WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.73621792_73621798dup | CA3890384 | SLC17A5 | c.978+8_978+14dup (n.978+8_978+14dup) c.927+8_927+14dup (n.927+8_927+14dup) c.780+8_780+14dup (n.780+8_780+14dup) c.747+8_747+14dup (n.747+8_747+14dup) c.999+8_999+14dup (n.999+8_999+14dup) c.891+8_891+14dup (n.891+8_891+14dup) c.820-6349_820-6343dup (n.820-6349_820-6343dup) c.975+8_975+14dup (n.975+8_975+14dup) c.660+8_660+14dup (n.660+8_660+14dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73621798dup | CA2573141126 | SLC17A5 | c.978+11dup (n.978+11dup) c.927+11dup (n.927+11dup) c.780+11dup (n.780+11dup) c.747+11dup (n.747+11dup) c.999+11dup (n.999+11dup) c.891+11dup (n.891+11dup) c.820-6346dup (n.820-6346dup) c.975+11dup (n.975+11dup) c.660+11dup (n.660+11dup) | ClinVar dbSNP |
| 6 | g.73621802A>C | CA364713158 | SLC17A5 | c.978+2T>G (n.978+2T>G) c.927+2T>G (n.927+2T>G) c.780+2T>G (n.780+2T>G) c.747+2T>G (n.747+2T>G) c.999+2T>G (n.999+2T>G) c.891+2T>G (n.891+2T>G) c.820-6355T>G (n.820-6355T>G) c.975+2T>G (n.975+2T>G) c.660+2T>G (n.660+2T>G) | |
| 6 | g.73621802A>G | CA364713159 | SLC17A5 | c.978+2T>C (n.978+2T>C) c.927+2T>C (n.927+2T>C) c.780+2T>C (n.780+2T>C) c.747+2T>C (n.747+2T>C) c.999+2T>C (n.999+2T>C) c.891+2T>C (n.891+2T>C) c.820-6355T>C (n.820-6355T>C) c.975+2T>C (n.975+2T>C) c.660+2T>C (n.660+2T>C) | gnomAD v4 |
| 6 | g.73621802A>T | CA364713160 | SLC17A5 | c.978+2T>A (n.978+2T>A) c.927+2T>A (n.927+2T>A) c.780+2T>A (n.780+2T>A) c.747+2T>A (n.747+2T>A) c.999+2T>A (n.999+2T>A) c.891+2T>A (n.891+2T>A) c.820-6355T>A (n.820-6355T>A) c.975+2T>A (n.975+2T>A) c.660+2T>A (n.660+2T>A) | |
| 6 | g.73621803C>A | CA364713161 | SLC17A5 | c.978+1G>T (n.978+1G>T) c.927+1G>T (n.927+1G>T) c.780+1G>T (n.780+1G>T) c.747+1G>T (n.747+1G>T) c.999+1G>T (n.999+1G>T) c.891+1G>T (n.891+1G>T) c.820-6356G>T (n.820-6356G>T) c.975+1G>T (n.975+1G>T) c.660+1G>T (n.660+1G>T) | |
| 6 | g.73621803C>G | CA364713162 | SLC17A5 | c.978+1G>C (n.978+1G>C) c.927+1G>C (n.927+1G>C) c.780+1G>C (n.780+1G>C) c.747+1G>C (n.747+1G>C) c.999+1G>C (n.999+1G>C) c.891+1G>C (n.891+1G>C) c.820-6356G>C (n.820-6356G>C) c.975+1G>C (n.975+1G>C) c.660+1G>C (n.660+1G>C) | |
| 6 | g.73621803C>T | CA364713163 | SLC17A5 | c.978+1G>A (n.978+1G>A) c.927+1G>A (n.927+1G>A) c.780+1G>A (n.780+1G>A) c.747+1G>A (n.747+1G>A) c.999+1G>A (n.999+1G>A) c.891+1G>A (n.891+1G>A) c.820-6356G>A (n.820-6356G>A) c.975+1G>A (n.975+1G>A) c.660+1G>A (n.660+1G>A) | ClinVar dbSNP gnomAD v4 |
| 6 | g.73621804C>A | CA364713164 | SLC17A5 | c.978G>T (p.Glu326Asp) c.927G>T (p.Glu309Asp) c.780G>T (p.Glu260Asp) c.747G>T (p.Glu249Asp) c.999G>T (p.Glu333Asp) c.891G>T (p.Glu297Asp) c.820-6357G>T (n.820-6357G>T) c.975G>T (p.Glu325Asp) c.660G>T (p.Glu220Asp) | |
| 6 | g.73621804C>G | CA364713165 | SLC17A5 | c.978G>C (p.Glu326Asp) c.927G>C (p.Glu309Asp) c.780G>C (p.Glu260Asp) c.747G>C (p.Glu249Asp) c.999G>C (p.Glu333Asp) c.891G>C (p.Glu297Asp) c.820-6357G>C (n.820-6357G>C) c.975G>C (p.Glu325Asp) c.660G>C (p.Glu220Asp) | |
| 6 | g.73621804C>T | CA450910850 | SLC17A5 | c.978G>A (p.Glu326=) c.927G>A (p.Glu309=) c.780G>A (p.Glu260=) c.747G>A (p.Glu249=) c.999G>A (p.Glu333=) c.891G>A (p.Glu297=) c.820-6357G>A (n.820-6357G>A) c.975G>A (p.Glu325=) c.660G>A (p.Glu220=) | gnomAD v4 |
| 6 | g.73621805T>A | CA364713166 | SLC17A5 | c.977A>T (p.Glu326Val) c.926A>T (p.Glu309Val) c.779A>T (p.Glu260Val) c.746A>T (p.Glu249Val) c.998A>T (p.Glu333Val) c.890A>T (p.Glu297Val) c.820-6358A>T (n.820-6358A>T) c.974A>T (p.Glu325Val) c.659A>T (p.Glu220Val) | |
| 6 | g.73621805T>C | CA364713167 | SLC17A5 | c.977A>G (p.Glu326Gly) c.926A>G (p.Glu309Gly) c.779A>G (p.Glu260Gly) c.746A>G (p.Glu249Gly) c.998A>G (p.Glu333Gly) c.890A>G (p.Glu297Gly) c.820-6358A>G (n.820-6358A>G) c.974A>G (p.Glu325Gly) c.659A>G (p.Glu220Gly) | |
| 6 | g.73621805T>G | CA364713168 | SLC17A5 | c.977A>C (p.Glu326Ala) c.926A>C (p.Glu309Ala) c.779A>C (p.Glu260Ala) c.746A>C (p.Glu249Ala) c.998A>C (p.Glu333Ala) c.890A>C (p.Glu297Ala) c.820-6358A>C (n.820-6358A>C) c.974A>C (p.Glu325Ala) c.659A>C (p.Glu220Ala) | |
| 6 | g.73621805T= | CA1638234764 | SLC17A5 | c.977A= (p.Glu326=) c.926A= (p.Glu309=) c.779A= (p.Glu260=) c.746A= (p.Glu249=) c.998A= (p.Glu333=) c.890A= (p.Glu297=) c.820-6358A= (n.820-6358A=) c.974A= (p.Glu325=) c.659A= (p.Glu220=) | |
| 6 | g.73621806C>A | CA364713169 | SLC17A5 | c.976G>T (p.Glu326Ter) c.925G>T (p.Glu309Ter) c.778G>T (p.Glu260Ter) c.745G>T (p.Glu249Ter) c.997G>T (p.Glu333Ter) c.889G>T (p.Glu297Ter) c.820-6359G>T (n.820-6359G>T) c.973G>T (p.Glu325Ter) c.658G>T (p.Glu220Ter) | ClinVar dbSNP |
| 6 | g.73621806C= | CA1638234765 | SLC17A5 | c.976G= (p.Glu326=) c.925G= (p.Glu309=) c.778G= (p.Glu260=) c.745G= (p.Glu249=) c.997G= (p.Glu333=) c.889G= (p.Glu297=) c.820-6359G= (n.820-6359G=) c.973G= (p.Glu325=) c.658G= (p.Glu220=) | |
| 6 | g.73621806C>G | CA364713170 | SLC17A5 | c.976G>C (p.Glu326Gln) c.925G>C (p.Glu309Gln) c.778G>C (p.Glu260Gln) c.745G>C (p.Glu249Gln) c.997G>C (p.Glu333Gln) c.889G>C (p.Glu297Gln) c.820-6359G>C (n.820-6359G>C) c.973G>C (p.Glu325Gln) c.658G>C (p.Glu220Gln) | |
| 6 | g.73621806C>T | CA140963049 | SLC17A5 | c.976G>A (p.Glu326Lys) c.925G>A (p.Glu309Lys) c.778G>A (p.Glu260Lys) c.745G>A (p.Glu249Lys) c.997G>A (p.Glu333Lys) c.889G>A (p.Glu297Lys) c.820-6359G>A (n.820-6359G>A) c.973G>A (p.Glu325Lys) c.658G>A (p.Glu220Lys) | dbSNP gnomAD v4 |
| 6 | g.73621806dup | CA568118731 | SLC17A5 | c.976dup (p.Glu326GlyfsTer25) c.925dup (p.Glu309GlyfsTer25) c.778dup (p.Glu260GlyfsTer25) c.745dup (p.Glu249GlyfsTer25) c.997dup (p.Glu333GlyfsTer25) c.889dup (p.Glu297GlyfsTer25) c.820-6359dup (n.820-6359dup) c.973dup (p.Glu325GlyfsTer25) c.658dup (p.Glu220GlyfsTer25) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73621807_73621819del | CA2573141127 | SLC17A5 | c.964_976del (p.Phe322ArgfsTer11) c.913_925del (p.Phe305ArgfsTer11) c.766_778del (p.Phe256ArgfsTer11) c.733_745del (p.Phe245ArgfsTer11) c.985_997del (p.Phe329ArgfsTer11) c.877_889del (p.Phe293ArgfsTer11) c.820-6371_820-6359del (n.820-6371_820-6359del) c.961_973del (p.Phe321ArgfsTer11) c.646_658del (p.Phe216ArgfsTer11) | ClinVar dbSNP |
| 6 | g.73621807T>A | CA364713172 | SLC17A5 | c.975A>T (p.Gln325His) c.924A>T (p.Gln308His) c.777A>T (p.Gln259His) c.744A>T (p.Gln248His) c.996A>T (p.Gln332His) c.888A>T (p.Gln296His) c.820-6360A>T (n.820-6360A>T) c.972A>T (p.Gln324His) c.657A>T (p.Gln219His) | |
| 6 | g.73621807T>C | CA450910851 | SLC17A5 | c.975A>G (p.Gln325=) c.924A>G (p.Gln308=) c.777A>G (p.Gln259=) c.744A>G (p.Gln248=) c.996A>G (p.Gln332=) c.888A>G (p.Gln296=) c.820-6360A>G (n.820-6360A>G) c.972A>G (p.Gln324=) c.657A>G (p.Gln219=) | gnomAD v4 |
| 6 | g.73621807T>G | CA364713171 | SLC17A5 | c.975A>C (p.Gln325His) c.924A>C (p.Gln308His) c.777A>C (p.Gln259His) c.744A>C (p.Gln248His) c.996A>C (p.Gln332His) c.888A>C (p.Gln296His) c.820-6360A>C (n.820-6360A>C) c.972A>C (p.Gln324His) c.657A>C (p.Gln219His) | |
| 6 | g.73621808T>A | CA364713173 | SLC17A5 | c.974A>T (p.Gln325Leu) c.923A>T (p.Gln308Leu) c.776A>T (p.Gln259Leu) c.743A>T (p.Gln248Leu) c.995A>T (p.Gln332Leu) c.887A>T (p.Gln296Leu) c.820-6361A>T (n.820-6361A>T) c.971A>T (p.Gln324Leu) c.656A>T (p.Gln219Leu) | |
| 6 | g.73621808T>C | CA364713174 | SLC17A5 | c.974A>G (p.Gln325Arg) c.923A>G (p.Gln308Arg) c.776A>G (p.Gln259Arg) c.743A>G (p.Gln248Arg) c.995A>G (p.Gln332Arg) c.887A>G (p.Gln296Arg) c.820-6361A>G (n.820-6361A>G) c.971A>G (p.Gln324Arg) c.656A>G (p.Gln219Arg) | |
| 6 | g.73621808T>G | CA3890387 | SLC17A5 | c.974A>C (p.Gln325Pro) c.923A>C (p.Gln308Pro) c.776A>C (p.Gln259Pro) c.743A>C (p.Gln248Pro) c.995A>C (p.Gln332Pro) c.887A>C (p.Gln296Pro) c.820-6361A>C (n.820-6361A>C) c.971A>C (p.Gln324Pro) c.656A>C (p.Gln219Pro) | dbSNP ExAC gnomAD v2 |
| 6 | g.73621808T= | CA1638234766 | SLC17A5 | c.974A= (p.Gln325=) c.923A= (p.Gln308=) c.776A= (p.Gln259=) c.743A= (p.Gln248=) c.995A= (p.Gln332=) c.887A= (p.Gln296=) c.820-6361A= (n.820-6361A=) c.971A= (p.Gln324=) c.656A= (p.Gln219=) | |
| 6 | g.73621809G>A | CA364713175 | SLC17A5 | c.973C>T (p.Gln325Ter) c.922C>T (p.Gln308Ter) c.775C>T (p.Gln259Ter) c.742C>T (p.Gln248Ter) c.994C>T (p.Gln332Ter) c.886C>T (p.Gln296Ter) c.820-6362C>T (n.820-6362C>T) c.970C>T (p.Gln324Ter) c.655C>T (p.Gln219Ter) | |
| 6 | g.73621809G>C | CA364713176 | SLC17A5 | c.973C>G (p.Gln325Glu) c.922C>G (p.Gln308Glu) c.775C>G (p.Gln259Glu) c.742C>G (p.Gln248Glu) c.994C>G (p.Gln332Glu) c.886C>G (p.Gln296Glu) c.820-6362C>G (n.820-6362C>G) c.970C>G (p.Gln324Glu) c.655C>G (p.Gln219Glu) | |
| 6 | g.73621809G>T | CA364713177 | SLC17A5 | c.973C>A (p.Gln325Lys) c.922C>A (p.Gln308Lys) c.775C>A (p.Gln259Lys) c.742C>A (p.Gln248Lys) c.994C>A (p.Gln332Lys) c.886C>A (p.Gln296Lys) c.820-6362C>A (n.820-6362C>A) c.970C>A (p.Gln324Lys) c.655C>A (p.Gln219Lys) | gnomAD v4 |
| 6 | g.73621810A>C | CA450910852 | SLC17A5 | c.972T>G (p.Val324=) c.921T>G (p.Val307=) c.774T>G (p.Val258=) c.741T>G (p.Val247=) c.993T>G (p.Val331=) c.885T>G (p.Val295=) c.820-6363T>G (n.820-6363T>G) c.969T>G (p.Val323=) c.654T>G (p.Val218=) | |
| 6 | g.73621810A>G | CA450910853 | SLC17A5 | c.972T>C (p.Val324=) c.921T>C (p.Val307=) c.774T>C (p.Val258=) c.741T>C (p.Val247=) c.993T>C (p.Val331=) c.885T>C (p.Val295=) c.820-6363T>C (n.820-6363T>C) c.969T>C (p.Val323=) c.654T>C (p.Val218=) | ClinVar |
