Full data view for gene SPTLC1

Information The variants shown are described using the NM_006415.2 transcript reference sequence.

112 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-29A>G r.(=) p.(=) g.94877681T>C Copied from the Exome Variant Server SPTLC1_000112 1/12978 1/8578 0/4400 - - - - - - -
?/? c.57+20C>T r.(=) p.(=) g.94877576G>A Copied from the Exome Variant Server SPTLC1_000111 3/12988 0/8588 3/4400 - - - - - - -
?/? c.57+25C>T r.(=) p.(=) g.94877571G>A Copied from the Exome Variant Server SPTLC1_000110 1/12980 1/8580 0/4400 - - - - - - -
?/? c.58-37A>G r.(=) p.(=) g.94874881T>C Copied from the Exome Variant Server SPTLC1_000109 2/13002 1/8598 1/4404 - - - - - - -
?/? c.58-23_58-22insA r.(=) p.(=) g.94874866_94874867insT Copied from the Exome Variant Server SPTLC1_000108 4/12516 1/8252 3/4264 - - - - - - -
?/? c.58-19G>C r.(=) p.(=) g.94874863C>G Copied from the Exome Variant Server SPTLC1_000107 1/13004 1/8598 0/4406 - - - - - - -
?/? c.120C>G r.(?) p.(Phe40Leu) g.94874782G>C Copied from the Exome Variant Server SPTLC1_000106 5/13002 1/8596 4/4406 - - - - - - -
?/? c.139del r.(?) p.(Gln47Lysfs*14) g.94874763del Copied from the Exome Variant Server SPTLC1_000105 1/12516 1/8252 0/4264 - - - - - - -
?/? c.165+10T>G r.(=) p.(=) g.94874727A>C Copied from the Exome Variant Server SPTLC1_000104 1/13006 0/8600 1/4406 - - - - - - -
?/? c.165+28A>G r.(=) p.(=) g.94874709T>C Copied from the Exome Variant Server SPTLC1_000103 3/13006 0/8600 3/4406 - - - - - - -
?/? c.165+35A>G r.(=) p.(=) g.94874702T>C Copied from the Exome Variant Server SPTLC1_000102 1/13000 0/8598 1/4402 - - - - - - -
?/? c.165+43A>G r.(=) p.(=) g.94874694T>C Copied from the Exome Variant Server SPTLC1_000101 5/12996 3/8596 2/4400 - - - - - - -
?/? c.238C>G r.(?) p.(Leu80Val) g.94871044G>C Copied from the Exome Variant Server SPTLC1_000100 1/12964 1/8560 0/4404 - - - - - - -
?/? c.252C>T r.(=) p.(=) g.94871030G>A Copied from the Exome Variant Server SPTLC1_000099 2/12962 1/8560 1/4402 - - - - - - -
?/? c.261-13A>G r.(=) p.(=) g.94843258T>C Copied from the Exome Variant Server SPTLC1_000098 1/13006 1/8600 0/4406 - - - - - - -
?/? c.261-9_261-3del r.spl? p.? g.94843248_94843254del Copied from the Exome Variant Server SPTLC1_000097 1/12518 0/8254 1/4264 - - - - - - -
?/? c.261C>T r.(=) p.(=) g.94843245G>A Copied from the Exome Variant Server SPTLC1_000096 18/13006 0/8600 18/4406 - - - - - - -
?/? c.310G>A r.(?) p.(Ala104Thr) g.94843196C>T Copied from the Exome Variant Server SPTLC1_000095 2/13006 1/8600 1/4406 - - - - - - -
?/? c.354+45T>G r.(=) p.(=) g.94843107A>C Copied from the Exome Variant Server SPTLC1_000094 22/13006 1/8600 21/4406 - - - - - - -
?/? c.355-47C>T r.(=) p.(=) g.94842417G>A Copied from the Exome Variant Server SPTLC1_000093 1/12992 0/8600 1/4392 - - - - - - -
?/? c.387C>T r.(=) p.(=) g.94842338G>A Copied from the Exome Variant Server SPTLC1_000092 2/13006 2/8600 0/4406 - - - - - - -
?/? c.427+15T>C r.(=) p.(=) g.94842283A>G Copied from the Exome Variant Server SPTLC1_000091 2/13006 0/8600 2/4406 - - - - - - -
?/? c.427+42T>C r.(=) p.(=) g.94842256A>G Copied from the Exome Variant Server SPTLC1_000090 2/13006 2/8600 0/4406 - - - - - - -
?/? c.427+43A>T r.(=) p.(=) g.94842255T>A Copied from the Exome Variant Server SPTLC1_000089 2/13006 0/8600 2/4406 - - - - - - -
?/? c.427+54A>G r.(=) p.(=) g.94842244T>C Copied from the Exome Variant Server SPTLC1_000088 1/4566 1/3182 0/1384 - - - - - - -
?/? c.427+361C>T r.(=) p.(=) g.94841937G>A Copied from the Exome Variant Server SPTLC1_000087 231/4566 194/3182 37/1384 - - - - - - -
?/? c.427+446C>T r.(=) p.(=) g.94841852G>A Copied from the Exome Variant Server SPTLC1_000086 8/13006 7/8600 1/4406 - - - - - - -
?/? c.427+462G>A r.(=) p.(=) g.94841836C>T Copied from the Exome Variant Server SPTLC1_000085 2/13006 2/8600 0/4406 - - - - - - -
?/? c.427+493C>T r.(=) p.(=) g.94841805G>A Copied from the Exome Variant Server SPTLC1_000084 1/13006 1/8600 0/4406 - - - - - - -
?/? c.428-27A>T r.(=) p.(=) g.94830407T>A Copied from the Exome Variant Server SPTLC1_000083 1/13004 1/8598 0/4406 - - - - - - -
?/? c.431T>A r.(?) p.(Val144Asp) g.94830377A>T Copied from the Exome Variant Server SPTLC1_000082 1/13006 1/8600 0/4406 - - - - - - -
?/? c.442T>G r.(?) p.(Leu148Val) g.94830366A>C Copied from the Exome Variant Server SPTLC1_000081 1/13006 1/8600 0/4406 - - - - - - -
?/? c.451C>T r.(?) p.(Arg151Cys) g.94830357G>A Copied from the Exome Variant Server SPTLC1_000080 1/13006 1/8600 0/4406 - - - - - - -
?/? c.452G>T r.(?) p.(Arg151Leu) g.94830356C>A Copied from the Exome Variant Server SPTLC1_000079 268/13006 250/8600 18/4406 - - - - - - -
?/? c.501A>G r.(=) p.(=) g.94830307T>C Copied from the Exome Variant Server SPTLC1_000078 1/13006 1/8600 0/4406 - - - - - - -
?/? c.560+16G>C r.(=) p.(=) g.94830232C>G Copied from the Exome Variant Server SPTLC1_000076 2223/13006 840/8600 1383/4406 - - - - - - -
?/? c.560+52G>A r.(=) p.(=) g.94830196C>T Copied from the Exome Variant Server SPTLC1_000074 2/5734 0/3982 2/1752 - - - - - - -
?/? c.561-46G>C r.(=) p.(=) g.94821636C>G Copied from the Exome Variant Server SPTLC1_000077 1/13006 1/8600 0/4406 - - - - - - -
?/? c.561-4G>C r.spl? p.? g.94821594C>G Copied from the Exome Variant Server SPTLC1_000075 1/13006 0/8600 1/4406 - - - - - - -
?/? c.609T>C r.(=) p.(=) g.94821542A>G Copied from the Exome Variant Server SPTLC1_000073 1/13006 1/8600 0/4406 - - - - - - -
?/? c.654G>A r.(=) p.(=) g.94821497C>T Copied from the Exome Variant Server SPTLC1_000072 1/13006 1/8600 0/4406 - - - - - - -
?/? c.656G>A r.(?) p.(Arg219Gln) g.94821495C>T Copied from the Exome Variant Server SPTLC1_000071 1/13006 1/8600 0/4406 - - - - - - -
?/? c.690+21A>G r.(=) p.(=) g.94821440T>C Copied from the Exome Variant Server SPTLC1_000070 1/13006 0/8600 1/4406 - - - - - - -
?/? c.691-56_691-55insTCT r.(=) p.(=) g.94817831_94817832insAGA Copied from the Exome Variant Server SPTLC1_000069 1/12518 1/8254 0/4264 - - - - - - -
?/? c.726T>C r.(=) p.(=) g.94817741A>G Copied from the Exome Variant Server SPTLC1_000068 1/13006 0/8600 1/4406 - - - - - - -
?/? c.731T>C r.(?) p.(Val244Ala) g.94817736A>G Copied from the Exome Variant Server SPTLC1_000067 1/13006 0/8600 1/4406 - - - - - - -
?/? c.781-31A>G r.(=) p.(=) g.94812380T>C Copied from the Exome Variant Server SPTLC1_000066 1/13006 0/8600 1/4406 - - - - - - -
?/? c.781-6A>G r.(=) p.(=) g.94812355T>C Copied from the Exome Variant Server SPTLC1_000065 203/13006 181/8600 22/4406 - - - - - - -
?/? c.781-5C>T r.spl? p.? g.94812354G>A Copied from the Exome Variant Server SPTLC1_000064 1/13006 0/8600 1/4406 - - - - - - -
?/? c.784A>G r.(?) p.(Lys262Glu) g.94812346T>C Copied from the Exome Variant Server SPTLC1_000063 1/13006 1/8600 0/4406 - - - - - - -
?/? c.795C>T r.(=) p.(=) g.94812335G>A Copied from the Exome Variant Server SPTLC1_000062 6/13006 5/8600 1/4406 - - - - - - -
?/? c.888+3A>G r.spl? p.? g.94812239T>C Copied from the Exome Variant Server SPTLC1_000061 1/13006 0/8600 1/4406 - - - - - - -
?/? c.889-13_889-11del r.(=) p.(=) g.94810001_94810003del Copied from the Exome Variant Server SPTLC1_000060 2/12516 1/8254 1/4262 - - - - - - -
?/? c.916A>G r.(?) p.(Asn306Asp) g.94809963T>C Copied from the Exome Variant Server SPTLC1_000059 1/13006 0/8600 1/4406 - - - - - - -
?/? c.940A>G r.(?) p.(Ile314Val) g.94809939T>C Copied from the Exome Variant Server SPTLC1_000058 1/13006 0/8600 1/4406 - - - - - - -
?/? c.984+22G>A r.(=) p.(=) g.94809873C>T Copied from the Exome Variant Server SPTLC1_000057 5/13006 0/8600 5/4406 - - - - - - -
?/? c.984+30A>G r.(=) p.(=) g.94809865T>C Copied from the Exome Variant Server SPTLC1_000056 4/13006 4/8600 0/4406 - - - - - - -
?/? c.985-26A>G r.(=) p.(=) g.94809576T>C Copied from the Exome Variant Server SPTLC1_000055 2/13006 0/8600 2/4406 - - - - - - -
?/? c.985-24_985-23del r.(=) p.(=) g.94809573_94809574del Copied from the Exome Variant Server SPTLC1_000054 1/12518 0/8254 1/4264 - - - - - - -
?/? c.985-5C>T r.spl? p.? g.94809555G>A Copied from the Exome Variant Server SPTLC1_000053 46/13006 1/8600 45/4406 - - - - - - -
?/? c.993C>T r.(=) p.(=) g.94809542G>A Copied from the Exome Variant Server SPTLC1_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1019C>T r.(?) p.(Ser340Leu) g.94809516G>A Copied from the Exome Variant Server SPTLC1_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1020G>A r.(=) p.(=) g.94809515C>T Copied from the Exome Variant Server SPTLC1_000050 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1028C>T r.(?) p.(Pro343Leu) g.94809507G>A Copied from the Exome Variant Server SPTLC1_000049 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1029C>A r.(=) p.(=) g.94809506G>T Copied from the Exome Variant Server SPTLC1_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1061A>G r.(?) p.(Asn354Ser) g.94809474T>C Copied from the Exome Variant Server SPTLC1_000047 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1066A>G r.(?) p.(Met356Val) g.94809469T>C Copied from the Exome Variant Server SPTLC1_000046 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1081+42del r.(=) p.(=) g.94809412del Copied from the Exome Variant Server SPTLC1_000045 41/12518 33/8254 8/4264 - - - - - - -
?/? c.1081+47G>A r.(=) p.(=) g.94809407C>T Copied from the Exome Variant Server SPTLC1_000044 19/13006 1/8600 18/4406 - - - - - - -
?/? c.1082-47C>G r.(=) p.(=) g.94808382G>C Copied from the Exome Variant Server SPTLC1_000043 1/12988 1/8590 0/4398 - - - - - - -
?/? c.1082-42A>G r.(=) p.(=) g.94808377T>C Copied from the Exome Variant Server SPTLC1_000042 1/12996 0/8594 1/4402 - - - - - - -
?/? c.1082-46_1082-41del r.(=) p.(=) g.94808376_94808381del Copied from the Exome Variant Server SPTLC1_000041 4/12506 3/8248 1/4258 - - - - - - -
?/? c.1082-7C>A r.(=) p.(=) g.94808342G>T Copied from the Exome Variant Server SPTLC1_000040 3/13000 0/8596 3/4404 - - - - - - -
?/? c.1082G>A r.(?) p.(Gly361Asp) g.94808335C>T Copied from the Exome Variant Server SPTLC1_000039 1/12998 0/8596 1/4402 - - - - - - -
?/? c.1111G>A r.(?) p.(Gly371Arg) g.94808306C>T Copied from the Exome Variant Server SPTLC1_000038 2/13000 0/8596 2/4404 - - - - - - -
?/? c.1133A>G r.(?) p.(Gln378Arg) g.94808284T>C Copied from the Exome Variant Server SPTLC1_000037 1/13002 1/8598 0/4404 - - - - - - -
