Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.25812844A>C | CA363157779 | SLC17A1 | c.884T>G (p.Val295Gly) c.*135T>G (n.*135T>G) c.735+251T>G (n.735+251T>G) c.797T>G (p.Val266Gly) c.671T>G (p.Val224Gly) c.1034T>G (p.Val345Gly) c.947T>G (p.Val316Gly) c.885+251T>G (n.885+251T>G) c.950T>G (p.Val317Gly) | |
6 | g.25812844A>G | CA363157780 | SLC17A1 | c.884T>C (p.Val295Ala) c.*135T>C (n.*135T>C) c.735+251T>C (n.735+251T>C) c.797T>C (p.Val266Ala) c.671T>C (p.Val224Ala) c.1034T>C (p.Val345Ala) c.947T>C (p.Val316Ala) c.885+251T>C (n.885+251T>C) c.950T>C (p.Val317Ala) | |
6 | g.25812844A>T | CA363157782 | SLC17A1 | c.884T>A (p.Val295Asp) c.*135T>A (n.*135T>A) c.735+251T>A (n.735+251T>A) c.797T>A (p.Val266Asp) c.671T>A (p.Val224Asp) c.1034T>A (p.Val345Asp) c.947T>A (p.Val316Asp) c.885+251T>A (n.885+251T>A) c.950T>A (p.Val317Asp) | |
6 | g.25812845C>A | CA363157783 | SLC17A1 | c.883G>T (p.Val295Phe) c.*134G>T (n.*134G>T) c.735+250G>T (n.735+250G>T) c.796G>T (p.Val266Phe) c.670G>T (p.Val224Phe) c.1033G>T (p.Val345Phe) c.946G>T (p.Val316Phe) c.885+250G>T (n.885+250G>T) c.949G>T (p.Val317Phe) | |
6 | g.25812845C>G | CA363157785 | SLC17A1 | c.883G>C (p.Val295Leu) c.*134G>C (n.*134G>C) c.735+250G>C (n.735+250G>C) c.796G>C (p.Val266Leu) c.670G>C (p.Val224Leu) c.1033G>C (p.Val345Leu) c.946G>C (p.Val316Leu) c.885+250G>C (n.885+250G>C) c.949G>C (p.Val317Leu) | |
6 | g.25812845C>T | CA363157787 | SLC17A1 | c.883G>A (p.Val295Ile) c.*134G>A (n.*134G>A) c.735+250G>A (n.735+250G>A) c.796G>A (p.Val266Ile) c.670G>A (p.Val224Ile) c.1033G>A (p.Val345Ile) c.946G>A (p.Val316Ile) c.885+250G>A (n.885+250G>A) c.949G>A (p.Val317Ile) | gnomAD v4 |
6 | g.25812846A>C | CA363157790 | SLC17A1 | c.882T>G (p.His294Gln) c.*133T>G (n.*133T>G) c.735+249T>G (n.735+249T>G) c.795T>G (p.His265Gln) c.669T>G (p.His223Gln) c.1032T>G (p.His344Gln) c.945T>G (p.His315Gln) c.885+249T>G (n.885+249T>G) c.948T>G (p.His316Gln) | |
6 | g.25812846A>G | CA448980327 | SLC17A1 | c.882T>C (p.His294=) c.*133T>C (n.*133T>C) c.735+249T>C (n.735+249T>C) c.795T>C (p.His265=) c.669T>C (p.His223=) c.1032T>C (p.His344=) c.945T>C (p.His315=) c.885+249T>C (n.885+249T>C) c.948T>C (p.His316=) | |
6 | g.25812846A>T | CA363157788 | SLC17A1 | c.882T>A (p.His294Gln) c.*133T>A (n.*133T>A) c.735+249T>A (n.735+249T>A) c.795T>A (p.His265Gln) c.669T>A (p.His223Gln) c.1032T>A (p.His344Gln) c.945T>A (p.His315Gln) c.885+249T>A (n.885+249T>A) c.948T>A (p.His316Gln) | |
6 | g.25812847T>A | CA3662579 | SLC17A1 | c.881A>T (p.His294Leu) c.*132A>T (n.*132A>T) c.735+248A>T (n.735+248A>T) c.794A>T (p.His265Leu) c.668A>T (p.His223Leu) c.1031A>T (p.His344Leu) c.944A>T (p.His315Leu) c.885+248A>T (n.885+248A>T) c.947A>T (p.His316Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.25812847T>C | CA363157792 | SLC17A1 | c.881A>G (p.His294Arg) c.*132A>G (n.*132A>G) c.735+248A>G (n.735+248A>G) c.794A>G (p.His265Arg) c.668A>G (p.His223Arg) c.1031A>G (p.His344Arg) c.944A>G (p.His315Arg) c.885+248A>G (n.885+248A>G) c.947A>G (p.His316Arg) | |
6 | g.25812847T>G | CA363157794 | SLC17A1 | c.881A>C (p.His294Pro) c.*132A>C (n.*132A>C) c.735+248A>C (n.735+248A>C) c.794A>C (p.His265Pro) c.668A>C (p.His223Pro) c.1031A>C (p.His344Pro) c.944A>C (p.His315Pro) c.885+248A>C (n.885+248A>C) c.947A>C (p.His316Pro) | |
6 | g.25812847T= | CA1616765601 | SLC17A1 | c.881A= (p.His294=) c.*132A= (n.*132A=) c.735+248A= (n.735+248A=) c.794A= (p.His265=) c.668A= (p.His223=) c.1031A= (p.His344=) c.944A= (p.His315=) c.885+248A= (n.885+248A=) c.947A= (p.His316=) | |
6 | g.25812848G>A | CA363157795 | SLC17A1 | c.880C>T (p.His294Tyr) c.*131C>T (n.*131C>T) c.735+247C>T (n.735+247C>T) c.793C>T (p.His265Tyr) c.667C>T (p.His223Tyr) c.1030C>T (p.His344Tyr) c.943C>T (p.His315Tyr) c.885+247C>T (n.885+247C>T) c.946C>T (p.His316Tyr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.25812848G>C | CA363157796 | SLC17A1 | c.880C>G (p.His294Asp) c.*131C>G (n.*131C>G) c.735+247C>G (n.735+247C>G) c.793C>G (p.His265Asp) c.667C>G (p.His223Asp) c.1030C>G (p.His344Asp) c.943C>G (p.His315Asp) c.885+247C>G (n.885+247C>G) c.946C>G (p.His316Asp) | |
6 | g.25812848G= | CA1616765602 | SLC17A1 | c.880C= (p.His294=) c.*131C= (n.*131C=) c.735+247C= (n.735+247C=) c.793C= (p.His265=) c.667C= (p.His223=) c.1030C= (p.His344=) c.943C= (p.His315=) c.885+247C= (n.885+247C=) c.946C= (p.His316=) | |
6 | g.25812848G>T | CA363157797 | SLC17A1 | c.880C>A (p.His294Asn) c.*131C>A (n.*131C>A) c.735+247C>A (n.735+247C>A) c.793C>A (p.His265Asn) c.667C>A (p.His223Asn) c.1030C>A (p.His344Asn) c.943C>A (p.His315Asn) c.885+247C>A (n.885+247C>A) c.946C>A (p.His316Asn) | |
6 | g.25812849A>C | CA448980330 | SLC17A1 | c.879T>G (p.Leu293=) c.*130T>G (n.*130T>G) c.735+246T>G (n.735+246T>G) c.792T>G (p.Leu264=) c.666T>G (p.Leu222=) c.1029T>G (p.Leu343=) c.942T>G (p.Leu314=) c.885+246T>G (n.885+246T>G) c.945T>G (p.Leu315=) | |
6 | g.25812849A>G | CA448980329 | SLC17A1 | c.879T>C (p.Leu293=) c.*130T>C (n.*130T>C) c.735+246T>C (n.735+246T>C) c.792T>C (p.Leu264=) c.666T>C (p.Leu222=) c.1029T>C (p.Leu343=) c.942T>C (p.Leu314=) c.885+246T>C (n.885+246T>C) c.945T>C (p.Leu315=) | |
6 | g.25812849A>T | CA448980328 | SLC17A1 | c.879T>A (p.Leu293=) c.*130T>A (n.*130T>A) c.735+246T>A (n.735+246T>A) c.792T>A (p.Leu264=) c.666T>A (p.Leu222=) c.1029T>A (p.Leu343=) c.942T>A (p.Leu314=) c.885+246T>A (n.885+246T>A) c.945T>A (p.Leu315=) | |
6 | g.25812850A>C | CA363157799 | SLC17A1 | c.878T>G (p.Leu293Arg) c.*129T>G (n.*129T>G) c.735+245T>G (n.735+245T>G) c.791T>G (p.Leu264Arg) c.665T>G (p.Leu222Arg) c.1028T>G (p.Leu343Arg) c.941T>G (p.Leu314Arg) c.885+245T>G (n.885+245T>G) c.944T>G (p.Leu315Arg) | |
6 | g.25812850A>G | CA363157800 | SLC17A1 | c.878T>C (p.Leu293Pro) c.*129T>C (n.*129T>C) c.735+245T>C (n.735+245T>C) c.791T>C (p.Leu264Pro) c.665T>C (p.Leu222Pro) c.1028T>C (p.Leu343Pro) c.941T>C (p.Leu314Pro) c.885+245T>C (n.885+245T>C) c.944T>C (p.Leu315Pro) | |
6 | g.25812850A>T | CA363157802 | SLC17A1 | c.878T>A (p.Leu293His) c.*129T>A (n.*129T>A) c.735+245T>A (n.735+245T>A) c.791T>A (p.Leu264His) c.665T>A (p.Leu222His) c.1028T>A (p.Leu343His) c.941T>A (p.Leu314His) c.885+245T>A (n.885+245T>A) c.944T>A (p.Leu315His) | |
6 | g.25812852_25812858del | CA2677592040 | SLC17A1 | c.872_878del (p.Ser291PhefsTer5) c.*123_*129del (n.*123_*129del) c.735+239_735+245del (n.735+239_735+245del) c.785_791del (p.Ser262PhefsTer5) c.659_665del (p.Ser220PhefsTer5) c.1022_1028del (p.Ser341PhefsTer5) c.935_941del (p.Ser312PhefsTer5) c.885+239_885+245del (n.885+239_885+245del) c.938_944del (p.Ser313PhefsTer5) | gnomAD v4 |
6 | g.25812851G>A | CA363157803 | SLC17A1 | c.877C>T (p.Leu293Phe) c.*128C>T (n.*128C>T) c.735+244C>T (n.735+244C>T) c.790C>T (p.Leu264Phe) c.664C>T (p.Leu222Phe) c.1027C>T (p.Leu343Phe) c.940C>T (p.Leu314Phe) c.885+244C>T (n.885+244C>T) c.943C>T (p.Leu315Phe) | |
6 | g.25812851G>C | CA363157804 | SLC17A1 | c.877C>G (p.Leu293Val) c.*128C>G (n.*128C>G) c.735+244C>G (n.735+244C>G) c.790C>G (p.Leu264Val) c.664C>G (p.Leu222Val) c.1027C>G (p.Leu343Val) c.940C>G (p.Leu314Val) c.885+244C>G (n.885+244C>G) c.943C>G (p.Leu315Val) | |
6 | g.25812851G>T | CA363157805 | SLC17A1 | c.877C>A (p.Leu293Ile) c.*128C>A (n.*128C>A) c.735+244C>A (n.735+244C>A) c.790C>A (p.Leu264Ile) c.664C>A (p.Leu222Ile) c.1027C>A (p.Leu343Ile) c.940C>A (p.Leu314Ile) c.885+244C>A (n.885+244C>A) c.943C>A (p.Leu315Ile) | |
6 | g.25812852C>A | CA363157811 | SLC17A1 | c.876G>T (p.Met292Ile) c.*127G>T (n.*127G>T) c.735+243G>T (n.735+243G>T) c.789G>T (p.Met263Ile) c.663G>T (p.Met221Ile) c.1026G>T (p.Met342Ile) c.939G>T (p.Met313Ile) c.885+243G>T (n.885+243G>T) c.942G>T (p.Met314Ile) | |
6 | g.25812852C>G | CA363157809 | SLC17A1 | c.876G>C (p.Met292Ile) c.*127G>C (n.*127G>C) c.735+243G>C (n.735+243G>C) c.789G>C (p.Met263Ile) c.663G>C (p.Met221Ile) c.1026G>C (p.Met342Ile) c.939G>C (p.Met313Ile) c.885+243G>C (n.885+243G>C) c.942G>C (p.Met314Ile) | |
6 | g.25812852C>T | CA363157807 | SLC17A1 | c.876G>A (p.Met292Ile) c.*127G>A (n.*127G>A) c.735+243G>A (n.735+243G>A) c.789G>A (p.Met263Ile) c.663G>A (p.Met221Ile) c.1026G>A (p.Met342Ile) c.939G>A (p.Met313Ile) c.885+243G>A (n.885+243G>A) c.942G>A (p.Met314Ile) | |
6 | g.25812853A= | CA1616765603 | SLC17A1 | c.875T= (p.Met292=) c.*126T= (n.*126T=) c.735+242T= (n.735+242T=) c.788T= (p.Met263=) c.662T= (p.Met221=) c.1025T= (p.Met342=) c.938T= (p.Met313=) c.885+242T= (n.885+242T=) c.941T= (p.Met314=) | |
6 | g.25812853A>C | CA363157812 | SLC17A1 | c.875T>G (p.Met292Arg) c.*126T>G (n.*126T>G) c.735+242T>G (n.735+242T>G) c.788T>G (p.Met263Arg) c.662T>G (p.Met221Arg) c.1025T>G (p.Met342Arg) c.938T>G (p.Met313Arg) c.885+242T>G (n.885+242T>G) c.941T>G (p.Met314Arg) | |
6 | g.25812853A>G | CA363157813 | SLC17A1 | c.875T>C (p.Met292Thr) c.*126T>C (n.*126T>C) c.735+242T>C (n.735+242T>C) c.788T>C (p.Met263Thr) c.662T>C (p.Met221Thr) c.1025T>C (p.Met342Thr) c.938T>C (p.Met313Thr) c.885+242T>C (n.885+242T>C) c.941T>C (p.Met314Thr) | dbSNP |
6 | g.25812853A>T | CA363157815 | SLC17A1 | c.875T>A (p.Met292Lys) c.*126T>A (n.*126T>A) c.735+242T>A (n.735+242T>A) c.788T>A (p.Met263Lys) c.662T>A (p.Met221Lys) c.1025T>A (p.Met342Lys) c.938T>A (p.Met313Lys) c.885+242T>A (n.885+242T>A) c.941T>A (p.Met314Lys) | |
6 | g.25812854T>A | CA363157817 | SLC17A1 | c.874A>T (p.Met292Leu) c.*125A>T (n.*125A>T) c.735+241A>T (n.735+241A>T) c.787A>T (p.Met263Leu) c.661A>T (p.Met221Leu) c.1024A>T (p.Met342Leu) c.937A>T (p.Met313Leu) c.885+241A>T (n.885+241A>T) c.940A>T (p.Met314Leu) | |
6 | g.25812854T>C | CA363157818 | SLC17A1 | c.874A>G (p.Met292Val) c.*125A>G (n.*125A>G) c.735+241A>G (n.735+241A>G) c.787A>G (p.Met263Val) c.661A>G (p.Met221Val) c.1024A>G (p.Met342Val) c.937A>G (p.Met313Val) c.885+241A>G (n.885+241A>G) c.940A>G (p.Met314Val) | |
6 | g.25812854T>G | CA363157819 | SLC17A1 | c.874A>C (p.Met292Leu) c.*125A>C (n.*125A>C) c.735+241A>C (n.735+241A>C) c.787A>C (p.Met263Leu) c.661A>C (p.Met221Leu) c.1024A>C (p.Met342Leu) c.937A>C (p.Met313Leu) c.885+241A>C (n.885+241A>C) c.940A>C (p.Met314Leu) | |
6 | g.25812855G>A | CA3662580 | SLC17A1 | c.873C>T (p.Ser291=) c.*124C>T (n.*124C>T) c.735+240C>T (n.735+240C>T) c.786C>T (p.Ser262=) c.660C>T (p.Ser220=) c.1023C>T (p.Ser341=) c.936C>T (p.Ser312=) c.885+240C>T (n.885+240C>T) c.939C>T (p.Ser313=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.25812855G>C | CA448980332 | SLC17A1 | c.873C>G (p.Ser291=) c.*124C>G (n.*124C>G) c.735+240C>G (n.735+240C>G) c.786C>G (p.Ser262=) c.660C>G (p.Ser220=) c.1023C>G (p.Ser341=) c.936C>G (p.Ser312=) c.885+240C>G (n.885+240C>G) c.939C>G (p.Ser313=) | |
6 | g.25812855G= | CA1616765604 | SLC17A1 | c.873C= (p.Ser291=) c.*124C= (n.*124C=) c.735+240C= (n.735+240C=) c.786C= (p.Ser262=) c.660C= (p.Ser220=) c.1023C= (p.Ser341=) c.936C= (p.Ser312=) c.885+240C= (n.885+240C=) c.939C= (p.Ser313=) | |
6 | g.25812855G>T | CA448980331 | SLC17A1 | c.873C>A (p.Ser291=) c.*124C>A (n.*124C>A) c.735+240C>A (n.735+240C>A) c.786C>A (p.Ser262=) c.660C>A (p.Ser220=) c.1023C>A (p.Ser341=) c.936C>A (p.Ser312=) c.885+240C>A (n.885+240C>A) c.939C>A (p.Ser313=) | |
6 | g.25812856G>A | CA363157820 | SLC17A1 | c.872C>T (p.Ser291Phe) c.*123C>T (n.*123C>T) c.735+239C>T (n.735+239C>T) c.785C>T (p.Ser262Phe) c.659C>T (p.Ser220Phe) c.1022C>T (p.Ser341Phe) c.935C>T (p.Ser312Phe) c.885+239C>T (n.885+239C>T) c.938C>T (p.Ser313Phe) | |
6 | g.25812856G>C | CA363157821 | SLC17A1 | c.872C>G (p.Ser291Cys) c.*123C>G (n.*123C>G) c.735+239C>G (n.735+239C>G) c.785C>G (p.Ser262Cys) c.659C>G (p.Ser220Cys) c.1022C>G (p.Ser341Cys) c.935C>G (p.Ser312Cys) c.885+239C>G (n.885+239C>G) c.938C>G (p.Ser313Cys) | gnomAD v4 |
