Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.135943422T>A | CA348653750 | DARS1 | c.379A>T (p.Ile127Phe) c.474A>T c.280A>T (p.Ile94Phe) n.376A>T c.79A>T (p.Ile27Phe) | |
2 | g.135943422T>C | CA348653752 | DARS1 | c.379A>G (p.Ile127Val) c.474A>G c.280A>G (p.Ile94Val) n.376A>G c.79A>G (p.Ile27Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.135943422T>G | CA348653748 | DARS1 | c.379A>C (p.Ile127Leu) c.474A>C c.280A>C (p.Ile94Leu) n.376A>C c.79A>C (p.Ile27Leu) | |
2 | g.135943422T= | CA1290890815 | DARS1 | c.379A= (p.Ile127=) c.474A= c.280A= (p.Ile94=) n.376A= c.79A= (p.Ile27=) | |
2 | g.135943423T>A | CA348653756 | DARS1 | c.378A>T (p.Lys126Asn) c.473A>T c.279A>T (p.Lys93Asn) n.375A>T c.78A>T (p.Lys26Asn) | |
2 | g.135943423T>C | CA429179192 | DARS1 | c.378A>G (p.Lys126=) c.473A>G c.279A>G (p.Lys93=) n.375A>G c.78A>G (p.Lys26=) | |
2 | g.135943423T>G | CA348653754 | DARS1 | c.378A>C (p.Lys126Asn) c.473A>C c.279A>C (p.Lys93Asn) n.375A>C c.78A>C (p.Lys26Asn) | |
2 | g.135943424T>A | CA348653758 | DARS1 | c.377A>T (p.Lys126Ile) c.472A>T c.278A>T (p.Lys93Ile) n.374A>T c.77A>T (p.Lys26Ile) | |
2 | g.135943424T>C | CA348653760 | DARS1 | c.377A>G (p.Lys126Arg) c.472A>G c.278A>G (p.Lys93Arg) n.374A>G c.77A>G (p.Lys26Arg) | |
2 | g.135943424T>G | CA348653762 | DARS1 | c.377A>C (p.Lys126Thr) c.472A>C c.278A>C (p.Lys93Thr) n.374A>C c.77A>C (p.Lys26Thr) | |
2 | g.135943425T>A | CA348653764 | DARS1 | c.376A>T (p.Lys126Ter) c.471A>T c.277A>T (p.Lys93Ter) n.373A>T c.76A>T (p.Lys26Ter) | |
2 | g.135943425T>C | CA348653766 | DARS1 | c.376A>G (p.Lys126Glu) c.471A>G c.277A>G (p.Lys93Glu) n.373A>G c.76A>G (p.Lys26Glu) | |
2 | g.135943425T>G | CA348653767 | DARS1 | c.376A>C (p.Lys126Gln) c.471A>C c.277A>C (p.Lys93Gln) n.373A>C c.76A>C (p.Lys26Gln) | |
2 | g.135943426C>A | CA348653770 | DARS1 | c.375G>T (p.Gln125His) c.470G>T c.276G>T (p.Gln92His) n.372G>T c.75G>T (p.Gln25His) | |
2 | g.135943426C= | CA1290890816 | DARS1 | c.375G= (p.Gln125=) c.470G= c.276G= (p.Gln92=) n.372G= c.75G= (p.Gln25=) | |
2 | g.135943426C>G | CA56846218 | DARS1 | c.375G>C (p.Gln125His) c.470G>C c.276G>C (p.Gln92His) n.372G>C c.75G>C (p.Gln25His) | dbSNP COSMIC |
2 | g.135943426C>T | CA429179193 | DARS1 | c.375G>A (p.Gln125=) c.470G>A c.276G>A (p.Gln92=) n.372G>A c.75G>A (p.Gln25=) | |
2 | g.135943427T>A | CA348653772 | DARS1 | c.374A>T (p.Gln125Leu) c.469A>T c.275A>T (p.Gln92Leu) n.371A>T c.74A>T (p.Gln25Leu) | |
2 | g.135943427T>C | CA348653774 | DARS1 | c.374A>G (p.Gln125Arg) c.469A>G c.275A>G (p.Gln92Arg) n.371A>G c.74A>G (p.Gln25Arg) | |
2 | g.135943427T>G | CA348653777 | DARS1 | c.374A>C (p.Gln125Pro) c.469A>C c.275A>C (p.Gln92Pro) n.371A>C c.74A>C (p.Gln25Pro) | |
2 | g.135943428G>A | CA348653779 | DARS1 | c.373C>T (p.Gln125Ter) c.468C>T c.274C>T (p.Gln92Ter) n.370C>T c.73C>T (p.Gln25Ter) | |
2 | g.135943428G>C | CA348653780 | DARS1 | c.373C>G (p.Gln125Glu) c.468C>G c.274C>G (p.Gln92Glu) n.370C>G c.73C>G (p.Gln25Glu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.135943428G= | CA1290890817 | DARS1 | c.373C= (p.Gln125=) c.468C= c.274C= (p.Gln92=) n.370C= c.73C= (p.Gln25=) | |
2 | g.135943428G>T | CA348653782 | DARS1 | c.373C>A (p.Gln125Lys) c.468C>A c.274C>A (p.Gln92Lys) n.370C>A c.73C>A (p.Gln25Lys) | |
2 | g.135943429A= | CA1290890818 | DARS1 | c.372T= (p.Asn124=) c.467T= c.273T= (p.Asn91=) n.369T= c.72T= (p.Asn24=) | |
2 | g.135943429A>C | CA348653787 | DARS1 | c.372T>G (p.Asn124Lys) c.467T>G c.273T>G (p.Asn91Lys) n.369T>G c.72T>G (p.Asn24Lys) | |
2 | g.135943429A>G | CA1889848 | DARS1 | c.372T>C (p.Asn124=) c.467T>C c.273T>C (p.Asn91=) n.369T>C c.72T>C (p.Asn24=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135943429A>T | CA348653785 | DARS1 | c.372T>A (p.Asn124Lys) c.467T>A c.273T>A (p.Asn91Lys) n.369T>A c.72T>A (p.Asn24Lys) | |
2 | g.135943430T>A | CA348653789 | DARS1 | c.371A>T (p.Asn124Ile) c.466A>T c.272A>T (p.Asn91Ile) n.368A>T c.71A>T (p.Asn24Ile) | |
2 | g.135943430T>C | CA348653791 | DARS1 | c.371A>G (p.Asn124Ser) c.466A>G c.272A>G (p.Asn91Ser) n.368A>G c.71A>G (p.Asn24Ser) | dbSNP |
2 | g.135943430T>G | CA348653793 | DARS1 | c.371A>C (p.Asn124Thr) c.466A>C c.272A>C (p.Asn91Thr) n.368A>C c.71A>C (p.Asn24Thr) | |
2 | g.135943430T= | CA1290890819 | DARS1 | c.371A= (p.Asn124=) c.466A= c.272A= (p.Asn91=) n.368A= c.71A= (p.Asn24=) | |
2 | g.135943431T>A | CA348653795 | DARS1 | c.370A>T (p.Asn124Tyr) c.465A>T c.271A>T (p.Asn91Tyr) n.367A>T c.70A>T (p.Asn24Tyr) | gnomAD v4 |
2 | g.135943431T>C | CA348653797 | DARS1 | c.370A>G (p.Asn124Asp) c.465A>G c.271A>G (p.Asn91Asp) n.367A>G c.70A>G (p.Asn24Asp) | |
2 | g.135943431T>G | CA348653799 | DARS1 | c.370A>C (p.Asn124His) c.465A>C c.271A>C (p.Asn91His) n.367A>C c.70A>C (p.Asn24His) | |
2 | g.135943432C>A | CA1889849 | DARS1 | c.369G>T (p.Val123=) c.464G>T c.270G>T (p.Val90=) n.366G>T c.69G>T (p.Val23=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135943432C= | CA1290890820 | DARS1 | c.369G= (p.Val123=) c.464G= c.270G= (p.Val90=) n.366G= c.69G= (p.Val23=) | |
2 | g.135943432C>G | CA429179194 | DARS1 | c.369G>C (p.Val123=) c.464G>C c.270G>C (p.Val90=) n.366G>C c.69G>C (p.Val23=) | |
2 | g.135943432C>T | CA429179195 | DARS1 | c.369G>A (p.Val123=) c.464G>A c.270G>A (p.Val90=) n.366G>A c.69G>A (p.Val23=) | |
2 | g.135943433A>C | CA348653803 | DARS1 | c.368T>G (p.Val123Gly) c.463T>G c.269T>G (p.Val90Gly) n.365T>G c.68T>G (p.Val23Gly) | |
2 | g.135943433A>G | CA348653805 | DARS1 | c.368T>C (p.Val123Ala) c.463T>C c.269T>C (p.Val90Ala) n.365T>C c.68T>C (p.Val23Ala) | |
2 | g.135943433A>T | CA348653807 | DARS1 | c.368T>A (p.Val123Glu) c.463T>A c.269T>A (p.Val90Glu) n.365T>A c.68T>A (p.Val23Glu) | |
2 | g.135943434C>A | CA348653809 | DARS1 | c.367G>T (p.Val123Leu) c.462G>T c.268G>T (p.Val90Leu) n.364G>T c.67G>T (p.Val23Leu) | |
2 | g.135943434C= | CA1290890821 | DARS1 | c.367G= (p.Val123=) c.462G= c.268G= (p.Val90=) n.364G= c.67G= (p.Val23=) | |
2 | g.135943434C>G | CA348653810 | DARS1 | c.367G>C (p.Val123Leu) c.462G>C c.268G>C (p.Val90Leu) n.364G>C c.67G>C (p.Val23Leu) | gnomAD v4 |
2 | g.135943434C>T | CA348653812 | DARS1 | c.367G>A (p.Val123Met) c.462G>A c.268G>A (p.Val90Met) n.364G>A c.67G>A (p.Val23Met) | dbSNP |
2 | g.135943435T>A | CA348653815 | DARS1 | c.366A>T (p.Lys122Asn) c.461A>T c.267A>T (p.Lys89Asn) n.363A>T c.66A>T (p.Lys22Asn) | |
2 | g.135943435T>C | CA1889850 | DARS1 | c.366A>G (p.Lys122=) c.461A>G c.267A>G (p.Lys89=) n.363A>G c.66A>G (p.Lys22=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135943435T>G | CA348653816 | DARS1 | c.366A>C (p.Lys122Asn) c.461A>C c.267A>C (p.Lys89Asn) n.363A>C c.66A>C (p.Lys22Asn) | |
2 | g.135943435T= | CA1290890822 | DARS1 | c.366A= (p.Lys122=) c.461A= c.267A= (p.Lys89=) n.363A= c.66A= (p.Lys22=) | |
2 | g.135943436T>A | CA348653820 | DARS1 | c.365A>T (p.Lys122Ile) c.460A>T c.266A>T (p.Lys89Ile) n.362A>T c.65A>T (p.Lys22Ile) | |
2 | g.135943436T>C | CA348653822 | DARS1 | c.365A>G (p.Lys122Arg) c.460A>G c.266A>G (p.Lys89Arg) n.362A>G c.65A>G (p.Lys22Arg) | |
2 | g.135943436T>G | CA348653824 | DARS1 | c.365A>C (p.Lys122Thr) c.460A>C c.266A>C (p.Lys89Thr) n.362A>C c.65A>C (p.Lys22Thr) | |
2 | g.135943437T>A | CA348653826 | DARS1 | c.364A>T (p.Lys122Ter) c.459A>T c.265A>T (p.Lys89Ter) n.361A>T c.64A>T (p.Lys22Ter) | |
2 | g.135943437T>C | CA348653828 | DARS1 | c.364A>G (p.Lys122Glu) c.459A>G c.265A>G (p.Lys89Glu) n.361A>G c.64A>G (p.Lys22Glu) | |
2 | g.135943437T>G | CA348653830 | DARS1 | c.364A>C (p.Lys122Gln) c.459A>C c.265A>C (p.Lys89Gln) n.361A>C c.64A>C (p.Lys22Gln) | |
2 | g.135943438T>A | CA348653832 | DARS1 | c.363A>T (p.Arg121Ser) c.458A>T c.264A>T (p.Arg88Ser) n.360A>T c.63A>T (p.Arg21Ser) | |
2 | g.135943438T>C | CA429179196 | DARS1 | c.363A>G (p.Arg121=) c.458A>G c.264A>G (p.Arg88=) n.360A>G c.63A>G (p.Arg21=) | |
2 | g.135943438T>G | CA348653834 | DARS1 | c.363A>C (p.Arg121Ser) c.458A>C c.264A>C (p.Arg88Ser) n.360A>C c.63A>C (p.Arg21Ser) | |
2 | g.135943439C>A | CA348653837 | DARS1 | c.362G>T (p.Arg121Ile) c.457G>T c.263G>T (p.Arg88Ile) n.359G>T c.62G>T (p.Arg21Ile) | |
2 | g.135943439C>G | CA348653838 | DARS1 | c.362G>C (p.Arg121Thr) c.457G>C c.263G>C (p.Arg88Thr) n.359G>C c.62G>C (p.Arg21Thr) | |
2 | g.135943439C>T | CA348653840 | DARS1 | c.362G>A (p.Arg121Lys) c.457G>A c.263G>A (p.Arg88Lys) n.359G>A c.62G>A (p.Arg21Lys) | |
2 | g.135943440T>A | CA348653843 | DARS1 | c.361A>T (p.Arg121Ter) c.456A>T c.262A>T (p.Arg88Ter) n.358A>T c.61A>T (p.Arg21Ter) | |
2 | g.135943440T>C | CA348653844 | DARS1 | c.361A>G (p.Arg121Gly) c.456A>G c.262A>G (p.Arg88Gly) n.358A>G c.61A>G (p.Arg21Gly) | |
2 | g.135943440T>G | CA429179197 | DARS1 | c.361A>C (p.Arg121=) c.456A>C c.262A>C (p.Arg88=) n.358A>C c.61A>C (p.Arg21=) | |
2 | g.135943441C>A | CA429179198 | DARS1 | c.360G>T (p.Val120=) c.455G>T c.261G>T (p.Val87=) n.357G>T c.60G>T (p.Val20=) | COSMIC |
2 | g.135943441C>G | CA429179199 | DARS1 | c.360G>C (p.Val120=) c.455G>C c.261G>C (p.Val87=) n.357G>C c.60G>C (p.Val20=) | |
2 | g.135943441C>T | CA429179200 | DARS1 | c.360G>A (p.Val120=) c.455G>A c.261G>A (p.Val87=) n.357G>A c.60G>A (p.Val20=) | |
2 | g.135943442A>C | CA348653850 | DARS1 | c.359T>G (p.Val120Gly) c.454T>G c.260T>G (p.Val87Gly) n.356T>G c.59T>G (p.Val20Gly) | |
2 | g.135943442A>G | CA348653847 | DARS1 | c.359T>C (p.Val120Ala) c.454T>C c.260T>C (p.Val87Ala) n.356T>C c.59T>C (p.Val20Ala) | |
2 | g.135943442A>T | CA348653848 | DARS1 | c.359T>A (p.Val120Glu) c.454T>A c.260T>A (p.Val87Glu) n.356T>A c.59T>A (p.Val20Glu) | |
2 | g.135943443C>A | CA348653853 | DARS1 | c.358G>T (p.Val120Leu) c.453G>T c.259G>T (p.Val87Leu) n.355G>T c.58G>T (p.Val20Leu) | |
2 | g.135943443C= | CA1290890823 | DARS1 | c.358G= (p.Val120=) c.453G= c.259G= (p.Val87=) n.355G= c.58G= (p.Val20=) | |
2 | g.135943443C>G | CA348653855 | DARS1 | c.358G>C (p.Val120Leu) c.453G>C c.259G>C (p.Val87Leu) n.355G>C c.58G>C (p.Val20Leu) | |
2 | g.135943443C>T | CA348653857 | DARS1 | c.358G>A (p.Val120Met) c.453G>A c.259G>A (p.Val87Met) n.355G>A c.58G>A (p.Val20Met) | dbSNP gnomAD v2 |
2 | g.135943444A>C | CA429179201 | DARS1 | c.357T>G (p.Val119=) c.452T>G c.258T>G (p.Val86=) n.354T>G c.57T>G (p.Val19=) | |
2 | g.135943444A>G | CA429179203 | DARS1 | c.357T>C (p.Val119=) c.452T>C c.258T>C (p.Val86=) n.354T>C c.57T>C (p.Val19=) | ClinVar gnomAD v4 |
2 | g.135943444A>T | CA429179202 | DARS1 | c.357T>A (p.Val119=) c.452T>A c.258T>A (p.Val86=) n.354T>A c.57T>A (p.Val19=) | |
2 | g.135943445A= | CA1290890824 | DARS1 | c.356T= (p.Val119=) c.451T= c.257T= (p.Val86=) n.353T= c.56T= (p.Val19=) | |
2 | g.135943445A>C | CA348653859 | DARS1 | c.356T>G (p.Val119Gly) c.451T>G c.257T>G (p.Val86Gly) n.353T>G c.56T>G (p.Val19Gly) | |
2 | g.135943445A>G | CA1889851 | DARS1 | c.356T>C (p.Val119Ala) c.451T>C c.257T>C (p.Val86Ala) n.353T>C c.56T>C (p.Val19Ala) | dbSNP ExAC gnomAD v2 |
2 | g.135943445A>T | CA348653861 | DARS1 | c.356T>A (p.Val119Asp) c.451T>A c.257T>A (p.Val86Asp) n.353T>A c.56T>A (p.Val19Asp) | |
2 | g.135943446C>A | CA348653863 | DARS1 | c.355G>T (p.Val119Phe) c.450G>T c.256G>T (p.Val86Phe) n.352G>T c.55G>T (p.Val19Phe) | |
2 | g.135943446C= | CA1290890825 | DARS1 | c.355G= (p.Val119=) c.450G= c.256G= (p.Val86=) n.352G= c.55G= (p.Val19=) | |
2 | g.135943446C>G | CA348653865 | DARS1 | c.355G>C (p.Val119Leu) c.450G>C c.256G>C (p.Val86Leu) n.352G>C c.55G>C (p.Val19Leu) | |
2 | g.135943446C>T | CA348653867 | DARS1 | c.355G>A (p.Val119Ile) c.450G>A c.256G>A (p.Val86Ile) n.352G>A c.55G>A (p.Val19Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.135943447A>C | CA429179204 | DARS1 | c.354T>G (p.Gly118=) c.449T>G c.255T>G (p.Gly85=) n.351T>G c.54T>G (p.Gly18=) | |
2 | g.135943447A>G | CA429179205 | DARS1 | c.354T>C (p.Gly118=) c.449T>C c.255T>C (p.Gly85=) n.351T>C c.54T>C (p.Gly18=) | |
2 | g.135943447A>T | CA429179206 | DARS1 | c.354T>A (p.Gly118=) c.449T>A c.255T>A (p.Gly85=) n.351T>A c.54T>A (p.Gly18=) | gnomAD v4 |
2 | g.135943448C>A | CA348653869 | DARS1 | c.353G>T (p.Gly118Val) c.448G>T c.254G>T (p.Gly85Val) n.350G>T c.53G>T (p.Gly18Val) | gnomAD v4 |
2 | g.135943448C>G | CA348653871 | DARS1 | c.353G>C (p.Gly118Ala) c.448G>C c.254G>C (p.Gly85Ala) n.350G>C c.53G>C (p.Gly18Ala) | |
2 | g.135943448C>T | CA348653873 | DARS1 | c.353G>A (p.Gly118Asp) c.448G>A c.254G>A (p.Gly85Asp) n.350G>A c.53G>A (p.Gly18Asp) | |
2 | g.135943449C>A | CA348653876 | DARS1 | c.352G>T (p.Gly118Cys) c.447G>T c.253G>T (p.Gly85Cys) n.349G>T c.52G>T (p.Gly18Cys) | |
2 | g.135943449C>G | CA348653879 | DARS1 | c.352G>C (p.Gly118Arg) c.447G>C c.253G>C (p.Gly85Arg) n.349G>C c.52G>C (p.Gly18Arg) | |
2 | g.135943449C>T | CA348653878 | DARS1 | c.352G>A (p.Gly118Ser) c.447G>A c.253G>A (p.Gly85Ser) n.349G>A c.52G>A (p.Gly18Ser) | |
2 | g.135943450T>A | CA348653882 | DARS1 | c.351A>T (p.Glu117Asp) c.446A>T c.252A>T (p.Glu84Asp) n.348A>T c.51A>T (p.Glu17Asp) | |
2 | g.135943450T>C | CA429179207 | DARS1 | c.351A>G (p.Glu117=) c.446A>G c.252A>G (p.Glu84=) n.348A>G c.51A>G (p.Glu17=) | dbSNP |
2 | g.135943450T>G | CA348653884 | DARS1 | c.351A>C (p.Glu117Asp) c.446A>C c.252A>C (p.Glu84Asp) n.348A>C c.51A>C (p.Glu17Asp) | |
2 | g.135943450T= | CA1290890826 | DARS1 | c.351A= (p.Glu117=) c.446A= c.252A= (p.Glu84=) n.348A= c.51A= (p.Glu17=) | |
2 | g.135943451T>A | CA348653887 | DARS1 | c.350A>T (p.Glu117Val) c.445A>T c.251A>T (p.Glu84Val) n.347A>T c.50A>T (p.Glu17Val) | |
2 | g.135943451T>C | CA348653888 | DARS1 | c.350A>G (p.Glu117Gly) c.445A>G c.251A>G (p.Glu84Gly) n.347A>G c.50A>G (p.Glu17Gly) | |
2 | g.135943451T>G | CA348653890 | DARS1 | c.350A>C (p.Glu117Ala) c.445A>C c.251A>C (p.Glu84Ala) n.347A>C c.50A>C (p.Glu17Ala) | |
2 | g.135943452C>A | CA348653896 | DARS1 | c.349G>T (p.Glu117Ter) c.444G>T c.250G>T (p.Glu84Ter) n.346G>T c.49G>T (p.Glu17Ter) | |
2 | g.135943452C>G | CA348653894 | DARS1 | c.349G>C (p.Glu117Gln) c.444G>C c.250G>C (p.Glu84Gln) n.346G>C c.49G>C (p.Glu17Gln) | |
2 | g.135943452C>T | CA348653893 | DARS1 | c.349G>A (p.Glu117Lys) c.444G>A c.250G>A (p.Glu84Lys) n.346G>A c.49G>A (p.Glu17Lys) | |
2 | g.135943453T>A | CA429179209 | DARS1 | c.348A>T (p.Val116=) c.443A>T c.249A>T (p.Val83=) n.345A>T c.48A>T (p.Val16=) | |
2 | g.135943453T>C | CA429179210 | DARS1 | c.348A>G (p.Val116=) c.443A>G c.249A>G (p.Val83=) n.345A>G c.48A>G (p.Val16=) | |
2 | g.135943453T>G | CA429179211 | DARS1 | c.348A>C (p.Val116=) c.443A>C c.249A>C (p.Val83=) n.345A>C c.48A>C (p.Val16=) | |
2 | g.135943454A>C | CA348653899 | DARS1 | c.347T>G (p.Val116Gly) c.442T>G c.248T>G (p.Val83Gly) n.344T>G c.47T>G (p.Val16Gly) | |
2 | g.135943454A>G | CA348653900 | DARS1 | c.347T>C (p.Val116Ala) c.442T>C c.248T>C (p.Val83Ala) n.344T>C c.47T>C (p.Val16Ala) | |
2 | g.135943454A>T | CA348653902 | DARS1 | c.347T>A (p.Val116Glu) c.442T>A c.248T>A (p.Val83Glu) n.344T>A c.47T>A (p.Val16Glu) | |
2 | g.135943455C>A | CA348653904 | DARS1 | c.346G>T (p.Val116Leu) c.441G>T c.247G>T (p.Val83Leu) n.343G>T c.46G>T (p.Val16Leu) | |
2 | g.135943455C= | CA1290890827 | DARS1 | c.346G= (p.Val116=) c.441G= c.247G= (p.Val83=) n.343G= c.46G= (p.Val16=) | |
2 | g.135943455C>G | CA348653905 | DARS1 | c.346G>C (p.Val116Leu) c.441G>C c.247G>C (p.Val83Leu) n.343G>C c.46G>C (p.Val16Leu) | |
2 | g.135943455C>T | CA348653907 | DARS1 | c.346G>A (p.Val116Ile) c.441G>A c.247G>A (p.Val83Ile) n.343G>A c.46G>A (p.Val16Ile) | dbSNP gnomAD v4 |
2 | g.135943456A= | CA1290890828 | DARS1 | c.345T= (p.Asp115=) c.440T= c.246T= (p.Asp82=) n.342T= c.45T= (p.Asp15=) | |
2 | g.135943456A>C | CA348653912 | DARS1 | c.345T>G (p.Asp115Glu) c.440T>G c.246T>G (p.Asp82Glu) n.342T>G c.45T>G (p.Asp15Glu) | |
2 | g.135943456A>G | CA1889852 | DARS1 | c.345T>C (p.Asp115=) c.440T>C c.246T>C (p.Asp82=) n.342T>C c.45T>C (p.Asp15=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135943456A>T | CA348653911 | DARS1 | c.345T>A (p.Asp115Glu) c.440T>A c.246T>A (p.Asp82Glu) n.342T>A c.45T>A (p.Asp15Glu) | |
2 | g.135943457T>A | CA348653915 | DARS1 | c.344A>T (p.Asp115Val) c.439A>T c.245A>T (p.Asp82Val) n.341A>T c.44A>T (p.Asp15Val) | |
2 | g.135943457T>C | CA348653917 | DARS1 | c.344A>G (p.Asp115Gly) c.439A>G c.245A>G (p.Asp82Gly) n.341A>G c.44A>G (p.Asp15Gly) | |
2 | g.135943457T>G | CA348653919 | DARS1 | c.344A>C (p.Asp115Ala) c.439A>C c.245A>C (p.Asp82Ala) n.341A>C c.44A>C (p.Asp15Ala) | |
2 | g.135943458C>A | CA56846222 | DARS1 | c.343G>T (p.Asp115Tyr) c.438G>T c.244G>T (p.Asp82Tyr) n.340G>T c.43G>T (p.Asp15Tyr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.135943458C= | CA1290890829 | DARS1 | c.343G= (p.Asp115=) c.438G= c.244G= (p.Asp82=) n.340G= c.43G= (p.Asp15=) | |
2 | g.135943458C>G | CA348653921 | DARS1 | c.343G>C (p.Asp115His) c.438G>C c.244G>C (p.Asp82His) n.340G>C c.43G>C (p.Asp15His) | |
2 | g.135943458C>T | CA348653923 | DARS1 | c.343G>A (p.Asp115Asn) c.438G>A c.244G>A (p.Asp82Asn) n.340G>A c.43G>A (p.Asp15Asn) | dbSNP gnomAD v4 |
2 | g.135943459C>A | CA429179215 | DARS1 | c.342G>T (p.Val114=) c.437G>T c.243G>T (p.Val81=) n.339G>T c.42G>T (p.Val14=) | |
2 | g.135943459C>G | CA429179216 | DARS1 | c.342G>C (p.Val114=) c.437G>C c.243G>C (p.Val81=) n.339G>C c.42G>C (p.Val14=) | |
2 | g.135943459C>T | CA429179217 | DARS1 | c.342G>A (p.Val114=) c.437G>A c.243G>A (p.Val81=) n.339G>A c.42G>A (p.Val14=) | gnomAD v4 |
2 | g.135943460A>C | CA348653925 | DARS1 | c.341T>G (p.Val114Gly) c.436T>G c.242T>G (p.Val81Gly) n.338T>G c.41T>G (p.Val14Gly) | |
2 | g.135943460A>G | CA348653926 | DARS1 | c.341T>C (p.Val114Ala) c.436T>C c.242T>C (p.Val81Ala) n.338T>C c.41T>C (p.Val14Ala) | |
2 | g.135943460A>T | CA348653929 | DARS1 | c.341T>A (p.Val114Glu) c.436T>A c.242T>A (p.Val81Glu) n.338T>A c.41T>A (p.Val14Glu) | |
2 | g.135943461C>A | CA348653931 | DARS1 | c.340G>T (p.Val114Leu) c.435G>T c.241G>T (p.Val81Leu) n.337G>T c.40G>T (p.Val14Leu) | |
2 | g.135943461C>G | CA348653933 | DARS1 | c.340G>C (p.Val114Leu) c.435G>C c.241G>C (p.Val81Leu) n.337G>C c.40G>C (p.Val14Leu) | |
2 | g.135943461C>T | CA348653935 | DARS1 | c.340G>A (p.Val114Met) c.435G>A c.241G>A (p.Val81Met) n.337G>A c.40G>A (p.Val14Met) | |
2 | g.135943462A>C | CA348653936 | DARS1 | c.339T>G (p.Ile113Met) c.434T>G c.240T>G (p.Ile80Met) n.336T>G c.39T>G (p.Ile13Met) | |
2 | g.135943462A>G | CA429179219 | DARS1 | c.339T>C (p.Ile113=) c.434T>C c.240T>C (p.Ile80=) n.336T>C c.39T>C (p.Ile13=) | |
2 | g.135943462A>T | CA429179220 | DARS1 | c.339T>A (p.Ile113=) c.434T>A c.240T>A (p.Ile80=) n.336T>A c.39T>A (p.Ile13=) | |
2 | g.135943463A>C | CA348653939 | DARS1 | c.338T>G (p.Ile113Ser) c.433T>G c.239T>G (p.Ile80Ser) n.335T>G c.38T>G (p.Ile13Ser) | |
2 | g.135943463A>G | CA348653942 | DARS1 | c.338T>C (p.Ile113Thr) c.433T>C c.239T>C (p.Ile80Thr) n.335T>C c.38T>C (p.Ile13Thr) | |
2 | g.135943463A>T | CA348653941 | DARS1 | c.338T>A (p.Ile113Asn) c.433T>A c.239T>A (p.Ile80Asn) n.335T>A c.38T>A (p.Ile13Asn) | |
2 | g.135943464T>A | CA348653945 | DARS1 | c.337A>T (p.Ile113Phe) c.432A>T c.238A>T (p.Ile80Phe) n.334A>T c.37A>T (p.Ile13Phe) | |
2 | g.135943464T>C | CA1889853 | DARS1 | c.337A>G (p.Ile113Val) c.432A>G c.238A>G (p.Ile80Val) n.334A>G c.37A>G (p.Ile13Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135943464T>G | CA348653947 | DARS1 | c.337A>C (p.Ile113Leu) c.432A>C c.238A>C (p.Ile80Leu) n.334A>C c.37A>C (p.Ile13Leu) | |
2 | g.135943464T= | CA1290890830 | DARS1 | c.337A= (p.Ile113=) c.432A= c.238A= (p.Ile80=) n.334A= c.37A= (p.Ile13=) | |
2 | g.135943465G>A | CA429179223 | DARS1 | c.336C>T (p.Ser112=) c.431C>T c.237C>T (p.Ser79=) n.333C>T c.36C>T (p.Ser12=) | |
2 | g.135943465G>C | CA348653950 | DARS1 | c.336C>G (p.Ser112Arg) c.431C>G c.237C>G (p.Ser79Arg) n.333C>G c.36C>G (p.Ser12Arg) | |
2 | g.135943465G>T | CA348653951 | DARS1 | c.336C>A (p.Ser112Arg) c.431C>A c.237C>A (p.Ser79Arg) n.333C>A c.36C>A (p.Ser12Arg) | |
2 | g.135943466C>A | CA348653953 | DARS1 | c.335G>T (p.Ser112Ile) c.430G>T c.236G>T (p.Ser79Ile) n.332G>T c.35G>T (p.Ser12Ile) | |
2 | g.135943466C>G | CA348653955 | DARS1 | c.335G>C (p.Ser112Thr) c.430G>C c.236G>C (p.Ser79Thr) n.332G>C c.35G>C (p.Ser12Thr) | gnomAD v4 |
2 | g.135943466C>T | CA348653956 | DARS1 | c.335G>A (p.Ser112Asn) c.430G>A c.236G>A (p.Ser79Asn) n.332G>A c.35G>A (p.Ser12Asn) | gnomAD v4 |
2 | g.135943467T>A | CA348653959 | DARS1 | c.334A>T (p.Ser112Cys) c.429A>T c.235A>T (p.Ser79Cys) n.331A>T c.34A>T (p.Ser12Cys) | |
2 | g.135943467T>C | CA348653961 | DARS1 | c.334A>G (p.Ser112Gly) c.429A>G c.235A>G (p.Ser79Gly) n.331A>G c.34A>G (p.Ser12Gly) | |
2 | g.135943467T>G | CA348653962 | DARS1 | c.334A>C (p.Ser112Arg) c.429A>C c.235A>C (p.Ser79Arg) n.331A>C c.34A>C (p.Ser12Arg) | |
2 | g.135943468C>A | CA348653965 | DARS1 | c.333G>T (p.Glu111Asp) c.428G>T c.234G>T (p.Glu78Asp) n.330G>T c.33G>T (p.Glu11Asp) | |
2 | g.135943468C>G | CA348653967 | DARS1 | c.333G>C (p.Glu111Asp) c.428G>C c.234G>C (p.Glu78Asp) n.330G>C c.33G>C (p.Glu11Asp) | |
2 | g.135943468C>T | CA429179226 | DARS1 | c.333G>A (p.Glu111=) c.428G>A c.234G>A (p.Glu78=) n.330G>A c.33G>A (p.Glu11=) | |
2 | g.135943469T>A | CA348653968 | DARS1 | c.332A>T (p.Glu111Val) c.427A>T c.233A>T (p.Glu78Val) n.329A>T c.32A>T (p.Glu11Val) | |
2 | g.135943469T>C | CA348653972 | DARS1 | c.332A>G (p.Glu111Gly) c.427A>G c.233A>G (p.Glu78Gly) n.329A>G c.32A>G (p.Glu11Gly) | |
2 | g.135943469T>G | CA348653970 | DARS1 | c.332A>C (p.Glu111Ala) c.427A>C c.233A>C (p.Glu78Ala) n.329A>C c.32A>C (p.Glu11Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.135943469T= | CA1290890831 | DARS1 | c.332A= (p.Glu111=) c.427A= c.233A= (p.Glu78=) n.329A= c.32A= (p.Glu11=) | |
2 | g.135943470C>A | CA348653975 | DARS1 | c.331G>T (p.Glu111Ter) c.426G>T c.232G>T (p.Glu78Ter) n.328G>T c.31G>T (p.Glu11Ter) | |
2 | g.135943470C>G | CA348653976 | DARS1 | c.331G>C (p.Glu111Gln) c.426G>C c.232G>C (p.Glu78Gln) n.328G>C c.31G>C (p.Glu11Gln) | |
2 | g.135943470C>T | CA348653978 | DARS1 | c.331G>A (p.Glu111Lys) c.426G>A c.232G>A (p.Glu78Lys) n.328G>A c.31G>A (p.Glu11Lys) | COSMIC |
2 | g.135943471T>A | CA348653980 | DARS1 | c.330A>T (p.Lys110Asn) c.425A>T c.231A>T (p.Lys77Asn) n.327A>T c.30A>T (p.Lys10Asn) | |
2 | g.135943471T>C | CA429179228 | DARS1 | c.330A>G (p.Lys110=) c.425A>G c.231A>G (p.Lys77=) n.327A>G c.30A>G (p.Lys10=) | |
2 | g.135943471T>G | CA348653982 | DARS1 | c.330A>C (p.Lys110Asn) c.425A>C c.231A>C (p.Lys77Asn) n.327A>C c.30A>C (p.Lys10Asn) | |
2 | g.135943472_135943473del | CA2661284279 | DARS1 | c.329_330del (p.Lys110ArgfsTer26) c.424_425del c.230_231del (p.Lys77ArgfsTer26) n.326_327del c.29_30del (p.Lys10ArgfsTer26) | gnomAD v4 |
2 | g.135943472T>A | CA348653984 | DARS1 | c.329A>T (p.Lys110Ile) c.424A>T c.230A>T (p.Lys77Ile) n.326A>T c.29A>T (p.Lys10Ile) | |
2 | g.135943472T>C | CA348653986 | DARS1 | c.329A>G (p.Lys110Arg) c.424A>G c.230A>G (p.Lys77Arg) n.326A>G c.29A>G (p.Lys10Arg) | |
2 | g.135943472T>G | CA348653987 | DARS1 | c.329A>C (p.Lys110Thr) c.424A>C c.230A>C (p.Lys77Thr) n.326A>C c.29A>C (p.Lys10Thr) | |
2 | g.135943473T>A | CA348653990 | DARS1 | c.328A>T (p.Lys110Ter) c.423A>T c.229A>T (p.Lys77Ter) n.325A>T c.28A>T (p.Lys10Ter) | |
2 | g.135943473T>C | CA348653991 | DARS1 | c.328A>G (p.Lys110Glu) c.423A>G c.229A>G (p.Lys77Glu) n.325A>G c.28A>G (p.Lys10Glu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.135943473T>G | CA348653993 | DARS1 | c.328A>C (p.Lys110Gln) c.423A>C c.229A>C (p.Lys77Gln) n.325A>C c.28A>C (p.Lys10Gln) | |
2 | g.135943473T= | CA1290890832 | DARS1 | c.328A= (p.Lys110=) c.423A= c.229A= (p.Lys77=) n.325A= c.28A= (p.Lys10=) | |
2 | g.135943474G>A | CA429179232 | DARS1 | c.327C>T (p.Asn109=) c.422C>T c.228C>T (p.Asn76=) n.324C>T c.27C>T (p.Asn9=) | |
2 | g.135943474G>C | CA348653996 | DARS1 | c.327C>G (p.Asn109Lys) c.422C>G c.228C>G (p.Asn76Lys) n.324C>G c.27C>G (p.Asn9Lys) | |
2 | g.135943474G= | CA1290890833 | DARS1 | c.327C= (p.Asn109=) c.422C= c.228C= (p.Asn76=) n.324C= c.27C= (p.Asn9=) | |
2 | g.135943474G>T | CA348653997 | DARS1 | c.327C>A (p.Asn109Lys) c.422C>A c.228C>A (p.Asn76Lys) n.324C>A c.27C>A (p.Asn9Lys) | dbSNP |
2 | g.135943475T>A | CA348654000 | DARS1 | c.326A>T (p.Asn109Ile) c.421A>T c.227A>T (p.Asn76Ile) n.323A>T c.26A>T (p.Asn9Ile) | dbSNP gnomAD v4 |
2 | g.135943475T>C | CA348654003 | DARS1 | c.326A>G (p.Asn109Ser) c.421A>G c.227A>G (p.Asn76Ser) n.323A>G c.26A>G (p.Asn9Ser) | |
2 | g.135943475T>G | CA348654001 | DARS1 | c.326A>C (p.Asn109Thr) c.421A>C c.227A>C (p.Asn76Thr) n.323A>C c.26A>C (p.Asn9Thr) | |
2 | g.135943475T= | CA1290890834 | DARS1 | c.326A= (p.Asn109=) c.421A= c.227A= (p.Asn76=) n.323A= c.26A= (p.Asn9=) | |
2 | g.135943476T>A | CA348654006 | DARS1 | c.325A>T (p.Asn109Tyr) c.420A>T c.226A>T (p.Asn76Tyr) n.322A>T c.25A>T (p.Asn9Tyr) | |
2 | g.135943476T>C | CA348654009 | DARS1 | c.325A>G (p.Asn109Asp) c.420A>G c.226A>G (p.Asn76Asp) n.322A>G c.25A>G (p.Asn9Asp) | |
2 | g.135943476T>G | CA348654007 | DARS1 | c.325A>C (p.Asn109His) c.420A>C c.226A>C (p.Asn76His) n.322A>C c.25A>C (p.Asn9His) | gnomAD v4 |
2 | g.135943477G>A | CA429179233 | DARS1 | c.324C>T (p.Ile108=) c.419C>T c.225C>T (p.Ile75=) n.321C>T c.24C>T (p.Ile8=) | |
2 | g.135943477G>C | CA348654011 | DARS1 | c.324C>G (p.Ile108Met) c.419C>G c.225C>G (p.Ile75Met) n.321C>G c.24C>G (p.Ile8Met) | |
2 | g.135943477G>T | CA429179234 | DARS1 | c.324C>A (p.Ile108=) c.419C>A c.225C>A (p.Ile75=) n.321C>A c.24C>A (p.Ile8=) | |
2 | g.135943478A>C | CA348654014 | DARS1 | c.323T>G (p.Ile108Ser) c.418T>G c.224T>G (p.Ile75Ser) n.320T>G c.23T>G (p.Ile8Ser) | |
2 | g.135943478A>G | CA348654016 | DARS1 | c.323T>C (p.Ile108Thr) c.418T>C c.224T>C (p.Ile75Thr) n.320T>C c.23T>C (p.Ile8Thr) | |
2 | g.135943478A>T | CA348654018 | DARS1 | c.323T>A (p.Ile108Asn) c.418T>A c.224T>A (p.Ile75Asn) n.320T>A c.23T>A (p.Ile8Asn) | |
2 | g.135943479T>A | CA348654020 | DARS1 | c.322A>T (p.Ile108Phe) c.417A>T c.223A>T (p.Ile75Phe) n.319A>T c.22A>T (p.Ile8Phe) | |
2 | g.135943479T>C | CA348654021 | DARS1 | c.322A>G (p.Ile108Val) c.417A>G c.223A>G (p.Ile75Val) n.319A>G c.22A>G (p.Ile8Val) | |
2 | g.135943479T>G | CA348654022 | DARS1 | c.322A>C (p.Ile108Leu) c.417A>C c.223A>C (p.Ile75Leu) n.319A>C c.22A>C (p.Ile8Leu) | |
2 | g.135943480G>A | CA429179238 | DARS1 | c.321C>T (p.Asn107=) c.416C>T c.222C>T (p.Asn74=) n.318C>T c.21C>T (p.Asn7=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.135943480G>C | CA348654025 | DARS1 | c.321C>G (p.Asn107Lys) c.416C>G c.222C>G (p.Asn74Lys) n.318C>G c.21C>G (p.Asn7Lys) | |
2 | g.135943480G= | CA1290890835 | DARS1 | c.321C= (p.Asn107=) c.416C= c.222C= (p.Asn74=) n.318C= c.21C= (p.Asn7=) | |
2 | g.135943480G>T | CA348654026 | DARS1 | c.321C>A (p.Asn107Lys) c.416C>A c.222C>A (p.Asn74Lys) n.318C>A c.21C>A (p.Asn7Lys) | |
2 | g.135943481C>A | CA348654029 | DARS1 | c.321-1G>T (n.321-1G>T) c.416-1G>T c.222-1G>T (n.222-1G>T) n.318-1G>T c.21-1G>T (n.21-1G>T) | |
2 | g.135943481C>G | CA348654031 | DARS1 | c.321-1G>C (n.321-1G>C) c.416-1G>C c.222-1G>C (n.222-1G>C) n.318-1G>C c.21-1G>C (n.21-1G>C) | |
2 | g.135943481C>T | CA348654033 | DARS1 | c.321-1G>A (n.321-1G>A) c.416-1G>A c.222-1G>A (n.222-1G>A) n.318-1G>A c.21-1G>A (n.21-1G>A) | |
2 | g.135943482T>A | CA348654039 | DARS1 | c.321-2A>T (n.321-2A>T) c.416-2A>T c.222-2A>T (n.222-2A>T) n.318-2A>T c.21-2A>T (n.21-2A>T) | |
2 | g.135943482T>C | CA348654035 | DARS1 | c.321-2A>G (n.321-2A>G) c.416-2A>G c.222-2A>G (n.222-2A>G) n.318-2A>G c.21-2A>G (n.21-2A>G) | |
2 | g.135943482T>G | CA348654037 | DARS1 | c.321-2A>C (n.321-2A>C) c.416-2A>C c.222-2A>C (n.222-2A>C) n.318-2A>C c.21-2A>C (n.21-2A>C) | |
2 | g.135943485C= | CA1290890836 | DARS1 | c.321-5G= (n.321-5G=) c.416-5G= c.222-5G= (n.222-5G=) n.318-5G= c.21-5G= (n.21-5G=) | |
2 | g.135943485C>G | CA1290890837 | DARS1 | c.321-5G>C (n.321-5G>C) c.416-5G>C c.222-5G>C (n.222-5G>C) n.318-5G>C c.21-5G>C (n.21-5G>C) | dbSNP gnomAD v4 |
2 | g.135943485C>T | CA2661284280 | DARS1 | c.321-5G>A (n.321-5G>A) c.416-5G>A c.222-5G>A (n.222-5G>A) n.318-5G>A c.21-5G>A (n.21-5G>A) | gnomAD v4 |
2 | g.135943486A>G | CA2700500945 | DARS1 | c.321-6T>C (n.321-6T>C) c.416-6T>C c.222-6T>C (n.222-6T>C) n.318-6T>C c.21-6T>C (n.21-6T>C) | dbSNP |
2 | g.135943487A= | CA1290890838 | DARS1 | c.321-7T= (n.321-7T=) c.416-7T= c.222-7T= (n.222-7T=) n.318-7T= c.21-7T= (n.21-7T=) | |
2 | g.135943487A>G | CA1889855 | DARS1 | c.321-7T>C (n.321-7T>C) c.416-7T>C c.222-7T>C (n.222-7T>C) n.318-7T>C c.21-7T>C (n.21-7T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135943487A>T | CA1889854 | DARS1 | c.321-7T>A (n.321-7T>A) c.416-7T>A c.222-7T>A (n.222-7T>A) n.318-7T>A c.21-7T>A (n.21-7T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135943489A= | CA1290890839 | DARS1 | c.321-9T= (n.321-9T=) c.416-9T= c.222-9T= (n.222-9T=) n.318-9T= c.21-9T= (n.21-9T=) | |
2 | g.135943489A>C | CA56846226 | DARS1 | c.321-9T>G (n.321-9T>G) c.416-9T>G c.222-9T>G (n.222-9T>G) n.318-9T>G c.21-9T>G (n.21-9T>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.135943490G>A | CA1889857 | DARS1 | c.321-10C>T (n.321-10C>T) c.416-10C>T c.222-10C>T (n.222-10C>T) n.318-10C>T c.21-10C>T (n.21-10C>T) | dbSNP ExAC gnomAD v2 |
2 | g.135943490G= | CA1290890840 | DARS1 | c.321-10C= (n.321-10C=) c.416-10C= c.222-10C= (n.222-10C=) n.318-10C= c.21-10C= (n.21-10C=) | |
2 | g.135943490G>T | CA1889856 | DARS1 | c.321-10C>A (n.321-10C>A) c.416-10C>A c.222-10C>A (n.222-10C>A) n.318-10C>A c.21-10C>A (n.21-10C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135943491A= | CA1290890841 | DARS1 | c.321-11T= (n.321-11T=) c.416-11T= c.222-11T= (n.222-11T=) n.318-11T= c.21-11T= (n.21-11T=) | |
2 | g.135943491A>C | CA1889858 | DARS1 | c.321-11T>G (n.321-11T>G) c.416-11T>G c.222-11T>G (n.222-11T>G) n.318-11T>G c.21-11T>G (n.21-11T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.135943496dup | CA2661284281 | DARS1 | c.321-11dup (n.321-11dup) c.416-11dup c.222-11dup (n.222-11dup) n.318-11dup c.21-11dup (n.21-11dup) | gnomAD v4 |
2 | g.135943496A= | CA1290890842 | DARS1 | c.321-16T= (n.321-16T=) c.416-16T= c.222-16T= (n.222-16T=) n.318-16T= c.21-16T= (n.21-16T=) | |
2 | g.135943496A>G | CA2661284282 | DARS1 | c.321-16T>C (n.321-16T>C) c.416-16T>C c.222-16T>C (n.222-16T>C) n.318-16T>C c.21-16T>C (n.21-16T>C) | gnomAD v4 |
2 | g.135943496A>T | CA536535206 | DARS1 | c.321-16T>A (n.321-16T>A) c.416-16T>A c.222-16T>A (n.222-16T>A) n.318-16T>A c.21-16T>A (n.21-16T>A) | dbSNP gnomAD v2 |
2 | g.135943496_135943497insG | CA1290890843 | DARS1 | c.321-17_321-16insC (n.321-17_321-16insC) c.416-17_416-16insC c.222-17_222-16insC (n.222-17_222-16insC) n.318-17_318-16insC c.21-17_21-16insC (n.21-17_21-16insC) | dbSNP |
2 | g.135943498T>C | CA2661284283 | DARS1 | c.321-18A>G (n.321-18A>G) c.416-18A>G c.222-18A>G (n.222-18A>G) n.318-18A>G c.21-18A>G (n.21-18A>G) | gnomAD v4 |
2 | g.135943499C= | CA1290890844 | DARS1 | c.321-19G= (n.321-19G=) c.416-19G= c.222-19G= (n.222-19G=) n.318-19G= c.21-19G= (n.21-19G=) | |
2 | g.135943499C>G | CA1889859 | DARS1 | c.321-19G>C (n.321-19G>C) c.416-19G>C c.222-19G>C (n.222-19G>C) n.318-19G>C c.21-19G>C (n.21-19G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135943499C>T | CA1290890845 | DARS1 | c.321-19G>A (n.321-19G>A) c.416-19G>A c.222-19G>A (n.222-19G>A) n.318-19G>A c.21-19G>A (n.21-19G>A) | dbSNP |
2 | g.135943501C>T | CA2661284284 | DARS1 | c.321-21G>A (n.321-21G>A) c.416-21G>A c.222-21G>A (n.222-21G>A) n.318-21G>A c.21-21G>A (n.21-21G>A) | gnomAD v4 |
2 | g.135943503_135943504delinsAC | CA1290890846 | DARS1 | c.321-24_321-23delinsGT (n.321-24_321-23delinsGT) c.416-24_416-23delinsGT c.222-24_222-23delinsGT (n.222-24_222-23delinsGT) n.318-24_318-23delinsGT c.21-24_21-23delinsGT (n.21-24_21-23delinsGT) | |
2 | g.135943504del | CA1036816005 | DARS1 | c.321-24del (n.321-24del) c.416-24del c.222-24del (n.222-24del) n.318-24del c.21-24del (n.21-24del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.135943504C>A | CA2661284285 | DARS1 | c.321-24G>T (n.321-24G>T) c.416-24G>T c.222-24G>T (n.222-24G>T) n.318-24G>T c.21-24G>T (n.21-24G>T) | gnomAD v4 |
2 | g.135943504C>T | CA2661284286 | DARS1 | c.321-24G>A (n.321-24G>A) c.416-24G>A c.222-24G>A (n.222-24G>A) n.318-24G>A c.21-24G>A (n.21-24G>A) | gnomAD v4 |
2 | g.135943505T>C | CA2577108641 | DARS1 | c.321-25A>G (n.321-25A>G) c.416-25A>G c.222-25A>G (n.222-25A>G) n.318-25A>G c.21-25A>G (n.21-25A>G) | |
2 | g.135943510T>G | CA1290890848 | DARS1 | c.321-30A>C (n.321-30A>C) c.416-30A>C c.222-30A>C (n.222-30A>C) n.318-30A>C c.21-30A>C (n.21-30A>C) | dbSNP |
2 | g.135943510T= | CA1290890847 | DARS1 | c.321-30A= (n.321-30A=) c.416-30A= c.222-30A= (n.222-30A=) n.318-30A= c.21-30A= (n.21-30A=) | |
2 | g.135943515_135943519del | CA2661284287 | DARS1 | c.321-34_321-30del (n.321-34_321-30del) c.416-34_416-30del c.222-34_222-30del (n.222-34_222-30del) n.318-34_318-30del c.21-34_21-30del (n.21-34_21-30del) | gnomAD v4 |
2 | g.135943511C>A | CA2661284288 | DARS1 | c.321-31G>T (n.321-31G>T) c.416-31G>T c.222-31G>T (n.222-31G>T) n.318-31G>T c.21-31G>T (n.21-31G>T) | gnomAD v4 |
2 | g.135943511C= | CA1290890849 | DARS1 | c.321-31G= (n.321-31G=) c.416-31G= c.222-31G= (n.222-31G=) n.318-31G= c.21-31G= (n.21-31G=) | |
2 | g.135943511C>T | CA536535207 | DARS1 | c.321-31G>A (n.321-31G>A) c.416-31G>A c.222-31G>A (n.222-31G>A) n.318-31G>A c.21-31G>A (n.21-31G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.135943512A>G | CA2577108643 | DARS1 | c.321-32T>C (n.321-32T>C) c.416-32T>C c.222-32T>C (n.222-32T>C) n.318-32T>C c.21-32T>C (n.21-32T>C) | gnomAD v4 |
2 | g.135943512A>T | CA2661284289 | DARS1 | c.321-32T>A (n.321-32T>A) c.416-32T>A c.222-32T>A (n.222-32T>A) n.318-32T>A c.21-32T>A (n.21-32T>A) | gnomAD v4 |
2 | g.135943513T>C | CA2661284290 | DARS1 | c.321-33A>G (n.321-33A>G) c.416-33A>G c.222-33A>G (n.222-33A>G) n.318-33A>G c.21-33A>G (n.21-33A>G) | gnomAD v4 |
2 | g.135943514C>G | CA2661284291 | DARS1 | c.321-34G>C (n.321-34G>C) c.416-34G>C c.222-34G>C (n.222-34G>C) n.318-34G>C c.21-34G>C (n.21-34G>C) | gnomAD v4 |
2 | g.135943514C>T | CA2661284292 | DARS1 | c.321-34G>A (n.321-34G>A) c.416-34G>A c.222-34G>A (n.222-34G>A) n.318-34G>A c.21-34G>A (n.21-34G>A) | gnomAD v4 |
2 | g.135943515T>C | CA1889860 | DARS1 | c.321-35A>G (n.321-35A>G) c.416-35A>G c.222-35A>G (n.222-35A>G) n.318-35A>G c.21-35A>G (n.21-35A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135943515T= | CA1290890850 | DARS1 | c.321-35A= (n.321-35A=) c.416-35A= c.222-35A= (n.222-35A=) n.318-35A= c.21-35A= (n.21-35A=) | |
2 | g.135943517A= | CA1290890851 | DARS1 | c.321-37T= (n.321-37T=) c.416-37T= c.222-37T= (n.222-37T=) n.318-37T= c.21-37T= (n.21-37T=) | |
2 | g.135943517A>C | CA2661284293 | DARS1 | c.321-37T>G (n.321-37T>G) c.416-37T>G c.222-37T>G (n.222-37T>G) n.318-37T>G c.21-37T>G (n.21-37T>G) | gnomAD v4 |
2 | g.135943517A>G | CA2661284294 | DARS1 | c.321-37T>C (n.321-37T>C) c.416-37T>C c.222-37T>C (n.222-37T>C) n.318-37T>C c.21-37T>C (n.21-37T>C) | gnomAD v4 |
2 | g.135943517A>T | CA56846232 | DARS1 | c.321-37T>A (n.321-37T>A) c.416-37T>A c.222-37T>A (n.222-37T>A) n.318-37T>A c.21-37T>A (n.21-37T>A) | dbSNP |
2 | g.135943518T>A | CA2752324790 | DARS1 | c.321-38A>T (n.321-38A>T) c.416-38A>T c.222-38A>T (n.222-38A>T) n.318-38A>T c.21-38A>T (n.21-38A>T) | |
2 | g.135943518T>C | CA2752324791 | DARS1 | c.321-38A>G (n.321-38A>G) c.416-38A>G c.222-38A>G (n.222-38A>G) n.318-38A>G c.21-38A>G (n.21-38A>G) | |
2 | g.135943518T>G | CA2577108646 | DARS1 | c.321-38A>C (n.321-38A>C) c.416-38A>C c.222-38A>C (n.222-38A>C) n.318-38A>C c.21-38A>C (n.21-38A>C) | |
2 | g.135943519C= | CA1290890853 | DARS1 | c.321-39G= (n.321-39G=) c.416-39G= c.222-39G= (n.222-39G=) n.318-39G= c.21-39G= (n.21-39G=) | |
2 | g.135943519C>T | CA1290890852 | DARS1 | c.321-39G>A (n.321-39G>A) c.416-39G>A c.222-39G>A (n.222-39G>A) n.318-39G>A c.21-39G>A (n.21-39G>A) | dbSNP |
2 | g.135943522A= | CA1290890854 | DARS1 | c.321-42T= (n.321-42T=) c.416-42T= c.222-42T= (n.222-42T=) n.318-42T= c.21-42T= (n.21-42T=) | |
2 | g.135943522A>G | CA2752324792 | DARS1 | c.321-42T>C (n.321-42T>C) c.416-42T>C c.222-42T>C (n.222-42T>C) n.318-42T>C c.21-42T>C (n.21-42T>C) | |
2 | g.135943522A>T | CA1889861 | DARS1 | c.321-42T>A (n.321-42T>A) c.416-42T>A c.222-42T>A (n.222-42T>A) n.318-42T>A c.21-42T>A (n.21-42T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135943522_135943523delinsAG | CA1290890855 | DARS1 | c.321-43_321-42delinsCT (n.321-43_321-42delinsCT) c.416-43_416-42delinsCT c.222-43_222-42delinsCT (n.222-43_222-42delinsCT) n.318-43_318-42delinsCT c.21-43_21-42delinsCT (n.21-43_21-42delinsCT) |