All transcript variants in gene EIF2S3

Information The variants shown are described using the NM_001415.3 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-17C>T r.(=) p.(=) g.24073069C>T Copied from the Exome Variant Server EIF2S3_000001 1/10563 0/6728 1/3835
?/? c.-13C>T r.(=) p.(=) g.24073073C>T Copied from the Exome Variant Server EIF2S3_000002 1/10563 0/6728 1/3835
?/? c.17C>T r.(?) p.(Ala6Val) g.24073102C>T Copied from the Exome Variant Server EIF2S3_000003 1/10563 0/6728 1/3835
?/? c.28C>T r.(=) p.(=) g.24073113C>T Copied from the Exome Variant Server EIF2S3_000004 5/10563 5/6728 0/3835
?/? c.70-56A>G r.(=) p.(=) g.24073676A>G Copied from the Exome Variant Server EIF2S3_000005 22/3600 0/2391 22/1209
?/? c.70-46_70-45del r.(=) p.(=) g.24073686_24073687del Copied from the Exome Variant Server EIF2S3_000006 5/10205 3/6484 2/3721
?/? c.70-42A>G r.(=) p.(=) g.24073690A>G Copied from the Exome Variant Server EIF2S3_000007 1/10563 1/6728 0/3835
?/? c.70-34T>C r.(=) p.(=) g.24073698T>C Copied from the Exome Variant Server EIF2S3_000008 1/10563 0/6728 1/3835
?/? c.99C>T r.(=) p.(=) g.24073761C>T Copied from the Exome Variant Server EIF2S3_000009 5283/10563 4540/6728 743/3835
?/? c.123A>G r.(=) p.(=) g.24073785A>G Copied from the Exome Variant Server EIF2S3_000010 23/10563 3/6728 20/3835
?/? c.133+8T>C r.(=) p.(=) g.24073803T>C Copied from the Exome Variant Server EIF2S3_000011 11/10563 10/6728 1/3835
?/? c.133+35C>T r.(=) p.(=) g.24073830C>T Copied from the Exome Variant Server EIF2S3_000013 4/10563 0/6728 4/3835
?/? c.134-47_134-46del r.(=) p.(=) g.24075491_24075492del Copied from the Exome Variant Server EIF2S3_000015 1/10161 0/6465 1/3696
?/? c.134-38del r.(=) p.(=) g.24075500del Copied from the Exome Variant Server EIF2S3_000017 6/10180 2/6469 4/3711
?/? c.261+27A>T r.(=) p.(=) g.24075692A>T Copied from the Exome Variant Server EIF2S3_000019 1/10563 0/6728 1/3835
?/? c.261+28C>T r.(=) p.(=) g.24075693C>T Copied from the Exome Variant Server EIF2S3_000021 3/10563 0/6728 3/3835
?/? c.261+29T>C r.(=) p.(=) g.24075694T>C Copied from the Exome Variant Server EIF2S3_000023 1/10563 1/6728 0/3835
?/? c.262-32C>A r.(=) p.(=) g.24075718C>A Copied from the Exome Variant Server EIF2S3_000012 2/10563 0/6728 2/3835
?/? c.262-22_262-21del r.(=) p.(=) g.24075728_24075729del Copied from the Exome Variant Server EIF2S3_000014 2/10205 0/6484 2/3721
?/? c.262-20_262-19del r.(=) p.(=) g.24075730_24075731del Copied from the Exome Variant Server EIF2S3_000016 19/10205 12/6484 7/3721
?/? c.262-17T>C r.(=) p.(=) g.24075733T>C Copied from the Exome Variant Server EIF2S3_000018 2/10563 0/6728 2/3835
?/? c.306T>C r.(=) p.(=) g.24075794T>C Copied from the Exome Variant Server EIF2S3_000020 3/10563 3/6728 0/3835
?/? c.333C>T r.(=) p.(=) g.24075821C>T Copied from the Exome Variant Server EIF2S3_000022 5/10562 1/6727 4/3835
?/? c.339T>C r.(=) p.(=) g.24075827T>C Copied from the Exome Variant Server EIF2S3_000024 1/10563 1/6728 0/3835
?/? c.357G>A r.(=) p.(=) g.24075845G>A Copied from the Exome Variant Server EIF2S3_000025 1/10563 0/6728 1/3835
?/? c.374A>G r.(?) p.(Lys125Arg) g.24075862A>G Copied from the Exome Variant Server EIF2S3_000026 1223/10563 1077/6728 146/3835
?/? c.383+25C>G r.(=) p.(=) g.24075896C>G Copied from the Exome Variant Server EIF2S3_000027 1/10563 1/6728 0/3835
?/? c.478+41C>T r.(=) p.(=) g.24078340C>T Copied from the Exome Variant Server EIF2S3_000028 1/10563 0/6728 1/3835
?/? c.479-24T>C r.(=) p.(=) g.24080509T>C Copied from the Exome Variant Server EIF2S3_000029 23/10562 0/6727 23/3835
?/? c.510A>G r.(=) p.(=) g.24080564A>G Copied from the Exome Variant Server EIF2S3_000030 2/10563 0/6728 2/3835
?/? c.637+37C>G r.(=) p.(=) g.24080728C>G Copied from the Exome Variant Server EIF2S3_000031 1/10551 1/6718 0/3833
?/? c.638-36_638-35del r.(=) p.(=) g.24082282_24082283del Copied from the Exome Variant Server EIF2S3_000032 1/10096 1/6429 0/3667
?/? c.747C>T r.(=) p.(=) g.24082427C>T Copied from the Exome Variant Server EIF2S3_000033 1/10555 1/6724 0/3831
?/? c.846T>C r.(=) p.(=) g.24084188T>C Copied from the Exome Variant Server EIF2S3_000035 1/10562 0/6727 1/3835
?/? c.867+33_867+34del r.(=) p.(=) g.24084242_24084243del Copied from the Exome Variant Server EIF2S3_000037 79/10205 60/6484 19/3721
?/? c.867+33_867+34dup r.(=) p.(=) g.24084242_24084243dup Copied from the Exome Variant Server EIF2S3_000039 1168/10205 840/6484 328/3721
?/? c.867+34del r.(=) p.(=) g.24084243del Copied from the Exome Variant Server EIF2S3_000042 414/10205 250/6484 164/3721
?/? c.867+34dup r.(=) p.(=) g.24084243dup Copied from the Exome Variant Server EIF2S3_000041 4932/10205 3252/6484 1680/3721
?/? c.868-34A>G r.(=) p.(=) g.24086047A>G Copied from the Exome Variant Server EIF2S3_000044 1/10563 1/6728 0/3835
?/? c.912T>C r.(=) p.(=) g.24086125T>C Copied from the Exome Variant Server EIF2S3_000046 1/10563 1/6728 0/3835
?/? c.1012+32G>C r.(=) p.(=) g.24086257G>C Copied from the Exome Variant Server EIF2S3_000047 1/10563 0/6728 1/3835
?/? c.1012+35G>C r.(=) p.(=) g.24086260G>C Copied from the Exome Variant Server EIF2S3_000048 3/10563 3/6728 0/3835
?/? c.1013-21A>G r.(=) p.(=) g.24089654A>G Copied from the Exome Variant Server EIF2S3_000034 1/10561 0/6726 1/3835
?/? c.1182+29C>G r.(=) p.(=) g.24089873C>G Copied from the Exome Variant Server EIF2S3_000036 1/10508 1/6703 0/3805
?/? c.1266C>T r.(=) p.(=) g.24091291C>T Copied from the Exome Variant Server EIF2S3_000038 236/10563 2/6728 234/3835
?/? c.1356-30del r.(=) p.(=) g.24094809del Copied from the Exome Variant Server EIF2S3_000040 14/10205 8/6484 6/3721
?/? c.1356-10C>T r.(=) p.(=) g.24094829C>T Copied from the Exome Variant Server EIF2S3_000043 1/10563 0/6728 1/3835
?/? c.*25C>T r.(=) p.(=) g.24094927C>T Copied from the Exome Variant Server EIF2S3_000045 2/10563 1/6728 1/3835
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