6 | g.25812856G>T | CA363157822 | SLC17A1 | c.872C>A (p.Ser291Tyr) c.*123C>A (n.*123C>A) c.735+239C>A (n.735+239C>A) c.785C>A (p.Ser262Tyr) c.659C>A (p.Ser220Tyr) c.1022C>A (p.Ser341Tyr) c.935C>A (p.Ser312Tyr) c.885+239C>A (n.885+239C>A) c.938C>A (p.Ser313Tyr) | gnomAD v4 |
6 | g.25812857A>C | CA363157823 | SLC17A1 | c.871T>G (p.Ser291Ala) c.*122T>G (n.*122T>G) c.735+238T>G (n.735+238T>G) c.784T>G (p.Ser262Ala) c.658T>G (p.Ser220Ala) c.1021T>G (p.Ser341Ala) c.934T>G (p.Ser312Ala) c.885+238T>G (n.885+238T>G) c.937T>G (p.Ser313Ala) | |
6 | g.25812857A>G | CA363157824 | SLC17A1 | c.871T>C (p.Ser291Pro) c.*122T>C (n.*122T>C) c.735+238T>C (n.735+238T>C) c.784T>C (p.Ser262Pro) c.658T>C (p.Ser220Pro) c.1021T>C (p.Ser341Pro) c.934T>C (p.Ser312Pro) c.885+238T>C (n.885+238T>C) c.937T>C (p.Ser313Pro) | |
6 | g.25812857A>T | CA363157825 | SLC17A1 | c.871T>A (p.Ser291Thr) c.*122T>A (n.*122T>A) c.735+238T>A (n.735+238T>A) c.784T>A (p.Ser262Thr) c.658T>A (p.Ser220Thr) c.1021T>A (p.Ser341Thr) c.934T>A (p.Ser312Thr) c.885+238T>A (n.885+238T>A) c.937T>A (p.Ser313Thr) | |
6 | g.25812858G>A | CA448980333 | SLC17A1 | c.870C>T (p.Asn290=) c.*121C>T (n.*121C>T) c.735+237C>T (n.735+237C>T) c.783C>T (p.Asn261=) c.657C>T (p.Asn219=) c.1020C>T (p.Asn340=) c.933C>T (p.Asn311=) c.885+237C>T (n.885+237C>T) c.936C>T (p.Asn312=) | |
6 | g.25812858G>C | CA363157827 | SLC17A1 | c.870C>G (p.Asn290Lys) c.*121C>G (n.*121C>G) c.735+237C>G (n.735+237C>G) c.783C>G (p.Asn261Lys) c.657C>G (p.Asn219Lys) c.1020C>G (p.Asn340Lys) c.933C>G (p.Asn311Lys) c.885+237C>G (n.885+237C>G) c.936C>G (p.Asn312Lys) | |
6 | g.25812858G>T | CA363157826 | SLC17A1 | c.870C>A (p.Asn290Lys) c.*121C>A (n.*121C>A) c.735+237C>A (n.735+237C>A) c.783C>A (p.Asn261Lys) c.657C>A (p.Asn219Lys) c.1020C>A (p.Asn340Lys) c.933C>A (p.Asn311Lys) c.885+237C>A (n.885+237C>A) c.936C>A (p.Asn312Lys) | |
6 | g.25812859T>A | CA363157828 | SLC17A1 | c.869A>T (p.Asn290Ile) c.*120A>T (n.*120A>T) c.735+236A>T (n.735+236A>T) c.782A>T (p.Asn261Ile) c.656A>T (p.Asn219Ile) c.1019A>T (p.Asn340Ile) c.932A>T (p.Asn311Ile) c.885+236A>T (n.885+236A>T) c.935A>T (p.Asn312Ile) | |
6 | g.25812859T>C | CA363157829 | SLC17A1 | c.869A>G (p.Asn290Ser) c.*120A>G (n.*120A>G) c.735+236A>G (n.735+236A>G) c.782A>G (p.Asn261Ser) c.656A>G (p.Asn219Ser) c.1019A>G (p.Asn340Ser) c.932A>G (p.Asn311Ser) c.885+236A>G (n.885+236A>G) c.935A>G (p.Asn312Ser) | gnomAD v4 |
6 | g.25812859T>G | CA363157830 | SLC17A1 | c.869A>C (p.Asn290Thr) c.*120A>C (n.*120A>C) c.735+236A>C (n.735+236A>C) c.782A>C (p.Asn261Thr) c.656A>C (p.Asn219Thr) c.1019A>C (p.Asn340Thr) c.932A>C (p.Asn311Thr) c.885+236A>C (n.885+236A>C) c.935A>C (p.Asn312Thr) | |
6 | g.25812860T>A | CA363157832 | SLC17A1 | c.868A>T (p.Asn290Tyr) c.*119A>T (n.*119A>T) c.735+235A>T (n.735+235A>T) c.781A>T (p.Asn261Tyr) c.655A>T (p.Asn219Tyr) c.1018A>T (p.Asn340Tyr) c.931A>T (p.Asn311Tyr) c.885+235A>T (n.885+235A>T) c.934A>T (p.Asn312Tyr) | |
6 | g.25812860T>C | CA363157833 | SLC17A1 | c.868A>G (p.Asn290Asp) c.*119A>G (n.*119A>G) c.735+235A>G (n.735+235A>G) c.781A>G (p.Asn261Asp) c.655A>G (p.Asn219Asp) c.1018A>G (p.Asn340Asp) c.931A>G (p.Asn311Asp) c.885+235A>G (n.885+235A>G) c.934A>G (p.Asn312Asp) | |
6 | g.25812860T>G | CA363157834 | SLC17A1 | c.868A>C (p.Asn290His) c.*119A>C (n.*119A>C) c.735+235A>C (n.735+235A>C) c.781A>C (p.Asn261His) c.655A>C (p.Asn219His) c.1018A>C (p.Asn340His) c.931A>C (p.Asn311His) c.885+235A>C (n.885+235A>C) c.934A>C (p.Asn312His) | |
6 | g.25812861G>A | CA448980334 | SLC17A1 | c.867C>T (p.Ile289=) c.*118C>T (n.*118C>T) c.735+234C>T (n.735+234C>T) c.780C>T (p.Ile260=) c.654C>T (p.Ile218=) c.1017C>T (p.Ile339=) c.930C>T (p.Ile310=) c.885+234C>T (n.885+234C>T) c.933C>T (p.Ile311=) | |
6 | g.25812861G>C | CA363157835 | SLC17A1 | c.867C>G (p.Ile289Met) c.*118C>G (n.*118C>G) c.735+234C>G (n.735+234C>G) c.780C>G (p.Ile260Met) c.654C>G (p.Ile218Met) c.1017C>G (p.Ile339Met) c.930C>G (p.Ile310Met) c.885+234C>G (n.885+234C>G) c.933C>G (p.Ile311Met) | gnomAD v4 |
6 | g.25812861G>T | CA448980335 | SLC17A1 | c.867C>A (p.Ile289=) c.*118C>A (n.*118C>A) c.735+234C>A (n.735+234C>A) c.780C>A (p.Ile260=) c.654C>A (p.Ile218=) c.1017C>A (p.Ile339=) c.930C>A (p.Ile310=) c.885+234C>A (n.885+234C>A) c.933C>A (p.Ile311=) | gnomAD v4 |
6 | g.25812862A>C | CA363157836 | SLC17A1 | c.866T>G (p.Ile289Ser) c.*117T>G (n.*117T>G) c.735+233T>G (n.735+233T>G) c.779T>G (p.Ile260Ser) c.653T>G (p.Ile218Ser) c.1016T>G (p.Ile339Ser) c.929T>G (p.Ile310Ser) c.885+233T>G (n.885+233T>G) c.932T>G (p.Ile311Ser) | |
6 | g.25812862A>G | CA363157838 | SLC17A1 | c.866T>C (p.Ile289Thr) c.*117T>C (n.*117T>C) c.735+233T>C (n.735+233T>C) c.779T>C (p.Ile260Thr) c.653T>C (p.Ile218Thr) c.1016T>C (p.Ile339Thr) c.929T>C (p.Ile310Thr) c.885+233T>C (n.885+233T>C) c.932T>C (p.Ile311Thr) | dbSNP |
6 | g.25812862A>T | CA363157839 | SLC17A1 | c.866T>A (p.Ile289Asn) c.*117T>A (n.*117T>A) c.735+233T>A (n.735+233T>A) c.779T>A (p.Ile260Asn) c.653T>A (p.Ile218Asn) c.1016T>A (p.Ile339Asn) c.929T>A (p.Ile310Asn) c.885+233T>A (n.885+233T>A) c.932T>A (p.Ile311Asn) | |
6 | g.25812863T>A | CA363157840 | SLC17A1 | c.865A>T (p.Ile289Phe) c.*116A>T (n.*116A>T) c.735+232A>T (n.735+232A>T) c.778A>T (p.Ile260Phe) c.652A>T (p.Ile218Phe) c.1015A>T (p.Ile339Phe) c.928A>T (p.Ile310Phe) c.885+232A>T (n.885+232A>T) c.931A>T (p.Ile311Phe) | |
6 | g.25812863T>C | CA363157841 | SLC17A1 | c.865A>G (p.Ile289Val) c.*116A>G (n.*116A>G) c.735+232A>G (n.735+232A>G) c.778A>G (p.Ile260Val) c.652A>G (p.Ile218Val) c.1015A>G (p.Ile339Val) c.928A>G (p.Ile310Val) c.885+232A>G (n.885+232A>G) c.931A>G (p.Ile311Val) | |
6 | g.25812863T>G | CA363157843 | SLC17A1 | c.865A>C (p.Ile289Leu) c.*116A>C (n.*116A>C) c.735+232A>C (n.735+232A>C) c.778A>C (p.Ile260Leu) c.652A>C (p.Ile218Leu) c.1015A>C (p.Ile339Leu) c.928A>C (p.Ile310Leu) c.885+232A>C (n.885+232A>C) c.931A>C (p.Ile311Leu) | |
6 | g.25812864A>C | CA363157846 | SLC17A1 | c.864T>G (p.Phe288Leu) c.*115T>G (n.*115T>G) c.735+231T>G (n.735+231T>G) c.777T>G (p.Phe259Leu) c.651T>G (p.Phe217Leu) c.1014T>G (p.Phe338Leu) c.927T>G (p.Phe309Leu) c.885+231T>G (n.885+231T>G) c.930T>G (p.Phe310Leu) | |
6 | g.25812864A>G | CA448980336 | SLC17A1 | c.864T>C (p.Phe288=) c.*115T>C (n.*115T>C) c.735+231T>C (n.735+231T>C) c.777T>C (p.Phe259=) c.651T>C (p.Phe217=) c.1014T>C (p.Phe338=) c.927T>C (p.Phe309=) c.885+231T>C (n.885+231T>C) c.930T>C (p.Phe310=) | |
6 | g.25812864A>T | CA363157845 | SLC17A1 | c.864T>A (p.Phe288Leu) c.*115T>A (n.*115T>A) c.735+231T>A (n.735+231T>A) c.777T>A (p.Phe259Leu) c.651T>A (p.Phe217Leu) c.1014T>A (p.Phe338Leu) c.927T>A (p.Phe309Leu) c.885+231T>A (n.885+231T>A) c.930T>A (p.Phe310Leu) | |
6 | g.25812865A= | CA1616765605 | SLC17A1 | c.863T= (p.Phe288=) c.*114T= (n.*114T=) c.735+230T= (n.735+230T=) c.776T= (p.Phe259=) c.650T= (p.Phe217=) c.1013T= (p.Phe338=) c.926T= (p.Phe309=) c.885+230T= (n.885+230T=) c.929T= (p.Phe310=) | |
6 | g.25812865A>C | CA3662581 | SLC17A1 | c.863T>G (p.Phe288Cys) c.*114T>G (n.*114T>G) c.735+230T>G (n.735+230T>G) c.776T>G (p.Phe259Cys) c.650T>G (p.Phe217Cys) c.1013T>G (p.Phe338Cys) c.926T>G (p.Phe309Cys) c.885+230T>G (n.885+230T>G) c.929T>G (p.Phe310Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.25812865A>G | CA363157850 | SLC17A1 | c.863T>C (p.Phe288Ser) c.*114T>C (n.*114T>C) c.735+230T>C (n.735+230T>C) c.776T>C (p.Phe259Ser) c.650T>C (p.Phe217Ser) c.1013T>C (p.Phe338Ser) c.926T>C (p.Phe309Ser) c.885+230T>C (n.885+230T>C) c.929T>C (p.Phe310Ser) | |
6 | g.25812865A>T | CA363157849 | SLC17A1 | c.863T>A (p.Phe288Tyr) c.*114T>A (n.*114T>A) c.735+230T>A (n.735+230T>A) c.776T>A (p.Phe259Tyr) c.650T>A (p.Phe217Tyr) c.1013T>A (p.Phe338Tyr) c.926T>A (p.Phe309Tyr) c.885+230T>A (n.885+230T>A) c.929T>A (p.Phe310Tyr) | |
6 | g.25812866A= | CA1616765606 | SLC17A1 | c.862T= (p.Phe288=) c.*113T= (n.*113T=) c.735+229T= (n.735+229T=) c.775T= (p.Phe259=) c.649T= (p.Phe217=) c.1012T= (p.Phe338=) c.925T= (p.Phe309=) c.885+229T= (n.885+229T=) c.928T= (p.Phe310=) | |
6 | g.25812866A>C | CA363157853 | SLC17A1 | c.862T>G (p.Phe288Val) c.*113T>G (n.*113T>G) c.735+229T>G (n.735+229T>G) c.775T>G (p.Phe259Val) c.649T>G (p.Phe217Val) c.1012T>G (p.Phe338Val) c.925T>G (p.Phe309Val) c.885+229T>G (n.885+229T>G) c.928T>G (p.Phe310Val) | |
6 | g.25812866A>G | CA363157855 | SLC17A1 | c.862T>C (p.Phe288Leu) c.*113T>C (n.*113T>C) c.735+229T>C (n.735+229T>C) c.775T>C (p.Phe259Leu) c.649T>C (p.Phe217Leu) c.1012T>C (p.Phe338Leu) c.925T>C (p.Phe309Leu) c.885+229T>C (n.885+229T>C) c.928T>C (p.Phe310Leu) | |
6 | g.25812866A>T | CA3662582 | SLC17A1 | c.862T>A (p.Phe288Ile) c.*113T>A (n.*113T>A) c.735+229T>A (n.735+229T>A) c.775T>A (p.Phe259Ile) c.649T>A (p.Phe217Ile) c.1012T>A (p.Phe338Ile) c.925T>A (p.Phe309Ile) c.885+229T>A (n.885+229T>A) c.928T>A (p.Phe310Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.25812867C>A | CA363157857 | SLC17A1 | c.861G>T (p.Met287Ile) c.*112G>T (n.*112G>T) c.735+228G>T (n.735+228G>T) c.774G>T (p.Met258Ile) c.648G>T (p.Met216Ile) c.1011G>T (p.Met337Ile) c.924G>T (p.Met308Ile) c.885+228G>T (n.885+228G>T) c.927G>T (p.Met309Ile) | |
6 | g.25812867C>G | CA363157860 | SLC17A1 | c.861G>C (p.Met287Ile) c.*112G>C (n.*112G>C) c.735+228G>C (n.735+228G>C) c.774G>C (p.Met258Ile) c.648G>C (p.Met216Ile) c.1011G>C (p.Met337Ile) c.924G>C (p.Met308Ile) c.885+228G>C (n.885+228G>C) c.927G>C (p.Met309Ile) | |
6 | g.25812867C>T | CA363157859 | SLC17A1 | c.861G>A (p.Met287Ile) c.*112G>A (n.*112G>A) c.735+228G>A (n.735+228G>A) c.774G>A (p.Met258Ile) c.648G>A (p.Met216Ile) c.1011G>A (p.Met337Ile) c.924G>A (p.Met308Ile) c.885+228G>A (n.885+228G>A) c.927G>A (p.Met309Ile) | |
6 | g.25812868A= | CA1616765607 | SLC17A1 | c.860T= (p.Met287=) c.*111T= (n.*111T=) c.735+227T= (n.735+227T=) c.773T= (p.Met258=) c.647T= (p.Met216=) c.1010T= (p.Met337=) c.923T= (p.Met308=) c.885+227T= (n.885+227T=) c.926T= (p.Met309=) | |
6 | g.25812868A>C | CA363157861 | SLC17A1 | c.860T>G (p.Met287Arg) c.*111T>G (n.*111T>G) c.735+227T>G (n.735+227T>G) c.773T>G (p.Met258Arg) c.647T>G (p.Met216Arg) c.1010T>G (p.Met337Arg) c.923T>G (p.Met308Arg) c.885+227T>G (n.885+227T>G) c.926T>G (p.Met309Arg) | |
6 | g.25812868A>G | CA363157863 | SLC17A1 | c.860T>C (p.Met287Thr) c.*111T>C (n.*111T>C) c.735+227T>C (n.735+227T>C) c.773T>C (p.Met258Thr) c.647T>C (p.Met216Thr) c.1010T>C (p.Met337Thr) c.923T>C (p.Met308Thr) c.885+227T>C (n.885+227T>C) c.926T>C (p.Met309Thr) | |
6 | g.25812868A>T | CA3662583 | SLC17A1 | c.860T>A (p.Met287Lys) c.*111T>A (n.*111T>A) c.735+227T>A (n.735+227T>A) c.773T>A (p.Met258Lys) c.647T>A (p.Met216Lys) c.1010T>A (p.Met337Lys) c.923T>A (p.Met308Lys) c.885+227T>A (n.885+227T>A) c.926T>A (p.Met309Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.25812869T>A | CA363157866 | SLC17A1 | c.859A>T (p.Met287Leu) c.*110A>T (n.*110A>T) c.735+226A>T (n.735+226A>T) c.772A>T (p.Met258Leu) c.646A>T (p.Met216Leu) c.1009A>T (p.Met337Leu) c.922A>T (p.Met308Leu) c.885+226A>T (n.885+226A>T) c.925A>T (p.Met309Leu) | |
6 | g.25812869T>C | CA363157867 | SLC17A1 | c.859A>G (p.Met287Val) c.*110A>G (n.*110A>G) c.735+226A>G (n.735+226A>G) c.772A>G (p.Met258Val) c.646A>G (p.Met216Val) c.1009A>G (p.Met337Val) c.922A>G (p.Met308Val) c.885+226A>G (n.885+226A>G) c.925A>G (p.Met309Val) | |
6 | g.25812869T>G | CA363157869 | SLC17A1 | c.859A>C (p.Met287Leu) c.*110A>C (n.*110A>C) c.735+226A>C (n.735+226A>C) c.772A>C (p.Met258Leu) c.646A>C (p.Met216Leu) c.1009A>C (p.Met337Leu) c.922A>C (p.Met308Leu) c.885+226A>C (n.885+226A>C) c.925A>C (p.Met309Leu) | |
6 | g.25812870T>A | CA448980337 | SLC17A1 | c.858A>T (p.Pro286=) c.*109A>T (n.*109A>T) c.735+225A>T (n.735+225A>T) c.771A>T (p.Pro257=) c.645A>T (p.Pro215=) c.1008A>T (p.Pro336=) c.921A>T (p.Pro307=) c.885+225A>T (n.885+225A>T) c.924A>T (p.Pro308=) | |
6 | g.25812870T>C | CA3662584 | SLC17A1 | c.858A>G (p.Pro286=) c.*109A>G (n.*109A>G) c.735+225A>G (n.735+225A>G) c.771A>G (p.Pro257=) c.645A>G (p.Pro215=) c.1008A>G (p.Pro336=) c.921A>G (p.Pro307=) c.885+225A>G (n.885+225A>G) c.924A>G (p.Pro308=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.25812870T>G | CA448980338 | SLC17A1 | c.858A>C (p.Pro286=) c.*109A>C (n.*109A>C) c.735+225A>C (n.735+225A>C) c.771A>C (p.Pro257=) c.645A>C (p.Pro215=) c.1008A>C (p.Pro336=) c.921A>C (p.Pro307=) c.885+225A>C (n.885+225A>C) c.924A>C (p.Pro308=) | |
6 | g.25812870T= | CA1616765608 | SLC17A1 | c.858A= (p.Pro286=) c.*109A= (n.*109A=) c.735+225A= (n.735+225A=) c.771A= (p.Pro257=) c.645A= (p.Pro215=) c.1008A= (p.Pro336=) c.921A= (p.Pro307=) c.885+225A= (n.885+225A=) c.924A= (p.Pro308=) | |
6 | g.25812871G>A | CA363157871 | SLC17A1 | c.857C>T (p.Pro286Leu) c.*108C>T (n.*108C>T) c.735+224C>T (n.735+224C>T) c.770C>T (p.Pro257Leu) c.644C>T (p.Pro215Leu) c.1007C>T (p.Pro336Leu) c.920C>T (p.Pro307Leu) c.885+224C>T (n.885+224C>T) c.923C>T (p.Pro308Leu) | |
6 | g.25812871G>C | CA363157873 | SLC17A1 | c.857C>G (p.Pro286Arg) c.*108C>G (n.*108C>G) c.735+224C>G (n.735+224C>G) c.770C>G (p.Pro257Arg) c.644C>G (p.Pro215Arg) c.1007C>G (p.Pro336Arg) c.920C>G (p.Pro307Arg) c.885+224C>G (n.885+224C>G) c.923C>G (p.Pro308Arg) | |
6 | g.25812871G>T | CA363157875 | SLC17A1 | c.857C>A (p.Pro286Gln) c.*108C>A (n.*108C>A) c.735+224C>A (n.735+224C>A) c.770C>A (p.Pro257Gln) c.644C>A (p.Pro215Gln) c.1007C>A (p.Pro336Gln) c.920C>A (p.Pro307Gln) c.885+224C>A (n.885+224C>A) c.923C>A (p.Pro308Gln) | |
6 | g.25812872G>A | CA363157877 | SLC17A1 | c.856C>T (p.Pro286Ser) c.*107C>T (n.*107C>T) c.735+223C>T (n.735+223C>T) c.769C>T (p.Pro257Ser) c.643C>T (p.Pro215Ser) c.1006C>T (p.Pro336Ser) c.919C>T (p.Pro307Ser) c.885+223C>T (n.885+223C>T) c.922C>T (p.Pro308Ser) | dbSNP gnomAD v4 |
6 | g.25812872G>C | CA363157879 | SLC17A1 | c.856C>G (p.Pro286Ala) c.*107C>G (n.*107C>G) c.735+223C>G (n.735+223C>G) c.769C>G (p.Pro257Ala) c.643C>G (p.Pro215Ala) c.1006C>G (p.Pro336Ala) c.919C>G (p.Pro307Ala) c.885+223C>G (n.885+223C>G) c.922C>G (p.Pro308Ala) | |
6 | g.25812872G= | CA1616765609 | SLC17A1 | c.856C= (p.Pro286=) c.*107C= (n.*107C=) c.735+223C= (n.735+223C=) c.769C= (p.Pro257=) c.643C= (p.Pro215=) c.1006C= (p.Pro336=) c.919C= (p.Pro307=) c.885+223C= (n.885+223C=) c.922C= (p.Pro308=) | |
6 | g.25812872G>T | CA363157880 | SLC17A1 | c.856C>A (p.Pro286Thr) c.*107C>A (n.*107C>A) c.735+223C>A (n.735+223C>A) c.769C>A (p.Pro257Thr) c.643C>A (p.Pro215Thr) c.1006C>A (p.Pro336Thr) c.919C>A (p.Pro307Thr) c.885+223C>A (n.885+223C>A) c.922C>A (p.Pro308Thr) | |
6 | g.25812873A= | CA1616765610 | SLC17A1 | c.855T= (p.Thr285=) c.*106T= (n.*106T=) c.735+222T= (n.735+222T=) c.768T= (p.Thr256=) c.642T= (p.Thr214=) c.1005T= (p.Thr335=) c.918T= (p.Thr306=) c.885+222T= (n.885+222T=) c.921T= (p.Thr307=) | |
6 | g.25812873A>C | CA136229852 | SLC17A1 | c.855T>G (p.Thr285=) c.*106T>G (n.*106T>G) c.735+222T>G (n.735+222T>G) c.768T>G (p.Thr256=) c.642T>G (p.Thr214=) c.1005T>G (p.Thr335=) c.918T>G (p.Thr306=) c.885+222T>G (n.885+222T>G) c.921T>G (p.Thr307=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.25812873A>G | CA448980339 | SLC17A1 | c.855T>C (p.Thr285=) c.*106T>C (n.*106T>C) c.735+222T>C (n.735+222T>C) c.768T>C (p.Thr256=) c.642T>C (p.Thr214=) c.1005T>C (p.Thr335=) c.918T>C (p.Thr306=) c.885+222T>C (n.885+222T>C) c.921T>C (p.Thr307=) | gnomAD v4 |
6 | g.25812873A>T | CA448980340 | SLC17A1 | c.855T>A (p.Thr285=) c.*106T>A (n.*106T>A) c.735+222T>A (n.735+222T>A) c.768T>A (p.Thr256=) c.642T>A (p.Thr214=) c.1005T>A (p.Thr335=) c.918T>A (p.Thr306=) c.885+222T>A (n.885+222T>A) c.921T>A (p.Thr307=) | dbSNP |
6 | g.25812874G>A | CA363157883 | SLC17A1 | c.854C>T (p.Thr285Ile) c.*105C>T (n.*105C>T) c.735+221C>T (n.735+221C>T) c.767C>T (p.Thr256Ile) c.641C>T (p.Thr214Ile) c.1004C>T (p.Thr335Ile) c.917C>T (p.Thr306Ile) c.885+221C>T (n.885+221C>T) c.920C>T (p.Thr307Ile) | |
6 | g.25812874G>C | CA363157885 | SLC17A1 | c.854C>G (p.Thr285Ser) c.*105C>G (n.*105C>G) c.735+221C>G (n.735+221C>G) c.767C>G (p.Thr256Ser) c.641C>G (p.Thr214Ser) c.1004C>G (p.Thr335Ser) c.917C>G (p.Thr306Ser) c.885+221C>G (n.885+221C>G) c.920C>G (p.Thr307Ser) | |
6 | g.25812874G>T | CA363157886 | SLC17A1 | c.854C>A (p.Thr285Asn) c.*105C>A (n.*105C>A) c.735+221C>A (n.735+221C>A) c.767C>A (p.Thr256Asn) c.641C>A (p.Thr214Asn) c.1004C>A (p.Thr335Asn) c.917C>A (p.Thr306Asn) c.885+221C>A (n.885+221C>A) c.920C>A (p.Thr307Asn) | |
6 | g.25812875T>A | CA363157887 | SLC17A1 | c.853A>T (p.Thr285Ser) c.*104A>T (n.*104A>T) c.735+220A>T (n.735+220A>T) c.766A>T (p.Thr256Ser) c.640A>T (p.Thr214Ser) c.1003A>T (p.Thr335Ser) c.916A>T (p.Thr306Ser) c.885+220A>T (n.885+220A>T) c.919A>T (p.Thr307Ser) | |
6 | g.25812875T>C | CA3662585 | SLC17A1 | c.853A>G (p.Thr285Ala) c.*104A>G (n.*104A>G) c.735+220A>G (n.735+220A>G) c.766A>G (p.Thr256Ala) c.640A>G (p.Thr214Ala) c.1003A>G (p.Thr335Ala) c.916A>G (p.Thr306Ala) c.885+220A>G (n.885+220A>G) c.919A>G (p.Thr307Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
6 | g.25812875T>G | CA363157889 | SLC17A1 | c.853A>C (p.Thr285Pro) c.*104A>C (n.*104A>C) c.735+220A>C (n.735+220A>C) c.766A>C (p.Thr256Pro) c.640A>C (p.Thr214Pro) c.1003A>C (p.Thr335Pro) c.916A>C (p.Thr306Pro) c.885+220A>C (n.885+220A>C) c.919A>C (p.Thr307Pro) | |
6 | g.25812875T= | CA1616765611 | SLC17A1 | c.853A= (p.Thr285=) c.*104A= (n.*104A=) c.735+220A= (n.735+220A=) c.766A= (p.Thr256=) c.640A= (p.Thr214=) c.1003A= (p.Thr335=) c.916A= (p.Thr306=) c.885+220A= (n.885+220A=) c.919A= (p.Thr307=) | |
6 | g.25812876G>A | CA448980341 | SLC17A1 | c.852C>T (p.Tyr284=) c.*103C>T (n.*103C>T) c.735+219C>T (n.735+219C>T) c.765C>T (p.Tyr255=) c.639C>T (p.Tyr213=) c.1002C>T (p.Tyr334=) c.915C>T (p.Tyr305=) c.885+219C>T (n.885+219C>T) c.918C>T (p.Tyr306=) | |
6 | g.25812876G>C | CA363157891 | SLC17A1 | c.852C>G (p.Tyr284Ter) c.*103C>G (n.*103C>G) c.735+219C>G (n.735+219C>G) c.765C>G (p.Tyr255Ter) c.639C>G (p.Tyr213Ter) c.1002C>G (p.Tyr334Ter) c.915C>G (p.Tyr305Ter) c.885+219C>G (n.885+219C>G) c.918C>G (p.Tyr306Ter) | |
6 | g.25812876G>T | CA363157892 | SLC17A1 | c.852C>A (p.Tyr284Ter) c.*103C>A (n.*103C>A) c.735+219C>A (n.735+219C>A) c.765C>A (p.Tyr255Ter) c.639C>A (p.Tyr213Ter) c.1002C>A (p.Tyr334Ter) c.915C>A (p.Tyr305Ter) c.885+219C>A (n.885+219C>A) c.918C>A (p.Tyr306Ter) | |
6 | g.25812877T>A | CA363157894 | SLC17A1 | c.851A>T (p.Tyr284Phe) c.*102A>T (n.*102A>T) c.735+218A>T (n.735+218A>T) c.764A>T (p.Tyr255Phe) c.638A>T (p.Tyr213Phe) c.1001A>T (p.Tyr334Phe) c.914A>T (p.Tyr305Phe) c.885+218A>T (n.885+218A>T) c.917A>T (p.Tyr306Phe) | |
6 | g.25812877T>C | CA363157896 | SLC17A1 | c.851A>G (p.Tyr284Cys) c.*102A>G (n.*102A>G) c.735+218A>G (n.735+218A>G) c.764A>G (p.Tyr255Cys) c.638A>G (p.Tyr213Cys) c.1001A>G (p.Tyr334Cys) c.914A>G (p.Tyr305Cys) c.885+218A>G (n.885+218A>G) c.917A>G (p.Tyr306Cys) | gnomAD v4 |
6 | g.25812877T>G | CA363157898 | SLC17A1 | c.851A>C (p.Tyr284Ser) c.*102A>C (n.*102A>C) c.735+218A>C (n.735+218A>C) c.764A>C (p.Tyr255Ser) c.638A>C (p.Tyr213Ser) c.1001A>C (p.Tyr334Ser) c.914A>C (p.Tyr305Ser) c.885+218A>C (n.885+218A>C) c.917A>C (p.Tyr306Ser) | |
6 | g.25812878A= | CA1616765612 | SLC17A1 | c.850T= (p.Tyr284=) c.*101T= (n.*101T=) c.735+217T= (n.735+217T=) c.763T= (p.Tyr255=) c.637T= (p.Tyr213=) c.1000T= (p.Tyr334=) c.913T= (p.Tyr305=) c.885+217T= (n.885+217T=) c.916T= (p.Tyr306=) | |
6 | g.25812878A>C | CA363157899 | SLC17A1 | c.850T>G (p.Tyr284Asp) c.*101T>G (n.*101T>G) c.735+217T>G (n.735+217T>G) c.763T>G (p.Tyr255Asp) c.637T>G (p.Tyr213Asp) c.1000T>G (p.Tyr334Asp) c.913T>G (p.Tyr305Asp) c.885+217T>G (n.885+217T>G) c.916T>G (p.Tyr306Asp) | |
6 | g.25812878A>G | CA3662586 | SLC17A1 | c.850T>C (p.Tyr284His) c.*101T>C (n.*101T>C) c.735+217T>C (n.735+217T>C) c.763T>C (p.Tyr255His) c.637T>C (p.Tyr213His) c.1000T>C (p.Tyr334His) c.913T>C (p.Tyr305His) c.885+217T>C (n.885+217T>C) c.916T>C (p.Tyr306His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.25812878A>T | CA363157901 | SLC17A1 | c.850T>A (p.Tyr284Asn) c.*101T>A (n.*101T>A) c.735+217T>A (n.735+217T>A) c.763T>A (p.Tyr255Asn) c.637T>A (p.Tyr213Asn) c.1000T>A (p.Tyr334Asn) c.913T>A (p.Tyr305Asn) c.885+217T>A (n.885+217T>A) c.916T>A (p.Tyr306Asn) | |
6 | g.25812879T>A | CA448980344 | SLC17A1 | c.849A>T (p.Leu283=) c.*100A>T (n.*100A>T) c.735+216A>T (n.735+216A>T) c.762A>T (p.Leu254=) c.636A>T (p.Leu212=) c.999A>T (p.Leu333=) c.912A>T (p.Leu304=) c.885+216A>T (n.885+216A>T) c.915A>T (p.Leu305=) | gnomAD v4 |
6 | g.25812879T>C | CA448980343 | SLC17A1 | c.849A>G (p.Leu283=) c.*100A>G (n.*100A>G) c.735+216A>G (n.735+216A>G) c.762A>G (p.Leu254=) c.636A>G (p.Leu212=) c.999A>G (p.Leu333=) c.912A>G (p.Leu304=) c.885+216A>G (n.885+216A>G) c.915A>G (p.Leu305=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.25812879T>G | CA448980342 | SLC17A1 | c.849A>C (p.Leu283=) c.*100A>C (n.*100A>C) c.735+216A>C (n.735+216A>C) c.762A>C (p.Leu254=) c.636A>C (p.Leu212=) c.999A>C (p.Leu333=) c.912A>C (p.Leu304=) c.885+216A>C (n.885+216A>C) c.915A>C (p.Leu305=) | |
6 | g.25812879T= | CA1616765613 | SLC17A1 | c.849A= (p.Leu283=) c.*100A= (n.*100A=) c.735+216A= (n.735+216A=) c.762A= (p.Leu254=) c.636A= (p.Leu212=) c.999A= (p.Leu333=) c.912A= (p.Leu304=) c.885+216A= (n.885+216A=) c.915A= (p.Leu305=) | |
6 | g.25812880A= | CA1616765614 | SLC17A1 | c.848T= (p.Leu283=) c.*99T= (n.*99T=) c.735+215T= (n.735+215T=) c.761T= (p.Leu254=) c.635T= (p.Leu212=) c.998T= (p.Leu333=) c.911T= (p.Leu304=) c.885+215T= (n.885+215T=) c.914T= (p.Leu305=) | |
6 | g.25812880A>C | CA3662587 | SLC17A1 | c.848T>G (p.Leu283Arg) c.*99T>G (n.*99T>G) c.735+215T>G (n.735+215T>G) c.761T>G (p.Leu254Arg) c.635T>G (p.Leu212Arg) c.998T>G (p.Leu333Arg) c.911T>G (p.Leu304Arg) c.885+215T>G (n.885+215T>G) c.914T>G (p.Leu305Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.25812880A>G | CA363157903 | SLC17A1 | c.848T>C (p.Leu283Pro) c.*99T>C (n.*99T>C) c.735+215T>C (n.735+215T>C) c.761T>C (p.Leu254Pro) c.635T>C (p.Leu212Pro) c.998T>C (p.Leu333Pro) c.911T>C (p.Leu304Pro) c.885+215T>C (n.885+215T>C) c.914T>C (p.Leu305Pro) | |
6 | g.25812880A>T | CA363157905 | SLC17A1 | c.848T>A (p.Leu283Gln) c.*99T>A (n.*99T>A) c.735+215T>A (n.735+215T>A) c.761T>A (p.Leu254Gln) c.635T>A (p.Leu212Gln) c.998T>A (p.Leu333Gln) c.911T>A (p.Leu304Gln) c.885+215T>A (n.885+215T>A) c.914T>A (p.Leu305Gln) | |
6 | g.25812881_25812942del | CA645552929 | SLC17A1 | c.787_848del (p.Pro263IlefsTer13) c.*38_*99del (n.*38_*99del) c.735+154_735+215del (n.735+154_735+215del) c.700_761del (p.Pro234IlefsTer13) c.574_635del (p.Pro192IlefsTer13) c.937_998del (p.Pro313IlefsTer13) c.850_911del (p.Pro284IlefsTer13) c.885+154_885+215del (n.885+154_885+215del) c.853_914del (p.Pro285IlefsTer13) | COSMIC |
6 | g.25812881G>A | CA448980345 | SLC17A1 | c.847C>T (p.Leu283=) c.*98C>T (n.*98C>T) c.735+214C>T (n.735+214C>T) c.760C>T (p.Leu254=) c.634C>T (p.Leu212=) c.997C>T (p.Leu333=) c.910C>T (p.Leu304=) c.885+214C>T (n.885+214C>T) c.913C>T (p.Leu305=) | |
6 | g.25812881G>C | CA363157907 | SLC17A1 | c.847C>G (p.Leu283Val) c.*98C>G (n.*98C>G) c.735+214C>G (n.735+214C>G) c.760C>G (p.Leu254Val) c.634C>G (p.Leu212Val) c.997C>G (p.Leu333Val) c.910C>G (p.Leu304Val) c.885+214C>G (n.885+214C>G) c.913C>G (p.Leu305Val) | |
6 | g.25812881G>T | CA363157909 | SLC17A1 | c.847C>A (p.Leu283Ile) c.*98C>A (n.*98C>A) c.735+214C>A (n.735+214C>A) c.760C>A (p.Leu254Ile) c.634C>A (p.Leu212Ile) c.997C>A (p.Leu333Ile) c.910C>A (p.Leu304Ile) c.885+214C>A (n.885+214C>A) c.913C>A (p.Leu305Ile) | |
6 | g.25812882T>A | CA448980346 | SLC17A1 | c.846A>T (p.Thr282=) c.*97A>T (n.*97A>T) c.735+213A>T (n.735+213A>T) c.759A>T (p.Thr253=) c.633A>T (p.Thr211=) c.996A>T (p.Thr332=) c.909A>T (p.Thr303=) c.885+213A>T (n.885+213A>T) c.912A>T (p.Thr304=) | gnomAD v4 |
6 | g.25812882T>C | CA448980348 | SLC17A1 | c.846A>G (p.Thr282=) c.*97A>G (n.*97A>G) c.735+213A>G (n.735+213A>G) c.759A>G (p.Thr253=) c.633A>G (p.Thr211=) c.996A>G (p.Thr332=) c.909A>G (p.Thr303=) c.885+213A>G (n.885+213A>G) c.912A>G (p.Thr304=) | dbSNP |
6 | g.25812882T>G | CA448980347 | SLC17A1 | c.846A>C (p.Thr282=) c.*97A>C (n.*97A>C) c.735+213A>C (n.735+213A>C) c.759A>C (p.Thr253=) c.633A>C (p.Thr211=) c.996A>C (p.Thr332=) c.909A>C (p.Thr303=) c.885+213A>C (n.885+213A>C) c.912A>C (p.Thr304=) | |
6 | g.25812882T= | CA1616765615 | SLC17A1 | c.846A= (p.Thr282=) c.*97A= (n.*97A=) c.735+213A= (n.735+213A=) c.759A= (p.Thr253=) c.633A= (p.Thr211=) c.996A= (p.Thr332=) c.909A= (p.Thr303=) c.885+213A= (n.885+213A=) c.912A= (p.Thr304=) | |
6 | g.25812883G>A | CA363157911 | SLC17A1 | c.845C>T (p.Thr282Ile) c.*96C>T (n.*96C>T) c.735+212C>T (n.735+212C>T) c.758C>T (p.Thr253Ile) c.632C>T (p.Thr211Ile) c.995C>T (p.Thr332Ile) c.908C>T (p.Thr303Ile) c.885+212C>T (n.885+212C>T) c.911C>T (p.Thr304Ile) | |
6 | g.25812883G>C | CA363157912 | SLC17A1 | c.845C>G (p.Thr282Arg) c.*96C>G (n.*96C>G) c.735+212C>G (n.735+212C>G) c.758C>G (p.Thr253Arg) c.632C>G (p.Thr211Arg) c.995C>G (p.Thr332Arg) c.908C>G (p.Thr303Arg) c.885+212C>G (n.885+212C>G) c.911C>G (p.Thr304Arg) | gnomAD v4 |
6 | g.25812883G>T | CA363157914 | SLC17A1 | c.845C>A (p.Thr282Lys) c.*96C>A (n.*96C>A) c.735+212C>A (n.735+212C>A) c.758C>A (p.Thr253Lys) c.632C>A (p.Thr211Lys) c.995C>A (p.Thr332Lys) c.908C>A (p.Thr303Lys) c.885+212C>A (n.885+212C>A) c.911C>A (p.Thr304Lys) | gnomAD v4 |
6 | g.25812884T>A | CA363157919 | SLC17A1 | c.844A>T (p.Thr282Ser) c.*95A>T (n.*95A>T) c.735+211A>T (n.735+211A>T) c.757A>T (p.Thr253Ser) c.631A>T (p.Thr211Ser) c.994A>T (p.Thr332Ser) c.907A>T (p.Thr303Ser) c.885+211A>T (n.885+211A>T) c.910A>T (p.Thr304Ser) | |
6 | g.25812884T>C | CA363157917 | SLC17A1 | c.844A>G (p.Thr282Ala) c.*95A>G (n.*95A>G) c.735+211A>G (n.735+211A>G) c.757A>G (p.Thr253Ala) c.631A>G (p.Thr211Ala) c.994A>G (p.Thr332Ala) c.907A>G (p.Thr303Ala) c.885+211A>G (n.885+211A>G) c.910A>G (p.Thr304Ala) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.25812884T>G | CA363157916 | SLC17A1 | c.844A>C (p.Thr282Pro) c.*95A>C (n.*95A>C) c.735+211A>C (n.735+211A>C) c.757A>C (p.Thr253Pro) c.631A>C (p.Thr211Pro) c.994A>C (p.Thr332Pro) c.907A>C (p.Thr303Pro) c.885+211A>C (n.885+211A>C) c.910A>C (p.Thr304Pro) | |
6 | g.25812884T= | CA1616765616 | SLC17A1 | c.844A= (p.Thr282=) c.*95A= (n.*95A=) c.735+211A= (n.735+211A=) c.757A= (p.Thr253=) c.631A= (p.Thr211=) c.994A= (p.Thr332=) c.907A= (p.Thr303=) c.885+211A= (n.885+211A=) c.910A= (p.Thr304=) | |
6 | g.25812885C>A | CA363157921 | SLC17A1 | c.843G>T (p.Met281Ile) c.*94G>T (n.*94G>T) c.735+210G>T (n.735+210G>T) c.756G>T (p.Met252Ile) c.630G>T (p.Met210Ile) c.993G>T (p.Met331Ile) c.906G>T (p.Met302Ile) c.885+210G>T (n.885+210G>T) c.909G>T (p.Met303Ile) | gnomAD v4 |
6 | g.25812885C>G | CA363157923 | SLC17A1 | c.843G>C (p.Met281Ile) c.*94G>C (n.*94G>C) c.735+210G>C (n.735+210G>C) c.756G>C (p.Met252Ile) c.630G>C (p.Met210Ile) c.993G>C (p.Met331Ile) c.906G>C (p.Met302Ile) c.885+210G>C (n.885+210G>C) c.909G>C (p.Met303Ile) | |
6 | g.25812885C>T | CA363157924 | SLC17A1 | c.843G>A (p.Met281Ile) c.*94G>A (n.*94G>A) c.735+210G>A (n.735+210G>A) c.756G>A (p.Met252Ile) c.630G>A (p.Met210Ile) c.993G>A (p.Met331Ile) c.906G>A (p.Met302Ile) c.885+210G>A (n.885+210G>A) c.909G>A (p.Met303Ile) | |
6 | g.25812886A>C | CA363157925 | SLC17A1 | c.842T>G (p.Met281Arg) c.*93T>G (n.*93T>G) c.735+209T>G (n.735+209T>G) c.755T>G (p.Met252Arg) c.629T>G (p.Met210Arg) c.992T>G (p.Met331Arg) c.905T>G (p.Met302Arg) c.885+209T>G (n.885+209T>G) c.908T>G (p.Met303Arg) | |
6 | g.25812886A>G | CA363157927 | SLC17A1 | c.842T>C (p.Met281Thr) c.*93T>C (n.*93T>C) c.735+209T>C (n.735+209T>C) c.755T>C (p.Met252Thr) c.629T>C (p.Met210Thr) c.992T>C (p.Met331Thr) c.905T>C (p.Met302Thr) c.885+209T>C (n.885+209T>C) c.908T>C (p.Met303Thr) | |
6 | g.25812886A>T | CA363157928 | SLC17A1 | c.842T>A (p.Met281Lys) c.*93T>A (n.*93T>A) c.735+209T>A (n.735+209T>A) c.755T>A (p.Met252Lys) c.629T>A (p.Met210Lys) c.992T>A (p.Met331Lys) c.905T>A (p.Met302Lys) c.885+209T>A (n.885+209T>A) c.908T>A (p.Met303Lys) | |
6 | g.25812887T>A | CA363157933 | SLC17A1 | c.841A>T (p.Met281Leu) c.*92A>T (n.*92A>T) c.735+208A>T (n.735+208A>T) c.754A>T (p.Met252Leu) c.628A>T (p.Met210Leu) c.991A>T (p.Met331Leu) c.904A>T (p.Met302Leu) c.885+208A>T (n.885+208A>T) c.907A>T (p.Met303Leu) | gnomAD v4 |
6 | g.25812887T>C | CA363157930 | SLC17A1 | c.841A>G (p.Met281Val) c.*92A>G (n.*92A>G) c.735+208A>G (n.735+208A>G) c.754A>G (p.Met252Val) c.628A>G (p.Met210Val) c.991A>G (p.Met331Val) c.904A>G (p.Met302Val) c.885+208A>G (n.885+208A>G) c.907A>G (p.Met303Val) | |
6 | g.25812887T>G | CA363157931 | SLC17A1 | c.841A>C (p.Met281Leu) c.*92A>C (n.*92A>C) c.735+208A>C (n.735+208A>C) c.754A>C (p.Met252Leu) c.628A>C (p.Met210Leu) c.991A>C (p.Met331Leu) c.904A>C (p.Met302Leu) c.885+208A>C (n.885+208A>C) c.907A>C (p.Met303Leu) | |
6 | g.25812888G>A | CA448980349 | SLC17A1 | c.840C>T (p.Ile280=) c.*91C>T (n.*91C>T) c.735+207C>T (n.735+207C>T) c.753C>T (p.Ile251=) c.627C>T (p.Ile209=) c.990C>T (p.Ile330=) c.903C>T (p.Ile301=) c.885+207C>T (n.885+207C>T) c.906C>T (p.Ile302=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
6 | g.25812888G>C | CA363157935 | SLC17A1 | c.840C>G (p.Ile280Met) c.*91C>G (n.*91C>G) c.735+207C>G (n.735+207C>G) c.753C>G (p.Ile251Met) c.627C>G (p.Ile209Met) c.990C>G (p.Ile330Met) c.903C>G (p.Ile301Met) c.885+207C>G (n.885+207C>G) c.906C>G (p.Ile302Met) | |
6 | g.25812888G>T | CA448980350 | SLC17A1 | c.840C>A (p.Ile280=) c.*91C>A (n.*91C>A) c.735+207C>A (n.735+207C>A) c.753C>A (p.Ile251=) c.627C>A (p.Ile209=) c.990C>A (p.Ile330=) c.903C>A (p.Ile301=) c.885+207C>A (n.885+207C>A) c.906C>A (p.Ile302=) | gnomAD v4 |
6 | g.25812889A>C | CA363157937 | SLC17A1 | c.839T>G (p.Ile280Ser) c.*90T>G (n.*90T>G) c.735+206T>G (n.735+206T>G) c.752T>G (p.Ile251Ser) c.626T>G (p.Ile209Ser) c.989T>G (p.Ile330Ser) c.902T>G (p.Ile301Ser) c.885+206T>G (n.885+206T>G) c.905T>G (p.Ile302Ser) | |
6 | g.25812889A>G | CA363157938 | SLC17A1 | c.839T>C (p.Ile280Thr) c.*90T>C (n.*90T>C) c.735+206T>C (n.735+206T>C) c.752T>C (p.Ile251Thr) c.626T>C (p.Ile209Thr) c.989T>C (p.Ile330Thr) c.902T>C (p.Ile301Thr) c.885+206T>C (n.885+206T>C) c.905T>C (p.Ile302Thr) | |
6 | g.25812889A>T | CA363157939 | SLC17A1 | c.839T>A (p.Ile280Asn) c.*90T>A (n.*90T>A) c.735+206T>A (n.735+206T>A) c.752T>A (p.Ile251Asn) c.626T>A (p.Ile209Asn) c.989T>A (p.Ile330Asn) c.902T>A (p.Ile301Asn) c.885+206T>A (n.885+206T>A) c.905T>A (p.Ile302Asn) | |
6 | g.25812890T>A | CA363157940 | SLC17A1 | c.838A>T (p.Ile280Phe) c.*89A>T (n.*89A>T) c.735+205A>T (n.735+205A>T) c.751A>T (p.Ile251Phe) c.625A>T (p.Ile209Phe) c.988A>T (p.Ile330Phe) c.901A>T (p.Ile301Phe) c.885+205A>T (n.885+205A>T) c.904A>T (p.Ile302Phe) | |
6 | g.25812890T>C | CA363157942 | SLC17A1 | c.838A>G (p.Ile280Val) c.*89A>G (n.*89A>G) c.735+205A>G (n.735+205A>G) c.751A>G (p.Ile251Val) c.625A>G (p.Ile209Val) c.988A>G (p.Ile330Val) c.901A>G (p.Ile301Val) c.885+205A>G (n.885+205A>G) c.904A>G (p.Ile302Val) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.25812890T>G | CA363157943 | SLC17A1 | c.838A>C (p.Ile280Leu) c.*89A>C (n.*89A>C) c.735+205A>C (n.735+205A>C) c.751A>C (p.Ile251Leu) c.625A>C (p.Ile209Leu) c.988A>C (p.Ile330Leu) c.901A>C (p.Ile301Leu) c.885+205A>C (n.885+205A>C) c.904A>C (p.Ile302Leu) | |
6 | g.25812890T= | CA1616765617 | SLC17A1 | c.838A= (p.Ile280=) c.*89A= (n.*89A=) c.735+205A= (n.735+205A=) c.751A= (p.Ile251=) c.625A= (p.Ile209=) c.988A= (p.Ile330=) c.901A= (p.Ile301=) c.885+205A= (n.885+205A=) c.904A= (p.Ile302=) | |
6 | g.25812891G>A | CA3662588 | SLC17A1 | c.837C>T (p.Asn279=) c.*88C>T (n.*88C>T) c.735+204C>T (n.735+204C>T) c.750C>T (p.Asn250=) c.624C>T (p.Asn208=) c.987C>T (p.Asn329=) c.900C>T (p.Asn300=) c.885+204C>T (n.885+204C>T) c.903C>T (p.Asn301=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.25812891G>C | CA363157946 | SLC17A1 | c.837C>G (p.Asn279Lys) c.*88C>G (n.*88C>G) c.735+204C>G (n.735+204C>G) c.750C>G (p.Asn250Lys) c.624C>G (p.Asn208Lys) c.987C>G (p.Asn329Lys) c.900C>G (p.Asn300Lys) c.885+204C>G (n.885+204C>G) c.903C>G (p.Asn301Lys) | |
6 | g.25812891G= | CA1616765618 | SLC17A1 | c.837C= (p.Asn279=) c.*88C= (n.*88C=) c.735+204C= (n.735+204C=) c.750C= (p.Asn250=) c.624C= (p.Asn208=) c.987C= (p.Asn329=) c.900C= (p.Asn300=) c.885+204C= (n.885+204C=) c.903C= (p.Asn301=) | |
6 | g.25812891G>T | CA363157947 | SLC17A1 | c.837C>A (p.Asn279Lys) c.*88C>A (n.*88C>A) c.735+204C>A (n.735+204C>A) c.750C>A (p.Asn250Lys) c.624C>A (p.Asn208Lys) c.987C>A (p.Asn329Lys) c.900C>A (p.Asn300Lys) c.885+204C>A (n.885+204C>A) c.903C>A (p.Asn301Lys) | |
6 | g.25812892T>A | CA363157949 | SLC17A1 | c.836A>T (p.Asn279Ile) c.*87A>T (n.*87A>T) c.735+203A>T (n.735+203A>T) c.749A>T (p.Asn250Ile) c.623A>T (p.Asn208Ile) c.986A>T (p.Asn329Ile) c.899A>T (p.Asn300Ile) c.885+203A>T (n.885+203A>T) c.902A>T (p.Asn301Ile) | |
6 | g.25812892T>C | CA363157950 | SLC17A1 | c.836A>G (p.Asn279Ser) c.*87A>G (n.*87A>G) c.735+203A>G (n.735+203A>G) c.749A>G (p.Asn250Ser) c.623A>G (p.Asn208Ser) c.986A>G (p.Asn329Ser) c.899A>G (p.Asn300Ser) c.885+203A>G (n.885+203A>G) c.902A>G (p.Asn301Ser) | |
6 | g.25812892T>G | CA363157952 | SLC17A1 | c.836A>C (p.Asn279Thr) c.*87A>C (n.*87A>C) c.735+203A>C (n.735+203A>C) c.749A>C (p.Asn250Thr) c.623A>C (p.Asn208Thr) c.986A>C (p.Asn329Thr) c.899A>C (p.Asn300Thr) c.885+203A>C (n.885+203A>C) c.902A>C (p.Asn301Thr) | |
6 | g.25812893T>A | CA363157954 | SLC17A1 | c.835A>T (p.Asn279Tyr) c.*86A>T (n.*86A>T) c.735+202A>T (n.735+202A>T) c.748A>T (p.Asn250Tyr) c.622A>T (p.Asn208Tyr) c.985A>T (p.Asn329Tyr) c.898A>T (p.Asn300Tyr) c.885+202A>T (n.885+202A>T) c.901A>T (p.Asn301Tyr) | |
6 | g.25812893T>C | CA363157957 | SLC17A1 | c.835A>G (p.Asn279Asp) c.*86A>G (n.*86A>G) c.735+202A>G (n.735+202A>G) c.748A>G (p.Asn250Asp) c.622A>G (p.Asn208Asp) c.985A>G (p.Asn329Asp) c.898A>G (p.Asn300Asp) c.885+202A>G (n.885+202A>G) c.901A>G (p.Asn301Asp) | |
6 | g.25812893T>G | CA363157956 | SLC17A1 | c.835A>C (p.Asn279His) c.*86A>C (n.*86A>C) c.735+202A>C (n.735+202A>C) c.748A>C (p.Asn250His) c.622A>C (p.Asn208His) c.985A>C (p.Asn329His) c.898A>C (p.Asn300His) c.885+202A>C (n.885+202A>C) c.901A>C (p.Asn301His) | |
6 | g.25812894A>C | CA363157959 | SLC17A1 | c.834T>G (p.His278Gln) c.*85T>G (n.*85T>G) c.735+201T>G (n.735+201T>G) c.747T>G (p.His249Gln) c.621T>G (p.His207Gln) c.984T>G (p.His328Gln) c.897T>G (p.His299Gln) c.885+201T>G (n.885+201T>G) c.900T>G (p.His300Gln) | |
6 | g.25812894A>G | CA448980351 | SLC17A1 | c.834T>C (p.His278=) c.*85T>C (n.*85T>C) c.735+201T>C (n.735+201T>C) c.747T>C (p.His249=) c.621T>C (p.His207=) c.984T>C (p.His328=) c.897T>C (p.His299=) c.885+201T>C (n.885+201T>C) c.900T>C (p.His300=) | |
6 | g.25812894A>T | CA363157961 | SLC17A1 | c.834T>A (p.His278Gln) c.*85T>A (n.*85T>A) c.735+201T>A (n.735+201T>A) c.747T>A (p.His249Gln) c.621T>A (p.His207Gln) c.984T>A (p.His328Gln) c.897T>A (p.His299Gln) c.885+201T>A (n.885+201T>A) c.900T>A (p.His300Gln) | gnomAD v4 |
6 | g.25812895T>A | CA363157963 | SLC17A1 | c.833A>T (p.His278Leu) c.*84A>T (n.*84A>T) c.735+200A>T (n.735+200A>T) c.746A>T (p.His249Leu) c.620A>T (p.His207Leu) c.983A>T (p.His328Leu) c.896A>T (p.His299Leu) c.885+200A>T (n.885+200A>T) c.899A>T (p.His300Leu) | |
6 | g.25812895T>C | CA3662589 | SLC17A1 | c.833A>G (p.His278Arg) c.*84A>G (n.*84A>G) c.735+200A>G (n.735+200A>G) c.746A>G (p.His249Arg) c.620A>G (p.His207Arg) c.983A>G (p.His328Arg) c.896A>G (p.His299Arg) c.885+200A>G (n.885+200A>G) c.899A>G (p.His300Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.25812895T>G | CA363157964 | SLC17A1 | c.833A>C (p.His278Pro) c.*84A>C (n.*84A>C) c.735+200A>C (n.735+200A>C) c.746A>C (p.His249Pro) c.620A>C (p.His207Pro) c.983A>C (p.His328Pro) c.896A>C (p.His299Pro) c.885+200A>C (n.885+200A>C) c.899A>C (p.His300Pro) | |
6 | g.25812895T= | CA1616765619 | SLC17A1 | c.833A= (p.His278=) c.*84A= (n.*84A=) c.735+200A= (n.735+200A=) c.746A= (p.His249=) c.620A= (p.His207=) c.983A= (p.His328=) c.896A= (p.His299=) c.885+200A= (n.885+200A=) c.899A= (p.His300=) | |
6 | g.25812896G>A | CA363157965 | SLC17A1 | c.832C>T (p.His278Tyr) c.*83C>T (n.*83C>T) c.735+199C>T (n.735+199C>T) c.745C>T (p.His249Tyr) c.619C>T (p.His207Tyr) c.982C>T (p.His328Tyr) c.895C>T (p.His299Tyr) c.885+199C>T (n.885+199C>T) c.898C>T (p.His300Tyr) | |
6 | g.25812896G>C | CA363157967 | SLC17A1 | c.832C>G (p.His278Asp) c.*83C>G (n.*83C>G) c.735+199C>G (n.735+199C>G) c.745C>G (p.His249Asp) c.619C>G (p.His207Asp) c.982C>G (p.His328Asp) c.895C>G (p.His299Asp) c.885+199C>G (n.885+199C>G) c.898C>G (p.His300Asp) | |
6 | g.25812896G>T | CA363157968 | SLC17A1 | c.832C>A (p.His278Asn) c.*83C>A (n.*83C>A) c.735+199C>A (n.735+199C>A) c.745C>A (p.His249Asn) c.619C>A (p.His207Asn) c.982C>A (p.His328Asn) c.895C>A (p.His299Asn) c.885+199C>A (n.885+199C>A) c.898C>A (p.His300Asn) | |
6 | g.25812897T>A | CA448980352 | SLC17A1 | c.831A>T (p.Ser277=) c.*82A>T (n.*82A>T) c.735+198A>T (n.735+198A>T) c.744A>T (p.Ser248=) c.618A>T (p.Ser206=) c.981A>T (p.Ser327=) c.894A>T (p.Ser298=) c.885+198A>T (n.885+198A>T) c.897A>T (p.Ser299=) | |
6 | g.25812897T>C | CA448980354 | SLC17A1 | c.831A>G (p.Ser277=) c.*82A>G (n.*82A>G) c.735+198A>G (n.735+198A>G) c.744A>G (p.Ser248=) c.618A>G (p.Ser206=) c.981A>G (p.Ser327=) c.894A>G (p.Ser298=) c.885+198A>G (n.885+198A>G) c.897A>G (p.Ser299=) | |
6 | g.25812897T>G | CA448980353 | SLC17A1 | c.831A>C (p.Ser277=) c.*82A>C (n.*82A>C) c.735+198A>C (n.735+198A>C) c.744A>C (p.Ser248=) c.618A>C (p.Ser206=) c.981A>C (p.Ser327=) c.894A>C (p.Ser298=) c.885+198A>C (n.885+198A>C) c.897A>C (p.Ser299=) | |
6 | g.25812898G>A | CA363157970 | SLC17A1 | c.830C>T (p.Ser277Leu) c.*81C>T (n.*81C>T) c.735+197C>T (n.735+197C>T) c.743C>T (p.Ser248Leu) c.617C>T (p.Ser206Leu) c.980C>T (p.Ser327Leu) c.893C>T (p.Ser298Leu) c.885+197C>T (n.885+197C>T) c.896C>T (p.Ser299Leu) | |
6 | g.25812898G>C | CA363157971 | SLC17A1 | c.830C>G (p.Ser277Ter) c.*81C>G (n.*81C>G) c.735+197C>G (n.735+197C>G) c.743C>G (p.Ser248Ter) c.617C>G (p.Ser206Ter) c.980C>G (p.Ser327Ter) c.893C>G (p.Ser298Ter) c.885+197C>G (n.885+197C>G) c.896C>G (p.Ser299Ter) | |
6 | g.25812898G>T | CA363157972 | SLC17A1 | c.830C>A (p.Ser277Ter) c.*81C>A (n.*81C>A) c.735+197C>A (n.735+197C>A) c.743C>A (p.Ser248Ter) c.617C>A (p.Ser206Ter) c.980C>A (p.Ser327Ter) c.893C>A (p.Ser298Ter) c.885+197C>A (n.885+197C>A) c.896C>A (p.Ser299Ter) | gnomAD v4 |
6 | g.25812899A>C | CA363157974 | SLC17A1 | c.829T>G (p.Ser277Ala) c.*80T>G (n.*80T>G) c.735+196T>G (n.735+196T>G) c.742T>G (p.Ser248Ala) c.616T>G (p.Ser206Ala) c.979T>G (p.Ser327Ala) c.892T>G (p.Ser298Ala) c.885+196T>G (n.885+196T>G) c.895T>G (p.Ser299Ala) | |
6 | g.25812899A>G | CA363157976 | SLC17A1 | c.829T>C (p.Ser277Pro) c.*80T>C (n.*80T>C) c.735+196T>C (n.735+196T>C) c.742T>C (p.Ser248Pro) c.616T>C (p.Ser206Pro) c.979T>C (p.Ser327Pro) c.892T>C (p.Ser298Pro) c.885+196T>C (n.885+196T>C) c.895T>C (p.Ser299Pro) | |
6 | g.25812899A>T | CA363157977 | SLC17A1 | c.829T>A (p.Ser277Thr) c.*80T>A (n.*80T>A) c.735+196T>A (n.735+196T>A) c.742T>A (p.Ser248Thr) c.616T>A (p.Ser206Thr) c.979T>A (p.Ser327Thr) c.892T>A (p.Ser298Thr) c.885+196T>A (n.885+196T>A) c.895T>A (p.Ser299Thr) | |
6 | g.25812900C>A | CA363157981 | SLC17A1 | c.828G>T (p.Trp276Cys) c.*79G>T (n.*79G>T) c.735+195G>T (n.735+195G>T) c.741G>T (p.Trp247Cys) c.615G>T (p.Trp205Cys) c.978G>T (p.Trp326Cys) c.891G>T (p.Trp297Cys) c.885+195G>T (n.885+195G>T) c.894G>T (p.Trp298Cys) | gnomAD v4 |
6 | g.25812900C= | CA1616765620 | SLC17A1 | c.828G= (p.Trp276=) c.*79G= (n.*79G=) c.735+195G= (n.735+195G=) c.741G= (p.Trp247=) c.615G= (p.Trp205=) c.978G= (p.Trp326=) c.891G= (p.Trp297=) c.885+195G= (n.885+195G=) c.894G= (p.Trp298=) | |
6 | g.25812900C>G | CA363157978 | SLC17A1 | c.828G>C (p.Trp276Cys) c.*79G>C (n.*79G>C) c.735+195G>C (n.735+195G>C) c.741G>C (p.Trp247Cys) c.615G>C (p.Trp205Cys) c.978G>C (p.Trp326Cys) c.891G>C (p.Trp297Cys) c.885+195G>C (n.885+195G>C) c.894G>C (p.Trp298Cys) | |
6 | g.25812900C>T | CA363157979 | SLC17A1 | c.828G>A (p.Trp276Ter) c.*79G>A (n.*79G>A) c.735+195G>A (n.735+195G>A) c.741G>A (p.Trp247Ter) c.615G>A (p.Trp205Ter) c.978G>A (p.Trp326Ter) c.891G>A (p.Trp297Ter) c.885+195G>A (n.885+195G>A) c.894G>A (p.Trp298Ter) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.25812901C>A | CA363157983 | SLC17A1 | c.827G>T (p.Trp276Leu) c.*78G>T (n.*78G>T) c.735+194G>T (n.735+194G>T) c.740G>T (p.Trp247Leu) c.614G>T (p.Trp205Leu) c.977G>T (p.Trp326Leu) c.890G>T (p.Trp297Leu) c.885+194G>T (n.885+194G>T) c.893G>T (p.Trp298Leu) | |
6 | g.25812901C= | CA1616765621 | SLC17A1 | c.827G= (p.Trp276=) c.*78G= (n.*78G=) c.735+194G= (n.735+194G=) c.740G= (p.Trp247=) c.614G= (p.Trp205=) c.977G= (p.Trp326=) c.890G= (p.Trp297=) c.885+194G= (n.885+194G=) c.893G= (p.Trp298=) | |
6 | g.25812901C>G | CA363157984 | SLC17A1 | c.827G>C (p.Trp276Ser) c.*78G>C (n.*78G>C) c.735+194G>C (n.735+194G>C) c.740G>C (p.Trp247Ser) c.614G>C (p.Trp205Ser) c.977G>C (p.Trp326Ser) c.890G>C (p.Trp297Ser) c.885+194G>C (n.885+194G>C) c.893G>C (p.Trp298Ser) | |
6 | g.25812901C>T | CA3662590 | SLC17A1 | c.827G>A (p.Trp276Ter) c.*78G>A (n.*78G>A) c.735+194G>A (n.735+194G>A) c.740G>A (p.Trp247Ter) c.614G>A (p.Trp205Ter) c.977G>A (p.Trp326Ter) c.890G>A (p.Trp297Ter) c.885+194G>A (n.885+194G>A) c.893G>A (p.Trp298Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.25812902A>C | CA363157990 | SLC17A1 | c.826T>G (p.Trp276Gly) c.*77T>G (n.*77T>G) c.735+193T>G (n.735+193T>G) c.739T>G (p.Trp247Gly) c.613T>G (p.Trp205Gly) c.976T>G (p.Trp326Gly) c.889T>G (p.Trp297Gly) c.885+193T>G (n.885+193T>G) c.892T>G (p.Trp298Gly) | |
6 | g.25812902A>G | CA363157992 | SLC17A1 | c.826T>C (p.Trp276Arg) c.*77T>C (n.*77T>C) c.735+193T>C (n.735+193T>C) c.739T>C (p.Trp247Arg) c.613T>C (p.Trp205Arg) c.976T>C (p.Trp326Arg) c.889T>C (p.Trp297Arg) c.885+193T>C (n.885+193T>C) c.892T>C (p.Trp298Arg) | |
6 | g.25812902A>T | CA363157993 | SLC17A1 | c.826T>A (p.Trp276Arg) c.*77T>A (n.*77T>A) c.735+193T>A (n.735+193T>A) c.739T>A (p.Trp247Arg) c.613T>A (p.Trp205Arg) c.976T>A (p.Trp326Arg) c.889T>A (p.Trp297Arg) c.885+193T>A (n.885+193T>A) c.892T>A (p.Trp298Arg) | |
6 | g.25812903G>A | CA448980355 | SLC17A1 | c.825C>T (p.Phe275=) c.*76C>T (n.*76C>T) c.735+192C>T (n.735+192C>T) c.738C>T (p.Phe246=) c.612C>T (p.Phe204=) c.975C>T (p.Phe325=) c.888C>T (p.Phe296=) c.885+192C>T (n.885+192C>T) c.891C>T (p.Phe297=) | COSMIC |
6 | g.25812903G>C | CA363157995 | SLC17A1 | c.825C>G (p.Phe275Leu) c.*76C>G (n.*76C>G) c.735+192C>G (n.735+192C>G) c.738C>G (p.Phe246Leu) c.612C>G (p.Phe204Leu) c.975C>G (p.Phe325Leu) c.888C>G (p.Phe296Leu) c.885+192C>G (n.885+192C>G) c.891C>G (p.Phe297Leu) | |
6 | g.25812903G>T | CA363157997 | SLC17A1 | c.825C>A (p.Phe275Leu) c.*76C>A (n.*76C>A) c.735+192C>A (n.735+192C>A) c.738C>A (p.Phe246Leu) c.612C>A (p.Phe204Leu) c.975C>A (p.Phe325Leu) c.888C>A (p.Phe296Leu) c.885+192C>A (n.885+192C>A) c.891C>A (p.Phe297Leu) | |
6 | g.25812904A>C | CA363157999 | SLC17A1 | c.824T>G (p.Phe275Cys) c.*75T>G (n.*75T>G) c.735+191T>G (n.735+191T>G) c.737T>G (p.Phe246Cys) c.611T>G (p.Phe204Cys) c.974T>G (p.Phe325Cys) c.887T>G (p.Phe296Cys) c.885+191T>G (n.885+191T>G) c.890T>G (p.Phe297Cys) | COSMIC |
6 | g.25812904A>G | CA363158000 | SLC17A1 | c.824T>C (p.Phe275Ser) c.*75T>C (n.*75T>C) c.735+191T>C (n.735+191T>C) c.737T>C (p.Phe246Ser) c.611T>C (p.Phe204Ser) c.974T>C (p.Phe325Ser) c.887T>C (p.Phe296Ser) c.885+191T>C (n.885+191T>C) c.890T>C (p.Phe297Ser) | |
6 | g.25812904A>T | CA363158002 | SLC17A1 | c.824T>A (p.Phe275Tyr) c.*75T>A (n.*75T>A) c.735+191T>A (n.735+191T>A) c.737T>A (p.Phe246Tyr) c.611T>A (p.Phe204Tyr) c.974T>A (p.Phe325Tyr) c.887T>A (p.Phe296Tyr) c.885+191T>A (n.885+191T>A) c.890T>A (p.Phe297Tyr) | |
6 | g.25812905A>C | CA363158005 | SLC17A1 | c.823T>G (p.Phe275Val) c.*74T>G (n.*74T>G) c.735+190T>G (n.735+190T>G) c.736T>G (p.Phe246Val) c.610T>G (p.Phe204Val) c.973T>G (p.Phe325Val) c.886T>G (p.Phe296Val) c.885+190T>G (n.885+190T>G) c.889T>G (p.Phe297Val) | |
6 | g.25812905A>G | CA363158007 | SLC17A1 | c.823T>C (p.Phe275Leu) c.*74T>C (n.*74T>C) c.735+190T>C (n.735+190T>C) c.736T>C (p.Phe246Leu) c.610T>C (p.Phe204Leu) c.973T>C (p.Phe325Leu) c.886T>C (p.Phe296Leu) c.885+190T>C (n.885+190T>C) c.889T>C (p.Phe297Leu) | |
6 | g.25812905A>T | CA363158004 | SLC17A1 | c.823T>A (p.Phe275Ile) c.*74T>A (n.*74T>A) c.735+190T>A (n.735+190T>A) c.736T>A (p.Phe246Ile) c.610T>A (p.Phe204Ile) c.973T>A (p.Phe325Ile) c.886T>A (p.Phe296Ile) c.885+190T>A (n.885+190T>A) c.889T>A (p.Phe297Ile) | |
6 | g.25812906A>C | CA363158009 | SLC17A1 | c.822T>G (p.Phe274Leu) c.*73T>G (n.*73T>G) c.735+189T>G (n.735+189T>G) c.735T>G (p.Phe245Leu) c.609T>G (p.Phe203Leu) c.972T>G (p.Phe324Leu) c.885T>G (p.Phe295Leu) c.885+189T>G (n.885+189T>G) c.888T>G (p.Phe296Leu) | |
6 | g.25812906A>G | CA448980356 | SLC17A1 | c.822T>C (p.Phe274=) c.*73T>C (n.*73T>C) c.735+189T>C (n.735+189T>C) c.735T>C (p.Phe245=) c.609T>C (p.Phe203=) c.972T>C (p.Phe324=) c.885T>C (p.Phe295=) c.885+189T>C (n.885+189T>C) c.888T>C (p.Phe296=) | |
6 | g.25812906A>T | CA363158011 | SLC17A1 | c.822T>A (p.Phe274Leu) c.*73T>A (n.*73T>A) c.735+189T>A (n.735+189T>A) c.735T>A (p.Phe245Leu) c.609T>A (p.Phe203Leu) c.972T>A (p.Phe324Leu) c.885T>A (p.Phe295Leu) c.885+189T>A (n.885+189T>A) c.888T>A (p.Phe296Leu) | |
6 | g.25812907A>C | CA363158012 | SLC17A1 | c.821T>G (p.Phe274Cys) c.*72T>G (n.*72T>G) c.735+188T>G (n.735+188T>G) c.734T>G (p.Phe245Cys) c.608T>G (p.Phe203Cys) c.971T>G (p.Phe324Cys) c.884T>G (p.Phe295Cys) c.885+188T>G (n.885+188T>G) c.887T>G (p.Phe296Cys) | |
6 | g.25812907A>G | CA363158014 | SLC17A1 | c.821T>C (p.Phe274Ser) c.*72T>C (n.*72T>C) c.735+188T>C (n.735+188T>C) c.734T>C (p.Phe245Ser) c.608T>C (p.Phe203Ser) c.971T>C (p.Phe324Ser) c.884T>C (p.Phe295Ser) c.885+188T>C (n.885+188T>C) c.887T>C (p.Phe296Ser) | |
6 | g.25812907A>T | CA363158016 | SLC17A1 | c.821T>A (p.Phe274Tyr) c.*72T>A (n.*72T>A) c.735+188T>A (n.735+188T>A) c.734T>A (p.Phe245Tyr) c.608T>A (p.Phe203Tyr) c.971T>A (p.Phe324Tyr) c.884T>A (p.Phe295Tyr) c.885+188T>A (n.885+188T>A) c.887T>A (p.Phe296Tyr) | |
6 | g.25812908A>C | CA363158018 | SLC17A1 | c.820T>G (p.Phe274Val) c.*71T>G (n.*71T>G) c.735+187T>G (n.735+187T>G) c.733T>G (p.Phe245Val) c.607T>G (p.Phe203Val) c.970T>G (p.Phe324Val) c.883T>G (p.Phe295Val) c.885+187T>G (n.885+187T>G) c.886T>G (p.Phe296Val) | |
6 | g.25812908A>G | CA363158019 | SLC17A1 | c.820T>C (p.Phe274Leu) c.*71T>C (n.*71T>C) c.735+187T>C (n.735+187T>C) c.733T>C (p.Phe245Leu) c.607T>C (p.Phe203Leu) c.970T>C (p.Phe324Leu) c.883T>C (p.Phe295Leu) c.885+187T>C (n.885+187T>C) c.886T>C (p.Phe296Leu) | |
6 | g.25812908A>T | CA363158021 | SLC17A1 | c.820T>A (p.Phe274Ile) c.*71T>A (n.*71T>A) c.735+187T>A (n.735+187T>A) c.733T>A (p.Phe245Ile) c.607T>A (p.Phe203Ile) c.970T>A (p.Phe324Ile) c.883T>A (p.Phe295Ile) c.885+187T>A (n.885+187T>A) c.886T>A (p.Phe296Ile) | |
6 | g.25812909C>A | CA448980357 | SLC17A1 | c.819G>T (p.Thr273=) c.*70G>T (n.*70G>T) c.735+186G>T (n.735+186G>T) c.732G>T (p.Thr244=) c.606G>T (p.Thr202=) c.969G>T (p.Thr323=) c.882G>T (p.Thr294=) c.885+186G>T (n.885+186G>T) c.885G>T (p.Thr295=) | gnomAD v4 |
6 | g.25812909C= | CA1616765622 | SLC17A1 | c.819G= (p.Thr273=) c.*70G= (n.*70G=) c.735+186G= (n.735+186G=) c.732G= (p.Thr244=) c.606G= (p.Thr202=) c.969G= (p.Thr323=) c.882G= (p.Thr294=) c.885+186G= (n.885+186G=) c.885G= (p.Thr295=) | |
6 | g.25812909C>G | CA448980358 | SLC17A1 | c.819G>C (p.Thr273=) c.*70G>C (n.*70G>C) c.735+186G>C (n.735+186G>C) c.732G>C (p.Thr244=) c.606G>C (p.Thr202=) c.969G>C (p.Thr323=) c.882G>C (p.Thr294=) c.885+186G>C (n.885+186G>C) c.885G>C (p.Thr295=) | |
6 | g.25812909C>T | CA3662591 | SLC17A1 | c.819G>A (p.Thr273=) c.*70G>A (n.*70G>A) c.735+186G>A (n.735+186G>A) c.732G>A (p.Thr244=) c.606G>A (p.Thr202=) c.969G>A (p.Thr323=) c.882G>A (p.Thr294=) c.885+186G>A (n.885+186G>A) c.885G>A (p.Thr295=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.25812910G>A | CA3662592 | SLC17A1 | c.818C>T (p.Thr273Met) c.*69C>T (n.*69C>T) c.735+185C>T (n.735+185C>T) c.731C>T (p.Thr244Met) c.605C>T (p.Thr202Met) c.968C>T (p.Thr323Met) c.881C>T (p.Thr294Met) c.885+185C>T (n.885+185C>T) c.884C>T (p.Thr295Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.25812910G>C | CA363158024 | SLC17A1 | c.818C>G (p.Thr273Arg) c.*69C>G (n.*69C>G) c.735+185C>G (n.735+185C>G) c.731C>G (p.Thr244Arg) c.605C>G (p.Thr202Arg) c.968C>G (p.Thr323Arg) c.881C>G (p.Thr294Arg) c.885+185C>G (n.885+185C>G) c.884C>G (p.Thr295Arg) | |
6 | g.25812910G= | CA1616765624 | SLC17A1 | c.818C= (p.Thr273=) c.*69C= (n.*69C=) c.735+185C= (n.735+185C=) c.731C= (p.Thr244=) c.605C= (p.Thr202=) c.968C= (p.Thr323=) c.881C= (p.Thr294=) c.885+185C= (n.885+185C=) c.884C= (p.Thr295=) | |
6 | g.25812910G>T | CA363158026 | SLC17A1 | c.818C>A (p.Thr273Lys) c.*69C>A (n.*69C>A) c.735+185C>A (n.735+185C>A) c.731C>A (p.Thr244Lys) c.605C>A (p.Thr202Lys) c.968C>A (p.Thr323Lys) c.881C>A (p.Thr294Lys) c.885+185C>A (n.885+185C>A) c.884C>A (p.Thr295Lys) | |
6 | g.25812910_25812911delinsGT | CA1616765623 | SLC17A1 | c.817_818delinsAC (p.Thr273=) c.*68_*69delinsAC (n.*68_*69delinsAC) c.735+184_735+185delinsAC (n.735+184_735+185delinsAC) c.730_731delinsAC (p.Thr244=) c.604_605delinsAC (p.Thr202=) c.967_968delinsAC (p.Thr323=) c.880_881delinsAC (p.Thr294=) c.885+184_885+185delinsAC (n.885+184_885+185delinsAC) c.883_884delinsAC (p.Thr295=) | |
6 | g.25812911del | CA3662593 | SLC17A1 | c.817del (p.Thr273ArgfsTer9) c.*68del (n.*68del) c.735+184del (n.735+184del) c.730del (p.Thr244ArgfsTer9) c.604del (p.Thr202ArgfsTer9) c.967del (p.Thr323ArgfsTer9) c.880del (p.Thr294ArgfsTer9) c.885+184del (n.885+184del) c.883del (p.Thr295ArgfsTer9) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.25812911T>A | CA363158029 | SLC17A1 | c.817A>T (p.Thr273Ser) c.*68A>T (n.*68A>T) c.735+184A>T (n.735+184A>T) c.730A>T (p.Thr244Ser) c.604A>T (p.Thr202Ser) c.967A>T (p.Thr323Ser) c.880A>T (p.Thr294Ser) c.885+184A>T (n.885+184A>T) c.883A>T (p.Thr295Ser) | |
6 | g.25812911T>C | CA363158031 | SLC17A1 | c.817A>G (p.Thr273Ala) c.*68A>G (n.*68A>G) c.735+184A>G (n.735+184A>G) c.730A>G (p.Thr244Ala) c.604A>G (p.Thr202Ala) c.967A>G (p.Thr323Ala) c.880A>G (p.Thr294Ala) c.885+184A>G (n.885+184A>G) c.883A>G (p.Thr295Ala) | |
6 | g.25812911T>G | CA363158028 | SLC17A1 | c.817A>C (p.Thr273Pro) c.*68A>C (n.*68A>C) c.735+184A>C (n.735+184A>C) c.730A>C (p.Thr244Pro) c.604A>C (p.Thr202Pro) c.967A>C (p.Thr323Pro) c.880A>C (p.Thr294Pro) c.885+184A>C (n.885+184A>C) c.883A>C (p.Thr295Pro) | |
6 | g.25812912A= | CA1616765625 | SLC17A1 | c.816T= (p.Phe272=) c.*67T= (n.*67T=) c.735+183T= (n.735+183T=) c.729T= (p.Phe243=) c.603T= (p.Phe201=) c.966T= (p.Phe322=) c.879T= (p.Phe293=) c.885+183T= (n.885+183T=) c.882T= (p.Phe294=) | |
6 | g.25812912A>C | CA363158033 | SLC17A1 | c.816T>G (p.Phe272Leu) c.*67T>G (n.*67T>G) c.735+183T>G (n.735+183T>G) c.729T>G (p.Phe243Leu) c.603T>G (p.Phe201Leu) c.966T>G (p.Phe322Leu) c.879T>G (p.Phe293Leu) c.885+183T>G (n.885+183T>G) c.882T>G (p.Phe294Leu) | |
6 | g.25812912A>G | CA136229876 | SLC17A1 | c.816T>C (p.Phe272=) c.*67T>C (n.*67T>C) c.735+183T>C (n.735+183T>C) c.729T>C (p.Phe243=) c.603T>C (p.Phe201=) c.966T>C (p.Phe322=) c.879T>C (p.Phe293=) c.885+183T>C (n.885+183T>C) c.882T>C (p.Phe294=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.25812912A>T | CA363158035 | SLC17A1 | c.816T>A (p.Phe272Leu) c.*67T>A (n.*67T>A) c.735+183T>A (n.735+183T>A) c.729T>A (p.Phe243Leu) c.603T>A (p.Phe201Leu) c.966T>A (p.Phe322Leu) c.879T>A (p.Phe293Leu) c.885+183T>A (n.885+183T>A) c.882T>A (p.Phe294Leu) | gnomAD v4 |
6 | g.25812913A>C | CA363158037 | SLC17A1 | c.815T>G (p.Phe272Cys) c.*66T>G (n.*66T>G) c.735+182T>G (n.735+182T>G) c.728T>G (p.Phe243Cys) c.602T>G (p.Phe201Cys) c.965T>G (p.Phe322Cys) c.878T>G (p.Phe293Cys) c.885+182T>G (n.885+182T>G) c.881T>G (p.Phe294Cys) | |
6 | g.25812913A>G | CA363158039 | SLC17A1 | c.815T>C (p.Phe272Ser) c.*66T>C (n.*66T>C) c.735+182T>C (n.735+182T>C) c.728T>C (p.Phe243Ser) c.602T>C (p.Phe201Ser) c.965T>C (p.Phe322Ser) c.878T>C (p.Phe293Ser) c.885+182T>C (n.885+182T>C) c.881T>C (p.Phe294Ser) | |
6 | g.25812913A>T | CA363158040 | SLC17A1 | c.815T>A (p.Phe272Tyr) c.*66T>A (n.*66T>A) c.735+182T>A (n.735+182T>A) c.728T>A (p.Phe243Tyr) c.602T>A (p.Phe201Tyr) c.965T>A (p.Phe322Tyr) c.878T>A (p.Phe293Tyr) c.885+182T>A (n.885+182T>A) c.881T>A (p.Phe294Tyr) | |
6 | g.25812914A>C | CA363158045 | SLC17A1 | c.814T>G (p.Phe272Val) c.*65T>G (n.*65T>G) c.735+181T>G (n.735+181T>G) c.727T>G (p.Phe243Val) c.601T>G (p.Phe201Val) c.964T>G (p.Phe322Val) c.877T>G (p.Phe293Val) c.885+181T>G (n.885+181T>G) c.880T>G (p.Phe294Val) | |
6 | g.25812914A>G | CA363158041 | SLC17A1 | c.814T>C (p.Phe272Leu) c.*65T>C (n.*65T>C) c.735+181T>C (n.735+181T>C) c.727T>C (p.Phe243Leu) c.601T>C (p.Phe201Leu) c.964T>C (p.Phe322Leu) c.877T>C (p.Phe293Leu) c.885+181T>C (n.885+181T>C) c.880T>C (p.Phe294Leu) | |
6 | g.25812914A>T | CA363158043 | SLC17A1 | c.814T>A (p.Phe272Ile) c.*65T>A (n.*65T>A) c.735+181T>A (n.735+181T>A) c.727T>A (p.Phe243Ile) c.601T>A (p.Phe201Ile) c.964T>A (p.Phe322Ile) c.877T>A (p.Phe293Ile) c.885+181T>A (n.885+181T>A) c.880T>A (p.Phe294Ile) | |
6 | g.25812915A= | CA1616765626 | SLC17A1 | c.813T= (p.Ser271=) c.*64T= (n.*64T=) c.735+180T= (n.735+180T=) c.726T= (p.Ser242=) c.600T= (p.Ser200=) c.963T= (p.Ser321=) c.876T= (p.Ser292=) c.885+180T= (n.885+180T=) c.879T= (p.Ser293=) | |
6 | g.25812915A>C | CA363158047 | SLC17A1 | c.813T>G (p.Ser271Arg) c.*64T>G (n.*64T>G) c.735+180T>G (n.735+180T>G) c.726T>G (p.Ser242Arg) c.600T>G (p.Ser200Arg) c.963T>G (p.Ser321Arg) c.876T>G (p.Ser292Arg) c.885+180T>G (n.885+180T>G) c.879T>G (p.Ser293Arg) | |
6 | g.25812915A>G | CA448980359 | SLC17A1 | c.813T>C (p.Ser271=) c.*64T>C (n.*64T>C) c.735+180T>C (n.735+180T>C) c.726T>C (p.Ser242=) c.600T>C (p.Ser200=) c.963T>C (p.Ser321=) c.876T>C (p.Ser292=) c.885+180T>C (n.885+180T>C) c.879T>C (p.Ser293=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.25812915A>T | CA363158048 | SLC17A1 | c.813T>A (p.Ser271Arg) c.*64T>A (n.*64T>A) c.735+180T>A (n.735+180T>A) c.726T>A (p.Ser242Arg) c.600T>A (p.Ser200Arg) c.963T>A (p.Ser321Arg) c.876T>A (p.Ser292Arg) c.885+180T>A (n.885+180T>A) c.879T>A (p.Ser293Arg) | |
6 | g.25812916C>A | CA363158049 | SLC17A1 | c.812G>T (p.Ser271Ile) c.*63G>T (n.*63G>T) c.735+179G>T (n.735+179G>T) c.725G>T (p.Ser242Ile) c.599G>T (p.Ser200Ile) c.962G>T (p.Ser321Ile) c.875G>T (p.Ser292Ile) c.885+179G>T (n.885+179G>T) c.878G>T (p.Ser293Ile) | |
6 | g.25812916C>G | CA363158050 | SLC17A1 | c.812G>C (p.Ser271Thr) c.*63G>C (n.*63G>C) c.735+179G>C (n.735+179G>C) c.725G>C (p.Ser242Thr) c.599G>C (p.Ser200Thr) c.962G>C (p.Ser321Thr) c.875G>C (p.Ser292Thr) c.885+179G>C (n.885+179G>C) c.878G>C (p.Ser293Thr) | |
6 | g.25812916C>T | CA363158051 | SLC17A1 | c.812G>A (p.Ser271Asn) c.*63G>A (n.*63G>A) c.735+179G>A (n.735+179G>A) c.725G>A (p.Ser242Asn) c.599G>A (p.Ser200Asn) c.962G>A (p.Ser321Asn) c.875G>A (p.Ser292Asn) c.885+179G>A (n.885+179G>A) c.878G>A (p.Ser293Asn) | |
6 | g.25812917del | CA2677592041 | SLC17A1 | c.811del (p.Ser271ValfsTer11) c.*62del (n.*62del) c.735+178del (n.735+178del) c.724del (p.Ser242ValfsTer11) c.598del (p.Ser200ValfsTer11) c.961del (p.Ser321ValfsTer11) c.874del (p.Ser292ValfsTer11) c.885+178del (n.885+178del) c.877del (p.Ser293ValfsTer11) | gnomAD v4 |
6 | g.25812917T>A | CA363158053 | SLC17A1 | c.811A>T (p.Ser271Cys) c.*62A>T (n.*62A>T) c.735+178A>T (n.735+178A>T) c.724A>T (p.Ser242Cys) c.598A>T (p.Ser200Cys) c.961A>T (p.Ser321Cys) c.874A>T (p.Ser292Cys) c.885+178A>T (n.885+178A>T) c.877A>T (p.Ser293Cys) | dbSNP |
6 | g.25812917T>C | CA363158056 | SLC17A1 | c.811A>G (p.Ser271Gly) c.*62A>G (n.*62A>G) c.735+178A>G (n.735+178A>G) c.724A>G (p.Ser242Gly) c.598A>G (p.Ser200Gly) c.961A>G (p.Ser321Gly) c.874A>G (p.Ser292Gly) c.885+178A>G (n.885+178A>G) c.877A>G (p.Ser293Gly) | dbSNP |
6 | g.25812917T>G | CA363158055 | SLC17A1 | c.811A>C (p.Ser271Arg) c.*62A>C (n.*62A>C) c.735+178A>C (n.735+178A>C) c.724A>C (p.Ser242Arg) c.598A>C (p.Ser200Arg) c.961A>C (p.Ser321Arg) c.874A>C (p.Ser292Arg) c.885+178A>C (n.885+178A>C) c.877A>C (p.Ser293Arg) | gnomAD v4 |
6 | g.25812917T= | CA1616765627 | SLC17A1 | c.811A= (p.Ser271=) c.*62A= (n.*62A=) c.735+178A= (n.735+178A=) c.724A= (p.Ser242=) c.598A= (p.Ser200=) c.961A= (p.Ser321=) c.874A= (p.Ser292=) c.885+178A= (n.885+178A=) c.877A= (p.Ser293=) | |
6 | g.25812918A>C | CA448980360 | SLC17A1 | c.810T>G (p.Gly270=) c.*61T>G (n.*61T>G) c.735+177T>G (n.735+177T>G) c.723T>G (p.Gly241=) c.597T>G (p.Gly199=) c.960T>G (p.Gly320=) c.873T>G (p.Gly291=) c.885+177T>G (n.885+177T>G) c.876T>G (p.Gly292=) | |
6 | g.25812918A>G | CA448980361 | SLC17A1 | c.810T>C (p.Gly270=) c.*61T>C (n.*61T>C) c.735+177T>C (n.735+177T>C) c.723T>C (p.Gly241=) c.597T>C (p.Gly199=) c.960T>C (p.Gly320=) c.873T>C (p.Gly291=) c.885+177T>C (n.885+177T>C) c.876T>C (p.Gly292=) | |
6 | g.25812918A>T | CA448980362 | SLC17A1 | c.810T>A (p.Gly270=) c.*61T>A (n.*61T>A) c.735+177T>A (n.735+177T>A) c.723T>A (p.Gly241=) c.597T>A (p.Gly199=) c.960T>A (p.Gly320=) c.873T>A (p.Gly291=) c.885+177T>A (n.885+177T>A) c.876T>A (p.Gly292=) | |
6 | g.25812919C>A | CA363158058 | SLC17A1 | c.809G>T (p.Gly270Val) c.*60G>T (n.*60G>T) c.735+176G>T (n.735+176G>T) c.722G>T (p.Gly241Val) c.596G>T (p.Gly199Val) c.959G>T (p.Gly320Val) c.872G>T (p.Gly291Val) c.885+176G>T (n.885+176G>T) c.875G>T (p.Gly292Val) | gnomAD v4 |
6 | g.25812919C>G | CA363158062 | SLC17A1 | c.809G>C (p.Gly270Ala) c.*60G>C (n.*60G>C) c.735+176G>C (n.735+176G>C) c.722G>C (p.Gly241Ala) c.596G>C (p.Gly199Ala) c.959G>C (p.Gly320Ala) c.872G>C (p.Gly291Ala) c.885+176G>C (n.885+176G>C) c.875G>C (p.Gly292Ala) | |
6 | g.25812919C>T | CA363158060 | SLC17A1 | c.809G>A (p.Gly270Asp) c.*60G>A (n.*60G>A) c.735+176G>A (n.735+176G>A) c.722G>A (p.Gly241Asp) c.596G>A (p.Gly199Asp) c.959G>A (p.Gly320Asp) c.872G>A (p.Gly291Asp) c.885+176G>A (n.885+176G>A) c.875G>A (p.Gly292Asp) | |
6 | g.25812920C>A | CA363158063 | SLC17A1 | c.808G>T (p.Gly270Cys) c.*59G>T (n.*59G>T) c.735+175G>T (n.735+175G>T) c.721G>T (p.Gly241Cys) c.595G>T (p.Gly199Cys) c.958G>T (p.Gly320Cys) c.871G>T (p.Gly291Cys) c.885+175G>T (n.885+175G>T) c.874G>T (p.Gly292Cys) | |
6 | g.25812920C= | CA1616765628 | SLC17A1 | c.808G= (p.Gly270=) c.*59G= (n.*59G=) c.735+175G= (n.735+175G=) c.721G= (p.Gly241=) c.595G= (p.Gly199=) c.958G= (p.Gly320=) c.871G= (p.Gly291=) c.885+175G= (n.885+175G=) c.874G= (p.Gly292=) | |
6 | g.25812920C>G | CA363158065 | SLC17A1 | c.808G>C (p.Gly270Arg) c.*59G>C (n.*59G>C) c.735+175G>C (n.735+175G>C) c.721G>C (p.Gly241Arg) c.595G>C (p.Gly199Arg) c.958G>C (p.Gly320Arg) c.871G>C (p.Gly291Arg) c.885+175G>C (n.885+175G>C) c.874G>C (p.Gly292Arg) | |
6 | g.25812920C>T | CA3662594 | SLC17A1 | c.808G>A (p.Gly270Ser) c.*59G>A (n.*59G>A) c.735+175G>A (n.735+175G>A) c.721G>A (p.Gly241Ser) c.595G>A (p.Gly199Ser) c.958G>A (p.Gly320Ser) c.871G>A (p.Gly291Ser) c.885+175G>A (n.885+175G>A) c.874G>A (p.Gly292Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.25812921A= | CA1616765629 | SLC17A1 | c.807T= (p.Thr269=) c.*58T= (n.*58T=) c.735+174T= (n.735+174T=) c.720T= (p.Thr240=) c.594T= (p.Thr198=) c.957T= (p.Thr319=) c.870T= (p.Thr290=) c.885+174T= (n.885+174T=) c.873T= (p.Thr291=) | |
6 | g.25812921A>C | CA3662595 | SLC17A1 | c.807T>G (p.Thr269=) c.*58T>G (n.*58T>G) c.735+174T>G (n.735+174T>G) c.720T>G (p.Thr240=) c.594T>G (p.Thr198=) c.957T>G (p.Thr319=) c.870T>G (p.Thr290=) c.885+174T>G (n.885+174T>G) c.873T>G (p.Thr291=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.25812921A>G | CA448980363 | SLC17A1 | c.807T>C (p.Thr269=) c.*58T>C (n.*58T>C) c.735+174T>C (n.735+174T>C) c.720T>C (p.Thr240=) c.594T>C (p.Thr198=) c.957T>C (p.Thr319=) c.870T>C (p.Thr290=) c.885+174T>C (n.885+174T>C) c.873T>C (p.Thr291=) | |
6 | g.25812921A>T | CA448980364 | SLC17A1 | c.807T>A (p.Thr269=) c.*58T>A (n.*58T>A) c.735+174T>A (n.735+174T>A) c.720T>A (p.Thr240=) c.594T>A (p.Thr198=) c.957T>A (p.Thr319=) c.870T>A (p.Thr290=) c.885+174T>A (n.885+174T>A) c.873T>A (p.Thr291=) | |
6 | g.25812922G>A | CA3662596 | SLC17A1 | c.806C>T (p.Thr269Ile) c.*57C>T (n.*57C>T) c.735+173C>T (n.735+173C>T) c.719C>T (p.Thr240Ile) c.593C>T (p.Thr198Ile) c.956C>T (p.Thr319Ile) c.869C>T (p.Thr290Ile) c.885+173C>T (n.885+173C>T) c.872C>T (p.Thr291Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.25812922G>C | CA363158068 | SLC17A1 | c.806C>G (p.Thr269Ser) c.*57C>G (n.*57C>G) c.735+173C>G (n.735+173C>G) c.719C>G (p.Thr240Ser) c.593C>G (p.Thr198Ser) c.956C>G (p.Thr319Ser) c.869C>G (p.Thr290Ser) c.885+173C>G (n.885+173C>G) c.872C>G (p.Thr291Ser) | dbSNP |
6 | g.25812922G= | CA1616765630 | SLC17A1 | c.806C= (p.Thr269=) c.*57C= (n.*57C=) c.735+173C= (n.735+173C=) c.719C= (p.Thr240=) c.593C= (p.Thr198=) c.956C= (p.Thr319=) c.869C= (p.Thr290=) c.885+173C= (n.885+173C=) c.872C= (p.Thr291=) | |
6 | g.25812922G>T | CA363158069 | SLC17A1 | c.806C>A (p.Thr269Asn) c.*57C>A (n.*57C>A) c.735+173C>A (n.735+173C>A) c.719C>A (p.Thr240Asn) c.593C>A (p.Thr198Asn) c.956C>A (p.Thr319Asn) c.869C>A (p.Thr290Asn) c.885+173C>A (n.885+173C>A) c.872C>A (p.Thr291Asn) | |
6 | g.25812923T>A | CA363158070 | SLC17A1 | c.805A>T (p.Thr269Ser) c.*56A>T (n.*56A>T) c.735+172A>T (n.735+172A>T) c.718A>T (p.Thr240Ser) c.592A>T (p.Thr198Ser) c.955A>T (p.Thr319Ser) c.868A>T (p.Thr290Ser) c.885+172A>T (n.885+172A>T) c.871A>T (p.Thr291Ser) | |
6 | g.25812923T>C | CA363158071 | SLC17A1 | c.805A>G (p.Thr269Ala) c.*56A>G (n.*56A>G) c.735+172A>G (n.735+172A>G) c.718A>G (p.Thr240Ala) c.592A>G (p.Thr198Ala) c.955A>G (p.Thr319Ala) c.868A>G (p.Thr290Ala) c.885+172A>G (n.885+172A>G) c.871A>G (p.Thr291Ala) | gnomAD v4 COSMIC |
6 | g.25812923T>G | CA363158072 | SLC17A1 | c.805A>C (p.Thr269Pro) c.*56A>C (n.*56A>C) c.735+172A>C (n.735+172A>C) c.718A>C (p.Thr240Pro) c.592A>C (p.Thr198Pro) c.955A>C (p.Thr319Pro) c.868A>C (p.Thr290Pro) c.885+172A>C (n.885+172A>C) c.871A>C (p.Thr291Pro) | |
6 | g.25812924G>A | CA448980365 | SLC17A1 | c.804C>T (p.Ser268=) c.*55C>T (n.*55C>T) c.735+171C>T (n.735+171C>T) c.717C>T (p.Ser239=) c.591C>T (p.Ser197=) c.954C>T (p.Ser318=) c.867C>T (p.Ser289=) c.885+171C>T (n.885+171C>T) c.870C>T (p.Ser290=) | |
6 | g.25812924G>C | CA448980366 | SLC17A1 | c.804C>G (p.Ser268=) c.*55C>G (n.*55C>G) c.735+171C>G (n.735+171C>G) c.717C>G (p.Ser239=) c.591C>G (p.Ser197=) c.954C>G (p.Ser318=) c.867C>G (p.Ser289=) c.885+171C>G (n.885+171C>G) c.870C>G (p.Ser290=) | |
6 | g.25812924G>T | CA448980367 | SLC17A1 | c.804C>A (p.Ser268=) c.*55C>A (n.*55C>A) c.735+171C>A (n.735+171C>A) c.717C>A (p.Ser239=) c.591C>A (p.Ser197=) c.954C>A (p.Ser318=) c.867C>A (p.Ser289=) c.885+171C>A (n.885+171C>A) c.870C>A (p.Ser290=) | |
6 | g.25812925G>A | CA363158073 | SLC17A1 | c.803C>T (p.Ser268Phe) c.*54C>T (n.*54C>T) c.735+170C>T (n.735+170C>T) c.716C>T (p.Ser239Phe) c.590C>T (p.Ser197Phe) c.953C>T (p.Ser318Phe) c.866C>T (p.Ser289Phe) c.885+170C>T (n.885+170C>T) c.869C>T (p.Ser290Phe) | COSMIC |
6 | g.25812925G>C | CA363158074 | SLC17A1 | c.803C>G (p.Ser268Cys) c.*54C>G (n.*54C>G) c.735+170C>G (n.735+170C>G) c.716C>G (p.Ser239Cys) c.590C>G (p.Ser197Cys) c.953C>G (p.Ser318Cys) c.866C>G (p.Ser289Cys) c.885+170C>G (n.885+170C>G) c.869C>G (p.Ser290Cys) | |
6 | g.25812925G>T | CA363158075 | SLC17A1 | c.803C>A (p.Ser268Tyr) c.*54C>A (n.*54C>A) c.735+170C>A (n.735+170C>A) c.716C>A (p.Ser239Tyr) c.590C>A (p.Ser197Tyr) c.953C>A (p.Ser318Tyr) c.866C>A (p.Ser289Tyr) c.885+170C>A (n.885+170C>A) c.869C>A (p.Ser290Tyr) | gnomAD v4 |
6 | g.25812926A= | CA1616765631 | SLC17A1 | c.802T= (p.Ser268=) c.*53T= (n.*53T=) c.735+169T= (n.735+169T=) c.715T= (p.Ser239=) c.589T= (p.Ser197=) c.952T= (p.Ser318=) c.865T= (p.Ser289=) c.885+169T= (n.885+169T=) c.868T= (p.Ser290=) | |
6 | g.25812926A>C | CA3662597 | SLC17A1 | c.802T>G (p.Ser268Ala) c.*53T>G (n.*53T>G) c.735+169T>G (n.735+169T>G) c.715T>G (p.Ser239Ala) c.589T>G (p.Ser197Ala) c.952T>G (p.Ser318Ala) c.865T>G (p.Ser289Ala) c.885+169T>G (n.885+169T>G) c.868T>G (p.Ser290Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.25812926A>G | CA363158077 | SLC17A1 | c.802T>C (p.Ser268Pro) c.*53T>C (n.*53T>C) c.735+169T>C (n.735+169T>C) c.715T>C (p.Ser239Pro) c.589T>C (p.Ser197Pro) c.952T>C (p.Ser318Pro) c.865T>C (p.Ser289Pro) c.885+169T>C (n.885+169T>C) c.868T>C (p.Ser290Pro) | gnomAD v4 |
6 | g.25812926A>T | CA363158076 | SLC17A1 | c.802T>A (p.Ser268Thr) c.*53T>A (n.*53T>A) c.735+169T>A (n.735+169T>A) c.715T>A (p.Ser239Thr) c.589T>A (p.Ser197Thr) c.952T>A (p.Ser318Thr) c.865T>A (p.Ser289Thr) c.885+169T>A (n.885+169T>A) c.868T>A (p.Ser290Thr) | |
6 | g.25812927A>C | CA363158078 | SLC17A1 | c.801T>G (p.Ile267Met) c.*52T>G (n.*52T>G) c.735+168T>G (n.735+168T>G) c.714T>G (p.Ile238Met) c.588T>G (p.Ile196Met) c.951T>G (p.Ile317Met) c.864T>G (p.Ile288Met) c.885+168T>G (n.885+168T>G) c.867T>G (p.Ile289Met) | |
6 | g.25812927A>G | CA448980368 | SLC17A1 | c.801T>C (p.Ile267=) c.*52T>C (n.*52T>C) c.735+168T>C (n.735+168T>C) c.714T>C (p.Ile238=) c.588T>C (p.Ile196=) c.951T>C (p.Ile317=) c.864T>C (p.Ile288=) c.885+168T>C (n.885+168T>C) c.867T>C (p.Ile289=) | |
6 | g.25812927A>T | CA448980369 | SLC17A1 | c.801T>A (p.Ile267=) c.*52T>A (n.*52T>A) c.735+168T>A (n.735+168T>A) c.714T>A (p.Ile238=) c.588T>A (p.Ile196=) c.951T>A (p.Ile317=) c.864T>A (p.Ile288=) c.885+168T>A (n.885+168T>A) c.867T>A (p.Ile289=) | |
6 | g.25812928A= | CA1616765632 | SLC17A1 | c.800T= (p.Ile267=) c.*51T= (n.*51T=) c.735+167T= (n.735+167T=) c.713T= (p.Ile238=) c.587T= (p.Ile196=) c.950T= (p.Ile317=) c.863T= (p.Ile288=) c.885+167T= (n.885+167T=) c.866T= (p.Ile289=) | |
6 | g.25812928A>C | CA363158079 | SLC17A1 | c.800T>G (p.Ile267Ser) c.*51T>G (n.*51T>G) c.735+167T>G (n.735+167T>G) c.713T>G (p.Ile238Ser) c.587T>G (p.Ile196Ser) c.950T>G (p.Ile317Ser) c.863T>G (p.Ile288Ser) c.885+167T>G (n.885+167T>G) c.866T>G (p.Ile289Ser) | |
6 | g.25812928A>G | CA363158080 | SLC17A1 | c.800T>C (p.Ile267Thr) c.*51T>C (n.*51T>C) c.735+167T>C (n.735+167T>C) c.713T>C (p.Ile238Thr) c.587T>C (p.Ile196Thr) c.950T>C (p.Ile317Thr) c.863T>C (p.Ile288Thr) c.885+167T>C (n.885+167T>C) c.866T>C (p.Ile289Thr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.25812928A>T | CA363158081 | SLC17A1 | c.800T>A (p.Ile267Asn) c.*51T>A (n.*51T>A) c.735+167T>A (n.735+167T>A) c.713T>A (p.Ile238Asn) c.587T>A (p.Ile196Asn) c.950T>A (p.Ile317Asn) c.863T>A (p.Ile288Asn) c.885+167T>A (n.885+167T>A) c.866T>A (p.Ile289Asn) | |
6 | g.25812929T>A | CA363158082 | SLC17A1 | c.799A>T (p.Ile267Phe) c.*50A>T (n.*50A>T) c.735+166A>T (n.735+166A>T) c.712A>T (p.Ile238Phe) c.586A>T (p.Ile196Phe) c.949A>T (p.Ile317Phe) c.862A>T (p.Ile288Phe) c.885+166A>T (n.885+166A>T) c.865A>T (p.Ile289Phe) | |
6 | g.25812929T>C | CA363158083 | SLC17A1 | c.799A>G (p.Ile267Val) c.*50A>G (n.*50A>G) c.735+166A>G (n.735+166A>G) c.712A>G (p.Ile238Val) c.586A>G (p.Ile196Val) c.949A>G (p.Ile317Val) c.862A>G (p.Ile288Val) c.885+166A>G (n.885+166A>G) c.865A>G (p.Ile289Val) | gnomAD v4 |
6 | g.25812929T>G | CA363158084 | SLC17A1 | c.799A>C (p.Ile267Leu) c.*50A>C (n.*50A>C) c.735+166A>C (n.735+166A>C) c.712A>C (p.Ile238Leu) c.586A>C (p.Ile196Leu) c.949A>C (p.Ile317Leu) c.862A>C (p.Ile288Leu) c.885+166A>C (n.885+166A>C) c.865A>C (p.Ile289Leu) | |
6 | g.25812930A= | CA1616765633 | SLC17A1 | c.798T= (p.Ala266=) c.*49T= (n.*49T=) c.735+165T= (n.735+165T=) c.711T= (p.Ala237=) c.585T= (p.Ala195=) c.948T= (p.Ala316=) c.861T= (p.Ala287=) c.885+165T= (n.885+165T=) c.864T= (p.Ala288=) | |
6 | g.25812930A>C | CA448980370 | SLC17A1 | c.798T>G (p.Ala266=) c.*49T>G (n.*49T>G) c.735+165T>G (n.735+165T>G) c.711T>G (p.Ala237=) c.585T>G (p.Ala195=) c.948T>G (p.Ala316=) c.861T>G (p.Ala287=) c.885+165T>G (n.885+165T>G) c.864T>G (p.Ala288=) | |
6 | g.25812930A>G | CA3662598 | SLC17A1 | c.798T>C (p.Ala266=) c.*49T>C (n.*49T>C) c.735+165T>C (n.735+165T>C) c.711T>C (p.Ala237=) c.585T>C (p.Ala195=) c.948T>C (p.Ala316=) c.861T>C (p.Ala287=) c.885+165T>C (n.885+165T>C) c.864T>C (p.Ala288=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.25812930A>T | CA448980371 | SLC17A1 | c.798T>A (p.Ala266=) c.*49T>A (n.*49T>A) c.735+165T>A (n.735+165T>A) c.711T>A (p.Ala237=) c.585T>A (p.Ala195=) c.948T>A (p.Ala316=) c.861T>A (p.Ala287=) c.885+165T>A (n.885+165T>A) c.864T>A (p.Ala288=) | |
6 | g.25812931G>A | CA363158085 | SLC17A1 | c.797C>T (p.Ala266Val) c.*48C>T (n.*48C>T) c.735+164C>T (n.735+164C>T) c.710C>T (p.Ala237Val) c.584C>T (p.Ala195Val) c.947C>T (p.Ala316Val) c.860C>T (p.Ala287Val) c.885+164C>T (n.885+164C>T) c.863C>T (p.Ala288Val) | |
6 | g.25812931G>C | CA363158086 | SLC17A1 | c.797C>G (p.Ala266Gly) c.*48C>G (n.*48C>G) c.735+164C>G (n.735+164C>G) c.710C>G (p.Ala237Gly) c.584C>G (p.Ala195Gly) c.947C>G (p.Ala316Gly) c.860C>G (p.Ala287Gly) c.885+164C>G (n.885+164C>G) c.863C>G (p.Ala288Gly) | |
6 | g.25812931G>T | CA363158087 | SLC17A1 | c.797C>A (p.Ala266Asp) c.*48C>A (n.*48C>A) c.735+164C>A (n.735+164C>A) c.710C>A (p.Ala237Asp) c.584C>A (p.Ala195Asp) c.947C>A (p.Ala316Asp) c.860C>A (p.Ala287Asp) c.885+164C>A (n.885+164C>A) c.863C>A (p.Ala288Asp) | COSMIC |
6 | g.25812932C>A | CA363158089 | SLC17A1 | c.796G>T (p.Ala266Ser) c.*47G>T (n.*47G>T) c.735+163G>T (n.735+163G>T) c.709G>T (p.Ala237Ser) c.583G>T (p.Ala195Ser) c.946G>T (p.Ala316Ser) c.859G>T (p.Ala287Ser) c.885+163G>T (n.885+163G>T) c.862G>T (p.Ala288Ser) | |
6 | g.25812932C= | CA1616765634 | SLC17A1 | c.796G= (p.Ala266=) c.*47G= (n.*47G=) c.735+163G= (n.735+163G=) c.709G= (p.Ala237=) c.583G= (p.Ala195=) c.946G= (p.Ala316=) c.859G= (p.Ala287=) c.885+163G= (n.885+163G=) c.862G= (p.Ala288=) | |
6 | g.25812932C>G | CA363158090 | SLC17A1 | c.796G>C (p.Ala266Pro) c.*47G>C (n.*47G>C) c.735+163G>C (n.735+163G>C) c.709G>C (p.Ala237Pro) c.583G>C (p.Ala195Pro) c.946G>C (p.Ala316Pro) c.859G>C (p.Ala287Pro) c.885+163G>C (n.885+163G>C) c.862G>C (p.Ala288Pro) | |
