NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe)
|
rs142553916
|
0.00131
|
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys)
|
rs80338794
|
0.00049
|
NM_012434.5(SLC17A5):c.1295T>C (p.Phe432Ser)
|
rs200632199
|
0.00032
|
NM_012434.5(SLC17A5):c.1432G>A (p.Ala478Thr)
|
rs141341430
|
0.00028
|
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter)
|
rs201284672
|
0.00013
|
NM_012434.5(SLC17A5):c.1316T>C (p.Val439Ala)
|
rs573439155
|
0.00007
|
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu)
|
rs80338795
|
0.00007
|
NM_012434.5(SLC17A5):c.1148G>C (p.Gly383Ala)
|
rs372477546
|
0.00006
|
NM_012434.5(SLC17A5):c.533del (p.Thr178fs)
|
rs727504156
|
0.00006
|
NM_012434.5(SLC17A5):c.704C>T (p.Thr235Ile)
|
rs540645365
|
0.00004
|
NM_012434.5(SLC17A5):c.1192A>G (p.Ile398Val)
|
rs374771372
|
0.00003
|
NM_012434.5(SLC17A5):c.1056A>C (p.Leu352Phe)
|
rs985998169
|
0.00002
|
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=)
|
rs386833990
|
0.00002
|
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer)
|
rs386833992
|
0.00002
|
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His)
|
rs769235753
|
0.00001
|
NM_012434.5(SLC17A5):c.1322C>T (p.Pro441Leu)
|
rs1214170788
|
0.00001
|
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs)
|
rs1234745577
|
0.00001
|
NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro)
|
rs587779410
|
0.00001
|
NM_012434.5(SLC17A5):c.667dup (p.Tyr223fs)
|
rs1472109408
|
0.00001
|
NM_012434.5(SLC17A5):c.93C>T (p.Ala31=)
|
rs1347154246
|
0.00001
|
NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg)
|
rs119491110
|
|
NM_012434.5(SLC17A5):c.110C>T (p.Ser37Phe)
|
|
|
NM_012434.5(SLC17A5):c.1111+1G>T
|
rs777862172
|
|
NM_012434.5(SLC17A5):c.1112-8A>C
|
rs1581962639
|
|
NM_012434.5(SLC17A5):c.1118T>C (p.Ile373Thr)
|
|
|
NM_012434.5(SLC17A5):c.1119T>G (p.Ile373Met)
|
|
|
NM_012434.5(SLC17A5):c.1123C>T (p.Pro375Ser)
|
|
|
NM_012434.5(SLC17A5):c.1238A>G (p.Asn413Ser)
|
|
|
NM_012434.5(SLC17A5):c.1250T>C (p.Ile417Thr)
|
|
|
NM_012434.5(SLC17A5):c.1260-2A>C
|
|
|
NM_012434.5(SLC17A5):c.1260G>C (p.Ser420=)
|
rs760766672
|
|
NM_012434.5(SLC17A5):c.1375G>A (p.Val459Met)
|
|
|
NM_012434.5(SLC17A5):c.1414A>G (p.Ile472Val)
|
|
|
NM_012434.5(SLC17A5):c.1419C>G (p.Phe473Leu)
|
|
|
NM_012434.5(SLC17A5):c.144dup (p.Gly49fs)
|
rs1562000876
|
|
NM_012434.5(SLC17A5):c.16C>T (p.Arg6Ter)
|
|
|
NM_012434.5(SLC17A5):c.175A>G (p.Asn59Asp)
|
|
|
NM_012434.5(SLC17A5):c.179T>C (p.Leu60Pro)
|
|
|
NM_012434.5(SLC17A5):c.1A>T (p.Met1Leu)
|
rs1304456183
|
|
NM_012434.5(SLC17A5):c.1del (p.Met1*)
|
|
|
NM_012434.5(SLC17A5):c.229A>G (p.Asn77Asp)
|
|
|
NM_012434.5(SLC17A5):c.244G>C (p.Ala82Pro)
|
rs199727701
|
|
NM_012434.5(SLC17A5):c.262G>A (p.Ala88Thr)
|
|
|
NM_012434.5(SLC17A5):c.281A>G (p.His94Arg)
|
|
|
NM_012434.5(SLC17A5):c.286C>T (p.Gln96Ter)
|
|
|
NM_012434.5(SLC17A5):c.290C>T (p.Thr97Met)
|
|
|
NM_012434.5(SLC17A5):c.294_310del
|
|
|
NM_012434.5(SLC17A5):c.307T>C (p.Trp103Arg)
|
|
|
NM_012434.5(SLC17A5):c.394A>C (p.Lys132Gln)
|
|
|
NM_012434.5(SLC17A5):c.418G>T (p.Gly140Ter)
|
|
|
NM_012434.5(SLC17A5):c.421T>C (p.Phe141Leu)
|
|
|
NM_012434.5(SLC17A5):c.431T>G (p.Leu144Arg)
|
|
|
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter)
|
rs727504157
|
|
NM_012434.5(SLC17A5):c.4del (p.Arg2fs)
|
|
|
NM_012434.5(SLC17A5):c.501_502del (p.Arg168fs)
|
|
|
NM_012434.5(SLC17A5):c.525+3A>G
|
|
|
NM_012434.5(SLC17A5):c.525+4A>G
|
|
|
NM_012434.5(SLC17A5):c.525+6T>C
|
|
|
NM_012434.5(SLC17A5):c.543dup (p.Met182fs)
|
|
|
NM_012434.5(SLC17A5):c.558G>A (p.Trp186Ter)
|
|
|
NM_012434.5(SLC17A5):c.575C>G (p.Pro192Arg)
|
|
|
NM_012434.5(SLC17A5):c.575dup (p.Leu193fs)
|
|
|
NM_012434.5(SLC17A5):c.57_72del (p.Thr20fs)
|
|
|
NM_012434.5(SLC17A5):c.590A>G (p.Lys197Arg)
|
|
|
NM_012434.5(SLC17A5):c.59C>A (p.Thr20Lys)
|
|
|
NM_012434.5(SLC17A5):c.619C>T (p.Gln207Ter)
|
rs1769021763
|
|
NM_012434.5(SLC17A5):c.677G>A (p.Trp226Ter)
|
|
|
NM_012434.5(SLC17A5):c.694_695delinsC (p.Phe232fs)
|
|
|
NM_012434.5(SLC17A5):c.71C>T (p.Pro24Leu)
|
|
|
NM_012434.5(SLC17A5):c.724_727del (p.Leu242fs)
|
|
|
NM_012434.5(SLC17A5):c.738G>A (p.Trp246Ter)
|
rs755923873
|
|
NM_012434.5(SLC17A5):c.760A>G (p.Lys254Glu)
|
|
|
NM_012434.5(SLC17A5):c.775T>C (p.Ser259Pro)
|
|
|
NM_012434.5(SLC17A5):c.77C>A (p.Ala26Asp)
|
|
|
NM_012434.5(SLC17A5):c.782A>G (p.Tyr261Cys)
|
|
|
NM_012434.5(SLC17A5):c.790G>T (p.Glu264Ter)
|
|
|
NM_012434.5(SLC17A5):c.802T>C (p.Ser268Pro)
|
|
|
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del)
|
rs386833994
|
|
NM_012434.5(SLC17A5):c.819+1G>A
|
rs1057517028
|
|
NM_012434.5(SLC17A5):c.819G>T (p.Gln273His)
|
|
|
NM_012434.5(SLC17A5):c.829C>T (p.Gln277Ter)
|
rs1768174708
|
|
NM_012434.5(SLC17A5):c.872T>A (p.Leu291His)
|
|
|
NM_012434.5(SLC17A5):c.905del (p.Asn302fs)
|
rs771156053
|
|
NM_012434.5(SLC17A5):c.94G>T (p.Ala32Ser)
|
|
|
NM_012434.5(SLC17A5):c.979-1G>T
|
|
|
NM_012434.5(SLC17A5):c.985T>C (p.Phe329Leu)
|
|
|