All transcript variants in gene SRC

Information The variants shown are described using the NM_005417.3 transcript reference sequence.

91 entries on 1 page. Showing entries 1 - 91.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-4-43C>T r.(=) p.(=) g.36012510C>T Copied from the Exome Variant Server SRC_000001 1/12130 1/8150 0/3980
?/? c.251-12C>A r.(=) p.(=) g.36014466C>A Copied from the Exome Variant Server SRC_000002 1/13006 0/8600 1/4406
?/? c.331C>T r.(?) p.(Leu111Phe) g.36014558C>T Copied from the Exome Variant Server SRC_000003 1/13006 1/8600 0/4406
?/? c.350+36G>A r.(=) p.(=) g.36014613G>A Copied from the Exome Variant Server SRC_000004 1/13006 0/8600 1/4406
?/? c.351-46C>T r.(=) p.(=) g.36022252C>T Copied from the Exome Variant Server SRC_000005 2/12994 2/8592 0/4402
?/? c.351-41G>A r.(=) p.(=) g.36022257G>A Copied from the Exome Variant Server SRC_000006 14/12996 0/8596 14/4400
?/? c.378G>A r.(=) p.(=) g.36022325G>A Copied from the Exome Variant Server SRC_000007 2/13006 2/8600 0/4406
?/? c.387A>G r.(=) p.(=) g.36022334A>G Copied from the Exome Variant Server SRC_000008 17/13006 0/8600 17/4406
?/? c.394A>G r.(?) p.(Thr132Ala) g.36022341A>G Copied from the Exome Variant Server SRC_000009 1/13006 1/8600 0/4406
?/? c.408C>T r.(=) p.(=) g.36022355C>T Copied from the Exome Variant Server SRC_000010 3/13006 0/8600 3/4406
?/? c.417C>T r.(=) p.(=) g.36022364C>T Copied from the Exome Variant Server SRC_000011 1/13006 1/8600 0/4406
?/? c.449+9C>T r.(=) p.(=) g.36022405C>T Copied from the Exome Variant Server SRC_000012 88/13006 80/8600 8/4406
?/? c.449+29C>T r.(=) p.(=) g.36022425C>T Copied from the Exome Variant Server SRC_000013 2/13006 2/8600 0/4406
?/? c.449+30G>A r.(=) p.(=) g.36022426G>A Copied from the Exome Variant Server SRC_000014 2/13006 1/8600 1/4406
?/? c.449+32C>T r.(=) p.(=) g.36022428C>T Copied from the Exome Variant Server SRC_000015 2/13004 0/8598 2/4406
?/? c.449+49G>A r.(=) p.(=) g.36022445G>A Copied from the Exome Variant Server SRC_000016 15/13004 1/8598 14/4406
?/? c.450-47G>A r.(=) p.(=) g.36022530G>A Copied from the Exome Variant Server SRC_000017 1/13006 0/8600 1/4406
?/? c.450-38T>C r.(=) p.(=) g.36022539T>C Copied from the Exome Variant Server SRC_000018 2935/13006 903/8600 2032/4406
?/? c.528C>T r.(=) p.(=) g.36022655C>T Copied from the Exome Variant Server SRC_000019 1/13006 0/8600 1/4406
?/? c.529G>A r.(?) p.(Val177Met) g.36022656G>A Copied from the Exome Variant Server SRC_000020 1/13006 1/8600 0/4406
?/? c.548C>T r.(?) p.(Thr183Met) g.36022675C>T Copied from the Exome Variant Server SRC_000021 1/13006 1/8600 0/4406
?/? c.553+8C>T r.(=) p.(=) g.36022688C>T Copied from the Exome Variant Server SRC_000022 2/13006 2/8600 0/4406
?/? c.553+9G>A r.(=) p.(=) g.36022689G>A Copied from the Exome Variant Server SRC_000023 3/13006 0/8600 3/4406
?/? c.554-47C>T r.(=) p.(=) g.36024518C>T Copied from the Exome Variant Server SRC_000024 1/12942 0/8558 1/4384
?/? c.554-47_554-46insG r.(=) p.(=) g.36024518_36024519insG Copied from the Exome Variant Server SRC_000025 19/12298 12/8104 7/4194
?/? c.554-46G>A r.(=) p.(=) g.36024519G>A Copied from the Exome Variant Server SRC_000026 2/12938 2/8554 0/4384
?/? c.554-29C>T r.(=) p.(=) g.36024536C>T Copied from the Exome Variant Server SRC_000027 8/12798 2/8462 6/4336
?/? c.554-28G>C r.(=) p.(=) g.36024537G>C Copied from the Exome Variant Server SRC_000028 1/12882 1/8514 0/4368
?/? c.554-23C>T r.(=) p.(=) g.36024542C>T Copied from the Exome Variant Server SRC_000029 1/12874 0/8506 1/4368
