Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.2496732A>C | CA394376670 | TBC1D24 | c.584A>C (p.His195Pro) n.766A>C | |
16 | g.2496732A>G | CA394376671 | TBC1D24 | c.584A>G (p.His195Arg) n.766A>G | |
16 | g.2496732A>T | CA394376672 | TBC1D24 | c.584A>T (p.His195Leu) n.766A>T | |
16 | g.2496733C>A | CA394376675 | TBC1D24 | c.585C>A (p.His195Gln) n.767C>A | |
16 | g.2496733C>G | CA394376677 | TBC1D24 | c.585C>G (p.His195Gln) n.767C>G | ClinVar |
16 | g.2496733C>T | CA493367036 | TBC1D24 | c.585C>T (p.His195=) n.767C>T | |
16 | g.2496734A>C | CA394376679 | TBC1D24 | c.586A>C (p.Lys196Gln) n.768A>C | |
16 | g.2496734A>G | CA394376681 | TBC1D24 | c.586A>G (p.Lys196Glu) n.768A>G | |
16 | g.2496734A>T | CA394376683 | TBC1D24 | c.586A>T (p.Lys196Ter) n.768A>T | |
16 | g.2496735A= | CA2202259960 | TBC1D24 | c.587A= (p.Lys196=) n.769A= | |
16 | g.2496735A>C | CA394376685 | TBC1D24 | c.587A>C (p.Lys196Thr) n.769A>C | |
16 | g.2496735A>G | CA7844025 | TBC1D24 | c.587A>G (p.Lys196Arg) n.769A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496735A>T | CA394376688 | TBC1D24 | c.587A>T (p.Lys196Met) n.769A>T | |
16 | g.2496736G>A | CA493367039 | TBC1D24 | c.588G>A (p.Lys196=) n.770G>A | gnomAD v4 |
16 | g.2496736G>C | CA394376693 | TBC1D24 | c.588G>C (p.Lys196Asn) n.770G>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496736G= | CA2202259961 | TBC1D24 | c.588G= (p.Lys196=) n.770G= | |
16 | g.2496736G>T | CA394376691 | TBC1D24 | c.588G>T (p.Lys196Asn) n.770G>T | |
16 | g.2496737C>A | CA394376696 | TBC1D24 | c.589C>A (p.Leu197Met) n.771C>A | gnomAD v4 |
16 | g.2496737C>G | CA394376698 | TBC1D24 | c.589C>G (p.Leu197Val) n.771C>G | |
16 | g.2496737C>T | CA493367040 | TBC1D24 | c.589C>T (p.Leu197=) n.771C>T | |
16 | g.2496738T>A | CA394376700 | TBC1D24 | c.590T>A (p.Leu197Gln) n.772T>A | |
16 | g.2496738T>C | CA394376703 | TBC1D24 | c.590T>C (p.Leu197Pro) n.772T>C | |
16 | g.2496738T>G | CA394376704 | TBC1D24 | c.590T>G (p.Leu197Arg) n.772T>G | |
16 | g.2496739G>A | CA493367044 | TBC1D24 | c.591G>A (p.Leu197=) n.773G>A | |
16 | g.2496739G>C | CA493367045 | TBC1D24 | c.591G>C (p.Leu197=) n.773G>C | |
16 | g.2496739G>T | CA493367046 | TBC1D24 | c.591G>T (p.Leu197=) n.773G>T | |
16 | g.2496740A= | CA2202259962 | TBC1D24 | c.592A= (p.Met198=) n.774A= | |
16 | g.2496740A>C | CA394376706 | TBC1D24 | c.592A>C (p.Met198Leu) n.774A>C | |
16 | g.2496740A>G | CA394376705 | TBC1D24 | c.592A>G (p.Met198Val) n.774A>G | |
16 | g.2496740A>T | CA7844026 | TBC1D24 | c.592A>T (p.Met198Leu) n.774A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496741T>A | CA394376707 | TBC1D24 | c.593T>A (p.Met198Lys) n.775T>A | |
16 | g.2496741T>C | CA394376708 | TBC1D24 | c.593T>C (p.Met198Thr) n.775T>C | |
16 | g.2496741T>G | CA394376709 | TBC1D24 | c.593T>G (p.Met198Arg) n.775T>G | gnomAD v4 |
16 | g.2496742G>A | CA394376710 | TBC1D24 | c.594G>A (p.Met198Ile) n.776G>A | |
16 | g.2496742G>C | CA394376711 | TBC1D24 | c.594G>C (p.Met198Ile) n.776G>C | |
16 | g.2496742G>T | CA394376712 | TBC1D24 | c.594G>T (p.Met198Ile) n.776G>T | |
16 | g.2496743G>A | CA394376713 | TBC1D24 | c.595G>A (p.Val199Met) n.777G>A | |
16 | g.2496743G>C | CA394376715 | TBC1D24 | c.595G>C (p.Val199Leu) n.777G>C | |
16 | g.2496743G>T | CA394376714 | TBC1D24 | c.595G>T (p.Val199Leu) n.777G>T | |
16 | g.2496744T>A | CA394376716 | TBC1D24 | c.596T>A (p.Val199Glu) n.778T>A | |
16 | g.2496744T>C | CA394376717 | TBC1D24 | c.596T>C (p.Val199Ala) n.778T>C | ClinVar |
16 | g.2496744T>G | CA394376718 | TBC1D24 | c.596T>G (p.Val199Gly) n.778T>G | |
16 | g.2496745G>A | CA493367052 | TBC1D24 | c.597G>A (p.Val199=) n.779G>A | |
16 | g.2496745G>C | CA493367053 | TBC1D24 | c.597G>C (p.Val199=) n.779G>C | |
16 | g.2496745G>T | CA493367054 | TBC1D24 | c.597G>T (p.Val199=) n.779G>T | |
16 | g.2496746G>A | CA394376719 | TBC1D24 | c.598G>A (p.Ala200Thr) n.780G>A | gnomAD v4 |
16 | g.2496746G>C | CA394376720 | TBC1D24 | c.598G>C (p.Ala200Pro) n.780G>C | |
