All transcript variants in gene ST13

Information The variants shown are described using the NM_003932.3 transcript reference sequence.

93 entries on 1 page. Showing entries 1 - 93.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-25_-24insC r.(=) p.(=) g.41252568_41252569insG Copied from the Exome Variant Server ST13_000093 18/11364 12/7486 6/3878
?/? c.-2C>T r.(=) p.(=) g.41252546G>A Copied from the Exome Variant Server ST13_000092 1/12772 1/8444 0/4328
?/? c.54G>C r.(?) p.(Gln18His) g.41252491C>G Copied from the Exome Variant Server ST13_000091 1/12998 1/8592 0/4406
?/? c.72C>T r.(=) p.(=) g.41252473G>A Copied from the Exome Variant Server ST13_000090 1/13006 0/8600 1/4406
?/? c.110+8C>G r.(=) p.(=) g.41252427G>C Copied from the Exome Variant Server ST13_000089 2/13006 2/8600 0/4406
?/? c.110+27G>A r.(=) p.(=) g.41252408C>T Copied from the Exome Variant Server ST13_000088 1/13006 1/8600 0/4406
?/? c.110+30G>C r.(=) p.(=) g.41252405C>G Copied from the Exome Variant Server ST13_000087 157/13006 0/8600 157/4406
?/? c.110+48C>G r.(=) p.(=) g.41252387G>C Copied from the Exome Variant Server ST13_000086 3/13002 0/8596 3/4406
?/? c.110+51G>C r.(=) p.(=) g.41252384C>G Copied from the Exome Variant Server ST13_000085 13/13002 5/8596 8/4406
?/? c.111-68G>A r.(=) p.(=) g.41246952C>T Copied from the Exome Variant Server ST13_000084 541/4550 162/3166 379/1384
?/? c.111-60G>A r.(=) p.(=) g.41246944C>T Copied from the Exome Variant Server ST13_000083 1/4558 0/3174 1/1384
?/? c.111-47G>A r.(=) p.(=) g.41246931C>T Copied from the Exome Variant Server ST13_000082 2/12908 1/8554 1/4354
?/? c.111-9T>A r.(=) p.(=) g.41246893A>T Copied from the Exome Variant Server ST13_000081 1/12960 1/8576 0/4384
?/? c.111-7C>G r.(=) p.(=) g.41246891G>C Copied from the Exome Variant Server ST13_000080 1/12966 1/8576 0/4390
?/? c.140A>G r.(?) p.(Gln47Arg) g.41246855T>C Copied from the Exome Variant Server ST13_000079 1/12986 0/8584 1/4402
?/? c.166A>G r.(?) p.(Lys56Glu) g.41246829T>C Copied from the Exome Variant Server ST13_000078 1/12992 0/8590 1/4402
?/? c.168+16A>G r.(=) p.(=) g.41246811T>C Copied from the Exome Variant Server ST13_000077 1/12982 1/8580 0/4402
?/? c.168+40C>T r.(=) p.(=) g.41246787G>A Copied from the Exome Variant Server ST13_000076 1/12982 0/8578 1/4404
?/? c.168+45A>C r.(=) p.(=) g.41246782T>G Copied from the Exome Variant Server ST13_000075 49/12978 1/8576 48/4402
?/? c.169-25G>C r.(=) p.(=) g.41244398C>G Copied from the Exome Variant Server ST13_000074 5635/13006 4009/8600 1626/4406
?/? c.196G>C r.(?) p.(Glu66Gln) g.41244346C>G Copied from the Exome Variant Server ST13_000073 12/13006 0/8600 12/4406
?/? c.214G>A r.(?) p.(Asp72Asn) g.41244328C>T Copied from the Exome Variant Server ST13_000072 1/13006 0/8600 1/4406
