| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.21845139T>C | CA873901908 | MBTPS2 | c.225-32T>C (n.225-32T>C) n.324-32T>C | dbSNP |
| X | g.21845139T= | CA2419080809 | MBTPS2 | c.225-32T= (n.225-32T=) n.324-32T= | |
| X | g.21845146A>T | CA2693295754 | MBTPS2 | c.225-25A>T (n.225-25A>T) n.324-25A>T | gnomAD v4 |
| X | g.21845148A= | CA2419080810 | MBTPS2 | c.225-23A= (n.225-23A=) n.324-23A= | |
| X | g.21845148A>G | CA10367317 | MBTPS2 | c.225-23A>G (n.225-23A>G) n.324-23A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.21845150_21845152del | CA2693295755 | MBTPS2 | c.225-21_225-19del (n.225-21_225-19del) n.324-21_324-19del | gnomAD v4 |
| X | g.21845149T>C | CA2419080811 | MBTPS2 | c.225-22T>C (n.225-22T>C) n.324-22T>C | dbSNP gnomAD v4 |
| X | g.21845149T>G | CA2693295756 | MBTPS2 | c.225-22T>G (n.225-22T>G) n.324-22T>G | gnomAD v4 |
| X | g.21845149T= | CA2419080812 | MBTPS2 | c.225-22T= (n.225-22T=) n.324-22T= | |
| X | g.21845150del | CA2693295757 | MBTPS2 | c.225-21del (n.225-21del) n.324-21del | gnomAD v4 |
| X | g.21845150G>A | CA10367318 | MBTPS2 | c.225-21G>A (n.225-21G>A) n.324-21G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.21845150G>C | CA327502251 | MBTPS2 | c.225-21G>C (n.225-21G>C) n.324-21G>C | dbSNP gnomAD v3 gnomAD v4 |
| X | g.21845150G= | CA2419080813 | MBTPS2 | c.225-21G= (n.225-21G=) n.324-21G= | |
| X | g.21845150G>T | CA2579570799 | MBTPS2 | c.225-21G>T (n.225-21G>T) n.324-21G>T | gnomAD v4 |
| X | g.21845150_21845151insGTATAATTTAATAAT | CA2820008954 | MBTPS2 | c.225-21_225-20insGTATAATTTAATAAT (n.225-21_225-20insGTATAATTTAATAAT) n.324-21_324-20insGTATAATTTAATAAT | |
| X | g.21845151A= | CA2419080814 | MBTPS2 | c.225-20A= (n.225-20A=) n.324-20A= | |
| X | g.21845151A>T | CA2693295758 | MBTPS2 | c.225-20A>T (n.225-20A>T) n.324-20A>T | gnomAD v4 |
| X | g.21845158dup | CA873901911 | MBTPS2 | c.225-13dup (n.225-13dup) n.324-13dup | dbSNP gnomAD v4 |
| X | g.21845156T>A | CA2693295759 | MBTPS2 | c.225-15T>A (n.225-15T>A) n.324-15T>A | gnomAD v4 |
| X | g.21845157T>C | CA873901916 | MBTPS2 | c.225-14T>C (n.225-14T>C) n.324-14T>C | dbSNP |
| X | g.21845157T= | CA2419080815 | MBTPS2 | c.225-14T= (n.225-14T=) n.324-14T= | |
| X | g.21845158T>C | CA657748677 | MBTPS2 | c.225-13T>C (n.225-13T>C) n.324-13T>C | COSMIC |
| X | g.21845159C>G | CA2693295760 | MBTPS2 | c.225-12C>G (n.225-12C>G) n.324-12C>G | gnomAD v4 |
| X | g.21845159C>T | CA2820008956 | MBTPS2 | c.225-12C>T (n.225-12C>T) n.324-12C>T | |
| X | g.21845160C= | CA2419080816 | MBTPS2 | c.225-11C= (n.225-11C=) n.324-11C= | |
| X | g.21845160C>G | CA873901918 | MBTPS2 | c.225-11C>G (n.225-11C>G) n.324-11C>G | dbSNP gnomAD v3 gnomAD v4 |
| X | g.21845160C>T | CA2820008957 | MBTPS2 | c.225-11C>T (n.225-11C>T) n.324-11C>T | |
| X | g.21845161C>T | CA2820008958 | MBTPS2 | c.225-10C>T (n.225-10C>T) n.324-10C>T | |
| X | g.21845165T>A | CA2695231722 | MBTPS2 | c.225-6T>A (n.225-6T>A) n.324-6T>A | |
| X | g.21845165T>C | CA10367319 | MBTPS2 | c.225-6T>C (n.225-6T>C) n.324-6T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.21845165T= | CA2419080817 | MBTPS2 | c.225-6T= (n.225-6T=) n.324-6T= | |
| X | g.21845166G>A | CA2579570800 | MBTPS2 | c.225-5G>A (n.225-5G>A) n.324-5G>A | gnomAD v4 |
| X | g.21845166G>C | CA16621884 | MBTPS2 | c.225-5G>C (n.225-5G>C) n.324-5G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.21845166G= | CA2419080818 | MBTPS2 | c.225-5G= (n.225-5G=) n.324-5G= | |
| X | g.21845166G>T | CA2820008961 | MBTPS2 | c.225-5G>T (n.225-5G>T) n.324-5G>T | |
| X | g.21845167A>T | CA2820008963 | MBTPS2 | c.225-4A>T (n.225-4A>T) n.324-4A>T | |
| X | g.21845169A>C | CA412561684 | MBTPS2 | c.225-2A>C (n.225-2A>C) n.324-2A>C | |
| X | g.21845169A>G | CA412561685 | MBTPS2 | c.225-2A>G (n.225-2A>G) n.324-2A>G | |
| X | g.21845169A>T | CA412561686 | MBTPS2 | c.225-2A>T (n.225-2A>T) n.324-2A>T | |
| X | g.21845170G>A | CA412561687 | MBTPS2 | c.225-1G>A (n.225-1G>A) n.324-1G>A | |
| X | g.21845170G>C | CA412561688 | MBTPS2 | c.225-1G>C (n.225-1G>C) n.324-1G>C | |
| X | g.21845170G>T | CA412561689 | MBTPS2 | c.225-1G>T (n.225-1G>T) n.324-1G>T | |
| X | g.21845171G>A | CA412561691 | MBTPS2 | c.225G>A (p.Trp75Ter) n.324G>A | |
| X | g.21845171G>C | CA412561690 | MBTPS2 | c.225G>C (p.Trp75Cys) n.324G>C | |
| X | g.21845171G= | CA2419080819 | MBTPS2 | c.225G= (p.Trp75=) n.324G= | |
| X | g.21845171G>T | CA327502252 | MBTPS2 | c.225G>T (p.Trp75Cys) n.324G>T | dbSNP |
| X | g.21845172T>A | CA412561692 | MBTPS2 | c.226T>A (p.Phe76Ile) n.325T>A | |
| X | g.21845172T>C | CA412561693 | MBTPS2 | c.226T>C (p.Phe76Leu) n.325T>C | |
| X | g.21845172T>G | CA412561694 | MBTPS2 | c.226T>G (p.Phe76Val) n.325T>G | |
| X | g.21845173T>A | CA412561695 | MBTPS2 | c.227T>A (p.Phe76Tyr) n.326T>A | |
| X | g.21845173T>C | CA412561696 | MBTPS2 | c.227T>C (p.Phe76Ser) n.326T>C | |
| X | g.21845173T>G | CA412561697 | MBTPS2 | c.227T>G (p.Phe76Cys) n.326T>G | |
| X | g.21845174C>A | CA412561698 | MBTPS2 | c.228C>A (p.Phe76Leu) n.327C>A | |
| X | g.21845174C>G | CA412561699 | MBTPS2 | c.228C>G (p.Phe76Leu) n.327C>G | |
| X | g.21845174C>T | CA515419218 | MBTPS2 | c.228C>T (p.Phe76=) n.327C>T | |
| X | g.21845175A>C | CA412561700 | MBTPS2 | c.229A>C (p.Asn77His) n.328A>C | |
| X | g.21845175A>G | CA412561701 | MBTPS2 | c.229A>G (p.Asn77Asp) n.328A>G | |
| X | g.21845175A>T | CA412561702 | MBTPS2 | c.229A>T (p.Asn77Tyr) n.328A>T | |
| X | g.21845176A>C | CA412561703 | MBTPS2 | c.230A>C (p.Asn77Thr) n.329A>C | |
| X | g.21845176A>G | CA412561704 | MBTPS2 | c.230A>G (p.Asn77Ser) n.329A>G | |
| X | g.21845176A>T | CA412561705 | MBTPS2 | c.230A>T (p.Asn77Ile) n.329A>T | |
| X | g.21845177T>A | CA412561706 | MBTPS2 | c.231T>A (p.Asn77Lys) n.330T>A | |
| X | g.21845177T>C | CA515419220 | MBTPS2 | c.231T>C (p.Asn77=) n.330T>C | |
| X | g.21845177T>G | CA412561707 | MBTPS2 | c.231T>G (p.Asn77Lys) n.330T>G | |
| X | g.21845178T>A | CA412561708 | MBTPS2 | c.232T>A (p.Phe78Ile) n.331T>A | |
| X | g.21845178T>C | CA412561709 | MBTPS2 | c.232T>C (p.Phe78Leu) n.331T>C | |
| X | g.21845178T>G | CA412561710 | MBTPS2 | c.232T>G (p.Phe78Val) n.331T>G | |
| X | g.21845179T>A | CA412561711 | MBTPS2 | c.233T>A (p.Phe78Tyr) n.332T>A | |
| X | g.21845179T>C | CA412561712 | MBTPS2 | c.233T>C (p.Phe78Ser) n.332T>C | |
| X | g.21845179T>G | CA412561713 | MBTPS2 | c.233T>G (p.Phe78Cys) n.332T>G | |
| X | g.21845180T>A | CA412561714 | MBTPS2 | c.234T>A (p.Phe78Leu) n.333T>A | |
| X | g.21845180T>C | CA515419221 | MBTPS2 | c.234T>C (p.Phe78=) n.333T>C | |
| X | g.21845180T>G | CA412561715 | MBTPS2 | c.234T>G (p.Phe78Leu) n.333T>G | |
| X | g.21845181G>A | CA412561716 | MBTPS2 | c.235G>A (p.Gly79Arg) n.334G>A | |
| X | g.21845181G>C | CA412561717 | MBTPS2 | c.235G>C (p.Gly79Arg) n.334G>C | |
| X | g.21845181G>T | CA412561718 | MBTPS2 | c.235G>T (p.Gly79Ter) n.334G>T | |
| X | g.21845182G>A | CA412561721 | MBTPS2 | c.236G>A (p.Gly79Glu) n.335G>A | |
| X | g.21845182G>C | CA412561720 | MBTPS2 | c.236G>C (p.Gly79Ala) n.335G>C | |
| X | g.21845182G>T | CA412561719 | MBTPS2 | c.236G>T (p.Gly79Val) n.335G>T | |
| X | g.21845183A>C | CA515419222 | MBTPS2 | c.237A>C (p.Gly79=) n.336A>C | |
| X | g.21845183A>G | CA515419223 | MBTPS2 | c.237A>G (p.Gly79=) n.336A>G | |
| X | g.21845183A>T | CA515419224 | MBTPS2 | c.237A>T (p.Gly79=) n.336A>T | |
| X | g.21845184A>C | CA412561722 | MBTPS2 | c.238A>C (p.Met80Leu) n.337A>C | |
| X | g.21845184A>G | CA412561723 | MBTPS2 | c.238A>G (p.Met80Val) n.337A>G | |
| X | g.21845184A>T | CA412561724 | MBTPS2 | c.238A>T (p.Met80Leu) n.337A>T | |
| X | g.21845185T>A | CA412561725 | MBTPS2 | c.239T>A (p.Met80Lys) n.338T>A | |
| X | g.21845185T>C | CA412561726 | MBTPS2 | c.239T>C (p.Met80Thr) n.338T>C | gnomAD v4 |
| X | g.21845185T>G | CA412561727 | MBTPS2 | c.239T>G (p.Met80Arg) n.338T>G | |
| X | g.21845186G>A | CA412561730 | MBTPS2 | c.240G>A (p.Met80Ile) n.339G>A | gnomAD v4 |
| X | g.21845186G>C | CA412561729 | MBTPS2 | c.240G>C (p.Met80Ile) n.339G>C | |
| X | g.21845186G>T | CA412561728 | MBTPS2 | c.240G>T (p.Met80Ile) n.339G>T | |
| X | g.21845187G>A | CA412561731 | MBTPS2 | c.241G>A (p.Val81Met) n.340G>A | |
| X | g.21845187G>C | CA412561732 | MBTPS2 | c.241G>C (p.Val81Leu) n.340G>C | |
| X | g.21845187G>T | CA412561733 | MBTPS2 | c.241G>T (p.Val81Leu) n.340G>T | |
| X | g.21845188T>A | CA412561734 | MBTPS2 | c.242T>A (p.Val81Glu) n.341T>A | |
| X | g.21845188T>C | CA412561735 | MBTPS2 | c.242T>C (p.Val81Ala) n.341T>C | gnomAD v4 |
| X | g.21845188T>G | CA412561736 | MBTPS2 | c.242T>G (p.Val81Gly) n.341T>G | |
| X | g.21845189G>A | CA515419227 | MBTPS2 | c.243G>A (p.Val81=) n.342G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.21845189G>C | CA515419228 | MBTPS2 | c.243G>C (p.Val81=) n.342G>C | |
| X | g.21845189G= | CA2419080820 | MBTPS2 | c.243G= (p.Val81=) n.342G= | |
| X | g.21845189G>T | CA515419229 | MBTPS2 | c.243G>T (p.Val81=) n.342G>T | |
| X | g.21845190T>A | CA412561737 | MBTPS2 | c.244T>A (p.Phe82Ile) n.343T>A | |
| X | g.21845190T>C | CA412561739 | MBTPS2 | c.244T>C (p.Phe82Leu) n.343T>C | |
| X | g.21845190T>G | CA412561738 | MBTPS2 | c.244T>G (p.Phe82Val) n.343T>G | |
| X | g.21845191T>A | CA412561740 | MBTPS2 | c.245T>A (p.Phe82Tyr) n.344T>A | |
| X | g.21845191T>C | CA412561741 | MBTPS2 | c.245T>C (p.Phe82Ser) n.344T>C | ClinVar |
| X | g.21845191T>G | CA412561742 | MBTPS2 | c.245T>G (p.Phe82Cys) n.344T>G | |
| X | g.21845192T>A | CA412561743 | MBTPS2 | c.246T>A (p.Phe82Leu) n.345T>A | |
| X | g.21845192T>C | CA515419230 | MBTPS2 | c.246T>C (p.Phe82=) n.345T>C | |
| X | g.21845192T>G | CA412561744 | MBTPS2 | c.246T>G (p.Phe82Leu) n.345T>G | |
| X | g.21845193G>A | CA412561745 | MBTPS2 | c.247G>A (p.Gly83Ser) n.346G>A | |
| X | g.21845193G>C | CA412561746 | MBTPS2 | c.247G>C (p.Gly83Arg) n.346G>C | |
| X | g.21845193G>T | CA412561747 | MBTPS2 | c.247G>T (p.Gly83Cys) n.346G>T | |
| X | g.21845194G>A | CA412561748 | MBTPS2 | c.248G>A (p.Gly83Asp) n.347G>A | |
| X | g.21845194G>C | CA412561749 | MBTPS2 | c.248G>C (p.Gly83Ala) n.347G>C | |
| X | g.21845194G>T | CA412561750 | MBTPS2 | c.248G>T (p.Gly83Val) n.347G>T | COSMIC COSMIC |
| 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 |