OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.128345165_128345168delinsGTCC | CA1880238904 | SLC27A4 | c.172_175delinsGTCC (p.Val58=) c.231+1884_231+1887delinsGTCC (n.231+1884_231+1887delinsGTCC) | |
| 9 | g.128345170_128345172del | CA1129319716 | SLC27A4 | c.177_179del (p.Leu60del) c.231+1889_231+1891del (n.231+1889_231+1891del) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.128345168C>A | CA375029274 | SLC27A4 | c.175C>A (p.Leu59Ile) c.231+1887C>A (n.231+1887C>A) | |
| 9 | g.128345168C>G | CA375029275 | SLC27A4 | c.175C>G (p.Leu59Val) c.231+1887C>G (n.231+1887C>G) | |
| 9 | g.128345168C>T | CA375029277 | SLC27A4 | c.175C>T (p.Leu59Phe) c.231+1887C>T (n.231+1887C>T) | |
| 9 | g.128345169T>A | CA375029280 | SLC27A4 | c.176T>A (p.Leu59His) c.231+1888T>A (n.231+1888T>A) | |
| 9 | g.128345169T>C | CA375029285 | SLC27A4 | c.176T>C (p.Leu59Pro) c.231+1888T>C (n.231+1888T>C) | dbSNP |
| 9 | g.128345169T>G | CA375029282 | SLC27A4 | c.176T>G (p.Leu59Arg) c.231+1888T>G (n.231+1888T>G) | |
| 9 | g.128345170C>A | CA467482899 | SLC27A4 | c.177C>A (p.Leu59=) c.231+1889C>A (n.231+1889C>A) | |
| 9 | g.128345170C>G | CA467482898 | SLC27A4 | c.177C>G (p.Leu59=) c.231+1889C>G (n.231+1889C>G) | |
| 9 | g.128345170C>T | CA467482896 | SLC27A4 | c.177C>T (p.Leu59=) c.231+1889C>T (n.231+1889C>T) | |
| 9 | g.128345171C>A | CA375029286 | SLC27A4 | c.178C>A (p.Leu60Met) c.231+1890C>A (n.231+1890C>A) | |
| 9 | g.128345171C>G | CA375029289 | SLC27A4 | c.178C>G (p.Leu60Val) c.231+1890C>G (n.231+1890C>G) | |
| 9 | g.128345171C>T | CA467482900 | SLC27A4 | c.178C>T (p.Leu60=) c.231+1890C>T (n.231+1890C>T) | |
| 9 | g.128345172T>A | CA375029293 | SLC27A4 | c.179T>A (p.Leu60Gln) c.231+1891T>A (n.231+1891T>A) | |
| 9 | g.128345172T>C | CA375029295 | SLC27A4 | c.179T>C (p.Leu60Pro) c.231+1891T>C (n.231+1891T>C) | |
| 9 | g.128345172T>G | CA375029297 | SLC27A4 | c.179T>G (p.Leu60Arg) c.231+1891T>G (n.231+1891T>G) | |
| 9 | g.128345173G>A | CA467482901 | SLC27A4 | c.180G>A (p.Leu60=) c.231+1892G>A (n.231+1892G>A) | |
| 9 | g.128345173G>C | CA467482902 | SLC27A4 | c.180G>C (p.Leu60=) c.231+1892G>C (n.231+1892G>C) | |
| 9 | g.128345173G>T | CA467482903 | SLC27A4 | c.180G>T (p.Leu60=) c.231+1892G>T (n.231+1892G>T) | |
| 9 | g.128345174A= | CA1880238911 | SLC27A4 | c.181A= (p.Lys61=) c.231+1893A= (n.231+1893A=) | |
| 9 | g.128345174A>C | CA5260867 | SLC27A4 | c.181A>C (p.Lys61Gln) c.231+1893A>C (n.231+1893A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128345174A>G | CA375029303 | SLC27A4 | c.181A>G (p.Lys61Glu) c.231+1893A>G (n.231+1893A>G) | |
| 9 | g.128345174A>T | CA375029305 | SLC27A4 | c.181A>T (p.Lys61Ter) c.231+1893A>T (n.231+1893A>T) | |
| 9 | g.128345175A>C | CA375029308 | SLC27A4 | c.182A>C (p.Lys61Thr) c.231+1894A>C (n.231+1894A>C) | |
| 9 | g.128345175A>G | CA375029311 | SLC27A4 | c.182A>G (p.Lys61Arg) c.231+1894A>G (n.231+1894A>G) | |
| 9 | g.128345175A>T | CA375029313 | SLC27A4 | c.182A>T (p.Lys61Met) c.231+1894A>T (n.231+1894A>T) | |
| 9 | g.128345176G>A | CA467482905 | SLC27A4 | c.183G>A (p.Lys61=) c.231+1895G>A (n.231+1895G>A) | |
| 9 | g.128345176G>C | CA375029321 | SLC27A4 | c.183G>C (p.Lys61Asn) c.231+1895G>C (n.231+1895G>C) | |
| 9 | g.128345176G>T | CA375029318 | SLC27A4 | c.183G>T (p.Lys61Asn) c.231+1895G>T (n.231+1895G>T) | |
| 9 | g.128345177G>A | CA375029324 | SLC27A4 | c.184G>A (p.Val62Met) c.231+1896G>A (n.231+1896G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.128345177G>C | CA200350374 | SLC27A4 | c.184G>C (p.Val62Leu) c.231+1896G>C (n.231+1896G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.128345177G= | CA1880238916 | SLC27A4 | c.184G= (p.Val62=) c.231+1896G= (n.231+1896G=) | |
| 9 | g.128345177G>T | CA375029328 | SLC27A4 | c.184G>T (p.Val62Leu) c.231+1896G>T (n.231+1896G>T) | |
| 9 | g.128345178T>A | CA375029331 | SLC27A4 | c.185T>A (p.Val62Glu) c.231+1897T>A (n.231+1897T>A) | |
| 9 | g.128345178T>C | CA375029334 | SLC27A4 | c.185T>C (p.Val62Ala) c.231+1897T>C (n.231+1897T>C) | |
| 9 | g.128345178T>G | CA375029336 | SLC27A4 | c.185T>G (p.Val62Gly) c.231+1897T>G (n.231+1897T>G) | gnomAD v4 |
| 9 | g.128345178T= | CA1880238918 | SLC27A4 | c.185T= (p.Val62=) c.231+1897T= (n.231+1897T=) | |
| 9 | g.128345178_128345179insTCA | CA5260868 | SLC27A4 | c.185_186insTCA (p.Val62_Lys63insGln) c.231+1897_231+1898insTCA (n.231+1897_231+1898insTCA) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128345179G>A | CA467482909 | SLC27A4 | c.186G>A (p.Val62=) c.231+1898G>A (n.231+1898G>A) | dbSNP COSMIC |
