All transcript variants in gene STS

Information The variants shown are described using the NM_000351.4 transcript reference sequence.

90 entries on 1 page. Showing entries 1 - 90.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-41A>G r.(=) p.(=) g.7137676A>G Copied from the Exome Variant Server STS_000001 1/10562 0/6727 1/3835
?/? c.11+6C>T r.(=) p.(=) g.7137733C>T Copied from the Exome Variant Server STS_000002 2/10562 2/6727 0/3835
?/? c.11+7G>A r.(=) p.(=) g.7137734G>A Copied from the Exome Variant Server STS_000003 2/10562 0/6727 2/3835
?/? c.46C>A r.(?) p.(Leu16Met) g.7171271C>A Copied from the Exome Variant Server STS_000004 1/10562 0/6727 1/3835
?/? c.58G>A r.(?) p.(Glu20Lys) g.7171283G>A Copied from the Exome Variant Server STS_000005 3/10562 0/6727 3/3835
?/? c.66C>T r.(=) p.(=) g.7171291C>T Copied from the Exome Variant Server STS_000006 1/10562 0/6727 1/3835
?/? c.85A>G r.(?) p.(Ile29Val) g.7171310A>G Copied from the Exome Variant Server STS_000007 1/10562 1/6727 0/3835
?/? c.105C>T r.(=) p.(=) g.7171330C>T Copied from the Exome Variant Server STS_000008 4/10562 3/6727 1/3835
?/? c.153-8T>A r.(=) p.(=) g.7175275T>A Copied from the Exome Variant Server STS_000009 1/10561 1/6727 0/3834
?/? c.153G>A r.(=) p.(=) g.7175283G>A Copied from the Exome Variant Server STS_000010 2/10561 0/6726 2/3835
?/? c.182G>T r.(?) p.(Gly61Val) g.7175312G>T Copied from the Exome Variant Server STS_000011 4/10562 3/6727 1/3835
?/? c.204C>T r.(=) p.(=) g.7175334C>T Copied from the Exome Variant Server STS_000012 1/10562 0/6727 1/3835
?/? c.247A>G r.(?) p.(Met83Val) g.7175377A>G Copied from the Exome Variant Server STS_000013 1/10562 0/6727 1/3835
?/? c.274+5_274+7del r.spl? p.? g.7175409_7175411del Copied from the Exome Variant Server STS_000014 57/10204 52/6483 5/3721
?/? c.274+20G>A r.(=) p.(=) g.7175424G>A Copied from the Exome Variant Server STS_000015 1/10562 0/6727 1/3835
?/? c.274+41G>A r.(=) p.(=) g.7175445G>A Copied from the Exome Variant Server STS_000016 1/10562 0/6727 1/3835
?/? c.275-41G>T r.(=) p.(=) g.7175466G>T Copied from the Exome Variant Server STS_000017 1/10562 1/6727 0/3835
?/? c.275-11T>C r.(=) p.(=) g.7175496T>C Copied from the Exome Variant Server STS_000018 1/10562 0/6727 1/3835
?/? c.275-5T>G r.spl? p.? g.7175502T>G Copied from the Exome Variant Server STS_000019 1/10562 0/6727 1/3835
?/? c.293G>A r.(?) p.(Arg98His) g.7175525G>A Copied from the Exome Variant Server STS_000020 3/10562 0/6727 3/3835
?/? c.303T>C r.(=) p.(=) g.7175535T>C Copied from the Exome Variant Server STS_000021 2/10562 2/6727 0/3835
?/? c.309C>T r.(=) p.(=) g.7175541C>T Copied from the Exome Variant Server STS_000022 2/10562 0/6727 2/3835
?/? c.337A>G r.(?) p.(Thr113Ala) g.7175569A>G Copied from the Exome Variant Server STS_000023 1/10562 1/6727 0/3835
?/? c.339C>T r.(=) p.(=) g.7175571C>T Copied from the Exome Variant Server STS_000024 1/10562 1/6727 0/3835
?/? c.397+26C>T r.(=) p.(=) g.7175655C>T Copied from the Exome Variant Server STS_000025 5/10562 0/6727 5/3835
?/? c.397+35G>A r.(=) p.(=) g.7175664G>A Copied from the Exome Variant Server STS_000026 1/10562 0/6727 1/3835
?/? c.397+49G>C r.(=) p.(=) g.7175678G>C Copied from the Exome Variant Server STS_000027 1/10562 0/6727 1/3835
?/? c.398-36A>G r.(=) p.(=) g.7177354A>G Copied from the Exome Variant Server STS_000028 2/10562 1/6727 1/3835
?/? c.398-20T>A r.(=) p.(=) g.7177370T>A Copied from the Exome Variant Server STS_000029 1/10562 1/6727 0/3835
?/? c.398-16C>T r.(=) p.(=) g.7177374C>T Copied from the Exome Variant Server STS_000030 36/10562 34/6727 2/3835
?/? c.462C>T r.(=) p.(=) g.7177454C>T Copied from the Exome Variant Server STS_000031 1/10562 1/6727 0/3835
?/? c.470A>G r.(?) p.(Asn157Ser) g.7177462A>G Copied from the Exome Variant Server STS_000032 7/10562 0/6727 7/3835
?/? c.518G>C r.(?) p.(Gly173Ala) g.7177510G>C Copied from the Exome Variant Server STS_000033 1/10562 0/6727 1/3835
?/? c.525C>G r.(=) p.(=) g.7177517C>G Copied from the Exome Variant Server STS_000034 1/10562 0/6727 1/3835
?/? c.540G>A r.(=) p.(=) g.7177532G>A Copied from the Exome Variant Server STS_000035 3/10562 0/6727 3/3835
?/? c.567C>G r.(=) p.(=) g.7177559C>G Copied from the Exome Variant Server STS_000036 1/10562 1/6727 0/3835
?/? c.580G>A r.(?) p.(Gly194Arg) g.7177572G>A Copied from the Exome Variant Server STS_000037 1/10562 1/6727 0/3835
?/? c.603T>C r.(=) p.(=) g.7177595T>C Copied from the Exome Variant Server STS_000038 1/10562 1/6727 0/3835
?/? c.633G>A r.(=) p.(=) g.7177625G>A Copied from the Exome Variant Server STS_000039 1/10562 1/6727 0/3835
?/? c.711C>T r.(=) p.(=) g.7177703C>T Copied from the Exome Variant Server STS_000040 1/10562 0/6727 1/3835
?/? c.713G>A r.(?) p.(Arg238Gln) g.7177705G>A Copied from the Exome Variant Server STS_000041 1/10562 0/6727 1/3835
?/? c.715C>G r.(?) p.(Pro239Ala) g.7177707C>G Copied from the Exome Variant Server STS_000042 1/10562 1/6727 0/3835
?/? c.770A>T r.(?) p.(Tyr257Phe) g.7177762A>T Copied from the Exome Variant Server STS_000043 6/10562 0/6727 6/3835
?/? c.804G>A r.(=) p.(=) g.7177796G>A Copied from the Exome Variant Server STS_000044 1/10562 1/6727 0/3835
?/? c.820C>T r.(?) p.(Arg274Trp) g.7177812C>T Copied from the Exome Variant Server STS_000045 2/10562 0/6727 2/3835
?/? c.821+10G>A r.(=) p.(=) g.7177823G>A Copied from the Exome Variant Server STS_000046 1/10562 0/6727 1/3835
?/? c.822-36_822-35insT r.(=) p.(=) g.7193956_7193957insT Copied from the Exome Variant Server STS_000047 72/9901 47/6266 25/3635
?/? c.836C>T r.(?) p.(Pro279Leu) g.7194006C>T Copied from the Exome Variant Server STS_000048 2/10560 1/6725 1/3835
?/? c.837G>A r.(=) p.(=) g.7194007G>A Copied from the Exome Variant Server STS_000049 1/10562 1/6727 0/3835
?/? c.864C>T r.(=) p.(=) g.7194034C>T Copied from the Exome Variant Server STS_000050 1/10562 0/6727 1/3835
?/? c.913C>T r.(?) p.(His305Tyr) g.7194083C>T Copied from the Exome Variant Server STS_000051 1/10562 1/6727 0/3835
?/? c.919G>A r.(?) p.(Val307Ile) g.7194089G>A Copied from the Exome Variant Server STS_000052 249/10562 2/6727 247/3835
?/? c.959-50T>C r.(=) p.(=) g.7223037T>C Copied from the Exome Variant Server STS_000053 2/10561 0/6726 2/3835
?/? c.959-30A>G r.(=) p.(=) g.7223057A>G Copied from the Exome Variant Server STS_000054 4/10562 4/6727 0/3835
?/? c.959-10T>C r.(=) p.(=) g.7223077T>C Copied from the Exome Variant Server STS_000055 12/10562 11/6727 1/3835
?/? c.989G>C r.(?) p.(Arg330Thr) g.7223117G>C Copied from the Exome Variant Server STS_000056 1/10562 0/6727 1/3835
?/? c.1004C>T r.(?) p.(Thr335Ile) g.7223132C>T Copied from the Exome Variant Server STS_000057 2/10562 0/6727 2/3835
?/? c.1053T>C r.(=) p.(=) g.7223181T>C Copied from the Exome Variant Server STS_000058 1/10562 0/6727 1/3835
?/? c.1086G>T r.(=) p.(=) g.7223214G>T Copied from the Exome Variant Server STS_000059 2/10562 0/6727 2/3835
?/? c.1096G>A r.(?) p.(Gly366Arg) g.7223224G>A Copied from the Exome Variant Server STS_000060 1/10562 1/6727 0/3835
?/? c.1096+45C>T r.(=) p.(=) g.7223269C>T Copied from the Exome Variant Server STS_000061 1/10562 1/6727 0/3835
?/? c.1097-46G>C r.(=) p.(=) g.7243334G>C Copied from the Exome Variant Server STS_000062 1/10561 1/6726 0/3835
?/? c.1097-28G>T r.(=) p.(=) g.7243352G>T Copied from the Exome Variant Server STS_000063 1/10562 1/6727 0/3835
?/? c.1139G>C r.(?) p.(Gly380Ala) g.7243422G>C Copied from the Exome Variant Server STS_000064 5/10562 5/6727 0/3835
?/? c.1148G>A r.(?) p.(Arg383His) g.7243431G>A Copied from the Exome Variant Server STS_000065 4/10562 3/6727 1/3835
?/? c.1152G>T r.(?) p.(Trp384Cys) g.7243435G>T Copied from the Exome Variant Server STS_000066 1/10562 1/6727 0/3835
?/? c.1158G>C r.(?) p.(Arg386Ser) g.7243441G>C Copied from the Exome Variant Server STS_000067 8/10562 0/6727 8/3835
?/? c.1202T>C r.(?) p.(Met401Thr) g.7243485T>C Copied from the Exome Variant Server STS_000068 1/10562 1/6727 0/3835
?/? c.1227G>C r.(?) p.(Lys409Asn) g.7243510G>C Copied from the Exome Variant Server STS_000069 14/10562 0/6727 14/3835
?/? c.1230G>C r.(=) p.(=) g.7243513G>C Copied from the Exome Variant Server STS_000070 1/10562 1/6727 0/3835
?/? c.1253A>G r.(?) p.(Asp418Gly) g.7243536A>G Copied from the Exome Variant Server STS_000071 11/10562 8/6727 3/3835
?/? c.1256+20G>C r.(=) p.(=) g.7243559G>C Copied from the Exome Variant Server STS_000072 10/10562 0/6727 10/3835
?/? c.1256+34G>C r.(=) p.(=) g.7243573G>C Copied from the Exome Variant Server STS_000073 1/10562 0/6727 1/3835
?/? c.1280T>C r.(?) p.(Met427Thr) g.7252050T>C Copied from the Exome Variant Server STS_000074 1/10562 1/6727 0/3835
?/? c.1307G>A r.(?) p.(Arg436His) g.7252077G>A Copied from the Exome Variant Server STS_000075 3/10562 1/6727 2/3835
?/? c.1378+23G>A r.(=) p.(=) g.7252171G>A Copied from the Exome Variant Server STS_000076 1/10562 0/6727 1/3835
?/? c.1378+27C>T r.(=) p.(=) g.7252175C>T Copied from the Exome Variant Server STS_000077 1/10562 1/6727 0/3835
?/? c.1378+37G>A r.(=) p.(=) g.7252185G>A Copied from the Exome Variant Server STS_000078 35/10562 33/6727 2/3835
?/? c.1434C>T r.(=) p.(=) g.7267984C>T Copied from the Exome Variant Server STS_000079 1/10562 0/6727 1/3835
?/? c.1491C>T r.(=) p.(=) g.7268041C>T Copied from the Exome Variant Server STS_000080 7/10562 6/6727 1/3835
?/? c.1509T>G r.(?) p.(Phe503Leu) g.7268059T>G Copied from the Exome Variant Server STS_000081 1/10562 1/6727 0/3835
?/? c.1564C>T r.(?) p.(Arg522Trp) g.7268114C>T Copied from the Exome Variant Server STS_000082 4/10562 0/6727 4/3835
?/? c.1581C>T r.(=) p.(=) g.7268131C>T Copied from the Exome Variant Server STS_000083 15/10562 0/6727 15/3835
?/? c.1583A>G r.(?) p.(Lys528Arg) g.7268133A>G Copied from the Exome Variant Server STS_000084 1/10562 1/6727 0/3835
?/? c.1594G>A r.(?) p.(Glu532Lys) g.7268144G>A Copied from the Exome Variant Server STS_000085 1/10562 1/6727 0/3835
?/? c.1601C>T r.(?) p.(Ala534Val) g.7268151C>T Copied from the Exome Variant Server STS_000086 1/10562 1/6727 0/3835
?/? c.1611C>T r.(=) p.(=) g.7268161C>T Copied from the Exome Variant Server STS_000087 1/10562 0/6727 1/3835
?/? c.1698C>T r.(=) p.(=) g.7268248C>T Copied from the Exome Variant Server STS_000088 1/10562 1/6727 0/3835
?/? c.1726A>G r.(?) p.(Lys576Glu) g.7268276A>G Copied from the Exome Variant Server STS_000089 1/10561 1/6726 0/3835
?/? c.1746C>G r.(?) p.(Ser582Arg) g.7268296C>G Copied from the Exome Variant Server STS_000090 40/10561 0/6726 40/3835
Legend