| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.25812881_25812942del | CA645552929 | SLC17A1 | c.787_848del (p.Pro263IlefsTer13) c.*38_*99del (n.*38_*99del) c.735+154_735+215del (n.735+154_735+215del) c.700_761del (p.Pro234IlefsTer13) c.574_635del (p.Pro192IlefsTer13) c.937_998del (p.Pro313IlefsTer13) c.850_911del (p.Pro284IlefsTer13) c.885+154_885+215del (n.885+154_885+215del) c.853_914del (p.Pro285IlefsTer13) | COSMIC |
| 6 | g.25812935A>C | CA363158097 | SLC17A1 | c.793T>G (p.Trp265Gly) c.*44T>G (n.*44T>G) c.735+160T>G (n.735+160T>G) c.706T>G (p.Trp236Gly) c.580T>G (p.Trp194Gly) c.943T>G (p.Trp315Gly) c.856T>G (p.Trp286Gly) c.885+160T>G (n.885+160T>G) c.859T>G (p.Trp287Gly) | |
| 6 | g.25812935A>G | CA363158098 | SLC17A1 | c.793T>C (p.Trp265Arg) c.*44T>C (n.*44T>C) c.735+160T>C (n.735+160T>C) c.706T>C (p.Trp236Arg) c.580T>C (p.Trp194Arg) c.943T>C (p.Trp315Arg) c.856T>C (p.Trp286Arg) c.885+160T>C (n.885+160T>C) c.859T>C (p.Trp287Arg) | dbSNP gnomAD v4 |
| 6 | g.25812935A>T | CA363158099 | SLC17A1 | c.793T>A (p.Trp265Arg) c.*44T>A (n.*44T>A) c.735+160T>A (n.735+160T>A) c.706T>A (p.Trp236Arg) c.580T>A (p.Trp194Arg) c.943T>A (p.Trp315Arg) c.856T>A (p.Trp286Arg) c.885+160T>A (n.885+160T>A) c.859T>A (p.Trp287Arg) | |
| 6 | g.25812935_25812945delinsAGACTGGAAGC | CA1616765635 | SLC17A1 | c.783_793delinsGCTTCCAGTCT (p.Ser261=) c.*34_*44delinsGCTTCCAGTCT (n.*34_*44delinsGCTTCCAGTCT) c.735+150_735+160delinsGCTTCCAGTCT (n.735+150_735+160delinsGCTTCCAGTCT) c.696_706delinsGCTTCCAGTCT (p.Ser232=) c.570_580delinsGCTTCCAGTCT (p.Ser190=) c.933_943delinsGCTTCCAGTCT (p.Ser311=) c.846_856delinsGCTTCCAGTCT (p.Ser282=) c.885+150_885+160delinsGCTTCCAGTCT (n.885+150_885+160delinsGCTTCCAGTCT) c.849_859delinsGCTTCCAGTCT (p.Ser283=) | |
| 6 | g.25812936G>A | CA448980372 | SLC17A1 | c.792C>T (p.Val264=) c.*43C>T (n.*43C>T) c.735+159C>T (n.735+159C>T) c.705C>T (p.Val235=) c.579C>T (p.Val193=) c.942C>T (p.Val314=) c.855C>T (p.Val285=) c.885+159C>T (n.885+159C>T) c.858C>T (p.Val286=) | |
| 6 | g.25812936G>C | CA448980373 | SLC17A1 | c.792C>G (p.Val264=) c.*43C>G (n.*43C>G) c.735+159C>G (n.735+159C>G) c.705C>G (p.Val235=) c.579C>G (p.Val193=) c.942C>G (p.Val314=) c.855C>G (p.Val285=) c.885+159C>G (n.885+159C>G) c.858C>G (p.Val286=) | |
| 6 | g.25812936G>T | CA448980374 | SLC17A1 | c.792C>A (p.Val264=) c.*43C>A (n.*43C>A) c.735+159C>A (n.735+159C>A) c.705C>A (p.Val235=) c.579C>A (p.Val193=) c.942C>A (p.Val314=) c.855C>A (p.Val285=) c.885+159C>A (n.885+159C>A) c.858C>A (p.Val286=) | |
| 6 | g.25812940_25812949del | CA1087048872 | SLC17A1 | c.783_792del (p.Leu262GlyfsTer17) c.*34_*43del (n.*34_*43del) c.735+150_735+159del (n.735+150_735+159del) c.696_705del (p.Leu233GlyfsTer17) c.570_579del (p.Leu191GlyfsTer17) c.933_942del (p.Leu312GlyfsTer17) c.846_855del (p.Leu283GlyfsTer17) c.885+150_885+159del (n.885+150_885+159del) c.849_858del (p.Leu284GlyfsTer17) | dbSNP |
| 6 | g.25812937A>C | CA363158100 | SLC17A1 | c.791T>G (p.Val264Gly) c.*42T>G (n.*42T>G) c.735+158T>G (n.735+158T>G) c.704T>G (p.Val235Gly) c.578T>G (p.Val193Gly) c.941T>G (p.Val314Gly) c.854T>G (p.Val285Gly) c.885+158T>G (n.885+158T>G) c.857T>G (p.Val286Gly) | |
| 6 | g.25812937A>G | CA363158101 | SLC17A1 | c.791T>C (p.Val264Ala) c.*42T>C (n.*42T>C) c.735+158T>C (n.735+158T>C) c.704T>C (p.Val235Ala) c.578T>C (p.Val193Ala) c.941T>C (p.Val314Ala) c.854T>C (p.Val285Ala) c.885+158T>C (n.885+158T>C) c.857T>C (p.Val286Ala) | |
| 6 | g.25812937A>T | CA363158102 | SLC17A1 | c.791T>A (p.Val264Asp) c.*42T>A (n.*42T>A) c.735+158T>A (n.735+158T>A) c.704T>A (p.Val235Asp) c.578T>A (p.Val193Asp) c.941T>A (p.Val314Asp) c.854T>A (p.Val285Asp) c.885+158T>A (n.885+158T>A) c.857T>A (p.Val286Asp) | |
| 6 | g.25812938C>A | CA363158103 | SLC17A1 | c.790G>T (p.Val264Phe) c.*41G>T (n.*41G>T) c.735+157G>T (n.735+157G>T) c.703G>T (p.Val235Phe) c.577G>T (p.Val193Phe) c.940G>T (p.Val314Phe) c.853G>T (p.Val285Phe) c.885+157G>T (n.885+157G>T) c.856G>T (p.Val286Phe) | |
| 6 | g.25812938C= | CA1616765636 | SLC17A1 | c.790G= (p.Val264=) c.*41G= (n.*41G=) c.735+157G= (n.735+157G=) c.703G= (p.Val235=) c.577G= (p.Val193=) c.940G= (p.Val314=) c.853G= (p.Val285=) c.885+157G= (n.885+157G=) c.856G= (p.Val286=) | |
| 6 | g.25812938C>G | CA363158104 | SLC17A1 | c.790G>C (p.Val264Leu) c.*41G>C (n.*41G>C) c.735+157G>C (n.735+157G>C) c.703G>C (p.Val235Leu) c.577G>C (p.Val193Leu) c.940G>C (p.Val314Leu) c.853G>C (p.Val285Leu) c.885+157G>C (n.885+157G>C) c.856G>C (p.Val286Leu) | |
| 6 | g.25812938C>T | CA136229889 | SLC17A1 | c.790G>A (p.Val264Ile) c.*41G>A (n.*41G>A) c.735+157G>A (n.735+157G>A) c.703G>A (p.Val235Ile) c.577G>A (p.Val193Ile) c.940G>A (p.Val314Ile) c.853G>A (p.Val285Ile) c.885+157G>A (n.885+157G>A) c.856G>A (p.Val286Ile) | dbSNP |
| 6 | g.25812939T>A | CA448980375 | SLC17A1 | c.789A>T (p.Pro263=) c.*40A>T (n.*40A>T) c.735+156A>T (n.735+156A>T) c.702A>T (p.Pro234=) c.576A>T (p.Pro192=) c.939A>T (p.Pro313=) c.852A>T (p.Pro284=) c.885+156A>T (n.885+156A>T) c.855A>T (p.Pro285=) | COSMIC |
| 6 | g.25812939T>C | CA448980377 | SLC17A1 | c.789A>G (p.Pro263=) c.*40A>G (n.*40A>G) c.735+156A>G (n.735+156A>G) c.702A>G (p.Pro234=) c.576A>G (p.Pro192=) c.939A>G (p.Pro313=) c.852A>G (p.Pro284=) c.885+156A>G (n.885+156A>G) c.855A>G (p.Pro285=) | |
| 6 | g.25812939T>G | CA448980376 | SLC17A1 | c.789A>C (p.Pro263=) c.*40A>C (n.*40A>C) c.735+156A>C (n.735+156A>C) c.702A>C (p.Pro234=) c.576A>C (p.Pro192=) c.939A>C (p.Pro313=) c.852A>C (p.Pro284=) c.885+156A>C (n.885+156A>C) c.855A>C (p.Pro285=) | |
| 6 | g.25812940G>A | CA363158105 | SLC17A1 | c.788C>T (p.Pro263Leu) c.*39C>T (n.*39C>T) c.735+155C>T (n.735+155C>T) c.701C>T (p.Pro234Leu) c.575C>T (p.Pro192Leu) c.938C>T (p.Pro313Leu) c.851C>T (p.Pro284Leu) c.885+155C>T (n.885+155C>T) c.854C>T (p.Pro285Leu) | gnomAD v4 |
| 6 | g.25812940G>C | CA363158106 | SLC17A1 | c.788C>G (p.Pro263Arg) c.*39C>G (n.*39C>G) c.735+155C>G (n.735+155C>G) c.701C>G (p.Pro234Arg) c.575C>G (p.Pro192Arg) c.938C>G (p.Pro313Arg) c.851C>G (p.Pro284Arg) c.885+155C>G (n.885+155C>G) c.854C>G (p.Pro285Arg) | |
| 6 | g.25812940G>T | CA363158108 | SLC17A1 | c.788C>A (p.Pro263Gln) c.*39C>A (n.*39C>A) c.735+155C>A (n.735+155C>A) c.701C>A (p.Pro234Gln) c.575C>A (p.Pro192Gln) c.938C>A (p.Pro313Gln) c.851C>A (p.Pro284Gln) c.885+155C>A (n.885+155C>A) c.854C>A (p.Pro285Gln) | |
| 6 | g.25812940_25812944del | CA2677592042 | SLC17A1 | c.784_788del (p.Leu262SerfsTer8) c.*35_*39del (n.*35_*39del) c.735+151_735+155del (n.735+151_735+155del) c.697_701del (p.Leu233SerfsTer8) c.571_575del (p.Leu191SerfsTer8) c.934_938del (p.Leu312SerfsTer8) c.847_851del (p.Leu283SerfsTer8) c.885+151_885+155del (n.885+151_885+155del) c.850_854del (p.Leu284SerfsTer8) | gnomAD v4 |
| 6 | g.25812941G>A | CA363158110 | SLC17A1 | c.787C>T (p.Pro263Ser) c.*38C>T (n.*38C>T) c.735+154C>T (n.735+154C>T) c.700C>T (p.Pro234Ser) c.574C>T (p.Pro192Ser) c.937C>T (p.Pro313Ser) c.850C>T (p.Pro284Ser) c.885+154C>T (n.885+154C>T) c.853C>T (p.Pro285Ser) | |
| 6 | g.25812941G>C | CA363158112 | SLC17A1 | c.787C>G (p.Pro263Ala) c.*38C>G (n.*38C>G) c.735+154C>G (n.735+154C>G) c.700C>G (p.Pro234Ala) c.574C>G (p.Pro192Ala) c.937C>G (p.Pro313Ala) c.850C>G (p.Pro284Ala) c.885+154C>G (n.885+154C>G) c.853C>G (p.Pro285Ala) | |
| 6 | g.25812941G>T | CA363158113 | SLC17A1 | c.787C>A (p.Pro263Thr) c.*38C>A (n.*38C>A) c.735+154C>A (n.735+154C>A) c.700C>A (p.Pro234Thr) c.574C>A (p.Pro192Thr) c.937C>A (p.Pro313Thr) c.850C>A (p.Pro284Thr) c.885+154C>A (n.885+154C>A) c.853C>A (p.Pro285Thr) | |
| 6 | g.25812942A>C | CA448980378 | SLC17A1 | c.786T>G (p.Leu262=) c.*37T>G (n.*37T>G) c.735+153T>G (n.735+153T>G) c.699T>G (p.Leu233=) c.573T>G (p.Leu191=) c.936T>G (p.Leu312=) c.849T>G (p.Leu283=) c.885+153T>G (n.885+153T>G) c.852T>G (p.Leu284=) | |
| 6 | g.25812942A>G | CA448980379 | SLC17A1 | c.786T>C (p.Leu262=) c.*37T>C (n.*37T>C) c.735+153T>C (n.735+153T>C) c.699T>C (p.Leu233=) c.573T>C (p.Leu191=) c.936T>C (p.Leu312=) c.849T>C (p.Leu283=) c.885+153T>C (n.885+153T>C) c.852T>C (p.Leu284=) | |
| 6 | g.25812942A>T | CA448980380 | SLC17A1 | c.786T>A (p.Leu262=) c.*37T>A (n.*37T>A) c.735+153T>A (n.735+153T>A) c.699T>A (p.Leu233=) c.573T>A (p.Leu191=) c.936T>A (p.Leu312=) c.849T>A (p.Leu283=) c.885+153T>A (n.885+153T>A) c.852T>A (p.Leu284=) | |
| 6 | g.25812943A>C | CA363158115 | SLC17A1 | c.785T>G (p.Leu262Arg) c.*36T>G (n.*36T>G) c.735+152T>G (n.735+152T>G) c.698T>G (p.Leu233Arg) c.572T>G (p.Leu191Arg) c.935T>G (p.Leu312Arg) c.848T>G (p.Leu283Arg) c.885+152T>G (n.885+152T>G) c.851T>G (p.Leu284Arg) | |
| 6 | g.25812943A>G | CA363158119 | SLC17A1 | c.785T>C (p.Leu262Pro) c.*36T>C (n.*36T>C) c.735+152T>C (n.735+152T>C) c.698T>C (p.Leu233Pro) c.572T>C (p.Leu191Pro) c.935T>C (p.Leu312Pro) c.848T>C (p.Leu283Pro) c.885+152T>C (n.885+152T>C) c.851T>C (p.Leu284Pro) | gnomAD v4 |
| 6 | g.25812943A>T | CA363158117 | SLC17A1 | c.785T>A (p.Leu262His) c.*36T>A (n.*36T>A) c.735+152T>A (n.735+152T>A) c.698T>A (p.Leu233His) c.572T>A (p.Leu191His) c.935T>A (p.Leu312His) c.848T>A (p.Leu283His) c.885+152T>A (n.885+152T>A) c.851T>A (p.Leu284His) | |
| 6 | g.25812944G>A | CA3662599 | SLC17A1 | c.784C>T (p.Leu262Phe) c.*35C>T (n.*35C>T) c.735+151C>T (n.735+151C>T) c.697C>T (p.Leu233Phe) c.571C>T (p.Leu191Phe) c.934C>T (p.Leu312Phe) c.847C>T (p.Leu283Phe) c.885+151C>T (n.885+151C>T) c.850C>T (p.Leu284Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.25812944G>C | CA363158121 | SLC17A1 | c.784C>G (p.Leu262Val) c.*35C>G (n.*35C>G) c.735+151C>G (n.735+151C>G) c.697C>G (p.Leu233Val) c.571C>G (p.Leu191Val) c.934C>G (p.Leu312Val) c.847C>G (p.Leu283Val) c.885+151C>G (n.885+151C>G) c.850C>G (p.Leu284Val) | |
| 6 | g.25812944G= | CA1616765637 | SLC17A1 | c.784C= (p.Leu262=) c.*35C= (n.*35C=) c.735+151C= (n.735+151C=) c.697C= (p.Leu233=) c.571C= (p.Leu191=) c.934C= (p.Leu312=) c.847C= (p.Leu283=) c.885+151C= (n.885+151C=) c.850C= (p.Leu284=) | |
| 6 | g.25812944G>T | CA363158123 | SLC17A1 | c.784C>A (p.Leu262Ile) c.*35C>A (n.*35C>A) c.735+151C>A (n.735+151C>A) c.697C>A (p.Leu233Ile) c.571C>A (p.Leu191Ile) c.934C>A (p.Leu312Ile) c.847C>A (p.Leu283Ile) c.885+151C>A (n.885+151C>A) c.850C>A (p.Leu284Ile) | |
| 6 | g.25812945C>A | CA448980381 | SLC17A1 | c.783G>T (p.Ser261=) c.*34G>T (n.*34G>T) c.735+150G>T (n.735+150G>T) c.696G>T (p.Ser232=) c.570G>T (p.Ser190=) c.933G>T (p.Ser311=) c.846G>T (p.Ser282=) c.885+150G>T (n.885+150G>T) c.849G>T (p.Ser283=) | |
| 6 | g.25812945C= | CA1616765638 | SLC17A1 | c.783G= (p.Ser261=) c.*34G= (n.*34G=) c.735+150G= (n.735+150G=) c.696G= (p.Ser232=) c.570G= (p.Ser190=) c.933G= (p.Ser311=) c.846G= (p.Ser282=) c.885+150G= (n.885+150G=) c.849G= (p.Ser283=) | |
| 6 | g.25812945C>G | CA448980382 | SLC17A1 | c.783G>C (p.Ser261=) c.*34G>C (n.*34G>C) c.735+150G>C (n.735+150G>C) c.696G>C (p.Ser232=) c.570G>C (p.Ser190=) c.933G>C (p.Ser311=) c.846G>C (p.Ser282=) c.885+150G>C (n.885+150G>C) c.849G>C (p.Ser283=) | |
| 6 | g.25812945C>T | CA3662600 | SLC17A1 | c.783G>A (p.Ser261=) c.*34G>A (n.*34G>A) c.735+150G>A (n.735+150G>A) c.696G>A (p.Ser232=) c.570G>A (p.Ser190=) c.933G>A (p.Ser311=) c.846G>A (p.Ser282=) c.885+150G>A (n.885+150G>A) c.849G>A (p.Ser283=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.25812946G>A | CA3662601 | SLC17A1 | c.782C>T (p.Ser261Leu) c.*33C>T (n.*33C>T) c.735+149C>T (n.735+149C>T) c.695C>T (p.Ser232Leu) c.569C>T (p.Ser190Leu) c.932C>T (p.Ser311Leu) c.845C>T (p.Ser282Leu) c.885+149C>T (n.885+149C>T) c.848C>T (p.Ser283Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.25812946G>C | CA363158127 | SLC17A1 | c.782C>G (p.Ser261Trp) c.*33C>G (n.*33C>G) c.735+149C>G (n.735+149C>G) c.695C>G (p.Ser232Trp) c.569C>G (p.Ser190Trp) c.932C>G (p.Ser311Trp) c.845C>G (p.Ser282Trp) c.885+149C>G (n.885+149C>G) c.848C>G (p.Ser283Trp) | |
| 6 | g.25812946G= | CA1616765639 | SLC17A1 | c.782C= (p.Ser261=) c.*33C= (n.*33C=) c.735+149C= (n.735+149C=) c.695C= (p.Ser232=) c.569C= (p.Ser190=) c.932C= (p.Ser311=) c.845C= (p.Ser282=) c.885+149C= (n.885+149C=) c.848C= (p.Ser283=) | |
| 6 | g.25812946G>T | CA3662602 | SLC17A1 | c.782C>A (p.Ser261Ter) c.*33C>A (n.*33C>A) c.735+149C>A (n.735+149C>A) c.695C>A (p.Ser232Ter) c.569C>A (p.Ser190Ter) c.932C>A (p.Ser311Ter) c.845C>A (p.Ser282Ter) c.885+149C>A (n.885+149C>A) c.848C>A (p.Ser283Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.25812947A= | CA1616765640 | SLC17A1 | c.781T= (p.Ser261=) c.*32T= (n.*32T=) c.735+148T= (n.735+148T=) c.694T= (p.Ser232=) c.568T= (p.Ser190=) c.931T= (p.Ser311=) c.844T= (p.Ser282=) c.885+148T= (n.885+148T=) c.847T= (p.Ser283=) | |
| 6 | g.25812947A>C | CA363158129 | SLC17A1 | c.781T>G (p.Ser261Ala) c.*32T>G (n.*32T>G) c.735+148T>G (n.735+148T>G) c.694T>G (p.Ser232Ala) c.568T>G (p.Ser190Ala) c.931T>G (p.Ser311Ala) c.844T>G (p.Ser282Ala) c.885+148T>G (n.885+148T>G) c.847T>G (p.Ser283Ala) | |
| 6 | g.25812947A>G | CA363158132 | SLC17A1 | c.781T>C (p.Ser261Pro) c.*32T>C (n.*32T>C) c.735+148T>C (n.735+148T>C) c.694T>C (p.Ser232Pro) c.568T>C (p.Ser190Pro) c.931T>C (p.Ser311Pro) c.844T>C (p.Ser282Pro) c.885+148T>C (n.885+148T>C) c.847T>C (p.Ser283Pro) | |
| 6 | g.25812947A>T | CA3662603 | SLC17A1 | c.781T>A (p.Ser261Thr) c.*32T>A (n.*32T>A) c.735+148T>A (n.735+148T>A) c.694T>A (p.Ser232Thr) c.568T>A (p.Ser190Thr) c.931T>A (p.Ser311Thr) c.844T>A (p.Ser282Thr) c.885+148T>A (n.885+148T>A) c.847T>A (p.Ser283Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.25812948C>A | CA363158133 | SLC17A1 | c.780G>T (p.Lys260Asn) c.*31G>T (n.*31G>T) c.735+147G>T (n.735+147G>T) c.693G>T (p.Lys231Asn) c.567G>T (p.Lys189Asn) c.930G>T (p.Lys310Asn) c.843G>T (p.Lys281Asn) c.885+147G>T (n.885+147G>T) c.846G>T (p.Lys282Asn) | gnomAD v4 |
| 6 | g.25812948C>G | CA363158135 | SLC17A1 | c.780G>C (p.Lys260Asn) c.*31G>C (n.*31G>C) c.735+147G>C (n.735+147G>C) c.693G>C (p.Lys231Asn) c.567G>C (p.Lys189Asn) c.930G>C (p.Lys310Asn) c.843G>C (p.Lys281Asn) c.885+147G>C (n.885+147G>C) c.846G>C (p.Lys282Asn) | dbSNP gnomAD v4 |
| 6 | g.25812948C>T | CA448980383 | SLC17A1 | c.780G>A (p.Lys260=) c.*31G>A (n.*31G>A) c.735+147G>A (n.735+147G>A) c.693G>A (p.Lys231=) c.567G>A (p.Lys189=) c.930G>A (p.Lys310=) c.843G>A (p.Lys281=) c.885+147G>A (n.885+147G>A) c.846G>A (p.Lys282=) | |
| 6 | g.25812949T>A | CA363158137 | SLC17A1 | c.779A>T (p.Lys260Met) c.*30A>T (n.*30A>T) c.735+146A>T (n.735+146A>T) c.692A>T (p.Lys231Met) c.566A>T (p.Lys189Met) c.929A>T (p.Lys310Met) c.842A>T (p.Lys281Met) c.885+146A>T (n.885+146A>T) c.845A>T (p.Lys282Met) | |
| 6 | g.25812949T>C | CA363158138 | SLC17A1 | c.779A>G (p.Lys260Arg) c.*30A>G (n.*30A>G) c.735+146A>G (n.735+146A>G) c.692A>G (p.Lys231Arg) c.566A>G (p.Lys189Arg) c.929A>G (p.Lys310Arg) c.842A>G (p.Lys281Arg) c.885+146A>G (n.885+146A>G) c.845A>G (p.Lys282Arg) | |
| 6 | g.25812949T>G | CA363158139 | SLC17A1 | c.779A>C (p.Lys260Thr) c.*30A>C (n.*30A>C) c.735+146A>C (n.735+146A>C) c.692A>C (p.Lys231Thr) c.566A>C (p.Lys189Thr) c.929A>C (p.Lys310Thr) c.842A>C (p.Lys281Thr) c.885+146A>C (n.885+146A>C) c.845A>C (p.Lys282Thr) | |
| 6 | g.25812950T>A | CA363158140 | SLC17A1 | c.778A>T (p.Lys260Ter) c.*29A>T (n.*29A>T) c.735+145A>T (n.735+145A>T) c.691A>T (p.Lys231Ter) c.565A>T (p.Lys189Ter) c.928A>T (p.Lys310Ter) c.841A>T (p.Lys281Ter) c.885+145A>T (n.885+145A>T) c.844A>T (p.Lys282Ter) | |
| 6 | g.25812950T>C | CA363158141 | SLC17A1 | c.778A>G (p.Lys260Glu) c.*29A>G (n.*29A>G) c.735+145A>G (n.735+145A>G) c.691A>G (p.Lys231Glu) c.565A>G (p.Lys189Glu) c.928A>G (p.Lys310Glu) c.841A>G (p.Lys281Glu) c.885+145A>G (n.885+145A>G) c.844A>G (p.Lys282Glu) | |
| 6 | g.25812950T>G | CA363158143 | SLC17A1 | c.778A>C (p.Lys260Gln) c.*29A>C (n.*29A>C) c.735+145A>C (n.735+145A>C) c.691A>C (p.Lys231Gln) c.565A>C (p.Lys189Gln) c.928A>C (p.Lys310Gln) c.841A>C (p.Lys281Gln) c.885+145A>C (n.885+145A>C) c.844A>C (p.Lys282Gln) | |
| 6 | g.25812950_25812951delinsTA | CA1616765641 | SLC17A1 | c.777_778delinsTA (p.Leu259=) c.*28_*29delinsTA (n.*28_*29delinsTA) c.735+144_735+145delinsTA (n.735+144_735+145delinsTA) c.690_691delinsTA (p.Leu230=) c.564_565delinsTA (p.Leu188=) c.927_928delinsTA (p.Leu309=) c.840_841delinsTA (p.Leu280=) c.885+144_885+145delinsTA (n.885+144_885+145delinsTA) c.843_844delinsTA (p.Leu281=) | |
| 6 | g.25812951A>C | CA448980385 | SLC17A1 | c.777T>G (p.Leu259=) c.*28T>G (n.*28T>G) c.735+144T>G (n.735+144T>G) c.690T>G (p.Leu230=) c.564T>G (p.Leu188=) c.927T>G (p.Leu309=) c.840T>G (p.Leu280=) c.885+144T>G (n.885+144T>G) c.843T>G (p.Leu281=) | COSMIC |
| 6 | g.25812951A>G | CA448980386 | SLC17A1 | c.777T>C (p.Leu259=) c.*28T>C (n.*28T>C) c.735+144T>C (n.735+144T>C) c.690T>C (p.Leu230=) c.564T>C (p.Leu188=) c.927T>C (p.Leu309=) c.840T>C (p.Leu280=) c.885+144T>C (n.885+144T>C) c.843T>C (p.Leu281=) | |
| 6 | g.25812951A>T | CA448980387 | SLC17A1 | c.777T>A (p.Leu259=) c.*28T>A (n.*28T>A) c.735+144T>A (n.735+144T>A) c.690T>A (p.Leu230=) c.564T>A (p.Leu188=) c.927T>A (p.Leu309=) c.840T>A (p.Leu280=) c.885+144T>A (n.885+144T>A) c.843T>A (p.Leu281=) | |
| 6 | g.25812952del | CA823427255 | SLC17A1 | c.777del (p.Lys260SerfsTer22) c.*28del (n.*28del) c.735+144del (n.735+144del) c.690del (p.Lys231SerfsTer22) c.564del (p.Lys189SerfsTer22) c.927del (p.Lys310SerfsTer22) c.840del (p.Lys281SerfsTer22) c.885+144del (n.885+144del) c.843del (p.Lys282SerfsTer22) | dbSNP |
| 6 | g.25812952A= | CA1616765642 | SLC17A1 | c.776T= (p.Leu259=) c.*27T= (n.*27T=) c.735+143T= (n.735+143T=) c.689T= (p.Leu230=) c.563T= (p.Leu188=) c.926T= (p.Leu309=) c.839T= (p.Leu280=) c.885+143T= (n.885+143T=) c.842T= (p.Leu281=) | |
| 6 | g.25812952A>C | CA363158145 | SLC17A1 | c.776T>G (p.Leu259Arg) c.*27T>G (n.*27T>G) c.735+143T>G (n.735+143T>G) c.689T>G (p.Leu230Arg) c.563T>G (p.Leu188Arg) c.926T>G (p.Leu309Arg) c.839T>G (p.Leu280Arg) c.885+143T>G (n.885+143T>G) c.842T>G (p.Leu281Arg) | gnomAD v4 |
| 6 | g.25812952A>G | CA3662604 | SLC17A1 | c.776T>C (p.Leu259Pro) c.*27T>C (n.*27T>C) c.735+143T>C (n.735+143T>C) c.689T>C (p.Leu230Pro) c.563T>C (p.Leu188Pro) c.926T>C (p.Leu309Pro) c.839T>C (p.Leu280Pro) c.885+143T>C (n.885+143T>C) c.842T>C (p.Leu281Pro) | dbSNP ExAC gnomAD v2 |
| 6 | g.25812952A>T | CA363158147 | SLC17A1 | c.776T>A (p.Leu259His) c.*27T>A (n.*27T>A) c.735+143T>A (n.735+143T>A) c.689T>A (p.Leu230His) c.563T>A (p.Leu188His) c.926T>A (p.Leu309His) c.839T>A (p.Leu280His) c.885+143T>A (n.885+143T>A) c.842T>A (p.Leu281His) | |
| 6 | g.25812953G>A | CA363158153 | SLC17A1 | c.775C>T (p.Leu259Phe) c.*26C>T (n.*26C>T) c.735+142C>T (n.735+142C>T) c.688C>T (p.Leu230Phe) c.562C>T (p.Leu188Phe) c.925C>T (p.Leu309Phe) c.838C>T (p.Leu280Phe) c.885+142C>T (n.885+142C>T) c.841C>T (p.Leu281Phe) | dbSNP gnomAD v4 COSMIC |
| 6 | g.25812953G>C | CA363158151 | SLC17A1 | c.775C>G (p.Leu259Val) c.*26C>G (n.*26C>G) c.735+142C>G (n.735+142C>G) c.688C>G (p.Leu230Val) c.562C>G (p.Leu188Val) c.925C>G (p.Leu309Val) c.838C>G (p.Leu280Val) c.885+142C>G (n.885+142C>G) c.841C>G (p.Leu281Val) | |
| 6 | g.25812953G= | CA1616765643 | SLC17A1 | c.775C= (p.Leu259=) c.*26C= (n.*26C=) c.735+142C= (n.735+142C=) c.688C= (p.Leu230=) c.562C= (p.Leu188=) c.925C= (p.Leu309=) c.838C= (p.Leu280=) c.885+142C= (n.885+142C=) c.841C= (p.Leu281=) | |
| 6 | g.25812953G>T | CA363158150 | SLC17A1 | c.775C>A (p.Leu259Ile) c.*26C>A (n.*26C>A) c.735+142C>A (n.735+142C>A) c.688C>A (p.Leu230Ile) c.562C>A (p.Leu188Ile) c.925C>A (p.Leu309Ile) c.838C>A (p.Leu280Ile) c.885+142C>A (n.885+142C>A) c.841C>A (p.Leu281Ile) | |
| 6 | g.25812954T>A | CA448980388 | SLC17A1 | c.774A>T (p.Ile258=) c.*25A>T (n.*25A>T) c.735+141A>T (n.735+141A>T) c.687A>T (p.Ile229=) c.561A>T (p.Ile187=) c.924A>T (p.Ile308=) c.837A>T (p.Ile279=) c.885+141A>T (n.885+141A>T) c.840A>T (p.Ile280=) | |
| 6 | g.25812954T>C | CA363158154 | SLC17A1 | c.774A>G (p.Ile258Met) c.*25A>G (n.*25A>G) c.735+141A>G (n.735+141A>G) c.687A>G (p.Ile229Met) c.561A>G (p.Ile187Met) c.924A>G (p.Ile308Met) c.837A>G (p.Ile279Met) c.885+141A>G (n.885+141A>G) c.840A>G (p.Ile280Met) | dbSNP |
| 6 | g.25812954T>G | CA448980389 | SLC17A1 | c.774A>C (p.Ile258=) c.*25A>C (n.*25A>C) c.735+141A>C (n.735+141A>C) c.687A>C (p.Ile229=) c.561A>C (p.Ile187=) c.924A>C (p.Ile308=) c.837A>C (p.Ile279=) c.885+141A>C (n.885+141A>C) c.840A>C (p.Ile280=) | |
| 6 | g.25812955A>C | CA363158157 | SLC17A1 | c.773T>G (p.Ile258Arg) c.*24T>G (n.*24T>G) c.735+140T>G (n.735+140T>G) c.686T>G (p.Ile229Arg) c.560T>G (p.Ile187Arg) c.923T>G (p.Ile308Arg) c.836T>G (p.Ile279Arg) c.885+140T>G (n.885+140T>G) c.839T>G (p.Ile280Arg) | |
| 6 | g.25812955A>G | CA363158160 | SLC17A1 | c.773T>C (p.Ile258Thr) c.*24T>C (n.*24T>C) c.735+140T>C (n.735+140T>C) c.686T>C (p.Ile229Thr) c.560T>C (p.Ile187Thr) c.923T>C (p.Ile308Thr) c.836T>C (p.Ile279Thr) c.885+140T>C (n.885+140T>C) c.839T>C (p.Ile280Thr) | |
| 6 | g.25812955A>T | CA363158161 | SLC17A1 | c.773T>A (p.Ile258Lys) c.*24T>A (n.*24T>A) c.735+140T>A (n.735+140T>A) c.686T>A (p.Ile229Lys) c.560T>A (p.Ile187Lys) c.923T>A (p.Ile308Lys) c.836T>A (p.Ile279Lys) c.885+140T>A (n.885+140T>A) c.839T>A (p.Ile280Lys) | |
| 6 | g.25812956T>A | CA363158164 | SLC17A1 | c.772A>T (p.Ile258Leu) c.*23A>T (n.*23A>T) c.735+139A>T (n.735+139A>T) c.685A>T (p.Ile229Leu) c.559A>T (p.Ile187Leu) c.922A>T (p.Ile308Leu) c.835A>T (p.Ile279Leu) c.885+139A>T (n.885+139A>T) c.838A>T (p.Ile280Leu) | |
| 6 | g.25812956T>C | CA363158166 | SLC17A1 | c.772A>G (p.Ile258Val) c.*23A>G (n.*23A>G) c.735+139A>G (n.735+139A>G) c.685A>G (p.Ile229Val) c.559A>G (p.Ile187Val) c.922A>G (p.Ile308Val) c.835A>G (p.Ile279Val) c.885+139A>G (n.885+139A>G) c.838A>G (p.Ile280Val) | |
| 6 | g.25812956T>G | CA363158167 | SLC17A1 | c.772A>C (p.Ile258Leu) c.*23A>C (n.*23A>C) c.735+139A>C (n.735+139A>C) c.685A>C (p.Ile229Leu) c.559A>C (p.Ile187Leu) c.922A>C (p.Ile308Leu) c.835A>C (p.Ile279Leu) c.885+139A>C (n.885+139A>C) c.838A>C (p.Ile280Leu) | |
| 6 | g.25812957A>C | CA448980394 | SLC17A1 | c.771T>G (p.Ala257=) c.*22T>G (n.*22T>G) c.735+138T>G (n.735+138T>G) c.684T>G (p.Ala228=) c.558T>G (p.Ala186=) c.921T>G (p.Ala307=) c.834T>G (p.Ala278=) c.885+138T>G (n.885+138T>G) c.837T>G (p.Ala279=) | |
| 6 | g.25812957A>G | CA448980395 | SLC17A1 | c.771T>C (p.Ala257=) c.*22T>C (n.*22T>C) c.735+138T>C (n.735+138T>C) c.684T>C (p.Ala228=) c.558T>C (p.Ala186=) c.921T>C (p.Ala307=) c.834T>C (p.Ala278=) c.885+138T>C (n.885+138T>C) c.837T>C (p.Ala279=) | |
| 6 | g.25812957A>T | CA448980396 | SLC17A1 | c.771T>A (p.Ala257=) c.*22T>A (n.*22T>A) c.735+138T>A (n.735+138T>A) c.684T>A (p.Ala228=) c.558T>A (p.Ala186=) c.921T>A (p.Ala307=) c.834T>A (p.Ala278=) c.885+138T>A (n.885+138T>A) c.837T>A (p.Ala279=) | |
| 6 | g.25812958G>A | CA363158169 | SLC17A1 | c.770C>T (p.Ala257Val) c.*21C>T (n.*21C>T) c.735+137C>T (n.735+137C>T) c.683C>T (p.Ala228Val) c.557C>T (p.Ala186Val) c.920C>T (p.Ala307Val) c.833C>T (p.Ala278Val) c.885+137C>T (n.885+137C>T) c.836C>T (p.Ala279Val) | |
| 6 | g.25812958G>C | CA363158171 | SLC17A1 | c.770C>G (p.Ala257Gly) c.*21C>G (n.*21C>G) c.735+137C>G (n.735+137C>G) c.683C>G (p.Ala228Gly) c.557C>G (p.Ala186Gly) c.920C>G (p.Ala307Gly) c.833C>G (p.Ala278Gly) c.885+137C>G (n.885+137C>G) c.836C>G (p.Ala279Gly) | |
| 6 | g.25812958G>T | CA363158173 | SLC17A1 | c.770C>A (p.Ala257Asp) c.*21C>A (n.*21C>A) c.735+137C>A (n.735+137C>A) c.683C>A (p.Ala228Asp) c.557C>A (p.Ala186Asp) c.920C>A (p.Ala307Asp) c.833C>A (p.Ala278Asp) c.885+137C>A (n.885+137C>A) c.836C>A (p.Ala279Asp) | |
| 6 | g.25812959C>A | CA363158174 | SLC17A1 | c.769G>T (p.Ala257Ser) c.*20G>T (n.*20G>T) c.735+136G>T (n.735+136G>T) c.682G>T (p.Ala228Ser) c.556G>T (p.Ala186Ser) c.919G>T (p.Ala307Ser) c.832G>T (p.Ala278Ser) c.885+136G>T (n.885+136G>T) c.835G>T (p.Ala279Ser) | |
| 6 | g.25812959C>G | CA363158176 | SLC17A1 | c.769G>C (p.Ala257Pro) c.*20G>C (n.*20G>C) c.735+136G>C (n.735+136G>C) c.682G>C (p.Ala228Pro) c.556G>C (p.Ala186Pro) c.919G>C (p.Ala307Pro) c.832G>C (p.Ala278Pro) c.885+136G>C (n.885+136G>C) c.835G>C (p.Ala279Pro) | |
| 6 | g.25812959C>T | CA363158177 | SLC17A1 | c.769G>A (p.Ala257Thr) c.*20G>A (n.*20G>A) c.735+136G>A (n.735+136G>A) c.682G>A (p.Ala228Thr) c.556G>A (p.Ala186Thr) c.919G>A (p.Ala307Thr) c.832G>A (p.Ala278Thr) c.885+136G>A (n.885+136G>A) c.835G>A (p.Ala279Thr) | |
| 6 | g.25812960C>A | CA363158178 | SLC17A1 | c.768G>T (p.Lys256Asn) c.*19G>T (n.*19G>T) c.735+135G>T (n.735+135G>T) c.681G>T (p.Lys227Asn) c.555G>T (p.Lys185Asn) c.918G>T (p.Lys306Asn) c.831G>T (p.Lys277Asn) c.885+135G>T (n.885+135G>T) c.834G>T (p.Lys278Asn) | |
| 6 | g.25812960C>G | CA363158180 | SLC17A1 | c.768G>C (p.Lys256Asn) c.*19G>C (n.*19G>C) c.735+135G>C (n.735+135G>C) c.681G>C (p.Lys227Asn) c.555G>C (p.Lys185Asn) c.918G>C (p.Lys306Asn) c.831G>C (p.Lys277Asn) c.885+135G>C (n.885+135G>C) c.834G>C (p.Lys278Asn) | |
| 6 | g.25812960C>T | CA448980397 | SLC17A1 | c.768G>A (p.Lys256=) c.*19G>A (n.*19G>A) c.735+135G>A (n.735+135G>A) c.681G>A (p.Lys227=) c.555G>A (p.Lys185=) c.918G>A (p.Lys306=) c.831G>A (p.Lys277=) c.885+135G>A (n.885+135G>A) c.834G>A (p.Lys278=) | |
| 6 | g.25812961T>A | CA363158181 | SLC17A1 | c.767A>T (p.Lys256Met) c.*18A>T (n.*18A>T) c.735+134A>T (n.735+134A>T) c.680A>T (p.Lys227Met) c.554A>T (p.Lys185Met) c.917A>T (p.Lys306Met) c.830A>T (p.Lys277Met) c.885+134A>T (n.885+134A>T) c.833A>T (p.Lys278Met) | |
| 6 | g.25812961T>C | CA363158183 | SLC17A1 | c.767A>G (p.Lys256Arg) c.*18A>G (n.*18A>G) c.735+134A>G (n.735+134A>G) c.680A>G (p.Lys227Arg) c.554A>G (p.Lys185Arg) c.917A>G (p.Lys306Arg) c.830A>G (p.Lys277Arg) c.885+134A>G (n.885+134A>G) c.833A>G (p.Lys278Arg) | gnomAD v4 |
| 6 | g.25812961T>G | CA363158185 | SLC17A1 | c.767A>C (p.Lys256Thr) c.*18A>C (n.*18A>C) c.735+134A>C (n.735+134A>C) c.680A>C (p.Lys227Thr) c.554A>C (p.Lys185Thr) c.917A>C (p.Lys306Thr) c.830A>C (p.Lys277Thr) c.885+134A>C (n.885+134A>C) c.833A>C (p.Lys278Thr) | |
| 6 | g.25812962T>A | CA363158186 | SLC17A1 | c.766A>T (p.Lys256Ter) c.*17A>T (n.*17A>T) c.735+133A>T (n.735+133A>T) c.679A>T (p.Lys227Ter) c.553A>T (p.Lys185Ter) c.916A>T (p.Lys306Ter) c.829A>T (p.Lys277Ter) c.885+133A>T (n.885+133A>T) c.832A>T (p.Lys278Ter) | |
| 6 | g.25812962T>C | CA363158188 | SLC17A1 | c.766A>G (p.Lys256Glu) c.*17A>G (n.*17A>G) c.735+133A>G (n.735+133A>G) c.679A>G (p.Lys227Glu) c.553A>G (p.Lys185Glu) c.916A>G (p.Lys306Glu) c.829A>G (p.Lys277Glu) c.885+133A>G (n.885+133A>G) c.832A>G (p.Lys278Glu) | dbSNP |
| 6 | g.25812962T>G | CA363158190 | SLC17A1 | c.766A>C (p.Lys256Gln) c.*17A>C (n.*17A>C) c.735+133A>C (n.735+133A>C) c.679A>C (p.Lys227Gln) c.553A>C (p.Lys185Gln) c.916A>C (p.Lys306Gln) c.829A>C (p.Lys277Gln) c.885+133A>C (n.885+133A>C) c.832A>C (p.Lys278Gln) | |
| 6 | g.25812962T= | CA1616765644 | SLC17A1 | c.766A= (p.Lys256=) c.*17A= (n.*17A=) c.735+133A= (n.735+133A=) c.679A= (p.Lys227=) c.553A= (p.Lys185=) c.916A= (p.Lys306=) c.829A= (p.Lys277=) c.885+133A= (n.885+133A=) c.832A= (p.Lys278=) | |
| 6 | g.25812963G>A | CA448980402 | SLC17A1 | c.765C>T (p.Ile255=) c.*16C>T (n.*16C>T) c.735+132C>T (n.735+132C>T) c.678C>T (p.Ile226=) c.552C>T (p.Ile184=) c.915C>T (p.Ile305=) c.828C>T (p.Ile276=) c.885+132C>T (n.885+132C>T) c.831C>T (p.Ile277=) | |
| 6 | g.25812963G>C | CA363158191 | SLC17A1 | c.765C>G (p.Ile255Met) c.*16C>G (n.*16C>G) c.735+132C>G (n.735+132C>G) c.678C>G (p.Ile226Met) c.552C>G (p.Ile184Met) c.915C>G (p.Ile305Met) c.828C>G (p.Ile276Met) c.885+132C>G (n.885+132C>G) c.831C>G (p.Ile277Met) | |
| 6 | g.25812963G>T | CA448980401 | SLC17A1 | c.765C>A (p.Ile255=) c.*16C>A (n.*16C>A) c.735+132C>A (n.735+132C>A) c.678C>A (p.Ile226=) c.552C>A (p.Ile184=) c.915C>A (p.Ile305=) c.828C>A (p.Ile276=) c.885+132C>A (n.885+132C>A) c.831C>A (p.Ile277=) | gnomAD v4 |
| 6 | g.25812964A= | CA1616765645 | SLC17A1 | c.764T= (p.Ile255=) c.*15T= (n.*15T=) c.735+131T= (n.735+131T=) c.677T= (p.Ile226=) c.551T= (p.Ile184=) c.914T= (p.Ile305=) c.827T= (p.Ile276=) c.885+131T= (n.885+131T=) c.830T= (p.Ile277=) | |
| 6 | g.25812964A>C | CA363158192 | SLC17A1 | c.764T>G (p.Ile255Ser) c.*15T>G (n.*15T>G) c.735+131T>G (n.735+131T>G) c.677T>G (p.Ile226Ser) c.551T>G (p.Ile184Ser) c.914T>G (p.Ile305Ser) c.827T>G (p.Ile276Ser) c.885+131T>G (n.885+131T>G) c.830T>G (p.Ile277Ser) | |
| 6 | g.25812964A>G | CA3662605 | SLC17A1 | c.764T>C (p.Ile255Thr) c.*15T>C (n.*15T>C) c.735+131T>C (n.735+131T>C) c.677T>C (p.Ile226Thr) c.551T>C (p.Ile184Thr) c.914T>C (p.Ile305Thr) c.827T>C (p.Ile276Thr) c.885+131T>C (n.885+131T>C) c.830T>C (p.Ile277Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.25812964A>T | CA363158194 | SLC17A1 | c.764T>A (p.Ile255Asn) c.*15T>A (n.*15T>A) c.735+131T>A (n.735+131T>A) c.677T>A (p.Ile226Asn) c.551T>A (p.Ile184Asn) c.914T>A (p.Ile305Asn) c.827T>A (p.Ile276Asn) c.885+131T>A (n.885+131T>A) c.830T>A (p.Ile277Asn) | gnomAD v4 |
| 6 | g.25812965T>A | CA363158196 | SLC17A1 | c.763A>T (p.Ile255Phe) c.*14A>T (n.*14A>T) c.735+130A>T (n.735+130A>T) c.676A>T (p.Ile226Phe) c.550A>T (p.Ile184Phe) c.913A>T (p.Ile305Phe) c.826A>T (p.Ile276Phe) c.885+130A>T (n.885+130A>T) c.829A>T (p.Ile277Phe) | |
| 6 | g.25812965T>C | CA3662606 | SLC17A1 | c.763A>G (p.Ile255Val) c.*14A>G (n.*14A>G) c.735+130A>G (n.735+130A>G) c.676A>G (p.Ile226Val) c.550A>G (p.Ile184Val) c.913A>G (p.Ile305Val) c.826A>G (p.Ile276Val) c.885+130A>G (n.885+130A>G) c.829A>G (p.Ile277Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.25812965T>G | CA363158198 | SLC17A1 | c.763A>C (p.Ile255Leu) c.*14A>C (n.*14A>C) c.735+130A>C (n.735+130A>C) c.676A>C (p.Ile226Leu) c.550A>C (p.Ile184Leu) c.913A>C (p.Ile305Leu) c.826A>C (p.Ile276Leu) c.885+130A>C (n.885+130A>C) c.829A>C (p.Ile277Leu) | |
| 6 | g.25812965T= | CA1616765646 | SLC17A1 | c.763A= (p.Ile255=) c.*14A= (n.*14A=) c.735+130A= (n.735+130A=) c.676A= (p.Ile226=) c.550A= (p.Ile184=) c.913A= (p.Ile305=) c.826A= (p.Ile276=) c.885+130A= (n.885+130A=) c.829A= (p.Ile277=) | |
| 6 | g.25812966A>C | CA448980404 | SLC17A1 | c.762T>G (p.Pro254=) c.*13T>G (n.*13T>G) c.735+129T>G (n.735+129T>G) c.675T>G (p.Pro225=) c.549T>G (p.Pro183=) c.912T>G (p.Pro304=) c.825T>G (p.Pro275=) c.885+129T>G (n.885+129T>G) c.828T>G (p.Pro276=) | |
| 6 | g.25812966A>G | CA448980408 | SLC17A1 | c.762T>C (p.Pro254=) c.*13T>C (n.*13T>C) c.735+129T>C (n.735+129T>C) c.675T>C (p.Pro225=) c.549T>C (p.Pro183=) c.912T>C (p.Pro304=) c.825T>C (p.Pro275=) c.885+129T>C (n.885+129T>C) c.828T>C (p.Pro276=) | gnomAD v4 |
| 6 | g.25812966A>T | CA448980406 | SLC17A1 | c.762T>A (p.Pro254=) c.*13T>A (n.*13T>A) c.735+129T>A (n.735+129T>A) c.675T>A (p.Pro225=) c.549T>A (p.Pro183=) c.912T>A (p.Pro304=) c.825T>A (p.Pro275=) c.885+129T>A (n.885+129T>A) c.828T>A (p.Pro276=) | |
| 6 | g.25812967G>A | CA363158203 | SLC17A1 | c.761C>T (p.Pro254Leu) c.*12C>T (n.*12C>T) c.735+128C>T (n.735+128C>T) c.674C>T (p.Pro225Leu) c.548C>T (p.Pro183Leu) c.911C>T (p.Pro304Leu) c.824C>T (p.Pro275Leu) c.885+128C>T (n.885+128C>T) c.827C>T (p.Pro276Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.25812967G>C | CA363158199 | SLC17A1 | c.761C>G (p.Pro254Arg) c.*12C>G (n.*12C>G) c.735+128C>G (n.735+128C>G) c.674C>G (p.Pro225Arg) c.548C>G (p.Pro183Arg) c.911C>G (p.Pro304Arg) c.824C>G (p.Pro275Arg) c.885+128C>G (n.885+128C>G) c.827C>G (p.Pro276Arg) | |
| 6 | g.25812967G= | CA1616765647 | SLC17A1 | c.761C= (p.Pro254=) c.*12C= (n.*12C=) c.735+128C= (n.735+128C=) c.674C= (p.Pro225=) c.548C= (p.Pro183=) c.911C= (p.Pro304=) c.824C= (p.Pro275=) c.885+128C= (n.885+128C=) c.827C= (p.Pro276=) | |
| 6 | g.25812967G>T | CA363158201 | SLC17A1 | c.761C>A (p.Pro254His) c.*12C>A (n.*12C>A) c.735+128C>A (n.735+128C>A) c.674C>A (p.Pro225His) c.548C>A (p.Pro183His) c.911C>A (p.Pro304His) c.824C>A (p.Pro275His) c.885+128C>A (n.885+128C>A) c.827C>A (p.Pro276His) | COSMIC |
| 6 | g.25812968G>A | CA363158204 | SLC17A1 | c.760C>T (p.Pro254Ser) c.*11C>T (n.*11C>T) c.735+127C>T (n.735+127C>T) c.673C>T (p.Pro225Ser) c.547C>T (p.Pro183Ser) c.910C>T (p.Pro304Ser) c.823C>T (p.Pro275Ser) c.885+127C>T (n.885+127C>T) c.826C>T (p.Pro276Ser) | |
| 6 | g.25812968G>C | CA363158206 | SLC17A1 | c.760C>G (p.Pro254Ala) c.*11C>G (n.*11C>G) c.735+127C>G (n.735+127C>G) c.673C>G (p.Pro225Ala) c.547C>G (p.Pro183Ala) c.910C>G (p.Pro304Ala) c.823C>G (p.Pro275Ala) c.885+127C>G (n.885+127C>G) c.826C>G (p.Pro276Ala) | dbSNP |
| 6 | g.25812968G= | CA1616765648 | SLC17A1 | c.760C= (p.Pro254=) c.*11C= (n.*11C=) c.735+127C= (n.735+127C=) c.673C= (p.Pro225=) c.547C= (p.Pro183=) c.910C= (p.Pro304=) c.823C= (p.Pro275=) c.885+127C= (n.885+127C=) c.826C= (p.Pro276=) | |
| 6 | g.25812968G>T | CA363158207 | SLC17A1 | c.760C>A (p.Pro254Thr) c.*11C>A (n.*11C>A) c.735+127C>A (n.735+127C>A) c.673C>A (p.Pro225Thr) c.547C>A (p.Pro183Thr) c.910C>A (p.Pro304Thr) c.823C>A (p.Pro275Thr) c.885+127C>A (n.885+127C>A) c.826C>A (p.Pro276Thr) | COSMIC |
| 6 | g.25812969C>A | CA448980409 | SLC17A1 | c.759G>T (p.Leu253=) c.*10G>T (n.*10G>T) c.735+126G>T (n.735+126G>T) c.672G>T (p.Leu224=) c.546G>T (p.Leu182=) c.909G>T (p.Leu303=) c.822G>T (p.Leu274=) c.885+126G>T (n.885+126G>T) c.825G>T (p.Leu275=) | |
| 6 | g.25812969C>G | CA448980411 | SLC17A1 | c.759G>C (p.Leu253=) c.*10G>C (n.*10G>C) c.735+126G>C (n.735+126G>C) c.672G>C (p.Leu224=) c.546G>C (p.Leu182=) c.909G>C (p.Leu303=) c.822G>C (p.Leu274=) c.885+126G>C (n.885+126G>C) c.825G>C (p.Leu275=) | gnomAD v4 |
| 6 | g.25812969C>T | CA448980412 | SLC17A1 | c.759G>A (p.Leu253=) c.*10G>A (n.*10G>A) c.735+126G>A (n.735+126G>A) c.672G>A (p.Leu224=) c.546G>A (p.Leu182=) c.909G>A (p.Leu303=) c.822G>A (p.Leu274=) c.885+126G>A (n.885+126G>A) c.825G>A (p.Leu275=) | |
| 6 | g.25812970A>C | CA363158209 | SLC17A1 | c.758T>G (p.Leu253Arg) c.*9T>G (n.*9T>G) c.735+125T>G (n.735+125T>G) c.671T>G (p.Leu224Arg) c.545T>G (p.Leu182Arg) c.908T>G (p.Leu303Arg) c.821T>G (p.Leu274Arg) c.885+125T>G (n.885+125T>G) c.824T>G (p.Leu275Arg) | |
| 6 | g.25812970A>G | CA363158211 | SLC17A1 | c.758T>C (p.Leu253Pro) c.*9T>C (n.*9T>C) c.735+125T>C (n.735+125T>C) c.671T>C (p.Leu224Pro) c.545T>C (p.Leu182Pro) c.908T>C (p.Leu303Pro) c.821T>C (p.Leu274Pro) c.885+125T>C (n.885+125T>C) c.824T>C (p.Leu275Pro) | |
| 6 | g.25812970A>T | CA363158213 | SLC17A1 | c.758T>A (p.Leu253Gln) c.*9T>A (n.*9T>A) c.735+125T>A (n.735+125T>A) c.671T>A (p.Leu224Gln) c.545T>A (p.Leu182Gln) c.908T>A (p.Leu303Gln) c.821T>A (p.Leu274Gln) c.885+125T>A (n.885+125T>A) c.824T>A (p.Leu275Gln) | |
| 6 | g.25812971_25812974dup | CA2677592043 | SLC17A1 | c.755_758dup (p.Pro254SerfsTer8) c.*6_*9dup (n.*6_*9dup) c.735+122_735+125dup (n.735+122_735+125dup) c.668_671dup (p.Pro225SerfsTer8) c.542_545dup (p.Pro183SerfsTer8) c.905_908dup (p.Pro304SerfsTer8) c.818_821dup (p.Pro275SerfsTer8) c.885+122_885+125dup (n.885+122_885+125dup) c.821_824dup (p.Pro276SerfsTer8) | gnomAD v4 |
| 6 | g.25812973_25812974del | CA2677592044 | SLC17A1 | c.757_758del (p.Leu253AlafsTer7) c.*8_*9del (n.*8_*9del) c.735+124_735+125del (n.735+124_735+125del) c.670_671del (p.Leu224AlafsTer7) c.544_545del (p.Leu182AlafsTer7) c.907_908del (p.Leu303AlafsTer7) c.820_821del (p.Leu274AlafsTer7) c.885+124_885+125del (n.885+124_885+125del) c.823_824del (p.Leu275AlafsTer7) | gnomAD v4 |
| 6 | g.25812971G>A | CA448980413 | SLC17A1 | c.757C>T (p.Leu253=) c.*8C>T (n.*8C>T) c.735+124C>T (n.735+124C>T) c.670C>T (p.Leu224=) c.544C>T (p.Leu182=) c.907C>T (p.Leu303=) c.820C>T (p.Leu274=) c.885+124C>T (n.885+124C>T) c.823C>T (p.Leu275=) | |
| 6 | g.25812971G>C | CA363158214 | SLC17A1 | c.757C>G (p.Leu253Val) c.*8C>G (n.*8C>G) c.735+124C>G (n.735+124C>G) c.670C>G (p.Leu224Val) c.544C>G (p.Leu182Val) c.907C>G (p.Leu303Val) c.820C>G (p.Leu274Val) c.885+124C>G (n.885+124C>G) c.823C>G (p.Leu275Val) | dbSNP |
| 6 | g.25812971G= | CA1616765649 | SLC17A1 | c.757C= (p.Leu253=) c.*8C= (n.*8C=) c.735+124C= (n.735+124C=) c.670C= (p.Leu224=) c.544C= (p.Leu182=) c.907C= (p.Leu303=) c.820C= (p.Leu274=) c.885+124C= (n.885+124C=) c.823C= (p.Leu275=) | |
| 6 | g.25812971G>T | CA363158215 | SLC17A1 | c.757C>A (p.Leu253Met) c.*8C>A (n.*8C>A) c.735+124C>A (n.735+124C>A) c.670C>A (p.Leu224Met) c.544C>A (p.Leu182Met) c.907C>A (p.Leu303Met) c.820C>A (p.Leu274Met) c.885+124C>A (n.885+124C>A) c.823C>A (p.Leu275Met) | dbSNP |
| 6 | g.25812972A= | CA1616765650 | SLC17A1 | c.756T= (p.Ser252=) c.*7T= (n.*7T=) c.735+123T= (n.735+123T=) c.669T= (p.Ser223=) c.543T= (p.Ser181=) c.906T= (p.Ser302=) c.819T= (p.Ser273=) c.885+123T= (n.885+123T=) c.822T= (p.Ser274=) | |
| 6 | g.25812972A>C | CA448980415 | SLC17A1 | c.756T>G (p.Ser252=) c.*7T>G (n.*7T>G) c.735+123T>G (n.735+123T>G) c.669T>G (p.Ser223=) c.543T>G (p.Ser181=) c.906T>G (p.Ser302=) c.819T>G (p.Ser273=) c.885+123T>G (n.885+123T>G) c.822T>G (p.Ser274=) | dbSNP gnomAD v4 |
| 6 | g.25812972A>G | CA448980416 | SLC17A1 | c.756T>C (p.Ser252=) c.*7T>C (n.*7T>C) c.735+123T>C (n.735+123T>C) c.669T>C (p.Ser223=) c.543T>C (p.Ser181=) c.906T>C (p.Ser302=) c.819T>C (p.Ser273=) c.885+123T>C (n.885+123T>C) c.822T>C (p.Ser274=) | |
| 6 | g.25812972A>T | CA448980417 | SLC17A1 | c.756T>A (p.Ser252=) c.*7T>A (n.*7T>A) c.735+123T>A (n.735+123T>A) c.669T>A (p.Ser223=) c.543T>A (p.Ser181=) c.906T>A (p.Ser302=) c.819T>A (p.Ser273=) c.885+123T>A (n.885+123T>A) c.822T>A (p.Ser274=) | |
| 6 | g.25812973G>A | CA363158218 | SLC17A1 | c.755C>T (p.Ser252Phe) c.*6C>T (n.*6C>T) c.735+122C>T (n.735+122C>T) c.668C>T (p.Ser223Phe) c.542C>T (p.Ser181Phe) c.905C>T (p.Ser302Phe) c.818C>T (p.Ser273Phe) c.885+122C>T (n.885+122C>T) c.821C>T (p.Ser274Phe) | |
| 6 | g.25812973G>C | CA363158219 | SLC17A1 | c.755C>G (p.Ser252Cys) c.*6C>G (n.*6C>G) c.735+122C>G (n.735+122C>G) c.668C>G (p.Ser223Cys) c.542C>G (p.Ser181Cys) c.905C>G (p.Ser302Cys) c.818C>G (p.Ser273Cys) c.885+122C>G (n.885+122C>G) c.821C>G (p.Ser274Cys) | |
| 6 | g.25812973G>T | CA363158221 | SLC17A1 | c.755C>A (p.Ser252Tyr) c.*6C>A (n.*6C>A) c.735+122C>A (n.735+122C>A) c.668C>A (p.Ser223Tyr) c.542C>A (p.Ser181Tyr) c.905C>A (p.Ser302Tyr) c.818C>A (p.Ser273Tyr) c.885+122C>A (n.885+122C>A) c.821C>A (p.Ser274Tyr) | |
| 6 | g.25812974A= | CA1616765651 | SLC17A1 | c.754T= (p.Ser252=) c.*5T= (n.*5T=) c.735+121T= (n.735+121T=) c.667T= (p.Ser223=) c.541T= (p.Ser181=) c.904T= (p.Ser302=) c.817T= (p.Ser273=) c.885+121T= (n.885+121T=) c.820T= (p.Ser274=) | |
| 6 | g.25812974A>C | CA363158223 | SLC17A1 | c.754T>G (p.Ser252Ala) c.*5T>G (n.*5T>G) c.735+121T>G (n.735+121T>G) c.667T>G (p.Ser223Ala) c.541T>G (p.Ser181Ala) c.904T>G (p.Ser302Ala) c.817T>G (p.Ser273Ala) c.885+121T>G (n.885+121T>G) c.820T>G (p.Ser274Ala) | |
| 6 | g.25812974A>G | CA363158227 | SLC17A1 | c.754T>C (p.Ser252Pro) c.*5T>C (n.*5T>C) c.735+121T>C (n.735+121T>C) c.667T>C (p.Ser223Pro) c.541T>C (p.Ser181Pro) c.904T>C (p.Ser302Pro) c.817T>C (p.Ser273Pro) c.885+121T>C (n.885+121T>C) c.820T>C (p.Ser274Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.25812974A>T | CA363158225 | SLC17A1 | c.754T>A (p.Ser252Thr) c.*5T>A (n.*5T>A) c.735+121T>A (n.735+121T>A) c.667T>A (p.Ser223Thr) c.541T>A (p.Ser181Thr) c.904T>A (p.Ser302Thr) c.817T>A (p.Ser273Thr) c.885+121T>A (n.885+121T>A) c.820T>A (p.Ser274Thr) | |
| 6 | g.25812975T>A | CA363158228 | SLC17A1 | c.753A>T (p.Gln251His) c.*4A>T (n.*4A>T) c.735+120A>T (n.735+120A>T) c.666A>T (p.Gln222His) c.540A>T (p.Gln180His) c.903A>T (p.Gln301His) c.816A>T (p.Gln272His) c.885+120A>T (n.885+120A>T) c.819A>T (p.Gln273His) | |
| 6 | g.25812975T>C | CA3662607 | SLC17A1 | c.753A>G (p.Gln251=) c.*4A>G (n.*4A>G) c.735+120A>G (n.735+120A>G) c.666A>G (p.Gln222=) c.540A>G (p.Gln180=) c.903A>G (p.Gln301=) c.816A>G (p.Gln272=) c.885+120A>G (n.885+120A>G) c.819A>G (p.Gln273=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.25812975T>G | CA363158229 | SLC17A1 | c.753A>C (p.Gln251His) c.*4A>C (n.*4A>C) c.735+120A>C (n.735+120A>C) c.666A>C (p.Gln222His) c.540A>C (p.Gln180His) c.903A>C (p.Gln301His) c.816A>C (p.Gln272His) c.885+120A>C (n.885+120A>C) c.819A>C (p.Gln273His) | |
| 6 | g.25812975T= | CA1616765652 | SLC17A1 | c.753A= (p.Gln251=) c.*4A= (n.*4A=) c.735+120A= (n.735+120A=) c.666A= (p.Gln222=) c.540A= (p.Gln180=) c.903A= (p.Gln301=) c.816A= (p.Gln272=) c.885+120A= (n.885+120A=) c.819A= (p.Gln273=) | |
| 6 | g.25812976dup | CA1087048894 | SLC17A1 | c.753dup (p.Ser252IlefsTer9) c.*4dup (n.*4dup) c.735+120dup (n.735+120dup) c.666dup (p.Ser223IlefsTer9) c.540dup (p.Ser181IlefsTer9) c.903dup (p.Ser302IlefsTer9) c.816dup (p.Ser273IlefsTer9) c.885+120dup (n.885+120dup) c.819dup (p.Ser274IlefsTer9) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.25812976T>A | CA363158231 | SLC17A1 | c.752A>T (p.Gln251Leu) c.*3A>T (n.*3A>T) c.735+119A>T (n.735+119A>T) c.665A>T (p.Gln222Leu) c.539A>T (p.Gln180Leu) c.902A>T (p.Gln301Leu) c.815A>T (p.Gln272Leu) c.885+119A>T (n.885+119A>T) c.818A>T (p.Gln273Leu) | |
| 6 | g.25812976T>C | CA363158234 | SLC17A1 | c.752A>G (p.Gln251Arg) c.*3A>G (n.*3A>G) c.735+119A>G (n.735+119A>G) c.665A>G (p.Gln222Arg) c.539A>G (p.Gln180Arg) c.902A>G (p.Gln301Arg) c.815A>G (p.Gln272Arg) c.885+119A>G (n.885+119A>G) c.818A>G (p.Gln273Arg) | gnomAD v4 |
| 6 | g.25812976T>G | CA363158232 | SLC17A1 | c.752A>C (p.Gln251Pro) c.*3A>C (n.*3A>C) c.735+119A>C (n.735+119A>C) c.665A>C (p.Gln222Pro) c.539A>C (p.Gln180Pro) c.902A>C (p.Gln301Pro) c.815A>C (p.Gln272Pro) c.885+119A>C (n.885+119A>C) c.818A>C (p.Gln273Pro) | |
| 6 | g.25812977G>A | CA363158235 | SLC17A1 | c.751C>T (p.Gln251Ter) c.*2C>T (n.*2C>T) c.735+118C>T (n.735+118C>T) c.664C>T (p.Gln222Ter) c.538C>T (p.Gln180Ter) c.901C>T (p.Gln301Ter) c.814C>T (p.Gln272Ter) c.885+118C>T (n.885+118C>T) c.817C>T (p.Gln273Ter) | |
| 6 | g.25812977G>C | CA363158239 | SLC17A1 | c.751C>G (p.Gln251Glu) c.*2C>G (n.*2C>G) c.735+118C>G (n.735+118C>G) c.664C>G (p.Gln222Glu) c.538C>G (p.Gln180Glu) c.901C>G (p.Gln301Glu) c.814C>G (p.Gln272Glu) c.885+118C>G (n.885+118C>G) c.817C>G (p.Gln273Glu) | |
| 6 | g.25812977G>T | CA363158237 | SLC17A1 | c.751C>A (p.Gln251Lys) c.*2C>A (n.*2C>A) c.735+118C>A (n.735+118C>A) c.664C>A (p.Gln222Lys) c.538C>A (p.Gln180Lys) c.901C>A (p.Gln301Lys) c.814C>A (p.Gln272Lys) c.885+118C>A (n.885+118C>A) c.817C>A (p.Gln273Lys) | |
| 6 | g.25812978T>A | CA363158241 | SLC17A1 | c.750A>T (p.Arg250Ser) c.*1A>T (n.*1A>T) c.735+117A>T (n.735+117A>T) c.663A>T (p.Arg221Ser) c.537A>T (p.Arg179Ser) c.900A>T (p.Arg300Ser) c.813A>T (p.Arg271Ser) c.885+117A>T (n.885+117A>T) c.816A>T (p.Arg272Ser) | |
| 6 | g.25812978T>C | CA448980420 | SLC17A1 | c.750A>G (p.Arg250=) c.*1A>G (n.*1A>G) c.735+117A>G (n.735+117A>G) c.663A>G (p.Arg221=) c.537A>G (p.Arg179=) c.900A>G (p.Arg300=) c.813A>G (p.Arg271=) c.885+117A>G (n.885+117A>G) c.816A>G (p.Arg272=) | gnomAD v4 |
| 6 | g.25812978T>G | CA363158242 | SLC17A1 | c.750A>C (p.Arg250Ser) c.*1A>C (n.*1A>C) c.735+117A>C (n.735+117A>C) c.663A>C (p.Arg221Ser) c.537A>C (p.Arg179Ser) c.900A>C (p.Arg300Ser) c.813A>C (p.Arg271Ser) c.885+117A>C (n.885+117A>C) c.816A>C (p.Arg272Ser) | |
| 6 | g.25812979C>A | CA363158244 | SLC17A1 | c.749G>T (p.Arg250Ile) c.630G>T (p.Ter210Tyr) c.735+116G>T (n.735+116G>T) c.662G>T (p.Arg221Ile) c.536G>T (p.Arg179Ile) c.899G>T (p.Arg300Ile) c.812G>T (p.Arg271Ile) c.885+116G>T (n.885+116G>T) c.815G>T (p.Arg272Ile) | |
| 6 | g.25812979C= | CA1616765653 | SLC17A1 | c.749G= (p.Arg250=) c.630G= (p.Ter210=) c.735+116G= (n.735+116G=) c.662G= (p.Arg221=) c.536G= (p.Arg179=) c.899G= (p.Arg300=) c.812G= (p.Arg271=) c.885+116G= (n.885+116G=) c.815G= (p.Arg272=) | |
| 6 | g.25812979C>G | CA3662608 | SLC17A1 | c.749G>C (p.Arg250Thr) c.630G>C (p.Ter210Tyr) c.735+116G>C (n.735+116G>C) c.662G>C (p.Arg221Thr) c.536G>C (p.Arg179Thr) c.899G>C (p.Arg300Thr) c.812G>C (p.Arg271Thr) c.885+116G>C (n.885+116G>C) c.815G>C (p.Arg272Thr) | dbSNP ExAC gnomAD v2 |
| 6 | g.25812979C>T | CA363158246 | SLC17A1 | c.749G>A (p.Arg250Lys) c.630G>A (p.Ter210=) c.735+116G>A (n.735+116G>A) c.662G>A (p.Arg221Lys) c.536G>A (p.Arg179Lys) c.899G>A (p.Arg300Lys) c.812G>A (p.Arg271Lys) c.885+116G>A (n.885+116G>A) c.815G>A (p.Arg272Lys) | gnomAD v4 |
| 6 | g.25812980T>A | CA363158248 | SLC17A1 | c.748A>T (p.Arg250Ter) c.629A>T (p.Ter210Leu) c.735+115A>T (n.735+115A>T) c.661A>T (p.Arg221Ter) c.535A>T (p.Arg179Ter) c.898A>T (p.Arg300Ter) c.811A>T (p.Arg271Ter) c.885+115A>T (n.885+115A>T) c.814A>T (p.Arg272Ter) | |
| 6 | g.25812980T>C | CA363158250 | SLC17A1 | c.748A>G (p.Arg250Gly) c.629A>G (p.Ter210Trp) c.735+115A>G (n.735+115A>G) c.661A>G (p.Arg221Gly) c.535A>G (p.Arg179Gly) c.898A>G (p.Arg300Gly) c.811A>G (p.Arg271Gly) c.885+115A>G (n.885+115A>G) c.814A>G (p.Arg272Gly) | gnomAD v4 |
| 6 | g.25812980T>G | CA448980422 | SLC17A1 | c.748A>C (p.Arg250=) c.629A>C (p.Ter210Ser) c.735+115A>C (n.735+115A>C) c.661A>C (p.Arg221=) c.535A>C (p.Arg179=) c.898A>C (p.Arg300=) c.811A>C (p.Arg271=) c.885+115A>C (n.885+115A>C) c.814A>C (p.Arg272=) | |
