Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.2496790_2496941del | CA2499223458 | TBC1D24 | c.642_793del (p.Trp215GlufsTer18) n.824_975del | ClinVar dbSNP |
16 | g.2496793_2496803del | CA2575883965 | TBC1D24 | c.645_655del (p.Trp215Ter) n.827_837del | |
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 |
16 | g.2496833T>A | CA394376898 | TBC1D24 | c.685T>A (p.Phe229Ile) n.867T>A | |
16 | g.2496833T>C | CA394376899 | TBC1D24 | c.685T>C (p.Phe229Leu) n.867T>C | |
16 | g.2496833T>G | CA394376900 | TBC1D24 | c.685T>G (p.Phe229Val) n.867T>G | |
16 | g.2496834T>A | CA394376902 | TBC1D24 | c.686T>A (p.Phe229Tyr) n.868T>A | |
16 | g.2496834T>C | CA344789 | TBC1D24 | c.686T>C (p.Phe229Ser) n.868T>C | ClinVar dbSNP gnomAD v4 |
16 | g.2496834T>G | CA394376901 | TBC1D24 | c.686T>G (p.Phe229Cys) n.868T>G | |
16 | g.2496834T= | CA2202260008 | TBC1D24 | c.686T= (p.Phe229=) n.868T= | |
16 | g.2496835T>A | CA394376904 | TBC1D24 | c.687T>A (p.Phe229Leu) n.869T>A | |
16 | g.2496835T>C | CA493366849 | TBC1D24 | c.687T>C (p.Phe229=) n.869T>C | |
16 | g.2496835T>G | CA394376903 | TBC1D24 | c.687T>G (p.Phe229Leu) n.869T>G | |
16 | g.2496836G>A | CA394376905 | TBC1D24 | c.688G>A (p.Asp230Asn) n.870G>A | |
16 | g.2496836G>C | CA394376906 | TBC1D24 | c.688G>C (p.Asp230His) n.870G>C | |
16 | g.2496836G>T | CA394376907 | TBC1D24 | c.688G>T (p.Asp230Tyr) n.870G>T | |
16 | g.2496837A>C | CA394376908 | TBC1D24 | c.689A>C (p.Asp230Ala) n.871A>C | |
16 | g.2496837A>G | CA394376909 | TBC1D24 | c.689A>G (p.Asp230Gly) n.871A>G | |
16 | g.2496837A>T | CA394376910 | TBC1D24 | c.689A>T (p.Asp230Val) n.871A>T | |
16 | g.2496838C>A | CA394376911 | TBC1D24 | c.690C>A (p.Asp230Glu) n.872C>A | |
16 | g.2496838C= | CA2202260009 | TBC1D24 | c.690C= (p.Asp230=) n.872C= | |
16 | g.2496838C>G | CA394376912 | TBC1D24 | c.690C>G (p.Asp230Glu) n.872C>G | |
16 | g.2496838C>T | CA7844047 | TBC1D24 | c.690C>T (p.Asp230=) n.872C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496838_2496840delinsCGT | CA2202260011 | TBC1D24 | c.690_692delinsCGT (p.Asp230=) n.872_874delinsCGT | |
16 | g.2496838_2496848delinsCGTCTTCCTGG | CA2202260010 | TBC1D24 | c.690_700delinsCGTCTTCCTGG (p.Asp230=) n.872_882delinsCGTCTTCCTGG | |
16 | g.2496838_2496839insAAAGA | CA2631210592 | TBC1D24 | c.690_691insAAAGA (p.Val231LysfsTer26) n.872_873insAAAGA | gnomAD v4 |
16 | g.2496839del | CA2631210597 | TBC1D24 | c.691del (p.Val231SerfsTer24) n.873del | gnomAD v4 |
16 | g.2496839G>A | CA7844048 | TBC1D24 | c.691G>A (p.Val231Ile) n.873G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496839G>C | CA394376913 | TBC1D24 | c.691G>C (p.Val231Leu) n.873G>C | |
