Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.84031901G>ACA150839SLC38A8c.598C>T (p.Gln200Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.84031901G>CCA396938537SLC38A8c.598C>G (p.Gln200Glu)
gnomAD v4
16g.84031901G=CA2238382227SLC38A8c.598C= (p.Gln200=)
16g.84031901G>TCA396938539SLC38A8c.598C>A (p.Gln200Lys)
16g.84031904delCA2634582730SLC38A8c.598del (p.Gln200ArgfsTer11)
gnomAD v4
16g.84031902G>ACA8200175SLC38A8c.597C>T (p.Pro199=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.84031902G>CCA496764423SLC38A8c.597C>G (p.Pro199=)
gnomAD v4
16g.84031902G=CA2238382228SLC38A8c.597C= (p.Pro199=)
16g.84031902G>TCA496764422SLC38A8c.597C>A (p.Pro199=)
16g.84031903G>ACA285457111SLC38A8c.596C>T (p.Pro199Leu)
dbSNP gnomAD v3 gnomAD v4
16g.84031903G>CCA396938546SLC38A8c.596C>G (p.Pro199Arg)
16g.84031903G=CA2238382229SLC38A8c.596C= (p.Pro199=)
16g.84031903G>TCA396938549SLC38A8c.596C>A (p.Pro199His)
16g.84031904G>ACA396938553SLC38A8c.595C>T (p.Pro199Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.84031904G>CCA396938556SLC38A8c.595C>G (p.Pro199Ala)
dbSNP
16g.84031904G=CA2238382230SLC38A8c.595C= (p.Pro199=)
16g.84031904G>TCA396938559SLC38A8c.595C>A (p.Pro199Thr)
16g.84031904_84031905delinsGCCA2238382231SLC38A8c.594_595delinsGC (p.Trp198=)
16g.84031905C>ACA396938567SLC38A8c.594G>T (p.Trp198Cys)
dbSNP gnomAD v2 gnomAD v4
16g.84031905C=CA2238382232SLC38A8c.594G= (p.Trp198=)
16g.84031905C>GCA396938565SLC38A8c.594G>C (p.Trp198Cys)
16g.84031905C>TCA396938562SLC38A8c.594G>A (p.Trp198Ter)
dbSNP gnomAD v4
16g.84031906delCA8200176SLC38A8c.594del (p.Trp198CysfsTer13)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.84031906C>ACA396938570SLC38A8c.593G>T (p.Trp198Leu)
gnomAD v4
16g.84031906C=CA2238382233SLC38A8c.593G= (p.Trp198=)
16g.84031906C>GCA396938573SLC38A8c.593G>C (p.Trp198Ser)
16g.84031906C>TCA396938576SLC38A8c.593G>A (p.Trp198Ter)
dbSNP
16g.84031907A=CA2238382234SLC38A8c.592T= (p.Trp198=)
16g.84031907A>CCA396938580SLC38A8c.592T>G (p.Trp198Gly)
16g.84031907A>GCA8200177SLC38A8c.592T>C (p.Trp198Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.84031907A>TCA396938584SLC38A8c.592T>A (p.Trp198Arg)
dbSNP
16g.84031908G>ACA496764424SLC38A8c.591C>T (p.Leu197=)
16g.84031908G>CCA496764425SLC38A8c.591C>G (p.Leu197=)
dbSNP
16g.84031908G=CA2238382235SLC38A8c.591C= (p.Leu197=)
16g.84031908G>TCA496764426SLC38A8c.591C>A (p.Leu197=)
16g.84031909A>CCA396938585SLC38A8c.590T>G (p.Leu197Arg)
16g.84031909A>GCA396938587SLC38A8c.590T>C (p.Leu197Pro)
gnomAD v4
16g.84031909A>TCA396938590SLC38A8c.590T>A (p.Leu197His)
16g.84031910G>ACA8200178SLC38A8c.589C>T (p.Leu197Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.84031910G>CCA396938595SLC38A8c.589C>G (p.Leu197Val)
dbSNP gnomAD v3 gnomAD v4
16g.84031910G=CA2238382236SLC38A8c.589C= (p.Leu197=)
16g.84031910G>TCA396938598SLC38A8c.589C>A (p.Leu197Ile)
16g.84031911G>ACA496764427SLC38A8c.588C>T (p.Tyr196=)
