Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.73644504A>C | CA364719088 | SLC17A5 | c.194T>G (p.Val65Gly) c.143T>G (p.Val48Gly) c.-5T>G (n.-5T>G) c.61-2580T>G (n.61-2580T>G) c.215T>G (p.Val72Gly) | |
6 | g.73644504A>G | CA364719089 | SLC17A5 | c.194T>C (p.Val65Ala) c.143T>C (p.Val48Ala) c.-5T>C (n.-5T>C) c.61-2580T>C (n.61-2580T>C) c.215T>C (p.Val72Ala) | |
6 | g.73644504A>T | CA364719092 | SLC17A5 | c.194T>A (p.Val65Glu) c.143T>A (p.Val48Glu) c.-5T>A (n.-5T>A) c.61-2580T>A (n.61-2580T>A) c.215T>A (p.Val72Glu) | |
6 | g.73644505C>A | CA364719095 | SLC17A5 | c.193G>T (p.Val65Leu) c.142G>T (p.Val48Leu) c.-6G>T (n.-6G>T) c.61-2581G>T (n.61-2581G>T) c.214G>T (p.Val72Leu) | |
6 | g.73644505C>G | CA364719096 | SLC17A5 | c.193G>C (p.Val65Leu) c.142G>C (p.Val48Leu) c.-6G>C (n.-6G>C) c.61-2581G>C (n.61-2581G>C) c.214G>C (p.Val72Leu) | |
6 | g.73644505C>T | CA364719099 | SLC17A5 | c.193G>A (p.Val65Met) c.142G>A (p.Val48Met) c.-6G>A (n.-6G>A) c.61-2581G>A (n.61-2581G>A) c.214G>A (p.Val72Met) | |
6 | g.73644506T>A | CA364719102 | SLC17A5 | c.192A>T (p.Leu64Phe) c.141A>T (p.Leu47Phe) c.-7A>T (n.-7A>T) c.61-2582A>T (n.61-2582A>T) c.213A>T (p.Leu71Phe) | |
6 | g.73644506T>C | CA450912385 | SLC17A5 | c.192A>G (p.Leu64=) c.141A>G (p.Leu47=) c.-7A>G (n.-7A>G) c.61-2582A>G (n.61-2582A>G) c.213A>G (p.Leu71=) | ClinVar gnomAD v4 |
6 | g.73644506T>G | CA364719103 | SLC17A5 | c.192A>C (p.Leu64Phe) c.141A>C (p.Leu47Phe) c.-7A>C (n.-7A>C) c.61-2582A>C (n.61-2582A>C) c.213A>C (p.Leu71Phe) | gnomAD v4 |
6 | g.73644507A>C | CA364719106 | SLC17A5 | c.191T>G (p.Leu64Ter) c.140T>G (p.Leu47Ter) c.-8T>G (n.-8T>G) c.61-2583T>G (n.61-2583T>G) c.212T>G (p.Leu71Ter) | |
6 | g.73644507A>G | CA364719108 | SLC17A5 | c.191T>C (p.Leu64Ser) c.140T>C (p.Leu47Ser) c.-8T>C (n.-8T>C) c.61-2583T>C (n.61-2583T>C) c.212T>C (p.Leu71Ser) | |
6 | g.73644507A>T | CA364719109 | SLC17A5 | c.191T>A (p.Leu64Ter) c.140T>A (p.Leu47Ter) c.-8T>A (n.-8T>A) c.61-2583T>A (n.61-2583T>A) c.212T>A (p.Leu71Ter) | |
6 | g.73644508A= | CA1638225573 | SLC17A5 | c.190T= (p.Leu64=) c.139T= (p.Leu47=) c.-9T= (n.-9T=) c.61-2584T= (n.61-2584T=) c.211T= (p.Leu71=) | |
6 | g.73644508A>C | CA3890593 | SLC17A5 | c.190T>G (p.Leu64Val) c.139T>G (p.Leu47Val) c.-9T>G (n.-9T>G) c.61-2584T>G (n.61-2584T>G) c.211T>G (p.Leu71Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73644508A>G | CA450912386 | SLC17A5 | c.190T>C (p.Leu64=) c.139T>C (p.Leu47=) c.-9T>C (n.-9T>C) c.61-2584T>C (n.61-2584T>C) c.211T>C (p.Leu71=) | |
6 | g.73644508A>T | CA364719114 | SLC17A5 | c.190T>A (p.Leu64Ile) c.139T>A (p.Leu47Ile) c.-9T>A (n.-9T>A) c.61-2584T>A (n.61-2584T>A) c.211T>A (p.Leu71Ile) | |
6 | g.73644509C>A | CA450912387 | SLC17A5 | c.189G>T (p.Ala63=) c.138G>T (p.Ala46=) c.-10G>T (n.-10G>T) c.61-2585G>T (n.61-2585G>T) c.210G>T (p.Ala70=) | gnomAD v4 |
6 | g.73644509C= | CA1638225575 | SLC17A5 | c.189G= (p.Ala63=) c.138G= (p.Ala46=) c.-10G= (n.-10G=) c.61-2585G= (n.61-2585G=) c.210G= (p.Ala70=) | |
6 | g.73644509C>G | CA450912388 | SLC17A5 | c.189G>C (p.Ala63=) c.138G>C (p.Ala46=) c.-10G>C (n.-10G>C) c.61-2585G>C (n.61-2585G>C) c.210G>C (p.Ala70=) | |
6 | g.73644509C>T | CA140978010 | SLC17A5 | c.189G>A (p.Ala63=) c.138G>A (p.Ala46=) c.-10G>A (n.-10G>A) c.61-2585G>A (n.61-2585G>A) c.210G>A (p.Ala70=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73644510G>A | CA364719117 | SLC17A5 | c.188C>T (p.Ala63Val) c.137C>T (p.Ala46Val) c.-11C>T (n.-11C>T) c.61-2586C>T (n.61-2586C>T) c.209C>T (p.Ala70Val) | gnomAD v4 COSMIC |
6 | g.73644510G>C | CA364719125 | SLC17A5 | c.188C>G (p.Ala63Gly) c.137C>G (p.Ala46Gly) c.-11C>G (n.-11C>G) c.61-2586C>G (n.61-2586C>G) c.209C>G (p.Ala70Gly) | |
6 | g.73644510G>T | CA364719119 | SLC17A5 | c.188C>A (p.Ala63Glu) c.137C>A (p.Ala46Glu) c.-11C>A (n.-11C>A) c.61-2586C>A (n.61-2586C>A) c.209C>A (p.Ala70Glu) | |
6 | g.73644511C>A | CA364719128 | SLC17A5 | c.187G>T (p.Ala63Ser) c.136G>T (p.Ala46Ser) c.-12G>T (n.-12G>T) c.61-2587G>T (n.61-2587G>T) c.208G>T (p.Ala70Ser) | |
6 | g.73644511C= | CA1638225579 | SLC17A5 | c.187G= (p.Ala63=) c.136G= (p.Ala46=) c.-12G= (n.-12G=) c.61-2587G= (n.61-2587G=) c.208G= (p.Ala70=) | |
6 | g.73644511C>G | CA364719131 | SLC17A5 | c.187G>C (p.Ala63Pro) c.136G>C (p.Ala46Pro) c.-12G>C (n.-12G>C) c.61-2587G>C (n.61-2587G>C) c.208G>C (p.Ala70Pro) | |
6 | g.73644511C>T | CA364719133 | SLC17A5 | c.187G>A (p.Ala63Thr) c.136G>A (p.Ala46Thr) c.-12G>A (n.-12G>A) c.61-2587G>A (n.61-2587G>A) c.208G>A (p.Ala70Thr) | dbSNP COSMIC |
6 | g.73644512A= | CA1638225581 | SLC17A5 | c.186T= (p.Val62=) c.135T= (p.Val45=) c.-13T= (n.-13T=) c.61-2588T= (n.61-2588T=) c.207T= (p.Val69=) | |
6 | g.73644512A>C | CA450912389 | SLC17A5 | c.186T>G (p.Val62=) c.135T>G (p.Val45=) c.-13T>G (n.-13T>G) c.61-2588T>G (n.61-2588T>G) c.207T>G (p.Val69=) | |
6 | g.73644512A>G | CA140978029 | SLC17A5 | c.186T>C (p.Val62=) c.135T>C (p.Val45=) c.-13T>C (n.-13T>C) c.61-2588T>C (n.61-2588T>C) c.207T>C (p.Val69=) | dbSNP |
6 | g.73644512A>T | CA450912390 | SLC17A5 | c.186T>A (p.Val62=) c.135T>A (p.Val45=) c.-13T>A (n.-13T>A) c.61-2588T>A (n.61-2588T>A) c.207T>A (p.Val69=) | |
6 | g.73644513A>C | CA364719135 | SLC17A5 | c.185T>G (p.Val62Gly) c.134T>G (p.Val45Gly) c.-14T>G (n.-14T>G) c.61-2589T>G (n.61-2589T>G) c.206T>G (p.Val69Gly) | gnomAD v4 |
6 | g.73644513A>G | CA364719138 | SLC17A5 | c.185T>C (p.Val62Ala) c.134T>C (p.Val45Ala) c.-14T>C (n.-14T>C) c.61-2589T>C (n.61-2589T>C) c.206T>C (p.Val69Ala) | |
