Unique variants in gene ITM2A

Information The variants shown are described using the NM_004867.4 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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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.-20G>T r.(=) p.(=) g.78622732C>A Copied from the Exome Variant Server ITM2A_000038 1/10563 1/6728 0/3835
1 c.-12C>G r.(=) p.(=) g.78622724G>C Copied from the Exome Variant Server ITM2A_000037 1/10563 1/6728 0/3835
1 c.12C>T r.(=) p.(=) g.78622701G>A Copied from the Exome Variant Server ITM2A_000036 2/10563 1/6728 1/3835
1 c.30C>T r.(=) p.(=) g.78622683G>A Copied from the Exome Variant Server ITM2A_000035 1/10563 0/6728 1/3835
1 c.39A>G r.(=) p.(=) g.78622674T>C Copied from the Exome Variant Server ITM2A_000034 2/10563 0/6728 2/3835
1 c.83C>T r.(?) p.(Thr28Met) g.78622630G>A Copied from the Exome Variant Server ITM2A_000033 1/10563 1/6728 0/3835
1 c.111+24G>A r.(=) p.(=) g.78622578C>T Copied from the Exome Variant Server ITM2A_000032 1/10541 1/6714 0/3827
1 c.112-16G>A r.(=) p.(=) g.78619067C>T Copied from the Exome Variant Server ITM2A_000031 1/10560 1/6726 0/3834
1 c.129C>G r.(=) p.(=) g.78619034G>C Copied from the Exome Variant Server ITM2A_000030 2/10561 1/6726 1/3835
1 c.215C>T r.(?) p.(Ala72Val) g.78618948G>A Copied from the Exome Variant Server ITM2A_000029 73/10559 68/6724 5/3835
1 c.243+12_243+14del r.(=) p.(=) g.78618906_78618908del Copied from the Exome Variant Server ITM2A_000028 49/9226 37/5858 12/3368
1 c.250A>G r.(?) p.(Ile84Val) g.78618630T>C Copied from the Exome Variant Server ITM2A_000027 3/10561 3/6726 0/3835
1 c.320A>G r.(?) p.(Asn107Ser) g.78618560T>C Copied from the Exome Variant Server ITM2A_000026 3/10563 3/6728 0/3835
1 c.355G>A r.(?) p.(Glu119Lys) g.78618525C>T Copied from the Exome Variant Server ITM2A_000025 1/10563 0/6728 1/3835
1 c.371C>T r.(?) p.(Ala124Val) g.78618509G>A Copied from the Exome Variant Server ITM2A_000024 6/10562 6/6728 0/3834
1 c.378T>C r.(=) p.(=) g.78618502A>G Copied from the Exome Variant Server ITM2A_000023 1/10563 1/6728 0/3835
1 c.384_389del r.(?) p.(Val130_Pro131del) g.78618491_78618496del Copied from the Exome Variant Server ITM2A_000022 18/10205 15/6484 3/3721
1 c.412C>T r.(?) p.(Pro138Ser) g.78618468G>A Copied from the Exome Variant Server ITM2A_000021 1/10563 0/6728 1/3835
1 c.420A>G r.(=) p.(=) g.78618460T>C Copied from the Exome Variant Server ITM2A_000020 1/10563 0/6728 1/3835
1 c.441+19T>C r.(=) p.(=) g.78618420A>G Copied from the Exome Variant Server ITM2A_000019 1/10553 0/6722 1/3831
1 c.441+47C>T r.(=) p.(=) g.78618392G>A Copied from the Exome Variant Server ITM2A_000018 10/10505 10/6702 0/3803
1 c.442-52G>A r.(=) p.(=) g.78618240C>T Copied from the Exome Variant Server ITM2A_000017 1/6038 0/3621 1/2417
1 c.442-44A>T r.(=) p.(=) g.78618232T>A Copied from the Exome Variant Server ITM2A_000016 10/10563 0/6728 10/3835
1 c.442-25C>T r.(=) p.(=) g.78618213G>A Copied from the Exome Variant Server ITM2A_000015 3/10563 3/6728 0/3835
1 c.442-10T>C r.(=) p.(=) g.78618198A>G Copied from the Exome Variant Server ITM2A_000014 44/10563 1/6728 43/3835
1 c.468G>C r.(?) p.(Leu156Phe) g.78618162C>G Copied from the Exome Variant Server ITM2A_000013 1/10563 0/6728 1/3835
1 c.552+16G>A r.(=) p.(=) g.78618062C>T Copied from the Exome Variant Server ITM2A_000012 1/10557 1/6724 0/3833
1 c.552+19A>G r.(=) p.(=) g.78618059T>C Copied from the Exome Variant Server ITM2A_000011 6/10557 5/6724 1/3833
1 c.552+28T>C r.(=) p.(=) g.78618050A>G Copied from the Exome Variant Server ITM2A_000010 9386/10557 5857/6724 3529/3833
1 c.552+43G>A r.(=) p.(=) g.78618035C>T Copied from the Exome Variant Server ITM2A_000009 1/10551 1/6720 0/3831
1 c.553-27A>C r.(=) p.(=) g.78617003T>G Copied from the Exome Variant Server ITM2A_000008 1/10544 0/6715 1/3829
1 c.604G>A r.(?) p.(Val202Met) g.78616925C>T Copied from the Exome Variant Server ITM2A_000007 1/10560 1/6725 0/3835
1 c.606G>A r.(=) p.(=) g.78616923C>T Copied from the Exome Variant Server ITM2A_000006 79/10561 74/6726 5/3835
1 c.703+39C>T r.(=) p.(=) g.78616787G>A Copied from the Exome Variant Server ITM2A_000005 1865/10561 99/6726 1766/3835
1 c.704-46T>A r.(=) p.(=) g.78616720A>T Copied from the Exome Variant Server ITM2A_000004 1/10562 1/6728 0/3834
1 c.704-40A>G r.(=) p.(=) g.78616714T>C Copied from the Exome Variant Server ITM2A_000003 1/10562 1/6728 0/3834
1 c.704-31A>G r.(=) p.(=) g.78616705T>C Copied from the Exome Variant Server ITM2A_000002 1/10562 1/6728 0/3834
1 c.*40A>C r.(=) p.(=) g.78616546T>G Copied from the Exome Variant Server ITM2A_000001 21/10562 20/6728 1/3834
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