6 | g.49457726dup | CA450608750 | MMUT | c.721dup (p.Ile241AsnfsTer4)
| |
6 | g.49457724T>A | CA364403838 | MMUT | c.720A>T (p.Lys240Asn)
| |
6 | g.49457724T>C | CA450608751 | MMUT | c.720A>G (p.Lys240=)
| |
6 | g.49457724T>G | CA364403844 | MMUT | c.720A>C (p.Lys240Asn)
| |
6 | g.49457725T>A | CA364403847 | MMUT | c.719A>T (p.Lys240Ile)
| gnomAD v4 |
6 | g.49457725T>C | CA364403850 | MMUT | c.719A>G (p.Lys240Arg)
| |
6 | g.49457725T>G | CA364403852 | MMUT | c.719A>C (p.Lys240Thr)
| |
6 | g.49457726T>A | CA364403855 | MMUT | c.718A>T (p.Lys240Ter)
| |
6 | g.49457726T>C | CA138799490 | MMUT | c.718A>G (p.Lys240Glu)
| dbSNP gnomAD v4 |
6 | g.49457726T>G | CA364403858 | MMUT | c.718A>C (p.Lys240Gln)
| |
6 | g.49457726T= | CA1627392073 | MMUT | c.718A= (p.Lys240=)
| |
6 | g.49457726_49457727insAA | CA2695206680 | MMUT | c.717_718insTT (p.Lys240LeufsTer?)
| |
6 | g.49457727C>A | CA364403884 | MMUT | c.717G>T (p.Met239Ile)
| |
6 | g.49457727C>G | CA364403880 | MMUT | c.717G>C (p.Met239Ile)
| |
6 | g.49457727C>T | CA364403868 | MMUT | c.717G>A (p.Met239Ile)
| |
6 | g.49457728A>C | CA364403896 | MMUT | c.716T>G (p.Met239Arg)
| |
6 | g.49457728A>G | CA364403904 | MMUT | c.716T>C (p.Met239Thr)
| |
6 | g.49457728A>T | CA364403906 | MMUT | c.716T>A (p.Met239Lys)
| |
6 | g.49457732_49457735del | CA2679046695 | MMUT | c.713_716del (p.Ser238Ter)
| gnomAD v4 |
6 | g.49457729T>A | CA364403910 | MMUT | c.715A>T (p.Met239Leu)
| |
6 | g.49457729T>C | CA138799498 | MMUT | c.715A>G (p.Met239Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457729T>G | CA364403911 | MMUT | c.715A>C (p.Met239Leu)
| |
6 | g.49457729T= | CA1627392074 | MMUT | c.715A= (p.Met239=)
| |
6 | g.49457730G>A | CA450608753 | MMUT | c.714C>T (p.Ser238=)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
6 | g.49457730G>C | CA450608754 | MMUT | c.714C>G (p.Ser238=)
| ClinVar dbSNP |
6 | g.49457730G= | CA1627392075 | MMUT | c.714C= (p.Ser238=)
| |
6 | g.49457730G>T | CA450608752 | MMUT | c.714C>A (p.Ser238=)
| |
6 | g.49457731G>A | CA364403913 | MMUT | c.713C>T (p.Ser238Phe)
| |
6 | g.49457731G>C | CA364403915 | MMUT | c.713C>G (p.Ser238Cys)
| |
6 | g.49457731G= | CA1627392076 | MMUT | c.713C= (p.Ser238=)
| |
6 | g.49457731G>T | CA364403917 | MMUT | c.713C>A (p.Ser238Tyr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457732A= | CA1627392077 | MMUT | c.712T= (p.Ser238=)
| |
6 | g.49457732A>C | CA364403920 | MMUT | c.712T>G (p.Ser238Ala)
| |
6 | g.49457732A>G | CA138799507 | MMUT | c.712T>C (p.Ser238Pro)
| dbSNP |
6 | g.49457732A>T | CA364403923 | MMUT | c.712T>A (p.Ser238Thr)
| |
6 | g.49457733T>A | CA450608756 | MMUT | c.711A>T (p.Pro237=)
| |
6 | g.49457733T>C | CA312760 | MMUT | c.711A>G (p.Pro237=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457733T>G | CA450608755 | MMUT | c.711A>C (p.Pro237=)
| |
6 | g.49457733T= | CA1627392078 | MMUT | c.711A= (p.Pro237=)
| |
6 | g.49457734G>A | CA364403932 | MMUT | c.710C>T (p.Pro237Leu)
| |
6 | g.49457734G>C | CA364403927 | MMUT | c.710C>G (p.Pro237Arg)
| |
6 | g.49457734G>T | CA364403929 | MMUT | c.710C>A (p.Pro237Gln)
| gnomAD v4 |
6 | g.49457735G>A | CA364403934 | MMUT | c.709C>T (p.Pro237Ser)
| dbSNP |
6 | g.49457735G>C | CA364403935 | MMUT | c.709C>G (p.Pro237Ala)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49457735G= | CA1627392079 | MMUT | c.709C= (p.Pro237=)
| |
6 | g.49457735G>T | CA364403938 | MMUT | c.709C>A (p.Pro237Thr)
| |
6 | g.49457736T>A | CA364403940 | MMUT | c.708A>T (p.Glu236Asp)
| dbSNP |
6 | g.49457736T>C | CA450608757 | MMUT | c.708A>G (p.Glu236=)
| gnomAD v4 |