?/? c.554-12G>C r.(=) p.(=) g.36024553G>C Copied from the Exome Variant Server SRC_000030 13/12998 13/8594 0/4404
?/? c.554-5C>T r.spl? p.? g.36024560C>T Copied from the Exome Variant Server SRC_000031 216/13006 3/8600 213/4406
?/? c.588C>T r.(=) p.(=) g.36024599C>T Copied from the Exome Variant Server SRC_000032 20/13006 17/8600 3/4406
?/? c.604G>C r.(?) p.(Val202Leu) g.36024615G>C Copied from the Exome Variant Server SRC_000033 1/13006 1/8600 0/4406
?/? c.636C>T r.(=) p.(=) g.36024647C>T Copied from the Exome Variant Server SRC_000034 1/13006 1/8600 0/4406
?/? c.666G>A r.(=) p.(=) g.36024677G>A Copied from the Exome Variant Server SRC_000035 2/13006 2/8600 0/4406
?/? c.684G>A r.(=) p.(=) g.36024695G>A Copied from the Exome Variant Server SRC_000036 13/13006 0/8600 13/4406
?/? c.695A>G r.(?) p.(Tyr232Cys) g.36024706A>G Copied from the Exome Variant Server SRC_000037 1/13006 1/8600 0/4406
?/? c.703+13C>G r.(=) p.(=) g.36024727C>G Copied from the Exome Variant Server SRC_000038 1/13006 1/8600 0/4406
?/? c.703+20C>T r.(=) p.(=) g.36024734C>T Copied from the Exome Variant Server SRC_000039 1/13006 1/8600 0/4406
?/? c.703+27C>T r.(=) p.(=) g.36024741C>T Copied from the Exome Variant Server SRC_000040 7/13006 0/8600 7/4406
?/? c.703+28G>A r.(=) p.(=) g.36024742G>A Copied from the Exome Variant Server SRC_000041 4/13002 4/8596 0/4406
?/? c.703+31C>T r.(=) p.(=) g.36024745C>T Copied from the Exome Variant Server SRC_000042 3/13002 3/8596 0/4406
?/? c.703+32G>A r.(=) p.(=) g.36024746G>A Copied from the Exome Variant Server SRC_000043 9/13000 0/8594 9/4406
?/? c.711C>T r.(=) p.(=) g.36026109C>T Copied from the Exome Variant Server SRC_000044 1/13006 1/8600 0/4406
?/? c.750G>A r.(=) p.(=) g.36026148G>A Copied from the Exome Variant Server SRC_000045 2/13004 1/8598 1/4406
?/? c.768G>C r.(?) p.(Gln256His) g.36026166G>C Copied from the Exome Variant Server SRC_000046 1/13006 1/8600 0/4406
?/? c.811C>T r.(?) p.(Arg271Trp) g.36026209C>T Copied from the Exome Variant Server SRC_000047 6/13006 5/8600 1/4406
?/? c.859+47C>T r.(=) p.(=) g.36026304C>T Copied from the Exome Variant Server SRC_000048 2/12966 2/8588 0/4378
?/? c.859+48G>T r.(=) p.(=) g.36026305G>T Copied from the Exome Variant Server SRC_000049 8/12956 2/8586 6/4370
?/? c.860-38G>T r.(=) p.(=) g.36028480G>T Copied from the Exome Variant Server SRC_000050 2/13006 2/8600 0/4406
?/? c.875C>A r.(?) p.(Thr292Asn) g.36028533C>A Copied from the Exome Variant Server SRC_000051 3/13006 0/8600 3/4406
?/? c.876C>A r.(=) p.(=) g.36028534C>A Copied from the Exome Variant Server SRC_000052 1/13006 1/8600 0/4406
?/? c.1017C>T r.(=) p.(=) g.36028675C>T Copied from the Exome Variant Server SRC_000053 1/13006 1/8600 0/4406
?/? c.1039+13C>T r.(=) p.(=) g.36028710C>T Copied from the Exome Variant Server SRC_000054 2/13006 0/8600 2/4406
?/? c.1039+14G>A r.(=) p.(=) g.36028711G>A Copied from the Exome Variant Server SRC_000055 1/13006 1/8600 0/4406
?/? c.1039+20G>C r.(=) p.(=) g.36028717G>C Copied from the Exome Variant Server SRC_000056 1/13006 0/8600 1/4406
?/? c.1039+40C>T r.(=) p.(=) g.36028737C>T Copied from the Exome Variant Server SRC_000057 24/13006 1/8600 23/4406
?/? c.1040-60A>G r.(=) p.(=) g.36029945A>G Copied from the Exome Variant Server SRC_000058 1/4566 1/3182 0/1384
?/? c.1098G>T r.(=) p.(=) g.36030063G>T Copied from the Exome Variant Server SRC_000059 1/13006 1/8600 0/4406
?/? c.1101G>A r.(=) p.(=) g.36030066G>A Copied from the Exome Variant Server SRC_000060 1/13006 0/8600 1/4406
?/? c.1116+17C>A r.(=) p.(=) g.36030098C>A Copied from the Exome Variant Server SRC_000061 3/13006 0/8600 3/4406
?/? c.1117-14G>T r.(=) p.(=) g.36030824G>T Copied from the Exome Variant Server SRC_000062 12/13006 0/8600 12/4406
?/? c.1117-9C>T r.(=) p.(=) g.36030829C>T Copied from the Exome Variant Server SRC_000063 2/13006 0/8600 2/4406
?/? c.1117-4G>A r.spl? p.? g.36030834G>A Copied from the Exome Variant Server SRC_000064 1/13006 0/8600 1/4406
?/? c.1128C>A r.(=) p.(=) g.36030849C>A Copied from the Exome Variant Server SRC_000065 9/13006 0/8600 9/4406
?/? c.1134G>A r.(=) p.(=) g.36030855G>A Copied from the Exome Variant Server SRC_000066 84/13006 0/8600 84/4406
?/? c.1137C>T r.(=) p.(=) g.36030858C>T Copied from the Exome Variant Server SRC_000067 1/13006 0/8600 1/4406
?/? c.1224T>C r.(=) p.(=) g.36030945T>C Copied from the Exome Variant Server SRC_000068 87/13006 0/8600 87/4406
?/? c.1254G>A r.(=) p.(=) g.36030975G>A Copied from the Exome Variant Server SRC_000069 40/13006 0/8600 40/4406
?/? c.1259C>T r.(?) p.(Thr420Met) g.36030980C>T Copied from the Exome Variant Server SRC_000070 1/13006 0/8600 1/4406
?/? c.1263G>A r.(=) p.(=) g.36030984G>A Copied from the Exome Variant Server SRC_000071 1/13006 0/8600 1/4406
?/? c.1270+21A>G r.(=) p.(=) g.36031012A>G Copied from the Exome Variant Server SRC_000072 2/13006 0/8600 2/4406
?/? c.1270+25C>T r.(=) p.(=) g.36031016C>T Copied from the Exome Variant Server SRC_000073 9/13006 3/8600 6/4406
?/? c.1271-49C>T r.(=) p.(=) g.36031103C>T Copied from the Exome Variant Server SRC_000074 1/13006 0/8600 1/4406
?/? c.1323C>A r.(=) p.(=) g.36031204C>A Copied from the Exome Variant Server SRC_000075 1/13006 0/8600 1/4406
?/? c.1338G>A r.(=) p.(=) g.36031219G>A Copied from the Exome Variant Server SRC_000076 1/13006 1/8600 0/4406
?/? c.1341C>T r.(=) p.(=) g.36031222C>T Copied from the Exome Variant Server SRC_000077 1/13006 1/8600 0/4406
?/? c.1353C>T r.(=) p.(=) g.36031234C>T Copied from the Exome Variant Server SRC_000078 1/13006 1/8600 0/4406
?/? c.1356G>C r.(=) p.(=) g.36031237G>C Copied from the Exome Variant Server SRC_000079 1/13006 0/8600 1/4406
?/? c.1359C>T r.(=) p.(=) g.36031240C>T Copied from the Exome Variant Server SRC_000080 2/13006 0/8600 2/4406
?/? c.1402+31C>T r.(=) p.(=) g.36031314C>T Copied from the Exome Variant Server SRC_000081 1/13006 0/8600 1/4406
?/? c.1403-36C>T r.(=) p.(=) g.36031538C>T Copied from the Exome Variant Server SRC_000082 2/12424 2/8232 0/4192
?/? c.1403-30C>T r.(=) p.(=) g.36031544C>T Copied from the Exome Variant Server SRC_000083 18/12566 3/8326 15/4240
?/? c.1467G>A r.(=) p.(=) g.36031638G>A Copied from the Exome Variant Server SRC_000084 2/12978 0/8584 2/4394
?/? c.1572G>A r.(=) p.(=) g.36031743G>A Copied from the Exome Variant Server SRC_000085 1/13000 0/8600 1/4400
?/? c.1608C>G r.(=) p.(=) g.36031779C>G Copied from the Exome Variant Server SRC_000086 1/12994 0/8600 1/4394
?/? c.*8C>T r.(=) p.(=) g.36031790C>T Copied from the Exome Variant Server SRC_000087 8/12988 0/8598 8/4390
?/? c.*9G>A r.(=) p.(=) g.36031791G>A Copied from the Exome Variant Server SRC_000088 2/12984 2/8594 0/4390
?/? c.*19C>T r.(=) p.(=) g.36031801C>T Copied from the Exome Variant Server SRC_000089 1/12946 1/8564 0/4382
?/? c.*27C>T r.(=) p.(=) g.36031809C>T Copied from the Exome Variant Server SRC_000090 1/12896 0/8532 1/4364
?/? c.*42G>T r.(=) p.(=) g.36031824G>T Copied from the Exome Variant Server SRC_000091 1/12678 0/8386 1/4292
Legend