Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.189575230C>A | CA349989734 | SLC40A1 | c.202G>T (p.Val68Leu) n.643G>T n.483G>T c.82G>T (p.Val28Leu) | |
2 | g.189575230C>G | CA349989736 | SLC40A1 | c.202G>C (p.Val68Leu) n.643G>C n.483G>C c.82G>C (p.Val28Leu) | gnomAD v4 |
2 | g.189575230C>T | CA349989735 | SLC40A1 | c.202G>A (p.Val68Met) n.643G>A n.483G>A c.82G>A (p.Val28Met) | |
2 | g.189575231C>A | CA430367536 | SLC40A1 | c.201G>T (p.Val67=) n.642G>T n.482G>T c.81G>T (p.Val27=) | gnomAD v4 |
2 | g.189575231C>G | CA430367537 | SLC40A1 | c.201G>C (p.Val67=) n.642G>C n.482G>C c.81G>C (p.Val27=) | |
2 | g.189575231C>T | CA430367538 | SLC40A1 | c.201G>A (p.Val67=) n.642G>A n.482G>A c.81G>A (p.Val27=) | |
2 | g.189575232A>C | CA349989737 | SLC40A1 | c.200T>G (p.Val67Gly) n.641T>G n.481T>G c.80T>G (p.Val27Gly) | |
2 | g.189575232A>G | CA349989739 | SLC40A1 | c.200T>C (p.Val67Ala) n.641T>C n.481T>C c.80T>C (p.Val27Ala) | |
2 | g.189575232A>T | CA349989738 | SLC40A1 | c.200T>A (p.Val67Glu) n.641T>A n.481T>A c.80T>A (p.Val27Glu) | |
2 | g.189575233C>A | CA349989740 | SLC40A1 | c.199G>T (p.Val67Leu) n.640G>T n.480G>T c.79G>T (p.Val27Leu) | |
2 | g.189575233C= | CA1315653719 | SLC40A1 | c.199G= (p.Val67=) n.640G= n.480G= c.79G= (p.Val27=) | |
2 | g.189575233C>G | CA349989741 | SLC40A1 | c.199G>C (p.Val67Leu) n.640G>C n.480G>C c.79G>C (p.Val27Leu) | |
2 | g.189575233C>T | CA62904040 | SLC40A1 | c.199G>A (p.Val67Met) n.640G>A n.480G>A c.79G>A (p.Val27Met) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189575234C>A | CA430367541 | SLC40A1 | c.198G>T (p.Leu66=) n.639G>T n.479G>T c.78G>T (p.Leu26=) | |
2 | g.189575234C>G | CA430367540 | SLC40A1 | c.198G>C (p.Leu66=) n.639G>C n.479G>C c.78G>C (p.Leu26=) | |
2 | g.189575234C>T | CA430367539 | SLC40A1 | c.198G>A (p.Leu66=) n.639G>A n.479G>A c.78G>A (p.Leu26=) | |
2 | g.189575235A>C | CA349989742 | SLC40A1 | c.197T>G (p.Leu66Arg) n.638T>G n.478T>G c.77T>G (p.Leu26Arg) | |
2 | g.189575235A>G | CA349989743 | SLC40A1 | c.197T>C (p.Leu66Pro) n.638T>C n.478T>C c.77T>C (p.Leu26Pro) | |
2 | g.189575235A>T | CA349989744 | SLC40A1 | c.197T>A (p.Leu66Gln) n.638T>A n.478T>A c.77T>A (p.Leu26Gln) | |
2 | g.189575236G>A | CA430367542 | SLC40A1 | c.196C>T (p.Leu66=) n.637C>T n.477C>T c.76C>T (p.Leu26=) | |
2 | g.189575236G>C | CA349989745 | SLC40A1 | c.196C>G (p.Leu66Val) n.637C>G n.477C>G c.76C>G (p.Leu26Val) | |
2 | g.189575236G>T | CA349989746 | SLC40A1 | c.196C>A (p.Leu66Met) n.637C>A n.477C>A c.76C>A (p.Leu26Met) | COSMIC |
2 | g.189575237C>A | CA430367545 | SLC40A1 | c.195G>T (p.Gly65=) n.636G>T n.476G>T c.75G>T (p.Gly25=) | gnomAD v4 |
2 | g.189575237C>G | CA430367544 | SLC40A1 | c.195G>C (p.Gly65=) n.636G>C n.476G>C c.75G>C (p.Gly25=) | |
2 | g.189575237C>T | CA430367543 | SLC40A1 | c.195G>A (p.Gly65=) n.636G>A n.476G>A c.75G>A (p.Gly25=) | |
2 | g.189575238C>A | CA349989747 | SLC40A1 | c.194G>T (p.Gly65Val) n.635G>T n.475G>T c.74G>T (p.Gly25Val) | |
2 | g.189575238C>G | CA349989748 | SLC40A1 | c.194G>C (p.Gly65Ala) n.635G>C n.475G>C c.74G>C (p.Gly25Ala) | |
2 | g.189575238C>T | CA349989749 | SLC40A1 | c.194G>A (p.Gly65Glu) n.635G>A n.475G>A c.74G>A (p.Gly25Glu) | |
2 | g.189575239C>A | CA349989751 | SLC40A1 | c.193G>T (p.Gly65Trp) n.634G>T n.474G>T c.73G>T (p.Gly25Trp) | |
2 | g.189575239C= | CA1315653721 | SLC40A1 | c.193G= (p.Gly65=) n.634G= n.474G= c.73G= (p.Gly25=) | |
2 | g.189575239C>G | CA349989750 | SLC40A1 | c.193G>C (p.Gly65Arg) n.634G>C n.474G>C c.73G>C (p.Gly25Arg) | |
2 | g.189575239C>T | CA62904041 | SLC40A1 | c.193G>A (p.Gly65Arg) n.634G>A n.474G>A c.73G>A (p.Gly25Arg) | dbSNP gnomAD v4 |
2 | g.189575240G>A | CA2024282 | SLC40A1 | c.192C>T (p.Tyr64=) n.633C>T n.473C>T c.72C>T (p.Tyr24=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189575240G>C | CA349989752 | SLC40A1 | c.192C>G (p.Tyr64Ter) n.633C>G n.473C>G c.72C>G (p.Tyr24Ter) | |
2 | g.189575240G= | CA1315653726 | SLC40A1 | c.192C= (p.Tyr64=) n.633C= n.473C= c.72C= (p.Tyr24=) | |
2 | g.189575240G>T | CA349989753 | SLC40A1 | c.192C>A (p.Tyr64Ter) n.633C>A n.473C>A c.72C>A (p.Tyr24Ter) | |
2 | g.189575241T>A | CA349989754 | SLC40A1 | c.191A>T (p.Tyr64Phe) n.632A>T n.472A>T c.71A>T (p.Tyr24Phe) | |
2 | g.189575241T>C | CA349989755 | SLC40A1 | c.191A>G (p.Tyr64Cys) n.632A>G n.472A>G c.71A>G (p.Tyr24Cys) | dbSNP |
2 | g.189575241T>G | CA349989756 | SLC40A1 | c.191A>C (p.Tyr64Ser) n.632A>C n.472A>C c.71A>C (p.Tyr24Ser) | |
2 | g.189575241T= | CA1315653731 | SLC40A1 | c.191A= (p.Tyr64=) n.632A= n.472A= c.71A= (p.Tyr24=) | |
2 | g.189575242A= | CA1315653736 | SLC40A1 | c.190T= (p.Tyr64=) n.631T= n.471T= c.70T= (p.Tyr24=) | |