?/? c.1135G>A r.(?) p.(Gly379Ser) g.94808282C>T Copied from the Exome Variant Server SPTLC1_000036 1/13002 1/8598 0/4404 - - - - - - -
?/? c.1136+12A>G r.(=) p.(=) g.94808269T>C Copied from the Exome Variant Server SPTLC1_000035 622/13000 7/8598 615/4402 - - - - - - -
?/? c.1136+21A>G r.(=) p.(=) g.94808260T>C Copied from the Exome Variant Server SPTLC1_000034 1/12996 0/8598 1/4398 - - - - - - -
?/? c.1136+24A>G r.(=) p.(=) g.94808257T>C Copied from the Exome Variant Server SPTLC1_000033 1/12996 1/8598 0/4398 - - - - - - -
?/? c.1136+49T>A r.(=) p.(=) g.94808232A>T Copied from the Exome Variant Server SPTLC1_000032 1/12992 0/8594 1/4398 - - - - - - -
?/? c.1136+66G>A r.(=) p.(=) g.94808215C>T Copied from the Exome Variant Server SPTLC1_000031 175/4564 25/3180 150/1384 - - - - - - -
?/? c.1137-43C>G r.(=) p.(=) g.94800690G>C Copied from the Exome Variant Server SPTLC1_000030 180/13006 170/8600 10/4406 - - - - - - -
?/? c.1137-14_1137-13insGT r.(=) p.(=) g.94800660_94800661insAC Copied from the Exome Variant Server SPTLC1_000028 433/12518 7/8254 426/4264 - - - - - - -
?/? c.1137-6C>T r.(=) p.(=) g.94800653G>A Copied from the Exome Variant Server SPTLC1_000026 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1153G>A r.(?) p.(Val385Met) g.94800631C>T Copied from the Exome Variant Server SPTLC1_000024 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1160G>C r.(?) p.(Gly387Ala) g.94800624C>G Copied from the Exome Variant Server SPTLC1_000022 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1168C>T r.(?) p.(Leu390Phe) g.94800616G>A Copied from the Exome Variant Server SPTLC1_000029 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1200G>A r.(=) p.(=) g.94800584C>T Copied from the Exome Variant Server SPTLC1_000027 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1215C>G r.(=) p.(=) g.94800569G>C Copied from the Exome Variant Server SPTLC1_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1254+8del r.(=) p.(=) g.94800522del Copied from the Exome Variant Server SPTLC1_000023 1/12518 1/8254 0/4264 - - - - - - -
?/? c.1254+10C>T r.(=) p.(=) g.94800520G>A Copied from the Exome Variant Server SPTLC1_000021 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1254+31C>T r.(=) p.(=) g.94800499G>A Copied from the Exome Variant Server SPTLC1_000020 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1255-43G>A r.(=) p.(=) g.94797208C>T Copied from the Exome Variant Server SPTLC1_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1255-31G>C r.(=) p.(=) g.94797196C>G Copied from the Exome Variant Server SPTLC1_000018 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1255-7C>T r.(=) p.(=) g.94797172G>A Copied from the Exome Variant Server SPTLC1_000017 201/13006 4/8600 197/4406 - - - - - - -
?/? c.1274C>A r.(?) p.(Ala425Glu) g.94797146G>T Copied from the Exome Variant Server SPTLC1_000016 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1288C>T r.(?) p.(Arg430Cys) g.94797132G>A Copied from the Exome Variant Server SPTLC1_000015 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1296G>A r.(=) p.(=) g.94797124C>T Copied from the Exome Variant Server SPTLC1_000014 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1305_1307del r.(?) p.(Glu436del) g.94797113_94797115del Copied from the Exome Variant Server SPTLC1_000013 1/12518 1/8254 0/4264 - - - - - - -
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