6 | g.49457736T>G | CA364403941 | MMUT | c.708A>C (p.Glu236Asp)
| dbSNP |
6 | g.49457736T= | CA1627392080 | MMUT | c.708A= (p.Glu236=)
| |
6 | g.49457737T>A | CA364403943 | MMUT | c.707A>T (p.Glu236Val)
| |
6 | g.49457737T>C | CA364403945 | MMUT | c.707A>G (p.Glu236Gly)
| |
6 | g.49457737T>G | CA364403950 | MMUT | c.707A>C (p.Glu236Ala)
| |
6 | g.49457738C>A | CA364403951 | MMUT | c.706G>T (p.Glu236Ter)
| ClinVar dbSNP |
6 | g.49457738C= | CA1627392081 | MMUT | c.706G= (p.Glu236=)
| |
6 | g.49457738C>G | CA364403953 | MMUT | c.706G>C (p.Glu236Gln)
| |
6 | g.49457738C>T | CA364403959 | MMUT | c.706G>A (p.Glu236Lys)
| gnomAD v4 |
6 | g.49457739T>A | CA450608758 | MMUT | c.705A>T (p.Pro235=)
| |
6 | g.49457739T>C | CA138799525 | MMUT | c.705A>G (p.Pro235=)
| dbSNP |
6 | g.49457739T>G | CA450608759 | MMUT | c.705A>C (p.Pro235=)
| |
6 | g.49457739T= | CA1627392082 | MMUT | c.705A= (p.Pro235=)
| |
6 | g.49457740G>A | CA364403965 | MMUT | c.704C>T (p.Pro235Leu)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49457740G>C | CA364403962 | MMUT | c.704C>G (p.Pro235Arg)
| |
6 | g.49457740G= | CA1627392083 | MMUT | c.704C= (p.Pro235=)
| |
6 | g.49457740G>T | CA364403960 | MMUT | c.704C>A (p.Pro235Gln)
| |
6 | g.49457741G>A | CA364403974 | MMUT | c.703C>T (p.Pro235Ser)
| dbSNP |
6 | g.49457741G>C | CA364403981 | MMUT | c.703C>G (p.Pro235Ala)
| gnomAD v4 |
6 | g.49457741G= | CA1627392084 | MMUT | c.703C= (p.Pro235=)
| |
6 | g.49457741G>T | CA364403983 | MMUT | c.703C>A (p.Pro235Thr)
| |
6 | g.49457742A>C | CA450608760 | MMUT | c.702T>G (p.Pro234=)
| |
6 | g.49457742A>G | CA450608762 | MMUT | c.702T>C (p.Pro234=)
| |
6 | g.49457742A>T | CA450608761 | MMUT | c.702T>A (p.Pro234=)
| |
6 | g.49457743G>A | CA364403985 | MMUT | c.701C>T (p.Pro234Leu)
| |
6 | g.49457743G>C | CA364403988 | MMUT | c.701C>G (p.Pro234Arg)
| |
6 | g.49457743G>T | CA364403990 | MMUT | c.701C>A (p.Pro234His)
| |
6 | g.49457744G>A | CA364404008 | MMUT | c.700C>T (p.Pro234Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.49457744G>C | CA364403995 | MMUT | c.700C>G (p.Pro234Ala)
| |
6 | g.49457744G= | CA1627392085 | MMUT | c.700C= (p.Pro234=)
| |
6 | g.49457744G>T | CA364403998 | MMUT | c.700C>A (p.Pro234Thr)
| |
6 | g.49457744_49457750delinsAAAAAAG | CA915944262 | MMUT | c.694_700delinsCTTTTTT (p.Ile232_Pro234delinsLeuPheSer)
| ClinVar dbSNP |
6 | g.49457744_49457750delinsGAAAAAT | CA1627392086 | MMUT | c.694_700delinsATTTTTC (p.Ile232=)
| |
6 | g.49457745A= | CA1627392087 | MMUT | c.699T= (p.Phe233=)
| |
6 | g.49457745A>C | CA364404013 | MMUT | c.699T>G (p.Phe233Leu)
| |
6 | g.49457745A>G | CA450608763 | MMUT | c.699T>C (p.Phe233=)
| dbSNP |
6 | g.49457745A>T | CA364404015 | MMUT | c.699T>A (p.Phe233Leu)
| |
6 | g.49457749dup | CA2578675207 | MMUT | c.699dup (p.Pro234SerfsTer11)
| |
6 | g.49457746A>C | CA364404017 | MMUT | c.698T>G (p.Phe233Cys)
| |
6 | g.49457746A>G | CA364404018 | MMUT | c.698T>C (p.Phe233Ser)
| |
6 | g.49457746A>T | CA364404027 | MMUT | c.698T>A (p.Phe233Tyr)
| |
6 | g.49457747A>C | CA364404031 | MMUT | c.697T>G (p.Phe233Val)
| |
6 | g.49457747A>G | CA364404029 | MMUT | c.697T>C (p.Phe233Leu)
| |
6 | g.49457747A>T | CA364404030 | MMUT | c.697T>A (p.Phe233Ile)
| |
6 | g.49457748A>C | CA364404032 | MMUT | c.696T>G (p.Ile232Met)
| |
6 | g.49457748A>G | CA450608764 | MMUT | c.696T>C (p.Ile232=)
| |
6 | g.49457748A>T | CA450608765 | MMUT | c.696T>A (p.Ile232=)
| |
6 | g.49457749A>C | CA364404034 | MMUT | c.695T>G (p.Ile232Ser)
| |
6 | g.49457749A>G | CA364404037 | MMUT | c.695T>C (p.Ile232Thr)
| gnomAD v4 |
6 | g.49457749A>T | CA364404044 | MMUT | c.695T>A (p.Ile232Asn)
| |
6 | g.49457750T>A | CA364404048 | MMUT | c.694A>T (p.Ile232Phe)
| ClinVar dbSNP |
6 | g.49457750T>C | CA364404049 | MMUT | c.694A>G (p.Ile232Val)
| dbSNP |
6 | g.49457750T>G | CA364404050 | MMUT | c.694A>C (p.Ile232Leu)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49457750T= | CA1627392088 | MMUT | c.694A= (p.Ile232=)
| |
6 | g.49457750dup | CA2695206681 | MMUT | c.694dup (p.Ile232AsnfsTer13)
| |
6 | g.49457751_49457752del | CA2695206682 | MMUT | c.693_694del (p.Ile232PhefsTer12)
| |
6 | g.49457751del | CA2695206683 | MMUT | c.693del (p.Tyr231Ter)
| |
6 | g.49457751G>A | CA450608766 | MMUT | c.693C>T (p.Tyr231=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.49457751G>C | CA10575877 | MMUT | c.693C>G (p.Tyr231Ter)
| ClinVar dbSNP |
6 | g.49457751G= | CA1627392089 | MMUT | c.693C= (p.Tyr231=)
| |
6 | g.49457751G>T | CA364404051 | MMUT | c.693C>A (p.Tyr231Ter)
| |
6 | g.49457752T>A | CA364404054 | MMUT | c.692A>T (p.Tyr231Phe)
| gnomAD v4 |
6 | g.49457752T>C | CA364404062 | MMUT | c.692A>G (p.Tyr231Cys)
| dbSNP |
6 | g.49457752T>G | CA364404065 | MMUT | c.692A>C (p.Tyr231Ser)
| dbSNP |
6 | g.49457752T= | CA1627392090 | MMUT | c.692A= (p.Tyr231=)
| |
6 | g.49457752dup | CA3847068 | MMUT | c.692dup (p.Tyr231Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457753A= | CA1627392091 | MMUT | c.691T= (p.Tyr231=)
| |
6 | g.49457753A>C | CA364404070 | MMUT | c.691T>G (p.Tyr231Asp)
| |
6 | g.49457753A>G | CA364404073 | MMUT | c.691T>C (p.Tyr231His)
| |
6 | g.49457753A>T | CA347881 | MMUT | c.691T>A (p.Tyr231Asn)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.49457754T>A | CA450608767 | MMUT | c.690A>T (p.Thr230=)
| dbSNP |
6 | g.49457754T>C | CA450608768 | MMUT | c.690A>G (p.Thr230=)
| ClinVar gnomAD v4 COSMIC |
6 | g.49457754T>G | CA450608769 | MMUT | c.690A>C (p.Thr230=)
| |
6 | g.49457754T= | CA1627392092 | MMUT | c.690A= (p.Thr230=)
| |
6 | g.49457755_49457756del | CA2499218332 | MMUT | c.689_690del (p.Thr230IlefsTer14)
| ClinVar dbSNP |
6 | g.49457755G>A | CA364404076 | MMUT | c.689C>T (p.Thr230Ile)
| ClinVar dbSNP |
6 | g.49457755G>C | CA10575878 | MMUT | c.689C>G (p.Thr230Arg)
| ClinVar dbSNP gnomAD v4 |
6 | g.49457755G= | CA1627392093 | MMUT | c.689C= (p.Thr230=)
| |
6 | g.49457755G>T | CA364404077 | MMUT | c.689C>A (p.Thr230Lys)
| COSMIC |
6 | g.49457756T>A | CA364404079 | MMUT | c.688A>T (p.Thr230Ser)
| |
6 | g.49457756T>C | CA364404082 | MMUT | c.688A>G (p.Thr230Ala)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.49457756T>G | CA364404085 | MMUT | c.688A>C (p.Thr230Pro)
| |
6 | g.49457756T= | CA1627392094 | MMUT | c.688A= (p.Thr230=)
| |
6 | g.49457757A= | CA1627392095 | MMUT | c.687T= (p.Asn229=)
| |
6 | g.49457757A>C | CA364404089 | MMUT | c.687T>G (p.Asn229Lys)
| |
6 | g.49457757A>G | CA3847069 | MMUT | c.687T>C (p.Asn229=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49457757A>T | CA364404104 | MMUT | c.687T>A (p.Asn229Lys)
| gnomAD v4 |
6 | g.49457758T>A | CA364404107 | MMUT | c.686A>T (p.Asn229Ile)
| |
6 | g.49457758T>C | CA364404110 | MMUT | c.686A>G (p.Asn229Ser)
| |
6 | g.49457758T>G | CA364404113 | MMUT | c.686A>C (p.Asn229Thr)
| |
6 | g.49457759T>A | CA364404116 | MMUT | c.685A>T (p.Asn229Tyr)
| |
6 | g.49457759T>C | CA364404114 | MMUT | c.685A>G (p.Asn229Asp)
| |
6 | g.49457759T>G | CA364404115 | MMUT | c.685A>C (p.Asn229His)
| |
6 | g.49457760T>A | CA450608770 | MMUT | c.684A>T (p.Arg228=)
| |
6 | g.49457760T>C | CA450608771 | MMUT | c.684A>G (p.Arg228=)
| |
6 | g.49457760T>G | CA450608772 | MMUT | c.684A>C (p.Arg228=)
| |
6 | g.49457761C>A | CA3847071 | MMUT | c.683G>T (p.Arg228Leu)
| dbSNP ExAC gnomAD v2 |
6 | g.49457761C= | CA1627392096 | MMUT | c.683G= (p.Arg228=)
| |
6 | g.49457761C>G | CA364404118 | MMUT | c.683G>C (p.Arg228Pro)
| |
6 | g.49457761C>T | CA3847070 | MMUT | c.683G>A (p.Arg228Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457762G>A | CA312778 | MMUT | c.682C>T (p.Arg228Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457762G>C | CA364404123 | MMUT | c.682C>G (p.Arg228Gly)
| |
6 | g.49457762G= | CA1627392097 | MMUT | c.682C= (p.Arg228=)
| |
6 | g.49457762G>T | CA450608773 | MMUT | c.682C>A (p.Arg228=)
| |
6 | g.49457763A= | CA1627392098 | MMUT | c.681T= (p.Val227=)
| |
6 | g.49457763A>C | CA450608774 | MMUT | c.681T>G (p.Val227=)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49457763A>G | CA450608776 | MMUT | c.681T>C (p.Val227=)
| |
6 | g.49457763A>T | CA450608775 | MMUT | c.681T>A (p.Val227=)
| |
6 | g.49457764A>C | CA364404127 | MMUT | c.680T>G (p.Val227Gly)
| |
6 | g.49457764A>G | CA364404129 | MMUT | c.680T>C (p.Val227Ala)
| |
6 | g.49457764A>T | CA364404131 | MMUT | c.680T>A (p.Val227Asp)
| |
6 | g.49457765C>A | CA364404135 | MMUT | c.679G>T (p.Val227Phe)
| |
6 | g.49457765C= | CA1627392099 | MMUT | c.679G= (p.Val227=)
| |
6 | g.49457765C>G | CA364404137 | MMUT | c.679G>C (p.Val227Leu)
| |
6 | g.49457765C>T | CA364404139 | MMUT | c.679G>A (p.Val227Ile)
| |
6 | g.49457766dup | CA913110644 | MMUT | c.679dup (p.Val227GlyfsTer18)
| |
6 | g.49457766C>A | CA3847073 | MMUT | c.678G>T (p.Met226Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49457766C= | CA1627392100 | MMUT | c.678G= (p.Met226=)
| |
6 | g.49457766C>G | CA364404144 | MMUT | c.678G>C (p.Met226Ile)
| |
6 | g.49457766C>T | CA364404142 | MMUT | c.678G>A (p.Met226Ile)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49457767_49457774dup | CA3847072 | MMUT | c.671_678dup (p.Val227AsnfsTer16)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49457767A>C | CA364404148 | MMUT | c.677T>G (p.Met226Arg)
| |
6 | g.49457767A>G | CA364404150 | MMUT | c.677T>C (p.Met226Thr)
| |
6 | g.49457767A>T | CA364404153 | MMUT | c.677T>A (p.Met226Lys)
| |
6 | g.49457768T>A | CA364404156 | MMUT | c.676A>T (p.Met226Leu)
| dbSNP |
6 | g.49457768T>C | CA3847074 | MMUT | c.676A>G (p.Met226Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49457768T>G | CA364404161 | MMUT | c.676A>C (p.Met226Leu)
| |
6 | g.49457768T= | CA1627392101 | MMUT | c.676A= (p.Met226=)
| |
6 | g.49457769A= | CA1627392102 | MMUT | c.675T= (p.Phe225=)
| |
6 | g.49457769A>C | CA364404164 | MMUT | c.675T>G (p.Phe225Leu)
| |
6 | g.49457769A>G | CA450608777 | MMUT | c.675T>C (p.Phe225=)
| |
6 | g.49457769A>T | CA364404167 | MMUT | c.675T>A (p.Phe225Leu)
| |
6 | g.49457771dup | CA913110645 | MMUT | c.675dup (p.Met226TyrfsTer19)
| |
6 | g.49457770A>C | CA364404170 | MMUT | c.674T>G (p.Phe225Cys)
| |
6 | g.49457770A>G | CA364404172 | MMUT | c.674T>C (p.Phe225Ser)
| |
6 | g.49457770A>T | CA364404175 | MMUT | c.674T>A (p.Phe225Tyr)
| |
6 | g.49457770_49457775dup | CA658823264 | MMUT | c.669_674dup (p.Glu224_Phe225insLeuGlu)
| ClinVar dbSNP |
6 | g.49457771A>C | CA364404176 | MMUT | c.673T>G (p.Phe225Val)
| |
6 | g.49457771A>G | CA364404177 | MMUT | c.673T>C (p.Phe225Leu)
| |
6 | g.49457771A>T | CA364404178 | MMUT | c.673T>A (p.Phe225Ile)
| |
6 | g.49457772T>A | CA364404181 | MMUT | c.672A>T (p.Glu224Asp)
| |
6 | g.49457772T>C | CA450608778 | MMUT | c.672A>G (p.Glu224=)
| |
6 | g.49457772T>G | CA364404180 | MMUT | c.672A>C (p.Glu224Asp)
| |
6 | g.49457773T>A | CA364404184 | MMUT | c.671A>T (p.Glu224Val)
| |
6 | g.49457773T>C | CA364404187 | MMUT | c.671A>G (p.Glu224Gly)
| |
6 | g.49457773T>G | CA364404201 | MMUT | c.671A>C (p.Glu224Ala)
| COSMIC |
6 | g.49457774C>A | CA364404204 | MMUT | c.670G>T (p.Glu224Ter)
| ClinVar dbSNP gnomAD v4 |
6 | g.49457774C= | CA1627392103 | MMUT | c.670G= (p.Glu224=)
| |
6 | g.49457774C>G | CA364404207 | MMUT | c.670G>C (p.Glu224Gln)
| |
6 | g.49457774C>T | CA364404209 | MMUT | c.670G>A (p.Glu224Lys)
| ClinVar dbSNP gnomAD v4 |
6 | g.49457775C>A | CA364404216 | MMUT | c.669G>T (p.Lys223Asn)
| |
6 | g.49457775C>G | CA364404212 | MMUT | c.669G>C (p.Lys223Asn)
| |
6 | g.49457775C>T | CA450608779 | MMUT | c.669G>A (p.Lys223=)
| ClinVar gnomAD v4 |
6 | g.49457776T>A | CA364404219 | MMUT | c.668A>T (p.Lys223Met)
| |
6 | g.49457776T>C | CA364404220 | MMUT | c.668A>G (p.Lys223Arg)
| |
6 | g.49457776T>G | CA364404221 | MMUT | c.668A>C (p.Lys223Thr)
| |
6 | g.49457777T>A | CA364404224 | MMUT | c.667A>T (p.Lys223Ter)
| |
6 | g.49457777T>C | CA364404226 | MMUT | c.667A>G (p.Lys223Glu)
| |
6 | g.49457777T>G | CA364404229 | MMUT | c.667A>C (p.Lys223Gln)
| |
6 | g.49457778T>A | CA450608782 | MMUT | c.666A>T (p.Leu222=)
| |
6 | g.49457778T>C | CA450608781 | MMUT | c.666A>G (p.Leu222=)
| |
6 | g.49457778T>G | CA450608780 | MMUT | c.666A>C (p.Leu222=)
| |
6 | g.49457779A>C | CA364404231 | MMUT | c.665T>G (p.Leu222Arg)
| |
6 | g.49457779A>G | CA364404235 | MMUT | c.665T>C (p.Leu222Pro)
| |
6 | g.49457779A>T | CA364404233 | MMUT | c.665T>A (p.Leu222Gln)
| |
6 | g.49457780G>A | CA450608783 | MMUT | c.664C>T (p.Leu222=)
| gnomAD v4 |
6 | g.49457780G>C | CA364404237 | MMUT | c.664C>G (p.Leu222Val)
| |
6 | g.49457780G>T | CA364404239 | MMUT | c.664C>A (p.Leu222Ile)
| |
6 | g.49457781T>A | CA450608784 | MMUT | c.663A>T (p.Ile221=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457781T>C | CA364404241 | MMUT | c.663A>G (p.Ile221Met)
| |
6 | g.49457781T>G | CA450608785 | MMUT | c.663A>C (p.Ile221=)
| |
6 | g.49457781T= | CA1627392104 | MMUT | c.663A= (p.Ile221=)
| |
6 | g.49457782del | CA2695206684 | MMUT | c.662del (p.Ile221AsnfsTer2)
| |
6 | g.49457782A= | CA1627392105 | MMUT | c.662T= (p.Ile221=)
| |
6 | g.49457782A>C | CA364404243 | MMUT | c.662T>G (p.Ile221Arg)
| |
6 | g.49457782A>G | CA364404246 | MMUT | c.662T>C (p.Ile221Thr)
| dbSNP gnomAD v4 |
6 | g.49457782A>T | CA364404247 | MMUT | c.662T>A (p.Ile221Lys)
| |
6 | g.49457783T>A | CA364404253 | MMUT | c.661A>T (p.Ile221Leu)
| |
6 | g.49457783T>C | CA364404250 | MMUT | c.661A>G (p.Ile221Val)
| |
6 | g.49457783T>G | CA364404252 | MMUT | c.661A>C (p.Ile221Leu)
| |
6 | g.49457784A= | CA1627392106 | MMUT | c.660T= (p.Asp220=)
| |
6 | g.49457784A>C | CA364404255 | MMUT | c.660T>G (p.Asp220Glu)
| |
6 | g.49457784A>G | CA450608786 | MMUT | c.660T>C (p.Asp220=)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49457784A>T | CA364404257 | MMUT | c.660T>A (p.Asp220Glu)
| |
6 | g.49457785T>A | CA364404259 | MMUT | c.659A>T (p.Asp220Val)
| |
6 | g.49457785T>C | CA364404261 | MMUT | c.659A>G (p.Asp220Gly)
| |
6 | g.49457785T>G | CA364404262 | MMUT | c.659A>C (p.Asp220Ala)
| |
6 | g.49457786C>A | CA364404263 | MMUT | c.658G>T (p.Asp220Tyr)
| gnomAD v4 |
6 | g.49457786C>G | CA364404265 | MMUT | c.658G>C (p.Asp220His)
| gnomAD v4 |
6 | g.49457786C>T | CA364404264 | MMUT | c.658G>A (p.Asp220Asn)
| |
6 | g.49457787A= | CA1627392107 | MMUT | c.657T= (p.Asn219=)
| |
6 | g.49457787A>C | CA364404266 | MMUT | c.657T>G (p.Asn219Lys)
| |
6 | g.49457787A>G | CA450608787 | MMUT | c.657T>C (p.Asn219=)
| |
6 | g.49457787A>T | CA364404267 | MMUT | c.657T>A (p.Asn219Lys)
| |
6 | g.49457788T>A | CA364404268 | MMUT | c.656A>T (p.Asn219Ile)
| |
6 | g.49457788T>C | CA138799604 | MMUT | c.656A>G (p.Asn219Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457788T>G | CA364404269 | MMUT | c.656A>C (p.Asn219Thr)
| |
6 | g.49457788T= | CA1627392108 | MMUT | c.656A= (p.Asn219=)
| |
6 | g.49457791dup | CA3847075 | MMUT | c.656dup (p.Asn219LysfsTer2)
| dbSNP ExAC gnomAD v2 |
6 | g.49457791del | CA2499218333 | MMUT | c.656del (p.Asn219MetfsTer4)
| ClinVar dbSNP |
6 | g.49457789T>A | CA249731 | MMUT | c.655A>T (p.Asn219Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457789T>C | CA364404270 | MMUT | c.655A>G (p.Asn219Asp)
| |
6 | g.49457789T>G | CA364404271 | MMUT | c.655A>C (p.Asn219His)
| |
6 | g.49457789T= | CA1627392109 | MMUT | c.655A= (p.Asn219=)
| |
6 | g.49457790T>A | CA364404272 | MMUT | c.654A>T (p.Gln218His)
| |
6 | g.49457790T>C | CA450608788 | MMUT | c.654A>G (p.Gln218=)
| |
6 | g.49457790T>G | CA364404273 | MMUT | c.654A>C (p.Gln218His)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457790T= | CA1627395125 | MMUT | c.654A= (p.Gln218=)
| |
6 | g.49457791T>A | CA364404275 | MMUT | c.653A>T (p.Gln218Leu)
| |
6 | g.49457791T>C | CA358798 | MMUT | c.653A>G (p.Gln218Arg)
| ClinVar dbSNP |
6 | g.49457791T>G | CA364404274 | MMUT | c.653A>C (p.Gln218Pro)
| |
6 | g.49457791T= | CA1627395138 | MMUT | c.653A= (p.Gln218=)
| |
6 | g.49457792G>A | CA3847076 | MMUT | c.652C>T (p.Gln218Ter)
| dbSNP ExAC gnomAD v2 |
6 | g.49457792G>C | CA364404276 | MMUT | c.652C>G (p.Gln218Glu)
| ClinVar dbSNP |
6 | g.49457792G= | CA1627395151 | MMUT | c.652C= (p.Gln218=)
| |
6 | g.49457792G>T | CA364404277 | MMUT | c.652C>A (p.Gln218Lys)
| |
6 | g.49457793G>A | CA450608789 | MMUT | c.651C>T (p.Ile217=)
| dbSNP |
6 | g.49457793G>C | CA364404278 | MMUT | c.651C>G (p.Ile217Met)
| |
6 | g.49457793G= | CA1627395162 | MMUT | c.651C= (p.Ile217=)
| |
6 | g.49457793G>T | CA450608790 | MMUT | c.651C>A (p.Ile217=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.49457794A= | CA1627395169 | MMUT | c.650T= (p.Ile217=)
| |
6 | g.49457794A>C | CA364404279 | MMUT | c.650T>G (p.Ile217Ser)
| |
6 | g.49457794A>G | CA364404280 | MMUT | c.650T>C (p.Ile217Thr)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49457794A>T | CA364404281 | MMUT | c.650T>A (p.Ile217Asn)
| |
6 | g.49457795T>A | CA364404282 | MMUT | c.649A>T (p.Ile217Phe)
| |
6 | g.49457795T>C | CA364404283 | MMUT | c.649A>G (p.Ile217Val)
| |
6 | g.49457795T>G | CA364404284 | MMUT | c.649A>C (p.Ile217Leu)
| |
6 | g.49457796G>A | CA3847077 | MMUT | c.648C>T (p.Thr216=)
| ClinVar dbSNP ExAC gnomAD v2 |
6 | g.49457796G>C | CA450608791 | MMUT | c.648C>G (p.Thr216=)
| |
6 | g.49457796G= | CA1627395171 | MMUT | c.648C= (p.Thr216=)
| |
6 | g.49457796G>T | CA450608792 | MMUT | c.648C>A (p.Thr216=)
| |
6 | g.49457797G>A | CA364404285 | MMUT | c.647C>T (p.Thr216Ile)
| |
6 | g.49457797G>C | CA364404286 | MMUT | c.647C>G (p.Thr216Ser)
| |
6 | g.49457797G= | CA1627395174 | MMUT | c.647C= (p.Thr216=)
| |
6 | g.49457797G>T | CA364404287 | MMUT | c.647C>A (p.Thr216Asn)
| ClinVar dbSNP |
6 | g.49457798T>A | CA364404288 | MMUT | c.646A>T (p.Thr216Ser)
| |
6 | g.49457798T>C | CA364404289 | MMUT | c.646A>G (p.Thr216Ala)
| |
6 | g.49457798T>G | CA364404290 | MMUT | c.646A>C (p.Thr216Pro)
| |
6 | g.49457799A>C | CA450608795 | MMUT | c.645T>G (p.Gly215=)
| |
6 | g.49457799A>G | CA450608794 | MMUT | c.645T>C (p.Gly215=)
| ClinVar |
6 | g.49457799A>T | CA450608793 | MMUT | c.645T>A (p.Gly215=)
| |
6 | g.49457800C>A | CA364404292 | MMUT | c.644G>T (p.Gly215Val)
| |
6 | g.49457800C= | CA1627395179 | MMUT | c.644G= (p.Gly215=)
| |
6 | g.49457800C>G | CA364404291 | MMUT | c.644G>C (p.Gly215Ala)
| |
6 | g.49457800C>T | CA3847078 | MMUT | c.644G>A (p.Gly215Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49457801C>A | CA16618294 | MMUT | c.643G>T (p.Gly215Cys)
| ClinVar dbSNP gnomAD v4 |
6 | g.49457801C= | CA1627395185 | MMUT | c.643G= (p.Gly215=)
| |
6 | g.49457801C>G | CA364404293 | MMUT | c.643G>C (p.Gly215Arg)
| |
6 | g.49457801C>T | CA249733 | MMUT | c.643G>A (p.Gly215Ser)
| ClinVar dbSNP gnomAD v4 |
6 | g.49457802A= | CA1627395194 | MMUT | c.642T= (p.Thr214=)
| |
6 | g.49457802A>C | CA450608796 | MMUT | c.642T>G (p.Thr214=)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49457802A>G | CA450608797 | MMUT | c.642T>C (p.Thr214=)
| gnomAD v4 |
6 | g.49457802A>T | CA450608798 | MMUT | c.642T>A (p.Thr214=)
| ClinVar dbSNP |
6 | g.49457803G>A | CA364404294 | MMUT | c.641C>T (p.Thr214Ile)
| |
6 | g.49457803G>C | CA364404295 | MMUT | c.641C>G (p.Thr214Ser)
| |
6 | g.49457803G>T | CA364404296 | MMUT | c.641C>A (p.Thr214Asn)
| |
6 | g.49457804T>A | CA364404297 | MMUT | c.640A>T (p.Thr214Ser)
| |
6 | g.49457804T>C | CA138799637 | MMUT | c.640A>G (p.Thr214Ala)
| dbSNP |
6 | g.49457804T>G | CA364404298 | MMUT | c.640A>C (p.Thr214Pro)
| |
6 | g.49457804T= | CA1627395198 | MMUT | c.640A= (p.Thr214=)
| |
6 | g.49457805A>C | CA450608799 | MMUT | c.639T>G (p.Leu213=)
| |
6 | g.49457805A>G | CA450608801 | MMUT | c.639T>C (p.Leu213=)
| |
6 | g.49457805A>T | CA450608800 | MMUT | c.639T>A (p.Leu213=)
| |
6 | g.49457806A>C | CA364404299 | MMUT | c.638T>G (p.Leu213Arg)
| |
6 | g.49457806A>G | CA364404300 | MMUT | c.638T>C (p.Leu213Pro)
| |
6 | g.49457806A>T | CA364404301 | MMUT | c.638T>A (p.Leu213His)
| |
6 | g.49457807G>A | CA364404302 | MMUT | c.637C>T (p.Leu213Phe)
| |
6 | g.49457807G>C | CA3847079 | MMUT | c.637C>G (p.Leu213Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49457807G= | CA1627395202 | MMUT | c.637C= (p.Leu213=)
| |
6 | g.49457807G>T | CA364404303 | MMUT | c.637C>A (p.Leu213Ile)
| |
6 | g.49457808C>A | CA364404304 | MMUT | c.636G>T (p.Lys212Asn)
| |
6 | g.49457808C= | CA347880 | MMUT | c.636G= (p.Lys212=)
| |
6 | g.49457808C>G | CA364404305 | MMUT | c.636G>C (p.Lys212Asn)
| |
6 | g.49457808C>T | CA285337 | MMUT | c.636G>A (p.Lys212=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457809T>A | CA364404306 | MMUT | c.635A>T (p.Lys212Met)
| |
6 | g.49457809T>C | CA138799653 | MMUT | c.635A>G (p.Lys212Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457809T>G | CA364404307 | MMUT | c.635A>C (p.Lys212Thr)
| |
6 | g.49457809T= | CA1627395214 | MMUT | c.635A= (p.Lys212=)
| |
6 | g.49457810T>A | CA364404308 | MMUT | c.634A>T (p.Lys212Ter)
| |
6 | g.49457810T>C | CA364404309 | MMUT | c.634A>G (p.Lys212Glu)
| |
6 | g.49457810T>G | CA364404310 | MMUT | c.634A>C (p.Lys212Gln)
| |
6 | g.49457811C>A | CA364404311 | MMUT | c.633G>T (p.Glu211Asp)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49457811C= | CA1627395219 | MMUT | c.633G= (p.Glu211=)
| |
6 | g.49457811C>G | CA3847080 | MMUT | c.633G>C (p.Glu211Asp)
| dbSNP ExAC gnomAD v2 |
6 | g.49457811C>T | CA450608802 | MMUT | c.633G>A (p.Glu211=)
| |
6 | g.49457811_49457813del | CA913187321 | MMUT | c.631_633del (p.Glu211del)
| |
6 | g.49457812T>A | CA364404312 | MMUT | c.632A>T (p.Glu211Val)
| |
6 | g.49457812T>C | CA3847081 | MMUT | c.632A>G (p.Glu211Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457812T>G | CA364404313 | MMUT | c.632A>C (p.Glu211Ala)
| |
6 | g.49457812T= | CA1627395222 | MMUT | c.632A= (p.Glu211=)
| |
6 | g.49457813C>A | CA364404315 | MMUT | c.631G>T (p.Glu211Ter)
| |
6 | g.49457813C>G | CA364404316 | MMUT | c.631G>C (p.Glu211Gln)
| |
6 | g.49457813C>T | CA364404314 | MMUT | c.631G>A (p.Glu211Lys)
| |
6 | g.49457813_49457814delinsCT | CA1627395226 | MMUT | c.630_631delinsAG (p.Lys210=)
| |
6 | g.49457814T>A | CA364404317 | MMUT | c.630A>T (p.Lys210Asn)
| |
6 | g.49457814T>C | CA450608803 | MMUT | c.630A>G (p.Lys210=)
| |
6 | g.49457814T>G | CA364404318 | MMUT | c.630A>C (p.Lys210Asn)
| |
6 | g.49457816del | CA10575879 | MMUT | c.630del (p.Glu211ArgfsTer12)
| ClinVar dbSNP gnomAD v4 |
6 | g.49457815T>A | CA364404319 | MMUT | c.629A>T (p.Lys210Ile)
| |
6 | g.49457815T>C | CA364404320 | MMUT | c.629A>G (p.Lys210Arg)
| |
6 | g.49457815T>G | CA364404321 | MMUT | c.629A>C (p.Lys210Thr)
| |
6 | g.49457816T>A | CA364404322 | MMUT | c.628A>T (p.Lys210Ter)
| |
6 | g.49457816T>C | CA138799678 | MMUT | c.628A>G (p.Lys210Glu)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49457816T>G | CA364404323 | MMUT | c.628A>C (p.Lys210Gln)
| |
6 | g.49457816T= | CA1627395235 | MMUT | c.628A= (p.Lys210=)
| |
6 | g.49457817A= | CA1627395239 | MMUT | c.627T= (p.Pro209=)
| |
6 | g.49457817A>C | CA3847082 | MMUT | c.627T>G (p.Pro209=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457817A>G | CA450608804 | MMUT | c.627T>C (p.Pro209=)
| ClinVar |
6 | g.49457817A>T | CA450608805 | MMUT | c.627T>A (p.Pro209=)
| |
6 | g.49457818G>A | CA364404324 | MMUT | c.626C>T (p.Pro209Leu)
| |
6 | g.49457818G>C | CA364404325 | MMUT | c.626C>G (p.Pro209Arg)
| |
6 | g.49457818G>T | CA364404326 | MMUT | c.626C>A (p.Pro209His)
| |
6 | g.49457819dup | CA825482501 | MMUT | c.626dup (p.Lys210Ter)
| ClinVar dbSNP |
6 | g.49457819G>A | CA3847083 | MMUT | c.625C>T (p.Pro209Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49457819G>C | CA364404328 | MMUT | c.625C>G (p.Pro209Ala)
| |
6 | g.49457819G= | CA1627395242 | MMUT | c.625C= (p.Pro209=)
| |
6 | g.49457819G>T | CA364404327 | MMUT | c.625C>A (p.Pro209Thr)
| |
6 | g.49457820T>A | CA450608806 | MMUT | c.624A>T (p.Val208=)
| |
6 | g.49457820T>C | CA450608807 | MMUT | c.624A>G (p.Val208=)
| gnomAD v4 |
6 | g.49457820T>G | CA450608808 | MMUT | c.624A>C (p.Val208=)
| |
6 | g.49457820_49457821del | CA2578675208 | MMUT | c.623_624del (p.Val208AlafsTer2)
| gnomAD v4 |
6 | g.49457821A>C | CA364404329 | MMUT | c.623T>G (p.Val208Gly)
| |
6 | g.49457821A>G | CA364404331 | MMUT | c.623T>C (p.Val208Ala)
| COSMIC |
6 | g.49457821A>T | CA364404330 | MMUT | c.623T>A (p.Val208Glu)
| |
6 | g.49457821_49457822delinsAC | CA1627395246 | MMUT | c.622_623delinsGT (p.Val208=)
| |
6 | g.49457822del | CA915944263 | MMUT | c.622del (p.Val208TyrfsTer15)
| ClinVar dbSNP gnomAD v4 |
6 | g.49457822C>A | CA364404332 | MMUT | c.622G>T (p.Val208Leu)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49457822C= | CA1627395253 | MMUT | c.622G= (p.Val208=)
| |
6 | g.49457822C>G | CA364404333 | MMUT | c.622G>C (p.Val208Leu)
| |
6 | g.49457822C>T | CA364404334 | MMUT | c.622G>A (p.Val208Ile)
| |
6 | g.49457823A>C | CA450608809 | MMUT | c.621T>G (p.Gly207=)
| ClinVar dbSNP |
6 | g.49457823A>G | CA450608810 | MMUT | c.621T>C (p.Gly207=)
| |
6 | g.49457823A>T | CA450608811 | MMUT | c.621T>A (p.Gly207=)
| |
6 | g.49457824C>A | CA3847084 | MMUT | c.620G>T (p.Gly207Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457824C= | CA1627395256 | MMUT | c.620G= (p.Gly207=)
| |
6 | g.49457824C>G | CA364404335 | MMUT | c.620G>C (p.Gly207Ala)
| |
6 | g.49457824C>T | CA364404336 | MMUT | c.620G>A (p.Gly207Asp)
| gnomAD v4 |