2 | g.189575242A>C | CA349989757 | SLC40A1 | c.190T>G (p.Tyr64Asp) n.631T>G n.471T>G c.70T>G (p.Tyr24Asp) | |
2 | g.189575242A>G | CA349989758 | SLC40A1 | c.190T>C (p.Tyr64His) n.631T>C n.471T>C c.70T>C (p.Tyr24His) | ClinVar dbSNP |
2 | g.189575242A>T | CA349989759 | SLC40A1 | c.190T>A (p.Tyr64Asn) n.631T>A n.471T>A c.70T>A (p.Tyr24Asn) | dbSNP |
2 | g.189575243G>A | CA2024283 | SLC40A1 | c.189C>T (p.Val63=) n.630C>T n.470C>T c.69C>T (p.Val23=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189575243G>C | CA430367546 | SLC40A1 | c.189C>G (p.Val63=) n.630C>G n.470C>G c.69C>G (p.Val23=) | |
2 | g.189575243G= | CA1315653744 | SLC40A1 | c.189C= (p.Val63=) n.630C= n.470C= c.69C= (p.Val23=) | |
2 | g.189575243G>T | CA430367547 | SLC40A1 | c.189C>A (p.Val63=) n.630C>A n.470C>A c.69C>A (p.Val23=) | |
2 | g.189575244A>C | CA349989762 | SLC40A1 | c.188T>G (p.Val63Gly) n.629T>G n.469T>G c.68T>G (p.Val23Gly) | |
2 | g.189575244A>G | CA349989761 | SLC40A1 | c.188T>C (p.Val63Ala) n.629T>C n.469T>C c.68T>C (p.Val23Ala) | ClinVar dbSNP |
2 | g.189575244A>T | CA349989760 | SLC40A1 | c.188T>A (p.Val63Asp) n.629T>A n.469T>A c.68T>A (p.Val23Asp) | |
2 | g.189575245C>A | CA349989763 | SLC40A1 | c.187G>T (p.Val63Phe) n.628G>T n.468G>T c.67G>T (p.Val23Phe) | |
2 | g.189575245C>G | CA349989764 | SLC40A1 | c.187G>C (p.Val63Leu) n.628G>C n.468G>C c.67G>C (p.Val23Leu) | gnomAD v4 |
2 | g.189575245C>T | CA349989765 | SLC40A1 | c.187G>A (p.Val63Ile) n.628G>A n.468G>A c.67G>A (p.Val23Ile) | ClinVar |
2 | g.189575246T>A | CA430367548 | SLC40A1 | c.186A>T (p.Ala62=) n.627A>T n.467A>T c.66A>T (p.Ala22=) | |
2 | g.189575246T>C | CA2024284 | SLC40A1 | c.186A>G (p.Ala62=) n.627A>G n.467A>G c.66A>G (p.Ala22=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189575246T>G | CA430367549 | SLC40A1 | c.186A>C (p.Ala62=) n.627A>C n.467A>C c.66A>C (p.Ala22=) | |
2 | g.189575246T= | CA1315653747 | SLC40A1 | c.186A= (p.Ala62=) n.627A= n.467A= c.66A= (p.Ala22=) | |
2 | g.189575247G>A | CA349989766 | SLC40A1 | c.185C>T (p.Ala62Val) n.626C>T n.466C>T c.65C>T (p.Ala22Val) | gnomAD v4 |
2 | g.189575247G>C | CA349989767 | SLC40A1 | c.185C>G (p.Ala62Gly) n.626C>G n.466C>G c.65C>G (p.Ala22Gly) | |
2 | g.189575247G>T | CA349989768 | SLC40A1 | c.185C>A (p.Ala62Glu) n.626C>A n.466C>A c.65C>A (p.Ala22Glu) | |
2 | g.189575248C>A | CA349989769 | SLC40A1 | c.184G>T (p.Ala62Ser) n.625G>T n.465G>T c.64G>T (p.Ala22Ser) | |
2 | g.189575248C>G | CA349989770 | SLC40A1 | c.184G>C (p.Ala62Pro) n.625G>C n.465G>C c.64G>C (p.Ala22Pro) | |
2 | g.189575248C>T | CA349989771 | SLC40A1 | c.184G>A (p.Ala62Thr) n.625G>A n.465G>A c.64G>A (p.Ala22Thr) | |
2 | g.189575249T>A | CA430367550 | SLC40A1 | c.183A>T (p.Thr61=) n.624A>T n.464A>T c.63A>T (p.Thr21=) | |
2 | g.189575249T>C | CA430367551 | SLC40A1 | c.183A>G (p.Thr61=) n.624A>G n.464A>G c.63A>G (p.Thr21=) | |
2 | g.189575249T>G | CA430367552 | SLC40A1 | c.183A>C (p.Thr61=) n.624A>C n.464A>C c.63A>C (p.Thr21=) | |
2 | g.189575250G>A | CA349989772 | SLC40A1 | c.182C>T (p.Thr61Ile) n.623C>T n.463C>T c.62C>T (p.Thr21Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189575250G>C | CA349989773 | SLC40A1 | c.182C>G (p.Thr61Arg) n.623C>G n.463C>G c.62C>G (p.Thr21Arg) | |
2 | g.189575250G= | CA1315653751 | SLC40A1 | c.182C= (p.Thr61=) n.623C= n.463C= c.62C= (p.Thr21=) | |
2 | g.189575250G>T | CA349989774 | SLC40A1 | c.182C>A (p.Thr61Lys) n.623C>A n.463C>A c.62C>A (p.Thr21Lys) | gnomAD v4 |
2 | g.189575251T>A | CA349989775 | SLC40A1 | c.181A>T (p.Thr61Ser) n.622A>T n.462A>T c.61A>T (p.Thr21Ser) | |
2 | g.189575251T>C | CA349989777 | SLC40A1 | c.181A>G (p.Thr61Ala) n.622A>G n.462A>G c.61A>G (p.Thr21Ala) | |
2 | g.189575251T>G | CA349989776 | SLC40A1 | c.181A>C (p.Thr61Pro) n.622A>C n.462A>C c.61A>C (p.Thr21Pro) | |
2 | g.189575252C>A | CA349989778 | SLC40A1 | c.180G>T (p.Leu60Phe) n.621G>T n.461G>T c.60G>T (p.Leu20Phe) | |
2 | g.189575252C>G | CA349989779 | SLC40A1 | c.180G>C (p.Leu60Phe) n.621G>C n.461G>C c.60G>C (p.Leu20Phe) | |
2 | g.189575252C>T | CA430367553 | SLC40A1 | c.180G>A (p.Leu60=) n.621G>A n.461G>A c.60G>A (p.Leu20=) | |
2 | g.189575253A= | CA1315653754 | SLC40A1 | c.179T= (p.Leu60=) n.620T= n.460T= c.59T= (p.Leu20=) | |
2 | g.189575253A>C | CA349989780 | SLC40A1 | c.179T>G (p.Leu60Trp) n.620T>G n.460T>G c.59T>G (p.Leu20Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189575253A>G | CA349989781 | SLC40A1 | c.179T>C (p.Leu60Ser) n.620T>C n.460T>C c.59T>C (p.Leu20Ser) | |
2 | g.189575253A>T | CA349989782 | SLC40A1 | c.179T>A (p.Leu60Ter) n.620T>A n.460T>A c.59T>A (p.Leu20Ter) | |
2 | g.189575254A= | CA1315653758 | SLC40A1 | c.178T= (p.Leu60=) n.619T= n.459T= c.58T= (p.Leu20=) | |
2 | g.189575254A>C | CA349989783 | SLC40A1 | c.178T>G (p.Leu60Val) n.619T>G n.459T>G c.58T>G (p.Leu20Val) | |
2 | g.189575254A>G | CA430367554 | SLC40A1 | c.178T>C (p.Leu60=) n.619T>C n.459T>C c.58T>C (p.Leu20=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189575254A>T | CA349989784 | SLC40A1 | c.178T>A (p.Leu60Met) n.619T>A n.459T>A c.58T>A (p.Leu20Met) | |
2 | g.189575255A>C | CA430367556 | SLC40A1 | c.177T>G (p.Leu59=) n.618T>G n.458T>G c.57T>G (p.Leu19=) | |
2 | g.189575255A>G | CA430367557 | SLC40A1 | c.177T>C (p.Leu59=) n.618T>C n.458T>C c.57T>C (p.Leu19=) | |
2 | g.189575255A>T | CA430367555 | SLC40A1 | c.177T>A (p.Leu59=) n.618T>A n.458T>A c.57T>A (p.Leu19=) | |
2 | g.189575256A= | CA1315653761 | SLC40A1 | c.176T= (p.Leu59=) n.617T= n.457T= c.56T= (p.Leu19=) | |
2 | g.189575256A>C | CA62904042 | SLC40A1 | c.176T>G (p.Leu59Arg) n.617T>G n.457T>G c.56T>G (p.Leu19Arg) | dbSNP |
2 | g.189575256A>G | CA349989785 | SLC40A1 | c.176T>C (p.Leu59Pro) n.617T>C n.457T>C c.56T>C (p.Leu19Pro) | |
2 | g.189575256A>T | CA349989786 | SLC40A1 | c.176T>A (p.Leu59His) n.617T>A n.457T>A c.56T>A (p.Leu19His) | |
2 | g.189575259_189575261del | CA2662329091 | SLC40A1 | c.174_176del (p.Leu59del) n.615_617del n.455_457del c.54_56del (p.Leu19del) | gnomAD v4 |
2 | g.189575257G>A | CA349989788 | SLC40A1 | c.175C>T (p.Leu59Phe) n.616C>T n.456C>T c.55C>T (p.Leu19Phe) | COSMIC |
2 | g.189575257G>C | CA349989789 | SLC40A1 | c.175C>G (p.Leu59Val) n.616C>G n.456C>G c.55C>G (p.Leu19Val) | |
2 | g.189575257G>T | CA349989787 | SLC40A1 | c.175C>A (p.Leu59Ile) n.616C>A n.456C>A c.55C>A (p.Leu19Ile) | |
2 | g.189575258G>A | CA430367558 | SLC40A1 | c.174C>T (p.Leu58=) n.615C>T n.455C>T c.54C>T (p.Leu18=) | COSMIC |
2 | g.189575258G>C | CA430367559 | SLC40A1 | c.174C>G (p.Leu58=) n.615C>G n.455C>G c.54C>G (p.Leu18=) | |
2 | g.189575258G>T | CA430367560 | SLC40A1 | c.174C>A (p.Leu58=) n.615C>A n.455C>A c.54C>A (p.Leu18=) | |
2 | g.189575259A>C | CA349989790 | SLC40A1 | c.173T>G (p.Leu58Arg) n.614T>G n.454T>G c.53T>G (p.Leu18Arg) | |
2 | g.189575259A>G | CA349989791 | SLC40A1 | c.173T>C (p.Leu58Pro) n.614T>C n.454T>C c.53T>C (p.Leu18Pro) | |
2 | g.189575259A>T | CA349989792 | SLC40A1 | c.173T>A (p.Leu58His) n.614T>A n.454T>A c.53T>A (p.Leu18His) | |
2 | g.189575260G>A | CA349989793 | SLC40A1 | c.172C>T (p.Leu58Phe) n.613C>T n.453C>T c.52C>T (p.Leu18Phe) | gnomAD v4 |
2 | g.189575260G>C | CA349989794 | SLC40A1 | c.172C>G (p.Leu58Val) n.613C>G n.453C>G c.52C>G (p.Leu18Val) | |
2 | g.189575260G>T | CA349989795 | SLC40A1 | c.172C>A (p.Leu58Ile) n.613C>A n.453C>A c.52C>A (p.Leu18Ile) | |
2 | g.189575261G>A | CA430367561 | SLC40A1 | c.171C>T (p.Ser57=) n.612C>T n.452C>T c.51C>T (p.Ser17=) | gnomAD v4 |
2 | g.189575261G>C | CA349989796 | SLC40A1 | c.171C>G (p.Ser57Arg) n.612C>G n.452C>G c.51C>G (p.Ser17Arg) | |
2 | g.189575261G= | CA1315653763 | SLC40A1 | c.171C= (p.Ser57=) n.612C= n.452C= c.51C= (p.Ser17=) | |
2 | g.189575261G>T | CA349989797 | SLC40A1 | c.171C>A (p.Ser57Arg) n.612C>A n.452C>A c.51C>A (p.Ser17Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189575262C>A | CA349989798 | SLC40A1 | c.170G>T (p.Ser57Ile) n.611G>T n.451G>T c.50G>T (p.Ser17Ile) | |
2 | g.189575262C>G | CA349989799 | SLC40A1 | c.170G>C (p.Ser57Thr) n.611G>C n.451G>C c.50G>C (p.Ser17Thr) | COSMIC |
2 | g.189575262C>T | CA349989800 | SLC40A1 | c.170G>A (p.Ser57Asn) n.611G>A n.451G>A c.50G>A (p.Ser17Asn) | |
2 | g.189575263T>A | CA349989801 | SLC40A1 | c.169A>T (p.Ser57Cys) n.610A>T n.450A>T c.49A>T (p.Ser17Cys) | |
2 | g.189575263T>C | CA349989802 | SLC40A1 | c.169A>G (p.Ser57Gly) n.610A>G n.450A>G c.49A>G (p.Ser17Gly) | |
2 | g.189575263T>G | CA349989803 | SLC40A1 | c.169A>C (p.Ser57Arg) n.610A>C n.450A>C c.49A>C (p.Ser17Arg) | |
2 | g.189575264G>A | CA430367562 | SLC40A1 | c.168C>T (p.Asn56=) n.609C>T n.449C>T c.48C>T (p.Asn16=) | gnomAD v4 |
2 | g.189575264G>C | CA349989805 | SLC40A1 | c.168C>G (p.Asn56Lys) n.609C>G n.449C>G c.48C>G (p.Asn16Lys) | |
2 | g.189575264G>T | CA349989804 | SLC40A1 | c.168C>A (p.Asn56Lys) n.609C>A n.449C>A c.48C>A (p.Asn16Lys) | |
2 | g.189575265T>A | CA349989806 | SLC40A1 | c.167A>T (p.Asn56Ile) n.608A>T n.448A>T c.47A>T (p.Asn16Ile) | |
2 | g.189575265T>C | CA2024285 | SLC40A1 | c.167A>G (p.Asn56Ser) n.608A>G n.448A>G c.47A>G (p.Asn16Ser) | dbSNP ExAC gnomAD v2 |
2 | g.189575265T>G | CA349989807 | SLC40A1 | c.167A>C (p.Asn56Thr) n.608A>C n.448A>C c.47A>C (p.Asn16Thr) | |
2 | g.189575265T= | CA1315653765 | SLC40A1 | c.167A= (p.Asn56=) n.608A= n.448A= c.47A= (p.Asn16=) | |
2 | g.189575266T>A | CA349989808 | SLC40A1 | c.166A>T (p.Asn56Tyr) n.607A>T c.166A>T n.447A>T c.46A>T (p.Asn16Tyr) | |
2 | g.189575266T>C | CA349989809 | SLC40A1 | c.166A>G (p.Asn56Asp) n.607A>G c.166A>G n.447A>G c.46A>G (p.Asn16Asp) | |
2 | g.189575266T>G | CA349989810 | SLC40A1 | c.166A>C (p.Asn56His) n.607A>C c.166A>C n.447A>C c.46A>C (p.Asn16His) | |
2 | g.189575267T>A | CA430367563 | SLC40A1 | c.165A>T (p.Gly55=) n.606A>T n.446A>T c.45A>T (p.Gly15=) | |
2 | g.189575267T>C | CA430367565 | SLC40A1 | c.165A>G (p.Gly55=) n.606A>G n.446A>G c.45A>G (p.Gly15=) | |
2 | g.189575267T>G | CA430367564 | SLC40A1 | c.165A>C (p.Gly55=) n.606A>C n.446A>C c.45A>C (p.Gly15=) | |
2 | g.189575268C>A | CA349989813 | SLC40A1 | c.164G>T (p.Gly55Val) n.605G>T n.445G>T c.44G>T (p.Gly15Val) | |
2 | g.189575268C>G | CA349989811 | SLC40A1 | c.164G>C (p.Gly55Ala) n.605G>C n.445G>C c.44G>C (p.Gly15Ala) | |
2 | g.189575268C>T | CA349989812 | SLC40A1 | c.164G>A (p.Gly55Glu) n.605G>A n.445G>A c.44G>A (p.Gly15Glu) | gnomAD v4 COSMIC |
2 | g.189575269C>A | CA349989814 | SLC40A1 | c.163G>T (p.Gly55Ter) n.604G>T n.444G>T c.43G>T (p.Gly15Ter) | |
2 | g.189575269C>G | CA349989815 | SLC40A1 | c.163G>C (p.Gly55Arg) n.604G>C n.444G>C c.43G>C (p.Gly15Arg) | |
2 | g.189575269C>T | CA349989816 | SLC40A1 | c.163G>A (p.Gly55Arg) n.604G>A n.444G>A c.43G>A (p.Gly15Arg) | gnomAD v4 |
2 | g.189575270A>C | CA349989817 | SLC40A1 | c.162T>G (p.Tyr54Ter) n.603T>G n.443T>G c.42T>G (p.Tyr14Ter) | |
2 | g.189575270A>G | CA430367566 | SLC40A1 | c.162T>C (p.Tyr54=) n.603T>C n.443T>C c.42T>C (p.Tyr14=) | gnomAD v4 |
2 | g.189575270A>T | CA349989818 | SLC40A1 | c.162T>A (p.Tyr54Ter) n.603T>A n.443T>A c.42T>A (p.Tyr14Ter) | |
2 | g.189575271T>A | CA2024286 | SLC40A1 | c.161A>T (p.Tyr54Phe) n.602A>T n.442A>T c.41A>T (p.Tyr14Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189575271T>C | CA62904043 | SLC40A1 | c.161A>G (p.Tyr54Cys) n.602A>G n.442A>G c.41A>G (p.Tyr14Cys) | dbSNP gnomAD v4 |
2 | g.189575271T>G | CA349989819 | SLC40A1 | c.161A>C (p.Tyr54Ser) n.602A>C n.442A>C c.41A>C (p.Tyr14Ser) | |
2 | g.189575271T= | CA1315653771 | SLC40A1 | c.161A= (p.Tyr54=) n.602A= n.442A= c.41A= (p.Tyr14=) | |
2 | g.189575272A>C | CA349989820 | SLC40A1 | c.160T>G (p.Tyr54Asp) n.601T>G n.441T>G c.40T>G (p.Tyr14Asp) | gnomAD v4 |
2 | g.189575272A>G | CA349989821 | SLC40A1 | c.160T>C (p.Tyr54His) n.601T>C n.441T>C c.40T>C (p.Tyr14His) | |
2 | g.189575272A>T | CA349989822 | SLC40A1 | c.160T>A (p.Tyr54Asn) n.601T>A n.441T>A c.40T>A (p.Tyr14Asn) | |
2 | g.189575273G>A | CA430367567 | SLC40A1 | c.159C>T (p.Leu53=) n.600C>T n.440C>T c.39C>T (p.Leu13=) | |
2 | g.189575273G>C | CA430367568 | SLC40A1 | c.159C>G (p.Leu53=) n.600C>G n.440C>G c.39C>G (p.Leu13=) | |
2 | g.189575273G>T | CA430367569 | SLC40A1 | c.159C>A (p.Leu53=) n.600C>A n.440C>A c.39C>A (p.Leu13=) | |
2 | g.189575274A>C | CA349989823 | SLC40A1 | c.158T>G (p.Leu53Arg) n.599T>G n.439T>G c.38T>G (p.Leu13Arg) | |
2 | g.189575274A>G | CA349989824 | SLC40A1 | c.158T>C (p.Leu53Pro) n.599T>C n.439T>C c.38T>C (p.Leu13Pro) | |
2 | g.189575274A>T | CA349989825 | SLC40A1 | c.158T>A (p.Leu53His) n.599T>A n.439T>A c.38T>A (p.Leu13His) | |
2 | g.189575275G>A | CA349989827 | SLC40A1 | c.157C>T (p.Leu53Phe) n.598C>T n.438C>T c.37C>T (p.Leu13Phe) | gnomAD v4 |
2 | g.189575275G>C | CA349989826 | SLC40A1 | c.157C>G (p.Leu53Val) n.598C>G n.438C>G c.37C>G (p.Leu13Val) | |
2 | g.189575275G= | CA1315653775 | SLC40A1 | c.157C= (p.Leu53=) n.598C= n.438C= c.37C= (p.Leu13=) | |
2 | g.189575275G>T | CA62904044 | SLC40A1 | c.157C>A (p.Leu53Ile) n.598C>A n.438C>A c.37C>A (p.Leu13Ile) | dbSNP |
2 | g.189575276C>A | CA349989828 | SLC40A1 | c.156G>T (p.Glu52Asp) n.597G>T n.437G>T c.36G>T (p.Glu12Asp) | |
2 | g.189575276C>G | CA349989829 | SLC40A1 | c.156G>C (p.Glu52Asp) n.597G>C n.437G>C c.36G>C (p.Glu12Asp) | gnomAD v4 |
2 | g.189575276C>T | CA430367570 | SLC40A1 | c.156G>A (p.Glu52=) n.597G>A n.437G>A c.36G>A (p.Glu12=) | gnomAD v4 |
2 | g.189575277T>A | CA349989830 | SLC40A1 | c.155A>T (p.Glu52Val) n.596A>T n.436A>T c.35A>T (p.Glu12Val) | |
2 | g.189575277T>C | CA349989831 | SLC40A1 | c.155A>G (p.Glu52Gly) n.596A>G n.436A>G c.35A>G (p.Glu12Gly) | |
2 | g.189575277T>G | CA349989832 | SLC40A1 | c.155A>C (p.Glu52Ala) n.596A>C n.436A>C c.35A>C (p.Glu12Ala) | |
2 | g.189575278C>A | CA349989833 | SLC40A1 | c.154G>T (p.Glu52Ter) n.595G>T n.435G>T c.34G>T (p.Glu12Ter) | |
2 | g.189575278C>G | CA349989835 | SLC40A1 | c.154G>C (p.Glu52Gln) n.595G>C n.435G>C c.34G>C (p.Glu12Gln) | |
2 | g.189575278C>T | CA349989834 | SLC40A1 | c.154G>A (p.Glu52Lys) n.595G>A n.435G>A c.34G>A (p.Glu12Lys) | |
2 | g.189575279T>A | CA430367571 | SLC40A1 | c.153A>T (p.Val51=) n.594A>T n.434A>T c.33A>T (p.Val11=) | |
2 | g.189575279T>C | CA430367572 | SLC40A1 | c.153A>G (p.Val51=) n.594A>G n.434A>G c.33A>G (p.Val11=) | |
2 | g.189575279T>G | CA430367573 | SLC40A1 | c.153A>C (p.Val51=) n.594A>C n.434A>C c.33A>C (p.Val11=) | dbSNP |
2 | g.189575279T= | CA1315653777 | SLC40A1 | c.153A= (p.Val51=) n.594A= n.434A= c.33A= (p.Val11=) | |
2 | g.189575280A>C | CA349989836 | SLC40A1 | c.152T>G (p.Val51Gly) n.593T>G n.433T>G c.32T>G (p.Val11Gly) | |
2 | g.189575280A>G | CA349989837 | SLC40A1 | c.152T>C (p.Val51Ala) n.593T>C n.433T>C c.32T>C (p.Val11Ala) | |
2 | g.189575280A>T | CA349989838 | SLC40A1 | c.152T>A (p.Val51Glu) n.593T>A n.433T>A c.32T>A (p.Val11Glu) | |
2 | g.189575281C>A | CA349989839 | SLC40A1 | c.151G>T (p.Val51Leu) n.592G>T n.432G>T c.31G>T (p.Val11Leu) | gnomAD v4 |
2 | g.189575281C>G | CA349989840 | SLC40A1 | c.151G>C (p.Val51Leu) n.592G>C n.432G>C c.31G>C (p.Val11Leu) | |
2 | g.189575281C>T | CA349989841 | SLC40A1 | c.151G>A (p.Val51Ile) n.592G>A n.432G>A c.31G>A (p.Val11Ile) | |
2 | g.189575282C>A | CA430367574 | SLC40A1 | c.150G>T (p.Leu50=) n.591G>T n.431G>T c.30G>T (p.Leu10=) | |
2 | g.189575282C= | CA1315653780 | SLC40A1 | c.150G= (p.Leu50=) n.591G= n.431G= c.30G= (p.Leu10=) | |
2 | g.189575282C>G | CA430367575 | SLC40A1 | c.150G>C (p.Leu50=) n.591G>C n.431G>C c.30G>C (p.Leu10=) | |
2 | g.189575282C>T | CA62904045 | SLC40A1 | c.150G>A (p.Leu50=) n.591G>A n.431G>A c.30G>A (p.Leu10=) | dbSNP gnomAD v4 |
2 | g.189575283A>C | CA349989842 | SLC40A1 | c.149T>G (p.Leu50Arg) n.590T>G n.430T>G c.29T>G (p.Leu10Arg) | |
2 | g.189575283A>G | CA349989843 | SLC40A1 | c.149T>C (p.Leu50Pro) n.590T>C n.430T>C c.29T>C (p.Leu10Pro) | |
2 | g.189575283A>T | CA349989844 | SLC40A1 | c.149T>A (p.Leu50Gln) n.590T>A n.430T>A c.29T>A (p.Leu10Gln) | |
2 | g.189575284G>A | CA430367576 | SLC40A1 | c.148C>T (p.Leu50=) n.589C>T n.429C>T c.28C>T (p.Leu10=) | |
2 | g.189575284G>C | CA349989845 | SLC40A1 | c.148C>G (p.Leu50Val) n.589C>G n.429C>G c.28C>G (p.Leu10Val) | |
2 | g.189575284G>T | CA349989846 | SLC40A1 | c.148C>A (p.Leu50Met) n.589C>A n.429C>A c.28C>A (p.Leu10Met) | |
2 | g.189575285A>C | CA349989847 | SLC40A1 | c.147T>G (p.Phe49Leu) n.588T>G n.428T>G c.27T>G (p.Phe9Leu) | |
2 | g.189575285A>G | CA430367577 | SLC40A1 | c.147T>C (p.Phe49=) n.588T>C n.428T>C c.27T>C (p.Phe9=) | |
2 | g.189575285A>T | CA349989848 | SLC40A1 | c.147T>A (p.Phe49Leu) n.588T>A n.428T>A c.27T>A (p.Phe9Leu) | |
2 | g.189575286A>C | CA349989849 | SLC40A1 | c.146T>G (p.Phe49Cys) n.587T>G n.427T>G c.26T>G (p.Phe9Cys) | |
2 | g.189575286A>G | CA349989851 | SLC40A1 | c.146T>C (p.Phe49Ser) n.587T>C n.427T>C c.26T>C (p.Phe9Ser) | |
2 | g.189575286A>T | CA349989850 | SLC40A1 | c.146T>A (p.Phe49Tyr) n.587T>A n.427T>A c.26T>A (p.Phe9Tyr) | |
2 | g.189575286_189575288delinsAAC | CA1315653785 | SLC40A1 | c.144_146delinsGTT (p.Val48=) n.585_587delinsGTT n.425_427delinsGTT c.24_26delinsGTT (p.Val8=) | |
2 | g.189575287A>C | CA349989852 | SLC40A1 | c.145T>G (p.Phe49Val) n.586T>G n.426T>G c.25T>G (p.Phe9Val) | |
2 | g.189575287A>G | CA349989854 | SLC40A1 | c.145T>C (p.Phe49Leu) n.586T>C n.426T>C c.25T>C (p.Phe9Leu) | ClinVar gnomAD v4 |
2 | g.189575287A>T | CA349989853 | SLC40A1 | c.145T>A (p.Phe49Ile) n.586T>A n.426T>A c.25T>A (p.Phe9Ile) | |
2 | g.189575290_189575291del | CA645519889 | SLC40A1 | c.144_145del (p.Phe49SerfsTer?) n.585_586del n.425_426del c.24_25del (p.Phe9SerfsTer?) | dbSNP COSMIC |
2 | g.189575288C>A | CA430367578 | SLC40A1 | c.144G>T (p.Val48=) n.585G>T n.425G>T c.24G>T (p.Val8=) | |
2 | g.189575288C>G | CA430367580 | SLC40A1 | c.144G>C (p.Val48=) n.585G>C n.425G>C c.24G>C (p.Val8=) | |
2 | g.189575288C>T | CA430367579 | SLC40A1 | c.144G>A (p.Val48=) n.585G>A n.425G>A c.24G>A (p.Val8=) | |
2 | g.189575289A>C | CA349989855 | SLC40A1 | c.143T>G (p.Val48Gly) n.584T>G n.424T>G c.23T>G (p.Val8Gly) | |
2 | g.189575289A>G | CA349989857 | SLC40A1 | c.143T>C (p.Val48Ala) n.584T>C n.424T>C c.23T>C (p.Val8Ala) | |
2 | g.189575289A>T | CA349989856 | SLC40A1 | c.143T>A (p.Val48Glu) n.584T>A n.424T>A c.23T>A (p.Val8Glu) | |
2 | g.189575290C>A | CA349989858 | SLC40A1 | c.142G>T (p.Val48Leu) n.583G>T n.423G>T c.22G>T (p.Val8Leu) | dbSNP gnomAD v2 |
2 | g.189575290C= | CA1315653787 | SLC40A1 | c.142G= (p.Val48=) n.583G= n.423G= c.22G= (p.Val8=) | |
2 | g.189575290C>G | CA349989859 | SLC40A1 | c.142G>C (p.Val48Leu) n.583G>C n.423G>C c.22G>C (p.Val8Leu) | |
2 | g.189575290C>T | CA349989860 | SLC40A1 | c.142G>A (p.Val48Met) n.583G>A n.423G>A c.22G>A (p.Val8Met) | gnomAD v4 |
2 | g.189575291A>C | CA430367581 | SLC40A1 | c.141T>G (p.Ser47=) n.582T>G n.422T>G c.21T>G (p.Ser7=) | |
2 | g.189575291A>G | CA430367582 | SLC40A1 | c.141T>C (p.Ser47=) n.582T>C n.422T>C c.21T>C (p.Ser7=) | |
2 | g.189575291A>T | CA430367583 | SLC40A1 | c.141T>A (p.Ser47=) n.582T>A n.422T>A c.21T>A (p.Ser7=) | |
2 | g.189575292G>A | CA349989861 | SLC40A1 | c.140C>T (p.Ser47Phe) n.581C>T n.421C>T c.20C>T (p.Ser7Phe) | ClinVar dbSNP |
2 | g.189575292G>C | CA349989862 | SLC40A1 | c.140C>G (p.Ser47Cys) n.581C>G n.421C>G c.20C>G (p.Ser7Cys) | |
2 | g.189575292G>T | CA349989863 | SLC40A1 | c.140C>A (p.Ser47Tyr) n.581C>A n.421C>A c.20C>A (p.Ser7Tyr) | |
2 | g.189575293A= | CA1315653789 | SLC40A1 | c.139T= (p.Ser47=) n.580T= n.420T= c.19T= (p.Ser7=) | |
2 | g.189575293A>C | CA349989864 | SLC40A1 | c.139T>G (p.Ser47Ala) n.580T>G n.420T>G c.19T>G (p.Ser7Ala) | |
2 | g.189575293A>G | CA349989865 | SLC40A1 | c.139T>C (p.Ser47Pro) n.580T>C n.420T>C c.19T>C (p.Ser7Pro) | ClinVar dbSNP |
2 | g.189575293A>T | CA349989866 | SLC40A1 | c.139T>A (p.Ser47Thr) n.580T>A n.420T>A c.19T>A (p.Ser7Thr) | |
2 | g.189575294C>A | CA430367584 | SLC40A1 | c.138G>T (p.Val46=) n.579G>T n.419G>T c.18G>T (p.Val6=) | |
2 | g.189575294C= | CA1315653791 | SLC40A1 | c.138G= (p.Val46=) n.579G= n.419G= c.18G= (p.Val6=) | |
2 | g.189575294C>G | CA430367585 | SLC40A1 | c.138G>C (p.Val46=) n.579G>C n.419G>C c.18G>C (p.Val6=) | |
2 | g.189575294C>T | CA2024287 | SLC40A1 | c.138G>A (p.Val46=) n.579G>A n.419G>A c.18G>A (p.Val6=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189575295A= | CA1315653794 | SLC40A1 | c.137T= (p.Val46=) n.578T= n.418T= c.17T= (p.Val6=) | |
2 | g.189575295A>C | CA349989867 | SLC40A1 | c.137T>G (p.Val46Gly) n.578T>G n.418T>G c.17T>G (p.Val6Gly) | |
2 | g.189575295A>G | CA2024288 | SLC40A1 | c.137T>C (p.Val46Ala) n.578T>C n.418T>C c.17T>C (p.Val6Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189575295A>T | CA349989868 | SLC40A1 | c.137T>A (p.Val46Glu) n.578T>A n.418T>A c.17T>A (p.Val6Glu) | |
2 | g.189575296C>A | CA349989869 | SLC40A1 | c.136G>T (p.Val46Leu) n.577G>T n.417G>T c.16G>T (p.Val6Leu) | |
2 | g.189575296C>G | CA349989871 | SLC40A1 | c.136G>C (p.Val46Leu) n.577G>C n.417G>C c.16G>C (p.Val6Leu) | |
2 | g.189575296C>T | CA349989870 | SLC40A1 | c.136G>A (p.Val46Met) n.577G>A n.417G>A c.16G>A (p.Val6Met) | |
2 | g.189575297C>A | CA430367586 | SLC40A1 | c.135G>T (p.Ala45=) n.576G>T n.416G>T c.15G>T (p.Ala5=) | gnomAD v4 |
2 | g.189575297C= | CA1315653796 | SLC40A1 | c.135G= (p.Ala45=) n.576G= n.416G= c.15G= (p.Ala5=) | |
2 | g.189575297C>G | CA430367587 | SLC40A1 | c.135G>C (p.Ala45=) n.576G>C n.416G>C c.15G>C (p.Ala5=) | gnomAD v4 |
2 | g.189575297C>T | CA2024289 | SLC40A1 | c.135G>A (p.Ala45=) n.576G>A n.416G>A c.15G>A (p.Ala5=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189575298G>A | CA2024290 | SLC40A1 | c.134C>T (p.Ala45Val) n.575C>T n.415C>T c.14C>T (p.Ala5Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189575298G>C | CA349989872 | SLC40A1 | c.134C>G (p.Ala45Gly) n.575C>G n.415C>G c.14C>G (p.Ala5Gly) | |
2 | g.189575298G= | CA1315653798 | SLC40A1 | c.134C= (p.Ala45=) n.575C= n.415C= c.14C= (p.Ala5=) | |
2 | g.189575298G>T | CA349989873 | SLC40A1 | c.134C>A (p.Ala45Glu) n.575C>A n.415C>A c.14C>A (p.Ala5Glu) | ClinVar dbSNP |
2 | g.189575299C>A | CA349989874 | SLC40A1 | c.133G>T (p.Ala45Ser) n.574G>T n.414G>T c.13G>T (p.Ala5Ser) | |
2 | g.189575299C>G | CA349989875 | SLC40A1 | c.133G>C (p.Ala45Pro) n.574G>C n.414G>C c.13G>C (p.Ala5Pro) | |
2 | g.189575299C>T | CA349989876 | SLC40A1 | c.133G>A (p.Ala45Thr) n.574G>A n.414G>A c.13G>A (p.Ala5Thr) | |
2 | g.189575300A>C | CA349989877 | SLC40A1 | c.132T>G (p.Phe44Leu) n.573T>G n.413T>G c.12T>G (p.Phe4Leu) | |
2 | g.189575300A>G | CA430367588 | SLC40A1 | c.132T>C (p.Phe44=) n.573T>C n.413T>C c.12T>C (p.Phe4=) | |
2 | g.189575300A>T | CA349989878 | SLC40A1 | c.132T>A (p.Phe44Leu) n.573T>A n.413T>A c.12T>A (p.Phe4Leu) | |
2 | g.189575302dup | CA2662329092 | SLC40A1 | c.132dup (p.Ala45CysfsTer?) n.573dup n.413dup c.12dup (p.Ala5CysfsTer?) | gnomAD v4 |
2 | g.189575301A>C | CA349989881 | SLC40A1 | c.131T>G (p.Phe44Cys) n.572T>G n.412T>G c.11T>G (p.Phe4Cys) | |
2 | g.189575301A>G | CA349989880 | SLC40A1 | c.131T>C (p.Phe44Ser) n.572T>C n.412T>C c.11T>C (p.Phe4Ser) | |
2 | g.189575301A>T | CA349989879 | SLC40A1 | c.131T>A (p.Phe44Tyr) n.572T>A n.412T>A c.11T>A (p.Phe4Tyr) | |
2 | g.189575302A>C | CA349989882 | SLC40A1 | c.130T>G (p.Phe44Val) n.571T>G n.411T>G c.10T>G (p.Phe4Val) | |
2 | g.189575302A>G | CA349989883 | SLC40A1 | c.130T>C (p.Phe44Leu) n.571T>C n.411T>C c.10T>C (p.Phe4Leu) | |
2 | g.189575302A>T | CA349989884 | SLC40A1 | c.130T>A (p.Phe44Ile) n.571T>A n.411T>A c.10T>A (p.Phe4Ile) | |
2 | g.189575303G>A | CA430367589 | SLC40A1 | c.129C>T (p.His43=) n.570C>T n.410C>T c.9C>T (p.His3=) | |
2 | g.189575303G>C | CA349989885 | SLC40A1 | c.129C>G (p.His43Gln) n.570C>G n.410C>G c.9C>G (p.His3Gln) | |
2 | g.189575303G>T | CA349989886 | SLC40A1 | c.129C>A (p.His43Gln) n.570C>A n.410C>A c.9C>A (p.His3Gln) | |
2 | g.189575304T>A | CA349989887 | SLC40A1 | c.128A>T (p.His43Leu) n.569A>T n.409A>T c.8A>T (p.His3Leu) | |
2 | g.189575304T>C | CA349989888 | SLC40A1 | c.128A>G (p.His43Arg) n.569A>G n.409A>G c.8A>G (p.His3Arg) | |
2 | g.189575304T>G | CA349989889 | SLC40A1 | c.128A>C (p.His43Pro) n.569A>C n.409A>C c.8A>C (p.His3Pro) | |
2 | g.189575305G>A | CA349989890 | SLC40A1 | c.127C>T (p.His43Tyr) n.568C>T n.408C>T c.7C>T (p.His3Tyr) | |
2 | g.189575305G>C | CA349989891 | SLC40A1 | c.127C>G (p.His43Asp) n.568C>G n.408C>G c.7C>G (p.His3Asp) | |
2 | g.189575305G>T | CA349989892 | SLC40A1 | c.127C>A (p.His43Asn) n.568C>A n.408C>A c.7C>A (p.His3Asn) | |
2 | g.189575306C>A | CA349989895 | SLC40A1 | c.126G>T (p.Trp42Cys) n.567G>T n.407G>T c.6G>T (p.Trp2Cys) | |
2 | g.189575306C>G | CA349989894 | SLC40A1 | c.126G>C (p.Trp42Cys) n.567G>C n.407G>C c.6G>C (p.Trp2Cys) | |
2 | g.189575306C>T | CA349989893 | SLC40A1 | c.126G>A (p.Trp42Ter) n.567G>A n.407G>A c.6G>A (p.Trp2Ter) | gnomAD v4 |
2 | g.189575307C>A | CA349989896 | SLC40A1 | c.125G>T (p.Trp42Leu) n.566G>T n.406G>T c.5G>T (p.Trp2Leu) | |
2 | g.189575307C>G | CA349989897 | SLC40A1 | c.125G>C (p.Trp42Ser) n.566G>C n.406G>C c.5G>C (p.Trp2Ser) | |
2 | g.189575307C>T | CA349989898 | SLC40A1 | c.125G>A (p.Trp42Ter) n.566G>A n.406G>A c.5G>A (p.Trp2Ter) | |
2 | g.189575308A>C | CA349989899 | SLC40A1 | c.124T>G (p.Trp42Gly) n.565T>G n.405T>G c.4T>G (p.Trp2Gly) | |
2 | g.189575308A>G | CA349989900 | SLC40A1 | c.124T>C (p.Trp42Arg) n.565T>C n.405T>C c.4T>C (p.Trp2Arg) | gnomAD v4 |
2 | g.189575308A>T | CA349989901 | SLC40A1 | c.124T>A (p.Trp42Arg) n.565T>A n.405T>A c.4T>A (p.Trp2Arg) | |
2 | g.189575309C>A | CA349989902 | SLC40A1 | c.123G>T (p.Met41Ile) n.564G>T n.404G>T c.3G>T (p.Met1Ile) | |
2 | g.189575309C= | CA1315653799 | SLC40A1 | c.123G= (p.Met41=) n.564G= n.404G= c.3G= (p.Met1=) | |
2 | g.189575309C>G | CA349989903 | SLC40A1 | c.123G>C (p.Met41Ile) n.564G>C n.404G>C c.3G>C (p.Met1Ile) | |
2 | g.189575309C>T | CA2024291 | SLC40A1 | c.123G>A (p.Met41Ile) n.564G>A n.404G>A c.3G>A (p.Met1Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189575310A>C | CA349989904 | SLC40A1 | c.122T>G (p.Met41Arg) n.563T>G n.403T>G c.2T>G (p.Met1Arg) | |
2 | g.189575310A>G | CA349989905 | SLC40A1 | c.122T>C (p.Met41Thr) n.563T>C n.403T>C c.2T>C (p.Met1Thr) | |
2 | g.189575310A>T | CA349989906 | SLC40A1 | c.122T>A (p.Met41Lys) n.563T>A n.403T>A c.2T>A (p.Met1Lys) | |
2 | g.189575311T>A | CA349989909 | SLC40A1 | c.121A>T (p.Met41Leu) n.562A>T n.402A>T c.1A>T (p.Met1Leu) | gnomAD v4 |
2 | g.189575311T>C | CA349989908 | SLC40A1 | c.121A>G (p.Met41Val) n.562A>G n.402A>G c.1A>G (p.Met1Val) | |
2 | g.189575311T>G | CA349989907 | SLC40A1 | c.121A>C (p.Met41Leu) n.562A>C n.402A>C c.1A>C (p.Met1Leu) | |
2 | g.189575312C>A | CA430367590 | SLC40A1 | c.120G>T (p.Arg40=) n.561G>T n.401G>T c.-1G>T (n.-1G>T) | |
2 | g.189575312C= | CA1315653801 | SLC40A1 | c.120G= (p.Arg40=) n.561G= n.401G= c.-1G= (n.-1G=) | |
2 | g.189575312C>G | CA430367592 | SLC40A1 | c.120G>C (p.Arg40=) n.561G>C n.401G>C c.-1G>C (n.-1G>C) | |
2 | g.189575312C>T | CA2024292 | SLC40A1 | c.120G>A (p.Arg40=) n.561G>A n.401G>A c.-1G>A (n.-1G>A) | dbSNP ExAC gnomAD v2 |
2 | g.189575313del | CA430367591 | SLC40A1 | c.120del (p.Met41CysfsTer11) n.561del n.401del c.-1del (n.-1del) | COSMIC |
2 | g.189575313C>A | CA349989911 | SLC40A1 | c.119G>T (p.Arg40Leu) n.560G>T n.400G>T c.-2G>T (n.-2G>T) | |
2 | g.189575313C= | CA1315653803 | SLC40A1 | c.119G= (p.Arg40=) n.560G= n.400G= c.-2G= (n.-2G=) | |
2 | g.189575313C>G | CA349989910 | SLC40A1 | c.119G>C (p.Arg40Pro) n.560G>C n.400G>C c.-2G>C (n.-2G>C) | |
2 | g.189575313C>T | CA2024293 | SLC40A1 | c.119G>A (p.Arg40Gln) n.560G>A n.400G>A c.-2G>A (n.-2G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.189575314del | CA2553788924 | SLC40A1 | c.118del (p.Arg40GlyfsTer12) n.559del n.399del c.-3del (n.-3del) | |
2 | g.189575314G>A | CA62904046 | SLC40A1 | c.118C>T (p.Arg40Trp) n.559C>T n.399C>T c.-3C>T (n.-3C>T) | dbSNP gnomAD v4 |
2 | g.189575314G>C | CA349989912 | SLC40A1 | c.118C>G (p.Arg40Gly) n.559C>G n.399C>G c.-3C>G (n.-3C>G) | gnomAD v4 |
2 | g.189575314G= | CA1315653805 | SLC40A1 | c.118C= (p.Arg40=) n.559C= n.399C= c.-3C= (n.-3C=) | |
2 | g.189575314G>T | CA430367593 | SLC40A1 | c.118C>A (p.Arg40=) n.559C>A n.399C>A c.-3C>A (n.-3C>A) | |
2 | g.189575315A>C | CA349989913 | SLC40A1 | c.117T>G (p.Asp39Glu) n.558T>G n.398T>G c.-4T>G (n.-4T>G) | |
2 | g.189575315A>G | CA430367594 | SLC40A1 | c.117T>C (p.Asp39=) n.558T>C n.398T>C c.-4T>C (n.-4T>C) | |
2 | g.189575315A>T | CA349989914 | SLC40A1 | c.117T>A (p.Asp39Glu) n.558T>A n.398T>A c.-4T>A (n.-4T>A) | |
2 | g.189575316T>A | CA349989915 | SLC40A1 | c.116A>T (p.Asp39Val) n.557A>T n.397A>T c.-5A>T (n.-5A>T) | gnomAD v4 |
2 | g.189575316T>C | CA349989916 | SLC40A1 | c.116A>G (p.Asp39Gly) n.557A>G n.397A>G c.-5A>G (n.-5A>G) | |
2 | g.189575316T>G | CA349989917 | SLC40A1 | c.116A>C (p.Asp39Ala) n.557A>C n.397A>C c.-5A>C (n.-5A>C) | |
2 | g.189575317C>A | CA349989918 | SLC40A1 | c.115G>T (p.Asp39Tyr) n.556G>T n.396G>T c.-6G>T (n.-6G>T) | |
2 | g.189575317C= | CA1315653807 | SLC40A1 | c.115G= (p.Asp39=) n.556G= n.396G= c.-6G= (n.-6G=) | |
2 | g.189575317C>G | CA349989919 | SLC40A1 | c.115G>C (p.Asp39His) n.556G>C n.396G>C c.-6G>C (n.-6G>C) | |
2 | g.189575317C>T | CA349989920 | SLC40A1 | c.115G>A (p.Asp39Asn) n.556G>A n.396G>A c.-6G>A (n.-6G>A) | dbSNP gnomAD v4 |
2 | g.189575318T>A | CA430367595 | SLC40A1 | c.114A>T (p.Gly38=) n.555A>T n.395A>T c.-7A>T (n.-7A>T) | |
2 | g.189575318T>C | CA430367596 | SLC40A1 | c.114A>G (p.Gly38=) n.555A>G n.395A>G c.-7A>G (n.-7A>G) | |
2 | g.189575318T>G | CA430367597 | SLC40A1 | c.114A>C (p.Gly38=) n.555A>C n.395A>C c.-7A>C (n.-7A>C) | |
2 | g.189575319C>A | CA349989923 | SLC40A1 | c.113G>T (p.Gly38Val) n.554G>T n.394G>T c.-8G>T (n.-8G>T) | gnomAD v4 |
2 | g.189575319C= | CA1315653809 | SLC40A1 | c.113G= (p.Gly38=) n.554G= n.394G= c.-8G= (n.-8G=) | |
2 | g.189575319C>G | CA349989922 | SLC40A1 | c.113G>C (p.Gly38Ala) n.554G>C n.394G>C c.-8G>C (n.-8G>C) | |
2 | g.189575319C>T | CA349989921 | SLC40A1 | c.113G>A (p.Gly38Glu) n.554G>A n.394G>A c.-8G>A (n.-8G>A) | |
2 | g.189575319_189575320insAGTTATTTCTT | CA1315653811 | SLC40A1 | c.112_113insAAGAAATAACT (p.Gly38GlufsTer18) n.553_554insAAGAAATAACT n.393_394insAAGAAATAACT c.-9_-8insAAGAAATAACT (n.-9_-8insAAGAAATAACT) | dbSNP |
2 | g.189575320C>A | CA349989924 | SLC40A1 | c.112G>T (p.Gly38Ter) n.553G>T n.393G>T c.-9G>T (n.-9G>T) | |
2 | g.189575320C>G | CA349989925 | SLC40A1 | c.112G>C (p.Gly38Arg) n.553G>C n.393G>C c.-9G>C (n.-9G>C) | |
2 | g.189575320C>T | CA349989926 | SLC40A1 | c.112G>A (p.Gly38Arg) n.553G>A n.393G>A c.-9G>A (n.-9G>A) | |
2 | g.189575321C>A | CA349989927 | SLC40A1 | c.112-1G>T (n.112-1G>T) n.553-1G>T n.393-1G>T c.-9-1G>T (n.-9-1G>T) | |
2 | g.189575321C>G | CA349989928 | SLC40A1 | c.112-1G>C (n.112-1G>C) n.553-1G>C n.393-1G>C c.-9-1G>C (n.-9-1G>C) | |
2 | g.189575321C>T | CA349989929 | SLC40A1 | c.112-1G>A (n.112-1G>A) n.553-1G>A n.393-1G>A c.-9-1G>A (n.-9-1G>A) | |
2 | g.189575322T>A | CA349989930 | SLC40A1 | c.112-2A>T (n.112-2A>T) n.553-2A>T n.393-2A>T c.-9-2A>T (n.-9-2A>T) | |
2 | g.189575322T>C | CA349989931 | SLC40A1 | c.112-2A>G (n.112-2A>G) n.553-2A>G n.393-2A>G c.-9-2A>G (n.-9-2A>G) | |
2 | g.189575322T>G | CA62904047 | SLC40A1 | c.112-2A>C (n.112-2A>C) n.553-2A>C n.393-2A>C c.-9-2A>C (n.-9-2A>C) | dbSNP |
2 | g.189575322T= | CA1315653813 | SLC40A1 | c.112-2A= (n.112-2A=) n.553-2A= n.393-2A= c.-9-2A= (n.-9-2A=) | |
2 | g.189575323T>G | CA1315653815 | SLC40A1 | c.112-3A>C (n.112-3A>C) n.553-3A>C n.393-3A>C c.-9-3A>C (n.-9-3A>C) | dbSNP gnomAD v4 |
2 | g.189575323T= | CA1315653816 | SLC40A1 | c.112-3A= (n.112-3A=) n.553-3A= n.393-3A= c.-9-3A= (n.-9-3A=) | |
2 | g.189575324A>C | CA2662329093 | SLC40A1 | c.112-4T>G (n.112-4T>G) n.553-4T>G n.393-4T>G c.-9-4T>G (n.-9-4T>G) | gnomAD v4 |
2 | g.189575327T>A | CA2662329094 | SLC40A1 | c.112-7A>T (n.112-7A>T) n.553-7A>T n.393-7A>T c.-9-7A>T (n.-9-7A>T) | gnomAD v4 |
2 | g.189575327T>C | CA762277323 | SLC40A1 | c.112-7A>G (n.112-7A>G) n.553-7A>G n.393-7A>G c.-9-7A>G (n.-9-7A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189575327T>G | CA2024294 | SLC40A1 | c.112-7A>C (n.112-7A>C) n.553-7A>C n.393-7A>C c.-9-7A>C (n.-9-7A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189575327T= | CA1315653817 | SLC40A1 | c.112-7A= (n.112-7A=) n.553-7A= n.393-7A= c.-9-7A= (n.-9-7A=) |