| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36217399del | CA2580080486 | CLTA,GNE | c.2228del (p.Met743ArgfsTer?) c.1958del (p.Met653ArgfsTer?) c.2135del (p.Met712ArgfsTer?) c.1913del (p.Met638ArgfsTer?) c.485+13220del (n.485+13220del) c.1805del (p.Met602ArgfsTer?) c.2120del (p.Met707ArgfsTer?) c.2075del (p.Met692ArgfsTer?) c.1982del (p.Met661ArgfsTer?) | ClinVar |
| 9 | g.36217399A= | CA1846323685 | CLTA,GNE | c.2228T= (p.Met743=) c.1958T= (p.Met653=) c.2135T= (p.Met712=) c.1913T= (p.Met638=) c.485+13220A= (n.485+13220A=) c.1805T= (p.Met602=) c.2120T= (p.Met707=) c.2075T= (p.Met692=) c.1982T= (p.Met661=) | |
| 9 | g.36217399A>C | CA373424210 | CLTA,GNE | c.2228T>G (p.Met743Arg) c.1958T>G (p.Met653Arg) c.2135T>G (p.Met712Arg) c.1913T>G (p.Met638Arg) c.485+13220A>C (n.485+13220A>C) c.1805T>G (p.Met602Arg) c.2120T>G (p.Met707Arg) c.2075T>G (p.Met692Arg) c.1982T>G (p.Met661Arg) | |
| 9 | g.36217399A>G | CA253679 | CLTA,GNE | c.2228T>C (p.Met743Thr) c.1958T>C (p.Met653Thr) c.2135T>C (p.Met712Thr) c.1913T>C (p.Met638Thr) c.485+13220A>G (n.485+13220A>G) c.1805T>C (p.Met602Thr) c.2120T>C (p.Met707Thr) c.2075T>C (p.Met692Thr) c.1982T>C (p.Met661Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.36217399A>T | CA373424212 | CLTA,GNE | c.2228T>A (p.Met743Lys) c.1958T>A (p.Met653Lys) c.2135T>A (p.Met712Lys) c.1913T>A (p.Met638Lys) c.485+13220A>T (n.485+13220A>T) c.1805T>A (p.Met602Lys) c.2120T>A (p.Met707Lys) c.2075T>A (p.Met692Lys) c.1982T>A (p.Met661Lys) | |
| 9 | g.36217400T>A | CA373424217 | CLTA,GNE | c.2227A>T (p.Met743Leu) c.1957A>T (p.Met653Leu) c.2134A>T (p.Met712Leu) c.1912A>T (p.Met638Leu) c.485+13221T>A (n.485+13221T>A) c.1804A>T (p.Met602Leu) c.2119A>T (p.Met707Leu) c.2074A>T (p.Met692Leu) c.1981A>T (p.Met661Leu) | |
| 9 | g.36217400T>C | CA373424214 | CLTA,GNE | c.2227A>G (p.Met743Val) c.1957A>G (p.Met653Val) c.2134A>G (p.Met712Val) c.1912A>G (p.Met638Val) c.485+13221T>C (n.485+13221T>C) c.1804A>G (p.Met602Val) c.2119A>G (p.Met707Val) c.2074A>G (p.Met692Val) c.1981A>G (p.Met661Val) | gnomAD v4 |
| 9 | g.36217400T>G | CA373424216 | CLTA,GNE | c.2227A>C (p.Met743Leu) c.1957A>C (p.Met653Leu) c.2134A>C (p.Met712Leu) c.1912A>C (p.Met638Leu) c.485+13221T>G (n.485+13221T>G) c.1804A>C (p.Met602Leu) c.2119A>C (p.Met707Leu) c.2074A>C (p.Met692Leu) c.1981A>C (p.Met661Leu) | |
| 9 | g.36217401G>A | CA464494582 | CLTA,GNE | c.2226C>T (p.Ser742=) c.1956C>T (p.Ser652=) c.2133C>T (p.Ser711=) c.1911C>T (p.Ser637=) c.485+13222G>A (n.485+13222G>A) c.1803C>T (p.Ser601=) c.2118C>T (p.Ser706=) c.2073C>T (p.Ser691=) c.1980C>T (p.Ser660=) | |
| 9 | g.36217401G>C | CA373424219 | CLTA,GNE | c.2226C>G (p.Ser742Arg) c.1956C>G (p.Ser652Arg) c.2133C>G (p.Ser711Arg) c.1911C>G (p.Ser637Arg) c.485+13222G>C (n.485+13222G>C) c.1803C>G (p.Ser601Arg) c.2118C>G (p.Ser706Arg) c.2073C>G (p.Ser691Arg) c.1980C>G (p.Ser660Arg) | |
| 9 | g.36217401G>T | CA373424221 | CLTA,GNE | c.2226C>A (p.Ser742Arg) c.1956C>A (p.Ser652Arg) c.2133C>A (p.Ser711Arg) c.1911C>A (p.Ser637Arg) c.485+13222G>T (n.485+13222G>T) c.1803C>A (p.Ser601Arg) c.2118C>A (p.Ser706Arg) c.2073C>A (p.Ser691Arg) c.1980C>A (p.Ser660Arg) | |
| 9 | g.36217402C>A | CA373424223 | CLTA,GNE | c.2225G>T (p.Ser742Ile) c.1955G>T (p.Ser652Ile) c.2132G>T (p.Ser711Ile) c.1910G>T (p.Ser637Ile) c.485+13223C>A (n.485+13223C>A) c.1802G>T (p.Ser601Ile) c.2117G>T (p.Ser706Ile) c.2072G>T (p.Ser691Ile) c.1979G>T (p.Ser660Ile) | |
| 9 | g.36217402C= | CA1846323690 | CLTA,GNE | c.2225G= (p.Ser742=) c.1955G= (p.Ser652=) c.2132G= (p.Ser711=) c.1910G= (p.Ser637=) c.485+13223C= (n.485+13223C=) c.1802G= (p.Ser601=) c.2117G= (p.Ser706=) c.2072G= (p.Ser691=) c.1979G= (p.Ser660=) | |
| 9 | g.36217402C>G | CA373424224 | CLTA,GNE | c.2225G>C (p.Ser742Thr) c.1955G>C (p.Ser652Thr) c.2132G>C (p.Ser711Thr) c.1910G>C (p.Ser637Thr) c.485+13223C>G (n.485+13223C>G) c.1802G>C (p.Ser601Thr) c.2117G>C (p.Ser706Thr) c.2072G>C (p.Ser691Thr) c.1979G>C (p.Ser660Thr) | |
| 9 | g.36217402C>T | CA373424226 | CLTA,GNE | c.2225G>A (p.Ser742Asn) c.1955G>A (p.Ser652Asn) c.2132G>A (p.Ser711Asn) c.1910G>A (p.Ser637Asn) c.485+13223C>T (n.485+13223C>T) c.1802G>A (p.Ser601Asn) c.2117G>A (p.Ser706Asn) c.2072G>A (p.Ser691Asn) c.1979G>A (p.Ser660Asn) | dbSNP gnomAD v2 |
| 9 | g.36217403T>A | CA373424228 | CLTA,GNE | c.2224A>T (p.Ser742Cys) c.1954A>T (p.Ser652Cys) c.2131A>T (p.Ser711Cys) c.1909A>T (p.Ser637Cys) c.485+13224T>A (n.485+13224T>A) c.1801A>T (p.Ser601Cys) c.2116A>T (p.Ser706Cys) c.2071A>T (p.Ser691Cys) c.1978A>T (p.Ser660Cys) | |
| 9 | g.36217403T>C | CA373424229 | CLTA,GNE | c.2224A>G (p.Ser742Gly) c.1954A>G (p.Ser652Gly) c.2131A>G (p.Ser711Gly) c.1909A>G (p.Ser637Gly) c.485+13224T>C (n.485+13224T>C) c.1801A>G (p.Ser601Gly) c.2116A>G (p.Ser706Gly) c.2071A>G (p.Ser691Gly) c.1978A>G (p.Ser660Gly) | |
| 9 | g.36217403T>G | CA373424231 | CLTA,GNE | c.2224A>C (p.Ser742Arg) c.1954A>C (p.Ser652Arg) c.2131A>C (p.Ser711Arg) c.1909A>C (p.Ser637Arg) c.485+13224T>G (n.485+13224T>G) c.1801A>C (p.Ser601Arg) c.2116A>C (p.Ser706Arg) c.2071A>C (p.Ser691Arg) c.1978A>C (p.Ser660Arg) | |
| 9 | g.36217404G>A | CA464494583 | CLTA,GNE | c.2223C>T (p.Ala741=) c.1953C>T (p.Ala651=) c.2130C>T (p.Ala710=) c.1908C>T (p.Ala636=) c.485+13225G>A (n.485+13225G>A) c.1800C>T (p.Ala600=) c.2115C>T (p.Ala705=) c.2070C>T (p.Ala690=) c.1977C>T (p.Ala659=) | |
| 9 | g.36217404G>C | CA464494584 | CLTA,GNE | c.2223C>G (p.Ala741=) c.1953C>G (p.Ala651=) c.2130C>G (p.Ala710=) c.1908C>G (p.Ala636=) c.485+13225G>C (n.485+13225G>C) c.1800C>G (p.Ala600=) c.2115C>G (p.Ala705=) c.2070C>G (p.Ala690=) c.1977C>G (p.Ala659=) | |
| 9 | g.36217404G>T | CA464494585 | CLTA,GNE | c.2223C>A (p.Ala741=) c.1953C>A (p.Ala651=) c.2130C>A (p.Ala710=) c.1908C>A (p.Ala636=) c.485+13225G>T (n.485+13225G>T) c.1800C>A (p.Ala600=) c.2115C>A (p.Ala705=) c.2070C>A (p.Ala690=) c.1977C>A (p.Ala659=) | |
| 9 | g.36217405G>A | CA373424232 | CLTA,GNE | c.2222C>T (p.Ala741Val) c.1952C>T (p.Ala651Val) c.2129C>T (p.Ala710Val) c.1907C>T (p.Ala636Val) c.485+13226G>A (n.485+13226G>A) c.1799C>T (p.Ala600Val) c.2114C>T (p.Ala705Val) c.2069C>T (p.Ala690Val) c.1976C>T (p.Ala659Val) | |
| 9 | g.36217405G>C | CA373424233 | CLTA,GNE | c.2222C>G (p.Ala741Gly) c.1952C>G (p.Ala651Gly) c.2129C>G (p.Ala710Gly) c.1907C>G (p.Ala636Gly) c.485+13226G>C (n.485+13226G>C) c.1799C>G (p.Ala600Gly) c.2114C>G (p.Ala705Gly) c.2069C>G (p.Ala690Gly) c.1976C>G (p.Ala659Gly) | |
| 9 | g.36217405G>T | CA373424234 | CLTA,GNE | c.2222C>A (p.Ala741Asp) c.1952C>A (p.Ala651Asp) c.2129C>A (p.Ala710Asp) c.1907C>A (p.Ala636Asp) c.485+13226G>T (n.485+13226G>T) c.1799C>A (p.Ala600Asp) c.2114C>A (p.Ala705Asp) c.2069C>A (p.Ala690Asp) c.1976C>A (p.Ala659Asp) | |
| 9 | g.36217406C>A | CA373424237 | CLTA,GNE | c.2221G>T (p.Ala741Ser) c.1951G>T (p.Ala651Ser) c.2128G>T (p.Ala710Ser) c.1906G>T (p.Ala636Ser) c.485+13227C>A (n.485+13227C>A) c.1798G>T (p.Ala600Ser) c.2113G>T (p.Ala705Ser) c.2068G>T (p.Ala690Ser) c.1975G>T (p.Ala659Ser) | |
| 9 | g.36217406C>G | CA373424239 | CLTA,GNE | c.2221G>C (p.Ala741Pro) c.1951G>C (p.Ala651Pro) c.2128G>C (p.Ala710Pro) c.1906G>C (p.Ala636Pro) c.485+13227C>G (n.485+13227C>G) c.1798G>C (p.Ala600Pro) c.2113G>C (p.Ala705Pro) c.2068G>C (p.Ala690Pro) c.1975G>C (p.Ala659Pro) | |
| 9 | g.36217406C>T | CA373424235 | CLTA,GNE | c.2221G>A (p.Ala741Thr) c.1951G>A (p.Ala651Thr) c.2128G>A (p.Ala710Thr) c.1906G>A (p.Ala636Thr) c.485+13227C>T (n.485+13227C>T) c.1798G>A (p.Ala600Thr) c.2113G>A (p.Ala705Thr) c.2068G>A (p.Ala690Thr) c.1975G>A (p.Ala659Thr) | |
| 9 | g.36217407A= | CA1846323695 | CLTA,GNE | c.2220T= (p.Ala740=) c.1950T= (p.Ala650=) c.2127T= (p.Ala709=) c.1905T= (p.Ala635=) c.485+13228A= (n.485+13228A=) c.1797T= (p.Ala599=) c.2112T= (p.Ala704=) c.2067T= (p.Ala689=) c.1974T= (p.Ala658=) | |
| 9 | g.36217407A>C | CA464494587 | CLTA,GNE | c.2220T>G (p.Ala740=) c.1950T>G (p.Ala650=) c.2127T>G (p.Ala709=) c.1905T>G (p.Ala635=) c.485+13228A>C (n.485+13228A>C) c.1797T>G (p.Ala599=) c.2112T>G (p.Ala704=) c.2067T>G (p.Ala689=) c.1974T>G (p.Ala658=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.36217407A>G | CA464494588 | CLTA,GNE | c.2220T>C (p.Ala740=) c.1950T>C (p.Ala650=) c.2127T>C (p.Ala709=) c.1905T>C (p.Ala635=) c.485+13228A>G (n.485+13228A>G) c.1797T>C (p.Ala599=) c.2112T>C (p.Ala704=) c.2067T>C (p.Ala689=) c.1974T>C (p.Ala658=) | ClinVar dbSNP |
| 9 | g.36217407A>T | CA464494586 | CLTA,GNE | c.2220T>A (p.Ala740=) c.1950T>A (p.Ala650=) c.2127T>A (p.Ala709=) c.1905T>A (p.Ala635=) c.485+13228A>T (n.485+13228A>T) c.1797T>A (p.Ala599=) c.2112T>A (p.Ala704=) c.2067T>A (p.Ala689=) c.1974T>A (p.Ala658=) | |
| 9 | g.36217408G>A | CA373424241 | CLTA,GNE | c.2219C>T (p.Ala740Val) c.1949C>T (p.Ala650Val) c.2126C>T (p.Ala709Val) c.1904C>T (p.Ala635Val) c.485+13229G>A (n.485+13229G>A) c.1796C>T (p.Ala599Val) c.2111C>T (p.Ala704Val) c.2066C>T (p.Ala689Val) c.1973C>T (p.Ala658Val) | |
| 9 | g.36217408G>C | CA373424242 | CLTA,GNE | c.2219C>G (p.Ala740Gly) c.1949C>G (p.Ala650Gly) c.2126C>G (p.Ala709Gly) c.1904C>G (p.Ala635Gly) c.485+13229G>C (n.485+13229G>C) c.1796C>G (p.Ala599Gly) c.2111C>G (p.Ala704Gly) c.2066C>G (p.Ala689Gly) c.1973C>G (p.Ala658Gly) | |
| 9 | g.36217408G>T | CA373424244 | CLTA,GNE | c.2219C>A (p.Ala740Asp) c.1949C>A (p.Ala650Asp) c.2126C>A (p.Ala709Asp) c.1904C>A (p.Ala635Asp) c.485+13229G>T (n.485+13229G>T) c.1796C>A (p.Ala599Asp) c.2111C>A (p.Ala704Asp) c.2066C>A (p.Ala689Asp) c.1973C>A (p.Ala658Asp) | |
| 9 | g.36217409C>A | CA373424246 | CLTA,GNE | c.2218G>T (p.Ala740Ser) c.1948G>T (p.Ala650Ser) c.2125G>T (p.Ala709Ser) c.1903G>T (p.Ala635Ser) c.485+13230C>A (n.485+13230C>A) c.1795G>T (p.Ala599Ser) c.2110G>T (p.Ala704Ser) c.2065G>T (p.Ala689Ser) c.1972G>T (p.Ala658Ser) | |
| 9 | g.36217409C>G | CA373424248 | CLTA,GNE | c.2218G>C (p.Ala740Pro) c.1948G>C (p.Ala650Pro) c.2125G>C (p.Ala709Pro) c.1903G>C (p.Ala635Pro) c.485+13230C>G (n.485+13230C>G) c.1795G>C (p.Ala599Pro) c.2110G>C (p.Ala704Pro) c.2065G>C (p.Ala689Pro) c.1972G>C (p.Ala658Pro) | |
| 9 | g.36217409C>T | CA373424249 | CLTA,GNE | c.2218G>A (p.Ala740Thr) c.1948G>A (p.Ala650Thr) c.2125G>A (p.Ala709Thr) c.1903G>A (p.Ala635Thr) c.485+13230C>T (n.485+13230C>T) c.1795G>A (p.Ala599Thr) c.2110G>A (p.Ala704Thr) c.2065G>A (p.Ala689Thr) c.1972G>A (p.Ala658Thr) | gnomAD v4 |
| 9 | g.36217410A>C | CA464494589 | CLTA,GNE | c.2217T>G (p.Gly739=) c.1947T>G (p.Gly649=) c.2124T>G (p.Gly708=) c.1902T>G (p.Gly634=) c.485+13231A>C (n.485+13231A>C) c.1794T>G (p.Gly598=) c.2109T>G (p.Gly703=) c.2064T>G (p.Gly688=) c.1971T>G (p.Gly657=) | |
| 9 | g.36217410A>G | CA464494590 | CLTA,GNE | c.2217T>C (p.Gly739=) c.1947T>C (p.Gly649=) c.2124T>C (p.Gly708=) c.1902T>C (p.Gly634=) c.485+13231A>G (n.485+13231A>G) c.1794T>C (p.Gly598=) c.2109T>C (p.Gly703=) c.2064T>C (p.Gly688=) c.1971T>C (p.Gly657=) | |
| 9 | g.36217410A>T | CA464494591 | CLTA,GNE | c.2217T>A (p.Gly739=) c.1947T>A (p.Gly649=) c.2124T>A (p.Gly708=) c.1902T>A (p.Gly634=) c.485+13231A>T (n.485+13231A>T) c.1794T>A (p.Gly598=) c.2109T>A (p.Gly703=) c.2064T>A (p.Gly688=) c.1971T>A (p.Gly657=) | |
| 9 | g.36217411C>A | CA373424251 | CLTA,GNE | c.2216G>T (p.Gly739Val) c.1946G>T (p.Gly649Val) c.2123G>T (p.Gly708Val) c.1901G>T (p.Gly634Val) c.485+13232C>A (n.485+13232C>A) c.1793G>T (p.Gly598Val) c.2108G>T (p.Gly703Val) c.2063G>T (p.Gly688Val) c.1970G>T (p.Gly657Val) | |
| 9 | g.36217411C>G | CA373424253 | CLTA,GNE | c.2216G>C (p.Gly739Ala) c.1946G>C (p.Gly649Ala) c.2123G>C (p.Gly708Ala) c.1901G>C (p.Gly634Ala) c.485+13232C>G (n.485+13232C>G) c.1793G>C (p.Gly598Ala) c.2108G>C (p.Gly703Ala) c.2063G>C (p.Gly688Ala) c.1970G>C (p.Gly657Ala) | |
| 9 | g.36217411C>T | CA373424255 | CLTA,GNE | c.2216G>A (p.Gly739Asp) c.1946G>A (p.Gly649Asp) c.2123G>A (p.Gly708Asp) c.1901G>A (p.Gly634Asp) c.485+13232C>T (n.485+13232C>T) c.1793G>A (p.Gly598Asp) c.2108G>A (p.Gly703Asp) c.2063G>A (p.Gly688Asp) c.1970G>A (p.Gly657Asp) | gnomAD v4 |
| 9 | g.36217412C>A | CA373424256 | CLTA,GNE | c.2215G>T (p.Gly739Cys) c.1945G>T (p.Gly649Cys) c.2122G>T (p.Gly708Cys) c.1900G>T (p.Gly634Cys) c.485+13233C>A (n.485+13233C>A) c.1792G>T (p.Gly598Cys) c.2107G>T (p.Gly703Cys) c.2062G>T (p.Gly688Cys) c.1969G>T (p.Gly657Cys) | |
| 9 | g.36217412C= | CA1846323710 | CLTA,GNE | c.2215G= (p.Gly739=) c.1945G= (p.Gly649=) c.2122G= (p.Gly708=) c.1900G= (p.Gly634=) c.485+13233C= (n.485+13233C=) c.1792G= (p.Gly598=) c.2107G= (p.Gly703=) c.2062G= (p.Gly688=) c.1969G= (p.Gly657=) | |
| 9 | g.36217412C>G | CA373424258 | CLTA,GNE | c.2215G>C (p.Gly739Arg) c.1945G>C (p.Gly649Arg) c.2122G>C (p.Gly708Arg) c.1900G>C (p.Gly634Arg) c.485+13233C>G (n.485+13233C>G) c.1792G>C (p.Gly598Arg) c.2107G>C (p.Gly703Arg) c.2062G>C (p.Gly688Arg) c.1969G>C (p.Gly657Arg) | |
| 9 | g.36217412C>T | CA373424260 | CLTA,GNE | c.2215G>A (p.Gly739Ser) c.1945G>A (p.Gly649Ser) c.2122G>A (p.Gly708Ser) c.1900G>A (p.Gly634Ser) c.485+13233C>T (n.485+13233C>T) c.1792G>A (p.Gly598Ser) c.2107G>A (p.Gly703Ser) c.2062G>A (p.Gly688Ser) c.1969G>A (p.Gly657Ser) | ClinVar dbSNP gnomAD v4 |
| 9 | g.36217413C>A | CA464494592 | CLTA,GNE | c.2214G>T (p.Leu738=) c.1944G>T (p.Leu648=) c.2121G>T (p.Leu707=) c.1899G>T (p.Leu633=) c.485+13234C>A (n.485+13234C>A) c.1791G>T (p.Leu597=) c.2106G>T (p.Leu702=) c.2061G>T (p.Leu687=) c.1968G>T (p.Leu656=) | |
| 9 | g.36217413C>G | CA464494593 | CLTA,GNE | c.2214G>C (p.Leu738=) c.1944G>C (p.Leu648=) c.2121G>C (p.Leu707=) c.1899G>C (p.Leu633=) c.485+13234C>G (n.485+13234C>G) c.1791G>C (p.Leu597=) c.2106G>C (p.Leu702=) c.2061G>C (p.Leu687=) c.1968G>C (p.Leu656=) | gnomAD v4 |
| 9 | g.36217413C>T | CA464494594 | CLTA,GNE | c.2214G>A (p.Leu738=) c.1944G>A (p.Leu648=) c.2121G>A (p.Leu707=) c.1899G>A (p.Leu633=) c.485+13234C>T (n.485+13234C>T) c.1791G>A (p.Leu597=) c.2106G>A (p.Leu702=) c.2061G>A (p.Leu687=) c.1968G>A (p.Leu656=) |