Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.6695760A>C | CA397743674 | SLC13A5 | c.1021T>G (p.Trp341Gly) c.970T>G (p.Trp324Gly) c.892T>G (p.Trp298Gly) n.130T>G n.2154T>G c.910T>G (p.Trp304Gly) | |
17 | g.6695760A>G | CA397743676 | SLC13A5 | c.1021T>C (p.Trp341Arg) c.970T>C (p.Trp324Arg) c.892T>C (p.Trp298Arg) n.130T>C n.2154T>C c.910T>C (p.Trp304Arg) | |
17 | g.6695760A>T | CA397743679 | SLC13A5 | c.1021T>A (p.Trp341Arg) c.970T>A (p.Trp324Arg) c.892T>A (p.Trp298Arg) n.130T>A n.2154T>A c.910T>A (p.Trp304Arg) | |
17 | g.6695761G>A | CA497596255 | SLC13A5 | c.1020C>T (p.Gly340=) c.969C>T (p.Gly323=) c.891C>T (p.Gly297=) n.129C>T n.2153C>T c.909C>T (p.Gly303=) | |
17 | g.6695761G>C | CA497596256 | SLC13A5 | c.1020C>G (p.Gly340=) c.969C>G (p.Gly323=) c.891C>G (p.Gly297=) n.129C>G n.2153C>G c.909C>G (p.Gly303=) | |
17 | g.6695761G>T | CA497596257 | SLC13A5 | c.1020C>A (p.Gly340=) c.969C>A (p.Gly323=) c.891C>A (p.Gly297=) n.129C>A n.2153C>A c.909C>A (p.Gly303=) | |
17 | g.6695762C>A | CA397743683 | SLC13A5 | c.1019G>T (p.Gly340Val) c.968G>T (p.Gly323Val) c.890G>T (p.Gly297Val) n.128G>T n.2152G>T c.908G>T (p.Gly303Val) | gnomAD v4 |
17 | g.6695762C>G | CA397743688 | SLC13A5 | c.1019G>C (p.Gly340Ala) c.968G>C (p.Gly323Ala) c.890G>C (p.Gly297Ala) n.128G>C n.2152G>C c.908G>C (p.Gly303Ala) | |
17 | g.6695762C>T | CA397743692 | SLC13A5 | c.1019G>A (p.Gly340Asp) c.968G>A (p.Gly323Asp) c.890G>A (p.Gly297Asp) n.128G>A n.2152G>A c.908G>A (p.Gly303Asp) | |
17 | g.6695763C>A | CA397743701 | SLC13A5 | c.1018G>T (p.Gly340Cys) c.967G>T (p.Gly323Cys) c.889G>T (p.Gly297Cys) n.127G>T n.2151G>T c.907G>T (p.Gly303Cys) | |
17 | g.6695763C= | CA2245487558 | SLC13A5 | c.1018G= (p.Gly340=) c.967G= (p.Gly323=) c.889G= (p.Gly297=) n.127G= n.2151G= c.907G= (p.Gly303=) | |
17 | g.6695763C>G | CA397743697 | SLC13A5 | c.1018G>C (p.Gly340Arg) c.967G>C (p.Gly323Arg) c.889G>C (p.Gly297Arg) n.127G>C n.2151G>C c.907G>C (p.Gly303Arg) | |
17 | g.6695763C>T | CA8331554 | SLC13A5 | c.1018G>A (p.Gly340Ser) c.967G>A (p.Gly323Ser) c.889G>A (p.Gly297Ser) n.127G>A n.2151G>A c.907G>A (p.Gly303Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6695764G>A | CA8331555 | SLC13A5 | c.1017C>T (p.Pro339=) c.966C>T (p.Pro322=) c.888C>T (p.Pro296=) n.126C>T n.2150C>T c.906C>T (p.Pro302=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6695764G>C | CA497596258 | SLC13A5 | c.1017C>G (p.Pro339=) c.966C>G (p.Pro322=) c.888C>G (p.Pro296=) n.126C>G n.2150C>G c.906C>G (p.Pro302=) | ClinVar dbSNP |
17 | g.6695764G= | CA2245487559 | SLC13A5 | c.1017C= (p.Pro339=) c.966C= (p.Pro322=) c.888C= (p.Pro296=) n.126C= n.2150C= c.906C= (p.Pro302=) | |
17 | g.6695764G>T | CA497596259 | SLC13A5 | c.1017C>A (p.Pro339=) c.966C>A (p.Pro322=) c.888C>A (p.Pro296=) n.126C>A n.2150C>A c.906C>A (p.Pro302=) | |
17 | g.6695765G>A | CA397743721 | SLC13A5 | c.1016C>T (p.Pro339Leu) c.965C>T (p.Pro322Leu) c.887C>T (p.Pro296Leu) n.125C>T n.2149C>T c.905C>T (p.Pro302Leu) | COSMIC |
17 | g.6695765G>C | CA397743725 | SLC13A5 | c.1016C>G (p.Pro339Arg) c.965C>G (p.Pro322Arg) c.887C>G (p.Pro296Arg) n.125C>G n.2149C>G c.905C>G (p.Pro302Arg) | |
17 | g.6695765G>T | CA397743728 | SLC13A5 | c.1016C>A (p.Pro339His) c.965C>A (p.Pro322His) c.887C>A (p.Pro296His) n.125C>A n.2149C>A c.905C>A (p.Pro302His) | |
17 | g.6695766G>A | CA397743731 | SLC13A5 | c.1015C>T (p.Pro339Ser) c.964C>T (p.Pro322Ser) c.886C>T (p.Pro296Ser) n.124C>T n.2148C>T c.904C>T (p.Pro302Ser) | |
17 | g.6695766G>C | CA397743736 | SLC13A5 | c.1015C>G (p.Pro339Ala) c.964C>G (p.Pro322Ala) c.886C>G (p.Pro296Ala) n.124C>G n.2148C>G c.904C>G (p.Pro302Ala) | |
17 | g.6695766G= | CA2245487560 | SLC13A5 | c.1015C= (p.Pro339=) c.964C= (p.Pro322=) c.886C= (p.Pro296=) n.124C= n.2148C= c.904C= (p.Pro302=) | |
17 | g.6695766G>T | CA397743738 | SLC13A5 | c.1015C>A (p.Pro339Thr) c.964C>A (p.Pro322Thr) c.886C>A (p.Pro296Thr) n.124C>A n.2148C>A c.904C>A (p.Pro302Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.6695767C>A | CA397743745 | SLC13A5 | c.1014G>T (p.Met338Ile) c.963G>T (p.Met321Ile) c.885G>T (p.Met295Ile) n.123G>T n.2147G>T c.903G>T (p.Met301Ile) | |
17 | g.6695767C>G | CA397743746 | SLC13A5 | c.1014G>C (p.Met338Ile) c.963G>C (p.Met321Ile) c.885G>C (p.Met295Ile) n.123G>C n.2147G>C c.903G>C (p.Met301Ile) | |
17 | g.6695767C>T | CA397743749 | SLC13A5 | c.1014G>A (p.Met338Ile) c.963G>A (p.Met321Ile) c.885G>A (p.Met295Ile) n.123G>A n.2147G>A c.903G>A (p.Met301Ile) | |
17 | g.6695768A>C | CA397743755 | SLC13A5 | c.1013T>G (p.Met338Arg) c.962T>G (p.Met321Arg) c.884T>G (p.Met295Arg) n.122T>G n.2146T>G c.902T>G (p.Met301Arg) | |
17 | g.6695768A>G | CA397743758 | SLC13A5 | c.1013T>C (p.Met338Thr) c.962T>C (p.Met321Thr) c.884T>C (p.Met295Thr) n.122T>C n.2146T>C c.902T>C (p.Met301Thr) | |
17 | g.6695768A>T | CA397743763 | SLC13A5 | c.1013T>A (p.Met338Lys) c.962T>A (p.Met321Lys) c.884T>A (p.Met295Lys) n.122T>A n.2146T>A c.902T>A (p.Met301Lys) | |
17 | g.6695769T>A | CA397743787 | SLC13A5 | c.1012A>T (p.Met338Leu) c.961A>T (p.Met321Leu) c.883A>T (p.Met295Leu) n.121A>T n.2145A>T c.901A>T (p.Met301Leu) | |
17 | g.6695769T>C | CA397743776 | SLC13A5 | c.1012A>G (p.Met338Val) c.961A>G (p.Met321Val) c.883A>G (p.Met295Val) n.121A>G n.2145A>G c.901A>G (p.Met301Val) | |
17 | g.6695769T>G | CA397743782 | SLC13A5 | c.1012A>C (p.Met338Leu) c.961A>C (p.Met321Leu) c.883A>C (p.Met295Leu) n.121A>C n.2145A>C c.901A>C (p.Met301Leu) | |
17 | g.6695770G>A | CA497596260 | SLC13A5 | c.1011C>T (p.Phe337=) c.960C>T (p.Phe320=) c.882C>T (p.Phe294=) n.120C>T n.2144C>T c.900C>T (p.Phe300=) | gnomAD v4 COSMIC |
17 | g.6695770G>C | CA397743789 | SLC13A5 | c.1011C>G (p.Phe337Leu) c.960C>G (p.Phe320Leu) c.882C>G (p.Phe294Leu) n.120C>G n.2144C>G c.900C>G (p.Phe300Leu) | |
17 | g.6695770G>T | CA397743791 | SLC13A5 | c.1011C>A (p.Phe337Leu) c.960C>A (p.Phe320Leu) c.882C>A (p.Phe294Leu) n.120C>A n.2144C>A c.900C>A (p.Phe300Leu) | |
17 | g.6695771A>C | CA397743799 | SLC13A5 | c.1010T>G (p.Phe337Cys) c.959T>G (p.Phe320Cys) c.881T>G (p.Phe294Cys) n.119T>G n.2143T>G c.899T>G (p.Phe300Cys) | |
17 | g.6695771A>G | CA397743805 | SLC13A5 | c.1010T>C (p.Phe337Ser) c.959T>C (p.Phe320Ser) c.881T>C (p.Phe294Ser) n.119T>C n.2143T>C c.899T>C (p.Phe300Ser) | |
17 | g.6695771A>T | CA397743809 | SLC13A5 | c.1010T>A (p.Phe337Tyr) c.959T>A (p.Phe320Tyr) c.881T>A (p.Phe294Tyr) n.119T>A n.2143T>A c.899T>A (p.Phe300Tyr) | |
17 | g.6695772A>C | CA397743814 | SLC13A5 | c.1009T>G (p.Phe337Val) c.958T>G (p.Phe320Val) c.880T>G (p.Phe294Val) n.118T>G n.2142T>G c.898T>G (p.Phe300Val) | |
17 | g.6695772A>G | CA397743820 | SLC13A5 | c.1009T>C (p.Phe337Leu) c.958T>C (p.Phe320Leu) c.880T>C (p.Phe294Leu) n.118T>C n.2142T>C c.898T>C (p.Phe300Leu) | |
17 | g.6695772A>T | CA397743822 | SLC13A5 | c.1009T>A (p.Phe337Ile) c.958T>A (p.Phe320Ile) c.880T>A (p.Phe294Ile) n.118T>A n.2142T>A c.898T>A (p.Phe300Ile) | |
17 | g.6695773G>A | CA497596263 | SLC13A5 | c.1008C>T (p.Gly336=) c.957C>T (p.Gly319=) c.879C>T (p.Gly293=) n.117C>T n.2141C>T c.897C>T (p.Gly299=) | |
17 | g.6695773G>C | CA497596262 | SLC13A5 | c.1008C>G (p.Gly336=) c.957C>G (p.Gly319=) c.879C>G (p.Gly293=) n.117C>G n.2141C>G c.897C>G (p.Gly299=) | |
17 | g.6695773G>T | CA497596261 | SLC13A5 | c.1008C>A (p.Gly336=) c.957C>A (p.Gly319=) c.879C>A (p.Gly293=) n.117C>A n.2141C>A c.897C>A (p.Gly299=) | |
17 | g.6695774C>A | CA397743825 | SLC13A5 | c.1007G>T (p.Gly336Val) c.956G>T (p.Gly319Val) c.878G>T (p.Gly293Val) n.116G>T n.2140G>T c.896G>T (p.Gly299Val) | |
17 | g.6695774C>G | CA397743828 | SLC13A5 | c.1007G>C (p.Gly336Ala) c.956G>C (p.Gly319Ala) c.878G>C (p.Gly293Ala) n.116G>C n.2140G>C c.896G>C (p.Gly299Ala) | |
17 | g.6695774C>T | CA397743852 | SLC13A5 | c.1007G>A (p.Gly336Asp) c.956G>A (p.Gly319Asp) c.878G>A (p.Gly293Asp) n.116G>A n.2140G>A c.896G>A (p.Gly299Asp) | |
17 | g.6695775C>A | CA397743859 | SLC13A5 | c.1006G>T (p.Gly336Cys) c.955G>T (p.Gly319Cys) c.877G>T (p.Gly293Cys) n.115G>T n.2139G>T c.895G>T (p.Gly299Cys) | gnomAD v4 |
17 | g.6695775C= | CA2245487561 | SLC13A5 | c.1006G= (p.Gly336=) c.955G= (p.Gly319=) c.877G= (p.Gly293=) n.115G= n.2139G= c.895G= (p.Gly299=) | |
17 | g.6695775C>G | CA397743864 | SLC13A5 | c.1006G>C (p.Gly336Arg) c.955G>C (p.Gly319Arg) c.877G>C (p.Gly293Arg) n.115G>C n.2139G>C c.895G>C (p.Gly299Arg) | |
17 | g.6695775C>T | CA397743863 | SLC13A5 | c.1006G>A (p.Gly336Ser) c.955G>A (p.Gly319Ser) c.877G>A (p.Gly293Ser) n.115G>A n.2139G>A c.895G>A (p.Gly299Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6695776G>A | CA8331556 | SLC13A5 | c.1005C>T (p.Pro335=) c.954C>T (p.Pro318=) c.876C>T (p.Pro292=) n.114C>T n.2138C>T c.894C>T (p.Pro298=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6695776G>C | CA497596264 | SLC13A5 | c.1005C>G (p.Pro335=) c.954C>G (p.Pro318=) c.876C>G (p.Pro292=) n.114C>G n.2138C>G c.894C>G (p.Pro298=) | |
17 | g.6695776G= | CA2245487562 | SLC13A5 | c.1005C= (p.Pro335=) c.954C= (p.Pro318=) c.876C= (p.Pro292=) n.114C= n.2138C= c.894C= (p.Pro298=) | |
17 | g.6695776G>T | CA16607485 | SLC13A5 | c.1005C>A (p.Pro335=) c.954C>A (p.Pro318=) c.876C>A (p.Pro292=) n.114C>A n.2138C>A c.894C>A (p.Pro298=) | ClinVar dbSNP gnomAD v4 |
17 | g.6695779dup | CA2838511652 | SLC13A5 | c.1005dup (p.Gly336ArgfsTer15) c.954dup (p.Gly319ArgfsTer15) c.876dup (p.Gly293ArgfsTer15) n.114dup n.2138dup c.894dup (p.Gly299ArgfsTer15) | |
17 | g.6695777G>A | CA397743871 | SLC13A5 | c.1004C>T (p.Pro335Leu) c.953C>T (p.Pro318Leu) c.875C>T (p.Pro292Leu) n.113C>T n.2137C>T c.893C>T (p.Pro298Leu) | |
17 | g.6695777G>C | CA397743873 | SLC13A5 | c.1004C>G (p.Pro335Arg) c.953C>G (p.Pro318Arg) c.875C>G (p.Pro292Arg) n.113C>G n.2137C>G c.893C>G (p.Pro298Arg) | |
17 | g.6695777G>T | CA397743882 | SLC13A5 | c.1004C>A (p.Pro335His) c.953C>A (p.Pro318His) c.875C>A (p.Pro292His) n.113C>A n.2137C>A c.893C>A (p.Pro298His) | |
17 | g.6695778G>A | CA397743886 | SLC13A5 | c.1003C>T (p.Pro335Ser) c.952C>T (p.Pro318Ser) c.874C>T (p.Pro292Ser) n.112C>T n.2136C>T c.892C>T (p.Pro298Ser) | |
17 | g.6695778G>C | CA397743905 | SLC13A5 | c.1003C>G (p.Pro335Ala) c.952C>G (p.Pro318Ala) c.874C>G (p.Pro292Ala) n.112C>G n.2136C>G c.892C>G (p.Pro298Ala) | |
17 | g.6695778G>T | CA397743909 | SLC13A5 | c.1003C>A (p.Pro335Thr) c.952C>A (p.Pro318Thr) c.874C>A (p.Pro292Thr) n.112C>A n.2136C>A c.892C>A (p.Pro298Thr) | COSMIC |
17 | g.6695779G>A | CA497596265 | SLC13A5 | c.1002C>T (p.Asp334=) c.951C>T (p.Asp317=) c.873C>T (p.Asp291=) n.111C>T n.2135C>T c.891C>T (p.Asp297=) | ClinVar dbSNP gnomAD v4 |
17 | g.6695779G>C | CA397743911 | SLC13A5 | c.1002C>G (p.Asp334Glu) c.951C>G (p.Asp317Glu) c.873C>G (p.Asp291Glu) n.111C>G n.2135C>G c.891C>G (p.Asp297Glu) | |
17 | g.6695779G= | CA2245487563 | SLC13A5 | c.1002C= (p.Asp334=) c.951C= (p.Asp317=) c.873C= (p.Asp291=) n.111C= n.2135C= c.891C= (p.Asp297=) | |
17 | g.6695779G>T | CA8331557 | SLC13A5 | c.1002C>A (p.Asp334Glu) c.951C>A (p.Asp317Glu) c.873C>A (p.Asp291Glu) n.111C>A n.2135C>A c.891C>A (p.Asp297Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6695780T>A | CA397743914 | SLC13A5 | c.1001A>T (p.Asp334Val) c.950A>T (p.Asp317Val) c.872A>T (p.Asp291Val) n.110A>T n.2134A>T c.890A>T (p.Asp297Val) | |
17 | g.6695780T>C | CA397743917 | SLC13A5 | c.1001A>G (p.Asp334Gly) c.950A>G (p.Asp317Gly) c.872A>G (p.Asp291Gly) n.110A>G n.2134A>G c.890A>G (p.Asp297Gly) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.6695780T>G | CA397743922 | SLC13A5 | c.1001A>C (p.Asp334Ala) c.950A>C (p.Asp317Ala) c.872A>C (p.Asp291Ala) n.110A>C n.2134A>C c.890A>C (p.Asp297Ala) | |
17 | g.6695780T= | CA2245487564 | SLC13A5 | c.1001A= (p.Asp334=) c.950A= (p.Asp317=) c.872A= (p.Asp291=) n.110A= n.2134A= c.890A= (p.Asp297=) | |
17 | g.6695781C>A | CA397743938 | SLC13A5 | c.1000G>T (p.Asp334Tyr) c.949G>T (p.Asp317Tyr) c.871G>T (p.Asp291Tyr) n.109G>T n.2133G>T c.889G>T (p.Asp297Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.6695781C= | CA2245487565 | SLC13A5 | c.1000G= (p.Asp334=) c.949G= (p.Asp317=) c.871G= (p.Asp291=) n.109G= n.2133G= c.889G= (p.Asp297=) | |
17 | g.6695781C>G | CA397743934 | SLC13A5 | c.1000G>C (p.Asp334His) c.949G>C (p.Asp317His) c.871G>C (p.Asp291His) n.109G>C n.2133G>C c.889G>C (p.Asp297His) | |
17 | g.6695781C>T | CA397743926 | SLC13A5 | c.1000G>A (p.Asp334Asn) c.949G>A (p.Asp317Asn) c.871G>A (p.Asp291Asn) n.109G>A n.2133G>A c.889G>A (p.Asp297Asn) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6695782T>A | CA497596266 | SLC13A5 | c.999A>T (p.Arg333=) c.948A>T (p.Arg316=) c.870A>T (p.Arg290=) n.108A>T n.2132A>T c.888A>T (p.Arg296=) | |
17 | g.6695782T>C | CA497596267 | SLC13A5 | c.999A>G (p.Arg333=) c.948A>G (p.Arg316=) c.870A>G (p.Arg290=) n.108A>G n.2132A>G c.888A>G (p.Arg296=) | |
17 | g.6695782T>G | CA497596268 | SLC13A5 | c.999A>C (p.Arg333=) c.948A>C (p.Arg316=) c.870A>C (p.Arg290=) n.108A>C n.2132A>C c.888A>C (p.Arg296=) | |
17 | g.6695783C>A | CA397743941 | SLC13A5 | c.998G>T (p.Arg333Leu) c.947G>T (p.Arg316Leu) c.869G>T (p.Arg290Leu) n.107G>T n.2131G>T c.887G>T (p.Arg296Leu) | |
17 | g.6695783C= | CA2245487566 | SLC13A5 | c.998G= (p.Arg333=) c.947G= (p.Arg316=) c.869G= (p.Arg290=) n.107G= n.2131G= c.887G= (p.Arg296=) | |
17 | g.6695783C>G | CA397743942 | SLC13A5 | c.998G>C (p.Arg333Pro) c.947G>C (p.Arg316Pro) c.869G>C (p.Arg290Pro) n.107G>C n.2131G>C c.887G>C (p.Arg296Pro) | |
17 | g.6695783C>T | CA397743943 | SLC13A5 | c.998G>A (p.Arg333Gln) c.947G>A (p.Arg316Gln) c.869G>A (p.Arg290Gln) n.107G>A n.2131G>A c.887G>A (p.Arg296Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.6695784G>A | CA8331558 | SLC13A5 | c.997C>T (p.Arg333Ter) c.946C>T (p.Arg316Ter) c.868C>T (p.Arg290Ter) n.106C>T n.2130C>T c.886C>T (p.Arg296Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6695784G>C | CA397743948 | SLC13A5 | c.997C>G (p.Arg333Gly) c.946C>G (p.Arg316Gly) c.868C>G (p.Arg290Gly) n.106C>G n.2130C>G c.886C>G (p.Arg296Gly) | |
17 | g.6695784G= | CA2245487567 | SLC13A5 | c.997C= (p.Arg333=) c.946C= (p.Arg316=) c.868C= (p.Arg290=) n.106C= n.2130C= c.886C= (p.Arg296=) | |
17 | g.6695784G>T | CA497596269 | SLC13A5 | c.997C>A (p.Arg333=) c.946C>A (p.Arg316=) c.868C>A (p.Arg290=) n.106C>A n.2130C>A c.886C>A (p.Arg296=) | gnomAD v4 |
17 | g.6695785G>A | CA497596270 | SLC13A5 | c.996C>T (p.Ser332=) c.945C>T (p.Ser315=) c.867C>T (p.Ser289=) n.105C>T n.2129C>T c.885C>T (p.Ser295=) | |
17 | g.6695785G>C | CA497596271 | SLC13A5 | c.996C>G (p.Ser332=) c.945C>G (p.Ser315=) c.867C>G (p.Ser289=) n.105C>G n.2129C>G c.885C>G (p.Ser295=) | |
17 | g.6695785G>T | CA497596272 | SLC13A5 | c.996C>A (p.Ser332=) c.945C>A (p.Ser315=) c.867C>A (p.Ser289=) n.105C>A n.2129C>A c.885C>A (p.Ser295=) | |
17 | g.6695786G>A | CA397743954 | SLC13A5 | c.995C>T (p.Ser332Phe) c.944C>T (p.Ser315Phe) c.866C>T (p.Ser289Phe) n.104C>T n.2128C>T c.884C>T (p.Ser295Phe) | gnomAD v4 |
17 | g.6695786G>C | CA397743958 | SLC13A5 | c.995C>G (p.Ser332Cys) c.944C>G (p.Ser315Cys) c.866C>G (p.Ser289Cys) n.104C>G n.2128C>G c.884C>G (p.Ser295Cys) | gnomAD v4 |
17 | g.6695786G>T | CA397743959 | SLC13A5 | c.995C>A (p.Ser332Tyr) c.944C>A (p.Ser315Tyr) c.866C>A (p.Ser289Tyr) n.104C>A n.2128C>A c.884C>A (p.Ser295Tyr) | |
17 | g.6695786_6695787delinsGA | CA2245487568 | SLC13A5 | c.994_995delinsTC (p.Ser332=) c.943_944delinsTC (p.Ser315=) c.865_866delinsTC (p.Ser289=) n.103_104delinsTC n.2127_2128delinsTC c.883_884delinsTC (p.Ser295=) | |
17 | g.6695787del | CA919783458 | SLC13A5 | c.994del (p.Ser332ProfsTer11) c.943del (p.Ser315ProfsTer11) c.865del (p.Ser289ProfsTer11) n.103del n.2127del c.883del (p.Ser295ProfsTer11) | dbSNP |
17 | g.6695787A>C | CA397743963 | SLC13A5 | c.994T>G (p.Ser332Ala) c.943T>G (p.Ser315Ala) c.865T>G (p.Ser289Ala) n.103T>G n.2127T>G c.883T>G (p.Ser295Ala) | |
17 | g.6695787A>G | CA397743965 | SLC13A5 | c.994T>C (p.Ser332Pro) c.943T>C (p.Ser315Pro) c.865T>C (p.Ser289Pro) n.103T>C n.2127T>C c.883T>C (p.Ser295Pro) | |
17 | g.6695787A>T | CA397743967 | SLC13A5 | c.994T>A (p.Ser332Thr) c.943T>A (p.Ser315Thr) c.865T>A (p.Ser289Thr) n.103T>A n.2127T>A c.883T>A (p.Ser295Thr) | |
17 | g.6695788G>A | CA497596273 | SLC13A5 | c.993C>T (p.Phe331=) c.942C>T (p.Phe314=) c.864C>T (p.Phe288=) n.102C>T n.2126C>T c.882C>T (p.Phe294=) | |
17 | g.6695788G>C | CA397743970 | SLC13A5 | c.993C>G (p.Phe331Leu) c.942C>G (p.Phe314Leu) c.864C>G (p.Phe288Leu) n.102C>G n.2126C>G c.882C>G (p.Phe294Leu) | |
17 | g.6695788G>T | CA397743977 | SLC13A5 | c.993C>A (p.Phe331Leu) c.942C>A (p.Phe314Leu) c.864C>A (p.Phe288Leu) n.102C>A n.2126C>A c.882C>A (p.Phe294Leu) | |
17 | g.6695788_6695789delinsGA | CA2245487569 | SLC13A5 | c.992_993delinsTC (p.Phe331=) c.941_942delinsTC (p.Phe314=) c.863_864delinsTC (p.Phe288=) n.101_102delinsTC n.2125_2126delinsTC c.881_882delinsTC (p.Phe294=) | |
17 | g.6695789A>C | CA397743992 | SLC13A5 | c.992T>G (p.Phe331Cys) c.941T>G (p.Phe314Cys) c.863T>G (p.Phe288Cys) n.101T>G n.2125T>G c.881T>G (p.Phe294Cys) | |
17 | g.6695789A>G | CA397743991 | SLC13A5 | c.992T>C (p.Phe331Ser) c.941T>C (p.Phe314Ser) c.863T>C (p.Phe288Ser) n.101T>C n.2125T>C c.881T>C (p.Phe294Ser) | |
17 | g.6695789A>T | CA397743990 | SLC13A5 | c.992T>A (p.Phe331Tyr) c.941T>A (p.Phe314Tyr) c.863T>A (p.Phe288Tyr) n.101T>A n.2125T>A c.881T>A (p.Phe294Tyr) | |
17 | g.6695790del | CA8331559 | SLC13A5 | c.992del (p.Phe331SerfsTer12) c.941del (p.Phe314SerfsTer12) c.863del (p.Phe288SerfsTer12) n.101del n.2125del c.881del (p.Phe294SerfsTer12) | dbSNP ExAC gnomAD v2 |
17 | g.6695790A= | CA2245487570 | SLC13A5 | c.991T= (p.Phe331=) c.940T= (p.Phe314=) c.862T= (p.Phe288=) n.100T= n.2124T= c.880T= (p.Phe294=) | |
17 | g.6695790A>C | CA397744021 | SLC13A5 | c.991T>G (p.Phe331Val) c.940T>G (p.Phe314Val) c.862T>G (p.Phe288Val) n.100T>G n.2124T>G c.880T>G (p.Phe294Val) | |
17 | g.6695790A>G | CA397744001 | SLC13A5 | c.991T>C (p.Phe331Leu) c.940T>C (p.Phe314Leu) c.862T>C (p.Phe288Leu) n.100T>C n.2124T>C c.880T>C (p.Phe294Leu) | |
17 | g.6695790A>T | CA8331560 | SLC13A5 | c.991T>A (p.Phe331Ile) c.940T>A (p.Phe314Ile) c.862T>A (p.Phe288Ile) n.100T>A n.2124T>A c.880T>A (p.Phe294Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6695792_6695794del | CA2733154966 | SLC13A5 | c.989_991del (p.Trp330del) c.938_940del (p.Trp313del) c.860_862del (p.Trp287del) n.98_100del n.2122_2124del c.878_880del (p.Trp293del) | dbSNP |
17 | g.6695791C>A | CA397744030 | SLC13A5 | c.990G>T (p.Trp330Cys) c.939G>T (p.Trp313Cys) c.861G>T (p.Trp287Cys) n.99G>T n.2123G>T c.879G>T (p.Trp293Cys) | |
17 | g.6695791C>G | CA397744036 | SLC13A5 | c.990G>C (p.Trp330Cys) c.939G>C (p.Trp313Cys) c.861G>C (p.Trp287Cys) n.99G>C n.2123G>C c.879G>C (p.Trp293Cys) | |
17 | g.6695791C>T | CA397744046 | SLC13A5 | c.990G>A (p.Trp330Ter) c.939G>A (p.Trp313Ter) c.861G>A (p.Trp287Ter) n.99G>A n.2123G>A c.879G>A (p.Trp293Ter) | |
17 | g.6695792C>A | CA397744049 | SLC13A5 | c.989G>T (p.Trp330Leu) c.938G>T (p.Trp313Leu) c.860G>T (p.Trp287Leu) n.98G>T n.2122G>T c.878G>T (p.Trp293Leu) | |
17 | g.6695792C>G | CA397744057 | SLC13A5 | c.989G>C (p.Trp330Ser) c.938G>C (p.Trp313Ser) c.860G>C (p.Trp287Ser) n.98G>C n.2122G>C c.878G>C (p.Trp293Ser) | |
17 | g.6695792C>T | CA397744060 | SLC13A5 | c.989G>A (p.Trp330Ter) c.938G>A (p.Trp313Ter) c.860G>A (p.Trp287Ter) n.98G>A n.2122G>A c.878G>A (p.Trp293Ter) | |
17 | g.6695793A>C | CA397744064 | SLC13A5 | c.988T>G (p.Trp330Gly) c.937T>G (p.Trp313Gly) c.859T>G (p.Trp287Gly) n.97T>G n.2121T>G c.877T>G (p.Trp293Gly) | |
17 | g.6695793A>G | CA397744080 | SLC13A5 | c.988T>C (p.Trp330Arg) c.937T>C (p.Trp313Arg) c.859T>C (p.Trp287Arg) n.97T>C n.2121T>C c.877T>C (p.Trp293Arg) | |
17 | g.6695793A>T | CA397744091 | SLC13A5 | c.988T>A (p.Trp330Arg) c.937T>A (p.Trp313Arg) c.859T>A (p.Trp287Arg) n.97T>A n.2121T>A c.877T>A (p.Trp293Arg) | |
17 | g.6695794C>A | CA497596274 | SLC13A5 | c.987G>T (p.Leu329=) c.936G>T (p.Leu312=) c.858G>T (p.Leu286=) n.96G>T n.2120G>T c.876G>T (p.Leu292=) | |
17 | g.6695794C= | CA2245487571 | SLC13A5 | c.987G= (p.Leu329=) c.936G= (p.Leu312=) c.858G= (p.Leu286=) n.96G= n.2120G= c.876G= (p.Leu292=) | |
17 | g.6695794C>G | CA497596275 | SLC13A5 | c.987G>C (p.Leu329=) c.936G>C (p.Leu312=) c.858G>C (p.Leu286=) n.96G>C n.2120G>C c.876G>C (p.Leu292=) | |
17 | g.6695794C>T | CA497596276 | SLC13A5 | c.987G>A (p.Leu329=) c.936G>A (p.Leu312=) c.858G>A (p.Leu286=) n.96G>A n.2120G>A c.876G>A (p.Leu292=) | ClinVar dbSNP gnomAD v4 |
17 | g.6695795A>C | CA397744096 | SLC13A5 | c.986T>G (p.Leu329Arg) c.935T>G (p.Leu312Arg) c.857T>G (p.Leu286Arg) n.95T>G n.2119T>G c.875T>G (p.Leu292Arg) | |
17 | g.6695795A>G | CA397744097 | SLC13A5 | c.986T>C (p.Leu329Pro) c.935T>C (p.Leu312Pro) c.857T>C (p.Leu286Pro) n.95T>C n.2119T>C c.875T>C (p.Leu292Pro) | |
17 | g.6695795A>T | CA397744099 | SLC13A5 | c.986T>A (p.Leu329Gln) c.935T>A (p.Leu312Gln) c.857T>A (p.Leu286Gln) n.95T>A n.2119T>A c.875T>A (p.Leu292Gln) | |
17 | g.6695796G>A | CA497596277 | SLC13A5 | c.985C>T (p.Leu329=) c.934C>T (p.Leu312=) c.856C>T (p.Leu286=) n.94C>T n.2118C>T c.874C>T (p.Leu292=) | |
17 | g.6695796G>C | CA397744101 | SLC13A5 | c.985C>G (p.Leu329Val) c.934C>G (p.Leu312Val) c.856C>G (p.Leu286Val) n.94C>G n.2118C>G c.874C>G (p.Leu292Val) | |
17 | g.6695796G>T | CA397744103 | SLC13A5 | c.985C>A (p.Leu329Met) c.934C>A (p.Leu312Met) c.856C>A (p.Leu286Met) n.94C>A n.2118C>A c.874C>A (p.Leu292Met) | |
17 | g.6695797G>A | CA497596278 | SLC13A5 | c.984C>T (p.Ile328=) c.933C>T (p.Ile311=) c.855C>T (p.Ile285=) n.93C>T n.2117C>T c.873C>T (p.Ile291=) | gnomAD v4 COSMIC |
17 | g.6695797G>C | CA397744105 | SLC13A5 | c.984C>G (p.Ile328Met) c.933C>G (p.Ile311Met) c.855C>G (p.Ile285Met) n.93C>G n.2117C>G c.873C>G (p.Ile291Met) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6695797G= | CA2245487572 | SLC13A5 | c.984C= (p.Ile328=) c.933C= (p.Ile311=) c.855C= (p.Ile285=) n.93C= n.2117C= c.873C= (p.Ile291=) | |
17 | g.6695797G>T | CA497596279 | SLC13A5 | c.984C>A (p.Ile328=) c.933C>A (p.Ile311=) c.855C>A (p.Ile285=) n.93C>A n.2117C>A c.873C>A (p.Ile291=) | |
17 | g.6695798A>C | CA397744109 | SLC13A5 | c.983T>G (p.Ile328Ser) c.932T>G (p.Ile311Ser) c.854T>G (p.Ile285Ser) n.92T>G n.2116T>G c.872T>G (p.Ile291Ser) | |
17 | g.6695798A>G | CA397744115 | SLC13A5 | c.983T>C (p.Ile328Thr) c.932T>C (p.Ile311Thr) c.854T>C (p.Ile285Thr) n.92T>C n.2116T>C c.872T>C (p.Ile291Thr) | |
17 | g.6695798A>T | CA397744117 | SLC13A5 | c.983T>A (p.Ile328Asn) c.932T>A (p.Ile311Asn) c.854T>A (p.Ile285Asn) n.92T>A n.2116T>A c.872T>A (p.Ile291Asn) | gnomAD v4 |
17 | g.6695799T>A | CA397744119 | SLC13A5 | c.982A>T (p.Ile328Phe) c.931A>T (p.Ile311Phe) c.853A>T (p.Ile285Phe) n.91A>T n.2115A>T c.871A>T (p.Ile291Phe) | |
17 | g.6695799T>C | CA397744121 | SLC13A5 | c.982A>G (p.Ile328Val) c.931A>G (p.Ile311Val) c.853A>G (p.Ile285Val) n.91A>G n.2115A>G c.871A>G (p.Ile291Val) | |
17 | g.6695799T>G | CA397744127 | SLC13A5 | c.982A>C (p.Ile328Leu) c.931A>C (p.Ile311Leu) c.853A>C (p.Ile285Leu) n.91A>C n.2115A>C c.871A>C (p.Ile291Leu) | |
17 | g.6695799T= | CA2245487573 | SLC13A5 | c.982A= (p.Ile328=) c.931A= (p.Ile311=) c.853A= (p.Ile285=) n.91A= n.2115A= c.871A= (p.Ile291=) | |
17 | g.6695800G>A | CA497596282 | SLC13A5 | c.981C>T (p.Val327=) c.930C>T (p.Val310=) c.852C>T (p.Val284=) n.90C>T n.2114C>T c.870C>T (p.Val290=) | ClinVar dbSNP |
17 | g.6695800G>C | CA497596281 | SLC13A5 | c.981C>G (p.Val327=) c.930C>G (p.Val310=) c.852C>G (p.Val284=) n.90C>G n.2114C>G c.870C>G (p.Val290=) | |
17 | g.6695800G>T | CA497596280 | SLC13A5 | c.981C>A (p.Val327=) c.930C>A (p.Val310=) c.852C>A (p.Val284=) n.90C>A n.2114C>A c.870C>A (p.Val290=) | |
17 | g.6695802_6695819dup | CA2245487574 | SLC13A5 | c.964_981dup (p.Val327_Ile328insCysPhePheLeuLeuVal) c.913_930dup (p.Val310_Ile311insCysPhePheLeuLeuVal) c.835_852dup (p.Val284_Ile285insCysPhePheLeuLeuVal) n.73_90dup n.2097_2114dup c.853_870dup (p.Val290_Ile291insCysPhePheLeuLeuVal) | dbSNP |
17 | g.6695801A= | CA2245487575 | SLC13A5 | c.980T= (p.Val327=) c.929T= (p.Val310=) c.851T= (p.Val284=) n.89T= n.2113T= c.869T= (p.Val290=) | |
17 | g.6695801A>C | CA397744130 | SLC13A5 | c.980T>G (p.Val327Gly) c.929T>G (p.Val310Gly) c.851T>G (p.Val284Gly) n.89T>G n.2113T>G c.869T>G (p.Val290Gly) | dbSNP gnomAD v4 |
17 | g.6695801A>G | CA397744131 | SLC13A5 | c.980T>C (p.Val327Ala) c.929T>C (p.Val310Ala) c.851T>C (p.Val284Ala) n.89T>C n.2113T>C c.869T>C (p.Val290Ala) | |
17 | g.6695801A>T | CA397744134 | SLC13A5 | c.980T>A (p.Val327Asp) c.929T>A (p.Val310Asp) c.851T>A (p.Val284Asp) n.89T>A n.2113T>A c.869T>A (p.Val290Asp) | |
17 | g.6695802C>A | CA397744140 | SLC13A5 | c.979G>T (p.Val327Phe) c.928G>T (p.Val310Phe) c.850G>T (p.Val284Phe) n.88G>T n.2112G>T c.868G>T (p.Val290Phe) | |
17 | g.6695802C>G | CA397744143 | SLC13A5 | c.979G>C (p.Val327Leu) c.928G>C (p.Val310Leu) c.850G>C (p.Val284Leu) n.88G>C n.2112G>C c.868G>C (p.Val290Leu) | |
17 | g.6695802C>T | CA397744144 | SLC13A5 | c.979G>A (p.Val327Ile) c.928G>A (p.Val310Ile) c.850G>A (p.Val284Ile) n.88G>A n.2112G>A c.868G>A (p.Val290Ile) | |
17 | g.6695803C>A | CA497596283 | SLC13A5 | c.978G>T (p.Leu326=) c.927G>T (p.Leu309=) c.849G>T (p.Leu283=) n.87G>T n.2111G>T c.867G>T (p.Leu289=) | |
17 | g.6695803C>G | CA497596284 | SLC13A5 | c.978G>C (p.Leu326=) c.927G>C (p.Leu309=) c.849G>C (p.Leu283=) n.87G>C n.2111G>C c.867G>C (p.Leu289=) | gnomAD v4 |
17 | g.6695803C>T | CA497596285 | SLC13A5 | c.978G>A (p.Leu326=) c.927G>A (p.Leu309=) c.849G>A (p.Leu283=) n.87G>A n.2111G>A c.867G>A (p.Leu289=) | COSMIC |
17 | g.6695804A>C | CA397744148 | SLC13A5 | c.977T>G (p.Leu326Arg) c.926T>G (p.Leu309Arg) c.848T>G (p.Leu283Arg) n.86T>G n.2110T>G c.866T>G (p.Leu289Arg) | |
17 | g.6695804A>G | CA397744149 | SLC13A5 | c.977T>C (p.Leu326Pro) c.926T>C (p.Leu309Pro) c.848T>C (p.Leu283Pro) n.86T>C n.2110T>C c.866T>C (p.Leu289Pro) | |
17 | g.6695804A>T | CA397744146 | SLC13A5 | c.977T>A (p.Leu326Gln) c.926T>A (p.Leu309Gln) c.848T>A (p.Leu283Gln) n.86T>A n.2110T>A c.866T>A (p.Leu289Gln) | |
17 | g.6695805G>A | CA497596286 | SLC13A5 | c.976C>T (p.Leu326=) c.925C>T (p.Leu309=) c.847C>T (p.Leu283=) n.85C>T n.2109C>T c.865C>T (p.Leu289=) | COSMIC |
17 | g.6695805G>C | CA397744154 | SLC13A5 | c.976C>G (p.Leu326Val) c.925C>G (p.Leu309Val) c.847C>G (p.Leu283Val) n.85C>G n.2109C>G c.865C>G (p.Leu289Val) | |
17 | g.6695805G>T | CA397744155 | SLC13A5 | c.976C>A (p.Leu326Met) c.925C>A (p.Leu309Met) c.847C>A (p.Leu283Met) n.85C>A n.2109C>A c.865C>A (p.Leu289Met) | |
17 | g.6695806C>A | CA497596287 | SLC13A5 | c.975G>T (p.Leu325=) c.924G>T (p.Leu308=) c.846G>T (p.Leu282=) n.84G>T n.2108G>T c.864G>T (p.Leu288=) | |
17 | g.6695806C>G | CA497596289 | SLC13A5 | c.975G>C (p.Leu325=) c.924G>C (p.Leu308=) c.846G>C (p.Leu282=) n.84G>C n.2108G>C c.864G>C (p.Leu288=) | |
17 | g.6695806C>T | CA497596288 | SLC13A5 | c.975G>A (p.Leu325=) c.924G>A (p.Leu308=) c.846G>A (p.Leu282=) n.84G>A n.2108G>A c.864G>A (p.Leu288=) | |
17 | g.6695807A>C | CA397744160 | SLC13A5 | c.974T>G (p.Leu325Arg) c.923T>G (p.Leu308Arg) c.845T>G (p.Leu282Arg) n.83T>G n.2107T>G c.863T>G (p.Leu288Arg) | |
17 | g.6695807A>G | CA397744162 | SLC13A5 | c.974T>C (p.Leu325Pro) c.923T>C (p.Leu308Pro) c.845T>C (p.Leu282Pro) n.83T>C n.2107T>C c.863T>C (p.Leu288Pro) | |
17 | g.6695807A>T | CA397744165 | SLC13A5 | c.974T>A (p.Leu325Gln) c.923T>A (p.Leu308Gln) c.845T>A (p.Leu282Gln) n.83T>A n.2107T>A c.863T>A (p.Leu288Gln) | |
17 | g.6695808G>A | CA497596290 | SLC13A5 | c.973C>T (p.Leu325=) c.922C>T (p.Leu308=) c.844C>T (p.Leu282=) n.82C>T n.2106C>T c.862C>T (p.Leu288=) | dbSNP |
17 | g.6695808G>C | CA397744168 | SLC13A5 | c.973C>G (p.Leu325Val) c.922C>G (p.Leu308Val) c.844C>G (p.Leu282Val) n.82C>G n.2106C>G c.862C>G (p.Leu288Val) | |
17 | g.6695808G>T | CA397744171 | SLC13A5 | c.973C>A (p.Leu325Met) c.922C>A (p.Leu308Met) c.844C>A (p.Leu282Met) n.82C>A n.2106C>A c.862C>A (p.Leu288Met) | |
17 | g.6695809G>A | CA497596291 | SLC13A5 | c.972C>T (p.Phe324=) c.921C>T (p.Phe307=) c.843C>T (p.Phe281=) n.81C>T n.2105C>T c.861C>T (p.Phe287=) | dbSNP |
17 | g.6695809G>C | CA397744179 | SLC13A5 | c.972C>G (p.Phe324Leu) c.921C>G (p.Phe307Leu) c.843C>G (p.Phe281Leu) n.81C>G n.2105C>G c.861C>G (p.Phe287Leu) | |
17 | g.6695809G>T | CA397744184 | SLC13A5 | c.972C>A (p.Phe324Leu) c.921C>A (p.Phe307Leu) c.843C>A (p.Phe281Leu) n.81C>A n.2105C>A c.861C>A (p.Phe287Leu) | |
17 | g.6695810A>C | CA397744188 | SLC13A5 | c.971T>G (p.Phe324Cys) c.920T>G (p.Phe307Cys) c.842T>G (p.Phe281Cys) n.80T>G n.2104T>G c.860T>G (p.Phe287Cys) | |
17 | g.6695810A>G | CA397744190 | SLC13A5 | c.971T>C (p.Phe324Ser) c.920T>C (p.Phe307Ser) c.842T>C (p.Phe281Ser) n.80T>C n.2104T>C c.860T>C (p.Phe287Ser) | |
17 | g.6695810A>T | CA397744192 | SLC13A5 | c.971T>A (p.Phe324Tyr) c.920T>A (p.Phe307Tyr) c.842T>A (p.Phe281Tyr) n.80T>A n.2104T>A c.860T>A (p.Phe287Tyr) | |
17 | g.6695810_6695811del | CA2576144206 | SLC13A5 | c.970_971del (p.Phe324ProfsTer26) c.919_920del (p.Phe307ProfsTer26) c.841_842del (p.Phe281ProfsTer26) n.79_80del n.2103_2104del c.859_860del (p.Phe287ProfsTer26) | |
17 | g.6695811A= | CA2245487576 | SLC13A5 | c.970T= (p.Phe324=) c.919T= (p.Phe307=) c.841T= (p.Phe281=) n.79T= n.2103T= c.859T= (p.Phe287=) | |
17 | g.6695811A>C | CA397744194 | SLC13A5 | c.970T>G (p.Phe324Val) c.919T>G (p.Phe307Val) c.841T>G (p.Phe281Val) n.79T>G n.2103T>G c.859T>G (p.Phe287Val) | |
17 | g.6695811A>G | CA8331561 | SLC13A5 | c.970T>C (p.Phe324Leu) c.919T>C (p.Phe307Leu) c.841T>C (p.Phe281Leu) n.79T>C n.2103T>C c.859T>C (p.Phe287Leu) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
17 | g.6695811A>T | CA397744197 | SLC13A5 | c.970T>A (p.Phe324Ile) c.919T>A (p.Phe307Ile) c.841T>A (p.Phe281Ile) n.79T>A n.2103T>A c.859T>A (p.Phe287Ile) | |
17 | g.6695812G>A | CA497596292 | SLC13A5 | c.969C>T (p.Phe323=) c.918C>T (p.Phe306=) c.840C>T (p.Phe280=) n.78C>T n.2102C>T c.858C>T (p.Phe286=) | gnomAD v4 |
17 | g.6695812G>C | CA397744200 | SLC13A5 | c.969C>G (p.Phe323Leu) c.918C>G (p.Phe306Leu) c.840C>G (p.Phe280Leu) n.78C>G n.2102C>G c.858C>G (p.Phe286Leu) | |
17 | g.6695812G>T | CA397744211 | SLC13A5 | c.969C>A (p.Phe323Leu) c.918C>A (p.Phe306Leu) c.840C>A (p.Phe280Leu) n.78C>A n.2102C>A c.858C>A (p.Phe286Leu) | |
17 | g.6695813A= | CA2245487577 | SLC13A5 | c.968T= (p.Phe323=) c.917T= (p.Phe306=) c.839T= (p.Phe280=) n.77T= n.2101T= c.857T= (p.Phe286=) | |
17 | g.6695813A>C | CA8331562 | SLC13A5 | c.968T>G (p.Phe323Cys) c.917T>G (p.Phe306Cys) c.839T>G (p.Phe280Cys) n.77T>G n.2101T>G c.857T>G (p.Phe286Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.6695813A>G | CA287388155 | SLC13A5 | c.968T>C (p.Phe323Ser) c.917T>C (p.Phe306Ser) c.839T>C (p.Phe280Ser) n.77T>C n.2101T>C c.857T>C (p.Phe286Ser) | dbSNP |
17 | g.6695813A>T | CA397744214 | SLC13A5 | c.968T>A (p.Phe323Tyr) c.917T>A (p.Phe306Tyr) c.839T>A (p.Phe280Tyr) n.77T>A n.2101T>A c.857T>A (p.Phe286Tyr) | |
17 | g.6695814A>C | CA397744217 | SLC13A5 | c.967T>G (p.Phe323Val) c.916T>G (p.Phe306Val) c.838T>G (p.Phe280Val) n.76T>G n.2100T>G c.856T>G (p.Phe286Val) | |
17 | g.6695814A>G | CA397744220 | SLC13A5 | c.967T>C (p.Phe323Leu) c.916T>C (p.Phe306Leu) c.838T>C (p.Phe280Leu) n.76T>C n.2100T>C c.856T>C (p.Phe286Leu) | |
17 | g.6695814A>T | CA397744222 | SLC13A5 | c.967T>A (p.Phe323Ile) c.916T>A (p.Phe306Ile) c.838T>A (p.Phe280Ile) n.76T>A n.2100T>A c.856T>A (p.Phe286Ile) | |
17 | g.6695815G>A | CA497596293 | SLC13A5 | c.966C>T (p.Cys322=) c.915C>T (p.Cys305=) c.837C>T (p.Cys279=) n.75C>T n.2099C>T c.855C>T (p.Cys285=) | gnomAD v4 |
17 | g.6695815G>C | CA397744225 | SLC13A5 | c.966C>G (p.Cys322Trp) c.915C>G (p.Cys305Trp) c.837C>G (p.Cys279Trp) n.75C>G n.2099C>G c.855C>G (p.Cys285Trp) | |
17 | g.6695815G>T | CA397744228 | SLC13A5 | c.966C>A (p.Cys322Ter) c.915C>A (p.Cys305Ter) c.837C>A (p.Cys279Ter) n.75C>A n.2099C>A c.855C>A (p.Cys285Ter) | |
17 | g.6695816C>A | CA397744249 | SLC13A5 | c.965G>T (p.Cys322Phe) c.914G>T (p.Cys305Phe) c.836G>T (p.Cys279Phe) n.74G>T n.2098G>T c.854G>T (p.Cys285Phe) | |
17 | g.6695816C= | CA2245487578 | SLC13A5 | c.965G= (p.Cys322=) c.914G= (p.Cys305=) c.836G= (p.Cys279=) n.74G= n.2098G= c.854G= (p.Cys285=) | |
17 | g.6695816C>G | CA397744251 | SLC13A5 | c.965G>C (p.Cys322Ser) c.914G>C (p.Cys305Ser) c.836G>C (p.Cys279Ser) n.74G>C n.2098G>C c.854G>C (p.Cys285Ser) | gnomAD v4 |
17 | g.6695816C>T | CA397744253 | SLC13A5 | c.965G>A (p.Cys322Tyr) c.914G>A (p.Cys305Tyr) c.836G>A (p.Cys279Tyr) n.74G>A n.2098G>A c.854G>A (p.Cys285Tyr) | ClinVar dbSNP |
17 | g.6695817A>C | CA397744260 | SLC13A5 | c.964T>G (p.Cys322Gly) c.913T>G (p.Cys305Gly) c.835T>G (p.Cys279Gly) c.*714T>G (n.*714T>G) n.73T>G n.2097T>G c.853T>G (p.Cys285Gly) | gnomAD v4 |
17 | g.6695817A>G | CA397744272 | SLC13A5 | c.964T>C (p.Cys322Arg) c.913T>C (p.Cys305Arg) c.835T>C (p.Cys279Arg) c.*714T>C (n.*714T>C) n.73T>C n.2097T>C c.853T>C (p.Cys285Arg) | |
17 | g.6695817A>T | CA397744257 | SLC13A5 | c.964T>A (p.Cys322Ser) c.913T>A (p.Cys305Ser) c.835T>A (p.Cys279Ser) c.*714T>A (n.*714T>A) n.73T>A n.2097T>A c.853T>A (p.Cys285Ser) | |
17 | g.6695818G>A | CA497596294 | SLC13A5 | c.963C>T (p.Ile321=) c.912C>T (p.Ile304=) c.834C>T (p.Ile278=) c.*713C>T (n.*713C>T) n.72C>T n.2096C>T c.852C>T (p.Ile284=) | |
17 | g.6695818G>C | CA397744279 | SLC13A5 | c.963C>G (p.Ile321Met) c.912C>G (p.Ile304Met) c.834C>G (p.Ile278Met) c.*713C>G (n.*713C>G) n.72C>G n.2096C>G c.852C>G (p.Ile284Met) | |
17 | g.6695818G>T | CA497596295 | SLC13A5 | c.963C>A (p.Ile321=) c.912C>A (p.Ile304=) c.834C>A (p.Ile278=) c.*713C>A (n.*713C>A) n.72C>A n.2096C>A c.852C>A (p.Ile284=) | |
17 | g.6695819A>C | CA397744284 | SLC13A5 | c.962T>G (p.Ile321Ser) c.911T>G (p.Ile304Ser) c.833T>G (p.Ile278Ser) c.*712T>G (n.*712T>G) n.71T>G n.2095T>G c.851T>G (p.Ile284Ser) | |
17 | g.6695819A>G | CA397744289 | SLC13A5 | c.962T>C (p.Ile321Thr) c.911T>C (p.Ile304Thr) c.833T>C (p.Ile278Thr) c.*712T>C (n.*712T>C) n.71T>C n.2095T>C c.851T>C (p.Ile284Thr) | |
17 | g.6695819A>T | CA397744290 | SLC13A5 | c.962T>A (p.Ile321Asn) c.911T>A (p.Ile304Asn) c.833T>A (p.Ile278Asn) c.*712T>A (n.*712T>A) n.71T>A n.2095T>A c.851T>A (p.Ile284Asn) | |
17 | g.6695820T>A | CA397744301 | SLC13A5 | c.961A>T (p.Ile321Phe) c.910A>T (p.Ile304Phe) c.832A>T (p.Ile278Phe) c.*711A>T (n.*711A>T) n.70A>T n.2094A>T c.850A>T (p.Ile284Phe) | |
17 | g.6695820T>C | CA397744302 | SLC13A5 | c.961A>G (p.Ile321Val) c.910A>G (p.Ile304Val) c.832A>G (p.Ile278Val) c.*711A>G (n.*711A>G) n.70A>G n.2094A>G c.850A>G (p.Ile284Val) | |
17 | g.6695820T>G | CA397744304 | SLC13A5 | c.961A>C (p.Ile321Leu) c.910A>C (p.Ile304Leu) c.832A>C (p.Ile278Leu) c.*711A>C (n.*711A>C) n.70A>C n.2094A>C c.850A>C (p.Ile284Leu) | |
17 | g.6695821C>A | CA497596298 | SLC13A5 | c.960G>T (p.Leu320=) c.909G>T (p.Leu303=) c.831G>T (p.Leu277=) c.*710G>T (n.*710G>T) n.69G>T n.2093G>T c.849G>T (p.Leu283=) | COSMIC |
17 | g.6695821C>G | CA497596296 | SLC13A5 | c.960G>C (p.Leu320=) c.909G>C (p.Leu303=) c.831G>C (p.Leu277=) c.*710G>C (n.*710G>C) n.69G>C n.2093G>C c.849G>C (p.Leu283=) | |
17 | g.6695821C>T | CA497596297 | SLC13A5 | c.960G>A (p.Leu320=) c.909G>A (p.Leu303=) c.831G>A (p.Leu277=) c.*710G>A (n.*710G>A) n.69G>A n.2093G>A c.849G>A (p.Leu283=) | |
17 | g.6695822A>C | CA397744308 | SLC13A5 | c.959T>G (p.Leu320Arg) c.908T>G (p.Leu303Arg) c.830T>G (p.Leu277Arg) c.*709T>G (n.*709T>G) n.68T>G n.2092T>G c.848T>G (p.Leu283Arg) | |
17 | g.6695822A>G | CA397744317 | SLC13A5 | c.959T>C (p.Leu320Pro) c.908T>C (p.Leu303Pro) c.830T>C (p.Leu277Pro) c.*709T>C (n.*709T>C) n.68T>C n.2092T>C c.848T>C (p.Leu283Pro) | gnomAD v4 |
17 | g.6695822A>T | CA397744321 | SLC13A5 | c.959T>A (p.Leu320Gln) c.908T>A (p.Leu303Gln) c.830T>A (p.Leu277Gln) c.*709T>A (n.*709T>A) n.68T>A n.2092T>A c.848T>A (p.Leu283Gln) | |
17 | g.6695823G>A | CA497596299 | SLC13A5 | c.958C>T (p.Leu320=) c.907C>T (p.Leu303=) c.829C>T (p.Leu277=) c.*708C>T (n.*708C>T) n.67C>T n.2091C>T c.847C>T (p.Leu283=) | |
17 | g.6695823G>C | CA397744328 | SLC13A5 | c.958C>G (p.Leu320Val) c.907C>G (p.Leu303Val) c.829C>G (p.Leu277Val) c.*708C>G (n.*708C>G) n.67C>G n.2091C>G c.847C>G (p.Leu283Val) | |
17 | g.6695823G>T | CA397744332 | SLC13A5 | c.958C>A (p.Leu320Met) c.907C>A (p.Leu303Met) c.829C>A (p.Leu277Met) c.*708C>A (n.*708C>A) n.67C>A n.2091C>A c.847C>A (p.Leu283Met) | gnomAD v4 |
17 | g.6695824C>A | CA497596300 | SLC13A5 | c.957G>T (p.Val319=) c.906G>T (p.Val302=) c.828G>T (p.Val276=) c.*707G>T (n.*707G>T) n.66G>T n.2090G>T c.846G>T (p.Val282=) | |
17 | g.6695824C= | CA2245487579 | SLC13A5 | c.957G= (p.Val319=) c.906G= (p.Val302=) c.828G= (p.Val276=) c.*707G= (n.*707G=) n.66G= n.2090G= c.846G= (p.Val282=) | |
17 | g.6695824C>G | CA497596301 | SLC13A5 | c.957G>C (p.Val319=) c.906G>C (p.Val302=) c.828G>C (p.Val276=) c.*707G>C (n.*707G>C) n.66G>C n.2090G>C c.846G>C (p.Val282=) | |
17 | g.6695824C>T | CA497596302 | SLC13A5 | c.957G>A (p.Val319=) c.906G>A (p.Val302=) c.828G>A (p.Val276=) c.*707G>A (n.*707G>A) n.66G>A n.2090G>A c.846G>A (p.Val282=) | dbSNP |
17 | g.6695825A>C | CA397744338 | SLC13A5 | c.956T>G (p.Val319Gly) c.905T>G (p.Val302Gly) c.827T>G (p.Val276Gly) c.*706T>G (n.*706T>G) n.65T>G n.2089T>G c.845T>G (p.Val282Gly) | gnomAD v4 |
17 | g.6695825A>G | CA397744342 | SLC13A5 | c.956T>C (p.Val319Ala) c.905T>C (p.Val302Ala) c.827T>C (p.Val276Ala) c.*706T>C (n.*706T>C) n.65T>C n.2089T>C c.845T>C (p.Val282Ala) | |
17 | g.6695825A>T | CA397744335 | SLC13A5 | c.956T>A (p.Val319Glu) c.905T>A (p.Val302Glu) c.827T>A (p.Val276Glu) c.*706T>A (n.*706T>A) n.65T>A n.2089T>A c.845T>A (p.Val282Glu) | |
17 | g.6695826C>A | CA397744346 | SLC13A5 | c.955G>T (p.Val319Leu) c.904G>T (p.Val302Leu) c.826G>T (p.Val276Leu) c.*705G>T (n.*705G>T) n.64G>T n.2088G>T c.844G>T (p.Val282Leu) | gnomAD v4 |
17 | g.6695826C= | CA2245487580 | SLC13A5 | c.955G= (p.Val319=) c.904G= (p.Val302=) c.826G= (p.Val276=) c.*705G= (n.*705G=) n.64G= n.2088G= c.844G= (p.Val282=) | |
17 | g.6695826C>G | CA397744356 | SLC13A5 | c.955G>C (p.Val319Leu) c.904G>C (p.Val302Leu) c.826G>C (p.Val276Leu) c.*705G>C (n.*705G>C) n.64G>C n.2088G>C c.844G>C (p.Val282Leu) | dbSNP |
17 | g.6695826C>T | CA8331563 | SLC13A5 | c.955G>A (p.Val319Met) c.904G>A (p.Val302Met) c.826G>A (p.Val276Met) c.*705G>A (n.*705G>A) n.64G>A n.2088G>A c.844G>A (p.Val282Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.6695827G>A | CA8331564 | SLC13A5 | c.954C>T (p.Asn318=) c.903C>T (p.Asn301=) c.825C>T (p.Asn275=) c.*704C>T (n.*704C>T) n.63C>T n.2087C>T c.843C>T (p.Asn281=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6695827G>C | CA397744361 | SLC13A5 | c.954C>G (p.Asn318Lys) c.903C>G (p.Asn301Lys) c.825C>G (p.Asn275Lys) c.*704C>G (n.*704C>G) n.63C>G n.2087C>G c.843C>G (p.Asn281Lys) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6695827G= | CA2245487581 | SLC13A5 | c.954C= (p.Asn318=) c.903C= (p.Asn301=) c.825C= (p.Asn275=) c.*704C= (n.*704C=) n.63C= n.2087C= c.843C= (p.Asn281=) | |
17 | g.6695827G>T | CA397744362 | SLC13A5 | c.954C>A (p.Asn318Lys) c.903C>A (p.Asn301Lys) c.825C>A (p.Asn275Lys) c.*704C>A (n.*704C>A) n.63C>A n.2087C>A c.843C>A (p.Asn281Lys) | |
17 | g.6695828T>A | CA397744363 | SLC13A5 | c.953A>T (p.Asn318Ile) c.902A>T (p.Asn301Ile) c.824A>T (p.Asn275Ile) c.*703A>T (n.*703A>T) n.62A>T n.2086A>T c.842A>T (p.Asn281Ile) | |
17 | g.6695828T>C | CA397744367 | SLC13A5 | c.953A>G (p.Asn318Ser) c.902A>G (p.Asn301Ser) c.824A>G (p.Asn275Ser) c.*703A>G (n.*703A>G) n.62A>G n.2086A>G c.842A>G (p.Asn281Ser) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.6695828T>G | CA397744364 | SLC13A5 | c.953A>C (p.Asn318Thr) c.902A>C (p.Asn301Thr) c.824A>C (p.Asn275Thr) c.*703A>C (n.*703A>C) n.62A>C n.2086A>C c.842A>C (p.Asn281Thr) | |
17 | g.6695828T= | CA2245487582 | SLC13A5 | c.953A= (p.Asn318=) c.902A= (p.Asn301=) c.824A= (p.Asn275=) c.*703A= (n.*703A=) n.62A= n.2086A= c.842A= (p.Asn281=) | |
17 | g.6695829T>A | CA397744369 | SLC13A5 | c.952A>T (p.Asn318Tyr) c.901A>T (p.Asn301Tyr) c.823A>T (p.Asn275Tyr) c.*702A>T (n.*702A>T) n.61A>T n.2085A>T c.841A>T (p.Asn281Tyr) | |
17 | g.6695829T>C | CA397744372 | SLC13A5 | c.952A>G (p.Asn318Asp) c.901A>G (p.Asn301Asp) c.823A>G (p.Asn275Asp) c.*702A>G (n.*702A>G) n.61A>G n.2085A>G c.841A>G (p.Asn281Asp) | |
17 | g.6695829T>G | CA397744375 | SLC13A5 | c.952A>C (p.Asn318His) c.901A>C (p.Asn301His) c.823A>C (p.Asn275His) c.*702A>C (n.*702A>C) n.61A>C n.2085A>C c.841A>C (p.Asn281His) | |
17 | g.6695830G>A | CA497596303 | SLC13A5 | c.951C>T (p.Ile317=) c.900C>T (p.Ile300=) c.822C>T (p.Ile274=) c.*701C>T (n.*701C>T) n.60C>T n.2084C>T c.840C>T (p.Ile280=) | |
17 | g.6695830G>C | CA397744379 | SLC13A5 | c.951C>G (p.Ile317Met) c.900C>G (p.Ile300Met) c.822C>G (p.Ile274Met) c.*701C>G (n.*701C>G) n.60C>G n.2084C>G c.840C>G (p.Ile280Met) | |
17 | g.6695830G>T | CA497596304 | SLC13A5 | c.951C>A (p.Ile317=) c.900C>A (p.Ile300=) c.822C>A (p.Ile274=) c.*701C>A (n.*701C>A) n.60C>A n.2084C>A c.840C>A (p.Ile280=) | |
17 | g.6695830_6695831insGCACGATCTGGGCTCACTGCAACCTCTGCCTCCTGGGTTCA | CA2635728290 | SLC13A5 | c.950_951insTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCCAGATCGTGC (p.Asn318GlufsTer9) c.899_900insTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCCAGATCGTGC (p.Asn301GlufsTer9) c.821_822insTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCCAGATCGTGC (p.Asn275GlufsTer9) c.*700_*701insTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCCAGATCGTGC (n.*700_*701insTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCCAGATCGTGC) n.59_60insTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCCAGATCGTGC n.2083_2084insTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCCAGATCGTGC c.839_840insTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCCAGATCGTGC (p.Asn281GlufsTer9) | gnomAD v4 |
17 | g.6695831A>C | CA397744385 | SLC13A5 | c.950T>G (p.Ile317Ser) c.899T>G (p.Ile300Ser) c.821T>G (p.Ile274Ser) c.*700T>G (n.*700T>G) n.59T>G n.2083T>G c.839T>G (p.Ile280Ser) | |
17 | g.6695831A>G | CA397744391 | SLC13A5 | c.950T>C (p.Ile317Thr) c.899T>C (p.Ile300Thr) c.821T>C (p.Ile274Thr) c.*700T>C (n.*700T>C) n.59T>C n.2083T>C c.839T>C (p.Ile280Thr) | |
17 | g.6695831A>T | CA397744387 | SLC13A5 | c.950T>A (p.Ile317Asn) c.899T>A (p.Ile300Asn) c.821T>A (p.Ile274Asn) c.*700T>A (n.*700T>A) n.59T>A n.2083T>A c.839T>A (p.Ile280Asn) | |
17 | g.6695832T>A | CA397744392 | SLC13A5 | c.949A>T (p.Ile317Phe) c.898A>T (p.Ile300Phe) c.820A>T (p.Ile274Phe) c.*699A>T (n.*699A>T) n.58A>T n.2082A>T c.838A>T (p.Ile280Phe) | ClinVar dbSNP |
17 | g.6695832T>C | CA397744394 | SLC13A5 | c.949A>G (p.Ile317Val) c.898A>G (p.Ile300Val) c.820A>G (p.Ile274Val) c.*699A>G (n.*699A>G) n.58A>G n.2082A>G c.838A>G (p.Ile280Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6695832T>G | CA397744393 | SLC13A5 | c.949A>C (p.Ile317Leu) c.898A>C (p.Ile300Leu) c.820A>C (p.Ile274Leu) c.*699A>C (n.*699A>C) n.58A>C n.2082A>C c.838A>C (p.Ile280Leu) | |
17 | g.6695832T= | CA2245487583 | SLC13A5 | c.949A= (p.Ile317=) c.898A= (p.Ile300=) c.820A= (p.Ile274=) c.*699A= (n.*699A=) n.58A= n.2082A= c.838A= (p.Ile280=) | |
17 | g.6695833C>A | CA397744397 | SLC13A5 | c.948G>T (p.Glu316Asp) c.897G>T (p.Glu299Asp) c.819G>T (p.Glu273Asp) c.*698G>T (n.*698G>T) n.57G>T n.2081G>T c.837G>T (p.Glu279Asp) | |
17 | g.6695833C>G | CA397744399 | SLC13A5 | c.948G>C (p.Glu316Asp) c.897G>C (p.Glu299Asp) c.819G>C (p.Glu273Asp) c.*698G>C (n.*698G>C) n.57G>C n.2081G>C c.837G>C (p.Glu279Asp) | |
17 | g.6695833C>T | CA497596305 | SLC13A5 | c.948G>A (p.Glu316=) c.897G>A (p.Glu299=) c.819G>A (p.Glu273=) c.*698G>A (n.*698G>A) n.57G>A n.2081G>A c.837G>A (p.Glu279=) | |
17 | g.6695834T>A | CA397744404 | SLC13A5 | c.947A>T (p.Glu316Val) c.896A>T (p.Glu299Val) c.818A>T (p.Glu273Val) c.*697A>T (n.*697A>T) n.56A>T n.2080A>T c.836A>T (p.Glu279Val) | |
17 | g.6695834T>C | CA397744406 | SLC13A5 | c.947A>G (p.Glu316Gly) c.896A>G (p.Glu299Gly) c.818A>G (p.Glu273Gly) c.*697A>G (n.*697A>G) n.56A>G n.2080A>G c.836A>G (p.Glu279Gly) | gnomAD v4 |
17 | g.6695834T>G | CA397744408 | SLC13A5 | c.947A>C (p.Glu316Ala) c.896A>C (p.Glu299Ala) c.818A>C (p.Glu273Ala) c.*697A>C (n.*697A>C) n.56A>C n.2080A>C c.836A>C (p.Glu279Ala) | |
17 | g.6695835C>A | CA397744411 | SLC13A5 | c.946G>T (p.Glu316Ter) c.895G>T (p.Glu299Ter) c.817G>T (p.Glu273Ter) c.*696G>T (n.*696G>T) n.55G>T n.2079G>T c.835G>T (p.Glu279Ter) | |
17 | g.6695835C>G | CA397744414 | SLC13A5 | c.946G>C (p.Glu316Gln) c.895G>C (p.Glu299Gln) c.817G>C (p.Glu273Gln) c.*696G>C (n.*696G>C) n.55G>C n.2079G>C c.835G>C (p.Glu279Gln) | |
17 | g.6695835C>T | CA397744418 | SLC13A5 | c.946G>A (p.Glu316Lys) c.895G>A (p.Glu299Lys) c.817G>A (p.Glu273Lys) c.*696G>A (n.*696G>A) n.55G>A n.2079G>A c.835G>A (p.Glu279Lys) | |
17 | g.6695836C>A | CA497596306 | SLC13A5 | c.945G>T (p.Ala315=) c.894G>T (p.Ala298=) c.816G>T (p.Ala272=) c.*695G>T (n.*695G>T) n.54G>T n.2078G>T c.834G>T (p.Ala278=) | |
17 | g.6695836C= | CA2245487584 | SLC13A5 | c.945G= (p.Ala315=) c.894G= (p.Ala298=) c.816G= (p.Ala272=) c.*695G= (n.*695G=) n.54G= n.2078G= c.834G= (p.Ala278=) | |
17 | g.6695836C>G | CA497596307 | SLC13A5 | c.945G>C (p.Ala315=) c.894G>C (p.Ala298=) c.816G>C (p.Ala272=) c.*695G>C (n.*695G>C) n.54G>C n.2078G>C c.834G>C (p.Ala278=) | gnomAD v4 |
17 | g.6695836C>T | CA16607492 | SLC13A5 | c.945G>A (p.Ala315=) c.894G>A (p.Ala298=) c.816G>A (p.Ala272=) c.*695G>A (n.*695G>A) n.54G>A n.2078G>A c.834G>A (p.Ala278=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.6695837G>A | CA8331565 | SLC13A5 | c.944C>T (p.Ala315Val) c.893C>T (p.Ala298Val) c.815C>T (p.Ala272Val) c.*694C>T (n.*694C>T) n.53C>T n.2077C>T c.833C>T (p.Ala278Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6695837G>C | CA397744431 | SLC13A5 | c.944C>G (p.Ala315Gly) c.893C>G (p.Ala298Gly) c.815C>G (p.Ala272Gly) c.*694C>G (n.*694C>G) n.53C>G n.2077C>G c.833C>G (p.Ala278Gly) | |
17 | g.6695837G= | CA2245487585 | SLC13A5 | c.944C= (p.Ala315=) c.893C= (p.Ala298=) c.815C= (p.Ala272=) c.*694C= (n.*694C=) n.53C= n.2077C= c.833C= (p.Ala278=) | |
17 | g.6695837G>T | CA397744434 | SLC13A5 | c.944C>A (p.Ala315Glu) c.893C>A (p.Ala298Glu) c.815C>A (p.Ala272Glu) c.*694C>A (n.*694C>A) n.53C>A n.2077C>A c.833C>A (p.Ala278Glu) | ClinVar dbSNP gnomAD v4 |
17 | g.6695838C>A | CA397744438 | SLC13A5 | c.943G>T (p.Ala315Ser) c.892G>T (p.Ala298Ser) c.814G>T (p.Ala272Ser) c.*693G>T (n.*693G>T) n.52G>T n.2076G>T c.832G>T (p.Ala278Ser) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6695838C= | CA2245487586 | SLC13A5 | c.943G= (p.Ala315=) c.892G= (p.Ala298=) c.814G= (p.Ala272=) c.*693G= (n.*693G=) n.52G= n.2076G= c.832G= (p.Ala278=) | |
17 | g.6695838C>G | CA397744445 | SLC13A5 | c.943G>C (p.Ala315Pro) c.892G>C (p.Ala298Pro) c.814G>C (p.Ala272Pro) c.*693G>C (n.*693G>C) n.52G>C n.2076G>C c.832G>C (p.Ala278Pro) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.6695838C>T | CA8331566 | SLC13A5 | c.943G>A (p.Ala315Thr) c.892G>A (p.Ala298Thr) c.814G>A (p.Ala272Thr) c.*693G>A (n.*693G>A) n.52G>A n.2076G>A c.832G>A (p.Ala278Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.6695839G>A | CA8331567 | SLC13A5 | c.942C>T (p.Phe314=) c.891C>T (p.Phe297=) c.813C>T (p.Phe271=) c.*692C>T (n.*692C>T) n.51C>T n.2075C>T c.831C>T (p.Phe277=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6695839G>C | CA397744458 | SLC13A5 | c.942C>G (p.Phe314Leu) c.891C>G (p.Phe297Leu) c.813C>G (p.Phe271Leu) c.*692C>G (n.*692C>G) n.51C>G n.2075C>G c.831C>G (p.Phe277Leu) | |
17 | g.6695839G= | CA2245487587 | SLC13A5 | c.942C= (p.Phe314=) c.891C= (p.Phe297=) c.813C= (p.Phe271=) c.*692C= (n.*692C=) n.51C= n.2075C= c.831C= (p.Phe277=) | |
17 | g.6695839G>T | CA397744461 | SLC13A5 | c.942C>A (p.Phe314Leu) c.891C>A (p.Phe297Leu) c.813C>A (p.Phe271Leu) c.*692C>A (n.*692C>A) n.51C>A n.2075C>A c.831C>A (p.Phe277Leu) | |
17 | g.6695840A>C | CA397744465 | SLC13A5 | c.941T>G (p.Phe314Cys) c.890T>G (p.Phe297Cys) c.812T>G (p.Phe271Cys) c.*691T>G (n.*691T>G) n.50T>G n.2074T>G c.830T>G (p.Phe277Cys) | |
17 | g.6695840A>G | CA397744469 | SLC13A5 | c.941T>C (p.Phe314Ser) c.890T>C (p.Phe297Ser) c.812T>C (p.Phe271Ser) c.*691T>C (n.*691T>C) n.50T>C n.2074T>C c.830T>C (p.Phe277Ser) | |
17 | g.6695840A>T | CA397744471 | SLC13A5 | c.941T>A (p.Phe314Tyr) c.890T>A (p.Phe297Tyr) c.812T>A (p.Phe271Tyr) c.*691T>A (n.*691T>A) n.50T>A n.2074T>A c.830T>A (p.Phe277Tyr) | |
17 | g.6695841A>C | CA397744473 | SLC13A5 | c.940T>G (p.Phe314Val) c.889T>G (p.Phe297Val) c.811T>G (p.Phe271Val) c.*690T>G (n.*690T>G) n.49T>G n.2073T>G c.829T>G (p.Phe277Val) | |
17 | g.6695841A>G | CA397744474 | SLC13A5 | c.940T>C (p.Phe314Leu) c.889T>C (p.Phe297Leu) c.811T>C (p.Phe271Leu) c.*690T>C (n.*690T>C) n.49T>C n.2073T>C c.829T>C (p.Phe277Leu) | |
17 | g.6695841A>T | CA397744478 | SLC13A5 | c.940T>A (p.Phe314Ile) c.889T>A (p.Phe297Ile) c.811T>A (p.Phe271Ile) c.*690T>A (n.*690T>A) n.49T>A n.2073T>A c.829T>A (p.Phe277Ile) | |
17 | g.6695842G>A | CA497596310 | SLC13A5 | c.939C>T (p.Ser313=) c.888C>T (p.Ser296=) c.810C>T (p.Ser270=) c.*689C>T (n.*689C>T) n.48C>T n.2072C>T c.828C>T (p.Ser276=) | |
17 | g.6695842G>C | CA497596309 | SLC13A5 | c.939C>G (p.Ser313=) c.888C>G (p.Ser296=) c.810C>G (p.Ser270=) c.*689C>G (n.*689C>G) n.48C>G n.2072C>G c.828C>G (p.Ser276=) | |
17 | g.6695842G>T | CA497596308 | SLC13A5 | c.939C>A (p.Ser313=) c.888C>A (p.Ser296=) c.810C>A (p.Ser270=) c.*689C>A (n.*689C>A) n.48C>A n.2072C>A c.828C>A (p.Ser276=) | gnomAD v4 |
17 | g.6695843G>A | CA397744480 | SLC13A5 | c.938C>T (p.Ser313Phe) c.887C>T (p.Ser296Phe) c.809C>T (p.Ser270Phe) c.*688C>T (n.*688C>T) n.47C>T n.2071C>T c.827C>T (p.Ser276Phe) | gnomAD v4 |
17 | g.6695843G>C | CA397744481 | SLC13A5 | c.938C>G (p.Ser313Cys) c.887C>G (p.Ser296Cys) c.809C>G (p.Ser270Cys) c.*688C>G (n.*688C>G) n.47C>G n.2071C>G c.827C>G (p.Ser276Cys) | |
17 | g.6695843G>T | CA397744482 | SLC13A5 | c.938C>A (p.Ser313Tyr) c.887C>A (p.Ser296Tyr) c.809C>A (p.Ser270Tyr) c.*688C>A (n.*688C>A) n.47C>A n.2071C>A c.827C>A (p.Ser276Tyr) | |
17 | g.6695844A>C | CA397744483 | SLC13A5 | c.937T>G (p.Ser313Ala) c.886T>G (p.Ser296Ala) c.808T>G (p.Ser270Ala) c.*687T>G (n.*687T>G) n.46T>G n.2070T>G c.826T>G (p.Ser276Ala) | |
17 | g.6695844A>G | CA397744485 | SLC13A5 | c.937T>C (p.Ser313Pro) c.886T>C (p.Ser296Pro) c.808T>C (p.Ser270Pro) c.*687T>C (n.*687T>C) n.46T>C n.2070T>C c.826T>C (p.Ser276Pro) | |
17 | g.6695844A>T | CA397744486 | SLC13A5 | c.937T>A (p.Ser313Thr) c.886T>A (p.Ser296Thr) c.808T>A (p.Ser270Thr) c.*687T>A (n.*687T>A) n.46T>A n.2070T>A c.826T>A (p.Ser276Thr) | |
17 | g.6695845C>A | CA397744488 | SLC13A5 | c.936G>T (p.Leu312Phe) c.885G>T (p.Leu295Phe) c.807G>T (p.Leu269Phe) c.*686G>T (n.*686G>T) n.45G>T n.2069G>T c.825G>T (p.Leu275Phe) | |
17 | g.6695845C= | CA2245487588 | SLC13A5 | c.936G= (p.Leu312=) c.885G= (p.Leu295=) c.807G= (p.Leu269=) c.*686G= (n.*686G=) n.45G= n.2069G= c.825G= (p.Leu275=) | |
17 | g.6695845C>G | CA397744491 | SLC13A5 | c.936G>C (p.Leu312Phe) c.885G>C (p.Leu295Phe) c.807G>C (p.Leu269Phe) c.*686G>C (n.*686G>C) n.45G>C n.2069G>C c.825G>C (p.Leu275Phe) | |
17 | g.6695845C>T | CA287388178 | SLC13A5 | c.936G>A (p.Leu312=) c.885G>A (p.Leu295=) c.807G>A (p.Leu269=) c.*686G>A (n.*686G>A) n.45G>A n.2069G>A c.825G>A (p.Leu275=) | dbSNP |
17 | g.6695846A>C | CA397744495 | SLC13A5 | c.935T>G (p.Leu312Trp) c.884T>G (p.Leu295Trp) c.806T>G (p.Leu269Trp) c.*685T>G (n.*685T>G) n.44T>G n.2068T>G c.824T>G (p.Leu275Trp) | |
17 | g.6695846A>G | CA397744497 | SLC13A5 | c.935T>C (p.Leu312Ser) c.884T>C (p.Leu295Ser) c.806T>C (p.Leu269Ser) c.*685T>C (n.*685T>C) n.44T>C n.2068T>C c.824T>C (p.Leu275Ser) | gnomAD v4 |
17 | g.6695846A>T | CA397744500 | SLC13A5 | c.935T>A (p.Leu312Ter) c.884T>A (p.Leu295Ter) c.806T>A (p.Leu269Ter) c.*685T>A (n.*685T>A) n.44T>A n.2068T>A c.824T>A (p.Leu275Ter) | |
17 | g.6695847A>C | CA397744510 | SLC13A5 | c.934T>G (p.Leu312Val) c.883T>G (p.Leu295Val) c.805T>G (p.Leu269Val) c.*684T>G (n.*684T>G) n.43T>G n.2067T>G c.823T>G (p.Leu275Val) | |
17 | g.6695847A>G | CA497596311 | SLC13A5 | c.934T>C (p.Leu312=) c.883T>C (p.Leu295=) c.805T>C (p.Leu269=) c.*684T>C (n.*684T>C) n.43T>C n.2067T>C c.823T>C (p.Leu275=) | |
17 | g.6695847A>T | CA397744512 | SLC13A5 | c.934T>A (p.Leu312Met) c.883T>A (p.Leu295Met) c.805T>A (p.Leu269Met) c.*684T>A (n.*684T>A) n.43T>A n.2067T>A c.823T>A (p.Leu275Met) | |
17 | g.6695848G>A | CA497596312 | SLC13A5 | c.933C>T (p.Pro311=) c.882C>T (p.Pro294=) c.804C>T (p.Pro268=) c.*683C>T (n.*683C>T) n.42C>T n.2066C>T c.822C>T (p.Pro274=) | gnomAD v4 COSMIC |
17 | g.6695848G>C | CA497596314 | SLC13A5 | c.933C>G (p.Pro311=) c.882C>G (p.Pro294=) c.804C>G (p.Pro268=) c.*683C>G (n.*683C>G) n.42C>G n.2066C>G c.822C>G (p.Pro274=) | |
17 | g.6695848G= | CA2245487589 | SLC13A5 | c.933C= (p.Pro311=) c.882C= (p.Pro294=) c.804C= (p.Pro268=) c.*683C= (n.*683C=) n.42C= n.2066C= c.822C= (p.Pro274=) | |
17 | g.6695848G>T | CA497596313 | SLC13A5 | c.933C>A (p.Pro311=) c.882C>A (p.Pro294=) c.804C>A (p.Pro268=) c.*683C>A (n.*683C>A) n.42C>A n.2066C>A c.822C>A (p.Pro274=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.6695849G>A | CA397744516 | SLC13A5 | c.932C>T (p.Pro311Leu) c.881C>T (p.Pro294Leu) c.803C>T (p.Pro268Leu) c.*682C>T (n.*682C>T) n.41C>T n.2065C>T c.821C>T (p.Pro274Leu) | |
17 | g.6695849G>C | CA397744526 | SLC13A5 | c.932C>G (p.Pro311Arg) c.881C>G (p.Pro294Arg) c.803C>G (p.Pro268Arg) c.*682C>G (n.*682C>G) n.41C>G n.2065C>G c.821C>G (p.Pro274Arg) | |
17 | g.6695849G>T | CA397744528 | SLC13A5 | c.932C>A (p.Pro311His) c.881C>A (p.Pro294His) c.803C>A (p.Pro268His) c.*682C>A (n.*682C>A) n.41C>A n.2065C>A c.821C>A (p.Pro274His) | |
17 | g.6695850G>A | CA8331568 | SLC13A5 | c.931C>T (p.Pro311Ser) c.880C>T (p.Pro294Ser) c.802C>T (p.Pro268Ser) c.*681C>T (n.*681C>T) n.40C>T n.2064C>T c.820C>T (p.Pro274Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6695850G>C | CA397744532 | SLC13A5 | c.931C>G (p.Pro311Ala) c.880C>G (p.Pro294Ala) c.802C>G (p.Pro268Ala) c.*681C>G (n.*681C>G) n.40C>G n.2064C>G c.820C>G (p.Pro274Ala) | |
17 | g.6695850G= | CA2245487590 | SLC13A5 | c.931C= (p.Pro311=) c.880C= (p.Pro294=) c.802C= (p.Pro268=) c.*681C= (n.*681C=) n.40C= n.2064C= c.820C= (p.Pro274=) | |
17 | g.6695850G>T | CA397744534 | SLC13A5 | c.931C>A (p.Pro311Thr) c.880C>A (p.Pro294Thr) c.802C>A (p.Pro268Thr) c.*681C>A (n.*681C>A) n.40C>A n.2064C>A c.820C>A (p.Pro274Thr) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.6695850_6695851delinsGC | CA2245487591 | SLC13A5 | c.930_931delinsGC (p.Gly310=) c.879_880delinsGC (p.Gly293=) c.801_802delinsGC (p.Gly267=) c.*680_*681delinsGC (n.*680_*681delinsGC) n.39_40delinsGC n.2063_2064delinsGC c.819_820delinsGC (p.Gly273=) | |
17 | g.6695851C>A | CA8331569 | SLC13A5 | c.930G>T (p.Gly310=) c.879G>T (p.Gly293=) c.801G>T (p.Gly267=) c.*680G>T (n.*680G>T) n.39G>T n.2063G>T c.819G>T (p.Gly273=) | dbSNP ExAC gnomAD v2 |
17 | g.6695851C= | CA2245487592 | SLC13A5 | c.930G= (p.Gly310=) c.879G= (p.Gly293=) c.801G= (p.Gly267=) c.*680G= (n.*680G=) n.39G= n.2063G= c.819G= (p.Gly273=) | |
17 | g.6695851C>G | CA497596315 | SLC13A5 | c.930G>C (p.Gly310=) c.879G>C (p.Gly293=) c.801G>C (p.Gly267=) c.*680G>C (n.*680G>C) n.39G>C n.2063G>C c.819G>C (p.Gly273=) | |
17 | g.6695851C>T | CA497596316 | SLC13A5 | c.930G>A (p.Gly310=) c.879G>A (p.Gly293=) c.801G>A (p.Gly267=) c.*680G>A (n.*680G>A) n.39G>A n.2063G>A c.819G>A (p.Gly273=) | dbSNP gnomAD v4 |
17 | g.6695854del | CA1139665098 | SLC13A5 | c.930del (p.Leu312CysfsTer9) c.879del (p.Leu295CysfsTer9) c.801del (p.Leu269CysfsTer9) c.*680del (n.*680del) n.39del n.2063del c.819del (p.Leu275CysfsTer9) | ClinVar dbSNP gnomAD v4 |
17 | g.6695852C>A | CA397744544 | SLC13A5 | c.929G>T (p.Gly310Val) c.878G>T (p.Gly293Val) c.800G>T (p.Gly267Val) c.*679G>T (n.*679G>T) n.38G>T n.2062G>T c.818G>T (p.Gly273Val) | |
17 | g.6695852C= | CA2245487593 | SLC13A5 | c.929G= (p.Gly310=) c.878G= (p.Gly293=) c.800G= (p.Gly267=) c.*679G= (n.*679G=) n.38G= n.2062G= c.818G= (p.Gly273=) | |
17 | g.6695852C>G | CA397744536 | SLC13A5 | c.929G>C (p.Gly310Ala) c.878G>C (p.Gly293Ala) c.800G>C (p.Gly267Ala) c.*679G>C (n.*679G>C) n.38G>C n.2062G>C c.818G>C (p.Gly273Ala) | |
17 | g.6695852C>T | CA397744538 | SLC13A5 | c.929G>A (p.Gly310Glu) c.878G>A (p.Gly293Glu) c.800G>A (p.Gly267Glu) c.*679G>A (n.*679G>A) n.38G>A n.2062G>A c.818G>A (p.Gly273Glu) | dbSNP |
17 | g.6695853C>A | CA397744547 | SLC13A5 | c.928G>T (p.Gly310Trp) c.877G>T (p.Gly293Trp) c.799G>T (p.Gly267Trp) c.*678G>T (n.*678G>T) n.37G>T n.2061G>T c.817G>T (p.Gly273Trp) | |
17 | g.6695853C>G | CA397744549 | SLC13A5 | c.928G>C (p.Gly310Arg) c.877G>C (p.Gly293Arg) c.799G>C (p.Gly267Arg) c.*678G>C (n.*678G>C) n.37G>C n.2061G>C c.817G>C (p.Gly273Arg) | gnomAD v4 |
17 | g.6695853C>T | CA397744555 | SLC13A5 | c.928G>A (p.Gly310Arg) c.877G>A (p.Gly293Arg) c.799G>A (p.Gly267Arg) c.*678G>A (n.*678G>A) n.37G>A n.2061G>A c.817G>A (p.Gly273Arg) | |
17 | g.6695854C>A | CA497596317 | SLC13A5 | c.927G>T (p.Leu309=) c.876G>T (p.Leu292=) c.798G>T (p.Leu266=) c.*677G>T (n.*677G>T) n.36G>T n.2060G>T c.816G>T (p.Leu272=) | |
17 | g.6695854C= | CA2245487594 | SLC13A5 | c.927G= (p.Leu309=) c.876G= (p.Leu292=) c.798G= (p.Leu266=) c.*677G= (n.*677G=) n.36G= n.2060G= c.816G= (p.Leu272=) | |
17 | g.6695854C>G | CA497596318 | SLC13A5 | c.927G>C (p.Leu309=) c.876G>C (p.Leu292=) c.798G>C (p.Leu266=) c.*677G>C (n.*677G>C) n.36G>C n.2060G>C c.816G>C (p.Leu272=) | |
17 | g.6695854C>T | CA8331570 | SLC13A5 | c.927G>A (p.Leu309=) c.876G>A (p.Leu292=) c.798G>A (p.Leu266=) c.*677G>A (n.*677G>A) n.36G>A n.2060G>A c.816G>A (p.Leu272=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.6695855A>C | CA397744560 | SLC13A5 | c.926T>G (p.Leu309Arg) c.875T>G (p.Leu292Arg) c.797T>G (p.Leu266Arg) c.*676T>G (n.*676T>G) n.35T>G n.2059T>G c.815T>G (p.Leu272Arg) | |
17 | g.6695855A>G | CA397744565 | SLC13A5 | c.926T>C (p.Leu309Pro) c.875T>C (p.Leu292Pro) c.797T>C (p.Leu266Pro) c.*676T>C (n.*676T>C) n.35T>C n.2059T>C c.815T>C (p.Leu272Pro) | |
17 | g.6695855A>T | CA397744568 | SLC13A5 | c.926T>A (p.Leu309Gln) c.875T>A (p.Leu292Gln) c.797T>A (p.Leu266Gln) c.*676T>A (n.*676T>A) n.35T>A n.2059T>A c.815T>A (p.Leu272Gln) | |
17 | g.6695856G>A | CA497596319 | SLC13A5 | c.925C>T (p.Leu309=) c.874C>T (p.Leu292=) c.796C>T (p.Leu266=) c.*675C>T (n.*675C>T) n.34C>T n.2058C>T c.814C>T (p.Leu272=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.6695856G>C | CA397744570 | SLC13A5 | c.925C>G (p.Leu309Val) c.874C>G (p.Leu292Val) c.796C>G (p.Leu266Val) c.*675C>G (n.*675C>G) n.34C>G n.2058C>G c.814C>G (p.Leu272Val) | |
17 | g.6695856G= | CA2245487595 | SLC13A5 | c.925C= (p.Leu309=) c.874C= (p.Leu292=) c.796C= (p.Leu266=) c.*675C= (n.*675C=) n.34C= n.2058C= c.814C= (p.Leu272=) | |
17 | g.6695856G>T | CA397744573 | SLC13A5 | c.925C>A (p.Leu309Met) c.874C>A (p.Leu292Met) c.796C>A (p.Leu266Met) c.*675C>A (n.*675C>A) n.34C>A n.2058C>A c.814C>A (p.Leu272Met) | |
17 | g.6695857C>A | CA397744575 | SLC13A5 | c.924G>T (p.Lys308Asn) c.873G>T (p.Lys291Asn) c.795G>T (p.Lys265Asn) c.*674G>T (n.*674G>T) n.33G>T n.2057G>T c.813G>T (p.Lys271Asn) | |
17 | g.6695857C= | CA2245487596 | SLC13A5 | c.924G= (p.Lys308=) c.873G= (p.Lys291=) c.795G= (p.Lys265=) c.*674G= (n.*674G=) n.33G= n.2057G= c.813G= (p.Lys271=) | |
17 | g.6695857C>G | CA397744577 | SLC13A5 | c.924G>C (p.Lys308Asn) c.873G>C (p.Lys291Asn) c.795G>C (p.Lys265Asn) c.*674G>C (n.*674G>C) n.33G>C n.2057G>C c.813G>C (p.Lys271Asn) | |
17 | g.6695857C>T | CA497596320 | SLC13A5 | c.924G>A (p.Lys308=) c.873G>A (p.Lys291=) c.795G>A (p.Lys265=) c.*674G>A (n.*674G>A) n.33G>A n.2057G>A c.813G>A (p.Lys271=) | |
17 | g.6695858T>A | CA397744583 | SLC13A5 | c.923A>T (p.Lys308Met) c.872A>T (p.Lys291Met) c.794A>T (p.Lys265Met) c.*673A>T (n.*673A>T) n.32A>T n.2056A>T c.812A>T (p.Lys271Met) | |
17 | g.6695858T>C | CA397744581 | SLC13A5 | c.923A>G (p.Lys308Arg) c.872A>G (p.Lys291Arg) c.794A>G (p.Lys265Arg) c.*673A>G (n.*673A>G) n.32A>G n.2056A>G c.812A>G (p.Lys271Arg) | |
17 | g.6695858T>G | CA397744579 | SLC13A5 | c.923A>C (p.Lys308Thr) c.872A>C (p.Lys291Thr) c.794A>C (p.Lys265Thr) c.*673A>C (n.*673A>C) n.32A>C n.2056A>C c.812A>C (p.Lys271Thr) | |
17 | g.6695859dup | CA287388187 | SLC13A5 | c.923dup (p.Leu309AlafsTer?) c.872dup (p.Leu292AlafsTer?) c.794dup (p.Leu266AlafsTer?) c.*673dup (n.*673dup) n.32dup n.2056dup c.812dup (p.Leu272AlafsTer?) | dbSNP |
17 | g.6695859T>A | CA397744585 | SLC13A5 | c.922A>T (p.Lys308Ter) c.871A>T (p.Lys291Ter) c.793A>T (p.Lys265Ter) c.*672A>T (n.*672A>T) n.31A>T n.2055A>T c.811A>T (p.Lys271Ter) | |
17 | g.6695859T>C | CA397744587 | SLC13A5 | c.922A>G (p.Lys308Glu) c.871A>G (p.Lys291Glu) c.793A>G (p.Lys265Glu) c.*672A>G (n.*672A>G) n.31A>G n.2055A>G c.811A>G (p.Lys271Glu) | |
17 | g.6695859T>G | CA397744590 | SLC13A5 | c.922A>C (p.Lys308Gln) c.871A>C (p.Lys291Gln) c.793A>C (p.Lys265Gln) c.*672A>C (n.*672A>C) n.31A>C n.2055A>C c.811A>C (p.Lys271Gln) | |
17 | g.6695860C>A | CA497596321 | SLC13A5 | c.921G>T (p.Arg307=) c.870G>T (p.Arg290=) c.792G>T (p.Arg264=) c.*671G>T (n.*671G>T) n.30G>T n.2054G>T c.810G>T (p.Arg270=) | |
17 | g.6695860C>G | CA497596323 | SLC13A5 | c.921G>C (p.Arg307=) c.870G>C (p.Arg290=) c.792G>C (p.Arg264=) c.*671G>C (n.*671G>C) n.30G>C n.2054G>C c.810G>C (p.Arg270=) | |
17 | g.6695860C>T | CA497596322 | SLC13A5 | c.921G>A (p.Arg307=) c.870G>A (p.Arg290=) c.792G>A (p.Arg264=) c.*671G>A (n.*671G>A) n.30G>A n.2054G>A c.810G>A (p.Arg270=) |