| 9 | g.128345179G>C | CA467482910 | SLC27A4 | c.186G>C (p.Val62=) c.231+1898G>C (n.231+1898G>C) | |
| 9 | g.128345179G= | CA1880238921 | SLC27A4 | c.186G= (p.Val62=) c.231+1898G= (n.231+1898G=) | |
| 9 | g.128345179G>T | CA467482911 | SLC27A4 | c.186G>T (p.Val62=) c.231+1898G>T (n.231+1898G>T) | |
| 9 | g.128345180A>C | CA375029345 | SLC27A4 | c.187A>C (p.Lys63Gln) c.231+1899A>C (n.231+1899A>C) | |
| 9 | g.128345180A>G | CA375029340 | SLC27A4 | c.187A>G (p.Lys63Glu) c.231+1899A>G (n.231+1899A>G) | |
| 9 | g.128345180A>T | CA375029343 | SLC27A4 | c.187A>T (p.Lys63Ter) c.231+1899A>T (n.231+1899A>T) | |
| 9 | g.128345181A>C | CA375029347 | SLC27A4 | c.188A>C (p.Lys63Thr) c.231+1900A>C (n.231+1900A>C) | |
| 9 | g.128345181A>G | CA375029349 | SLC27A4 | c.188A>G (p.Lys63Arg) c.231+1900A>G (n.231+1900A>G) | |
| 9 | g.128345181A>T | CA375029351 | SLC27A4 | c.188A>T (p.Lys63Met) c.231+1900A>T (n.231+1900A>T) | |
| 9 | g.128345182G>A | CA467482912 | SLC27A4 | c.189G>A (p.Lys63=) c.231+1901G>A (n.231+1901G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.128345182G>C | CA375029354 | SLC27A4 | c.189G>C (p.Lys63Asn) c.231+1901G>C (n.231+1901G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128345182G= | CA1880238924 | SLC27A4 | c.189G= (p.Lys63=) c.231+1901G= (n.231+1901G=) | |
| 9 | g.128345182G>T | CA375029356 | SLC27A4 | c.189G>T (p.Lys63Asn) c.231+1901G>T (n.231+1901G>T) | gnomAD v4 |
| 9 | g.128345183G>A | CA200350375 | SLC27A4 | c.190G>A (p.Ala64Thr) c.231+1902G>A (n.231+1902G>A) | dbSNP |
| 9 | g.128345183G>C | CA375029362 | SLC27A4 | c.190G>C (p.Ala64Pro) c.231+1902G>C (n.231+1902G>C) | |
| 9 | g.128345183G= | CA1880238931 | SLC27A4 | c.190G= (p.Ala64=) c.231+1902G= (n.231+1902G=) | |
| 9 | g.128345183G>T | CA375029361 | SLC27A4 | c.190G>T (p.Ala64Ser) c.231+1902G>T (n.231+1902G>T) | |
| 9 | g.128345184C>A | CA375029364 | SLC27A4 | c.191C>A (p.Ala64Glu) c.231+1903C>A (n.231+1903C>A) | |
| 9 | g.128345184C>G | CA375029367 | SLC27A4 | c.191C>G (p.Ala64Gly) c.231+1903C>G (n.231+1903C>G) | |
| 9 | g.128345184C>T | CA375029369 | SLC27A4 | c.191C>T (p.Ala64Val) c.231+1903C>T (n.231+1903C>T) | |
| 9 | g.128345185A>C | CA467482913 | SLC27A4 | c.192A>C (p.Ala64=) c.231+1904A>C (n.231+1904A>C) | |
| 9 | g.128345185A>G | CA467482914 | SLC27A4 | c.192A>G (p.Ala64=) c.231+1904A>G (n.231+1904A>G) | |
| 9 | g.128345185A>T | CA467482915 | SLC27A4 | c.192A>T (p.Ala64=) c.231+1904A>T (n.231+1904A>T) | |
| 9 | g.128345186A>C | CA375029372 | SLC27A4 | c.193A>C (p.Lys65Gln) c.231+1905A>C (n.231+1905A>C) | |
| 9 | g.128345186A>G | CA375029373 | SLC27A4 | c.193A>G (p.Lys65Glu) c.231+1905A>G (n.231+1905A>G) | |
| 9 | g.128345186A>T | CA375029376 | SLC27A4 | c.193A>T (p.Lys65Ter) c.231+1905A>T (n.231+1905A>T) | |
| 9 | g.128345187A>C | CA375029378 | SLC27A4 | c.194A>C (p.Lys65Thr) c.231+1906A>C (n.231+1906A>C) | |
| 9 | g.128345187A>G | CA375029383 | SLC27A4 | c.194A>G (p.Lys65Arg) c.231+1906A>G (n.231+1906A>G) | |
| 9 | g.128345187A>T | CA375029385 | SLC27A4 | c.194A>T (p.Lys65Met) c.231+1906A>T (n.231+1906A>T) | |
| 9 | g.128345188G>A | CA467482916 | SLC27A4 | c.195G>A (p.Lys65=) c.231+1907G>A (n.231+1907G>A) | gnomAD v4 |
| 9 | g.128345188G>C | CA375029388 | SLC27A4 | c.195G>C (p.Lys65Asn) c.231+1907G>C (n.231+1907G>C) | |
| 9 | g.128345188G>T | CA375029391 | SLC27A4 | c.195G>T (p.Lys65Asn) c.231+1907G>T (n.231+1907G>T) | |
| 9 | g.128345189G>A | CA375029395 | SLC27A4 | c.196G>A (p.Val66Met) c.231+1908G>A (n.231+1908G>A) | gnomAD v4 |
| 9 | g.128345189G>C | CA375029398 | SLC27A4 | c.196G>C (p.Val66Leu) c.231+1908G>C (n.231+1908G>C) | |
| 9 | g.128345189G= | CA1880238934 | SLC27A4 | c.196G= (p.Val66=) c.231+1908G= (n.231+1908G=) | |
| 9 | g.128345189G>T | CA375029397 | SLC27A4 | c.196G>T (p.Val66Leu) c.231+1908G>T (n.231+1908G>T) | dbSNP gnomAD v4 |
| 9 | g.128345190T>A | CA375029401 | SLC27A4 | c.197T>A (p.Val66Glu) c.231+1909T>A (n.231+1909T>A) | |
| 9 | g.128345190T>C | CA375029404 | SLC27A4 | c.197T>C (p.Val66Ala) c.231+1909T>C (n.231+1909T>C) | gnomAD v4 |
| 9 | g.128345190T>G | CA375029402 | SLC27A4 | c.197T>G (p.Val66Gly) c.231+1909T>G (n.231+1909T>G) | |
| 9 | g.128345191G>A | CA467482919 | SLC27A4 | c.198G>A (p.Val66=) c.231+1910G>A (n.231+1910G>A) | |
| 9 | g.128345191G>C | CA467482920 | SLC27A4 | c.198G>C (p.Val66=) c.231+1910G>C (n.231+1910G>C) | dbSNP |
| 9 | g.128345191G= | CA1880238937 | SLC27A4 | c.198G= (p.Val66=) c.231+1910G= (n.231+1910G=) | |
| 9 | g.128345191G>T | CA467482921 | SLC27A4 | c.198G>T (p.Val66=) c.231+1910G>T (n.231+1910G>T) | gnomAD v4 |
| 9 | g.128345192C>A | CA467482922 | SLC27A4 | c.199C>A (p.Arg67=) c.231+1911C>A (n.231+1911C>A) | |
| 9 | g.128345192C= | CA1880238940 | SLC27A4 | c.199C= (p.Arg67=) c.231+1911C= (n.231+1911C=) | |
| 9 | g.128345192C>G | CA375029405 | SLC27A4 | c.199C>G (p.Arg67Gly) c.231+1911C>G (n.231+1911C>G) | |
| 9 | g.128345192C>T | CA5260869 | SLC27A4 | c.199C>T (p.Arg67Ter) c.231+1911C>T (n.231+1911C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128345192_128345193insTCCTGAAGGTGAA | CA860244573 | SLC27A4 | c.199_200insTCCTGAAGGTGAA (p.Arg67LeufsTer?) c.231+1911_231+1912insTCCTGAAGGTGAA (n.231+1911_231+1912insTCCTGAAGGTGAA) | dbSNP |
| 9 | g.128345193G>A | CA5260870 | SLC27A4 | c.200G>A (p.Arg67Gln) c.231+1912G>A (n.231+1912G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128345193G>C | CA375029407 | SLC27A4 | c.200G>C (p.Arg67Pro) c.231+1912G>C (n.231+1912G>C) | |
| 9 | g.128345193G= | CA1880238944 | SLC27A4 | c.200G= (p.Arg67=) c.231+1912G= (n.231+1912G=) | |
| 9 | g.128345193G>T | CA375029409 | SLC27A4 | c.200G>T (p.Arg67Leu) c.231+1912G>T (n.231+1912G>T) | |
| 9 | g.128345194A>C | CA467482926 | SLC27A4 | c.201A>C (p.Arg67=) c.231+1913A>C (n.231+1913A>C) | |
| 9 | g.128345194A>G | CA467482927 | SLC27A4 | c.201A>G (p.Arg67=) c.231+1913A>G (n.231+1913A>G) | |
| 9 | g.128345194A>T | CA467482928 | SLC27A4 | c.201A>T (p.Arg67=) c.231+1913A>T (n.231+1913A>T) | |
| 9 | g.128345195C>A | CA375029411 | SLC27A4 | c.202C>A (p.Gln68Lys) c.231+1914C>A (n.231+1914C>A) | |
| 9 | g.128345195C>G | CA375029413 | SLC27A4 | c.202C>G (p.Gln68Glu) c.231+1914C>G (n.231+1914C>G) | |
| 9 | g.128345195C>T | CA375029415 | SLC27A4 | c.202C>T (p.Gln68Ter) c.231+1914C>T (n.231+1914C>T) | |
| 9 | g.128345196A>C | CA375029417 | SLC27A4 | c.203A>C (p.Gln68Pro) c.231+1915A>C (n.231+1915A>C) | |
| 9 | g.128345196A>G | CA375029418 | SLC27A4 | c.203A>G (p.Gln68Arg) c.231+1915A>G (n.231+1915A>G) | |
| 9 | g.128345196A>T | CA375029419 | SLC27A4 | c.203A>T (p.Gln68Leu) c.231+1915A>T (n.231+1915A>T) | |
| 9 | g.128345197G>A | CA5260871 | SLC27A4 | c.204G>A (p.Gln68=) c.231+1916G>A (n.231+1916G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128345197G>C | CA375029421 | SLC27A4 | c.204G>C (p.Gln68His) c.231+1916G>C (n.231+1916G>C) | |
| 9 | g.128345197G= | CA1880238947 | SLC27A4 | c.204G= (p.Gln68=) c.231+1916G= (n.231+1916G=) | |
| 9 | g.128345197G>T | CA375029423 | SLC27A4 | c.204G>T (p.Gln68His) c.231+1916G>T (n.231+1916G>T) | |
| 9 | g.128345198T>A | CA375029426 | SLC27A4 | c.205T>A (p.Cys69Ser) c.231+1917T>A (n.231+1917T>A) | |
| 9 | g.128345198T>C | CA375029430 | SLC27A4 | c.205T>C (p.Cys69Arg) c.231+1917T>C (n.231+1917T>C) | dbSNP gnomAD v2 |
| 9 | g.128345198T>G | CA375029428 | SLC27A4 | c.205T>G (p.Cys69Gly) c.231+1917T>G (n.231+1917T>G) | |
| 9 | g.128345198T= | CA1880238949 | SLC27A4 | c.205T= (p.Cys69=) c.231+1917T= (n.231+1917T=) | |
| 9 | g.128345198dup | CA2579467136 | SLC27A4 | c.205dup (p.Cys69LeufsTer?) c.231+1917dup (n.231+1917dup) | |
| 9 | g.128345199G>A | CA375029433 | SLC27A4 | c.206G>A (p.Cys69Tyr) c.231+1918G>A (n.231+1918G>A) | gnomAD v4 COSMIC |
| 9 | g.128345199G>C | CA375029435 | SLC27A4 | c.206G>C (p.Cys69Ser) c.231+1918G>C (n.231+1918G>C) | dbSNP |
| 9 | g.128345199G= | CA1880238954 | SLC27A4 | c.206G= (p.Cys69=) c.231+1918G= (n.231+1918G=) | |
| 9 | g.128345199G>T | CA375029439 | SLC27A4 | c.206G>T (p.Cys69Phe) c.231+1918G>T (n.231+1918G>T) | |
| 9 | g.128345200C>A | CA375029442 | SLC27A4 | c.207C>A (p.Cys69Ter) c.231+1919C>A (n.231+1919C>A) | |
| 9 | g.128345200C>G | CA375029444 | SLC27A4 | c.207C>G (p.Cys69Trp) c.231+1919C>G (n.231+1919C>G) | |
| 9 | g.128345200C>T | CA467482934 | SLC27A4 | c.207C>T (p.Cys69=) c.231+1919C>T (n.231+1919C>T) | |
| 9 | g.128345201C>A | CA375029447 | SLC27A4 | c.208C>A (p.Leu70Met) c.231+1920C>A (n.231+1920C>A) | |
| 9 | g.128345201C>G | CA375029449 | SLC27A4 | c.208C>G (p.Leu70Val) c.231+1920C>G (n.231+1920C>G) | |
| 9 | g.128345201C>T | CA467482935 | SLC27A4 | c.208C>T (p.Leu70=) c.231+1920C>T (n.231+1920C>T) | |
| 9 | g.128345202T>A | CA375029451 | SLC27A4 | c.209T>A (p.Leu70Gln) c.231+1921T>A (n.231+1921T>A) | |
| 9 | g.128345202T>C | CA375029454 | SLC27A4 | c.209T>C (p.Leu70Pro) c.231+1921T>C (n.231+1921T>C) | |
| 9 | g.128345202T>G | CA375029457 | SLC27A4 | c.209T>G (p.Leu70Arg) c.231+1921T>G (n.231+1921T>G) | |
| 9 | g.128345203G>A | CA467482938 | SLC27A4 | c.210G>A (p.Leu70=) c.231+1922G>A (n.231+1922G>A) | gnomAD v4 |
| 9 | g.128345203G>C | CA467482941 | SLC27A4 | c.210G>C (p.Leu70=) c.231+1922G>C (n.231+1922G>C) | |
| 9 | g.128345203G>T | CA467482940 | SLC27A4 | c.210G>T (p.Leu70=) c.231+1922G>T (n.231+1922G>T) | |
| 9 | g.128345204C>A | CA375029463 | SLC27A4 | c.211C>A (p.Gln71Lys) c.231+1923C>A (n.231+1923C>A) | |
| 9 | g.128345204C>G | CA375029465 | SLC27A4 | c.211C>G (p.Gln71Glu) c.231+1923C>G (n.231+1923C>G) | |
| 9 | g.128345204C>T | CA375029461 | SLC27A4 | c.211C>T (p.Gln71Ter) c.231+1923C>T (n.231+1923C>T) | |
| 9 | g.128345205A>C | CA375029467 | SLC27A4 | c.212A>C (p.Gln71Pro) c.231+1924A>C (n.231+1924A>C) | |
| 9 | g.128345205A>G | CA375029469 | SLC27A4 | c.212A>G (p.Gln71Arg) c.231+1924A>G (n.231+1924A>G) | dbSNP gnomAD v4 |
| 9 | g.128345205A>T | CA375029471 | SLC27A4 | c.212A>T (p.Gln71Leu) c.231+1924A>T (n.231+1924A>T) | |
| 9 | g.128345206G>A | CA467482942 | SLC27A4 | c.213G>A (p.Gln71=) c.231+1925G>A (n.231+1925G>A) | |
| 9 | g.128345206G>C | CA375029473 | SLC27A4 | c.213G>C (p.Gln71His) c.231+1925G>C (n.231+1925G>C) | |
| 9 | g.128345206G>T | CA375029475 | SLC27A4 | c.213G>T (p.Gln71His) c.231+1925G>T (n.231+1925G>T) | |
| 9 | g.128345207G>A | CA375029477 | SLC27A4 | c.214G>A (p.Glu72Lys) c.231+1926G>A (n.231+1926G>A) | |
| 9 | g.128345207G>C | CA375029479 | SLC27A4 | c.214G>C (p.Glu72Gln) c.231+1926G>C (n.231+1926G>C) | |
| 9 | g.128345207G>T | CA375029481 | SLC27A4 | c.214G>T (p.Glu72Ter) c.231+1926G>T (n.231+1926G>T) | |
| 9 | g.128345208A>C | CA375029484 | SLC27A4 | c.215A>C (p.Glu72Ala) c.231+1927A>C (n.231+1927A>C) | |
| 9 | g.128345208A>G | CA375029486 | SLC27A4 | c.215A>G (p.Glu72Gly) c.231+1927A>G (n.231+1927A>G) | |
| 9 | g.128345208A>T | CA375029488 | SLC27A4 | c.215A>T (p.Glu72Val) c.231+1927A>T (n.231+1927A>T) | |
| 9 | g.128345209G>A | CA5260872 | SLC27A4 | c.216G>A (p.Glu72=) c.231+1928G>A (n.231+1928G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128345209G>C | CA375029492 | SLC27A4 | c.216G>C (p.Glu72Asp) c.231+1928G>C (n.231+1928G>C) | |
| 9 | g.128345209G= | CA1880238958 | SLC27A4 | c.216G= (p.Glu72=) c.231+1928G= (n.231+1928G=) | |
| 9 | g.128345209G>T | CA375029495 | SLC27A4 | c.216G>T (p.Glu72Asp) c.231+1928G>T (n.231+1928G>T) | |
| 9 | g.128345210C>A | CA467482944 | SLC27A4 | c.217C>A (p.Arg73=) c.231+1929C>A (n.231+1929C>A) | gnomAD v4 |
| 9 | g.128345210C= | CA1880238964 | SLC27A4 | c.217C= (p.Arg73=) c.231+1929C= (n.231+1929C=) | |
| 9 | g.128345210C>G | CA375029497 | SLC27A4 | c.217C>G (p.Arg73Gly) c.231+1929C>G (n.231+1929C>G) | gnomAD v4 |
| 9 | g.128345210C>T | CA5260873 | SLC27A4 | c.217C>T (p.Arg73Trp) c.231+1929C>T (n.231+1929C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.128345211G>A | CA5260874 | SLC27A4 | c.218G>A (p.Arg73Gln) c.231+1930G>A (n.231+1930G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128345211G>C | CA375029501 | SLC27A4 | c.218G>C (p.Arg73Pro) c.231+1930G>C (n.231+1930G>C) | |
| 9 | g.128345211G= | CA1880238969 | SLC27A4 | c.218G= (p.Arg73=) c.231+1930G= (n.231+1930G=) | |
| 9 | g.128345211G>T | CA375029503 | SLC27A4 | c.218G>T (p.Arg73Leu) c.231+1930G>T (n.231+1930G>T) | |
| 9 | g.128345212G>A | CA5260875 | SLC27A4 | c.219G>A (p.Arg73=) c.231+1931G>A (n.231+1931G>A) | ClinVar dbSNP ExAC gnomAD v2 |
| 9 | g.128345212G>C | CA467482946 | SLC27A4 | c.219G>C (p.Arg73=) c.231+1931G>C (n.231+1931G>C) | |
| 9 | g.128345212G= | CA1880238973 | SLC27A4 | c.219G= (p.Arg73=) c.231+1931G= (n.231+1931G=) | |
| 9 | g.128345212G>T | CA467482947 | SLC27A4 | c.219G>T (p.Arg73=) c.231+1931G>T (n.231+1931G>T) | |
| 9 | g.128345213C>A | CA467482948 | SLC27A4 | c.220C>A (p.Arg74=) c.231+1932C>A (n.231+1932C>A) | |
| 9 | g.128345213C= | CA1880238976 | SLC27A4 | c.220C= (p.Arg74=) c.231+1932C= (n.231+1932C=) | |
| 9 | g.128345213C>G | CA375029504 | SLC27A4 | c.220C>G (p.Arg74Gly) c.231+1932C>G (n.231+1932C>G) | |
| 9 | g.128345213C>T | CA5260876 | SLC27A4 | c.220C>T (p.Arg74Trp) c.231+1932C>T (n.231+1932C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128345214G>A | CA375029506 | SLC27A4 | c.221G>A (p.Arg74Gln) c.231+1933G>A (n.231+1933G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128345214G>C | CA375029507 | SLC27A4 | c.221G>C (p.Arg74Pro) c.231+1933G>C (n.231+1933G>C) | |
| 9 | g.128345214G= | CA1880238979 | SLC27A4 | c.221G= (p.Arg74=) c.231+1933G= (n.231+1933G=) | |
| 9 | g.128345214G>T | CA375029509 | SLC27A4 | c.221G>T (p.Arg74Leu) c.231+1933G>T (n.231+1933G>T) | |
| 9 | g.128345215G>A | CA467482951 | SLC27A4 | c.222G>A (p.Arg74=) c.231+1934G>A (n.231+1934G>A) | dbSNP gnomAD v4 |
| 9 | g.128345215G>C | CA467482952 | SLC27A4 | c.222G>C (p.Arg74=) c.231+1934G>C (n.231+1934G>C) | |
| 9 | g.128345215G>T | CA467482953 | SLC27A4 | c.222G>T (p.Arg74=) c.231+1934G>T (n.231+1934G>T) | |
| 9 | g.128345216A>C | CA375029511 | SLC27A4 | c.223A>C (p.Thr75Pro) c.231+1935A>C (n.231+1935A>C) | |
| 9 | g.128345216A>G | CA375029513 | SLC27A4 | c.223A>G (p.Thr75Ala) c.231+1935A>G (n.231+1935A>G) | gnomAD v4 |
| 9 | g.128345216A>T | CA375029515 | SLC27A4 | c.223A>T (p.Thr75Ser) c.231+1935A>T (n.231+1935A>T) | |
| 9 | g.128345217C>A | CA375029520 | SLC27A4 | c.224C>A (p.Thr75Lys) c.231+1936C>A (n.231+1936C>A) | |
| 9 | g.128345217C>G | CA375029518 | SLC27A4 | c.224C>G (p.Thr75Arg) c.231+1936C>G (n.231+1936C>G) | |
| 9 | g.128345217C>T | CA375029516 | SLC27A4 | c.224C>T (p.Thr75Ile) c.231+1936C>T (n.231+1936C>T) | |
| 9 | g.128345218A= | CA1880238983 | SLC27A4 | c.225A= (p.Thr75=) c.231+1937A= (n.231+1937A=) | |
| 9 | g.128345218A>C | CA467482962 | SLC27A4 | c.225A>C (p.Thr75=) c.231+1937A>C (n.231+1937A>C) | |
| 9 | g.128345218A>G | CA5260877 | SLC27A4 | c.225A>G (p.Thr75=) c.231+1937A>G (n.231+1937A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128345218A>T | CA467482961 | SLC27A4 | c.225A>T (p.Thr75=) c.231+1937A>T (n.231+1937A>T) | |
| 9 | g.128345219G>A | CA375029533 | SLC27A4 | c.226G>A (p.Val76Met) c.231+1938G>A (n.231+1938G>A) | |
| 9 | g.128345219G>C | CA375029525 | SLC27A4 | c.226G>C (p.Val76Leu) c.231+1938G>C (n.231+1938G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.128345219G= | CA1880238986 | SLC27A4 | c.226G= (p.Val76=) c.231+1938G= (n.231+1938G=) | |
| 9 | g.128345219G>T | CA375029531 | SLC27A4 | c.226G>T (p.Val76Leu) c.231+1938G>T (n.231+1938G>T) | |
| 9 | g.128345220T>A | CA375029536 | SLC27A4 | c.227T>A (p.Val76Glu) c.231+1939T>A (n.231+1939T>A) | |
| 9 | g.128345220T>C | CA375029539 | SLC27A4 | c.227T>C (p.Val76Ala) c.231+1939T>C (n.231+1939T>C) | |
| 9 | g.128345220T>G | CA375029540 | SLC27A4 | c.227T>G (p.Val76Gly) c.231+1939T>G (n.231+1939T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.128345220T= | CA1880238988 | SLC27A4 | c.227T= (p.Val76=) c.231+1939T= (n.231+1939T=) | |
| 9 | g.128345221G>A | CA467482963 | SLC27A4 | c.228G>A (p.Val76=) c.231+1940G>A (n.231+1940G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.128345221G>C | CA467482964 | SLC27A4 | c.228G>C (p.Val76=) c.231+1940G>C (n.231+1940G>C) | |
| 9 | g.128345221G= | CA1880238992 | SLC27A4 | c.228G= (p.Val76=) c.231+1940G= (n.231+1940G=) | |
| 9 | g.128345221G>T | CA5260878 | SLC27A4 | c.228G>T (p.Val76=) c.231+1940G>T (n.231+1940G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128345222C>A | CA375029542 | SLC27A4 | c.229C>A (p.Pro77Thr) c.231+1941C>A (n.231+1941C>A) | |
| 9 | g.128345222C= | CA1880238995 | SLC27A4 | c.229C= (p.Pro77=) c.231+1941C= (n.231+1941C=) | |
| 9 | g.128345222C>G | CA375029546 | SLC27A4 | c.229C>G (p.Pro77Ala) c.231+1941C>G (n.231+1941C>G) | |
| 9 | g.128345222C>T | CA5260879 | SLC27A4 | c.229C>T (p.Pro77Ser) c.231+1941C>T (n.231+1941C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128345223C>A | CA375029549 | SLC27A4 | c.230C>A (p.Pro77His) c.231+1942C>A (n.231+1942C>A) | |
| 9 | g.128345223C>G | CA375029551 | SLC27A4 | c.230C>G (p.Pro77Arg) c.231+1942C>G (n.231+1942C>G) | |
| 9 | g.128345223C>T | CA375029555 | SLC27A4 | c.230C>T (p.Pro77Leu) c.231+1942C>T (n.231+1942C>T) | |
| 9 | g.128345224C>A | CA467482967 | SLC27A4 | c.231C>A (p.Pro77=) c.231+1943C>A (n.231+1943C>A) | |
| 9 | g.128345224C>G | CA467482969 | SLC27A4 | c.231C>G (p.Pro77=) c.231+1943C>G (n.231+1943C>G) | |
| 9 | g.128345224C>T | CA467482970 | SLC27A4 | c.231C>T (p.Pro77=) c.231+1943C>T (n.231+1943C>T) | |
| 9 | g.128345225A= | CA1880238999 | SLC27A4 | c.232A= (p.Ile78=) c.231+1944A= (n.231+1944A=) | |
| 9 | g.128345225A>C | CA375029561 | SLC27A4 | c.232A>C (p.Ile78Leu) c.231+1944A>C (n.231+1944A>C) | |
| 9 | g.128345225A>G | CA200350403 | SLC27A4 | c.232A>G (p.Ile78Val) c.231+1944A>G (n.231+1944A>G) | dbSNP gnomAD v4 |
| 9 | g.128345225A>T | CA375029558 | SLC27A4 | c.232A>T (p.Ile78Phe) c.231+1944A>T (n.231+1944A>T) | |
| 9 | g.128345226T>A | CA375029564 | SLC27A4 | c.233T>A (p.Ile78Asn) c.231+1945T>A (n.231+1945T>A) | |
| 9 | g.128345226T>C | CA200350418 | SLC27A4 | c.233T>C (p.Ile78Thr) c.231+1945T>C (n.231+1945T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.128345226T>G | CA375029568 | SLC27A4 | c.233T>G (p.Ile78Ser) c.231+1945T>G (n.231+1945T>G) | |
