| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.21845195C>A | CA515419232 | MBTPS2 | c.249C>A (p.Gly83=) n.348C>A | |
| X | g.21845195C= | CA2419080821 | MBTPS2 | c.249C= (p.Gly83=) n.348C= | |
| X | g.21845195C>G | CA515419231 | MBTPS2 | c.249C>G (p.Gly83=) n.348C>G | |
| X | g.21845195C>T | CA10367320 | MBTPS2 | c.249C>T (p.Gly83=) n.348C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.21845196G>A | CA10367321 | MBTPS2 | c.250G>A (p.Val84Ile) n.349G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.21845196G>C | CA412561751 | MBTPS2 | c.250G>C (p.Val84Leu) n.349G>C | |
| X | g.21845196G= | CA2419080822 | MBTPS2 | c.250G= (p.Val84=) n.349G= | |
| X | g.21845196G>T | CA412561752 | MBTPS2 | c.250G>T (p.Val84Leu) n.349G>T | |
| X | g.21845197T>A | CA412561753 | MBTPS2 | c.251T>A (p.Val84Glu) n.350T>A | |
| X | g.21845197T>C | CA412561754 | MBTPS2 | c.251T>C (p.Val84Ala) n.350T>C | |
| X | g.21845197T>G | CA412561755 | MBTPS2 | c.251T>G (p.Val84Gly) n.350T>G | |
| X | g.21845198A= | CA2419080823 | MBTPS2 | c.252A= (p.Val84=) n.351A= | |
| X | g.21845198A>C | CA515419233 | MBTPS2 | c.252A>C (p.Val84=) n.351A>C | |
| X | g.21845198A>G | CA515419234 | MBTPS2 | c.252A>G (p.Val84=) n.351A>G | |
| X | g.21845198A>T | CA515419235 | MBTPS2 | c.252A>T (p.Val84=) n.351A>T | |
| X | g.21845198_21845199insGGAAGATGGGATGTTCGCGGGGATTTGTG | CA2419080824 | MBTPS2 | c.252_253insGGAAGATGGGATGTTCGCGGGGATTTGTG (p.Ile85GlyfsTer10) n.351_352insGGAAGATGGGATGTTCGCGGGGATTTGTG | dbSNP |
| X | g.21845199A>C | CA412561756 | MBTPS2 | c.253A>C (p.Ile85Leu) n.352A>C | |
| X | g.21845199A>G | CA412561757 | MBTPS2 | c.253A>G (p.Ile85Val) n.352A>G | |
| X | g.21845199A>T | CA412561758 | MBTPS2 | c.253A>T (p.Ile85Phe) n.352A>T | |
| X | g.21845200T>A | CA412561759 | MBTPS2 | c.254T>A (p.Ile85Asn) n.353T>A | |
| X | g.21845200T>C | CA412561760 | MBTPS2 | c.254T>C (p.Ile85Thr) n.353T>C | ClinVar dbSNP gnomAD v4 |
| X | g.21845200T>G | CA412561761 | MBTPS2 | c.254T>G (p.Ile85Ser) n.353T>G | |
| X | g.21845200T= | CA2419080825 | MBTPS2 | c.254T= (p.Ile85=) n.353T= | |
| X | g.21845201T>A | CA515419236 | MBTPS2 | c.255T>A (p.Ile85=) n.354T>A | |
| X | g.21845201T>C | CA515419237 | MBTPS2 | c.255T>C (p.Ile85=) n.354T>C | |
| X | g.21845201T>G | CA412561762 | MBTPS2 | c.255T>G (p.Ile85Met) n.354T>G | gnomAD v4 |
| X | g.21845202G>A | CA412561763 | MBTPS2 | c.256G>A (p.Ala86Thr) n.355G>A | |
| X | g.21845202G>C | CA412561764 | MBTPS2 | c.256G>C (p.Ala86Pro) n.355G>C | |
| X | g.21845202G>T | CA412561765 | MBTPS2 | c.256G>T (p.Ala86Ser) n.355G>T | |
| X | g.21845203C>A | CA412561768 | MBTPS2 | c.257C>A (p.Ala86Asp) n.356C>A | |
| X | g.21845203C>G | CA412561766 | MBTPS2 | c.257C>G (p.Ala86Gly) n.356C>G | |
| X | g.21845203C>T | CA412561767 | MBTPS2 | c.257C>T (p.Ala86Val) n.356C>T | |
| X | g.21845204C>A | CA515419238 | MBTPS2 | c.258C>A (p.Ala86=) n.357C>A | |
| X | g.21845204C= | CA2419080826 | MBTPS2 | c.258C= (p.Ala86=) n.357C= | |
| X | g.21845204C>G | CA515419239 | MBTPS2 | c.258C>G (p.Ala86=) n.357C>G | dbSNP |
| X | g.21845204C>T | CA515419241 | MBTPS2 | c.258C>T (p.Ala86=) n.357C>T | |
| X | g.21845205A= | CA2419080827 | MBTPS2 | c.259A= (p.Met87=) n.358A= | |
| X | g.21845205A>C | CA412561769 | MBTPS2 | c.259A>C (p.Met87Leu) n.358A>C | |
| X | g.21845205A>G | CA412561770 | MBTPS2 | c.259A>G (p.Met87Val) n.358A>G | |
| X | g.21845205A>T | CA10367322 | MBTPS2 | c.259A>T (p.Met87Leu) n.358A>T | dbSNP ExAC |
| X | g.21845206T>A | CA412561771 | MBTPS2 | c.260T>A (p.Met87Lys) n.359T>A | |
