Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189565482C>ACA349988772SLC40A1c.632G>T (p.Trp211Leu)
c.512G>T (p.Trp171Leu)
2g.189565482C=CA1315655856SLC40A1c.632G= (p.Trp211=)
c.512G= (p.Trp171=)
2g.189565482C>GCA349988773SLC40A1c.632G>C (p.Trp211Ser)
c.512G>C (p.Trp171Ser)
2g.189565482C>TCA349988774SLC40A1c.632G>A (p.Trp211Ter)
c.512G>A (p.Trp171Ter)
 dbSNP gnomAD v3 gnomAD v4
2g.189565483A>CCA349988775SLC40A1c.631T>G (p.Trp211Gly)
c.511T>G (p.Trp171Gly)
2g.189565483A>GCA349988776SLC40A1c.631T>C (p.Trp211Arg)
c.511T>C (p.Trp171Arg)
2g.189565483A>TCA349988777SLC40A1c.631T>A (p.Trp211Arg)
c.511T>A (p.Trp171Arg)
2g.189565484T>ACA430502630SLC40A1c.630A>T (p.Gly210=)
c.510A>T (p.Gly170=)
2g.189565484T>CCA2024188SLC40A1c.630A>G (p.Gly210=)
c.510A>G (p.Gly170=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189565484T>GCA430502631SLC40A1c.630A>C (p.Gly210=)
c.510A>C (p.Gly170=)
 COSMIC
2g.189565484T=CA1315655861SLC40A1c.630A= (p.Gly210=)
c.510A= (p.Gly170=)
2g.189565485C>ACA349988778SLC40A1c.629G>T (p.Gly210Val)
c.509G>T (p.Gly170Val)
2g.189565485C=CA1315655863SLC40A1c.629G= (p.Gly210=)
c.509G= (p.Gly170=)
2g.189565485C>GCA62903058SLC40A1c.629G>C (p.Gly210Ala)
c.509G>C (p.Gly170Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189565485C>TCA349988779SLC40A1c.629G>A (p.Gly210Glu)
c.509G>A (p.Gly170Glu)
2g.189565486C>ACA349988781SLC40A1c.628G>T (p.Gly210Ter)
c.508G>T (p.Gly170Ter)
2g.189565486C>GCA349988782SLC40A1c.628G>C (p.Gly210Arg)
c.508G>C (p.Gly170Arg)
2g.189565486C>TCA349988780SLC40A1c.628G>A (p.Gly210Arg)
c.508G>A (p.Gly170Arg)
 COSMIC
2g.189565487C>ACA430502635SLC40A1c.627G>T (p.Ser209=)
c.507G>T (p.Ser169=)
2g.189565487C=CA1315655865SLC40A1c.627G= (p.Ser209=)
c.507G= (p.Ser169=)
2g.189565487C>GCA430502636SLC40A1c.627G>C (p.Ser209=)
c.507G>C (p.Ser169=)
2g.189565487C>TCA62903059SLC40A1c.627G>A (p.Ser209=)
c.507G>A (p.Ser169=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189565488G>ACA2024189SLC40A1c.626C>T (p.Ser209Leu)
c.506C>T (p.Ser169Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189565488G>CCA349988783SLC40A1c.626C>G (p.Ser209Trp)
c.506C>G (p.Ser169Trp)
 gnomAD v4
2g.189565488G=CA1315655871SLC40A1c.626C= (p.Ser209=)
c.506C= (p.Ser169=)
2g.189565488G>TCA349988784SLC40A1c.626C>A (p.Ser209Ter)
c.506C>A (p.Ser169Ter)
2g.189565489A>CCA349988785SLC40A1c.625T>G (p.Ser209Ala)
c.505T>G (p.Ser169Ala)
2g.189565489A>GCA349988786SLC40A1c.625T>C (p.Ser209Pro)
c.505T>C (p.Ser169Pro)
2g.189565489A>TCA349988787SLC40A1c.625T>A (p.Ser209Thr)
c.505T>A (p.Ser169Thr)
2g.189565490A>CCA349988788SLC40A1c.624T>G (p.Ile208Met)
c.504T>G (p.Ile168Met)
2g.189565490A>GCA430502641SLC40A1c.624T>C (p.Ile208=)
c.504T>C (p.Ile168=)
 gnomAD v4
2g.189565490A>TCA430502643SLC40A1c.624T>A (p.Ile208=)
c.504T>A (p.Ile168=)
2g.189565491A>CCA349988791SLC40A1c.623T>G (p.Ile208Ser)
c.503T>G (p.Ile168Ser)
 gnomAD v4
2g.189565491A>GCA349988789SLC40A1c.623T>C (p.Ile208Thr)
c.503T>C (p.Ile168Thr)
2g.189565491A>TCA349988790SLC40A1c.623T>A (p.Ile208Asn)
c.503T>A (p.Ile168Asn)
2g.189565492T>ACA349988792SLC40A1c.622A>T (p.Ile208Phe)
c.502A>T (p.Ile168Phe)
2g.189565492T>CCA349988793SLC40A1c.622A>G (p.Ile208Val)
c.502A>G (p.Ile168Val)
2g.189565492T>GCA349988794SLC40A1c.622A>C (p.Ile208Leu)
c.502A>C (p.Ile168Leu)
2g.189565493A>CCA349988795SLC40A1c.621T>G (p.Phe207Leu)
c.501T>G (p.Phe167Leu)
2g.189565493A>GCA430502648SLC40A1c.621T>C (p.Phe207=)
c.501T>C (p.Phe167=)
2g.189565493A>TCA349988796SLC40A1c.621T>A (p.Phe207Leu)
c.501T>A (p.Phe167Leu)
2g.189565494A>CCA349988797SLC40A1c.620T>G (p.Phe207Cys)
c.500T>G (p.Phe167Cys)
2g.189565494A>GCA349988799SLC40A1c.620T>C (p.Phe207Ser)