6 | g.25812932C>T | CA363158088 | SLC17A1 | c.796G>A (p.Ala266Thr) c.*47G>A (n.*47G>A) c.735+163G>A (n.735+163G>A) c.709G>A (p.Ala237Thr) c.583G>A (p.Ala195Thr) c.946G>A (p.Ala316Thr) c.859G>A (p.Ala287Thr) c.885+163G>A (n.885+163G>A) c.862G>A (p.Ala288Thr) | dbSNP |
6 | g.25812933C>A | CA363158091 | SLC17A1 | c.795G>T (p.Trp265Cys) c.*46G>T (n.*46G>T) c.735+162G>T (n.735+162G>T) c.708G>T (p.Trp236Cys) c.582G>T (p.Trp194Cys) c.945G>T (p.Trp315Cys) c.858G>T (p.Trp286Cys) c.885+162G>T (n.885+162G>T) c.861G>T (p.Trp287Cys) | |
6 | g.25812933C>G | CA363158092 | SLC17A1 | c.795G>C (p.Trp265Cys) c.*46G>C (n.*46G>C) c.735+162G>C (n.735+162G>C) c.708G>C (p.Trp236Cys) c.582G>C (p.Trp194Cys) c.945G>C (p.Trp315Cys) c.858G>C (p.Trp286Cys) c.885+162G>C (n.885+162G>C) c.861G>C (p.Trp287Cys) | |
6 | g.25812933C>T | CA363158093 | SLC17A1 | c.795G>A (p.Trp265Ter) c.*46G>A (n.*46G>A) c.735+162G>A (n.735+162G>A) c.708G>A (p.Trp236Ter) c.582G>A (p.Trp194Ter) c.945G>A (p.Trp315Ter) c.858G>A (p.Trp286Ter) c.885+162G>A (n.885+162G>A) c.861G>A (p.Trp287Ter) | |
6 | g.25812934C>A | CA363158094 | SLC17A1 | c.794G>T (p.Trp265Leu) c.*45G>T (n.*45G>T) c.735+161G>T (n.735+161G>T) c.707G>T (p.Trp236Leu) c.581G>T (p.Trp194Leu) c.944G>T (p.Trp315Leu) c.857G>T (p.Trp286Leu) c.885+161G>T (n.885+161G>T) c.860G>T (p.Trp287Leu) | |
6 | g.25812934C>G | CA363158095 | SLC17A1 | c.794G>C (p.Trp265Ser) c.*45G>C (n.*45G>C) c.735+161G>C (n.735+161G>C) c.707G>C (p.Trp236Ser) c.581G>C (p.Trp194Ser) c.944G>C (p.Trp315Ser) c.857G>C (p.Trp286Ser) c.885+161G>C (n.885+161G>C) c.860G>C (p.Trp287Ser) | |
6 | g.25812934C>T | CA363158096 | SLC17A1 | c.794G>A (p.Trp265Ter) c.*45G>A (n.*45G>A) c.735+161G>A (n.735+161G>A) c.707G>A (p.Trp236Ter) c.581G>A (p.Trp194Ter) c.944G>A (p.Trp315Ter) c.857G>A (p.Trp286Ter) c.885+161G>A (n.885+161G>A) c.860G>A (p.Trp287Ter) | |
6 | g.25812935A>C | CA363158097 | SLC17A1 | c.793T>G (p.Trp265Gly) c.*44T>G (n.*44T>G) c.735+160T>G (n.735+160T>G) c.706T>G (p.Trp236Gly) c.580T>G (p.Trp194Gly) c.943T>G (p.Trp315Gly) c.856T>G (p.Trp286Gly) c.885+160T>G (n.885+160T>G) c.859T>G (p.Trp287Gly) | |
6 | g.25812935A>G | CA363158098 | SLC17A1 | c.793T>C (p.Trp265Arg) c.*44T>C (n.*44T>C) c.735+160T>C (n.735+160T>C) c.706T>C (p.Trp236Arg) c.580T>C (p.Trp194Arg) c.943T>C (p.Trp315Arg) c.856T>C (p.Trp286Arg) c.885+160T>C (n.885+160T>C) c.859T>C (p.Trp287Arg) | dbSNP gnomAD v4 |
6 | g.25812935A>T | CA363158099 | SLC17A1 | c.793T>A (p.Trp265Arg) c.*44T>A (n.*44T>A) c.735+160T>A (n.735+160T>A) c.706T>A (p.Trp236Arg) c.580T>A (p.Trp194Arg) c.943T>A (p.Trp315Arg) c.856T>A (p.Trp286Arg) c.885+160T>A (n.885+160T>A) c.859T>A (p.Trp287Arg) | |
6 | g.25812935_25812945delinsAGACTGGAAGC | CA1616765635 | SLC17A1 | c.783_793delinsGCTTCCAGTCT (p.Ser261=) c.*34_*44delinsGCTTCCAGTCT (n.*34_*44delinsGCTTCCAGTCT) c.735+150_735+160delinsGCTTCCAGTCT (n.735+150_735+160delinsGCTTCCAGTCT) c.696_706delinsGCTTCCAGTCT (p.Ser232=) c.570_580delinsGCTTCCAGTCT (p.Ser190=) c.933_943delinsGCTTCCAGTCT (p.Ser311=) c.846_856delinsGCTTCCAGTCT (p.Ser282=) c.885+150_885+160delinsGCTTCCAGTCT (n.885+150_885+160delinsGCTTCCAGTCT) c.849_859delinsGCTTCCAGTCT (p.Ser283=) | |
6 | g.25812936G>A | CA448980372 | SLC17A1 | c.792C>T (p.Val264=) c.*43C>T (n.*43C>T) c.735+159C>T (n.735+159C>T) c.705C>T (p.Val235=) c.579C>T (p.Val193=) c.942C>T (p.Val314=) c.855C>T (p.Val285=) c.885+159C>T (n.885+159C>T) c.858C>T (p.Val286=) | |
6 | g.25812936G>C | CA448980373 | SLC17A1 | c.792C>G (p.Val264=) c.*43C>G (n.*43C>G) c.735+159C>G (n.735+159C>G) c.705C>G (p.Val235=) c.579C>G (p.Val193=) c.942C>G (p.Val314=) c.855C>G (p.Val285=) c.885+159C>G (n.885+159C>G) c.858C>G (p.Val286=) | |
6 | g.25812936G>T | CA448980374 | SLC17A1 | c.792C>A (p.Val264=) c.*43C>A (n.*43C>A) c.735+159C>A (n.735+159C>A) c.705C>A (p.Val235=) c.579C>A (p.Val193=) c.942C>A (p.Val314=) c.855C>A (p.Val285=) c.885+159C>A (n.885+159C>A) c.858C>A (p.Val286=) | |
6 | g.25812940_25812949del | CA1087048872 | SLC17A1 | c.783_792del (p.Leu262GlyfsTer17) c.*34_*43del (n.*34_*43del) c.735+150_735+159del (n.735+150_735+159del) c.696_705del (p.Leu233GlyfsTer17) c.570_579del (p.Leu191GlyfsTer17) c.933_942del (p.Leu312GlyfsTer17) c.846_855del (p.Leu283GlyfsTer17) c.885+150_885+159del (n.885+150_885+159del) c.849_858del (p.Leu284GlyfsTer17) | dbSNP |
6 | g.25812937A>C | CA363158100 | SLC17A1 | c.791T>G (p.Val264Gly) c.*42T>G (n.*42T>G) c.735+158T>G (n.735+158T>G) c.704T>G (p.Val235Gly) c.578T>G (p.Val193Gly) c.941T>G (p.Val314Gly) c.854T>G (p.Val285Gly) c.885+158T>G (n.885+158T>G) c.857T>G (p.Val286Gly) | |
6 | g.25812937A>G | CA363158101 | SLC17A1 | c.791T>C (p.Val264Ala) c.*42T>C (n.*42T>C) c.735+158T>C (n.735+158T>C) c.704T>C (p.Val235Ala) c.578T>C (p.Val193Ala) c.941T>C (p.Val314Ala) c.854T>C (p.Val285Ala) c.885+158T>C (n.885+158T>C) c.857T>C (p.Val286Ala) | |
6 | g.25812937A>T | CA363158102 | SLC17A1 | c.791T>A (p.Val264Asp) c.*42T>A (n.*42T>A) c.735+158T>A (n.735+158T>A) c.704T>A (p.Val235Asp) c.578T>A (p.Val193Asp) c.941T>A (p.Val314Asp) c.854T>A (p.Val285Asp) c.885+158T>A (n.885+158T>A) c.857T>A (p.Val286Asp) | |
6 | g.25812938C>A | CA363158103 | SLC17A1 | c.790G>T (p.Val264Phe) c.*41G>T (n.*41G>T) c.735+157G>T (n.735+157G>T) c.703G>T (p.Val235Phe) c.577G>T (p.Val193Phe) c.940G>T (p.Val314Phe) c.853G>T (p.Val285Phe) c.885+157G>T (n.885+157G>T) c.856G>T (p.Val286Phe) | |
6 | g.25812938C= | CA1616765636 | SLC17A1 | c.790G= (p.Val264=) c.*41G= (n.*41G=) c.735+157G= (n.735+157G=) c.703G= (p.Val235=) c.577G= (p.Val193=) c.940G= (p.Val314=) c.853G= (p.Val285=) c.885+157G= (n.885+157G=) c.856G= (p.Val286=) | |
6 | g.25812938C>G | CA363158104 | SLC17A1 | c.790G>C (p.Val264Leu) c.*41G>C (n.*41G>C) c.735+157G>C (n.735+157G>C) c.703G>C (p.Val235Leu) c.577G>C (p.Val193Leu) c.940G>C (p.Val314Leu) c.853G>C (p.Val285Leu) c.885+157G>C (n.885+157G>C) c.856G>C (p.Val286Leu) | |
6 | g.25812938C>T | CA136229889 | SLC17A1 | c.790G>A (p.Val264Ile) c.*41G>A (n.*41G>A) c.735+157G>A (n.735+157G>A) c.703G>A (p.Val235Ile) c.577G>A (p.Val193Ile) c.940G>A (p.Val314Ile) c.853G>A (p.Val285Ile) c.885+157G>A (n.885+157G>A) c.856G>A (p.Val286Ile) | dbSNP |
6 | g.25812939T>A | CA448980375 | SLC17A1 | c.789A>T (p.Pro263=) c.*40A>T (n.*40A>T) c.735+156A>T (n.735+156A>T) c.702A>T (p.Pro234=) c.576A>T (p.Pro192=) c.939A>T (p.Pro313=) c.852A>T (p.Pro284=) c.885+156A>T (n.885+156A>T) c.855A>T (p.Pro285=) | COSMIC |
6 | g.25812939T>C | CA448980377 | SLC17A1 | c.789A>G (p.Pro263=) c.*40A>G (n.*40A>G) c.735+156A>G (n.735+156A>G) c.702A>G (p.Pro234=) c.576A>G (p.Pro192=) c.939A>G (p.Pro313=) c.852A>G (p.Pro284=) c.885+156A>G (n.885+156A>G) c.855A>G (p.Pro285=) | |
6 | g.25812939T>G | CA448980376 | SLC17A1 | c.789A>C (p.Pro263=) c.*40A>C (n.*40A>C) c.735+156A>C (n.735+156A>C) c.702A>C (p.Pro234=) c.576A>C (p.Pro192=) c.939A>C (p.Pro313=) c.852A>C (p.Pro284=) c.885+156A>C (n.885+156A>C) c.855A>C (p.Pro285=) | |
6 | g.25812940G>A | CA363158105 | SLC17A1 | c.788C>T (p.Pro263Leu) c.*39C>T (n.*39C>T) c.735+155C>T (n.735+155C>T) c.701C>T (p.Pro234Leu) c.575C>T (p.Pro192Leu) c.938C>T (p.Pro313Leu) c.851C>T (p.Pro284Leu) c.885+155C>T (n.885+155C>T) c.854C>T (p.Pro285Leu) | gnomAD v4 |
6 | g.25812940G>C | CA363158106 | SLC17A1 | c.788C>G (p.Pro263Arg) c.*39C>G (n.*39C>G) c.735+155C>G (n.735+155C>G) c.701C>G (p.Pro234Arg) c.575C>G (p.Pro192Arg) c.938C>G (p.Pro313Arg) c.851C>G (p.Pro284Arg) c.885+155C>G (n.885+155C>G) c.854C>G (p.Pro285Arg) | |
6 | g.25812940G>T | CA363158108 | SLC17A1 | c.788C>A (p.Pro263Gln) c.*39C>A (n.*39C>A) c.735+155C>A (n.735+155C>A) c.701C>A (p.Pro234Gln) c.575C>A (p.Pro192Gln) c.938C>A (p.Pro313Gln) c.851C>A (p.Pro284Gln) c.885+155C>A (n.885+155C>A) c.854C>A (p.Pro285Gln) | |
6 | g.25812940_25812944del | CA2677592042 | SLC17A1 | c.784_788del (p.Leu262SerfsTer8) c.*35_*39del (n.*35_*39del) c.735+151_735+155del (n.735+151_735+155del) c.697_701del (p.Leu233SerfsTer8) c.571_575del (p.Leu191SerfsTer8) c.934_938del (p.Leu312SerfsTer8) c.847_851del (p.Leu283SerfsTer8) c.885+151_885+155del (n.885+151_885+155del) c.850_854del (p.Leu284SerfsTer8) | gnomAD v4 |
6 | g.25812941G>A | CA363158110 | SLC17A1 | c.787C>T (p.Pro263Ser) c.*38C>T (n.*38C>T) c.735+154C>T (n.735+154C>T) c.700C>T (p.Pro234Ser) c.574C>T (p.Pro192Ser) c.937C>T (p.Pro313Ser) c.850C>T (p.Pro284Ser) c.885+154C>T (n.885+154C>T) c.853C>T (p.Pro285Ser) | |
6 | g.25812941G>C | CA363158112 | SLC17A1 | c.787C>G (p.Pro263Ala) c.*38C>G (n.*38C>G) c.735+154C>G (n.735+154C>G) c.700C>G (p.Pro234Ala) c.574C>G (p.Pro192Ala) c.937C>G (p.Pro313Ala) c.850C>G (p.Pro284Ala) c.885+154C>G (n.885+154C>G) c.853C>G (p.Pro285Ala) | |
6 | g.25812941G>T | CA363158113 | SLC17A1 | c.787C>A (p.Pro263Thr) c.*38C>A (n.*38C>A) c.735+154C>A (n.735+154C>A) c.700C>A (p.Pro234Thr) c.574C>A (p.Pro192Thr) c.937C>A (p.Pro313Thr) c.850C>A (p.Pro284Thr) c.885+154C>A (n.885+154C>A) c.853C>A (p.Pro285Thr) | |
6 | g.25812942A>C | CA448980378 | SLC17A1 | c.786T>G (p.Leu262=) c.*37T>G (n.*37T>G) c.735+153T>G (n.735+153T>G) c.699T>G (p.Leu233=) c.573T>G (p.Leu191=) c.936T>G (p.Leu312=) c.849T>G (p.Leu283=) c.885+153T>G (n.885+153T>G) c.852T>G (p.Leu284=) | |
6 | g.25812942A>G | CA448980379 | SLC17A1 | c.786T>C (p.Leu262=) c.*37T>C (n.*37T>C) c.735+153T>C (n.735+153T>C) c.699T>C (p.Leu233=) c.573T>C (p.Leu191=) c.936T>C (p.Leu312=) c.849T>C (p.Leu283=) c.885+153T>C (n.885+153T>C) c.852T>C (p.Leu284=) | |
6 | g.25812942A>T | CA448980380 | SLC17A1 | c.786T>A (p.Leu262=) c.*37T>A (n.*37T>A) c.735+153T>A (n.735+153T>A) c.699T>A (p.Leu233=) c.573T>A (p.Leu191=) c.936T>A (p.Leu312=) c.849T>A (p.Leu283=) c.885+153T>A (n.885+153T>A) c.852T>A (p.Leu284=) | |
6 | g.25812943A>C | CA363158115 | SLC17A1 | c.785T>G (p.Leu262Arg) c.*36T>G (n.*36T>G) c.735+152T>G (n.735+152T>G) c.698T>G (p.Leu233Arg) c.572T>G (p.Leu191Arg) c.935T>G (p.Leu312Arg) c.848T>G (p.Leu283Arg) c.885+152T>G (n.885+152T>G) c.851T>G (p.Leu284Arg) | |
6 | g.25812943A>G | CA363158119 | SLC17A1 | c.785T>C (p.Leu262Pro) c.*36T>C (n.*36T>C) c.735+152T>C (n.735+152T>C) c.698T>C (p.Leu233Pro) c.572T>C (p.Leu191Pro) c.935T>C (p.Leu312Pro) c.848T>C (p.Leu283Pro) c.885+152T>C (n.885+152T>C) c.851T>C (p.Leu284Pro) | gnomAD v4 |
6 | g.25812943A>T | CA363158117 | SLC17A1 | c.785T>A (p.Leu262His) c.*36T>A (n.*36T>A) c.735+152T>A (n.735+152T>A) c.698T>A (p.Leu233His) c.572T>A (p.Leu191His) c.935T>A (p.Leu312His) c.848T>A (p.Leu283His) c.885+152T>A (n.885+152T>A) c.851T>A (p.Leu284His) | |
6 | g.25812944G>A | CA3662599 | SLC17A1 | c.784C>T (p.Leu262Phe) c.*35C>T (n.*35C>T) c.735+151C>T (n.735+151C>T) c.697C>T (p.Leu233Phe) c.571C>T (p.Leu191Phe) c.934C>T (p.Leu312Phe) c.847C>T (p.Leu283Phe) c.885+151C>T (n.885+151C>T) c.850C>T (p.Leu284Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.25812944G>C | CA363158121 | SLC17A1 | c.784C>G (p.Leu262Val) c.*35C>G (n.*35C>G) c.735+151C>G (n.735+151C>G) c.697C>G (p.Leu233Val) c.571C>G (p.Leu191Val) c.934C>G (p.Leu312Val) c.847C>G (p.Leu283Val) c.885+151C>G (n.885+151C>G) c.850C>G (p.Leu284Val) | |
6 | g.25812944G= | CA1616765637 | SLC17A1 | c.784C= (p.Leu262=) c.*35C= (n.*35C=) c.735+151C= (n.735+151C=) c.697C= (p.Leu233=) c.571C= (p.Leu191=) c.934C= (p.Leu312=) c.847C= (p.Leu283=) c.885+151C= (n.885+151C=) c.850C= (p.Leu284=) | |
6 | g.25812944G>T | CA363158123 | SLC17A1 | c.784C>A (p.Leu262Ile) c.*35C>A (n.*35C>A) c.735+151C>A (n.735+151C>A) c.697C>A (p.Leu233Ile) c.571C>A (p.Leu191Ile) c.934C>A (p.Leu312Ile) c.847C>A (p.Leu283Ile) c.885+151C>A (n.885+151C>A) c.850C>A (p.Leu284Ile) |