Unique variants in gene XAB2

Information The variants shown are described using the NM_020196.2 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Heterozygote     

Homozygous     

Owner     
./. 1 - c.51+343T>G r.(=) p.(=) g.7629134A>C - XAB2_000005 rs4134813 0.3735 166 43 Admin
./. 1 - c.52-566T>C r.(=) p.(=) g.7628864A>G - XAB2_000004 rs4134816 0.2368 128 16 Admin
./. 1 - c.522+54T>C - - g.7627189A>G - XAB2_000003 rs4134826 0.1015 35 17 Admin
./. 1 - c.522+72T>C - - g.7627171A>G - XAB2_000002 rs794084 0.4544 157 76 Admin
./. 1 - c.522+181G>A r.(=) p.(=) g.7627062C>T - XAB2_000001 rs4134831 0.8235 103 228 Admin
./. 1 - c.522+263G>C - - g.7626980C>G - XAB2_000008 rs794083 0.4103 153 63 Admin
./. 1 - c.522+432G>A - - g.7626811C>T - XAB2_000007 rs4134832 0.0279 13 3 Admin
./. 1 - c.1617+364T>G - - g.7621967A>C - XAB2_000006 rs4134856 0.9853 6 331 Admin
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