All transcript variants in gene MAX

Information The variants shown are described using the NM_197957.3 transcript reference sequence.

137 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-53del r.(=) p.(=) g.65569110del Copied from the Exome Variant Server MAX_000053 6/12504 6/8246 0/4258
?/? c.-18C>T r.(=) p.(=) g.65569075G>A Copied from the Exome Variant Server MAX_000052 1/13006 1/8600 0/4406
?/? c.6C>T r.(=) p.(=) g.65569052G>A Copied from the Exome Variant Server MAX_000051 4/13006 4/8600 0/4406
?/? c.14A>G r.(?) p.(Asp5Gly) g.65569044T>C Copied from the Exome Variant Server MAX_000050 1/13006 1/8600 0/4406
?/? c.36C>G r.(?) p.(Asp12Glu) g.65569022G>C Copied from the Exome Variant Server MAX_000049 1/13006 1/8600 0/4406
?/? c.36+11G>C r.(=) p.(=) g.65569011C>G Copied from the Exome Variant Server MAX_000048 3/13006 3/8600 0/4406
?/? c.36+27G>T r.(=) p.(=) g.65568995C>A Copied from the Exome Variant Server MAX_000047 3/13006 3/8600 0/4406
?/? c.37-35A>G r.(=) p.(=) g.65568325T>C Copied from the Exome Variant Server MAX_000046 2/12950 1/8568 1/4382
?/? c.37-16del r.(=) p.(=) g.65568306del Copied from the Exome Variant Server MAX_000045 556/12492 347/8240 209/4252
?/? c.37-16dup r.(=) p.(=) g.65568306dup Copied from the Exome Variant Server MAX_000044 634/12492 401/8240 233/4252
?/? c.37-16_37-15del r.(=) p.(=) g.65568305_65568306del Copied from the Exome Variant Server MAX_000043 61/12492 48/8240 13/4252
?/? c.63+49C>T r.(=) p.(=) g.65568215G>A Copied from the Exome Variant Server MAX_000042 6595/13004 3246/8600 3349/4404
?/? c.63+67G>A r.(=) p.(=) g.65568197C>T Copied from the Exome Variant Server MAX_000041 111/4566 101/3182 10/1384
?/? c.64-43A>G r.(=) p.(=) g.65560576T>C Copied from the Exome Variant Server MAX_000040 1/13006 1/8600 0/4406
?/? c.64-32T>C r.(=) p.(=) g.65560565A>G Copied from the Exome Variant Server MAX_000039 1/13006 1/8600 0/4406
?/? c.64-21T>C r.(=) p.(=) g.65560554A>G Copied from the Exome Variant Server MAX_000038 1/13006 1/8600 0/4406
?/? c.171+4A>G r.spl? p.? g.65560422T>C Copied from the Exome Variant Server MAX_000037 3/13006 0/8600 3/4406
?/? c.171+20T>C r.(=) p.(=) g.65560406A>G Copied from the Exome Variant Server MAX_000036 1/13006 0/8600 1/4406
?/? c.171+24T>C r.(=) p.(=) g.65560402A>G Copied from the Exome Variant Server MAX_000035 1/13006 0/8600 1/4406
?/? c.171+36A>G r.(=) p.(=) g.65560390T>C Copied from the Exome Variant Server MAX_000034 72/13006 1/8600 71/4406
?/? c.171+9361A>G r.(=) p.(=) g.65551065T>C Copied from the Exome Variant Server MAX_000033 1/12990 1/8592 0/4398
?/? c.171+9396G>A r.(=) p.(=) g.65551030C>T Copied from the Exome Variant Server MAX_000032 1/13004 1/8598 0/4406
?/? c.171+9436A>C r.(=) p.(=) g.65550990T>G Copied from the Exome Variant Server MAX_000031 1/13006 0/8600 1/4406
?/? c.171+9442G>A r.(=) p.(=) g.65550984C>T Copied from the Exome Variant Server MAX_000030 9/13006 8/8600 1/4406
?/? c.171+9451del r.(=) p.(=) g.65550975del Copied from the Exome Variant Server MAX_000029 1/12510 0/8252 1/4258
?/? c.171+9490A>G r.(=) p.(=) g.65550936T>C Copied from the Exome Variant Server MAX_000028 1/13006 1/8600 0/4406
?/? c.171+9521A>G r.(=) p.(=) g.65550905T>C Copied from the Exome Variant Server MAX_000027 2/13006 2/8600 0/4406
?/? c.171+9560T>A r.(=) p.(=) g.65550866A>T Copied from the Exome Variant Server MAX_000026 331/13006 4/8600 327/4406
?/? c.171+9567C>G r.(=) p.(=) g.65550859G>C Copied from the Exome Variant Server MAX_000025 1/13006 0/8600 1/4406
?/? c.171+9576A>T r.(=) p.(=) g.65550850T>A Copied from the Exome Variant Server MAX_000024 3/13006 2/8600 1/4406
?/? c.171+15644C>T r.(=) p.(=) g.65544782G>A Copied from the Exome Variant Server MAX_000022 1/13006 1/8600 0/4406
?/? c.171+15668A>G r.(=) p.(=) g.65544758T>C Copied from the Exome Variant Server MAX_000020 2/13006 2/8600 0/4406
?/? c.171+15801C>T r.(=) p.(=) g.65544625G>A Copied from the Exome Variant Server MAX_000018 1/13006 1/8600 0/4406
?/? c.171+15805C>T r.(=) p.(=) g.65544621G>A Copied from the Exome Variant Server MAX_000016 1/13006 1/8600 0/4406
?/? c.171+15812G>A r.(=) p.(=) g.65544614C>T Copied from the Exome Variant Server MAX_000014 1/13006 1/8600 0/4406
?/? c.171+15884T>C r.(=) p.(=) g.65544542A>G Copied from the Exome Variant Server MAX_000012 1/13006 1/8600 0/4406
?/? c.171+15917C>T r.(=) p.(=) g.65544509G>A Copied from the Exome Variant Server MAX_000010 2/13006 2/8600 0/4406
?/? c.171+15952C>G r.(=) p.(=) g.65544474G>C Copied from the Exome Variant Server MAX_000008 1/13006 1/8600 0/4406
?/? c.171+15954G>A r.(=) p.(=) g.65544472C>T Copied from the Exome Variant Server MAX_000006 6/13006 1/8600 5/4406
?/? c.171+16258C>T r.(=) p.(=) g.65544168G>A Copied from the Exome Variant Server MAX_000004 1/12266 1/8318 0/3948
?/? c.171+16287C>A r.(=) p.(=) g.65544139G>T Copied from the Exome Variant Server MAX_000002 1/12108 1/8260 0/3848
?/? c.171+16317G>A r.(=) p.(=) g.65544109C>T Copied from the Exome Variant Server MAX_000023 2/11974 2/8220 0/3754
?/? c.171+16336_171+16339del r.(=) p.(=) g.65544087_65544090del Copied from the Exome Variant Server MAX_000021 46/11418 30/7848 16/3570
?/? c.171+16339C>A r.(=) p.(=) g.65544087G>T Copied from the Exome Variant Server MAX_000019 1/11872 1/8184 0/3688
?/? c.171+17014G>A r.(=) p.(=) g.65543412C>T Copied from the Exome Variant Server MAX_000017 1/13006 0/8600 1/4406
?/? c.171+17092T>C r.(=) p.(=) g.65543334A>G Copied from the Exome Variant Server MAX_000015 1/13006 1/8600 0/4406
?/? c.171+17124C>T r.(=) p.(=) g.65543302G>A Copied from the Exome Variant Server MAX_000013 1/13006 1/8600 0/4406
?/? c.171+17155G>A r.(=) p.(=) g.65543271C>T Copied from the Exome Variant Server MAX_000011 4/13006 0/8600 4/4406
?/? c.171+17175G>A r.(=) p.(=) g.65543251C>T Copied from the Exome Variant Server MAX_000009 4/13006 2/8600 2/4406
?/? c.171+17239C>T r.(=) p.(=) g.65543187G>A Copied from the Exome Variant Server MAX_000007 5/13006 5/8600 0/4406
?/? c.171+17240G>A r.(=) p.(=) g.65543186C>T Copied from the Exome Variant Server MAX_000005 1/13006 1/8600 0/4406
?/? c.171+17268T>C r.(=) p.(=) g.65543158A>G Copied from the Exome Variant Server MAX_000003 1/13006 0/8600 1/4406
?/? c.171+17272C>G r.(=) p.(=) g.65543154G>C Copied from the Exome Variant Server MAX_000001 16/13006 0/8600 16/4406
?/? c.171+32382G>A r.(=) p.(=) g.65528044C>T Copied from the Exome Variant Server CHURC1-FNTB_000222 3/13006 1/8600 2/4406
?/? c.171+32418G>A r.(?) p.(Ser385Leu) g.65528008C>T Copied from the Exome Variant Server CHURC1-FNTB_000221 16/13006 13/8600 3/4406
?/? c.171+32423C>G r.(?) p.(Glu383Asp) g.65528003G>C Copied from the Exome Variant Server CHURC1-FNTB_000220 6/13006 5/8600 1/4406
?/? c.171+32438C>T r.(=) p.(=) g.65527988G>A Copied from the Exome Variant Server CHURC1-FNTB_000219 1/13006 1/8600 0/4406
?/? c.171+32449G>A r.(?) p.(Pro375Ser) g.65527977C>T Copied from the Exome Variant Server CHURC1-FNTB_000218 3/13006 0/8600 3/4406
?/? c.171+32457T>G r.(?) p.(Lys372Thr) g.65527969A>C Copied from the Exome Variant Server CHURC1-FNTB_000217 5/13006 3/8600 2/4406
?/? c.171+32464G>T r.(?) p.(Leu370Ile) g.65527962C>A Copied from the Exome Variant Server CHURC1-FNTB_000216 1/13006 1/8600 0/4406
?/? c.171+32476T>C r.(?) p.(Thr366Ala) g.65527950A>G Copied from the Exome Variant Server CHURC1-FNTB_000215 1/13006 1/8600 0/4406
?/? c.171+32496G>C r.(?) p.(Pro359Arg) g.65527930C>G Copied from the Exome Variant Server CHURC1-FNTB_000214 2/13006 2/8600 0/4406
?/? c.171+32543A>G r.(=) p.(=) g.65527883T>C Copied from the Exome Variant Server CHURC1-FNTB_000213 1/13006 1/8600 0/4406
?/? c.171+32563C>T r.(=) p.(=) g.65527863G>A Copied from the Exome Variant Server CHURC1-FNTB_000212 7/13006 5/8600 2/4406
?/? c.171+32567G>A r.(=) p.(=) g.65527859C>T Copied from the Exome Variant Server CHURC1-FNTB_000211 6/13006 0/8600 6/4406
?/? c.171+38971C>T r.(=) p.(=) g.65521455G>A Copied from the Exome Variant Server CHURC1-FNTB_000210 1/12986 1/8584 0/4402
?/? c.171+38972G>A r.(=) p.(=) g.65521454C>T Copied from the Exome Variant Server CHURC1-FNTB_000209 2/12988 2/8586 0/4402
?/? c.171+38973C>T r.(=) p.(=) g.65521453G>A Copied from the Exome Variant Server CHURC1-FNTB_000208 1/12986 1/8584 0/4402
?/? c.171+39000A>G r.(=) p.(=) g.65521426T>C Copied from the Exome Variant Server CHURC1-FNTB_000207 1/13006 0/8600 1/4406
?/? c.171+39042G>C r.(?) p.(Leu341Val) g.65521384C>G Copied from the Exome Variant Server CHURC1-FNTB_000206 1/13006 1/8600 0/4406
?/? c.171+39048C>A r.(?) p.(Val339Leu) g.65521378G>T Copied from the Exome Variant Server CHURC1-FNTB_000205 4/13006 0/8600 4/4406
?/? c.171+39128C>T r.(?) p.(Arg312His) g.65521298G>A Copied from the Exome Variant Server CHURC1-FNTB_000204 4/13006 0/8600 4/4406
?/? c.171+39161C>T r.(=) p.(=) g.65521265G>A Copied from the Exome Variant Server CHURC1-FNTB_000203 1/13006 1/8600 0/4406
?/? c.171+40325C>A r.(=) p.(=) g.65520101G>T Copied from the Exome Variant Server CHURC1-FNTB_000202 1/13006 1/8600 0/4406
?/? c.171+40339C>T r.(=) p.(=) g.65520087G>A Copied from the Exome Variant Server CHURC1-FNTB_000201 202/13006 181/8600 21/4406
?/? c.171+40361G>T r.(=) p.(=) g.65520065C>A Copied from the Exome Variant Server CHURC1-FNTB_000200 4/13006 0/8600 4/4406
?/? c.171+40379C>T r.(=) p.(=) g.65520047G>A Copied from the Exome Variant Server CHURC1-FNTB_000199 1/13006 0/8600 1/4406
?/? c.171+40385C>T r.(=) p.(=) g.65520041G>A Copied from the Exome Variant Server CHURC1-FNTB_000198 3/13006 2/8600 1/4406
?/? c.171+40386G>A r.(?) p.(Ala301Val) g.65520040C>T Copied from the Exome Variant Server CHURC1-FNTB_000197 1/13006 1/8600 0/4406
?/? c.171+40406C>T r.(=) p.(=) g.65520020G>A Copied from the Exome Variant Server CHURC1-FNTB_000196 1/13006 1/8600 0/4406
?/? c.171+40417C>T r.(?) p.(Glu291Lys) g.65520009G>A Copied from the Exome Variant Server CHURC1-FNTB_000195 1/13006 1/8600 0/4406
?/? c.171+40436G>A r.(=) p.(=) g.65519990C>T Copied from the Exome Variant Server CHURC1-FNTB_000193 129/13006 119/8600 10/4406
?/? c.171+40502G>A r.(=) p.(=) g.65519924C>T Copied from the Exome Variant Server CHURC1-FNTB_000191 2/13006 2/8600 0/4406
?/? c.171+40512G>T r.(=) p.(=) g.65519914C>A Copied from the Exome Variant Server CHURC1-FNTB_000189 2/13004 0/8598 2/4406
?/? c.172-38205T>G r.(=) p.(=) g.65511207A>C Copied from the Exome Variant Server CHURC1-FNTB_000187 2/13006 0/8600 2/4406
?/? c.172-38204G>A r.(=) p.(=) g.65511206C>T Copied from the Exome Variant Server CHURC1-FNTB_000185 1/13006 1/8600 0/4406
?/? c.172-38173C>T r.(=) p.(=) g.65511175G>A Copied from the Exome Variant Server CHURC1-FNTB_000183 101/13006 1/8600 100/4406
?/? c.172-38152G>A r.(=) p.(=) g.65511154C>T Copied from the Exome Variant Server CHURC1-FNTB_000181 1/13006 1/8600 0/4406
?/? c.172-38142C>T r.(?) p.(Arg267His) g.65511144G>A Copied from the Exome Variant Server CHURC1-FNTB_000179 1/13006 1/8600 0/4406
?/? c.172-38141G>A r.(?) p.(Arg267Cys) g.65511143C>T Copied from the Exome Variant Server CHURC1-FNTB_000177 1/13006 1/8600 0/4406
?/? c.172-38119C>T r.(=) p.(=) g.65511121G>A Copied from the Exome Variant Server CHURC1-FNTB_000175 12/13006 12/8600 0/4406
?/? c.172-38042G>A r.(?) p.(Arg234Trp) g.65511044C>T Copied from the Exome Variant Server CHURC1-FNTB_000194 1/13006 1/8600 0/4406
?/? c.172-37999T>C r.(=) p.(=) g.65511001A>G Copied from the Exome Variant Server CHURC1-FNTB_000192 1/13006 0/8600 1/4406
?/? c.172-34684A>G r.(=) p.(=) g.65507686T>C Copied from the Exome Variant Server CHURC1-FNTB_000190 1/13006 1/8600 0/4406
?/? c.172-34674C>G r.(=) p.(=) g.65507676G>C Copied from the Exome Variant Server CHURC1-FNTB_000188 25/13006 0/8600 25/4406
?/? c.172-34656G>A r.(=) p.(=) g.65507658C>T Copied from the Exome Variant Server CHURC1-FNTB_000186 19/13006 0/8600 19/4406
?/? c.172-34652G>A r.(=) p.(=) g.65507654C>T Copied from the Exome Variant Server CHURC1-FNTB_000184 1228/13006 1120/8600 108/4406
?/? c.172-34620G>A r.(=) p.(=) g.65507622C>T Copied from the Exome Variant Server CHURC1-FNTB_000182 1/13006 1/8600 0/4406
?/? c.172-34586G>A r.(?) p.(Ala212Val) g.65507588C>T Copied from the Exome Variant Server CHURC1-FNTB_000180 3/13006 3/8600 0/4406
?/? c.172-34584G>A r.(=) p.(=) g.65507586C>T Copied from the Exome Variant Server CHURC1-FNTB_000178 8/13006 1/8600 7/4406
Legend   « First ‹ Prev     1 2     Next › Last »