| 9 | g.128345226T= | CA1880239003 | SLC27A4 | c.233T= (p.Ile78=) c.231+1945T= (n.231+1945T=) | |
| 9 | g.128345227T>A | CA467482971 | SLC27A4 | c.234T>A (p.Ile78=) c.231+1946T>A (n.231+1946T>A) | |
| 9 | g.128345227T>C | CA200350423 | SLC27A4 | c.234T>C (p.Ile78=) c.231+1946T>C (n.231+1946T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.128345227T>G | CA375029573 | SLC27A4 | c.234T>G (p.Ile78Met) c.231+1946T>G (n.231+1946T>G) | |
| 9 | g.128345227T= | CA1880239006 | SLC27A4 | c.234T= (p.Ile78=) c.231+1946T= (n.231+1946T=) | |
| 9 | g.128345228T>A | CA375029576 | SLC27A4 | c.235T>A (p.Leu79Met) c.231+1947T>A (n.231+1947T>A) | |
| 9 | g.128345228T>C | CA467482972 | SLC27A4 | c.235T>C (p.Leu79=) c.231+1947T>C (n.231+1947T>C) | |
| 9 | g.128345228T>G | CA375029577 | SLC27A4 | c.235T>G (p.Leu79Val) c.231+1947T>G (n.231+1947T>G) | |
| 9 | g.128345229T>A | CA375029578 | SLC27A4 | c.236T>A (p.Leu79Ter) c.231+1948T>A (n.231+1948T>A) | COSMIC |
| 9 | g.128345229T>C | CA375029579 | SLC27A4 | c.236T>C (p.Leu79Ser) c.231+1948T>C (n.231+1948T>C) | |
| 9 | g.128345229T>G | CA375029580 | SLC27A4 | c.236T>G (p.Leu79Trp) c.231+1948T>G (n.231+1948T>G) | |
| 9 | g.128345230G>A | CA467482975 | SLC27A4 | c.237G>A (p.Leu79=) c.231+1949G>A (n.231+1949G>A) | |
| 9 | g.128345230G>C | CA200350433 | SLC27A4 | c.237G>C (p.Leu79Phe) c.231+1949G>C (n.231+1949G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128345230G= | CA1880239010 | SLC27A4 | c.237G= (p.Leu79=) c.231+1949G= (n.231+1949G=) | |
| 9 | g.128345230G>T | CA375029581 | SLC27A4 | c.237G>T (p.Leu79Phe) c.231+1949G>T (n.231+1949G>T) | |
| 9 | g.128345231T>A | CA375029584 | SLC27A4 | c.238T>A (p.Phe80Ile) c.231+1950T>A (n.231+1950T>A) | |
| 9 | g.128345231T>C | CA375029583 | SLC27A4 | c.238T>C (p.Phe80Leu) c.231+1950T>C (n.231+1950T>C) | |
| 9 | g.128345231T>G | CA375029582 | SLC27A4 | c.238T>G (p.Phe80Val) c.231+1950T>G (n.231+1950T>G) | |
| 9 | g.128345232T>A | CA375029585 | SLC27A4 | c.239T>A (p.Phe80Tyr) c.231+1951T>A (n.231+1951T>A) | |
| 9 | g.128345232T>C | CA375029586 | SLC27A4 | c.239T>C (p.Phe80Ser) c.231+1951T>C (n.231+1951T>C) | |
| 9 | g.128345232T>G | CA375029588 | SLC27A4 | c.239T>G (p.Phe80Cys) c.231+1951T>G (n.231+1951T>G) | |
| 9 | g.128345233T>A | CA375029590 | SLC27A4 | c.240T>A (p.Phe80Leu) c.231+1952T>A (n.231+1952T>A) | |
| 9 | g.128345233T>C | CA467482978 | SLC27A4 | c.240T>C (p.Phe80=) c.231+1952T>C (n.231+1952T>C) | ClinVar |
| 9 | g.128345233T>G | CA375029591 | SLC27A4 | c.240T>G (p.Phe80Leu) c.231+1952T>G (n.231+1952T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.128345233T= | CA1880239013 | SLC27A4 | c.240T= (p.Phe80=) c.231+1952T= (n.231+1952T=) | |
| 9 | g.128345234G>A | CA375029596 | SLC27A4 | c.241G>A (p.Ala81Thr) c.231+1953G>A (n.231+1953G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.128345234G>C | CA375029595 | SLC27A4 | c.241G>C (p.Ala81Pro) c.231+1953G>C (n.231+1953G>C) | |
| 9 | g.128345234G= | CA1880239018 | SLC27A4 | c.241G= (p.Ala81=) c.231+1953G= (n.231+1953G=) | |
| 9 | g.128345234G>T | CA375029593 | SLC27A4 | c.241G>T (p.Ala81Ser) c.231+1953G>T (n.231+1953G>T) | |
| 9 | g.128345235C>A | CA375029597 | SLC27A4 | c.242C>A (p.Ala81Asp) c.231+1954C>A (n.231+1954C>A) | |
| 9 | g.128345235C>G | CA375029598 | SLC27A4 | c.242C>G (p.Ala81Gly) c.231+1954C>G (n.231+1954C>G) | |
| 9 | g.128345235C>T | CA375029599 | SLC27A4 | c.242C>T (p.Ala81Val) c.231+1954C>T (n.231+1954C>T) | |
| 9 | g.128345236C>A | CA467482980 | SLC27A4 | c.243C>A (p.Ala81=) c.231+1955C>A (n.231+1955C>A) | |
| 9 | g.128345236C= | CA1880239021 | SLC27A4 | c.243C= (p.Ala81=) c.231+1955C= (n.231+1955C=) | |
| 9 | g.128345236C>G | CA467482982 | SLC27A4 | c.243C>G (p.Ala81=) c.231+1955C>G (n.231+1955C>G) | |
| 9 | g.128345236C>T | CA467482983 | SLC27A4 | c.243C>T (p.Ala81=) c.231+1955C>T (n.231+1955C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.128345237T>A | CA375029600 | SLC27A4 | c.244T>A (p.Ser82Thr) c.231+1956T>A (n.231+1956T>A) | |
| 9 | g.128345237T>C | CA375029601 | SLC27A4 | c.244T>C (p.Ser82Pro) c.231+1956T>C (n.231+1956T>C) | |
| 9 | g.128345237T>G | CA375029604 | SLC27A4 | c.244T>G (p.Ser82Ala) c.231+1956T>G (n.231+1956T>G) | |
| 9 | g.128345238C>A | CA375029610 | SLC27A4 | c.245C>A (p.Ser82Tyr) c.231+1957C>A (n.231+1957C>A) | |
| 9 | g.128345238C>G | CA375029615 | SLC27A4 | c.245C>G (p.Ser82Cys) c.231+1957C>G (n.231+1957C>G) | |
| 9 | g.128345238C>T | CA375029612 | SLC27A4 | c.245C>T (p.Ser82Phe) c.231+1957C>T (n.231+1957C>T) | gnomAD v4 |
| 9 | g.128345239T>A | CA467482987 | SLC27A4 | c.246T>A (p.Ser82=) c.231+1958T>A (n.231+1958T>A) | |
| 9 | g.128345239T>C | CA467482986 | SLC27A4 | c.246T>C (p.Ser82=) c.231+1958T>C (n.231+1958T>C) | |
| 9 | g.128345239T>G | CA467482985 | SLC27A4 | c.246T>G (p.Ser82=) c.231+1958T>G (n.231+1958T>G) | |
| 9 | g.128345240A= | CA1880239024 | SLC27A4 | c.247A= (p.Thr83=) c.231+1959A= (n.231+1959A=) | |
| 9 | g.128345240A>C | CA375029618 | SLC27A4 | c.247A>C (p.Thr83Pro) c.231+1959A>C (n.231+1959A>C) | dbSNP |
| 9 | g.128345240A>G | CA375029620 | SLC27A4 | c.247A>G (p.Thr83Ala) c.231+1959A>G (n.231+1959A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.128345240A>T | CA375029622 | SLC27A4 | c.247A>T (p.Thr83Ser) c.231+1959A>T (n.231+1959A>T) | |
| 9 | g.128345241C>A | CA375029624 | SLC27A4 | c.248C>A (p.Thr83Asn) c.231+1960C>A (n.231+1960C>A) | |
| 9 | g.128345241C= | CA1880239028 | SLC27A4 | c.248C= (p.Thr83=) c.231+1960C= (n.231+1960C=) | |
| 9 | g.128345241C>G | CA375029626 | SLC27A4 | c.248C>G (p.Thr83Ser) c.231+1960C>G (n.231+1960C>G) | |
| 9 | g.128345241C>T | CA375029631 | SLC27A4 | c.248C>T (p.Thr83Ile) c.231+1960C>T (n.231+1960C>T) | dbSNP gnomAD v4 |
| 9 | g.128345242C>A | CA467482989 | SLC27A4 | c.249C>A (p.Thr83=) c.231+1961C>A (n.231+1961C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128345242C= | CA1880239031 | SLC27A4 | c.249C= (p.Thr83=) c.231+1961C= (n.231+1961C=) | |
| 9 | g.128345242C>G | CA5260880 | SLC27A4 | c.249C>G (p.Thr83=) c.231+1961C>G (n.231+1961C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128345242C>T | CA5260881 | SLC27A4 | c.249C>T (p.Thr83=) c.231+1961C>T (n.231+1961C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.128345243G>A | CA235570 | SLC27A4 | c.250G>A (p.Val84Ile) c.231+1962G>A (n.231+1962G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128345243G>C | CA375029638 | SLC27A4 | c.250G>C (p.Val84Leu) c.231+1962G>C (n.231+1962G>C) | dbSNP |
| 9 | g.128345243G= | CA1880239037 | SLC27A4 | c.250G= (p.Val84=) c.231+1962G= (n.231+1962G=) | |
| 9 | g.128345243G>T | CA375029641 | SLC27A4 | c.250G>T (p.Val84Phe) c.231+1962G>T (n.231+1962G>T) | gnomAD v4 |
| 9 | g.128345244T>A | CA375029648 | SLC27A4 | c.251T>A (p.Val84Asp) c.231+1963T>A (n.231+1963T>A) | |
| 9 | g.128345244T>C | CA375029644 | SLC27A4 | c.251T>C (p.Val84Ala) c.231+1963T>C (n.231+1963T>C) | |
| 9 | g.128345244T>G | CA375029645 | SLC27A4 | c.251T>G (p.Val84Gly) c.231+1963T>G (n.231+1963T>G) | |
| 9 | g.128345245T>A | CA467482994 | SLC27A4 | c.252T>A (p.Val84=) c.231+1964T>A (n.231+1964T>A) | |
| 9 | g.128345245T>C | CA467482997 | SLC27A4 | c.252T>C (p.Val84=) c.231+1964T>C (n.231+1964T>C) | |
| 9 | g.128345245T>G | CA467482996 | SLC27A4 | c.252T>G (p.Val84=) c.231+1964T>G (n.231+1964T>G) | |
| 9 | g.128345246C>A | CA467482998 | SLC27A4 | c.253C>A (p.Arg85=) c.231+1965C>A (n.231+1965C>A) | |
| 9 | g.128345246C= | CA1880239043 | SLC27A4 | c.253C= (p.Arg85=) c.231+1965C= (n.231+1965C=) | |
| 9 | g.128345246C>G | CA375029651 | SLC27A4 | c.253C>G (p.Arg85Gly) c.231+1965C>G (n.231+1965C>G) | |
| 9 | g.128345246C>T | CA5260882 | SLC27A4 | c.253C>T (p.Arg85Trp) c.231+1965C>T (n.231+1965C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128345247G>A | CA5260883 | SLC27A4 | c.254G>A (p.Arg85Gln) c.231+1966G>A (n.231+1966G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128345247G>C | CA375029658 | SLC27A4 | c.254G>C (p.Arg85Pro) c.231+1966G>C (n.231+1966G>C) | gnomAD v4 |
| 9 | g.128345247G= | CA1880239046 | SLC27A4 | c.254G= (p.Arg85=) c.231+1966G= (n.231+1966G=) | |
| 9 | g.128345247G>T | CA375029655 | SLC27A4 | c.254G>T (p.Arg85Leu) c.231+1966G>T (n.231+1966G>T) | |
| 9 | g.128345248G>A | CA467482999 | SLC27A4 | c.255G>A (p.Arg85=) c.231+1967G>A (n.231+1967G>A) | |
| 9 | g.128345248G>C | CA467483001 | SLC27A4 | c.255G>C (p.Arg85=) c.231+1967G>C (n.231+1967G>C) | |
| 9 | g.128345248G= | CA1880239048 | SLC27A4 | c.255G= (p.Arg85=) c.231+1967G= (n.231+1967G=) | |
| 9 | g.128345248G>T | CA5260884 | SLC27A4 | c.255G>T (p.Arg85=) c.231+1967G>T (n.231+1967G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128345249C>A | CA375029664 | SLC27A4 | c.256C>A (p.Arg86Ser) c.231+1968C>A (n.231+1968C>A) | |
| 9 | g.128345249C= | CA1880239051 | SLC27A4 | c.256C= (p.Arg86=) c.231+1968C= (n.231+1968C=) | |
| 9 | g.128345249C>G | CA375029661 | SLC27A4 | c.256C>G (p.Arg86Gly) c.231+1968C>G (n.231+1968C>G) | |