?/? c.244+10C>T r.(=) p.(=) g.41244288G>A Copied from the Exome Variant Server ST13_000071 1/13006 1/8600 0/4406
?/? c.244+11G>A r.(=) p.(=) g.41244287C>T Copied from the Exome Variant Server ST13_000070 13/13006 12/8600 1/4406
?/? c.244+18_244+21del r.(=) p.(=) g.41244277_41244280del Copied from the Exome Variant Server ST13_000069 38/12518 24/8254 14/4264
?/? c.244+25A>G r.(=) p.(=) g.41244273T>C Copied from the Exome Variant Server ST13_000068 1/13006 1/8600 0/4406
?/? c.244+41T>C r.(=) p.(=) g.41244257A>G Copied from the Exome Variant Server ST13_000067 180/13004 0/8598 180/4406
?/? c.244+42G>A r.(=) p.(=) g.41244256C>T Copied from the Exome Variant Server ST13_000066 1/13004 0/8598 1/4406
?/? c.244+50_244+51insA r.(=) p.(=) g.41244247_41244248insT Copied from the Exome Variant Server ST13_000065 1/12514 1/8250 0/4264
?/? c.244+51T>C r.(=) p.(=) g.41244247A>G Copied from the Exome Variant Server ST13_000064 1/13002 1/8596 0/4406
?/? c.247A>G r.(?) p.(Ile83Val) g.41240911T>C Copied from the Exome Variant Server ST13_000063 1/13006 0/8600 1/4406
?/? c.292G>C r.(?) p.(Glu98Gln) g.41240866C>G Copied from the Exome Variant Server ST13_000062 1/13006 1/8600 0/4406
?/? c.305A>T r.(?) p.(Glu102Val) g.41240853T>A Copied from the Exome Variant Server ST13_000061 1/13006 1/8600 0/4406
?/? c.306A>G r.(=) p.(=) g.41240852T>C Copied from the Exome Variant Server ST13_000060 1/13006 1/8600 0/4406
?/? c.315+6T>C r.(=) p.(=) g.41240837A>G Copied from the Exome Variant Server ST13_000059 2/13006 1/8600 1/4406
?/? c.315+8C>T r.(=) p.(=) g.41240835G>A Copied from the Exome Variant Server ST13_000058 791/13006 439/8600 352/4406
?/? c.315+9G>A r.(=) p.(=) g.41240834C>T Copied from the Exome Variant Server ST13_000057 3/13006 2/8600 1/4406
?/? c.315+34A>G r.(=) p.(=) g.41240809T>C Copied from the Exome Variant Server ST13_000056 1/13004 1/8598 0/4406
?/? c.316-38C>G r.(=) p.(=) g.41236734G>C Copied from the Exome Variant Server ST13_000055 4/12998 0/8592 4/4406
?/? c.316-36_316-35del r.(=) p.(=) g.41236731_41236732del Copied from the Exome Variant Server ST13_000054 70/12502 42/8242 28/4260
?/? c.376A>G r.(?) p.(Asn126Asp) g.41236636T>C Copied from the Exome Variant Server ST13_000053 1/13006 1/8600 0/4406
?/? c.382+22T>C r.(=) p.(=) g.41236608A>G Copied from the Exome Variant Server ST13_000052 2/13004 0/8598 2/4406
?/? c.382+27A>G r.(=) p.(=) g.41236603T>C Copied from the Exome Variant Server ST13_000051 2/13006 2/8600 0/4406
?/? c.382+57_382+58insTT r.(=) p.(=) g.41236572_41236573insAA Copied from the Exome Variant Server ST13_000050 1/12512 0/8248 1/4264
?/? c.382+1554_382+1555insT r.(=) p.(=) g.41235075_41235076insA Copied from the Exome Variant Server ST13_000049 3/5626 3/3802 0/1824
?/? c.382+1594A>G r.(=) p.(=) g.41235036T>C Copied from the Exome Variant Server ST13_000048 1/4562 1/3178 0/1384