dbSNP gnomAD v4
16g.84031911G>CCA396938603SLC38A8c.588C>G (p.Tyr196Ter)
16g.84031911G>TCA396938600SLC38A8c.588C>A (p.Tyr196Ter)
16g.84031912T>ACA396938607SLC38A8c.587A>T (p.Tyr196Phe)
16g.84031912T>CCA396938613SLC38A8c.587A>G (p.Tyr196Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.84031912T>GCA396938610SLC38A8c.587A>C (p.Tyr196Ser)
16g.84031912T=CA2238382237SLC38A8c.587A= (p.Tyr196=)
16g.84031913A=CA2238382238SLC38A8c.586T= (p.Tyr196=)
16g.84031913A>CCA396938614SLC38A8c.586T>G (p.Tyr196Asp)
16g.84031913A>GCA396938617SLC38A8c.586T>C (p.Tyr196His)
dbSNP gnomAD v4
16g.84031913A>TCA396938621SLC38A8c.586T>A (p.Tyr196Asn)
16g.84031914G>ACA8200179SLC38A8c.585C>T (p.Tyr195=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.84031914G>CCA396938623SLC38A8c.585C>G (p.Tyr195Ter)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.84031914G=CA2238382239SLC38A8c.585C= (p.Tyr195=)
16g.84031914G>TCA396938626SLC38A8c.585C>A (p.Tyr195Ter)
16g.84031915T>ACA8200180SLC38A8c.584A>T (p.Tyr195Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.84031915T>CCA285457137SLC38A8c.584A>G (p.Tyr195Cys)
dbSNP gnomAD v4
16g.84031915T>GCA396938632SLC38A8c.584A>C (p.Tyr195Ser)
16g.84031915T=CA2238382240SLC38A8c.584A= (p.Tyr195=)
16g.84031916A>CCA396938635SLC38A8c.583T>G (p.Tyr195Asp)
16g.84031916A>GCA396938637SLC38A8c.583T>C (p.Tyr195His)
16g.84031916A>TCA396938639SLC38A8c.583T>A (p.Tyr195Asn)
16g.84031917C>ACA396938646SLC38A8c.582G>T (p.Gln194His)
16g.84031917C=CA2238382241SLC38A8c.582G= (p.Gln194=)
16g.84031917C>GCA396938643SLC38A8c.582G>C (p.Gln194His)
16g.84031917C>TCA8200181SLC38A8c.582G>A (p.Gln194=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.84031918T>ACA396938649SLC38A8c.581A>T (p.Gln194Leu)
gnomAD v4
16g.84031918T>CCA8200182SLC38A8c.581A>G (p.Gln194Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.84031918T>GCA396938654SLC38A8c.581A>C (p.Gln194Pro)
16g.84031918T=CA2238382242SLC38A8c.581A= (p.Gln194=)
16g.84031919G>ACA396938657SLC38A8c.580C>T (p.Gln194Ter)
dbSNP gnomAD v4
16g.84031919G>CCA396938659SLC38A8c.580C>G (p.Gln194Glu)
16g.84031919G=CA2238382243SLC38A8c.580C= (p.Gln194=)
16g.84031919G>TCA396938661SLC38A8c.580C>A (p.Gln194Lys)
16g.84031920C>ACA496764428SLC38A8c.579G>T (p.Val193=)
ClinVar
16g.84031920C>GCA496764429SLC38A8c.579G>C (p.Val193=)
16g.84031920C>TCA496764430SLC38A8c.579G>A (p.Val193=)
ClinVar
16g.84031921A>CCA396938663SLC38A8c.578T>G (p.Val193Gly)
16g.84031921A>GCA396938665SLC38A8c.578T>C (p.Val193Ala)
16g.84031921A>TCA396938667SLC38A8c.578T>A (p.Val193Glu)
16g.84031922C>ACA396938669SLC38A8c.577G>T (p.Val193Leu)
16g.84031922C=CA2238382244SLC38A8c.577G= (p.Val193=)
16g.84031922C>GCA396938671SLC38A8c.577G>C (p.Val193Leu)
gnomAD v4
16g.84031922C>TCA285457154SLC38A8c.577G>A (p.Val193Met)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.84031923G>ACA8200184SLC38A8c.576C>T (p.Thr192=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.84031923G>CCA496764431SLC38A8c.576C>G (p.Thr192=)
16g.84031923G=CA2238382245SLC38A8c.576C= (p.Thr192=)
16g.84031923G>TCA8200183SLC38A8c.576C>A (p.Thr192=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.84031924G>ACA396938678SLC38A8c.575C>T (p.Thr192Ile)
16g.84031924G>CCA396938681SLC38A8c.575C>G (p.Thr192Ser)
16g.84031924G>TCA396938683SLC38A8c.575C>A (p.Thr192Asn)
16g.84031925T>ACA396938686SLC38A8c.574A>T (p.Thr192Ser)
16g.84031925T>CCA396938689SLC38A8c.574A>G (p.Thr192Ala)
16g.84031925T>GCA396938690SLC38A8c.574A>C (p.Thr192Pro)
gnomAD v4
16g.84031926G>ACA496764432SLC38A8c.573C>T (p.Ile191=)
gnomAD v4
16g.84031926G>CCA396938693SLC38A8c.573C>G (p.Ile191Met)
16g.84031926G>TCA496764433SLC38A8c.573C>A (p.Ile191=)
16g.84031927A>CCA396938697SLC38A8c.572T>G (p.Ile191Ser)
16g.84031927A>GCA396938700SLC38A8c.572T>C (p.Ile191Thr)
16g.84031927A>TCA396938698SLC38A8c.572T>A (p.Ile191Asn)
16g.84031928T>ACA8200185SLC38A8c.571A>T (p.Ile191Phe)
dbSNP ExAC
16g.84031928T>CCA8200186SLC38A8c.571A>G (p.Ile191Val)
dbSNP ExAC gnomAD v3 gnomAD v4
16g.84031928T>GCA396938704SLC38A8c.571A>C (p.Ile191Leu)
16g.84031928T=CA2238382246SLC38A8c.571A= (p.Ile191=)
16g.84031929G>ACA496764434SLC38A8c.570C>T (p.Val190=)
16g.84031929G>CCA8200187SLC38A8c.570C>G (p.Val190=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.84031929G=CA2238382247SLC38A8c.570C= (p.Val190=)
16g.84031929G>TCA496764435SLC38A8c.570C>A (p.Val190=)
16g.84031930A>CCA396938714SLC38A8c.569T>G (p.Val190Gly)
16g.84031930A>GCA396938709SLC38A8c.569T>C (p.Val190Ala)
16g.84031930A>TCA396938711SLC38A8c.569T>A (p.Val190Asp)
16g.84031931C>ACA396938716SLC38A8c.568G>T (p.Val190Phe)
16g.84031931C=CA2238382248SLC38A8c.568G= (p.Val190=)
16g.84031931C>GCA8200188SLC38A8c.568G>C (p.Val190Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.84031931C>TCA396938719SLC38A8c.568G>A (p.Val190Ile)
dbSNP gnomAD v4
16g.84031932C>ACA496764436SLC38A8c.567G>T (p.Leu189=)
16g.84031932C=CA2238382249SLC38A8c.567G= (p.Leu189=)
16g.84031932C>GCA496764437SLC38A8c.567G>C (p.Leu189=)
gnomAD v4
16g.84031932C>TCA496764438SLC38A8c.567G>A (p.Leu189=)
dbSNP gnomAD v2 gnomAD v4
16g.84031933A>CCA396938722SLC38A8c.566T>G (p.Leu189Arg)
16g.84031933A>GCA396938724SLC38A8c.566T>C (p.Leu189Pro)
gnomAD v4
16g.84031933A>TCA396938727SLC38A8c.566T>A (p.Leu189Gln)
16g.84031934G>ACA496764439SLC38A8c.565C>T (p.Leu189=)
dbSNP gnomAD v3 gnomAD v4
16g.84031934G>CCA285457191SLC38A8c.565C>G (p.Leu189Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.84031934G=CA2238382250SLC38A8c.565C= (p.Leu189=)
16g.84031934G>TCA396938730SLC38A8c.565C>A (p.Leu189Met)
16g.84031935G>ACA496764440SLC38A8c.564C>T (p.Ala188=)
dbSNP gnomAD v3 gnomAD v4
16g.84031935G>CCA8200189SLC38A8c.564C>G (p.Ala188=)
dbSNP ExAC gnomAD v2
16g.84031935G=CA2238382251SLC38A8c.564C= (p.Ala188=)
16g.84031935G>TCA496764441SLC38A8c.564C>A (p.Ala188=)
