| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.73621783C>A | CA2578694430 | SLC17A5 | c.978+21G>T (n.978+21G>T) c.927+21G>T (n.927+21G>T) c.780+21G>T (n.780+21G>T) c.747+21G>T (n.747+21G>T) c.999+21G>T (n.999+21G>T) c.891+21G>T (n.891+21G>T) c.820-6336G>T (n.820-6336G>T) c.975+21G>T (n.975+21G>T) c.660+21G>T (n.660+21G>T) | gnomAD v4 |
| 6 | g.73621783C>T | CA2679404150 | SLC17A5 | c.978+21G>A (n.978+21G>A) c.927+21G>A (n.927+21G>A) c.780+21G>A (n.780+21G>A) c.747+21G>A (n.747+21G>A) c.999+21G>A (n.999+21G>A) c.891+21G>A (n.891+21G>A) c.820-6336G>A (n.820-6336G>A) c.975+21G>A (n.975+21G>A) c.660+21G>A (n.660+21G>A) | gnomAD v4 |
| 6 | g.73621785G>A | CA827965079 | SLC17A5 | c.978+19C>T (n.978+19C>T) c.927+19C>T (n.927+19C>T) c.780+19C>T (n.780+19C>T) c.747+19C>T (n.747+19C>T) c.999+19C>T (n.999+19C>T) c.891+19C>T (n.891+19C>T) c.820-6338C>T (n.820-6338C>T) c.975+19C>T (n.975+19C>T) c.660+19C>T (n.660+19C>T) | dbSNP gnomAD v4 |
| 6 | g.73621785G= | CA1638234757 | SLC17A5 | c.978+19C= (n.978+19C=) c.927+19C= (n.927+19C=) c.780+19C= (n.780+19C=) c.747+19C= (n.747+19C=) c.999+19C= (n.999+19C=) c.891+19C= (n.891+19C=) c.820-6338C= (n.820-6338C=) c.975+19C= (n.975+19C=) c.660+19C= (n.660+19C=) | |
| 6 | g.73621788_73621790del | CA2679404151 | SLC17A5 | c.978+17_978+19del (n.978+17_978+19del) c.927+17_927+19del (n.927+17_927+19del) c.780+17_780+19del (n.780+17_780+19del) c.747+17_747+19del (n.747+17_747+19del) c.999+17_999+19del (n.999+17_999+19del) c.891+17_891+19del (n.891+17_891+19del) c.820-6340_820-6338del (n.820-6340_820-6338del) c.975+17_975+19del (n.975+17_975+19del) c.660+17_660+19del (n.660+17_660+19del) | ClinVar gnomAD v4 |
| 6 | g.73621786A= | CA1638234758 | SLC17A5 | c.978+18T= (n.978+18T=) c.927+18T= (n.927+18T=) c.780+18T= (n.780+18T=) c.747+18T= (n.747+18T=) c.999+18T= (n.999+18T=) c.891+18T= (n.891+18T=) c.820-6339T= (n.820-6339T=) c.975+18T= (n.975+18T=) c.660+18T= (n.660+18T=) | |
| 6 | g.73621786A>T | CA140963041 | SLC17A5 | c.978+18T>A (n.978+18T>A) c.927+18T>A (n.927+18T>A) c.780+18T>A (n.780+18T>A) c.747+18T>A (n.747+18T>A) c.999+18T>A (n.999+18T>A) c.891+18T>A (n.891+18T>A) c.820-6339T>A (n.820-6339T>A) c.975+18T>A (n.975+18T>A) c.660+18T>A (n.660+18T>A) | ClinVar dbSNP gnomAD v4 |
| 6 | g.73621787T>A | CA2679404152 | SLC17A5 | c.978+17A>T (n.978+17A>T) c.927+17A>T (n.927+17A>T) c.780+17A>T (n.780+17A>T) c.747+17A>T (n.747+17A>T) c.999+17A>T (n.999+17A>T) c.891+17A>T (n.891+17A>T) c.820-6340A>T (n.820-6340A>T) c.975+17A>T (n.975+17A>T) c.660+17A>T (n.660+17A>T) | gnomAD v4 |
| 6 | g.73621787T>C | CA2679404153 | SLC17A5 | c.978+17A>G (n.978+17A>G) c.927+17A>G (n.927+17A>G) c.780+17A>G (n.780+17A>G) c.747+17A>G (n.747+17A>G) c.999+17A>G (n.999+17A>G) c.891+17A>G (n.891+17A>G) c.820-6340A>G (n.820-6340A>G) c.975+17A>G (n.975+17A>G) c.660+17A>G (n.660+17A>G) | gnomAD v4 |
| 6 | g.73621788G>A | CA1638234760 | SLC17A5 | c.978+16C>T (n.978+16C>T) c.927+16C>T (n.927+16C>T) c.780+16C>T (n.780+16C>T) c.747+16C>T (n.747+16C>T) c.999+16C>T (n.999+16C>T) c.891+16C>T (n.891+16C>T) c.820-6341C>T (n.820-6341C>T) c.975+16C>T (n.975+16C>T) c.660+16C>T (n.660+16C>T) | ClinVar dbSNP gnomAD v4 |
| 6 | g.73621788G= | CA1638234759 | SLC17A5 | c.978+16C= (n.978+16C=) c.927+16C= (n.927+16C=) c.780+16C= (n.780+16C=) c.747+16C= (n.747+16C=) c.999+16C= (n.999+16C=) c.891+16C= (n.891+16C=) c.820-6341C= (n.820-6341C=) c.975+16C= (n.975+16C=) c.660+16C= (n.660+16C=) | |
| 6 | g.73621788G>T | CA2679404154 | SLC17A5 | c.978+16C>A (n.978+16C>A) c.927+16C>A (n.927+16C>A) c.780+16C>A (n.780+16C>A) c.747+16C>A (n.747+16C>A) c.999+16C>A (n.999+16C>A) c.891+16C>A (n.891+16C>A) c.820-6341C>A (n.820-6341C>A) c.975+16C>A (n.975+16C>A) c.660+16C>A (n.660+16C>A) | gnomAD v4 |
| 6 | g.73621789A= | CA1638234761 | SLC17A5 | c.978+15T= (n.978+15T=) c.927+15T= (n.927+15T=) c.780+15T= (n.780+15T=) c.747+15T= (n.747+15T=) c.999+15T= (n.999+15T=) c.891+15T= (n.891+15T=) c.820-6342T= (n.820-6342T=) c.975+15T= (n.975+15T=) c.660+15T= (n.660+15T=) | |
| 6 | g.73621789A>G | CA568118730 | SLC17A5 | c.978+15T>C (n.978+15T>C) c.927+15T>C (n.927+15T>C) c.780+15T>C (n.780+15T>C) c.747+15T>C (n.747+15T>C) c.999+15T>C (n.999+15T>C) c.891+15T>C (n.891+15T>C) c.820-6342T>C (n.820-6342T>C) c.975+15T>C (n.975+15T>C) c.660+15T>C (n.660+15T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73621792_73621794del | CA2679404155 | SLC17A5 | c.978+13_978+15del (n.978+13_978+15del) c.927+13_927+15del (n.927+13_927+15del) c.780+13_780+15del (n.780+13_780+15del) c.747+13_747+15del (n.747+13_747+15del) c.999+13_999+15del (n.999+13_999+15del) c.891+13_891+15del (n.891+13_891+15del) c.820-6344_820-6342del (n.820-6344_820-6342del) c.975+13_975+15del (n.975+13_975+15del) c.660+13_660+15del (n.660+13_660+15del) | ClinVar gnomAD v4 |
| 6 | g.73621790T>C | CA2679404156 | SLC17A5 | c.978+14A>G (n.978+14A>G) c.927+14A>G (n.927+14A>G) c.780+14A>G (n.780+14A>G) c.747+14A>G (n.747+14A>G) c.999+14A>G (n.999+14A>G) c.891+14A>G (n.891+14A>G) c.820-6343A>G (n.820-6343A>G) c.975+14A>G (n.975+14A>G) c.660+14A>G (n.660+14A>G) | gnomAD v4 |
| 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.73621793T>G | CA3890385 | SLC17A5 | c.978+11A>C (n.978+11A>C) c.927+11A>C (n.927+11A>C) c.780+11A>C (n.780+11A>C) c.747+11A>C (n.747+11A>C) c.999+11A>C (n.999+11A>C) c.891+11A>C (n.891+11A>C) c.820-6346A>C (n.820-6346A>C) c.975+11A>C (n.975+11A>C) c.660+11A>C (n.660+11A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73621793T= | CA1638234762 | SLC17A5 | c.978+11A= (n.978+11A=) c.927+11A= (n.927+11A=) c.780+11A= (n.780+11A=) c.747+11A= (n.747+11A=) c.999+11A= (n.999+11A=) c.891+11A= (n.891+11A=) c.820-6346A= (n.820-6346A=) c.975+11A= (n.975+11A=) c.660+11A= (n.660+11A=) | |
| 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.73621794T>A | CA3890386 | SLC17A5 | c.978+10A>T (n.978+10A>T) c.927+10A>T (n.927+10A>T) c.780+10A>T (n.780+10A>T) c.747+10A>T (n.747+10A>T) c.999+10A>T (n.999+10A>T) c.891+10A>T (n.891+10A>T) c.820-6347A>T (n.820-6347A>T) c.975+10A>T (n.975+10A>T) c.660+10A>T (n.660+10A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73621794T= | CA1638234763 | SLC17A5 | c.978+10A= (n.978+10A=) c.927+10A= (n.927+10A=) c.780+10A= (n.780+10A=) c.747+10A= (n.747+10A=) c.999+10A= (n.999+10A=) c.891+10A= (n.891+10A=) c.820-6347A= (n.820-6347A=) c.975+10A= (n.975+10A=) c.660+10A= (n.660+10A=) | |
| 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) |