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.73621906C>A | CA364713631 | SLC17A5 | c.876G>T (p.Trp292Cys) c.825G>T (p.Trp275Cys) c.678G>T (p.Trp226Cys) c.645G>T (p.Trp215Cys) c.897G>T (p.Trp299Cys) c.789G>T (p.Trp263Cys) c.820-6459G>T (n.820-6459G>T) c.873G>T (p.Trp291Cys) c.558G>T (p.Trp186Cys) | |
| 6 | g.73621906C>G | CA364713634 | SLC17A5 | c.876G>C (p.Trp292Cys) c.825G>C (p.Trp275Cys) c.678G>C (p.Trp226Cys) c.645G>C (p.Trp215Cys) c.897G>C (p.Trp299Cys) c.789G>C (p.Trp263Cys) c.820-6459G>C (n.820-6459G>C) c.873G>C (p.Trp291Cys) c.558G>C (p.Trp186Cys) | |
| 6 | g.73621906C>T | CA364713636 | SLC17A5 | c.876G>A (p.Trp292Ter) c.825G>A (p.Trp275Ter) c.678G>A (p.Trp226Ter) c.645G>A (p.Trp215Ter) c.897G>A (p.Trp299Ter) c.789G>A (p.Trp263Ter) c.820-6459G>A (n.820-6459G>A) c.873G>A (p.Trp291Ter) c.558G>A (p.Trp186Ter) | |
| 6 | g.73621907C>A | CA364713641 | SLC17A5 | c.875G>T (p.Trp292Leu) c.824G>T (p.Trp275Leu) c.677G>T (p.Trp226Leu) c.644G>T (p.Trp215Leu) c.896G>T (p.Trp299Leu) c.788G>T (p.Trp263Leu) c.820-6460G>T (n.820-6460G>T) c.872G>T (p.Trp291Leu) c.557G>T (p.Trp186Leu) | |
| 6 | g.73621907C>G | CA364713643 | SLC17A5 | c.875G>C (p.Trp292Ser) c.824G>C (p.Trp275Ser) c.677G>C (p.Trp226Ser) c.644G>C (p.Trp215Ser) c.896G>C (p.Trp299Ser) c.788G>C (p.Trp263Ser) c.820-6460G>C (n.820-6460G>C) c.872G>C (p.Trp291Ser) c.557G>C (p.Trp186Ser) | |
| 6 | g.73621907C>T | CA364713639 | SLC17A5 | c.875G>A (p.Trp292Ter) c.824G>A (p.Trp275Ter) c.677G>A (p.Trp226Ter) c.644G>A (p.Trp215Ter) c.896G>A (p.Trp299Ter) c.788G>A (p.Trp263Ter) c.820-6460G>A (n.820-6460G>A) c.872G>A (p.Trp291Ter) c.557G>A (p.Trp186Ter) | gnomAD v4 |
| 6 | g.73621908A>C | CA364713646 | SLC17A5 | c.874T>G (p.Trp292Gly) c.823T>G (p.Trp275Gly) c.676T>G (p.Trp226Gly) c.643T>G (p.Trp215Gly) c.895T>G (p.Trp299Gly) c.787T>G (p.Trp263Gly) c.820-6461T>G (n.820-6461T>G) c.871T>G (p.Trp291Gly) c.556T>G (p.Trp186Gly) | |
| 6 | g.73621908A>G | CA364713647 | SLC17A5 | c.874T>C (p.Trp292Arg) c.823T>C (p.Trp275Arg) c.676T>C (p.Trp226Arg) c.643T>C (p.Trp215Arg) c.895T>C (p.Trp299Arg) c.787T>C (p.Trp263Arg) c.820-6461T>C (n.820-6461T>C) c.871T>C (p.Trp291Arg) c.556T>C (p.Trp186Arg) | dbSNP |
| 6 | g.73621908A>T | CA364713648 | SLC17A5 | c.874T>A (p.Trp292Arg) c.823T>A (p.Trp275Arg) c.676T>A (p.Trp226Arg) c.643T>A (p.Trp215Arg) c.895T>A (p.Trp299Arg) c.787T>A (p.Trp263Arg) c.820-6461T>A (n.820-6461T>A) c.871T>A (p.Trp291Arg) c.556T>A (p.Trp186Arg) | |
| 6 | g.73621909A= | CA1638234803 | SLC17A5 | c.873T= (p.Leu291=) c.822T= (p.Leu274=) c.675T= (p.Leu225=) c.642T= (p.Leu214=) c.894T= (p.Leu298=) c.786T= (p.Leu262=) c.820-6462T= (n.820-6462T=) c.870T= (p.Leu290=) c.555T= (p.Leu185=) | |
| 6 | g.73621909A>C | CA450910910 | SLC17A5 | c.873T>G (p.Leu291=) c.822T>G (p.Leu274=) c.675T>G (p.Leu225=) c.642T>G (p.Leu214=) c.894T>G (p.Leu298=) c.786T>G (p.Leu262=) c.820-6462T>G (n.820-6462T>G) c.870T>G (p.Leu290=) c.555T>G (p.Leu185=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73621909A>G | CA3890403 | SLC17A5 | c.873T>C (p.Leu291=) c.822T>C (p.Leu274=) c.675T>C (p.Leu225=) c.642T>C (p.Leu214=) c.894T>C (p.Leu298=) c.786T>C (p.Leu262=) c.820-6462T>C (n.820-6462T>C) c.870T>C (p.Leu290=) c.555T>C (p.Leu185=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73621909A>T | CA450910911 | SLC17A5 | c.873T>A (p.Leu291=) c.822T>A (p.Leu274=) c.675T>A (p.Leu225=) c.642T>A (p.Leu214=) c.894T>A (p.Leu298=) c.786T>A (p.Leu262=) c.820-6462T>A (n.820-6462T>A) c.870T>A (p.Leu290=) c.555T>A (p.Leu185=) | |
| 6 | g.73621910A= | CA1638234804 | SLC17A5 | c.872T= (p.Leu291=) c.821T= (p.Leu274=) c.674T= (p.Leu225=) c.641T= (p.Leu214=) c.893T= (p.Leu298=) c.785T= (p.Leu262=) c.820-6463T= (n.820-6463T=) c.869T= (p.Leu290=) c.554T= (p.Leu185=) | |
| 6 | g.73621910A>C | CA364713651 | SLC17A5 | c.872T>G (p.Leu291Arg) c.821T>G (p.Leu274Arg) c.674T>G (p.Leu225Arg) c.641T>G (p.Leu214Arg) c.893T>G (p.Leu298Arg) c.785T>G (p.Leu262Arg) c.820-6463T>G (n.820-6463T>G) c.869T>G (p.Leu290Arg) c.554T>G (p.Leu185Arg) | |
| 6 | g.73621910A>G | CA364713650 | SLC17A5 | c.872T>C (p.Leu291Pro) c.821T>C (p.Leu274Pro) c.674T>C (p.Leu225Pro) c.641T>C (p.Leu214Pro) c.893T>C (p.Leu298Pro) c.785T>C (p.Leu262Pro) c.820-6463T>C (n.820-6463T>C) c.869T>C (p.Leu290Pro) c.554T>C (p.Leu185Pro) | |
| 6 | g.73621910A>T | CA364713649 | SLC17A5 | c.872T>A (p.Leu291His) c.821T>A (p.Leu274His) c.674T>A (p.Leu225His) c.641T>A (p.Leu214His) c.893T>A (p.Leu298His) c.785T>A (p.Leu262His) c.820-6463T>A (n.820-6463T>A) c.869T>A (p.Leu290His) c.554T>A (p.Leu185His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73621911G>A | CA364713652 | SLC17A5 | c.871C>T (p.Leu291Phe) c.820C>T (p.Leu274Phe) c.673C>T (p.Leu225Phe) c.640C>T (p.Leu214Phe) c.892C>T (p.Leu298Phe) c.784C>T (p.Leu262Phe) c.820-6464C>T (n.820-6464C>T) c.868C>T (p.Leu290Phe) c.553C>T (p.Leu185Phe) | dbSNP |
| 6 | g.73621911G>C | CA364713653 | SLC17A5 | c.871C>G (p.Leu291Val) c.820C>G (p.Leu274Val) c.673C>G (p.Leu225Val) c.640C>G (p.Leu214Val) c.892C>G (p.Leu298Val) c.784C>G (p.Leu262Val) c.820-6464C>G (n.820-6464C>G) c.868C>G (p.Leu290Val) c.553C>G (p.Leu185Val) | |
| 6 | g.73621911G>T | CA364713654 | SLC17A5 | c.871C>A (p.Leu291Ile) c.820C>A (p.Leu274Ile) c.673C>A (p.Leu225Ile) c.640C>A (p.Leu214Ile) c.892C>A (p.Leu298Ile) c.784C>A (p.Leu262Ile) c.820-6464C>A (n.820-6464C>A) c.868C>A (p.Leu290Ile) c.553C>A (p.Leu185Ile) | |
| 6 | g.73621912T>A | CA450910912 | SLC17A5 | c.870A>T (p.Pro290=) c.819A>T (p.Pro273=) c.672A>T (p.Pro224=) c.639A>T (p.Pro213=) c.891A>T (p.Pro297=) c.783A>T (p.Pro261=) c.820-6465A>T (n.820-6465A>T) c.867A>T (p.Pro289=) c.552A>T (p.Pro184=) | |
| 6 | g.73621912T>C | CA450910913 | SLC17A5 | c.870A>G (p.Pro290=) c.819A>G (p.Pro273=) c.672A>G (p.Pro224=) c.639A>G (p.Pro213=) c.891A>G (p.Pro297=) c.783A>G (p.Pro261=) c.820-6465A>G (n.820-6465A>G) c.867A>G (p.Pro289=) c.552A>G (p.Pro184=) | |
| 6 | g.73621912T>G | CA450910914 | SLC17A5 | c.870A>C (p.Pro290=) c.819A>C (p.Pro273=) c.672A>C (p.Pro224=) c.639A>C (p.Pro213=) c.891A>C (p.Pro297=) c.783A>C (p.Pro261=) c.820-6465A>C (n.820-6465A>C) c.867A>C (p.Pro289=) c.552A>C (p.Pro184=) | |
| 6 | g.73621913G>A | CA364713655 | SLC17A5 | c.869C>T (p.Pro290Leu) c.818C>T (p.Pro273Leu) c.671C>T (p.Pro224Leu) c.638C>T (p.Pro213Leu) c.890C>T (p.Pro297Leu) c.782C>T (p.Pro261Leu) c.820-6466C>T (n.820-6466C>T) c.866C>T (p.Pro289Leu) c.551C>T (p.Pro184Leu) | |
| 6 | g.73621913G>C | CA364713656 | SLC17A5 | c.869C>G (p.Pro290Arg) c.818C>G (p.Pro273Arg) c.671C>G (p.Pro224Arg) c.638C>G (p.Pro213Arg) c.890C>G (p.Pro297Arg) c.782C>G (p.Pro261Arg) c.820-6466C>G (n.820-6466C>G) c.866C>G (p.Pro289Arg) c.551C>G (p.Pro184Arg) | |
| 6 | g.73621913G>T | CA364713657 | SLC17A5 | c.869C>A (p.Pro290Gln) c.818C>A (p.Pro273Gln) c.671C>A (p.Pro224Gln) c.638C>A (p.Pro213Gln) c.890C>A (p.Pro297Gln) c.782C>A (p.Pro261Gln) c.820-6466C>A (n.820-6466C>A) c.866C>A (p.Pro289Gln) c.551C>A (p.Pro184Gln) | |
| 6 | g.73621914G>A | CA364713658 | SLC17A5 | c.868C>T (p.Pro290Ser) c.817C>T (p.Pro273Ser) c.670C>T (p.Pro224Ser) c.637C>T (p.Pro213Ser) c.889C>T (p.Pro297Ser) c.781C>T (p.Pro261Ser) c.820-6467C>T (n.820-6467C>T) c.865C>T (p.Pro289Ser) c.550C>T (p.Pro184Ser) | |
| 6 | g.73621914G>C | CA364713660 | SLC17A5 | c.868C>G (p.Pro290Ala) c.817C>G (p.Pro273Ala) c.670C>G (p.Pro224Ala) c.637C>G (p.Pro213Ala) c.889C>G (p.Pro297Ala) c.781C>G (p.Pro261Ala) c.820-6467C>G (n.820-6467C>G) c.865C>G (p.Pro289Ala) c.550C>G (p.Pro184Ala) | |
| 6 | g.73621914G= | CA1638234805 | SLC17A5 | c.868C= (p.Pro290=) c.817C= (p.Pro273=) c.670C= (p.Pro224=) c.637C= (p.Pro213=) c.889C= (p.Pro297=) c.781C= (p.Pro261=) c.820-6467C= (n.820-6467C=) c.865C= (p.Pro289=) c.550C= (p.Pro184=) | |
| 6 | g.73621914G>T | CA364713659 | SLC17A5 | c.868C>A (p.Pro290Thr) c.817C>A (p.Pro273Thr) c.670C>A (p.Pro224Thr) c.637C>A (p.Pro213Thr) c.889C>A (p.Pro297Thr) c.781C>A (p.Pro261Thr) c.820-6467C>A (n.820-6467C>A) c.865C>A (p.Pro289Thr) c.550C>A (p.Pro184Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73621915C>A | CA450910915 | SLC17A5 | c.867G>T (p.Leu289=) c.816G>T (p.Leu272=) c.669G>T (p.Leu223=) c.636G>T (p.Leu212=) c.888G>T (p.Leu296=) c.780G>T (p.Leu260=) c.820-6468G>T (n.820-6468G>T) c.864G>T (p.Leu288=) c.549G>T (p.Leu183=) | |
| 6 | g.73621915C>G | CA450910916 | SLC17A5 | c.867G>C (p.Leu289=) c.816G>C (p.Leu272=) c.669G>C (p.Leu223=) c.636G>C (p.Leu212=) c.888G>C (p.Leu296=) c.780G>C (p.Leu260=) c.820-6468G>C (n.820-6468G>C) c.864G>C (p.Leu288=) c.549G>C (p.Leu183=) | |
| 6 | g.73621915C>T | CA450910917 | SLC17A5 | c.867G>A (p.Leu289=) c.816G>A (p.Leu272=) c.669G>A (p.Leu223=) c.636G>A (p.Leu212=) c.888G>A (p.Leu296=) c.780G>A (p.Leu260=) c.820-6468G>A (n.820-6468G>A) c.864G>A (p.Leu288=) c.549G>A (p.Leu183=) | ClinVar |
| 6 | g.73621916A= | CA1638234806 | SLC17A5 | c.866T= (p.Leu289=) c.815T= (p.Leu272=) c.668T= (p.Leu223=) c.635T= (p.Leu212=) c.887T= (p.Leu296=) c.779T= (p.Leu260=) c.820-6469T= (n.820-6469T=) c.863T= (p.Leu288=) c.548T= (p.Leu183=) | |
