OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.73638412C>A | CA364716699 | SLC17A5 | c.613G>T (p.Gly205Ter) n.379G>T c.562G>T (p.Gly188Ter) c.415G>T (p.Gly139Ter) c.382G>T (p.Gly128Ter) c.634G>T (p.Gly212Ter) c.613G>T (p.Gly205Cys) c.613G>T (p.Ala205Ser) c.382G>T (p.Gly128Cys) | |
| 6 | g.73638412C>G | CA364716698 | SLC17A5 | c.613G>C (p.Gly205Arg) n.379G>C c.562G>C (p.Gly188Arg) c.415G>C (p.Gly139Arg) c.382G>C (p.Gly128Arg) c.634G>C (p.Gly212Arg) c.613G>C (p.Ala205Pro) | |
| 6 | g.73638412C>T | CA364716697 | SLC17A5 | c.613G>A (p.Gly205Arg) n.379G>A c.562G>A (p.Gly188Arg) c.415G>A (p.Gly139Arg) c.382G>A (p.Gly128Arg) c.634G>A (p.Gly212Arg) c.613G>A (p.Gly205Ser) c.613G>A (p.Ala205Thr) c.382G>A (p.Gly128Ser) | gnomAD v4 |
| 6 | g.73638413T>A | CA450912005 | SLC17A5 | c.612A>T (p.Ala204=) n.378A>T c.561A>T (p.Ala187=) c.414A>T (p.Ala138=) c.381A>T (p.Ala127=) c.633A>T (p.Ala211=) | |
| 6 | g.73638413T>C | CA450912006 | SLC17A5 | c.612A>G (p.Ala204=) n.378A>G c.561A>G (p.Ala187=) c.414A>G (p.Ala138=) c.381A>G (p.Ala127=) c.633A>G (p.Ala211=) | |
| 6 | g.73638413T>G | CA450912007 | SLC17A5 | c.612A>C (p.Ala204=) n.378A>C c.561A>C (p.Ala187=) c.414A>C (p.Ala138=) c.381A>C (p.Ala127=) c.633A>C (p.Ala211=) | |
| 6 | g.73638414G>A | CA364716700 | SLC17A5 | c.611C>T (p.Ala204Val) n.377C>T c.560C>T (p.Ala187Val) c.413C>T (p.Ala138Val) c.380C>T (p.Ala127Val) c.632C>T (p.Ala211Val) | |
| 6 | g.73638414G>C | CA364716701 | SLC17A5 | c.611C>G (p.Ala204Gly) n.377C>G c.560C>G (p.Ala187Gly) c.413C>G (p.Ala138Gly) c.380C>G (p.Ala127Gly) c.632C>G (p.Ala211Gly) | |
| 6 | g.73638414G>T | CA364716702 | SLC17A5 | c.611C>A (p.Ala204Glu) n.377C>A c.560C>A (p.Ala187Glu) c.413C>A (p.Ala138Glu) c.380C>A (p.Ala127Glu) c.632C>A (p.Ala211Glu) | gnomAD v4 |
| 6 | g.73638415C>A | CA364716703 | SLC17A5 | c.610G>T (p.Ala204Ser) n.376G>T c.559G>T (p.Ala187Ser) c.412G>T (p.Ala138Ser) c.379G>T (p.Ala127Ser) c.631G>T (p.Ala211Ser) | |
| 6 | g.73638415C>G | CA364716704 | SLC17A5 | c.610G>C (p.Ala204Pro) n.376G>C c.559G>C (p.Ala187Pro) c.412G>C (p.Ala138Pro) c.379G>C (p.Ala127Pro) c.631G>C (p.Ala211Pro) | |
| 6 | g.73638415C>T | CA364716705 | SLC17A5 | c.610G>A (p.Ala204Thr) n.376G>A c.559G>A (p.Ala187Thr) c.412G>A (p.Ala138Thr) c.379G>A (p.Ala127Thr) c.631G>A (p.Ala211Thr) | |
| 6 | g.73638416A= | CA1638220373 | SLC17A5 | c.609T= (p.Tyr203=) n.375T= c.558T= (p.Tyr186=) c.411T= (p.Tyr137=) c.378T= (p.Tyr126=) c.630T= (p.Tyr210=) | |
| 6 | g.73638416A>C | CA364716706 | SLC17A5 | c.609T>G (p.Tyr203Ter) n.375T>G c.558T>G (p.Tyr186Ter) c.411T>G (p.Tyr137Ter) c.378T>G (p.Tyr126Ter) c.630T>G (p.Tyr210Ter) | |
| 6 | g.73638416A>G | CA3890494 | SLC17A5 | c.609T>C (p.Tyr203=) n.375T>C c.558T>C (p.Tyr186=) c.411T>C (p.Tyr137=) c.378T>C (p.Tyr126=) c.630T>C (p.Tyr210=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73638416A>T | CA364716707 | SLC17A5 | c.609T>A (p.Tyr203Ter) n.375T>A c.558T>A (p.Tyr186Ter) c.411T>A (p.Tyr137Ter) c.378T>A (p.Tyr126Ter) c.630T>A (p.Tyr210Ter) | |
| 6 | g.73638416dup | CA2695198281 | SLC17A5 | c.609dup (p.Ala204CysfsTer?) n.375dup c.558dup (p.Ala187CysfsTer?) c.411dup (p.Ala138CysfsTer?) c.378dup (p.Ala127CysfsTer?) c.630dup (p.Ala211CysfsTer?) c.609dup (p.Ala204CysfsTer17) c.378dup (p.Ala127CysfsTer17) | ClinVar |
| 6 | g.73638417T>A | CA364716708 | SLC17A5 | c.608A>T (p.Tyr203Phe) n.374A>T c.557A>T (p.Tyr186Phe) c.410A>T (p.Tyr137Phe) c.377A>T (p.Tyr126Phe) c.629A>T (p.Tyr210Phe) | |
| 6 | g.73638417T>C | CA364716709 | SLC17A5 | c.608A>G (p.Tyr203Cys) n.374A>G c.557A>G (p.Tyr186Cys) c.410A>G (p.Tyr137Cys) c.377A>G (p.Tyr126Cys) c.629A>G (p.Tyr210Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73638417T>G | CA364716710 | SLC17A5 | c.608A>C (p.Tyr203Ser) n.374A>C c.557A>C (p.Tyr186Ser) c.410A>C (p.Tyr137Ser) c.377A>C (p.Tyr126Ser) c.629A>C (p.Tyr210Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73638417T= | CA1638220377 | SLC17A5 | c.608A= (p.Tyr203=) n.374A= c.557A= (p.Tyr186=) c.410A= (p.Tyr137=) c.377A= (p.Tyr126=) c.629A= (p.Tyr210=) | |
| 6 | g.73638418A= | CA1638220382 | SLC17A5 | c.607T= (p.Tyr203=) n.373T= c.556T= (p.Tyr186=) c.409T= (p.Tyr137=) c.376T= (p.Tyr126=) c.628T= (p.Tyr210=) | |
| 6 | g.73638418A>C | CA364716713 | SLC17A5 | c.607T>G (p.Tyr203Asp) n.373T>G c.556T>G (p.Tyr186Asp) c.409T>G (p.Tyr137Asp) c.376T>G (p.Tyr126Asp) c.628T>G (p.Tyr210Asp) | dbSNP gnomAD v4 |
| 6 | g.73638418A>G | CA364716712 | SLC17A5 | c.607T>C (p.Tyr203His) n.373T>C c.556T>C (p.Tyr186His) c.409T>C (p.Tyr137His) c.376T>C (p.Tyr126His) c.628T>C (p.Tyr210His) | |
| 6 | g.73638418A>T | CA364716711 | SLC17A5 | c.607T>A (p.Tyr203Asn) n.373T>A c.556T>A (p.Tyr186Asn) c.409T>A (p.Tyr137Asn) c.376T>A (p.Tyr126Asn) c.628T>A (p.Tyr210Asn) | |
| 6 | g.73638419T>A | CA450912008 | SLC17A5 | c.606A>T (p.Ser202=) n.372A>T c.555A>T (p.Ser185=) c.408A>T (p.Ser136=) c.375A>T (p.Ser125=) c.627A>T (p.Ser209=) | ClinVar |
| 6 | g.73638419T>C | CA3890495 | SLC17A5 | c.606A>G (p.Ser202=) n.372A>G c.555A>G (p.Ser185=) c.408A>G (p.Ser136=) c.375A>G (p.Ser125=) c.627A>G (p.Ser209=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73638419T>G | CA450912009 | SLC17A5 | c.606A>C (p.Ser202=) n.372A>C c.555A>C (p.Ser185=) c.408A>C (p.Ser136=) c.375A>C (p.Ser125=) c.627A>C (p.Ser209=) | |
| 6 | g.73638419T= | CA1638220389 | SLC17A5 | c.606A= (p.Ser202=) n.372A= c.555A= (p.Ser185=) c.408A= (p.Ser136=) c.375A= (p.Ser125=) c.627A= (p.Ser209=) | |
| 6 | g.73638420G>A | CA364716716 | SLC17A5 | c.605C>T (p.Ser202Leu) n.371C>T c.554C>T (p.Ser185Leu) c.407C>T (p.Ser136Leu) c.374C>T (p.Ser125Leu) c.626C>T (p.Ser209Leu) | |
| 6 | g.73638420G>C | CA364716714 | SLC17A5 | c.605C>G (p.Ser202Ter) n.371C>G c.554C>G (p.Ser185Ter) c.407C>G (p.Ser136Ter) c.374C>G (p.Ser125Ter) c.626C>G (p.Ser209Ter) | |
| 6 | g.73638420G>T | CA364716715 | SLC17A5 | c.605C>A (p.Ser202Ter) n.371C>A c.554C>A (p.Ser185Ter) c.407C>A (p.Ser136Ter) c.374C>A (p.Ser125Ter) c.626C>A (p.Ser209Ter) | |
| 6 | g.73638421A>C | CA364716717 | SLC17A5 | c.604T>G (p.Ser202Ala) n.370T>G c.553T>G (p.Ser185Ala) c.406T>G (p.Ser136Ala) c.373T>G (p.Ser125Ala) c.625T>G (p.Ser209Ala) | |
| 6 | g.73638421A>G | CA364716718 | SLC17A5 | c.604T>C (p.Ser202Pro) n.370T>C c.553T>C (p.Ser185Pro) c.406T>C (p.Ser136Pro) c.373T>C (p.Ser125Pro) c.625T>C (p.Ser209Pro) | |
| 6 | g.73638421A>T | CA364716719 | SLC17A5 | c.604T>A (p.Ser202Thr) n.370T>A c.553T>A (p.Ser185Thr) c.406T>A (p.Ser136Thr) c.373T>A (p.Ser125Thr) c.625T>A (p.Ser209Thr) | |
| 6 | g.73638422A>C | CA364716720 | SLC17A5 | c.603T>G (p.Ile201Met) n.369T>G c.552T>G (p.Ile184Met) c.405T>G (p.Ile135Met) c.372T>G (p.Ile124Met) c.624T>G (p.Ile208Met) | |
| 6 | g.73638422A>G | CA450912010 | SLC17A5 | c.603T>C (p.Ile201=) n.369T>C c.552T>C (p.Ile184=) c.405T>C (p.Ile135=) c.372T>C (p.Ile124=) c.624T>C (p.Ile208=) | |
| 6 | g.73638422A>T | CA450912011 | SLC17A5 | c.603T>A (p.Ile201=) n.369T>A c.552T>A (p.Ile184=) c.405T>A (p.Ile135=) c.372T>A (p.Ile124=) c.624T>A (p.Ile208=) | |
| 6 | g.73638423A= | CA1638220392 | SLC17A5 | c.602T= (p.Ile201=) n.368T= c.551T= (p.Ile184=) c.404T= (p.Ile135=) c.371T= (p.Ile124=) c.623T= (p.Ile208=) | |
| 6 | g.73638423A>C | CA364716723 | SLC17A5 | c.602T>G (p.Ile201Ser) n.368T>G c.551T>G (p.Ile184Ser) c.404T>G (p.Ile135Ser) c.371T>G (p.Ile124Ser) c.623T>G (p.Ile208Ser) | |
| 6 | g.73638423A>G | CA364716721 | SLC17A5 | c.602T>C (p.Ile201Thr) n.368T>C c.551T>C (p.Ile184Thr) c.404T>C (p.Ile135Thr) c.371T>C (p.Ile124Thr) c.623T>C (p.Ile208Thr) | dbSNP |
| 6 | g.73638423A>T | CA364716722 | SLC17A5 | c.602T>A (p.Ile201Asn) n.368T>A c.551T>A (p.Ile184Asn) c.404T>A (p.Ile135Asn) c.371T>A (p.Ile124Asn) c.623T>A (p.Ile208Asn) | |
| 6 | g.73638424T>A | CA364716724 | SLC17A5 | c.601A>T (p.Ile201Phe) n.367A>T c.550A>T (p.Ile184Phe) c.403A>T (p.Ile135Phe) c.370A>T (p.Ile124Phe) c.622A>T (p.Ile208Phe) | |
| 6 | g.73638424T>C | CA3890496 | SLC17A5 | c.601A>G (p.Ile201Val) n.367A>G c.550A>G (p.Ile184Val) c.403A>G (p.Ile135Val) c.370A>G (p.Ile124Val) c.622A>G (p.Ile208Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73638424T>G | CA364716725 | SLC17A5 | c.601A>C (p.Ile201Leu) n.367A>C c.550A>C (p.Ile184Leu) c.403A>C (p.Ile135Leu) c.370A>C (p.Ile124Leu) c.622A>C (p.Ile208Leu) | |
| 6 | g.73638424T= | CA1638220395 | SLC17A5 | c.601A= (p.Ile201=) n.367A= c.550A= (p.Ile184=) c.403A= (p.Ile135=) c.370A= (p.Ile124=) c.622A= (p.Ile208=) | |
| 6 | g.73638425G>A | CA450912012 | SLC17A5 | c.600C>T (p.Ser200=) n.366C>T c.549C>T (p.Ser183=) c.402C>T (p.Ser134=) c.369C>T (p.Ser123=) c.621C>T (p.Ser207=) | ClinVar dbSNP |
| 6 | g.73638425G>C | CA364716726 | SLC17A5 | c.600C>G (p.Ser200Arg) n.366C>G c.549C>G (p.Ser183Arg) c.402C>G (p.Ser134Arg) c.369C>G (p.Ser123Arg) c.621C>G (p.Ser207Arg) | gnomAD v4 |
| 6 | g.73638425G>T | CA364716727 | SLC17A5 | c.600C>A (p.Ser200Arg) n.366C>A c.549C>A (p.Ser183Arg) c.402C>A (p.Ser134Arg) c.369C>A (p.Ser123Arg) c.621C>A (p.Ser207Arg) | gnomAD v4 |
| 6 | g.73638426C>A | CA364716728 | SLC17A5 | c.599G>T (p.Ser200Ile) n.365G>T c.548G>T (p.Ser183Ile) c.401G>T (p.Ser134Ile) c.368G>T (p.Ser123Ile) c.620G>T (p.Ser207Ile) | |
| 6 | g.73638426C>G | CA364716730 | SLC17A5 | c.599G>C (p.Ser200Thr) n.365G>C c.548G>C (p.Ser183Thr) c.401G>C (p.Ser134Thr) c.368G>C (p.Ser123Thr) c.620G>C (p.Ser207Thr) | gnomAD v4 |
| 6 | g.73638426C>T | CA364716729 | SLC17A5 | c.599G>A (p.Ser200Asn) n.365G>A c.548G>A (p.Ser183Asn) c.401G>A (p.Ser134Asn) c.368G>A (p.Ser123Asn) c.620G>A (p.Ser207Asn) | |
| 6 | g.73638427T>A | CA364716731 | SLC17A5 | c.598A>T (p.Ser200Cys) n.364A>T c.547A>T (p.Ser183Cys) c.400A>T (p.Ser134Cys) c.367A>T (p.Ser123Cys) c.619A>T (p.Ser207Cys) | |
| 6 | g.73638427T>C | CA364716732 | SLC17A5 | c.598A>G (p.Ser200Gly) n.364A>G c.547A>G (p.Ser183Gly) c.400A>G (p.Ser134Gly) c.367A>G (p.Ser123Gly) c.619A>G (p.Ser207Gly) | |
| 6 | g.73638427T>G | CA364716733 | SLC17A5 | c.598A>C (p.Ser200Arg) n.364A>C c.547A>C (p.Ser183Arg) c.400A>C (p.Ser134Arg) c.367A>C (p.Ser123Arg) c.619A>C (p.Ser207Arg) | |
| 6 | g.73638428A>C | CA450912013 | SLC17A5 | c.597T>G (p.Leu199=) n.363T>G c.546T>G (p.Leu182=) c.399T>G (p.Leu133=) c.366T>G (p.Leu122=) c.618T>G (p.Leu206=) | |
| 6 | g.73638428A>G | CA450912014 | SLC17A5 | c.597T>C (p.Leu199=) n.363T>C c.546T>C (p.Leu182=) c.399T>C (p.Leu133=) c.366T>C (p.Leu122=) c.618T>C (p.Leu206=) | |
| 6 | g.73638428A>T | CA450912015 | SLC17A5 | c.597T>A (p.Leu199=) n.363T>A c.546T>A (p.Leu182=) c.399T>A (p.Leu133=) c.366T>A (p.Leu122=) c.618T>A (p.Leu206=) | |
| 6 | g.73638431_73638433del | CA645566859 | SLC17A5 | c.595_597del (p.Leu199del) n.361_363del c.544_546del (p.Leu182del) c.397_399del (p.Leu133del) c.364_366del (p.Leu122del) c.616_618del (p.Leu206del) | COSMIC |
| 6 | g.73638429A>C | CA364716734 | SLC17A5 | c.596T>G (p.Leu199Arg) n.362T>G c.545T>G (p.Leu182Arg) c.398T>G (p.Leu133Arg) c.365T>G (p.Leu122Arg) c.617T>G (p.Leu206Arg) | |
| 6 | g.73638429A>G | CA364716735 | SLC17A5 | c.596T>C (p.Leu199Pro) n.362T>C c.545T>C (p.Leu182Pro) c.398T>C (p.Leu133Pro) c.365T>C (p.Leu122Pro) c.617T>C (p.Leu206Pro) | |
| 6 | g.73638429A>T | CA364716736 | SLC17A5 | c.596T>A (p.Leu199His) n.362T>A c.545T>A (p.Leu182His) c.398T>A (p.Leu133His) c.365T>A (p.Leu122His) c.617T>A (p.Leu206His) | |
| 6 | g.73638430G>A | CA3890497 | SLC17A5 | c.595C>T (p.Leu199Phe) n.361C>T c.544C>T (p.Leu182Phe) c.397C>T (p.Leu133Phe) c.364C>T (p.Leu122Phe) c.616C>T (p.Leu206Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73638430G>C | CA364716737 | SLC17A5 | c.595C>G (p.Leu199Val) n.361C>G c.544C>G (p.Leu182Val) c.397C>G (p.Leu133Val) c.364C>G (p.Leu122Val) c.616C>G (p.Leu206Val) | |
| 6 | g.73638430G= | CA1638220397 | SLC17A5 | c.595C= (p.Leu199=) n.361C= c.544C= (p.Leu182=) c.397C= (p.Leu133=) c.364C= (p.Leu122=) c.616C= (p.Leu206=) | |
| 6 | g.73638430G>T | CA364716738 | SLC17A5 | c.595C>A (p.Leu199Ile) n.361C>A c.544C>A (p.Leu182Ile) c.397C>A (p.Leu133Ile) c.364C>A (p.Leu122Ile) c.616C>A (p.Leu206Ile) | |
| 6 | g.73638431A= | CA1638220399 | SLC17A5 | c.594T= (p.Leu198=) n.360T= c.543T= (p.Leu181=) c.396T= (p.Leu132=) c.363T= (p.Leu121=) c.615T= (p.Leu205=) | |
| 6 | g.73638431A>C | CA450912016 | SLC17A5 | c.594T>G (p.Leu198=) n.360T>G c.543T>G (p.Leu181=) c.396T>G (p.Leu132=) c.363T>G (p.Leu121=) c.615T>G (p.Leu205=) | |
| 6 | g.73638431A>G | CA3890498 | SLC17A5 | c.594T>C (p.Leu198=) n.360T>C c.543T>C (p.Leu181=) c.396T>C (p.Leu132=) c.363T>C (p.Leu121=) c.615T>C (p.Leu205=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73638431A>T | CA450912017 | SLC17A5 | c.594T>A (p.Leu198=) n.360T>A c.543T>A (p.Leu181=) c.396T>A (p.Leu132=) c.363T>A (p.Leu121=) c.615T>A (p.Leu205=) | |
| 6 | g.73638432A>C | CA364716741 | SLC17A5 | c.593T>G (p.Leu198Arg) n.359T>G c.542T>G (p.Leu181Arg) c.395T>G (p.Leu132Arg) c.362T>G (p.Leu121Arg) c.614T>G (p.Leu205Arg) | |
| 6 | g.73638432A>G | CA364716740 | SLC17A5 | c.593T>C (p.Leu198Pro) n.359T>C c.542T>C (p.Leu181Pro) c.395T>C (p.Leu132Pro) c.362T>C (p.Leu121Pro) c.614T>C (p.Leu205Pro) | |
| 6 | g.73638432A>T | CA364716739 | SLC17A5 | c.593T>A (p.Leu198His) n.359T>A c.542T>A (p.Leu181His) c.395T>A (p.Leu132His) c.362T>A (p.Leu121His) c.614T>A (p.Leu205His) | |
| 6 | g.73638433G>A | CA364716742 | SLC17A5 | c.592C>T (p.Leu198Phe) n.358C>T c.541C>T (p.Leu181Phe) c.394C>T (p.Leu132Phe) c.361C>T (p.Leu121Phe) c.613C>T (p.Leu205Phe) | |
| 6 | g.73638433G>C | CA364716743 | SLC17A5 | c.592C>G (p.Leu198Val) n.358C>G c.541C>G (p.Leu181Val) c.394C>G (p.Leu132Val) c.361C>G (p.Leu121Val) c.613C>G (p.Leu205Val) | |
| 6 | g.73638433G>T | CA364716744 | SLC17A5 | c.592C>A (p.Leu198Ile) n.358C>A c.541C>A (p.Leu181Ile) c.394C>A (p.Leu132Ile) c.361C>A (p.Leu121Ile) c.613C>A (p.Leu205Ile) | |
| 6 | g.73638434T>A | CA364716745 | SLC17A5 | c.591A>T (p.Lys197Asn) n.357A>T c.540A>T (p.Lys180Asn) c.393A>T (p.Lys131Asn) c.360A>T (p.Lys120Asn) c.612A>T (p.Lys204Asn) | |
| 6 | g.73638434T>C | CA450912018 | SLC17A5 | c.591A>G (p.Lys197=) n.357A>G c.540A>G (p.Lys180=) c.393A>G (p.Lys131=) c.360A>G (p.Lys120=) c.612A>G (p.Lys204=) | |
| 6 | g.73638434T>G | CA364716746 | SLC17A5 | c.591A>C (p.Lys197Asn) n.357A>C c.540A>C (p.Lys180Asn) c.393A>C (p.Lys131Asn) c.360A>C (p.Lys120Asn) c.612A>C (p.Lys204Asn) | |
| 6 | g.73638435T>A | CA364716747 | SLC17A5 | c.590A>T (p.Lys197Ile) n.356A>T c.539A>T (p.Lys180Ile) c.392A>T (p.Lys131Ile) c.359A>T (p.Lys120Ile) c.611A>T (p.Lys204Ile) | |
| 6 | g.73638435T>C | CA364716748 | SLC17A5 | c.590A>G (p.Lys197Arg) n.356A>G c.539A>G (p.Lys180Arg) c.392A>G (p.Lys131Arg) c.359A>G (p.Lys120Arg) c.611A>G (p.Lys204Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.73638435T>G | CA364716749 | SLC17A5 | c.590A>C (p.Lys197Thr) n.356A>C c.539A>C (p.Lys180Thr) c.392A>C (p.Lys131Thr) c.359A>C (p.Lys120Thr) c.611A>C (p.Lys204Thr) | |
| 6 | g.73638435T= | CA1638220403 | SLC17A5 | c.590A= (p.Lys197=) n.356A= c.539A= (p.Lys180=) c.392A= (p.Lys131=) c.359A= (p.Lys120=) c.611A= (p.Lys204=) | |
| 6 | g.73638436T>A | CA364716750 | SLC17A5 | c.589A>T (p.Lys197Ter) n.355A>T c.538A>T (p.Lys180Ter) c.391A>T (p.Lys131Ter) c.358A>T (p.Lys120Ter) c.610A>T (p.Lys204Ter) | |
| 6 | g.73638436T>C | CA364716751 | SLC17A5 | c.589A>G (p.Lys197Glu) n.355A>G c.538A>G (p.Lys180Glu) c.391A>G (p.Lys131Glu) c.358A>G (p.Lys120Glu) c.610A>G (p.Lys204Glu) | |
| 6 | g.73638436T>G | CA364716752 | SLC17A5 | c.589A>C (p.Lys197Gln) n.355A>C c.538A>C (p.Lys180Gln) c.391A>C (p.Lys131Gln) c.358A>C (p.Lys120Gln) c.610A>C (p.Lys204Gln) | |
| 6 | g.73638437G>A | CA450912019 | SLC17A5 | c.588C>T (p.Ser196=) n.354C>T c.537C>T (p.Ser179=) c.390C>T (p.Ser130=) c.357C>T (p.Ser119=) c.609C>T (p.Ser203=) | |
| 6 | g.73638437G>C | CA364716753 | SLC17A5 | c.588C>G (p.Ser196Arg) n.354C>G c.537C>G (p.Ser179Arg) c.390C>G (p.Ser130Arg) c.357C>G (p.Ser119Arg) c.609C>G (p.Ser203Arg) | gnomAD v4 |
| 6 | g.73638437G>T | CA364716754 | SLC17A5 | c.588C>A (p.Ser196Arg) n.354C>A c.537C>A (p.Ser179Arg) c.390C>A (p.Ser130Arg) c.357C>A (p.Ser119Arg) c.609C>A (p.Ser203Arg) | |
| 6 | g.73638438C>A | CA364716757 | SLC17A5 | c.587G>T (p.Ser196Ile) n.353G>T c.536G>T (p.Ser179Ile) c.389G>T (p.Ser130Ile) c.356G>T (p.Ser119Ile) c.608G>T (p.Ser203Ile) | |
| 6 | g.73638438C= | CA1638220406 | SLC17A5 | c.587G= (p.Ser196=) n.353G= c.536G= (p.Ser179=) c.389G= (p.Ser130=) c.356G= (p.Ser119=) c.608G= (p.Ser203=) | |
| 6 | g.73638438C>G | CA364716755 | SLC17A5 | c.587G>C (p.Ser196Thr) n.353G>C c.536G>C (p.Ser179Thr) c.389G>C (p.Ser130Thr) c.356G>C (p.Ser119Thr) c.608G>C (p.Ser203Thr) | |
| 6 | g.73638438C>T | CA364716756 | SLC17A5 | c.587G>A (p.Ser196Asn) n.353G>A c.536G>A (p.Ser179Asn) c.389G>A (p.Ser130Asn) c.356G>A (p.Ser119Asn) c.608G>A (p.Ser203Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73638439T>A | CA364716758 | SLC17A5 | c.586A>T (p.Ser196Cys) n.352A>T c.535A>T (p.Ser179Cys) c.388A>T (p.Ser130Cys) c.355A>T (p.Ser119Cys) c.607A>T (p.Ser203Cys) | |
| 6 | g.73638439T>C | CA364716759 | SLC17A5 | c.586A>G (p.Ser196Gly) n.352A>G c.535A>G (p.Ser179Gly) c.388A>G (p.Ser130Gly) c.355A>G (p.Ser119Gly) c.607A>G (p.Ser203Gly) | ClinVar gnomAD v4 |
| 6 | g.73638439T>G | CA364716760 | SLC17A5 | c.586A>C (p.Ser196Arg) n.352A>C c.535A>C (p.Ser179Arg) c.388A>C (p.Ser130Arg) c.355A>C (p.Ser119Arg) c.607A>C (p.Ser203Arg) | |
| 6 | g.73638440T>A | CA364716761 | SLC17A5 | c.585A>T (p.Arg195Ser) n.351A>T c.534A>T (p.Arg178Ser) c.387A>T (p.Arg129Ser) c.354A>T (p.Arg118Ser) c.606A>T (p.Arg202Ser) | |
| 6 | g.73638440T>C | CA450912020 | SLC17A5 | c.585A>G (p.Arg195=) n.351A>G c.534A>G (p.Arg178=) c.387A>G (p.Arg129=) c.354A>G (p.Arg118=) c.606A>G (p.Arg202=) | |
| 6 | g.73638440T>G | CA364716762 | SLC17A5 | c.585A>C (p.Arg195Ser) n.351A>C c.534A>C (p.Arg178Ser) c.387A>C (p.Arg129Ser) c.354A>C (p.Arg118Ser) c.606A>C (p.Arg202Ser) | |
| 6 | g.73638441C>A | CA364716763 | SLC17A5 | c.584G>T (p.Arg195Ile) n.350G>T c.533G>T (p.Arg178Ile) c.386G>T (p.Arg129Ile) c.353G>T (p.Arg118Ile) c.605G>T (p.Arg202Ile) | |
| 6 | g.73638441C= | CA1638220408 | SLC17A5 | c.584G= (p.Arg195=) n.350G= c.533G= (p.Arg178=) c.386G= (p.Arg129=) c.353G= (p.Arg118=) c.605G= (p.Arg202=) | |
| 6 | g.73638441C>G | CA3890499 | SLC17A5 | c.584G>C (p.Arg195Thr) n.350G>C c.533G>C (p.Arg178Thr) c.386G>C (p.Arg129Thr) c.353G>C (p.Arg118Thr) c.605G>C (p.Arg202Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73638441C>T | CA364716764 | SLC17A5 | c.584G>A (p.Arg195Lys) n.350G>A c.533G>A (p.Arg178Lys) c.386G>A (p.Arg129Lys) c.353G>A (p.Arg118Lys) c.605G>A (p.Arg202Lys) | gnomAD v4 COSMIC |
| 6 | g.73638442T>A | CA364716765 | SLC17A5 | c.583A>T (p.Arg195Ter) n.349A>T c.532A>T (p.Arg178Ter) c.385A>T (p.Arg129Ter) c.352A>T (p.Arg118Ter) c.604A>T (p.Arg202Ter) | |
| 6 | g.73638442T>C | CA364716766 | SLC17A5 | c.583A>G (p.Arg195Gly) n.349A>G c.532A>G (p.Arg178Gly) c.385A>G (p.Arg129Gly) c.352A>G (p.Arg118Gly) c.604A>G (p.Arg202Gly) | |
| 6 | g.73638442T>G | CA450912021 | SLC17A5 | c.583A>C (p.Arg195=) n.349A>C c.532A>C (p.Arg178=) c.385A>C (p.Arg129=) c.352A>C (p.Arg118=) c.604A>C (p.Arg202=) | |
| 6 | g.73638443T>A | CA364716767 | SLC17A5 | c.582A>T (p.Glu194Asp) n.348A>T c.531A>T (p.Glu177Asp) c.384A>T (p.Glu128Asp) c.351A>T (p.Glu117Asp) c.603A>T (p.Glu201Asp) | |
| 6 | g.73638443T>C | CA450912022 | SLC17A5 | c.582A>G (p.Glu194=) n.348A>G c.531A>G (p.Glu177=) c.384A>G (p.Glu128=) c.351A>G (p.Glu117=) c.603A>G (p.Glu201=) | |
| 6 | g.73638443T>G | CA364716768 | SLC17A5 | c.582A>C (p.Glu194Asp) n.348A>C c.531A>C (p.Glu177Asp) c.384A>C (p.Glu128Asp) c.351A>C (p.Glu117Asp) c.603A>C (p.Glu201Asp) | |
| 6 | g.73638444T>A | CA364716770 | SLC17A5 | c.581A>T (p.Glu194Val) n.347A>T c.530A>T (p.Glu177Val) c.383A>T (p.Glu128Val) c.350A>T (p.Glu117Val) c.602A>T (p.Glu201Val) | |
| 6 | g.73638444T>C | CA364716771 | SLC17A5 | c.581A>G (p.Glu194Gly) n.347A>G c.530A>G (p.Glu177Gly) c.383A>G (p.Glu128Gly) c.350A>G (p.Glu117Gly) c.602A>G (p.Glu201Gly) | gnomAD v4 |
| 6 | g.73638444T>G | CA364716769 | SLC17A5 | c.581A>C (p.Glu194Ala) n.347A>C c.530A>C (p.Glu177Ala) c.383A>C (p.Glu128Ala) c.350A>C (p.Glu117Ala) c.602A>C (p.Glu201Ala) | |
| 6 | g.73638445C>A | CA364716772 | SLC17A5 | c.580G>T (p.Glu194Ter) n.346G>T c.529G>T (p.Glu177Ter) c.382G>T (p.Glu128Ter) c.349G>T (p.Glu117Ter) c.601G>T (p.Glu201Ter) | |
| 6 | g.73638445C= | CA1638220411 | SLC17A5 | c.580G= (p.Glu194=) n.346G= c.529G= (p.Glu177=) c.382G= (p.Glu128=) c.349G= (p.Glu117=) c.601G= (p.Glu201=) | |
| 6 | g.73638445C>G | CA3890500 | SLC17A5 | c.580G>C (p.Glu194Gln) n.346G>C c.529G>C (p.Glu177Gln) c.382G>C (p.Glu128Gln) c.349G>C (p.Glu117Gln) c.601G>C (p.Glu201Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73638445C>T | CA364716773 | SLC17A5 | c.580G>A (p.Glu194Lys) n.346G>A c.529G>A (p.Glu177Lys) c.382G>A (p.Glu128Lys) c.349G>A (p.Glu117Lys) c.601G>A (p.Glu201Lys) | |
| 6 | g.73638446A>C | CA450912025 | SLC17A5 | c.579T>G (p.Leu193=) n.345T>G c.528T>G (p.Leu176=) c.381T>G (p.Leu127=) c.348T>G (p.Leu116=) c.600T>G (p.Leu200=) | ClinVar |
| 6 | g.73638446A>G | CA450912024 | SLC17A5 | c.579T>C (p.Leu193=) n.345T>C c.528T>C (p.Leu176=) c.381T>C (p.Leu127=) c.348T>C (p.Leu116=) c.600T>C (p.Leu200=) | |
| 6 | g.73638446A>T | CA450912023 | SLC17A5 | c.579T>A (p.Leu193=) n.345T>A c.528T>A (p.Leu176=) c.381T>A (p.Leu127=) c.348T>A (p.Leu116=) c.600T>A (p.Leu200=) | |
| 6 | g.73638447A= | CA1638220414 | SLC17A5 | c.578T= (p.Leu193=) n.344T= c.527T= (p.Leu176=) c.380T= (p.Leu127=) c.347T= (p.Leu116=) c.599T= (p.Leu200=) | |
| 6 | g.73638447A>C | CA364716774 | SLC17A5 | c.578T>G (p.Leu193Arg) n.344T>G c.527T>G (p.Leu176Arg) c.380T>G (p.Leu127Arg) c.347T>G (p.Leu116Arg) c.599T>G (p.Leu200Arg) | |
| 6 | g.73638447A>G | CA364716776 | SLC17A5 | c.578T>C (p.Leu193Pro) n.344T>C c.527T>C (p.Leu176Pro) c.380T>C (p.Leu127Pro) c.347T>C (p.Leu116Pro) c.599T>C (p.Leu200Pro) | ClinVar |
| 6 | g.73638447A>T | CA364716775 | SLC17A5 | c.578T>A (p.Leu193His) n.344T>A c.527T>A (p.Leu176His) c.380T>A (p.Leu127His) c.347T>A (p.Leu116His) c.599T>A (p.Leu200His) | dbSNP |
| 6 | g.73638447_73638448delinsAG | CA1638220413 | SLC17A5 | c.577_578delinsCT (p.Leu193=) n.343_344delinsCT c.526_527delinsCT (p.Leu176=) c.379_380delinsCT (p.Leu127=) c.346_347delinsCT (p.Leu116=) c.598_599delinsCT (p.Leu200=) | |
| 6 | g.73638448del | CA140973789 | SLC17A5 | c.577del (p.Glu194LysfsTer18) n.343del c.526del (p.Glu177LysfsTer18) c.379del (p.Glu128LysfsTer18) c.346del (p.Glu117LysfsTer18) c.598del (p.Glu201LysfsTer18) c.577del (p.Glu194LysfsTer25) c.577del (p.Glu194LysfsTer17) c.346del (p.Glu117LysfsTer25) | dbSNP |
| 6 | g.73638448G>A | CA364716777 | SLC17A5 | c.577C>T (p.Leu193Phe) n.343C>T c.526C>T (p.Leu176Phe) c.379C>T (p.Leu127Phe) c.346C>T (p.Leu116Phe) c.598C>T (p.Leu200Phe) | gnomAD v4 |
| 6 | g.73638448G>C | CA364716779 | SLC17A5 | c.577C>G (p.Leu193Val) n.343C>G c.526C>G (p.Leu176Val) c.379C>G (p.Leu127Val) c.346C>G (p.Leu116Val) c.598C>G (p.Leu200Val) | |
| 6 | g.73638448G>T | CA364716778 | SLC17A5 | c.577C>A (p.Leu193Ile) n.343C>A c.526C>A (p.Leu176Ile) c.379C>A (p.Leu127Ile) c.346C>A (p.Leu116Ile) c.598C>A (p.Leu200Ile) | |
| 6 | g.73638449A= | CA1638220418 | SLC17A5 | c.576T= (p.Pro192=) n.342T= c.525T= (p.Pro175=) c.378T= (p.Pro126=) c.345T= (p.Pro115=) c.597T= (p.Pro199=) | |
| 6 | g.73638449A>C | CA450912028 | SLC17A5 | c.576T>G (p.Pro192=) n.342T>G c.525T>G (p.Pro175=) c.378T>G (p.Pro126=) c.345T>G (p.Pro115=) c.597T>G (p.Pro199=) | dbSNP |
| 6 | g.73638449A>G | CA450912027 | SLC17A5 | c.576T>C (p.Pro192=) n.342T>C c.525T>C (p.Pro175=) c.378T>C (p.Pro126=) c.345T>C (p.Pro115=) c.597T>C (p.Pro199=) | |
| 6 | g.73638449A>T | CA450912026 | SLC17A5 | c.576T>A (p.Pro192=) n.342T>A c.525T>A (p.Pro175=) c.378T>A (p.Pro126=) c.345T>A (p.Pro115=) c.597T>A (p.Pro199=) | |
| 6 | g.73638450G>A | CA140973794 | SLC17A5 | c.575C>T (p.Pro192Leu) n.341C>T c.524C>T (p.Pro175Leu) c.377C>T (p.Pro126Leu) c.344C>T (p.Pro115Leu) c.596C>T (p.Pro199Leu) | dbSNP gnomAD v4 |
| 6 | g.73638450G>C | CA140973798 | SLC17A5 | c.575C>G (p.Pro192Arg) n.341C>G c.524C>G (p.Pro175Arg) c.377C>G (p.Pro126Arg) c.344C>G (p.Pro115Arg) c.596C>G (p.Pro199Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.73638450G= | CA1638220422 | SLC17A5 | c.575C= (p.Pro192=) n.341C= c.524C= (p.Pro175=) c.377C= (p.Pro126=) c.344C= (p.Pro115=) c.596C= (p.Pro199=) | |
| 6 | g.73638450G>T | CA364716780 | SLC17A5 | c.575C>A (p.Pro192His) n.341C>A c.524C>A (p.Pro175His) c.377C>A (p.Pro126His) c.344C>A (p.Pro115His) c.596C>A (p.Pro199His) | |
| 6 | g.73638454dup | CA827973544 | SLC17A5 | c.575dup (p.Leu193SerfsTer2) n.341dup c.524dup (p.Leu176SerfsTer2) c.377dup (p.Leu127SerfsTer2) c.344dup (p.Leu116SerfsTer2) c.596dup (p.Leu200SerfsTer2) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.73638454del | CA2580075779 | SLC17A5 | c.575del (p.Pro192LeufsTer20) n.341del c.524del (p.Pro175LeufsTer20) c.377del (p.Pro126LeufsTer20) c.344del (p.Pro115LeufsTer20) c.596del (p.Pro199LeufsTer20) c.575del (p.Pro192LeufsTer27) c.575del (p.Pro192LeufsTer19) c.344del (p.Pro115LeufsTer27) | ClinVar |
| 6 | g.73638451G>A | CA3890501 | SLC17A5 | c.574C>T (p.Pro192Ser) n.340C>T c.523C>T (p.Pro175Ser) c.376C>T (p.Pro126Ser) c.343C>T (p.Pro115Ser) c.595C>T (p.Pro199Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73638451G>C | CA364716781 | SLC17A5 | c.574C>G (p.Pro192Ala) n.340C>G c.523C>G (p.Pro175Ala) c.376C>G (p.Pro126Ala) c.343C>G (p.Pro115Ala) c.595C>G (p.Pro199Ala) | gnomAD v4 |
| 6 | g.73638451G= | CA1638220425 | SLC17A5 | c.574C= (p.Pro192=) n.340C= c.523C= (p.Pro175=) c.376C= (p.Pro126=) c.343C= (p.Pro115=) c.595C= (p.Pro199=) | |
| 6 | g.73638451G>T | CA364716782 | SLC17A5 | c.574C>A (p.Pro192Thr) n.340C>A c.523C>A (p.Pro175Thr) c.376C>A (p.Pro126Thr) c.343C>A (p.Pro115Thr) c.595C>A (p.Pro199Thr) | |
| 6 | g.73638452G>A | CA450912029 | SLC17A5 | c.573C>T (p.Pro191=) n.339C>T c.522C>T (p.Pro174=) c.375C>T (p.Pro125=) c.342C>T (p.Pro114=) c.594C>T (p.Pro198=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.73638452G>C | CA140973803 | SLC17A5 | c.573C>G (p.Pro191=) n.339C>G c.522C>G (p.Pro174=) c.375C>G (p.Pro125=) c.342C>G (p.Pro114=) c.594C>G (p.Pro198=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73638452G= | CA1638220428 | SLC17A5 | c.573C= (p.Pro191=) n.339C= c.522C= (p.Pro174=) c.375C= (p.Pro125=) c.342C= (p.Pro114=) c.594C= (p.Pro198=) | |
| 6 | g.73638452G>T | CA450912030 | SLC17A5 | c.573C>A (p.Pro191=) n.339C>A c.522C>A (p.Pro174=) c.375C>A (p.Pro125=) c.342C>A (p.Pro114=) c.594C>A (p.Pro198=) | gnomAD v4 |
| 6 | g.73638453G>A | CA364716785 | SLC17A5 | c.572C>T (p.Pro191Leu) n.338C>T c.521C>T (p.Pro174Leu) c.374C>T (p.Pro125Leu) c.341C>T (p.Pro114Leu) c.593C>T (p.Pro198Leu) | |
| 6 | g.73638453G>C | CA364716784 | SLC17A5 | c.572C>G (p.Pro191Arg) n.338C>G c.521C>G (p.Pro174Arg) c.374C>G (p.Pro125Arg) c.341C>G (p.Pro114Arg) c.593C>G (p.Pro198Arg) | |
| 6 | g.73638453G= | CA1638220432 | SLC17A5 | c.572C= (p.Pro191=) n.338C= c.521C= (p.Pro174=) c.374C= (p.Pro125=) c.341C= (p.Pro114=) c.593C= (p.Pro198=) | |
| 6 | g.73638453G>T | CA364716783 | SLC17A5 | c.572C>A (p.Pro191His) n.338C>A c.521C>A (p.Pro174His) c.374C>A (p.Pro125His) c.341C>A (p.Pro114His) c.593C>A (p.Pro198His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.73638454G>A | CA364716786 | SLC17A5 | c.571C>T (p.Pro191Ser) n.337C>T c.520C>T (p.Pro174Ser) c.373C>T (p.Pro125Ser) c.340C>T (p.Pro114Ser) c.592C>T (p.Pro198Ser) | |
| 6 | g.73638454G>C | CA364716787 | SLC17A5 | c.571C>G (p.Pro191Ala) n.337C>G c.520C>G (p.Pro174Ala) c.373C>G (p.Pro125Ala) c.340C>G (p.Pro114Ala) c.592C>G (p.Pro198Ala) | |
| 6 | g.73638454G>T | CA364716788 | SLC17A5 | c.571C>A (p.Pro191Thr) n.337C>A c.520C>A (p.Pro174Thr) c.373C>A (p.Pro125Thr) c.340C>A (p.Pro114Thr) c.592C>A (p.Pro198Thr) | |
| 6 | g.73638455A>C | CA450912031 | SLC17A5 | c.570T>G (p.Ala190=) n.336T>G c.519T>G (p.Ala173=) c.372T>G (p.Ala124=) c.339T>G (p.Ala113=) c.591T>G (p.Ala197=) | |
| 6 | g.73638455A>G | CA450912032 | SLC17A5 | c.570T>C (p.Ala190=) n.336T>C c.519T>C (p.Ala173=) c.372T>C (p.Ala124=) c.339T>C (p.Ala113=) c.591T>C (p.Ala197=) | |
| 6 | g.73638455A>T | CA450912033 | SLC17A5 | c.570T>A (p.Ala190=) n.336T>A c.519T>A (p.Ala173=) c.372T>A (p.Ala124=) c.339T>A (p.Ala113=) c.591T>A (p.Ala197=) | |
| 6 | g.73638456G>A | CA364716789 | SLC17A5 | c.569C>T (p.Ala190Val) n.335C>T c.518C>T (p.Ala173Val) c.371C>T (p.Ala124Val) c.338C>T (p.Ala113Val) c.590C>T (p.Ala197Val) | gnomAD v4 COSMIC |
| 6 | g.73638456G>C | CA364716790 | SLC17A5 | c.569C>G (p.Ala190Gly) n.335C>G c.518C>G (p.Ala173Gly) c.371C>G (p.Ala124Gly) c.338C>G (p.Ala113Gly) c.590C>G (p.Ala197Gly) | |
| 6 | g.73638456G>T | CA364716791 | SLC17A5 | c.569C>A (p.Ala190Asp) n.335C>A c.518C>A (p.Ala173Asp) c.371C>A (p.Ala124Asp) c.338C>A (p.Ala113Asp) c.590C>A (p.Ala197Asp) | |
| 6 | g.73638457C>A | CA364716792 | SLC17A5 | c.568G>T (p.Ala190Ser) n.334G>T c.517G>T (p.Ala173Ser) c.370G>T (p.Ala124Ser) c.337G>T (p.Ala113Ser) c.589G>T (p.Ala197Ser) | |
| 6 | g.73638457C>G | CA364716794 | SLC17A5 | c.568G>C (p.Ala190Pro) n.334G>C c.517G>C (p.Ala173Pro) c.370G>C (p.Ala124Pro) c.337G>C (p.Ala113Pro) c.589G>C (p.Ala197Pro) | |
| 6 | g.73638457C>T | CA364716793 | SLC17A5 | c.568G>A (p.Ala190Thr) n.334G>A c.517G>A (p.Ala173Thr) c.370G>A (p.Ala124Thr) c.337G>A (p.Ala113Thr) c.589G>A (p.Ala197Thr) | ClinVar gnomAD v4 |
| 6 | g.73638458C>A | CA364716795 | SLC17A5 | c.567G>T (p.Trp189Cys) n.333G>T c.516G>T (p.Trp172Cys) c.369G>T (p.Trp123Cys) c.336G>T (p.Trp112Cys) c.588G>T (p.Trp196Cys) | |
| 6 | g.73638458C>G | CA364716796 | SLC17A5 | c.567G>C (p.Trp189Cys) n.333G>C c.516G>C (p.Trp172Cys) c.369G>C (p.Trp123Cys) c.336G>C (p.Trp112Cys) c.588G>C (p.Trp196Cys) | |
| 6 | g.73638458C>T | CA364716797 | SLC17A5 | c.567G>A (p.Trp189Ter) n.333G>A c.516G>A (p.Trp172Ter) c.369G>A (p.Trp123Ter) c.336G>A (p.Trp112Ter) c.588G>A (p.Trp196Ter) | gnomAD v4 |
| 6 | g.73638459C>A | CA364716798 | SLC17A5 | c.566G>T (p.Trp189Leu) n.332G>T c.515G>T (p.Trp172Leu) c.368G>T (p.Trp123Leu) c.335G>T (p.Trp112Leu) c.587G>T (p.Trp196Leu) | |
| 6 | g.73638459C= | CA1638220436 | SLC17A5 | c.566G= (p.Trp189=) n.332G= c.515G= (p.Trp172=) c.368G= (p.Trp123=) c.335G= (p.Trp112=) c.587G= (p.Trp196=) | |
| 6 | g.73638459C>G | CA364716799 | SLC17A5 | c.566G>C (p.Trp189Ser) n.332G>C c.515G>C (p.Trp172Ser) c.368G>C (p.Trp123Ser) c.335G>C (p.Trp112Ser) c.587G>C (p.Trp196Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.73638459C>T | CA364716800 | SLC17A5 | c.566G>A (p.Trp189Ter) n.332G>A c.515G>A (p.Trp172Ter) c.368G>A (p.Trp123Ter) c.335G>A (p.Trp112Ter) c.587G>A (p.Trp196Ter) | |
| 6 | g.73638459_73638460insCCTCTGCCCGGCCGCCCCT | CA2679404737 | SLC17A5 | c.565_566insAGGGGCGGCCGGGCAGAGG (p.Trp189Ter) n.331_332insAGGGGCGGCCGGGCAGAGG c.514_515insAGGGGCGGCCGGGCAGAGG (p.Trp172Ter) c.367_368insAGGGGCGGCCGGGCAGAGG (p.Trp123Ter) c.334_335insAGGGGCGGCCGGGCAGAGG (p.Trp112Ter) c.586_587insAGGGGCGGCCGGGCAGAGG (p.Trp196Ter) | gnomAD v4 |
| 6 | g.73638460A>C | CA364716801 | SLC17A5 | c.565T>G (p.Trp189Gly) n.331T>G c.514T>G (p.Trp172Gly) c.367T>G (p.Trp123Gly) c.334T>G (p.Trp112Gly) c.586T>G (p.Trp196Gly) | |
| 6 | g.73638460A>G | CA364716802 | SLC17A5 | c.565T>C (p.Trp189Arg) n.331T>C c.514T>C (p.Trp172Arg) c.367T>C (p.Trp123Arg) c.334T>C (p.Trp112Arg) c.586T>C (p.Trp196Arg) | |
| 6 | g.73638460A>T | CA364716803 | SLC17A5 | c.565T>A (p.Trp189Arg) n.331T>A c.514T>A (p.Trp172Arg) c.367T>A (p.Trp123Arg) c.334T>A (p.Trp112Arg) c.586T>A (p.Trp196Arg) | |
| 6 | g.73638460_73638461insCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG | CA2679404738 | SLC17A5 | c.564_565insCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG (p.Trp189ProfsTer21) n.330_331insCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG c.513_514insCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG (p.Trp172ProfsTer21) c.366_367insCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG (p.Trp123ProfsTer21) c.333_334insCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG (p.Trp112ProfsTer21) c.585_586insCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG (p.Trp196ProfsTer21) | gnomAD v4 |
| 6 | g.73638461A>C | CA450912034 | SLC17A5 | c.564T>G (p.Ser188=) n.330T>G c.513T>G (p.Ser171=) c.366T>G (p.Ser122=) c.333T>G (p.Ser111=) c.585T>G (p.Ser195=) | |
| 6 | g.73638461A>G | CA450912035 | SLC17A5 | c.564T>C (p.Ser188=) n.330T>C c.513T>C (p.Ser171=) c.366T>C (p.Ser122=) c.333T>C (p.Ser111=) c.585T>C (p.Ser195=) | ClinVar gnomAD v4 |
| 6 | g.73638461A>T | CA450912036 | SLC17A5 | c.564T>A (p.Ser188=) n.330T>A c.513T>A (p.Ser171=) c.366T>A (p.Ser122=) c.333T>A (p.Ser111=) c.585T>A (p.Ser195=) | |
| 6 | g.73638462G>A | CA364716804 | SLC17A5 | c.563C>T (p.Ser188Phe) n.329C>T c.512C>T (p.Ser171Phe) c.365C>T (p.Ser122Phe) c.332C>T (p.Ser111Phe) c.584C>T (p.Ser195Phe) | dbSNP gnomAD v4 |
| 6 | g.73638462G>C | CA364716805 | SLC17A5 | c.563C>G (p.Ser188Cys) n.329C>G c.512C>G (p.Ser171Cys) c.365C>G (p.Ser122Cys) c.332C>G (p.Ser111Cys) c.584C>G (p.Ser195Cys) | gnomAD v4 |
| 6 | g.73638462G= | CA1638220439 | SLC17A5 | c.563C= (p.Ser188=) n.329C= c.512C= (p.Ser171=) c.365C= (p.Ser122=) c.332C= (p.Ser111=) c.584C= (p.Ser195=) | |
| 6 | g.73638462G>T | CA364716806 | SLC17A5 | c.563C>A (p.Ser188Tyr) n.329C>A c.512C>A (p.Ser171Tyr) c.365C>A (p.Ser122Tyr) c.332C>A (p.Ser111Tyr) c.584C>A (p.Ser195Tyr) | dbSNP |
| 6 | g.73638463A>C | CA364716807 | SLC17A5 | c.562T>G (p.Ser188Ala) n.328T>G c.511T>G (p.Ser171Ala) c.364T>G (p.Ser122Ala) c.331T>G (p.Ser111Ala) c.583T>G (p.Ser195Ala) | |
| 6 | g.73638463A>G | CA364716809 | SLC17A5 | c.562T>C (p.Ser188Pro) n.328T>C c.511T>C (p.Ser171Pro) c.364T>C (p.Ser122Pro) c.331T>C (p.Ser111Pro) c.583T>C (p.Ser195Pro) | |
| 6 | g.73638463A>T | CA364716808 | SLC17A5 | c.562T>A (p.Ser188Thr) n.328T>A c.511T>A (p.Ser171Thr) c.364T>A (p.Ser122Thr) c.331T>A (p.Ser111Thr) c.583T>A (p.Ser195Thr) | |
| 6 | g.73638464A>C | CA450912037 | SLC17A5 | c.561T>G (p.Ser187=) n.327T>G c.510T>G (p.Ser170=) c.363T>G (p.Ser121=) c.330T>G (p.Ser110=) c.582T>G (p.Ser194=) | |
| 6 | g.73638464A>G | CA450912038 | SLC17A5 | c.561T>C (p.Ser187=) n.327T>C c.510T>C (p.Ser170=) c.363T>C (p.Ser121=) c.330T>C (p.Ser110=) c.582T>C (p.Ser194=) | |
| 6 | g.73638464A>T | CA450912039 | SLC17A5 | c.561T>A (p.Ser187=) n.327T>A c.510T>A (p.Ser170=) c.363T>A (p.Ser121=) c.330T>A (p.Ser110=) c.582T>A (p.Ser194=) | |
| 6 | g.73638465G>A | CA364716810 | SLC17A5 | c.560C>T (p.Ser187Phe) n.326C>T c.509C>T (p.Ser170Phe) c.362C>T (p.Ser121Phe) c.329C>T (p.Ser110Phe) c.581C>T (p.Ser194Phe) | |
| 6 | g.73638465G>C | CA364716811 | SLC17A5 | c.560C>G (p.Ser187Cys) n.326C>G c.509C>G (p.Ser170Cys) c.362C>G (p.Ser121Cys) c.329C>G (p.Ser110Cys) c.581C>G (p.Ser194Cys) | |
| 6 | g.73638465G>T | CA364716812 | SLC17A5 | c.560C>A (p.Ser187Tyr) n.326C>A c.509C>A (p.Ser170Tyr) c.362C>A (p.Ser121Tyr) c.329C>A (p.Ser110Tyr) c.581C>A (p.Ser194Tyr) | |
| 6 | g.73638466A>C | CA364716813 | SLC17A5 | c.559T>G (p.Ser187Ala) n.325T>G c.508T>G (p.Ser170Ala) c.361T>G (p.Ser121Ala) c.328T>G (p.Ser110Ala) c.580T>G (p.Ser194Ala) | |
| 6 | g.73638466A>G | CA364716814 | SLC17A5 | c.559T>C (p.Ser187Pro) n.325T>C c.508T>C (p.Ser170Pro) c.361T>C (p.Ser121Pro) c.328T>C (p.Ser110Pro) c.580T>C (p.Ser194Pro) | |
| 6 | g.73638466A>T | CA364716815 | SLC17A5 | c.559T>A (p.Ser187Thr) n.325T>A c.508T>A (p.Ser170Thr) c.361T>A (p.Ser121Thr) c.328T>A (p.Ser110Thr) c.580T>A (p.Ser194Thr) | |
| 6 | g.73638467C>A | CA364716816 | SLC17A5 | c.558G>T (p.Trp186Cys) n.324G>T c.507G>T (p.Trp169Cys) c.360G>T (p.Trp120Cys) c.327G>T (p.Trp109Cys) c.579G>T (p.Trp193Cys) | |
| 6 | g.73638467C= | CA1638220442 | SLC17A5 | c.558G= (p.Trp186=) n.324G= c.507G= (p.Trp169=) c.360G= (p.Trp120=) c.327G= (p.Trp109=) c.579G= (p.Trp193=) | |
| 6 | g.73638467C>G | CA364716817 | SLC17A5 | c.558G>C (p.Trp186Cys) n.324G>C c.507G>C (p.Trp169Cys) c.360G>C (p.Trp120Cys) c.327G>C (p.Trp109Cys) c.579G>C (p.Trp193Cys) | |
| 6 | g.73638467C>T | CA3890502 | SLC17A5 | c.558G>A (p.Trp186Ter) n.324G>A c.507G>A (p.Trp169Ter) c.360G>A (p.Trp120Ter) c.327G>A (p.Trp109Ter) c.579G>A (p.Trp193Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73638468C>A | CA364716818 | SLC17A5 | c.557G>T (p.Trp186Leu) n.323G>T c.506G>T (p.Trp169Leu) c.359G>T (p.Trp120Leu) c.326G>T (p.Trp109Leu) c.578G>T (p.Trp193Leu) | |
| 6 | g.73638468C>G | CA364716819 | SLC17A5 | c.557G>C (p.Trp186Ser) n.323G>C c.506G>C (p.Trp169Ser) c.359G>C (p.Trp120Ser) c.326G>C (p.Trp109Ser) c.578G>C (p.Trp193Ser) | |
| 6 | g.73638468C>T | CA364716820 | SLC17A5 | c.557G>A (p.Trp186Ter) n.323G>A c.506G>A (p.Trp169Ter) c.359G>A (p.Trp120Ter) c.326G>A (p.Trp109Ter) c.578G>A (p.Trp193Ter) | |
| 6 | g.73638469A>C | CA364716823 | SLC17A5 | c.556T>G (p.Trp186Gly) n.322T>G c.505T>G (p.Trp169Gly) c.358T>G (p.Trp120Gly) c.325T>G (p.Trp109Gly) c.577T>G (p.Trp193Gly) | |
| 6 | g.73638469A>G | CA364716822 | SLC17A5 | c.556T>C (p.Trp186Arg) n.322T>C c.505T>C (p.Trp169Arg) c.358T>C (p.Trp120Arg) c.325T>C (p.Trp109Arg) c.577T>C (p.Trp193Arg) | |
| 6 | g.73638469A>T | CA364716821 | SLC17A5 | c.556T>A (p.Trp186Arg) n.322T>A c.505T>A (p.Trp169Arg) c.358T>A (p.Trp120Arg) c.325T>A (p.Trp109Arg) c.577T>A (p.Trp193Arg) | |
| 6 | g.73638470C>A | CA364716824 | SLC17A5 | c.555G>T (p.Met185Ile) n.321G>T c.504G>T (p.Met168Ile) c.357G>T (p.Met119Ile) c.324G>T (p.Met108Ile) c.576G>T (p.Met192Ile) | |
| 6 | g.73638470C>G | CA364716827 | SLC17A5 | c.555G>C (p.Met185Ile) n.321G>C c.504G>C (p.Met168Ile) c.357G>C (p.Met119Ile) c.324G>C (p.Met108Ile) c.576G>C (p.Met192Ile) | gnomAD v4 |
| 6 | g.73638470C>T | CA364716829 | SLC17A5 | c.555G>A (p.Met185Ile) n.321G>A c.504G>A (p.Met168Ile) c.357G>A (p.Met119Ile) c.324G>A (p.Met108Ile) c.576G>A (p.Met192Ile) | gnomAD v4 |
| 6 | g.73638471A= | CA1638220447 | SLC17A5 | c.554T= (p.Met185=) n.320T= c.503T= (p.Met168=) c.356T= (p.Met119=) c.323T= (p.Met108=) c.575T= (p.Met192=) | |
| 6 | g.73638471A>C | CA364716831 | SLC17A5 | c.554T>G (p.Met185Arg) n.320T>G c.503T>G (p.Met168Arg) c.356T>G (p.Met119Arg) c.323T>G (p.Met108Arg) c.575T>G (p.Met192Arg) | |
| 6 | g.73638471A>G | CA3890503 | SLC17A5 | c.554T>C (p.Met185Thr) n.320T>C c.503T>C (p.Met168Thr) c.356T>C (p.Met119Thr) c.323T>C (p.Met108Thr) c.575T>C (p.Met192Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73638471A>T | CA364716835 | SLC17A5 | c.554T>A (p.Met185Lys) n.320T>A c.503T>A (p.Met168Lys) c.356T>A (p.Met119Lys) c.323T>A (p.Met108Lys) c.575T>A (p.Met192Lys) | |
| 6 | g.73638472T>A | CA364716837 | SLC17A5 | c.553A>T (p.Met185Leu) n.319A>T c.502A>T (p.Met168Leu) c.355A>T (p.Met119Leu) c.322A>T (p.Met108Leu) c.574A>T (p.Met192Leu) | |
| 6 | g.73638472T>C | CA3890504 | SLC17A5 | c.553A>G (p.Met185Val) n.319A>G c.502A>G (p.Met168Val) c.355A>G (p.Met119Val) c.322A>G (p.Met108Val) c.574A>G (p.Met192Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73638472T>G | CA364716838 | SLC17A5 | c.553A>C (p.Met185Leu) n.319A>C c.502A>C (p.Met168Leu) c.355A>C (p.Met119Leu) c.322A>C (p.Met108Leu) c.574A>C (p.Met192Leu) | |
| 6 | g.73638472T= | CA1638220448 | SLC17A5 | c.553A= (p.Met185=) n.319A= c.502A= (p.Met168=) c.355A= (p.Met119=) c.322A= (p.Met108=) c.574A= (p.Met192=) | |
| 6 | g.73638473G>A | CA450912042 | SLC17A5 | c.552C>T (p.Ala184=) n.318C>T c.501C>T (p.Ala167=) c.354C>T (p.Ala118=) c.321C>T (p.Ala107=) c.573C>T (p.Ala191=) | |
| 6 | g.73638473G>C | CA450912040 | SLC17A5 | c.552C>G (p.Ala184=) n.318C>G c.501C>G (p.Ala167=) c.354C>G (p.Ala118=) c.321C>G (p.Ala107=) c.573C>G (p.Ala191=) | |
| 6 | g.73638473G>T | CA450912041 | SLC17A5 | c.552C>A (p.Ala184=) n.318C>A c.501C>A (p.Ala167=) c.354C>A (p.Ala118=) c.321C>A (p.Ala107=) c.573C>A (p.Ala191=) | |
| 6 | g.73638474G>A | CA364716839 | SLC17A5 | c.551C>T (p.Ala184Val) n.317C>T c.500C>T (p.Ala167Val) c.353C>T (p.Ala118Val) c.320C>T (p.Ala107Val) c.572C>T (p.Ala191Val) | |
| 6 | g.73638474G>C | CA364716840 | SLC17A5 | c.551C>G (p.Ala184Gly) n.317C>G c.500C>G (p.Ala167Gly) c.353C>G (p.Ala118Gly) c.320C>G (p.Ala107Gly) c.572C>G (p.Ala191Gly) | |
| 6 | g.73638474G>T | CA364716841 | SLC17A5 | c.551C>A (p.Ala184Asp) n.317C>A c.500C>A (p.Ala167Asp) c.353C>A (p.Ala118Asp) c.320C>A (p.Ala107Asp) c.572C>A (p.Ala191Asp) | |
| 6 | g.73638475C>A | CA3890505 | SLC17A5 | c.550G>T (p.Ala184Ser) n.316G>T c.499G>T (p.Ala167Ser) c.352G>T (p.Ala118Ser) c.319G>T (p.Ala107Ser) c.571G>T (p.Ala191Ser) | dbSNP ExAC gnomAD v2 |
| 6 | g.73638475C= | CA1638220450 | SLC17A5 | c.550G= (p.Ala184=) n.316G= c.499G= (p.Ala167=) c.352G= (p.Ala118=) c.319G= (p.Ala107=) c.571G= (p.Ala191=) | |
| 6 | g.73638475C>G | CA364716849 | SLC17A5 | c.550G>C (p.Ala184Pro) n.316G>C c.499G>C (p.Ala167Pro) c.352G>C (p.Ala118Pro) c.319G>C (p.Ala107Pro) c.571G>C (p.Ala191Pro) | |
| 6 | g.73638475C>T | CA364716846 | SLC17A5 | c.550G>A (p.Ala184Thr) n.316G>A c.499G>A (p.Ala167Thr) c.352G>A (p.Ala118Thr) c.319G>A (p.Ala107Thr) c.571G>A (p.Ala191Thr) | |
| 6 | g.73638476A= | CA1638220453 | SLC17A5 | c.549T= (p.His183=) n.315T= c.498T= (p.His166=) c.351T= (p.His117=) c.318T= (p.His106=) c.570T= (p.His190=) | |
| 6 | g.73638476A>C | CA3890506 | SLC17A5 | c.549T>G (p.His183Gln) n.315T>G c.498T>G (p.His166Gln) c.351T>G (p.His117Gln) c.318T>G (p.His106Gln) c.570T>G (p.His190Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73638476A>G | CA450912043 | SLC17A5 | c.549T>C (p.His183=) n.315T>C c.498T>C (p.His166=) c.351T>C (p.His117=) c.318T>C (p.His106=) c.570T>C (p.His190=) | ClinVar |
| 6 | g.73638476A>T | CA364716852 | SLC17A5 | c.549T>A (p.His183Gln) n.315T>A c.498T>A (p.His166Gln) c.351T>A (p.His117Gln) c.318T>A (p.His106Gln) c.570T>A (p.His190Gln) | |
| 6 | g.73638477T>A | CA364716854 | SLC17A5 | c.548A>T (p.His183Leu) n.314A>T c.497A>T (p.His166Leu) c.350A>T (p.His117Leu) c.317A>T (p.His106Leu) c.569A>T (p.His190Leu) | |
| 6 | g.73638477T>C | CA253538 | SLC17A5 | c.548A>G (p.His183Arg) n.314A>G c.497A>G (p.His166Arg) c.350A>G (p.His117Arg) c.317A>G (p.His106Arg) c.569A>G (p.His190Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73638477T>G | CA364716857 | SLC17A5 | c.548A>C (p.His183Pro) n.314A>C c.497A>C (p.His166Pro) c.350A>C (p.His117Pro) c.317A>C (p.His106Pro) c.569A>C (p.His190Pro) | |
| 6 | g.73638477T= | CA1638220457 | SLC17A5 | c.548A= (p.His183=) n.314A= c.497A= (p.His166=) c.350A= (p.His117=) c.317A= (p.His106=) c.569A= (p.His190=) | |
| 6 | g.73638478G>A | CA364716860 | SLC17A5 | c.547C>T (p.His183Tyr) n.313C>T c.496C>T (p.His166Tyr) c.349C>T (p.His117Tyr) c.316C>T (p.His106Tyr) c.568C>T (p.His190Tyr) | |
| 6 | g.73638478G>C | CA364716861 | SLC17A5 | c.547C>G (p.His183Asp) n.313C>G c.496C>G (p.His166Asp) c.349C>G (p.His117Asp) c.316C>G (p.His106Asp) c.568C>G (p.His190Asp) | |
| 6 | g.73638478G= | CA1638220462 | SLC17A5 | c.547C= (p.His183=) n.313C= c.496C= (p.His166=) c.349C= (p.His117=) c.316C= (p.His106=) c.568C= (p.His190=) | |
| 6 | g.73638478G>T | CA364716862 | SLC17A5 | c.547C>A (p.His183Asn) n.313C>A c.496C>A (p.His166Asn) c.349C>A (p.His117Asn) c.316C>A (p.His106Asn) c.568C>A (p.His190Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.73638479C>A | CA3890507 | SLC17A5 | c.546G>T (p.Met182Ile) n.312G>T c.495G>T (p.Met165Ile) c.348G>T (p.Met116Ile) c.315G>T (p.Met105Ile) c.567G>T (p.Met189Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73638479C= | CA1638220465 | SLC17A5 | c.546G= (p.Met182=) n.312G= c.495G= (p.Met165=) c.348G= (p.Met116=) c.315G= (p.Met105=) c.567G= (p.Met189=) | |
| 6 | g.73638479C>G | CA364716864 | SLC17A5 | c.546G>C (p.Met182Ile) n.312G>C c.495G>C (p.Met165Ile) c.348G>C (p.Met116Ile) c.315G>C (p.Met105Ile) c.567G>C (p.Met189Ile) | |
| 6 | g.73638479C>T | CA140973816 | SLC17A5 | c.546G>A (p.Met182Ile) n.312G>A c.495G>A (p.Met165Ile) c.348G>A (p.Met116Ile) c.315G>A (p.Met105Ile) c.567G>A (p.Met189Ile) | dbSNP gnomAD v4 |
| 6 | g.73638480A= | CA1638220468 | SLC17A5 | c.545T= (p.Met182=) n.311T= c.494T= (p.Met165=) c.347T= (p.Met116=) c.314T= (p.Met105=) c.566T= (p.Met189=) | |
| 6 | g.73638480A>C | CA364716867 | SLC17A5 | c.545T>G (p.Met182Arg) n.311T>G c.494T>G (p.Met165Arg) c.347T>G (p.Met116Arg) c.314T>G (p.Met105Arg) c.566T>G (p.Met189Arg) | |
| 6 | g.73638480A>G | CA364716869 | SLC17A5 | c.545T>C (p.Met182Thr) n.311T>C c.494T>C (p.Met165Thr) c.347T>C (p.Met116Thr) c.314T>C (p.Met105Thr) c.566T>C (p.Met189Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73638480A>T | CA364716874 | SLC17A5 | c.545T>A (p.Met182Lys) n.311T>A c.494T>A (p.Met165Lys) c.347T>A (p.Met116Lys) c.314T>A (p.Met105Lys) c.566T>A (p.Met189Lys) | |
| 6 | g.73638481T>A | CA364716880 | SLC17A5 | c.544A>T (p.Met182Leu) n.310A>T c.493A>T (p.Met165Leu) c.346A>T (p.Met116Leu) c.313A>T (p.Met105Leu) c.565A>T (p.Met189Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73638481T>C | CA364716875 | SLC17A5 | c.544A>G (p.Met182Val) n.310A>G c.493A>G (p.Met165Val) c.346A>G (p.Met116Val) c.313A>G (p.Met105Val) c.565A>G (p.Met189Val) | gnomAD v4 |
| 6 | g.73638481T>G | CA364716879 | SLC17A5 | c.544A>C (p.Met182Leu) n.310A>C c.493A>C (p.Met165Leu) c.346A>C (p.Met116Leu) c.313A>C (p.Met105Leu) c.565A>C (p.Met189Leu) | |
| 6 | g.73638481T= | CA1638220470 | SLC17A5 | c.544A= (p.Met182=) n.310A= c.493A= (p.Met165=) c.346A= (p.Met116=) c.313A= (p.Met105=) c.565A= (p.Met189=) | |
| 6 | g.73638482G>A | CA450912044 | SLC17A5 | c.543C>T (p.Ala181=) n.309C>T c.492C>T (p.Ala164=) c.345C>T (p.Ala115=) c.312C>T (p.Ala104=) c.564C>T (p.Ala188=) | |
| 6 | g.73638482G>C | CA450912045 | SLC17A5 | c.543C>G (p.Ala181=) n.309C>G c.492C>G (p.Ala164=) c.345C>G (p.Ala115=) c.312C>G (p.Ala104=) c.564C>G (p.Ala188=) | |
| 6 | g.73638482G>T | CA450912046 | SLC17A5 | c.543C>A (p.Ala181=) n.309C>A c.492C>A (p.Ala164=) c.345C>A (p.Ala115=) c.312C>A (p.Ala104=) c.564C>A (p.Ala188=) | |
| 6 | g.73638483dup | CA2679404739 | SLC17A5 | c.543dup (p.Met182HisfsTer13) n.309dup c.492dup (p.Met165HisfsTer13) c.345dup (p.Met116HisfsTer13) c.312dup (p.Met105HisfsTer13) c.564dup (p.Met189HisfsTer13) | gnomAD v4 |
| 6 | g.73638483G>A | CA364716881 | SLC17A5 | c.542C>T (p.Ala181Val) n.308C>T c.491C>T (p.Ala164Val) c.344C>T (p.Ala115Val) c.311C>T (p.Ala104Val) c.563C>T (p.Ala188Val) | |
| 6 | g.73638483G>C | CA364716883 | SLC17A5 | c.542C>G (p.Ala181Gly) n.308C>G c.491C>G (p.Ala164Gly) c.344C>G (p.Ala115Gly) c.311C>G (p.Ala104Gly) c.563C>G (p.Ala188Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73638483G= | CA1638220472 | SLC17A5 | c.542C= (p.Ala181=) n.308C= c.491C= (p.Ala164=) c.344C= (p.Ala115=) c.311C= (p.Ala104=) c.563C= (p.Ala188=) | |
| 6 | g.73638483G>T | CA364716888 | SLC17A5 | c.542C>A (p.Ala181Asp) n.308C>A c.491C>A (p.Ala164Asp) c.344C>A (p.Ala115Asp) c.311C>A (p.Ala104Asp) c.563C>A (p.Ala188Asp) | |
| 6 | g.73638484C>A | CA364716890 | SLC17A5 | c.541G>T (p.Ala181Ser) n.307G>T c.490G>T (p.Ala164Ser) c.343G>T (p.Ala115Ser) c.310G>T (p.Ala104Ser) c.562G>T (p.Ala188Ser) | |
| 6 | g.73638484C= | CA1638220476 | SLC17A5 | c.541G= (p.Ala181=) n.307G= c.490G= (p.Ala164=) c.343G= (p.Ala115=) c.310G= (p.Ala104=) c.562G= (p.Ala188=) | |
| 6 | g.73638484C>G | CA364716894 | SLC17A5 | c.541G>C (p.Ala181Pro) n.307G>C c.490G>C (p.Ala164Pro) c.343G>C (p.Ala115Pro) c.310G>C (p.Ala104Pro) c.562G>C (p.Ala188Pro) | |
| 6 | g.73638484C>T | CA364716897 | SLC17A5 | c.541G>A (p.Ala181Thr) n.307G>A c.490G>A (p.Ala164Thr) c.343G>A (p.Ala115Thr) c.310G>A (p.Ala104Thr) c.562G>A (p.Ala188Thr) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.73638485T>A | CA450912047 | SLC17A5 | c.540A>T (p.Pro180=) n.306A>T c.489A>T (p.Pro163=) c.342A>T (p.Pro114=) c.309A>T (p.Pro103=) c.561A>T (p.Pro187=) | |
| 6 | g.73638485T>C | CA450912048 | SLC17A5 | c.540A>G (p.Pro180=) n.306A>G c.489A>G (p.Pro163=) c.342A>G (p.Pro114=) c.309A>G (p.Pro103=) c.561A>G (p.Pro187=) | |
| 6 | g.73638485T>G | CA450912049 | SLC17A5 | c.540A>C (p.Pro180=) n.306A>C c.489A>C (p.Pro163=) c.342A>C (p.Pro114=) c.309A>C (p.Pro103=) c.561A>C (p.Pro187=) | |
| 6 | g.73638486G>A | CA364716899 | SLC17A5 | c.539C>T (p.Pro180Leu) n.305C>T c.488C>T (p.Pro163Leu) c.341C>T (p.Pro114Leu) c.308C>T (p.Pro103Leu) c.560C>T (p.Pro187Leu) | |
| 6 | g.73638486G>C | CA364716900 | SLC17A5 | c.539C>G (p.Pro180Arg) n.305C>G c.488C>G (p.Pro163Arg) c.341C>G (p.Pro114Arg) c.308C>G (p.Pro103Arg) c.560C>G (p.Pro187Arg) | |
| 6 | g.73638486G>T | CA364716901 | SLC17A5 | c.539C>A (p.Pro180Gln) n.305C>A c.488C>A (p.Pro163Gln) c.341C>A (p.Pro114Gln) c.308C>A (p.Pro103Gln) c.560C>A (p.Pro187Gln) | |
| 6 | g.73638487G>A | CA364716903 | SLC17A5 | c.538C>T (p.Pro180Ser) n.304C>T c.487C>T (p.Pro163Ser) c.340C>T (p.Pro114Ser) c.307C>T (p.Pro103Ser) c.559C>T (p.Pro187Ser) | COSMIC |
| 6 | g.73638487G>C | CA364716905 | SLC17A5 | c.538C>G (p.Pro180Ala) n.304C>G c.487C>G (p.Pro163Ala) c.340C>G (p.Pro114Ala) c.307C>G (p.Pro103Ala) c.559C>G (p.Pro187Ala) | gnomAD v4 |
| 6 | g.73638487G>T | CA364716909 | SLC17A5 | c.538C>A (p.Pro180Thr) n.304C>A c.487C>A (p.Pro163Thr) c.340C>A (p.Pro114Thr) c.307C>A (p.Pro103Thr) c.559C>A (p.Pro187Thr) | |
| 6 | g.73638488A>C | CA364716912 | SLC17A5 | c.537T>G (p.Phe179Leu) n.303T>G c.486T>G (p.Phe162Leu) c.339T>G (p.Phe113Leu) c.306T>G (p.Phe102Leu) c.558T>G (p.Phe186Leu) | |
| 6 | g.73638488A>G | CA450912050 | SLC17A5 | c.537T>C (p.Phe179=) n.303T>C c.486T>C (p.Phe162=) c.339T>C (p.Phe113=) c.306T>C (p.Phe102=) c.558T>C (p.Phe186=) | |
| 6 | g.73638488A>T | CA364716913 | SLC17A5 | c.537T>A (p.Phe179Leu) n.303T>A c.486T>A (p.Phe162Leu) c.339T>A (p.Phe113Leu) c.306T>A (p.Phe102Leu) c.558T>A (p.Phe186Leu) | |
| 6 | g.73638489A>C | CA364716916 | SLC17A5 | c.536T>G (p.Phe179Cys) n.302T>G c.485T>G (p.Phe162Cys) c.338T>G (p.Phe113Cys) c.305T>G (p.Phe102Cys) c.557T>G (p.Phe186Cys) | |
| 6 | g.73638489A>G | CA364716918 | SLC17A5 | c.536T>C (p.Phe179Ser) n.302T>C c.485T>C (p.Phe162Ser) c.338T>C (p.Phe113Ser) c.305T>C (p.Phe102Ser) c.557T>C (p.Phe186Ser) | |
| 6 | g.73638489A>T | CA364716921 | SLC17A5 | c.536T>A (p.Phe179Tyr) n.302T>A c.485T>A (p.Phe162Tyr) c.338T>A (p.Phe113Tyr) c.305T>A (p.Phe102Tyr) c.557T>A (p.Phe186Tyr) | |
| 6 | g.73638490A>C | CA364716924 | SLC17A5 | c.535T>G (p.Phe179Val) n.301T>G c.484T>G (p.Phe162Val) c.337T>G (p.Phe113Val) c.304T>G (p.Phe102Val) c.556T>G (p.Phe186Val) | |
| 6 | g.73638490A>G | CA364716926 | SLC17A5 | c.535T>C (p.Phe179Leu) n.301T>C c.484T>C (p.Phe162Leu) c.337T>C (p.Phe113Leu) c.304T>C (p.Phe102Leu) c.556T>C (p.Phe186Leu) | gnomAD v4 |
| 6 | g.73638490A>T | CA364716928 | SLC17A5 | c.535T>A (p.Phe179Ile) n.301T>A c.484T>A (p.Phe162Ile) c.337T>A (p.Phe113Ile) c.304T>A (p.Phe102Ile) c.556T>A (p.Phe186Ile) | |
| 6 | g.73638491T>A | CA450912051 | SLC17A5 | c.534A>T (p.Thr178=) n.300A>T c.483A>T (p.Thr161=) c.336A>T (p.Thr112=) c.303A>T (p.Thr101=) c.555A>T (p.Thr185=) | |
| 6 | g.73638491T>C | CA450912052 | SLC17A5 | c.534A>G (p.Thr178=) n.300A>G c.483A>G (p.Thr161=) c.336A>G (p.Thr112=) c.303A>G (p.Thr101=) c.555A>G (p.Thr185=) | gnomAD v4 |
| 6 | g.73638491T>G | CA450912053 | SLC17A5 | c.534A>C (p.Thr178=) n.300A>C c.483A>C (p.Thr161=) c.336A>C (p.Thr112=) c.303A>C (p.Thr101=) c.555A>C (p.Thr185=) | |
| 6 | g.73638491_73638492delinsTG | CA1638220480 | SLC17A5 | c.533_534delinsCA (p.Thr178=) n.299_300delinsCA c.482_483delinsCA (p.Thr161=) c.335_336delinsCA (p.Thr112=) c.302_303delinsCA (p.Thr101=) c.554_555delinsCA (p.Thr185=) | |
| 6 | g.73638492del | CA234945 | SLC17A5 | c.533del (p.Thr178AsnfsTer?) n.299del c.482del (p.Thr161AsnfsTer?) c.335del (p.Thr112AsnfsTer?) c.302del (p.Thr101AsnfsTer?) c.554del (p.Thr185AsnfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73638492G>A | CA364716931 | SLC17A5 | c.533C>T (p.Thr178Ile) n.299C>T c.482C>T (p.Thr161Ile) c.335C>T (p.Thr112Ile) c.302C>T (p.Thr101Ile) c.554C>T (p.Thr185Ile) | |
| 6 | g.73638492G>C | CA364716932 | SLC17A5 | c.533C>G (p.Thr178Arg) n.299C>G c.482C>G (p.Thr161Arg) c.335C>G (p.Thr112Arg) c.302C>G (p.Thr101Arg) c.554C>G (p.Thr185Arg) | gnomAD v4 |
| 6 | g.73638492G= | CA1638220488 | SLC17A5 | c.533C= (p.Thr178=) n.299C= c.482C= (p.Thr161=) c.335C= (p.Thr112=) c.302C= (p.Thr101=) c.554C= (p.Thr185=) | |
| 6 | g.73638492G>T | CA364716933 | SLC17A5 | c.533C>A (p.Thr178Lys) n.299C>A c.482C>A (p.Thr161Lys) c.335C>A (p.Thr112Lys) c.302C>A (p.Thr101Lys) c.554C>A (p.Thr185Lys) | dbSNP gnomAD v4 |
| 6 | g.73638493del | CA364716936 | SLC17A5 | c.532del (p.Thr178HisfsTer?) n.298del c.481del (p.Thr161HisfsTer?) c.334del (p.Thr112HisfsTer?) c.301del (p.Thr101HisfsTer?) c.553del (p.Thr185HisfsTer?) | |
| 6 | g.73638493T>A | CA364716940 | SLC17A5 | c.532A>T (p.Thr178Ser) n.298A>T c.481A>T (p.Thr161Ser) c.334A>T (p.Thr112Ser) c.301A>T (p.Thr101Ser) c.553A>T (p.Thr185Ser) | |
| 6 | g.73638493T>C | CA140973834 | SLC17A5 | c.532A>G (p.Thr178Ala) n.298A>G c.481A>G (p.Thr161Ala) c.334A>G (p.Thr112Ala) c.301A>G (p.Thr101Ala) c.553A>G (p.Thr185Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73638493T>G | CA3890508 | SLC17A5 | c.532A>C (p.Thr178Pro) n.298A>C c.481A>C (p.Thr161Pro) c.334A>C (p.Thr112Pro) c.301A>C (p.Thr101Pro) c.553A>C (p.Thr185Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73638493T= | CA1638220495 | SLC17A5 | c.532A= (p.Thr178=) n.298A= c.481A= (p.Thr161=) c.334A= (p.Thr112=) c.301A= (p.Thr101=) c.553A= (p.Thr185=) | |
| 6 | g.73638493dup | CA1638220493 | SLC17A5 | c.532dup (p.Thr178AsnfsTer17) n.298dup c.481dup (p.Thr161AsnfsTer17) c.334dup (p.Thr112AsnfsTer17) c.301dup (p.Thr101AsnfsTer17) c.553dup (p.Thr185AsnfsTer17) | ClinVar dbSNP gnomAD v4 |
| 6 | g.73638493_73638494delinsTA | CA1638220497 | SLC17A5 | c.531_532delinsTA (p.Val177=) n.297_298delinsTA c.480_481delinsTA (p.Val160=) c.333_334delinsTA (p.Val111=) c.300_301delinsTA (p.Val100=) c.552_553delinsTA (p.Val184=) | |
| 6 | g.73638494A>C | CA450912056 | SLC17A5 | c.531T>G (p.Val177=) n.297T>G c.480T>G (p.Val160=) c.333T>G (p.Val111=) c.300T>G (p.Val100=) c.552T>G (p.Val184=) | |
| 6 | g.73638494A>G | CA450912055 | SLC17A5 | c.531T>C (p.Val177=) n.297T>C c.480T>C (p.Val160=) c.333T>C (p.Val111=) c.300T>C (p.Val100=) c.552T>C (p.Val184=) | |
| 6 | g.73638494A>T | CA450912054 | SLC17A5 | c.531T>A (p.Val177=) n.297T>A c.480T>A (p.Val160=) c.333T>A (p.Val111=) c.300T>A (p.Val100=) c.552T>A (p.Val184=) | ClinVar |
| 6 | g.73638495del | CA827973618 | SLC17A5 | c.531del (p.Thr178HisfsTer?) n.297del c.480del (p.Thr161HisfsTer?) c.333del (p.Thr112HisfsTer?) c.300del (p.Thr101HisfsTer?) c.552del (p.Thr185HisfsTer?) | dbSNP |
| 6 | g.73638495A= | CA1638220501 | SLC17A5 | c.530T= (p.Val177=) n.296T= c.479T= (p.Val160=) c.332T= (p.Val111=) c.299T= (p.Val100=) c.551T= (p.Val184=) | |
| 6 | g.73638495A>C | CA364716941 | SLC17A5 | c.530T>G (p.Val177Gly) n.296T>G c.479T>G (p.Val160Gly) c.332T>G (p.Val111Gly) c.299T>G (p.Val100Gly) c.551T>G (p.Val184Gly) | |
| 6 | g.73638495A>G | CA364716942 | SLC17A5 | c.530T>C (p.Val177Ala) n.296T>C c.479T>C (p.Val160Ala) c.332T>C (p.Val111Ala) c.299T>C (p.Val100Ala) c.551T>C (p.Val184Ala) | dbSNP |
| 6 | g.73638495A>T | CA364716943 | SLC17A5 | c.530T>A (p.Val177Asp) n.296T>A c.479T>A (p.Val160Asp) c.332T>A (p.Val111Asp) c.299T>A (p.Val100Asp) c.551T>A (p.Val184Asp) | |
| 6 | g.73638496C>A | CA364716944 | SLC17A5 | c.529G>T (p.Val177Phe) n.295G>T c.478G>T (p.Val160Phe) c.331G>T (p.Val111Phe) c.298G>T (p.Val100Phe) c.550G>T (p.Val184Phe) | |
| 6 | g.73638496C= | CA1638220504 | SLC17A5 | c.529G= (p.Val177=) n.295G= c.478G= (p.Val160=) c.331G= (p.Val111=) c.298G= (p.Val100=) c.550G= (p.Val184=) | |
| 6 | g.73638496C>G | CA364716945 | SLC17A5 | c.529G>C (p.Val177Leu) n.295G>C c.478G>C (p.Val160Leu) c.331G>C (p.Val111Leu) c.298G>C (p.Val100Leu) c.550G>C (p.Val184Leu) | |
| 6 | g.73638496C>T | CA140973838 | SLC17A5 | c.529G>A (p.Val177Ile) n.295G>A c.478G>A (p.Val160Ile) c.331G>A (p.Val111Ile) c.298G>A (p.Val100Ile) c.550G>A (p.Val184Ile) | ClinVar dbSNP gnomAD v4 |
| 6 | g.73638497A>C | CA450912057 | SLC17A5 | c.528T>G (p.Gly176=) n.294T>G c.477T>G (p.Gly159=) c.330T>G (p.Gly110=) c.297T>G (p.Gly99=) c.549T>G (p.Gly183=) | |
| 6 | g.73638497A>G | CA450912058 | SLC17A5 | c.528T>C (p.Gly176=) n.294T>C c.477T>C (p.Gly159=) c.330T>C (p.Gly110=) c.297T>C (p.Gly99=) c.549T>C (p.Gly183=) | |
| 6 | g.73638497A>T | CA450912059 | SLC17A5 | c.528T>A (p.Gly176=) n.294T>A c.477T>A (p.Gly159=) c.330T>A (p.Gly110=) c.297T>A (p.Gly99=) c.549T>A (p.Gly183=) | |
| 6 | g.73638498C>A | CA364716946 | SLC17A5 | c.527G>T (p.Gly176Val) n.293G>T c.476G>T (p.Gly159Val) c.329G>T (p.Gly110Val) c.296G>T (p.Gly99Val) c.548G>T (p.Gly183Val) | ClinVar gnomAD v4 |
| 6 | g.73638498C>G | CA364716948 | SLC17A5 | c.527G>C (p.Gly176Ala) n.293G>C c.476G>C (p.Gly159Ala) c.329G>C (p.Gly110Ala) c.296G>C (p.Gly99Ala) c.548G>C (p.Gly183Ala) | |
| 6 | g.73638498C>T | CA364716950 | SLC17A5 | c.527G>A (p.Gly176Asp) n.293G>A c.476G>A (p.Gly159Asp) c.329G>A (p.Gly110Asp) c.296G>A (p.Gly99Asp) c.548G>A (p.Gly183Asp) | |
| 6 | g.73638500del | CA2573320611 | SLC17A5 | c.527del n.293del c.476del c.329del c.296del c.548del | |
| 6 | g.73638499C>A | CA364716955 | SLC17A5 | c.526G>T (p.Gly176Cys) n.292G>T c.475G>T (p.Gly159Cys) c.328G>T (p.Gly110Cys) c.295G>T (p.Gly99Cys) c.547G>T (p.Gly183Cys) | |
| 6 | g.73638499C>G | CA364716957 | SLC17A5 | c.526G>C (p.Gly176Arg) n.292G>C c.475G>C (p.Gly159Arg) c.328G>C (p.Gly110Arg) c.295G>C (p.Gly99Arg) c.547G>C (p.Gly183Arg) | |
| 6 | g.73638499C>T | CA364716958 | SLC17A5 | c.526G>A (p.Gly176Ser) n.292G>A c.475G>A (p.Gly159Ser) c.328G>A (p.Gly110Ser) c.295G>A (p.Gly99Ser) c.547G>A (p.Gly183Ser) | gnomAD v4 |
| 6 | g.73638500C>A | CA364716966 | SLC17A5 | c.526-1G>T (n.526-1G>T) n.292-1G>T c.475-1G>T (n.475-1G>T) c.328-1G>T (n.328-1G>T) c.295-1G>T (n.295-1G>T) c.547-1G>T (n.547-1G>T) | |
| 6 | g.73638500C>G | CA364716964 | SLC17A5 | c.526-1G>C (n.526-1G>C) n.292-1G>C c.475-1G>C (n.475-1G>C) c.328-1G>C (n.328-1G>C) c.295-1G>C (n.295-1G>C) c.547-1G>C (n.547-1G>C) | gnomAD v4 |
| 6 | g.73638500C>T | CA364716962 | SLC17A5 | c.526-1G>A (n.526-1G>A) n.292-1G>A c.475-1G>A (n.475-1G>A) c.328-1G>A (n.328-1G>A) c.295-1G>A (n.295-1G>A) c.547-1G>A (n.547-1G>A) | |
| 6 | g.73638501T>A | CA364716968 | SLC17A5 | c.526-2A>T (n.526-2A>T) n.292-2A>T c.475-2A>T (n.475-2A>T) c.328-2A>T (n.328-2A>T) c.295-2A>T (n.295-2A>T) c.547-2A>T (n.547-2A>T) | |
| 6 | g.73638501T>C | CA364716971 | SLC17A5 | c.526-2A>G (n.526-2A>G) n.292-2A>G c.475-2A>G (n.475-2A>G) c.328-2A>G (n.328-2A>G) c.295-2A>G (n.295-2A>G) c.547-2A>G (n.547-2A>G) | ClinVar dbSNP gnomAD v4 |
| 6 | g.73638501T>G | CA364716970 | SLC17A5 | c.526-2A>C (n.526-2A>C) n.292-2A>C c.475-2A>C (n.475-2A>C) c.328-2A>C (n.328-2A>C) c.295-2A>C (n.295-2A>C) c.547-2A>C (n.547-2A>C) | |
| 6 | g.73638501T= | CA1638220507 | SLC17A5 | c.526-2A= (n.526-2A=) n.292-2A= c.475-2A= (n.475-2A=) c.328-2A= (n.328-2A=) c.295-2A= (n.295-2A=) c.547-2A= (n.547-2A=) | |
| 6 | g.73638501_73638503delinsTGA | CA1638220511 | SLC17A5 | c.526-4_526-2delinsTCA (n.526-4_526-2delinsTCA) n.292-4_292-2delinsTCA c.475-4_475-2delinsTCA (n.475-4_475-2delinsTCA) c.328-4_328-2delinsTCA (n.328-4_328-2delinsTCA) c.295-4_295-2delinsTCA (n.295-4_295-2delinsTCA) c.547-4_547-2delinsTCA (n.547-4_547-2delinsTCA) | |
| 6 | g.73638502G>A | CA827973637 | SLC17A5 | c.526-3C>T (n.526-3C>T) n.292-3C>T c.475-3C>T (n.475-3C>T) c.328-3C>T (n.328-3C>T) c.295-3C>T (n.295-3C>T) c.547-3C>T (n.547-3C>T) | dbSNP |
| 6 | g.73638502G= | CA1638220516 | SLC17A5 | c.526-3C= (n.526-3C=) n.292-3C= c.475-3C= (n.475-3C=) c.328-3C= (n.328-3C=) c.295-3C= (n.295-3C=) c.547-3C= (n.547-3C=) | |
| 6 | g.73638506_73638507del | CA450912060 | SLC17A5 | c.526-4_526-3del (n.526-4_526-3del) n.292-4_292-3del c.475-4_475-3del (n.475-4_475-3del) c.328-4_328-3del (n.328-4_328-3del) c.295-4_295-3del (n.295-4_295-3del) c.547-4_547-3del (n.547-4_547-3del) | ClinVar dbSNP gnomAD v4 |
| 6 | g.73638503A= | CA1638220519 | SLC17A5 | c.526-4T= (n.526-4T=) n.292-4T= c.475-4T= (n.475-4T=) c.328-4T= (n.328-4T=) c.295-4T= (n.295-4T=) c.547-4T= (n.547-4T=) | |
| 6 | g.73638503A>T | CA3890509 | SLC17A5 | c.526-4T>A (n.526-4T>A) n.292-4T>A c.475-4T>A (n.475-4T>A) c.328-4T>A (n.328-4T>A) c.295-4T>A (n.295-4T>A) c.547-4T>A (n.547-4T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73638504G>A | CA3890510 | SLC17A5 | c.526-5C>T (n.526-5C>T) n.292-5C>T c.475-5C>T (n.475-5C>T) c.328-5C>T (n.328-5C>T) c.295-5C>T (n.295-5C>T) c.547-5C>T (n.547-5C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73638504G= | CA1638220523 | SLC17A5 | c.526-5C= (n.526-5C=) n.292-5C= c.475-5C= (n.475-5C=) c.328-5C= (n.328-5C=) c.295-5C= (n.295-5C=) c.547-5C= (n.547-5C=) | |
| 6 | g.73638506G>A | CA1638220528 | SLC17A5 | c.526-7C>T (n.526-7C>T) n.292-7C>T c.475-7C>T (n.475-7C>T) c.328-7C>T (n.328-7C>T) c.295-7C>T (n.295-7C>T) c.547-7C>T (n.547-7C>T) | dbSNP |
| 6 | g.73638506G= | CA1638220527 | SLC17A5 | c.526-7C= (n.526-7C=) n.292-7C= c.475-7C= (n.475-7C=) c.328-7C= (n.328-7C=) c.295-7C= (n.295-7C=) c.547-7C= (n.547-7C=) | |
| 6 | g.73638506G>T | CA2679404740 | SLC17A5 | c.526-7C>A (n.526-7C>A) n.292-7C>A c.475-7C>A (n.475-7C>A) c.328-7C>A (n.328-7C>A) c.295-7C>A (n.295-7C>A) c.547-7C>A (n.547-7C>A) | gnomAD v4 |
| 6 | g.73638508A= | CA1638220530 | SLC17A5 | c.526-9T= (n.526-9T=) n.292-9T= c.475-9T= (n.475-9T=) c.328-9T= (n.328-9T=) c.295-9T= (n.295-9T=) c.547-9T= (n.547-9T=) | |
| 6 | g.73638508A>C | CA567686725 | SLC17A5 | c.526-9T>G (n.526-9T>G) n.292-9T>G c.475-9T>G (n.475-9T>G) c.328-9T>G (n.328-9T>G) c.295-9T>G (n.295-9T>G) c.547-9T>G (n.547-9T>G) | dbSNP gnomAD v2 |
| 6 | g.73638509G>A | CA2697553548 | SLC17A5 | c.526-10C>T (n.526-10C>T) n.292-10C>T c.475-10C>T (n.475-10C>T) c.328-10C>T (n.328-10C>T) c.295-10C>T (n.295-10C>T) c.547-10C>T (n.547-10C>T) | ClinVar |
| 6 | g.73638510G>A | CA2578669807 | SLC17A5 | c.526-11C>T (n.526-11C>T) n.292-11C>T c.475-11C>T (n.475-11C>T) c.328-11C>T (n.328-11C>T) c.295-11C>T (n.295-11C>T) c.547-11C>T (n.547-11C>T) | dbSNP gnomAD v4 |
| 6 | g.73638511G>A | CA2679404741 | SLC17A5 | c.526-12C>T (n.526-12C>T) n.292-12C>T c.475-12C>T (n.475-12C>T) c.328-12C>T (n.328-12C>T) c.295-12C>T (n.295-12C>T) c.547-12C>T (n.547-12C>T) | gnomAD v4 |
| 6 | g.73638511G>C | CA140973845 | SLC17A5 | c.526-12C>G (n.526-12C>G) n.292-12C>G c.475-12C>G (n.475-12C>G) c.328-12C>G (n.328-12C>G) c.295-12C>G (n.295-12C>G) c.547-12C>G (n.547-12C>G) | dbSNP |
| 6 | g.73638511G= | CA1638220534 | SLC17A5 | c.526-12C= (n.526-12C=) n.292-12C= c.475-12C= (n.475-12C=) c.328-12C= (n.328-12C=) c.295-12C= (n.295-12C=) c.547-12C= (n.547-12C=) | |
| 6 | g.73638511G>T | CA2679404742 | SLC17A5 | c.526-12C>A (n.526-12C>A) n.292-12C>A c.475-12C>A (n.475-12C>A) c.328-12C>A (n.328-12C>A) c.295-12C>A (n.295-12C>A) c.547-12C>A (n.547-12C>A) | gnomAD v4 |