| X | g.21845206T>C | CA10367323 | MBTPS2 | c.260T>C (p.Met87Thr) n.359T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.21845206T>G | CA412561772 | MBTPS2 | c.260T>G (p.Met87Arg) n.359T>G | |
| X | g.21845206T= | CA2419080828 | MBTPS2 | c.260T= (p.Met87=) n.359T= | |
| X | g.21845207G>A | CA121440 | MBTPS2 | c.261G>A (p.Met87Ile) n.360G>A | ClinVar dbSNP |
| X | g.21845207G>C | CA412561773 | MBTPS2 | c.261G>C (p.Met87Ile) n.360G>C | |
| X | g.21845207G= | CA2419080829 | MBTPS2 | c.261G= (p.Met87=) n.360G= | |
| X | g.21845207G>T | CA412561774 | MBTPS2 | c.261G>T (p.Met87Ile) n.360G>T | |
| X | g.21845208T>A | CA412561775 | MBTPS2 | c.262T>A (p.Phe88Ile) n.361T>A | |
| X | g.21845208T>C | CA412561776 | MBTPS2 | c.262T>C (p.Phe88Leu) n.361T>C | |
| X | g.21845208T>G | CA412561777 | MBTPS2 | c.262T>G (p.Phe88Val) n.361T>G | |
| X | g.21845209T>A | CA412561778 | MBTPS2 | c.263T>A (p.Phe88Tyr) n.362T>A | |
| X | g.21845209T>C | CA412561780 | MBTPS2 | c.263T>C (p.Phe88Ser) n.362T>C | |
| X | g.21845209T>G | CA412561779 | MBTPS2 | c.263T>G (p.Phe88Cys) n.362T>G | |
| X | g.21845210T>A | CA412561781 | MBTPS2 | c.264T>A (p.Phe88Leu) n.363T>A | |
| X | g.21845210T>C | CA515419249 | MBTPS2 | c.264T>C (p.Phe88=) n.363T>C | dbSNP gnomAD v2 gnomAD v4 |
| X | g.21845210T>G | CA412561782 | MBTPS2 | c.264T>G (p.Phe88Leu) n.363T>G | |
| X | g.21845210T= | CA2419080830 | MBTPS2 | c.264T= (p.Phe88=) n.363T= | |
| X | g.21845211A>C | CA412561783 | MBTPS2 | c.265A>C (p.Ser89Arg) n.364A>C | |
| X | g.21845211A>G | CA412561784 | MBTPS2 | c.265A>G (p.Ser89Gly) n.364A>G | |
| X | g.21845211A>T | CA412561785 | MBTPS2 | c.265A>T (p.Ser89Cys) n.364A>T | |
| X | g.21845212G>A | CA412561786 | MBTPS2 | c.266G>A (p.Ser89Asn) n.365G>A | |
| X | g.21845212G>C | CA412561787 | MBTPS2 | c.266G>C (p.Ser89Thr) n.365G>C | gnomAD v4 |
| X | g.21845212G>T | CA412561788 | MBTPS2 | c.266G>T (p.Ser89Ile) n.365G>T | gnomAD v4 |
| X | g.21845213C>A | CA412561789 | MBTPS2 | c.267C>A (p.Ser89Arg) n.366C>A | |
| X | g.21845213C>G | CA412561790 | MBTPS2 | c.267C>G (p.Ser89Arg) n.366C>G | |
| X | g.21845213C>T | CA515419252 | MBTPS2 | c.267C>T (p.Ser89=) n.366C>T | |
| X | g.21845214T>A | CA412561791 | MBTPS2 | c.268T>A (p.Ser90Thr) n.367T>A | |
| X | g.21845214T>C | CA412561792 | MBTPS2 | c.268T>C (p.Ser90Pro) n.367T>C | |
| X | g.21845214T>G | CA412561793 | MBTPS2 | c.268T>G (p.Ser90Ala) n.367T>G | |
| X | g.21845215C>A | CA10367324 | MBTPS2 | c.269C>A (p.Ser90Ter) n.368C>A | dbSNP ExAC gnomAD v2 |
| X | g.21845215C= | CA2419080831 | MBTPS2 | c.269C= (p.Ser90=) n.368C= | |
| X | g.21845215C>G | CA412561794 | MBTPS2 | c.269C>G (p.Ser90Ter) n.368C>G | |
| X | g.21845215C>T | CA412561795 | MBTPS2 | c.269C>T (p.Ser90Leu) n.368C>T | |
| X | g.21845216A>C | CA515419257 | MBTPS2 | c.270A>C (p.Ser90=) n.369A>C | |
| X | g.21845216A>G | CA515419255 | MBTPS2 | c.270A>G (p.Ser90=) n.369A>G | |
| X | g.21845216A>T | CA515419256 | MBTPS2 | c.270A>T (p.Ser90=) n.369A>T | |
| X | g.21845217T>A | CA412561796 | MBTPS2 | c.271T>A (p.Phe91Ile) n.370T>A | dbSNP gnomAD v4 |
| X | g.21845217T>C | CA412561797 | MBTPS2 | c.271T>C (p.Phe91Leu) n.370T>C | |
| X | g.21845217T>G | CA412561798 | MBTPS2 | c.271T>G (p.Phe91Val) n.370T>G | |
| X | g.21845217T= | CA2419080832 | MBTPS2 | c.271T= (p.Phe91=) n.370T= | |
| X | g.21845218T>A | CA412561799 | MBTPS2 | c.272T>A (p.Phe91Tyr) n.371T>A | |
| X | g.21845218T>C | CA412561800 | MBTPS2 | c.272T>C (p.Phe91Ser) n.371T>C | |
| X | g.21845218T>G | CA412561801 | MBTPS2 | c.272T>G (p.Phe91Cys) n.371T>G | |
| X | g.21845219T>A | CA412561802 | MBTPS2 | c.273T>A (p.Phe91Leu) n.372T>A | |
| X | g.21845219T>C | CA515419260 | MBTPS2 | c.273T>C (p.Phe91=) n.372T>C | |
| X | g.21845219T>G | CA412561803 | MBTPS2 | c.273T>G (p.Phe91Leu) n.372T>G | |
| X | g.21845220T>A | CA412561804 | MBTPS2 | c.274T>A (p.Phe92Ile) n.373T>A | |
| X | g.21845220T>C | CA327502253 | MBTPS2 | c.274T>C (p.Phe92Leu) n.373T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.21845220T>G | CA412561805 | MBTPS2 | c.274T>G (p.Phe92Val) n.373T>G | |
| X | g.21845220T= | CA2419080833 | MBTPS2 | c.274T= (p.Phe92=) n.373T= | |
| X | g.21845221T>A | CA412561807 | MBTPS2 | c.275T>A (p.Phe92Tyr) n.374T>A | |
| X | g.21845221T>C | CA412561808 | MBTPS2 | c.275T>C (p.Phe92Ser) n.374T>C | gnomAD v4 |
| X | g.21845221T>G | CA412561806 | MBTPS2 | c.275T>G (p.Phe92Cys) n.374T>G | |
| X | g.21845222T>A | CA412561809 | MBTPS2 | c.276T>A (p.Phe92Leu) n.375T>A | |
| X | g.21845222T>C | CA515419265 | MBTPS2 | c.276T>C (p.Phe92=) n.375T>C | |
| X | g.21845222T>G | CA412561810 | MBTPS2 | c.276T>G (p.Phe92Leu) n.375T>G | |
| X | g.21845223C>A | CA412561811 | MBTPS2 | c.277C>A (p.Leu93Ile) n.376C>A | |
| X | g.21845223C>G | CA412561812 | MBTPS2 | c.277C>G (p.Leu93Val) n.376C>G | |
| X | g.21845223C>T | CA412561813 | MBTPS2 | c.277C>T (p.Leu93Phe) n.376C>T | |
| X | g.21845224T>A | CA412561814 | MBTPS2 | c.278T>A (p.Leu93His) n.377T>A | |
| X | g.21845224T>C | CA412561815 | MBTPS2 | c.278T>C (p.Leu93Pro) n.377T>C | |
| X | g.21845224T>G | CA412561816 | MBTPS2 | c.278T>G (p.Leu93Arg) n.377T>G | |
| X | g.21845225C>A | CA515419268 | MBTPS2 | c.279C>A (p.Leu93=) n.378C>A | |
| X | g.21845225C>G | CA515419270 | MBTPS2 | c.279C>G (p.Leu93=) n.378C>G | |
| X | g.21845225C>T | CA515419273 | MBTPS2 | c.279C>T (p.Leu93=) n.378C>T | |
| X | g.21845226C>A | CA412561817 | MBTPS2 | c.280C>A (p.Leu94Ile) n.379C>A | |
| X | g.21845226C>G | CA412561818 | MBTPS2 | c.280C>G (p.Leu94Val) n.379C>G | |
| X | g.21845226C>T | CA412561819 | MBTPS2 | c.280C>T (p.Leu94Phe) n.379C>T | |
| X | g.21845227T>A | CA412561821 | MBTPS2 | c.281T>A (p.Leu94His) n.380T>A | |
| X | g.21845227T>C | CA412561822 | MBTPS2 | c.281T>C (p.Leu94Pro) n.380T>C | |
| X | g.21845227T>G | CA412561820 | MBTPS2 | c.281T>G (p.Leu94Arg) n.380T>G | |
| X | g.21845228T>A | CA515419275 | MBTPS2 | c.282T>A (p.Leu94=) n.381T>A | |
| X | g.21845228T>C | CA515419276 | MBTPS2 | c.282T>C (p.Leu94=) n.381T>C | |
| X | g.21845228T>G | CA515419277 | MBTPS2 | c.282T>G (p.Leu94=) n.381T>G | dbSNP |
| X | g.21845228T= | CA2419080834 | MBTPS2 | c.282T= (p.Leu94=) n.381T= | |
| X | g.21845229G>A | CA412561823 | MBTPS2 | c.283G>A (p.Gly95Arg) n.382G>A | |
| X | g.21845229G>C | CA412561824 | MBTPS2 | c.283G>C (p.Gly95Arg) n.382G>C | |
| X | g.21845229G>T | CA412561825 | MBTPS2 | c.283G>T (p.Gly95Ter) n.382G>T | |
| X | g.21845230G>A | CA412561826 | MBTPS2 | c.284G>A (p.Gly95Glu) n.383G>A | |
| X | g.21845230G>C | CA412561827 | MBTPS2 | c.284G>C (p.Gly95Ala) n.383G>C | |
| X | g.21845230G>T | CA412561828 | MBTPS2 | c.284G>T (p.Gly95Val) n.383G>T | |
| X | g.21845231A= | CA2419080835 | MBTPS2 | c.285A= (p.Gly95=) n.384A= | |
| X | g.21845231A>C | CA515419285 | MBTPS2 | c.285A>C (p.Gly95=) n.384A>C | |
| X | g.21845231A>G | CA515419286 | MBTPS2 | c.285A>G (p.Gly95=) n.384A>G | dbSNP gnomAD v2 gnomAD v4 |
| X | g.21845231A>T | CA515419288 | MBTPS2 | c.285A>T (p.Gly95=) n.384A>T | |
| X | g.21845232A>C | CA412561829 | MBTPS2 | c.286A>C (p.Lys96Gln) n.385A>C | |
| X | g.21845232A>G | CA412561831 | MBTPS2 | c.286A>G (p.Lys96Glu) n.385A>G | |
| X | g.21845232A>T | CA412561830 | MBTPS2 | c.286A>T (p.Lys96Ter) n.385A>T | |
| X | g.21845233A>C | CA412561832 | MBTPS2 | c.287A>C (p.Lys96Thr) n.386A>C | |