| 6 | g.73621916A>C | CA364713661 | SLC17A5 | c.866T>G (p.Leu289Arg) c.815T>G (p.Leu272Arg) c.668T>G (p.Leu223Arg) c.635T>G (p.Leu212Arg) c.887T>G (p.Leu296Arg) c.779T>G (p.Leu260Arg) c.820-6469T>G (n.820-6469T>G) c.863T>G (p.Leu288Arg) c.548T>G (p.Leu183Arg) | |
| 6 | g.73621916A>G | CA364713662 | SLC17A5 | c.866T>C (p.Leu289Pro) c.815T>C (p.Leu272Pro) c.668T>C (p.Leu223Pro) c.635T>C (p.Leu212Pro) c.887T>C (p.Leu296Pro) c.779T>C (p.Leu260Pro) c.820-6469T>C (n.820-6469T>C) c.863T>C (p.Leu288Pro) c.548T>C (p.Leu183Pro) | |
| 6 | g.73621916A>T | CA364713663 | SLC17A5 | c.866T>A (p.Leu289Gln) c.815T>A (p.Leu272Gln) c.668T>A (p.Leu223Gln) c.635T>A (p.Leu212Gln) c.887T>A (p.Leu296Gln) c.779T>A (p.Leu260Gln) c.820-6469T>A (n.820-6469T>A) c.863T>A (p.Leu288Gln) c.548T>A (p.Leu183Gln) | |
| 6 | g.73621917G>A | CA450910918 | SLC17A5 | c.865C>T (p.Leu289=) c.814C>T (p.Leu272=) c.667C>T (p.Leu223=) c.634C>T (p.Leu212=) c.886C>T (p.Leu296=) c.778C>T (p.Leu260=) c.820-6470C>T (n.820-6470C>T) c.862C>T (p.Leu288=) c.547C>T (p.Leu183=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73621917G>C | CA364713664 | SLC17A5 | c.865C>G (p.Leu289Val) c.814C>G (p.Leu272Val) c.667C>G (p.Leu223Val) c.634C>G (p.Leu212Val) c.886C>G (p.Leu296Val) c.778C>G (p.Leu260Val) c.820-6470C>G (n.820-6470C>G) c.862C>G (p.Leu288Val) c.547C>G (p.Leu183Val) | |
| 6 | g.73621917G= | CA1638234807 | SLC17A5 | c.865C= (p.Leu289=) c.814C= (p.Leu272=) c.667C= (p.Leu223=) c.634C= (p.Leu212=) c.886C= (p.Leu296=) c.778C= (p.Leu260=) c.820-6470C= (n.820-6470C=) c.862C= (p.Leu288=) c.547C= (p.Leu183=) | |
| 6 | g.73621917G>T | CA364713665 | SLC17A5 | c.865C>A (p.Leu289Met) c.814C>A (p.Leu272Met) c.667C>A (p.Leu223Met) c.634C>A (p.Leu212Met) c.886C>A (p.Leu296Met) c.778C>A (p.Leu260Met) c.820-6470C>A (n.820-6470C>A) c.862C>A (p.Leu288Met) c.547C>A (p.Leu183Met) | |
| 6 | g.73621919dup | CA140963227 | SLC17A5 | c.865dup (p.Leu289ProfsTer?) c.814dup (p.Leu272ProfsTer?) c.667dup (p.Leu223ProfsTer?) c.634dup (p.Leu212ProfsTer?) c.886dup (p.Leu296ProfsTer?) c.778dup (p.Leu260ProfsTer?) c.820-6470dup (n.820-6470dup) c.862dup (p.Leu288ProfsTer?) c.547dup (p.Leu183ProfsTer?) | dbSNP |
| 6 | g.73621918G>A | CA450910921 | SLC17A5 | c.864C>T (p.Ser288=) c.813C>T (p.Ser271=) c.666C>T (p.Ser222=) c.633C>T (p.Ser211=) c.885C>T (p.Ser295=) c.777C>T (p.Ser259=) c.820-6471C>T (n.820-6471C>T) c.861C>T (p.Ser287=) c.546C>T (p.Ser182=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73621918G>C | CA450910920 | SLC17A5 | c.864C>G (p.Ser288=) c.813C>G (p.Ser271=) c.666C>G (p.Ser222=) c.633C>G (p.Ser211=) c.885C>G (p.Ser295=) c.777C>G (p.Ser259=) c.820-6471C>G (n.820-6471C>G) c.861C>G (p.Ser287=) c.546C>G (p.Ser182=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.73621918G= | CA1638234808 | SLC17A5 | c.864C= (p.Ser288=) c.813C= (p.Ser271=) c.666C= (p.Ser222=) c.633C= (p.Ser211=) c.885C= (p.Ser295=) c.777C= (p.Ser259=) c.820-6471C= (n.820-6471C=) c.861C= (p.Ser287=) c.546C= (p.Ser182=) | |
| 6 | g.73621918G>T | CA450910919 | SLC17A5 | c.864C>A (p.Ser288=) c.813C>A (p.Ser271=) c.666C>A (p.Ser222=) c.633C>A (p.Ser211=) c.885C>A (p.Ser295=) c.777C>A (p.Ser259=) c.820-6471C>A (n.820-6471C>A) c.861C>A (p.Ser287=) c.546C>A (p.Ser182=) | ClinVar dbSNP |
| 6 | g.73621919G>A | CA3890404 | SLC17A5 | c.863C>T (p.Ser288Phe) c.812C>T (p.Ser271Phe) c.665C>T (p.Ser222Phe) c.632C>T (p.Ser211Phe) c.884C>T (p.Ser295Phe) c.776C>T (p.Ser259Phe) c.820-6472C>T (n.820-6472C>T) c.860C>T (p.Ser287Phe) c.545C>T (p.Ser182Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73621919G>C | CA364713666 | SLC17A5 | c.863C>G (p.Ser288Cys) c.812C>G (p.Ser271Cys) c.665C>G (p.Ser222Cys) c.632C>G (p.Ser211Cys) c.884C>G (p.Ser295Cys) c.776C>G (p.Ser259Cys) c.820-6472C>G (n.820-6472C>G) c.860C>G (p.Ser287Cys) c.545C>G (p.Ser182Cys) | |
| 6 | g.73621919G= | CA1638234809 | SLC17A5 | c.863C= (p.Ser288=) c.812C= (p.Ser271=) c.665C= (p.Ser222=) c.632C= (p.Ser211=) c.884C= (p.Ser295=) c.776C= (p.Ser259=) c.820-6472C= (n.820-6472C=) c.860C= (p.Ser287=) c.545C= (p.Ser182=) | |
| 6 | g.73621919G>T | CA364713667 | SLC17A5 | c.863C>A (p.Ser288Tyr) c.812C>A (p.Ser271Tyr) c.665C>A (p.Ser222Tyr) c.632C>A (p.Ser211Tyr) c.884C>A (p.Ser295Tyr) c.776C>A (p.Ser259Tyr) c.820-6472C>A (n.820-6472C>A) c.860C>A (p.Ser287Tyr) c.545C>A (p.Ser182Tyr) | |
| 6 | g.73621919_73621922dup | CA2573141128 | SLC17A5 | c.860_863dup (p.Leu289IlefsTer?) c.809_812dup (p.Leu272IlefsTer?) c.662_665dup (p.Leu223IlefsTer?) c.629_632dup (p.Leu212IlefsTer?) c.881_884dup (p.Leu296IlefsTer?) c.773_776dup (p.Leu260IlefsTer?) c.820-6475_820-6472dup (n.820-6475_820-6472dup) c.857_860dup (p.Leu288IlefsTer?) c.542_545dup (p.Leu183IlefsTer?) | ClinVar dbSNP |
| 6 | g.73621920A= | CA1638234810 | SLC17A5 | c.862T= (p.Ser288=) c.811T= (p.Ser271=) c.664T= (p.Ser222=) c.631T= (p.Ser211=) c.883T= (p.Ser295=) c.775T= (p.Ser259=) c.820-6473T= (n.820-6473T=) c.859T= (p.Ser287=) c.544T= (p.Ser182=) | |
| 6 | g.73621920A>C | CA364713668 | SLC17A5 | c.862T>G (p.Ser288Ala) c.811T>G (p.Ser271Ala) c.664T>G (p.Ser222Ala) c.631T>G (p.Ser211Ala) c.883T>G (p.Ser295Ala) c.775T>G (p.Ser259Ala) c.820-6473T>G (n.820-6473T>G) c.859T>G (p.Ser287Ala) c.544T>G (p.Ser182Ala) | |
| 6 | g.73621920A>G | CA3890405 | SLC17A5 | c.862T>C (p.Ser288Pro) c.811T>C (p.Ser271Pro) c.664T>C (p.Ser222Pro) c.631T>C (p.Ser211Pro) c.883T>C (p.Ser295Pro) c.775T>C (p.Ser259Pro) c.820-6473T>C (n.820-6473T>C) c.859T>C (p.Ser287Pro) c.544T>C (p.Ser182Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73621920A>T | CA364713669 | SLC17A5 | c.862T>A (p.Ser288Thr) c.811T>A (p.Ser271Thr) c.664T>A (p.Ser222Thr) c.631T>A (p.Ser211Thr) c.883T>A (p.Ser295Thr) c.775T>A (p.Ser259Thr) c.820-6473T>A (n.820-6473T>A) c.859T>A (p.Ser287Thr) c.544T>A (p.Ser182Thr) | |
| 6 | g.73621921T>A | CA364713671 | SLC17A5 | c.861A>T (p.Lys287Asn) c.810A>T (p.Lys270Asn) c.663A>T (p.Lys221Asn) c.630A>T (p.Lys210Asn) c.882A>T (p.Lys294Asn) c.774A>T (p.Lys258Asn) c.820-6474A>T (n.820-6474A>T) c.858A>T (p.Lys286Asn) c.543A>T (p.Lys181Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73621921T>C | CA450910922 | SLC17A5 | c.861A>G (p.Lys287=) c.810A>G (p.Lys270=) c.663A>G (p.Lys221=) c.630A>G (p.Lys210=) c.882A>G (p.Lys294=) c.774A>G (p.Lys258=) c.820-6474A>G (n.820-6474A>G) c.858A>G (p.Lys286=) c.543A>G (p.Lys181=) | |
| 6 | g.73621921T>G | CA364713670 | SLC17A5 | c.861A>C (p.Lys287Asn) c.810A>C (p.Lys270Asn) c.663A>C (p.Lys221Asn) c.630A>C (p.Lys210Asn) c.882A>C (p.Lys294Asn) c.774A>C (p.Lys258Asn) c.820-6474A>C (n.820-6474A>C) c.858A>C (p.Lys286Asn) c.543A>C (p.Lys181Asn) | dbSNP gnomAD v2 |
| 6 | g.73621921T= | CA1638234811 | SLC17A5 | c.861A= (p.Lys287=) c.810A= (p.Lys270=) c.663A= (p.Lys221=) c.630A= (p.Lys210=) c.882A= (p.Lys294=) c.774A= (p.Lys258=) c.820-6474A= (n.820-6474A=) c.858A= (p.Lys286=) c.543A= (p.Lys181=) | |
| 6 | g.73621922T>A | CA364713672 | SLC17A5 | c.860A>T (p.Lys287Ile) c.809A>T (p.Lys270Ile) c.662A>T (p.Lys221Ile) c.629A>T (p.Lys210Ile) c.881A>T (p.Lys294Ile) c.773A>T (p.Lys258Ile) c.820-6475A>T (n.820-6475A>T) c.857A>T (p.Lys286Ile) c.542A>T (p.Lys181Ile) | |
| 6 | g.73621922T>C | CA364713674 | SLC17A5 | c.860A>G (p.Lys287Arg) c.809A>G (p.Lys270Arg) c.662A>G (p.Lys221Arg) c.629A>G (p.Lys210Arg) c.881A>G (p.Lys294Arg) c.773A>G (p.Lys258Arg) c.820-6475A>G (n.820-6475A>G) c.857A>G (p.Lys286Arg) c.542A>G (p.Lys181Arg) | |
| 6 | g.73621922T>G | CA364713673 | SLC17A5 | c.860A>C (p.Lys287Thr) c.809A>C (p.Lys270Thr) c.662A>C (p.Lys221Thr) c.629A>C (p.Lys210Thr) c.881A>C (p.Lys294Thr) c.773A>C (p.Lys258Thr) c.820-6475A>C (n.820-6475A>C) c.857A>C (p.Lys286Thr) c.542A>C (p.Lys181Thr) | |
| 6 | g.73621923T>A | CA364713675 | SLC17A5 | c.859A>T (p.Lys287Ter) c.808A>T (p.Lys270Ter) c.661A>T (p.Lys221Ter) c.628A>T (p.Lys210Ter) c.880A>T (p.Lys294Ter) c.772A>T (p.Lys258Ter) c.820-6476A>T (n.820-6476A>T) c.856A>T (p.Lys286Ter) c.541A>T (p.Lys181Ter) | |
| 6 | g.73621923T>C | CA364713676 | SLC17A5 | c.859A>G (p.Lys287Glu) c.808A>G (p.Lys270Glu) c.661A>G (p.Lys221Glu) c.628A>G (p.Lys210Glu) c.880A>G (p.Lys294Glu) c.772A>G (p.Lys258Glu) c.820-6476A>G (n.820-6476A>G) c.856A>G (p.Lys286Glu) c.541A>G (p.Lys181Glu) | |
| 6 | g.73621923T>G | CA364713677 | SLC17A5 | c.859A>C (p.Lys287Gln) c.808A>C (p.Lys270Gln) c.661A>C (p.Lys221Gln) c.628A>C (p.Lys210Gln) c.880A>C (p.Lys294Gln) c.772A>C (p.Lys258Gln) c.820-6476A>C (n.820-6476A>C) c.856A>C (p.Lys286Gln) c.541A>C (p.Lys181Gln) | |
| 6 | g.73621924T>A | CA364713678 | SLC17A5 | c.858A>T (p.Leu286Phe) c.807A>T (p.Leu269Phe) c.660A>T (p.Leu220Phe) c.627A>T (p.Leu209Phe) c.879A>T (p.Leu293Phe) c.771A>T (p.Leu257Phe) c.820-6477A>T (n.820-6477A>T) c.855A>T (p.Leu285Phe) c.540A>T (p.Leu180Phe) | dbSNP |
| 6 | g.73621924T>C | CA450910923 | SLC17A5 | c.858A>G (p.Leu286=) c.807A>G (p.Leu269=) c.660A>G (p.Leu220=) c.627A>G (p.Leu209=) c.879A>G (p.Leu293=) c.771A>G (p.Leu257=) c.820-6477A>G (n.820-6477A>G) c.855A>G (p.Leu285=) c.540A>G (p.Leu180=) | |
| 6 | g.73621924T>G | CA364713679 | SLC17A5 | c.858A>C (p.Leu286Phe) c.807A>C (p.Leu269Phe) c.660A>C (p.Leu220Phe) c.627A>C (p.Leu209Phe) c.879A>C (p.Leu293Phe) c.771A>C (p.Leu257Phe) c.820-6477A>C (n.820-6477A>C) c.855A>C (p.Leu285Phe) c.540A>C (p.Leu180Phe) | |
| 6 | g.73621924T= | CA1638234812 | SLC17A5 | c.858A= (p.Leu286=) c.807A= (p.Leu269=) c.660A= (p.Leu220=) c.627A= (p.Leu209=) c.879A= (p.Leu293=) c.771A= (p.Leu257=) c.820-6477A= (n.820-6477A=) c.855A= (p.Leu285=) c.540A= (p.Leu180=) | |
| 6 | g.73621925A>C | CA364713680 | SLC17A5 | c.857T>G (p.Leu286Ter) c.806T>G (p.Leu269Ter) c.659T>G (p.Leu220Ter) c.626T>G (p.Leu209Ter) c.878T>G (p.Leu293Ter) c.770T>G (p.Leu257Ter) c.820-6478T>G (n.820-6478T>G) c.854T>G (p.Leu285Ter) c.539T>G (p.Leu180Ter) | |
| 6 | g.73621925A>G | CA364713681 | SLC17A5 | c.857T>C (p.Leu286Ser) c.806T>C (p.Leu269Ser) c.659T>C (p.Leu220Ser) c.626T>C (p.Leu209Ser) c.878T>C (p.Leu293Ser) c.770T>C (p.Leu257Ser) c.820-6478T>C (n.820-6478T>C) c.854T>C (p.Leu285Ser) c.539T>C (p.Leu180Ser) | |
| 6 | g.73621925A>T | CA364713682 | SLC17A5 | c.857T>A (p.Leu286Ter) c.806T>A (p.Leu269Ter) c.659T>A (p.Leu220Ter) c.626T>A (p.Leu209Ter) c.878T>A (p.Leu293Ter) c.770T>A (p.Leu257Ter) c.820-6478T>A (n.820-6478T>A) c.854T>A (p.Leu285Ter) c.539T>A (p.Leu180Ter) | ClinVar |
| 6 | g.73621926A>C | CA364713683 | SLC17A5 | c.856T>G (p.Leu286Val) c.805T>G (p.Leu269Val) c.658T>G (p.Leu220Val) c.625T>G (p.Leu209Val) c.877T>G (p.Leu293Val) c.769T>G (p.Leu257Val) c.820-6479T>G (n.820-6479T>G) c.853T>G (p.Leu285Val) c.538T>G (p.Leu180Val) | gnomAD v4 |
| 6 | g.73621926A>G | CA450910924 | SLC17A5 | c.856T>C (p.Leu286=) c.805T>C (p.Leu269=) c.658T>C (p.Leu220=) c.625T>C (p.Leu209=) c.877T>C (p.Leu293=) c.769T>C (p.Leu257=) c.820-6479T>C (n.820-6479T>C) c.853T>C (p.Leu285=) c.538T>C (p.Leu180=) | |
| 6 | g.73621926A>T | CA364713684 | SLC17A5 | c.856T>A (p.Leu286Ile) c.805T>A (p.Leu269Ile) c.658T>A (p.Leu220Ile) c.625T>A (p.Leu209Ile) c.877T>A (p.Leu293Ile) c.769T>A (p.Leu257Ile) c.820-6479T>A (n.820-6479T>A) c.853T>A (p.Leu285Ile) c.538T>A (p.Leu180Ile) | |
| 6 | g.73621927A>C | CA364713685 | SLC17A5 | c.855T>G (p.Ile285Met) c.804T>G (p.Ile268Met) c.657T>G (p.Ile219Met) c.624T>G (p.Ile208Met) c.876T>G (p.Ile292Met) c.768T>G (p.Ile256Met) c.820-6480T>G (n.820-6480T>G) c.852T>G (p.Ile284Met) c.537T>G (p.Ile179Met) | |
| 6 | g.73621927A>G | CA450910926 | SLC17A5 | c.855T>C (p.Ile285=) c.804T>C (p.Ile268=) c.657T>C (p.Ile219=) c.624T>C (p.Ile208=) c.876T>C (p.Ile292=) c.768T>C (p.Ile256=) c.820-6480T>C (n.820-6480T>C) c.852T>C (p.Ile284=) c.537T>C (p.Ile179=) | |
| 6 | g.73621927A>T | CA450910925 | SLC17A5 | c.855T>A (p.Ile285=) c.804T>A (p.Ile268=) c.657T>A (p.Ile219=) c.624T>A (p.Ile208=) c.876T>A (p.Ile292=) c.768T>A (p.Ile256=) c.820-6480T>A (n.820-6480T>A) c.852T>A (p.Ile284=) c.537T>A (p.Ile179=) | |
| 6 | g.73621928A>C | CA364713688 | SLC17A5 | c.854T>G (p.Ile285Ser) c.803T>G (p.Ile268Ser) c.656T>G (p.Ile219Ser) c.623T>G (p.Ile208Ser) c.875T>G (p.Ile292Ser) c.767T>G (p.Ile256Ser) c.820-6481T>G (n.820-6481T>G) c.851T>G (p.Ile284Ser) c.536T>G (p.Ile179Ser) | |
| 6 | g.73621928A>G | CA364713687 | SLC17A5 | c.854T>C (p.Ile285Thr) c.803T>C (p.Ile268Thr) c.656T>C (p.Ile219Thr) c.623T>C (p.Ile208Thr) c.875T>C (p.Ile292Thr) c.767T>C (p.Ile256Thr) c.820-6481T>C (n.820-6481T>C) c.851T>C (p.Ile284Thr) c.536T>C (p.Ile179Thr) | |
| 6 | g.73621928A>T | CA364713686 | SLC17A5 | c.854T>A (p.Ile285Asn) c.803T>A (p.Ile268Asn) c.656T>A (p.Ile219Asn) c.623T>A (p.Ile208Asn) c.875T>A (p.Ile292Asn) c.767T>A (p.Ile256Asn) c.820-6481T>A (n.820-6481T>A) c.851T>A (p.Ile284Asn) c.536T>A (p.Ile179Asn) | |
| 6 | g.73621929T>A | CA364713689 | SLC17A5 | c.853A>T (p.Ile285Phe) c.802A>T (p.Ile268Phe) c.655A>T (p.Ile219Phe) c.622A>T (p.Ile208Phe) c.874A>T (p.Ile292Phe) c.766A>T (p.Ile256Phe) c.820-6482A>T (n.820-6482A>T) c.850A>T (p.Ile284Phe) c.535A>T (p.Ile179Phe) | dbSNP |
| 6 | g.73621929T>C | CA364713690 | SLC17A5 | c.853A>G (p.Ile285Val) c.802A>G (p.Ile268Val) c.655A>G (p.Ile219Val) c.622A>G (p.Ile208Val) c.874A>G (p.Ile292Val) c.766A>G (p.Ile256Val) c.820-6482A>G (n.820-6482A>G) c.850A>G (p.Ile284Val) c.535A>G (p.Ile179Val) | |
| 6 | g.73621929T>G | CA364713691 | SLC17A5 | c.853A>C (p.Ile285Leu) c.802A>C (p.Ile268Leu) c.655A>C (p.Ile219Leu) c.622A>C (p.Ile208Leu) c.874A>C (p.Ile292Leu) c.766A>C (p.Ile256Leu) c.820-6482A>C (n.820-6482A>C) c.850A>C (p.Ile284Leu) c.535A>C (p.Ile179Leu) | |
| 6 | g.73621929T= | CA1638234813 | SLC17A5 | c.853A= (p.Ile285=) c.802A= (p.Ile268=) c.655A= (p.Ile219=) c.622A= (p.Ile208=) c.874A= (p.Ile292=) c.766A= (p.Ile256=) c.820-6482A= (n.820-6482A=) c.850A= (p.Ile284=) c.535A= (p.Ile179=) | |
| 6 | g.73621930G>A | CA450910927 | SLC17A5 | c.852C>T (p.Pro284=) c.801C>T (p.Pro267=) c.654C>T (p.Pro218=) c.621C>T (p.Pro207=) c.873C>T (p.Pro291=) c.765C>T (p.Pro255=) c.820-6483C>T (n.820-6483C>T) c.849C>T (p.Pro283=) c.534C>T (p.Pro178=) | gnomAD v4 |
| 6 | g.73621930G>C | CA450910928 | SLC17A5 | c.852C>G (p.Pro284=) c.801C>G (p.Pro267=) c.654C>G (p.Pro218=) c.621C>G (p.Pro207=) c.873C>G (p.Pro291=) c.765C>G (p.Pro255=) c.820-6483C>G (n.820-6483C>G) c.849C>G (p.Pro283=) c.534C>G (p.Pro178=) | |
| 6 | g.73621930G>T | CA450910929 | SLC17A5 | c.852C>A (p.Pro284=) c.801C>A (p.Pro267=) c.654C>A (p.Pro218=) c.621C>A (p.Pro207=) c.873C>A (p.Pro291=) c.765C>A (p.Pro255=) c.820-6483C>A (n.820-6483C>A) c.849C>A (p.Pro283=) c.534C>A (p.Pro178=) | |
| 6 | g.73621931G>A | CA364713692 | SLC17A5 | c.851C>T (p.Pro284Leu) c.800C>T (p.Pro267Leu) c.653C>T (p.Pro218Leu) c.620C>T (p.Pro207Leu) c.872C>T (p.Pro291Leu) c.764C>T (p.Pro255Leu) c.820-6484C>T (n.820-6484C>T) c.848C>T (p.Pro283Leu) c.533C>T (p.Pro178Leu) | |
| 6 | g.73621931G>C | CA3890406 | SLC17A5 | c.851C>G (p.Pro284Arg) c.800C>G (p.Pro267Arg) c.653C>G (p.Pro218Arg) c.620C>G (p.Pro207Arg) c.872C>G (p.Pro291Arg) c.764C>G (p.Pro255Arg) c.820-6484C>G (n.820-6484C>G) c.848C>G (p.Pro283Arg) c.533C>G (p.Pro178Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73621931G= | CA1638234814 | SLC17A5 | c.851C= (p.Pro284=) c.800C= (p.Pro267=) c.653C= (p.Pro218=) c.620C= (p.Pro207=) c.872C= (p.Pro291=) c.764C= (p.Pro255=) c.820-6484C= (n.820-6484C=) c.848C= (p.Pro283=) c.533C= (p.Pro178=) | |
| 6 | g.73621931G>T | CA364713693 | SLC17A5 | c.851C>A (p.Pro284His) c.800C>A (p.Pro267His) c.653C>A (p.Pro218His) c.620C>A (p.Pro207His) c.872C>A (p.Pro291His) c.764C>A (p.Pro255His) c.820-6484C>A (n.820-6484C>A) c.848C>A (p.Pro283His) c.533C>A (p.Pro178His) | |
| 6 | g.73621932G>A | CA364713694 | SLC17A5 | c.850C>T (p.Pro284Ser) c.799C>T (p.Pro267Ser) c.652C>T (p.Pro218Ser) c.619C>T (p.Pro207Ser) c.871C>T (p.Pro291Ser) c.763C>T (p.Pro255Ser) c.820-6485C>T (n.820-6485C>T) c.847C>T (p.Pro283Ser) c.532C>T (p.Pro178Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73621932G>C | CA364713695 | SLC17A5 | c.850C>G (p.Pro284Ala) c.799C>G (p.Pro267Ala) c.652C>G (p.Pro218Ala) c.619C>G (p.Pro207Ala) c.871C>G (p.Pro291Ala) c.763C>G (p.Pro255Ala) c.820-6485C>G (n.820-6485C>G) c.847C>G (p.Pro283Ala) c.532C>G (p.Pro178Ala) | |
| 6 | g.73621932G= | CA1638234815 | SLC17A5 | c.850C= (p.Pro284=) c.799C= (p.Pro267=) c.652C= (p.Pro218=) c.619C= (p.Pro207=) c.871C= (p.Pro291=) c.763C= (p.Pro255=) c.820-6485C= (n.820-6485C=) c.847C= (p.Pro283=) c.532C= (p.Pro178=) | |
| 6 | g.73621932G>T | CA364713696 | SLC17A5 | c.850C>A (p.Pro284Thr) c.799C>A (p.Pro267Thr) c.652C>A (p.Pro218Thr) c.619C>A (p.Pro207Thr) c.871C>A (p.Pro291Thr) c.763C>A (p.Pro255Thr) c.820-6485C>A (n.820-6485C>A) c.847C>A (p.Pro283Thr) c.532C>A (p.Pro178Thr) | |
| 6 | g.73621933T>A | CA450910930 | SLC17A5 | c.849A>T (p.Val283=) c.798A>T (p.Val266=) c.651A>T (p.Val217=) c.618A>T (p.Val206=) c.870A>T (p.Val290=) c.762A>T (p.Val254=) c.820-6486A>T (n.820-6486A>T) c.846A>T (p.Val282=) c.531A>T (p.Val177=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.73621933T>C | CA450910931 | SLC17A5 | c.849A>G (p.Val283=) c.798A>G (p.Val266=) c.651A>G (p.Val217=) c.618A>G (p.Val206=) c.870A>G (p.Val290=) c.762A>G (p.Val254=) c.820-6486A>G (n.820-6486A>G) c.846A>G (p.Val282=) c.531A>G (p.Val177=) | |
| 6 | g.73621933T>G | CA450910932 | SLC17A5 | c.849A>C (p.Val283=) c.798A>C (p.Val266=) c.651A>C (p.Val217=) c.618A>C (p.Val206=) c.870A>C (p.Val290=) c.762A>C (p.Val254=) c.820-6486A>C (n.820-6486A>C) c.846A>C (p.Val282=) c.531A>C (p.Val177=) | dbSNP |
| 6 | g.73621933T= | CA1638234816 | SLC17A5 | c.849A= (p.Val283=) c.798A= (p.Val266=) c.651A= (p.Val217=) c.618A= (p.Val206=) c.870A= (p.Val290=) c.762A= (p.Val254=) c.820-6486A= (n.820-6486A=) c.846A= (p.Val282=) c.531A= (p.Val177=) | |
| 6 | g.73621933_73621936del | CA2695198316 | SLC17A5 | c.846_849del (p.Trp282CysfsTer4) c.795_798del (p.Trp265CysfsTer4) c.648_651del (p.Trp216CysfsTer4) c.615_618del (p.Trp205CysfsTer4) c.867_870del (p.Trp289CysfsTer4) c.759_762del (p.Trp253CysfsTer4) c.820-6489_820-6486del (n.820-6489_820-6486del) c.843_846del (p.Trp281CysfsTer4) c.528_531del (p.Trp176CysfsTer4) | ClinVar |
| 6 | g.73621934A= | CA1638234817 | SLC17A5 | c.848T= (p.Val283=) c.797T= (p.Val266=) c.650T= (p.Val217=) c.617T= (p.Val206=) c.869T= (p.Val290=) c.761T= (p.Val254=) c.820-6487T= (n.820-6487T=) c.845T= (p.Val282=) c.530T= (p.Val177=) | |
| 6 | g.73621934A>C | CA364713697 | SLC17A5 | c.848T>G (p.Val283Gly) c.797T>G (p.Val266Gly) c.650T>G (p.Val217Gly) c.617T>G (p.Val206Gly) c.869T>G (p.Val290Gly) c.761T>G (p.Val254Gly) c.820-6487T>G (n.820-6487T>G) c.845T>G (p.Val282Gly) c.530T>G (p.Val177Gly) | |
| 6 | g.73621934A>G | CA140963235 | SLC17A5 | c.848T>C (p.Val283Ala) c.797T>C (p.Val266Ala) c.650T>C (p.Val217Ala) c.617T>C (p.Val206Ala) c.869T>C (p.Val290Ala) c.761T>C (p.Val254Ala) c.820-6487T>C (n.820-6487T>C) c.845T>C (p.Val282Ala) c.530T>C (p.Val177Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73621934A>T | CA364713698 | SLC17A5 | c.848T>A (p.Val283Glu) c.797T>A (p.Val266Glu) c.650T>A (p.Val217Glu) c.617T>A (p.Val206Glu) c.869T>A (p.Val290Glu) c.761T>A (p.Val254Glu) c.820-6487T>A (n.820-6487T>A) c.845T>A (p.Val282Glu) c.530T>A (p.Val177Glu) | |
| 6 | g.73621935C>A | CA3890407 | SLC17A5 | c.847G>T (p.Val283Leu) c.796G>T (p.Val266Leu) c.649G>T (p.Val217Leu) c.616G>T (p.Val206Leu) c.868G>T (p.Val290Leu) c.760G>T (p.Val254Leu) c.820-6488G>T (n.820-6488G>T) c.844G>T (p.Val282Leu) c.529G>T (p.Val177Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73621935C= | CA1638234818 | SLC17A5 | c.847G= (p.Val283=) c.796G= (p.Val266=) c.649G= (p.Val217=) c.616G= (p.Val206=) c.868G= (p.Val290=) c.760G= (p.Val254=) c.820-6488G= (n.820-6488G=) c.844G= (p.Val282=) c.529G= (p.Val177=) | |
| 6 | g.73621935C>G | CA364713700 | SLC17A5 | c.847G>C (p.Val283Leu) c.796G>C (p.Val266Leu) c.649G>C (p.Val217Leu) c.616G>C (p.Val206Leu) c.868G>C (p.Val290Leu) c.760G>C (p.Val254Leu) c.820-6488G>C (n.820-6488G>C) c.844G>C (p.Val282Leu) c.529G>C (p.Val177Leu) | |
| 6 | g.73621935C>T | CA364713699 | SLC17A5 | c.847G>A (p.Val283Ile) c.796G>A (p.Val266Ile) c.649G>A (p.Val217Ile) c.616G>A (p.Val206Ile) c.868G>A (p.Val290Ile) c.760G>A (p.Val254Ile) c.820-6488G>A (n.820-6488G>A) c.844G>A (p.Val282Ile) c.529G>A (p.Val177Ile) | |
| 6 | g.73621936C>A | CA364713701 | SLC17A5 | c.846G>T (p.Trp282Cys) c.795G>T (p.Trp265Cys) c.648G>T (p.Trp216Cys) c.615G>T (p.Trp205Cys) c.867G>T (p.Trp289Cys) c.759G>T (p.Trp253Cys) c.820-6489G>T (n.820-6489G>T) c.843G>T (p.Trp281Cys) c.528G>T (p.Trp176Cys) | gnomAD v4 COSMIC |
| 6 | g.73621936C= | CA1638234819 | SLC17A5 | c.846G= (p.Trp282=) c.795G= (p.Trp265=) c.648G= (p.Trp216=) c.615G= (p.Trp205=) c.867G= (p.Trp289=) c.759G= (p.Trp253=) c.820-6489G= (n.820-6489G=) c.843G= (p.Trp281=) c.528G= (p.Trp176=) | |
| 6 | g.73621936C>G | CA364713702 | SLC17A5 | c.846G>C (p.Trp282Cys) c.795G>C (p.Trp265Cys) c.648G>C (p.Trp216Cys) c.615G>C (p.Trp205Cys) c.867G>C (p.Trp289Cys) c.759G>C (p.Trp253Cys) c.820-6489G>C (n.820-6489G>C) c.843G>C (p.Trp281Cys) c.528G>C (p.Trp176Cys) | |
| 6 | g.73621936C>T | CA364713703 | SLC17A5 | c.846G>A (p.Trp282Ter) c.795G>A (p.Trp265Ter) c.648G>A (p.Trp216Ter) c.615G>A (p.Trp205Ter) c.867G>A (p.Trp289Ter) c.759G>A (p.Trp253Ter) c.820-6489G>A (n.820-6489G>A) c.843G>A (p.Trp281Ter) c.528G>A (p.Trp176Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73621937C>A | CA364713704 | SLC17A5 | c.845G>T (p.Trp282Leu) c.794G>T (p.Trp265Leu) c.647G>T (p.Trp216Leu) c.614G>T (p.Trp205Leu) c.866G>T (p.Trp289Leu) c.758G>T (p.Trp253Leu) c.820-6490G>T (n.820-6490G>T) c.842G>T (p.Trp281Leu) c.527G>T (p.Trp176Leu) | |
| 6 | g.73621937C>G | CA364713705 | SLC17A5 | c.845G>C (p.Trp282Ser) c.794G>C (p.Trp265Ser) c.647G>C (p.Trp216Ser) c.614G>C (p.Trp205Ser) c.866G>C (p.Trp289Ser) c.758G>C (p.Trp253Ser) c.820-6490G>C (n.820-6490G>C) c.842G>C (p.Trp281Ser) c.527G>C (p.Trp176Ser) | |
| 6 | g.73621937C>T | CA364713706 | SLC17A5 | c.845G>A (p.Trp282Ter) c.794G>A (p.Trp265Ter) c.647G>A (p.Trp216Ter) c.614G>A (p.Trp205Ter) c.866G>A (p.Trp289Ter) c.758G>A (p.Trp253Ter) c.820-6490G>A (n.820-6490G>A) c.842G>A (p.Trp281Ter) c.527G>A (p.Trp176Ter) | |
| 6 | g.73621938A>C | CA364713707 | SLC17A5 | c.844T>G (p.Trp282Gly) c.793T>G (p.Trp265Gly) c.646T>G (p.Trp216Gly) c.613T>G (p.Trp205Gly) c.865T>G (p.Trp289Gly) c.757T>G (p.Trp253Gly) c.820-6491T>G (n.820-6491T>G) c.841T>G (p.Trp281Gly) c.526T>G (p.Trp176Gly) | |
| 6 | g.73621938A>G | CA364713708 | SLC17A5 | c.844T>C (p.Trp282Arg) c.793T>C (p.Trp265Arg) c.646T>C (p.Trp216Arg) c.613T>C (p.Trp205Arg) c.865T>C (p.Trp289Arg) c.757T>C (p.Trp253Arg) c.820-6491T>C (n.820-6491T>C) c.841T>C (p.Trp281Arg) c.526T>C (p.Trp176Arg) | |
| 6 | g.73621938A>T | CA364713709 | SLC17A5 | c.844T>A (p.Trp282Arg) c.793T>A (p.Trp265Arg) c.646T>A (p.Trp216Arg) c.613T>A (p.Trp205Arg) c.865T>A (p.Trp289Arg) c.757T>A (p.Trp253Arg) c.820-6491T>A (n.820-6491T>A) c.841T>A (p.Trp281Arg) c.526T>A (p.Trp176Arg) | |
| 6 | g.73621939C>A | CA450910933 | SLC17A5 | c.843G>T (p.Pro281=) c.792G>T (p.Pro264=) c.645G>T (p.Pro215=) c.612G>T (p.Pro204=) c.864G>T (p.Pro288=) c.756G>T (p.Pro252=) c.820-6492G>T (n.820-6492G>T) c.840G>T (p.Pro280=) c.525G>T (p.Pro175=) | ClinVar dbSNP |
| 6 | g.73621939C= | CA1638234820 | SLC17A5 | c.843G= (p.Pro281=) c.792G= (p.Pro264=) c.645G= (p.Pro215=) c.612G= (p.Pro204=) c.864G= (p.Pro288=) c.756G= (p.Pro252=) c.820-6492G= (n.820-6492G=) c.840G= (p.Pro280=) c.525G= (p.Pro175=) | |
| 6 | g.73621939C>G | CA450910934 | SLC17A5 | c.843G>C (p.Pro281=) c.792G>C (p.Pro264=) c.645G>C (p.Pro215=) c.612G>C (p.Pro204=) c.864G>C (p.Pro288=) c.756G>C (p.Pro252=) c.820-6492G>C (n.820-6492G>C) c.840G>C (p.Pro280=) c.525G>C (p.Pro175=) | dbSNP |
| 6 | g.73621939C>T | CA3890408 | SLC17A5 | c.843G>A (p.Pro281=) c.792G>A (p.Pro264=) c.645G>A (p.Pro215=) c.612G>A (p.Pro204=) c.864G>A (p.Pro288=) c.756G>A (p.Pro252=) c.820-6492G>A (n.820-6492G>A) c.840G>A (p.Pro280=) c.525G>A (p.Pro175=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.73621939dup | CA913111543 | SLC17A5 | c.843dup (p.Trp282ValfsTer?) c.792dup (p.Trp265ValfsTer?) c.645dup (p.Trp216ValfsTer?) c.612dup (p.Trp205ValfsTer?) c.864dup (p.Trp289ValfsTer?) c.756dup (p.Trp253ValfsTer?) c.820-6492dup (n.820-6492dup) c.840dup (p.Trp281ValfsTer?) c.525dup (p.Trp176ValfsTer?) | |
| 6 | g.73621940G>A | CA140963251 | SLC17A5 | c.842C>T (p.Pro281Leu) c.791C>T (p.Pro264Leu) c.644C>T (p.Pro215Leu) c.611C>T (p.Pro204Leu) c.863C>T (p.Pro288Leu) c.755C>T (p.Pro252Leu) c.820-6493C>T (n.820-6493C>T) c.839C>T (p.Pro280Leu) c.524C>T (p.Pro175Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73621940G>C | CA364713710 | SLC17A5 | c.842C>G (p.Pro281Arg) c.791C>G (p.Pro264Arg) c.644C>G (p.Pro215Arg) c.611C>G (p.Pro204Arg) c.863C>G (p.Pro288Arg) c.755C>G (p.Pro252Arg) c.820-6493C>G (n.820-6493C>G) c.839C>G (p.Pro280Arg) c.524C>G (p.Pro175Arg) | |
| 6 | g.73621940G= | CA1638234821 | SLC17A5 | c.842C= (p.Pro281=) c.791C= (p.Pro264=) c.644C= (p.Pro215=) c.611C= (p.Pro204=) c.863C= (p.Pro288=) c.755C= (p.Pro252=) c.820-6493C= (n.820-6493C=) c.839C= (p.Pro280=) c.524C= (p.Pro175=) | |
| 6 | g.73621940G>T | CA364713711 | SLC17A5 | c.842C>A (p.Pro281Gln) c.791C>A (p.Pro264Gln) c.644C>A (p.Pro215Gln) c.611C>A (p.Pro204Gln) c.863C>A (p.Pro288Gln) c.755C>A (p.Pro252Gln) c.820-6493C>A (n.820-6493C>A) c.839C>A (p.Pro280Gln) c.524C>A (p.Pro175Gln) | |
| 6 | g.73621941_73621946dup | CA658821772 | SLC17A5 | c.837_842dup (p.Pro281_Trp282insValPro) c.786_791dup (p.Pro264_Trp265insValPro) c.639_644dup (p.Pro215_Trp216insValPro) c.606_611dup (p.Pro204_Trp205insValPro) c.858_863dup (p.Pro288_Trp289insValPro) c.750_755dup (p.Pro252_Trp253insValPro) c.820-6498_820-6493dup (n.820-6498_820-6493dup) c.834_839dup (p.Pro280_Trp281insValPro) c.519_524dup (p.Pro175_Trp176insValPro) | ClinVar dbSNP |
| 6 | g.73621941G>A | CA3890409 | SLC17A5 | c.841C>T (p.Pro281Ser) c.790C>T (p.Pro264Ser) c.643C>T (p.Pro215Ser) c.610C>T (p.Pro204Ser) c.862C>T (p.Pro288Ser) c.754C>T (p.Pro252Ser) c.820-6494C>T (n.820-6494C>T) c.838C>T (p.Pro280Ser) c.523C>T (p.Pro175Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.73621941G>C | CA364713712 | SLC17A5 | c.841C>G (p.Pro281Ala) c.790C>G (p.Pro264Ala) c.643C>G (p.Pro215Ala) c.610C>G (p.Pro204Ala) c.862C>G (p.Pro288Ala) c.754C>G (p.Pro252Ala) c.820-6494C>G (n.820-6494C>G) c.838C>G (p.Pro280Ala) c.523C>G (p.Pro175Ala) | |
| 6 | g.73621941G= | CA1638234822 | SLC17A5 | c.841C= (p.Pro281=) c.790C= (p.Pro264=) c.643C= (p.Pro215=) c.610C= (p.Pro204=) c.862C= (p.Pro288=) c.754C= (p.Pro252=) c.820-6494C= (n.820-6494C=) c.838C= (p.Pro280=) c.523C= (p.Pro175=) | |
| 6 | g.73621941G>T | CA364713713 | SLC17A5 | c.841C>A (p.Pro281Thr) c.790C>A (p.Pro264Thr) c.643C>A (p.Pro215Thr) c.610C>A (p.Pro204Thr) c.862C>A (p.Pro288Thr) c.754C>A (p.Pro252Thr) c.820-6494C>A (n.820-6494C>A) c.838C>A (p.Pro280Thr) c.523C>A (p.Pro175Thr) | |
| 6 | g.73621942C>A | CA450910935 | SLC17A5 | c.840G>T (p.Val280=) c.789G>T (p.Val263=) c.642G>T (p.Val214=) c.609G>T (p.Val203=) c.861G>T (p.Val287=) c.753G>T (p.Val251=) c.820-6495G>T (n.820-6495G>T) c.837G>T (p.Val279=) c.522G>T (p.Val174=) | |
| 6 | g.73621942C>G | CA450910937 | SLC17A5 | c.840G>C (p.Val280=) c.789G>C (p.Val263=) c.642G>C (p.Val214=) c.609G>C (p.Val203=) c.861G>C (p.Val287=) c.753G>C (p.Val251=) c.820-6495G>C (n.820-6495G>C) c.837G>C (p.Val279=) c.522G>C (p.Val174=) | |
| 6 | g.73621942C>T | CA450910936 | SLC17A5 | c.840G>A (p.Val280=) c.789G>A (p.Val263=) c.642G>A (p.Val214=) c.609G>A (p.Val203=) c.861G>A (p.Val287=) c.753G>A (p.Val251=) c.820-6495G>A (n.820-6495G>A) c.837G>A (p.Val279=) c.522G>A (p.Val174=) | |
| 6 | g.73621943A>C | CA364713714 | SLC17A5 | c.839T>G (p.Val280Gly) c.788T>G (p.Val263Gly) c.641T>G (p.Val214Gly) c.608T>G (p.Val203Gly) c.860T>G (p.Val287Gly) c.752T>G (p.Val251Gly) c.820-6496T>G (n.820-6496T>G) c.836T>G (p.Val279Gly) c.521T>G (p.Val174Gly) | |
| 6 | g.73621943A>G | CA364713715 | SLC17A5 | c.839T>C (p.Val280Ala) c.788T>C (p.Val263Ala) c.641T>C (p.Val214Ala) c.608T>C (p.Val203Ala) c.860T>C (p.Val287Ala) c.752T>C (p.Val251Ala) c.820-6496T>C (n.820-6496T>C) c.836T>C (p.Val279Ala) c.521T>C (p.Val174Ala) | |
| 6 | g.73621943A>T | CA364713716 | SLC17A5 | c.839T>A (p.Val280Glu) c.788T>A (p.Val263Glu) c.641T>A (p.Val214Glu) c.608T>A (p.Val203Glu) c.860T>A (p.Val287Glu) c.752T>A (p.Val251Glu) c.820-6496T>A (n.820-6496T>A) c.836T>A (p.Val279Glu) c.521T>A (p.Val174Glu) | |
| 6 | g.73621944C>A | CA364713717 | SLC17A5 | c.838G>T (p.Val280Leu) c.787G>T (p.Val263Leu) c.640G>T (p.Val214Leu) c.607G>T (p.Val203Leu) c.859G>T (p.Val287Leu) c.751G>T (p.Val251Leu) c.820-6497G>T (n.820-6497G>T) c.835G>T (p.Val279Leu) c.520G>T (p.Val174Leu) | |
| 6 | g.73621944C>G | CA364713718 | SLC17A5 | c.838G>C (p.Val280Leu) c.787G>C (p.Val263Leu) c.640G>C (p.Val214Leu) c.607G>C (p.Val203Leu) c.859G>C (p.Val287Leu) c.751G>C (p.Val251Leu) c.820-6497G>C (n.820-6497G>C) c.835G>C (p.Val279Leu) c.520G>C (p.Val174Leu) | |
| 6 | g.73621944C>T | CA364713719 | SLC17A5 | c.838G>A (p.Val280Met) c.787G>A (p.Val263Met) c.640G>A (p.Val214Met) c.607G>A (p.Val203Met) c.859G>A (p.Val287Met) c.751G>A (p.Val251Met) c.820-6497G>A (n.820-6497G>A) c.835G>A (p.Val279Met) c.520G>A (p.Val174Met) | |
| 6 | g.73621945T>A | CA450910938 | SLC17A5 | c.837A>T (p.Ser279=) c.786A>T (p.Ser262=) c.639A>T (p.Ser213=) c.606A>T (p.Ser202=) c.858A>T (p.Ser286=) c.750A>T (p.Ser250=) c.820-6498A>T (n.820-6498A>T) c.834A>T (p.Ser278=) c.519A>T (p.Ser173=) | |
| 6 | g.73621945T>C | CA450910940 | SLC17A5 | c.837A>G (p.Ser279=) c.786A>G (p.Ser262=) c.639A>G (p.Ser213=) c.606A>G (p.Ser202=) c.858A>G (p.Ser286=) c.750A>G (p.Ser250=) c.820-6498A>G (n.820-6498A>G) c.834A>G (p.Ser278=) c.519A>G (p.Ser173=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.73621945T>G | CA450910939 | SLC17A5 | c.837A>C (p.Ser279=) c.786A>C (p.Ser262=) c.639A>C (p.Ser213=) c.606A>C (p.Ser202=) c.858A>C (p.Ser286=) c.750A>C (p.Ser250=) c.820-6498A>C (n.820-6498A>C) c.834A>C (p.Ser278=) c.519A>C (p.Ser173=) | |
| 6 | g.73621946G>A | CA364713720 | SLC17A5 | c.836C>T (p.Ser279Leu) c.785C>T (p.Ser262Leu) c.638C>T (p.Ser213Leu) c.605C>T (p.Ser202Leu) c.857C>T (p.Ser286Leu) c.749C>T (p.Ser250Leu) c.820-6499C>T (n.820-6499C>T) c.833C>T (p.Ser278Leu) c.518C>T (p.Ser173Leu) | dbSNP gnomAD v4 |
| 6 | g.73621946G>C | CA364713721 | SLC17A5 | c.836C>G (p.Ser279Ter) c.785C>G (p.Ser262Ter) c.638C>G (p.Ser213Ter) c.605C>G (p.Ser202Ter) c.857C>G (p.Ser286Ter) c.749C>G (p.Ser250Ter) c.820-6499C>G (n.820-6499C>G) c.833C>G (p.Ser278Ter) c.518C>G (p.Ser173Ter) | |
| 6 | g.73621946G= | CA1638234823 | SLC17A5 | c.836C= (p.Ser279=) c.785C= (p.Ser262=) c.638C= (p.Ser213=) c.605C= (p.Ser202=) c.857C= (p.Ser286=) c.749C= (p.Ser250=) c.820-6499C= (n.820-6499C=) c.833C= (p.Ser278=) c.518C= (p.Ser173=) | |
| 6 | g.73621946G>T | CA364713722 | SLC17A5 | c.836C>A (p.Ser279Ter) c.785C>A (p.Ser262Ter) c.638C>A (p.Ser213Ter) c.605C>A (p.Ser202Ter) c.857C>A (p.Ser286Ter) c.749C>A (p.Ser250Ter) c.820-6499C>A (n.820-6499C>A) c.833C>A (p.Ser278Ter) c.518C>A (p.Ser173Ter) | gnomAD v4 |
| 6 | g.73621947A>C | CA364713723 | SLC17A5 | c.835T>G (p.Ser279Ala) c.784T>G (p.Ser262Ala) c.637T>G (p.Ser213Ala) c.604T>G (p.Ser202Ala) c.856T>G (p.Ser286Ala) c.748T>G (p.Ser250Ala) c.820-6500T>G (n.820-6500T>G) c.832T>G (p.Ser278Ala) c.517T>G (p.Ser173Ala) | |
| 6 | g.73621947A>G | CA364713724 | SLC17A5 | c.835T>C (p.Ser279Pro) c.784T>C (p.Ser262Pro) c.637T>C (p.Ser213Pro) c.604T>C (p.Ser202Pro) c.856T>C (p.Ser286Pro) c.748T>C (p.Ser250Pro) c.820-6500T>C (n.820-6500T>C) c.832T>C (p.Ser278Pro) c.517T>C (p.Ser173Pro) | |
| 6 | g.73621947A>T | CA364713725 | SLC17A5 | c.835T>A (p.Ser279Thr) c.784T>A (p.Ser262Thr) c.637T>A (p.Ser213Thr) c.604T>A (p.Ser202Thr) c.856T>A (p.Ser286Thr) c.748T>A (p.Ser250Thr) c.820-6500T>A (n.820-6500T>A) c.832T>A (p.Ser278Thr) c.517T>A (p.Ser173Thr) | |
| 6 | g.73621948C>A | CA364713727 | SLC17A5 | c.834G>T (p.Lys278Asn) c.783G>T (p.Lys261Asn) c.636G>T (p.Lys212Asn) c.603G>T (p.Lys201Asn) c.855G>T (p.Lys285Asn) c.747G>T (p.Lys249Asn) c.820-6501G>T (n.820-6501G>T) c.831G>T (p.Lys277Asn) c.516G>T (p.Lys172Asn) | gnomAD v4 |
| 6 | g.73621948C>G | CA364713726 | SLC17A5 | c.834G>C (p.Lys278Asn) c.783G>C (p.Lys261Asn) c.636G>C (p.Lys212Asn) c.603G>C (p.Lys201Asn) c.855G>C (p.Lys285Asn) c.747G>C (p.Lys249Asn) c.820-6501G>C (n.820-6501G>C) c.831G>C (p.Lys277Asn) c.516G>C (p.Lys172Asn) | |
| 6 | g.73621948C>T | CA450910941 | SLC17A5 | c.834G>A (p.Lys278=) c.783G>A (p.Lys261=) c.636G>A (p.Lys212=) c.603G>A (p.Lys201=) c.855G>A (p.Lys285=) c.747G>A (p.Lys249=) c.820-6501G>A (n.820-6501G>A) c.831G>A (p.Lys277=) c.516G>A (p.Lys172=) | gnomAD v4 |
| 6 | g.73621949T>A | CA364713728 | SLC17A5 | c.833A>T (p.Lys278Met) c.782A>T (p.Lys261Met) c.635A>T (p.Lys212Met) c.602A>T (p.Lys201Met) c.854A>T (p.Lys285Met) c.746A>T (p.Lys249Met) c.820-6502A>T (n.820-6502A>T) c.830A>T (p.Lys277Met) c.515A>T (p.Lys172Met) | |
| 6 | g.73621949T>C | CA364713730 | SLC17A5 | c.833A>G (p.Lys278Arg) c.782A>G (p.Lys261Arg) c.635A>G (p.Lys212Arg) c.602A>G (p.Lys201Arg) c.854A>G (p.Lys285Arg) c.746A>G (p.Lys249Arg) c.820-6502A>G (n.820-6502A>G) c.830A>G (p.Lys277Arg) c.515A>G (p.Lys172Arg) | dbSNP gnomAD v4 |
| 6 | g.73621949T>G | CA364713729 | SLC17A5 | c.833A>C (p.Lys278Thr) c.782A>C (p.Lys261Thr) c.635A>C (p.Lys212Thr) c.602A>C (p.Lys201Thr) c.854A>C (p.Lys285Thr) c.746A>C (p.Lys249Thr) c.820-6502A>C (n.820-6502A>C) c.830A>C (p.Lys277Thr) c.515A>C (p.Lys172Thr) | |
| 6 | g.73621949T= | CA1638234824 | SLC17A5 | c.833A= (p.Lys278=) c.782A= (p.Lys261=) c.635A= (p.Lys212=) c.602A= (p.Lys201=) c.854A= (p.Lys285=) c.746A= (p.Lys249=) c.820-6502A= (n.820-6502A=) c.830A= (p.Lys277=) c.515A= (p.Lys172=) | |
| 6 | g.73621950T>A | CA364713731 | SLC17A5 | c.832A>T (p.Lys278Ter) c.781A>T (p.Lys261Ter) c.634A>T (p.Lys212Ter) c.601A>T (p.Lys201Ter) c.853A>T (p.Lys285Ter) c.745A>T (p.Lys249Ter) c.820-6503A>T (n.820-6503A>T) c.829A>T (p.Lys277Ter) c.514A>T (p.Lys172Ter) | |
| 6 | g.73621950T>C | CA364713733 | SLC17A5 | c.832A>G (p.Lys278Glu) c.781A>G (p.Lys261Glu) c.634A>G (p.Lys212Glu) c.601A>G (p.Lys201Glu) c.853A>G (p.Lys285Glu) c.745A>G (p.Lys249Glu) c.820-6503A>G (n.820-6503A>G) c.829A>G (p.Lys277Glu) c.514A>G (p.Lys172Glu) | |
| 6 | g.73621950T>G | CA364713732 | SLC17A5 | c.832A>C (p.Lys278Gln) c.781A>C (p.Lys261Gln) c.634A>C (p.Lys212Gln) c.601A>C (p.Lys201Gln) c.853A>C (p.Lys285Gln) c.745A>C (p.Lys249Gln) c.820-6503A>C (n.820-6503A>C) c.829A>C (p.Lys277Gln) c.514A>C (p.Lys172Gln) | |
| 6 | g.73621951C>A | CA364713734 | SLC17A5 | c.831G>T (p.Gln277His) c.780G>T (p.Gln260His) c.633G>T (p.Gln211His) c.600G>T (p.Gln200His) c.852G>T (p.Gln284His) c.744G>T (p.Gln248His) c.820-6504G>T (n.820-6504G>T) c.828G>T (p.Gln276His) c.513G>T (p.Gln171His) | |
| 6 | g.73621951C>G | CA364713735 | SLC17A5 | c.831G>C (p.Gln277His) c.780G>C (p.Gln260His) c.633G>C (p.Gln211His) c.600G>C (p.Gln200His) c.852G>C (p.Gln284His) c.744G>C (p.Gln248His) c.820-6504G>C (n.820-6504G>C) c.828G>C (p.Gln276His) c.513G>C (p.Gln171His) | |
| 6 | g.73621951C>T | CA450910942 | SLC17A5 | c.831G>A (p.Gln277=) c.780G>A (p.Gln260=) c.633G>A (p.Gln211=) c.600G>A (p.Gln200=) c.852G>A (p.Gln284=) c.744G>A (p.Gln248=) c.820-6504G>A (n.820-6504G>A) c.828G>A (p.Gln276=) c.513G>A (p.Gln171=) | |
| 6 | g.73621952T>A | CA364713736 | SLC17A5 | c.830A>T (p.Gln277Leu) c.779A>T (p.Gln260Leu) c.632A>T (p.Gln211Leu) c.599A>T (p.Gln200Leu) c.851A>T (p.Gln284Leu) c.743A>T (p.Gln248Leu) c.820-6505A>T (n.820-6505A>T) c.827A>T (p.Gln276Leu) c.512A>T (p.Gln171Leu) | |
| 6 | g.73621952T>C | CA364713738 | SLC17A5 | c.830A>G (p.Gln277Arg) c.779A>G (p.Gln260Arg) c.632A>G (p.Gln211Arg) c.599A>G (p.Gln200Arg) c.851A>G (p.Gln284Arg) c.743A>G (p.Gln248Arg) c.820-6505A>G (n.820-6505A>G) c.827A>G (p.Gln276Arg) c.512A>G (p.Gln171Arg) | gnomAD v4 |