16 | g.2496839G= | CA2202260012 | TBC1D24 | c.691G= (p.Val231=) n.873G= | |
16 | g.2496839G>T | CA394376914 | TBC1D24 | c.691G>T (p.Val231Phe) n.873G>T | |
16 | g.2496839_2496840del | CA620709059 | TBC1D24 | c.691_692del (p.Val231LeufsTer?) n.873_874del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496839_2496848delinsCTT | CA319071 | TBC1D24 | c.691_700delinsCTT (p.Val231LeufsTer22) n.873_882delinsCTT | ClinVar dbSNP |
16 | g.2496840T>A | CA394376919 | TBC1D24 | c.692T>A (p.Val231Asp) n.874T>A | |
16 | g.2496840T>C | CA394376915 | TBC1D24 | c.692T>C (p.Val231Ala) n.874T>C | |
16 | g.2496840T>G | CA394376917 | TBC1D24 | c.692T>G (p.Val231Gly) n.874T>G | |
16 | g.2496841C>A | CA493366850 | TBC1D24 | c.693C>A (p.Val231=) n.875C>A | gnomAD v4 |
16 | g.2496841C= | CA2202260013 | TBC1D24 | c.693C= (p.Val231=) n.875C= | |
16 | g.2496841C>G | CA276809633 | TBC1D24 | c.693C>G (p.Val231=) n.875C>G | dbSNP gnomAD v4 |
16 | g.2496841C>T | CA493366851 | TBC1D24 | c.693C>T (p.Val231=) n.875C>T | |
16 | g.2496842T>A | CA394376921 | TBC1D24 | c.694T>A (p.Phe232Ile) n.876T>A | |
16 | g.2496842T>C | CA394376923 | TBC1D24 | c.694T>C (p.Phe232Leu) n.876T>C | |
16 | g.2496842T>G | CA394376925 | TBC1D24 | c.694T>G (p.Phe232Val) n.876T>G | |
16 | g.2496843T>A | CA394376928 | TBC1D24 | c.695T>A (p.Phe232Tyr) n.877T>A | |
16 | g.2496843T>C | CA394376930 | TBC1D24 | c.695T>C (p.Phe232Ser) n.877T>C | |
16 | g.2496843T>G | CA394376931 | TBC1D24 | c.695T>G (p.Phe232Cys) n.877T>G | |
16 | g.2496843_2496848delinsTCCTGG | CA2202260014 | TBC1D24 | c.695_700delinsTCCTGG (p.Phe232=) n.877_882delinsTCCTGG | |
16 | g.2496844C>A | CA394376935 | TBC1D24 | c.696C>A (p.Phe232Leu) n.878C>A | |
16 | g.2496844C>G | CA394376936 | TBC1D24 | c.696C>G (p.Phe232Leu) n.878C>G | |
16 | g.2496844C>T | CA493366853 | TBC1D24 | c.696C>T (p.Phe232=) n.878C>T | COSMIC |
16 | g.2496844_2496848del | CA620709061 | TBC1D24 | c.696_700del (p.Leu233GlyfsTer?) n.878_882del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496845C>A | CA394376939 | TBC1D24 | c.697C>A (p.Leu233Met) n.879C>A | |
16 | g.2496845C>G | CA394376941 | TBC1D24 | c.697C>G (p.Leu233Val) n.879C>G | |
16 | g.2496845C>T | CA493366854 | TBC1D24 | c.697C>T (p.Leu233=) n.879C>T | COSMIC |
16 | g.2496846T>A | CA394376942 | TBC1D24 | c.698T>A (p.Leu233Gln) n.880T>A | |
16 | g.2496846T>C | CA394376943 | TBC1D24 | c.698T>C (p.Leu233Pro) n.880T>C | |
16 | g.2496846T>G | CA394376945 | TBC1D24 | c.698T>G (p.Leu233Arg) n.880T>G | |
16 | g.2496847G>A | CA493366856 | TBC1D24 | c.699G>A (p.Leu233=) n.881G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496847G>C | CA493366857 | TBC1D24 | c.699G>C (p.Leu233=) n.881G>C | |
16 | g.2496847G= | CA2202260015 | TBC1D24 | c.699G= (p.Leu233=) n.881G= | |
16 | g.2496847G>T | CA493366858 | TBC1D24 | c.699G>T (p.Leu233=) n.881G>T | |
16 | g.2496848G>A | CA394376948 | TBC1D24 | c.700G>A (p.Val234Met) n.882G>A | |
16 | g.2496848G>C | CA394376952 | TBC1D24 | c.700G>C (p.Val234Leu) n.882G>C | |
16 | g.2496848G>T | CA394376949 | TBC1D24 | c.700G>T (p.Val234Leu) n.882G>T | ClinVar |
16 | g.2496849T>A | CA394376954 | TBC1D24 | c.701T>A (p.Val234Glu) n.883T>A | |
16 | g.2496849T>C | CA394376955 | TBC1D24 | c.701T>C (p.Val234Ala) n.883T>C | |
16 | g.2496849T>G | CA394376957 | TBC1D24 | c.701T>G (p.Val234Gly) n.883T>G | |
16 | g.2496850G>A | CA318996 | TBC1D24 | c.702G>A (p.Val234=) n.884G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496850G>C | CA7844049 | TBC1D24 | c.702G>C (p.Val234=) n.884G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496850G= | CA2202260016 | TBC1D24 | c.702G= (p.Val234=) n.884G= | |
16 | g.2496850G>T | CA493366863 | TBC1D24 | c.702G>T (p.Val234=) n.884G>T | |
16 | g.2496851G>A | CA394376962 | TBC1D24 | c.703G>A (p.Glu235Lys) n.885G>A | |
16 | g.2496851G>C | CA394376963 | TBC1D24 | c.703G>C (p.Glu235Gln) n.885G>C | |
16 | g.2496851G>T | CA394376964 | TBC1D24 | c.703G>T (p.Glu235Ter) n.885G>T | |
16 | g.2496852A>C | CA394376966 | TBC1D24 | c.704A>C (p.Glu235Ala) n.886A>C | |
16 | g.2496852A>G | CA394376969 | TBC1D24 | c.704A>G (p.Glu235Gly) n.886A>G | |
16 | g.2496852A>T | CA394376970 | TBC1D24 | c.704A>T (p.Glu235Val) n.886A>T | |
16 | g.2496853G>A | CA493366865 | TBC1D24 | c.705G>A (p.Glu235=) n.887G>A | |
16 | g.2496853G>C | CA394376972 | TBC1D24 | c.705G>C (p.Glu235Asp) n.887G>C | dbSNP gnomAD v2 |
16 | g.2496853G= | CA2202260017 | TBC1D24 | c.705G= (p.Glu235=) n.887G= | |
16 | g.2496853G>T | CA394376974 | TBC1D24 | c.705G>T (p.Glu235Asp) n.887G>T | |
16 | g.2496854G>A | CA394376977 | TBC1D24 | c.706G>A (p.Gly236Ser) n.888G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496854G>C | CA394376981 | TBC1D24 | c.706G>C (p.Gly236Arg) n.888G>C | |
16 | g.2496854G= | CA2202260018 | TBC1D24 | c.706G= (p.Gly236=) n.888G= | |
16 | g.2496854G>T | CA394376979 | TBC1D24 | c.706G>T (p.Gly236Cys) n.888G>T | |
16 | g.2496855G>A | CA394376983 | TBC1D24 | c.707G>A (p.Gly236Asp) n.889G>A | |
16 | g.2496855G>C | CA394376985 | TBC1D24 | c.707G>C (p.Gly236Ala) n.889G>C | |
16 | g.2496855G>T | CA394376986 | TBC1D24 | c.707G>T (p.Gly236Val) n.889G>T | |
16 | g.2496856C>A | CA493366870 | TBC1D24 | c.708C>A (p.Gly236=) n.890C>A | |
16 | g.2496856C>G | CA493366871 | TBC1D24 | c.708C>G (p.Gly236=) n.890C>G | |
16 | g.2496856C>T | CA493366872 | TBC1D24 | c.708C>T (p.Gly236=) n.890C>T | |
16 | g.2496857T>A | CA394376988 | TBC1D24 | c.709T>A (p.Tyr237Asn) n.891T>A | |
16 | g.2496857T>C | CA7844050 | TBC1D24 | c.709T>C (p.Tyr237His) n.891T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496857T>G | CA394376991 | TBC1D24 | c.709T>G (p.Tyr237Asp) n.891T>G | |
16 | g.2496857T= | CA2202260019 | TBC1D24 | c.709T= (p.Tyr237=) n.891T= | |
16 | g.2496858A= | CA2202260020 | TBC1D24 | c.710A= (p.Tyr237=) n.892A= | |
16 | g.2496858A>C | CA394376992 | TBC1D24 | c.710A>C (p.Tyr237Ser) n.892A>C | |
16 | g.2496858A>G | CA394376995 | TBC1D24 | c.710A>G (p.Tyr237Cys) n.892A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496858A>T | CA394376996 | TBC1D24 | c.710A>T (p.Tyr237Phe) n.892A>T | |
16 | g.2496859C>A | CA394376997 | TBC1D24 | c.711C>A (p.Tyr237Ter) n.893C>A | |
16 | g.2496859C= | CA2202260021 | TBC1D24 | c.711C= (p.Tyr237=) n.893C= | |
16 | g.2496859C>G | CA394376998 | TBC1D24 | c.711C>G (p.Tyr237Ter) n.893C>G | |
16 | g.2496859C>T | CA493366881 | TBC1D24 | c.711C>T (p.Tyr237=) n.893C>T | dbSNP |
16 | g.2496860A= | CA2202260022 | TBC1D24 | c.712A= (p.Lys238=) n.894A= | |
16 | g.2496860A>C | CA394377001 | TBC1D24 | c.712A>C (p.Lys238Gln) n.894A>C | |
16 | g.2496860A>G | CA394377002 | TBC1D24 | c.712A>G (p.Lys238Glu) n.894A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496860A>T | CA394377000 | TBC1D24 | c.712A>T (p.Lys238Ter) n.894A>T | |
16 | g.2496861A>C | CA394377005 | TBC1D24 | c.713A>C (p.Lys238Thr) n.895A>C | |
16 | g.2496861A>G | CA394377008 | TBC1D24 | c.713A>G (p.Lys238Arg) n.895A>G | gnomAD v4 |
16 | g.2496861A>T | CA394377007 | TBC1D24 | c.713A>T (p.Lys238Met) n.895A>T | |
16 | g.2496862G>A | CA7844051 | TBC1D24 | c.714G>A (p.Lys238=) n.896G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496862G>C | CA394377013 | TBC1D24 | c.714G>C (p.Lys238Asn) n.896G>C | |
16 | g.2496862G= | CA2202260023 | TBC1D24 | c.714G= (p.Lys238=) n.896G= | |
16 | g.2496862G>T | CA394377011 | TBC1D24 | c.714G>T (p.Lys238Asn) n.896G>T | |
16 | g.2496863del | CA2499223459 | TBC1D24 | c.715del (p.Val239CysfsTer16) n.897del | ClinVar dbSNP gnomAD v4 |
16 | g.2496863G>A | CA394377016 | TBC1D24 | c.715G>A (p.Val239Met) n.897G>A | |
16 | g.2496863G>C | CA394377017 | TBC1D24 | c.715G>C (p.Val239Leu) n.897G>C | |
16 | g.2496863G>T | CA394377018 | TBC1D24 | c.715G>T (p.Val239Leu) n.897G>T | gnomAD v4 |
16 | g.2496864T>A | CA394377019 | TBC1D24 | c.716T>A (p.Val239Glu) n.898T>A | |
16 | g.2496864T>C | CA394377021 | TBC1D24 | c.716T>C (p.Val239Ala) n.898T>C | gnomAD v4 |
16 | g.2496864T>G | CA394377023 | TBC1D24 | c.716T>G (p.Val239Gly) n.898T>G | |
16 | g.2496865G>A | CA493366891 | TBC1D24 | c.717G>A (p.Val239=) n.899G>A | ClinVar |
16 | g.2496865G>C | CA493366892 | TBC1D24 | c.717G>C (p.Val239=) n.899G>C | |
16 | g.2496865G>T | CA493366894 | TBC1D24 | c.717G>T (p.Val239=) n.899G>T | |
16 | g.2496866C>A | CA394377025 | TBC1D24 | c.718C>A (p.Leu240Met) n.900C>A | |
16 | g.2496866C>G | CA394377026 | TBC1D24 | c.718C>G (p.Leu240Val) n.900C>G | |
16 | g.2496866C>T | CA493366896 | TBC1D24 | c.718C>T (p.Leu240=) n.900C>T | |
16 | g.2496867T>A | CA394377029 | TBC1D24 | c.719T>A (p.Leu240Gln) n.901T>A | |
16 | g.2496867T>C | CA394377030 | TBC1D24 | c.719T>C (p.Leu240Pro) n.901T>C | gnomAD v4 |
16 | g.2496867T>G | CA394377031 | TBC1D24 | c.719T>G (p.Leu240Arg) n.901T>G | ClinVar |
16 | g.2496868G>A | CA493366899 | TBC1D24 | c.720G>A (p.Leu240=) n.902G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496868G>C | CA493366903 | TBC1D24 | c.720G>C (p.Leu240=) n.902G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496868G= | CA2202260024 | TBC1D24 | c.720G= (p.Leu240=) n.902G= | |
16 | g.2496868G>T | CA493366901 | TBC1D24 | c.720G>T (p.Leu240=) n.902G>T | |
16 | g.2496869T>A | CA394377036 | TBC1D24 | c.721T>A (p.Tyr241Asn) n.903T>A | ClinVar |
16 | g.2496869T>C | CA394377033 | TBC1D24 | c.721T>C (p.Tyr241His) n.903T>C | |
16 | g.2496869T>G | CA394377034 | TBC1D24 | c.721T>G (p.Tyr241Asp) n.903T>G | |
16 | g.2496870A= | CA2202260025 | TBC1D24 | c.722A= (p.Tyr241=) n.904A= | |
16 | g.2496870A>C | CA394377039 | TBC1D24 | c.722A>C (p.Tyr241Ser) n.904A>C | |
16 | g.2496870A>G | CA394377041 | TBC1D24 | c.722A>G (p.Tyr241Cys) n.904A>G | dbSNP gnomAD v4 |
16 | g.2496870A>T | CA394377042 | TBC1D24 | c.722A>T (p.Tyr241Phe) n.904A>T | |
16 | g.2496871C>A | CA394377044 | TBC1D24 | c.723C>A (p.Tyr241Ter) n.905C>A | |
16 | g.2496871C>G | CA394377045 | TBC1D24 | c.723C>G (p.Tyr241Ter) n.905C>G | |
16 | g.2496871C>T | CA493366908 | TBC1D24 | c.723C>T (p.Tyr241=) n.905C>T | gnomAD v4 |
16 | g.2496872C>A | CA394377046 | TBC1D24 | c.724C>A (p.Arg242Ser) n.906C>A | |
16 | g.2496872C= | CA2202260026 | TBC1D24 | c.724C= (p.Arg242=) n.906C= | |
16 | g.2496872C>G | CA394377048 | TBC1D24 | c.724C>G (p.Arg242Gly) n.906C>G | gnomAD v4 |
16 | g.2496872C>T | CA319025 | TBC1D24 | c.724C>T (p.Arg242Cys) n.906C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.2496873G>A | CA7844052 | TBC1D24 | c.725G>A (p.Arg242His) n.907G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496873G>C | CA394377052 | TBC1D24 | c.725G>C (p.Arg242Pro) n.907G>C | |
16 | g.2496873G= | CA2202260027 | TBC1D24 | c.725G= (p.Arg242=) n.907G= | |
16 | g.2496873G>T | CA394377054 | TBC1D24 | c.725G>T (p.Arg242Leu) n.907G>T | gnomAD v4 |
16 | g.2496874C>A | CA493366912 | TBC1D24 | c.726C>A (p.Arg242=) n.908C>A | |
16 | g.2496874C= | CA2202260028 | TBC1D24 | c.726C= (p.Arg242=) n.908C= | |
16 | g.2496874C>G | CA493366913 | TBC1D24 | c.726C>G (p.Arg242=) n.908C>G | |
16 | g.2496874C>T | CA7844053 | TBC1D24 | c.726C>T (p.Arg242=) n.908C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496875G>A | CA7844054 | TBC1D24 | c.727G>A (p.Val243Met) n.909G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496875G>C | CA394377058 | TBC1D24 | c.727G>C (p.Val243Leu) n.909G>C | |
16 | g.2496875G= | CA2202260029 | TBC1D24 | c.727G= (p.Val243=) n.909G= | |
16 | g.2496875G>T | CA394377060 | TBC1D24 | c.727G>T (p.Val243Leu) n.909G>T | gnomAD v4 |
16 | g.2496876T>A | CA394377062 | TBC1D24 | c.728T>A (p.Val243Glu) n.910T>A | |
16 | g.2496876T>C | CA394377063 | TBC1D24 | c.728T>C (p.Val243Ala) n.910T>C | |
16 | g.2496876T>G | CA394377065 | TBC1D24 | c.728T>G (p.Val243Gly) n.910T>G | |
16 | g.2496877G>A | CA493366923 | TBC1D24 | c.729G>A (p.Val243=) n.911G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496877G>C | CA493366922 | TBC1D24 | c.729G>C (p.Val243=) n.911G>C | |
16 | g.2496877G= | CA2202260030 | TBC1D24 | c.729G= (p.Val243=) n.911G= | |
16 | g.2496877G>T | CA493366921 | TBC1D24 | c.729G>T (p.Val243=) n.911G>T | |
16 | g.2496878G>A | CA394377068 | TBC1D24 | c.730G>A (p.Ala244Thr) n.912G>A | |
16 | g.2496878G>C | CA394377069 | TBC1D24 | c.730G>C (p.Ala244Pro) n.912G>C | |
16 | g.2496878G>T | CA394377070 | TBC1D24 | c.730G>T (p.Ala244Ser) n.912G>T | |
16 | g.2496879C>A | CA394377072 | TBC1D24 | c.731C>A (p.Ala244Glu) n.913C>A | ClinVar dbSNP gnomAD v4 |
16 | g.2496879C= | CA2202260031 | TBC1D24 | c.731C= (p.Ala244=) n.913C= | |
16 | g.2496879C>G | CA394377074 | TBC1D24 | c.731C>G (p.Ala244Gly) n.913C>G | |
16 | g.2496879C>T | CA7844055 | TBC1D24 | c.731C>T (p.Ala244Val) n.913C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496880G>A | CA7844056 | TBC1D24 | c.732G>A (p.Ala244=) n.914G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496880G>C | CA493366932 | TBC1D24 | c.732G>C (p.Ala244=) n.914G>C | gnomAD v4 COSMIC |
16 | g.2496880G= | CA2202260032 | TBC1D24 | c.732G= (p.Ala244=) n.914G= | |
16 | g.2496880G>T | CA493366933 | TBC1D24 | c.732G>T (p.Ala244=) n.914G>T | |
16 | g.2496881C>A | CA394377077 | TBC1D24 | c.733C>A (p.Leu245Met) n.915C>A | |
16 | g.2496881C>G | CA394377076 | TBC1D24 | c.733C>G (p.Leu245Val) n.915C>G | |
16 | g.2496881C>T | CA493366935 | TBC1D24 | c.733C>T (p.Leu245=) n.915C>T | |
16 | g.2496882T>A | CA394377079 | TBC1D24 | c.734T>A (p.Leu245Gln) n.916T>A | |
16 | g.2496882T>C | CA7844057 | TBC1D24 | c.734T>C (p.Leu245Pro) n.916T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496882T>G | CA394377082 | TBC1D24 | c.734T>G (p.Leu245Arg) n.916T>G | |
16 | g.2496882T= | CA2202260033 | TBC1D24 | c.734T= (p.Leu245=) n.916T= | |
16 | g.2496883G>A | CA276809634 | TBC1D24 | c.735G>A (p.Leu245=) n.917G>A | dbSNP |
16 | g.2496883G>C | CA493366937 | TBC1D24 | c.735G>C (p.Leu245=) n.917G>C | |
16 | g.2496883G= | CA2202260034 | TBC1D24 | c.735G= (p.Leu245=) n.917G= | |
16 | g.2496883G>T | CA493366939 | TBC1D24 | c.735G>T (p.Leu245=) n.917G>T | |
16 | g.2496884G>A | CA394377084 | TBC1D24 | c.736G>A (p.Ala246Thr) n.918G>A | |
16 | g.2496884G>C | CA394377085 | TBC1D24 | c.736G>C (p.Ala246Pro) n.918G>C | |
16 | g.2496884G>T | CA394377087 | TBC1D24 | c.736G>T (p.Ala246Ser) n.918G>T | |
16 | g.2496885C>A | CA394377088 | TBC1D24 | c.737C>A (p.Ala246Asp) n.919C>A | |
16 | g.2496885C>G | CA394377089 | TBC1D24 | c.737C>G (p.Ala246Gly) n.919C>G | |
16 | g.2496885C>T | CA394377090 | TBC1D24 | c.737C>T (p.Ala246Val) n.919C>T | |
16 | g.2496886C>A | CA493366945 | TBC1D24 | c.738C>A (p.Ala246=) n.920C>A | |
16 | g.2496886C>G | CA493366946 | TBC1D24 | c.738C>G (p.Ala246=) n.920C>G | |
16 | g.2496886C>T | CA493366947 | TBC1D24 | c.738C>T (p.Ala246=) n.920C>T | |
16 | g.2496887A>C | CA394377091 | TBC1D24 | c.739A>C (p.Ile247Leu) n.921A>C | |
16 | g.2496887A>G | CA394377093 | TBC1D24 | c.739A>G (p.Ile247Val) n.921A>G | gnomAD v4 |
16 | g.2496887A>T | CA394377094 | TBC1D24 | c.739A>T (p.Ile247Phe) n.921A>T | |
16 | g.2496888T>A | CA394377099 | TBC1D24 | c.740T>A (p.Ile247Asn) n.922T>A | |
16 | g.2496888T>C | CA394377101 | TBC1D24 | c.740T>C (p.Ile247Thr) n.922T>C | gnomAD v4 |
16 | g.2496888T>G | CA394377097 | TBC1D24 | c.740T>G (p.Ile247Ser) n.922T>G | |
16 | g.2496889C>A | CA493366952 | TBC1D24 | c.741C>A (p.Ile247=) n.923C>A | |
16 | g.2496889C= | CA2202260035 | TBC1D24 | c.741C= (p.Ile247=) n.923C= | |
16 | g.2496889C>G | CA394377103 | TBC1D24 | c.741C>G (p.Ile247Met) n.923C>G | |
16 | g.2496889C>T | CA493366954 | TBC1D24 | c.741C>T (p.Ile247=) n.923C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496890C>A | CA394377105 | TBC1D24 | c.742C>A (p.Leu248Ile) n.924C>A | gnomAD v4 |
16 | g.2496890C>G | CA394377106 | TBC1D24 | c.742C>G (p.Leu248Val) n.924C>G | |
16 | g.2496890C>T | CA394377107 | TBC1D24 | c.742C>T (p.Leu248Phe) n.924C>T | |
16 | g.2496891T>A | CA394377111 | TBC1D24 | c.743T>A (p.Leu248His) n.925T>A | |
16 | g.2496891T>C | CA394377112 | TBC1D24 | c.743T>C (p.Leu248Pro) n.925T>C | |
16 | g.2496891T>G | CA394377114 | TBC1D24 | c.743T>G (p.Leu248Arg) n.925T>G | COSMIC |
16 | g.2496892C>A | CA493367106 | TBC1D24 | c.744C>A (p.Leu248=) n.926C>A | |
16 | g.2496892C>G | CA493367107 | TBC1D24 | c.744C>G (p.Leu248=) n.926C>G | |
16 | g.2496892C>T | CA493367108 | TBC1D24 | c.744C>T (p.Leu248=) n.926C>T | |
16 | g.2496893A= | CA2202260036 | TBC1D24 | c.745A= (p.Lys249=) n.927A= | |
16 | g.2496893A>C | CA394377118 | TBC1D24 | c.745A>C (p.Lys249Gln) n.927A>C | |
16 | g.2496893A>G | CA394377121 | TBC1D24 | c.745A>G (p.Lys249Glu) n.927A>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496893A>T | CA394377120 | TBC1D24 | c.745A>T (p.Lys249Ter) n.927A>T | |
16 | g.2496894A>C | CA394377124 | TBC1D24 | c.746A>C (p.Lys249Thr) n.928A>C | |
16 | g.2496894A>G | CA394377126 | TBC1D24 | c.746A>G (p.Lys249Arg) n.928A>G | |
16 | g.2496894A>T | CA394377128 | TBC1D24 | c.746A>T (p.Lys249Met) n.928A>T | ClinVar |
16 | g.2496895G>A | CA493367109 | TBC1D24 | c.747G>A (p.Lys249=) n.929G>A | |
16 | g.2496895G>C | CA394377130 | TBC1D24 | c.747G>C (p.Lys249Asn) n.929G>C | |
16 | g.2496895G>T | CA394377131 | TBC1D24 | c.747G>T (p.Lys249Asn) n.929G>T | |
16 | g.2496896T>A | CA394377133 | TBC1D24 | c.748T>A (p.Phe250Ile) n.930T>A | |
16 | g.2496896T>C | CA394377137 | TBC1D24 | c.748T>C (p.Phe250Leu) n.930T>C | |
16 | g.2496896T>G | CA394377135 | TBC1D24 | c.748T>G (p.Phe250Val) n.930T>G | |
16 | g.2496897T>A | CA394377139 | TBC1D24 | c.749T>A (p.Phe250Tyr) n.931T>A | |
16 | g.2496897T>C | CA394377141 | TBC1D24 | c.749T>C (p.Phe250Ser) n.931T>C | |
16 | g.2496897T>G | CA394377143 | TBC1D24 | c.749T>G (p.Phe250Cys) n.931T>G | |
16 | g.2496898C>A | CA394377144 | TBC1D24 | c.750C>A (p.Phe250Leu) n.932C>A | gnomAD v4 |
16 | g.2496898C= | CA2202260037 | TBC1D24 | c.750C= (p.Phe250=) n.932C= | |
16 | g.2496898C>G | CA7844058 | TBC1D24 | c.750C>G (p.Phe250Leu) n.932C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496898C>T | CA493367110 | TBC1D24 | c.750C>T (p.Phe250=) n.932C>T | |
16 | g.2496898_2496899delinsCT | CA2202260038 | TBC1D24 | c.750_751delinsCT (p.Phe250=) n.932_933delinsCT |