| X | g.21845233A>G | CA412561833 | MBTPS2 | c.287A>G (p.Lys96Arg) n.386A>G | |
| X | g.21845233A>T | CA412561834 | MBTPS2 | c.287A>T (p.Lys96Ile) n.386A>T | |
| X | g.21845234A>C | CA412561835 | MBTPS2 | c.288A>C (p.Lys96Asn) n.387A>C | |
| X | g.21845234A>G | CA515419295 | MBTPS2 | c.288A>G (p.Lys96=) n.387A>G | |
| X | g.21845234A>T | CA412561836 | MBTPS2 | c.288A>T (p.Lys96Asn) n.387A>T | |
| X | g.21845235A>C | CA412561838 | MBTPS2 | c.289A>C (p.Thr97Pro) n.388A>C | |
| X | g.21845235A>G | CA412561839 | MBTPS2 | c.289A>G (p.Thr97Ala) n.388A>G | |
| X | g.21845235A>T | CA412561837 | MBTPS2 | c.289A>T (p.Thr97Ser) n.388A>T | |
| X | g.21845236C>A | CA412561841 | MBTPS2 | c.290C>A (p.Thr97Lys) n.389C>A | |
| X | g.21845236C= | CA2419080836 | MBTPS2 | c.290C= (p.Thr97=) n.389C= | |
| X | g.21845236C>G | CA412561840 | MBTPS2 | c.290C>G (p.Thr97Arg) n.389C>G | |
| X | g.21845236C>T | CA10367325 | MBTPS2 | c.290C>T (p.Thr97Met) n.389C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.21845237G>A | CA10367326 | MBTPS2 | c.291G>A (p.Thr97=) n.390G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.21845237G>C | CA515419302 | MBTPS2 | c.291G>C (p.Thr97=) n.390G>C | |
| X | g.21845237G= | CA2419080837 | MBTPS2 | c.291G= (p.Thr97=) n.390G= | |
| X | g.21845237G>T | CA515419300 | MBTPS2 | c.291G>T (p.Thr97=) n.390G>T | |
| X | g.21845238C>A | CA412561842 | MBTPS2 | c.292C>A (p.Leu98Met) n.391C>A | |
| X | g.21845238C>G | CA412561843 | MBTPS2 | c.292C>G (p.Leu98Val) n.391C>G | |
| X | g.21845238C>T | CA515419310 | MBTPS2 | c.292C>T (p.Leu98=) n.391C>T | |
| X | g.21845239T>A | CA412561846 | MBTPS2 | c.293T>A (p.Leu98Gln) n.392T>A | |
| X | g.21845239T>C | CA412561845 | MBTPS2 | c.293T>C (p.Leu98Pro) n.392T>C | |
| X | g.21845239T>G | CA412561844 | MBTPS2 | c.293T>G (p.Leu98Arg) n.392T>G | |
| X | g.21845240G>A | CA515419311 | MBTPS2 | c.294G>A (p.Leu98=) n.393G>A | |
| X | g.21845240G>C | CA515419314 | MBTPS2 | c.294G>C (p.Leu98=) n.393G>C | |
| X | g.21845240G>T | CA515419316 | MBTPS2 | c.294G>T (p.Leu98=) n.393G>T | |
| X | g.21845241A>C | CA412561847 | MBTPS2 | c.295A>C (p.Met99Leu) n.394A>C | |
| X | g.21845241A>G | CA412561848 | MBTPS2 | c.295A>G (p.Met99Val) n.394A>G | |
| X | g.21845241A>T | CA412561849 | MBTPS2 | c.295A>T (p.Met99Leu) n.394A>T | |
| X | g.21845242T>A | CA412561850 | MBTPS2 | c.296T>A (p.Met99Lys) n.395T>A | |
| X | g.21845242T>C | CA412561851 | MBTPS2 | c.296T>C (p.Met99Thr) n.395T>C | |
| X | g.21845242T>G | CA412561852 | MBTPS2 | c.296T>G (p.Met99Arg) n.395T>G | |
| X | g.21845243G>A | CA412561853 | MBTPS2 | c.297G>A (p.Met99Ile) n.396G>A | |
| X | g.21845243G>C | CA412561855 | MBTPS2 | c.297G>C (p.Met99Ile) n.396G>C | |
| X | g.21845243G>T | CA412561854 | MBTPS2 | c.297G>T (p.Met99Ile) n.396G>T | |
| X | g.21845244C>A | CA412561856 | MBTPS2 | c.298C>A (p.Gln100Lys) n.397C>A | |
| X | g.21845244C>G | CA412561857 | MBTPS2 | c.298C>G (p.Gln100Glu) n.397C>G | |
| X | g.21845244C>T | CA412561858 | MBTPS2 | c.298C>T (p.Gln100Ter) n.397C>T | |
| X | g.21845245A>C | CA412561859 | MBTPS2 | c.299A>C (p.Gln100Pro) n.398A>C | |
| X | g.21845245A>G | CA412561860 | MBTPS2 | c.299A>G (p.Gln100Arg) n.398A>G | |
| X | g.21845245A>T | CA412561861 | MBTPS2 | c.299A>T (p.Gln100Leu) n.398A>T | |
| X | g.21845246G>A | CA515419326 | MBTPS2 | c.300G>A (p.Gln100=) n.399G>A | |
| X | g.21845246G>C | CA412561862 | MBTPS2 | c.300G>C (p.Gln100His) n.399G>C | |
| X | g.21845246G>T | CA412561863 | MBTPS2 | c.300G>T (p.Gln100His) n.399G>T | |
| X | g.21845247A>C | CA412561864 | MBTPS2 | c.301A>C (p.Thr101Pro) n.400A>C | |
| X | g.21845247A>G | CA412561865 | MBTPS2 | c.301A>G (p.Thr101Ala) n.400A>G | |
| X | g.21845247A>T | CA412561866 | MBTPS2 | c.301A>T (p.Thr101Ser) n.400A>T | |
| X | g.21845248C>A | CA412561869 | MBTPS2 | c.302C>A (p.Thr101Asn) n.401C>A | |
| X | g.21845248C>G | CA412561868 | MBTPS2 | c.302C>G (p.Thr101Ser) n.401C>G | |
| X | g.21845248C>T | CA412561867 | MBTPS2 | c.302C>T (p.Thr101Ile) n.401C>T | gnomAD v4 |
| X | g.21845249T>A | CA515419334 | MBTPS2 | c.303T>A (p.Thr101=) n.402T>A | |
| X | g.21845249T>C | CA515419335 | MBTPS2 | c.303T>C (p.Thr101=) n.402T>C | |
| X | g.21845249T>G | CA515419336 | MBTPS2 | c.303T>G (p.Thr101=) n.402T>G | |
| X | g.21845250T>A | CA412561871 | MBTPS2 | c.304T>A (p.Leu102Met) n.403T>A | |
| X | g.21845250T>C | CA515419337 | MBTPS2 | c.304T>C (p.Leu102=) n.403T>C | |
| X | g.21845250T>G | CA412561870 | MBTPS2 | c.304T>G (p.Leu102Val) n.403T>G | ClinVar |
| X | g.21845251T>A | CA412561872 | MBTPS2 | c.305T>A (p.Leu102Ter) n.404T>A | |
| X | g.21845251T>C | CA412561873 | MBTPS2 | c.305T>C (p.Leu102Ser) n.404T>C | |
| X | g.21845251T>G | CA412561874 | MBTPS2 | c.305T>G (p.Leu102Trp) n.404T>G | |
| X | g.21845252G>A | CA515419340 | MBTPS2 | c.306G>A (p.Leu102=) n.405G>A | dbSNP |
| X | g.21845252G>C | CA412561875 | MBTPS2 | c.306G>C (p.Leu102Phe) n.405G>C | |
| X | g.21845252G= | CA2419080838 | MBTPS2 | c.306G= (p.Leu102=) n.405G= | |
| X | g.21845252G>T | CA412561876 | MBTPS2 | c.306G>T (p.Leu102Phe) n.405G>T | |
| X | g.21845253G>A | CA10367327 | MBTPS2 | c.307G>A (p.Ala103Thr) n.406G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.21845253G>C | CA412561877 | MBTPS2 | c.307G>C (p.Ala103Pro) n.406G>C | gnomAD v4 |
| X | g.21845253G= | CA2419080839 | MBTPS2 | c.307G= (p.Ala103=) n.406G= | |
| X | g.21845253G>T | CA412561878 | MBTPS2 | c.307G>T (p.Ala103Ser) n.406G>T | |
| X | g.21845254C>A | CA412561879 | MBTPS2 | c.308C>A (p.Ala103Glu) n.407C>A | |
| X | g.21845254C>G | CA412561880 | MBTPS2 | c.308C>G (p.Ala103Gly) n.407C>G | |
| X | g.21845254C>T | CA412561881 | MBTPS2 | c.308C>T (p.Ala103Val) n.407C>T | |
| X | g.21845255A>C | CA515419344 | MBTPS2 | c.309A>C (p.Ala103=) n.408A>C | |
| X | g.21845255A>G | CA515419345 | MBTPS2 | c.309A>G (p.Ala103=) n.408A>G | |
| X | g.21845255A>T | CA515419346 | MBTPS2 | c.309A>T (p.Ala103=) n.408A>T | |
| X | g.21845256C>A | CA412561883 | MBTPS2 | c.310C>A (p.Gln104Lys) n.409C>A | |
| X | g.21845256C>G | CA412561884 | MBTPS2 | c.310C>G (p.Gln104Glu) n.409C>G | |
| X | g.21845256C>T | CA412561882 | MBTPS2 | c.310C>T (p.Gln104Ter) n.409C>T | |
| X | g.21845257A>C | CA412561885 | MBTPS2 | c.311A>C (p.Gln104Pro) n.410A>C | |
| X | g.21845257A>G | CA412561886 | MBTPS2 | c.311A>G (p.Gln104Arg) n.410A>G | |
| X | g.21845257A>T | CA412561887 | MBTPS2 | c.311A>T (p.Gln104Leu) n.410A>T | |
| X | g.21845258A>C | CA412561888 | MBTPS2 | c.312A>C (p.Gln104His) n.411A>C | |
| X | g.21845258A>G | CA515419353 | MBTPS2 | c.312A>G (p.Gln104=) n.411A>G | |
| X | g.21845258A>T | CA412561889 | MBTPS2 | c.312A>T (p.Gln104His) n.411A>T | |
| X | g.21845259A>C | CA412561892 | MBTPS2 | c.313A>C (p.Met105Leu) n.412A>C | |
| X | g.21845259A>G | CA412561890 | MBTPS2 | c.313A>G (p.Met105Val) n.412A>G | |
| X | g.21845259A>T | CA412561891 | MBTPS2 | c.313A>T (p.Met105Leu) n.412A>T | |
| X | g.21845260T>A | CA412561893 | MBTPS2 | c.314T>A (p.Met105Lys) n.413T>A | |
| X | g.21845260T>C | CA412561894 | MBTPS2 | c.314T>C (p.Met105Thr) n.413T>C | |
| X | g.21845260T>G | CA412561895 | MBTPS2 | c.314T>G (p.Met105Arg) n.413T>G | |
| X | g.21845261G>A | CA412561896 | MBTPS2 | c.315G>A (p.Met105Ile) n.414G>A | |
| X | g.21845261G>C | CA412561897 | MBTPS2 | c.315G>C (p.Met105Ile) n.414G>C | |
| X | g.21845261G>T | CA412561898 | MBTPS2 | c.315G>T (p.Met105Ile) n.414G>T | |
| X | g.21845262A>C | CA412561900 | MBTPS2 | c.316A>C (p.Met106Leu) n.415A>C | gnomAD v4 |
| X | g.21845262A>G | CA412561901 | MBTPS2 | c.316A>G (p.Met106Val) n.415A>G | ClinVar |
| X | g.21845262A>T | CA412561899 | MBTPS2 | c.316A>T (p.Met106Leu) n.415A>T | |
| X | g.21845263T>A | CA412561902 | MBTPS2 | c.317T>A (p.Met106Lys) n.416T>A | |
| X | g.21845263T>C | CA412561904 | MBTPS2 | c.317T>C (p.Met106Thr) n.416T>C | |
| X | g.21845263T>G | CA412561903 | MBTPS2 | c.317T>G (p.Met106Arg) n.416T>G | |
| X | g.21845264G>A | CA412561905 | MBTPS2 | c.318G>A (p.Met106Ile) n.417G>A | |
| X | g.21845264G>C | CA412561906 | MBTPS2 | c.318G>C (p.Met106Ile) n.417G>C | |
| X | g.21845264G>T | CA412561907 | MBTPS2 | c.318G>T (p.Met106Ile) n.417G>T | |
| X | g.21845265G>A | CA412561908 | MBTPS2 | c.319G>A (p.Ala107Thr) n.418G>A | |
| X | g.21845265G>C | CA412561909 | MBTPS2 | c.319G>C (p.Ala107Pro) n.418G>C | |
| X | g.21845265G>T | CA412561910 | MBTPS2 | c.319G>T (p.Ala107Ser) n.418G>T | |
| X | g.21845266C>A | CA412561911 | MBTPS2 | c.320C>A (p.Ala107Asp) n.419C>A | |
| X | g.21845266C>G | CA412561912 | MBTPS2 | c.320C>G (p.Ala107Gly) n.419C>G | |
| X | g.21845266C>T | CA412561913 | MBTPS2 | c.320C>T (p.Ala107Val) n.419C>T | |
| X | g.21845267T>A | CA515419360 | MBTPS2 | c.321T>A (p.Ala107=) n.420T>A | |
| X | g.21845267T>C | CA515419362 | MBTPS2 | c.321T>C (p.Ala107=) n.420T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.21845267T>G | CA515419363 | MBTPS2 | c.321T>G (p.Ala107=) n.420T>G | dbSNP gnomAD v4 |
| X | g.21845267T= | CA2419080840 | MBTPS2 | c.321T= (p.Ala107=) n.420T= | |
| X | g.21845268G>A | CA412561914 | MBTPS2 | c.322G>A (p.Asp108Asn) n.421G>A | |
| X | g.21845268G>C | CA412561915 | MBTPS2 | c.322G>C (p.Asp108His) n.421G>C | gnomAD v4 |
| X | g.21845268G>T | CA412561916 | MBTPS2 | c.322G>T (p.Asp108Tyr) n.421G>T | |
| X | g.21845269A>C | CA412561917 | MBTPS2 | c.323A>C (p.Asp108Ala) n.422A>C | |
| X | g.21845269A>G | CA412561919 | MBTPS2 | c.323A>G (p.Asp108Gly) n.422A>G | gnomAD v4 |
| X | g.21845269A>T | CA412561918 | MBTPS2 | c.323A>T (p.Asp108Val) n.422A>T | gnomAD v4 |
| X | g.21845270C>A | CA412561920 | MBTPS2 | c.324C>A (p.Asp108Glu) n.423C>A | |
| X | g.21845270C>G | CA412561921 | MBTPS2 | c.324C>G (p.Asp108Glu) n.423C>G | gnomAD v4 |
| X | g.21845270C>T | CA515419364 | MBTPS2 | c.324C>T (p.Asp108=) n.423C>T | |
| X | g.21845270_21845271delinsCT | CA2419080841 | MBTPS2 | c.324_325delinsCT (p.Asp108=) n.423_424delinsCT | |
| X | g.21845273_21845274del | CA2693295761 | MBTPS2 | c.327_328del (p.Pro110LeufsTer?) n.426_427del | gnomAD v4 |
| X | g.21845274_21845279del | CA2693295762 | MBTPS2 | c.328_333del (p.Pro110_Ser111del) n.427_432del | gnomAD v4 |
| X | g.21845271del | CA10367328 | MBTPS2 | c.325del (p.Ser109LeufsTer?) n.424del | dbSNP ExAC gnomAD v2 |
| X | g.21845271T>A | CA412561922 | MBTPS2 | c.325T>A (p.Ser109Thr) n.424T>A | |
| X | g.21845271T>C | CA412561923 | MBTPS2 | c.325T>C (p.Ser109Pro) n.424T>C | |
| X | g.21845271T>G | CA412561924 | MBTPS2 | c.325T>G (p.Ser109Ala) n.424T>G | |
| X | g.21845272C>A | CA412561925 | MBTPS2 | c.326C>A (p.Ser109Tyr) n.425C>A | |
| X | g.21845272C= | CA2419080842 | MBTPS2 | c.326C= (p.Ser109=) n.425C= | |
| X | g.21845272C>G | CA412561926 | MBTPS2 | c.326C>G (p.Ser109Cys) n.425C>G | |
| X | g.21845272C>T | CA412561927 | MBTPS2 | c.326C>T (p.Ser109Phe) n.425C>T | dbSNP |
| X | g.21845273T>A | CA515419368 | MBTPS2 | c.327T>A (p.Ser109=) n.426T>A | |
| X | g.21845273T>C | CA10367329 | MBTPS2 | c.327T>C (p.Ser109=) n.426T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.21845273T>G | CA515419369 | MBTPS2 | c.327T>G (p.Ser109=) n.426T>G | dbSNP |
| X | g.21845273T= | CA2419080843 | MBTPS2 | c.327T= (p.Ser109=) n.426T= | |
| X | g.21845274C>A | CA412561929 | MBTPS2 | c.328C>A (p.Pro110Thr) n.427C>A | |
| X | g.21845274C>G | CA412561930 | MBTPS2 | c.328C>G (p.Pro110Ala) n.427C>G | |
| X | g.21845274C>T | CA412561928 | MBTPS2 | c.328C>T (p.Pro110Ser) n.427C>T | |
| X | g.21845274_21845292delinsCCCTCTTCTTATTCTTCCT | CA2419080844 | MBTPS2 | c.328_346delinsCCCTCTTCTTATTCTTCCT (p.Pro110=) n.427_445delinsCCCTCTTCTTATTCTTCCT | |
| X | g.21845275C>A | CA412561931 | MBTPS2 | c.329C>A (p.Pro110His) n.428C>A | |
| X | g.21845275C>G | CA412561932 | MBTPS2 | c.329C>G (p.Pro110Arg) n.428C>G | |
| X | g.21845275C>T | CA412561933 | MBTPS2 | c.329C>T (p.Pro110Leu) n.428C>T | |
| X | g.21845284_21845301del | CA2419080845 | MBTPS2 | c.338_355del (p.Tyr113_Ser118del) n.437_454del | dbSNP |
| X | g.21845276C>A | CA515419371 | MBTPS2 | c.330C>A (p.Pro110=) n.429C>A | |
| X | g.21845276C>G | CA515419372 | MBTPS2 | c.330C>G (p.Pro110=) n.429C>G | |
| X | g.21845276C>T | CA515419373 | MBTPS2 | c.330C>T (p.Pro110=) n.429C>T | |
| X | g.21845277T>A | CA412561934 | MBTPS2 | c.331T>A (p.Ser111Thr) n.430T>A | |
| X | g.21845277T>C | CA412561935 | MBTPS2 | c.331T>C (p.Ser111Pro) n.430T>C | |
| X | g.21845277T>G | CA412561936 | MBTPS2 | c.331T>G (p.Ser111Ala) n.430T>G | |
| X | g.21845281_21845283del | CA2693295763 | MBTPS2 | c.335_337del (p.Ser112del) n.434_436del | gnomAD v4 |
| X | g.21845278C>A | CA412561937 | MBTPS2 | c.332C>A (p.Ser111Tyr) n.431C>A | |
| X | g.21845278C= | CA2419080846 | MBTPS2 | c.332C= (p.Ser111=) n.431C= | |
| X | g.21845278C>G | CA412561938 | MBTPS2 | c.332C>G (p.Ser111Cys) n.431C>G | |
| X | g.21845278C>T | CA10367330 | MBTPS2 | c.332C>T (p.Ser111Phe) n.431C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.21845279T>A | CA515419377 | MBTPS2 | c.333T>A (p.Ser111=) n.432T>A | gnomAD v4 |
| X | g.21845279T>C | CA515419376 | MBTPS2 | c.333T>C (p.Ser111=) n.432T>C | |
| X | g.21845279T>G | CA515419375 | MBTPS2 | c.333T>G (p.Ser111=) n.432T>G | |
| X | g.21845280T>A | CA412561939 | MBTPS2 | c.334T>A (p.Ser112Thr) n.433T>A | |
| X | g.21845280T>C | CA412561940 | MBTPS2 | c.334T>C (p.Ser112Pro) n.433T>C | |
| X | g.21845280T>G | CA412561941 | MBTPS2 | c.334T>G (p.Ser112Ala) n.433T>G | |
| X | g.21845281C>A | CA412561943 | MBTPS2 | c.335C>A (p.Ser112Tyr) n.434C>A | |
| X | g.21845281C>G | CA412561944 | MBTPS2 | c.335C>G (p.Ser112Cys) n.434C>G | |
| X | g.21845281C>T | CA412561942 | MBTPS2 | c.335C>T (p.Ser112Phe) n.434C>T | COSMIC |
| X | g.21845282T>A | CA515419380 | MBTPS2 | c.336T>A (p.Ser112=) n.435T>A | |
| X | g.21845282T>C | CA515419381 | MBTPS2 | c.336T>C (p.Ser112=) n.435T>C | |
| X | g.21845282T>G | CA515419382 | MBTPS2 | c.336T>G (p.Ser112=) n.435T>G | |
| X | g.21845283T>A | CA412561945 | MBTPS2 | c.337T>A (p.Tyr113Asn) n.436T>A | |
| X | g.21845283T>C | CA412561946 | MBTPS2 | c.337T>C (p.Tyr113His) n.436T>C | |
| X | g.21845283T>G | CA412561947 | MBTPS2 | c.337T>G (p.Tyr113Asp) n.436T>G | |
| X | g.21845284A= | CA2419080847 | MBTPS2 | c.338A= (p.Tyr113=) n.437A= | |
| X | g.21845284A>C | CA10367331 | MBTPS2 | c.338A>C (p.Tyr113Ser) n.437A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.21845284A>G | CA412561948 | MBTPS2 | c.338A>G (p.Tyr113Cys) n.437A>G | |
| X | g.21845284A>T | CA412561949 | MBTPS2 | c.338A>T (p.Tyr113Phe) n.437A>T | |
| X | g.21845285T>A | CA412561951 | MBTPS2 | c.339T>A (p.Tyr113Ter) n.438T>A | |
| X | g.21845285T>C | CA10367334 | MBTPS2 | c.339T>C (p.Tyr113=) n.438T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.21845285T>G | CA412561950 | MBTPS2 | c.339T>G (p.Tyr113Ter) n.438T>G | |
| X | g.21845285T= | CA2419080848 | MBTPS2 | c.339T= (p.Tyr113=) n.438T= | |
| X | g.21845285_21845303delinsTTCTTCCTCCTCTTCTTCC | CA2419080849 | MBTPS2 | c.339_357delinsTTCTTCCTCCTCTTCTTCC (p.Tyr113=) n.438_456delinsTTCTTCCTCCTCTTCTTCC | |
| X | g.21845286T>A | CA412561952 | MBTPS2 | c.340T>A (p.Ser114Thr) n.439T>A | |
| X | g.21845286T>C | CA412561953 | MBTPS2 | c.340T>C (p.Ser114Pro) n.439T>C | |
| X | g.21845286T>G | CA412561954 | MBTPS2 | c.340T>G (p.Ser114Ala) n.439T>G | |
| X | g.21845312_21845329dup | CA10367333 | MBTPS2 | c.366_383dup (p.Ser128_Ser129insSerSerSerSerSerSer) n.465_482dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.21845312_21845329del | CA10367332 | MBTPS2 | c.366_383del (p.Ser123_Ser128del) n.465_482del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.21845287C>A | CA412561955 | MBTPS2 | c.341C>A (p.Ser114Tyr) n.440C>A | |
| X | g.21845287C>G | CA412561957 | MBTPS2 | c.341C>G (p.Ser114Cys) n.440C>G | |
| X | g.21845287C>T | CA412561956 | MBTPS2 | c.341C>T (p.Ser114Phe) n.440C>T | gnomAD v4 |
| X | g.21845288T>A | CA515419389 | MBTPS2 | c.342T>A (p.Ser114=) n.441T>A | |
| X | g.21845288T>C | CA515419390 | MBTPS2 | c.342T>C (p.Ser114=) n.441T>C | |
| X | g.21845288T>G | CA515419391 | MBTPS2 | c.342T>G (p.Ser114=) n.441T>G | |
| X | g.21845289T>A | CA412561958 | MBTPS2 | c.343T>A (p.Ser115Thr) n.442T>A | |
| X | g.21845289T>C | CA412561960 | MBTPS2 | c.343T>C (p.Ser115Pro) n.442T>C | |
| X | g.21845289T>G | CA412561959 | MBTPS2 | c.343T>G (p.Ser115Ala) n.442T>G | |
| X | g.21845290C>A | CA412561961 | MBTPS2 | c.344C>A (p.Ser115Tyr) n.443C>A | |
| X | g.21845290C>G | CA412561962 | MBTPS2 | c.344C>G (p.Ser115Cys) n.443C>G | |
| X | g.21845290C>T | CA412561963 | MBTPS2 | c.344C>T (p.Ser115Phe) n.443C>T | |
| X | g.21845291C>A | CA515419393 | MBTPS2 | c.345C>A (p.Ser115=) n.444C>A | |
| X | g.21845291C>G | CA515419394 | MBTPS2 | c.345C>G (p.Ser115=) n.444C>G | |
| X | g.21845291C>T | CA515419395 | MBTPS2 | c.345C>T (p.Ser115=) n.444C>T | |
| X | g.21845292T>A | CA412561964 | MBTPS2 | c.346T>A (p.Ser116Thr) n.445T>A | |
| X | g.21845292T>C | CA412561965 | MBTPS2 | c.346T>C (p.Ser116Pro) n.445T>C | gnomAD v4 |
| X | g.21845292T>G | CA412561966 | MBTPS2 | c.346T>G (p.Ser116Ala) n.445T>G | |
| X | g.21845293C>A | CA412561967 | MBTPS2 | c.347C>A (p.Ser116Tyr) n.446C>A | |
| X | g.21845293C= | CA2419080850 | MBTPS2 | c.347C= (p.Ser116=) n.446C= | |
| X | g.21845293C>G | CA412561968 | MBTPS2 | c.347C>G (p.Ser116Cys) n.446C>G | |
| X | g.21845293C>T | CA412561969 | MBTPS2 | c.347C>T (p.Ser116Phe) n.446C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.21845294C>A | CA515419397 | MBTPS2 | c.348C>A (p.Ser116=) n.447C>A | COSMIC |
| X | g.21845294C= | CA2419080851 | MBTPS2 | c.348C= (p.Ser116=) n.447C= | |
| X | g.21845294C>G | CA515419398 | MBTPS2 | c.348C>G (p.Ser116=) n.447C>G | |
| X | g.21845294C>T | CA10367335 | MBTPS2 | c.348C>T (p.Ser116=) n.447C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.21845295T>A | CA412561970 | MBTPS2 | c.349T>A (p.Ser117Thr) n.448T>A | |
| X | g.21845295T>C | CA412561971 | MBTPS2 | c.349T>C (p.Ser117Pro) n.448T>C | |
| X | g.21845295T>G | CA412561972 | MBTPS2 | c.349T>G (p.Ser117Ala) n.448T>G | |
| X | g.21845300_21845302del | CA2693295764 | MBTPS2 | c.354_356del (p.Ser119del) n.453_455del | gnomAD v4 |