| 6 | g.25812981A= | CA1616765654 | SLC17A1 | c.747T= (p.Ser249=) c.628T= (p.Ter210=) c.735+114T= (n.735+114T=) c.660T= (p.Ser220=) c.534T= (p.Ser178=) c.897T= (p.Ser299=) c.810T= (p.Ser270=) c.885+114T= (n.885+114T=) c.813T= (p.Ser271=) | |
| 6 | g.25812981A>C | CA363158251 | SLC17A1 | c.747T>G (p.Ser249Arg) c.628T>G (p.Ter210Glu) c.735+114T>G (n.735+114T>G) c.660T>G (p.Ser220Arg) c.534T>G (p.Ser178Arg) c.897T>G (p.Ser299Arg) c.810T>G (p.Ser270Arg) c.885+114T>G (n.885+114T>G) c.813T>G (p.Ser271Arg) | |
| 6 | g.25812981A>G | CA3662609 | SLC17A1 | c.747T>C (p.Ser249=) c.628T>C (p.Ter210Gln) c.735+114T>C (n.735+114T>C) c.660T>C (p.Ser220=) c.534T>C (p.Ser178=) c.897T>C (p.Ser299=) c.810T>C (p.Ser270=) c.885+114T>C (n.885+114T>C) c.813T>C (p.Ser271=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.25812981A>T | CA363158254 | SLC17A1 | c.747T>A (p.Ser249Arg) c.628T>A (p.Ter210Lys) c.735+114T>A (n.735+114T>A) c.660T>A (p.Ser220Arg) c.534T>A (p.Ser178Arg) c.897T>A (p.Ser299Arg) c.810T>A (p.Ser270Arg) c.885+114T>A (n.885+114T>A) c.813T>A (p.Ser271Arg) | |
| 6 | g.25812982C>A | CA363158259 | SLC17A1 | c.746G>T (p.Ser249Ile) c.627G>T (p.Lys209Asn) c.735+113G>T (n.735+113G>T) c.659G>T (p.Ser220Ile) c.533G>T (p.Ser178Ile) c.896G>T (p.Ser299Ile) c.809G>T (p.Ser270Ile) c.885+113G>T (n.885+113G>T) c.812G>T (p.Ser271Ile) | |
| 6 | g.25812982C= | CA1616765655 | SLC17A1 | c.746G= (p.Ser249=) c.627G= (p.Lys209=) c.735+113G= (n.735+113G=) c.659G= (p.Ser220=) c.533G= (p.Ser178=) c.896G= (p.Ser299=) c.809G= (p.Ser270=) c.885+113G= (n.885+113G=) c.812G= (p.Ser271=) | |
| 6 | g.25812982C>G | CA363158257 | SLC17A1 | c.746G>C (p.Ser249Thr) c.627G>C (p.Lys209Asn) c.735+113G>C (n.735+113G>C) c.659G>C (p.Ser220Thr) c.533G>C (p.Ser178Thr) c.896G>C (p.Ser299Thr) c.809G>C (p.Ser270Thr) c.885+113G>C (n.885+113G>C) c.812G>C (p.Ser271Thr) | |
| 6 | g.25812982C>T | CA363158256 | SLC17A1 | c.746G>A (p.Ser249Asn) c.627G>A (p.Lys209=) c.735+113G>A (n.735+113G>A) c.659G>A (p.Ser220Asn) c.533G>A (p.Ser178Asn) c.896G>A (p.Ser299Asn) c.809G>A (p.Ser270Asn) c.885+113G>A (n.885+113G>A) c.812G>A (p.Ser271Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.25812983T>A | CA363158261 | SLC17A1 | c.745A>T (p.Ser249Cys) c.626A>T (p.Lys209Met) c.735+112A>T (n.735+112A>T) c.658A>T (p.Ser220Cys) c.532A>T (p.Ser178Cys) c.895A>T (p.Ser299Cys) c.808A>T (p.Ser270Cys) c.885+112A>T (n.885+112A>T) c.811A>T (p.Ser271Cys) | |
| 6 | g.25812983T>C | CA363158262 | SLC17A1 | c.745A>G (p.Ser249Gly) c.626A>G (p.Lys209Arg) c.735+112A>G (n.735+112A>G) c.658A>G (p.Ser220Gly) c.532A>G (p.Ser178Gly) c.895A>G (p.Ser299Gly) c.808A>G (p.Ser270Gly) c.885+112A>G (n.885+112A>G) c.811A>G (p.Ser271Gly) | |
| 6 | g.25812983T>G | CA363158264 | SLC17A1 | c.745A>C (p.Ser249Arg) c.626A>C (p.Lys209Thr) c.735+112A>C (n.735+112A>C) c.658A>C (p.Ser220Arg) c.532A>C (p.Ser178Arg) c.895A>C (p.Ser299Arg) c.808A>C (p.Ser270Arg) c.885+112A>C (n.885+112A>C) c.811A>C (p.Ser271Arg) | |
| 6 | g.25812984T>A | CA448980426 | SLC17A1 | c.744A>T (p.Ser248=) c.625A>T (p.Lys209Ter) c.735+111A>T (n.735+111A>T) c.657A>T (p.Ser219=) c.531A>T (p.Ser177=) c.894A>T (p.Ser298=) c.807A>T (p.Ser269=) c.885+111A>T (n.885+111A>T) c.810A>T (p.Ser270=) | |
| 6 | g.25812984T>C | CA448980427 | SLC17A1 | c.744A>G (p.Ser248=) c.625A>G (p.Lys209Glu) c.735+111A>G (n.735+111A>G) c.657A>G (p.Ser219=) c.531A>G (p.Ser177=) c.894A>G (p.Ser298=) c.807A>G (p.Ser269=) c.885+111A>G (n.885+111A>G) c.810A>G (p.Ser270=) | |
| 6 | g.25812984T>G | CA448980428 | SLC17A1 | c.744A>C (p.Ser248=) c.625A>C (p.Lys209Gln) c.735+111A>C (n.735+111A>C) c.657A>C (p.Ser219=) c.531A>C (p.Ser177=) c.894A>C (p.Ser298=) c.807A>C (p.Ser269=) c.885+111A>C (n.885+111A>C) c.810A>C (p.Ser270=) | |
| 6 | g.25812985G>A | CA363158266 | SLC17A1 | c.743C>T (p.Ser248Leu) c.624C>T (p.Phe208=) c.735+110C>T (n.735+110C>T) c.656C>T (p.Ser219Leu) c.530C>T (p.Ser177Leu) c.893C>T (p.Ser298Leu) c.806C>T (p.Ser269Leu) c.885+110C>T (n.885+110C>T) c.809C>T (p.Ser270Leu) | dbSNP gnomAD v4 |
| 6 | g.25812985G>C | CA363158267 | SLC17A1 | c.743C>G (p.Ser248Ter) c.624C>G (p.Phe208Leu) c.735+110C>G (n.735+110C>G) c.656C>G (p.Ser219Ter) c.530C>G (p.Ser177Ter) c.893C>G (p.Ser298Ter) c.806C>G (p.Ser269Ter) c.885+110C>G (n.885+110C>G) c.809C>G (p.Ser270Ter) | gnomAD v4 |
| 6 | g.25812985G= | CA1616765656 | SLC17A1 | c.743C= (p.Ser248=) c.624C= (p.Phe208=) c.735+110C= (n.735+110C=) c.656C= (p.Ser219=) c.530C= (p.Ser177=) c.893C= (p.Ser298=) c.806C= (p.Ser269=) c.885+110C= (n.885+110C=) c.809C= (p.Ser270=) | |
| 6 | g.25812985G>T | CA363158269 | SLC17A1 | c.743C>A (p.Ser248Ter) c.624C>A (p.Phe208Leu) c.735+110C>A (n.735+110C>A) c.656C>A (p.Ser219Ter) c.530C>A (p.Ser177Ter) c.893C>A (p.Ser298Ter) c.806C>A (p.Ser269Ter) c.885+110C>A (n.885+110C>A) c.809C>A (p.Ser270Ter) | |
| 6 | g.25812986A>C | CA363158270 | SLC17A1 | c.742T>G (p.Ser248Ala) c.623T>G (p.Phe208Cys) c.735+109T>G (n.735+109T>G) c.655T>G (p.Ser219Ala) c.529T>G (p.Ser177Ala) c.892T>G (p.Ser298Ala) c.805T>G (p.Ser269Ala) c.885+109T>G (n.885+109T>G) c.808T>G (p.Ser270Ala) | |
| 6 | g.25812986A>G | CA363158271 | SLC17A1 | c.742T>C (p.Ser248Pro) c.623T>C (p.Phe208Ser) c.735+109T>C (n.735+109T>C) c.655T>C (p.Ser219Pro) c.529T>C (p.Ser177Pro) c.892T>C (p.Ser298Pro) c.805T>C (p.Ser269Pro) c.885+109T>C (n.885+109T>C) c.808T>C (p.Ser270Pro) | gnomAD v4 |
| 6 | g.25812986A>T | CA363158273 | SLC17A1 | c.742T>A (p.Ser248Thr) c.623T>A (p.Phe208Tyr) c.735+109T>A (n.735+109T>A) c.655T>A (p.Ser219Thr) c.529T>A (p.Ser177Thr) c.892T>A (p.Ser298Thr) c.805T>A (p.Ser269Thr) c.885+109T>A (n.885+109T>A) c.808T>A (p.Ser270Thr) | |
| 6 | g.25812987A>C | CA363158275 | SLC17A1 | c.741T>G (p.Ser247Arg) c.622T>G (p.Phe208Val) c.735+108T>G (n.735+108T>G) c.654T>G (p.Ser218Arg) c.528T>G (p.Ser176Arg) c.891T>G (p.Ser297Arg) c.804T>G (p.Ser268Arg) c.885+108T>G (n.885+108T>G) c.807T>G (p.Ser269Arg) | |
| 6 | g.25812987A>G | CA448980429 | SLC17A1 | c.741T>C (p.Ser247=) c.622T>C (p.Phe208Leu) c.735+108T>C (n.735+108T>C) c.654T>C (p.Ser218=) c.528T>C (p.Ser176=) c.891T>C (p.Ser297=) c.804T>C (p.Ser268=) c.885+108T>C (n.885+108T>C) c.807T>C (p.Ser269=) | |
| 6 | g.25812987A>T | CA363158277 | SLC17A1 | c.741T>A (p.Ser247Arg) c.622T>A (p.Phe208Ile) c.735+108T>A (n.735+108T>A) c.654T>A (p.Ser218Arg) c.528T>A (p.Ser176Arg) c.891T>A (p.Ser297Arg) c.804T>A (p.Ser268Arg) c.885+108T>A (n.885+108T>A) c.807T>A (p.Ser269Arg) | |
| 6 | g.25812988C>A | CA363158280 | SLC17A1 | c.740G>T (p.Ser247Ile) c.621G>T (p.Gln207His) c.735+107G>T (n.735+107G>T) c.653G>T (p.Ser218Ile) c.527G>T (p.Ser176Ile) c.890G>T (p.Ser297Ile) c.803G>T (p.Ser268Ile) c.885+107G>T (n.885+107G>T) c.806G>T (p.Ser269Ile) | |
| 6 | g.25812988C>G | CA363158281 | SLC17A1 | c.740G>C (p.Ser247Thr) c.621G>C (p.Gln207His) c.735+107G>C (n.735+107G>C) c.653G>C (p.Ser218Thr) c.527G>C (p.Ser176Thr) c.890G>C (p.Ser297Thr) c.803G>C (p.Ser268Thr) c.885+107G>C (n.885+107G>C) c.806G>C (p.Ser269Thr) | |
| 6 | g.25812988C>T | CA363158278 | SLC17A1 | c.740G>A (p.Ser247Asn) c.621G>A (p.Gln207=) c.735+107G>A (n.735+107G>A) c.653G>A (p.Ser218Asn) c.527G>A (p.Ser176Asn) c.890G>A (p.Ser297Asn) c.803G>A (p.Ser268Asn) c.885+107G>A (n.885+107G>A) c.806G>A (p.Ser269Asn) | gnomAD v4 |
| 6 | g.25812991_25812995del | CA2578547743 | SLC17A1 | c.736_740del c.617_621del c.735+103_735+107del (n.735+103_735+107del) c.649_653del c.523_527del c.886_890del c.799_803del c.885+103_885+107del (n.885+103_885+107del) c.802_806del | |
| 6 | g.25812989T>A | CA363158283 | SLC17A1 | c.739A>T (p.Ser247Cys) c.620A>T (p.Gln207Leu) c.735+106A>T (n.735+106A>T) c.652A>T (p.Ser218Cys) c.526A>T (p.Ser176Cys) c.889A>T (p.Ser297Cys) c.802A>T (p.Ser268Cys) c.885+106A>T (n.885+106A>T) c.805A>T (p.Ser269Cys) | |
| 6 | g.25812989T>C | CA363158285 | SLC17A1 | c.739A>G (p.Ser247Gly) c.620A>G (p.Gln207Arg) c.735+106A>G (n.735+106A>G) c.652A>G (p.Ser218Gly) c.526A>G (p.Ser176Gly) c.889A>G (p.Ser297Gly) c.802A>G (p.Ser268Gly) c.885+106A>G (n.885+106A>G) c.805A>G (p.Ser269Gly) | |
| 6 | g.25812989T>G | CA136229915 | SLC17A1 | c.739A>C (p.Ser247Arg) c.620A>C (p.Gln207Pro) c.735+106A>C (n.735+106A>C) c.652A>C (p.Ser218Arg) c.526A>C (p.Ser176Arg) c.889A>C (p.Ser297Arg) c.802A>C (p.Ser268Arg) c.885+106A>C (n.885+106A>C) c.805A>C (p.Ser269Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.25812989T= | CA1616765657 | SLC17A1 | c.739A= (p.Ser247=) c.620A= (p.Gln207=) c.735+106A= (n.735+106A=) c.652A= (p.Ser218=) c.526A= (p.Ser176=) c.889A= (p.Ser297=) c.802A= (p.Ser268=) c.885+106A= (n.885+106A=) c.805A= (p.Ser269=) | |
| 6 | g.25812990G>A | CA448980430 | SLC17A1 | c.738C>T (p.Val246=) c.619C>T (p.Gln207Ter) c.735+105C>T (n.735+105C>T) c.651C>T (p.Val217=) c.525C>T (p.Val175=) c.888C>T (p.Val296=) c.801C>T (p.Val267=) c.885+105C>T (n.885+105C>T) c.804C>T (p.Val268=) | |
| 6 | g.25812990G>C | CA448980431 | SLC17A1 | c.738C>G (p.Val246=) c.619C>G (p.Gln207Glu) c.735+105C>G (n.735+105C>G) c.651C>G (p.Val217=) c.525C>G (p.Val175=) c.888C>G (p.Val296=) c.801C>G (p.Val267=) c.885+105C>G (n.885+105C>G) c.804C>G (p.Val268=) | |