6 | g.73644513A>T | CA364719141 | SLC17A5 | c.185T>A (p.Val62Asp) c.134T>A (p.Val45Asp) c.-14T>A (n.-14T>A) c.61-2589T>A (n.61-2589T>A) c.206T>A (p.Val69Asp) | |
6 | g.73644514C>A | CA364719144 | SLC17A5 | c.184G>T (p.Val62Phe) c.133G>T (p.Val45Phe) c.-15G>T (n.-15G>T) c.61-2590G>T (n.61-2590G>T) c.205G>T (p.Val69Phe) | |
6 | g.73644514C>G | CA364719146 | SLC17A5 | c.184G>C (p.Val62Leu) c.133G>C (p.Val45Leu) c.-15G>C (n.-15G>C) c.61-2590G>C (n.61-2590G>C) c.205G>C (p.Val69Leu) | |
6 | g.73644514C>T | CA364719148 | SLC17A5 | c.184G>A (p.Val62Ile) c.133G>A (p.Val45Ile) c.-15G>A (n.-15G>A) c.61-2590G>A (n.61-2590G>A) c.205G>A (p.Val69Ile) | |
6 | g.73644515A>C | CA364719149 | SLC17A5 | c.183T>G (p.Ser61Arg) c.132T>G (p.Ser44Arg) c.-16T>G (n.-16T>G) c.61-2591T>G (n.61-2591T>G) c.204T>G (p.Ser68Arg) | |
6 | g.73644515A>G | CA450912391 | SLC17A5 | c.183T>C (p.Ser61=) c.132T>C (p.Ser44=) c.-16T>C (n.-16T>C) c.61-2591T>C (n.61-2591T>C) c.204T>C (p.Ser68=) | |
6 | g.73644515A>T | CA364719150 | SLC17A5 | c.183T>A (p.Ser61Arg) c.132T>A (p.Ser44Arg) c.-16T>A (n.-16T>A) c.61-2591T>A (n.61-2591T>A) c.204T>A (p.Ser68Arg) | |
6 | g.73644516C>A | CA364719154 | SLC17A5 | c.182G>T (p.Ser61Ile) c.131G>T (p.Ser44Ile) c.-17G>T (n.-17G>T) c.61-2592G>T (n.61-2592G>T) c.203G>T (p.Ser68Ile) | |
6 | g.73644516C>G | CA364719156 | SLC17A5 | c.182G>C (p.Ser61Thr) c.131G>C (p.Ser44Thr) c.-17G>C (n.-17G>C) c.61-2592G>C (n.61-2592G>C) c.203G>C (p.Ser68Thr) | |
6 | g.73644516C>T | CA364719152 | SLC17A5 | c.182G>A (p.Ser61Asn) c.131G>A (p.Ser44Asn) c.-17G>A (n.-17G>A) c.61-2592G>A (n.61-2592G>A) c.203G>A (p.Ser68Asn) | gnomAD v4 |
6 | g.73644517T>A | CA364719160 | SLC17A5 | c.181A>T (p.Ser61Cys) c.130A>T (p.Ser44Cys) c.-18A>T (n.-18A>T) c.61-2593A>T (n.61-2593A>T) c.202A>T (p.Ser68Cys) | gnomAD v4 |
6 | g.73644517T>C | CA364719158 | SLC17A5 | c.181A>G (p.Ser61Gly) c.130A>G (p.Ser44Gly) c.-18A>G (n.-18A>G) c.61-2593A>G (n.61-2593A>G) c.202A>G (p.Ser68Gly) | |
6 | g.73644517T>G | CA364719162 | SLC17A5 | c.181A>C (p.Ser61Arg) c.130A>C (p.Ser44Arg) c.-18A>C (n.-18A>C) c.61-2593A>C (n.61-2593A>C) c.202A>C (p.Ser68Arg) | |
6 | g.73644518C>A | CA450912392 | SLC17A5 | c.180G>T (p.Leu60=) c.129G>T (p.Leu43=) c.-19G>T (n.-19G>T) c.61-2594G>T (n.61-2594G>T) c.201G>T (p.Leu67=) | |
6 | g.73644518C>G | CA450912393 | SLC17A5 | c.180G>C (p.Leu60=) c.129G>C (p.Leu43=) c.-19G>C (n.-19G>C) c.61-2594G>C (n.61-2594G>C) c.201G>C (p.Leu67=) | ClinVar |
6 | g.73644518C>T | CA450912394 | SLC17A5 | c.180G>A (p.Leu60=) c.129G>A (p.Leu43=) c.-19G>A (n.-19G>A) c.61-2594G>A (n.61-2594G>A) c.201G>A (p.Leu67=) | |
6 | g.73644519A= | CA1638225584 | SLC17A5 | c.179T= (p.Leu60=) c.128T= (p.Leu43=) c.-20T= (n.-20T=) c.61-2595T= (n.61-2595T=) c.200T= (p.Leu67=) |