| 6 | g.73621810A>T | CA450910854 | SLC17A5 | c.972T>A (p.Val324=) c.921T>A (p.Val307=) c.774T>A (p.Val258=) c.741T>A (p.Val247=) c.993T>A (p.Val331=) c.885T>A (p.Val295=) c.820-6363T>A (n.820-6363T>A) c.969T>A (p.Val323=) c.654T>A (p.Val218=) | |
| 6 | g.73621811A>C | CA364713178 | SLC17A5 | c.971T>G (p.Val324Gly) c.920T>G (p.Val307Gly) c.773T>G (p.Val258Gly) c.740T>G (p.Val247Gly) c.992T>G (p.Val331Gly) c.884T>G (p.Val295Gly) c.820-6364T>G (n.820-6364T>G) c.968T>G (p.Val323Gly) c.653T>G (p.Val218Gly) | |
| 6 | g.73621811A>G | CA364713180 | SLC17A5 | c.971T>C (p.Val324Ala) c.920T>C (p.Val307Ala) c.773T>C (p.Val258Ala) c.740T>C (p.Val247Ala) c.992T>C (p.Val331Ala) c.884T>C (p.Val295Ala) c.820-6364T>C (n.820-6364T>C) c.968T>C (p.Val323Ala) c.653T>C (p.Val218Ala) | |
| 6 | g.73621811A>T | CA364713179 | SLC17A5 | c.971T>A (p.Val324Asp) c.920T>A (p.Val307Asp) c.773T>A (p.Val258Asp) c.740T>A (p.Val247Asp) c.992T>A (p.Val331Asp) c.884T>A (p.Val295Asp) c.820-6364T>A (n.820-6364T>A) c.968T>A (p.Val323Asp) c.653T>A (p.Val218Asp) | |
| 6 | g.73621812C>A | CA364713181 | SLC17A5 | c.970G>T (p.Val324Phe) c.919G>T (p.Val307Phe) c.772G>T (p.Val258Phe) c.739G>T (p.Val247Phe) c.991G>T (p.Val331Phe) c.883G>T (p.Val295Phe) c.820-6365G>T (n.820-6365G>T) c.967G>T (p.Val323Phe) c.652G>T (p.Val218Phe) | |
| 6 | g.73621812C>G | CA364713182 | SLC17A5 | c.970G>C (p.Val324Leu) c.919G>C (p.Val307Leu) c.772G>C (p.Val258Leu) c.739G>C (p.Val247Leu) c.991G>C (p.Val331Leu) c.883G>C (p.Val295Leu) c.820-6365G>C (n.820-6365G>C) c.967G>C (p.Val323Leu) c.652G>C (p.Val218Leu) | |
| 6 | g.73621812C>T | CA364713183 | SLC17A5 | c.970G>A (p.Val324Ile) c.919G>A (p.Val307Ile) c.772G>A (p.Val258Ile) c.739G>A (p.Val247Ile) c.991G>A (p.Val331Ile) c.883G>A (p.Val295Ile) c.820-6365G>A (n.820-6365G>A) c.967G>A (p.Val323Ile) c.652G>A (p.Val218Ile) | |
| 6 | g.73621813A>C | CA364713184 | SLC17A5 | c.969T>G (p.Asn323Lys) c.918T>G (p.Asn306Lys) c.771T>G (p.Asn257Lys) c.738T>G (p.Asn246Lys) c.990T>G (p.Asn330Lys) c.882T>G (p.Asn294Lys) c.820-6366T>G (n.820-6366T>G) c.966T>G (p.Asn322Lys) c.651T>G (p.Asn217Lys) | |
| 6 | g.73621813A>G | CA450910855 | SLC17A5 | c.969T>C (p.Asn323=) c.918T>C (p.Asn306=) c.771T>C (p.Asn257=) c.738T>C (p.Asn246=) c.990T>C (p.Asn330=) c.882T>C (p.Asn294=) c.820-6366T>C (n.820-6366T>C) c.966T>C (p.Asn322=) c.651T>C (p.Asn217=) | gnomAD v4 |
| 6 | g.73621813A>T | CA364713185 | SLC17A5 | c.969T>A (p.Asn323Lys) c.918T>A (p.Asn306Lys) c.771T>A (p.Asn257Lys) c.738T>A (p.Asn246Lys) c.990T>A (p.Asn330Lys) c.882T>A (p.Asn294Lys) c.820-6366T>A (n.820-6366T>A) c.966T>A (p.Asn322Lys) c.651T>A (p.Asn217Lys) | |
| 6 | g.73621814T>A | CA364713186 | SLC17A5 | c.968A>T (p.Asn323Ile) c.917A>T (p.Asn306Ile) c.770A>T (p.Asn257Ile) c.737A>T (p.Asn246Ile) c.989A>T (p.Asn330Ile) c.881A>T (p.Asn294Ile) c.820-6367A>T (n.820-6367A>T) c.965A>T (p.Asn322Ile) c.650A>T (p.Asn217Ile) | |
| 6 | g.73621814T>C | CA3890388 | SLC17A5 | c.968A>G (p.Asn323Ser) c.917A>G (p.Asn306Ser) c.770A>G (p.Asn257Ser) c.737A>G (p.Asn246Ser) c.989A>G (p.Asn330Ser) c.881A>G (p.Asn294Ser) c.820-6367A>G (n.820-6367A>G) c.965A>G (p.Asn322Ser) c.650A>G (p.Asn217Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73621814T>G | CA364713187 | SLC17A5 | c.968A>C (p.Asn323Thr) c.917A>C (p.Asn306Thr) c.770A>C (p.Asn257Thr) c.737A>C (p.Asn246Thr) c.989A>C (p.Asn330Thr) c.881A>C (p.Asn294Thr) c.820-6367A>C (n.820-6367A>C) c.965A>C (p.Asn322Thr) c.650A>C (p.Asn217Thr) | |
| 6 | g.73621814T= | CA1638234767 | SLC17A5 | c.968A= (p.Asn323=) c.917A= (p.Asn306=) c.770A= (p.Asn257=) c.737A= (p.Asn246=) c.989A= (p.Asn330=) c.881A= (p.Asn294=) c.820-6367A= (n.820-6367A=) c.965A= (p.Asn322=) c.650A= (p.Asn217=) | |
| 6 | g.73621815T>A | CA364713188 | SLC17A5 | c.967A>T (p.Asn323Tyr) c.916A>T (p.Asn306Tyr) c.769A>T (p.Asn257Tyr) c.736A>T (p.Asn246Tyr) c.988A>T (p.Asn330Tyr) c.880A>T (p.Asn294Tyr) c.820-6368A>T (n.820-6368A>T) c.964A>T (p.Asn322Tyr) c.649A>T (p.Asn217Tyr) | |
| 6 | g.73621815T>C | CA364713190 | SLC17A5 | c.967A>G (p.Asn323Asp) c.916A>G (p.Asn306Asp) c.769A>G (p.Asn257Asp) c.736A>G (p.Asn246Asp) c.988A>G (p.Asn330Asp) c.880A>G (p.Asn294Asp) c.820-6368A>G (n.820-6368A>G) c.964A>G (p.Asn322Asp) c.649A>G (p.Asn217Asp) | |
| 6 | g.73621815T>G | CA364713191 | SLC17A5 | c.967A>C (p.Asn323His) c.916A>C (p.Asn306His) c.769A>C (p.Asn257His) c.736A>C (p.Asn246His) c.988A>C (p.Asn330His) c.880A>C (p.Asn294His) c.820-6368A>C (n.820-6368A>C) c.964A>C (p.Asn322His) c.649A>C (p.Asn217His) |