| 6 | g.73621952T>G | CA364713737 | SLC17A5 | c.830A>C (p.Gln277Pro) c.779A>C (p.Gln260Pro) c.632A>C (p.Gln211Pro) c.599A>C (p.Gln200Pro) c.851A>C (p.Gln284Pro) c.743A>C (p.Gln248Pro) c.820-6505A>C (n.820-6505A>C) c.827A>C (p.Gln276Pro) c.512A>C (p.Gln171Pro) | dbSNP gnomAD v4 |
| 6 | g.73621952T= | CA1638234825 | SLC17A5 | c.830A= (p.Gln277=) c.779A= (p.Gln260=) c.632A= (p.Gln211=) c.599A= (p.Gln200=) c.851A= (p.Gln284=) c.743A= (p.Gln248=) c.820-6505A= (n.820-6505A=) c.827A= (p.Gln276=) c.512A= (p.Gln171=) | |
| 6 | g.73621953G>A | CA364713739 | SLC17A5 | c.829C>T (p.Gln277Ter) c.778C>T (p.Gln260Ter) c.631C>T (p.Gln211Ter) c.598C>T (p.Gln200Ter) c.850C>T (p.Gln284Ter) c.742C>T (p.Gln248Ter) c.820-6506C>T (n.820-6506C>T) c.826C>T (p.Gln276Ter) c.511C>T (p.Gln171Ter) | ClinVar dbSNP gnomAD v4 |
| 6 | g.73621953G>C | CA364713740 | SLC17A5 | c.829C>G (p.Gln277Glu) c.778C>G (p.Gln260Glu) c.631C>G (p.Gln211Glu) c.598C>G (p.Gln200Glu) c.850C>G (p.Gln284Glu) c.742C>G (p.Gln248Glu) c.820-6506C>G (n.820-6506C>G) c.826C>G (p.Gln276Glu) c.511C>G (p.Gln171Glu) | |
| 6 | g.73621953G= | CA1638234826 | SLC17A5 | c.829C= (p.Gln277=) c.778C= (p.Gln260=) c.631C= (p.Gln211=) c.598C= (p.Gln200=) c.850C= (p.Gln284=) c.742C= (p.Gln248=) c.820-6506C= (n.820-6506C=) c.826C= (p.Gln276=) c.511C= (p.Gln171=) | |
| 6 | g.73621953G>T | CA364713741 | SLC17A5 | c.829C>A (p.Gln277Lys) c.778C>A (p.Gln260Lys) c.631C>A (p.Gln211Lys) c.598C>A (p.Gln200Lys) c.850C>A (p.Gln284Lys) c.742C>A (p.Gln248Lys) c.820-6506C>A (n.820-6506C>A) c.826C>A (p.Gln276Lys) c.511C>A (p.Gln171Lys) | |
| 6 | g.73621954T>A | CA450910943 | SLC17A5 | c.828A>T (p.Ser276=) c.777A>T (p.Ser259=) c.630A>T (p.Ser210=) c.597A>T (p.Ser199=) c.849A>T (p.Ser283=) c.741A>T (p.Ser247=) c.820-6507A>T (n.820-6507A>T) c.825A>T (p.Ser275=) c.510A>T (p.Ser170=) | |
| 6 | g.73621954T>C | CA450910944 | SLC17A5 | c.828A>G (p.Ser276=) c.777A>G (p.Ser259=) c.630A>G (p.Ser210=) c.597A>G (p.Ser199=) c.849A>G (p.Ser283=) c.741A>G (p.Ser247=) c.820-6507A>G (n.820-6507A>G) c.825A>G (p.Ser275=) c.510A>G (p.Ser170=) | dbSNP |
| 6 | g.73621954T>G | CA450910945 | SLC17A5 | c.828A>C (p.Ser276=) c.777A>C (p.Ser259=) c.630A>C (p.Ser210=) c.597A>C (p.Ser199=) c.849A>C (p.Ser283=) c.741A>C (p.Ser247=) c.820-6507A>C (n.820-6507A>C) c.825A>C (p.Ser275=) c.510A>C (p.Ser170=) | ClinVar |
| 6 | g.73621954T= | CA1638234827 | SLC17A5 | c.828A= (p.Ser276=) c.777A= (p.Ser259=) c.630A= (p.Ser210=) c.597A= (p.Ser199=) c.849A= (p.Ser283=) c.741A= (p.Ser247=) c.820-6507A= (n.820-6507A=) c.825A= (p.Ser275=) c.510A= (p.Ser170=) | |
| 6 | g.73621955G>A | CA364713742 | SLC17A5 | c.827C>T (p.Ser276Leu) c.776C>T (p.Ser259Leu) c.629C>T (p.Ser210Leu) c.596C>T (p.Ser199Leu) c.848C>T (p.Ser283Leu) c.740C>T (p.Ser247Leu) c.820-6508C>T (n.820-6508C>T) c.824C>T (p.Ser275Leu) c.509C>T (p.Ser170Leu) | |
| 6 | g.73621955G>C | CA364713743 | SLC17A5 | c.827C>G (p.Ser276Ter) c.776C>G (p.Ser259Ter) c.629C>G (p.Ser210Ter) c.596C>G (p.Ser199Ter) c.848C>G (p.Ser283Ter) c.740C>G (p.Ser247Ter) c.820-6508C>G (n.820-6508C>G) c.824C>G (p.Ser275Ter) c.509C>G (p.Ser170Ter) | |
| 6 | g.73621955G>T | CA364713744 | SLC17A5 | c.827C>A (p.Ser276Ter) c.776C>A (p.Ser259Ter) c.629C>A (p.Ser210Ter) c.596C>A (p.Ser199Ter) c.848C>A (p.Ser283Ter) c.740C>A (p.Ser247Ter) c.820-6508C>A (n.820-6508C>A) c.824C>A (p.Ser275Ter) c.509C>A (p.Ser170Ter) | |
| 6 | g.73621956A>C | CA364713745 | SLC17A5 | c.826T>G (p.Ser276Ala) c.775T>G (p.Ser259Ala) c.628T>G (p.Ser210Ala) c.595T>G (p.Ser199Ala) c.847T>G (p.Ser283Ala) c.739T>G (p.Ser247Ala) c.820-6509T>G (n.820-6509T>G) c.823T>G (p.Ser275Ala) c.508T>G (p.Ser170Ala) | |
| 6 | g.73621956A>G | CA364713746 | SLC17A5 | c.826T>C (p.Ser276Pro) c.775T>C (p.Ser259Pro) c.628T>C (p.Ser210Pro) c.595T>C (p.Ser199Pro) c.847T>C (p.Ser283Pro) c.739T>C (p.Ser247Pro) c.820-6509T>C (n.820-6509T>C) c.823T>C (p.Ser275Pro) c.508T>C (p.Ser170Pro) | |
| 6 | g.73621956A>T | CA364713747 | SLC17A5 | c.826T>A (p.Ser276Thr) c.775T>A (p.Ser259Thr) c.628T>A (p.Ser210Thr) c.595T>A (p.Ser199Thr) c.847T>A (p.Ser283Thr) c.739T>A (p.Ser247Thr) c.820-6509T>A (n.820-6509T>A) c.823T>A (p.Ser275Thr) c.508T>A (p.Ser170Thr) | |
| 6 | g.73621957A>C | CA450910946 | SLC17A5 | c.825T>G (p.Ser275=) c.774T>G (p.Ser258=) c.627T>G (p.Ser209=) c.594T>G (p.Ser198=) c.846T>G (p.Ser282=) c.738T>G (p.Ser246=) c.820-6510T>G (n.820-6510T>G) c.822T>G (p.Ser274=) c.507T>G (p.Ser169=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.73621957A>G | CA450910947 | SLC17A5 | c.825T>C (p.Ser275=) c.774T>C (p.Ser258=) c.627T>C (p.Ser209=) c.594T>C (p.Ser198=) c.846T>C (p.Ser282=) c.738T>C (p.Ser246=) c.820-6510T>C (n.820-6510T>C) c.822T>C (p.Ser274=) c.507T>C (p.Ser169=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.73621957A>T | CA450910948 | SLC17A5 | c.825T>A (p.Ser275=) c.774T>A (p.Ser258=) c.627T>A (p.Ser209=) c.594T>A (p.Ser198=) c.846T>A (p.Ser282=) c.738T>A (p.Ser246=) c.820-6510T>A (n.820-6510T>A) c.822T>A (p.Ser274=) c.507T>A (p.Ser169=) | |
| 6 | g.73621958G>A | CA364713748 | SLC17A5 | c.824C>T (p.Ser275Phe) c.773C>T (p.Ser258Phe) c.626C>T (p.Ser209Phe) c.593C>T (p.Ser198Phe) c.845C>T (p.Ser282Phe) c.737C>T (p.Ser246Phe) c.820-6511C>T (n.820-6511C>T) c.821C>T (p.Ser274Phe) c.506C>T (p.Ser169Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73621958G>C | CA3890410 | SLC17A5 | c.824C>G (p.Ser275Cys) c.773C>G (p.Ser258Cys) c.626C>G (p.Ser209Cys) c.593C>G (p.Ser198Cys) c.845C>G (p.Ser282Cys) c.737C>G (p.Ser246Cys) c.820-6511C>G (n.820-6511C>G) c.821C>G (p.Ser274Cys) c.506C>G (p.Ser169Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73621958G= | CA1638234828 | SLC17A5 | c.824C= (p.Ser275=) c.773C= (p.Ser258=) c.626C= (p.Ser209=) c.593C= (p.Ser198=) c.845C= (p.Ser282=) c.737C= (p.Ser246=) c.820-6511C= (n.820-6511C=) c.821C= (p.Ser274=) c.506C= (p.Ser169=) | |
| 6 | g.73621958G>T | CA364713749 | SLC17A5 | c.824C>A (p.Ser275Tyr) c.773C>A (p.Ser258Tyr) c.626C>A (p.Ser209Tyr) c.593C>A (p.Ser198Tyr) c.845C>A (p.Ser282Tyr) c.737C>A (p.Ser246Tyr) c.820-6511C>A (n.820-6511C>A) c.821C>A (p.Ser274Tyr) c.506C>A (p.Ser169Tyr) | |
| 6 | g.73621959A= | CA1638234829 | SLC17A5 | c.823T= (p.Ser275=) c.772T= (p.Ser258=) c.625T= (p.Ser209=) c.592T= (p.Ser198=) c.844T= (p.Ser282=) c.736T= (p.Ser246=) c.820-6512T= (n.820-6512T=) c.820T= (p.Ser274=) c.505T= (p.Ser169=) | |
| 6 | g.73621959A>C | CA364713750 | SLC17A5 | c.823T>G (p.Ser275Ala) c.772T>G (p.Ser258Ala) c.625T>G (p.Ser209Ala) c.592T>G (p.Ser198Ala) c.844T>G (p.Ser282Ala) c.736T>G (p.Ser246Ala) c.820-6512T>G (n.820-6512T>G) c.820T>G (p.Ser274Ala) c.505T>G (p.Ser169Ala) | |
| 6 | g.73621959A>G | CA364713752 | SLC17A5 | c.823T>C (p.Ser275Pro) c.772T>C (p.Ser258Pro) c.625T>C (p.Ser209Pro) c.592T>C (p.Ser198Pro) c.844T>C (p.Ser282Pro) c.736T>C (p.Ser246Pro) c.820-6512T>C (n.820-6512T>C) c.820T>C (p.Ser274Pro) c.505T>C (p.Ser169Pro) | dbSNP gnomAD v4 |
| 6 | g.73621959A>T | CA364713751 | SLC17A5 | c.823T>A (p.Ser275Thr) c.772T>A (p.Ser258Thr) c.625T>A (p.Ser209Thr) c.592T>A (p.Ser198Thr) c.844T>A (p.Ser282Thr) c.736T>A (p.Ser246Thr) c.820-6512T>A (n.820-6512T>A) c.820T>A (p.Ser274Thr) c.505T>A (p.Ser169Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73621960A>C | CA450910949 | SLC17A5 | c.822T>G (p.Leu274=) c.771T>G (p.Leu257=) c.624T>G (p.Leu208=) c.591T>G (p.Leu197=) c.843T>G (p.Leu281=) c.735T>G (p.Leu245=) c.820-6513T>G (n.820-6513T>G) c.819T>G (p.Leu273=) c.504T>G (p.Leu168=) | |
| 6 | g.73621960A>G | CA450910950 | SLC17A5 | c.822T>C (p.Leu274=) c.771T>C (p.Leu257=) c.624T>C (p.Leu208=) c.591T>C (p.Leu197=) c.843T>C (p.Leu281=) c.735T>C (p.Leu245=) c.820-6513T>C (n.820-6513T>C) c.819T>C (p.Leu273=) c.504T>C (p.Leu168=) | |
| 6 | g.73621960A>T | CA450910951 | SLC17A5 | c.822T>A (p.Leu274=) c.771T>A (p.Leu257=) c.624T>A (p.Leu208=) c.591T>A (p.Leu197=) c.843T>A (p.Leu281=) c.735T>A (p.Leu245=) c.820-6513T>A (n.820-6513T>A) c.819T>A (p.Leu273=) c.504T>A (p.Leu168=) | |
| 6 | g.73621961A>C | CA364713753 | SLC17A5 | c.821T>G (p.Leu274Arg) c.770T>G (p.Leu257Arg) c.623T>G (p.Leu208Arg) c.590T>G (p.Leu197Arg) c.842T>G (p.Leu281Arg) c.734T>G (p.Leu245Arg) c.820-6514T>G (n.820-6514T>G) c.818T>G (p.Leu273Arg) c.503T>G (p.Leu168Arg) | gnomAD v4 |
| 6 | g.73621961A>G | CA364713754 | SLC17A5 | c.821T>C (p.Leu274Pro) c.770T>C (p.Leu257Pro) c.623T>C (p.Leu208Pro) c.590T>C (p.Leu197Pro) c.842T>C (p.Leu281Pro) c.734T>C (p.Leu245Pro) c.820-6514T>C (n.820-6514T>C) c.818T>C (p.Leu273Pro) c.503T>C (p.Leu168Pro) | |
| 6 | g.73621961A>T | CA364713755 | SLC17A5 | c.821T>A (p.Leu274His) c.770T>A (p.Leu257His) c.623T>A (p.Leu208His) c.590T>A (p.Leu197His) c.842T>A (p.Leu281His) c.734T>A (p.Leu245His) c.820-6514T>A (n.820-6514T>A) c.818T>A (p.Leu273His) c.503T>A (p.Leu168His) | |
| 6 | g.73621962G>A | CA364713756 | SLC17A5 | c.820C>T (p.Leu274Phe) c.769C>T (p.Leu257Phe) c.622C>T (p.Leu208Phe) c.589C>T (p.Leu197Phe) c.841C>T (p.Leu281Phe) c.733C>T (p.Leu245Phe) c.820-6515C>T (n.820-6515C>T) c.817C>T (p.Leu273Phe) c.502C>T (p.Leu168Phe) | |
| 6 | g.73621962G>C | CA364713757 | SLC17A5 | c.820C>G (p.Leu274Val) c.769C>G (p.Leu257Val) c.622C>G (p.Leu208Val) c.589C>G (p.Leu197Val) c.841C>G (p.Leu281Val) c.733C>G (p.Leu245Val) c.820-6515C>G (n.820-6515C>G) c.817C>G (p.Leu273Val) c.502C>G (p.Leu168Val) | |
| 6 | g.73621962G>T | CA364713758 | SLC17A5 | c.820C>A (p.Leu274Ile) c.769C>A (p.Leu257Ile) c.622C>A (p.Leu208Ile) c.589C>A (p.Leu197Ile) c.841C>A (p.Leu281Ile) c.733C>A (p.Leu245Ile) c.820-6515C>A (n.820-6515C>A) c.817C>A (p.Leu273Ile) c.502C>A (p.Leu168Ile) | |
| 6 | g.73621963C>A | CA364713759 | SLC17A5 | c.820-1G>T (n.820-1G>T) c.769-1G>T (n.769-1G>T) c.622-1G>T (n.622-1G>T) c.589-1G>T (n.589-1G>T) c.841-1G>T (n.841-1G>T) c.733-1G>T (n.733-1G>T) c.820-6516G>T (n.820-6516G>T) c.817-1G>T (n.817-1G>T) c.502-1G>T (n.502-1G>T) | |
| 6 | g.73621963C>G | CA364713760 | SLC17A5 | c.820-1G>C (n.820-1G>C) c.769-1G>C (n.769-1G>C) c.622-1G>C (n.622-1G>C) c.589-1G>C (n.589-1G>C) c.841-1G>C (n.841-1G>C) c.733-1G>C (n.733-1G>C) c.820-6516G>C (n.820-6516G>C) c.817-1G>C (n.817-1G>C) c.502-1G>C (n.502-1G>C) | |
| 6 | g.73621963C>T | CA364713761 | SLC17A5 | c.820-1G>A (n.820-1G>A) c.769-1G>A (n.769-1G>A) c.622-1G>A (n.622-1G>A) c.589-1G>A (n.589-1G>A) c.841-1G>A (n.841-1G>A) c.733-1G>A (n.733-1G>A) c.820-6516G>A (n.820-6516G>A) c.817-1G>A (n.817-1G>A) c.502-1G>A (n.502-1G>A) | |
| 6 | g.73621964T>A | CA364713763 | SLC17A5 | c.820-2A>T (n.820-2A>T) c.769-2A>T (n.769-2A>T) c.622-2A>T (n.622-2A>T) c.589-2A>T (n.589-2A>T) c.841-2A>T (n.841-2A>T) c.733-2A>T (n.733-2A>T) c.820-6517A>T (n.820-6517A>T) c.817-2A>T (n.817-2A>T) c.502-2A>T (n.502-2A>T) | |
| 6 | g.73621964T>C | CA364713764 | SLC17A5 | c.820-2A>G (n.820-2A>G) c.769-2A>G (n.769-2A>G) c.622-2A>G (n.622-2A>G) c.589-2A>G (n.589-2A>G) c.841-2A>G (n.841-2A>G) c.733-2A>G (n.733-2A>G) c.820-6517A>G (n.820-6517A>G) c.817-2A>G (n.817-2A>G) c.502-2A>G (n.502-2A>G) | |
| 6 | g.73621964T>G | CA364713762 | SLC17A5 | c.820-2A>C (n.820-2A>C) c.769-2A>C (n.769-2A>C) c.622-2A>C (n.622-2A>C) c.589-2A>C (n.589-2A>C) c.841-2A>C (n.841-2A>C) c.733-2A>C (n.733-2A>C) c.820-6517A>C (n.820-6517A>C) c.817-2A>C (n.817-2A>C) c.502-2A>C (n.502-2A>C) | ClinVar dbSNP |
| 6 | g.73621964T= | CA1638234830 | SLC17A5 | c.820-2A= (n.820-2A=) c.769-2A= (n.769-2A=) c.622-2A= (n.622-2A=) c.589-2A= (n.589-2A=) c.841-2A= (n.841-2A=) c.733-2A= (n.733-2A=) c.820-6517A= (n.820-6517A=) c.817-2A= (n.817-2A=) c.502-2A= (n.502-2A=) | |
| 6 | g.73621965G>A | CA3890411 | SLC17A5 | c.820-3C>T (n.820-3C>T) c.769-3C>T (n.769-3C>T) c.622-3C>T (n.622-3C>T) c.589-3C>T (n.589-3C>T) c.841-3C>T (n.841-3C>T) c.733-3C>T (n.733-3C>T) c.820-6518C>T (n.820-6518C>T) c.817-3C>T (n.817-3C>T) c.502-3C>T (n.502-3C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73621965G= | CA1638234831 | SLC17A5 | c.820-3C= (n.820-3C=) c.769-3C= (n.769-3C=) c.622-3C= (n.622-3C=) c.589-3C= (n.589-3C=) c.841-3C= (n.841-3C=) c.733-3C= (n.733-3C=) c.820-6518C= (n.820-6518C=) c.817-3C= (n.817-3C=) c.502-3C= (n.502-3C=) | |
| 6 | g.73621966A>G | CA2679404159 | SLC17A5 | c.820-4T>C (n.820-4T>C) c.769-4T>C (n.769-4T>C) c.622-4T>C (n.622-4T>C) c.589-4T>C (n.589-4T>C) c.841-4T>C (n.841-4T>C) c.733-4T>C (n.733-4T>C) c.820-6519T>C (n.820-6519T>C) c.817-4T>C (n.817-4T>C) c.502-4T>C (n.502-4T>C) | gnomAD v4 |
| 6 | g.73621967A>G | CA2679404160 | SLC17A5 | c.820-5T>C (n.820-5T>C) c.769-5T>C (n.769-5T>C) c.622-5T>C (n.622-5T>C) c.589-5T>C (n.589-5T>C) c.841-5T>C (n.841-5T>C) c.733-5T>C (n.733-5T>C) c.820-6520T>C (n.820-6520T>C) c.817-5T>C (n.817-5T>C) c.502-5T>C (n.502-5T>C) | gnomAD v4 |
| 6 | g.73621969A>G | CA2679404161 | SLC17A5 | c.820-7T>C (n.820-7T>C) c.769-7T>C (n.769-7T>C) c.622-7T>C (n.622-7T>C) c.589-7T>C (n.589-7T>C) c.841-7T>C (n.841-7T>C) c.733-7T>C (n.733-7T>C) c.820-6522T>C (n.820-6522T>C) c.817-7T>C (n.817-7T>C) c.502-7T>C (n.502-7T>C) | gnomAD v4 |
| 6 | g.73621970A= | CA1638234832 | SLC17A5 | c.820-8T= (n.820-8T=) c.769-8T= (n.769-8T=) c.622-8T= (n.622-8T=) c.589-8T= (n.589-8T=) c.841-8T= (n.841-8T=) c.733-8T= (n.733-8T=) c.820-6523T= (n.820-6523T=) c.817-8T= (n.817-8T=) c.502-8T= (n.502-8T=) | |
| 6 | g.73621970A>T | CA140963313 | SLC17A5 | c.820-8T>A (n.820-8T>A) c.769-8T>A (n.769-8T>A) c.622-8T>A (n.622-8T>A) c.589-8T>A (n.589-8T>A) c.841-8T>A (n.841-8T>A) c.733-8T>A (n.733-8T>A) c.820-6523T>A (n.820-6523T>A) c.817-8T>A (n.817-8T>A) c.502-8T>A (n.502-8T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73621970_73621971insTGTATTCCTTTTCATAATGGGAAATTCTCTTGTGTTTTTGTGGTGTGTCACTAACT | CA2679404162 | SLC17A5 | c.820-9_820-8insAGTTAGTGACACACCACAAAAACACAAGAGAATTTCCCATTATGAAAAGGAATACA (n.820-9_820-8insAGTTAGTGACACACCACAAAAACACAAGAGAATTTCCCATTATGAAAAGGAATACA) c.769-9_769-8insAGTTAGTGACACACCACAAAAACACAAGAGAATTTCCCATTATGAAAAGGAATACA (n.769-9_769-8insAGTTAGTGACACACCACAAAAACACAAGAGAATTTCCCATTATGAAAAGGAATACA) c.622-9_622-8insAGTTAGTGACACACCACAAAAACACAAGAGAATTTCCCATTATGAAAAGGAATACA (n.622-9_622-8insAGTTAGTGACACACCACAAAAACACAAGAGAATTTCCCATTATGAAAAGGAATACA) c.589-9_589-8insAGTTAGTGACACACCACAAAAACACAAGAGAATTTCCCATTATGAAAAGGAATACA (n.589-9_589-8insAGTTAGTGACACACCACAAAAACACAAGAGAATTTCCCATTATGAAAAGGAATACA) c.841-9_841-8insAGTTAGTGACACACCACAAAAACACAAGAGAATTTCCCATTATGAAAAGGAATACA (n.841-9_841-8insAGTTAGTGACACACCACAAAAACACAAGAGAATTTCCCATTATGAAAAGGAATACA) c.733-9_733-8insAGTTAGTGACACACCACAAAAACACAAGAGAATTTCCCATTATGAAAAGGAATACA (n.733-9_733-8insAGTTAGTGACACACCACAAAAACACAAGAGAATTTCCCATTATGAAAAGGAATACA) c.820-6524_820-6523insAGTTAGTGACACACCACAAAAACACAAGAGAATTTCCCATTATGAAAAGGAATACA (n.820-6524_820-6523insAGTTAGTGACACACCACAAAAACACAAGAGAATTTCCCATTATGAAAAGGAATACA) c.817-9_817-8insAGTTAGTGACACACCACAAAAACACAAGAGAATTTCCCATTATGAAAAGGAATACA (n.817-9_817-8insAGTTAGTGACACACCACAAAAACACAAGAGAATTTCCCATTATGAAAAGGAATACA) c.502-9_502-8insAGTTAGTGACACACCACAAAAACACAAGAGAATTTCCCATTATGAAAAGGAATACA (n.502-9_502-8insAGTTAGTGACACACCACAAAAACACAAGAGAATTTCCCATTATGAAAAGGAATACA) | gnomAD v4 |
| 6 | g.73621971A>G | CA2679404163 | SLC17A5 | c.820-9T>C (n.820-9T>C) c.769-9T>C (n.769-9T>C) c.622-9T>C (n.622-9T>C) c.589-9T>C (n.589-9T>C) c.841-9T>C (n.841-9T>C) c.733-9T>C (n.733-9T>C) c.820-6524T>C (n.820-6524T>C) c.817-9T>C (n.817-9T>C) c.502-9T>C (n.502-9T>C) | gnomAD v4 |
| 6 | g.73621972A= | CA1638234833 | SLC17A5 | c.820-10T= (n.820-10T=) c.769-10T= (n.769-10T=) c.622-10T= (n.622-10T=) c.589-10T= (n.589-10T=) c.841-10T= (n.841-10T=) c.733-10T= (n.733-10T=) c.820-6525T= (n.820-6525T=) c.817-10T= (n.817-10T=) c.502-10T= (n.502-10T=) | |
| 6 | g.73621972A>G | CA3890412 | SLC17A5 | c.820-10T>C (n.820-10T>C) c.769-10T>C (n.769-10T>C) c.622-10T>C (n.622-10T>C) c.589-10T>C (n.589-10T>C) c.841-10T>C (n.841-10T>C) c.733-10T>C (n.733-10T>C) c.820-6525T>C (n.820-6525T>C) c.817-10T>C (n.817-10T>C) c.502-10T>C (n.502-10T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73621973C= | CA1638234834 | SLC17A5 | c.820-11G= (n.820-11G=) c.769-11G= (n.769-11G=) c.622-11G= (n.622-11G=) c.589-11G= (n.589-11G=) c.841-11G= (n.841-11G=) c.733-11G= (n.733-11G=) c.820-6526G= (n.820-6526G=) c.817-11G= (n.817-11G=) c.502-11G= (n.502-11G=) | |
| 6 | g.73621973C>G | CA567683196 | SLC17A5 | c.820-11G>C (n.820-11G>C) c.769-11G>C (n.769-11G>C) c.622-11G>C (n.622-11G>C) c.589-11G>C (n.589-11G>C) c.841-11G>C (n.841-11G>C) c.733-11G>C (n.733-11G>C) c.820-6526G>C (n.820-6526G>C) c.817-11G>C (n.817-11G>C) c.502-11G>C (n.502-11G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73621975G>C | CA140963319 | SLC17A5 | c.820-13C>G (n.820-13C>G) c.769-13C>G (n.769-13C>G) c.622-13C>G (n.622-13C>G) c.589-13C>G (n.589-13C>G) c.841-13C>G (n.841-13C>G) c.733-13C>G (n.733-13C>G) c.820-6528C>G (n.820-6528C>G) c.817-13C>G (n.817-13C>G) c.502-13C>G (n.502-13C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.73621975G= | CA1638234835 | SLC17A5 | c.820-13C= (n.820-13C=) c.769-13C= (n.769-13C=) c.622-13C= (n.622-13C=) c.589-13C= (n.589-13C=) c.841-13C= (n.841-13C=) c.733-13C= (n.733-13C=) c.820-6528C= (n.820-6528C=) c.817-13C= (n.817-13C=) c.502-13C= (n.502-13C=) | |
| 6 | g.73621978A>G | CA2697553580 | SLC17A5 | c.820-16T>C (n.820-16T>C) c.769-16T>C (n.769-16T>C) c.622-16T>C (n.622-16T>C) c.589-16T>C (n.589-16T>C) c.841-16T>C (n.841-16T>C) c.733-16T>C (n.733-16T>C) c.820-6531T>C (n.820-6531T>C) c.817-16T>C (n.817-16T>C) c.502-16T>C (n.502-16T>C) | ClinVar |
| 6 | g.73621979T>A | CA1638234837 | SLC17A5 | c.820-17A>T (n.820-17A>T) c.769-17A>T (n.769-17A>T) c.622-17A>T (n.622-17A>T) c.589-17A>T (n.589-17A>T) c.841-17A>T (n.841-17A>T) c.733-17A>T (n.733-17A>T) c.820-6532A>T (n.820-6532A>T) c.817-17A>T (n.817-17A>T) c.502-17A>T (n.502-17A>T) | dbSNP |
| 6 | g.73621979T>C | CA2578694432 | SLC17A5 | c.820-17A>G (n.820-17A>G) c.769-17A>G (n.769-17A>G) c.622-17A>G (n.622-17A>G) c.589-17A>G (n.589-17A>G) c.841-17A>G (n.841-17A>G) c.733-17A>G (n.733-17A>G) c.820-6532A>G (n.820-6532A>G) c.817-17A>G (n.817-17A>G) c.502-17A>G (n.502-17A>G) | ClinVar |
| 6 | g.73621979T= | CA1638234836 | SLC17A5 | c.820-17A= (n.820-17A=) c.769-17A= (n.769-17A=) c.622-17A= (n.622-17A=) c.589-17A= (n.589-17A=) c.841-17A= (n.841-17A=) c.733-17A= (n.733-17A=) c.820-6532A= (n.820-6532A=) c.817-17A= (n.817-17A=) c.502-17A= (n.502-17A=) | |
| 6 | g.73621981A= | CA1638234838 | SLC17A5 | c.820-19T= (n.820-19T=) c.769-19T= (n.769-19T=) c.622-19T= (n.622-19T=) c.589-19T= (n.589-19T=) c.841-19T= (n.841-19T=) c.733-19T= (n.733-19T=) c.820-6534T= (n.820-6534T=) c.817-19T= (n.817-19T=) c.502-19T= (n.502-19T=) | |
| 6 | g.73621981A>C | CA2578694433 | SLC17A5 | c.820-19T>G (n.820-19T>G) c.769-19T>G (n.769-19T>G) c.622-19T>G (n.622-19T>G) c.589-19T>G (n.589-19T>G) c.841-19T>G (n.841-19T>G) c.733-19T>G (n.733-19T>G) c.820-6534T>G (n.820-6534T>G) c.817-19T>G (n.817-19T>G) c.502-19T>G (n.502-19T>G) | |
| 6 | g.73621981A>G | CA3890413 | SLC17A5 | c.820-19T>C (n.820-19T>C) c.769-19T>C (n.769-19T>C) c.622-19T>C (n.622-19T>C) c.589-19T>C (n.589-19T>C) c.841-19T>C (n.841-19T>C) c.733-19T>C (n.733-19T>C) c.820-6534T>C (n.820-6534T>C) c.817-19T>C (n.817-19T>C) c.502-19T>C (n.502-19T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73621982T>G | CA2679404164 | SLC17A5 | c.820-20A>C (n.820-20A>C) c.769-20A>C (n.769-20A>C) c.622-20A>C (n.622-20A>C) c.589-20A>C (n.589-20A>C) c.841-20A>C (n.841-20A>C) c.733-20A>C (n.733-20A>C) c.820-6535A>C (n.820-6535A>C) c.817-20A>C (n.817-20A>C) c.502-20A>C (n.502-20A>C) | gnomAD v4 |
| 6 | g.73621984A>C | CA2679404165 | SLC17A5 | c.820-22T>G (n.820-22T>G) c.769-22T>G (n.769-22T>G) c.622-22T>G (n.622-22T>G) c.589-22T>G (n.589-22T>G) c.841-22T>G (n.841-22T>G) c.733-22T>G (n.733-22T>G) c.820-6537T>G (n.820-6537T>G) c.817-22T>G (n.817-22T>G) c.502-22T>G (n.502-22T>G) | gnomAD v4 |
| 6 | g.73621988T>A | CA2679404166 | SLC17A5 | c.820-26A>T (n.820-26A>T) c.769-26A>T (n.769-26A>T) c.622-26A>T (n.622-26A>T) c.589-26A>T (n.589-26A>T) c.841-26A>T (n.841-26A>T) c.733-26A>T (n.733-26A>T) c.820-6541A>T (n.820-6541A>T) c.817-26A>T (n.817-26A>T) c.502-26A>T (n.502-26A>T) | gnomAD v4 |
| 6 | g.73621988T>C | CA3890414 | SLC17A5 | c.820-26A>G (n.820-26A>G) c.769-26A>G (n.769-26A>G) c.622-26A>G (n.622-26A>G) c.589-26A>G (n.589-26A>G) c.841-26A>G (n.841-26A>G) c.733-26A>G (n.733-26A>G) c.820-6541A>G (n.820-6541A>G) c.817-26A>G (n.817-26A>G) c.502-26A>G (n.502-26A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73621988T= | CA1638234839 | SLC17A5 | c.820-26A= (n.820-26A=) c.769-26A= (n.769-26A=) c.622-26A= (n.622-26A=) c.589-26A= (n.589-26A=) c.841-26A= (n.841-26A=) c.733-26A= (n.733-26A=) c.820-6541A= (n.820-6541A=) c.817-26A= (n.817-26A=) c.502-26A= (n.502-26A=) | |
| 6 | g.73621989A>G | CA2679404167 | SLC17A5 | c.820-27T>C (n.820-27T>C) c.769-27T>C (n.769-27T>C) c.622-27T>C (n.622-27T>C) c.589-27T>C (n.589-27T>C) c.841-27T>C (n.841-27T>C) c.733-27T>C (n.733-27T>C) c.820-6542T>C (n.820-6542T>C) c.817-27T>C (n.817-27T>C) c.502-27T>C (n.502-27T>C) | gnomAD v4 |
| 6 | g.73621991A= | CA1638234840 | SLC17A5 | c.820-29T= (n.820-29T=) c.769-29T= (n.769-29T=) c.622-29T= (n.622-29T=) c.589-29T= (n.589-29T=) c.841-29T= (n.841-29T=) c.733-29T= (n.733-29T=) c.820-6544T= (n.820-6544T=) c.817-29T= (n.817-29T=) c.502-29T= (n.502-29T=) | |
| 6 | g.73621991A>T | CA567683198 | SLC17A5 | c.820-29T>A (n.820-29T>A) c.769-29T>A (n.769-29T>A) c.622-29T>A (n.622-29T>A) c.589-29T>A (n.589-29T>A) c.841-29T>A (n.841-29T>A) c.733-29T>A (n.733-29T>A) c.820-6544T>A (n.820-6544T>A) c.817-29T>A (n.817-29T>A) c.502-29T>A (n.502-29T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73621995C= | CA1638234841 | SLC17A5 | c.820-33G= (n.820-33G=) c.769-33G= (n.769-33G=) c.622-33G= (n.622-33G=) c.589-33G= (n.589-33G=) c.841-33G= (n.841-33G=) c.733-33G= (n.733-33G=) c.820-6548G= (n.820-6548G=) c.817-33G= (n.817-33G=) c.502-33G= (n.502-33G=) | |
| 6 | g.73621995C>T | CA3890415 | SLC17A5 | c.820-33G>A (n.820-33G>A) c.769-33G>A (n.769-33G>A) c.622-33G>A (n.622-33G>A) c.589-33G>A (n.589-33G>A) c.841-33G>A (n.841-33G>A) c.733-33G>A (n.733-33G>A) c.820-6548G>A (n.820-6548G>A) c.817-33G>A (n.817-33G>A) c.502-33G>A (n.502-33G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73621996G>A | CA3890416 | SLC17A5 | c.820-34C>T (n.820-34C>T) c.769-34C>T (n.769-34C>T) c.622-34C>T (n.622-34C>T) c.589-34C>T (n.589-34C>T) c.841-34C>T (n.841-34C>T) c.733-34C>T (n.733-34C>T) c.820-6549C>T (n.820-6549C>T) c.817-34C>T (n.817-34C>T) c.502-34C>T (n.502-34C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73621996G>C | CA2578694434 | SLC17A5 | c.820-34C>G (n.820-34C>G) c.769-34C>G (n.769-34C>G) c.622-34C>G (n.622-34C>G) c.589-34C>G (n.589-34C>G) c.841-34C>G (n.841-34C>G) c.733-34C>G (n.733-34C>G) c.820-6549C>G (n.820-6549C>G) c.817-34C>G (n.817-34C>G) c.502-34C>G (n.502-34C>G) | |
| 6 | g.73621996G= | CA1638234842 | SLC17A5 | c.820-34C= (n.820-34C=) c.769-34C= (n.769-34C=) c.622-34C= (n.622-34C=) c.589-34C= (n.589-34C=) c.841-34C= (n.841-34C=) c.733-34C= (n.733-34C=) c.820-6549C= (n.820-6549C=) c.817-34C= (n.817-34C=) c.502-34C= (n.502-34C=) | |
| 6 | g.73621997G>T | CA2679404168 | SLC17A5 | c.820-35C>A (n.820-35C>A) c.769-35C>A (n.769-35C>A) c.622-35C>A (n.622-35C>A) c.589-35C>A (n.589-35C>A) c.841-35C>A (n.841-35C>A) c.733-35C>A (n.733-35C>A) c.820-6550C>A (n.820-6550C>A) c.817-35C>A (n.817-35C>A) c.502-35C>A (n.502-35C>A) | gnomAD v4 |
| 6 | g.73621998C>T | CA2679404169 | SLC17A5 | c.820-36G>A (n.820-36G>A) c.769-36G>A (n.769-36G>A) c.622-36G>A (n.622-36G>A) c.589-36G>A (n.589-36G>A) c.841-36G>A (n.841-36G>A) c.733-36G>A (n.733-36G>A) c.820-6551G>A (n.820-6551G>A) c.817-36G>A (n.817-36G>A) c.502-36G>A (n.502-36G>A) | gnomAD v4 |
| 6 | g.73621999del | CA2679404170 | SLC17A5 | c.820-37del (n.820-37del) c.769-37del (n.769-37del) c.622-37del (n.622-37del) c.589-37del (n.589-37del) c.841-37del (n.841-37del) c.733-37del (n.733-37del) c.820-6552del (n.820-6552del) c.817-37del (n.817-37del) c.502-37del (n.502-37del) | gnomAD v4 |
| 6 | g.73621999T>C | CA2771705041 | SLC17A5 | c.820-37A>G (n.820-37A>G) c.769-37A>G (n.769-37A>G) c.622-37A>G (n.622-37A>G) c.589-37A>G (n.589-37A>G) c.841-37A>G (n.841-37A>G) c.733-37A>G (n.733-37A>G) c.820-6552A>G (n.820-6552A>G) c.817-37A>G (n.817-37A>G) c.502-37A>G (n.502-37A>G) | |
| 6 | g.73622000_73622001del | CA2679404171 | SLC17A5 | c.820-38_820-37del (n.820-38_820-37del) c.769-38_769-37del (n.769-38_769-37del) c.622-38_622-37del (n.622-38_622-37del) c.589-38_589-37del (n.589-38_589-37del) c.841-38_841-37del (n.841-38_841-37del) c.733-38_733-37del (n.733-38_733-37del) c.820-6553_820-6552del (n.820-6553_820-6552del) c.817-38_817-37del (n.817-38_817-37del) c.502-38_502-37del (n.502-38_502-37del) | gnomAD v4 |
| 6 | g.73622000A= | CA1638234843 | SLC17A5 | c.820-38T= (n.820-38T=) c.769-38T= (n.769-38T=) c.622-38T= (n.622-38T=) c.589-38T= (n.589-38T=) c.841-38T= (n.841-38T=) c.733-38T= (n.733-38T=) c.820-6553T= (n.820-6553T=) c.817-38T= (n.817-38T=) c.502-38T= (n.502-38T=) | |
| 6 | g.73622000A>G | CA827965460 | SLC17A5 | c.820-38T>C (n.820-38T>C) c.769-38T>C (n.769-38T>C) c.622-38T>C (n.622-38T>C) c.589-38T>C (n.589-38T>C) c.841-38T>C (n.841-38T>C) c.733-38T>C (n.733-38T>C) c.820-6553T>C (n.820-6553T>C) c.817-38T>C (n.817-38T>C) c.502-38T>C (n.502-38T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.73622001T>C | CA2578694435 | SLC17A5 | c.820-39A>G (n.820-39A>G) c.769-39A>G (n.769-39A>G) c.622-39A>G (n.622-39A>G) c.589-39A>G (n.589-39A>G) c.841-39A>G (n.841-39A>G) c.733-39A>G (n.733-39A>G) c.820-6554A>G (n.820-6554A>G) c.817-39A>G (n.817-39A>G) c.502-39A>G (n.502-39A>G) | gnomAD v4 |
| 6 | g.73622002G>T | CA2578694436 | SLC17A5 | c.820-40C>A (n.820-40C>A) c.769-40C>A (n.769-40C>A) c.622-40C>A (n.622-40C>A) c.589-40C>A (n.589-40C>A) c.841-40C>A (n.841-40C>A) c.733-40C>A (n.733-40C>A) c.820-6555C>A (n.820-6555C>A) c.817-40C>A (n.817-40C>A) c.502-40C>A (n.502-40C>A) | gnomAD v4 |
| 6 | g.73622004T>A | CA2679404172 | SLC17A5 | c.820-42A>T (n.820-42A>T) c.769-42A>T (n.769-42A>T) c.622-42A>T (n.622-42A>T) c.589-42A>T (n.589-42A>T) c.841-42A>T (n.841-42A>T) c.733-42A>T (n.733-42A>T) c.820-6557A>T (n.820-6557A>T) c.817-42A>T (n.817-42A>T) c.502-42A>T (n.502-42A>T) | gnomAD v4 |
| 6 | g.73622006A= | CA1638234844 | SLC17A5 | c.820-44T= (n.820-44T=) c.769-44T= (n.769-44T=) c.622-44T= (n.622-44T=) c.589-44T= (n.589-44T=) c.841-44T= (n.841-44T=) c.733-44T= (n.733-44T=) c.820-6559T= (n.820-6559T=) c.817-44T= (n.817-44T=) c.502-44T= (n.502-44T=) | |
| 6 | g.73622006A>T | CA3890417 | SLC17A5 | c.820-44T>A (n.820-44T>A) c.769-44T>A (n.769-44T>A) c.622-44T>A (n.622-44T>A) c.589-44T>A (n.589-44T>A) c.841-44T>A (n.841-44T>A) c.733-44T>A (n.733-44T>A) c.820-6559T>A (n.820-6559T>A) c.817-44T>A (n.817-44T>A) c.502-44T>A (n.502-44T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |