Unique variants in gene HAX1

Information The variants shown are described using the NM_006118.3 transcript reference sequence.

67 entries on 1 page. Showing entries 1 - 67.
Legend  

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-58T>G r.(=) p.(=) g.154245142T>G Copied from the Exome Variant Server HAX1_000001 971/4566 893/3182 78/1384
1 c.18C>T r.(=) p.(=) g.154245217C>T Copied from the Exome Variant Server HAX1_000002 1/13006 1/8600 0/4406
1 c.24G>A r.(=) p.(=) g.154245223G>A Copied from the Exome Variant Server HAX1_000003 1/13006 1/8600 0/4406
1 c.53+11G>A r.(=) p.(=) g.154245263G>A Copied from the Exome Variant Server HAX1_000004 2/13006 1/8600 1/4406
1 c.53+14C>T r.(=) p.(=) g.154245266C>T Copied from the Exome Variant Server HAX1_000005 121/13006 2/8600 119/4406
1 c.53+28G>T r.(=) p.(=) g.154245280G>T Copied from the Exome Variant Server HAX1_000006 25/13006 0/8600 25/4406
1 c.53+30G>A r.(=) p.(=) g.154245282G>A Copied from the Exome Variant Server HAX1_000007 1/13006 0/8600 1/4406
1 c.54-41T>C r.(=) p.(=) g.154245771T>C Copied from the Exome Variant Server HAX1_000009 10/13000 9/8596 1/4404
1 c.54-18A>G r.(=) p.(=) g.154245794A>G Copied from the Exome Variant Server HAX1_000011 4/13006 4/8600 0/4406
1 c.91del r.(?) p.(Glu31Lysfs*54) g.154245849del Copied from the Exome Variant Server HAX1_000013 4/12520 4/8254 0/4266
1 c.91_93del r.(?) p.(Glu31del) g.154245849_154245851del Copied from the Exome Variant Server HAX1_000015 8/12520 1/8254 7/4266
1 c.94_96del r.(?) p.(Asp34del) g.154245852_154245854del Copied from the Exome Variant Server HAX1_000018 8/12520 1/8254 7/4266
1 c.102T>G r.(?) p.(Asp34Glu) g.154245860T>G Copied from the Exome Variant Server HAX1_000020 2/13006 1/8600 1/4406
1 c.106_108del r.(?) p.(Glu40del) g.154245864_154245866del Copied from the Exome Variant Server HAX1_000022 448/12520 303/8254 145/4266
1 c.116_117insAGAAGG r.(?) p.(Glu40_Gly41dup) g.154245874_154245875insAGAAGG Copied from the Exome Variant Server HAX1_000024 6/12520 5/8254 1/4266
1 c.122G>T r.(?) p.(Gly41Val) g.154245880G>T Copied from the Exome Variant Server HAX1_000026 1/13006 0/8600 1/4406
1 c.145C>A r.(?) p.(Pro49Thr) g.154245903C>A Copied from the Exome Variant Server HAX1_000008 2/13006 2/8600 0/4406
1 c.159T>C r.(=) p.(=) g.154245917T>C Copied from the Exome Variant Server HAX1_000010 1290/13006 1132/8600 158/4406
1 c.160C>G r.(?) p.(Pro54Ala) g.154245918C>G Copied from the Exome Variant Server HAX1_000012 2/13006 2/8600 0/4406
1 c.170C>T r.(?) p.(Pro57Leu) g.154245928C>T Copied from the Exome Variant Server HAX1_000014 3/13006 0/8600 3/4406
1 c.182T>C r.(?) p.(Phe61Ser) g.154245940T>C Copied from the Exome Variant Server HAX1_000016 2/13006 1/8600 1/4406
1 c.206C>G r.(?) p.(Pro69Arg) g.154245964C>G Copied from the Exome Variant Server HAX1_000017 1/13006 1/8600 0/4406
1 c.207A>T r.(=) p.(=) g.154245965A>T Copied from the Exome Variant Server HAX1_000019 18/13006 17/8600 1/4406
1 c.221G>A r.(?) p.(Arg74His) g.154245979G>A Copied from the Exome Variant Server HAX1_000021 1/13006 0/8600 1/4406
1 c.316+4T>C r.spl? p.? g.154246078T>C Copied from the Exome Variant Server HAX1_000023 1/13006 1/8600 0/4406
1 c.316+14C>A r.(=) p.(=) g.154246088C>A Copied from the Exome Variant Server HAX1_000025 1/13006 0/8600 1/4406
1 c.317-33C>T r.(=) p.(=) g.154246217C>T Copied from the Exome Variant Server HAX1_000027 48/13006 0/8600 48/4406
1 c.317-5T>A r.spl? p.? g.154246245T>A Copied from the Exome Variant Server HAX1_000028 1/13006 1/8600 0/4406
1 c.317-4G>T r.spl? p.? g.154246246G>T Copied from the Exome Variant Server HAX1_000030 1/13006 1/8600 0/4406
1 c.317-2A>G r.spl? p.? g.154246248A>G Copied from the Exome Variant Server HAX1_000031 1/13006 0/8600 1/4406
1 c.328C>G r.(?) p.(Pro110Ala) g.154246261C>G Copied from the Exome Variant Server HAX1_000033 1/13006 0/8600 1/4406
1 c.337G>T r.(?) p.(Glu113*) g.154246270G>T Copied from the Exome Variant Server HAX1_000036 1/13006 1/8600 0/4406
1 c.339G>C r.(?) p.(Glu113Asp) g.154246272G>C Copied from the Exome Variant Server HAX1_000037 2/13006 0/8600 2/4406
1 c.377G>A r.(?) p.(Arg126Gln) g.154246310G>A Copied from the Exome Variant Server HAX1_000039 1/13006 1/8600 0/4406
1 c.385A>G r.(?) p.(Met129Val) g.154246318A>G Copied from the Exome Variant Server HAX1_000041 1/13006 1/8600 0/4406
1 c.403A>G r.(?) p.(Ser135Gly) g.154246336A>G Copied from the Exome Variant Server HAX1_000043 1/13006 1/8600 0/4406
1 c.504+26T>A r.(=) p.(=) g.154246463T>A Copied from the Exome Variant Server HAX1_000045 46/13006 40/8600 6/4406
1 c.504+51A>G r.(=) p.(=) g.154246488A>G Copied from the Exome Variant Server HAX1_000047 1/12970 0/8582 1/4388
1 c.505-14G>C r.(=) p.(=) g.154247412G>C Copied from the Exome Variant Server HAX1_000049 1/13006 1/8600 0/4406
1 c.505-4G>A r.spl? p.? g.154247422G>A Copied from the Exome Variant Server HAX1_000051 2/13006 2/8600 0/4406
1 c.514G>A r.(?) p.(Val172Ile) g.154247435G>A Copied from the Exome Variant Server HAX1_000053 1/13006 1/8600 0/4406
1 c.526G>A r.(?) p.(Asp176Asn) g.154247447G>A Copied from the Exome Variant Server HAX1_000029 1/13006 0/8600 1/4406
1 c.556+19G>T r.(=) p.(=) g.154247496G>T Copied from the Exome Variant Server HAX1_000032 1/13006 0/8600 1/4406
1 c.556+66C>G r.(=) p.(=) g.154247543C>G Copied from the Exome Variant Server HAX1_000034 1/4566 1/3182 0/1384
1 c.557-33C>T r.(=) p.(=) g.154247597C>T Copied from the Exome Variant Server HAX1_000035 2/13006 0/8600 2/4406
1 c.593C>T r.(?) p.(Pro198Leu) g.154247666C>T Copied from the Exome Variant Server HAX1_000038 3/13006 1/8600 2/4406
1 c.664-26A>G r.(=) p.(=) g.154247843A>G Copied from the Exome Variant Server HAX1_000040 1/13006 0/8600 1/4406
1 c.664-10C>T r.(=) p.(=) g.154247859C>T Copied from the Exome Variant Server HAX1_000042 1/13006 0/8600 1/4406
1 c.679C>T r.(?) p.(Arg227Trp) g.154247884C>T Copied from the Exome Variant Server HAX1_000044 1/13006 1/8600 0/4406
1 c.703C>T r.(?) p.(Arg235Trp) g.154247908C>T Copied from the Exome Variant Server HAX1_000046 1/13006 0/8600 1/4406
1 c.704G>A r.(?) p.(Arg235Gln) g.154247909G>A Copied from the Exome Variant Server HAX1_000048 2/13006 2/8600 0/4406
1 c.713C>T r.(?) p.(Thr238Ile) g.154247918C>T Copied from the Exome Variant Server HAX1_000050 2/13006 2/8600 0/4406
1 c.729C>T r.(=) p.(=) g.154247934C>T Copied from the Exome Variant Server HAX1_000052 1/13006 1/8600 0/4406
1 c.730G>A r.(?) p.(Glu244Lys) g.154247935G>A Copied from the Exome Variant Server HAX1_000054 1/13006 1/8600 0/4406
1 c.736G>C r.(?) p.(Asp246His) g.154247941G>C Copied from the Exome Variant Server HAX1_000055 1/13006 1/8600 0/4406
1 c.752G>T r.(?) p.(Gly251Val) g.154247957G>T Copied from the Exome Variant Server HAX1_000056 1/13006 1/8600 0/4406
1 c.754+15_754+16del r.(=) p.(=) g.154247974_154247975del Copied from the Exome Variant Server HAX1_000057 1/12520 0/8254 1/4266
1 c.754+16A>G r.(=) p.(=) g.154247975A>G Copied from the Exome Variant Server HAX1_000058 1/13006 1/8600 0/4406
1 c.754+32G>C r.(=) p.(=) g.154247991G>C Copied from the Exome Variant Server HAX1_000059 1/13006 0/8600 1/4406
1 c.755-19G>A r.(=) p.(=) g.154248073G>A Copied from the Exome Variant Server HAX1_000060 1/13006 1/8600 0/4406
1 c.755-4T>C r.spl? p.? g.154248088T>C Copied from the Exome Variant Server HAX1_000061 1/13006 1/8600 0/4406
1 c.757C>A r.(?) p.(Pro253Thr) g.154248094C>A Copied from the Exome Variant Server HAX1_000062 2/13006 2/8600 0/4406
1 c.811T>C r.(?) p.(Phe271Leu) g.154248148T>C Copied from the Exome Variant Server HAX1_000063 1/13006 1/8600 0/4406
1 c.829C>T r.(?) p.(Arg277Trp) g.154248166C>T Copied from the Exome Variant Server HAX1_000064 6/13006 6/8600 0/4406
1 c.830G>A r.(?) p.(Arg277Gln) g.154248167G>A Copied from the Exome Variant Server HAX1_000065 1/13006 1/8600 0/4406
1 c.*40del r.(=) p.(=) g.154248217del Copied from the Exome Variant Server HAX1_000066 1/12520 0/8254 1/4266
1 c.*42del r.(=) p.(=) g.154248219del Copied from the Exome Variant Server HAX1_000067 1/12520 0/8254 1/4266
Legend