Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.73621883G>A | CA236266 | SLC17A5 | c.899C>T (p.Ser300Phe) c.848C>T (p.Ser283Phe) c.701C>T (p.Ser234Phe) c.668C>T (p.Ser223Phe) c.920C>T (p.Ser307Phe) c.812C>T (p.Ser271Phe) c.820-6436C>T (n.820-6436C>T) c.896C>T (p.Ser299Phe) c.581C>T (p.Ser194Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73621883G>C | CA364713527 | SLC17A5 | c.899C>G (p.Ser300Cys) c.848C>G (p.Ser283Cys) c.701C>G (p.Ser234Cys) c.668C>G (p.Ser223Cys) c.920C>G (p.Ser307Cys) c.812C>G (p.Ser271Cys) c.820-6436C>G (n.820-6436C>G) c.896C>G (p.Ser299Cys) c.581C>G (p.Ser194Cys) | dbSNP |
6 | g.73621883G= | CA1638234792 | SLC17A5 | c.899C= (p.Ser300=) c.848C= (p.Ser283=) c.701C= (p.Ser234=) c.668C= (p.Ser223=) c.920C= (p.Ser307=) c.812C= (p.Ser271=) c.820-6436C= (n.820-6436C=) c.896C= (p.Ser299=) c.581C= (p.Ser194=) | |
6 | g.73621883G>T | CA364713528 | SLC17A5 | c.899C>A (p.Ser300Tyr) c.848C>A (p.Ser283Tyr) c.701C>A (p.Ser234Tyr) c.668C>A (p.Ser223Tyr) c.920C>A (p.Ser307Tyr) c.812C>A (p.Ser271Tyr) c.820-6436C>A (n.820-6436C>A) c.896C>A (p.Ser299Tyr) c.581C>A (p.Ser194Tyr) | |
6 | g.73621883_73621884insGAAAA | CA2679404158 | SLC17A5 | c.898_899insTTTTC (p.Ser300PhefsTer12) c.847_848insTTTTC (p.Ser283PhefsTer12) c.700_701insTTTTC (p.Ser234PhefsTer12) c.667_668insTTTTC (p.Ser223PhefsTer12) c.919_920insTTTTC (p.Ser307PhefsTer12) c.811_812insTTTTC (p.Ser271PhefsTer12) c.820-6437_820-6436insTTTTC (n.820-6437_820-6436insTTTTC) c.895_896insTTTTC (p.Ser299PhefsTer12) c.580_581insTTTTC (p.Ser194PhefsTer12) | gnomAD v4 |
6 | g.73621884A>C | CA364713534 | SLC17A5 | c.898T>G (p.Ser300Ala) c.847T>G (p.Ser283Ala) c.700T>G (p.Ser234Ala) c.667T>G (p.Ser223Ala) c.919T>G (p.Ser307Ala) c.811T>G (p.Ser271Ala) c.820-6437T>G (n.820-6437T>G) c.895T>G (p.Ser299Ala) c.580T>G (p.Ser194Ala) | |
6 | g.73621884A>G | CA364713531 | SLC17A5 | c.898T>C (p.Ser300Pro) c.847T>C (p.Ser283Pro) c.700T>C (p.Ser234Pro) c.667T>C (p.Ser223Pro) c.919T>C (p.Ser307Pro) c.811T>C (p.Ser271Pro) c.820-6437T>C (n.820-6437T>C) c.895T>C (p.Ser299Pro) c.580T>C (p.Ser194Pro) | gnomAD v4 |
6 | g.73621884A>T | CA364713533 | SLC17A5 | c.898T>A (p.Ser300Thr) c.847T>A (p.Ser283Thr) c.700T>A (p.Ser234Thr) c.667T>A (p.Ser223Thr) c.919T>A (p.Ser307Thr) c.811T>A (p.Ser271Thr) c.820-6437T>A (n.820-6437T>A) c.895T>A (p.Ser299Thr) c.580T>A (p.Ser194Thr) | |
6 | g.73621885A>C | CA364713536 | SLC17A5 | c.897T>G (p.Phe299Leu) c.846T>G (p.Phe282Leu) c.699T>G (p.Phe233Leu) c.666T>G (p.Phe222Leu) c.918T>G (p.Phe306Leu) c.810T>G (p.Phe270Leu) c.820-6438T>G (n.820-6438T>G) c.894T>G (p.Phe298Leu) c.579T>G (p.Phe193Leu) | |
6 | g.73621885A>G | CA450910895 | SLC17A5 | c.897T>C (p.Phe299=) c.846T>C (p.Phe282=) c.699T>C (p.Phe233=) c.666T>C (p.Phe222=) c.918T>C (p.Phe306=) c.810T>C (p.Phe270=) c.820-6438T>C (n.820-6438T>C) c.894T>C (p.Phe298=) c.579T>C (p.Phe193=) | |
6 | g.73621885A>T | CA364713538 | SLC17A5 | c.897T>A (p.Phe299Leu) c.846T>A (p.Phe282Leu) c.699T>A (p.Phe233Leu) c.666T>A (p.Phe222Leu) c.918T>A (p.Phe306Leu) c.810T>A (p.Phe270Leu) c.820-6438T>A (n.820-6438T>A) c.894T>A (p.Phe298Leu) c.579T>A (p.Phe193Leu) | gnomAD v4 |
6 | g.73621886A>C | CA364713541 | SLC17A5 | c.896T>G (p.Phe299Cys) c.845T>G (p.Phe282Cys) c.698T>G (p.Phe233Cys) c.665T>G (p.Phe222Cys) c.917T>G (p.Phe306Cys) c.809T>G (p.Phe270Cys) c.820-6439T>G (n.820-6439T>G) c.893T>G (p.Phe298Cys) c.578T>G (p.Phe193Cys) | |
6 | g.73621886A>G | CA364713543 | SLC17A5 | c.896T>C (p.Phe299Ser) c.845T>C (p.Phe282Ser) c.698T>C (p.Phe233Ser) c.665T>C (p.Phe222Ser) c.917T>C (p.Phe306Ser) c.809T>C (p.Phe270Ser) c.820-6439T>C (n.820-6439T>C) c.893T>C (p.Phe298Ser) c.578T>C (p.Phe193Ser) | |
6 | g.73621886A>T | CA364713545 | SLC17A5 | c.896T>A (p.Phe299Tyr) c.845T>A (p.Phe282Tyr) c.698T>A (p.Phe233Tyr) c.665T>A (p.Phe222Tyr) c.917T>A (p.Phe306Tyr) c.809T>A (p.Phe270Tyr) c.820-6439T>A (n.820-6439T>A) c.893T>A (p.Phe298Tyr) c.578T>A (p.Phe193Tyr) | |
6 | g.73621887A= | CA1638234793 | SLC17A5 | c.895T= (p.Phe299=) c.844T= (p.Phe282=) c.697T= (p.Phe233=) c.664T= (p.Phe222=) c.916T= (p.Phe306=) c.808T= (p.Phe270=) c.820-6440T= (n.820-6440T=) c.892T= (p.Phe298=) c.577T= (p.Phe193=) | |
6 | g.73621887A>C | CA364713547 | SLC17A5 | c.895T>G (p.Phe299Val) c.844T>G (p.Phe282Val) c.697T>G (p.Phe233Val) c.664T>G (p.Phe222Val) c.916T>G (p.Phe306Val) c.808T>G (p.Phe270Val) c.820-6440T>G (n.820-6440T>G) c.892T>G (p.Phe298Val) c.577T>G (p.Phe193Val) | |
6 | g.73621887A>G | CA3890398 | SLC17A5 | c.895T>C (p.Phe299Leu) c.844T>C (p.Phe282Leu) c.697T>C (p.Phe233Leu) c.664T>C (p.Phe222Leu) c.916T>C (p.Phe306Leu) c.808T>C (p.Phe270Leu) c.820-6440T>C (n.820-6440T>C) c.892T>C (p.Phe298Leu) c.577T>C (p.Phe193Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.73621887A>T | CA3890397 | SLC17A5 | c.895T>A (p.Phe299Ile) c.844T>A (p.Phe282Ile) c.697T>A (p.Phe233Ile) c.664T>A (p.Phe222Ile) c.916T>A (p.Phe306Ile) c.808T>A (p.Phe270Ile) c.820-6440T>A (n.820-6440T>A) c.892T>A (p.Phe298Ile) c.577T>A (p.Phe193Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73621888G>A | CA450910896 | SLC17A5 | c.894C>T (p.His298=) c.843C>T (p.His281=) c.696C>T (p.His232=) c.663C>T (p.His221=) c.915C>T (p.His305=) c.807C>T (p.His269=) c.820-6441C>T (n.820-6441C>T) c.891C>T (p.His297=) c.576C>T (p.His192=) | |
6 | g.73621888G>C | CA364713551 | SLC17A5 | c.894C>G (p.His298Gln) c.843C>G (p.His281Gln) c.696C>G (p.His232Gln) c.663C>G (p.His221Gln) c.915C>G (p.His305Gln) c.807C>G (p.His269Gln) c.820-6441C>G (n.820-6441C>G) c.891C>G (p.His297Gln) c.576C>G (p.His192Gln) | gnomAD v4 |
6 | g.73621888G= | CA1638234794 | SLC17A5 | c.894C= (p.His298=) c.843C= (p.His281=) c.696C= (p.His232=) c.663C= (p.His221=) c.915C= (p.His305=) c.807C= (p.His269=) c.820-6441C= (n.820-6441C=) c.891C= (p.His297=) c.576C= (p.His192=) | |
6 | g.73621888G>T | CA364713553 | SLC17A5 | c.894C>A (p.His298Gln) c.843C>A (p.His281Gln) c.696C>A (p.His232Gln) c.663C>A (p.His221Gln) c.915C>A (p.His305Gln) c.807C>A (p.His269Gln) c.820-6441C>A (n.820-6441C>A) c.891C>A (p.His297Gln) c.576C>A (p.His192Gln) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.73621889T>A | CA364713555 | SLC17A5 | c.893A>T (p.His298Leu) c.842A>T (p.His281Leu) c.695A>T (p.His232Leu) c.662A>T (p.His221Leu) c.914A>T (p.His305Leu) c.806A>T (p.His269Leu) c.820-6442A>T (n.820-6442A>T) c.890A>T (p.His297Leu) c.575A>T (p.His192Leu) | |
6 | g.73621889T>C | CA140963153 | SLC17A5 | c.893A>G (p.His298Arg) c.842A>G (p.His281Arg) c.695A>G (p.His232Arg) c.662A>G (p.His221Arg) c.914A>G (p.His305Arg) c.806A>G (p.His269Arg) c.820-6442A>G (n.820-6442A>G) c.890A>G (p.His297Arg) c.575A>G (p.His192Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73621889T>G | CA364713559 | SLC17A5 | c.893A>C (p.His298Pro) c.842A>C (p.His281Pro) c.695A>C (p.His232Pro) c.662A>C (p.His221Pro) c.914A>C (p.His305Pro) c.806A>C (p.His269Pro) c.820-6442A>C (n.820-6442A>C) c.890A>C (p.His297Pro) c.575A>C (p.His192Pro) | |
6 | g.73621889T= | CA1638234795 | SLC17A5 | c.893A= (p.His298=) c.842A= (p.His281=) c.695A= (p.His232=) c.662A= (p.His221=) c.914A= (p.His305=) c.806A= (p.His269=) c.820-6442A= (n.820-6442A=) c.890A= (p.His297=) c.575A= (p.His192=) | |
6 | g.73621890G>A | CA364713561 | SLC17A5 | c.892C>T (p.His298Tyr) c.841C>T (p.His281Tyr) c.694C>T (p.His232Tyr) c.661C>T (p.His221Tyr) c.913C>T (p.His305Tyr) c.805C>T (p.His269Tyr) c.820-6443C>T (n.820-6443C>T) c.889C>T (p.His297Tyr) c.574C>T (p.His192Tyr) | gnomAD v4 |
6 | g.73621890G>C | CA364713563 | SLC17A5 | c.892C>G (p.His298Asp) c.841C>G (p.His281Asp) c.694C>G (p.His232Asp) c.661C>G (p.His221Asp) c.913C>G (p.His305Asp) c.805C>G (p.His269Asp) c.820-6443C>G (n.820-6443C>G) c.889C>G (p.His297Asp) c.574C>G (p.His192Asp) | |
6 | g.73621890G>T | CA364713565 | SLC17A5 | c.892C>A (p.His298Asn) c.841C>A (p.His281Asn) c.694C>A (p.His232Asn) c.661C>A (p.His221Asn) c.913C>A (p.His305Asn) c.805C>A (p.His269Asn) c.820-6443C>A (n.820-6443C>A) c.889C>A (p.His297Asn) c.574C>A (p.His192Asn) | |
6 | g.73621891T>A | CA450910897 | SLC17A5 | c.891A>T (p.Ala297=) c.840A>T (p.Ala280=) c.693A>T (p.Ala231=) c.660A>T (p.Ala220=) c.912A>T (p.Ala304=) c.804A>T (p.Ala268=) c.820-6444A>T (n.820-6444A>T) c.888A>T (p.Ala296=) c.573A>T (p.Ala191=) | |
6 | g.73621891T>C | CA450910898 | SLC17A5 | c.891A>G (p.Ala297=) c.840A>G (p.Ala280=) c.693A>G (p.Ala231=) c.660A>G (p.Ala220=) c.912A>G (p.Ala304=) c.804A>G (p.Ala268=) c.820-6444A>G (n.820-6444A>G) c.888A>G (p.Ala296=) c.573A>G (p.Ala191=) | |
6 | g.73621891T>G | CA450910899 | SLC17A5 | c.891A>C (p.Ala297=) c.840A>C (p.Ala280=) c.693A>C (p.Ala231=) c.660A>C (p.Ala220=) c.912A>C (p.Ala304=) c.804A>C (p.Ala268=) c.820-6444A>C (n.820-6444A>C) c.888A>C (p.Ala296=) c.573A>C (p.Ala191=) | |
6 | g.73621892G>A | CA3890399 | SLC17A5 | c.890C>T (p.Ala297Val) c.839C>T (p.Ala280Val) c.692C>T (p.Ala231Val) c.659C>T (p.Ala220Val) c.911C>T (p.Ala304Val) c.803C>T (p.Ala268Val) c.820-6445C>T (n.820-6445C>T) c.887C>T (p.Ala296Val) c.572C>T (p.Ala191Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.73621892G>C | CA364713568 | SLC17A5 | c.890C>G (p.Ala297Gly) c.839C>G (p.Ala280Gly) c.692C>G (p.Ala231Gly) c.659C>G (p.Ala220Gly) c.911C>G (p.Ala304Gly) c.803C>G (p.Ala268Gly) c.820-6445C>G (n.820-6445C>G) c.887C>G (p.Ala296Gly) c.572C>G (p.Ala191Gly) | |
6 | g.73621892G= | CA1638234796 | SLC17A5 | c.890C= (p.Ala297=) c.839C= (p.Ala280=) c.692C= (p.Ala231=) c.659C= (p.Ala220=) c.911C= (p.Ala304=) c.803C= (p.Ala268=) c.820-6445C= (n.820-6445C=) c.887C= (p.Ala296=) c.572C= (p.Ala191=) | |
6 | g.73621892G>T | CA364713571 | SLC17A5 | c.890C>A (p.Ala297Glu) c.839C>A (p.Ala280Glu) c.692C>A (p.Ala231Glu) c.659C>A (p.Ala220Glu) c.911C>A (p.Ala304Glu) c.803C>A (p.Ala268Glu) c.820-6445C>A (n.820-6445C>A) c.887C>A (p.Ala296Glu) c.572C>A (p.Ala191Glu) | |
6 | g.73621893C>A | CA364713575 | SLC17A5 | c.889G>T (p.Ala297Ser) c.838G>T (p.Ala280Ser) c.691G>T (p.Ala231Ser) c.658G>T (p.Ala220Ser) c.910G>T (p.Ala304Ser) c.802G>T (p.Ala268Ser) c.820-6446G>T (n.820-6446G>T) c.886G>T (p.Ala296Ser) c.571G>T (p.Ala191Ser) | gnomAD v4 |
6 | g.73621893C>G | CA364713576 | SLC17A5 | c.889G>C (p.Ala297Pro) c.838G>C (p.Ala280Pro) c.691G>C (p.Ala231Pro) c.658G>C (p.Ala220Pro) c.910G>C (p.Ala304Pro) c.802G>C (p.Ala268Pro) c.820-6446G>C (n.820-6446G>C) c.886G>C (p.Ala296Pro) c.571G>C (p.Ala191Pro) | |
6 | g.73621893C>T | CA364713573 | SLC17A5 | c.889G>A (p.Ala297Thr) c.838G>A (p.Ala280Thr) c.691G>A (p.Ala231Thr) c.658G>A (p.Ala220Thr) c.910G>A (p.Ala304Thr) c.802G>A (p.Ala268Thr) c.820-6446G>A (n.820-6446G>A) c.886G>A (p.Ala296Thr) c.571G>A (p.Ala191Thr) | |
6 | g.73621894A>C | CA450910901 | SLC17A5 | c.888T>G (p.Val296=) c.837T>G (p.Val279=) c.690T>G (p.Val230=) c.657T>G (p.Val219=) c.909T>G (p.Val303=) c.801T>G (p.Val267=) c.820-6447T>G (n.820-6447T>G) c.885T>G (p.Val295=) c.570T>G (p.Val190=) | |
6 | g.73621894A>G | CA450910902 | SLC17A5 | c.888T>C (p.Val296=) c.837T>C (p.Val279=) c.690T>C (p.Val230=) c.657T>C (p.Val219=) c.909T>C (p.Val303=) c.801T>C (p.Val267=) c.820-6447T>C (n.820-6447T>C) c.885T>C (p.Val295=) c.570T>C (p.Val190=) | |
6 | g.73621894A>T | CA450910900 | SLC17A5 | c.888T>A (p.Val296=) c.837T>A (p.Val279=) c.690T>A (p.Val230=) c.657T>A (p.Val219=) c.909T>A (p.Val303=) c.801T>A (p.Val267=) c.820-6447T>A (n.820-6447T>A) c.885T>A (p.Val295=) c.570T>A (p.Val190=) | |
6 | g.73621895A>C | CA364713579 | SLC17A5 | c.887T>G (p.Val296Gly) c.836T>G (p.Val279Gly) c.689T>G (p.Val230Gly) c.656T>G (p.Val219Gly) c.908T>G (p.Val303Gly) c.800T>G (p.Val267Gly) c.820-6448T>G (n.820-6448T>G) c.884T>G (p.Val295Gly) c.569T>G (p.Val190Gly) | |
6 | g.73621895A>G | CA364713583 | SLC17A5 | c.887T>C (p.Val296Ala) c.836T>C (p.Val279Ala) c.689T>C (p.Val230Ala) c.656T>C (p.Val219Ala) c.908T>C (p.Val303Ala) c.800T>C (p.Val267Ala) c.820-6448T>C (n.820-6448T>C) c.884T>C (p.Val295Ala) c.569T>C (p.Val190Ala) | COSMIC |
6 | g.73621895A>T | CA364713581 | SLC17A5 | c.887T>A (p.Val296Asp) c.836T>A (p.Val279Asp) c.689T>A (p.Val230Asp) c.656T>A (p.Val219Asp) c.908T>A (p.Val303Asp) c.800T>A (p.Val267Asp) c.820-6448T>A (n.820-6448T>A) c.884T>A (p.Val295Asp) c.569T>A (p.Val190Asp) | |
6 | g.73621896C>A | CA364713585 | SLC17A5 | c.886G>T (p.Val296Phe) c.835G>T (p.Val279Phe) c.688G>T (p.Val230Phe) c.655G>T (p.Val219Phe) c.907G>T (p.Val303Phe) c.799G>T (p.Val267Phe) c.820-6449G>T (n.820-6449G>T) c.883G>T (p.Val295Phe) c.568G>T (p.Val190Phe) | |
6 | g.73621896C= | CA1638234797 | SLC17A5 | c.886G= (p.Val296=) c.835G= (p.Val279=) c.688G= (p.Val230=) c.655G= (p.Val219=) c.907G= (p.Val303=) c.799G= (p.Val267=) c.820-6449G= (n.820-6449G=) c.883G= (p.Val295=) c.568G= (p.Val190=) | |
6 | g.73621896C>G | CA364713588 | SLC17A5 | c.886G>C (p.Val296Leu) c.835G>C (p.Val279Leu) c.688G>C (p.Val230Leu) c.655G>C (p.Val219Leu) c.907G>C (p.Val303Leu) c.799G>C (p.Val267Leu) c.820-6449G>C (n.820-6449G>C) c.883G>C (p.Val295Leu) c.568G>C (p.Val190Leu) | |
6 | g.73621896C>T | CA203496 | SLC17A5 | c.886G>A (p.Val296Ile) c.835G>A (p.Val279Ile) c.688G>A (p.Val230Ile) c.655G>A (p.Val219Ile) c.907G>A (p.Val303Ile) c.799G>A (p.Val267Ile) c.820-6449G>A (n.820-6449G>A) c.883G>A (p.Val295Ile) c.568G>A (p.Val190Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73621897T>A | CA450910905 | SLC17A5 | c.885A>T (p.Val295=) c.834A>T (p.Val278=) c.687A>T (p.Val229=) c.654A>T (p.Val218=) c.906A>T (p.Val302=) c.798A>T (p.Val266=) c.820-6450A>T (n.820-6450A>T) c.882A>T (p.Val294=) c.567A>T (p.Val189=) |