c.500T>C (p.Phe167Ser)
2g.189565494A>TCA349988798SLC40A1c.620T>A (p.Phe207Tyr)
c.500T>A (p.Phe167Tyr)
2g.189565495A>CCA349988800SLC40A1c.619T>G (p.Phe207Val)
c.499T>G (p.Phe167Val)
2g.189565495A>GCA349988801SLC40A1c.619T>C (p.Phe207Leu)
c.499T>C (p.Phe167Leu)
2g.189565495A>TCA349988802SLC40A1c.619T>A (p.Phe207Ile)
c.499T>A (p.Phe167Ile)
2g.189565496G>ACA430502655SLC40A1c.618C>T (p.Gly206=)
c.498C>T (p.Gly166=)
2g.189565496G>CCA430502656SLC40A1c.618C>G (p.Gly206=)
c.498C>G (p.Gly166=)
2g.189565496G>TCA430502657SLC40A1c.618C>A (p.Gly206=)
c.498C>A (p.Gly166=)
2g.189565497C>ACA349988803SLC40A1c.617G>T (p.Gly206Val)
c.497G>T (p.Gly166Val)
2g.189565497C>GCA349988804SLC40A1c.617G>C (p.Gly206Ala)
c.497G>C (p.Gly166Ala)
2g.189565497C>TCA349988805SLC40A1c.617G>A (p.Gly206Asp)
c.497G>A (p.Gly166Asp)
2g.189565498C>ACA349988806SLC40A1c.616G>T (p.Gly206Cys)
c.496G>T (p.Gly166Cys)
2g.189565498C=CA1315655875SLC40A1c.616G= (p.Gly206=)
c.496G= (p.Gly166=)
2g.189565498C>GCA349988807SLC40A1c.616G>C (p.Gly206Arg)
c.496G>C (p.Gly166Arg)
 ClinVar dbSNP
2g.189565498C>TCA2024190SLC40A1c.616G>A (p.Gly206Ser)
c.496G>A (p.Gly166Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.189565499A=CA1315655878SLC40A1c.615T= (p.Cys205=)
c.495T= (p.Cys165=)
2g.189565499A>CCA2024191SLC40A1c.615T>G (p.Cys205Trp)
c.495T>G (p.Cys165Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189565499A>GCA430502662SLC40A1c.615T>C (p.Cys205=)
c.495T>C (p.Cys165=)
 gnomAD v4
2g.189565499A>TCA349988808SLC40A1c.615T>A (p.Cys205Ter)
c.495T>A (p.Cys165Ter)
2g.189565500C>ACA349988811SLC40A1c.614G>T (p.Cys205Phe)
c.494G>T (p.Cys165Phe)
2g.189565500C>GCA349988810SLC40A1c.614G>C (p.Cys205Ser)
c.494G>C (p.Cys165Ser)
2g.189565500C>TCA349988809SLC40A1c.614G>A (p.Cys205Tyr)
c.494G>A (p.Cys165Tyr)
2g.189565501A>CCA349988812SLC40A1c.613T>G (p.Cys205Gly)
c.493T>G (p.Cys165Gly)
2g.189565501A>GCA349988814SLC40A1c.613T>C (p.Cys205Arg)
c.493T>C (p.Cys165Arg)
2g.189565501A>TCA349988813SLC40A1c.613T>A (p.Cys205Ser)
c.493T>A (p.Cys165Ser)
2g.189565502G>ACA430502670SLC40A1c.612C>T (p.Gly204=)
c.492C>T (p.Gly164=)
2g.189565502G>CCA430502667SLC40A1c.612C>G (p.Gly204=)
c.492C>G (p.Gly164=)
2g.189565502G>TCA430502668SLC40A1c.612C>A (p.Gly204=)
c.492C>A (p.Gly164=)
2g.189565503C>ACA349988815SLC40A1c.611G>T (p.Gly204Val)
c.491G>T (p.Gly164Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189565503C=CA1315655881SLC40A1c.611G= (p.Gly204=)
c.491G= (p.Gly164=)
2g.189565503C>GCA349988816SLC40A1c.611G>C (p.Gly204Ala)
c.491G>C (p.Gly164Ala)
2g.189565503C>TCA349988817SLC40A1c.611G>A (p.Gly204Asp)
c.491G>A (p.Gly164Asp)
 ClinVar
2g.189565504C>ACA349988818SLC40A1c.610G>T (p.Gly204Cys)
c.490G>T (p.Gly164Cys)
2g.189565504C=CA1315655883SLC40A1c.610G= (p.Gly204=)
c.490G= (p.Gly164=)
2g.189565504C>GCA349988819SLC40A1c.610G>C (p.Gly204Arg)
c.490G>C (p.Gly164Arg)
2g.189565504C>TCA215966SLC40A1c.610G>A (p.Gly204Ser)
c.490G>A (p.Gly164Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189565505G>ACA2024192SLC40A1c.609C>T (p.Ile203=)
c.489C>T (p.Ile163=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189565505G>CCA349988820SLC40A1c.609C>G (p.Ile203Met)
c.489C>G (p.Ile163Met)
2g.189565505G=CA1315655887SLC40A1c.609C= (p.Ile203=)
c.489C= (p.Ile163=)
2g.189565505G>TCA430502676SLC40A1c.609C>A (p.Ile203=)
c.489C>A (p.Ile163=)
2g.189565506A=CA1315655893SLC40A1c.608T= (p.Ile203=)
c.488T= (p.Ile163=)
2g.189565506A>CCA349988821SLC40A1c.608T>G (p.Ile203Ser)
c.488T>G (p.Ile163Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.189565506A>GCA349988822SLC40A1c.608T>C (p.Ile203Thr)
c.488T>C (p.Ile163Thr)
2g.189565506A>TCA349988823SLC40A1c.608T>A (p.Ile203Asn)
c.488T>A (p.Ile163Asn)
2g.189565507T>ACA349988825SLC40A1c.607A>T (p.Ile203Phe)
c.487A>T (p.Ile163Phe)
2g.189565507T>CCA2024193SLC40A1c.607A>G (p.Ile203Val)
c.487A>G (p.Ile163Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189565507T>GCA349988824SLC40A1c.607A>C (p.Ile203Leu)
c.487A>C (p.Ile163Leu)
2g.189565507T=CA1315655897SLC40A1c.607A= (p.Ile203=)
c.487A= (p.Ile163=)
2g.189565508G>ACA430502681SLC40A1c.606C>T (p.Val202=)
c.486C>T (p.Val162=)
 COSMIC
2g.189565508G>CCA430502680SLC40A1c.606C>G (p.Val202=)
c.486C>G (p.Val162=)
2g.189565508G>TCA430502682SLC40A1c.606C>A (p.Val202=)
c.486C>A (p.Val162=)
 gnomAD v4 COSMIC
2g.189565509A=CA1315655899SLC40A1c.605T= (p.Val202=)
c.485T= (p.Val162=)
2g.189565509A>CCA349988826SLC40A1c.605T>G (p.Val202Gly)
c.485T>G (p.Val162Gly)
2g.189565509A>GCA349988827SLC40A1c.605T>C (p.Val202Ala)
c.485T>C (p.Val162Ala)
 dbSNP
2g.189565509A>TCA349988828SLC40A1c.605T>A (p.Val202Asp)
c.485T>A (p.Val162Asp)
2g.189565510C>ACA349988829SLC40A1c.604G>T (p.Val202Phe)
c.484G>T (p.Val162Phe)
2g.189565510C=CA1315655901SLC40A1c.604G= (p.Val202=)
c.484G= (p.Val162=)
2g.189565510C>GCA349988830SLC40A1c.604G>C (p.Val202Leu)
c.484G>C (p.Val162Leu)
 dbSNP
2g.189565510C>TCA349988831SLC40A1c.604G>A (p.Val202Ile)
c.484G>A (p.Val162Ile)
 dbSNP
2g.189565511T>ACA430502686SLC40A1c.603A>T (p.Pro201=)
c.483A>T (p.Pro161=)
2g.189565511T>CCA430502687SLC40A1c.603A>G (p.Pro201=)
c.483A>G (p.Pro161=)
2g.189565511T>GCA2024194SLC40A1c.603A>C (p.Pro201=)
c.483A>C (p.Pro161=)
 dbSNP ExAC
2g.189565511T=CA1315655907SLC40A1c.603A= (p.Pro201=)
c.483A= (p.Pro161=)
2g.189565512G>ACA349988832SLC40A1c.602C>T (p.Pro201Leu)
c.482C>T (p.Pro161Leu)
 gnomAD v4
2g.189565512G>CCA349988833SLC40A1c.602C>G (p.Pro201Arg)
c.482C>G (p.Pro161Arg)
2g.189565512G>TCA349988834SLC40A1c.602C>A (p.Pro201Gln)
c.482C>A (p.Pro161Gln)
2g.189565513G>ACA349988835SLC40A1c.601C>T (p.Pro201Ser)
c.601C>T
c.481C>T (p.Pro161Ser)
2g.189565513G>CCA349988836SLC40A1c.601C>G (p.Pro201Ala)
c.601C>G
c.481C>G (p.Pro161Ala)
2g.189565513G>TCA349988837SLC40A1c.601C>A (p.Pro201Thr)
c.601C>A
c.481C>A (p.Pro161Thr)
2g.189565514G>ACA430502692SLC40A1c.600C>T (p.Ser200=)
c.480C>T (p.Ser160=)
2g.189565514G>CCA430502691SLC40A1c.600C>G (p.Ser200=)
c.480C>G (p.Ser160=)
2g.189565514G>TCA430502690SLC40A1c.600C>A (p.Ser200=)
c.480C>A (p.Ser160=)
2g.189565515G>ACA349988839SLC40A1c.599C>T (p.Ser200Phe)
c.479C>T (p.Ser160Phe)
 dbSNP
2g.189565515G>CCA349988840SLC40A1c.599C>G (p.Ser200Cys)
c.479C>G (p.Ser160Cys)
2g.189565515G=CA1315655910SLC40A1c.599C= (p.Ser200=)
c.479C= (p.Ser160=)
2g.189565515G>TCA349988838SLC40A1c.599C>A (p.Ser200Tyr)
c.479C>A (p.Ser160Tyr)
 dbSNP gnomAD v3 gnomAD v4
2g.189565516A>CCA349988841SLC40A1c.598T>G (p.Ser200Ala)
c.478T>G (p.Ser160Ala)
2g.189565516A>GCA349988843SLC40A1c.598T>C (p.Ser200Pro)
c.478T>C (p.Ser160Pro)
2g.189565516A>TCA349988842SLC40A1c.598T>A (p.Ser200Thr)
c.478T>A (p.Ser160Thr)
2g.189565517G>ACA430502697SLC40A1c.597C>T (p.Gly199=)
c.477C>T (p.Gly159=)
2g.189565517G>CCA430502699SLC40A1c.597C>G (p.Gly199=)
c.477C>G (p.Gly159=)
2g.189565517G>TCA430502698SLC40A1c.597C>A (p.Gly199=)
c.477C>A (p.Gly159=)
2g.189565518C>ACA349988844SLC40A1c.596G>T (p.Gly199Val)
c.476G>T (p.Gly159Val)
2g.189565518C>GCA349988846SLC40A1c.596G>C (p.Gly199Ala)
c.476G>C (p.Gly159Ala)
 gnomAD v4
2g.189565518C>TCA349988845SLC40A1c.596G>A (p.Gly199Asp)
c.476G>A (p.Gly159Asp)
2g.189565519C>ACA349988847SLC40A1c.595G>T (p.Gly199Cys)
c.475G>T (p.Gly159Cys)
2g.189565519C=CA1315655913SLC40A1c.595G= (p.Gly199=)
c.475G= (p.Gly159=)
2g.189565519C>GCA349988849SLC40A1c.595G>C (p.Gly199Arg)
c.475G>C (p.Gly159Arg)
2g.189565519C>TCA349988848SLC40A1c.595G>A (p.Gly199Ser)
c.475G>A (p.Gly159Ser)
 dbSNP
2g.189565520A>CCA349988850SLC40A1c.594T>G (p.Phe198Leu)
c.474T>G (p.Phe158Leu)
2g.189565520A>GCA430502701SLC40A1c.594T>C (p.Phe198=)
c.474T>C (p.Phe158=)
2g.189565520A>TCA349988851SLC40A1c.594T>A (p.Phe198Leu)
c.474T>A (p.Phe158Leu)
2g.189565521A>CCA349988852SLC40A1c.593T>G (p.Phe198Cys)
c.473T>G (p.Phe158Cys)
 COSMIC
2g.189565521A>GCA349988853SLC40A1c.593T>C (p.Phe198Ser)
c.473T>C (p.Phe158Ser)
2g.189565521A>TCA349988854SLC40A1c.593T>A (p.Phe198Tyr)
c.473T>A (p.Phe158Tyr)
2g.189565522A=CA1315655916SLC40A1c.592T= (p.Phe198=)
c.472T= (p.Phe158=)
2g.189565522A>CCA349988855SLC40A1c.592T>G (p.Phe198Val)
c.472T>G (p.Phe158Val)
 dbSNP
2g.189565522A>GCA349988856SLC40A1c.592T>C (p.Phe198Leu)
c.472T>C (p.Phe158Leu)
2g.189565522A>TCA349988857SLC40A1c.592T>A (p.Phe198Ile)
c.472T>A (p.Phe158Ile)
2g.189565523T>ACA430502708SLC40A1c.591A>T (p.Thr197=)
c.471A>T (p.Thr157=)
2g.189565523T>CCA430502711SLC40A1c.591A>G (p.Thr197=)
c.471A>G (p.Thr157=)
 dbSNP
2g.189565523T>GCA430502712SLC40A1c.591A>C (p.Thr197=)
c.471A>C (p.Thr157=)
2g.189565523T=CA1315655918SLC40A1c.591A= (p.Thr197=)
c.471A= (p.Thr157=)
2g.189565524G>ACA349988858SLC40A1c.590C>T (p.Thr197Ile)
c.470C>T (p.Thr157Ile)
2g.189565524G>CCA349988859SLC40A1c.590C>G (p.Thr197Arg)
c.470C>G (p.Thr157Arg)
2g.189565524G>TCA349988860SLC40A1c.590C>A (p.Thr197Lys)
c.470C>A (p.Thr157Lys)
2g.189565525T>ACA349988863SLC40A1c.589A>T (p.Thr197Ser)
c.469A>T (p.Thr157Ser)
 ClinVar
2g.189565525T>CCA349988862SLC40A1c.589A>G (p.Thr197Ala)
c.469A>G (p.Thr157Ala)
 gnomAD v4
2g.189565525T>GCA349988861SLC40A1c.589A>C (p.Thr197Pro)
c.469A>C (p.Thr157Pro)
2g.189565526C>ACA349988864SLC40A1c.588G>T (p.Met196Ile)
c.468G>T (p.Met156Ile)
2g.189565526C=CA1315655920SLC40A1c.588G= (p.Met196=)
c.468G= (p.Met156=)
2g.189565526C>GCA349988865SLC40A1c.588G>C (p.Met196Ile)
c.468G>C (p.Met156Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.189565526C>TCA349988866SLC40A1c.588G>A (p.Met196Ile)
c.468G>A (p.Met156Ile)
2g.189565527A>CCA349988867SLC40A1c.587T>G (p.Met196Arg)
c.467T>G (p.Met156Arg)
2g.189565527A>GCA349988868SLC40A1c.587T>C (p.Met196Thr)
c.467T>C (p.Met156Thr)
2g.189565527A>TCA349988869SLC40A1c.587T>A (p.Met196Lys)
c.467T>A (p.Met156Lys)
2g.189565528T>ACA349988870SLC40A1c.586A>T (p.Met196Leu)
c.466A>T (p.Met156Leu)
2g.189565528T>CCA349988871SLC40A1c.586A>G (p.Met196Val)
c.466A>G (p.Met156Val)
2g.189565528T>GCA349988872SLC40A1c.586A>C (p.Met196Leu)
c.466A>C (p.Met156Leu)
2g.189565529A=CA1315645017SLC40A1c.585T= (p.Ile195=)
c.465T= (p.Ile155=)
2g.189565529A>CCA349988873SLC40A1c.585T>G (p.Ile195Met)
c.465T>G (p.Ile155Met)
 gnomAD v4
2g.189565529A>GCA2024195SLC40A1c.585T>C (p.Ile195=)
c.465T>C (p.Ile155=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189565529A>TCA430502729SLC40A1c.585T>A (p.Ile195=)
c.465T>A (p.Ile155=)
2g.189565530A>CCA349988876SLC40A1c.584T>G (p.Ile195Ser)
c.464T>G (p.Ile155Ser)
2g.189565530A>GCA349988875SLC40A1c.584T>C (p.Ile195Thr)
c.464T>C (p.Ile155Thr)
2g.189565530A>TCA349988874SLC40A1c.584T>A (p.Ile195Asn)
c.464T>A (p.Ile155Asn)
2g.189565531T>ACA349988877SLC40A1c.583A>T (p.Ile195Phe)
c.463A>T (p.Ile155Phe)
2g.189565531T>CCA349988878SLC40A1c.583A>G (p.Ile195Val)
c.463A>G (p.Ile155Val)
2g.189565531T>GCA349988879SLC40A1c.583A>C (p.Ile195Leu)
c.463A>C (p.Ile155Leu)
2g.189565532C>ACA349988880SLC40A1c.582G>T (p.Gln194His)
c.462G>T (p.Gln154His)
2g.189565532C=CA1315645019SLC40A1c.582G= (p.Gln194=)
c.462G= (p.Gln154=)
2g.189565532C>GCA2024196SLC40A1c.582G>C (p.Gln194His)
c.462G>C (p.Gln154His)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.189565532C>TCA430502735SLC40A1c.582G>A (p.Gln194=)
c.462G>A (p.Gln154=)
2g.189565533T>ACA349988881SLC40A1c.581A>T (p.Gln194Leu)
c.461A>T (p.Gln154Leu)
2g.189565533T>CCA349988882SLC40A1c.581A>G (p.Gln194Arg)
c.461A>G (p.Gln154Arg)
2g.189565533T>GCA349988883SLC40A1c.581A>C (p.Gln194Pro)
c.461A>C (p.Gln154Pro)
2g.189565534G>ACA349988884SLC40A1c.580C>T (p.Gln194Ter)
c.460C>T (p.Gln154Ter)
2g.189565534G>CCA349988885SLC40A1c.580C>G (p.Gln194Glu)
c.460C>G (p.Gln154Glu)
2g.189565534G>TCA349988886SLC40A1c.580C>A (p.Gln194Lys)
c.460C>A (p.Gln154Lys)
2g.189565535G>ACA430502742SLC40A1c.579C>T (p.Gly193=)
c.459C>T (p.Gly153=)
 dbSNP gnomAD v2 gnomAD v4
2g.189565535G>CCA430502744SLC40A1c.579C>G (p.Gly193=)
c.459C>G (p.Gly153=)
2g.189565535G=CA1315645021SLC40A1c.579C= (p.Gly193=)
c.459C= (p.Gly153=)
2g.189565535G>TCA430502745SLC40A1c.579C>A (p.Gly193=)
c.459C>A (p.Gly153=)
2g.189565536C>ACA349988889SLC40A1c.578G>T (p.Gly193Val)
c.458G>T (p.Gly153Val)
2g.189565536C>GCA349988888SLC40A1c.578G>C (p.Gly193Ala)
c.458G>C (p.Gly153Ala)
2g.189565536C>TCA349988887SLC40A1c.578G>A (p.Gly193Asp)
c.458G>A (p.Gly153Asp)
2g.189565537C>ACA349988890SLC40A1c.577G>T (p.Gly193Cys)
c.457G>T (p.Gly153Cys)
 COSMIC
2g.189565537C>GCA349988891SLC40A1c.577G>C (p.Gly193Arg)
c.457G>C (p.Gly153Arg)
2g.189565537C>TCA349988892SLC40A1c.577G>A (p.Gly193Ser)
c.457G>A (p.Gly153Ser)
2g.189565538A>CCA430502756SLC40A1c.576T>G (p.Val192=)
c.456T>G (p.Val152=)
2g.189565538A>GCA430502763SLC40A1c.576T>C (p.Val192=)
c.456T>C (p.Val152=)
2g.189565538A>TCA430502762SLC40A1c.576T>A (p.Val192=)
c.456T>A (p.Val152=)
2g.189565539A>CCA349988893SLC40A1c.575T>G (p.Val192Gly)
c.455T>G (p.Val152Gly)
2g.189565539A>GCA349988894SLC40A1c.575T>C (p.Val192Ala)
c.455T>C (p.Val152Ala)
2g.189565539A>TCA349988895SLC40A1c.575T>A (p.Val192Asp)
c.455T>A (p.Val152Asp)
2g.189565540C>ACA349988896SLC40A1c.574G>T (p.Val192Phe)
c.454G>T (p.Val152Phe)
2g.189565540C=CA1315645023SLC40A1c.574G= (p.Val192=)
c.454G= (p.Val152=)
2g.189565540C>GCA349988897SLC40A1c.574G>C (p.Val192Leu)
c.454G>C (p.Val152Leu)
 dbSNP
2g.189565540C>TCA349988898SLC40A1c.574G>A (p.Val192Ile)
c.454G>A (p.Val152Ile)
 gnomAD v4
2g.189565541A>CCA430502766SLC40A1c.573T>G (p.Ala191=)
c.453T>G (p.Ala151=)
2g.189565541A>GCA430502768SLC40A1c.573T>C (p.Ala191=)
c.453T>C (p.Ala151=)
2g.189565541A>TCA430502770SLC40A1c.573T>A (p.Ala191=)
c.453T>A (p.Ala151=)
2g.189565542G>ACA349988899SLC40A1c.572C>T (p.Ala191Val)
c.452C>T (p.Ala151Val)
2g.189565542G>CCA349988900SLC40A1c.572C>G (p.Ala191Gly)
c.452C>G (p.Ala151Gly)
2g.189565542G>TCA349988901SLC40A1c.572C>A (p.Ala191Asp)
c.452C>A (p.Ala151Asp)
2g.189565543C>ACA349988904SLC40A1c.571G>T (p.Ala191Ser)
c.451G>T (p.Ala151Ser)
2g.189565543C=CA1315645025SLC40A1c.571G= (p.Ala191=)
c.451G= (p.Ala151=)
2g.189565543C>GCA349988903SLC40A1c.571G>C (p.Ala191Pro)
c.451G>C (p.Ala151Pro)
2g.189565543C>TCA349988902SLC40A1c.571G>A (p.Ala191Thr)
c.451G>A (p.Ala151Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.189565544C>ACA349988905SLC40A1c.570G>T (p.Met190Ile)
c.450G>T (p.Met150Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.189565544C=CA1315645028SLC40A1c.570G= (p.Met190=)
c.450G= (p.Met150=)
2g.189565544C>GCA349988906SLC40A1c.570G>C (p.Met190Ile)
c.450G>C (p.Met150Ile)
2g.189565544C>TCA349988907SLC40A1c.570G>A (p.Met190Ile)
c.450G>A (p.Met150Ile)
2g.189565545A=CA1315645030SLC40A1c.569T= (p.Met190=)
c.449T= (p.Met150=)
2g.189565545A>CCA349988908SLC40A1c.569T>G (p.Met190Arg)
c.449T>G (p.Met150Arg)
2g.189565545A>GCA349988909SLC40A1c.569T>C (p.Met190Thr)
c.449T>C (p.Met150Thr)
 dbSNP gnomAD v4
2g.189565545A>TCA349988910SLC40A1c.569T>A (p.Met190Lys)
c.449T>A (p.Met150Lys)
2g.189565546T>ACA349988911SLC40A1c.568A>T (p.Met190Leu)
c.448A>T (p.Met150Leu)
2g.189565546T>CCA349988912SLC40A1c.568A>G (p.Met190Val)
c.448A>G (p.Met150Val)
 dbSNP gnomAD v3 gnomAD v4
2g.189565546T>GCA349988913SLC40A1c.568A>C (p.Met190Leu)
c.448A>C (p.Met150Leu)
2g.189565546T=CA1315645032SLC40A1c.568A= (p.Met190=)
c.448A= (p.Met150=)
2g.189565547G>ACA62903060SLC40A1c.567C>T (p.Pro189=)
c.447C>T (p.Pro149=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189565547G>CCA430502781SLC40A1c.567C>G (p.Pro189=)
c.447C>G (p.Pro149=)
2g.189565547G=CA1315645034SLC40A1c.567C= (p.Pro189=)
c.447C= (p.Pro149=)
2g.189565547G>TCA430502782SLC40A1c.567C>A (p.Pro189=)
c.447C>A (p.Pro149=)
2g.189565548G>ACA349988914SLC40A1c.566C>T (p.Pro189Leu)
c.446C>T (p.Pro149Leu)
 COSMIC
2g.189565548G>CCA349988915SLC40A1c.566C>G (p.Pro189Arg)
c.446C>G (p.Pro149Arg)
2g.189565548G>TCA349988916SLC40A1c.566C>A (p.Pro189His)
c.446C>A (p.Pro149His)
2g.189565549G>ACA349988919SLC40A1c.565C>T (p.Pro189Ser)
c.445C>T (p.Pro149Ser)
2g.189565549G>CCA349988918SLC40A1c.565C>G (p.Pro189Ala)
c.445C>G (p.Pro149Ala)
2g.189565549G>TCA349988917SLC40A1c.565C>A (p.Pro189Thr)
c.445C>A (p.Pro149Thr)
2g.189565550G>ACA430502787SLC40A1c.564C>T (p.Ala188=)
c.444C>T (p.Ala148=)
 ClinVar gnomAD v4 COSMIC
2g.189565550G>CCA430502789SLC40A1c.564C>G (p.Ala188=)
c.444C>G (p.Ala148=)
2g.189565550G>TCA430502791SLC40A1c.564C>A (p.Ala188=)
c.444C>A (p.Ala148=)
2g.189565551G>ACA349988920SLC40A1c.563C>T (p.Ala188Val)
c.443C>T (p.Ala148Val)
 gnomAD v4
2g.189565551G>CCA349988921SLC40A1c.563C>G (p.Ala188Gly)
c.443C>G (p.Ala148Gly)
2g.189565551G>TCA349988922SLC40A1c.563C>A (p.Ala188Asp)
c.443C>A (p.Ala148Asp)
2g.189565552C>ACA349988923SLC40A1c.562G>T (p.Ala188Ser)
c.442G>T (p.Ala148Ser)
2g.189565552C>GCA349988924SLC40A1c.562G>C (p.Ala188Pro)
c.442G>C (p.Ala148Pro)
2g.189565552C>TCA349988925SLC40A1c.562G>A (p.Ala188Thr)
c.442G>A (p.Ala148Thr)
 ClinVar gnomAD v4
2g.189565553T>ACA349988926SLC40A1c.561A>T (p.Leu187Phe)
c.441A>T (p.Leu147Phe)
2g.189565553T>CCA430502793SLC40A1c.561A>G (p.Leu187=)
c.441A>G (p.Leu147=)
2g.189565553T>GCA349988927SLC40A1c.561A>C (p.Leu187Phe)
c.441A>C (p.Leu147Phe)
2g.189565554A=CA1315645036SLC40A1c.560T= (p.Leu187=)
c.440T= (p.Leu147=)
2g.189565554A>CCA349988928SLC40A1c.560T>G (p.Leu187Ter)
c.440T>G (p.Leu147Ter)
2g.189565554A>GCA349988929SLC40A1c.560T>C (p.Leu187Ser)
c.440T>C (p.Leu147Ser)
2g.189565554A>TCA62903061SLC40A1c.560T>A (p.Leu187Ter)
c.440T>A (p.Leu147Ter)
 dbSNP
2g.189565555A>CCA349988930SLC40A1c.559T>G (p.Leu187Val)
c.439T>G (p.Leu147Val)
2g.189565555A>GCA430502799SLC40A1c.559T>C (p.Leu187=)
c.439T>C (p.Leu147=)
2g.189565555A>TCA349988931SLC40A1c.559T>A (p.Leu187Ile)
c.439T>A (p.Leu147Ile)
2g.189565556G>ACA430502802SLC40A1c.558C>T (p.Ile186=)
c.438C>T (p.Ile146=)
2g.189565556G>CCA349988932SLC40A1c.558C>G (p.Ile186Met)
c.438C>G (p.Ile146Met)
2g.189565556G>TCA430502803SLC40A1c.558C>A (p.Ile186=)
c.438C>A (p.Ile146=)
2g.189565557A>CCA349988934SLC40A1c.557T>G (p.Ile186Ser)
c.437T>G (p.Ile146Ser)
2g.189565557A>GCA349988935SLC40A1c.557T>C (p.Ile186Thr)
c.437T>C (p.Ile146Thr)
 gnomAD v4
2g.189565557A>TCA349988933SLC40A1c.557T>A (p.Ile186Asn)
c.437T>A (p.Ile146Asn)
2g.189565558T>ACA349988936SLC40A1c.556A>T (p.Ile186Phe)
c.436A>T (p.Ile146Phe)
2g.189565558T>CCA349988937SLC40A1c.556A>G (p.Ile186Val)
c.436A>G (p.Ile146Val)
 dbSNP gnomAD v2 gnomAD v4
2g.189565558T>GCA349988938SLC40A1c.556A>C (p.Ile186Leu)
c.436A>C (p.Ile146Leu)
2g.189565558T=CA1315645040SLC40A1c.556A= (p.Ile186=)
c.436A= (p.Ile146=)
2g.189565559G>ACA430502806SLC40A1c.555C>T (p.Asn185=)
c.435C>T (p.Asn145=)
 dbSNP gnomAD v2 gnomAD v4
2g.189565559G>CCA349988939SLC40A1c.555C>G (p.Asn185Lys)
c.435C>G (p.Asn145Lys)
2g.189565559G=CA1315645044SLC40A1c.555C= (p.Asn185=)
c.435C= (p.Asn145=)
2g.189565559G>TCA349988940SLC40A1c.555C>A (p.Asn185Lys)
c.435C>A (p.Asn145Lys)
2g.189565560T>ACA349988941SLC40A1c.554A>T (p.Asn185Ile)
c.434A>T (p.Asn145Ile)
2g.189565560T>CCA349988942SLC40A1c.554A>G (p.Asn185Ser)
c.434A>G (p.Asn145Ser)
 gnomAD v4
2g.189565560T>GCA349988943SLC40A1c.554A>C (p.Asn185Thr)
c.434A>C (p.Asn145Thr)
 ClinVar dbSNP
2g.189565561T>ACA349988944SLC40A1c.553A>T (p.Asn185Tyr)
c.433A>T (p.Asn145Tyr)
2g.189565561T>CCA215963SLC40A1c.553A>G (p.Asn185Asp)
c.433A>G (p.Asn145Asp)
 ClinVar dbSNP
2g.189565561T>GCA349988945SLC40A1c.553A>C (p.Asn185His)
c.433A>C (p.Asn145His)
2g.189565561T=CA1315645049SLC40A1c.553A= (p.Asn185=)
c.433A= (p.Asn145=)
2g.189565562G>ACA430502818SLC40A1c.552C>T (p.Thr184=)
c.432C>T (p.Thr144=)
 COSMIC
2g.189565562G>CCA430502819SLC40A1c.552C>G (p.Thr184=)
c.432C>G (p.Thr144=)
 dbSNP gnomAD v3 gnomAD v4
2g.189565562G=CA1315645053SLC40A1c.552C= (p.Thr184=)
c.432C= (p.Thr144=)
2g.189565562G>TCA430502820SLC40A1c.552C>A (p.Thr184=)
c.432C>A (p.Thr144=)
 dbSNP gnomAD v2 gnomAD v4
2g.189565563G>ACA349988948SLC40A1c.551C>T (p.Thr184Ile)
c.431C>T (p.Thr144Ile)
2g.189565563G>CCA349988947SLC40A1c.551C>G (p.Thr184Ser)
c.431C>G (p.Thr144Ser)
2g.189565563G>TCA349988946SLC40A1c.551C>A (p.Thr184Asn)
c.431C>A (p.Thr144Asn)
2g.189565564T>ACA349988949SLC40A1c.550A>T (p.Thr184Ser)
c.430A>T (p.Thr144Ser)
2g.189565564T>CCA349988950SLC40A1c.550A>G (p.Thr184Ala)
c.430A>G (p.Thr144Ala)
2g.189565564T>GCA349988951SLC40A1c.550A>C (p.Thr184Pro)
c.430A>C (p.Thr144Pro)
2g.189565565T>ACA349988952SLC40A1c.549A>T (p.Leu183Phe)
c.429A>T (p.Leu143Phe)
2g.189565565T>CCA430502829SLC40A1c.549A>G (p.Leu183=)
c.429A>G (p.Leu143=)
 gnomAD v4
2g.189565565T>GCA349988953SLC40A1c.549A>C (p.Leu183Phe)
c.429A>C (p.Leu143Phe)
 gnomAD v4
2g.189565566A>CCA349988954SLC40A1c.548T>G (p.Leu183Ter)
c.428T>G (p.Leu143Ter)
2g.189565566A>GCA349988955SLC40A1c.548T>C (p.Leu183Ser)
c.428T>C (p.Leu143Ser)
2g.189565566A>TCA349988956SLC40A1c.548T>A (p.Leu183Ter)
c.428T>A (p.Leu143Ter)
2g.189565567A>CCA349988957SLC40A1c.547T>G (p.Leu183Val)
c.427T>G (p.Leu143Val)
2g.189565567A>GCA430502842SLC40A1c.547T>C (p.Leu183=)
c.427T>C (p.Leu143=)
2g.189565567A>TCA349988958SLC40A1c.547T>A (p.Leu183Ile)
c.427T>A (p.Leu143Ile)
2g.189565568C>ACA117521SLC40A1c.546G>T (p.Gln182His)
c.426G>T (p.Gln142His)
 ClinVar dbSNP
2g.189565568C=CA1315645059SLC40A1c.546G= (p.Gln182=)
c.426G= (p.Gln142=)
2g.189565568C>GCA349988959SLC40A1c.546G>C (p.Gln182His)
c.426G>C (p.Gln142His)
2g.189565568C>TCA430502844SLC40A1c.546G>A (p.Gln182=)
c.426G>A (p.Gln142=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189565569T>ACA349988962SLC40A1c.545A>T (p.Gln182Leu)
c.425A>T (p.Gln142Leu)
2g.189565569T>CCA349988961SLC40A1c.545A>G (p.Gln182Arg)
c.425A>G (p.Gln142Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.189565569T>GCA349988960SLC40A1c.545A>C (p.Gln182Pro)
c.425A>C (p.Gln142Pro)
2g.189565569T=CA1315645071SLC40A1c.545A= (p.Gln182=)
c.425A= (p.Gln142=)
2g.189565570G>ACA349988963SLC40A1c.544C>T (p.Gln182Ter)
c.424C>T (p.Gln142Ter)
2g.189565570G>CCA349988964SLC40A1c.544C>G (p.Gln182Glu)
c.424C>G (p.Gln142Glu)
 ClinVar dbSNP
2g.189565570G=CA1315645075SLC40A1c.544C= (p.Gln182=)
c.424C= (p.Gln142=)
2g.189565570G>TCA349988965SLC40A1c.544C>A (p.Gln182Lys)
c.424C>A (p.Gln142Lys)
2g.189565571G>ACA430502801SLC40A1c.543C>T (p.Asp181=)
c.423C>T (p.Asp141=)
 gnomAD v4
2g.189565571G>CCA349988966SLC40A1c.543C>G (p.Asp181Glu)
c.423C>G (p.Asp141Glu)
2g.189565571G>TCA349988967SLC40A1c.543C>A (p.Asp181Glu)
c.423C>A (p.Asp141Glu)
2g.189565572T>ACA117525SLC40A1c.542A>T (p.Asp181Val)
c.422A>T (p.Asp141Val)
 ClinVar dbSNP gnomAD v4
2g.189565572T>CCA349988968SLC40A1c.542A>G (p.Asp181Gly)
c.422A>G (p.Asp141Gly)
2g.189565572T>GCA349988969SLC40A1c.542A>C (p.Asp181Ala)
c.422A>C (p.Asp141Ala)
2g.189565572T=CA1315645080SLC40A1c.542A= (p.Asp181=)
c.422A= (p.Asp141=)
2g.189565573C>ACA349988970SLC40A1c.541G>T (p.Asp181Tyr)
c.421G>T (p.Asp141Tyr)
2g.189565573C=CA1315645087SLC40A1c.541G= (p.Asp181=)
c.421G= (p.Asp141=)
2g.189565573C>GCA349988972SLC40A1c.541G>C (p.Asp181His)
c.421G>C (p.Asp141His)
2g.189565573C>TCA349988971SLC40A1c.541G>A (p.Asp181Asn)
c.421G>A (p.Asp141Asn)
 ClinVar dbSNP
2g.189565574A>CCA349988973SLC40A1c.540T>G (p.Ile180Met)
c.420T>G (p.Ile140Met)
2g.189565574A>GCA430502810SLC40A1c.540T>C (p.Ile180=)
c.420T>C (p.Ile140=)
2g.189565574A>TCA430502812SLC40A1c.540T>A (p.Ile180=)
c.420T>A (p.Ile140=)
2g.189565575A=CA1315645090SLC40A1c.539T= (p.Ile180=)
c.419T= (p.Ile140=)
2g.189565575A>CCA349988974SLC40A1c.539T>G (p.Ile180Ser)
c.419T>G (p.Ile140Ser)
2g.189565575A>GCA2024197SLC40A1c.539T>C (p.Ile180Thr)
c.419T>C (p.Ile140Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189565575A>TCA349988975SLC40A1c.539T>A (p.Ile180Asn)
c.419T>A (p.Ile140Asn)
2g.189565576T>ACA349988978SLC40A1c.538A>T (p.Ile180Phe)
c.418A>T (p.Ile140Phe)
 gnomAD v4
2g.189565576T>CCA349988976SLC40A1c.538A>G (p.Ile180Val)
c.418A>G (p.Ile140Val)
2g.189565576T>GCA349988977SLC40A1c.538A>C (p.Ile180Leu)
c.418A>C (p.Ile140Leu)
2g.189565577C>ACA349988979SLC40A1c.537G>T (p.Arg179Ser)
c.417G>T (p.Arg139Ser)
2g.189565577C>GCA349988980SLC40A1c.537G>C (p.Arg179Ser)
c.417G>C (p.Arg139Ser)
2g.189565577C>TCA430502821SLC40A1c.537G>A (p.Arg179=)
c.417G>A (p.Arg139=)
 gnomAD v4
2g.189565578C>ACA349988981SLC40A1c.536G>T (p.Arg179Met)
c.416G>T (p.Arg139Met)
2g.189565578C=CA1315645096SLC40A1c.536G= (p.Arg179=)
c.416G= (p.Arg139=)
2g.189565578C>GCA2024198SLC40A1c.536G>C (p.Arg179Thr)
c.416G>C (p.Arg139Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189565578C>TCA349988982SLC40A1c.536G>A (p.Arg179Lys)
c.416G>A (p.Arg139Lys)
 dbSNP gnomAD v2 gnomAD v4
2g.189565579T>ACA349988983SLC40A1c.535A>T (p.Arg179Trp)
c.415A>T (p.Arg139Trp)
2g.189565579T>CCA349988984SLC40A1c.535A>G (p.Arg179Gly)
c.415A>G (p.Arg139Gly)
2g.189565579T>GCA430502828SLC40A1c.535A>C (p.Arg179=)
c.415A>C (p.Arg139=)
2g.189565580T>ACA430502831SLC40A1c.534A>T (p.Arg178=)
c.414A>T (p.Arg138=)
2g.189565580T>CCA430502833SLC40A1c.534A>G (p.Arg178=)
c.414A>G (p.Arg138=)
2g.189565580T>GCA430502836SLC40A1c.534A>C (p.Arg178=)
c.414A>C (p.Arg138=)
2g.189565581C>ACA349988985SLC40A1c.533G>T (p.Arg178Leu)
c.413G>T (p.Arg138Leu)
2g.189565581C=CA1315645101SLC40A1c.533G= (p.Arg178=)
c.413G= (p.Arg138=)
2g.189565581C>GCA349988986SLC40A1c.533G>C (p.Arg178Pro)
c.413G>C (p.Arg138Pro)
2g.189565581C>TCA349988987SLC40A1c.533G>A (p.Arg178Gln)
c.413G>A (p.Arg138Gln)
 ClinVar dbSNP
2g.189565582G>ACA62903062SLC40A1c.532C>T (p.Arg178Ter)
c.412C>T (p.Arg138Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.189565582G>CCA349988988SLC40A1c.532C>G (p.Arg178Gly)
c.412C>G (p.Arg138Gly)
 ClinVar dbSNP
2g.189565582G=CA1315645107SLC40A1c.532C= (p.Arg178=)
c.412C= (p.Arg138=)
2g.189565582G>TCA430502843SLC40A1c.532C>A (p.Arg178=)
c.412C>A (p.Arg138=)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched