16 | g.84031910G>A | CA8200178 | SLC38A8 | c.589C>T (p.Leu197Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031910G>C | CA396938595 | SLC38A8 | c.589C>G (p.Leu197Val)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.84031910G= | CA2238382236 | SLC38A8 | c.589C= (p.Leu197=)
| |
16 | g.84031910G>T | CA396938598 | SLC38A8 | c.589C>A (p.Leu197Ile)
| |
16 | g.84031911G>A | CA496764427 | SLC38A8 | c.588C>T (p.Tyr196=)
| dbSNP gnomAD v4 |
16 | g.84031911G>C | CA396938603 | SLC38A8 | c.588C>G (p.Tyr196Ter)
| |
16 | g.84031911G>T | CA396938600 | SLC38A8 | c.588C>A (p.Tyr196Ter)
| |
16 | g.84031912T>A | CA396938607 | SLC38A8 | c.587A>T (p.Tyr196Phe)
| |
16 | g.84031912T>C | CA396938613 | SLC38A8 | c.587A>G (p.Tyr196Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.84031912T>G | CA396938610 | SLC38A8 | c.587A>C (p.Tyr196Ser)
| |
16 | g.84031912T= | CA2238382237 | SLC38A8 | c.587A= (p.Tyr196=)
| |
16 | g.84031913A= | CA2238382238 | SLC38A8 | c.586T= (p.Tyr196=)
| |
16 | g.84031913A>C | CA396938614 | SLC38A8 | c.586T>G (p.Tyr196Asp)
| |
16 | g.84031913A>G | CA396938617 | SLC38A8 | c.586T>C (p.Tyr196His)
| dbSNP gnomAD v4 |
16 | g.84031913A>T | CA396938621 | SLC38A8 | c.586T>A (p.Tyr196Asn)
| |
16 | g.84031914G>A | CA8200179 | SLC38A8 | c.585C>T (p.Tyr195=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031914G>C | CA396938623 | SLC38A8 | c.585C>G (p.Tyr195Ter)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.84031914G= | CA2238382239 | SLC38A8 | c.585C= (p.Tyr195=)
| |
16 | g.84031914G>T | CA396938626 | SLC38A8 | c.585C>A (p.Tyr195Ter)
| |
16 | g.84031915T>A | CA8200180 | SLC38A8 | c.584A>T (p.Tyr195Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031915T>C | CA285457137 | SLC38A8 | c.584A>G (p.Tyr195Cys)
| dbSNP gnomAD v4 |
16 | g.84031915T>G | CA396938632 | SLC38A8 | c.584A>C (p.Tyr195Ser)
| |
16 | g.84031915T= | CA2238382240 | SLC38A8 | c.584A= (p.Tyr195=)
| |
16 | g.84031916A>C | CA396938635 | SLC38A8 | c.583T>G (p.Tyr195Asp)
| |
16 | g.84031916A>G | CA396938637 | SLC38A8 | c.583T>C (p.Tyr195His)
| |
16 | g.84031916A>T | CA396938639 | SLC38A8 | c.583T>A (p.Tyr195Asn)
| |
16 | g.84031917C>A | CA396938646 | SLC38A8 | c.582G>T (p.Gln194His)
| |
16 | g.84031917C= | CA2238382241 | SLC38A8 | c.582G= (p.Gln194=)
| |
16 | g.84031917C>G | CA396938643 | SLC38A8 | c.582G>C (p.Gln194His)
| |
16 | g.84031917C>T | CA8200181 | SLC38A8 | c.582G>A (p.Gln194=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031918T>A | CA396938649 | SLC38A8 | c.581A>T (p.Gln194Leu)
| gnomAD v4 |
16 | g.84031918T>C | CA8200182 | SLC38A8 | c.581A>G (p.Gln194Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031918T>G | CA396938654 | SLC38A8 | c.581A>C (p.Gln194Pro)
| |
16 | g.84031918T= | CA2238382242 | SLC38A8 | c.581A= (p.Gln194=)
| |
16 | g.84031919G>A | CA396938657 | SLC38A8 | c.580C>T (p.Gln194Ter)
| dbSNP gnomAD v4 |
16 | g.84031919G>C | CA396938659 | SLC38A8 | c.580C>G (p.Gln194Glu)
| |
16 | g.84031919G= | CA2238382243 | SLC38A8 | c.580C= (p.Gln194=)
| |
16 | g.84031919G>T | CA396938661 | SLC38A8 | c.580C>A (p.Gln194Lys)
| |
16 | g.84031920C>A | CA496764428 | SLC38A8 | c.579G>T (p.Val193=)
| ClinVar |
16 | g.84031920C>G | CA496764429 | SLC38A8 | c.579G>C (p.Val193=)
| |
16 | g.84031920C>T | CA496764430 | SLC38A8 | c.579G>A (p.Val193=)
| ClinVar |
16 | g.84031921A>C | CA396938663 | SLC38A8 | c.578T>G (p.Val193Gly)
| |
16 | g.84031921A>G | CA396938665 | SLC38A8 | c.578T>C (p.Val193Ala)
| |
16 | g.84031921A>T | CA396938667 | SLC38A8 | c.578T>A (p.Val193Glu)
| |
16 | g.84031922C>A | CA396938669 | SLC38A8 | c.577G>T (p.Val193Leu)
| |
16 | g.84031922C= | CA2238382244 | SLC38A8 | c.577G= (p.Val193=)
| |
16 | g.84031922C>G | CA396938671 | SLC38A8 | c.577G>C (p.Val193Leu)
| gnomAD v4 |
16 | g.84031922C>T | CA285457154 | SLC38A8 | c.577G>A (p.Val193Met)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.84031923G>A | CA8200184 | SLC38A8 | c.576C>T (p.Thr192=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.84031923G>C | CA496764431 | SLC38A8 | c.576C>G (p.Thr192=)
| |
16 | g.84031923G= | CA2238382245 | SLC38A8 | c.576C= (p.Thr192=)
| |
16 | g.84031923G>T | CA8200183 | SLC38A8 | c.576C>A (p.Thr192=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.84031924G>A | CA396938678 | SLC38A8 | c.575C>T (p.Thr192Ile)
| |
16 | g.84031924G>C | CA396938681 | SLC38A8 | c.575C>G (p.Thr192Ser)
| |
16 | g.84031924G>T | CA396938683 | SLC38A8 | c.575C>A (p.Thr192Asn)
| |
16 | g.84031925T>A | CA396938686 | SLC38A8 | c.574A>T (p.Thr192Ser)
| |
16 | g.84031925T>C | CA396938689 | SLC38A8 | c.574A>G (p.Thr192Ala)
| |
16 | g.84031925T>G | CA396938690 | SLC38A8 | c.574A>C (p.Thr192Pro)
| gnomAD v4 |
16 | g.84031926G>A | CA496764432 | SLC38A8 | c.573C>T (p.Ile191=)
| gnomAD v4 |
16 | g.84031926G>C | CA396938693 | SLC38A8 | c.573C>G (p.Ile191Met)
| |
16 | g.84031926G>T | CA496764433 | SLC38A8 | c.573C>A (p.Ile191=)
| |
16 | g.84031927A>C | CA396938697 | SLC38A8 | c.572T>G (p.Ile191Ser)
| |
16 | g.84031927A>G | CA396938700 | SLC38A8 | c.572T>C (p.Ile191Thr)
| |
16 | g.84031927A>T | CA396938698 | SLC38A8 | c.572T>A (p.Ile191Asn)
| |
16 | g.84031928T>A | CA8200185 | SLC38A8 | c.571A>T (p.Ile191Phe)
| dbSNP ExAC |
16 | g.84031928T>C | CA8200186 | SLC38A8 | c.571A>G (p.Ile191Val)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
16 | g.84031928T>G | CA396938704 | SLC38A8 | c.571A>C (p.Ile191Leu)
| |
16 | g.84031928T= | CA2238382246 | SLC38A8 | c.571A= (p.Ile191=)
| |
16 | g.84031929G>A | CA496764434 | SLC38A8 | c.570C>T (p.Val190=)
| |
16 | g.84031929G>C | CA8200187 | SLC38A8 | c.570C>G (p.Val190=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.84031929G= | CA2238382247 | SLC38A8 | c.570C= (p.Val190=)
| |
16 | g.84031929G>T | CA496764435 | SLC38A8 | c.570C>A (p.Val190=)
| |
16 | g.84031930A>C | CA396938714 | SLC38A8 | c.569T>G (p.Val190Gly)
| |
16 | g.84031930A>G | CA396938709 | SLC38A8 | c.569T>C (p.Val190Ala)
| |
16 | g.84031930A>T | CA396938711 | SLC38A8 | c.569T>A (p.Val190Asp)
| |
16 | g.84031931C>A | CA396938716 | SLC38A8 | c.568G>T (p.Val190Phe)
| |
16 | g.84031931C= | CA2238382248 | SLC38A8 | c.568G= (p.Val190=)
| |
16 | g.84031931C>G | CA8200188 | SLC38A8 | c.568G>C (p.Val190Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.84031931C>T | CA396938719 | SLC38A8 | c.568G>A (p.Val190Ile)
| dbSNP gnomAD v4 |
16 | g.84031932C>A | CA496764436 | SLC38A8 | c.567G>T (p.Leu189=)
| |
16 | g.84031932C= | CA2238382249 | SLC38A8 | c.567G= (p.Leu189=)
| |
16 | g.84031932C>G | CA496764437 | SLC38A8 | c.567G>C (p.Leu189=)
| gnomAD v4 |
16 | g.84031932C>T | CA496764438 | SLC38A8 | c.567G>A (p.Leu189=)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.84031933A>C | CA396938722 | SLC38A8 | c.566T>G (p.Leu189Arg)
| |
16 | g.84031933A>G | CA396938724 | SLC38A8 | c.566T>C (p.Leu189Pro)
| gnomAD v4 |
16 | g.84031933A>T | CA396938727 | SLC38A8 | c.566T>A (p.Leu189Gln)
| |
16 | g.84031934G>A | CA496764439 | SLC38A8 | c.565C>T (p.Leu189=)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.84031934G>C | CA285457191 | SLC38A8 | c.565C>G (p.Leu189Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031934G= | CA2238382250 | SLC38A8 | c.565C= (p.Leu189=)
| |
16 | g.84031934G>T | CA396938730 | SLC38A8 | c.565C>A (p.Leu189Met)
| |
16 | g.84031935G>A | CA496764440 | SLC38A8 | c.564C>T (p.Ala188=)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.84031935G>C | CA8200189 | SLC38A8 | c.564C>G (p.Ala188=)
| dbSNP ExAC gnomAD v2 |
16 | g.84031935G= | CA2238382251 | SLC38A8 | c.564C= (p.Ala188=)
| |
16 | g.84031935G>T | CA496764441 | SLC38A8 | c.564C>A (p.Ala188=)
| |
16 | g.84031936G>A | CA396938735 | SLC38A8 | c.563C>T (p.Ala188Val)
| dbSNP gnomAD v4 |
16 | g.84031936G>C | CA396938739 | SLC38A8 | c.563C>G (p.Ala188Gly)
| gnomAD v4 |
16 | g.84031936G= | CA2238382252 | SLC38A8 | c.563C= (p.Ala188=)
| |
16 | g.84031936G>T | CA396938742 | SLC38A8 | c.563C>A (p.Ala188Asp)
| |
16 | g.84031937C>A | CA396938744 | SLC38A8 | c.562G>T (p.Ala188Ser)
| |
16 | g.84031937C>G | CA396938750 | SLC38A8 | c.562G>C (p.Ala188Pro)
| |
16 | g.84031937C>T | CA396938747 | SLC38A8 | c.562G>A (p.Ala188Thr)
| gnomAD v4 |
16 | g.84031938del | CA2634582731 | SLC38A8 | c.562del (p.Ala188ProfsTer23)
| ClinVar gnomAD v4 |
16 | g.84031938C>A | CA496764443 | SLC38A8 | c.561G>T (p.Leu187=)
| |
16 | g.84031938C>G | CA496764444 | SLC38A8 | c.561G>C (p.Leu187=)
| |
16 | g.84031938C>T | CA496764442 | SLC38A8 | c.561G>A (p.Leu187=)
| |
16 | g.84031939A>C | CA396938754 | SLC38A8 | c.560T>G (p.Leu187Arg)
| |
16 | g.84031939A>G | CA396938759 | SLC38A8 | c.560T>C (p.Leu187Pro)
| |
16 | g.84031939A>T | CA396938757 | SLC38A8 | c.560T>A (p.Leu187Gln)
| |
16 | g.84031940G>A | CA496764445 | SLC38A8 | c.559C>T (p.Leu187=)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.84031940G>C | CA396938763 | SLC38A8 | c.559C>G (p.Leu187Val)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.84031940G= | CA2238382253 | SLC38A8 | c.559C= (p.Leu187=)
| |
16 | g.84031940G>T | CA396938765 | SLC38A8 | c.559C>A (p.Leu187Met)
| |
16 | g.84031941G>A | CA496764446 | SLC38A8 | c.558C>T (p.Tyr186=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031941G>C | CA396938766 | SLC38A8 | c.558C>G (p.Tyr186Ter)
| ClinVar |
16 | g.84031941G= | CA2238382254 | SLC38A8 | c.558C= (p.Tyr186=)
| |
16 | g.84031941G>T | CA396938767 | SLC38A8 | c.558C>A (p.Tyr186Ter)
| gnomAD v4 |
16 | g.84031942T>A | CA396938768 | SLC38A8 | c.557A>T (p.Tyr186Phe)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.84031942T>C | CA396938770 | SLC38A8 | c.557A>G (p.Tyr186Cys)
| |
16 | g.84031942T>G | CA396938772 | SLC38A8 | c.557A>C (p.Tyr186Ser)
| |
16 | g.84031942T= | CA2238382255 | SLC38A8 | c.557A= (p.Tyr186=)
| |
16 | g.84031943A= | CA2238382256 | SLC38A8 | c.556T= (p.Tyr186=)
| |
16 | g.84031943A>C | CA396938774 | SLC38A8 | c.556T>G (p.Tyr186Asp)
| dbSNP |
16 | g.84031943A>G | CA396938775 | SLC38A8 | c.556T>C (p.Tyr186His)
| |
16 | g.84031943A>T | CA396938777 | SLC38A8 | c.556T>A (p.Tyr186Asn)
| |
16 | g.84031944A>C | CA396938778 | SLC38A8 | c.555T>G (p.Cys185Trp)
| |
16 | g.84031944A>G | CA496764447 | SLC38A8 | c.555T>C (p.Cys185=)
| |
16 | g.84031944A>T | CA396938780 | SLC38A8 | c.555T>A (p.Cys185Ter)
| |
16 | g.84031945C>A | CA8200190 | SLC38A8 | c.554G>T (p.Cys185Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.84031945C= | CA2238382257 | SLC38A8 | c.554G= (p.Cys185=)
| |
16 | g.84031945C>G | CA396938783 | SLC38A8 | c.554G>C (p.Cys185Ser)
| dbSNP |
16 | g.84031945C>T | CA285457206 | SLC38A8 | c.554G>A (p.Cys185Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.84031946A>C | CA396938788 | SLC38A8 | c.553T>G (p.Cys185Gly)
| COSMIC |
16 | g.84031946A>G | CA396938785 | SLC38A8 | c.553T>C (p.Cys185Arg)
| |
16 | g.84031946A>T | CA396938787 | SLC38A8 | c.553T>A (p.Cys185Ser)
| |
16 | g.84031947G>A | CA496764448 | SLC38A8 | c.552C>T (p.Ala184=)
| |
16 | g.84031947G>C | CA496764449 | SLC38A8 | c.552C>G (p.Ala184=)
| |
16 | g.84031947G>T | CA496764450 | SLC38A8 | c.552C>A (p.Ala184=)
| |
16 | g.84031948G>A | CA396938790 | SLC38A8 | c.551C>T (p.Ala184Val)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.84031948G>C | CA285457207 | SLC38A8 | c.551C>G (p.Ala184Gly)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.84031948G= | CA2238382258 | SLC38A8 | c.551C= (p.Ala184=)
| |
16 | g.84031948G>T | CA396938792 | SLC38A8 | c.551C>A (p.Ala184Asp)
| gnomAD v4 |
16 | g.84031949C>A | CA396938793 | SLC38A8 | c.550G>T (p.Ala184Ser)
| |
16 | g.84031949C= | CA2238382259 | SLC38A8 | c.550G= (p.Ala184=)
| |
16 | g.84031949C>G | CA8200191 | SLC38A8 | c.550G>C (p.Ala184Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031949C>T | CA396938795 | SLC38A8 | c.550G>A (p.Ala184Thr)
| |
16 | g.84031950A>C | CA496764452 | SLC38A8 | c.549T>G (p.Ala183=)
| gnomAD v4 |
16 | g.84031950A>G | CA496764453 | SLC38A8 | c.549T>C (p.Ala183=)
| |
16 | g.84031950A>T | CA496764454 | SLC38A8 | c.549T>A (p.Ala183=)
| |
16 | g.84031951G>A | CA396938797 | SLC38A8 | c.548C>T (p.Ala183Val)
| |
16 | g.84031951G>C | CA396938799 | SLC38A8 | c.548C>G (p.Ala183Gly)
| |
16 | g.84031951G>T | CA396938801 | SLC38A8 | c.548C>A (p.Ala183Asp)
| |
16 | g.84031952C>A | CA396938803 | SLC38A8 | c.547G>T (p.Ala183Ser)
| |
16 | g.84031952C= | CA2238382260 | SLC38A8 | c.547G= (p.Ala183=)
| |
16 | g.84031952C>G | CA285457211 | SLC38A8 | c.547G>C (p.Ala183Pro)
| dbSNP |
16 | g.84031952C>T | CA396938805 | SLC38A8 | c.547G>A (p.Ala183Thr)
| |
16 | g.84031953C>A | CA496764455 | SLC38A8 | c.546G>T (p.Leu182=)
| |
16 | g.84031953C= | CA2238382261 | SLC38A8 | c.546G= (p.Leu182=)
| |
16 | g.84031953C>G | CA496764456 | SLC38A8 | c.546G>C (p.Leu182=)
| ClinVar gnomAD v4 |
16 | g.84031953C>T | CA496764457 | SLC38A8 | c.546G>A (p.Leu182=)
| ClinVar gnomAD v4 |
16 | g.84031954A>C | CA396938809 | SLC38A8 | c.545T>G (p.Leu182Arg)
| |
16 | g.84031954A>G | CA396938811 | SLC38A8 | c.545T>C (p.Leu182Pro)
| gnomAD v4 |
16 | g.84031954A>T | CA396938808 | SLC38A8 | c.545T>A (p.Leu182Gln)
| |
16 | g.84031954dup | CA8200192 | SLC38A8 | c.545dup (p.Ala183GlyfsTer23)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031955G>A | CA285457220 | SLC38A8 | c.544C>T (p.Leu182=)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.84031955G>C | CA8200193 | SLC38A8 | c.544C>G (p.Leu182Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.84031955G= | CA2238382262 | SLC38A8 | c.544C= (p.Leu182=)
| |
16 | g.84031955G>T | CA396938812 | SLC38A8 | c.544C>A (p.Leu182Met)
| gnomAD v4 |
16 | g.84031956A>C | CA496764458 | SLC38A8 | c.543T>G (p.Thr181=)
| |
16 | g.84031956A>G | CA496764459 | SLC38A8 | c.543T>C (p.Thr181=)
| |
16 | g.84031956A>T | CA496764460 | SLC38A8 | c.543T>A (p.Thr181=)
| |
16 | g.84031957G>A | CA396938813 | SLC38A8 | c.542C>T (p.Thr181Ile)
| |
16 | g.84031957G>C | CA396938816 | SLC38A8 | c.542C>G (p.Thr181Ser)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.84031957G= | CA2238382263 | SLC38A8 | c.542C= (p.Thr181=)
| |
16 | g.84031957G>T | CA396938817 | SLC38A8 | c.542C>A (p.Thr181Asn)
| |
16 | g.84031958T>A | CA396938819 | SLC38A8 | c.541A>T (p.Thr181Ser)
| gnomAD v4 |
16 | g.84031958T>C | CA285457257 | SLC38A8 | c.541A>G (p.Thr181Ala)
| dbSNP |
16 | g.84031958T>G | CA396938821 | SLC38A8 | c.541A>C (p.Thr181Pro)
| |
16 | g.84031958T= | CA2238382264 | SLC38A8 | c.541A= (p.Thr181=)
| |
16 | g.84031959G>A | CA8200194 | SLC38A8 | c.540C>T (p.Gly180=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031959G>C | CA496764462 | SLC38A8 | c.540C>G (p.Gly180=)
| |
16 | g.84031959G= | CA2238382265 | SLC38A8 | c.540C= (p.Gly180=)
| |
16 | g.84031959G>T | CA496764461 | SLC38A8 | c.540C>A (p.Gly180=)
| |
16 | g.84031960C>A | CA396938824 | SLC38A8 | c.539G>T (p.Gly180Val)
| |
16 | g.84031960C>G | CA396938826 | SLC38A8 | c.539G>C (p.Gly180Ala)
| |
16 | g.84031960C>T | CA396938827 | SLC38A8 | c.539G>A (p.Gly180Asp)
| |
16 | g.84031961C>A | CA396938828 | SLC38A8 | c.538G>T (p.Gly180Cys)
| |
16 | g.84031961C>G | CA396938832 | SLC38A8 | c.538G>C (p.Gly180Arg)
| ClinVar |
16 | g.84031961C>T | CA396938830 | SLC38A8 | c.538G>A (p.Gly180Ser)
| gnomAD v4 |
16 | g.84031962T>A | CA496764463 | SLC38A8 | c.537A>T (p.Leu179=)
| |
16 | g.84031962T>C | CA496764464 | SLC38A8 | c.537A>G (p.Leu179=)
| |
16 | g.84031962T>G | CA496764465 | SLC38A8 | c.537A>C (p.Leu179=)
| |
16 | g.84031963A>C | CA396938833 | SLC38A8 | c.536T>G (p.Leu179Arg)
| |
16 | g.84031963A>G | CA396938834 | SLC38A8 | c.536T>C (p.Leu179Pro)
| |
16 | g.84031963A>T | CA396938836 | SLC38A8 | c.536T>A (p.Leu179Gln)
| |
16 | g.84031964G>A | CA8200195 | SLC38A8 | c.535C>T (p.Leu179=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031964G>C | CA8200196 | SLC38A8 | c.535C>G (p.Leu179Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.84031964G= | CA2238382266 | SLC38A8 | c.535C= (p.Leu179=)
| |
16 | g.84031964G>T | CA396938840 | SLC38A8 | c.535C>A (p.Leu179Ile)
| gnomAD v4 COSMIC |
16 | g.84031965G>A | CA285457270 | SLC38A8 | c.534C>T (p.Ile178=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031965G>C | CA8200197 | SLC38A8 | c.534C>G (p.Ile178Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.84031965G= | CA2238382267 | SLC38A8 | c.534C= (p.Ile178=)
| |
16 | g.84031965G>T | CA496764466 | SLC38A8 | c.534C>A (p.Ile178=)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.84031966A>C | CA396938844 | SLC38A8 | c.533T>G (p.Ile178Ser)
| |
16 | g.84031966A>G | CA396938845 | SLC38A8 | c.533T>C (p.Ile178Thr)
| gnomAD v4 |
16 | g.84031966A>T | CA396938846 | SLC38A8 | c.533T>A (p.Ile178Asn)
| |
16 | g.84031967T>A | CA8200198 | SLC38A8 | c.532A>T (p.Ile178Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.84031967T>C | CA396938849 | SLC38A8 | c.532A>G (p.Ile178Val)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.84031967T>G | CA396938847 | SLC38A8 | c.532A>C (p.Ile178Leu)
| |
16 | g.84031967T= | CA2238382268 | SLC38A8 | c.532A= (p.Ile178=)
| |
16 | g.84031968G>A | CA285457278 | SLC38A8 | c.531C>T (p.Ser177=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031968G>C | CA396938853 | SLC38A8 | c.531C>G (p.Ser177Arg)
| |
16 | g.84031968G= | CA2238382269 | SLC38A8 | c.531C= (p.Ser177=)
| |
16 | g.84031968G>T | CA396938851 | SLC38A8 | c.531C>A (p.Ser177Arg)
| |
16 | g.84031969C>A | CA396938854 | SLC38A8 | c.531-1G>T (n.531-1G>T)
| |
16 | g.84031969C= | CA2238382270 | SLC38A8 | c.531-1G= (n.531-1G=)
| |
16 | g.84031969C>G | CA396938856 | SLC38A8 | c.531-1G>C (n.531-1G>C)
| dbSNP |
16 | g.84031969C>T | CA396938860 | SLC38A8 | c.531-1G>A (n.531-1G>A)
| COSMIC |
16 | g.84031970T>A | CA396938862 | SLC38A8 | c.531-2A>T (n.531-2A>T)
| |
16 | g.84031970T>C | CA396938863 | SLC38A8 | c.531-2A>G (n.531-2A>G)
| |
16 | g.84031970T>G | CA396938865 | SLC38A8 | c.531-2A>C (n.531-2A>C)
| |
16 | g.84031972A= | CA2238382271 | SLC38A8 | c.531-4T= (n.531-4T=)
| |
16 | g.84031972A>C | CA8200199 | SLC38A8 | c.531-4T>G (n.531-4T>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.84031975_84031976del | CA2634582732 | SLC38A8 | c.531-5_531-4del (n.531-5_531-4del)
| gnomAD v4 |
16 | g.84031973C= | CA2238382272 | SLC38A8 | c.531-5G= (n.531-5G=)
| |
16 | g.84031973C>T | CA623841695 | SLC38A8 | c.531-5G>A (n.531-5G>A)
| dbSNP gnomAD v2 |
16 | g.84031974A= | CA2238382274 | SLC38A8 | c.531-6T= (n.531-6T=)
| |
16 | g.84031974A>G | CA623841696 | SLC38A8 | c.531-6T>C (n.531-6T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031974_84031997delinsACAGTGACCGTGTGAGGGGCTGCG | CA2238382273 | SLC38A8 | c.531-29_531-6delinsCGCAGCCCCTCACACGGTCACTGT (n.531-29_531-6delinsCGCAGCCCCTCACACGGTCACTGT)
| |
16 | g.84031975C>A | CA2697555980 | SLC38A8 | c.531-7G>T (n.531-7G>T)
| ClinVar |
16 | g.84031975C= | CA2238382275 | SLC38A8 | c.531-7G= (n.531-7G=)
| |
16 | g.84031975C>T | CA623841697 | SLC38A8 | c.531-7G>A (n.531-7G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.84031980_84032002del | CA8200200 | SLC38A8 | c.531-29_531-7del (n.531-29_531-7del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.84031976A= | CA2238382276 | SLC38A8 | c.531-8T= (n.531-8T=)
| |
16 | g.84031976A>G | CA8200201 | SLC38A8 | c.531-8T>C (n.531-8T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.84031977G>A | CA2238382278 | SLC38A8 | c.531-9C>T (n.531-9C>T)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.84031977G>C | CA2576121106 | SLC38A8 | c.531-9C>G (n.531-9C>G)
| |
16 | g.84031977G= | CA2238382277 | SLC38A8 | c.531-9C= (n.531-9C=)
| |
16 | g.84031978T>G | CA2634582733 | SLC38A8 | c.531-10A>C (n.531-10A>C)
| gnomAD v4 |
16 | g.84031979G>A | CA2807913785 | SLC38A8 | c.531-11C>T (n.531-11C>T)
| |
16 | g.84031979G>C | CA623841698 | SLC38A8 | c.531-11C>G (n.531-11C>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031979G= | CA2238382279 | SLC38A8 | c.531-11C= (n.531-11C=)
| |
16 | g.84031979G>T | CA2634582734 | SLC38A8 | c.531-11C>A (n.531-11C>A)
| gnomAD v4 |
16 | g.84031980A>C | CA2634582735 | SLC38A8 | c.531-12T>G (n.531-12T>G)
| gnomAD v4 |
16 | g.84031981C>A | CA8200203 | SLC38A8 | c.531-13G>T (n.531-13G>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031981C= | CA2238382280 | SLC38A8 | c.531-13G= (n.531-13G=)
| |
16 | g.84031981C>G | CA2581278627 | SLC38A8 | c.531-13G>C (n.531-13G>C)
| |
16 | g.84031981C>T | CA8200202 | SLC38A8 | c.531-13G>A (n.531-13G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031982C>A | CA8200204 | SLC38A8 | c.531-14G>T (n.531-14G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.84031982C= | CA2238382281 | SLC38A8 | c.531-14G= (n.531-14G=)
| |
16 | g.84031982C>G | CA8200205 | SLC38A8 | c.531-14G>C (n.531-14G>C)
| ClinVar dbSNP ExAC gnomAD v2 |
16 | g.84031982C>T | CA8200206 | SLC38A8 | c.531-14G>A (n.531-14G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031983G>A | CA8200207 | SLC38A8 | c.531-15C>T (n.531-15C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031983G>C | CA2634582736 | SLC38A8 | c.531-15C>G (n.531-15C>G)
| gnomAD v4 |
16 | g.84031983G= | CA2238382282 | SLC38A8 | c.531-15C= (n.531-15C=)
| |
16 | g.84031983G>T | CA725007944 | SLC38A8 | c.531-15C>A (n.531-15C>A)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.84031984T>C | CA285457301 | SLC38A8 | c.531-16A>G (n.531-16A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031984T>G | CA2238382284 | SLC38A8 | c.531-16A>C (n.531-16A>C)
| dbSNP gnomAD v4 |
16 | g.84031984T= | CA2238382283 | SLC38A8 | c.531-16A= (n.531-16A=)
| |
16 | g.84031985G>A | CA2634582737 | SLC38A8 | c.531-17C>T (n.531-17C>T)
| gnomAD v4 |
16 | g.84031985G>C | CA2634582738 | SLC38A8 | c.531-17C>G (n.531-17C>G)
| gnomAD v4 |
16 | g.84031985G= | CA2238382285 | SLC38A8 | c.531-17C= (n.531-17C=)
| |
16 | g.84031985G>T | CA8200208 | SLC38A8 | c.531-17C>A (n.531-17C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.84031986T>A | CA2576121107 | SLC38A8 | c.531-18A>T (n.531-18A>T)
| gnomAD v4 |
16 | g.84031987G>A | CA2634582739 | SLC38A8 | c.531-19C>T (n.531-19C>T)
| ClinVar gnomAD v4 |
16 | g.84031987G>C | CA2634582740 | SLC38A8 | c.531-19C>G (n.531-19C>G)
| gnomAD v4 |
16 | g.84031988A>G | CA2634582741 | SLC38A8 | c.531-20T>C (n.531-20T>C)
| gnomAD v4 |
16 | g.84031989G>A | CA2238382287 | SLC38A8 | c.531-21C>T (n.531-21C>T)
| dbSNP |
16 | g.84031989G>C | CA623841701 | SLC38A8 | c.531-21C>G (n.531-21C>G)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.84031989G= | CA2238382286 | SLC38A8 | c.531-21C= (n.531-21C=)
| |
16 | g.84031990G>A | CA8200209 | SLC38A8 | c.531-22C>T (n.531-22C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.84031990G>C | CA8200210 | SLC38A8 | c.531-22C>G (n.531-22C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031990G= | CA2238382288 | SLC38A8 | c.531-22C= (n.531-22C=)
| |
16 | g.84031990G>T | CA979905386 | SLC38A8 | c.531-22C>A (n.531-22C>A)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.84031991G>A | CA8200211 | SLC38A8 | c.531-23C>T (n.531-23C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031991G= | CA2238382289 | SLC38A8 | c.531-23C= (n.531-23C=)
| |
16 | g.84031991G>T | CA725007956 | SLC38A8 | c.531-23C>A (n.531-23C>A)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.84031992G>A | CA8200212 | SLC38A8 | c.531-24C>T (n.531-24C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031992G= | CA2238382290 | SLC38A8 | c.531-24C= (n.531-24C=)
| |
16 | g.84031992G>T | CA623841704 | SLC38A8 | c.531-24C>A (n.531-24C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031993C>A | CA8200213 | SLC38A8 | c.531-25G>T (n.531-25G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031993C= | CA2238382291 | SLC38A8 | c.531-25G= (n.531-25G=)
| |
16 | g.84031993C>T | CA623841706 | SLC38A8 | c.531-25G>A (n.531-25G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031994T>A | CA725007963 | SLC38A8 | c.531-26A>T (n.531-26A>T)
| dbSNP |
16 | g.84031994T= | CA2238382292 | SLC38A8 | c.531-26A= (n.531-26A=)
| |
16 | g.84031995G>C | CA2807913786 | SLC38A8 | c.531-27C>G (n.531-27C>G)
| |
16 | g.84031995G>T | CA2576121108 | SLC38A8 | c.531-27C>A (n.531-27C>A)
| gnomAD v4 |
16 | g.84031996C>A | CA623841708 | SLC38A8 | c.531-28G>T (n.531-28G>T)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.84031996C= | CA2238382293 | SLC38A8 | c.531-28G= (n.531-28G=)
| |
16 | g.84031996C>T | CA8200214 | SLC38A8 | c.531-28G>A (n.531-28G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.84031997G>A | CA8200215 | SLC38A8 | c.531-29C>T (n.531-29C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84031997G= | CA2238382294 | SLC38A8 | c.531-29C= (n.531-29C=)
| |
16 | g.84031997G>T | CA2634582742 | SLC38A8 | c.531-29C>A (n.531-29C>A)
| gnomAD v4 |
16 | g.84031998C= | CA2238382295 | SLC38A8 | c.531-30G= (n.531-30G=)
| |
16 | g.84031998C>T | CA623841714 | SLC38A8 | c.531-30G>A (n.531-30G>A)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.84031999A= | CA2238382296 | SLC38A8 | c.531-31T= (n.531-31T=)
| |
16 | g.84031999A>G | CA8200216 | SLC38A8 | c.531-31T>C (n.531-31T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.84032000G>A | CA623841715 | SLC38A8 | c.531-32C>T (n.531-32C>T)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.84032000G= | CA2238382297 | SLC38A8 | c.531-32C= (n.531-32C=)
| |
16 | g.84032000G>T | CA2634582743 | SLC38A8 | c.531-32C>A (n.531-32C>A)
| gnomAD v4 |
16 | g.84032001T>C | CA2576121109 | SLC38A8 | c.531-33A>G (n.531-33A>G)
| gnomAD v4 |
16 | g.84032001T>G | CA2634582744 | SLC38A8 | c.531-33A>C (n.531-33A>C)
| gnomAD v4 |
16 | g.84032002G>A | CA2634582745 | SLC38A8 | c.531-34C>T (n.531-34C>T)
| gnomAD v4 |
16 | g.84032002G>C | CA2634582746 | SLC38A8 | c.531-34C>G (n.531-34C>G)
| gnomAD v4 |
16 | g.84032003G>A | CA2576121110 | SLC38A8 | c.531-35C>T (n.531-35C>T)
| |
16 | g.84032003G>C | CA2576121111 | SLC38A8 | c.531-35C>G (n.531-35C>G)
| |
16 | g.84032004G>A | CA8200217 | SLC38A8 | c.531-36C>T (n.531-36C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84032004G>C | CA2238382299 | SLC38A8 | c.531-36C>G (n.531-36C>G)
| dbSNP gnomAD v4 |
16 | g.84032004G= | CA2238382298 | SLC38A8 | c.531-36C= (n.531-36C=)
| |
16 | g.84032004G>T | CA8200218 | SLC38A8 | c.531-36C>A (n.531-36C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.84032005T>A | CA2238382301 | SLC38A8 | c.531-37A>T (n.531-37A>T)
| dbSNP |
16 | g.84032005T= | CA2238382300 | SLC38A8 | c.531-37A= (n.531-37A=)
| |
16 | g.84032006G>A | CA8200219 | SLC38A8 | c.531-38C>T (n.531-38C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.84032006G>C | CA2634582748 | SLC38A8 | c.531-38C>G (n.531-38C>G)
| gnomAD v4 |
16 | g.84032006G= | CA2238382302 | SLC38A8 | c.531-38C= (n.531-38C=)
| |
16 | g.84032006G>T | CA2634582747 | SLC38A8 | c.531-38C>A (n.531-38C>A)
| gnomAD v4 |
16 | g.84032007A= | CA2238382303 | SLC38A8 | c.531-39T= (n.531-39T=)
| |
16 | g.84032007A>G | CA623841718 | SLC38A8 | c.531-39T>C (n.531-39T>C)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.84032008C>A | CA623841719 | SLC38A8 | c.531-40G>T (n.531-40G>T)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.84032008C= | CA2238382304 | SLC38A8 | c.531-40G= (n.531-40G=)
| |
16 | g.84032009A= | CA2238382305 | SLC38A8 | c.531-41T= (n.531-41T=)
| |
16 | g.84032009A>C | CA623841720 | SLC38A8 | c.531-41T>G (n.531-41T>G)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.84032009A>T | CA2634582749 | SLC38A8 | c.531-41T>A (n.531-41T>A)
| gnomAD v4 |
16 | g.84032010T>C | CA623841721 | SLC38A8 | c.531-42A>G (n.531-42A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.84032010T>G | CA2238382307 | SLC38A8 | c.531-42A>C (n.531-42A>C)
| dbSNP |
16 | g.84032010T= | CA2238382306 | SLC38A8 | c.531-42A= (n.531-42A=)
| |