16g.84031936G>ACA396938735SLC38A8c.563C>T (p.Ala188Val)
dbSNP gnomAD v4
16g.84031936G>CCA396938739SLC38A8c.563C>G (p.Ala188Gly)
gnomAD v4
16g.84031936G=CA2238382252SLC38A8c.563C= (p.Ala188=)
16g.84031936G>TCA396938742SLC38A8c.563C>A (p.Ala188Asp)
16g.84031937C>ACA396938744SLC38A8c.562G>T (p.Ala188Ser)
16g.84031937C>GCA396938750SLC38A8c.562G>C (p.Ala188Pro)
16g.84031937C>TCA396938747SLC38A8c.562G>A (p.Ala188Thr)
gnomAD v4
16g.84031938delCA2634582731SLC38A8c.562del (p.Ala188ProfsTer23)
ClinVar gnomAD v4
16g.84031938C>ACA496764443SLC38A8c.561G>T (p.Leu187=)
16g.84031938C>GCA496764444SLC38A8c.561G>C (p.Leu187=)
16g.84031938C>TCA496764442SLC38A8c.561G>A (p.Leu187=)
16g.84031939A>CCA396938754SLC38A8c.560T>G (p.Leu187Arg)
16g.84031939A>GCA396938759SLC38A8c.560T>C (p.Leu187Pro)
16g.84031939A>TCA396938757SLC38A8c.560T>A (p.Leu187Gln)
16g.84031940G>ACA496764445SLC38A8c.559C>T (p.Leu187=)
dbSNP gnomAD v2 gnomAD v4
16g.84031940G>CCA396938763SLC38A8c.559C>G (p.Leu187Val)
dbSNP gnomAD v3 gnomAD v4
16g.84031940G=CA2238382253SLC38A8c.559C= (p.Leu187=)
16g.84031940G>TCA396938765SLC38A8c.559C>A (p.Leu187Met)
16g.84031941G>ACA496764446SLC38A8c.558C>T (p.Tyr186=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.84031941G>CCA396938766SLC38A8c.558C>G (p.Tyr186Ter)
ClinVar
16g.84031941G=CA2238382254SLC38A8c.558C= (p.Tyr186=)
16g.84031941G>TCA396938767SLC38A8c.558C>A (p.Tyr186Ter)
gnomAD v4
16g.84031942T>ACA396938768SLC38A8c.557A>T (p.Tyr186Phe)
dbSNP gnomAD v2 gnomAD v4
16g.84031942T>CCA396938770SLC38A8c.557A>G (p.Tyr186Cys)
16g.84031942T>GCA396938772SLC38A8c.557A>C (p.Tyr186Ser)
16g.84031942T=CA2238382255SLC38A8c.557A= (p.Tyr186=)
16g.84031943A=CA2238382256SLC38A8c.556T= (p.Tyr186=)
16g.84031943A>CCA396938774SLC38A8c.556T>G (p.Tyr186Asp)
dbSNP
16g.84031943A>GCA396938775SLC38A8c.556T>C (p.Tyr186His)
16g.84031943A>TCA396938777SLC38A8c.556T>A (p.Tyr186Asn)
16g.84031944A>CCA396938778SLC38A8c.555T>G (p.Cys185Trp)
16g.84031944A>GCA496764447SLC38A8c.555T>C (p.Cys185=)
16g.84031944A>TCA396938780SLC38A8c.555T>A (p.Cys185Ter)
16g.84031945C>ACA8200190SLC38A8c.554G>T (p.Cys185Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.84031945C=CA2238382257SLC38A8c.554G= (p.Cys185=)
16g.84031945C>GCA396938783SLC38A8c.554G>C (p.Cys185Ser)
dbSNP
16g.84031945C>TCA285457206SLC38A8c.554G>A (p.Cys185Tyr)
dbSNP gnomAD v3 gnomAD v4
16g.84031946A>CCA396938788SLC38A8c.553T>G (p.Cys185Gly)
COSMIC
16g.84031946A>GCA396938785SLC38A8c.553T>C (p.Cys185Arg)
16g.84031946A>TCA396938787SLC38A8c.553T>A (p.Cys185Ser)
16g.84031947G>ACA496764448SLC38A8c.552C>T (p.Ala184=)
16g.84031947G>CCA496764449SLC38A8c.552C>G (p.Ala184=)
16g.84031947G>TCA496764450SLC38A8c.552C>A (p.Ala184=)
16g.84031948G>ACA396938790SLC38A8c.551C>T (p.Ala184Val)
dbSNP gnomAD v2 gnomAD v4
16g.84031948G>CCA285457207SLC38A8c.551C>G (p.Ala184Gly)
dbSNP gnomAD v2 gnomAD v4
16g.84031948G=CA2238382258SLC38A8c.551C= (p.Ala184=)
16g.84031948G>TCA396938792SLC38A8c.551C>A (p.Ala184Asp)
gnomAD v4
16g.84031949C>ACA396938793SLC38A8c.550G>T (p.Ala184Ser)
16g.84031949C=CA2238382259SLC38A8c.550G= (p.Ala184=)
16g.84031949C>GCA8200191SLC38A8c.550G>C (p.Ala184Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.84031949C>TCA396938795SLC38A8c.550G>A (p.Ala184Thr)
16g.84031950A>CCA496764452SLC38A8c.549T>G (p.Ala183=)
gnomAD v4
16g.84031950A>GCA496764453SLC38A8c.549T>C (p.Ala183=)
16g.84031950A>TCA496764454SLC38A8c.549T>A (p.Ala183=)
16g.84031951G>ACA396938797SLC38A8c.548C>T (p.Ala183Val)
16g.84031951G>CCA396938799SLC38A8c.548C>G (p.Ala183Gly)
16g.84031951G>TCA396938801SLC38A8c.548C>A (p.Ala183Asp)
16g.84031952C>ACA396938803SLC38A8c.547G>T (p.Ala183Ser)
16g.84031952C=CA2238382260SLC38A8c.547G= (p.Ala183=)
16g.84031952C>GCA285457211SLC38A8c.547G>C (p.Ala183Pro)
dbSNP
16g.84031952C>TCA396938805SLC38A8c.547G>A (p.Ala183Thr)
16g.84031953C>ACA496764455SLC38A8c.546G>T (p.Leu182=)
16g.84031953C=CA2238382261SLC38A8c.546G= (p.Leu182=)
16g.84031953C>GCA496764456SLC38A8c.546G>C (p.Leu182=)
ClinVar gnomAD v4
16g.84031953C>TCA496764457SLC38A8c.546G>A (p.Leu182=)
ClinVar gnomAD v4
16g.84031954A>CCA396938809SLC38A8c.545T>G (p.Leu182Arg)
16g.84031954A>GCA396938811SLC38A8c.545T>C (p.Leu182Pro)
gnomAD v4
16g.84031954A>TCA396938808SLC38A8c.545T>A (p.Leu182Gln)
16g.84031954dupCA8200192SLC38A8c.545dup (p.Ala183GlyfsTer23)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.84031955G>ACA285457220SLC38A8c.544C>T (p.Leu182=)
dbSNP gnomAD v3 gnomAD v4
16g.84031955G>CCA8200193SLC38A8c.544C>G (p.Leu182Val)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.84031955G=CA2238382262SLC38A8c.544C= (p.Leu182=)
16g.84031955G>TCA396938812SLC38A8c.544C>A (p.Leu182Met)
gnomAD v4
16g.84031956A>CCA496764458SLC38A8c.543T>G (p.Thr181=)
16g.84031956A>GCA496764459SLC38A8c.543T>C (p.Thr181=)
16g.84031956A>TCA496764460SLC38A8c.543T>A (p.Thr181=)
16g.84031957G>ACA396938813SLC38A8c.542C>T (p.Thr181Ile)
16g.84031957G>CCA396938816SLC38A8c.542C>G (p.Thr181Ser)
dbSNP gnomAD v2 gnomAD v4
16g.84031957G=CA2238382263SLC38A8c.542C= (p.Thr181=)
16g.84031957G>TCA396938817SLC38A8c.542C>A (p.Thr181Asn)
16g.84031958T>ACA396938819SLC38A8c.541A>T (p.Thr181Ser)
gnomAD v4
16g.84031958T>CCA285457257SLC38A8c.541A>G (p.Thr181Ala)
dbSNP
16g.84031958T>GCA396938821SLC38A8c.541A>C (p.Thr181Pro)
16g.84031958T=CA2238382264SLC38A8c.541A= (p.Thr181=)
16g.84031959G>ACA8200194SLC38A8c.540C>T (p.Gly180=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.84031959G>CCA496764462SLC38A8c.540C>G (p.Gly180=)
16g.84031959G=CA2238382265SLC38A8c.540C= (p.Gly180=)
16g.84031959G>TCA496764461SLC38A8c.540C>A (p.Gly180=)
16g.84031960C>ACA396938824SLC38A8c.539G>T (p.Gly180Val)
16g.84031960C>GCA396938826SLC38A8c.539G>C (p.Gly180Ala)
16g.84031960C>TCA396938827SLC38A8c.539G>A (p.Gly180Asp)
16g.84031961C>ACA396938828SLC38A8c.538G>T (p.Gly180Cys)
16g.84031961C>GCA396938832SLC38A8c.538G>C (p.Gly180Arg)
ClinVar
16g.84031961C>TCA396938830SLC38A8c.538G>A (p.Gly180Ser)
gnomAD v4
16g.84031962T>ACA496764463SLC38A8c.537A>T (p.Leu179=)
16g.84031962T>CCA496764464SLC38A8c.537A>G (p.Leu179=)
16g.84031962T>GCA496764465SLC38A8c.537A>C (p.Leu179=)
16g.84031963A>CCA396938833SLC38A8c.536T>G (p.Leu179Arg)
16g.84031963A>GCA396938834SLC38A8c.536T>C (p.Leu179Pro)
16g.84031963A>TCA396938836SLC38A8c.536T>A (p.Leu179Gln)
16g.84031964G>ACA8200195SLC38A8c.535C>T (p.Leu179=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.84031964G>CCA8200196SLC38A8c.535C>G (p.Leu179Val)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.84031964G=CA2238382266SLC38A8c.535C= (p.Leu179=)
16g.84031964G>TCA396938840SLC38A8c.535C>A (p.Leu179Ile)
gnomAD v4 COSMIC
16g.84031965G>ACA285457270SLC38A8c.534C>T (p.Ile178=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.84031965G>CCA8200197SLC38A8c.534C>G (p.Ile178Met)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.84031965G=CA2238382267SLC38A8c.534C= (p.Ile178=)
16g.84031965G>TCA496764466SLC38A8c.534C>A (p.Ile178=)
dbSNP gnomAD v3 gnomAD v4
16g.84031966A>CCA396938844SLC38A8c.533T>G (p.Ile178Ser)
16g.84031966A>GCA396938845SLC38A8c.533T>C (p.Ile178Thr)
gnomAD v4
16g.84031966A>TCA396938846SLC38A8c.533T>A (p.Ile178Asn)
16g.84031967T>ACA8200198SLC38A8c.532A>T (p.Ile178Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.84031967T>CCA396938849SLC38A8c.532A>G (p.Ile178Val)
dbSNP gnomAD v2 gnomAD v4
16g.84031967T>GCA396938847SLC38A8c.532A>C (p.Ile178Leu)
16g.84031967T=CA2238382268SLC38A8c.532A= (p.Ile178=)
16g.84031968G>ACA285457278SLC38A8c.531C>T (p.Ser177=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.84031968G>CCA396938853SLC38A8c.531C>G (p.Ser177Arg)
16g.84031968G=CA2238382269SLC38A8c.531C= (p.Ser177=)
16g.84031968G>TCA396938851SLC38A8c.531C>A (p.Ser177Arg)
16g.84031969C>ACA396938854SLC38A8c.531-1G>T (n.531-1G>T)
16g.84031969C=CA2238382270SLC38A8c.531-1G= (n.531-1G=)
16g.84031969C>GCA396938856SLC38A8c.531-1G>C (n.531-1G>C)
dbSNP
16g.84031969C>TCA396938860SLC38A8c.531-1G>A (n.531-1G>A)
COSMIC
16g.84031970T>ACA396938862SLC38A8c.531-2A>T (n.531-2A>T)
16g.84031970T>CCA396938863SLC38A8c.531-2A>G (n.531-2A>G)
16g.84031970T>GCA396938865SLC38A8c.531-2A>C (n.531-2A>C)
16g.84031972A=CA2238382271SLC38A8c.531-4T= (n.531-4T=)
16g.84031972A>CCA8200199SLC38A8c.531-4T>G (n.531-4T>G)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.84031975_84031976delCA2634582732SLC38A8c.531-5_531-4del (n.531-5_531-4del)
gnomAD v4
16g.84031973C=CA2238382272SLC38A8c.531-5G= (n.531-5G=)
16g.84031973C>TCA623841695SLC38A8c.531-5G>A (n.531-5G>A)
dbSNP gnomAD v2
16g.84031974A=CA2238382274SLC38A8c.531-6T= (n.531-6T=)
16g.84031974A>GCA623841696SLC38A8c.531-6T>C (n.531-6T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.84031974_84031997delinsACAGTGACCGTGTGAGGGGCTGCGCA2238382273SLC38A8c.531-29_531-6delinsCGCAGCCCCTCACACGGTCACTGT (n.531-29_531-6delinsCGCAGCCCCTCACACGGTCACTGT)
16g.84031975C>ACA2697555980SLC38A8c.531-7G>T (n.531-7G>T)
ClinVar
16g.84031975C=CA2238382275SLC38A8c.531-7G= (n.531-7G=)
16g.84031975C>TCA623841697SLC38A8c.531-7G>A (n.531-7G>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.84031980_84032002delCA8200200SLC38A8c.531-29_531-7del (n.531-29_531-7del)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.84031976A=CA2238382276SLC38A8c.531-8T= (n.531-8T=)
16g.84031976A>GCA8200201SLC38A8c.531-8T>C (n.531-8T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.84031977G>ACA2238382278SLC38A8c.531-9C>T (n.531-9C>T)
dbSNP gnomAD v3 gnomAD v4
16g.84031977G>CCA2576121106SLC38A8c.531-9C>G (n.531-9C>G)
16g.84031977G=CA2238382277SLC38A8c.531-9C= (n.531-9C=)
16g.84031978T>GCA2634582733SLC38A8c.531-10A>C (n.531-10A>C)
gnomAD v4
16g.84031979G>ACA2807913785SLC38A8c.531-11C>T (n.531-11C>T)
16g.84031979G>CCA623841698SLC38A8c.531-11C>G (n.531-11C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.84031979G=CA2238382279SLC38A8c.531-11C= (n.531-11C=)
16g.84031979G>TCA2634582734SLC38A8c.531-11C>A (n.531-11C>A)
gnomAD v4
16g.84031980A>CCA2634582735SLC38A8c.531-12T>G (n.531-12T>G)
gnomAD v4
16g.84031981C>ACA8200203SLC38A8c.531-13G>T (n.531-13G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.84031981C=CA2238382280SLC38A8c.531-13G= (n.531-13G=)
16g.84031981C>GCA2581278627SLC38A8c.531-13G>C (n.531-13G>C)
16g.84031981C>TCA8200202SLC38A8c.531-13G>A (n.531-13G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.84031982C>ACA8200204SLC38A8c.531-14G>T (n.531-14G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.84031982C=CA2238382281SLC38A8c.531-14G= (n.531-14G=)
16g.84031982C>GCA8200205SLC38A8c.531-14G>C (n.531-14G>C)
ClinVar dbSNP ExAC gnomAD v2
16g.84031982C>TCA8200206SLC38A8c.531-14G>A (n.531-14G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.84031983G>ACA8200207SLC38A8c.531-15C>T (n.531-15C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.84031983G>CCA2634582736SLC38A8c.531-15C>G (n.531-15C>G)
gnomAD v4
16g.84031983G=CA2238382282SLC38A8c.531-15C= (n.531-15C=)
16g.84031983G>TCA725007944SLC38A8c.531-15C>A (n.531-15C>A)
dbSNP gnomAD v3 gnomAD v4
16g.84031984T>CCA285457301SLC38A8c.531-16A>G (n.531-16A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.84031984T>GCA2238382284SLC38A8c.531-16A>C (n.531-16A>C)
dbSNP gnomAD v4
16g.84031984T=CA2238382283SLC38A8c.531-16A= (n.531-16A=)
16g.84031985G>ACA2634582737SLC38A8c.531-17C>T (n.531-17C>T)
gnomAD v4
16g.84031985G>CCA2634582738SLC38A8c.531-17C>G (n.531-17C>G)
gnomAD v4
16g.84031985G=CA2238382285SLC38A8c.531-17C= (n.531-17C=)
16g.84031985G>TCA8200208SLC38A8c.531-17C>A (n.531-17C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.84031986T>ACA2576121107SLC38A8c.531-18A>T (n.531-18A>T)
gnomAD v4
16g.84031987G>ACA2634582739SLC38A8c.531-19C>T (n.531-19C>T)
ClinVar gnomAD v4
16g.84031987G>CCA2634582740SLC38A8c.531-19C>G (n.531-19C>G)
gnomAD v4
16g.84031988A>GCA2634582741SLC38A8c.531-20T>C (n.531-20T>C)
gnomAD v4
16g.84031989G>ACA2238382287SLC38A8c.531-21C>T (n.531-21C>T)
dbSNP
16g.84031989G>CCA623841701SLC38A8c.531-21C>G (n.531-21C>G)
dbSNP gnomAD v2 gnomAD v4
16g.84031989G=CA2238382286SLC38A8c.531-21C= (n.531-21C=)
16g.84031990G>ACA8200209SLC38A8c.531-22C>T (n.531-22C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.84031990G>CCA8200210SLC38A8c.531-22C>G (n.531-22C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.84031990G=CA2238382288SLC38A8c.531-22C= (n.531-22C=)
16g.84031990G>TCA979905386SLC38A8c.531-22C>A (n.531-22C>A)
dbSNP gnomAD v3 gnomAD v4
16g.84031991G>ACA8200211SLC38A8c.531-23C>T (n.531-23C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.84031991G=CA2238382289SLC38A8c.531-23C= (n.531-23C=)
16g.84031991G>TCA725007956SLC38A8c.531-23C>A (n.531-23C>A)
dbSNP gnomAD v3 gnomAD v4
16g.84031992G>ACA8200212SLC38A8c.531-24C>T (n.531-24C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.84031992G=CA2238382290SLC38A8c.531-24C= (n.531-24C=)
16g.84031992G>TCA623841704SLC38A8c.531-24C>A (n.531-24C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.84031993C>ACA8200213SLC38A8c.531-25G>T (n.531-25G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.84031993C=CA2238382291SLC38A8c.531-25G= (n.531-25G=)
16g.84031993C>TCA623841706SLC38A8c.531-25G>A (n.531-25G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.84031994T>ACA725007963SLC38A8c.531-26A>T (n.531-26A>T)
dbSNP
16g.84031994T=CA2238382292SLC38A8c.531-26A= (n.531-26A=)
16g.84031995G>CCA2807913786SLC38A8c.531-27C>G (n.531-27C>G)
16g.84031995G>TCA2576121108SLC38A8c.531-27C>A (n.531-27C>A)
gnomAD v4
16g.84031996C>ACA623841708SLC38A8c.531-28G>T (n.531-28G>T)
dbSNP gnomAD v2 gnomAD v4
16g.84031996C=CA2238382293SLC38A8c.531-28G= (n.531-28G=)
16g.84031996C>TCA8200214SLC38A8c.531-28G>A (n.531-28G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.84031997G>ACA8200215SLC38A8c.531-29C>T (n.531-29C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.84031997G=CA2238382294SLC38A8c.531-29C= (n.531-29C=)
16g.84031997G>TCA2634582742SLC38A8c.531-29C>A (n.531-29C>A)
gnomAD v4
16g.84031998C=CA2238382295SLC38A8c.531-30G= (n.531-30G=)
16g.84031998C>TCA623841714SLC38A8c.531-30G>A (n.531-30G>A)
dbSNP gnomAD v2 gnomAD v4
16g.84031999A=CA2238382296SLC38A8c.531-31T= (n.531-31T=)
16g.84031999A>GCA8200216SLC38A8c.531-31T>C (n.531-31T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.84032000G>ACA623841715SLC38A8c.531-32C>T (n.531-32C>T)
dbSNP gnomAD v2 gnomAD v4
16g.84032000G=CA2238382297SLC38A8c.531-32C= (n.531-32C=)
16g.84032000G>TCA2634582743SLC38A8c.531-32C>A (n.531-32C>A)
gnomAD v4
16g.84032001T>CCA2576121109SLC38A8c.531-33A>G (n.531-33A>G)
gnomAD v4
16g.84032001T>GCA2634582744SLC38A8c.531-33A>C (n.531-33A>C)
gnomAD v4

Number of alleles fetched