| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.80026776T>A | CA413740768 | TBX22 | c.706T>A (p.Ser236Thr) c.*318T>A (n.*318T>A) n.585T>A c.346T>A (p.Ser116Thr) c.709T>A (p.Ser237Thr) | |
| X | g.80026776T>C | CA413740769 | TBX22 | c.706T>C (p.Ser236Pro) c.*318T>C (n.*318T>C) n.585T>C c.346T>C (p.Ser116Pro) c.709T>C (p.Ser237Pro) | |
| X | g.80026776T>G | CA413740770 | TBX22 | c.706T>G (p.Ser236Ala) c.*318T>G (n.*318T>G) n.585T>G c.346T>G (p.Ser116Ala) c.709T>G (p.Ser237Ala) | |
| X | g.80026777C>A | CA413740771 | TBX22 | c.707C>A (p.Ser236Tyr) c.*319C>A (n.*319C>A) n.586C>A c.347C>A (p.Ser116Tyr) c.710C>A (p.Ser237Tyr) | |
| X | g.80026777C= | CA2439980760 | TBX22 | c.707C= (p.Ser236=) c.*319C= (n.*319C=) n.586C= c.347C= (p.Ser116=) c.710C= (p.Ser237=) | |
| X | g.80026777C>G | CA413740772 | TBX22 | c.707C>G (p.Ser236Cys) c.*319C>G (n.*319C>G) n.586C>G c.347C>G (p.Ser116Cys) c.710C>G (p.Ser237Cys) | |
| X | g.80026777C>T | CA413740773 | TBX22 | c.707C>T (p.Ser236Phe) c.*319C>T (n.*319C>T) n.586C>T c.347C>T (p.Ser116Phe) c.710C>T (p.Ser237Phe) | dbSNP |
| X | g.80026778C>A | CA517403051 | TBX22 | c.708C>A (p.Ser236=) c.*320C>A (n.*320C>A) n.587C>A c.348C>A (p.Ser116=) c.711C>A (p.Ser237=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.80026778C= | CA2439980761 | TBX22 | c.708C= (p.Ser236=) c.*320C= (n.*320C=) n.587C= c.348C= (p.Ser116=) c.711C= (p.Ser237=) | |
| X | g.80026778C>G | CA517403052 | TBX22 | c.708C>G (p.Ser236=) c.*320C>G (n.*320C>G) n.587C>G c.348C>G (p.Ser116=) c.711C>G (p.Ser237=) | |
| X | g.80026778C>T | CA517403050 | TBX22 | c.708C>T (p.Ser236=) c.*320C>T (n.*320C>T) n.587C>T c.348C>T (p.Ser116=) c.711C>T (p.Ser237=) | COSMIC |
| X | g.80026779C>A | CA413740776 | TBX22 | c.709C>A (p.Gln237Lys) c.*321C>A (n.*321C>A) n.588C>A c.349C>A (p.Gln117Lys) c.712C>A (p.Gln238Lys) | |
| X | g.80026779C= | CA2439980762 | TBX22 | c.709C= (p.Gln237=) c.*321C= (n.*321C=) n.588C= c.349C= (p.Gln117=) c.712C= (p.Gln238=) | |
| X | g.80026779C>G | CA413740775 | TBX22 | c.709C>G (p.Gln237Glu) c.*321C>G (n.*321C>G) n.588C>G c.349C>G (p.Gln117Glu) c.712C>G (p.Gln238Glu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.80026779C>T | CA413740774 | TBX22 | c.709C>T (p.Gln237Ter) c.*321C>T (n.*321C>T) n.588C>T c.349C>T (p.Gln117Ter) c.712C>T (p.Gln238Ter) | |
| X | g.80026780A= | CA2439980763 | TBX22 | c.710A= (p.Gln237=) c.*322A= (n.*322A=) n.589A= c.350A= (p.Gln117=) c.713A= (p.Gln238=) | |
| X | g.80026780A>C | CA331778191 | TBX22 | c.710A>C (p.Gln237Pro) c.*322A>C (n.*322A>C) n.589A>C c.350A>C (p.Gln117Pro) c.713A>C (p.Gln238Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.80026780A>G | CA413740777 | TBX22 | c.710A>G (p.Gln237Arg) c.*322A>G (n.*322A>G) n.589A>G c.350A>G (p.Gln117Arg) c.713A>G (p.Gln238Arg) | |
| X | g.80026780A>T | CA413740778 | TBX22 | c.710A>T (p.Gln237Leu) c.*322A>T (n.*322A>T) n.589A>T c.350A>T (p.Gln117Leu) c.713A>T (p.Gln238Leu) | |
| X | g.80026781G>A | CA517403053 | TBX22 | c.711G>A (p.Gln237=) c.*323G>A (n.*323G>A) n.590G>A c.351G>A (p.Gln117=) c.714G>A (p.Gln238=) | |
| X | g.80026781G>C | CA413740779 | TBX22 | c.711G>C (p.Gln237His) c.*323G>C (n.*323G>C) n.590G>C c.351G>C (p.Gln117His) c.714G>C (p.Gln238His) | gnomAD v4 |
| X | g.80026781G>T | CA413740780 | TBX22 | c.711G>T (p.Gln237His) c.*323G>T (n.*323G>T) n.590G>T c.351G>T (p.Gln117His) c.714G>T (p.Gln238His) | gnomAD v4 |
| X | g.80026782A>C | CA413740781 | TBX22 | c.712A>C (p.Ile238Leu) c.*324A>C (n.*324A>C) n.591A>C c.352A>C (p.Ile118Leu) c.715A>C (p.Ile239Leu) | |
| X | g.80026782A>G | CA413740782 | TBX22 | c.712A>G (p.Ile238Val) c.*324A>G (n.*324A>G) n.591A>G c.352A>G (p.Ile118Val) c.715A>G (p.Ile239Val) | gnomAD v4 |
| X | g.80026782A>T | CA413740783 | TBX22 | c.712A>T (p.Ile238Phe) c.*324A>T (n.*324A>T) n.591A>T c.352A>T (p.Ile118Phe) c.715A>T (p.Ile239Phe) | |
| X | g.80026783T>A | CA413740784 | TBX22 | c.713T>A (p.Ile238Asn) c.*325T>A (n.*325T>A) n.592T>A c.353T>A (p.Ile118Asn) c.716T>A (p.Ile239Asn) | |
| X | g.80026783T>C | CA413740785 | TBX22 | c.713T>C (p.Ile238Thr) c.*325T>C (n.*325T>C) n.592T>C c.353T>C (p.Ile118Thr) c.716T>C (p.Ile239Thr) | |
| X | g.80026783T>G | CA413740786 | TBX22 | c.713T>G (p.Ile238Ser) c.*325T>G (n.*325T>G) n.592T>G c.353T>G (p.Ile118Ser) c.716T>G (p.Ile239Ser) | |
| X | g.80026784T>A | CA517403054 | TBX22 | c.714T>A (p.Ile238=) c.*326T>A (n.*326T>A) n.593T>A c.354T>A (p.Ile118=) c.717T>A (p.Ile239=) | |
| X | g.80026784T>C | CA517403055 | TBX22 | c.714T>C (p.Ile238=) c.*326T>C (n.*326T>C) n.593T>C c.354T>C (p.Ile118=) c.717T>C (p.Ile239=) | |
| X | g.80026784T>G | CA413740787 | TBX22 | c.714T>G (p.Ile238Met) c.*326T>G (n.*326T>G) n.593T>G c.354T>G (p.Ile118Met) c.717T>G (p.Ile239Met) | |
| X | g.80026785C>A | CA413740790 | TBX22 | c.715C>A (p.Gln239Lys) c.*327C>A (n.*327C>A) n.594C>A c.355C>A (p.Gln119Lys) c.718C>A (p.Gln240Lys) | |
| X | g.80026785C>G | CA413740789 | TBX22 | c.715C>G (p.Gln239Glu) c.*327C>G (n.*327C>G) n.594C>G c.355C>G (p.Gln119Glu) c.718C>G (p.Gln240Glu) | COSMIC |
| X | g.80026785C>T | CA413740788 | TBX22 | c.715C>T (p.Gln239Ter) c.*327C>T (n.*327C>T) n.594C>T c.355C>T (p.Gln119Ter) c.718C>T (p.Gln240Ter) | |
| X | g.80026786A>C | CA413740791 | TBX22 | c.716A>C (p.Gln239Pro) c.*328A>C (n.*328A>C) n.595A>C c.356A>C (p.Gln119Pro) c.719A>C (p.Gln240Pro) | gnomAD v4 |
| X | g.80026786A>G | CA413740792 | TBX22 | c.716A>G (p.Gln239Arg) c.*328A>G (n.*328A>G) n.595A>G c.356A>G (p.Gln119Arg) c.719A>G (p.Gln240Arg) | |
| X | g.80026786A>T | CA413740793 | TBX22 | c.716A>T (p.Gln239Leu) c.*328A>T (n.*328A>T) n.595A>T c.356A>T (p.Gln119Leu) c.719A>T (p.Gln240Leu) | |
| X | g.80026787G>A | CA517403056 | TBX22 | c.717G>A (p.Gln239=) c.*329G>A (n.*329G>A) n.596G>A c.357G>A (p.Gln119=) c.720G>A (p.Gln240=) | |
| X | g.80026787G>C | CA413740794 | TBX22 | c.717G>C (p.Gln239His) c.*329G>C (n.*329G>C) n.596G>C c.357G>C (p.Gln119His) c.720G>C (p.Gln240His) | |
| X | g.80026787G>T | CA413740795 | TBX22 | c.717G>T (p.Gln239His) c.*329G>T (n.*329G>T) n.596G>T c.357G>T (p.Gln119His) c.720G>T (p.Gln240His) | |
| X | g.80026788T>A | CA413740796 | TBX22 | c.718T>A (p.Ser240Thr) c.*330T>A (n.*330T>A) n.597T>A c.358T>A (p.Ser120Thr) c.721T>A (p.Ser241Thr) | |