16 | g.2496746G>T | CA394376721 | TBC1D24 | c.598G>T (p.Ala200Ser) n.780G>T | |
16 | g.2496747C>A | CA394376722 | TBC1D24 | c.599C>A (p.Ala200Asp) n.781C>A | |
16 | g.2496747C= | CA2202259963 | TBC1D24 | c.599C= (p.Ala200=) n.781C= | |
16 | g.2496747C>G | CA394376723 | TBC1D24 | c.599C>G (p.Ala200Gly) n.781C>G | |
16 | g.2496747C>T | CA7844027 | TBC1D24 | c.599C>T (p.Ala200Val) n.781C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.2496748C>A | CA493367057 | TBC1D24 | c.600C>A (p.Ala200=) n.782C>A | |
16 | g.2496748C= | CA2202259964 | TBC1D24 | c.600C= (p.Ala200=) n.782C= | |
16 | g.2496748C>G | CA493367059 | TBC1D24 | c.600C>G (p.Ala200=) n.782C>G | |
16 | g.2496748C>T | CA7844028 | TBC1D24 | c.600C>T (p.Ala200=) n.782C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496749del | CA2631210323 | TBC1D24 | c.601del (p.Val201CysfsTer?) n.783del | gnomAD v4 |
16 | g.2496749G>A | CA7844029 | TBC1D24 | c.601G>A (p.Val201Met) n.783G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.2496749G>C | CA394376724 | TBC1D24 | c.601G>C (p.Val201Leu) n.783G>C | |
16 | g.2496749G= | CA2202259965 | TBC1D24 | c.601G= (p.Val201=) n.783G= | |
16 | g.2496749G>T | CA394376725 | TBC1D24 | c.601G>T (p.Val201Leu) n.783G>T | |
16 | g.2496750T>A | CA394376726 | TBC1D24 | c.602T>A (p.Val201Glu) n.784T>A | |
16 | g.2496750T>C | CA394376728 | TBC1D24 | c.602T>C (p.Val201Ala) n.784T>C | |
16 | g.2496750T>G | CA394376727 | TBC1D24 | c.602T>G (p.Val201Gly) n.784T>G | |
16 | g.2496751G>A | CA493367064 | TBC1D24 | c.603G>A (p.Val201=) n.785G>A | |
16 | g.2496751G>C | CA493367066 | TBC1D24 | c.603G>C (p.Val201=) n.785G>C | |
16 | g.2496751G>T | CA493367065 | TBC1D24 | c.603G>T (p.Val201=) n.785G>T | |
16 | g.2496752T>A | CA394376729 | TBC1D24 | c.604T>A (p.Ser202Thr) n.786T>A | |
16 | g.2496752T>C | CA394376730 | TBC1D24 | c.604T>C (p.Ser202Pro) n.786T>C | |
16 | g.2496752T>G | CA394376731 | TBC1D24 | c.604T>G (p.Ser202Ala) n.786T>G | |
16 | g.2496753C>A | CA394376732 | TBC1D24 | c.605C>A (p.Ser202Ter) n.787C>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496753C= | CA2202259966 | TBC1D24 | c.605C= (p.Ser202=) n.787C= | |
16 | g.2496753C>G | CA394376733 | TBC1D24 | c.605C>G (p.Ser202Trp) n.787C>G | |
16 | g.2496753C>T | CA319029 | TBC1D24 | c.605C>T (p.Ser202Leu) n.787C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496754G>A | CA7844030 | TBC1D24 | c.606G>A (p.Ser202=) n.788G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.2496754G>C | CA493367069 | TBC1D24 | c.606G>C (p.Ser202=) n.788G>C | |
16 | g.2496754G= | CA2202259967 | TBC1D24 | c.606G= (p.Ser202=) n.788G= | |
16 | g.2496754G>T | CA493367071 | TBC1D24 | c.606G>T (p.Ser202=) n.788G>T | |
16 | g.2496755G>A | CA394376734 | TBC1D24 | c.607G>A (p.Glu203Lys) n.789G>A | |
16 | g.2496755G>C | CA394376735 | TBC1D24 | c.607G>C (p.Glu203Gln) n.789G>C | |
16 | g.2496755G>T | CA394376736 | TBC1D24 | c.607G>T (p.Glu203Ter) n.789G>T | |
16 | g.2496756A>C | CA394376739 | TBC1D24 | c.608A>C (p.Glu203Ala) n.790A>C | |
16 | g.2496756A>G | CA394376738 | TBC1D24 | c.608A>G (p.Glu203Gly) n.790A>G | |
16 | g.2496756A>T | CA394376737 | TBC1D24 | c.608A>T (p.Glu203Val) n.790A>T | |
16 | g.2496757G>A | CA493367072 | TBC1D24 | c.609G>A (p.Glu203=) n.791G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496757G>C | CA394376740 | TBC1D24 | c.609G>C (p.Glu203Asp) n.791G>C | |
16 | g.2496757G= | CA2202259968 | TBC1D24 | c.609G= (p.Glu203=) n.791G= | |
16 | g.2496757G>T | CA394376741 | TBC1D24 | c.609G>T (p.Glu203Asp) n.791G>T | |
16 | g.2496758G>A | CA394376742 | TBC1D24 | c.610G>A (p.Asp204Asn) n.792G>A | |
16 | g.2496758G>C | CA394376744 | TBC1D24 | c.610G>C (p.Asp204His) n.792G>C | |
16 | g.2496758G>T | CA394376743 | TBC1D24 | c.610G>T (p.Asp204Tyr) n.792G>T | |
16 | g.2496759A>C | CA394376745 | TBC1D24 | c.611A>C (p.Asp204Ala) n.793A>C | |
16 | g.2496759A>G | CA394376746 | TBC1D24 | c.611A>G (p.Asp204Gly) n.793A>G | gnomAD v4 |
16 | g.2496759A>T | CA394376747 | TBC1D24 | c.611A>T (p.Asp204Val) n.793A>T | |
16 | g.2496760T>A | CA394376748 | TBC1D24 | c.612T>A (p.Asp204Glu) n.794T>A | |
16 | g.2496760T>C | CA493367075 | TBC1D24 | c.612T>C (p.Asp204=) n.794T>C | ClinVar gnomAD v4 |
16 | g.2496760T>G | CA394376749 | TBC1D24 | c.612T>G (p.Asp204Glu) n.794T>G | |
16 | g.2496761G>A | CA394376750 | TBC1D24 | c.613G>A (p.Val205Ile) n.795G>A | |
16 | g.2496761G>C | CA394376751 | TBC1D24 | c.613G>C (p.Val205Leu) n.795G>C | |
16 | g.2496761G>T | CA394376752 | TBC1D24 | c.613G>T (p.Val205Phe) n.795G>T | gnomAD v4 |
16 | g.2496762T>A | CA394376753 | TBC1D24 | c.614T>A (p.Val205Asp) n.796T>A | |
16 | g.2496762T>C | CA394376754 | TBC1D24 | c.614T>C (p.Val205Ala) n.796T>C | |
16 | g.2496762T>G | CA394376755 | TBC1D24 | c.614T>G (p.Val205Gly) n.796T>G | |
16 | g.2496763C>A | CA493367078 | TBC1D24 | c.615C>A (p.Val205=) n.797C>A | |
16 | g.2496763C>G | CA493367081 | TBC1D24 | c.615C>G (p.Val205=) n.797C>G | |
16 | g.2496763C>T | CA493367079 | TBC1D24 | c.615C>T (p.Val205=) n.797C>T | |
16 | g.2496764C>A | CA394376757 | TBC1D24 | c.616C>A (p.Leu206Met) n.798C>A | |
16 | g.2496764C= | CA2202259969 | TBC1D24 | c.616C= (p.Leu206=) n.798C= | |
16 | g.2496764C>G | CA394376756 | TBC1D24 | c.616C>G (p.Leu206Val) n.798C>G | |
16 | g.2496764C>T | CA493366782 | TBC1D24 | c.616C>T (p.Leu206=) n.798C>T | dbSNP gnomAD v2 |
16 | g.2496765T>A | CA394376758 | TBC1D24 | c.617T>A (p.Leu206Gln) n.799T>A | |
16 | g.2496765T>C | CA394376759 | TBC1D24 | c.617T>C (p.Leu206Pro) n.799T>C | |
16 | g.2496765T>G | CA394376760 | TBC1D24 | c.617T>G (p.Leu206Arg) n.799T>G | |
16 | g.2496766G>A | CA493366786 | TBC1D24 | c.618G>A (p.Leu206=) n.800G>A | |
16 | g.2496766G>C | CA493366787 | TBC1D24 | c.618G>C (p.Leu206=) n.800G>C | |
16 | g.2496766G>T | CA493366788 | TBC1D24 | c.618G>T (p.Leu206=) n.800G>T | |
16 | g.2496767C>A | CA7844032 | TBC1D24 | c.619C>A (p.Gln207Lys) n.801C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496767C= | CA2202259970 | TBC1D24 | c.619C= (p.Gln207=) n.801C= | |
16 | g.2496767C>G | CA394376761 | TBC1D24 | c.619C>G (p.Gln207Glu) n.801C>G | gnomAD v4 |
16 | g.2496767C>T | CA7844031 | TBC1D24 | c.619C>T (p.Gln207Ter) n.801C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496768A= | CA2202259972 | TBC1D24 | c.620A= (p.Gln207=) n.802A= | |
16 | g.2496768A>C | CA394376762 | TBC1D24 | c.620A>C (p.Gln207Pro) n.802A>C | |
16 | g.2496768A>G | CA394376763 | TBC1D24 | c.620A>G (p.Gln207Arg) n.802A>G | gnomAD v4 |
16 | g.2496768A>T | CA394376764 | TBC1D24 | c.620A>T (p.Gln207Leu) n.802A>T | dbSNP |
16 | g.2496768_2496769insCCTA | CA2202259971 | TBC1D24 | c.620_621insCCTA (p.Gln207HisfsTer25) n.802_803insCCTA | dbSNP |
16 | g.2496769G>A | CA493366791 | TBC1D24 | c.621G>A (p.Gln207=) n.803G>A | |
16 | g.2496769G>C | CA10577006 | TBC1D24 | c.621G>C (p.Gln207His) n.803G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496769G= | CA2202259973 | TBC1D24 | c.621G= (p.Gln207=) n.803G= | |
16 | g.2496769G>T | CA394376765 | TBC1D24 | c.621G>T (p.Gln207His) n.803G>T | |
16 | g.2496770G>A | CA394376768 | TBC1D24 | c.622G>A (p.Val208Ile) n.804G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496770G>C | CA394376767 | TBC1D24 | c.622G>C (p.Val208Leu) n.804G>C | |
16 | g.2496770G= | CA2202259974 | TBC1D24 | c.622G= (p.Val208=) n.804G= | |
16 | g.2496770G>T | CA394376766 | TBC1D24 | c.622G>T (p.Val208Phe) n.804G>T | |
16 | g.2496771T>A | CA394376769 | TBC1D24 | c.623T>A (p.Val208Asp) n.805T>A | |
16 | g.2496771T>C | CA394376770 | TBC1D24 | c.623T>C (p.Val208Ala) n.805T>C | |
16 | g.2496771T>G | CA394376771 | TBC1D24 | c.623T>G (p.Val208Gly) n.805T>G | |
16 | g.2496772C>A | CA493366793 | TBC1D24 | c.624C>A (p.Val208=) n.806C>A | |
16 | g.2496772C>G | CA493366794 | TBC1D24 | c.624C>G (p.Val208=) n.806C>G | |
16 | g.2496772C>T | CA493366797 | TBC1D24 | c.624C>T (p.Val208=) n.806C>T | ClinVar |
16 | g.2496773T>A | CA394376772 | TBC1D24 | c.625T>A (p.Tyr209Asn) n.807T>A | |
16 | g.2496773T>C | CA394376773 | TBC1D24 | c.625T>C (p.Tyr209His) n.807T>C | |
16 | g.2496773T>G | CA394376774 | TBC1D24 | c.625T>G (p.Tyr209Asp) n.807T>G | |
16 | g.2496774A= | CA2202259975 | TBC1D24 | c.626A= (p.Tyr209=) n.808A= | |
16 | g.2496774A>C | CA394376775 | TBC1D24 | c.626A>C (p.Tyr209Ser) n.808A>C | dbSNP gnomAD v4 |
16 | g.2496774A>G | CA394376776 | TBC1D24 | c.626A>G (p.Tyr209Cys) n.808A>G | |
16 | g.2496774A>T | CA394376777 | TBC1D24 | c.626A>T (p.Tyr209Phe) n.808A>T | |
16 | g.2496775T>A | CA394376778 | TBC1D24 | c.627T>A (p.Tyr209Ter) n.809T>A | |
16 | g.2496775T>C | CA7844033 | TBC1D24 | c.627T>C (p.Tyr209=) n.809T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496775T>G | CA394376779 | TBC1D24 | c.627T>G (p.Tyr209Ter) n.809T>G | |
16 | g.2496775T= | CA2202259976 | TBC1D24 | c.627T= (p.Tyr209=) n.809T= | |
16 | g.2496776G>A | CA394376782 | TBC1D24 | c.628G>A (p.Ala210Thr) n.810G>A | ClinVar dbSNP |
16 | g.2496776G>C | CA394376780 | TBC1D24 | c.628G>C (p.Ala210Pro) n.810G>C | |
16 | g.2496776G>T | CA394376781 | TBC1D24 | c.628G>T (p.Ala210Ser) n.810G>T | |
16 | g.2496777C>A | CA394376783 | TBC1D24 | c.629C>A (p.Ala210Glu) n.811C>A | |
16 | g.2496777C= | CA2202259977 | TBC1D24 | c.629C= (p.Ala210=) n.811C= | |
16 | g.2496777C>G | CA394376784 | TBC1D24 | c.629C>G (p.Ala210Gly) n.811C>G | |
16 | g.2496777C>T | CA7844034 | TBC1D24 | c.629C>T (p.Ala210Val) n.811C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.2496778G>A | CA318991 | TBC1D24 | c.630G>A (p.Ala210=) n.812G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.2496778G>C | CA493366803 | TBC1D24 | c.630G>C (p.Ala210=) n.812G>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496778G= | CA2202259978 | TBC1D24 | c.630G= (p.Ala210=) n.812G= | |
16 | g.2496778G>T | CA493366805 | TBC1D24 | c.630G>T (p.Ala210=) n.812G>T | |
16 | g.2496779G>A | CA394376785 | TBC1D24 | c.631G>A (p.Asp211Asn) n.813G>A | ClinVar dbSNP gnomAD v4 |
16 | g.2496779G>C | CA394376786 | TBC1D24 | c.631G>C (p.Asp211His) n.813G>C | |
16 | g.2496779G= | CA2202259979 | TBC1D24 | c.631G= (p.Asp211=) n.813G= | |
16 | g.2496779G>T | CA394376787 | TBC1D24 | c.631G>T (p.Asp211Tyr) n.813G>T | |
16 | g.2496780A= | CA2202259980 | TBC1D24 | c.632A= (p.Asp211=) n.814A= | |
16 | g.2496780A>C | CA394376788 | TBC1D24 | c.632A>C (p.Asp211Ala) n.814A>C | gnomAD v4 |
16 | g.2496780A>G | CA394376789 | TBC1D24 | c.632A>G (p.Asp211Gly) n.814A>G | ClinVar dbSNP |
16 | g.2496780A>T | CA394376790 | TBC1D24 | c.632A>T (p.Asp211Val) n.814A>T | |
16 | g.2496781C>A | CA394376791 | TBC1D24 | c.633C>A (p.Asp211Glu) n.815C>A | |
16 | g.2496781C>G | CA394376792 | TBC1D24 | c.633C>G (p.Asp211Glu) n.815C>G | |
16 | g.2496781C>T | CA493366807 | TBC1D24 | c.633C>T (p.Asp211=) n.815C>T | gnomAD v4 |
16 | g.2496782T>A | CA394376794 | TBC1D24 | c.634T>A (p.Trp212Arg) n.816T>A | |
16 | g.2496782T>C | CA394376795 | TBC1D24 | c.634T>C (p.Trp212Arg) n.816T>C | gnomAD v4 |
16 | g.2496782T>G | CA394376793 | TBC1D24 | c.634T>G (p.Trp212Gly) n.816T>G | gnomAD v4 |
16 | g.2496783G>A | CA394376798 | TBC1D24 | c.635G>A (p.Trp212Ter) n.817G>A | |
16 | g.2496783G>C | CA394376796 | TBC1D24 | c.635G>C (p.Trp212Ser) n.817G>C | |
16 | g.2496783G>T | CA394376797 | TBC1D24 | c.635G>T (p.Trp212Leu) n.817G>T | |
16 | g.2496784G>A | CA394376799 | TBC1D24 | c.636G>A (p.Trp212Ter) n.818G>A | ClinVar dbSNP |
16 | g.2496784G>C | CA394376800 | TBC1D24 | c.636G>C (p.Trp212Cys) n.818G>C | |
16 | g.2496784G>T | CA394376801 | TBC1D24 | c.636G>T (p.Trp212Cys) n.818G>T | gnomAD v4 |
16 | g.2496785C>A | CA394376802 | TBC1D24 | c.637C>A (p.Gln213Lys) n.819C>A | |
16 | g.2496785C>G | CA394376803 | TBC1D24 | c.637C>G (p.Gln213Glu) n.819C>G | |
16 | g.2496785C>T | CA394376804 | TBC1D24 | c.637C>T (p.Gln213Ter) n.819C>T | |
16 | g.2496790_2496941del | CA2499223458 | TBC1D24 | c.642_793del (p.Trp215GlufsTer18) n.824_975del | ClinVar dbSNP |
16 | g.2496786A>C | CA394376805 | TBC1D24 | c.638A>C (p.Gln213Pro) n.820A>C | |
16 | g.2496786A>G | CA394376806 | TBC1D24 | c.638A>G (p.Gln213Arg) n.820A>G | gnomAD v4 |
16 | g.2496786A>T | CA394376807 | TBC1D24 | c.638A>T (p.Gln213Leu) n.820A>T | |
16 | g.2496787G>A | CA493366813 | TBC1D24 | c.639G>A (p.Gln213=) n.821G>A | dbSNP gnomAD v2 |
16 | g.2496787G>C | CA394376808 | TBC1D24 | c.639G>C (p.Gln213His) n.821G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496787G= | CA2202259981 | TBC1D24 | c.639G= (p.Gln213=) n.821G= | |
16 | g.2496787G>T | CA394376809 | TBC1D24 | c.639G>T (p.Gln213His) n.821G>T | |
16 | g.2496788C>A | CA394376810 | TBC1D24 | c.640C>A (p.Arg214Ser) n.822C>A | |
16 | g.2496788C= | CA2202259982 | TBC1D24 | c.640C= (p.Arg214=) n.822C= | |
16 | g.2496788C>G | CA7844035 | TBC1D24 | c.640C>G (p.Arg214Gly) n.822C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496788C>T | CA7844036 | TBC1D24 | c.640C>T (p.Arg214Cys) n.822C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.2496789G>A | CA289069 | TBC1D24 | c.641G>A (p.Arg214His) n.823G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496789G>C | CA394376811 | TBC1D24 | c.641G>C (p.Arg214Pro) n.823G>C | |
16 | g.2496789G= | CA2202259983 | TBC1D24 | c.641G= (p.Arg214=) n.823G= | |
16 | g.2496789G>T | CA394376812 | TBC1D24 | c.641G>T (p.Arg214Leu) n.823G>T | dbSNP COSMIC |
16 | g.2496789_2496790insTGAAGCAGGACAT | CA7844037 | TBC1D24 | c.641_642insTGAAGCAGGACAT (p.Trp215GlufsTer20) n.823_824insTGAAGCAGGACAT | dbSNP ExAC |
16 | g.2496789_2496790insTGAAGCAGGACATCCGCACGTTCGT | CA620709058 | TBC1D24 | c.641_642insTGAAGCAGGACATCCGCACGTTCGT (p.Trp215GlufsTer24) n.823_824insTGAAGCAGGACATCCGCACGTTCGT | gnomAD v2 gnomAD v4 |
16 | g.2496789_2496790insTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGA | CA2631210468 | TBC1D24 | c.641_642insTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGA (p.Arg214_Trp215insGluAlaGlyHisProHisValArgGlnArgHisArgGluAsp) n.823_824insTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGA | gnomAD v4 |
16 | g.2496790C>A | CA493366820 | TBC1D24 | c.642C>A (p.Arg214=) n.824C>A | |
16 | g.2496790C= | CA2202259984 | TBC1D24 | c.642C= (p.Arg214=) n.824C= | |
16 | g.2496790C>G | CA493366818 | TBC1D24 | c.642C>G (p.Arg214=) n.824C>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496790C>T | CA276809629 | TBC1D24 | c.642C>T (p.Arg214=) n.824C>T | dbSNP |
16 | g.2496791T>A | CA394376813 | TBC1D24 | c.643T>A (p.Trp215Arg) n.825T>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496791T>C | CA7844038 | TBC1D24 | c.643T>C (p.Trp215Arg) n.825T>C | dbSNP ExAC |
16 | g.2496791T>G | CA394376814 | TBC1D24 | c.643T>G (p.Trp215Gly) n.825T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496791T= | CA2202259985 | TBC1D24 | c.643T= (p.Trp215=) n.825T= | |
16 | g.2496792G>A | CA394376815 | TBC1D24 | c.644G>A (p.Trp215Ter) n.826G>A | |
16 | g.2496792G>C | CA394376816 | TBC1D24 | c.644G>C (p.Trp215Ser) n.826G>C | |
16 | g.2496792G>T | CA394376817 | TBC1D24 | c.644G>T (p.Trp215Leu) n.826G>T | |
16 | g.2496793_2496803del | CA2575883965 | TBC1D24 | c.645_655del (p.Trp215Ter) n.827_837del | |
16 | g.2496793G>A | CA394376818 | TBC1D24 | c.645G>A (p.Trp215Ter) n.827G>A | |
16 | g.2496793G>C | CA394376819 | TBC1D24 | c.645G>C (p.Trp215Cys) n.827G>C | |
16 | g.2496793G>T | CA394376820 | TBC1D24 | c.645G>T (p.Trp215Cys) n.827G>T | |
16 | g.2496794C>A | CA394376821 | TBC1D24 | c.646C>A (p.Leu216Met) n.828C>A | |
16 | g.2496794C= | CA2202259986 | TBC1D24 | c.646C= (p.Leu216=) n.828C= | |
16 | g.2496794C>G | CA394376822 | TBC1D24 | c.646C>G (p.Leu216Val) n.828C>G | |
16 | g.2496794C>T | CA493366822 | TBC1D24 | c.646C>T (p.Leu216=) n.828C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496795T>A | CA394376823 | TBC1D24 | c.647T>A (p.Leu216Gln) n.829T>A | |
16 | g.2496795T>C | CA394376824 | TBC1D24 | c.647T>C (p.Leu216Pro) n.829T>C | |
16 | g.2496795T>G | CA394376825 | TBC1D24 | c.647T>G (p.Leu216Arg) n.829T>G | |
16 | g.2496795T= | CA2202259987 | TBC1D24 | c.647T= (p.Leu216=) n.829T= | |
16 | g.2496796G>A | CA7844039 | TBC1D24 | c.648G>A (p.Leu216=) n.830G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496796G>C | CA16607235 | TBC1D24 | c.648G>C (p.Leu216=) n.830G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496796G= | CA2202259988 | TBC1D24 | c.648G= (p.Leu216=) n.830G= | |
16 | g.2496796G>T | CA493366824 | TBC1D24 | c.648G>T (p.Leu216=) n.830G>T | |
16 | g.2496796dup | CA276809630 | TBC1D24 | c.648dup (p.Phe217ValfsTer14) n.830dup | dbSNP |
16 | g.2496797T>A | CA394376828 | TBC1D24 | c.649T>A (p.Phe217Ile) n.831T>A | |
16 | g.2496797T>C | CA394376827 | TBC1D24 | c.649T>C (p.Phe217Leu) n.831T>C | |
16 | g.2496797T>G | CA394376826 | TBC1D24 | c.649T>G (p.Phe217Val) n.831T>G | |
16 | g.2496798T>A | CA394376829 | TBC1D24 | c.650T>A (p.Phe217Tyr) n.832T>A | ClinVar dbSNP gnomAD v4 |
16 | g.2496798T>C | CA394376830 | TBC1D24 | c.650T>C (p.Phe217Ser) n.832T>C | |
16 | g.2496798T>G | CA394376831 | TBC1D24 | c.650T>G (p.Phe217Cys) n.832T>G | |
16 | g.2496798T= | CA2202259989 | TBC1D24 | c.650T= (p.Phe217=) n.832T= | |
16 | g.2496799T>A | CA394376832 | TBC1D24 | c.651T>A (p.Phe217Leu) n.833T>A | |
16 | g.2496799T>C | CA7844040 | TBC1D24 | c.651T>C (p.Phe217=) n.833T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496799T>G | CA394376833 | TBC1D24 | c.651T>G (p.Phe217Leu) n.833T>G | |
16 | g.2496799T= | CA2202259990 | TBC1D24 | c.651T= (p.Phe217=) n.833T= | |
16 | g.2496800G>A | CA394376834 | TBC1D24 | c.652G>A (p.Gly218Arg) n.834G>A | |
16 | g.2496800G>C | CA394376836 | TBC1D24 | c.652G>C (p.Gly218Arg) n.834G>C | |
16 | g.2496800G>T | CA394376835 | TBC1D24 | c.652G>T (p.Gly218Trp) n.834G>T | gnomAD v4 |
16 | g.2496801G>A | CA394376837 | TBC1D24 | c.653G>A (p.Gly218Glu) n.835G>A | |
16 | g.2496801G>C | CA394376838 | TBC1D24 | c.653G>C (p.Gly218Ala) n.835G>C | dbSNP |
16 | g.2496801G= | CA2202259991 | TBC1D24 | c.653G= (p.Gly218=) n.835G= | |
16 | g.2496801G>T | CA394376839 | TBC1D24 | c.653G>T (p.Gly218Val) n.835G>T | |
16 | g.2496802G>A | CA493366825 | TBC1D24 | c.654G>A (p.Gly218=) n.836G>A | |
16 | g.2496802G>C | CA493366826 | TBC1D24 | c.654G>C (p.Gly218=) n.836G>C | gnomAD v4 |
16 | g.2496802G>T | CA493366827 | TBC1D24 | c.654G>T (p.Gly218=) n.836G>T | |
16 | g.2496803G>A | CA394376840 | TBC1D24 | c.655G>A (p.Glu219Lys) n.837G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496803G>C | CA394376841 | TBC1D24 | c.655G>C (p.Glu219Gln) n.837G>C | |
16 | g.2496803G= | CA2202259992 | TBC1D24 | c.655G= (p.Glu219=) n.837G= | |
16 | g.2496803G>T | CA394376842 | TBC1D24 | c.655G>T (p.Glu219Ter) n.837G>T | |
16 | g.2496804A>C | CA394376843 | TBC1D24 | c.656A>C (p.Glu219Ala) n.838A>C | |
16 | g.2496804A>G | CA394376844 | TBC1D24 | c.656A>G (p.Glu219Gly) n.838A>G | gnomAD v4 |
16 | g.2496804A>T | CA394376845 | TBC1D24 | c.656A>T (p.Glu219Val) n.838A>T | |
16 | g.2496805G>A | CA293863 | TBC1D24 | c.657G>A (p.Glu219=) n.839G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496805G>C | CA394376846 | TBC1D24 | c.657G>C (p.Glu219Asp) n.839G>C | |
16 | g.2496805G= | CA2202259993 | TBC1D24 | c.657G= (p.Glu219=) n.839G= | |
16 | g.2496805G>T | CA394376847 | TBC1D24 | c.657G>T (p.Glu219Asp) n.839G>T | |
16 | g.2496806C>A | CA394376848 | TBC1D24 | c.658C>A (p.Leu220Met) n.840C>A | |
16 | g.2496806C>G | CA394376849 | TBC1D24 | c.658C>G (p.Leu220Val) n.840C>G | |
16 | g.2496806C>T | CA493366828 | TBC1D24 | c.658C>T (p.Leu220=) n.840C>T | |
16 | g.2496807T>A | CA394376850 | TBC1D24 | c.659T>A (p.Leu220Gln) n.841T>A | |
16 | g.2496807T>C | CA394376852 | TBC1D24 | c.659T>C (p.Leu220Pro) n.841T>C | ClinVar dbSNP |
16 | g.2496807T>G | CA394376851 | TBC1D24 | c.659T>G (p.Leu220Arg) n.841T>G | |
16 | g.2496807T= | CA2202259994 | TBC1D24 | c.659T= (p.Leu220=) n.841T= | |
16 | g.2496808G>A | CA493366829 | TBC1D24 | c.660G>A (p.Leu220=) n.842G>A | |
16 | g.2496808G>C | CA493366830 | TBC1D24 | c.660G>C (p.Leu220=) n.842G>C | |
16 | g.2496808G>T | CA493366831 | TBC1D24 | c.660G>T (p.Leu220=) n.842G>T | |
16 | g.2496809C>A | CA394376853 | TBC1D24 | c.661C>A (p.Pro221Thr) n.843C>A | |
16 | g.2496809C= | CA2202259995 | TBC1D24 | c.661C= (p.Pro221=) n.843C= | |
16 | g.2496809C>G | CA394376854 | TBC1D24 | c.661C>G (p.Pro221Ala) n.843C>G | |
16 | g.2496809C>T | CA7844041 | TBC1D24 | c.661C>T (p.Pro221Ser) n.843C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496810C>A | CA394376855 | TBC1D24 | c.662C>A (p.Pro221His) n.844C>A | |
16 | g.2496810C>G | CA394376856 | TBC1D24 | c.662C>G (p.Pro221Arg) n.844C>G | |
16 | g.2496810C>T | CA394376857 | TBC1D24 | c.662C>T (p.Pro221Leu) n.844C>T | |
16 | g.2496811C>A | CA493366832 | TBC1D24 | c.663C>A (p.Pro221=) n.845C>A | |
16 | g.2496811C= | CA2202259996 | TBC1D24 | c.663C= (p.Pro221=) n.845C= | |
16 | g.2496811C>G | CA7844042 | TBC1D24 | c.663C>G (p.Pro221=) n.845C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496811C>T | CA318993 | TBC1D24 | c.663C>T (p.Pro221=) n.845C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496812C>A | CA394376858 | TBC1D24 | c.664C>A (p.Leu222Ile) n.846C>A | |
16 | g.2496812C>G | CA394376859 | TBC1D24 | c.664C>G (p.Leu222Val) n.846C>G | |
16 | g.2496812C>T | CA394376860 | TBC1D24 | c.664C>T (p.Leu222Phe) n.846C>T | |
16 | g.2496814_2496815del | CA2631210530 | TBC1D24 | c.666_667del (p.Cys223LeufsTer7) n.848_849del | gnomAD v4 |
16 | g.2496813T>A | CA394376861 | TBC1D24 | c.665T>A (p.Leu222His) n.847T>A | |
16 | g.2496813T>C | CA276809631 | TBC1D24 | c.665T>C (p.Leu222Pro) n.847T>C | dbSNP gnomAD v4 |
16 | g.2496813T>G | CA394376862 | TBC1D24 | c.665T>G (p.Leu222Arg) n.847T>G | |
16 | g.2496813T= | CA2202259997 | TBC1D24 | c.665T= (p.Leu222=) n.847T= | |
16 | g.2496814C>A | CA493366833 | TBC1D24 | c.666C>A (p.Leu222=) n.848C>A | |
16 | g.2496814C= | CA2202259998 | TBC1D24 | c.666C= (p.Leu222=) n.848C= | |
16 | g.2496814C>G | CA493366834 | TBC1D24 | c.666C>G (p.Leu222=) n.848C>G | |
16 | g.2496814C>T | CA493366835 | TBC1D24 | c.666C>T (p.Leu222=) n.848C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496815T>A | CA394376865 | TBC1D24 | c.667T>A (p.Cys223Ser) n.849T>A | |
16 | g.2496815T>C | CA394376863 | TBC1D24 | c.667T>C (p.Cys223Arg) n.849T>C | |
16 | g.2496815T>G | CA394376864 | TBC1D24 | c.667T>G (p.Cys223Gly) n.849T>G | gnomAD v4 |
16 | g.2496816G>A | CA394376866 | TBC1D24 | c.668G>A (p.Cys223Tyr) n.850G>A | gnomAD v4 |
16 | g.2496816G>C | CA394376867 | TBC1D24 | c.668G>C (p.Cys223Ser) n.850G>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496816G= | CA2202259999 | TBC1D24 | c.668G= (p.Cys223=) n.850G= | |
16 | g.2496816G>T | CA394376868 | TBC1D24 | c.668G>T (p.Cys223Phe) n.850G>T | |
16 | g.2496816_2496817delinsAA | CA2580091039 | TBC1D24 | c.668_669delinsAA (p.Cys223Ter) n.850_851delinsAA | ClinVar |
16 | g.2496817C>A | CA394376869 | TBC1D24 | c.669C>A (p.Cys223Ter) n.851C>A | |
16 | g.2496817C= | CA2202260000 | TBC1D24 | c.669C= (p.Cys223=) n.851C= | |
16 | g.2496817C>G | CA394376870 | TBC1D24 | c.669C>G (p.Cys223Trp) n.851C>G | |
16 | g.2496817C>T | CA493366836 | TBC1D24 | c.669C>T (p.Cys223=) n.851C>T | dbSNP |
16 | g.2496818T>A | CA394376871 | TBC1D24 | c.670T>A (p.Tyr224Asn) n.852T>A | |
16 | g.2496818T>C | CA7844043 | TBC1D24 | c.670T>C (p.Tyr224His) n.852T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496818T>G | CA394376872 | TBC1D24 | c.670T>G (p.Tyr224Asp) n.852T>G | |
16 | g.2496818T= | CA2202260001 | TBC1D24 | c.670T= (p.Tyr224=) n.852T= | |
16 | g.2496819A>C | CA394376873 | TBC1D24 | c.671A>C (p.Tyr224Ser) n.853A>C | |
16 | g.2496819A>G | CA394376874 | TBC1D24 | c.671A>G (p.Tyr224Cys) n.853A>G | |
16 | g.2496819A>T | CA394376875 | TBC1D24 | c.671A>T (p.Tyr224Phe) n.853A>T | |
16 | g.2496820C>A | CA394376877 | TBC1D24 | c.672C>A (p.Tyr224Ter) n.854C>A | |
16 | g.2496820C>G | CA394376876 | TBC1D24 | c.672C>G (p.Tyr224Ter) n.854C>G | |
16 | g.2496820C>T | CA493366838 | TBC1D24 | c.672C>T (p.Tyr224=) n.854C>T | |
16 | g.2496821T>A | CA394376878 | TBC1D24 | c.673T>A (p.Phe225Ile) n.855T>A | |
16 | g.2496821T>C | CA394376879 | TBC1D24 | c.673T>C (p.Phe225Leu) n.855T>C | |
16 | g.2496821T>G | CA394376880 | TBC1D24 | c.673T>G (p.Phe225Val) n.855T>G | |
16 | g.2496822T>A | CA394376881 | TBC1D24 | c.674T>A (p.Phe225Tyr) n.856T>A | |
16 | g.2496822T>C | CA394376882 | TBC1D24 | c.674T>C (p.Phe225Ser) n.856T>C | |
16 | g.2496822T>G | CA394376883 | TBC1D24 | c.674T>G (p.Phe225Cys) n.856T>G | |
16 | g.2496823C>A | CA394376884 | TBC1D24 | c.675C>A (p.Phe225Leu) n.857C>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496823C= | CA2202260002 | TBC1D24 | c.675C= (p.Phe225=) n.857C= | |
16 | g.2496823C>G | CA394376885 | TBC1D24 | c.675C>G (p.Phe225Leu) n.857C>G | |
16 | g.2496823C>T | CA276809632 | TBC1D24 | c.675C>T (p.Phe225=) n.857C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.2496824G>A | CA319032 | TBC1D24 | c.676G>A (p.Ala226Thr) n.858G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496824G>C | CA394376886 | TBC1D24 | c.676G>C (p.Ala226Pro) n.858G>C | |
16 | g.2496824G= | CA2202260003 | TBC1D24 | c.676G= (p.Ala226=) n.858G= | |
16 | g.2496824G>T | CA394376887 | TBC1D24 | c.676G>T (p.Ala226Ser) n.858G>T | |
16 | g.2496825C>A | CA394376888 | TBC1D24 | c.677C>A (p.Ala226Asp) n.859C>A | |
16 | g.2496825C>G | CA394376889 | TBC1D24 | c.677C>G (p.Ala226Gly) n.859C>G | |
16 | g.2496825C>T | CA394376890 | TBC1D24 | c.677C>T (p.Ala226Val) n.859C>T | gnomAD v4 |
16 | g.2496826C>A | CA493366839 | TBC1D24 | c.678C>A (p.Ala226=) n.860C>A | |
16 | g.2496826C>G | CA493366841 | TBC1D24 | c.678C>G (p.Ala226=) n.860C>G | |
16 | g.2496826C>T | CA493366840 | TBC1D24 | c.678C>T (p.Ala226=) n.860C>T | |
16 | g.2496827C>A | CA493366842 | TBC1D24 | c.679C>A (p.Arg227=) n.861C>A | |
16 | g.2496827C= | CA2202260004 | TBC1D24 | c.679C= (p.Arg227=) n.861C= | |
16 | g.2496827C>G | CA394376891 | TBC1D24 | c.679C>G (p.Arg227Gly) n.861C>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496827C>T | CA7844044 | TBC1D24 | c.679C>T (p.Arg227Trp) n.861C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496828G>A | CA7844045 | TBC1D24 | c.680G>A (p.Arg227Gln) n.862G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496828G>C | CA394376892 | TBC1D24 | c.680G>C (p.Arg227Pro) n.862G>C | |
16 | g.2496828G= | CA2202260005 | TBC1D24 | c.680G= (p.Arg227=) n.862G= | |
16 | g.2496828G>T | CA319035 | TBC1D24 | c.680G>T (p.Arg227Leu) n.862G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496829G>A | CA493366843 | TBC1D24 | c.681G>A (p.Arg227=) n.863G>A | |
16 | g.2496829G>C | CA493366844 | TBC1D24 | c.681G>C (p.Arg227=) n.863G>C | |
16 | g.2496829G>T | CA493366845 | TBC1D24 | c.681G>T (p.Arg227=) n.863G>T | |
16 | g.2496830G>A | CA394376893 | TBC1D24 | c.682G>A (p.Val228Ile) n.864G>A | |
16 | g.2496830G>C | CA394376894 | TBC1D24 | c.682G>C (p.Val228Leu) n.864G>C | |
16 | g.2496830G>T | CA394376895 | TBC1D24 | c.682G>T (p.Val228Phe) n.864G>T | |
16 | g.2496831T>A | CA7844046 | TBC1D24 | c.683T>A (p.Val228Asp) n.865T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496831T>C | CA394376896 | TBC1D24 | c.683T>C (p.Val228Ala) n.865T>C | |
16 | g.2496831T>G | CA394376897 | TBC1D24 | c.683T>G (p.Val228Gly) n.865T>G | dbSNP |
16 | g.2496831T= | CA2202260006 | TBC1D24 | c.683T= (p.Val228=) n.865T= | |
16 | g.2496832C>A | CA493366846 | TBC1D24 | c.684C>A (p.Val228=) n.866C>A | gnomAD v4 |
16 | g.2496832C= | CA2202260007 | TBC1D24 | c.684C= (p.Val228=) n.866C= | |
16 | g.2496832C>G | CA493366847 | TBC1D24 | c.684C>G (p.Val228=) n.866C>G | gnomAD v4 |
16 | g.2496832C>T | CA493366848 | TBC1D24 | c.684C>T (p.Val228=) n.866C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |