UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.74180036C>A | CA2629451057 | STRA6 | c.*44G>T (n.*44G>T) n.1757G>T n.2320G>T | gnomAD v4 |
| 15 | g.74180036C= | CA2187549661 | STRA6 | c.*44G= (n.*44G=) n.1757G= n.2320G= | |
| 15 | g.74180036C>G | CA2629451056 | STRA6 | c.*44G>C (n.*44G>C) n.1757G>C n.2320G>C | gnomAD v4 |
| 15 | g.74180036C>T | CA7654362 | STRA6 | c.*44G>A (n.*44G>A) n.1757G>A n.2320G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180037A= | CA2187549662 | STRA6 | c.*43T= (n.*43T=) n.1756T= n.2319T= | |
| 15 | g.74180037A>G | CA272746056 | STRA6 | c.*43T>C (n.*43T>C) n.1756T>C n.2319T>C | dbSNP gnomAD v4 |
| 15 | g.74180037A>T | CA7654363 | STRA6 | c.*43T>A (n.*43T>A) n.1756T>A n.2319T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74180038T>C | CA715610820 | STRA6 | c.*42A>G (n.*42A>G) n.1755A>G n.2318A>G | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74180038T= | CA2187549663 | STRA6 | c.*42A= (n.*42A=) n.1755A= n.2318A= | |
| 15 | g.74180040C>A | CA2629451058 | STRA6 | c.*40G>T (n.*40G>T) n.1753G>T n.2316G>T | gnomAD v4 |
| 15 | g.74180041C>A | CA619411553 | STRA6 | c.*39G>T (n.*39G>T) n.1752G>T n.2315G>T | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74180041C= | CA2187549664 | STRA6 | c.*39G= (n.*39G=) n.1752G= n.2315G= | |
| 15 | g.74180041C>T | CA7654364 | STRA6 | c.*39G>A (n.*39G>A) n.1752G>A n.2315G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180043C>T | CA2629451059 | STRA6 | c.*37G>A (n.*37G>A) n.1750G>A n.2313G>A | gnomAD v4 |
| 15 | g.74180045G>A | CA7654365 | STRA6 | c.*35C>T (n.*35C>T) n.1748C>T n.2311C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180045G>C | CA2575786885 | STRA6 | c.*35C>G (n.*35C>G) n.1748C>G n.2311C>G | |
| 15 | g.74180045G= | CA2187549665 | STRA6 | c.*35C= (n.*35C=) n.1748C= n.2311C= | |
| 15 | g.74180046C>A | CA2629451060 | STRA6 | c.*34G>T (n.*34G>T) n.1747G>T n.2310G>T | gnomAD v4 |
| 15 | g.74180046C= | CA2187549666 | STRA6 | c.*34G= (n.*34G=) n.1747G= n.2310G= | |
| 15 | g.74180046C>T | CA2187549667 | STRA6 | c.*34G>A (n.*34G>A) n.1747G>A n.2310G>A | dbSNP |
| 15 | g.74180047_74180048insTGTTGACCTTCCCTGCCCT | CA2629451061 | STRA6 | c.*32_*33insAGGGCAGGGAAGGTCAACA (n.*32_*33insAGGGCAGGGAAGGTCAACA) n.1745_1746insAGGGCAGGGAAGGTCAACA n.2308_2309insAGGGCAGGGAAGGTCAACA | gnomAD v4 |
| 15 | g.74180048C>A | CA10646596 | STRA6 | c.*32G>T (n.*32G>T) n.1745G>T n.2308G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180048C= | CA2187549668 | STRA6 | c.*32G= (n.*32G=) n.1745G= n.2308G= | |
| 15 | g.74180050G= | CA2187549669 | STRA6 | c.*30C= (n.*30C=) n.1743C= n.2306C= | |
| 15 | g.74180050G>T | CA656215980 | STRA6 | c.*30C>A (n.*30C>A) n.1743C>A n.2306C>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.74180051_74180053del | CA2629451062 | STRA6 | c.*28_*30del (n.*28_*30del) n.1741_1743del n.2304_2306del | gnomAD v4 |
| 15 | g.74180053G>T | CA2629451063 | STRA6 | c.*27C>A (n.*27C>A) n.1740C>A n.2303C>A | gnomAD v4 |
| 15 | g.74180054G>A | CA2187549671 | STRA6 | c.*26C>T (n.*26C>T) n.1739C>T n.2302C>T | dbSNP gnomAD v4 |
| 15 | g.74180054G>C | CA2575786886 | STRA6 | c.*26C>G (n.*26C>G) n.1739C>G n.2302C>G | |
| 15 | g.74180054G= | CA2187549670 | STRA6 | c.*26C= (n.*26C=) n.1739C= n.2302C= | |
| 15 | g.74180056C>A | CA2629451064 | STRA6 | c.*24G>T (n.*24G>T) n.1737G>T n.2300G>T | gnomAD v4 |
| 15 | g.74180057A>T | CA2629451065 | STRA6 | c.*23T>A (n.*23T>A) n.1736T>A n.2299T>A | gnomAD v4 |
| 15 | g.74180061G>T | CA2629451066 | STRA6 | c.*19C>A (n.*19C>A) n.1732C>A n.2295C>A | gnomAD v4 |
| 15 | g.74180062G>A | CA2629451067 | STRA6 | c.*18C>T (n.*18C>T) n.1731C>T n.2294C>T | gnomAD v4 |
| 15 | g.74180062G>C | CA2187549673 | STRA6 | c.*18C>G (n.*18C>G) n.1731C>G n.2294C>G | dbSNP |
| 15 | g.74180062G= | CA2187549672 | STRA6 | c.*18C= (n.*18C=) n.1731C= n.2294C= | |
| 15 | g.74180063G>A | CA2730948704 | STRA6 | c.*17C>T (n.*17C>T) n.1730C>T n.2293C>T | dbSNP |
| 15 | g.74180063G= | CA2187549674 | STRA6 | c.*17C= (n.*17C=) n.1730C= n.2293C= | |
| 15 | g.74180063G>T | CA619411554 | STRA6 | c.*17C>A (n.*17C>A) n.1730C>A n.2293C>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74180064T>C | CA619411555 | STRA6 | c.*16A>G (n.*16A>G) n.1729A>G n.2292A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180064T>G | CA2187549676 | STRA6 | c.*16A>C (n.*16A>C) n.1729A>C n.2292A>C | dbSNP |
| 15 | g.74180064T= | CA2187549675 | STRA6 | c.*16A= (n.*16A=) n.1729A= n.2292A= | |
| 15 | g.74180065T>C | CA2187549678 | STRA6 | c.*15A>G (n.*15A>G) n.1728A>G n.2291A>G | dbSNP gnomAD v4 |
| 15 | g.74180065T>G | CA2629451068 | STRA6 | c.*15A>C (n.*15A>C) n.1728A>C n.2291A>C | gnomAD v4 |
| 15 | g.74180065T= | CA2187549677 | STRA6 | c.*15A= (n.*15A=) n.1728A= n.2291A= | |
| 15 | g.74180068C>A | CA2629451069 | STRA6 | c.*12G>T (n.*12G>T) n.1725G>T n.2288G>T | gnomAD v4 |
| 15 | g.74180069C>T | CA2629451070 | STRA6 | c.*11G>A (n.*11G>A) n.1724G>A n.2287G>A | gnomAD v4 |
| 15 | g.74180070T>C | CA715610830 | STRA6 | c.*10A>G (n.*10A>G) n.1723A>G n.2286A>G | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74180070T>G | CA7654366 | STRA6 | c.*10A>C (n.*10A>C) n.1723A>C n.2286A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180070T= | CA2187549679 | STRA6 | c.*10A= (n.*10A=) n.1723A= n.2286A= | |
| 15 | g.74180071T>G | CA2575786887 | STRA6 | c.*9A>C (n.*9A>C) n.1722A>C n.2285A>C | |
| 15 | g.74180072C= | CA2187549680 | STRA6 | c.*8G= (n.*8G=) n.1721G= n.2284G= | |
| 15 | g.74180072C>T | CA7654367 | STRA6 | c.*8G>A (n.*8G>A) n.1721G>A n.2284G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74180073C= | CA2187549681 | STRA6 | c.*7G= (n.*7G=) n.1720G= n.2283G= | |
| 15 | g.74180073C>T | CA619411556 | STRA6 | c.*7G>A (n.*7G>A) n.1720G>A n.2283G>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74180075T>A | CA2575786888 | STRA6 | c.*5A>T (n.*5A>T) n.1718A>T n.2281A>T | |
| 15 | g.74180076G>A | CA971473791 | STRA6 | c.*4C>T (n.*4C>T) n.1717C>T n.2280C>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74180076G= | CA2187549682 | STRA6 | c.*4C= (n.*4C=) n.1717C= n.2280C= | |
| 15 | g.74180077C>A | CA2629451071 | STRA6 | c.*3G>T (n.*3G>T) n.1716G>T n.2279G>T | gnomAD v4 |
| 15 | g.74180078C= | CA2187549683 | STRA6 | c.*2G= (n.*2G=) n.1715G= n.2278G= | |
| 15 | g.74180078C>T | CA619411557 | STRA6 | c.*2G>A (n.*2G>A) n.1715G>A n.2278G>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74180079C>T | CA2629451072 | STRA6 | c.*1G>A (n.*1G>A) n.1714G>A n.2277G>A | gnomAD v4 |
| 15 | g.74180080T>A | CA393128138 | STRA6 | c.2004A>T (p.Ter668Cys) c.1980A>T (p.Ter660Cys) c.1977A>T (p.Ter659Cys) c.2115A>T (p.Ter705Cys) n.1713A>T c.2121A>T (p.Ter707Cys) c.2049A>T (p.Ter683Cys) n.2276A>T c.1815A>T (p.Ter605Cys) c.2052A>T (p.Ter684Cys) | |
| 15 | g.74180080T>C | CA393128139 | STRA6 | c.2004A>G (p.Ter668Trp) c.1980A>G (p.Ter660Trp) c.1977A>G (p.Ter659Trp) c.2115A>G (p.Ter705Trp) n.1713A>G c.2121A>G (p.Ter707Trp) c.2049A>G (p.Ter683Trp) n.2276A>G c.1815A>G (p.Ter605Trp) c.2052A>G (p.Ter684Trp) | gnomAD v4 |
| 15 | g.74180080T>G | CA393128140 | STRA6 | c.2004A>C (p.Ter668Cys) c.1980A>C (p.Ter660Cys) c.1977A>C (p.Ter659Cys) c.2115A>C (p.Ter705Cys) n.1713A>C c.2121A>C (p.Ter707Cys) c.2049A>C (p.Ter683Cys) n.2276A>C c.1815A>C (p.Ter605Cys) c.2052A>C (p.Ter684Cys) | |
| 15 | g.74180081C>A | CA393128141 | STRA6 | c.2003G>T (p.Ter668Leu) c.1979G>T (p.Ter660Leu) c.1976G>T (p.Ter659Leu) c.2114G>T (p.Ter705Leu) n.1712G>T c.2120G>T (p.Ter707Leu) c.2048G>T (p.Ter683Leu) n.2275G>T c.1814G>T (p.Ter605Leu) c.2051G>T (p.Ter684Leu) | gnomAD v4 |
| 15 | g.74180081C>G | CA393128142 | STRA6 | c.2003G>C (p.Ter668Ser) c.1979G>C (p.Ter660Ser) c.1976G>C (p.Ter659Ser) c.2114G>C (p.Ter705Ser) n.1712G>C c.2120G>C (p.Ter707Ser) c.2048G>C (p.Ter683Ser) n.2275G>C c.1814G>C (p.Ter605Ser) c.2051G>C (p.Ter684Ser) | |
| 15 | g.74180081C>T | CA491170258 | STRA6 | c.2003G>A (p.Ter668=) c.1979G>A (p.Ter660=) c.1976G>A (p.Ter659=) c.2114G>A (p.Ter705=) n.1712G>A c.2120G>A (p.Ter707=) c.2048G>A (p.Ter683=) n.2275G>A c.1814G>A (p.Ter605=) c.2051G>A (p.Ter684=) | |
| 15 | g.74180082A>C | CA393128145 | STRA6 | c.2002T>G (p.Ter668Gly) c.1978T>G (p.Ter660Gly) c.1975T>G (p.Ter659Gly) c.2113T>G (p.Ter705Gly) n.1711T>G c.2119T>G (p.Ter707Gly) c.2047T>G (p.Ter683Gly) n.2274T>G c.1813T>G (p.Ter605Gly) c.2050T>G (p.Ter684Gly) | |
| 15 | g.74180082A>G | CA393128143 | STRA6 | c.2002T>C (p.Ter668Arg) c.1978T>C (p.Ter660Arg) c.1975T>C (p.Ter659Arg) c.2113T>C (p.Ter705Arg) n.1711T>C c.2119T>C (p.Ter707Arg) c.2047T>C (p.Ter683Arg) n.2274T>C c.1813T>C (p.Ter605Arg) c.2050T>C (p.Ter684Arg) | |
| 15 | g.74180082A>T | CA393128144 | STRA6 | c.2002T>A (p.Ter668Arg) c.1978T>A (p.Ter660Arg) c.1975T>A (p.Ter659Arg) c.2113T>A (p.Ter705Arg) n.1711T>A c.2119T>A (p.Ter707Arg) c.2047T>A (p.Ter683Arg) n.2274T>A c.1813T>A (p.Ter605Arg) c.2050T>A (p.Ter684Arg) | |
| 15 | g.74180083G>A | CA7654368 | STRA6 | c.2001C>T (p.Pro667=) c.1977C>T (p.Pro659=) c.1974C>T (p.Pro658=) c.2112C>T (p.Pro704=) n.1710C>T c.2118C>T (p.Pro706=) c.2046C>T (p.Pro682=) n.2273C>T c.1812C>T (p.Pro604=) c.2049C>T (p.Pro683=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180083G>C | CA491170261 | STRA6 | c.2001C>G (p.Pro667=) c.1977C>G (p.Pro659=) c.1974C>G (p.Pro658=) c.2112C>G (p.Pro704=) n.1710C>G c.2118C>G (p.Pro706=) c.2046C>G (p.Pro682=) n.2273C>G c.1812C>G (p.Pro604=) c.2049C>G (p.Pro683=) | |
| 15 | g.74180083G= | CA2187549684 | STRA6 | c.2001C= (p.Pro667=) c.1977C= (p.Pro659=) c.1974C= (p.Pro658=) c.2112C= (p.Pro704=) n.1710C= c.2118C= (p.Pro706=) c.2046C= (p.Pro682=) n.2273C= c.1812C= (p.Pro604=) c.2049C= (p.Pro683=) | |
| 15 | g.74180083G>T | CA491170262 | STRA6 | c.2001C>A (p.Pro667=) c.1977C>A (p.Pro659=) c.1974C>A (p.Pro658=) c.2112C>A (p.Pro704=) n.1710C>A c.2118C>A (p.Pro706=) c.2046C>A (p.Pro682=) n.2273C>A c.1812C>A (p.Pro604=) c.2049C>A (p.Pro683=) | |
| 15 | g.74180084G>A | CA393128146 | STRA6 | c.2000C>T (p.Pro667Leu) c.1976C>T (p.Pro659Leu) c.1973C>T (p.Pro658Leu) c.2111C>T (p.Pro704Leu) n.1709C>T c.2117C>T (p.Pro706Leu) c.2045C>T (p.Pro682Leu) n.2272C>T c.1811C>T (p.Pro604Leu) c.2048C>T (p.Pro683Leu) | |
| 15 | g.74180084G>C | CA393128147 | STRA6 | c.2000C>G (p.Pro667Arg) c.1976C>G (p.Pro659Arg) c.1973C>G (p.Pro658Arg) c.2111C>G (p.Pro704Arg) n.1709C>G c.2117C>G (p.Pro706Arg) c.2045C>G (p.Pro682Arg) n.2272C>G c.1811C>G (p.Pro604Arg) c.2048C>G (p.Pro683Arg) | |
| 15 | g.74180084G>T | CA393128148 | STRA6 | c.2000C>A (p.Pro667His) c.1976C>A (p.Pro659His) c.1973C>A (p.Pro658His) c.2111C>A (p.Pro704His) n.1709C>A c.2117C>A (p.Pro706His) c.2045C>A (p.Pro682His) n.2272C>A c.1811C>A (p.Pro604His) c.2048C>A (p.Pro683His) | |
| 15 | g.74180085G>A | CA272746075 | STRA6 | c.1999C>T (p.Pro667Ser) c.1975C>T (p.Pro659Ser) c.1972C>T (p.Pro658Ser) c.2110C>T (p.Pro704Ser) n.1708C>T c.2116C>T (p.Pro706Ser) c.2044C>T (p.Pro682Ser) n.2271C>T c.1810C>T (p.Pro604Ser) c.2047C>T (p.Pro683Ser) | dbSNP |
| 15 | g.74180085G>C | CA393128149 | STRA6 | c.1999C>G (p.Pro667Ala) c.1975C>G (p.Pro659Ala) c.1972C>G (p.Pro658Ala) c.2110C>G (p.Pro704Ala) n.1708C>G c.2116C>G (p.Pro706Ala) c.2044C>G (p.Pro682Ala) n.2271C>G c.1810C>G (p.Pro604Ala) c.2047C>G (p.Pro683Ala) | |
| 15 | g.74180085G= | CA2187549685 | STRA6 | c.1999C= (p.Pro667=) c.1975C= (p.Pro659=) c.1972C= (p.Pro658=) c.2110C= (p.Pro704=) n.1708C= c.2116C= (p.Pro706=) c.2044C= (p.Pro682=) n.2271C= c.1810C= (p.Pro604=) c.2047C= (p.Pro683=) | |
| 15 | g.74180085G>T | CA393128150 | STRA6 | c.1999C>A (p.Pro667Thr) c.1975C>A (p.Pro659Thr) c.1972C>A (p.Pro658Thr) c.2110C>A (p.Pro704Thr) n.1708C>A c.2116C>A (p.Pro706Thr) c.2044C>A (p.Pro682Thr) n.2271C>A c.1810C>A (p.Pro604Thr) c.2047C>A (p.Pro683Thr) | |
| 15 | g.74180086C>A | CA393128151 | STRA6 | c.1998G>T (p.Gln666His) c.1974G>T (p.Gln658His) c.1971G>T (p.Gln657His) c.2109G>T (p.Gln703His) n.1707G>T c.2115G>T (p.Gln705His) c.2043G>T (p.Gln681His) n.2270G>T c.1809G>T (p.Gln603His) c.2046G>T (p.Gln682His) | |
| 15 | g.74180086C>G | CA393128152 | STRA6 | c.1998G>C (p.Gln666His) c.1974G>C (p.Gln658His) c.1971G>C (p.Gln657His) c.2109G>C (p.Gln703His) n.1707G>C c.2115G>C (p.Gln705His) c.2043G>C (p.Gln681His) n.2270G>C c.1809G>C (p.Gln603His) c.2046G>C (p.Gln682His) | |
| 15 | g.74180086C>T | CA491170263 | STRA6 | c.1998G>A (p.Gln666=) c.1974G>A (p.Gln658=) c.1971G>A (p.Gln657=) c.2109G>A (p.Gln703=) n.1707G>A c.2115G>A (p.Gln705=) c.2043G>A (p.Gln681=) n.2270G>A c.1809G>A (p.Gln603=) c.2046G>A (p.Gln682=) | |
| 15 | g.74180087T>A | CA393128153 | STRA6 | c.1997A>T (p.Gln666Leu) c.1973A>T (p.Gln658Leu) c.1970A>T (p.Gln657Leu) c.2108A>T (p.Gln703Leu) n.1706A>T c.2114A>T (p.Gln705Leu) c.2042A>T (p.Gln681Leu) n.2269A>T c.1808A>T (p.Gln603Leu) c.2045A>T (p.Gln682Leu) | |
| 15 | g.74180087T>C | CA393128154 | STRA6 | c.1997A>G (p.Gln666Arg) c.1973A>G (p.Gln658Arg) c.1970A>G (p.Gln657Arg) c.2108A>G (p.Gln703Arg) n.1706A>G c.2114A>G (p.Gln705Arg) c.2042A>G (p.Gln681Arg) n.2269A>G c.1808A>G (p.Gln603Arg) c.2045A>G (p.Gln682Arg) | |
| 15 | g.74180087T>G | CA393128155 | STRA6 | c.1997A>C (p.Gln666Pro) c.1973A>C (p.Gln658Pro) c.1970A>C (p.Gln657Pro) c.2108A>C (p.Gln703Pro) n.1706A>C c.2114A>C (p.Gln705Pro) c.2042A>C (p.Gln681Pro) n.2269A>C c.1808A>C (p.Gln603Pro) c.2045A>C (p.Gln682Pro) | |
| 15 | g.74180088G>A | CA393128157 | STRA6 | c.1996C>T (p.Gln666Ter) c.1972C>T (p.Gln658Ter) c.1969C>T (p.Gln657Ter) c.2107C>T (p.Gln703Ter) n.1705C>T c.2113C>T (p.Gln705Ter) c.2041C>T (p.Gln681Ter) n.2268C>T c.1807C>T (p.Gln603Ter) c.2044C>T (p.Gln682Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74180088G>C | CA393128158 | STRA6 | c.1996C>G (p.Gln666Glu) c.1972C>G (p.Gln658Glu) c.1969C>G (p.Gln657Glu) c.2107C>G (p.Gln703Glu) n.1705C>G c.2113C>G (p.Gln705Glu) c.2041C>G (p.Gln681Glu) n.2268C>G c.1807C>G (p.Gln603Glu) c.2044C>G (p.Gln682Glu) | |
| 15 | g.74180088G= | CA2187549686 | STRA6 | c.1996C= (p.Gln666=) c.1972C= (p.Gln658=) c.1969C= (p.Gln657=) c.2107C= (p.Gln703=) n.1705C= c.2113C= (p.Gln705=) c.2041C= (p.Gln681=) n.2268C= c.1807C= (p.Gln603=) c.2044C= (p.Gln682=) | |
| 15 | g.74180088G>T | CA393128156 | STRA6 | c.1996C>A (p.Gln666Lys) c.1972C>A (p.Gln658Lys) c.1969C>A (p.Gln657Lys) c.2107C>A (p.Gln703Lys) n.1705C>A c.2113C>A (p.Gln705Lys) c.2041C>A (p.Gln681Lys) n.2268C>A c.1807C>A (p.Gln603Lys) c.2044C>A (p.Gln682Lys) | |
| 15 | g.74180089G>A | CA7654369 | STRA6 | c.1995C>T (p.Ala665=) c.1971C>T (p.Ala657=) c.1968C>T (p.Ala656=) c.2106C>T (p.Ala702=) n.1704C>T c.2112C>T (p.Ala704=) c.2040C>T (p.Ala680=) n.2267C>T c.1806C>T (p.Ala602=) c.2043C>T (p.Ala681=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180089G>C | CA491170266 | STRA6 | c.1995C>G (p.Ala665=) c.1971C>G (p.Ala657=) c.1968C>G (p.Ala656=) c.2106C>G (p.Ala702=) n.1704C>G c.2112C>G (p.Ala704=) c.2040C>G (p.Ala680=) n.2267C>G c.1806C>G (p.Ala602=) c.2043C>G (p.Ala681=) | |
| 15 | g.74180089G= | CA2187549687 | STRA6 | c.1995C= (p.Ala665=) c.1971C= (p.Ala657=) c.1968C= (p.Ala656=) c.2106C= (p.Ala702=) n.1704C= c.2112C= (p.Ala704=) c.2040C= (p.Ala680=) n.2267C= c.1806C= (p.Ala602=) c.2043C= (p.Ala681=) | |
| 15 | g.74180089G>T | CA491170267 | STRA6 | c.1995C>A (p.Ala665=) c.1971C>A (p.Ala657=) c.1968C>A (p.Ala656=) c.2106C>A (p.Ala702=) n.1704C>A c.2112C>A (p.Ala704=) c.2040C>A (p.Ala680=) n.2267C>A c.1806C>A (p.Ala602=) c.2043C>A (p.Ala681=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74180090G>A | CA7654370 | STRA6 | c.1994C>T (p.Ala665Val) c.1970C>T (p.Ala657Val) c.1967C>T (p.Ala656Val) c.2105C>T (p.Ala702Val) n.1703C>T c.2111C>T (p.Ala704Val) c.2039C>T (p.Ala680Val) n.2266C>T c.1805C>T (p.Ala602Val) c.2042C>T (p.Ala681Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180090G>C | CA393128159 | STRA6 | c.1994C>G (p.Ala665Gly) c.1970C>G (p.Ala657Gly) c.1967C>G (p.Ala656Gly) c.2105C>G (p.Ala702Gly) n.1703C>G c.2111C>G (p.Ala704Gly) c.2039C>G (p.Ala680Gly) n.2266C>G c.1805C>G (p.Ala602Gly) c.2042C>G (p.Ala681Gly) | |
| 15 | g.74180090G= | CA2187549688 | STRA6 | c.1994C= (p.Ala665=) c.1970C= (p.Ala657=) c.1967C= (p.Ala656=) c.2105C= (p.Ala702=) n.1703C= c.2111C= (p.Ala704=) c.2039C= (p.Ala680=) n.2266C= c.1805C= (p.Ala602=) c.2042C= (p.Ala681=) | |
| 15 | g.74180090G>T | CA7654371 | STRA6 | c.1994C>A (p.Ala665Asp) c.1970C>A (p.Ala657Asp) c.1967C>A (p.Ala656Asp) c.2105C>A (p.Ala702Asp) n.1703C>A c.2111C>A (p.Ala704Asp) c.2039C>A (p.Ala680Asp) n.2266C>A c.1805C>A (p.Ala602Asp) c.2042C>A (p.Ala681Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74180091C>A | CA393128160 | STRA6 | c.1993G>T (p.Ala665Ser) c.1969G>T (p.Ala657Ser) c.1966G>T (p.Ala656Ser) c.2104G>T (p.Ala702Ser) n.1702G>T c.2110G>T (p.Ala704Ser) c.2038G>T (p.Ala680Ser) n.2265G>T c.1804G>T (p.Ala602Ser) c.2041G>T (p.Ala681Ser) | |
| 15 | g.74180091C= | CA2187549689 | STRA6 | c.1993G= (p.Ala665=) c.1969G= (p.Ala657=) c.1966G= (p.Ala656=) c.2104G= (p.Ala702=) n.1702G= c.2110G= (p.Ala704=) c.2038G= (p.Ala680=) n.2265G= c.1804G= (p.Ala602=) c.2041G= (p.Ala681=) | |
| 15 | g.74180091C>G | CA393128161 | STRA6 | c.1993G>C (p.Ala665Pro) c.1969G>C (p.Ala657Pro) c.1966G>C (p.Ala656Pro) c.2104G>C (p.Ala702Pro) n.1702G>C c.2110G>C (p.Ala704Pro) c.2038G>C (p.Ala680Pro) n.2265G>C c.1804G>C (p.Ala602Pro) c.2041G>C (p.Ala681Pro) | |
| 15 | g.74180091C>T | CA393128162 | STRA6 | c.1993G>A (p.Ala665Thr) c.1969G>A (p.Ala657Thr) c.1966G>A (p.Ala656Thr) c.2104G>A (p.Ala702Thr) n.1702G>A c.2110G>A (p.Ala704Thr) c.2038G>A (p.Ala680Thr) n.2265G>A c.1804G>A (p.Ala602Thr) c.2041G>A (p.Ala681Thr) | dbSNP gnomAD v4 |
| 15 | g.74180092A= | CA2187549690 | STRA6 | c.1992T= (p.Gly664=) c.1968T= (p.Gly656=) c.1965T= (p.Gly655=) c.2103T= (p.Gly701=) n.1701T= c.2109T= (p.Gly703=) c.2037T= (p.Gly679=) n.2264T= c.1803T= (p.Gly601=) c.2040T= (p.Gly680=) | |
| 15 | g.74180092A>C | CA491170269 | STRA6 | c.1992T>G (p.Gly664=) c.1968T>G (p.Gly656=) c.1965T>G (p.Gly655=) c.2103T>G (p.Gly701=) n.1701T>G c.2109T>G (p.Gly703=) c.2037T>G (p.Gly679=) n.2264T>G c.1803T>G (p.Gly601=) c.2040T>G (p.Gly680=) | |
| 15 | g.74180092A>G | CA7654372 | STRA6 | c.1992T>C (p.Gly664=) c.1968T>C (p.Gly656=) c.1965T>C (p.Gly655=) c.2103T>C (p.Gly701=) n.1701T>C c.2109T>C (p.Gly703=) c.2037T>C (p.Gly679=) n.2264T>C c.1803T>C (p.Gly601=) c.2040T>C (p.Gly680=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180092A>T | CA491170270 | STRA6 | c.1992T>A (p.Gly664=) c.1968T>A (p.Gly656=) c.1965T>A (p.Gly655=) c.2103T>A (p.Gly701=) n.1701T>A c.2109T>A (p.Gly703=) c.2037T>A (p.Gly679=) n.2264T>A c.1803T>A (p.Gly601=) c.2040T>A (p.Gly680=) | |
| 15 | g.74180093C>A | CA393128163 | STRA6 | c.1991G>T (p.Gly664Val) c.1967G>T (p.Gly656Val) c.1964G>T (p.Gly655Val) c.2102G>T (p.Gly701Val) n.1700G>T c.2108G>T (p.Gly703Val) c.2036G>T (p.Gly679Val) n.2263G>T c.1802G>T (p.Gly601Val) c.2039G>T (p.Gly680Val) | |
| 15 | g.74180093C>G | CA393128164 | STRA6 | c.1991G>C (p.Gly664Ala) c.1967G>C (p.Gly656Ala) c.1964G>C (p.Gly655Ala) c.2102G>C (p.Gly701Ala) n.1700G>C c.2108G>C (p.Gly703Ala) c.2036G>C (p.Gly679Ala) n.2263G>C c.1802G>C (p.Gly601Ala) c.2039G>C (p.Gly680Ala) | |
| 15 | g.74180093C>T | CA393128165 | STRA6 | c.1991G>A (p.Gly664Asp) c.1967G>A (p.Gly656Asp) c.1964G>A (p.Gly655Asp) c.2102G>A (p.Gly701Asp) n.1700G>A c.2108G>A (p.Gly703Asp) c.2036G>A (p.Gly679Asp) n.2263G>A c.1802G>A (p.Gly601Asp) c.2039G>A (p.Gly680Asp) | |
| 15 | g.74180094C>A | CA7654373 | STRA6 | c.1990G>T (p.Gly664Cys) c.1966G>T (p.Gly656Cys) c.1963G>T (p.Gly655Cys) c.2101G>T (p.Gly701Cys) n.1699G>T c.2107G>T (p.Gly703Cys) c.2035G>T (p.Gly679Cys) n.2262G>T c.1801G>T (p.Gly601Cys) c.2038G>T (p.Gly680Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180094C= | CA2187549691 | STRA6 | c.1990G= (p.Gly664=) c.1966G= (p.Gly656=) c.1963G= (p.Gly655=) c.2101G= (p.Gly701=) n.1699G= c.2107G= (p.Gly703=) c.2035G= (p.Gly679=) n.2262G= c.1801G= (p.Gly601=) c.2038G= (p.Gly680=) | |
| 15 | g.74180094C>G | CA393128166 | STRA6 | c.1990G>C (p.Gly664Arg) c.1966G>C (p.Gly656Arg) c.1963G>C (p.Gly655Arg) c.2101G>C (p.Gly701Arg) n.1699G>C c.2107G>C (p.Gly703Arg) c.2035G>C (p.Gly679Arg) n.2262G>C c.1801G>C (p.Gly601Arg) c.2038G>C (p.Gly680Arg) | |
| 15 | g.74180094C>T | CA393128167 | STRA6 | c.1990G>A (p.Gly664Ser) c.1966G>A (p.Gly656Ser) c.1963G>A (p.Gly655Ser) c.2101G>A (p.Gly701Ser) n.1699G>A c.2107G>A (p.Gly703Ser) c.2035G>A (p.Gly679Ser) n.2262G>A c.1801G>A (p.Gly601Ser) c.2038G>A (p.Gly680Ser) | |
| 15 | g.74180095A>C | CA393128168 | STRA6 | c.1989T>G (p.Asn663Lys) c.1965T>G (p.Asn655Lys) c.1962T>G (p.Asn654Lys) c.2100T>G (p.Asn700Lys) n.1698T>G c.2106T>G (p.Asn702Lys) c.2034T>G (p.Asn678Lys) n.2261T>G c.1800T>G (p.Asn600Lys) c.2037T>G (p.Asn679Lys) | |
| 15 | g.74180095A>G | CA491170271 | STRA6 | c.1989T>C (p.Asn663=) c.1965T>C (p.Asn655=) c.1962T>C (p.Asn654=) c.2100T>C (p.Asn700=) n.1698T>C c.2106T>C (p.Asn702=) c.2034T>C (p.Asn678=) n.2261T>C c.1800T>C (p.Asn600=) c.2037T>C (p.Asn679=) | gnomAD v4 |
| 15 | g.74180095A>T | CA393128169 | STRA6 | c.1989T>A (p.Asn663Lys) c.1965T>A (p.Asn655Lys) c.1962T>A (p.Asn654Lys) c.2100T>A (p.Asn700Lys) n.1698T>A c.2106T>A (p.Asn702Lys) c.2034T>A (p.Asn678Lys) n.2261T>A c.1800T>A (p.Asn600Lys) c.2037T>A (p.Asn679Lys) | |
| 15 | g.74180096T>A | CA393128170 | STRA6 | c.1988A>T (p.Asn663Ile) c.1964A>T (p.Asn655Ile) c.1961A>T (p.Asn654Ile) c.2099A>T (p.Asn700Ile) n.1697A>T c.2105A>T (p.Asn702Ile) c.2033A>T (p.Asn678Ile) n.2260A>T c.1799A>T (p.Asn600Ile) c.2036A>T (p.Asn679Ile) | |
| 15 | g.74180096T>C | CA7654374 | STRA6 | c.1988A>G (p.Asn663Ser) c.1964A>G (p.Asn655Ser) c.1961A>G (p.Asn654Ser) c.2099A>G (p.Asn700Ser) n.1697A>G c.2105A>G (p.Asn702Ser) c.2033A>G (p.Asn678Ser) n.2260A>G c.1799A>G (p.Asn600Ser) c.2036A>G (p.Asn679Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180096T>G | CA393128171 | STRA6 | c.1988A>C (p.Asn663Thr) c.1964A>C (p.Asn655Thr) c.1961A>C (p.Asn654Thr) c.2099A>C (p.Asn700Thr) n.1697A>C c.2105A>C (p.Asn702Thr) c.2033A>C (p.Asn678Thr) n.2260A>C c.1799A>C (p.Asn600Thr) c.2036A>C (p.Asn679Thr) | |
| 15 | g.74180096T= | CA2187549692 | STRA6 | c.1988A= (p.Asn663=) c.1964A= (p.Asn655=) c.1961A= (p.Asn654=) c.2099A= (p.Asn700=) n.1697A= c.2105A= (p.Asn702=) c.2033A= (p.Asn678=) n.2260A= c.1799A= (p.Asn600=) c.2036A= (p.Asn679=) | |
| 15 | g.74180097T>A | CA393128172 | STRA6 | c.1987A>T (p.Asn663Tyr) c.1963A>T (p.Asn655Tyr) c.1960A>T (p.Asn654Tyr) c.2098A>T (p.Asn700Tyr) n.1696A>T c.2104A>T (p.Asn702Tyr) c.2032A>T (p.Asn678Tyr) n.2259A>T c.1798A>T (p.Asn600Tyr) c.2035A>T (p.Asn679Tyr) | |
| 15 | g.74180097T>C | CA393128173 | STRA6 | c.1987A>G (p.Asn663Asp) c.1963A>G (p.Asn655Asp) c.1960A>G (p.Asn654Asp) c.2098A>G (p.Asn700Asp) n.1696A>G c.2104A>G (p.Asn702Asp) c.2032A>G (p.Asn678Asp) n.2259A>G c.1798A>G (p.Asn600Asp) c.2035A>G (p.Asn679Asp) | |
| 15 | g.74180097T>G | CA393128174 | STRA6 | c.1987A>C (p.Asn663His) c.1963A>C (p.Asn655His) c.1960A>C (p.Asn654His) c.2098A>C (p.Asn700His) n.1696A>C c.2104A>C (p.Asn702His) c.2032A>C (p.Asn678His) n.2259A>C c.1798A>C (p.Asn600His) c.2035A>C (p.Asn679His) | |
| 15 | g.74180098G>A | CA491170272 | STRA6 | c.1986C>T (p.Ala662=) c.1962C>T (p.Ala654=) c.1959C>T (p.Ala653=) c.2097C>T (p.Ala699=) n.1695C>T c.2103C>T (p.Ala701=) c.2031C>T (p.Ala677=) n.2258C>T c.1797C>T (p.Ala599=) c.2034C>T (p.Ala678=) | |
| 15 | g.74180098G>C | CA491170273 | STRA6 | c.1986C>G (p.Ala662=) c.1962C>G (p.Ala654=) c.1959C>G (p.Ala653=) c.2097C>G (p.Ala699=) n.1695C>G c.2103C>G (p.Ala701=) c.2031C>G (p.Ala677=) n.2258C>G c.1797C>G (p.Ala599=) c.2034C>G (p.Ala678=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74180098G= | CA2187549693 | STRA6 | c.1986C= (p.Ala662=) c.1962C= (p.Ala654=) c.1959C= (p.Ala653=) c.2097C= (p.Ala699=) n.1695C= c.2103C= (p.Ala701=) c.2031C= (p.Ala677=) n.2258C= c.1797C= (p.Ala599=) c.2034C= (p.Ala678=) | |
| 15 | g.74180098G>T | CA491170274 | STRA6 | c.1986C>A (p.Ala662=) c.1962C>A (p.Ala654=) c.1959C>A (p.Ala653=) c.2097C>A (p.Ala699=) n.1695C>A c.2103C>A (p.Ala701=) c.2031C>A (p.Ala677=) n.2258C>A c.1797C>A (p.Ala599=) c.2034C>A (p.Ala678=) | |
| 15 | g.74180099del | CA2629451073 | STRA6 | c.1986del (p.Asn663MetfsTer?) c.1962del (p.Asn655MetfsTer?) c.1959del (p.Asn654MetfsTer?) c.2097del (p.Asn700MetfsTer?) n.1695del c.2103del (p.Asn702MetfsTer?) c.2031del (p.Asn678MetfsTer?) n.2258del c.1797del (p.Asn600MetfsTer?) c.2034del (p.Asn679MetfsTer?) | gnomAD v4 |
| 15 | g.74180099G>A | CA393128175 | STRA6 | c.1985C>T (p.Ala662Val) c.1961C>T (p.Ala654Val) c.1958C>T (p.Ala653Val) c.2096C>T (p.Ala699Val) n.1694C>T c.2102C>T (p.Ala701Val) c.2030C>T (p.Ala677Val) n.2257C>T c.1796C>T (p.Ala599Val) c.2033C>T (p.Ala678Val) | |
| 15 | g.74180099G>C | CA393128176 | STRA6 | c.1985C>G (p.Ala662Gly) c.1961C>G (p.Ala654Gly) c.1958C>G (p.Ala653Gly) c.2096C>G (p.Ala699Gly) n.1694C>G c.2102C>G (p.Ala701Gly) c.2030C>G (p.Ala677Gly) n.2257C>G c.1796C>G (p.Ala599Gly) c.2033C>G (p.Ala678Gly) | |
| 15 | g.74180099G= | CA2187549694 | STRA6 | c.1985C= (p.Ala662=) c.1961C= (p.Ala654=) c.1958C= (p.Ala653=) c.2096C= (p.Ala699=) n.1694C= c.2102C= (p.Ala701=) c.2030C= (p.Ala677=) n.2257C= c.1796C= (p.Ala599=) c.2033C= (p.Ala678=) | |
| 15 | g.74180099G>T | CA393128177 | STRA6 | c.1985C>A (p.Ala662Asp) c.1961C>A (p.Ala654Asp) c.1958C>A (p.Ala653Asp) c.2096C>A (p.Ala699Asp) n.1694C>A c.2102C>A (p.Ala701Asp) c.2030C>A (p.Ala677Asp) n.2257C>A c.1796C>A (p.Ala599Asp) c.2033C>A (p.Ala678Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74180100C>A | CA393128178 | STRA6 | c.1984G>T (p.Ala662Ser) c.1960G>T (p.Ala654Ser) c.1957G>T (p.Ala653Ser) c.2095G>T (p.Ala699Ser) n.1693G>T c.2101G>T (p.Ala701Ser) c.2029G>T (p.Ala677Ser) n.2256G>T c.1795G>T (p.Ala599Ser) c.2032G>T (p.Ala678Ser) | |
| 15 | g.74180100C>G | CA393128179 | STRA6 | c.1984G>C (p.Ala662Pro) c.1960G>C (p.Ala654Pro) c.1957G>C (p.Ala653Pro) c.2095G>C (p.Ala699Pro) n.1693G>C c.2101G>C (p.Ala701Pro) c.2029G>C (p.Ala677Pro) n.2256G>C c.1795G>C (p.Ala599Pro) c.2032G>C (p.Ala678Pro) | |
| 15 | g.74180100C>T | CA393128180 | STRA6 | c.1984G>A (p.Ala662Thr) c.1960G>A (p.Ala654Thr) c.1957G>A (p.Ala653Thr) c.2095G>A (p.Ala699Thr) n.1693G>A c.2101G>A (p.Ala701Thr) c.2029G>A (p.Ala677Thr) n.2256G>A c.1795G>A (p.Ala599Thr) c.2032G>A (p.Ala678Thr) | |
| 15 | g.74180101A= | CA2187549695 | STRA6 | c.1983T= (p.Gly661=) c.1959T= (p.Gly653=) c.1956T= (p.Gly652=) c.2094T= (p.Gly698=) n.1692T= c.2100T= (p.Gly700=) c.2028T= (p.Gly676=) n.2255T= c.1794T= (p.Gly598=) c.2031T= (p.Gly677=) | |
| 15 | g.74180101A>C | CA491170275 | STRA6 | c.1983T>G (p.Gly661=) c.1959T>G (p.Gly653=) c.1956T>G (p.Gly652=) c.2094T>G (p.Gly698=) n.1692T>G c.2100T>G (p.Gly700=) c.2028T>G (p.Gly676=) n.2255T>G c.1794T>G (p.Gly598=) c.2031T>G (p.Gly677=) | dbSNP |
| 15 | g.74180101A>G | CA491170276 | STRA6 | c.1983T>C (p.Gly661=) c.1959T>C (p.Gly653=) c.1956T>C (p.Gly652=) c.2094T>C (p.Gly698=) n.1692T>C c.2100T>C (p.Gly700=) c.2028T>C (p.Gly676=) n.2255T>C c.1794T>C (p.Gly598=) c.2031T>C (p.Gly677=) | |
| 15 | g.74180101A>T | CA491170277 | STRA6 | c.1983T>A (p.Gly661=) c.1959T>A (p.Gly653=) c.1956T>A (p.Gly652=) c.2094T>A (p.Gly698=) n.1692T>A c.2100T>A (p.Gly700=) c.2028T>A (p.Gly676=) n.2255T>A c.1794T>A (p.Gly598=) c.2031T>A (p.Gly677=) | |
| 15 | g.74180102C>A | CA393128181 | STRA6 | c.1982G>T (p.Gly661Val) c.1958G>T (p.Gly653Val) c.1955G>T (p.Gly652Val) c.2093G>T (p.Gly698Val) n.1691G>T c.2099G>T (p.Gly700Val) c.2027G>T (p.Gly676Val) n.2254G>T c.1793G>T (p.Gly598Val) c.2030G>T (p.Gly677Val) | dbSNP |
| 15 | g.74180102C= | CA2187549696 | STRA6 | c.1982G= (p.Gly661=) c.1958G= (p.Gly653=) c.1955G= (p.Gly652=) c.2093G= (p.Gly698=) n.1691G= c.2099G= (p.Gly700=) c.2027G= (p.Gly676=) n.2254G= c.1793G= (p.Gly598=) c.2030G= (p.Gly677=) | |
| 15 | g.74180102C>G | CA393128182 | STRA6 | c.1982G>C (p.Gly661Ala) c.1958G>C (p.Gly653Ala) c.1955G>C (p.Gly652Ala) c.2093G>C (p.Gly698Ala) n.1691G>C c.2099G>C (p.Gly700Ala) c.2027G>C (p.Gly676Ala) n.2254G>C c.1793G>C (p.Gly598Ala) c.2030G>C (p.Gly677Ala) | |
| 15 | g.74180102C>T | CA7654375 | STRA6 | c.1982G>A (p.Gly661Asp) c.1958G>A (p.Gly653Asp) c.1955G>A (p.Gly652Asp) c.2093G>A (p.Gly698Asp) n.1691G>A c.2099G>A (p.Gly700Asp) c.2027G>A (p.Gly676Asp) n.2254G>A c.1793G>A (p.Gly598Asp) c.2030G>A (p.Gly677Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74180103C>A | CA393128183 | STRA6 | c.1981G>T (p.Gly661Cys) c.1957G>T (p.Gly653Cys) c.1954G>T (p.Gly652Cys) c.2092G>T (p.Gly698Cys) n.1690G>T c.2098G>T (p.Gly700Cys) c.2026G>T (p.Gly676Cys) n.2253G>T c.1792G>T (p.Gly598Cys) c.2029G>T (p.Gly677Cys) | |
| 15 | g.74180103C>G | CA393128184 | STRA6 | c.1981G>C (p.Gly661Arg) c.1957G>C (p.Gly653Arg) c.1954G>C (p.Gly652Arg) c.2092G>C (p.Gly698Arg) n.1690G>C c.2098G>C (p.Gly700Arg) c.2026G>C (p.Gly676Arg) n.2253G>C c.1792G>C (p.Gly598Arg) c.2029G>C (p.Gly677Arg) | |
| 15 | g.74180103C>T | CA393128185 | STRA6 | c.1981G>A (p.Gly661Ser) c.1957G>A (p.Gly653Ser) c.1954G>A (p.Gly652Ser) c.2092G>A (p.Gly698Ser) n.1690G>A c.2098G>A (p.Gly700Ser) c.2026G>A (p.Gly676Ser) n.2253G>A c.1792G>A (p.Gly598Ser) c.2029G>A (p.Gly677Ser) | |
| 15 | g.74180104C>A | CA393128186 | STRA6 | c.1980G>T (p.Leu660Phe) c.1956G>T (p.Leu652Phe) c.1953G>T (p.Leu651Phe) c.2091G>T (p.Leu697Phe) n.1689G>T c.2097G>T (p.Leu699Phe) c.2025G>T (p.Leu675Phe) n.2252G>T c.1791G>T (p.Leu597Phe) c.2028G>T (p.Leu676Phe) | COSMIC |
| 15 | g.74180104C>G | CA393128187 | STRA6 | c.1980G>C (p.Leu660Phe) c.1956G>C (p.Leu652Phe) c.1953G>C (p.Leu651Phe) c.2091G>C (p.Leu697Phe) n.1689G>C c.2097G>C (p.Leu699Phe) c.2025G>C (p.Leu675Phe) n.2252G>C c.1791G>C (p.Leu597Phe) c.2028G>C (p.Leu676Phe) | gnomAD v4 |
| 15 | g.74180104C>T | CA491170278 | STRA6 | c.1980G>A (p.Leu660=) c.1956G>A (p.Leu652=) c.1953G>A (p.Leu651=) c.2091G>A (p.Leu697=) n.1689G>A c.2097G>A (p.Leu699=) c.2025G>A (p.Leu675=) n.2252G>A c.1791G>A (p.Leu597=) c.2028G>A (p.Leu676=) | |
| 15 | g.74180105A>C | CA393128188 | STRA6 | c.1979T>G (p.Leu660Trp) c.1955T>G (p.Leu652Trp) c.1952T>G (p.Leu651Trp) c.2090T>G (p.Leu697Trp) n.1688T>G c.2096T>G (p.Leu699Trp) c.2024T>G (p.Leu675Trp) n.2251T>G c.1790T>G (p.Leu597Trp) c.2027T>G (p.Leu676Trp) | |
| 15 | g.74180105A>G | CA393128189 | STRA6 | c.1979T>C (p.Leu660Ser) c.1955T>C (p.Leu652Ser) c.1952T>C (p.Leu651Ser) c.2090T>C (p.Leu697Ser) n.1688T>C c.2096T>C (p.Leu699Ser) c.2024T>C (p.Leu675Ser) n.2251T>C c.1790T>C (p.Leu597Ser) c.2027T>C (p.Leu676Ser) | |
| 15 | g.74180105A>T | CA393128190 | STRA6 | c.1979T>A (p.Leu660Ter) c.1955T>A (p.Leu652Ter) c.1952T>A (p.Leu651Ter) c.2090T>A (p.Leu697Ter) n.1688T>A c.2096T>A (p.Leu699Ter) c.2024T>A (p.Leu675Ter) n.2251T>A c.1790T>A (p.Leu597Ter) c.2027T>A (p.Leu676Ter) | |
| 15 | g.74180106A= | CA2187549697 | STRA6 | c.1978T= (p.Leu660=) c.1954T= (p.Leu652=) c.1951T= (p.Leu651=) c.2089T= (p.Leu697=) n.1687T= c.2095T= (p.Leu699=) c.2023T= (p.Leu675=) n.2250T= c.1789T= (p.Leu597=) c.2026T= (p.Leu676=) | |
| 15 | g.74180106A>C | CA393128191 | STRA6 | c.1978T>G (p.Leu660Val) c.1954T>G (p.Leu652Val) c.1951T>G (p.Leu651Val) c.2089T>G (p.Leu697Val) n.1687T>G c.2095T>G (p.Leu699Val) c.2023T>G (p.Leu675Val) n.2250T>G c.1789T>G (p.Leu597Val) c.2026T>G (p.Leu676Val) | |
| 15 | g.74180106A>G | CA272746102 | STRA6 | c.1978T>C (p.Leu660=) c.1954T>C (p.Leu652=) c.1951T>C (p.Leu651=) c.2089T>C (p.Leu697=) n.1687T>C c.2095T>C (p.Leu699=) c.2023T>C (p.Leu675=) n.2250T>C c.1789T>C (p.Leu597=) c.2026T>C (p.Leu676=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74180106A>T | CA393128192 | STRA6 | c.1978T>A (p.Leu660Met) c.1954T>A (p.Leu652Met) c.1951T>A (p.Leu651Met) c.2089T>A (p.Leu697Met) n.1687T>A c.2095T>A (p.Leu699Met) c.2023T>A (p.Leu675Met) n.2250T>A c.1789T>A (p.Leu597Met) c.2026T>A (p.Leu676Met) | |
| 15 | g.74180107C>A | CA491170281 | STRA6 | c.1977G>T (p.Leu659=) c.1953G>T (p.Leu651=) c.1950G>T (p.Leu650=) c.2088G>T (p.Leu696=) n.1686G>T c.2094G>T (p.Leu698=) c.2022G>T (p.Leu674=) n.2249G>T c.1788G>T (p.Leu596=) c.2025G>T (p.Leu675=) | |
| 15 | g.74180107C>G | CA491170280 | STRA6 | c.1977G>C (p.Leu659=) c.1953G>C (p.Leu651=) c.1950G>C (p.Leu650=) c.2088G>C (p.Leu696=) n.1686G>C c.2094G>C (p.Leu698=) c.2022G>C (p.Leu674=) n.2249G>C c.1788G>C (p.Leu596=) c.2025G>C (p.Leu675=) | |
| 15 | g.74180107C>T | CA491170279 | STRA6 | c.1977G>A (p.Leu659=) c.1953G>A (p.Leu651=) c.1950G>A (p.Leu650=) c.2088G>A (p.Leu696=) n.1686G>A c.2094G>A (p.Leu698=) c.2022G>A (p.Leu674=) n.2249G>A c.1788G>A (p.Leu596=) c.2025G>A (p.Leu675=) | gnomAD v4 |
| 15 | g.74180108A>C | CA393128193 | STRA6 | c.1976T>G (p.Leu659Arg) c.1952T>G (p.Leu651Arg) c.1949T>G (p.Leu650Arg) c.2087T>G (p.Leu696Arg) n.1685T>G c.2093T>G (p.Leu698Arg) c.2021T>G (p.Leu674Arg) n.2248T>G c.1787T>G (p.Leu596Arg) c.2024T>G (p.Leu675Arg) | gnomAD v4 |
| 15 | g.74180108A>G | CA393128194 | STRA6 | c.1976T>C (p.Leu659Pro) c.1952T>C (p.Leu651Pro) c.1949T>C (p.Leu650Pro) c.2087T>C (p.Leu696Pro) n.1685T>C c.2093T>C (p.Leu698Pro) c.2021T>C (p.Leu674Pro) n.2248T>C c.1787T>C (p.Leu596Pro) c.2024T>C (p.Leu675Pro) | |
| 15 | g.74180108A>T | CA393128195 | STRA6 | c.1976T>A (p.Leu659Gln) c.1952T>A (p.Leu651Gln) c.1949T>A (p.Leu650Gln) c.2087T>A (p.Leu696Gln) n.1685T>A c.2093T>A (p.Leu698Gln) c.2021T>A (p.Leu674Gln) n.2248T>A c.1787T>A (p.Leu596Gln) c.2024T>A (p.Leu675Gln) | |
| 15 | g.74180109G>A | CA7654376 | STRA6 | c.1975C>T (p.Leu659=) c.1951C>T (p.Leu651=) c.1948C>T (p.Leu650=) c.2086C>T (p.Leu696=) n.1684C>T c.2092C>T (p.Leu698=) c.2020C>T (p.Leu674=) n.2247C>T c.1786C>T (p.Leu596=) c.2023C>T (p.Leu675=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74180109G>C | CA393128197 | STRA6 | c.1975C>G (p.Leu659Val) c.1951C>G (p.Leu651Val) c.1948C>G (p.Leu650Val) c.2086C>G (p.Leu696Val) n.1684C>G c.2092C>G (p.Leu698Val) c.2020C>G (p.Leu674Val) n.2247C>G c.1786C>G (p.Leu596Val) c.2023C>G (p.Leu675Val) | |
| 15 | g.74180109G= | CA2187549698 | STRA6 | c.1975C= (p.Leu659=) c.1951C= (p.Leu651=) c.1948C= (p.Leu650=) c.2086C= (p.Leu696=) n.1684C= c.2092C= (p.Leu698=) c.2020C= (p.Leu674=) n.2247C= c.1786C= (p.Leu596=) c.2023C= (p.Leu675=) | |
| 15 | g.74180109G>T | CA393128196 | STRA6 | c.1975C>A (p.Leu659Met) c.1951C>A (p.Leu651Met) c.1948C>A (p.Leu650Met) c.2086C>A (p.Leu696Met) n.1684C>A c.2092C>A (p.Leu698Met) c.2020C>A (p.Leu674Met) n.2247C>A c.1786C>A (p.Leu596Met) c.2023C>A (p.Leu675Met) | |
| 15 | g.74180110G>A | CA491170282 | STRA6 | c.1974C>T (p.Ala658=) c.1950C>T (p.Ala650=) c.1947C>T (p.Ala649=) c.2085C>T (p.Ala695=) n.1683C>T c.2091C>T (p.Ala697=) c.2019C>T (p.Ala673=) n.2246C>T c.1785C>T (p.Ala595=) c.2022C>T (p.Ala674=) | dbSNP gnomAD v2 |
| 15 | g.74180110G>C | CA491170284 | STRA6 | c.1974C>G (p.Ala658=) c.1950C>G (p.Ala650=) c.1947C>G (p.Ala649=) c.2085C>G (p.Ala695=) n.1683C>G c.2091C>G (p.Ala697=) c.2019C>G (p.Ala673=) n.2246C>G c.1785C>G (p.Ala595=) c.2022C>G (p.Ala674=) | |
| 15 | g.74180110G= | CA2187549699 | STRA6 | c.1974C= (p.Ala658=) c.1950C= (p.Ala650=) c.1947C= (p.Ala649=) c.2085C= (p.Ala695=) n.1683C= c.2091C= (p.Ala697=) c.2019C= (p.Ala673=) n.2246C= c.1785C= (p.Ala595=) c.2022C= (p.Ala674=) | |
| 15 | g.74180110G>T | CA491170283 | STRA6 | c.1974C>A (p.Ala658=) c.1950C>A (p.Ala650=) c.1947C>A (p.Ala649=) c.2085C>A (p.Ala695=) n.1683C>A c.2091C>A (p.Ala697=) c.2019C>A (p.Ala673=) n.2246C>A c.1785C>A (p.Ala595=) c.2022C>A (p.Ala674=) | |
| 15 | g.74180111G>A | CA393128198 | STRA6 | c.1973C>T (p.Ala658Val) c.1949C>T (p.Ala650Val) c.1946C>T (p.Ala649Val) c.2084C>T (p.Ala695Val) n.1682C>T c.2090C>T (p.Ala697Val) c.2018C>T (p.Ala673Val) n.2245C>T c.1784C>T (p.Ala595Val) c.2021C>T (p.Ala674Val) | gnomAD v4 |
| 15 | g.74180111G>C | CA393128199 | STRA6 | c.1973C>G (p.Ala658Gly) c.1949C>G (p.Ala650Gly) c.1946C>G (p.Ala649Gly) c.2084C>G (p.Ala695Gly) n.1682C>G c.2090C>G (p.Ala697Gly) c.2018C>G (p.Ala673Gly) n.2245C>G c.1784C>G (p.Ala595Gly) c.2021C>G (p.Ala674Gly) | |
| 15 | g.74180111G>T | CA393128200 | STRA6 | c.1973C>A (p.Ala658Asp) c.1949C>A (p.Ala650Asp) c.1946C>A (p.Ala649Asp) c.2084C>A (p.Ala695Asp) n.1682C>A c.2090C>A (p.Ala697Asp) c.2018C>A (p.Ala673Asp) n.2245C>A c.1784C>A (p.Ala595Asp) c.2021C>A (p.Ala674Asp) | |
| 15 | g.74180112C>A | CA393128201 | STRA6 | c.1972G>T (p.Ala658Ser) c.1948G>T (p.Ala650Ser) c.1945G>T (p.Ala649Ser) c.2083G>T (p.Ala695Ser) n.1681G>T c.2089G>T (p.Ala697Ser) c.2017G>T (p.Ala673Ser) n.2244G>T c.1783G>T (p.Ala595Ser) c.2020G>T (p.Ala674Ser) | dbSNP gnomAD v2 |
| 15 | g.74180112C= | CA2187549700 | STRA6 | c.1972G= (p.Ala658=) c.1948G= (p.Ala650=) c.1945G= (p.Ala649=) c.2083G= (p.Ala695=) n.1681G= c.2089G= (p.Ala697=) c.2017G= (p.Ala673=) n.2244G= c.1783G= (p.Ala595=) c.2020G= (p.Ala674=) | |
| 15 | g.74180112C>G | CA393128202 | STRA6 | c.1972G>C (p.Ala658Pro) c.1948G>C (p.Ala650Pro) c.1945G>C (p.Ala649Pro) c.2083G>C (p.Ala695Pro) n.1681G>C c.2089G>C (p.Ala697Pro) c.2017G>C (p.Ala673Pro) n.2244G>C c.1783G>C (p.Ala595Pro) c.2020G>C (p.Ala674Pro) | |
| 15 | g.74180112C>T | CA7654377 | STRA6 | c.1972G>A (p.Ala658Thr) c.1948G>A (p.Ala650Thr) c.1945G>A (p.Ala649Thr) c.2083G>A (p.Ala695Thr) n.1681G>A c.2089G>A (p.Ala697Thr) c.2017G>A (p.Ala673Thr) n.2244G>A c.1783G>A (p.Ala595Thr) c.2020G>A (p.Ala674Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74180113C>A | CA491170285 | STRA6 | c.1971G>T (p.Thr657=) c.1947G>T (p.Thr649=) c.1944G>T (p.Thr648=) c.2082G>T (p.Thr694=) n.1680G>T c.2088G>T (p.Thr696=) c.2016G>T (p.Thr672=) n.2243G>T c.1782G>T (p.Thr594=) c.2019G>T (p.Thr673=) | |
| 15 | g.74180113C= | CA2187549701 | STRA6 | c.1971G= (p.Thr657=) c.1947G= (p.Thr649=) c.1944G= (p.Thr648=) c.2082G= (p.Thr694=) n.1680G= c.2088G= (p.Thr696=) c.2016G= (p.Thr672=) n.2243G= c.1782G= (p.Thr594=) c.2019G= (p.Thr673=) | |
| 15 | g.74180113C>G | CA491170286 | STRA6 | c.1971G>C (p.Thr657=) c.1947G>C (p.Thr649=) c.1944G>C (p.Thr648=) c.2082G>C (p.Thr694=) n.1680G>C c.2088G>C (p.Thr696=) c.2016G>C (p.Thr672=) n.2243G>C c.1782G>C (p.Thr594=) c.2019G>C (p.Thr673=) | |
| 15 | g.74180113C>T | CA7654378 | STRA6 | c.1971G>A (p.Thr657=) c.1947G>A (p.Thr649=) c.1944G>A (p.Thr648=) c.2082G>A (p.Thr694=) n.1680G>A c.2088G>A (p.Thr696=) c.2016G>A (p.Thr672=) n.2243G>A c.1782G>A (p.Thr594=) c.2019G>A (p.Thr673=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180113_74180114insACTCCCTTTCA | CA2629451074 | STRA6 | c.1970_1971insTGAAAGGGAGT (p.Ala658GlufsTer?) c.1946_1947insTGAAAGGGAGT (p.Ala650GlufsTer?) c.1943_1944insTGAAAGGGAGT (p.Ala649GlufsTer?) c.2081_2082insTGAAAGGGAGT (p.Ala695GlufsTer?) n.1679_1680insTGAAAGGGAGT c.2087_2088insTGAAAGGGAGT (p.Ala697GlufsTer?) c.2015_2016insTGAAAGGGAGT (p.Ala673GlufsTer?) n.2242_2243insTGAAAGGGAGT c.1781_1782insTGAAAGGGAGT (p.Ala595GlufsTer?) c.2018_2019insTGAAAGGGAGT (p.Ala674GlufsTer?) | gnomAD v4 |
| 15 | g.74180114G>A | CA7654379 | STRA6 | c.1970C>T (p.Thr657Met) c.1946C>T (p.Thr649Met) c.1943C>T (p.Thr648Met) c.2081C>T (p.Thr694Met) n.1679C>T c.2087C>T (p.Thr696Met) c.2015C>T (p.Thr672Met) n.2242C>T c.1781C>T (p.Thr594Met) c.2018C>T (p.Thr673Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180114G>C | CA393128204 | STRA6 | c.1970C>G (p.Thr657Arg) c.1946C>G (p.Thr649Arg) c.1943C>G (p.Thr648Arg) c.2081C>G (p.Thr694Arg) n.1679C>G c.2087C>G (p.Thr696Arg) c.2015C>G (p.Thr672Arg) n.2242C>G c.1781C>G (p.Thr594Arg) c.2018C>G (p.Thr673Arg) | |
| 15 | g.74180114G= | CA2187549702 | STRA6 | c.1970C= (p.Thr657=) c.1946C= (p.Thr649=) c.1943C= (p.Thr648=) c.2081C= (p.Thr694=) n.1679C= c.2087C= (p.Thr696=) c.2015C= (p.Thr672=) n.2242C= c.1781C= (p.Thr594=) c.2018C= (p.Thr673=) | |
| 15 | g.74180114G>T | CA393128203 | STRA6 | c.1970C>A (p.Thr657Lys) c.1946C>A (p.Thr649Lys) c.1943C>A (p.Thr648Lys) c.2081C>A (p.Thr694Lys) n.1679C>A c.2087C>A (p.Thr696Lys) c.2015C>A (p.Thr672Lys) n.2242C>A c.1781C>A (p.Thr594Lys) c.2018C>A (p.Thr673Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74180114_74180115insCTTCACCATGGCCTCCT | CA2629451076 | STRA6 | c.1969_1970insAGGAGGCCATGGTGAAG (p.Thr657LysfsTer?) c.1945_1946insAGGAGGCCATGGTGAAG (p.Thr649LysfsTer?) c.1942_1943insAGGAGGCCATGGTGAAG (p.Thr648LysfsTer?) c.2080_2081insAGGAGGCCATGGTGAAG (p.Thr694LysfsTer?) n.1678_1679insAGGAGGCCATGGTGAAG c.2086_2087insAGGAGGCCATGGTGAAG (p.Thr696LysfsTer?) c.2014_2015insAGGAGGCCATGGTGAAG (p.Thr672LysfsTer?) n.2241_2242insAGGAGGCCATGGTGAAG c.1780_1781insAGGAGGCCATGGTGAAG (p.Thr594LysfsTer?) c.2017_2018insAGGAGGCCATGGTGAAG (p.Thr673LysfsTer?) | gnomAD v4 |
| 15 | g.74180115T>A | CA393128205 | STRA6 | c.1969A>T (p.Thr657Ser) c.1945A>T (p.Thr649Ser) c.1942A>T (p.Thr648Ser) c.2080A>T (p.Thr694Ser) n.1678A>T c.2086A>T (p.Thr696Ser) c.2014A>T (p.Thr672Ser) n.2241A>T c.1780A>T (p.Thr594Ser) c.2017A>T (p.Thr673Ser) | |
| 15 | g.74180115T>C | CA393128206 | STRA6 | c.1969A>G (p.Thr657Ala) c.1945A>G (p.Thr649Ala) c.1942A>G (p.Thr648Ala) c.2080A>G (p.Thr694Ala) n.1678A>G c.2086A>G (p.Thr696Ala) c.2014A>G (p.Thr672Ala) n.2241A>G c.1780A>G (p.Thr594Ala) c.2017A>G (p.Thr673Ala) | |
| 15 | g.74180115T>G | CA393128207 | STRA6 | c.1969A>C (p.Thr657Pro) c.1945A>C (p.Thr649Pro) c.1942A>C (p.Thr648Pro) c.2080A>C (p.Thr694Pro) n.1678A>C c.2086A>C (p.Thr696Pro) c.2014A>C (p.Thr672Pro) n.2241A>C c.1780A>C (p.Thr594Pro) c.2017A>C (p.Thr673Pro) | |
| 15 | g.74180116C>A | CA393128208 | STRA6 | c.1968G>T (p.Lys656Asn) c.1944G>T (p.Lys648Asn) c.1941G>T (p.Lys647Asn) c.2079G>T (p.Lys693Asn) n.1677G>T c.2085G>T (p.Lys695Asn) c.2013G>T (p.Lys671Asn) n.2240G>T c.1779G>T (p.Lys593Asn) c.2016G>T (p.Lys672Asn) | |
| 15 | g.74180116C>G | CA393128209 | STRA6 | c.1968G>C (p.Lys656Asn) c.1944G>C (p.Lys648Asn) c.1941G>C (p.Lys647Asn) c.2079G>C (p.Lys693Asn) n.1677G>C c.2085G>C (p.Lys695Asn) c.2013G>C (p.Lys671Asn) n.2240G>C c.1779G>C (p.Lys593Asn) c.2016G>C (p.Lys672Asn) | |
| 15 | g.74180116C>T | CA491170288 | STRA6 | c.1968G>A (p.Lys656=) c.1944G>A (p.Lys648=) c.1941G>A (p.Lys647=) c.2079G>A (p.Lys693=) n.1677G>A c.2085G>A (p.Lys695=) c.2013G>A (p.Lys671=) n.2240G>A c.1779G>A (p.Lys593=) c.2016G>A (p.Lys672=) | |
| 15 | g.74180117T>A | CA393128211 | STRA6 | c.1967A>T (p.Lys656Met) c.1943A>T (p.Lys648Met) c.1940A>T (p.Lys647Met) c.2078A>T (p.Lys693Met) n.1676A>T c.2084A>T (p.Lys695Met) c.2012A>T (p.Lys671Met) n.2239A>T c.1778A>T (p.Lys593Met) c.2015A>T (p.Lys672Met) | |
| 15 | g.74180117T>C | CA393128212 | STRA6 | c.1967A>G (p.Lys656Arg) c.1943A>G (p.Lys648Arg) c.1940A>G (p.Lys647Arg) c.2078A>G (p.Lys693Arg) n.1676A>G c.2084A>G (p.Lys695Arg) c.2012A>G (p.Lys671Arg) n.2239A>G c.1778A>G (p.Lys593Arg) c.2015A>G (p.Lys672Arg) | |
| 15 | g.74180117T>G | CA393128210 | STRA6 | c.1967A>C (p.Lys656Thr) c.1943A>C (p.Lys648Thr) c.1940A>C (p.Lys647Thr) c.2078A>C (p.Lys693Thr) n.1676A>C c.2084A>C (p.Lys695Thr) c.2012A>C (p.Lys671Thr) n.2239A>C c.1778A>C (p.Lys593Thr) c.2015A>C (p.Lys672Thr) | |
| 15 | g.74180118T>A | CA393128213 | STRA6 | c.1966A>T (p.Lys656Ter) c.1942A>T (p.Lys648Ter) c.1939A>T (p.Lys647Ter) c.2077A>T (p.Lys693Ter) n.1675A>T c.2083A>T (p.Lys695Ter) c.2011A>T (p.Lys671Ter) n.2238A>T c.1777A>T (p.Lys593Ter) c.2014A>T (p.Lys672Ter) | |
| 15 | g.74180118T>C | CA393128215 | STRA6 | c.1966A>G (p.Lys656Glu) c.1942A>G (p.Lys648Glu) c.1939A>G (p.Lys647Glu) c.2077A>G (p.Lys693Glu) n.1675A>G c.2083A>G (p.Lys695Glu) c.2011A>G (p.Lys671Glu) n.2238A>G c.1777A>G (p.Lys593Glu) c.2014A>G (p.Lys672Glu) | |
| 15 | g.74180118T>G | CA393128214 | STRA6 | c.1966A>C (p.Lys656Gln) c.1942A>C (p.Lys648Gln) c.1939A>C (p.Lys647Gln) c.2077A>C (p.Lys693Gln) n.1675A>C c.2083A>C (p.Lys695Gln) c.2011A>C (p.Lys671Gln) n.2238A>C c.1777A>C (p.Lys593Gln) c.2014A>C (p.Lys672Gln) | gnomAD v4 |
| 15 | g.74180119G>A | CA491170289 | STRA6 | c.1965C>T (p.Arg655=) c.1941C>T (p.Arg647=) c.1938C>T (p.Arg646=) c.2076C>T (p.Arg692=) n.1674C>T c.2082C>T (p.Arg694=) c.2010C>T (p.Arg670=) n.2237C>T c.1776C>T (p.Arg592=) c.2013C>T (p.Arg671=) | dbSNP gnomAD v4 |
| 15 | g.74180119G>C | CA491170290 | STRA6 | c.1965C>G (p.Arg655=) c.1941C>G (p.Arg647=) c.1938C>G (p.Arg646=) c.2076C>G (p.Arg692=) n.1674C>G c.2082C>G (p.Arg694=) c.2010C>G (p.Arg670=) n.2237C>G c.1776C>G (p.Arg592=) c.2013C>G (p.Arg671=) | |
| 15 | g.74180119G= | CA2187549703 | STRA6 | c.1965C= (p.Arg655=) c.1941C= (p.Arg647=) c.1938C= (p.Arg646=) c.2076C= (p.Arg692=) n.1674C= c.2082C= (p.Arg694=) c.2010C= (p.Arg670=) n.2237C= c.1776C= (p.Arg592=) c.2013C= (p.Arg671=) | |
| 15 | g.74180119G>T | CA491170291 | STRA6 | c.1965C>A (p.Arg655=) c.1941C>A (p.Arg647=) c.1938C>A (p.Arg646=) c.2076C>A (p.Arg692=) n.1674C>A c.2082C>A (p.Arg694=) c.2010C>A (p.Arg670=) n.2237C>A c.1776C>A (p.Arg592=) c.2013C>A (p.Arg671=) | |
| 15 | g.74180120C>A | CA272746106 | STRA6 | c.1964G>T (p.Arg655Leu) c.1940G>T (p.Arg647Leu) c.1937G>T (p.Arg646Leu) c.2075G>T (p.Arg692Leu) n.1673G>T c.2081G>T (p.Arg694Leu) c.2009G>T (p.Arg670Leu) n.2236G>T c.1775G>T (p.Arg592Leu) c.2012G>T (p.Arg671Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74180120C= | CA2187549704 | STRA6 | c.1964G= (p.Arg655=) c.1940G= (p.Arg647=) c.1937G= (p.Arg646=) c.2075G= (p.Arg692=) n.1673G= c.2081G= (p.Arg694=) c.2009G= (p.Arg670=) n.2236G= c.1775G= (p.Arg592=) c.2012G= (p.Arg671=) | |
| 15 | g.74180120C>G | CA393128216 | STRA6 | c.1964G>C (p.Arg655Pro) c.1940G>C (p.Arg647Pro) c.1937G>C (p.Arg646Pro) c.2075G>C (p.Arg692Pro) n.1673G>C c.2081G>C (p.Arg694Pro) c.2009G>C (p.Arg670Pro) n.2236G>C c.1775G>C (p.Arg592Pro) c.2012G>C (p.Arg671Pro) | |
| 15 | g.74180120C>T | CA130738 | STRA6 | c.1964G>A (p.Arg655His) c.1940G>A (p.Arg647His) c.1937G>A (p.Arg646His) c.2075G>A (p.Arg692His) n.1673G>A c.2081G>A (p.Arg694His) c.2009G>A (p.Arg670His) n.2236G>A c.1775G>A (p.Arg592His) c.2012G>A (p.Arg671His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.74180120_74180121delinsCG | CA2187549705 | STRA6 | c.1963_1964delinsCG (p.Arg655=) c.1939_1940delinsCG (p.Arg647=) c.1936_1937delinsCG (p.Arg646=) c.2074_2075delinsCG (p.Arg692=) n.1672_1673delinsCG c.2080_2081delinsCG (p.Arg694=) c.2008_2009delinsCG (p.Arg670=) n.2235_2236delinsCG c.1774_1775delinsCG (p.Arg592=) c.2011_2012delinsCG (p.Arg671=) | |
| 15 | g.74180121G>A | CA114787 | STRA6 | c.1963C>T (p.Arg655Cys) c.1939C>T (p.Arg647Cys) c.1936C>T (p.Arg646Cys) c.2074C>T (p.Arg692Cys) n.1672C>T c.2080C>T (p.Arg694Cys) c.2008C>T (p.Arg670Cys) n.2235C>T c.1774C>T (p.Arg592Cys) c.2011C>T (p.Arg671Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74180121G>C | CA393128217 | STRA6 | c.1963C>G (p.Arg655Gly) c.1939C>G (p.Arg647Gly) c.1936C>G (p.Arg646Gly) c.2074C>G (p.Arg692Gly) n.1672C>G c.2080C>G (p.Arg694Gly) c.2008C>G (p.Arg670Gly) n.2235C>G c.1774C>G (p.Arg592Gly) c.2011C>G (p.Arg671Gly) | |
| 15 | g.74180121G= | CA2187549707 | STRA6 | c.1963C= (p.Arg655=) c.1939C= (p.Arg647=) c.1936C= (p.Arg646=) c.2074C= (p.Arg692=) n.1672C= c.2080C= (p.Arg694=) c.2008C= (p.Arg670=) n.2235C= c.1774C= (p.Arg592=) c.2011C= (p.Arg671=) | |
| 15 | g.74180121G>T | CA393128218 | STRA6 | c.1963C>A (p.Arg655Ser) c.1939C>A (p.Arg647Ser) c.1936C>A (p.Arg646Ser) c.2074C>A (p.Arg692Ser) n.1672C>A c.2080C>A (p.Arg694Ser) c.2008C>A (p.Arg670Ser) n.2235C>A c.1774C>A (p.Arg592Ser) c.2011C>A (p.Arg671Ser) | COSMIC COSMIC |
| 15 | g.74180122del | CA2187549706 | STRA6 | c.1963del (p.Arg655AlafsTer?) c.1939del (p.Arg647AlafsTer?) c.1936del (p.Arg646AlafsTer?) c.2074del (p.Arg692AlafsTer?) n.1672del c.2080del (p.Arg694AlafsTer?) c.2008del (p.Arg670AlafsTer?) n.2235del c.1774del (p.Arg592AlafsTer?) c.2011del (p.Arg671AlafsTer?) | dbSNP gnomAD v4 |
| 15 | g.74180122G>A | CA491170292 | STRA6 | c.1962C>T (p.Phe654=) c.1938C>T (p.Phe646=) c.1935C>T (p.Phe645=) c.2073C>T (p.Phe691=) n.1671C>T c.2079C>T (p.Phe693=) c.2007C>T (p.Phe669=) n.2234C>T c.1773C>T (p.Phe591=) c.2010C>T (p.Phe670=) | gnomAD v4 |
| 15 | g.74180122G>C | CA393128219 | STRA6 | c.1962C>G (p.Phe654Leu) c.1938C>G (p.Phe646Leu) c.1935C>G (p.Phe645Leu) c.2073C>G (p.Phe691Leu) n.1671C>G c.2079C>G (p.Phe693Leu) c.2007C>G (p.Phe669Leu) n.2234C>G c.1773C>G (p.Phe591Leu) c.2010C>G (p.Phe670Leu) | |
| 15 | g.74180122G>T | CA393128220 | STRA6 | c.1962C>A (p.Phe654Leu) c.1938C>A (p.Phe646Leu) c.1935C>A (p.Phe645Leu) c.2073C>A (p.Phe691Leu) n.1671C>A c.2079C>A (p.Phe693Leu) c.2007C>A (p.Phe669Leu) n.2234C>A c.1773C>A (p.Phe591Leu) c.2010C>A (p.Phe670Leu) | |
| 15 | g.74180123A>C | CA393128221 | STRA6 | c.1961T>G (p.Phe654Cys) c.1937T>G (p.Phe646Cys) c.1934T>G (p.Phe645Cys) c.2072T>G (p.Phe691Cys) n.1670T>G c.2078T>G (p.Phe693Cys) c.2006T>G (p.Phe669Cys) n.2233T>G c.1772T>G (p.Phe591Cys) c.2009T>G (p.Phe670Cys) | |
| 15 | g.74180123A>G | CA393128222 | STRA6 | c.1961T>C (p.Phe654Ser) c.1937T>C (p.Phe646Ser) c.1934T>C (p.Phe645Ser) c.2072T>C (p.Phe691Ser) n.1670T>C c.2078T>C (p.Phe693Ser) c.2006T>C (p.Phe669Ser) n.2233T>C c.1772T>C (p.Phe591Ser) c.2009T>C (p.Phe670Ser) | |
| 15 | g.74180123A>T | CA393128223 | STRA6 | c.1961T>A (p.Phe654Tyr) c.1937T>A (p.Phe646Tyr) c.1934T>A (p.Phe645Tyr) c.2072T>A (p.Phe691Tyr) n.1670T>A c.2078T>A (p.Phe693Tyr) c.2006T>A (p.Phe669Tyr) n.2233T>A c.1772T>A (p.Phe591Tyr) c.2009T>A (p.Phe670Tyr) | |
| 15 | g.74180124A>C | CA393128224 | STRA6 | c.1960T>G (p.Phe654Val) c.1936T>G (p.Phe646Val) c.1933T>G (p.Phe645Val) c.2071T>G (p.Phe691Val) n.1669T>G c.2077T>G (p.Phe693Val) c.2005T>G (p.Phe669Val) n.2232T>G c.1771T>G (p.Phe591Val) c.2008T>G (p.Phe670Val) | |
| 15 | g.74180124A>G | CA393128225 | STRA6 | c.1960T>C (p.Phe654Leu) c.1936T>C (p.Phe646Leu) c.1933T>C (p.Phe645Leu) c.2071T>C (p.Phe691Leu) n.1669T>C c.2077T>C (p.Phe693Leu) c.2005T>C (p.Phe669Leu) n.2232T>C c.1771T>C (p.Phe591Leu) c.2008T>C (p.Phe670Leu) | |
| 15 | g.74180124A>T | CA393128226 | STRA6 | c.1960T>A (p.Phe654Ile) c.1936T>A (p.Phe646Ile) c.1933T>A (p.Phe645Ile) c.2071T>A (p.Phe691Ile) n.1669T>A c.2077T>A (p.Phe693Ile) c.2005T>A (p.Phe669Ile) n.2232T>A c.1771T>A (p.Phe591Ile) c.2008T>A (p.Phe670Ile) | |
| 15 | g.74180125G>A | CA491170295 | STRA6 | c.1959C>T (p.Val653=) c.1935C>T (p.Val645=) c.1932C>T (p.Val644=) c.2070C>T (p.Val690=) n.1668C>T c.2076C>T (p.Val692=) c.2004C>T (p.Val668=) n.2231C>T c.1770C>T (p.Val590=) c.2007C>T (p.Val669=) | |
| 15 | g.74180125G>C | CA491170294 | STRA6 | c.1959C>G (p.Val653=) c.1935C>G (p.Val645=) c.1932C>G (p.Val644=) c.2070C>G (p.Val690=) n.1668C>G c.2076C>G (p.Val692=) c.2004C>G (p.Val668=) n.2231C>G c.1770C>G (p.Val590=) c.2007C>G (p.Val669=) | |
| 15 | g.74180125G>T | CA491170293 | STRA6 | c.1959C>A (p.Val653=) c.1935C>A (p.Val645=) c.1932C>A (p.Val644=) c.2070C>A (p.Val690=) n.1668C>A c.2076C>A (p.Val692=) c.2004C>A (p.Val668=) n.2231C>A c.1770C>A (p.Val590=) c.2007C>A (p.Val669=) | |
| 15 | g.74180126A>C | CA393128229 | STRA6 | c.1958T>G (p.Val653Gly) c.1934T>G (p.Val645Gly) c.1931T>G (p.Val644Gly) c.2069T>G (p.Val690Gly) n.1667T>G c.2075T>G (p.Val692Gly) c.2003T>G (p.Val668Gly) n.2230T>G c.1769T>G (p.Val590Gly) c.2006T>G (p.Val669Gly) | |
| 15 | g.74180126A>G | CA393128228 | STRA6 | c.1958T>C (p.Val653Ala) c.1934T>C (p.Val645Ala) c.1931T>C (p.Val644Ala) c.2069T>C (p.Val690Ala) n.1667T>C c.2075T>C (p.Val692Ala) c.2003T>C (p.Val668Ala) n.2230T>C c.1769T>C (p.Val590Ala) c.2006T>C (p.Val669Ala) | |
| 15 | g.74180126A>T | CA393128227 | STRA6 | c.1958T>A (p.Val653Asp) c.1934T>A (p.Val645Asp) c.1931T>A (p.Val644Asp) c.2069T>A (p.Val690Asp) n.1667T>A c.2075T>A (p.Val692Asp) c.2003T>A (p.Val668Asp) n.2230T>A c.1769T>A (p.Val590Asp) c.2006T>A (p.Val669Asp) | gnomAD v4 |
| 15 | g.74180127C>A | CA393128230 | STRA6 | c.1957G>T (p.Val653Phe) c.1933G>T (p.Val645Phe) c.1930G>T (p.Val644Phe) c.2068G>T (p.Val690Phe) n.1666G>T c.2074G>T (p.Val692Phe) c.2002G>T (p.Val668Phe) n.2229G>T c.1768G>T (p.Val590Phe) c.2005G>T (p.Val669Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74180127C= | CA2187549708 | STRA6 | c.1957G= (p.Val653=) c.1933G= (p.Val645=) c.1930G= (p.Val644=) c.2068G= (p.Val690=) n.1666G= c.2074G= (p.Val692=) c.2002G= (p.Val668=) n.2229G= c.1768G= (p.Val590=) c.2005G= (p.Val669=) | |
| 15 | g.74180127C>G | CA393128231 | STRA6 | c.1957G>C (p.Val653Leu) c.1933G>C (p.Val645Leu) c.1930G>C (p.Val644Leu) c.2068G>C (p.Val690Leu) n.1666G>C c.2074G>C (p.Val692Leu) c.2002G>C (p.Val668Leu) n.2229G>C c.1768G>C (p.Val590Leu) c.2005G>C (p.Val669Leu) | |
| 15 | g.74180127C>T | CA7654380 | STRA6 | c.1957G>A (p.Val653Ile) c.1933G>A (p.Val645Ile) c.1930G>A (p.Val644Ile) c.2068G>A (p.Val690Ile) n.1666G>A c.2074G>A (p.Val692Ile) c.2002G>A (p.Val668Ile) n.2229G>A c.1768G>A (p.Val590Ile) c.2005G>A (p.Val669Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180128C>A | CA393128232 | STRA6 | c.1956G>T (p.Gln652His) c.1932G>T (p.Gln644His) c.1929G>T (p.Gln643His) c.2067G>T (p.Gln689His) n.1665G>T c.2073G>T (p.Gln691His) c.2001G>T (p.Gln667His) n.2228G>T c.1767G>T (p.Gln589His) c.2004G>T (p.Gln668His) | |
| 15 | g.74180128C>G | CA393128233 | STRA6 | c.1956G>C (p.Gln652His) c.1932G>C (p.Gln644His) c.1929G>C (p.Gln643His) c.2067G>C (p.Gln689His) n.1665G>C c.2073G>C (p.Gln691His) c.2001G>C (p.Gln667His) n.2228G>C c.1767G>C (p.Gln589His) c.2004G>C (p.Gln668His) | |
| 15 | g.74180128C>T | CA491170296 | STRA6 | c.1956G>A (p.Gln652=) c.1932G>A (p.Gln644=) c.1929G>A (p.Gln643=) c.2067G>A (p.Gln689=) n.1665G>A c.2073G>A (p.Gln691=) c.2001G>A (p.Gln667=) n.2228G>A c.1767G>A (p.Gln589=) c.2004G>A (p.Gln668=) | |
| 15 | g.74180129T>A | CA393128234 | STRA6 | c.1955A>T (p.Gln652Leu) c.1931A>T (p.Gln644Leu) c.1928A>T (p.Gln643Leu) c.2066A>T (p.Gln689Leu) n.1664A>T c.2072A>T (p.Gln691Leu) c.2000A>T (p.Gln667Leu) n.2227A>T c.1766A>T (p.Gln589Leu) c.2003A>T (p.Gln668Leu) | gnomAD v4 |
| 15 | g.74180129T>C | CA393128235 | STRA6 | c.1955A>G (p.Gln652Arg) c.1931A>G (p.Gln644Arg) c.1928A>G (p.Gln643Arg) c.2066A>G (p.Gln689Arg) n.1664A>G c.2072A>G (p.Gln691Arg) c.2000A>G (p.Gln667Arg) n.2227A>G c.1766A>G (p.Gln589Arg) c.2003A>G (p.Gln668Arg) | |
| 15 | g.74180129T>G | CA393128236 | STRA6 | c.1955A>C (p.Gln652Pro) c.1931A>C (p.Gln644Pro) c.1928A>C (p.Gln643Pro) c.2066A>C (p.Gln689Pro) n.1664A>C c.2072A>C (p.Gln691Pro) c.2000A>C (p.Gln667Pro) n.2227A>C c.1766A>C (p.Gln589Pro) c.2003A>C (p.Gln668Pro) | |
| 15 | g.74180130G>A | CA393128237 | STRA6 | c.1954C>T (p.Gln652Ter) c.1930C>T (p.Gln644Ter) c.1927C>T (p.Gln643Ter) c.2065C>T (p.Gln689Ter) n.1663C>T c.2071C>T (p.Gln691Ter) c.1999C>T (p.Gln667Ter) n.2226C>T c.1765C>T (p.Gln589Ter) c.2002C>T (p.Gln668Ter) | |
| 15 | g.74180130G>C | CA393128238 | STRA6 | c.1954C>G (p.Gln652Glu) c.1930C>G (p.Gln644Glu) c.1927C>G (p.Gln643Glu) c.2065C>G (p.Gln689Glu) n.1663C>G c.2071C>G (p.Gln691Glu) c.1999C>G (p.Gln667Glu) n.2226C>G c.1765C>G (p.Gln589Glu) c.2002C>G (p.Gln668Glu) | |
| 15 | g.74180130G>T | CA393128239 | STRA6 | c.1954C>A (p.Gln652Lys) c.1930C>A (p.Gln644Lys) c.1927C>A (p.Gln643Lys) c.2065C>A (p.Gln689Lys) n.1663C>A c.2071C>A (p.Gln691Lys) c.1999C>A (p.Gln667Lys) n.2226C>A c.1765C>A (p.Gln589Lys) c.2002C>A (p.Gln668Lys) | |
| 15 | g.74180131C>A | CA491170299 | STRA6 | c.1953G>T (p.Leu651=) c.1929G>T (p.Leu643=) c.1926G>T (p.Leu642=) c.2064G>T (p.Leu688=) n.1662G>T c.2070G>T (p.Leu690=) c.1998G>T (p.Leu666=) n.2225G>T c.1764G>T (p.Leu588=) c.2001G>T (p.Leu667=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74180131C= | CA2187549709 | STRA6 | c.1953G= (p.Leu651=) c.1929G= (p.Leu643=) c.1926G= (p.Leu642=) c.2064G= (p.Leu688=) n.1662G= c.2070G= (p.Leu690=) c.1998G= (p.Leu666=) n.2225G= c.1764G= (p.Leu588=) c.2001G= (p.Leu667=) | |
| 15 | g.74180131C>G | CA491170297 | STRA6 | c.1953G>C (p.Leu651=) c.1929G>C (p.Leu643=) c.1926G>C (p.Leu642=) c.2064G>C (p.Leu688=) n.1662G>C c.2070G>C (p.Leu690=) c.1998G>C (p.Leu666=) n.2225G>C c.1764G>C (p.Leu588=) c.2001G>C (p.Leu667=) | |
| 15 | g.74180131C>T | CA491170298 | STRA6 | c.1953G>A (p.Leu651=) c.1929G>A (p.Leu643=) c.1926G>A (p.Leu642=) c.2064G>A (p.Leu688=) n.1662G>A c.2070G>A (p.Leu690=) c.1998G>A (p.Leu666=) n.2225G>A c.1764G>A (p.Leu588=) c.2001G>A (p.Leu667=) | gnomAD v4 |
| 15 | g.74180132A>C | CA393128242 | STRA6 | c.1952T>G (p.Leu651Arg) c.1928T>G (p.Leu643Arg) c.1925T>G (p.Leu642Arg) c.2063T>G (p.Leu688Arg) n.1661T>G c.2069T>G (p.Leu690Arg) c.1997T>G (p.Leu666Arg) n.2224T>G c.1763T>G (p.Leu588Arg) c.2000T>G (p.Leu667Arg) | |
| 15 | g.74180132A>G | CA393128241 | STRA6 | c.1952T>C (p.Leu651Pro) c.1928T>C (p.Leu643Pro) c.1925T>C (p.Leu642Pro) c.2063T>C (p.Leu688Pro) n.1661T>C c.2069T>C (p.Leu690Pro) c.1997T>C (p.Leu666Pro) n.2224T>C c.1763T>C (p.Leu588Pro) c.2000T>C (p.Leu667Pro) | |
| 15 | g.74180132A>T | CA393128240 | STRA6 | c.1952T>A (p.Leu651Gln) c.1928T>A (p.Leu643Gln) c.1925T>A (p.Leu642Gln) c.2063T>A (p.Leu688Gln) n.1661T>A c.2069T>A (p.Leu690Gln) c.1997T>A (p.Leu666Gln) n.2224T>A c.1763T>A (p.Leu588Gln) c.2000T>A (p.Leu667Gln) | |
| 15 | g.74180133G>A | CA491170300 | STRA6 | c.1951C>T (p.Leu651=) c.1927C>T (p.Leu643=) c.1924C>T (p.Leu642=) c.2062C>T (p.Leu688=) n.1660C>T c.2068C>T (p.Leu690=) c.1996C>T (p.Leu666=) n.2223C>T c.1762C>T (p.Leu588=) c.1999C>T (p.Leu667=) | |
| 15 | g.74180133G>C | CA393128243 | STRA6 | c.1951C>G (p.Leu651Val) c.1927C>G (p.Leu643Val) c.1924C>G (p.Leu642Val) c.2062C>G (p.Leu688Val) n.1660C>G c.2068C>G (p.Leu690Val) c.1996C>G (p.Leu666Val) n.2223C>G c.1762C>G (p.Leu588Val) c.1999C>G (p.Leu667Val) | |
| 15 | g.74180133G>T | CA393128244 | STRA6 | c.1951C>A (p.Leu651Met) c.1927C>A (p.Leu643Met) c.1924C>A (p.Leu642Met) c.2062C>A (p.Leu688Met) n.1660C>A c.2068C>A (p.Leu690Met) c.1996C>A (p.Leu666Met) n.2223C>A c.1762C>A (p.Leu588Met) c.1999C>A (p.Leu667Met) | |
| 15 | g.74180134G>A | CA7654381 | STRA6 | c.1950C>T (p.Thr650=) c.1926C>T (p.Thr642=) c.1923C>T (p.Thr641=) c.2061C>T (p.Thr687=) n.1659C>T c.2067C>T (p.Thr689=) c.1995C>T (p.Thr665=) n.2222C>T c.1761C>T (p.Thr587=) c.1998C>T (p.Thr666=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74180134G>C | CA491170301 | STRA6 | c.1950C>G (p.Thr650=) c.1926C>G (p.Thr642=) c.1923C>G (p.Thr641=) c.2061C>G (p.Thr687=) n.1659C>G c.2067C>G (p.Thr689=) c.1995C>G (p.Thr665=) n.2222C>G c.1761C>G (p.Thr587=) c.1998C>G (p.Thr666=) | |
| 15 | g.74180134G= | CA2187549710 | STRA6 | c.1950C= (p.Thr650=) c.1926C= (p.Thr642=) c.1923C= (p.Thr641=) c.2061C= (p.Thr687=) n.1659C= c.2067C= (p.Thr689=) c.1995C= (p.Thr665=) n.2222C= c.1761C= (p.Thr587=) c.1998C= (p.Thr666=) | |
| 15 | g.74180134G>T | CA491170302 | STRA6 | c.1950C>A (p.Thr650=) c.1926C>A (p.Thr642=) c.1923C>A (p.Thr641=) c.2061C>A (p.Thr687=) n.1659C>A c.2067C>A (p.Thr689=) c.1995C>A (p.Thr665=) n.2222C>A c.1761C>A (p.Thr587=) c.1998C>A (p.Thr666=) | |
| 15 | g.74180135G>A | CA393128245 | STRA6 | c.1949C>T (p.Thr650Ile) c.1925C>T (p.Thr642Ile) c.1922C>T (p.Thr641Ile) c.2060C>T (p.Thr687Ile) n.1658C>T c.2066C>T (p.Thr689Ile) c.1994C>T (p.Thr665Ile) n.2221C>T c.1760C>T (p.Thr587Ile) c.1997C>T (p.Thr666Ile) | |
| 15 | g.74180135G>C | CA393128246 | STRA6 | c.1949C>G (p.Thr650Ser) c.1925C>G (p.Thr642Ser) c.1922C>G (p.Thr641Ser) c.2060C>G (p.Thr687Ser) n.1658C>G c.2066C>G (p.Thr689Ser) c.1994C>G (p.Thr665Ser) n.2221C>G c.1760C>G (p.Thr587Ser) c.1997C>G (p.Thr666Ser) | |
| 15 | g.74180135G>T | CA393128247 | STRA6 | c.1949C>A (p.Thr650Asn) c.1925C>A (p.Thr642Asn) c.1922C>A (p.Thr641Asn) c.2060C>A (p.Thr687Asn) n.1658C>A c.2066C>A (p.Thr689Asn) c.1994C>A (p.Thr665Asn) n.2221C>A c.1760C>A (p.Thr587Asn) c.1997C>A (p.Thr666Asn) |