UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.25918530del | CA2677596674 | SLC17A2 | c.607del (p.Ile203SerfsTer5) c.538del (p.Ile180SerfsTer5) | gnomAD v4 |
| 6 | g.25918530T>A | CA448981186 | SLC17A2 | c.606A>T (p.Leu202=) c.537A>T (p.Leu179=) | |
| 6 | g.25918530T>C | CA448981188 | SLC17A2 | c.606A>G (p.Leu202=) c.537A>G (p.Leu179=) | gnomAD v4 |
| 6 | g.25918530T>G | CA448981190 | SLC17A2 | c.606A>C (p.Leu202=) c.537A>C (p.Leu179=) | |
| 6 | g.25918531A= | CA1616810462 | SLC17A2 | c.605T= (p.Leu202=) c.536T= (p.Leu179=) | |
| 6 | g.25918531A>C | CA363169081 | SLC17A2 | c.605T>G (p.Leu202Arg) c.536T>G (p.Leu179Arg) | |
| 6 | g.25918531A>G | CA363169089 | SLC17A2 | c.605T>C (p.Leu202Pro) c.536T>C (p.Leu179Pro) | dbSNP gnomAD v4 |
| 6 | g.25918531A>T | CA363169091 | SLC17A2 | c.605T>A (p.Leu202Gln) c.536T>A (p.Leu179Gln) | |
| 6 | g.25918532G>A | CA448981192 | SLC17A2 | c.604C>T (p.Leu202=) c.535C>T (p.Leu179=) | |
| 6 | g.25918532G>C | CA363169093 | SLC17A2 | c.604C>G (p.Leu202Val) c.535C>G (p.Leu179Val) | |
| 6 | g.25918532G>T | CA363169096 | SLC17A2 | c.604C>A (p.Leu202Ile) c.535C>A (p.Leu179Ile) | COSMIC COSMIC |
| 6 | g.25918533T>A | CA448981193 | SLC17A2 | c.603A>T (p.Gly201=) c.534A>T (p.Gly178=) | |
| 6 | g.25918533T>C | CA448981194 | SLC17A2 | c.603A>G (p.Gly201=) c.534A>G (p.Gly178=) | |
| 6 | g.25918533T>G | CA448981195 | SLC17A2 | c.603A>C (p.Gly201=) c.534A>C (p.Gly178=) | |
| 6 | g.25918533T= | CA1616810463 | SLC17A2 | c.603A= (p.Gly201=) c.534A= (p.Gly178=) | |
| 6 | g.25918534C>A | CA3663531 | SLC17A2 | c.602G>T (p.Gly201Val) c.533G>T (p.Gly178Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.25918534C= | CA1616810464 | SLC17A2 | c.602G= (p.Gly201=) c.533G= (p.Gly178=) | |
| 6 | g.25918534C>G | CA3663530 | SLC17A2 | c.602G>C (p.Gly201Ala) c.533G>C (p.Gly178Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.25918534C>T | CA363169103 | SLC17A2 | c.602G>A (p.Gly201Glu) c.533G>A (p.Gly178Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.25918539dup | CA823427526 | SLC17A2 | c.602dup (p.Leu202ThrfsTer17) c.533dup (p.Leu179ThrfsTer17) | dbSNP gnomAD v4 |
| 6 | g.25918539del | CA448981197 | SLC17A2 | c.602del (p.Gly201AspfsTer2) c.533del (p.Gly178AspfsTer2) | COSMIC COSMIC COSMIC |
| 6 | g.25918535C>A | CA363169109 | SLC17A2 | c.601G>T (p.Gly201Ter) c.532G>T (p.Gly178Ter) | |
| 6 | g.25918535C>G | CA363169113 | SLC17A2 | c.601G>C (p.Gly201Arg) c.532G>C (p.Gly178Arg) | |
| 6 | g.25918535C>T | CA363169111 | SLC17A2 | c.601G>A (p.Gly201Arg) c.532G>A (p.Gly178Arg) | |
| 6 | g.25918536C>A | CA448981198 | SLC17A2 | c.600G>T (p.Gly200=) c.531G>T (p.Gly177=) | |
| 6 | g.25918536C= | CA1616810465 | SLC17A2 | c.600G= (p.Gly200=) c.531G= (p.Gly177=) | |
| 6 | g.25918536C>G | CA448981200 | SLC17A2 | c.600G>C (p.Gly200=) c.531G>C (p.Gly177=) | |
| 6 | g.25918536C>T | CA448981202 | SLC17A2 | c.600G>A (p.Gly200=) c.531G>A (p.Gly177=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.25918537C>A | CA363169118 | SLC17A2 | c.599G>T (p.Gly200Val) c.530G>T (p.Gly177Val) | |
| 6 | g.25918537C>G | CA363169120 | SLC17A2 | c.599G>C (p.Gly200Ala) c.530G>C (p.Gly177Ala) | |
| 6 | g.25918537C>T | CA363169122 | SLC17A2 | c.599G>A (p.Gly200Glu) c.530G>A (p.Gly177Glu) | |
| 6 | g.25918538C>A | CA363169127 | SLC17A2 | c.598G>T (p.Gly200Trp) c.529G>T (p.Gly177Trp) | |
| 6 | g.25918538C>G | CA363169139 | SLC17A2 | c.598G>C (p.Gly200Arg) c.529G>C (p.Gly177Arg) | gnomAD v4 |
| 6 | g.25918538C>T | CA363169142 | SLC17A2 | c.598G>A (p.Gly200Arg) c.529G>A (p.Gly177Arg) | COSMIC COSMIC |
| 6 | g.25918539C>A | CA448981203 | SLC17A2 | c.597G>T (p.Val199=) c.528G>T (p.Val176=) | dbSNP gnomAD v4 |
| 6 | g.25918539C= | CA1616810466 | SLC17A2 | c.597G= (p.Val199=) c.528G= (p.Val176=) | |
| 6 | g.25918539C>G | CA3663532 | SLC17A2 | c.597G>C (p.Val199=) c.528G>C (p.Val176=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.25918539C>T | CA448981204 | SLC17A2 | c.597G>A (p.Val199=) c.528G>A (p.Val176=) | dbSNP gnomAD v4 |
| 6 | g.25918540A>C | CA363169150 | SLC17A2 | c.596T>G (p.Val199Gly) c.527T>G (p.Val176Gly) | |
| 6 | g.25918540A>G | CA363169153 | SLC17A2 | c.596T>C (p.Val199Ala) c.527T>C (p.Val176Ala) | |
| 6 | g.25918540A>T | CA363169157 | SLC17A2 | c.596T>A (p.Val199Glu) c.527T>A (p.Val176Glu) | |
| 6 | g.25918540dup | CA2677596675 | SLC17A2 | c.596dup (p.Leu202ThrfsTer17) c.527dup (p.Leu179ThrfsTer17) | gnomAD v4 |
| 6 | g.25918541C>A | CA363169161 | SLC17A2 | c.595G>T (p.Val199Leu) c.526G>T (p.Val176Leu) | |
| 6 | g.25918541C= | CA1616810467 | SLC17A2 | c.595G= (p.Val199=) c.526G= (p.Val176=) | |
| 6 | g.25918541C>G | CA363169165 | SLC17A2 | c.595G>C (p.Val199Leu) c.526G>C (p.Val176Leu) | |
| 6 | g.25918541C>T | CA363169168 | SLC17A2 | c.595G>A (p.Val199Met) c.526G>A (p.Val176Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.25918542A= | CA1616810468 | SLC17A2 | c.594T= (p.Cys198=) c.525T= (p.Cys175=) | |
| 6 | g.25918542A>C | CA363169172 | SLC17A2 | c.594T>G (p.Cys198Trp) c.525T>G (p.Cys175Trp) | |
| 6 | g.25918542A>G | CA448981205 | SLC17A2 | c.594T>C (p.Cys198=) c.525T>C (p.Cys175=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.25918542A>T | CA363169176 | SLC17A2 | c.594T>A (p.Cys198Ter) c.525T>A (p.Cys175Ter) | |
| 6 | g.25918543C>A | CA363169179 | SLC17A2 | c.593G>T (p.Cys198Phe) c.524G>T (p.Cys175Phe) | |
| 6 | g.25918543C= | CA1616810469 | SLC17A2 | c.593G= (p.Cys198=) c.524G= (p.Cys175=) | |
| 6 | g.25918543C>G | CA363169181 | SLC17A2 | c.593G>C (p.Cys198Ser) c.524G>C (p.Cys175Ser) | dbSNP gnomAD v4 |
| 6 | g.25918543C>T | CA363169183 | SLC17A2 | c.593G>A (p.Cys198Tyr) c.524G>A (p.Cys175Tyr) | |
| 6 | g.25918544A>C | CA363169187 | SLC17A2 | c.592T>G (p.Cys198Gly) c.523T>G (p.Cys175Gly) | |
| 6 | g.25918544A>G | CA363169190 | SLC17A2 | c.592T>C (p.Cys198Arg) c.523T>C (p.Cys175Arg) | |
| 6 | g.25918544A>T | CA363169193 | SLC17A2 | c.592T>A (p.Cys198Ser) c.523T>A (p.Cys175Ser) | |
| 6 | g.25918545G>A | CA448981208 | SLC17A2 | c.591C>T (p.Leu197=) c.522C>T (p.Leu174=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.25918545G>C | CA448981207 | SLC17A2 | c.591C>G (p.Leu197=) c.522C>G (p.Leu174=) | |
| 6 | g.25918545G= | CA1616810470 | SLC17A2 | c.591C= (p.Leu197=) c.522C= (p.Leu174=) | |
| 6 | g.25918545G>T | CA448981206 | SLC17A2 | c.591C>A (p.Leu197=) c.522C>A (p.Leu174=) | gnomAD v4 |
| 6 | g.25918546A>C | CA363169198 | SLC17A2 | c.590T>G (p.Leu197Arg) c.521T>G (p.Leu174Arg) | |
| 6 | g.25918546A>G | CA363169201 | SLC17A2 | c.590T>C (p.Leu197Pro) c.521T>C (p.Leu174Pro) | |
| 6 | g.25918546A>T | CA363169204 | SLC17A2 | c.590T>A (p.Leu197His) c.521T>A (p.Leu174His) | |
| 6 | g.25918547G>A | CA363169208 | SLC17A2 | c.589C>T (p.Leu197Phe) c.520C>T (p.Leu174Phe) | |
| 6 | g.25918547G>C | CA363169210 | SLC17A2 | c.589C>G (p.Leu197Val) c.520C>G (p.Leu174Val) | dbSNP |
| 6 | g.25918547G= | CA1616810471 | SLC17A2 | c.589C= (p.Leu197=) c.520C= (p.Leu174=) | |
| 6 | g.25918547G>T | CA363169214 | SLC17A2 | c.589C>A (p.Leu197Ile) c.520C>A (p.Leu174Ile) | |
| 6 | g.25918548G>A | CA448981209 | SLC17A2 | c.588C>T (p.Ile196=) c.519C>T (p.Ile173=) | gnomAD v4 |
| 6 | g.25918548G>C | CA363169217 | SLC17A2 | c.588C>G (p.Ile196Met) c.519C>G (p.Ile173Met) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.25918548G= | CA1616810472 | SLC17A2 | c.588C= (p.Ile196=) c.519C= (p.Ile173=) | |
| 6 | g.25918548G>T | CA448981210 | SLC17A2 | c.588C>A (p.Ile196=) c.519C>A (p.Ile173=) | |
| 6 | g.25918549A>C | CA363169223 | SLC17A2 | c.587T>G (p.Ile196Ser) c.518T>G (p.Ile173Ser) | |
| 6 | g.25918549A>G | CA363169221 | SLC17A2 | c.587T>C (p.Ile196Thr) c.518T>C (p.Ile173Thr) | |
| 6 | g.25918549A>T | CA363169226 | SLC17A2 | c.587T>A (p.Ile196Asn) c.518T>A (p.Ile173Asn) | |
| 6 | g.25918550T>A | CA363169229 | SLC17A2 | c.586A>T (p.Ile196Phe) c.517A>T (p.Ile173Phe) | |
| 6 | g.25918550T>C | CA363169250 | SLC17A2 | c.586A>G (p.Ile196Val) c.517A>G (p.Ile173Val) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.25918550T>G | CA363169234 | SLC17A2 | c.586A>C (p.Ile196Leu) c.517A>C (p.Ile173Leu) | dbSNP |
| 6 | g.25918550T= | CA1616810473 | SLC17A2 | c.586A= (p.Ile196=) c.517A= (p.Ile173=) | |
| 6 | g.25918551G>A | CA448981211 | SLC17A2 | c.585C>T (p.Ile195=) c.516C>T (p.Ile172=) | gnomAD v4 |
| 6 | g.25918551G>C | CA363169252 | SLC17A2 | c.585C>G (p.Ile195Met) c.516C>G (p.Ile172Met) | |
| 6 | g.25918551G>T | CA448981212 | SLC17A2 | c.585C>A (p.Ile195=) c.516C>A (p.Ile172=) | |
| 6 | g.25918552A= | CA1616810474 | SLC17A2 | c.584T= (p.Ile195=) c.515T= (p.Ile172=) | |
| 6 | g.25918552A>C | CA363169253 | SLC17A2 | c.584T>G (p.Ile195Ser) c.515T>G (p.Ile172Ser) | dbSNP |
| 6 | g.25918552A>G | CA363169254 | SLC17A2 | c.584T>C (p.Ile195Thr) c.515T>C (p.Ile172Thr) | |
| 6 | g.25918552A>T | CA363169255 | SLC17A2 | c.584T>A (p.Ile195Asn) c.515T>A (p.Ile172Asn) | |
| 6 | g.25918553T>A | CA363169256 | SLC17A2 | c.583A>T (p.Ile195Phe) c.514A>T (p.Ile172Phe) | |
| 6 | g.25918553T>C | CA363169257 | SLC17A2 | c.583A>G (p.Ile195Val) c.514A>G (p.Ile172Val) | |
| 6 | g.25918553T>G | CA363169258 | SLC17A2 | c.583A>C (p.Ile195Leu) c.514A>C (p.Ile172Leu) | dbSNP |
| 6 | g.25918553T= | CA1616810475 | SLC17A2 | c.583A= (p.Ile195=) c.514A= (p.Ile172=) | |
| 6 | g.25918554G>A | CA448981214 | SLC17A2 | c.582C>T (p.Phe194=) c.513C>T (p.Phe171=) | |
| 6 | g.25918554G>C | CA363169261 | SLC17A2 | c.582C>G (p.Phe194Leu) c.513C>G (p.Phe171Leu) | |
| 6 | g.25918554G>T | CA363169267 | SLC17A2 | c.582C>A (p.Phe194Leu) c.513C>A (p.Phe171Leu) | |
| 6 | g.25918555A>C | CA363169273 | SLC17A2 | c.581T>G (p.Phe194Cys) c.512T>G (p.Phe171Cys) | |
| 6 | g.25918555A>G | CA363169276 | SLC17A2 | c.581T>C (p.Phe194Ser) c.512T>C (p.Phe171Ser) | |
| 6 | g.25918555A>T | CA363169282 | SLC17A2 | c.581T>A (p.Phe194Tyr) c.512T>A (p.Phe171Tyr) | |
| 6 | g.25918556A= | CA1616810476 | SLC17A2 | c.580T= (p.Phe194=) c.511T= (p.Phe171=) | |
| 6 | g.25918556A>C | CA3663533 | SLC17A2 | c.580T>G (p.Phe194Val) c.511T>G (p.Phe171Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.25918556A>G | CA3663534 | SLC17A2 | c.580T>C (p.Phe194Leu) c.511T>C (p.Phe171Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.25918556A>T | CA363169289 | SLC17A2 | c.580T>A (p.Phe194Ile) c.511T>A (p.Phe171Ile) | |
| 6 | g.25918557G>A | CA448981218 | SLC17A2 | c.579C>T (p.Ser193=) c.510C>T (p.Ser170=) | gnomAD v4 |
| 6 | g.25918557G>C | CA448981219 | SLC17A2 | c.579C>G (p.Ser193=) c.510C>G (p.Ser170=) | |
| 6 | g.25918557G>T | CA448981220 | SLC17A2 | c.579C>A (p.Ser193=) c.510C>A (p.Ser170=) | |
| 6 | g.25918558G>A | CA363169294 | SLC17A2 | c.578C>T (p.Ser193Phe) c.509C>T (p.Ser170Phe) | COSMIC COSMIC |
| 6 | g.25918558G>C | CA136234876 | SLC17A2 | c.578C>G (p.Ser193Cys) c.509C>G (p.Ser170Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.25918558G= | CA1616810477 | SLC17A2 | c.578C= (p.Ser193=) c.509C= (p.Ser170=) | |
| 6 | g.25918558G>T | CA363169295 | SLC17A2 | c.578C>A (p.Ser193Tyr) c.509C>A (p.Ser170Tyr) | dbSNP gnomAD v4 |
| 6 | g.25918559A>C | CA363169297 | SLC17A2 | c.577T>G (p.Ser193Ala) c.508T>G (p.Ser170Ala) | |
| 6 | g.25918559A>G | CA363169301 | SLC17A2 | c.577T>C (p.Ser193Pro) c.508T>C (p.Ser170Pro) | |
| 6 | g.25918559A>T | CA363169304 | SLC17A2 | c.577T>A (p.Ser193Thr) c.508T>A (p.Ser170Thr) | |
| 6 | g.25918560T>A | CA448981221 | SLC17A2 | c.576A>T (p.Gly192=) c.507A>T (p.Gly169=) | |
| 6 | g.25918560T>C | CA448981222 | SLC17A2 | c.576A>G (p.Gly192=) c.507A>G (p.Gly169=) | |
| 6 | g.25918560T>G | CA448981224 | SLC17A2 | c.576A>C (p.Gly192=) c.507A>C (p.Gly169=) | |
| 6 | g.25918561C>A | CA363169309 | SLC17A2 | c.575G>T (p.Gly192Val) c.506G>T (p.Gly169Val) | |
| 6 | g.25918561C= | CA1616810478 | SLC17A2 | c.575G= (p.Gly192=) c.506G= (p.Gly169=) | |
| 6 | g.25918561C>G | CA136234884 | SLC17A2 | c.575G>C (p.Gly192Ala) c.506G>C (p.Gly169Ala) | dbSNP |
| 6 | g.25918561C>T | CA363169312 | SLC17A2 | c.575G>A (p.Gly192Glu) c.506G>A (p.Gly169Glu) | |
| 6 | g.25918562C>A | CA363169318 | SLC17A2 | c.574G>T (p.Gly192Ter) c.505G>T (p.Gly169Ter) | |
| 6 | g.25918562C>G | CA363169320 | SLC17A2 | c.574G>C (p.Gly192Arg) c.505G>C (p.Gly169Arg) | |
| 6 | g.25918562C>T | CA363169325 | SLC17A2 | c.574G>A (p.Gly192Arg) c.505G>A (p.Gly169Arg) | |
| 6 | g.25918563A>C | CA363169328 | SLC17A2 | c.573T>G (p.Phe191Leu) c.504T>G (p.Phe168Leu) | |
| 6 | g.25918563A>G | CA448981226 | SLC17A2 | c.573T>C (p.Phe191=) c.504T>C (p.Phe168=) | |
| 6 | g.25918563A>T | CA363169330 | SLC17A2 | c.573T>A (p.Phe191Leu) c.504T>A (p.Phe168Leu) | |
| 6 | g.25918564A= | CA1616810479 | SLC17A2 | c.572T= (p.Phe191=) c.503T= (p.Phe168=) | |
| 6 | g.25918564A>C | CA363169334 | SLC17A2 | c.572T>G (p.Phe191Cys) c.503T>G (p.Phe168Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.25918564A>G | CA3663535 | SLC17A2 | c.572T>C (p.Phe191Ser) c.503T>C (p.Phe168Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.25918564A>T | CA363169340 | SLC17A2 | c.572T>A (p.Phe191Tyr) c.503T>A (p.Phe168Tyr) | |
| 6 | g.25918565A>C | CA363169345 | SLC17A2 | c.571T>G (p.Phe191Val) c.502T>G (p.Phe168Val) | |
| 6 | g.25918565A>G | CA363169348 | SLC17A2 | c.571T>C (p.Phe191Leu) c.502T>C (p.Phe168Leu) | |
| 6 | g.25918565A>T | CA363169351 | SLC17A2 | c.571T>A (p.Phe191Ile) c.502T>A (p.Phe168Ile) | |
| 6 | g.25918566T>A | CA448981228 | SLC17A2 | c.570A>T (p.Ala190=) c.501A>T (p.Ala167=) | |
| 6 | g.25918566T>C | CA448981231 | SLC17A2 | c.570A>G (p.Ala190=) c.501A>G (p.Ala167=) | |
| 6 | g.25918566T>G | CA448981229 | SLC17A2 | c.570A>C (p.Ala190=) c.501A>C (p.Ala167=) | |
| 6 | g.25918567G>A | CA3663536 | SLC17A2 | c.569C>T (p.Ala190Val) c.500C>T (p.Ala167Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.25918567G>C | CA363169355 | SLC17A2 | c.569C>G (p.Ala190Gly) c.500C>G (p.Ala167Gly) | |
| 6 | g.25918567G= | CA1616810480 | SLC17A2 | c.569C= (p.Ala190=) c.500C= (p.Ala167=) | |
| 6 | g.25918567G>T | CA363169356 | SLC17A2 | c.569C>A (p.Ala190Glu) c.500C>A (p.Ala167Glu) | |
| 6 | g.25918568C>A | CA363169357 | SLC17A2 | c.568G>T (p.Ala190Ser) c.499G>T (p.Ala167Ser) | gnomAD v4 |
| 6 | g.25918568C>G | CA363169358 | SLC17A2 | c.568G>C (p.Ala190Pro) c.499G>C (p.Ala167Pro) | |
| 6 | g.25918568C>T | CA363169359 | SLC17A2 | c.568G>A (p.Ala190Thr) c.499G>A (p.Ala167Thr) | gnomAD v4 |
| 6 | g.25918568_25918569insCTCCATT | CA2507486138 | SLC17A2 | c.567_568insAATGGAG (p.Ala190AsnfsTer31) c.498_499insAATGGAG (p.Ala167AsnfsTer31) | |
| 6 | g.25918569T>A | CA448981234 | SLC17A2 | c.567A>T (p.Ser189=) c.498A>T (p.Ser166=) | |
| 6 | g.25918569T>C | CA448981236 | SLC17A2 | c.567A>G (p.Ser189=) c.498A>G (p.Ser166=) | |
| 6 | g.25918569T>G | CA448981238 | SLC17A2 | c.567A>C (p.Ser189=) c.498A>C (p.Ser166=) | |
| 6 | g.25918570G>A | CA363169376 | SLC17A2 | c.566C>T (p.Ser189Leu) c.497C>T (p.Ser166Leu) | dbSNP gnomAD v4 |
| 6 | g.25918570G>C | CA363169375 | SLC17A2 | c.566C>G (p.Ser189Ter) c.497C>G (p.Ser166Ter) | COSMIC COSMIC |
| 6 | g.25918570G= | CA1616810481 | SLC17A2 | c.566C= (p.Ser189=) c.497C= (p.Ser166=) | |
| 6 | g.25918570G>T | CA363169369 | SLC17A2 | c.566C>A (p.Ser189Ter) c.497C>A (p.Ser166Ter) | gnomAD v4 |
| 6 | g.25918571A>C | CA363169379 | SLC17A2 | c.565T>G (p.Ser189Ala) c.496T>G (p.Ser166Ala) | |
| 6 | g.25918571A>G | CA363169381 | SLC17A2 | c.565T>C (p.Ser189Pro) c.496T>C (p.Ser166Pro) | |
| 6 | g.25918571A>T | CA363169382 | SLC17A2 | c.565T>A (p.Ser189Thr) c.496T>A (p.Ser166Thr) | |
| 6 | g.25918572C>A | CA448981240 | SLC17A2 | c.564G>T (p.Gly188=) c.495G>T (p.Gly165=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.25918572C= | CA1616810482 | SLC17A2 | c.564G= (p.Gly188=) c.495G= (p.Gly165=) | |
| 6 | g.25918572C>G | CA448981241 | SLC17A2 | c.564G>C (p.Gly188=) c.495G>C (p.Gly165=) | |
| 6 | g.25918572C>T | CA448981242 | SLC17A2 | c.564G>A (p.Gly188=) c.495G>A (p.Gly165=) | gnomAD v4 |
| 6 | g.25918572_25918575del | CA2677596676 | SLC17A2 | c.563-2_564del c.494-2_495del | gnomAD v4 |
| 6 | g.25918573C>A | CA363169385 | SLC17A2 | c.563G>T (p.Gly188Val) c.494G>T (p.Gly165Val) | dbSNP |
| 6 | g.25918573C= | CA1616810483 | SLC17A2 | c.563G= (p.Gly188=) c.494G= (p.Gly165=) | |
| 6 | g.25918573C>G | CA363169386 | SLC17A2 | c.563G>C (p.Gly188Ala) c.494G>C (p.Gly165Ala) | |
| 6 | g.25918573C>T | CA363169387 | SLC17A2 | c.563G>A (p.Gly188Glu) c.494G>A (p.Gly165Glu) | gnomAD v4 |
| 6 | g.25918574C>A | CA363169389 | SLC17A2 | c.563-1G>T (n.563-1G>T) c.494-1G>T (n.494-1G>T) | |
| 6 | g.25918574C>G | CA363169390 | SLC17A2 | c.563-1G>C (n.563-1G>C) c.494-1G>C (n.494-1G>C) | |
| 6 | g.25918574C>T | CA363169392 | SLC17A2 | c.563-1G>A (n.563-1G>A) c.494-1G>A (n.494-1G>A) | |
| 6 | g.25918575T>A | CA363169393 | SLC17A2 | c.563-2A>T (n.563-2A>T) c.494-2A>T (n.494-2A>T) | |
| 6 | g.25918575T>C | CA363169395 | SLC17A2 | c.563-2A>G (n.563-2A>G) c.494-2A>G (n.494-2A>G) | |
| 6 | g.25918575T>G | CA363169401 | SLC17A2 | c.563-2A>C (n.563-2A>C) c.494-2A>C (n.494-2A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.25918575T= | CA1616810484 | SLC17A2 | c.563-2A= (n.563-2A=) c.494-2A= (n.494-2A=) | |
| 6 | g.25918578A= | CA1616810485 | SLC17A2 | c.563-5T= (n.563-5T=) c.494-5T= (n.494-5T=) | |
| 6 | g.25918578A>G | CA1616810486 | SLC17A2 | c.563-5T>C (n.563-5T>C) c.494-5T>C (n.494-5T>C) | dbSNP |
| 6 | g.25918579G>C | CA823427598 | SLC17A2 | c.563-6C>G (n.563-6C>G) c.494-6C>G (n.494-6C>G) | dbSNP |
| 6 | g.25918579G= | CA1616810487 | SLC17A2 | c.563-6C= (n.563-6C=) c.494-6C= (n.494-6C=) | |
| 6 | g.25918579_25918580del | CA2677596677 | SLC17A2 | c.563-7_563-6del (n.563-7_563-6del) c.494-7_494-6del (n.494-7_494-6del) | gnomAD v4 |
| 6 | g.25918580G>A | CA3663537 | SLC17A2 | c.563-7C>T (n.563-7C>T) c.494-7C>T (n.494-7C>T) | dbSNP ExAC |
| 6 | g.25918580G= | CA1616810488 | SLC17A2 | c.563-7C= (n.563-7C=) c.494-7C= (n.494-7C=) | |
| 6 | g.25918581A>G | CA2677596678 | SLC17A2 | c.563-8T>C (n.563-8T>C) c.494-8T>C (n.494-8T>C) | gnomAD v4 |
| 6 | g.25918585del | CA2578548293 | SLC17A2 | c.563-8del (n.563-8del) c.494-8del (n.494-8del) | gnomAD v4 |
| 6 | g.25918582A= | CA1616810489 | SLC17A2 | c.563-9T= (n.563-9T=) c.494-9T= (n.494-9T=) | |
| 6 | g.25918582A>C | CA565959724 | SLC17A2 | c.563-9T>G (n.563-9T>G) c.494-9T>G (n.494-9T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.25918585A>G | CA2677596679 | SLC17A2 | c.563-12T>C (n.563-12T>C) c.494-12T>C (n.494-12T>C) | gnomAD v4 |
| 6 | g.25918585_25918586insCCAAACACACCCAACACA | CA2770365136 | SLC17A2 | c.563-12_563-11insGTGTTGGGTGTGTTTGGT (n.563-12_563-11insGTGTTGGGTGTGTTTGGT) c.494-12_494-11insGTGTTGGGTGTGTTTGGT (n.494-12_494-11insGTGTTGGGTGTGTTTGGT) | |
| 6 | g.25918586G>A | CA2677596680 | SLC17A2 | c.563-13C>T (n.563-13C>T) c.494-13C>T (n.494-13C>T) | gnomAD v4 |
| 6 | g.25918586G>C | CA2677596681 | SLC17A2 | c.563-13C>G (n.563-13C>G) c.494-13C>G (n.494-13C>G) | gnomAD v4 |
| 6 | g.25918586G>T | CA2578548294 | SLC17A2 | c.563-13C>A (n.563-13C>A) c.494-13C>A (n.494-13C>A) | gnomAD v4 |
| 6 | g.25918587G>A | CA1087052684 | SLC17A2 | c.563-14C>T (n.563-14C>T) c.494-14C>T (n.494-14C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.25918587G= | CA1616810490 | SLC17A2 | c.563-14C= (n.563-14C=) c.494-14C= (n.494-14C=) | |
| 6 | g.25918588G>A | CA565959725 | SLC17A2 | c.563-15C>T (n.563-15C>T) c.494-15C>T (n.494-15C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.25918588G= | CA1616810491 | SLC17A2 | c.563-15C= (n.563-15C=) c.494-15C= (n.494-15C=) | |
| 6 | g.25918588G>T | CA2677596682 | SLC17A2 | c.563-15C>A (n.563-15C>A) c.494-15C>A (n.494-15C>A) | gnomAD v4 |
| 6 | g.25918589A= | CA1616810492 | SLC17A2 | c.563-16T= (n.563-16T=) c.494-16T= (n.494-16T=) | |
| 6 | g.25918590G>A | CA2770365137 | SLC17A2 | c.563-17C>T (n.563-17C>T) c.494-17C>T (n.494-17C>T) | |
| 6 | g.25918590G>C | CA2677596683 | SLC17A2 | c.563-17C>G (n.563-17C>G) c.494-17C>G (n.494-17C>G) | gnomAD v4 |
| 6 | g.25918590G= | CA1616810493 | SLC17A2 | c.563-17C= (n.563-17C=) c.494-17C= (n.494-17C=) | |
| 6 | g.25918590G>T | CA1616810494 | SLC17A2 | c.563-17C>A (n.563-17C>A) c.494-17C>A (n.494-17C>A) | dbSNP gnomAD v4 |
| 6 | g.25918590dup | CA3663538 | SLC17A2 | c.563-17dup (n.563-17dup) c.494-17dup (n.494-17dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.25918591A>G | CA2677596685 | SLC17A2 | c.563-18T>C (n.563-18T>C) c.494-18T>C (n.494-18T>C) | gnomAD v4 |
| 6 | g.25918595dup | CA2770365138 | SLC17A2 | c.563-18dup (n.563-18dup) c.494-18dup (n.494-18dup) | |
| 6 | g.25918595del | CA2677596684 | SLC17A2 | c.563-18del (n.563-18del) c.494-18del (n.494-18del) | gnomAD v4 |
| 6 | g.25918595A= | CA1616810495 | SLC17A2 | c.563-22T= (n.563-22T=) c.494-22T= (n.494-22T=) | |
| 6 | g.25918595A>G | CA3663539 | SLC17A2 | c.563-22T>C (n.563-22T>C) c.494-22T>C (n.494-22T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.25918596C= | CA1616810496 | SLC17A2 | c.563-23G= (n.563-23G=) c.494-23G= (n.494-23G=) | |
| 6 | g.25918596C>T | CA823427620 | SLC17A2 | c.563-23G>A (n.563-23G>A) c.494-23G>A (n.494-23G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.25918597A= | CA1616810497 | SLC17A2 | c.563-24T= (n.563-24T=) c.494-24T= (n.494-24T=) | |
| 6 | g.25918597A>C | CA565959726 | SLC17A2 | c.563-24T>G (n.563-24T>G) c.494-24T>G (n.494-24T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.25918597A>T | CA2677596686 | SLC17A2 | c.563-24T>A (n.563-24T>A) c.494-24T>A (n.494-24T>A) | gnomAD v4 |
| 6 | g.25918598C= | CA1616810498 | SLC17A2 | c.563-25G= (n.563-25G=) c.494-25G= (n.494-25G=) | |
| 6 | g.25918598C>T | CA3663540 | SLC17A2 | c.563-25G>A (n.563-25G>A) c.494-25G>A (n.494-25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.25918599T>A | CA2677596687 | SLC17A2 | c.563-26A>T (n.563-26A>T) c.494-26A>T (n.494-26A>T) | gnomAD v4 |
| 6 | g.25918599T>C | CA2677596688 | SLC17A2 | c.563-26A>G (n.563-26A>G) c.494-26A>G (n.494-26A>G) | gnomAD v4 |
| 6 | g.25918600del | CA2578548295 | SLC17A2 | c.563-26del (n.563-26del) c.494-26del (n.494-26del) | |
| 6 | g.25918602T>C | CA3663541 | SLC17A2 | c.563-29A>G (n.563-29A>G) c.494-29A>G (n.494-29A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.25918602T= | CA1616810499 | SLC17A2 | c.563-29A= (n.563-29A=) c.494-29A= (n.494-29A=) | |
| 6 | g.25918603G>A | CA823427629 | SLC17A2 | c.563-30C>T (n.563-30C>T) c.494-30C>T (n.494-30C>T) | dbSNP |
| 6 | g.25918603G= | CA1616810500 | SLC17A2 | c.563-30C= (n.563-30C=) c.494-30C= (n.494-30C=) | |
| 6 | g.25918603G>T | CA2677596689 | SLC17A2 | c.563-30C>A (n.563-30C>A) c.494-30C>A (n.494-30C>A) | gnomAD v4 |
| 6 | g.25918608T>C | CA565959727 | SLC17A2 | c.563-35A>G (n.563-35A>G) c.494-35A>G (n.494-35A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.25918608T= | CA1616810501 | SLC17A2 | c.563-35A= (n.563-35A=) c.494-35A= (n.494-35A=) | |
| 6 | g.25918610T>C | CA1616810503 | SLC17A2 | c.563-37A>G (n.563-37A>G) c.494-37A>G (n.494-37A>G) | dbSNP |
| 6 | g.25918610T= | CA1616810502 | SLC17A2 | c.563-37A= (n.563-37A=) c.494-37A= (n.494-37A=) | |
| 6 | g.25918611C>A | CA2677596690 | SLC17A2 | c.563-38G>T (n.563-38G>T) c.494-38G>T (n.494-38G>T) | dbSNP gnomAD v4 |
| 6 | g.25918611C>T | CA2677596691 | SLC17A2 | c.563-38G>A (n.563-38G>A) c.494-38G>A (n.494-38G>A) | gnomAD v4 |
| 6 | g.25918612A= | CA1616810504 | SLC17A2 | c.563-39T= (n.563-39T=) c.494-39T= (n.494-39T=) | |
| 6 | g.25918612A>G | CA565959728 | SLC17A2 | c.563-39T>C (n.563-39T>C) c.494-39T>C (n.494-39T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.25918612A>T | CA2711165313 | SLC17A2 | c.563-39T>A (n.563-39T>A) c.494-39T>A (n.494-39T>A) | dbSNP |
| 6 | g.25918615_25918618delinsGGCT | CA1616810505 | SLC17A2 | c.563-45_563-42delinsAGCC (n.563-45_563-42delinsAGCC) c.494-45_494-42delinsAGCC (n.494-45_494-42delinsAGCC) | |
| 6 | g.25918616G>A | CA3663542 | SLC17A2 | c.563-43C>T (n.563-43C>T) c.494-43C>T (n.494-43C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.25918616G= | CA1616810507 | SLC17A2 | c.563-43C= (n.563-43C=) c.494-43C= (n.494-43C=) | |
| 6 | g.25918616G>T | CA2677596692 | SLC17A2 | c.563-43C>A (n.563-43C>A) c.494-43C>A (n.494-43C>A) | gnomAD v4 |
| 6 | g.25918617_25918619del | CA1616810506 | SLC17A2 | c.563-45_563-43del (n.563-45_563-43del) c.494-45_494-43del (n.494-45_494-43del) | dbSNP |
| 6 | g.25918617C>A | CA2677596693 | SLC17A2 | c.563-44G>T (n.563-44G>T) c.494-44G>T (n.494-44G>T) | gnomAD v4 |
| 6 | g.25918618T>C | CA2770365139 | SLC17A2 | c.563-45A>G (n.563-45A>G) c.494-45A>G (n.494-45A>G) | |
| 6 | g.25918618T>G | CA1616810509 | SLC17A2 | c.563-45A>C (n.563-45A>C) c.494-45A>C (n.494-45A>C) | dbSNP gnomAD v4 |
| 6 | g.25918618T= | CA1616810508 | SLC17A2 | c.563-45A= (n.563-45A=) c.494-45A= (n.494-45A=) | |
| 6 | g.25918619G>A | CA1087052689 | SLC17A2 | c.563-46C>T (n.563-46C>T) c.494-46C>T (n.494-46C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.25918619G= | CA1616810510 | SLC17A2 | c.563-46C= (n.563-46C=) c.494-46C= (n.494-46C=) | |
| 6 | g.25918619G>T | CA3663543 | SLC17A2 | c.563-46C>A (n.563-46C>A) c.494-46C>A (n.494-46C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.25918621G>A | CA2677596694 | SLC17A2 | c.563-48C>T (n.563-48C>T) c.494-48C>T (n.494-48C>T) | gnomAD v4 |
| 6 | g.25918621G>C | CA2677596695 | SLC17A2 | c.563-48C>G (n.563-48C>G) c.494-48C>G (n.494-48C>G) | gnomAD v4 |
| 6 | g.25918622A>T | CA2593892799 | SLC17A2 | c.563-49T>A (n.563-49T>A) c.494-49T>A (n.494-49T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.25918623C>T | CA2578548296 | SLC17A2 | c.563-50G>A (n.563-50G>A) c.494-50G>A (n.494-50G>A) | gnomAD v4 |
| 6 | g.25918624T>C | CA565959729 | SLC17A2 | c.563-51A>G (n.563-51A>G) c.494-51A>G (n.494-51A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.25918624T>G | CA1087052699 | SLC17A2 | c.563-51A>C (n.563-51A>C) c.494-51A>C (n.494-51A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.25918624T= | CA1616810511 | SLC17A2 | c.563-51A= (n.563-51A=) c.494-51A= (n.494-51A=) | |
| 6 | g.25918625T>C | CA136234962 | SLC17A2 | c.563-52A>G (n.563-52A>G) c.494-52A>G (n.494-52A>G) | dbSNP |
| 6 | g.25918625T= | CA1616810512 | SLC17A2 | c.563-52A= (n.563-52A=) c.494-52A= (n.494-52A=) | |
| 6 | g.25918626C>A | CA136234978 | SLC17A2 | c.563-53G>T (n.563-53G>T) c.494-53G>T (n.494-53G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.25918626C= | CA1616810513 | SLC17A2 | c.563-53G= (n.563-53G=) c.494-53G= (n.494-53G=) | |
| 6 | g.25918626C>T | CA136234968 | SLC17A2 | c.563-53G>A (n.563-53G>A) c.494-53G>A (n.494-53G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.25918626_25918627insATCATCCTCTGT | CA2508686132 | SLC17A2 | c.563-54_563-53insACAGAGGATGAT (n.563-54_563-53insACAGAGGATGAT) c.494-54_494-53insACAGAGGATGAT (n.494-54_494-53insACAGAGGATGAT) | |
| 6 | g.25918627G>A | CA136234982 | SLC17A2 | c.563-54C>T (n.563-54C>T) c.494-54C>T (n.494-54C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.25918627G>C | CA2581550154 | SLC17A2 | c.563-54C>G (n.563-54C>G) c.494-54C>G (n.494-54C>G) | |
| 6 | g.25918627G= | CA1616810514 | SLC17A2 | c.563-54C= (n.563-54C=) c.494-54C= (n.494-54C=) | |
| 6 | g.25918627G>T | CA2578548297 | SLC17A2 | c.563-54C>A (n.563-54C>A) c.494-54C>A (n.494-54C>A) | |
| 6 | g.25918629G>A | CA2677596696 | SLC17A2 | c.563-56C>T (n.563-56C>T) c.494-56C>T (n.494-56C>T) | gnomAD v4 |
| 6 | g.25918629G>T | CA2578548298 | SLC17A2 | c.563-56C>A (n.563-56C>A) c.494-56C>A (n.494-56C>A) | gnomAD v4 |
| 6 | g.25918630G>C | CA2578548299 | SLC17A2 | c.563-57C>G (n.563-57C>G) c.494-57C>G (n.494-57C>G) | |
| 6 | g.25918630G>T | CA2578548300 | SLC17A2 | c.563-57C>A (n.563-57C>A) c.494-57C>A (n.494-57C>A) | gnomAD v4 |