?/? c.396A>G r.(=) p.(=) g.41231878T>C Copied from the Exome Variant Server ST13_000047 1/13006 1/8600 0/4406
?/? c.444C>T r.(=) p.(=) g.41231830G>A Copied from the Exome Variant Server ST13_000046 1/13006 1/8600 0/4406
?/? c.453T>C r.(=) p.(=) g.41231821A>G Copied from the Exome Variant Server ST13_000045 1/13006 0/8600 1/4406
?/? c.578+41T>G r.(=) p.(=) g.41231523A>C Copied from the Exome Variant Server ST13_000044 1/12764 0/8518 1/4246
?/? c.578+449_578+450insC r.(=) p.(=) g.41231114_41231115insG Copied from the Exome Variant Server ST13_000043 2/6196 0/4158 2/2038
?/? c.578+489_578+490insC r.(=) p.(=) g.41231074_41231075insG Copied from the Exome Variant Server ST13_000042 2/5986 1/4040 1/1946
?/? c.578+511T>C r.(=) p.(=) g.41231053A>G Copied from the Exome Variant Server ST13_000041 2104/4566 1517/3182 587/1384
?/? c.579-510A>G r.(=) p.(=) g.41229185T>C Copied from the Exome Variant Server ST13_000040 11/4566 0/3182 11/1384
?/? c.579-491T>C r.(=) p.(=) g.41229166A>G Copied from the Exome Variant Server ST13_000039 1/4566 0/3182 1/1384
?/? c.579-474G>A r.(=) p.(=) g.41229149C>T Copied from the Exome Variant Server ST13_000038 543/4566 168/3182 375/1384
?/? c.579-69A>T r.(=) p.(=) g.41228744T>A Copied from the Exome Variant Server ST13_000037 1/4566 1/3182 0/1384
?/? c.579-40T>C r.(=) p.(=) g.41228715A>G Copied from the Exome Variant Server ST13_000036 1/12976 1/8588 0/4388
?/? c.603A>G r.(=) p.(=) g.41228651T>C Copied from the Exome Variant Server ST13_000035 1/13006 0/8600 1/4406
?/? c.655G>A r.(?) p.(Ala219Thr) g.41228599C>T Copied from the Exome Variant Server ST13_000034 1/13006 0/8600 1/4406
?/? c.681+150C>T r.(=) p.(=) g.41228423G>A Copied from the Exome Variant Server ST13_000033 1/4566 0/3182 1/1384
?/? c.681+189A>G r.(=) p.(=) g.41228384T>C Copied from the Exome Variant Server ST13_000032 2/4566 2/3182 0/1384
?/? c.681+209_681+210del r.(=) p.(=) g.41228363_41228364del Copied from the Exome Variant Server ST13_000031 17/9720 15/6388 2/3332
?/? c.681+303_681+306del r.(=) p.(=) g.41228267_41228270del Copied from the Exome Variant Server ST13_000030 19/7074 16/4756 3/2318
?/? c.682-32C>T r.(=) p.(=) g.41226992G>A Copied from the Exome Variant Server ST13_000029 1/12954 0/8552 1/4402
?/? c.682-8T>C r.(=) p.(=) g.41226968A>G Copied from the Exome Variant Server ST13_000028 1/12998 0/8592 1/4406
?/? c.724C>T r.(?) p.(Arg242Cys) g.41226918G>A Copied from the Exome Variant Server ST13_000027 1/13002 1/8596 0/4406
?/? c.736G>A r.(?) p.(Glu246Lys) g.41226906C>T Copied from the Exome Variant Server ST13_000026 5/13000 5/8594 0/4406
?/? c.758G>A r.(?) p.(Arg253Gln) g.41226884C>T Copied from the Exome Variant Server ST13_000025 2/13002 2/8596 0/4406
?/? c.798+113A>G r.(=) p.(=) g.41226731T>C Copied from the Exome Variant Server ST13_000024 1/4566 1/3182 0/1384
?/? c.798+116_798+120del r.(=) p.(=) g.41226724_41226728del Copied from the Exome Variant Server ST13_000023 8/12128 8/8060 0/4068
?/? c.798+142C>T r.(=) p.(=) g.41226702G>A Copied from the Exome Variant Server ST13_000022 1/4566 0/3182 1/1384
?/? c.798+171del r.(=) p.(=) g.41226673del Copied from the Exome Variant Server ST13_000021 2/11210 2/7582 0/3628
?/? c.798+181T>G r.(=) p.(=) g.41226663A>C Copied from the Exome Variant Server ST13_000020 37/4566 35/3182 2/1384
?/? c.798+222_798+223del r.(=) p.(=) g.41226621_41226622del Copied from the Exome Variant Server ST13_000019 36/9970 1/6936 35/3034
?/? c.798+262A>G r.(=) p.(=) g.41226582T>C Copied from the Exome Variant Server ST13_000018 12/4562 0/3178 12/1384
?/? c.799-39C>A r.(=) p.(=) g.41225717G>T Copied from the Exome Variant Server ST13_000017 1/12506 1/8326 0/4180
?/? c.799-34_799-32del r.(=) p.(=) g.41225710_41225712del Copied from the Exome Variant Server ST13_000016 142/11858 3/7904 139/3954
?/? c.799-14del r.(=) p.(=) g.41225692del Copied from the Exome Variant Server ST13_000015 121/12170 2/8058 119/4112
?/? c.847+39A>G r.(=) p.(=) g.41225591T>C Copied from the Exome Variant Server ST13_000014 1/12464 1/8294 0/4170
?/? c.848-28A>T r.(=) p.(=) g.41223261T>A Copied from the Exome Variant Server ST13_000013 6/12796 6/8452 0/4344
?/? c.848-22G>A r.(=) p.(=) g.41223255C>T Copied from the Exome Variant Server ST13_000012 1/12836 1/8484 0/4352
?/? c.848-6T>C r.(=) p.(=) g.41223239A>G Copied from the Exome Variant Server ST13_000011 1/12874 1/8506 0/4368
?/? c.875A>G r.(?) p.(Asn292Ser) g.41223206T>C Copied from the Exome Variant Server ST13_000010 142/12998 0/8594 142/4404
?/? c.886G>C r.(?) p.(Gly296Arg) g.41223195C>G Copied from the Exome Variant Server ST13_000009 1/13002 1/8596 0/4406
?/? c.891G>A r.(?) p.(Met297Ile) g.41223190C>T Copied from the Exome Variant Server ST13_000008 933/13002 853/8596 80/4406
?/? c.900G>A r.(?) p.(Met300Ile) g.41223181C>T Copied from the Exome Variant Server ST13_000007 1/13004 0/8598 1/4406
?/? c.930_931insGCTGGAATG r.(?) p.(Ala308_Met310dup) g.41223150_41223151insCATTCCAGC Copied from the Exome Variant Server ST13_000006 1/12516 1/8252 0/4264
?/? c.981+5G>A r.spl? p.? g.41223095C>T Copied from the Exome Variant Server ST13_000005 3/13006 3/8600 0/4406
?/? c.981+42G>T r.(=) p.(=) g.41223058C>A Copied from the Exome Variant Server ST13_000004 2/13004 0/8600 2/4404
?/? c.982-14C>T r.(=) p.(=) g.41222684G>A Copied from the Exome Variant Server ST13_000003 97/13002 94/8598 3/4404
?/? c.1109A>C r.(?) p.(*370Serext*6) g.41222543T>G Copied from the Exome Variant Server ST13_000002 19/13002 0/8598 19/4404
?/? c.*15A>G r.(=) p.(=) g.41222527T>C Copied from the Exome Variant Server ST13_000001 1/13004 1/8600 0/4404
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