| 6 | g.25812990G>T | CA448980432 | SLC17A1 | c.738C>A (p.Val246=) c.619C>A (p.Gln207Lys) c.735+105C>A (n.735+105C>A) c.651C>A (p.Val217=) c.525C>A (p.Val175=) c.888C>A (p.Val296=) c.801C>A (p.Val267=) c.885+105C>A (n.885+105C>A) c.804C>A (p.Val268=) | |
| 6 | g.25812991A>C | CA363158288 | SLC17A1 | c.737T>G (p.Val246Gly) c.618T>G (p.Gly206=) c.735+104T>G (n.735+104T>G) c.650T>G (p.Val217Gly) c.524T>G (p.Val175Gly) c.887T>G (p.Val296Gly) c.800T>G (p.Val267Gly) c.885+104T>G (n.885+104T>G) c.803T>G (p.Val268Gly) | |
| 6 | g.25812991A>G | CA363158289 | SLC17A1 | c.737T>C (p.Val246Ala) c.618T>C (p.Gly206=) c.735+104T>C (n.735+104T>C) c.650T>C (p.Val217Ala) c.524T>C (p.Val175Ala) c.887T>C (p.Val296Ala) c.800T>C (p.Val267Ala) c.885+104T>C (n.885+104T>C) c.803T>C (p.Val268Ala) | |
| 6 | g.25812991A>T | CA363158290 | SLC17A1 | c.737T>A (p.Val246Asp) c.618T>A (p.Gly206=) c.735+104T>A (n.735+104T>A) c.650T>A (p.Val217Asp) c.524T>A (p.Val175Asp) c.887T>A (p.Val296Asp) c.800T>A (p.Val267Asp) c.885+104T>A (n.885+104T>A) c.803T>A (p.Val268Asp) | |
| 6 | g.25812992C>A | CA3662610 | SLC17A1 | c.736G>T (p.Val246Phe) c.617G>T (p.Gly206Val) c.735+103G>T (n.735+103G>T) c.649G>T (p.Val217Phe) c.523G>T (p.Val175Phe) c.886G>T (p.Val296Phe) c.799G>T (p.Val267Phe) c.885+103G>T (n.885+103G>T) c.802G>T (p.Val268Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.25812992C= | CA1616765658 | SLC17A1 | c.736G= (p.Val246=) c.617G= (p.Gly206=) c.735+103G= (n.735+103G=) c.649G= (p.Val217=) c.523G= (p.Val175=) c.886G= (p.Val296=) c.799G= (p.Val267=) c.885+103G= (n.885+103G=) c.802G= (p.Val268=) | |
| 6 | g.25812992C>G | CA363158293 | SLC17A1 | c.736G>C (p.Val246Leu) c.617G>C (p.Gly206Ala) c.735+103G>C (n.735+103G>C) c.649G>C (p.Val217Leu) c.523G>C (p.Val175Leu) c.886G>C (p.Val296Leu) c.799G>C (p.Val267Leu) c.885+103G>C (n.885+103G>C) c.802G>C (p.Val268Leu) | |
| 6 | g.25812992C>T | CA363158295 | SLC17A1 | c.736G>A (p.Val246Ile) c.617G>A (p.Gly206Asp) c.735+103G>A (n.735+103G>A) c.649G>A (p.Val217Ile) c.523G>A (p.Val175Ile) c.886G>A (p.Val296Ile) c.799G>A (p.Val267Ile) c.885+103G>A (n.885+103G>A) c.802G>A (p.Val268Ile) | |
| 6 | g.25812993C>A | CA363158297 | SLC17A1 | c.736-1G>T (n.736-1G>T) c.617-1G>T (n.617-1G>T) c.735+102G>T (n.735+102G>T) c.649-1G>T (n.649-1G>T) c.523-1G>T (n.523-1G>T) c.886-1G>T (n.886-1G>T) c.799-1G>T (n.799-1G>T) c.885+102G>T (n.885+102G>T) c.802-1G>T (n.802-1G>T) | gnomAD v4 |
| 6 | g.25812993C>G | CA363158299 | SLC17A1 | c.736-1G>C (n.736-1G>C) c.617-1G>C (n.617-1G>C) c.735+102G>C (n.735+102G>C) c.649-1G>C (n.649-1G>C) c.523-1G>C (n.523-1G>C) c.886-1G>C (n.886-1G>C) c.799-1G>C (n.799-1G>C) c.885+102G>C (n.885+102G>C) c.802-1G>C (n.802-1G>C) | |
| 6 | g.25812993C>T | CA363158300 | SLC17A1 | c.736-1G>A (n.736-1G>A) c.617-1G>A (n.617-1G>A) c.735+102G>A (n.735+102G>A) c.649-1G>A (n.649-1G>A) c.523-1G>A (n.523-1G>A) c.886-1G>A (n.886-1G>A) c.799-1G>A (n.799-1G>A) c.885+102G>A (n.885+102G>A) c.802-1G>A (n.802-1G>A) | gnomAD v4 |
| 6 | g.25812994T>A | CA3662611 | SLC17A1 | c.736-2A>T (n.736-2A>T) c.617-2A>T (n.617-2A>T) c.735+101A>T (n.735+101A>T) c.649-2A>T (n.649-2A>T) c.523-2A>T (n.523-2A>T) c.886-2A>T (n.886-2A>T) c.799-2A>T (n.799-2A>T) c.885+101A>T (n.885+101A>T) c.802-2A>T (n.802-2A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.25812994T>C | CA363158302 | SLC17A1 | c.736-2A>G (n.736-2A>G) c.617-2A>G (n.617-2A>G) c.735+101A>G (n.735+101A>G) c.649-2A>G (n.649-2A>G) c.523-2A>G (n.523-2A>G) c.886-2A>G (n.886-2A>G) c.799-2A>G (n.799-2A>G) c.885+101A>G (n.885+101A>G) c.802-2A>G (n.802-2A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.25812994T>G | CA363158304 | SLC17A1 | c.736-2A>C (n.736-2A>C) c.617-2A>C (n.617-2A>C) c.735+101A>C (n.735+101A>C) c.649-2A>C (n.649-2A>C) c.523-2A>C (n.523-2A>C) c.886-2A>C (n.886-2A>C) c.799-2A>C (n.799-2A>C) c.885+101A>C (n.885+101A>C) c.802-2A>C (n.802-2A>C) | |
| 6 | g.25812994T= | CA1616765659 | SLC17A1 | c.736-2A= (n.736-2A=) c.617-2A= (n.617-2A=) c.735+101A= (n.735+101A=) c.649-2A= (n.649-2A=) c.523-2A= (n.523-2A=) c.886-2A= (n.886-2A=) c.799-2A= (n.799-2A=) c.885+101A= (n.885+101A=) c.802-2A= (n.802-2A=) | |
| 6 | g.25812995G>C | CA1616765661 | SLC17A1 | c.736-3C>G (n.736-3C>G) c.617-3C>G (n.617-3C>G) c.735+100C>G (n.735+100C>G) c.649-3C>G (n.649-3C>G) c.523-3C>G (n.523-3C>G) c.886-3C>G (n.886-3C>G) c.799-3C>G (n.799-3C>G) c.885+100C>G (n.885+100C>G) c.802-3C>G (n.802-3C>G) | dbSNP gnomAD v4 |
| 6 | g.25812995G= | CA1616765660 | SLC17A1 | c.736-3C= (n.736-3C=) c.617-3C= (n.617-3C=) c.735+100C= (n.735+100C=) c.649-3C= (n.649-3C=) c.523-3C= (n.523-3C=) c.886-3C= (n.886-3C=) c.799-3C= (n.799-3C=) c.885+100C= (n.885+100C=) c.802-3C= (n.802-3C=) | |
| 6 | g.25812996G>A | CA823427325 | SLC17A1 | c.736-4C>T (n.736-4C>T) c.617-4C>T (n.617-4C>T) c.735+99C>T (n.735+99C>T) c.649-4C>T (n.649-4C>T) c.523-4C>T (n.523-4C>T) c.886-4C>T (n.886-4C>T) c.799-4C>T (n.799-4C>T) c.885+99C>T (n.885+99C>T) c.802-4C>T (n.802-4C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.25812996G= | CA1616765662 | SLC17A1 | c.736-4C= (n.736-4C=) c.617-4C= (n.617-4C=) c.735+99C= (n.735+99C=) c.649-4C= (n.649-4C=) c.523-4C= (n.523-4C=) c.886-4C= (n.886-4C=) c.799-4C= (n.799-4C=) c.885+99C= (n.885+99C=) c.802-4C= (n.802-4C=) | |
| 6 | g.25812997A= | CA1616765663 | SLC17A1 | c.736-5T= (n.736-5T=) c.617-5T= (n.617-5T=) c.735+98T= (n.735+98T=) c.649-5T= (n.649-5T=) c.523-5T= (n.523-5T=) c.886-5T= (n.886-5T=) c.799-5T= (n.799-5T=) c.885+98T= (n.885+98T=) c.802-5T= (n.802-5T=) | |
| 6 | g.25812997A>G | CA566287414 | SLC17A1 | c.736-5T>C (n.736-5T>C) c.617-5T>C (n.617-5T>C) c.735+98T>C (n.735+98T>C) c.649-5T>C (n.649-5T>C) c.523-5T>C (n.523-5T>C) c.886-5T>C (n.886-5T>C) c.799-5T>C (n.799-5T>C) c.885+98T>C (n.885+98T>C) c.802-5T>C (n.802-5T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.25812998G>A | CA2740728430 | SLC17A1 | c.736-6C>T (n.736-6C>T) c.617-6C>T (n.617-6C>T) c.735+97C>T (n.735+97C>T) c.649-6C>T (n.649-6C>T) c.523-6C>T (n.523-6C>T) c.886-6C>T (n.886-6C>T) c.799-6C>T (n.799-6C>T) c.885+97C>T (n.885+97C>T) c.802-6C>T (n.802-6C>T) | |
| 6 | g.25813000G= | CA1616765664 | SLC17A1 | c.736-8C= (n.736-8C=) c.617-8C= (n.617-8C=) c.735+95C= (n.735+95C=) c.649-8C= (n.649-8C=) c.523-8C= (n.523-8C=) c.886-8C= (n.886-8C=) c.799-8C= (n.799-8C=) c.885+95C= (n.885+95C=) c.802-8C= (n.802-8C=) | |
| 6 | g.25813000G>T | CA566287415 | SLC17A1 | c.736-8C>A (n.736-8C>A) c.617-8C>A (n.617-8C>A) c.735+95C>A (n.735+95C>A) c.649-8C>A (n.649-8C>A) c.523-8C>A (n.523-8C>A) c.886-8C>A (n.886-8C>A) c.799-8C>A (n.799-8C>A) c.885+95C>A (n.885+95C>A) c.802-8C>A (n.802-8C>A) | dbSNP gnomAD v2 |
| 6 | g.25813003A= | CA1616765665 | SLC17A1 | c.736-11T= (n.736-11T=) c.617-11T= (n.617-11T=) c.735+92T= (n.735+92T=) c.649-11T= (n.649-11T=) c.523-11T= (n.523-11T=) c.886-11T= (n.886-11T=) c.799-11T= (n.799-11T=) c.885+92T= (n.885+92T=) c.802-11T= (n.802-11T=) | |
| 6 | g.25813003A>G | CA3662612 | SLC17A1 | c.736-11T>C (n.736-11T>C) c.617-11T>C (n.617-11T>C) c.735+92T>C (n.735+92T>C) c.649-11T>C (n.649-11T>C) c.523-11T>C (n.523-11T>C) c.886-11T>C (n.886-11T>C) c.799-11T>C (n.799-11T>C) c.885+92T>C (n.885+92T>C) c.802-11T>C (n.802-11T>C) | dbSNP ExAC gnomAD v2 |
| 6 | g.25813003A>T | CA2677592045 | SLC17A1 | c.736-11T>A (n.736-11T>A) c.617-11T>A (n.617-11T>A) c.735+92T>A (n.735+92T>A) c.649-11T>A (n.649-11T>A) c.523-11T>A (n.523-11T>A) c.886-11T>A (n.886-11T>A) c.799-11T>A (n.799-11T>A) c.885+92T>A (n.885+92T>A) c.802-11T>A (n.802-11T>A) | gnomAD v4 |
| 6 | g.25813005T>C | CA3662613 | SLC17A1 | c.736-13A>G (n.736-13A>G) c.617-13A>G (n.617-13A>G) c.735+90A>G (n.735+90A>G) c.649-13A>G (n.649-13A>G) c.523-13A>G (n.523-13A>G) c.886-13A>G (n.886-13A>G) c.799-13A>G (n.799-13A>G) c.885+90A>G (n.885+90A>G) c.802-13A>G (n.802-13A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.25813005T= | CA1616765666 | SLC17A1 | c.736-13A= (n.736-13A=) c.617-13A= (n.617-13A=) c.735+90A= (n.735+90A=) c.649-13A= (n.649-13A=) c.523-13A= (n.523-13A=) c.886-13A= (n.886-13A=) c.799-13A= (n.799-13A=) c.885+90A= (n.885+90A=) c.802-13A= (n.802-13A=) | |
| 6 | g.25813006C>A | CA1616765668 | SLC17A1 | c.736-14G>T (n.736-14G>T) c.617-14G>T (n.617-14G>T) c.735+89G>T (n.735+89G>T) c.649-14G>T (n.649-14G>T) c.523-14G>T (n.523-14G>T) c.886-14G>T (n.886-14G>T) c.799-14G>T (n.799-14G>T) c.885+89G>T (n.885+89G>T) c.802-14G>T (n.802-14G>T) | dbSNP |
| 6 | g.25813006C= | CA1616765667 | SLC17A1 | c.736-14G= (n.736-14G=) c.617-14G= (n.617-14G=) c.735+89G= (n.735+89G=) c.649-14G= (n.649-14G=) c.523-14G= (n.523-14G=) c.886-14G= (n.886-14G=) c.799-14G= (n.799-14G=) c.885+89G= (n.885+89G=) c.802-14G= (n.802-14G=) | |
| 6 | g.25813006C>G | CA136229947 | SLC17A1 | c.736-14G>C (n.736-14G>C) c.617-14G>C (n.617-14G>C) c.735+89G>C (n.735+89G>C) c.649-14G>C (n.649-14G>C) c.523-14G>C (n.523-14G>C) c.886-14G>C (n.886-14G>C) c.799-14G>C (n.799-14G>C) c.885+89G>C (n.885+89G>C) c.802-14G>C (n.802-14G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.25813007A= | CA1616765669 | SLC17A1 | c.736-15T= (n.736-15T=) c.617-15T= (n.617-15T=) c.735+88T= (n.735+88T=) c.649-15T= (n.649-15T=) c.523-15T= (n.523-15T=) c.886-15T= (n.886-15T=) c.799-15T= (n.799-15T=) c.885+88T= (n.885+88T=) c.802-15T= (n.802-15T=) | |
| 6 | g.25813007A>G | CA2578547744 | SLC17A1 | c.736-15T>C (n.736-15T>C) c.617-15T>C (n.617-15T>C) c.735+88T>C (n.735+88T>C) c.649-15T>C (n.649-15T>C) c.523-15T>C (n.523-15T>C) c.886-15T>C (n.886-15T>C) c.799-15T>C (n.799-15T>C) c.885+88T>C (n.885+88T>C) c.802-15T>C (n.802-15T>C) | gnomAD v4 |
| 6 | g.25813007A>T | CA1616765670 | SLC17A1 | c.736-15T>A (n.736-15T>A) c.617-15T>A (n.617-15T>A) c.735+88T>A (n.735+88T>A) c.649-15T>A (n.649-15T>A) c.523-15T>A (n.523-15T>A) c.886-15T>A (n.886-15T>A) c.799-15T>A (n.799-15T>A) c.885+88T>A (n.885+88T>A) c.802-15T>A (n.802-15T>A) | dbSNP gnomAD v4 |
| 6 | g.25813008T>C | CA1616765672 | SLC17A1 | c.736-16A>G (n.736-16A>G) c.617-16A>G (n.617-16A>G) c.735+87A>G (n.735+87A>G) c.649-16A>G (n.649-16A>G) c.523-16A>G (n.523-16A>G) c.886-16A>G (n.886-16A>G) c.799-16A>G (n.799-16A>G) c.885+87A>G (n.885+87A>G) c.802-16A>G (n.802-16A>G) | dbSNP |
| 6 | g.25813008T= | CA1616765671 | SLC17A1 | c.736-16A= (n.736-16A=) c.617-16A= (n.617-16A=) c.735+87A= (n.735+87A=) c.649-16A= (n.649-16A=) c.523-16A= (n.523-16A=) c.886-16A= (n.886-16A=) c.799-16A= (n.799-16A=) c.885+87A= (n.885+87A=) c.802-16A= (n.802-16A=) | |
| 6 | g.25813009T>A | CA2677592046 | SLC17A1 | c.736-17A>T (n.736-17A>T) c.617-17A>T (n.617-17A>T) c.735+86A>T (n.735+86A>T) c.649-17A>T (n.649-17A>T) c.523-17A>T (n.523-17A>T) c.886-17A>T (n.886-17A>T) c.799-17A>T (n.799-17A>T) c.885+86A>T (n.885+86A>T) c.802-17A>T (n.802-17A>T) | gnomAD v4 |
| 6 | g.25813011A= | CA1616765673 | SLC17A1 | c.736-19T= (n.736-19T=) c.617-19T= (n.617-19T=) c.735+84T= (n.735+84T=) c.649-19T= (n.649-19T=) c.523-19T= (n.523-19T=) c.886-19T= (n.886-19T=) c.799-19T= (n.799-19T=) c.885+84T= (n.885+84T=) c.802-19T= (n.802-19T=) | |
| 6 | g.25813011A>G | CA566287416 | SLC17A1 | c.736-19T>C (n.736-19T>C) c.617-19T>C (n.617-19T>C) c.735+84T>C (n.735+84T>C) c.649-19T>C (n.649-19T>C) c.523-19T>C (n.523-19T>C) c.886-19T>C (n.886-19T>C) c.799-19T>C (n.799-19T>C) c.885+84T>C (n.885+84T>C) c.802-19T>C (n.802-19T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.25813011A>T | CA1087048904 | SLC17A1 | c.736-19T>A (n.736-19T>A) c.617-19T>A (n.617-19T>A) c.735+84T>A (n.735+84T>A) c.649-19T>A (n.649-19T>A) c.523-19T>A (n.523-19T>A) c.886-19T>A (n.886-19T>A) c.799-19T>A (n.799-19T>A) c.885+84T>A (n.885+84T>A) c.802-19T>A (n.802-19T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.25813012G>T | CA2677592047 | SLC17A1 | c.736-20C>A (n.736-20C>A) c.617-20C>A (n.617-20C>A) c.735+83C>A (n.735+83C>A) c.649-20C>A (n.649-20C>A) c.523-20C>A (n.523-20C>A) c.886-20C>A (n.886-20C>A) c.799-20C>A (n.799-20C>A) c.885+83C>A (n.885+83C>A) c.802-20C>A (n.802-20C>A) | dbSNP gnomAD v4 |
| 6 | g.25813014A= | CA1616765674 | SLC17A1 | c.736-22T= (n.736-22T=) c.617-22T= (n.617-22T=) c.735+81T= (n.735+81T=) c.649-22T= (n.649-22T=) c.523-22T= (n.523-22T=) c.886-22T= (n.886-22T=) c.799-22T= (n.799-22T=) c.885+81T= (n.885+81T=) c.802-22T= (n.802-22T=) | |
| 6 | g.25813014A>C | CA2677592048 | SLC17A1 | c.736-22T>G (n.736-22T>G) c.617-22T>G (n.617-22T>G) c.735+81T>G (n.735+81T>G) c.649-22T>G (n.649-22T>G) c.523-22T>G (n.523-22T>G) c.886-22T>G (n.886-22T>G) c.799-22T>G (n.799-22T>G) c.885+81T>G (n.885+81T>G) c.802-22T>G (n.802-22T>G) | gnomAD v4 |
| 6 | g.25813014A>G | CA566287417 | SLC17A1 | c.736-22T>C (n.736-22T>C) c.617-22T>C (n.617-22T>C) c.735+81T>C (n.735+81T>C) c.649-22T>C (n.649-22T>C) c.523-22T>C (n.523-22T>C) c.886-22T>C (n.886-22T>C) c.799-22T>C (n.799-22T>C) c.885+81T>C (n.885+81T>C) c.802-22T>C (n.802-22T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.25813015T>G | CA2677592049 | SLC17A1 | c.736-23A>C (n.736-23A>C) c.617-23A>C (n.617-23A>C) c.735+80A>C (n.735+80A>C) c.649-23A>C (n.649-23A>C) c.523-23A>C (n.523-23A>C) c.886-23A>C (n.886-23A>C) c.799-23A>C (n.799-23A>C) c.885+80A>C (n.885+80A>C) c.802-23A>C (n.802-23A>C) | gnomAD v4 |
| 6 | g.25813016T>C | CA2677592050 | SLC17A1 | c.736-24A>G (n.736-24A>G) c.617-24A>G (n.617-24A>G) c.735+79A>G (n.735+79A>G) c.649-24A>G (n.649-24A>G) c.523-24A>G (n.523-24A>G) c.886-24A>G (n.886-24A>G) c.799-24A>G (n.799-24A>G) c.885+79A>G (n.885+79A>G) c.802-24A>G (n.802-24A>G) | gnomAD v4 |
| 6 | g.25813017A= | CA1616765675 | SLC17A1 | c.736-25T= (n.736-25T=) c.617-25T= (n.617-25T=) c.735+78T= (n.735+78T=) c.649-25T= (n.649-25T=) c.523-25T= (n.523-25T=) c.886-25T= (n.886-25T=) c.799-25T= (n.799-25T=) c.885+78T= (n.885+78T=) c.802-25T= (n.802-25T=) | |
| 6 | g.25813017A>G | CA1616765676 | SLC17A1 | c.736-25T>C (n.736-25T>C) c.617-25T>C (n.617-25T>C) c.735+78T>C (n.735+78T>C) c.649-25T>C (n.649-25T>C) c.523-25T>C (n.523-25T>C) c.886-25T>C (n.886-25T>C) c.799-25T>C (n.799-25T>C) c.885+78T>C (n.885+78T>C) c.802-25T>C (n.802-25T>C) | dbSNP |
| 6 | g.25813018G>C | CA823427339 | SLC17A1 | c.736-26C>G (n.736-26C>G) c.617-26C>G (n.617-26C>G) c.735+77C>G (n.735+77C>G) c.649-26C>G (n.649-26C>G) c.523-26C>G (n.523-26C>G) c.886-26C>G (n.886-26C>G) c.799-26C>G (n.799-26C>G) c.885+77C>G (n.885+77C>G) c.802-26C>G (n.802-26C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.25813018G= | CA1616765677 | SLC17A1 | c.736-26C= (n.736-26C=) c.617-26C= (n.617-26C=) c.735+77C= (n.735+77C=) c.649-26C= (n.649-26C=) c.523-26C= (n.523-26C=) c.886-26C= (n.886-26C=) c.799-26C= (n.799-26C=) c.885+77C= (n.885+77C=) c.802-26C= (n.802-26C=) | |
| 6 | g.25813020A= | CA1616765678 | SLC17A1 | c.736-28T= (n.736-28T=) c.617-28T= (n.617-28T=) c.735+75T= (n.735+75T=) c.649-28T= (n.649-28T=) c.523-28T= (n.523-28T=) c.886-28T= (n.886-28T=) c.799-28T= (n.799-28T=) c.885+75T= (n.885+75T=) c.802-28T= (n.802-28T=) | |
| 6 | g.25813020A>G | CA3662614 | SLC17A1 | c.736-28T>C (n.736-28T>C) c.617-28T>C (n.617-28T>C) c.735+75T>C (n.735+75T>C) c.649-28T>C (n.649-28T>C) c.523-28T>C (n.523-28T>C) c.886-28T>C (n.886-28T>C) c.799-28T>C (n.799-28T>C) c.885+75T>C (n.885+75T>C) c.802-28T>C (n.802-28T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.25813021C>T | CA2578547745 | SLC17A1 | c.736-29G>A (n.736-29G>A) c.617-29G>A (n.617-29G>A) c.735+74G>A (n.735+74G>A) c.649-29G>A (n.649-29G>A) c.523-29G>A (n.523-29G>A) c.886-29G>A (n.886-29G>A) c.799-29G>A (n.799-29G>A) c.885+74G>A (n.885+74G>A) c.802-29G>A (n.802-29G>A) | gnomAD v4 |
| 6 | g.25813022A>G | CA2677592051 | SLC17A1 | c.736-30T>C (n.736-30T>C) c.617-30T>C (n.617-30T>C) c.735+73T>C (n.735+73T>C) c.649-30T>C (n.649-30T>C) c.523-30T>C (n.523-30T>C) c.886-30T>C (n.886-30T>C) c.799-30T>C (n.799-30T>C) c.885+73T>C (n.885+73T>C) c.802-30T>C (n.802-30T>C) | gnomAD v4 |
| 6 | g.25813023T>G | CA3662615 | SLC17A1 | c.736-31A>C (n.736-31A>C) c.617-31A>C (n.617-31A>C) c.735+72A>C (n.735+72A>C) c.649-31A>C (n.649-31A>C) c.523-31A>C (n.523-31A>C) c.886-31A>C (n.886-31A>C) c.799-31A>C (n.799-31A>C) c.885+72A>C (n.885+72A>C) c.802-31A>C (n.802-31A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.25813023T= | CA1616765679 | SLC17A1 | c.736-31A= (n.736-31A=) c.617-31A= (n.617-31A=) c.735+72A= (n.735+72A=) c.649-31A= (n.649-31A=) c.523-31A= (n.523-31A=) c.886-31A= (n.886-31A=) c.799-31A= (n.799-31A=) c.885+72A= (n.885+72A=) c.802-31A= (n.802-31A=) | |
| 6 | g.25813025A= | CA1616765680 | SLC17A1 | c.736-33T= (n.736-33T=) c.617-33T= (n.617-33T=) c.735+70T= (n.735+70T=) c.649-33T= (n.649-33T=) c.523-33T= (n.523-33T=) c.886-33T= (n.886-33T=) c.799-33T= (n.799-33T=) c.885+70T= (n.885+70T=) c.802-33T= (n.802-33T=) | |
| 6 | g.25813025A>G | CA1616765681 | SLC17A1 | c.736-33T>C (n.736-33T>C) c.617-33T>C (n.617-33T>C) c.735+70T>C (n.735+70T>C) c.649-33T>C (n.649-33T>C) c.523-33T>C (n.523-33T>C) c.886-33T>C (n.886-33T>C) c.799-33T>C (n.799-33T>C) c.885+70T>C (n.885+70T>C) c.802-33T>C (n.802-33T>C) | dbSNP |
| 6 | g.25813032A= | CA1616765682 | SLC17A1 | c.736-40T= (n.736-40T=) c.617-40T= (n.617-40T=) c.735+63T= (n.735+63T=) c.649-40T= (n.649-40T=) c.523-40T= (n.523-40T=) c.886-40T= (n.886-40T=) c.799-40T= (n.799-40T=) c.885+63T= (n.885+63T=) c.802-40T= (n.802-40T=) | |
| 6 | g.25813032A>G | CA3662616 | SLC17A1 | c.736-40T>C (n.736-40T>C) c.617-40T>C (n.617-40T>C) c.735+63T>C (n.735+63T>C) c.649-40T>C (n.649-40T>C) c.523-40T>C (n.523-40T>C) c.886-40T>C (n.886-40T>C) c.799-40T>C (n.799-40T>C) c.885+63T>C (n.885+63T>C) c.802-40T>C (n.802-40T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.25813035G>A | CA2677592052 | SLC17A1 | c.736-43C>T (n.736-43C>T) c.617-43C>T (n.617-43C>T) c.735+60C>T (n.735+60C>T) c.649-43C>T (n.649-43C>T) c.523-43C>T (n.523-43C>T) c.886-43C>T (n.886-43C>T) c.799-43C>T (n.799-43C>T) c.885+60C>T (n.885+60C>T) c.802-43C>T (n.802-43C>T) | gnomAD v4 |