| X | g.80026788T>C | CA413740797 | TBX22 | c.718T>C (p.Ser240Pro) c.*330T>C (n.*330T>C) n.597T>C c.358T>C (p.Ser120Pro) c.721T>C (p.Ser241Pro) | |
| X | g.80026788T>G | CA413740798 | TBX22 | c.718T>G (p.Ser240Ala) c.*330T>G (n.*330T>G) n.597T>G c.358T>G (p.Ser120Ala) c.721T>G (p.Ser241Ala) | |
| X | g.80026789C>A | CA413740799 | TBX22 | c.719C>A (p.Ser240Tyr) c.*331C>A (n.*331C>A) n.598C>A c.359C>A (p.Ser120Tyr) c.722C>A (p.Ser241Tyr) | |
| X | g.80026789C>G | CA413740800 | TBX22 | c.719C>G (p.Ser240Cys) c.*331C>G (n.*331C>G) n.598C>G c.359C>G (p.Ser120Cys) c.722C>G (p.Ser241Cys) | |
| X | g.80026789C>T | CA413740801 | TBX22 | c.719C>T (p.Ser240Phe) c.*331C>T (n.*331C>T) n.598C>T c.359C>T (p.Ser120Phe) c.722C>T (p.Ser241Phe) | |
| X | g.80026790C>A | CA331778192 | TBX22 | c.720C>A (p.Ser240=) c.*332C>A (n.*332C>A) n.599C>A c.360C>A (p.Ser120=) c.723C>A (p.Ser241=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.80026790C= | CA2439980764 | TBX22 | c.720C= (p.Ser240=) c.*332C= (n.*332C=) n.599C= c.360C= (p.Ser120=) c.723C= (p.Ser241=) | |
| X | g.80026790C>G | CA517403057 | TBX22 | c.720C>G (p.Ser240=) c.*332C>G (n.*332C>G) n.599C>G c.360C>G (p.Ser120=) c.723C>G (p.Ser241=) | |
| X | g.80026790C>T | CA517403058 | TBX22 | c.720C>T (p.Ser240=) c.*332C>T (n.*332C>T) n.599C>T c.360C>T (p.Ser120=) c.723C>T (p.Ser241=) | |
| X | g.80026791T>A | CA413740802 | TBX22 | c.721T>A (p.Leu241Met) c.*333T>A (n.*333T>A) n.600T>A c.361T>A (p.Leu121Met) c.724T>A (p.Leu242Met) | |
| X | g.80026791T>C | CA517403059 | TBX22 | c.721T>C (p.Leu241=) c.*333T>C (n.*333T>C) n.600T>C c.361T>C (p.Leu121=) c.724T>C (p.Leu242=) | |
| X | g.80026791T>G | CA413740803 | TBX22 | c.721T>G (p.Leu241Val) c.*333T>G (n.*333T>G) n.600T>G c.361T>G (p.Leu121Val) c.724T>G (p.Leu242Val) | gnomAD v4 |
| X | g.80026792T>A | CA413740805 | TBX22 | c.722T>A (p.Leu241Ter) c.*334T>A (n.*334T>A) n.601T>A c.362T>A (p.Leu121Ter) c.725T>A (p.Leu242Ter) | |
| X | g.80026792T>C | CA413740806 | TBX22 | c.722T>C (p.Leu241Ser) c.*334T>C (n.*334T>C) n.601T>C c.362T>C (p.Leu121Ser) c.725T>C (p.Leu242Ser) | |
| X | g.80026792T>G | CA413740804 | TBX22 | c.722T>G (p.Leu241Trp) c.*334T>G (n.*334T>G) n.601T>G c.362T>G (p.Leu121Trp) c.725T>G (p.Leu242Trp) | |
| X | g.80026793G>A | CA517403060 | TBX22 | c.723G>A (p.Leu241=) c.*335G>A (n.*335G>A) n.602G>A c.363G>A (p.Leu121=) c.726G>A (p.Leu242=) | |
| X | g.80026793G>C | CA413740808 | TBX22 | c.723G>C (p.Leu241Phe) c.*335G>C (n.*335G>C) n.602G>C c.363G>C (p.Leu121Phe) c.726G>C (p.Leu242Phe) | |
| X | g.80026793G>T | CA413740807 | TBX22 | c.723G>T (p.Leu241Phe) c.*335G>T (n.*335G>T) n.602G>T c.363G>T (p.Leu121Phe) c.726G>T (p.Leu242Phe) | |
| X | g.80026794C>A | CA10461288 | TBX22 | c.724C>A (p.Pro242Thr) c.*336C>A (n.*336C>A) n.603C>A c.364C>A (p.Pro122Thr) c.727C>A (p.Pro243Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.80026794C= | CA2439980765 | TBX22 | c.724C= (p.Pro242=) c.*336C= (n.*336C=) n.603C= c.364C= (p.Pro122=) c.727C= (p.Pro243=) | |
| X | g.80026794C>G | CA413740809 | TBX22 | c.724C>G (p.Pro242Ala) c.*336C>G (n.*336C>G) n.603C>G c.364C>G (p.Pro122Ala) c.727C>G (p.Pro243Ala) | |
| X | g.80026794C>T | CA413740810 | TBX22 | c.724C>T (p.Pro242Ser) c.*336C>T (n.*336C>T) n.603C>T c.364C>T (p.Pro122Ser) c.727C>T (p.Pro243Ser) | |
| X | g.80026795C>A | CA413740811 | TBX22 | c.725C>A (p.Pro242His) c.*337C>A (n.*337C>A) n.604C>A c.365C>A (p.Pro122His) c.728C>A (p.Pro243His) | |
| X | g.80026795C>G | CA413740813 | TBX22 | c.725C>G (p.Pro242Arg) c.*337C>G (n.*337C>G) n.604C>G c.365C>G (p.Pro122Arg) c.728C>G (p.Pro243Arg) | |
| X | g.80026795C>T | CA413740812 | TBX22 | c.725C>T (p.Pro242Leu) c.*337C>T (n.*337C>T) n.604C>T c.365C>T (p.Pro122Leu) c.728C>T (p.Pro243Leu) | |
| X | g.80026796C>A | CA517403061 | TBX22 | c.726C>A (p.Pro242=) c.*338C>A (n.*338C>A) n.605C>A c.366C>A (p.Pro122=) c.729C>A (p.Pro243=) | COSMIC |
| X | g.80026796C>G | CA517403062 | TBX22 | c.726C>G (p.Pro242=) c.*338C>G (n.*338C>G) n.605C>G c.366C>G (p.Pro122=) c.729C>G (p.Pro243=) | |
| X | g.80026796C>T | CA517403063 | TBX22 | c.726C>T (p.Pro242=) c.*338C>T (n.*338C>T) n.605C>T c.366C>T (p.Pro122=) c.729C>T (p.Pro243=) | |
| X | g.80026797A= | CA2439980766 | TBX22 | c.727A= (p.Thr243=) c.*339A= (n.*339A=) n.606A= c.367A= (p.Thr123=) c.730A= (p.Thr244=) | |
| X | g.80026797A>C | CA413740814 | TBX22 | c.727A>C (p.Thr243Pro) c.*339A>C (n.*339A>C) n.606A>C c.367A>C (p.Thr123Pro) c.730A>C (p.Thr244Pro) | |
| X | g.80026797A>G | CA413740815 | TBX22 | c.727A>G (p.Thr243Ala) c.*339A>G (n.*339A>G) n.606A>G c.367A>G (p.Thr123Ala) c.730A>G (p.Thr244Ala) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.80026797A>T | CA413740816 | TBX22 | c.727A>T (p.Thr243Ser) c.*339A>T (n.*339A>T) n.606A>T c.367A>T (p.Thr123Ser) c.730A>T (p.Thr244Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.80026798C>A | CA413740817 | TBX22 | c.728C>A (p.Thr243Asn) c.*340C>A (n.*340C>A) n.607C>A c.368C>A (p.Thr123Asn) c.731C>A (p.Thr244Asn) | COSMIC |
| X | g.80026798C>G | CA413740818 | TBX22 | c.728C>G (p.Thr243Ser) c.*340C>G (n.*340C>G) n.607C>G c.368C>G (p.Thr123Ser) c.731C>G (p.Thr244Ser) | |
| X | g.80026798C>T | CA413740819 | TBX22 | c.728C>T (p.Thr243Ile) c.*340C>T (n.*340C>T) n.607C>T c.368C>T (p.Thr123Ile) c.731C>T (p.Thr244Ile) | |
| X | g.80026799T>A | CA517403065 | TBX22 | c.729T>A (p.Thr243=) c.*341T>A (n.*341T>A) n.608T>A c.369T>A (p.Thr123=) c.732T>A (p.Thr244=) | |
| X | g.80026799T>C | CA10461289 | TBX22 | c.729T>C (p.Thr243=) c.*341T>C (n.*341T>C) n.608T>C c.369T>C (p.Thr123=) c.732T>C (p.Thr244=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.80026799T>G | CA517403064 | TBX22 | c.729T>G (p.Thr243=) c.*341T>G (n.*341T>G) n.608T>G c.369T>G (p.Thr123=) c.732T>G (p.Thr244=) | |
| X | g.80026799T= | CA2439980767 | TBX22 | c.729T= (p.Thr243=) c.*341T= (n.*341T=) n.608T= c.369T= (p.Thr123=) c.732T= (p.Thr244=) | |
| X | g.80026800G>A | CA413740820 | TBX22 | c.730G>A (p.Glu244Lys) c.*342G>A (n.*342G>A) n.609G>A c.370G>A (p.Glu124Lys) c.733G>A (p.Glu245Lys) | |
| X | g.80026800G>C | CA413740821 | TBX22 | c.730G>C (p.Glu244Gln) c.*342G>C (n.*342G>C) n.609G>C c.370G>C (p.Glu124Gln) c.733G>C (p.Glu245Gln) | |
| X | g.80026800G>T | CA413740822 | TBX22 | c.730G>T (p.Glu244Ter) c.*342G>T (n.*342G>T) n.609G>T c.370G>T (p.Glu124Ter) c.733G>T (p.Glu245Ter) | |
| X | g.80026801A>C | CA413740825 | TBX22 | c.731A>C (p.Glu244Ala) c.*343A>C (n.*343A>C) n.610A>C c.371A>C (p.Glu124Ala) c.734A>C (p.Glu245Ala) | |
| X | g.80026801A>G | CA413740824 | TBX22 | c.731A>G (p.Glu244Gly) c.*343A>G (n.*343A>G) n.610A>G c.371A>G (p.Glu124Gly) c.734A>G (p.Glu245Gly) | gnomAD v4 |
| X | g.80026801A>T | CA413740823 | TBX22 | c.731A>T (p.Glu244Val) c.*343A>T (n.*343A>T) n.610A>T c.371A>T (p.Glu124Val) c.734A>T (p.Glu245Val) | |
| X | g.80026802A>C | CA413740826 | TBX22 | c.732A>C (p.Glu244Asp) c.*344A>C (n.*344A>C) n.611A>C c.372A>C (p.Glu124Asp) c.735A>C (p.Glu245Asp) | |
| X | g.80026802A>G | CA517403066 | TBX22 | c.732A>G (p.Glu244=) c.*344A>G (n.*344A>G) n.611A>G c.372A>G (p.Glu124=) c.735A>G (p.Glu245=) | |
| X | g.80026802A>T | CA413740827 | TBX22 | c.732A>T (p.Glu244Asp) c.*344A>T (n.*344A>T) n.611A>T c.372A>T (p.Glu124Asp) c.735A>T (p.Glu245Asp) | |
| X | g.80026803G>A | CA413740828 | TBX22 | c.733G>A (p.Gly245Ser) c.*345G>A (n.*345G>A) n.612G>A c.373G>A (p.Gly125Ser) c.736G>A (p.Gly246Ser) | |
| X | g.80026803G>C | CA413740829 | TBX22 | c.733G>C (p.Gly245Arg) c.*345G>C (n.*345G>C) n.612G>C c.373G>C (p.Gly125Arg) c.736G>C (p.Gly246Arg) | |
| X | g.80026803G= | CA2439980768 | TBX22 | c.733G= (p.Gly245=) c.*345G= (n.*345G=) n.612G= c.373G= (p.Gly125=) c.736G= (p.Gly246=) | |
| X | g.80026803G>T | CA413740830 | TBX22 | c.733G>T (p.Gly245Cys) c.*345G>T (n.*345G>T) n.612G>T c.373G>T (p.Gly125Cys) c.736G>T (p.Gly246Cys) | dbSNP |
| X | g.80026804G>A | CA413740831 | TBX22 | c.734G>A (p.Gly245Asp) c.*346G>A (n.*346G>A) n.613G>A c.374G>A (p.Gly125Asp) c.737G>A (p.Gly246Asp) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.80026804G>C | CA413740832 | TBX22 | c.734G>C (p.Gly245Ala) c.*346G>C (n.*346G>C) n.613G>C c.374G>C (p.Gly125Ala) c.737G>C (p.Gly246Ala) | |
| X | g.80026804G= | CA2439980769 | TBX22 | c.734G= (p.Gly245=) c.*346G= (n.*346G=) n.613G= c.374G= (p.Gly125=) c.737G= (p.Gly246=) | |
| X | g.80026804G>T | CA413740833 | TBX22 | c.734G>T (p.Gly245Val) c.*346G>T (n.*346G>T) n.613G>T c.374G>T (p.Gly125Val) c.737G>T (p.Gly246Val) | |
| X | g.80026805T>A | CA517403069 | TBX22 | c.735T>A (p.Gly245=) c.*347T>A (n.*347T>A) n.614T>A c.375T>A (p.Gly125=) c.738T>A (p.Gly246=) | |
| X | g.80026805T>C | CA517403067 | TBX22 | c.735T>C (p.Gly245=) c.*347T>C (n.*347T>C) n.614T>C c.375T>C (p.Gly125=) c.738T>C (p.Gly246=) | |
| X | g.80026805T>G | CA517403068 | TBX22 | c.735T>G (p.Gly245=) c.*347T>G (n.*347T>G) n.614T>G c.375T>G (p.Gly125=) c.738T>G (p.Gly246=) | |
| X | g.80026806G>A | CA413740834 | TBX22 | c.736G>A (p.Val246Ile) c.*348G>A (n.*348G>A) n.615G>A c.376G>A (p.Val126Ile) c.739G>A (p.Val247Ile) | gnomAD v4 |
| X | g.80026806G>C | CA413740835 | TBX22 | c.736G>C (p.Val246Leu) c.*348G>C (n.*348G>C) n.615G>C c.376G>C (p.Val126Leu) c.739G>C (p.Val247Leu) | |
| X | g.80026806G>T | CA413740836 | TBX22 | c.736G>T (p.Val246Phe) c.*348G>T (n.*348G>T) n.615G>T c.376G>T (p.Val126Phe) c.739G>T (p.Val247Phe) | gnomAD v4 |
| X | g.80026807T>A | CA413740838 | TBX22 | c.737T>A (p.Val246Asp) c.*349T>A (n.*349T>A) n.616T>A c.377T>A (p.Val126Asp) c.740T>A (p.Val247Asp) | |
| X | g.80026807T>C | CA413740839 | TBX22 | c.737T>C (p.Val246Ala) c.*349T>C (n.*349T>C) n.616T>C c.377T>C (p.Val126Ala) c.740T>C (p.Val247Ala) | |
| X | g.80026807T>G | CA413740837 | TBX22 | c.737T>G (p.Val246Gly) c.*349T>G (n.*349T>G) n.616T>G c.377T>G (p.Val126Gly) c.740T>G (p.Val247Gly) | |
| X | g.80026808T>A | CA517403070 | TBX22 | c.738T>A (p.Val246=) c.*350T>A (n.*350T>A) n.617T>A c.378T>A (p.Val126=) c.741T>A (p.Val247=) | |
| X | g.80026808T>C | CA517403071 | TBX22 | c.738T>C (p.Val246=) c.*350T>C (n.*350T>C) n.617T>C c.378T>C (p.Val126=) c.741T>C (p.Val247=) | |
| X | g.80026808T>G | CA517403072 | TBX22 | c.738T>G (p.Val246=) c.*350T>G (n.*350T>G) n.617T>G c.378T>G (p.Val126=) c.741T>G (p.Val247=) | |
| X | g.80026809A>C | CA413740840 | TBX22 | c.739A>C (p.Lys247Gln) c.*351A>C (n.*351A>C) n.618A>C c.379A>C (p.Lys127Gln) c.742A>C (p.Lys248Gln) | |
| X | g.80026809A>G | CA413740841 | TBX22 | c.739A>G (p.Lys247Glu) c.*351A>G (n.*351A>G) n.618A>G c.379A>G (p.Lys127Glu) c.742A>G (p.Lys248Glu) | |
| X | g.80026809A>T | CA413740842 | TBX22 | c.739A>T (p.Lys247Ter) c.*351A>T (n.*351A>T) n.618A>T c.379A>T (p.Lys127Ter) c.742A>T (p.Lys248Ter) | |
| X | g.80026810A>C | CA413740843 | TBX22 | c.740A>C (p.Lys247Thr) c.*352A>C (n.*352A>C) n.619A>C c.380A>C (p.Lys127Thr) c.743A>C (p.Lys248Thr) | |
| X | g.80026810A>G | CA413740844 | TBX22 | c.740A>G (p.Lys247Arg) c.*352A>G (n.*352A>G) n.619A>G c.380A>G (p.Lys127Arg) c.743A>G (p.Lys248Arg) | |
| X | g.80026810A>T | CA413740845 | TBX22 | c.740A>T (p.Lys247Ile) c.*352A>T (n.*352A>T) n.619A>T c.380A>T (p.Lys127Ile) c.743A>T (p.Lys248Ile) | |
| X | g.80026811A>C | CA413740847 | TBX22 | c.741A>C (p.Lys247Asn) c.*353A>C (n.*353A>C) n.620A>C c.381A>C (p.Lys127Asn) c.744A>C (p.Lys248Asn) | |
| X | g.80026811A>G | CA517403073 | TBX22 | c.741A>G (p.Lys247=) c.*353A>G (n.*353A>G) n.620A>G c.381A>G (p.Lys127=) c.744A>G (p.Lys248=) | |
| X | g.80026811A>T | CA413740846 | TBX22 | c.741A>T (p.Lys247Asn) c.*353A>T (n.*353A>T) n.620A>T c.381A>T (p.Lys127Asn) c.744A>T (p.Lys248Asn) | |
| X | g.80026812A>C | CA413740848 | TBX22 | c.742A>C (p.Thr248Pro) c.*354A>C (n.*354A>C) n.621A>C c.382A>C (p.Thr128Pro) c.745A>C (p.Thr249Pro) | |
| X | g.80026812A>G | CA413740849 | TBX22 | c.742A>G (p.Thr248Ala) c.*354A>G (n.*354A>G) n.621A>G c.382A>G (p.Thr128Ala) c.745A>G (p.Thr249Ala) | |
| X | g.80026812A>T | CA413740850 | TBX22 | c.742A>T (p.Thr248Ser) c.*354A>T (n.*354A>T) n.621A>T c.382A>T (p.Thr128Ser) c.745A>T (p.Thr249Ser) | |
| X | g.80026813C>A | CA413740851 | TBX22 | c.743C>A (p.Thr248Lys) c.*355C>A (n.*355C>A) n.622C>A c.383C>A (p.Thr128Lys) c.746C>A (p.Thr249Lys) | |
| X | g.80026813C>G | CA413740852 | TBX22 | c.743C>G (p.Thr248Arg) c.*355C>G (n.*355C>G) n.622C>G c.383C>G (p.Thr128Arg) c.746C>G (p.Thr249Arg) | |
| X | g.80026813C>T | CA413740853 | TBX22 | c.743C>T (p.Thr248Ile) c.*355C>T (n.*355C>T) n.622C>T c.383C>T (p.Thr128Ile) c.746C>T (p.Thr249Ile) | gnomAD v4 |
| X | g.80026814A>C | CA517403074 | TBX22 | c.744A>C (p.Thr248=) c.*356A>C (n.*356A>C) n.623A>C c.384A>C (p.Thr128=) c.747A>C (p.Thr249=) | |
| X | g.80026814A>G | CA517403075 | TBX22 | c.744A>G (p.Thr248=) c.*356A>G (n.*356A>G) n.623A>G c.384A>G (p.Thr128=) c.747A>G (p.Thr249=) | |
| X | g.80026814A>T | CA517403076 | TBX22 | c.744A>T (p.Thr248=) c.*356A>T (n.*356A>T) n.623A>T c.384A>T (p.Thr128=) c.747A>T (p.Thr249=) | gnomAD v4 |
| X | g.80026815T>A | CA413740854 | TBX22 | c.745T>A (p.Phe249Ile) c.*357T>A (n.*357T>A) n.624T>A c.385T>A (p.Phe129Ile) c.748T>A (p.Phe250Ile) | |
| X | g.80026815T>C | CA413740856 | TBX22 | c.745T>C (p.Phe249Leu) c.*357T>C (n.*357T>C) n.624T>C c.385T>C (p.Phe129Leu) c.748T>C (p.Phe250Leu) | |
| X | g.80026815T>G | CA413740855 | TBX22 | c.745T>G (p.Phe249Val) c.*357T>G (n.*357T>G) n.624T>G c.385T>G (p.Phe129Val) c.748T>G (p.Phe250Val) | |
| X | g.80026816T>A | CA413740857 | TBX22 | c.746T>A (p.Phe249Tyr) c.*358T>A (n.*358T>A) n.625T>A c.386T>A (p.Phe129Tyr) c.749T>A (p.Phe250Tyr) | gnomAD v4 |
| X | g.80026816T>C | CA413740858 | TBX22 | c.746T>C (p.Phe249Ser) c.*358T>C (n.*358T>C) n.625T>C c.386T>C (p.Phe129Ser) c.749T>C (p.Phe250Ser) | |
| X | g.80026816T>G | CA413740859 | TBX22 | c.746T>G (p.Phe249Cys) c.*358T>G (n.*358T>G) n.625T>G c.386T>G (p.Phe129Cys) c.749T>G (p.Phe250Cys) | |
| X | g.80026817C>A | CA413740860 | TBX22 | c.747C>A (p.Phe249Leu) c.*359C>A (n.*359C>A) n.626C>A c.387C>A (p.Phe129Leu) c.750C>A (p.Phe250Leu) | gnomAD v4 |
| X | g.80026817C>G | CA413740861 | TBX22 | c.747C>G (p.Phe249Leu) c.*359C>G (n.*359C>G) n.626C>G c.387C>G (p.Phe129Leu) c.750C>G (p.Phe250Leu) | |
| X | g.80026817C>T | CA517403077 | TBX22 | c.747C>T (p.Phe249=) c.*359C>T (n.*359C>T) n.626C>T c.387C>T (p.Phe129=) c.750C>T (p.Phe250=) | gnomAD v4 |
| X | g.80026817_80026818delinsCT | CA2439980770 | TBX22 | c.747_748delinsCT (p.Phe249=) c.*359_*360delinsCT (n.*359_*360delinsCT) n.626_627delinsCT c.387_388delinsCT (p.Phe129=) c.750_751delinsCT (p.Phe250=) | |
| X | g.80026818del | CA2439980771 | TBX22 | c.748del (p.Ser250ProfsTer10) c.*360del (n.*360del) n.627del c.388del (p.Ser130ProfsTer10) c.751del (p.Ser251ProfsTer10) | dbSNP |
| X | g.80026818T>A | CA413740862 | TBX22 | c.748T>A (p.Ser250Thr) c.*360T>A (n.*360T>A) n.627T>A c.388T>A (p.Ser130Thr) c.751T>A (p.Ser251Thr) | |
| X | g.80026818T>C | CA413740863 | TBX22 | c.748T>C (p.Ser250Pro) c.*360T>C (n.*360T>C) n.627T>C c.388T>C (p.Ser130Pro) c.751T>C (p.Ser251Pro) | gnomAD v4 |
| X | g.80026818T>G | CA413740864 | TBX22 | c.748T>G (p.Ser250Ala) c.*360T>G (n.*360T>G) n.627T>G c.388T>G (p.Ser130Ala) c.751T>G (p.Ser251Ala) | |
| X | g.80026819C>A | CA413740865 | TBX22 | c.749C>A (p.Ser250Tyr) c.*361C>A (n.*361C>A) n.628C>A c.389C>A (p.Ser130Tyr) c.752C>A (p.Ser251Tyr) | |
| X | g.80026819C>G | CA413740866 | TBX22 | c.749C>G (p.Ser250Cys) c.*361C>G (n.*361C>G) n.628C>G c.389C>G (p.Ser130Cys) c.752C>G (p.Ser251Cys) | |
| X | g.80026819C>T | CA413740867 | TBX22 | c.749C>T (p.Ser250Phe) c.*361C>T (n.*361C>T) n.628C>T c.389C>T (p.Ser130Phe) c.752C>T (p.Ser251Phe) | |
| X | g.80026820C>A | CA517403078 | TBX22 | c.750C>A (p.Ser250=) c.*362C>A (n.*362C>A) n.629C>A c.390C>A (p.Ser130=) c.753C>A (p.Ser251=) | |
| X | g.80026820C>G | CA517403079 | TBX22 | c.750C>G (p.Ser250=) c.*362C>G (n.*362C>G) n.629C>G c.390C>G (p.Ser130=) c.753C>G (p.Ser251=) | gnomAD v4 |
| X | g.80026820C>T | CA517403080 | TBX22 | c.750C>T (p.Ser250=) c.*362C>T (n.*362C>T) n.629C>T c.390C>T (p.Ser130=) c.753C>T (p.Ser251=) | gnomAD v4 |
| X | g.80026820_80026822del | CA2524170673 | TBX22 | c.750_752del (p.Phe251del) c.*362_*364del (n.*362_*364del) n.629_631del c.390_392del (p.Phe131del) c.753_755del (p.Phe252del) | |
| X | g.80026821T>A | CA413740870 | TBX22 | c.751T>A (p.Phe251Ile) c.*363T>A (n.*363T>A) n.630T>A c.391T>A (p.Phe131Ile) c.754T>A (p.Phe252Ile) | |
| X | g.80026821T>C | CA413740869 | TBX22 | c.751T>C (p.Phe251Leu) c.*363T>C (n.*363T>C) n.630T>C c.391T>C (p.Phe131Leu) c.754T>C (p.Phe252Leu) | |
| X | g.80026821T>G | CA413740868 | TBX22 | c.751T>G (p.Phe251Val) c.*363T>G (n.*363T>G) n.630T>G c.391T>G (p.Phe131Val) c.754T>G (p.Phe252Val) | |
| X | g.80026822T>A | CA413740871 | TBX22 | c.752T>A (p.Phe251Tyr) c.*364T>A (n.*364T>A) n.631T>A c.392T>A (p.Phe131Tyr) c.755T>A (p.Phe252Tyr) | |
| X | g.80026822T>C | CA413740873 | TBX22 | c.752T>C (p.Phe251Ser) c.*364T>C (n.*364T>C) n.631T>C c.392T>C (p.Phe131Ser) c.755T>C (p.Phe252Ser) | |
| X | g.80026822T>G | CA413740872 | TBX22 | c.752T>G (p.Phe251Cys) c.*364T>G (n.*364T>G) n.631T>G c.392T>G (p.Phe131Cys) c.755T>G (p.Phe252Cys) | |
| X | g.80026823T>A | CA413740874 | TBX22 | c.753T>A (p.Phe251Leu) c.*365T>A (n.*365T>A) n.632T>A c.393T>A (p.Phe131Leu) c.756T>A (p.Phe252Leu) | |
| X | g.80026823T>C | CA517403081 | TBX22 | c.753T>C (p.Phe251=) c.*365T>C (n.*365T>C) n.632T>C c.393T>C (p.Phe131=) c.756T>C (p.Phe252=) | |
| X | g.80026823T>G | CA413740875 | TBX22 | c.753T>G (p.Phe251Leu) c.*365T>G (n.*365T>G) n.632T>G c.393T>G (p.Phe131Leu) c.756T>G (p.Phe252Leu) | |
| X | g.80026824A>C | CA413740876 | TBX22 | c.754A>C (p.Lys252Gln) c.*366A>C (n.*366A>C) n.633A>C c.394A>C (p.Lys132Gln) c.757A>C (p.Lys253Gln) | |
| X | g.80026824A>G | CA413740877 | TBX22 | c.754A>G (p.Lys252Glu) c.*366A>G (n.*366A>G) n.633A>G c.394A>G (p.Lys132Glu) c.757A>G (p.Lys253Glu) | |
| X | g.80026824A>T | CA413740878 | TBX22 | c.754A>T (p.Lys252Ter) c.*366A>T (n.*366A>T) n.633A>T c.394A>T (p.Lys132Ter) c.757A>T (p.Lys253Ter) | |
| X | g.80026825A>C | CA413740879 | TBX22 | c.755A>C (p.Lys252Thr) c.*367A>C (n.*367A>C) n.634A>C c.395A>C (p.Lys132Thr) c.758A>C (p.Lys253Thr) | |
| X | g.80026825A>G | CA413740880 | TBX22 | c.755A>G (p.Lys252Arg) c.*367A>G (n.*367A>G) n.634A>G c.395A>G (p.Lys132Arg) c.758A>G (p.Lys253Arg) | |
| X | g.80026825A>T | CA413740881 | TBX22 | c.755A>T (p.Lys252Ile) c.*367A>T (n.*367A>T) n.634A>T c.395A>T (p.Lys132Ile) c.758A>T (p.Lys253Ile) | |
| X | g.80026826A>C | CA413740882 | TBX22 | c.756A>C (p.Lys252Asn) c.*368A>C (n.*368A>C) n.635A>C c.396A>C (p.Lys132Asn) c.759A>C (p.Lys253Asn) | |
| X | g.80026826A>G | CA517403082 | TBX22 | c.756A>G (p.Lys252=) c.*368A>G (n.*368A>G) n.635A>G c.396A>G (p.Lys132=) c.759A>G (p.Lys253=) | |
| X | g.80026826A>T | CA413740883 | TBX22 | c.756A>T (p.Lys252Asn) c.*368A>T (n.*368A>T) n.635A>T c.396A>T (p.Lys132Asn) c.759A>T (p.Lys253Asn) | |
| X | g.80026827G>A | CA331778193 | TBX22 | c.757G>A (p.Glu253Lys) c.*369G>A (n.*369G>A) n.636G>A c.397G>A (p.Glu133Lys) c.760G>A (p.Glu254Lys) | dbSNP |
| X | g.80026827G>C | CA413740885 | TBX22 | c.757G>C (p.Glu253Gln) c.*369G>C (n.*369G>C) n.636G>C c.397G>C (p.Glu133Gln) c.760G>C (p.Glu254Gln) | |
| X | g.80026827G= | CA2439980772 | TBX22 | c.757G= (p.Glu253=) c.*369G= (n.*369G=) n.636G= c.397G= (p.Glu133=) c.760G= (p.Glu254=) | |
| X | g.80026827G>T | CA413740884 | TBX22 | c.757G>T (p.Glu253Ter) c.*369G>T (n.*369G>T) n.636G>T c.397G>T (p.Glu133Ter) c.760G>T (p.Glu254Ter) | |
| X | g.80026828A>C | CA413740886 | TBX22 | c.758A>C (p.Glu253Ala) c.*370A>C (n.*370A>C) n.637A>C c.398A>C (p.Glu133Ala) c.761A>C (p.Glu254Ala) | |
| X | g.80026828A>G | CA413740887 | TBX22 | c.758A>G (p.Glu253Gly) c.*370A>G (n.*370A>G) n.637A>G c.398A>G (p.Glu133Gly) c.761A>G (p.Glu254Gly) | |
| X | g.80026828A>T | CA413740888 | TBX22 | c.758A>T (p.Glu253Val) c.*370A>T (n.*370A>T) n.637A>T c.398A>T (p.Glu133Val) c.761A>T (p.Glu254Val) | |
| X | g.80026829A>C | CA413740889 | TBX22 | c.759A>C (p.Glu253Asp) c.*371A>C (n.*371A>C) n.638A>C c.399A>C (p.Glu133Asp) c.762A>C (p.Glu254Asp) | |
| X | g.80026829A>G | CA517403083 | TBX22 | c.759A>G (p.Glu253=) c.*371A>G (n.*371A>G) n.638A>G c.399A>G (p.Glu133=) c.762A>G (p.Glu254=) | |
| X | g.80026829A>T | CA413740890 | TBX22 | c.759A>T (p.Glu253Asp) c.*371A>T (n.*371A>T) n.638A>T c.399A>T (p.Glu133Asp) c.762A>T (p.Glu254Asp) | |
| X | g.80026830A>C | CA413740891 | TBX22 | c.760A>C (p.Thr254Pro) c.*372A>C (n.*372A>C) n.639A>C c.400A>C (p.Thr134Pro) c.763A>C (p.Thr255Pro) | |
| X | g.80026830A>G | CA413740892 | TBX22 | c.760A>G (p.Thr254Ala) c.*372A>G (n.*372A>G) n.639A>G c.400A>G (p.Thr134Ala) c.763A>G (p.Thr255Ala) | |
| X | g.80026830A>T | CA413740893 | TBX22 | c.760A>T (p.Thr254Ser) c.*372A>T (n.*372A>T) n.639A>T c.400A>T (p.Thr134Ser) c.763A>T (p.Thr255Ser) | |
| X | g.80026831C>A | CA413740894 | TBX22 | c.761C>A (p.Thr254Asn) c.*373C>A (n.*373C>A) n.640C>A c.401C>A (p.Thr134Asn) c.764C>A (p.Thr255Asn) | |
| X | g.80026831C>G | CA413740895 | TBX22 | c.761C>G (p.Thr254Ser) c.*373C>G (n.*373C>G) n.640C>G c.401C>G (p.Thr134Ser) c.764C>G (p.Thr255Ser) | |
| X | g.80026831C>T | CA413740896 | TBX22 | c.761C>T (p.Thr254Ile) c.*373C>T (n.*373C>T) n.640C>T c.401C>T (p.Thr134Ile) c.764C>T (p.Thr255Ile) | |
| X | g.80026832del | CA2694191737 | TBX22 | c.762del (p.Glu255SerfsTer5) c.*374del (n.*374del) n.641del c.402del (p.Glu135SerfsTer5) c.765del (p.Glu256SerfsTer5) | gnomAD v4 |
| X | g.80026832T>A | CA517403084 | TBX22 | c.762T>A (p.Thr254=) c.*374T>A (n.*374T>A) n.641T>A c.402T>A (p.Thr134=) c.765T>A (p.Thr255=) | |
| X | g.80026832T>C | CA517403086 | TBX22 | c.762T>C (p.Thr254=) c.*374T>C (n.*374T>C) n.641T>C c.402T>C (p.Thr134=) c.765T>C (p.Thr255=) | |
| X | g.80026832T>G | CA517403085 | TBX22 | c.762T>G (p.Thr254=) c.*374T>G (n.*374T>G) n.641T>G c.402T>G (p.Thr134=) c.765T>G (p.Thr255=) | |
| X | g.80026833G>A | CA413740898 | TBX22 | c.763G>A (p.Glu255Lys) c.*375G>A (n.*375G>A) n.642G>A c.403G>A (p.Glu135Lys) c.766G>A (p.Glu256Lys) | COSMIC |
| X | g.80026833G>C | CA413740899 | TBX22 | c.763G>C (p.Glu255Gln) c.*375G>C (n.*375G>C) n.642G>C c.403G>C (p.Glu135Gln) c.766G>C (p.Glu256Gln) | |
| X | g.80026833G>T | CA413740897 | TBX22 | c.763G>T (p.Glu255Ter) c.*375G>T (n.*375G>T) n.642G>T c.403G>T (p.Glu135Ter) c.766G>T (p.Glu256Ter) | |
| X | g.80026834A= | CA2439980773 | TBX22 | c.764A= (p.Glu255=) c.*376A= (n.*376A=) n.643A= c.404A= (p.Glu135=) c.767A= (p.Glu256=) | |
| X | g.80026834A>C | CA413740900 | TBX22 | c.764A>C (p.Glu255Ala) c.*376A>C (n.*376A>C) n.643A>C c.404A>C (p.Glu135Ala) c.767A>C (p.Glu256Ala) | gnomAD v4 |
| X | g.80026834A>G | CA10461290 | TBX22 | c.764A>G (p.Glu255Gly) c.*376A>G (n.*376A>G) n.643A>G c.404A>G (p.Glu135Gly) c.767A>G (p.Glu256Gly) | dbSNP ExAC |
| X | g.80026834A>T | CA413740901 | TBX22 | c.764A>T (p.Glu255Val) c.*376A>T (n.*376A>T) n.643A>T c.404A>T (p.Glu135Val) c.767A>T (p.Glu256Val) | |
| X | g.80026835G>A | CA517403087 | TBX22 | c.765G>A (p.Glu255=) c.*377G>A (n.*377G>A) n.644G>A c.405G>A (p.Glu135=) c.768G>A (p.Glu256=) | |
| X | g.80026835G>C | CA413740902 | TBX22 | c.765G>C (p.Glu255Asp) c.*377G>C (n.*377G>C) n.644G>C c.405G>C (p.Glu135Asp) c.768G>C (p.Glu256Asp) | |
| X | g.80026835G>T | CA413740903 | TBX22 | c.765G>T (p.Glu255Asp) c.*377G>T (n.*377G>T) n.644G>T c.405G>T (p.Glu135Asp) c.768G>T (p.Glu256Asp) | |
| X | g.80026836T>A | CA413740904 | TBX22 | c.766T>A (p.Phe256Ile) c.*378T>A (n.*378T>A) n.645T>A c.406T>A (p.Phe136Ile) c.769T>A (p.Phe257Ile) | ClinVar dbSNP |
| X | g.80026836T>C | CA413740905 | TBX22 | c.766T>C (p.Phe256Leu) c.*378T>C (n.*378T>C) n.645T>C c.406T>C (p.Phe136Leu) c.769T>C (p.Phe257Leu) | |
| X | g.80026836T>G | CA413740906 | TBX22 | c.766T>G (p.Phe256Val) c.*378T>G (n.*378T>G) n.645T>G c.406T>G (p.Phe136Val) c.769T>G (p.Phe257Val) | |
| X | g.80026837T>A | CA413740907 | TBX22 | c.767T>A (p.Phe256Tyr) c.*379T>A (n.*379T>A) n.646T>A c.407T>A (p.Phe136Tyr) c.770T>A (p.Phe257Tyr) | |
| X | g.80026837T>C | CA413740908 | TBX22 | c.767T>C (p.Phe256Ser) c.*379T>C (n.*379T>C) n.646T>C c.407T>C (p.Phe136Ser) c.770T>C (p.Phe257Ser) | |
| X | g.80026837T>G | CA413740909 | TBX22 | c.767T>G (p.Phe256Cys) c.*379T>G (n.*379T>G) n.646T>G c.407T>G (p.Phe136Cys) c.770T>G (p.Phe257Cys) | |
| X | g.80026838C>A | CA413740910 | TBX22 | c.768C>A (p.Phe256Leu) c.*380C>A (n.*380C>A) n.647C>A c.408C>A (p.Phe136Leu) c.771C>A (p.Phe257Leu) | |
| X | g.80026838C= | CA2439980774 | TBX22 | c.768C= (p.Phe256=) c.*380C= (n.*380C=) n.647C= c.408C= (p.Phe136=) c.771C= (p.Phe257=) | |
| X | g.80026838C>G | CA413740911 | TBX22 | c.768C>G (p.Phe256Leu) c.*380C>G (n.*380C>G) n.647C>G c.408C>G (p.Phe136Leu) c.771C>G (p.Phe257Leu) | |
| X | g.80026838C>T | CA517403088 | TBX22 | c.768C>T (p.Phe256=) c.*380C>T (n.*380C>T) n.647C>T c.408C>T (p.Phe136=) c.771C>T (p.Phe257=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.80026839A>C | CA413740914 | TBX22 | c.769A>C (p.Thr257Pro) c.*381A>C (n.*381A>C) n.648A>C c.409A>C (p.Thr137Pro) c.772A>C (p.Thr258Pro) | |
| X | g.80026839A>G | CA413740913 | TBX22 | c.769A>G (p.Thr257Ala) c.*381A>G (n.*381A>G) n.648A>G c.409A>G (p.Thr137Ala) c.772A>G (p.Thr258Ala) | gnomAD v4 |
| X | g.80026839A>T | CA413740912 | TBX22 | c.769A>T (p.Thr257Ser) c.*381A>T (n.*381A>T) n.648A>T c.409A>T (p.Thr137Ser) c.772A>T (p.Thr258Ser) | |
| X | g.80026840C>A | CA413740915 | TBX22 | c.770C>A (p.Thr257Asn) c.*382C>A (n.*382C>A) n.649C>A c.410C>A (p.Thr137Asn) c.773C>A (p.Thr258Asn) | |
| X | g.80026840C= | CA2439980775 | TBX22 | c.770C= (p.Thr257=) c.*382C= (n.*382C=) n.649C= c.410C= (p.Thr137=) c.773C= (p.Thr258=) | |
| X | g.80026840C>G | CA10461292 | TBX22 | c.770C>G (p.Thr257Ser) c.*382C>G (n.*382C>G) n.649C>G c.410C>G (p.Thr137Ser) c.773C>G (p.Thr258Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.80026840C>T | CA10461291 | TBX22 | c.770C>T (p.Thr257Ile) c.*382C>T (n.*382C>T) n.649C>T c.410C>T (p.Thr137Ile) c.773C>T (p.Thr258Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.80026840_80026841insACCCAA | CA2822025073 | TBX22 | c.770_771insACCCAA (p.Thr257_Thr258insProAsn) c.*382_*383insACCCAA (n.*382_*383insACCCAA) n.649_650insACCCAA c.410_411insACCCAA (p.Thr137_Thr138insProAsn) c.773_774insACCCAA (p.Thr258_Thr259insProAsn) | |
| X | g.80026841C>A | CA517403089 | TBX22 | c.771C>A (p.Thr257=) c.*383C>A (n.*383C>A) n.650C>A c.411C>A (p.Thr137=) c.774C>A (p.Thr258=) | |
| X | g.80026841C>G | CA517403090 | TBX22 | c.771C>G (p.Thr257=) c.*383C>G (n.*383C>G) n.650C>G c.411C>G (p.Thr137=) c.774C>G (p.Thr258=) | |
| X | g.80026841C>T | CA517403091 | TBX22 | c.771C>T (p.Thr257=) c.*383C>T (n.*383C>T) n.650C>T c.411C>T (p.Thr137=) c.774C>T (p.Thr258=) | |
| X | g.80026841_80026842insCAAC | CA2822025074 | TBX22 | c.771_772insCAAC (p.Thr258GlnfsTer23) c.*383_*384insCAAC (n.*383_*384insCAAC) n.650_651insCAAC c.411_412insCAAC (p.Thr138GlnfsTer23) c.774_775insCAAC (p.Thr259GlnfsTer23) | |
| X | g.80026842A>C | CA413740916 | TBX22 | c.772A>C (p.Thr258Pro) c.*384A>C (n.*384A>C) n.651A>C c.412A>C (p.Thr138Pro) c.775A>C (p.Thr259Pro) | |
| X | g.80026842A>G | CA413740917 | TBX22 | c.772A>G (p.Thr258Ala) c.*384A>G (n.*384A>G) n.651A>G c.412A>G (p.Thr138Ala) c.775A>G (p.Thr259Ala) | gnomAD v4 |
| X | g.80026842A>T | CA413740918 | TBX22 | c.772A>T (p.Thr258Ser) c.*384A>T (n.*384A>T) n.651A>T c.412A>T (p.Thr138Ser) c.775A>T (p.Thr259Ser) | gnomAD v4 |
| X | g.80026843C>A | CA413740919 | TBX22 | c.773C>A (p.Thr258Lys) c.*385C>A (n.*385C>A) n.652C>A c.413C>A (p.Thr138Lys) c.776C>A (p.Thr259Lys) | |
| X | g.80026843C= | CA2439980776 | TBX22 | c.773C= (p.Thr258=) c.*385C= (n.*385C=) n.652C= c.413C= (p.Thr138=) c.776C= (p.Thr259=) | |
| X | g.80026843C>G | CA413740920 | TBX22 | c.773C>G (p.Thr258Arg) c.*385C>G (n.*385C>G) n.652C>G c.413C>G (p.Thr138Arg) c.776C>G (p.Thr259Arg) | |
| X | g.80026843C>T | CA10461293 | TBX22 | c.773C>T (p.Thr258Ile) c.*385C>T (n.*385C>T) n.652C>T c.413C>T (p.Thr138Ile) c.776C>T (p.Thr259Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.80026844A= | CA2439980777 | TBX22 | c.774A= (p.Thr258=) c.*386A= (n.*386A=) n.653A= c.414A= (p.Thr138=) c.777A= (p.Thr259=) | |
| X | g.80026844A>C | CA10461294 | TBX22 | c.774A>C (p.Thr258=) c.*386A>C (n.*386A>C) n.653A>C c.414A>C (p.Thr138=) c.777A>C (p.Thr259=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.80026844A>G | CA517403093 | TBX22 | c.774A>G (p.Thr258=) c.*386A>G (n.*386A>G) n.653A>G c.414A>G (p.Thr138=) c.777A>G (p.Thr259=) | |
| X | g.80026844A>T | CA517403092 | TBX22 | c.774A>T (p.Thr258=) c.*386A>T (n.*386A>T) n.653A>T c.414A>T (p.Thr138=) c.777A>T (p.Thr259=) | gnomAD v4 |
| X | g.80026845G>A | CA413740921 | TBX22 | c.775G>A (p.Val259Ile) c.*387G>A (n.*387G>A) n.654G>A c.415G>A (p.Val139Ile) c.778G>A (p.Val260Ile) | |
| X | g.80026845G>C | CA413740922 | TBX22 | c.775G>C (p.Val259Leu) c.*387G>C (n.*387G>C) n.654G>C c.415G>C (p.Val139Leu) c.778G>C (p.Val260Leu) | COSMIC |
| X | g.80026845G>T | CA413740923 | TBX22 | c.775G>T (p.Val259Leu) c.*387G>T (n.*387G>T) n.654G>T c.415G>T (p.Val139Leu) c.778G>T (p.Val260Leu) | |
| X | g.80026846T>A | CA413740925 | TBX22 | c.776T>A (p.Val259Glu) c.*388T>A (n.*388T>A) n.655T>A c.416T>A (p.Val139Glu) c.779T>A (p.Val260Glu) | |
| X | g.80026846T>C | CA413740926 | TBX22 | c.776T>C (p.Val259Ala) c.*388T>C (n.*388T>C) n.655T>C c.416T>C (p.Val139Ala) c.779T>C (p.Val260Ala) | |
| X | g.80026846T>G | CA413740924 | TBX22 | c.776T>G (p.Val259Gly) c.*388T>G (n.*388T>G) n.655T>G c.416T>G (p.Val139Gly) c.779T>G (p.Val260Gly) | |
| X | g.80026847A>C | CA517403094 | TBX22 | c.777A>C (p.Val259=) c.*389A>C (n.*389A>C) n.656A>C c.417A>C (p.Val139=) c.780A>C (p.Val260=) | |
| X | g.80026847A>G | CA517403095 | TBX22 | c.777A>G (p.Val259=) c.*389A>G (n.*389A>G) n.656A>G c.417A>G (p.Val139=) c.780A>G (p.Val260=) | |
| X | g.80026847A>T | CA517403096 | TBX22 | c.777A>T (p.Val259=) c.*389A>T (n.*389A>T) n.656A>T c.417A>T (p.Val139=) c.780A>T (p.Val260=) | |
| X | g.80026848A>C | CA413740928 | TBX22 | c.778A>C (p.Thr260Pro) c.*390A>C (n.*390A>C) n.657A>C c.418A>C (p.Thr140Pro) c.781A>C (p.Thr261Pro) | |
| X | g.80026848A>G | CA413740927 | TBX22 | c.778A>G (p.Thr260Ala) c.*390A>G (n.*390A>G) n.657A>G c.418A>G (p.Thr140Ala) c.781A>G (p.Thr261Ala) | |
| X | g.80026848A>T | CA413740929 | TBX22 | c.778A>T (p.Thr260Ser) c.*390A>T (n.*390A>T) n.657A>T c.418A>T (p.Thr140Ser) c.781A>T (p.Thr261Ser) | |
| X | g.80026849C>A | CA413740930 | TBX22 | c.779C>A (p.Thr260Lys) c.*391C>A (n.*391C>A) n.658C>A c.419C>A (p.Thr140Lys) c.782C>A (p.Thr261Lys) | |
| X | g.80026849C= | CA2439980778 | TBX22 | c.779C= (p.Thr260=) c.*391C= (n.*391C=) n.658C= c.419C= (p.Thr140=) c.782C= (p.Thr261=) | |
| X | g.80026849C>G | CA413740931 | TBX22 | c.779C>G (p.Thr260Arg) c.*391C>G (n.*391C>G) n.658C>G c.419C>G (p.Thr140Arg) c.782C>G (p.Thr261Arg) | |
| X | g.80026849C>T | CA121423 | TBX22 | c.779C>T (p.Thr260Met) c.*391C>T (n.*391C>T) n.658C>T c.419C>T (p.Thr140Met) c.782C>T (p.Thr261Met) | ClinVar dbSNP COSMIC |
| X | g.80026850G>A | CA10461295 | TBX22 | c.780G>A (p.Thr260=) c.*392G>A (n.*392G>A) n.659G>A c.420G>A (p.Thr140=) c.783G>A (p.Thr261=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.80026850G>C | CA517403097 | TBX22 | c.780G>C (p.Thr260=) c.*392G>C (n.*392G>C) n.659G>C c.420G>C (p.Thr140=) c.783G>C (p.Thr261=) | |
| X | g.80026850G= | CA2439980779 | TBX22 | c.780G= (p.Thr260=) c.*392G= (n.*392G=) n.659G= c.420G= (p.Thr140=) c.783G= (p.Thr261=) | |
| X | g.80026850G>T | CA517403098 | TBX22 | c.780G>T (p.Thr260=) c.*392G>T (n.*392G>T) n.659G>T c.420G>T (p.Thr140=) c.783G>T (p.Thr261=) | |
| X | g.80026851G>A | CA413740932 | TBX22 | c.781G>A (p.Ala261Thr) c.*393G>A (n.*393G>A) n.660G>A c.421G>A (p.Ala141Thr) c.784G>A (p.Ala262Thr) | |
| X | g.80026851G>C | CA413740933 | TBX22 | c.781G>C (p.Ala261Pro) c.*393G>C (n.*393G>C) n.660G>C c.421G>C (p.Ala141Pro) c.784G>C (p.Ala262Pro) | |
| X | g.80026851G>T | CA413740934 | TBX22 | c.781G>T (p.Ala261Ser) c.*393G>T (n.*393G>T) n.660G>T c.421G>T (p.Ala141Ser) c.784G>T (p.Ala262Ser) | gnomAD v3 gnomAD v4 |
| X | g.80026852C>A | CA413740935 | TBX22 | c.782C>A (p.Ala261Asp) c.*394C>A (n.*394C>A) n.661C>A c.422C>A (p.Ala141Asp) c.785C>A (p.Ala262Asp) | |
| X | g.80026852C>G | CA413740936 | TBX22 | c.782C>G (p.Ala261Gly) c.*394C>G (n.*394C>G) n.661C>G c.422C>G (p.Ala141Gly) c.785C>G (p.Ala262Gly) | |
| X | g.80026852C>T | CA413740937 | TBX22 | c.782C>T (p.Ala261Val) c.*394C>T (n.*394C>T) n.661C>T c.422C>T (p.Ala141Val) c.785C>T (p.Ala262Val) | gnomAD v4 |
| X | g.80026853T>A | CA517403101 | TBX22 | c.783T>A (p.Ala261=) c.*395T>A (n.*395T>A) n.662T>A c.423T>A (p.Ala141=) c.786T>A (p.Ala262=) | |
| X | g.80026853T>C | CA517403100 | TBX22 | c.783T>C (p.Ala261=) c.*395T>C (n.*395T>C) n.662T>C c.423T>C (p.Ala141=) c.786T>C (p.Ala262=) | |
| X | g.80026853T>G | CA517403099 | TBX22 | c.783T>G (p.Ala261=) c.*395T>G (n.*395T>G) n.662T>G c.423T>G (p.Ala141=) c.786T>G (p.Ala262=) | |
| X | g.80026854T>A | CA413740938 | TBX22 | c.784T>A (p.Tyr262Asn) c.*396T>A (n.*396T>A) n.663T>A c.424T>A (p.Tyr142Asn) c.787T>A (p.Tyr263Asn) | |
| X | g.80026854T>C | CA413740939 | TBX22 | c.784T>C (p.Tyr262His) c.*396T>C (n.*396T>C) n.663T>C c.424T>C (p.Tyr142His) c.787T>C (p.Tyr263His) | |
| X | g.80026854T>G | CA413740940 | TBX22 | c.784T>G (p.Tyr262Asp) c.*396T>G (n.*396T>G) n.663T>G c.424T>G (p.Tyr142Asp) c.787T>G (p.Tyr263Asp) | |
| X | g.80026855A>C | CA413740941 | TBX22 | c.785A>C (p.Tyr262Ser) c.*397A>C (n.*397A>C) n.664A>C c.425A>C (p.Tyr142Ser) c.788A>C (p.Tyr263Ser) | |
| X | g.80026855A>G | CA413740943 | TBX22 | c.785A>G (p.Tyr262Cys) c.*397A>G (n.*397A>G) n.664A>G c.425A>G (p.Tyr142Cys) c.788A>G (p.Tyr263Cys) | |
| X | g.80026855A>T | CA413740942 | TBX22 | c.785A>T (p.Tyr262Phe) c.*397A>T (n.*397A>T) n.664A>T c.425A>T (p.Tyr142Phe) c.788A>T (p.Tyr263Phe) | |
| X | g.80026856C>A | CA413740944 | TBX22 | c.786C>A (p.Tyr262Ter) c.*398C>A (n.*398C>A) n.665C>A c.426C>A (p.Tyr142Ter) c.789C>A (p.Tyr263Ter) | |
| X | g.80026856C>G | CA413740945 | TBX22 | c.786C>G (p.Tyr262Ter) c.*398C>G (n.*398C>G) n.665C>G c.426C>G (p.Tyr142Ter) c.789C>G (p.Tyr263Ter) | |
| X | g.80026856C>T | CA517403102 | TBX22 | c.786C>T (p.Tyr262=) c.*398C>T (n.*398C>T) n.665C>T c.426C>T (p.Tyr142=) c.789C>T (p.Tyr263=) | |
| X | g.80026857C>A | CA413740946 | TBX22 | c.787C>A (p.Gln263Lys) c.*399C>A (n.*399C>A) n.666C>A c.427C>A (p.Gln143Lys) c.790C>A (p.Gln264Lys) | ClinVar dbSNP |
| X | g.80026857C= | CA2439980780 | TBX22 | c.787C= (p.Gln263=) c.*399C= (n.*399C=) n.666C= c.427C= (p.Gln143=) c.790C= (p.Gln264=) | |
| X | g.80026857C>G | CA413740947 | TBX22 | c.787C>G (p.Gln263Glu) c.*399C>G (n.*399C>G) n.666C>G c.427C>G (p.Gln143Glu) c.790C>G (p.Gln264Glu) | |
| X | g.80026857C>T | CA413740948 | TBX22 | c.787C>T (p.Gln263Ter) c.*399C>T (n.*399C>T) n.666C>T c.427C>T (p.Gln143Ter) c.790C>T (p.Gln264Ter) | |
| X | g.80026858A>C | CA413740949 | TBX22 | c.788A>C (p.Gln263Pro) c.*400A>C (n.*400A>C) n.667A>C c.428A>C (p.Gln143Pro) c.791A>C (p.Gln264Pro) | gnomAD v4 |
| X | g.80026858A>G | CA413740950 | TBX22 | c.788A>G (p.Gln263Arg) c.*400A>G (n.*400A>G) n.667A>G c.428A>G (p.Gln143Arg) c.791A>G (p.Gln264Arg) | |
| X | g.80026858A>T | CA413740951 | TBX22 | c.788A>T (p.Gln263Leu) c.*400A>T (n.*400A>T) n.667A>T c.428A>T (p.Gln143Leu) c.791A>T (p.Gln264Leu) | |
| X | g.80026859A>C | CA413740952 | TBX22 | c.789A>C (p.Gln263His) c.*401A>C (n.*401A>C) n.668A>C c.429A>C (p.Gln143His) c.792A>C (p.Gln264His) | |
| X | g.80026859A>G | CA517403103 | TBX22 | c.789A>G (p.Gln263=) c.*401A>G (n.*401A>G) n.668A>G c.429A>G (p.Gln143=) c.792A>G (p.Gln264=) | |
| X | g.80026859A>T | CA413740953 | TBX22 | c.789A>T (p.Gln263His) c.*401A>T (n.*401A>T) n.668A>T c.429A>T (p.Gln143His) c.792A>T (p.Gln264His) | |
| X | g.80026860A= | CA2439980781 | TBX22 | c.790A= (p.Asn264=) c.*402A= (n.*402A=) n.669A= c.430A= (p.Asn144=) c.793A= (p.Asn265=) | |
| X | g.80026860A>C | CA413740954 | TBX22 | c.790A>C (p.Asn264His) c.*402A>C (n.*402A>C) n.669A>C c.430A>C (p.Asn144His) c.793A>C (p.Asn265His) | |
| X | g.80026860A>G | CA413740955 | TBX22 | c.790A>G (p.Asn264Asp) c.*402A>G (n.*402A>G) n.669A>G c.430A>G (p.Asn144Asp) c.793A>G (p.Asn265Asp) | |
| X | g.80026860A>T | CA121428 | TBX22 | c.790A>T (p.Asn264Tyr) c.*402A>T (n.*402A>T) n.669A>T c.430A>T (p.Asn144Tyr) c.793A>T (p.Asn265Tyr) | ClinVar dbSNP gnomAD v4 |
| X | g.80026861A>C | CA413740956 | TBX22 | c.791A>C (p.Asn264Thr) c.*403A>C (n.*403A>C) n.670A>C c.431A>C (p.Asn144Thr) c.794A>C (p.Asn265Thr) | |
| X | g.80026861A>G | CA413740957 | TBX22 | c.791A>G (p.Asn264Ser) c.*403A>G (n.*403A>G) n.670A>G c.431A>G (p.Asn144Ser) c.794A>G (p.Asn265Ser) | |
| X | g.80026861A>T | CA413740958 | TBX22 | c.791A>T (p.Asn264Ile) c.*403A>T (n.*403A>T) n.670A>T c.431A>T (p.Asn144Ile) c.794A>T (p.Asn265Ile) | |
| X | g.80026862C>A | CA413740959 | TBX22 | c.792C>A (p.Asn264Lys) c.*404C>A (n.*404C>A) n.671C>A c.432C>A (p.Asn144Lys) c.795C>A (p.Asn265Lys) | |
| X | g.80026862C>G | CA413740960 | TBX22 | c.792C>G (p.Asn264Lys) c.*404C>G (n.*404C>G) n.671C>G c.432C>G (p.Asn144Lys) c.795C>G (p.Asn265Lys) | |
| X | g.80026862C>T | CA517403104 | TBX22 | c.792C>T (p.Asn264=) c.*404C>T (n.*404C>T) n.671C>T c.432C>T (p.Asn144=) c.795C>T (p.Asn265=) | |
| X | g.80026862_80026863insACC | CA2822025076 | TBX22 | c.792_793insACC (p.Asn264_Gln265insThr) c.*404_*405insACC (n.*404_*405insACC) n.671_672insACC c.432_433insACC (p.Asn144_Gln145insThr) c.795_796insACC (p.Asn265_Gln266insThr) | |
| X | g.80026863dup | CA2822025075 | TBX22 | c.793dup (p.Gln265ProfsTer15) c.*405dup (n.*405dup) n.672dup c.433dup (p.Gln145ProfsTer15) c.796dup (p.Gln266ProfsTer15) | |
| X | g.80026863C>A | CA413740961 | TBX22 | c.793C>A (p.Gln265Lys) c.*405C>A (n.*405C>A) n.672C>A c.433C>A (p.Gln145Lys) c.796C>A (p.Gln266Lys) | |
| X | g.80026863C>G | CA413740962 | TBX22 | c.793C>G (p.Gln265Glu) c.*405C>G (n.*405C>G) n.672C>G c.433C>G (p.Gln145Glu) c.796C>G (p.Gln266Glu) | |
| X | g.80026863C>T | CA413740963 | TBX22 | c.793C>T (p.Gln265Ter) c.*405C>T (n.*405C>T) n.672C>T c.433C>T (p.Gln145Ter) c.796C>T (p.Gln266Ter) | |
| X | g.80026864A= | CA2439980782 | TBX22 | c.794A= (p.Gln265=) c.*406A= (n.*406A=) n.673A= c.434A= (p.Gln145=) c.797A= (p.Gln266=) | |
| X | g.80026864A>C | CA413740964 | TBX22 | c.794A>C (p.Gln265Pro) c.*406A>C (n.*406A>C) n.673A>C c.434A>C (p.Gln145Pro) c.797A>C (p.Gln266Pro) | |
| X | g.80026864A>G | CA413740965 | TBX22 | c.794A>G (p.Gln265Arg) c.*406A>G (n.*406A>G) n.673A>G c.434A>G (p.Gln145Arg) c.797A>G (p.Gln266Arg) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.80026864A>T | CA413740966 | TBX22 | c.794A>T (p.Gln265Leu) c.*406A>T (n.*406A>T) n.673A>T c.434A>T (p.Gln145Leu) c.797A>T (p.Gln266Leu) | |
| X | g.80026864_80026865insCAACCAAACACACCCAAC | CA2822025079 | TBX22 | c.794_795insCAACCAAACACACCCAAC (p.Gln265delinsHisAsnGlnThrHisProThr) c.*406_*407insCAACCAAACACACCCAAC (n.*406_*407insCAACCAAACACACCCAAC) n.673_674insCAACCAAACACACCCAAC c.434_435insCAACCAAACACACCCAAC (p.Gln145delinsHisAsnGlnThrHisProThr) c.797_798insCAACCAAACACACCCAAC (p.Gln266delinsHisAsnGlnThrHisProThr) | |
| X | g.80026865A>C | CA413740967 | TBX22 | c.795A>C (p.Gln265His) c.*407A>C (n.*407A>C) n.674A>C c.435A>C (p.Gln145His) c.798A>C (p.Gln266His) | |
| X | g.80026865A>G | CA517403105 | TBX22 | c.795A>G (p.Gln265=) c.*407A>G (n.*407A>G) n.674A>G c.435A>G (p.Gln145=) c.798A>G (p.Gln266=) | |
| X | g.80026865A>T | CA413740968 | TBX22 | c.795A>T (p.Gln265His) c.*407A>T (n.*407A>T) n.674A>T c.435A>T (p.Gln145His) c.798A>T (p.Gln266His) | |
| X | g.80026866_80026867insCAAACACACCCAACAC | CA2822025078 | TBX22 | c.796_797insCAAACACACCCAACAC (p.Gln266ProfsTer19) c.*408_*409insCAAACACACCCAACAC (n.*408_*409insCAAACACACCCAACAC) n.675_676insCAAACACACCCAACAC c.436_437insCAAACACACCCAACAC (p.Gln146ProfsTer19) c.799_800insCAAACACACCCAACAC (p.Gln267ProfsTer19) | |
| X | g.80026866_80026867dup | CA2822025077 | TBX22 | c.796_797dup (p.Gln266HisfsTer6) c.*408_*409dup (n.*408_*409dup) n.675_676dup c.436_437dup (p.Gln146HisfsTer6) c.799_800dup (p.Gln267HisfsTer6) | |
| X | g.80026866C>A | CA413740971 | TBX22 | c.796C>A (p.Gln266Lys) c.*408C>A (n.*408C>A) n.675C>A c.436C>A (p.Gln146Lys) c.799C>A (p.Gln267Lys) | |
| X | g.80026866C= | CA2439980783 | TBX22 | c.796C= (p.Gln266=) c.*408C= (n.*408C=) n.675C= c.436C= (p.Gln146=) c.799C= (p.Gln267=) | |
| X | g.80026866C>G | CA413740970 | TBX22 | c.796C>G (p.Gln266Glu) c.*408C>G (n.*408C>G) n.675C>G c.436C>G (p.Gln146Glu) c.799C>G (p.Gln267Glu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.80026866C>T | CA413740969 | TBX22 | c.796C>T (p.Gln266Ter) c.*408C>T (n.*408C>T) n.675C>T c.436C>T (p.Gln146Ter) c.799C>T (p.Gln267Ter) | |
| X | g.80026867A>C | CA413740972 | TBX22 | c.797A>C (p.Gln266Pro) c.*409A>C (n.*409A>C) n.676A>C c.437A>C (p.Gln146Pro) c.800A>C (p.Gln267Pro) | |
| X | g.80026867A>G | CA413740973 | TBX22 | c.797A>G (p.Gln266Arg) c.*409A>G (n.*409A>G) n.676A>G c.437A>G (p.Gln146Arg) c.800A>G (p.Gln267Arg) | |
| X | g.80026867A>T | CA413740974 | TBX22 | c.797A>T (p.Gln266Leu) c.*409A>T (n.*409A>T) n.676A>T c.437A>T (p.Gln146Leu) c.800A>T (p.Gln267Leu) | |
| X | g.80026868G>A | CA517403106 | TBX22 | c.798G>A (p.Gln266=) c.*410G>A (n.*410G>A) n.677G>A c.438G>A (p.Gln146=) c.801G>A (p.Gln267=) | |
| X | g.80026868G>C | CA413740975 | TBX22 | c.798G>C (p.Gln266His) c.*410G>C (n.*410G>C) n.677G>C c.438G>C (p.Gln146His) c.801G>C (p.Gln267His) | |
| X | g.80026868G>T | CA413740976 | TBX22 | c.798G>T (p.Gln266His) c.*410G>T (n.*410G>T) n.677G>T c.438G>T (p.Gln146His) c.801G>T (p.Gln267His) | |
| X | g.80026869G>A | CA413740977 | TBX22 | c.798+1G>A (n.798+1G>A) c.*410+1G>A (n.*410+1G>A) n.677+1G>A c.438+1G>A (n.438+1G>A) c.801+1G>A (n.801+1G>A) | |
| X | g.80026869G>C | CA413740978 | TBX22 | c.798+1G>C (n.798+1G>C) c.*410+1G>C (n.*410+1G>C) n.677+1G>C c.438+1G>C (n.438+1G>C) c.801+1G>C (n.801+1G>C) | |
| X | g.80026869G>T | CA413740979 | TBX22 | c.798+1G>T (n.798+1G>T) c.*410+1G>T (n.*410+1G>T) n.677+1G>T c.438+1G>T (n.438+1G>T) c.801+1G>T (n.801+1G>T) | |
| X | g.80026870T>A | CA413740980 | TBX22 | c.798+2T>A (n.798+2T>A) c.*410+2T>A (n.*410+2T>A) n.677+2T>A c.438+2T>A (n.438+2T>A) c.801+2T>A (n.801+2T>A) | |
| X | g.80026870T>C | CA413740981 | TBX22 | c.798+2T>C (n.798+2T>C) c.*410+2T>C (n.*410+2T>C) n.677+2T>C c.438+2T>C (n.438+2T>C) c.801+2T>C (n.801+2T>C) | |
| X | g.80026870T>G | CA413740982 | TBX22 | c.798+2T>G (n.798+2T>G) c.*410+2T>G (n.*410+2T>G) n.677+2T>G c.438+2T>G (n.438+2T>G) c.801+2T>G (n.801+2T>G) | |
| X | g.80026873A>T | CA2579651958 | TBX22 | c.798+5A>T (n.798+5A>T) c.*410+5A>T (n.*410+5A>T) n.677+5A>T c.438+5A>T (n.438+5A>T) c.801+5A>T (n.801+5A>T) | |
| X | g.80026874C= | CA2439980784 | TBX22 | c.798+6C= (n.798+6C=) c.*410+6C= (n.*410+6C=) n.677+6C= c.438+6C= (n.438+6C=) c.801+6C= (n.801+6C=) | |
| X | g.80026874C>G | CA2694191743 | TBX22 | c.798+6C>G (n.798+6C>G) c.*410+6C>G (n.*410+6C>G) n.677+6C>G c.438+6C>G (n.438+6C>G) c.801+6C>G (n.801+6C>G) | gnomAD v4 |
| X | g.80026874C>T | CA10461296 | TBX22 | c.798+6C>T (n.798+6C>T) c.*410+6C>T (n.*410+6C>T) n.677+6C>T c.438+6C>T (n.438+6C>T) c.801+6C>T (n.801+6C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |