14 | g.49621944A>C | CA389619845 | MGAT2 | c.676A>C (p.Lys226Gln)
| |
14 | g.49621944A>G | CA389619846 | MGAT2 | c.676A>G (p.Lys226Glu)
| gnomAD v4 |
14 | g.49621944A>T | CA389619848 | MGAT2 | c.676A>T (p.Lys226Ter)
| |
14 | g.49621945A= | CA2135804750 | MGAT2 | c.677A= (p.Lys226=)
| |
14 | g.49621945A>C | CA389619852 | MGAT2 | c.677A>C (p.Lys226Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.49621945A>G | CA389619855 | MGAT2 | c.677A>G (p.Lys226Arg)
| dbSNP gnomAD v3 gnomAD v4 |
14 | g.49621945A>T | CA389619853 | MGAT2 | c.677A>T (p.Lys226Ile)
| gnomAD v4 |
14 | g.49621946A>C | CA389619858 | MGAT2 | c.678A>C (p.Lys226Asn)
| |
14 | g.49621946A>G | CA486349750 | MGAT2 | c.678A>G (p.Lys226=)
| |
14 | g.49621946A>T | CA389619860 | MGAT2 | c.678A>T (p.Lys226Asn)
| COSMIC |
14 | g.49621947T>A | CA389619862 | MGAT2 | c.679T>A (p.Phe227Ile)
| |
14 | g.49621947T>C | CA389619867 | MGAT2 | c.679T>C (p.Phe227Leu)
| |
14 | g.49621947T>G | CA389619864 | MGAT2 | c.679T>G (p.Phe227Val)
| |
14 | g.49621948T>A | CA389619870 | MGAT2 | c.680T>A (p.Phe227Tyr)
| |
14 | g.49621948T>C | CA389619875 | MGAT2 | c.680T>C (p.Phe227Ser)
| |
14 | g.49621948T>G | CA389619873 | MGAT2 | c.680T>G (p.Phe227Cys)
| |
14 | g.49621949C>A | CA389619877 | MGAT2 | c.681C>A (p.Phe227Leu)
| |
14 | g.49621949C>G | CA389619879 | MGAT2 | c.681C>G (p.Phe227Leu)
| |
14 | g.49621949C>T | CA486349754 | MGAT2 | c.681C>T (p.Phe227=)
| |
14 | g.49621950T>A | CA389619882 | MGAT2 | c.682T>A (p.Ser228Thr)
| |
14 | g.49621950T>C | CA389619885 | MGAT2 | c.682T>C (p.Ser228Pro)
| |
14 | g.49621950T>G | CA389619887 | MGAT2 | c.682T>G (p.Ser228Ala)
| |
14 | g.49621951C>A | CA389619890 | MGAT2 | c.683C>A (p.Ser228Tyr)
| |
14 | g.49621951C= | CA2135804751 | MGAT2 | c.683C= (p.Ser228=)
| |
14 | g.49621951C>G | CA389619892 | MGAT2 | c.683C>G (p.Ser228Cys)
| |
14 | g.49621951C>T | CA260660759 | MGAT2 | c.683C>T (p.Ser228Phe)
| dbSNP |
14 | g.49621952C>A | CA486349757 | MGAT2 | c.684C>A (p.Ser228=)
| |
14 | g.49621952C= | CA2135804752 | MGAT2 | c.684C= (p.Ser228=)
| |
14 | g.49621952C>G | CA486349758 | MGAT2 | c.684C>G (p.Ser228=)
| |
14 | g.49621952C>T | CA486349761 | MGAT2 | c.684C>T (p.Ser228=)
| dbSNP gnomAD v2 |
14 | g.49621952_49621956delinsCCAGA | CA2135804753 | MGAT2 | c.684_688delinsCCAGA (p.Ser228=)
| |
14 | g.49621953C>A | CA389619894 | MGAT2 | c.685C>A (p.Gln229Lys)
| |
14 | g.49621953C>G | CA389619897 | MGAT2 | c.685C>G (p.Gln229Glu)
| |
14 | g.49621953C>T | CA389619898 | MGAT2 | c.685C>T (p.Gln229Ter)
| |
14 | g.49621954_49621957del | CA2135804754 | MGAT2 | c.686_689del (p.Gln229ProfsTer16)
| dbSNP |
14 | g.49621954A= | CA2135804755 | MGAT2 | c.686A= (p.Gln229=)
| |
14 | g.49621954A>C | CA389619901 | MGAT2 | c.686A>C (p.Gln229Pro)
| |
14 | g.49621954A>G | CA389619905 | MGAT2 | c.686A>G (p.Gln229Arg)
| dbSNP gnomAD v2 gnomAD v4 |
14 | g.49621954A>T | CA389619903 | MGAT2 | c.686A>T (p.Gln229Leu)
| |
14 | g.49621955G>A | CA486349762 | MGAT2 | c.687G>A (p.Gln229=)
| |
14 | g.49621955G>C | CA389619907 | MGAT2 | c.687G>C (p.Gln229His)
| gnomAD v4 |
14 | g.49621955G= | CA2135804756 | MGAT2 | c.687G= (p.Gln229=)
| |
14 | g.49621955G>T | CA389619910 | MGAT2 | c.687G>T (p.Gln229His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.49621956A= | CA2135804757 | MGAT2 | c.688A= (p.Thr230=)
| |
14 | g.49621956A>C | CA389619912 | MGAT2 | c.688A>C (p.Thr230Pro)
| ClinVar dbSNP gnomAD v4 |
14 | g.49621956A>G | CA389619914 | MGAT2 | c.688A>G (p.Thr230Ala)
| |
14 | g.49621956A>T | CA389619917 | MGAT2 | c.688A>T (p.Thr230Ser)
| |
14 | g.49621957C>A | CA389619920 | MGAT2 | c.689C>A (p.Thr230Asn)
| |
14 | g.49621957C>G | CA389619922 | MGAT2 | c.689C>G (p.Thr230Ser)
| |
14 | g.49621957C>T | CA389619924 | MGAT2 | c.689C>T (p.Thr230Ile)
| |
14 | g.49621958C>A | CA486349770 | MGAT2 | c.690C>A (p.Thr230=)
| |
14 | g.49621958C>G | CA486349771 | MGAT2 | c.690C>G (p.Thr230=)
| |
14 | g.49621958C>T | CA486349769 | MGAT2 | c.690C>T (p.Thr230=)
| |
14 | g.49621959A>C | CA389619929 | MGAT2 | c.691A>C (p.Lys231Gln)
| |
14 | g.49621959A>G | CA389619931 | MGAT2 | c.691A>G (p.Lys231Glu)
| |
14 | g.49621959A>T | CA389619927 | MGAT2 | c.691A>T (p.Lys231Ter)
| |
14 | g.49621961dup | CA486349772 | MGAT2 | c.693dup (p.His232ThrfsTer?)
| COSMIC |
14 | g.49621960A>C | CA389619934 | MGAT2 | c.692A>C (p.Lys231Thr)
| |
14 | g.49621960A>G | CA389619936 | MGAT2 | c.692A>G (p.Lys231Arg)
| |
14 | g.49621960A>T | CA389619939 | MGAT2 | c.692A>T (p.Lys231Ile)
| |
14 | g.49621961A>C | CA389619941 | MGAT2 | c.693A>C (p.Lys231Asn)
| |
14 | g.49621961A>G | CA486349775 | MGAT2 | c.693A>G (p.Lys231=)
| |
14 | g.49621961A>T | CA389619942 | MGAT2 | c.693A>T (p.Lys231Asn)
| |
14 | g.49621962C>A | CA389619948 | MGAT2 | c.694C>A (p.His232Asn)
| |
14 | g.49621962C>G | CA389619944 | MGAT2 | c.694C>G (p.His232Asp)
| |
14 | g.49621962C>T | CA389619945 | MGAT2 | c.694C>T (p.His232Tyr)
| gnomAD v3 gnomAD v4 |
14 | g.49621963A= | CA2135804758 | MGAT2 | c.695A= (p.His232=)
| |
14 | g.49621963A>C | CA389619950 | MGAT2 | c.695A>C (p.His232Pro)
| COSMIC |
14 | g.49621963A>G | CA389619952 | MGAT2 | c.695A>G (p.His232Arg)
| dbSNP gnomAD v2 |
14 | g.49621963A>T | CA389619953 | MGAT2 | c.695A>T (p.His232Leu)
| |
14 | g.49621964T>A | CA389619954 | MGAT2 | c.696T>A (p.His232Gln)
| |
14 | g.49621964T>C | CA486349779 | MGAT2 | c.696T>C (p.His232=)
| |
14 | g.49621964T>G | CA389619956 | MGAT2 | c.696T>G (p.His232Gln)
| |
14 | g.49621965C>A | CA389619958 | MGAT2 | c.697C>A (p.His233Asn)
| |
14 | g.49621965C>G | CA389619963 | MGAT2 | c.697C>G (p.His233Asp)
| |
14 | g.49621965C>T | CA389619960 | MGAT2 | c.697C>T (p.His233Tyr)
| |
14 | g.49621966A= | CA2135804759 | MGAT2 | c.698A= (p.His233=)
| |
14 | g.49621966A>C | CA389619965 | MGAT2 | c.698A>C (p.His233Pro)
| |
14 | g.49621966A>G | CA260660763 | MGAT2 | c.698A>G (p.His233Arg)
| dbSNP gnomAD v3 gnomAD v4 |
14 | g.49621966A>T | CA389619969 | MGAT2 | c.698A>T (p.His233Leu)
| |
14 | g.49621967C>A | CA389619972 | MGAT2 | c.699C>A (p.His233Gln)
| |
14 | g.49621967C>G | CA389619973 | MGAT2 | c.699C>G (p.His233Gln)
| |
14 | g.49621967C>T | CA486349783 | MGAT2 | c.699C>T (p.His233=)
| gnomAD v4 |
14 | g.49621968T>A | CA389619976 | MGAT2 | c.700T>A (p.Trp234Arg)
| |
14 | g.49621968T>C | CA389619979 | MGAT2 | c.700T>C (p.Trp234Arg)
| |
14 | g.49621968T>G | CA389619980 | MGAT2 | c.700T>G (p.Trp234Gly)
| |
14 | g.49621969G>A | CA389619982 | MGAT2 | c.701G>A (p.Trp234Ter)
| gnomAD v4 |
14 | g.49621969G>C | CA389619984 | MGAT2 | c.701G>C (p.Trp234Ser)
| |
14 | g.49621969G>T | CA389619986 | MGAT2 | c.701G>T (p.Trp234Leu)
| |
14 | g.49621970G>A | CA389619990 | MGAT2 | c.702G>A (p.Trp234Ter)
| |
14 | g.49621970G>C | CA389619991 | MGAT2 | c.702G>C (p.Trp234Cys)
| |
14 | g.49621970G>T | CA389619988 | MGAT2 | c.702G>T (p.Trp234Cys)
| |
14 | g.49621971T>A | CA389619996 | MGAT2 | c.703T>A (p.Trp235Arg)
| |
14 | g.49621971T>C | CA389619993 | MGAT2 | c.703T>C (p.Trp235Arg)
| |
14 | g.49621971T>G | CA389619995 | MGAT2 | c.703T>G (p.Trp235Gly)
| |
14 | g.49621972G>A | CA389619998 | MGAT2 | c.704G>A (p.Trp235Ter)
| COSMIC |
14 | g.49621972G>C | CA389620000 | MGAT2 | c.704G>C (p.Trp235Ser)
| |
14 | g.49621972G>T | CA389620003 | MGAT2 | c.704G>T (p.Trp235Leu)
| |
14 | g.49621973G>A | CA389620013 | MGAT2 | c.705G>A (p.Trp235Ter)
| |
14 | g.49621973G>C | CA389620010 | MGAT2 | c.705G>C (p.Trp235Cys)
| |
14 | g.49621973G>T | CA389620008 | MGAT2 | c.705G>T (p.Trp235Cys)
| |
14 | g.49621974T>A | CA389620015 | MGAT2 | c.706T>A (p.Trp236Arg)
| |
14 | g.49621974T>C | CA389620017 | MGAT2 | c.706T>C (p.Trp236Arg)
| |
14 | g.49621974T>G | CA389620018 | MGAT2 | c.706T>G (p.Trp236Gly)
| |
14 | g.49621975G>A | CA389620020 | MGAT2 | c.707G>A (p.Trp236Ter)
| |
14 | g.49621975G>C | CA389620022 | MGAT2 | c.707G>C (p.Trp236Ser)
| |
14 | g.49621975G>T | CA389620024 | MGAT2 | c.707G>T (p.Trp236Leu)
| |
14 | g.49621976G>A | CA389620026 | MGAT2 | c.708G>A (p.Trp236Ter)
| |
14 | g.49621976G>C | CA389620035 | MGAT2 | c.708G>C (p.Trp236Cys)
| |
14 | g.49621976G>T | CA389620027 | MGAT2 | c.708G>T (p.Trp236Cys)
| |
14 | g.49621977A= | CA2135804760 | MGAT2 | c.709A= (p.Lys237=)
| |
14 | g.49621977A>C | CA389620038 | MGAT2 | c.709A>C (p.Lys237Gln)
| |
14 | g.49621977A>G | CA389620040 | MGAT2 | c.709A>G (p.Lys237Glu)
| gnomAD v4 |
14 | g.49621977A>T | CA389620043 | MGAT2 | c.709A>T (p.Lys237Ter)
| dbSNP gnomAD v2 gnomAD v4 |
14 | g.49621978A>C | CA389620047 | MGAT2 | c.710A>C (p.Lys237Thr)
| |
14 | g.49621978A>G | CA389620049 | MGAT2 | c.710A>G (p.Lys237Arg)
| |
14 | g.49621978A>T | CA389620050 | MGAT2 | c.710A>T (p.Lys237Met)
| |
14 | g.49621979G>A | CA486349797 | MGAT2 | c.711G>A (p.Lys237=)
| dbSNP gnomAD v4 |
14 | g.49621979G>C | CA249931 | MGAT2 | c.711G>C (p.Lys237Asn)
| ClinVar dbSNP |
14 | g.49621979G= | CA2135804761 | MGAT2 | c.711G= (p.Lys237=)
| |
14 | g.49621979G>T | CA389620059 | MGAT2 | c.711G>T (p.Lys237Asn)
| |
14 | g.49621980C>A | CA7172592 | MGAT2 | c.712C>A (p.Leu238Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.49621980C= | CA2135804762 | MGAT2 | c.712C= (p.Leu238=)
| |
14 | g.49621980C>G | CA389620062 | MGAT2 | c.712C>G (p.Leu238Val)
| |
14 | g.49621980C>T | CA486349800 | MGAT2 | c.712C>T (p.Leu238=)
| |
14 | g.49621981T>A | CA389620073 | MGAT2 | c.713T>A (p.Leu238Gln)
| |
14 | g.49621981T>C | CA389620071 | MGAT2 | c.713T>C (p.Leu238Pro)
| gnomAD v4 |
14 | g.49621981T>G | CA389620068 | MGAT2 | c.713T>G (p.Leu238Arg)
| |
14 | g.49621982G>A | CA7172593 | MGAT2 | c.714G>A (p.Leu238=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.49621982G>C | CA486349804 | MGAT2 | c.714G>C (p.Leu238=)
| |
14 | g.49621982G= | CA2135804763 | MGAT2 | c.714G= (p.Leu238=)
| |
14 | g.49621982G>T | CA486349803 | MGAT2 | c.714G>T (p.Leu238=)
| |
14 | g.49621983C>A | CA389620079 | MGAT2 | c.715C>A (p.His239Asn)
| |
14 | g.49621983C= | CA2135804764 | MGAT2 | c.715C= (p.His239=)
| |
14 | g.49621983C>G | CA389620088 | MGAT2 | c.715C>G (p.His239Asp)
| |
14 | g.49621983C>T | CA389620090 | MGAT2 | c.715C>T (p.His239Tyr)
| dbSNP |
14 | g.49621984A>C | CA389620093 | MGAT2 | c.716A>C (p.His239Pro)
| |
14 | g.49621984A>G | CA389620094 | MGAT2 | c.716A>G (p.His239Arg)
| |
14 | g.49621984A>T | CA389620096 | MGAT2 | c.716A>T (p.His239Leu)
| |
14 | g.49621985T>A | CA389620097 | MGAT2 | c.717T>A (p.His239Gln)
| |
14 | g.49621985T>C | CA486349807 | MGAT2 | c.717T>C (p.His239=)
| |
14 | g.49621985T>G | CA389620099 | MGAT2 | c.717T>G (p.His239Gln)
| |
14 | g.49621986T>A | CA389620102 | MGAT2 | c.718T>A (p.Phe240Ile)
| |
14 | g.49621986T>C | CA389620105 | MGAT2 | c.718T>C (p.Phe240Leu)
| |
14 | g.49621986T>G | CA389620108 | MGAT2 | c.718T>G (p.Phe240Val)
| gnomAD v4 |
14 | g.49621987T>A | CA389620110 | MGAT2 | c.719T>A (p.Phe240Tyr)
| |
14 | g.49621987T>C | CA389620116 | MGAT2 | c.719T>C (p.Phe240Ser)
| |
14 | g.49621987T>G | CA389620109 | MGAT2 | c.719T>G (p.Phe240Cys)
| |
14 | g.49621988T>A | CA389620119 | MGAT2 | c.720T>A (p.Phe240Leu)
| |
14 | g.49621988T>C | CA486349811 | MGAT2 | c.720T>C (p.Phe240=)
| |
14 | g.49621988T>G | CA389620124 | MGAT2 | c.720T>G (p.Phe240Leu)
| |
14 | g.49621989G>A | CA389620126 | MGAT2 | c.721G>A (p.Val241Met)
| |
14 | g.49621989G>C | CA389620127 | MGAT2 | c.721G>C (p.Val241Leu)
| |
14 | g.49621989G= | CA2135804765 | MGAT2 | c.721G= (p.Val241=)
| |
14 | g.49621989G>T | CA389620129 | MGAT2 | c.721G>T (p.Val241Leu)
| dbSNP gnomAD v3 gnomAD v4 |
14 | g.49621990T>A | CA389620135 | MGAT2 | c.722T>A (p.Val241Glu)
| |
14 | g.49621990T>C | CA260660767 | MGAT2 | c.722T>C (p.Val241Ala)
| dbSNP |
14 | g.49621990T>G | CA389620133 | MGAT2 | c.722T>G (p.Val241Gly)
| |
14 | g.49621990T= | CA2135804766 | MGAT2 | c.722T= (p.Val241=)
| |
14 | g.49621991G>A | CA486349814 | MGAT2 | c.723G>A (p.Val241=)
| dbSNP |
14 | g.49621991G>C | CA486349815 | MGAT2 | c.723G>C (p.Val241=)
| |
14 | g.49621991G= | CA2135804767 | MGAT2 | c.723G= (p.Val241=)
| |
14 | g.49621991G>T | CA486349816 | MGAT2 | c.723G>T (p.Val241=)
| gnomAD v4 |
14 | g.49621992T>A | CA389620137 | MGAT2 | c.724T>A (p.Trp242Arg)
| |
14 | g.49621992T>C | CA389620140 | MGAT2 | c.724T>C (p.Trp242Arg)
| |
14 | g.49621992T>G | CA389620144 | MGAT2 | c.724T>G (p.Trp242Gly)
| dbSNP |
14 | g.49621992T= | CA2135804768 | MGAT2 | c.724T= (p.Trp242=)
| |
14 | g.49621993G>A | CA389620148 | MGAT2 | c.725G>A (p.Trp242Ter)
| |
14 | g.49621993G>C | CA389620149 | MGAT2 | c.725G>C (p.Trp242Ser)
| |
14 | g.49621993G>T | CA389620151 | MGAT2 | c.725G>T (p.Trp242Leu)
| |
14 | g.49621994G>A | CA389620156 | MGAT2 | c.726G>A (p.Trp242Ter)
| |
14 | g.49621994G>C | CA389620158 | MGAT2 | c.726G>C (p.Trp242Cys)
| |
14 | g.49621994G>T | CA389620153 | MGAT2 | c.726G>T (p.Trp242Cys)
| |
14 | g.49621995G>A | CA389620160 | MGAT2 | c.727G>A (p.Glu243Lys)
| gnomAD v4 |
14 | g.49621995G>C | CA389620159 | MGAT2 | c.727G>C (p.Glu243Gln)
| gnomAD v4 |
14 | g.49621995G>T | CA389620163 | MGAT2 | c.727G>T (p.Glu243Ter)
| |
14 | g.49621996A>C | CA389620165 | MGAT2 | c.728A>C (p.Glu243Ala)
| |
14 | g.49621996A>G | CA389620167 | MGAT2 | c.728A>G (p.Glu243Gly)
| |
14 | g.49621996A>T | CA389620168 | MGAT2 | c.728A>T (p.Glu243Val)
| |
14 | g.49621997A>C | CA389620170 | MGAT2 | c.729A>C (p.Glu243Asp)
| |
14 | g.49621997A>G | CA486349824 | MGAT2 | c.729A>G (p.Glu243=)
| |
14 | g.49621997A>T | CA389620171 | MGAT2 | c.729A>T (p.Glu243Asp)
| |
14 | g.49621998A= | CA2135804769 | MGAT2 | c.730A= (p.Arg244=)
| |
14 | g.49621998A>C | CA486349826 | MGAT2 | c.730A>C (p.Arg244=)
| |
14 | g.49621998A>G | CA260660768 | MGAT2 | c.730A>G (p.Arg244Gly)
| dbSNP gnomAD v4 |
14 | g.49621998A>T | CA389620175 | MGAT2 | c.730A>T (p.Arg244Ter)
| |
14 | g.49621999G>A | CA389620179 | MGAT2 | c.731G>A (p.Arg244Lys)
| gnomAD v4 |
14 | g.49621999G>C | CA389620180 | MGAT2 | c.731G>C (p.Arg244Thr)
| |
14 | g.49621999G>T | CA389620182 | MGAT2 | c.731G>T (p.Arg244Ile)
| |
14 | g.49622000A>C | CA389620184 | MGAT2 | c.732A>C (p.Arg244Ser)
| gnomAD v4 |
14 | g.49622000A>G | CA486349830 | MGAT2 | c.732A>G (p.Arg244=)
| |
14 | g.49622000A>T | CA389620186 | MGAT2 | c.732A>T (p.Arg244Ser)
| |
14 | g.49622001G>A | CA7172594 | MGAT2 | c.733G>A (p.Val245Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
14 | g.49622001G>C | CA221941 | MGAT2 | c.733G>C (p.Val245Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.49622001G= | CA2135804770 | MGAT2 | c.733G= (p.Val245=)
| |
14 | g.49622001G>T | CA389620190 | MGAT2 | c.733G>T (p.Val245Leu)
| COSMIC |
14 | g.49622002T>A | CA389620194 | MGAT2 | c.734T>A (p.Val245Glu)
| |
14 | g.49622002T>C | CA389620196 | MGAT2 | c.734T>C (p.Val245Ala)
| |
14 | g.49622002T>G | CA389620198 | MGAT2 | c.734T>G (p.Val245Gly)
| |
14 | g.49622003G>A | CA486349833 | MGAT2 | c.735G>A (p.Val245=)
| dbSNP |
14 | g.49622003G>C | CA486349834 | MGAT2 | c.735G>C (p.Val245=)
| |
14 | g.49622003G= | CA2135804771 | MGAT2 | c.735G= (p.Val245=)
| |
14 | g.49622003G>T | CA486349835 | MGAT2 | c.735G>T (p.Val245=)
| |
14 | g.49622004A>C | CA389620201 | MGAT2 | c.736A>C (p.Lys246Gln)
| |
14 | g.49622004A>G | CA389620204 | MGAT2 | c.736A>G (p.Lys246Glu)
| |
14 | g.49622004A>T | CA389620207 | MGAT2 | c.736A>T (p.Lys246Ter)
| |
14 | g.49622007dup | CA2624726678 | MGAT2 | c.739dup (p.Ile247AsnfsTer?)
| gnomAD v4 |
14 | g.49622005A>C | CA389620210 | MGAT2 | c.737A>C (p.Lys246Thr)
| |
14 | g.49622005A>G | CA389620211 | MGAT2 | c.737A>G (p.Lys246Arg)
| |
14 | g.49622005A>T | CA389620214 | MGAT2 | c.737A>T (p.Lys246Ile)
| COSMIC |
14 | g.49622006A>C | CA389620219 | MGAT2 | c.738A>C (p.Lys246Asn)
| |
14 | g.49622006A>G | CA486349840 | MGAT2 | c.738A>G (p.Lys246=)
| |
14 | g.49622006A>T | CA389620221 | MGAT2 | c.738A>T (p.Lys246Asn)
| |
14 | g.49622007A>C | CA389620234 | MGAT2 | c.739A>C (p.Ile247Leu)
| |
14 | g.49622007A>G | CA389620237 | MGAT2 | c.739A>G (p.Ile247Val)
| gnomAD v4 |
14 | g.49622007A>T | CA389620226 | MGAT2 | c.739A>T (p.Ile247Phe)
| |
14 | g.49622008T>A | CA389620241 | MGAT2 | c.740T>A (p.Ile247Asn)
| |
14 | g.49622008T>C | CA389620243 | MGAT2 | c.740T>C (p.Ile247Thr)
| |
14 | g.49622008T>G | CA389620245 | MGAT2 | c.740T>G (p.Ile247Ser)
| |
14 | g.49622009T>A | CA486349843 | MGAT2 | c.741T>A (p.Ile247=)
| |
14 | g.49622009T>C | CA486349844 | MGAT2 | c.741T>C (p.Ile247=)
| |
14 | g.49622009T>G | CA389620248 | MGAT2 | c.741T>G (p.Ile247Met)
| |
14 | g.49622010C>A | CA389620251 | MGAT2 | c.742C>A (p.Leu248Ile)
| gnomAD v4 |
14 | g.49622010C>G | CA389620252 | MGAT2 | c.742C>G (p.Leu248Val)
| |
14 | g.49622010C>T | CA389620254 | MGAT2 | c.742C>T (p.Leu248Phe)
| |
14 | g.49622011T>A | CA389620256 | MGAT2 | c.743T>A (p.Leu248His)
| |
14 | g.49622011T>C | CA389620258 | MGAT2 | c.743T>C (p.Leu248Pro)
| |
14 | g.49622011T>G | CA389620259 | MGAT2 | c.743T>G (p.Leu248Arg)
| |
14 | g.49622012T>A | CA486349851 | MGAT2 | c.744T>A (p.Leu248=)
| |
14 | g.49622012T>C | CA486349854 | MGAT2 | c.744T>C (p.Leu248=)
| dbSNP gnomAD v2 gnomAD v4 |
14 | g.49622012T>G | CA486349856 | MGAT2 | c.744T>G (p.Leu248=)
| |
14 | g.49622012T= | CA2135804772 | MGAT2 | c.744T= (p.Leu248=)
| |
14 | g.49622013C>A | CA486349857 | MGAT2 | c.745C>A (p.Arg249=)
| gnomAD v4 |
14 | g.49622013C= | CA2135804773 | MGAT2 | c.745C= (p.Arg249=)
| |
14 | g.49622013C>G | CA389620262 | MGAT2 | c.745C>G (p.Arg249Gly)
| |
14 | g.49622013C>T | CA389620264 | MGAT2 | c.745C>T (p.Arg249Ter)
| ClinVar dbSNP |
14 | g.49622014G>A | CA389620267 | MGAT2 | c.746G>A (p.Arg249Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.49622014G>C | CA389620268 | MGAT2 | c.746G>C (p.Arg249Pro)
| |
14 | g.49622014G= | CA2135804774 | MGAT2 | c.746G= (p.Arg249=)
| |
14 | g.49622014G>T | CA389620266 | MGAT2 | c.746G>T (p.Arg249Leu)
| |
14 | g.49622015A>C | CA486349859 | MGAT2 | c.747A>C (p.Arg249=)
| |
14 | g.49622015A>G | CA486349861 | MGAT2 | c.747A>G (p.Arg249=)
| |
14 | g.49622015A>T | CA486349863 | MGAT2 | c.747A>T (p.Arg249=)
| gnomAD v4 |
14 | g.49622016del | CA2624726679 | MGAT2 | c.748del (p.Asp250IlefsTer9)
| gnomAD v4 |
14 | g.49622016G>A | CA389620274 | MGAT2 | c.748G>A (p.Asp250Asn)
| gnomAD v4 |
14 | g.49622016G>C | CA389620275 | MGAT2 | c.748G>C (p.Asp250His)
| |
14 | g.49622016G>T | CA389620276 | MGAT2 | c.748G>T (p.Asp250Tyr)
| gnomAD v4 |
14 | g.49622017A>C | CA389620277 | MGAT2 | c.749A>C (p.Asp250Ala)
| |
14 | g.49622017A>G | CA389620278 | MGAT2 | c.749A>G (p.Asp250Gly)
| |
14 | g.49622017A>T | CA389620279 | MGAT2 | c.749A>T (p.Asp250Val)
| |
14 | g.49622018T>A | CA389620281 | MGAT2 | c.750T>A (p.Asp250Glu)
| |
14 | g.49622018T>C | CA486349864 | MGAT2 | c.750T>C (p.Asp250=)
| |
14 | g.49622018T>G | CA389620283 | MGAT2 | c.750T>G (p.Asp250Glu)
| |
14 | g.49622019T>A | CA7172595 | MGAT2 | c.751T>A (p.Tyr251Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.49622019T>C | CA389620286 | MGAT2 | c.751T>C (p.Tyr251His)
| |
14 | g.49622019T>G | CA389620287 | MGAT2 | c.751T>G (p.Tyr251Asp)
| |
14 | g.49622019T= | CA2135804775 | MGAT2 | c.751T= (p.Tyr251=)
| |
14 | g.49622020A= | CA2135804776 | MGAT2 | c.752A= (p.Tyr251=)
| |
14 | g.49622020A>C | CA389620290 | MGAT2 | c.752A>C (p.Tyr251Ser)
| gnomAD v4 |
14 | g.49622020A>G | CA389620291 | MGAT2 | c.752A>G (p.Tyr251Cys)
| |
14 | g.49622020A>T | CA389620293 | MGAT2 | c.752A>T (p.Tyr251Phe)
| |
14 | g.49622021T>A | CA389620297 | MGAT2 | c.753T>A (p.Tyr251Ter)
| |
14 | g.49622021T>C | CA486349869 | MGAT2 | c.753T>C (p.Tyr251=)
| gnomAD v4 |
14 | g.49622021T>G | CA389620295 | MGAT2 | c.753T>G (p.Tyr251Ter)
| |
14 | g.49622021dup | CA913190931 | MGAT2 | c.753dup (p.Ala252CysfsTer?)
| ClinVar dbSNP |
14 | g.49622022G>A | CA389620300 | MGAT2 | c.754G>A (p.Ala252Thr)
| |
14 | g.49622022G>C | CA389620308 | MGAT2 | c.754G>C (p.Ala252Pro)
| |
14 | g.49622022G>T | CA389620302 | MGAT2 | c.754G>T (p.Ala252Ser)
| |
14 | g.49622023C>A | CA7172596 | MGAT2 | c.755C>A (p.Ala252Asp)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
14 | g.49622023C= | CA2135804777 | MGAT2 | c.755C= (p.Ala252=)
| |
14 | g.49622023C>G | CA389620312 | MGAT2 | c.755C>G (p.Ala252Gly)
| |
14 | g.49622023C>T | CA389620315 | MGAT2 | c.755C>T (p.Ala252Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.49622024T>A | CA486349875 | MGAT2 | c.756T>A (p.Ala252=)
| |
14 | g.49622024T>C | CA486349877 | MGAT2 | c.756T>C (p.Ala252=)
| |
14 | g.49622024T>G | CA486349876 | MGAT2 | c.756T>G (p.Ala252=)
| |
14 | g.49622025G>A | CA389620319 | MGAT2 | c.757G>A (p.Gly253Ser)
| |
14 | g.49622025G>C | CA389620321 | MGAT2 | c.757G>C (p.Gly253Arg)
| |
14 | g.49622025G>T | CA389620323 | MGAT2 | c.757G>T (p.Gly253Cys)
| |
14 | g.49622026G>A | CA389620327 | MGAT2 | c.758G>A (p.Gly253Asp)
| |
14 | g.49622026G>C | CA389620328 | MGAT2 | c.758G>C (p.Gly253Ala)
| gnomAD v4 |
14 | g.49622026G>T | CA389620329 | MGAT2 | c.758G>T (p.Gly253Val)
| |
14 | g.49622027C>A | CA486349882 | MGAT2 | c.759C>A (p.Gly253=)
| |
14 | g.49622027C>G | CA486349881 | MGAT2 | c.759C>G (p.Gly253=)
| |
14 | g.49622027C>T | CA486349880 | MGAT2 | c.759C>T (p.Gly253=)
| |
14 | g.49622028C>A | CA389620332 | MGAT2 | c.760C>A (p.Leu254Ile)
| |
14 | g.49622028C= | CA2135804778 | MGAT2 | c.760C= (p.Leu254=)
| |
14 | g.49622028C>G | CA389620335 | MGAT2 | c.760C>G (p.Leu254Val)
| |
14 | g.49622028C>T | CA389620338 | MGAT2 | c.760C>T (p.Leu254Phe)
| dbSNP gnomAD v3 gnomAD v4 |
14 | g.49622029T>A | CA389620343 | MGAT2 | c.761T>A (p.Leu254His)
| |
14 | g.49622029T>C | CA389620342 | MGAT2 | c.761T>C (p.Leu254Pro)
| |
14 | g.49622029T>G | CA389620340 | MGAT2 | c.761T>G (p.Leu254Arg)
| |
14 | g.49622030T>A | CA486349886 | MGAT2 | c.762T>A (p.Leu254=)
| |
14 | g.49622030T>C | CA486349890 | MGAT2 | c.762T>C (p.Leu254=)
| |
14 | g.49622030T>G | CA486349888 | MGAT2 | c.762T>G (p.Leu254=)
| |
14 | g.49622031A>C | CA389620346 | MGAT2 | c.763A>C (p.Ile255Leu)
| |
14 | g.49622031A>G | CA389620348 | MGAT2 | c.763A>G (p.Ile255Val)
| dbSNP |
14 | g.49622031A>T | CA389620349 | MGAT2 | c.763A>T (p.Ile255Leu)
| gnomAD v4 |
14 | g.49622032T>A | CA389620352 | MGAT2 | c.764T>A (p.Ile255Lys)
| |
14 | g.49622032T>C | CA7172597 | MGAT2 | c.764T>C (p.Ile255Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.49622032T>G | CA389620354 | MGAT2 | c.764T>G (p.Ile255Arg)
| |
14 | g.49622032T= | CA2135804779 | MGAT2 | c.764T= (p.Ile255=)
| |
14 | g.49622033A= | CA2135804780 | MGAT2 | c.765A= (p.Ile255=)
| |
14 | g.49622033A>C | CA486349897 | MGAT2 | c.765A>C (p.Ile255=)
| |
14 | g.49622033A>G | CA7172598 | MGAT2 | c.765A>G (p.Ile255Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.49622033A>T | CA486349899 | MGAT2 | c.765A>T (p.Ile255=)
| |
14 | g.49622034_49622044del | CA2624726680 | MGAT2 | c.766_776del (p.Leu256ArgfsTer26)
| gnomAD v4 |
14 | g.49622034C>A | CA389620358 | MGAT2 | c.766C>A (p.Leu256Ile)
| |
14 | g.49622034C= | CA2135804781 | MGAT2 | c.766C= (p.Leu256=)
| |
14 | g.49622034C>G | CA7172599 | MGAT2 | c.766C>G (p.Leu256Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.49622034C>T | CA389620360 | MGAT2 | c.766C>T (p.Leu256Phe)
| gnomAD v4 |
14 | g.49622035T>A | CA389620362 | MGAT2 | c.767T>A (p.Leu256His)
| |
14 | g.49622035T>C | CA389620363 | MGAT2 | c.767T>C (p.Leu256Pro)
| |
14 | g.49622035T>G | CA389620365 | MGAT2 | c.767T>G (p.Leu256Arg)
| |
14 | g.49622038dup | CA2135804782 | MGAT2 | c.770dup (p.Leu258ProfsTer28)
| dbSNP |
14 | g.49622036T>A | CA486349904 | MGAT2 | c.768T>A (p.Leu256=)
| |
14 | g.49622036T>C | CA486349906 | MGAT2 | c.768T>C (p.Leu256=)
| |
14 | g.49622036T>G | CA7172600 | MGAT2 | c.768T>G (p.Leu256=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.49622036T= | CA2135804783 | MGAT2 | c.768T= (p.Leu256=)
| |
14 | g.49622037T>A | CA389620372 | MGAT2 | c.769T>A (p.Phe257Ile)
| |
14 | g.49622037T>C | CA389620368 | MGAT2 | c.769T>C (p.Phe257Leu)
| dbSNP gnomAD v3 gnomAD v4 |
14 | g.49622037T>G | CA389620370 | MGAT2 | c.769T>G (p.Phe257Val)
| |
14 | g.49622037T= | CA2135804784 | MGAT2 | c.769T= (p.Phe257=)
| |
14 | g.49622038T>A | CA389620373 | MGAT2 | c.770T>A (p.Phe257Tyr)
| |
14 | g.49622038T>C | CA389620374 | MGAT2 | c.770T>C (p.Phe257Ser)
| |
14 | g.49622038T>G | CA389620377 | MGAT2 | c.770T>G (p.Phe257Cys)
| |
14 | g.49622039C>A | CA389620379 | MGAT2 | c.771C>A (p.Phe257Leu)
| |
14 | g.49622039C>G | CA389620381 | MGAT2 | c.771C>G (p.Phe257Leu)
| |
14 | g.49622039C>T | CA486349912 | MGAT2 | c.771C>T (p.Phe257=)
| COSMIC |
14 | g.49622040C>A | CA389620383 | MGAT2 | c.772C>A (p.Leu258Ile)
| |
14 | g.49622040C= | CA2135804785 | MGAT2 | c.772C= (p.Leu258=)
| |
14 | g.49622040C>G | CA389620385 | MGAT2 | c.772C>G (p.Leu258Val)
| dbSNP gnomAD v2 gnomAD v4 |
14 | g.49622040C>T | CA486349913 | MGAT2 | c.772C>T (p.Leu258=)
| gnomAD v4 |
14 | g.49622041T>A | CA389620387 | MGAT2 | c.773T>A (p.Leu258Gln)
| |
14 | g.49622041T>C | CA389620389 | MGAT2 | c.773T>C (p.Leu258Pro)
| gnomAD v4 |
14 | g.49622041T>G | CA389620391 | MGAT2 | c.773T>G (p.Leu258Arg)
| dbSNP gnomAD v2 |
14 | g.49622041T= | CA2135804786 | MGAT2 | c.773T= (p.Leu258=)
| |
14 | g.49622042A>C | CA486349918 | MGAT2 | c.774A>C (p.Leu258=)
| |
14 | g.49622042A>G | CA486349921 | MGAT2 | c.774A>G (p.Leu258=)
| |
14 | g.49622042A>T | CA486349923 | MGAT2 | c.774A>T (p.Leu258=)
| |
14 | g.49622043G>A | CA389620395 | MGAT2 | c.775G>A (p.Glu259Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.49622043G>C | CA389620396 | MGAT2 | c.775G>C (p.Glu259Gln)
| |
14 | g.49622043G= | CA2135804787 | MGAT2 | c.775G= (p.Glu259=)
| |
14 | g.49622043G>T | CA389620393 | MGAT2 | c.775G>T (p.Glu259Ter)
| |
14 | g.49622044A>C | CA389620399 | MGAT2 | c.776A>C (p.Glu259Ala)
| |
14 | g.49622044A>G | CA389620401 | MGAT2 | c.776A>G (p.Glu259Gly)
| |
14 | g.49622044A>T | CA389620403 | MGAT2 | c.776A>T (p.Glu259Val)
| |