Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.6695802_6695819dupCA2245487574SLC13A5c.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
17g.6695815G>ACA497596293SLC13A5c.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
17g.6695815G>CCA397744225SLC13A5c.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)
17g.6695815G>TCA397744228SLC13A5c.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)
17g.6695816C>ACA397744249SLC13A5c.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)
17g.6695816C=CA2245487578SLC13A5c.965G= (p.Cys322=)
c.914G= (p.Cys305=)
c.836G= (p.Cys279=)
n.74G=
n.2098G=
c.854G= (p.Cys285=)
17g.6695816C>GCA397744251SLC13A5c.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
17g.6695816C>TCA397744253SLC13A5c.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
17g.6695817A>CCA397744260SLC13A5c.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
17g.6695817A>GCA397744272SLC13A5c.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)
17g.6695817A>TCA397744257SLC13A5c.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)
17g.6695818G>ACA497596294SLC13A5c.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=)
17g.6695818G>CCA397744279SLC13A5c.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)
17g.6695818G>TCA497596295SLC13A5c.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=)
17g.6695819A>CCA397744284SLC13A5c.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)
17g.6695819A>GCA397744289SLC13A5c.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)
17g.6695819A>TCA397744290SLC13A5c.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)
17g.6695820T>ACA397744301SLC13A5c.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)
17g.6695820T>CCA397744302SLC13A5c.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)
17g.6695820T>GCA397744304SLC13A5c.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)
17g.6695821C>ACA497596298SLC13A5c.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
17g.6695821C>GCA497596296SLC13A5c.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=)
17g.6695821C>TCA497596297SLC13A5c.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=)
17g.6695822A>CCA397744308SLC13A5c.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)
17g.6695822A>GCA397744317SLC13A5c.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
17g.6695822A>TCA397744321SLC13A5c.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)
17g.6695823G>ACA497596299SLC13A5c.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=)
17g.6695823G>CCA397744328SLC13A5c.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)
17g.6695823G>TCA397744332SLC13A5c.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
17g.6695824C>ACA497596300SLC13A5c.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=)
17g.6695824C=CA2245487579SLC13A5c.957G= (p.Val319=)
c.906G= (p.Val302=)
c.828G= (p.Val276=)
c.*707G= (n.*707G=)
n.66G=
n.2090G=
c.846G= (p.Val282=)
17g.6695824C>GCA497596301SLC13A5c.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=)
17g.6695824C>TCA497596302SLC13A5c.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
17g.6695825A>CCA397744338SLC13A5c.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
17g.6695825A>GCA397744342SLC13A5c.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)
17g.6695825A>TCA397744335SLC13A5c.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)
17g.6695826C>ACA397744346SLC13A5c.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
17g.6695826C=CA2245487580SLC13A5c.955G= (p.Val319=)
c.904G= (p.Val302=)
c.826G= (p.Val276=)
c.*705G= (n.*705G=)
n.64G=
n.2088G=
c.844G= (p.Val282=)
17g.6695826C>GCA397744356SLC13A5c.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
17g.6695826C>TCA8331563SLC13A5c.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
17g.6695827G>ACA8331564SLC13A5c.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
17g.6695827G>CCA397744361SLC13A5c.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
17g.6695827G=CA2245487581SLC13A5c.954C= (p.Asn318=)
c.903C= (p.Asn301=)
c.825C= (p.Asn275=)
c.*704C= (n.*704C=)
n.63C=
n.2087C=
c.843C= (p.Asn281=)
17g.6695827G>TCA397744362SLC13A5c.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)
17g.6695828T>ACA397744363SLC13A5c.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)
17g.6695828T>CCA397744367SLC13A5c.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
17g.6695828T>GCA397744364SLC13A5c.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)
17g.6695828T=CA2245487582SLC13A5c.953A= (p.Asn318=)
c.902A= (p.Asn301=)
c.824A= (p.Asn275=)
c.*703A= (n.*703A=)
n.62A=
n.2086A=
c.842A= (p.Asn281=)
17g.6695829T>ACA397744369SLC13A5c.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)
17g.6695829T>CCA397744372SLC13A5c.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)
17g.6695829T>GCA397744375SLC13A5c.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)
17g.6695830G>ACA497596303SLC13A5c.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=)
17g.6695830G>CCA397744379SLC13A5c.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)
17g.6695830G>TCA497596304SLC13A5c.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=)
17g.6695830_6695831insGCACGATCTGGGCTCACTGCAACCTCTGCCTCCTGGGTTCACA2635728290SLC13A5c.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
17g.6695831A>CCA397744385SLC13A5c.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)
17g.6695831A>GCA397744391SLC13A5c.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)
17g.6695831A>TCA397744387SLC13A5c.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)
17g.6695832T>ACA397744392SLC13A5c.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
17g.6695832T>CCA397744394SLC13A5c.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
17g.6695832T>GCA397744393SLC13A5c.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)
17g.6695832T=CA2245487583SLC13A5c.949A= (p.Ile317=)
c.898A= (p.Ile300=)
c.820A= (p.Ile274=)
c.*699A= (n.*699A=)
n.58A=
n.2082A=
c.838A= (p.Ile280=)
17g.6695833C>ACA397744397SLC13A5c.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)
17g.6695833C>GCA397744399SLC13A5c.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)
17g.6695833C>TCA497596305SLC13A5c.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=)
17g.6695834T>ACA397744404SLC13A5c.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)
17g.6695834T>CCA397744406SLC13A5c.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
17g.6695834T>GCA397744408SLC13A5c.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)
17g.6695835C>ACA397744411SLC13A5c.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)
17g.6695835C>GCA397744414SLC13A5c.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)
17g.6695835C>TCA397744418SLC13A5c.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)
17g.6695836C>ACA497596306SLC13A5c.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=)
17g.6695836C=CA2245487584SLC13A5c.945G= (p.Ala315=)
c.894G= (p.Ala298=)
c.816G= (p.Ala272=)
c.*695G= (n.*695G=)
n.54G=
n.2078G=
c.834G= (p.Ala278=)
17g.6695836C>GCA497596307SLC13A5c.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
17g.6695836C>TCA16607492SLC13A5c.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
17g.6695837G>ACA8331565SLC13A5c.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
17g.6695837G>CCA397744431SLC13A5c.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)
17g.6695837G=CA2245487585SLC13A5c.944C= (p.Ala315=)
c.893C= (p.Ala298=)
c.815C= (p.Ala272=)
c.*694C= (n.*694C=)
n.53C=
n.2077C=
c.833C= (p.Ala278=)
17g.6695837G>TCA397744434SLC13A5c.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
17g.6695838C>ACA397744438SLC13A5c.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
17g.6695838C=CA2245487586SLC13A5c.943G= (p.Ala315=)
c.892G= (p.Ala298=)
c.814G= (p.Ala272=)
c.*693G= (n.*693G=)
n.52G=
n.2076G=
c.832G= (p.Ala278=)
17g.6695838C>GCA397744445SLC13A5c.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
17g.6695838C>TCA8331566SLC13A5c.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
17g.6695839G>ACA8331567SLC13A5c.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
17g.6695839G>CCA397744458SLC13A5c.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)
17g.6695839G=CA2245487587SLC13A5c.942C= (p.Phe314=)
c.891C= (p.Phe297=)
c.813C= (p.Phe271=)
c.*692C= (n.*692C=)
n.51C=
n.2075C=
c.831C= (p.Phe277=)
17g.6695839G>TCA397744461SLC13A5c.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)
17g.6695840A>CCA397744465SLC13A5c.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)
17g.6695840A>GCA397744469SLC13A5c.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)
17g.6695840A>TCA397744471SLC13A5c.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)
17g.6695841A>CCA397744473SLC13A5c.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)
17g.6695841A>GCA397744474SLC13A5c.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)
17g.6695841A>TCA397744478SLC13A5c.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)
17g.6695842G>ACA497596310SLC13A5c.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=)
17g.6695842G>CCA497596309SLC13A5c.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=)
17g.6695842G>TCA497596308SLC13A5c.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
17g.6695843G>ACA397744480SLC13A5c.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
17g.6695843G>CCA397744481SLC13A5c.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)
17g.6695843G>TCA397744482SLC13A5c.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)
17g.6695844A>CCA397744483SLC13A5c.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)
17g.6695844A>GCA397744485SLC13A5c.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)
17g.6695844A>TCA397744486SLC13A5c.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)
17g.6695845C>ACA397744488SLC13A5c.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)
17g.6695845C=CA2245487588SLC13A5c.936G= (p.Leu312=)
c.885G= (p.Leu295=)
c.807G= (p.Leu269=)
c.*686G= (n.*686G=)
n.45G=
n.2069G=
c.825G= (p.Leu275=)
17g.6695845C>GCA397744491SLC13A5c.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)
17g.6695845C>TCA287388178SLC13A5c.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
17g.6695846A>CCA397744495SLC13A5c.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)
17g.6695846A>GCA397744497SLC13A5c.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
17g.6695846A>TCA397744500SLC13A5c.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)
17g.6695847A>CCA397744510SLC13A5c.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)
17g.6695847A>GCA497596311SLC13A5c.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=)
17g.6695847A>TCA397744512SLC13A5c.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)
17g.6695848G>ACA497596312SLC13A5c.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
17g.6695848G>CCA497596314SLC13A5c.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=)
17g.6695848G=CA2245487589SLC13A5c.933C= (p.Pro311=)
c.882C= (p.Pro294=)
c.804C= (p.Pro268=)
c.*683C= (n.*683C=)
n.42C=
n.2066C=
c.822C= (p.Pro274=)
17g.6695848G>TCA497596313SLC13A5c.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
17g.6695849G>ACA397744516SLC13A5c.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)
17g.6695849G>CCA397744526SLC13A5c.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)
17g.6695849G>TCA397744528SLC13A5c.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)
17g.6695850G>ACA8331568SLC13A5c.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
17g.6695850G>CCA397744532SLC13A5c.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)
17g.6695850G=CA2245487590SLC13A5c.931C= (p.Pro311=)
c.880C= (p.Pro294=)
c.802C= (p.Pro268=)
c.*681C= (n.*681C=)
n.40C=
n.2064C=
c.820C= (p.Pro274=)
17g.6695850G>TCA397744534SLC13A5c.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
17g.6695850_6695851delinsGCCA2245487591SLC13A5c.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=)
17g.6695851C>ACA8331569SLC13A5c.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
17g.6695851C=CA2245487592SLC13A5c.930G= (p.Gly310=)
c.879G= (p.Gly293=)
c.801G= (p.Gly267=)
c.*680G= (n.*680G=)
n.39G=
n.2063G=
c.819G= (p.Gly273=)
17g.6695851C>GCA497596315SLC13A5c.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=)
17g.6695851C>TCA497596316SLC13A5c.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
17g.6695854delCA1139665098SLC13A5c.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
17g.6695852C>ACA397744544SLC13A5c.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)
17g.6695852C=CA2245487593SLC13A5c.929G= (p.Gly310=)
c.878G= (p.Gly293=)
c.800G= (p.Gly267=)
c.*679G= (n.*679G=)
n.38G=
n.2062G=
c.818G= (p.Gly273=)
17g.6695852C>GCA397744536SLC13A5c.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)
17g.6695852C>TCA397744538SLC13A5c.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
17g.6695853C>ACA397744547SLC13A5c.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)
17g.6695853C>GCA397744549SLC13A5c.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
17g.6695853C>TCA397744555SLC13A5c.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)
17g.6695854C>ACA497596317SLC13A5c.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=)
17g.6695854C=CA2245487594SLC13A5c.927G= (p.Leu309=)
c.876G= (p.Leu292=)
c.798G= (p.Leu266=)
c.*677G= (n.*677G=)
n.36G=
n.2060G=
c.816G= (p.Leu272=)
17g.6695854C>GCA497596318SLC13A5c.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=)
17g.6695854C>TCA8331570SLC13A5c.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
17g.6695855A>CCA397744560SLC13A5c.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)
17g.6695855A>GCA397744565SLC13A5c.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)
17g.6695855A>TCA397744568SLC13A5c.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)
17g.6695856G>ACA497596319SLC13A5c.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
17g.6695856G>CCA397744570SLC13A5c.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)
17g.6695856G=CA2245487595SLC13A5c.925C= (p.Leu309=)
c.874C= (p.Leu292=)
c.796C= (p.Leu266=)
c.*675C= (n.*675C=)
n.34C=
n.2058C=
c.814C= (p.Leu272=)
17g.6695856G>TCA397744573SLC13A5c.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)
17g.6695857C>ACA397744575SLC13A5c.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)
17g.6695857C=CA2245487596SLC13A5c.924G= (p.Lys308=)
c.873G= (p.Lys291=)
c.795G= (p.Lys265=)
c.*674G= (n.*674G=)
n.33G=
n.2057G=
c.813G= (p.Lys271=)
17g.6695857C>GCA397744577SLC13A5c.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)
17g.6695857C>TCA497596320SLC13A5c.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=)
17g.6695858T>ACA397744583SLC13A5c.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)
17g.6695858T>CCA397744581SLC13A5c.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)
17g.6695858T>GCA397744579SLC13A5c.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)
17g.6695859dupCA287388187SLC13A5c.923dup (p.Leu309AlafsTer?)
c.872dup (p.Leu292AlafsTer?)
c.794dup (p.Leu266AlafsTer?)
c.*673dup (n.*673dup)
n.32dup
n.2056dup
c.812dup (p.Leu272AlafsTer?)
 dbSNP
17g.6695859T>ACA397744585SLC13A5c.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)
17g.6695859T>CCA397744587SLC13A5c.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)
17g.6695859T>GCA397744590SLC13A5c.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)
17g.6695860C>ACA497596321SLC13A5c.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=)
17g.6695860C>GCA497596323SLC13A5c.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=)
17g.6695860C>TCA497596322SLC13A5c.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=)
17g.6695861C>ACA397744592SLC13A5c.920G>T (p.Arg307Leu)
c.869G>T (p.Arg290Leu)
c.791G>T (p.Arg264Leu)
c.*670G>T (n.*670G>T)
n.29G>T
n.2053G>T
c.809G>T (p.Arg270Leu)
17g.6695861C=CA2245487597SLC13A5c.920G= (p.Arg307=)
c.869G= (p.Arg290=)
c.791G= (p.Arg264=)
c.*670G= (n.*670G=)
n.29G=
n.2053G=
c.809G= (p.Arg270=)
17g.6695861C>GCA397744594SLC13A5c.920G>C (p.Arg307Pro)
c.869G>C (p.Arg290Pro)
c.791G>C (p.Arg264Pro)
c.*670G>C (n.*670G>C)
n.29G>C
n.2053G>C
c.809G>C (p.Arg270Pro)
17g.6695861C>TCA8331571SLC13A5c.920G>A (p.Arg307Gln)
c.869G>A (p.Arg290Gln)
c.791G>A (p.Arg264Gln)
c.*670G>A (n.*670G>A)
n.29G>A
n.2053G>A
c.809G>A (p.Arg270Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6695862G>ACA8331572SLC13A5c.919C>T (p.Arg307Trp)
c.868C>T (p.Arg290Trp)
c.790C>T (p.Arg264Trp)
c.*669C>T (n.*669C>T)
n.28C>T
n.2052C>T
c.808C>T (p.Arg270Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6695862G>CCA287388193SLC13A5c.919C>G (p.Arg307Gly)
c.868C>G (p.Arg290Gly)
c.790C>G (p.Arg264Gly)
c.*669C>G (n.*669C>G)
n.28C>G
n.2052C>G
c.808C>G (p.Arg270Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.6695862G=CA2245487598SLC13A5c.919C= (p.Arg307=)
c.868C= (p.Arg290=)
c.790C= (p.Arg264=)
c.*669C= (n.*669C=)
n.28C=
n.2052C=
c.808C= (p.Arg270=)
17g.6695862G>TCA497596324SLC13A5c.919C>A (p.Arg307=)
c.868C>A (p.Arg290=)
c.790C>A (p.Arg264=)
c.*669C>A (n.*669C>A)
n.28C>A
n.2052C>A
c.808C>A (p.Arg270=)
17g.6695863G>ACA497596325SLC13A5c.918C>T (p.Tyr306=)
c.867C>T (p.Tyr289=)
c.789C>T (p.Tyr263=)
c.*668C>T (n.*668C>T)
n.27C>T
n.2051C>T
c.807C>T (p.Tyr269=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.6695863G>CCA397744602SLC13A5c.918C>G (p.Tyr306Ter)
c.867C>G (p.Tyr289Ter)
c.789C>G (p.Tyr263Ter)
c.*668C>G (n.*668C>G)
n.27C>G
n.2051C>G
c.807C>G (p.Tyr269Ter)
17g.6695863G=CA2245487599SLC13A5c.918C= (p.Tyr306=)
c.867C= (p.Tyr289=)
c.789C= (p.Tyr263=)
c.*668C= (n.*668C=)
n.27C=
n.2051C=
c.807C= (p.Tyr269=)
17g.6695863G>TCA397744604SLC13A5c.918C>A (p.Tyr306Ter)
c.867C>A (p.Tyr289Ter)
c.789C>A (p.Tyr263Ter)
c.*668C>A (n.*668C>A)
n.27C>A
n.2051C>A
c.807C>A (p.Tyr269Ter)
17g.6695864T>ACA397744608SLC13A5c.917A>T (p.Tyr306Phe)
c.866A>T (p.Tyr289Phe)
c.788A>T (p.Tyr263Phe)
c.*667A>T (n.*667A>T)
n.26A>T
n.2050A>T
c.806A>T (p.Tyr269Phe)
17g.6695864T>CCA397744610SLC13A5c.917A>G (p.Tyr306Cys)
c.866A>G (p.Tyr289Cys)
c.788A>G (p.Tyr263Cys)
c.*667A>G (n.*667A>G)
n.26A>G
n.2050A>G
c.806A>G (p.Tyr269Cys)
17g.6695864T>GCA397744611SLC13A5c.917A>C (p.Tyr306Ser)
c.866A>C (p.Tyr289Ser)
c.788A>C (p.Tyr263Ser)
c.*667A>C (n.*667A>C)
n.26A>C
n.2050A>C
c.806A>C (p.Tyr269Ser)
17g.6695865A>CCA397744615SLC13A5c.916T>G (p.Tyr306Asp)
c.865T>G (p.Tyr289Asp)
c.787T>G (p.Tyr263Asp)
c.*666T>G (n.*666T>G)
n.25T>G
n.2049T>G
c.805T>G (p.Tyr269Asp)
 gnomAD v4
17g.6695865A>GCA397744614SLC13A5c.916T>C (p.Tyr306His)
c.865T>C (p.Tyr289His)
c.787T>C (p.Tyr263His)
c.*666T>C (n.*666T>C)
n.25T>C
n.2049T>C
c.805T>C (p.Tyr269His)
17g.6695865A>TCA397744613SLC13A5c.916T>A (p.Tyr306Asn)
c.865T>A (p.Tyr289Asn)
c.787T>A (p.Tyr263Asn)
c.*666T>A (n.*666T>A)
n.25T>A
n.2049T>A
c.805T>A (p.Tyr269Asn)
17g.6695866_6695885dupCA2635728295SLC13A5c.897_916dup (p.Tyr306SerfsTer22)
c.846_865dup (p.Tyr289SerfsTer22)
c.768_787dup (p.Tyr263SerfsTer22)
c.*647_*666dup (n.*647_*666dup)
n.6_25dup
n.2030_2049dup
c.786_805dup (p.Tyr269SerfsTer22)
 gnomAD v4
17g.6695866C>ACA397744616SLC13A5c.915G>T (p.Glu305Asp)
c.864G>T (p.Glu288Asp)
c.786G>T (p.Glu262Asp)
c.*665G>T (n.*665G>T)
n.24G>T
n.2048G>T
c.804G>T (p.Glu268Asp)
17g.6695866C>GCA397744617SLC13A5c.915G>C (p.Glu305Asp)
c.864G>C (p.Glu288Asp)
c.786G>C (p.Glu262Asp)
c.*665G>C (n.*665G>C)
n.24G>C
n.2048G>C
c.804G>C (p.Glu268Asp)
 gnomAD v4
17g.6695866C>TCA497596326SLC13A5c.915G>A (p.Glu305=)
c.864G>A (p.Glu288=)
c.786G>A (p.Glu262=)
c.*665G>A (n.*665G>A)
n.24G>A
n.2048G>A
c.804G>A (p.Glu268=)
 gnomAD v4
17g.6695867T>ACA397744620SLC13A5c.914A>T (p.Glu305Val)
c.863A>T (p.Glu288Val)
c.785A>T (p.Glu262Val)
c.*664A>T (n.*664A>T)
n.23A>T
n.2047A>T
c.803A>T (p.Glu268Val)
 COSMIC
17g.6695867T>CCA397744622SLC13A5c.914A>G (p.Glu305Gly)
c.863A>G (p.Glu288Gly)
c.785A>G (p.Glu262Gly)
c.*664A>G (n.*664A>G)
n.23A>G
n.2047A>G
c.803A>G (p.Glu268Gly)
17g.6695867T>GCA397744624SLC13A5c.914A>C (p.Glu305Ala)
c.863A>C (p.Glu288Ala)
c.785A>C (p.Glu262Ala)
c.*664A>C (n.*664A>C)
n.23A>C
n.2047A>C
c.803A>C (p.Glu268Ala)
17g.6695868C>ACA397744626SLC13A5c.913G>T (p.Glu305Ter)
c.862G>T (p.Glu288Ter)
c.784G>T (p.Glu262Ter)
c.*663G>T (n.*663G>T)
n.22G>T
n.2046G>T
c.802G>T (p.Glu268Ter)
17g.6695868C>GCA397744629SLC13A5c.913G>C (p.Glu305Gln)
c.862G>C (p.Glu288Gln)
c.784G>C (p.Glu262Gln)
c.*663G>C (n.*663G>C)
n.22G>C
n.2046G>C
c.802G>C (p.Glu268Gln)
17g.6695868C>TCA397744632SLC13A5c.913G>A (p.Glu305Lys)
c.862G>A (p.Glu288Lys)
c.784G>A (p.Glu262Lys)
c.*663G>A (n.*663G>A)
n.22G>A
n.2046G>A
c.802G>A (p.Glu268Lys)
 gnomAD v4 COSMIC
17g.6695869C>ACA397744636SLC13A5c.912G>T (p.Glu304Asp)
c.861G>T (p.Glu287Asp)
c.783G>T (p.Glu261Asp)
c.*662G>T (n.*662G>T)
n.21G>T
n.2045G>T
c.801G>T (p.Glu267Asp)
17g.6695869C>GCA397744638SLC13A5c.912G>C (p.Glu304Asp)
c.861G>C (p.Glu287Asp)
c.783G>C (p.Glu261Asp)
c.*662G>C (n.*662G>C)
n.21G>C
n.2045G>C
c.801G>C (p.Glu267Asp)
17g.6695869C>TCA497596327SLC13A5c.912G>A (p.Glu304=)
c.861G>A (p.Glu287=)
c.783G>A (p.Glu261=)
c.*662G>A (n.*662G>A)
n.21G>A
n.2045G>A
c.801G>A (p.Glu267=)
17g.6695870T>ACA397744641SLC13A5c.911A>T (p.Glu304Val)
c.860A>T (p.Glu287Val)
c.782A>T (p.Glu261Val)
c.*661A>T (n.*661A>T)
n.20A>T
n.2044A>T
c.800A>T (p.Glu267Val)
17g.6695870T>CCA397744644SLC13A5c.911A>G (p.Glu304Gly)
c.860A>G (p.Glu287Gly)
c.782A>G (p.Glu261Gly)
c.*661A>G (n.*661A>G)
n.20A>G
n.2044A>G
c.800A>G (p.Glu267Gly)
17g.6695870T>GCA397744647SLC13A5c.911A>C (p.Glu304Ala)
c.860A>C (p.Glu287Ala)
c.782A>C (p.Glu261Ala)
c.*661A>C (n.*661A>C)
n.20A>C
n.2044A>C
c.800A>C (p.Glu267Ala)
17g.6695871C>ACA397744651SLC13A5c.910G>T (p.Glu304Ter)
c.859G>T (p.Glu287Ter)
c.781G>T (p.Glu261Ter)
c.*660G>T (n.*660G>T)
n.19G>T
n.2043G>T
c.799G>T (p.Glu267Ter)
17g.6695871C>GCA397744657SLC13A5c.910G>C (p.Glu304Gln)
c.859G>C (p.Glu287Gln)
c.781G>C (p.Glu261Gln)
c.*660G>C (n.*660G>C)
n.19G>C
n.2043G>C
c.799G>C (p.Glu267Gln)
17g.6695871C>TCA397744650SLC13A5c.910G>A (p.Glu304Lys)
c.859G>A (p.Glu287Lys)
c.781G>A (p.Glu261Lys)
c.*660G>A (n.*660G>A)
n.19G>A
n.2043G>A
c.799G>A (p.Glu267Lys)
17g.6695872C>ACA397744660SLC13A5c.909G>T (p.Gln303His)
c.858G>T (p.Gln286His)
c.780G>T (p.Gln260His)
c.*659G>T (n.*659G>T)
n.18G>T
n.2042G>T
c.798G>T (p.Gln266His)
17g.6695872C>GCA397744663SLC13A5c.909G>C (p.Gln303His)
c.858G>C (p.Gln286His)
c.780G>C (p.Gln260His)
c.*659G>C (n.*659G>C)
n.18G>C
n.2042G>C
c.798G>C (p.Gln266His)
17g.6695872C>TCA497596328SLC13A5c.909G>A (p.Gln303=)
c.858G>A (p.Gln286=)
c.780G>A (p.Gln260=)
c.*659G>A (n.*659G>A)
n.18G>A
n.2042G>A
c.798G>A (p.Gln266=)
17g.6695873T>ACA397744667SLC13A5c.908A>T (p.Gln303Leu)
c.857A>T (p.Gln286Leu)
c.779A>T (p.Gln260Leu)
c.*658A>T (n.*658A>T)
n.17A>T
n.2041A>T
c.797A>T (p.Gln266Leu)
17g.6695873T>CCA397744668SLC13A5c.908A>G (p.Gln303Arg)
c.857A>G (p.Gln286Arg)
c.779A>G (p.Gln260Arg)
c.*658A>G (n.*658A>G)
n.17A>G
n.2041A>G
c.797A>G (p.Gln266Arg)
 dbSNP gnomAD v4
17g.6695873T>GCA397744669SLC13A5c.908A>C (p.Gln303Pro)
c.857A>C (p.Gln286Pro)
c.779A>C (p.Gln260Pro)
c.*658A>C (n.*658A>C)
n.17A>C
n.2041A>C
c.797A>C (p.Gln266Pro)
17g.6695873T=CA2245487600SLC13A5c.908A= (p.Gln303=)
c.857A= (p.Gln286=)
c.779A= (p.Gln260=)
c.*658A= (n.*658A=)
n.17A=
n.2041A=
c.797A= (p.Gln266=)
17g.6695874G>ACA397744671SLC13A5c.907C>T (p.Gln303Ter)
c.856C>T (p.Gln286Ter)
c.778C>T (p.Gln260Ter)
c.*657C>T (n.*657C>T)
n.16C>T
n.2040C>T
c.796C>T (p.Gln266Ter)
 gnomAD v4
17g.6695874G>CCA397744673SLC13A5c.907C>G (p.Gln303Glu)
c.856C>G (p.Gln286Glu)
c.778C>G (p.Gln260Glu)
c.*657C>G (n.*657C>G)
n.16C>G
n.2040C>G
c.796C>G (p.Gln266Glu)
17g.6695874G=CA2245487601SLC13A5c.907C= (p.Gln303=)
c.856C= (p.Gln286=)
c.778C= (p.Gln260=)
c.*657C= (n.*657C=)
n.16C=
n.2040C=
c.796C= (p.Gln266=)
17g.6695874G>TCA8331573SLC13A5c.907C>A (p.Gln303Lys)
c.856C>A (p.Gln286Lys)
c.778C>A (p.Gln260Lys)
c.*657C>A (n.*657C>A)
n.16C>A
n.2040C>A
c.796C>A (p.Gln266Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6695875C>ACA497596329SLC13A5c.906G>T (p.Leu302=)
c.855G>T (p.Leu285=)
c.777G>T (p.Leu259=)
c.*656G>T (n.*656G>T)
n.15G>T
n.2039G>T
c.795G>T (p.Leu265=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.6695875C=CA2245487602SLC13A5c.906G= (p.Leu302=)
c.855G= (p.Leu285=)
c.777G= (p.Leu259=)
c.*656G= (n.*656G=)
n.15G=
n.2039G=
c.795G= (p.Leu265=)
17g.6695875C>GCA497596330SLC13A5c.906G>C (p.Leu302=)
c.855G>C (p.Leu285=)
c.777G>C (p.Leu259=)
c.*656G>C (n.*656G>C)
n.15G>C
n.2039G>C
c.795G>C (p.Leu265=)
17g.6695875C>TCA497596331SLC13A5c.906G>A (p.Leu302=)
c.855G>A (p.Leu285=)
c.777G>A (p.Leu259=)
c.*656G>A (n.*656G>A)
n.15G>A
n.2039G>A
c.795G>A (p.Leu265=)
 dbSNP gnomAD v3 gnomAD v4
17g.6695876A=CA2245487603SLC13A5c.905T= (p.Leu302=)
c.854T= (p.Leu285=)
c.776T= (p.Leu259=)
c.*655T= (n.*655T=)
n.14T=
n.2038T=
c.794T= (p.Leu265=)
17g.6695876A>CCA397744680SLC13A5c.905T>G (p.Leu302Arg)
c.854T>G (p.Leu285Arg)
c.776T>G (p.Leu259Arg)
c.*655T>G (n.*655T>G)
n.14T>G
n.2038T>G
c.794T>G (p.Leu265Arg)
17g.6695876A>GCA397744682SLC13A5c.905T>C (p.Leu302Pro)
c.854T>C (p.Leu285Pro)
c.776T>C (p.Leu259Pro)
c.*655T>C (n.*655T>C)
n.14T>C
n.2038T>C
c.794T>C (p.Leu265Pro)
 dbSNP gnomAD v2 gnomAD v4
17g.6695876A>TCA397744686SLC13A5c.905T>A (p.Leu302Gln)
c.854T>A (p.Leu285Gln)
c.776T>A (p.Leu259Gln)
c.*655T>A (n.*655T>A)
n.14T>A
n.2038T>A
c.794T>A (p.Leu265Gln)
17g.6695877G>ACA497596332SLC13A5c.904C>T (p.Leu302=)
c.853C>T (p.Leu285=)
c.775C>T (p.Leu259=)
c.*654C>T (n.*654C>T)
n.13C>T
n.2037C>T
c.793C>T (p.Leu265=)
17g.6695877G>CCA397744689SLC13A5c.904C>G (p.Leu302Val)
c.853C>G (p.Leu285Val)
c.775C>G (p.Leu259Val)
c.*654C>G (n.*654C>G)
n.13C>G
n.2037C>G
c.793C>G (p.Leu265Val)
17g.6695877G>TCA397744692SLC13A5c.904C>A (p.Leu302Met)
c.853C>A (p.Leu285Met)
c.775C>A (p.Leu259Met)
c.*654C>A (n.*654C>A)
n.13C>A
n.2037C>A
c.793C>A (p.Leu265Met)
17g.6695878C>ACA497596333SLC13A5c.903G>T (p.Val301=)
c.852G>T (p.Val284=)
c.774G>T (p.Val258=)
c.*653G>T (n.*653G>T)
n.12G>T
n.2036G>T
c.792G>T (p.Val264=)
17g.6695878C=CA2245487604SLC13A5c.903G= (p.Val301=)
c.852G= (p.Val284=)
c.774G= (p.Val258=)
c.*653G= (n.*653G=)
n.12G=
n.2036G=
c.792G= (p.Val264=)
17g.6695878C>GCA497596334SLC13A5c.903G>C (p.Val301=)
c.852G>C (p.Val284=)
c.774G>C (p.Val258=)
c.*653G>C (n.*653G>C)
n.12G>C
n.2036G>C
c.792G>C (p.Val264=)
17g.6695878C>TCA497596335SLC13A5c.903G>A (p.Val301=)
c.852G>A (p.Val284=)
c.774G>A (p.Val258=)
c.*653G>A (n.*653G>A)
n.12G>A
n.2036G>A
c.792G>A (p.Val264=)
 ClinVar dbSNP
17g.6695879A>CCA397744697SLC13A5c.902T>G (p.Val301Gly)
c.851T>G (p.Val284Gly)
c.773T>G (p.Val258Gly)
c.*652T>G (n.*652T>G)
n.11T>G
n.2035T>G
c.791T>G (p.Val264Gly)
 gnomAD v4
17g.6695879A>GCA397744705SLC13A5c.902T>C (p.Val301Ala)
c.851T>C (p.Val284Ala)
c.773T>C (p.Val258Ala)
c.*652T>C (n.*652T>C)
n.11T>C
n.2035T>C
c.791T>C (p.Val264Ala)
17g.6695879A>TCA397744700SLC13A5c.902T>A (p.Val301Glu)
c.851T>A (p.Val284Glu)
c.773T>A (p.Val258Glu)
c.*652T>A (n.*652T>A)
n.11T>A
n.2035T>A
c.791T>A (p.Val264Glu)
17g.6695880C>ACA397744710SLC13A5c.901G>T (p.Val301Leu)
c.850G>T (p.Val284Leu)
c.772G>T (p.Val258Leu)
c.*651G>T (n.*651G>T)
n.10G>T
n.2034G>T
c.790G>T (p.Val264Leu)
17g.6695880C=CA2245487605SLC13A5c.901G= (p.Val301=)
c.850G= (p.Val284=)
c.772G= (p.Val258=)
c.*651G= (n.*651G=)
n.10G=
n.2034G=
c.790G= (p.Val264=)
17g.6695880C>GCA397744711SLC13A5c.901G>C (p.Val301Leu)
c.850G>C (p.Val284Leu)
c.772G>C (p.Val258Leu)
c.*651G>C (n.*651G>C)
n.10G>C
n.2034G>C
c.790G>C (p.Val264Leu)
 dbSNP
17g.6695880C>TCA397744714SLC13A5c.901G>A (p.Val301Met)
c.850G>A (p.Val284Met)
c.772G>A (p.Val258Met)
c.*651G>A (n.*651G>A)
n.10G>A
n.2034G>A
c.790G>A (p.Val264Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.6695881C>ACA397744716SLC13A5c.900G>T (p.Lys300Asn)
c.849G>T (p.Lys283Asn)
c.771G>T (p.Lys257Asn)
c.*650G>T (n.*650G>T)
n.9G>T
n.2033G>T
c.789G>T (p.Lys263Asn)
17g.6695881C=CA2245487606SLC13A5c.900G= (p.Lys300=)
c.849G= (p.Lys283=)
c.771G= (p.Lys257=)
c.*650G= (n.*650G=)
n.9G=
n.2033G=
c.789G= (p.Lys263=)
17g.6695881C>GCA397744718SLC13A5c.900G>C (p.Lys300Asn)
c.849G>C (p.Lys283Asn)
c.771G>C (p.Lys257Asn)
c.*650G>C (n.*650G>C)
n.9G>C
n.2033G>C
c.789G>C (p.Lys263Asn)
17g.6695881C>TCA497596336SLC13A5c.900G>A (p.Lys300=)
c.849G>A (p.Lys283=)
c.771G>A (p.Lys257=)
c.*650G>A (n.*650G>A)
n.9G>A
n.2033G>A
c.789G>A (p.Lys263=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.6695882T>ACA397744720SLC13A5c.899A>T (p.Lys300Met)
c.848A>T (p.Lys283Met)
c.770A>T (p.Lys257Met)
c.*649A>T (n.*649A>T)
n.8A>T
n.2032A>T
c.788A>T (p.Lys263Met)
17g.6695882T>CCA397744723SLC13A5c.899A>G (p.Lys300Arg)
c.848A>G (p.Lys283Arg)
c.770A>G (p.Lys257Arg)
c.*649A>G (n.*649A>G)
n.8A>G
n.2032A>G
c.788A>G (p.Lys263Arg)
 gnomAD v4
17g.6695882T>GCA397744725SLC13A5c.899A>C (p.Lys300Thr)
c.848A>C (p.Lys283Thr)
c.770A>C (p.Lys257Thr)
c.*649A>C (n.*649A>C)
n.8A>C
n.2032A>C
c.788A>C (p.Lys263Thr)
17g.6695883T>ACA397744727SLC13A5c.898A>T (p.Lys300Ter)
c.847A>T (p.Lys283Ter)
c.769A>T (p.Lys257Ter)
c.*648A>T (n.*648A>T)
n.7A>T
n.2031A>T
c.787A>T (p.Lys263Ter)
17g.6695883T>CCA397744728SLC13A5c.898A>G (p.Lys300Glu)
c.847A>G (p.Lys283Glu)
c.769A>G (p.Lys257Glu)
c.*648A>G (n.*648A>G)
n.7A>G
n.2031A>G
c.787A>G (p.Lys263Glu)
17g.6695883T>GCA397744729SLC13A5c.898A>C (p.Lys300Gln)
c.847A>C (p.Lys283Gln)
c.769A>C (p.Lys257Gln)
c.*648A>C (n.*648A>C)
n.7A>C
n.2031A>C
c.787A>C (p.Lys263Gln)
17g.6695884G>ACA497596337SLC13A5c.897C>T (p.Leu299=)
c.846C>T (p.Leu282=)
c.768C>T (p.Leu256=)
c.*647C>T (n.*647C>T)
n.6C>T
n.2030C>T
c.786C>T (p.Leu262=)
17g.6695884G>CCA497596338SLC13A5c.897C>G (p.Leu299=)
c.846C>G (p.Leu282=)
c.768C>G (p.Leu256=)
c.*647C>G (n.*647C>G)
n.6C>G
n.2030C>G
c.786C>G (p.Leu262=)
17g.6695884G=CA2245487607SLC13A5c.897C= (p.Leu299=)
c.846C= (p.Leu282=)
c.768C= (p.Leu256=)
c.*647C= (n.*647C=)
n.6C=
n.2030C=
c.786C= (p.Leu262=)
17g.6695884G>TCA497596339SLC13A5c.897C>A (p.Leu299=)
c.846C>A (p.Leu282=)
c.768C>A (p.Leu256=)
c.*647C>A (n.*647C>A)
n.6C>A
n.2030C>A
c.786C>A (p.Leu262=)
 dbSNP gnomAD v3 gnomAD v4
17g.6695885A>CCA397744731SLC13A5c.896T>G (p.Leu299Arg)
c.845T>G (p.Leu282Arg)
c.767T>G (p.Leu256Arg)
c.*646T>G (n.*646T>G)
n.5T>G
n.2029T>G
c.785T>G (p.Leu262Arg)
17g.6695885A>GCA397744734SLC13A5c.896T>C (p.Leu299Pro)
c.845T>C (p.Leu282Pro)
c.767T>C (p.Leu256Pro)
c.*646T>C (n.*646T>C)
n.5T>C
n.2029T>C
c.785T>C (p.Leu262Pro)
17g.6695885A>TCA397744730SLC13A5c.896T>A (p.Leu299His)
c.845T>A (p.Leu282His)
c.767T>A (p.Leu256His)
c.*646T>A (n.*646T>A)
n.5T>A
n.2029T>A
c.785T>A (p.Leu262His)
17g.6695886G>ACA397744739SLC13A5c.895C>T (p.Leu299Phe)
c.844C>T (p.Leu282Phe)
c.766C>T (p.Leu256Phe)
c.*645C>T (n.*645C>T)
n.4C>T
n.2028C>T
c.784C>T (p.Leu262Phe)
17g.6695886G>CCA397744736SLC13A5c.895C>G (p.Leu299Val)
c.844C>G (p.Leu282Val)
c.766C>G (p.Leu256Val)
c.*645C>G (n.*645C>G)
n.4C>G
n.2028C>G
c.784C>G (p.Leu262Val)
17g.6695886G>TCA397744745SLC13A5c.895C>A (p.Leu299Ile)
c.844C>A (p.Leu282Ile)
c.766C>A (p.Leu256Ile)
c.*645C>A (n.*645C>A)
n.4C>A
n.2028C>A
c.784C>A (p.Leu262Ile)
17g.6695887G>ACA287388220SLC13A5c.894C>T (p.Ala298=)
c.843C>T (p.Ala281=)
c.765C>T (p.Ala255=)
c.*644C>T (n.*644C>T)
n.3C>T
n.2027C>T
c.783C>T (p.Ala261=)
 dbSNP gnomAD v3 gnomAD v4
17g.6695887G>CCA497596340SLC13A5c.894C>G (p.Ala298=)
c.843C>G (p.Ala281=)
c.765C>G (p.Ala255=)
c.*644C>G (n.*644C>G)
n.3C>G
n.2027C>G
c.783C>G (p.Ala261=)
17g.6695887G=CA2245487608SLC13A5c.894C= (p.Ala298=)
c.843C= (p.Ala281=)
c.765C= (p.Ala255=)
c.*644C= (n.*644C=)
n.3C=
n.2027C=
c.783C= (p.Ala261=)
17g.6695887G>TCA497596341SLC13A5c.894C>A (p.Ala298=)
c.843C>A (p.Ala281=)
c.765C>A (p.Ala255=)
c.*644C>A (n.*644C>A)
n.3C>A
n.2027C>A
c.783C>A (p.Ala261=)
17g.6695888G>ACA397744747SLC13A5c.893C>T (p.Ala298Val)
c.842C>T (p.Ala281Val)
c.764C>T (p.Ala255Val)
c.*643C>T (n.*643C>T)
n.2C>T
n.2026C>T
c.782C>T (p.Ala261Val)
 dbSNP
17g.6695888G>CCA397744750SLC13A5c.893C>G (p.Ala298Gly)
c.842C>G (p.Ala281Gly)
c.764C>G (p.Ala255Gly)
c.*643C>G (n.*643C>G)
n.2C>G
n.2026C>G
c.782C>G (p.Ala261Gly)
17g.6695888G>TCA397744749SLC13A5c.893C>A (p.Ala298Asp)
c.842C>A (p.Ala281Asp)
c.764C>A (p.Ala255Asp)
c.*643C>A (n.*643C>A)
n.2C>A
n.2026C>A
c.782C>A (p.Ala261Asp)
17g.6695889C>ACA397744752SLC13A5c.892G>T (p.Ala298Ser)
c.841G>T (p.Ala281Ser)
c.763G>T (p.Ala255Ser)
c.*642G>T (n.*642G>T)
n.1G>T
n.2025G>T
c.781G>T (p.Ala261Ser)
17g.6695889C>GCA397744754SLC13A5c.892G>C (p.Ala298Pro)
c.841G>C (p.Ala281Pro)
c.763G>C (p.Ala255Pro)
c.*642G>C (n.*642G>C)
n.1G>C
n.2025G>C
c.781G>C (p.Ala261Pro)
17g.6695889C>TCA397744757SLC13A5c.892G>A (p.Ala298Thr)
c.841G>A (p.Ala281Thr)
c.763G>A (p.Ala255Thr)
c.*642G>A (n.*642G>A)
n.1G>A
n.2025G>A
c.781G>A (p.Ala261Thr)
17g.6695890A>CCA497596344SLC13A5c.891T>G (p.Ala297=)
c.840T>G (p.Ala280=)
c.762T>G (p.Ala254=)
c.*641T>G (n.*641T>G)
n.2024T>G
c.780T>G (p.Ala260=)
17g.6695890A>GCA497596343SLC13A5c.891T>C (p.Ala297=)
c.840T>C (p.Ala280=)
c.762T>C (p.Ala254=)
c.*641T>C (n.*641T>C)
n.2024T>C
c.780T>C (p.Ala260=)
17g.6695890A>TCA497596342SLC13A5c.891T>A (p.Ala297=)
c.840T>A (p.Ala280=)
c.762T>A (p.Ala254=)
c.*641T>A (n.*641T>A)
n.2024T>A
c.780T>A (p.Ala260=)
17g.6695891G>ACA287388227SLC13A5c.890C>T (p.Ala297Val)
c.839C>T (p.Ala280Val)
c.761C>T (p.Ala254Val)
c.*640C>T (n.*640C>T)
n.2023C>T
c.779C>T (p.Ala260Val)
 dbSNP
17g.6695891G>CCA397744765SLC13A5c.890C>G (p.Ala297Gly)
c.839C>G (p.Ala280Gly)
c.761C>G (p.Ala254Gly)
c.*640C>G (n.*640C>G)
n.2023C>G
c.779C>G (p.Ala260Gly)
 gnomAD v4
17g.6695891G=CA2245487609SLC13A5c.890C= (p.Ala297=)
c.839C= (p.Ala280=)
c.761C= (p.Ala254=)
c.*640C= (n.*640C=)
n.2023C=
c.779C= (p.Ala260=)
17g.6695891G>TCA397744774SLC13A5c.890C>A (p.Ala297Asp)
c.839C>A (p.Ala280Asp)
c.761C>A (p.Ala254Asp)
c.*640C>A (n.*640C>A)
n.2023C>A
c.779C>A (p.Ala260Asp)
 COSMIC
17g.6695892C>ACA397744775SLC13A5c.889G>T (p.Ala297Ser)
c.838G>T (p.Ala280Ser)
c.760G>T (p.Ala254Ser)
c.*639G>T (n.*639G>T)
n.2022G>T
c.778G>T (p.Ala260Ser)
 gnomAD v4
17g.6695892C=CA2245487610SLC13A5c.889G= (p.Ala297=)
c.838G= (p.Ala280=)
c.760G= (p.Ala254=)
c.*639G= (n.*639G=)
n.2022G=
c.778G= (p.Ala260=)
17g.6695892C>GCA397744776SLC13A5c.889G>C (p.Ala297Pro)
c.838G>C (p.Ala280Pro)
c.760G>C (p.Ala254Pro)
c.*639G>C (n.*639G>C)
n.2022G>C
c.778G>C (p.Ala260Pro)
17g.6695892C>TCA16607815SLC13A5c.889G>A (p.Ala297Thr)
c.838G>A (p.Ala280Thr)
c.760G>A (p.Ala254Thr)
c.*639G>A (n.*639G>A)
n.2022G>A
c.778G>A (p.Ala260Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.6695893C>ACA397744777SLC13A5c.888G>T (p.Lys296Asn)
c.837G>T (p.Lys279Asn)
c.759G>T (p.Lys253Asn)
c.*638G>T (n.*638G>T)
n.2021G>T
c.777G>T (p.Lys259Asn)
 dbSNP gnomAD v2 gnomAD v4
17g.6695893C=CA2245487611SLC13A5c.888G= (p.Lys296=)
c.837G= (p.Lys279=)
c.759G= (p.Lys253=)
c.*638G= (n.*638G=)
n.2021G=
c.777G= (p.Lys259=)
17g.6695893C>GCA397744779SLC13A5c.888G>C (p.Lys296Asn)
c.837G>C (p.Lys279Asn)
c.759G>C (p.Lys253Asn)
c.*638G>C (n.*638G>C)
n.2021G>C
c.777G>C (p.Lys259Asn)
17g.6695893C>TCA497596345SLC13A5c.888G>A (p.Lys296=)
c.837G>A (p.Lys279=)
c.759G>A (p.Lys253=)
c.*638G>A (n.*638G>A)
n.2021G>A
c.777G>A (p.Lys259=)
 gnomAD v4
17g.6695894T>ACA397744792SLC13A5c.887A>T (p.Lys296Met)
c.836A>T (p.Lys279Met)
c.758A>T (p.Lys253Met)
c.*637A>T (n.*637A>T)
n.2020A>T
c.776A>T (p.Lys259Met)
17g.6695894T>CCA397744784SLC13A5c.887A>G (p.Lys296Arg)
c.836A>G (p.Lys279Arg)
c.758A>G (p.Lys253Arg)
c.*637A>G (n.*637A>G)
n.2020A>G
c.776A>G (p.Lys259Arg)
17g.6695894T>GCA397744782SLC13A5c.887A>C (p.Lys296Thr)
c.836A>C (p.Lys279Thr)
c.758A>C (p.Lys253Thr)
c.*637A>C (n.*637A>C)
n.2020A>C
c.776A>C (p.Lys259Thr)
17g.6695895T>ACA397744795SLC13A5c.886A>T (p.Lys296Ter)
c.835A>T (p.Lys279Ter)
c.757A>T (p.Lys253Ter)
c.*636A>T (n.*636A>T)
n.2019A>T
c.775A>T (p.Lys259Ter)
17g.6695895T>CCA397744798SLC13A5c.886A>G (p.Lys296Glu)
c.835A>G (p.Lys279Glu)
c.757A>G (p.Lys253Glu)
c.*636A>G (n.*636A>G)
n.2019A>G
c.775A>G (p.Lys259Glu)
17g.6695895T>GCA397744799SLC13A5c.886A>C (p.Lys296Gln)
c.835A>C (p.Lys279Gln)
c.757A>C (p.Lys253Gln)
c.*636A>C (n.*636A>C)
n.2019A>C
c.775A>C (p.Lys259Gln)
17g.6695896C>ACA397744800SLC13A5c.885G>T (p.Glu295Asp)
c.834G>T (p.Glu278Asp)
c.756G>T (p.Glu252Asp)
c.*635G>T (n.*635G>T)
n.2018G>T
c.774G>T (p.Glu258Asp)
17g.6695896C>GCA397744801SLC13A5c.885G>C (p.Glu295Asp)
c.834G>C (p.Glu278Asp)
c.756G>C (p.Glu252Asp)
c.*635G>C (n.*635G>C)
n.2018G>C
c.774G>C (p.Glu258Asp)
17g.6695896C>TCA497596346SLC13A5c.885G>A (p.Glu295=)
c.834G>A (p.Glu278=)
c.756G>A (p.Glu252=)
c.*635G>A (n.*635G>A)
n.2018G>A
c.774G>A (p.Glu258=)
 COSMIC
17g.6695897T>ACA397744802SLC13A5c.884A>T (p.Glu295Val)
c.833A>T (p.Glu278Val)
c.755A>T (p.Glu252Val)
c.*634A>T (n.*634A>T)
n.2017A>T
c.773A>T (p.Glu258Val)
17g.6695897T>CCA397744804SLC13A5c.884A>G (p.Glu295Gly)
c.833A>G (p.Glu278Gly)
c.755A>G (p.Glu252Gly)
c.*634A>G (n.*634A>G)
n.2017A>G
c.773A>G (p.Glu258Gly)
17g.6695897T>GCA397744811SLC13A5c.884A>C (p.Glu295Ala)
c.833A>C (p.Glu278Ala)
c.755A>C (p.Glu252Ala)
c.*634A>C (n.*634A>C)
n.2017A>C
c.773A>C (p.Glu258Ala)
 dbSNP gnomAD v2 gnomAD v4
17g.6695897T=CA2245487612SLC13A5c.884A= (p.Glu295=)
c.833A= (p.Glu278=)
c.755A= (p.Glu252=)
c.*634A= (n.*634A=)
n.2017A=
c.773A= (p.Glu258=)
17g.6695898C>ACA397744815SLC13A5c.883G>T (p.Glu295Ter)
c.832G>T (p.Glu278Ter)
c.754G>T (p.Glu252Ter)
c.*633G>T (n.*633G>T)
n.2016G>T
c.772G>T (p.Glu258Ter)
17g.6695898C=CA2245487613SLC13A5c.883G= (p.Glu295=)
c.832G= (p.Glu278=)
c.754G= (p.Glu252=)
c.*633G= (n.*633G=)
n.2016G=
c.772G= (p.Glu258=)
17g.6695898C>GCA8331575SLC13A5c.883G>C (p.Glu295Gln)
c.832G>C (p.Glu278Gln)
c.754G>C (p.Glu252Gln)
c.*633G>C (n.*633G>C)
n.2016G>C
c.772G>C (p.Glu258Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6695898C>TCA8331574SLC13A5c.883G>A (p.Glu295Lys)
c.832G>A (p.Glu278Lys)
c.754G>A (p.Glu252Lys)
c.*633G>A (n.*633G>A)
n.2016G>A
c.772G>A (p.Glu258Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6695899G>ACA8331576SLC13A5c.882C>T (p.Asn294=)
c.831C>T (p.Asn277=)
c.753C>T (p.Asn251=)
c.*632C>T (n.*632C>T)
n.2015C>T
c.771C>T (p.Asn257=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6695899G>CCA397744824SLC13A5c.882C>G (p.Asn294Lys)
c.831C>G (p.Asn277Lys)
c.753C>G (p.Asn251Lys)
c.*632C>G (n.*632C>G)
n.2015C>G
c.771C>G (p.Asn257Lys)
17g.6695899G=CA2245487614SLC13A5c.882C= (p.Asn294=)
c.831C= (p.Asn277=)
c.753C= (p.Asn251=)
c.*632C= (n.*632C=)
n.2015C=
c.771C= (p.Asn257=)
17g.6695899G>TCA397744821SLC13A5c.882C>A (p.Asn294Lys)
c.831C>A (p.Asn277Lys)
c.753C>A (p.Asn251Lys)
c.*632C>A (n.*632C>A)
n.2015C>A
c.771C>A (p.Asn257Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.6695900T>ACA397744828SLC13A5c.881A>T (p.Asn294Ile)
c.830A>T (p.Asn277Ile)
c.752A>T (p.Asn251Ile)
c.*631A>T (n.*631A>T)
n.2014A>T
c.770A>T (p.Asn257Ile)
17g.6695900T>CCA397744837SLC13A5c.881A>G (p.Asn294Ser)
c.830A>G (p.Asn277Ser)
c.752A>G (p.Asn251Ser)
c.*631A>G (n.*631A>G)
n.2014A>G
c.770A>G (p.Asn257Ser)
 dbSNP gnomAD v4
17g.6695900T>GCA397744843SLC13A5c.881A>C (p.Asn294Thr)
c.830A>C (p.Asn277Thr)
c.752A>C (p.Asn251Thr)
c.*631A>C (n.*631A>C)
n.2014A>C
c.770A>C (p.Asn257Thr)
17g.6695900T=CA2245487615SLC13A5c.881A= (p.Asn294=)
c.830A= (p.Asn277=)
c.752A= (p.Asn251=)
c.*631A= (n.*631A=)
n.2014A=
c.770A= (p.Asn257=)
17g.6695901T>ACA397744846SLC13A5c.880A>T (p.Asn294Tyr)
c.829A>T (p.Asn277Tyr)
c.751A>T (p.Asn251Tyr)
c.*630A>T (n.*630A>T)
n.2013A>T
c.769A>T (p.Asn257Tyr)
 gnomAD v4
17g.6695901T>CCA397744848SLC13A5c.880A>G (p.Asn294Asp)
c.829A>G (p.Asn277Asp)
c.751A>G (p.Asn251Asp)
c.*630A>G (n.*630A>G)
n.2013A>G
c.769A>G (p.Asn257Asp)
17g.6695901T>GCA397744850SLC13A5c.880A>C (p.Asn294His)
c.829A>C (p.Asn277His)
c.751A>C (p.Asn251His)
c.*630A>C (n.*630A>C)
n.2013A>C
c.769A>C (p.Asn257His)
17g.6695902T>ACA397744854SLC13A5c.879A>T (p.Lys293Asn)
c.828A>T (p.Lys276Asn)
c.750A>T (p.Lys250Asn)
c.*629A>T (n.*629A>T)
n.2012A>T
c.768A>T (p.Lys256Asn)
17g.6695902T>CCA497596347SLC13A5c.879A>G (p.Lys293=)
c.828A>G (p.Lys276=)
c.750A>G (p.Lys250=)
c.*629A>G (n.*629A>G)
n.2012A>G
c.768A>G (p.Lys256=)
17g.6695902T>GCA397744859SLC13A5c.879A>C (p.Lys293Asn)
c.828A>C (p.Lys276Asn)
c.750A>C (p.Lys250Asn)
c.*629A>C (n.*629A>C)
n.2012A>C
c.768A>C (p.Lys256Asn)
17g.6695903T>ACA397744863SLC13A5c.878A>T (p.Lys293Ile)
c.827A>T (p.Lys276Ile)
c.749A>T (p.Lys250Ile)
c.*628A>T (n.*628A>T)
n.2011A>T
c.767A>T (p.Lys256Ile)
17g.6695903T>CCA397744866SLC13A5c.878A>G (p.Lys293Arg)
c.827A>G (p.Lys276Arg)
c.749A>G (p.Lys250Arg)
c.*628A>G (n.*628A>G)
n.2011A>G
c.767A>G (p.Lys256Arg)
 COSMIC
17g.6695903T>GCA397744868SLC13A5c.878A>C (p.Lys293Thr)
c.827A>C (p.Lys276Thr)
c.749A>C (p.Lys250Thr)
c.*628A>C (n.*628A>C)
n.2011A>C
c.767A>C (p.Lys256Thr)
17g.6695904T>ACA397744873SLC13A5c.877A>T (p.Lys293Ter)
c.826A>T (p.Lys276Ter)
c.748A>T (p.Lys250Ter)
c.*627A>T (n.*627A>T)
n.2010A>T
c.766A>T (p.Lys256Ter)
17g.6695904T>CCA8331577SLC13A5c.877A>G (p.Lys293Glu)
c.826A>G (p.Lys276Glu)
c.748A>G (p.Lys250Glu)
c.*627A>G (n.*627A>G)
n.2010A>G
c.766A>G (p.Lys256Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6695904T>GCA397744878SLC13A5c.877A>C (p.Lys293Gln)
c.826A>C (p.Lys276Gln)
c.748A>C (p.Lys250Gln)
c.*627A>C (n.*627A>C)
n.2010A>C
c.766A>C (p.Lys256Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.6695904T=CA2245487616SLC13A5c.877A= (p.Lys293=)
c.826A= (p.Lys276=)
c.748A= (p.Lys250=)
c.*627A= (n.*627A=)
n.2010A=
c.766A= (p.Lys256=)
17g.6695905C>ACA397744884SLC13A5c.876G>T (p.Lys292Asn)
c.825G>T (p.Lys275Asn)
c.747G>T (p.Lys249Asn)
c.*626G>T (n.*626G>T)
n.2009G>T
c.765G>T (p.Lys255Asn)
 COSMIC
17g.6695905C=CA2245487617SLC13A5c.876G= (p.Lys292=)
c.825G= (p.Lys275=)
c.747G= (p.Lys249=)
c.*626G= (n.*626G=)
n.2009G=
c.765G= (p.Lys255=)
17g.6695905C>GCA397744890SLC13A5c.876G>C (p.Lys292Asn)
c.825G>C (p.Lys275Asn)
c.747G>C (p.Lys249Asn)
c.*626G>C (n.*626G>C)
n.2009G>C
c.765G>C (p.Lys255Asn)
 gnomAD v4
17g.6695905C>TCA497596348SLC13A5c.876G>A (p.Lys292=)
c.825G>A (p.Lys275=)
c.747G>A (p.Lys249=)
c.*626G>A (n.*626G>A)
n.2009G>A
c.765G>A (p.Lys255=)
 dbSNP gnomAD v4
17g.6695906T>ACA397744893SLC13A5c.875A>T (p.Lys292Met)
c.824A>T (p.Lys275Met)
c.746A>T (p.Lys249Met)
c.*625A>T (n.*625A>T)
n.2008A>T
c.764A>T (p.Lys255Met)
17g.6695906T>CCA397744901SLC13A5c.875A>G (p.Lys292Arg)
c.824A>G (p.Lys275Arg)
c.746A>G (p.Lys249Arg)
c.*625A>G (n.*625A>G)
n.2008A>G
c.764A>G (p.Lys255Arg)
 dbSNP
17g.6695906T>GCA397744904SLC13A5c.875A>C (p.Lys292Thr)
c.824A>C (p.Lys275Thr)
c.746A>C (p.Lys249Thr)
c.*625A>C (n.*625A>C)
n.2008A>C
c.764A>C (p.Lys255Thr)
17g.6695906T=CA2245487618SLC13A5c.875A= (p.Lys292=)
c.824A= (p.Lys275=)
c.746A= (p.Lys249=)
c.*625A= (n.*625A=)
n.2008A=
c.764A= (p.Lys255=)
17g.6695907T>ACA397744906SLC13A5c.874A>T (p.Lys292Ter)
c.823A>T (p.Lys275Ter)
c.745A>T (p.Lys249Ter)
c.*624A>T (n.*624A>T)
n.2007A>T
c.763A>T (p.Lys255Ter)
17g.6695907T>CCA397744908SLC13A5c.874A>G (p.Lys292Glu)
c.823A>G (p.Lys275Glu)
c.745A>G (p.Lys249Glu)
c.*624A>G (n.*624A>G)
n.2007A>G
c.763A>G (p.Lys255Glu)
17g.6695907T>GCA397744910SLC13A5c.874A>C (p.Lys292Gln)
c.823A>C (p.Lys275Gln)
c.745A>C (p.Lys249Gln)
c.*624A>C (n.*624A>C)
n.2007A>C
c.763A>C (p.Lys255Gln)
 dbSNP gnomAD v4
17g.6695907T=CA2245487620SLC13A5c.874A= (p.Lys292=)
c.823A= (p.Lys275=)
c.745A= (p.Lys249=)
c.*624A= (n.*624A=)
n.2007A=
c.763A= (p.Lys255=)
17g.6695907_6695908delinsTGCA2245487619SLC13A5c.873_874delinsCA (p.Ser291=)
c.822_823delinsCA (p.Ser274=)
c.744_745delinsCA (p.Ser248=)
c.*623_*624delinsCA (n.*623_*624delinsCA)
n.2006_2007delinsCA
c.762_763delinsCA (p.Ser254=)
17g.6695908delCA774271617SLC13A5c.873del (p.Ser291ArgfsTer30)
c.822del (p.Ser274ArgfsTer30)
c.744del (p.Ser248ArgfsTer30)
c.*623del (n.*623del)
n.2006del
c.762del (p.Ser254ArgfsTer30)
 dbSNP gnomAD v3 gnomAD v4
17g.6695908G>ACA8331578SLC13A5c.873C>T (p.Ser291=)
c.822C>T (p.Ser274=)
c.744C>T (p.Ser248=)
c.*623C>T (n.*623C>T)
n.2006C>T
c.762C>T (p.Ser254=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6695908G>CCA397744916SLC13A5c.873C>G (p.Ser291Arg)
c.822C>G (p.Ser274Arg)
c.744C>G (p.Ser248Arg)
c.*623C>G (n.*623C>G)
n.2006C>G
c.762C>G (p.Ser254Arg)
17g.6695908G=CA2245487621SLC13A5c.873C= (p.Ser291=)
c.822C= (p.Ser274=)
c.744C= (p.Ser248=)
c.*623C= (n.*623C=)
n.2006C=
c.762C= (p.Ser254=)
17g.6695908G>TCA397744918SLC13A5c.873C>A (p.Ser291Arg)
c.822C>A (p.Ser274Arg)
c.744C>A (p.Ser248Arg)
c.*623C>A (n.*623C>A)
n.2006C>A
c.762C>A (p.Ser254Arg)
17g.6695909C>ACA397744925SLC13A5c.872G>T (p.Ser291Ile)
c.821G>T (p.Ser274Ile)
c.743G>T (p.Ser248Ile)
c.*622G>T (n.*622G>T)
n.2005G>T
c.761G>T (p.Ser254Ile)
17g.6695909C>GCA397744928SLC13A5c.872G>C (p.Ser291Thr)
c.821G>C (p.Ser274Thr)
c.743G>C (p.Ser248Thr)
c.*622G>C (n.*622G>C)
n.2005G>C
c.761G>C (p.Ser254Thr)
17g.6695909C>TCA397744933SLC13A5c.872G>A (p.Ser291Asn)
c.821G>A (p.Ser274Asn)
c.743G>A (p.Ser248Asn)
c.*622G>A (n.*622G>A)
n.2005G>A
c.761G>A (p.Ser254Asn)
 ClinVar gnomAD v4
17g.6695910T>ACA8331579SLC13A5c.871A>T (p.Ser291Cys)
c.820A>T (p.Ser274Cys)
c.742A>T (p.Ser248Cys)
c.*621A>T (n.*621A>T)
n.2004A>T
c.760A>T (p.Ser254Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6695910T>CCA397744941SLC13A5c.871A>G (p.Ser291Gly)
c.820A>G (p.Ser274Gly)
c.742A>G (p.Ser248Gly)
c.*621A>G (n.*621A>G)
n.2004A>G
c.760A>G (p.Ser254Gly)
 dbSNP gnomAD v2 gnomAD v4
17g.6695910T>GCA397744937SLC13A5c.871A>C (p.Ser291Arg)
c.820A>C (p.Ser274Arg)
c.742A>C (p.Ser248Arg)
c.*621A>C (n.*621A>C)
n.2004A>C
c.760A>C (p.Ser254Arg)
17g.6695910T=CA2245487622SLC13A5c.871A= (p.Ser291=)
c.820A= (p.Ser274=)
c.742A= (p.Ser248=)
c.*621A= (n.*621A=)
n.2004A=
c.760A= (p.Ser254=)
17g.6695911C>ACA397744948SLC13A5c.870G>T (p.Glu290Asp)
c.819G>T (p.Glu273Asp)
c.741G>T (p.Glu247Asp)
c.*620G>T (n.*620G>T)
n.2003G>T
c.759G>T (p.Glu253Asp)
17g.6695911C>GCA397744945SLC13A5c.870G>C (p.Glu290Asp)
c.819G>C (p.Glu273Asp)
c.741G>C (p.Glu247Asp)
c.*620G>C (n.*620G>C)
n.2003G>C
c.759G>C (p.Glu253Asp)
17g.6695911C>TCA497596349SLC13A5c.870G>A (p.Glu290=)
c.819G>A (p.Glu273=)
c.741G>A (p.Glu247=)
c.*620G>A (n.*620G>A)
n.2003G>A
c.759G>A (p.Glu253=)
 gnomAD v4
17g.6695912T>ACA397744957SLC13A5c.869A>T (p.Glu290Val)
c.818A>T (p.Glu273Val)
c.740A>T (p.Glu247Val)
c.*619A>T (n.*619A>T)
n.2002A>T
c.758A>T (p.Glu253Val)
17g.6695912T>CCA397744952SLC13A5c.869A>G (p.Glu290Gly)
c.818A>G (p.Glu273Gly)
c.740A>G (p.Glu247Gly)
c.*619A>G (n.*619A>G)
n.2002A>G
c.758A>G (p.Glu253Gly)
17g.6695912T>GCA397744955SLC13A5c.869A>C (p.Glu290Ala)
c.818A>C (p.Glu273Ala)
c.740A>C (p.Glu247Ala)
c.*619A>C (n.*619A>C)
n.2002A>C
c.758A>C (p.Glu253Ala)
17g.6695913C>ACA397744960SLC13A5c.868G>T (p.Glu290Ter)
c.817G>T (p.Glu273Ter)
c.739G>T (p.Glu247Ter)
c.*618G>T (n.*618G>T)
n.2001G>T
c.757G>T (p.Glu253Ter)
17g.6695913C>GCA397744961SLC13A5c.868G>C (p.Glu290Gln)
c.817G>C (p.Glu273Gln)
c.739G>C (p.Glu247Gln)
c.*618G>C (n.*618G>C)
n.2001G>C
c.757G>C (p.Glu253Gln)
17g.6695913C>TCA397744962SLC13A5c.868G>A (p.Glu290Lys)
c.817G>A (p.Glu273Lys)
c.739G>A (p.Glu247Lys)
c.*618G>A (n.*618G>A)
n.2001G>A
c.757G>A (p.Glu253Lys)
17g.6695914T>ACA497596352SLC13A5c.867A>T (p.Leu289=)
c.816A>T (p.Leu272=)
c.738A>T (p.Leu246=)
c.*617A>T (n.*617A>T)
n.2000A>T
c.756A>T (p.Leu252=)
17g.6695914T>CCA497596351SLC13A5c.867A>G (p.Leu289=)
c.816A>G (p.Leu272=)
c.738A>G (p.Leu246=)
c.*617A>G (n.*617A>G)
n.2000A>G
c.756A>G (p.Leu252=)
17g.6695914T>GCA497596350SLC13A5c.867A>C (p.Leu289=)
c.816A>C (p.Leu272=)
c.738A>C (p.Leu246=)
c.*617A>C (n.*617A>C)
n.2000A>C
c.756A>C (p.Leu252=)
17g.6695915A=CA2245487623SLC13A5c.866T= (p.Leu289=)
c.815T= (p.Leu272=)
c.737T= (p.Leu246=)
c.*616T= (n.*616T=)
n.1999T=
c.755T= (p.Leu252=)
17g.6695915A>CCA397744963SLC13A5c.866T>G (p.Leu289Arg)
c.815T>G (p.Leu272Arg)
c.737T>G (p.Leu246Arg)
c.*616T>G (n.*616T>G)
n.1999T>G
c.755T>G (p.Leu252Arg)
17g.6695915A>GCA397744964SLC13A5c.866T>C (p.Leu289Pro)
c.815T>C (p.Leu272Pro)
c.737T>C (p.Leu246Pro)
c.*616T>C (n.*616T>C)
n.1999T>C
c.755T>C (p.Leu252Pro)
 dbSNP
17g.6695915A>TCA397744965SLC13A5c.866T>A (p.Leu289Gln)
c.815T>A (p.Leu272Gln)
c.737T>A (p.Leu246Gln)
c.*616T>A (n.*616T>A)
n.1999T>A
c.755T>A (p.Leu252Gln)

Number of alleles fetched