803C>T Copied from the Exome Variant Server AMOT_000029 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1359C>T r.(=) p.(=) g.112022796G>A Copied from the Exome Variant Server AMOT_000028 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1456G>A r.(?) p.(Ala486Thr) g.112022699C>T Copied from the Exome Variant Server AMOT_000027 7/10272 5/6538 2/3734 - - - - - - -
?/? c.1448_1459del r.(?) p.(Thr483_Ala486del) g.112022696_112022707del Copied from the Exome Variant Server AMOT_000026 3/9447 2/5965 1/3482 - - - - - - -
?/? c.1462del r.(?) p.(Thr488Leufs*12) g.112022693del Copied from the Exome Variant Server AMOT_000025 154/9874 106/6263 48/3611 - - - - - - -
?/? c.1468A>G r.(?) p.(Thr490Ala) g.112022687T>C Copied from the Exome Variant Server AMOT_000024 65/10420 0/6636 65/3784 - - - - - - -
?/? c.1456_1476del r.(?) p.(Ala486_Ala492del) g.112022679_112022699del Copied from the Exome Variant Server AMOT_000023 58/9905 31/6291 27/3614 - - - - - - -
?/? c.1511T>C r.(?) p.(Val504Ala) g.112022644A>G Copied from the Exome Variant Server AMOT_000022 25/10460 21/6663 4/3797 - - - - - - -
?/? c.1511_1519del r.(?) p.(Val504_Val506del) g.112022636_112022644del Copied from the Exome Variant Server AMOT_000021 196/9998 146/6348 50/3650 - - - - - - -
?/? c.1524_1525insA r.(?) p.(Ala509Serfs*109) g.112022630_112022631insT Copied from the Exome Variant Server AMOT_000020 98/9900 80/6277 18/3623 - - - - - - -
?/? c.1531_1533del r.(?) p.(Ala511del) g.112022622_112022624del Copied from the Exome Variant Server AMOT_000019 62/9549 42/6030 20/3519 - - - - - - -
?/? c.1511_1537del r.(?) p.(Val504_Pro512del) g.112022618_112022644del Copied from the Exome Variant Server AMOT_000018 225/9449 161/5959 64/3490 - - - - - - -
?/? c.1548_1550del r.(?) p.(Ala517del) g.112022605_112022607del Copied from the Exome Variant Server AMOT_000017 59/9026 41/5687 18/3339 - - - - - - -
?/? c.1635C>G r.(=) p.(=) g.112022520G>C Copied from the Exome Variant Server AMOT_000016 1/10337 1/6594 0/3743 - - - - - - -
?/? c.1642G>A r.(?) p.(Ala548Thr) g.112022513C>T Copied from the Exome Variant Server AMOT_000015 1/10366 1/6608 0/3758 - - - - - - -
?/? c.1676_1678del r.(?) p.(Ala559del) g.112022477_112022479del Copied from the Exome Variant Server AMOT_000014 245/9974 171/6334 74/3640 - - - - - - -
?/? c.1700C>T r.(?) p.(Pro567Leu) g.112022455G>A Copied from the Exome Variant Server AMOT_000013 2/10552 0/6722 2/3830 - - - - - - -
?/? c.1718C>T r.(?) p.(Pro573Leu) g.112022437G>A Copied from the Exome Variant Server AMOT_000012 3/10560 3/6726 0/3834 - - - - - - -
?/? c.1726G>A r.(?) p.(Val576Ile) g.112022429C>T Copied from the Exome Variant Server AMOT_000011 1/10561 0/6727 1/3834 - - - - - - -
?/? c.1730C>T r.(?) p.(Pro577Leu) g.112022425G>A Copied from the Exome Variant Server AMOT_000010 15/10561 14/6727 1/3834 - - - - - - -
?/? c.1739C>G r.(?) p.(Ala580Gly) g.112022416G>C Copied from the Exome Variant Server AMOT_000009 1/10562 1/6728 0/3834 - - - - - - -
?/? c.1740T>G r.(=) p.(=) g.112022415A>C Copied from the Exome Variant Server AMOT_000008 1/10561 0/6727 1/3834 - - - - - - -
?/? c.1857_1858insCCT r.(?) p.(Pro619dup) g.112022297_112022298insAGG Copied from the Exome Variant Server AMOT_000007 628/10205 510/6484 118/3721 - - - - - - -
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