| 9 | g.128345249C>T | CA5260885 | SLC27A4 | c.256C>T (p.Arg86Cys) c.231+1968C>T (n.231+1968C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.128345250G>A | CA5260886 | SLC27A4 | c.257G>A (p.Arg86His) c.231+1969G>A (n.231+1969G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128345250G>C | CA375029666 | SLC27A4 | c.257G>C (p.Arg86Pro) c.231+1969G>C (n.231+1969G>C) | |
| 9 | g.128345250G= | CA1880239054 | SLC27A4 | c.257G= (p.Arg86=) c.231+1969G= (n.231+1969G=) | |
| 9 | g.128345250G>T | CA375029669 | SLC27A4 | c.257G>T (p.Arg86Leu) c.231+1969G>T (n.231+1969G>T) | |
| 9 | g.128345251C>A | CA467483004 | SLC27A4 | c.258C>A (p.Arg86=) c.231+1970C>A (n.231+1970C>A) | |
| 9 | g.128345251C>G | CA467483006 | SLC27A4 | c.258C>G (p.Arg86=) c.231+1970C>G (n.231+1970C>G) | |
| 9 | g.128345251C>T | CA467483007 | SLC27A4 | c.258C>T (p.Arg86=) c.231+1970C>T (n.231+1970C>T) | |
| 9 | g.128345252C>A | CA375029671 | SLC27A4 | c.259C>A (p.His87Asn) c.231+1971C>A (n.231+1971C>A) | |
| 9 | g.128345252C>G | CA375029673 | SLC27A4 | c.259C>G (p.His87Asp) c.231+1971C>G (n.231+1971C>G) | |
| 9 | g.128345252C>T | CA375029676 | SLC27A4 | c.259C>T (p.His87Tyr) c.231+1971C>T (n.231+1971C>T) | |
| 9 | g.128345253A= | CA1880239059 | SLC27A4 | c.260A= (p.His87=) c.231+1972A= (n.231+1972A=) | |
| 9 | g.128345253A>C | CA5260887 | SLC27A4 | c.260A>C (p.His87Pro) c.231+1972A>C (n.231+1972A>C) | dbSNP ExAC gnomAD v4 |
| 9 | g.128345253A>G | CA5260888 | SLC27A4 | c.260A>G (p.His87Arg) c.231+1972A>G (n.231+1972A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128345253A>T | CA375029683 | SLC27A4 | c.260A>T (p.His87Leu) c.231+1972A>T (n.231+1972A>T) | |
| 9 | g.128345254C>A | CA5260889 | SLC27A4 | c.261C>A (p.His87Gln) c.231+1973C>A (n.231+1973C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128345254C= | CA1880239068 | SLC27A4 | c.261C= (p.His87=) c.231+1973C= (n.231+1973C=) | |
| 9 | g.128345254C>G | CA375029685 | SLC27A4 | c.261C>G (p.His87Gln) c.231+1973C>G (n.231+1973C>G) | |
| 9 | g.128345254C>T | CA467483008 | SLC27A4 | c.261C>T (p.His87=) c.231+1973C>T (n.231+1973C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128345255C>A | CA375029687 | SLC27A4 | c.262C>A (p.Pro88Thr) c.231+1974C>A (n.231+1974C>A) | |
| 9 | g.128345255C>G | CA375029692 | SLC27A4 | c.262C>G (p.Pro88Ala) c.231+1974C>G (n.231+1974C>G) | |
| 9 | g.128345255C>T | CA375029690 | SLC27A4 | c.262C>T (p.Pro88Ser) c.231+1974C>T (n.231+1974C>T) | |
| 9 | g.128345256C>A | CA375029695 | SLC27A4 | c.263C>A (p.Pro88His) c.231+1975C>A (n.231+1975C>A) | |
| 9 | g.128345256C>G | CA375029697 | SLC27A4 | c.263C>G (p.Pro88Arg) c.231+1975C>G (n.231+1975C>G) | |
| 9 | g.128345256C>T | CA375029703 | SLC27A4 | c.263C>T (p.Pro88Leu) c.231+1975C>T (n.231+1975C>T) | |
| 9 | g.128345256_128345259delinsCCGA | CA1880239073 | SLC27A4 | c.263_266delinsCCGA (p.Pro88=) c.231+1975_231+1978delinsCCGA (n.231+1975_231+1978delinsCCGA) | |
| 9 | g.128345257C>A | CA467483009 | SLC27A4 | c.264C>A (p.Pro88=) c.231+1976C>A (n.231+1976C>A) | |
| 9 | g.128345257C= | CA1880239076 | SLC27A4 | c.264C= (p.Pro88=) c.231+1976C= (n.231+1976C=) | |
| 9 | g.128345257C>G | CA467483010 | SLC27A4 | c.264C>G (p.Pro88=) c.231+1976C>G (n.231+1976C>G) | |
| 9 | g.128345257C>T | CA5260890 | SLC27A4 | c.264C>T (p.Pro88=) c.231+1976C>T (n.231+1976C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128345258_128345260del | CA1880239075 | SLC27A4 | c.265_267del (p.Asp89del) c.231+1977_231+1979del (n.231+1977_231+1979del) | dbSNP |
| 9 | g.128345258G>A | CA5260891 | SLC27A4 | c.265G>A (p.Asp89Asn) c.231+1977G>A (n.231+1977G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128345258G>C | CA375029715 | SLC27A4 | c.265G>C (p.Asp89His) c.231+1977G>C (n.231+1977G>C) | dbSNP gnomAD v2 |
| 9 | g.128345258G= | CA1880239081 | SLC27A4 | c.265G= (p.Asp89=) c.231+1977G= (n.231+1977G=) | |
| 9 | g.128345258G>T | CA375029716 | SLC27A4 | c.265G>T (p.Asp89Tyr) c.231+1977G>T (n.231+1977G>T) | |
| 9 | g.128345259A>C | CA375029718 | SLC27A4 | c.266A>C (p.Asp89Ala) c.231+1978A>C (n.231+1978A>C) | |
| 9 | g.128345259A>G | CA375029720 | SLC27A4 | c.266A>G (p.Asp89Gly) c.231+1978A>G (n.231+1978A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.128345259A>T | CA375029723 | SLC27A4 | c.266A>T (p.Asp89Val) c.231+1978A>T (n.231+1978A>T) | |
| 9 | g.128345260C>A | CA375029729 | SLC27A4 | c.267C>A (p.Asp89Glu) c.231+1979C>A (n.231+1979C>A) | |
| 9 | g.128345260C>G | CA375029726 | SLC27A4 | c.267C>G (p.Asp89Glu) c.231+1979C>G (n.231+1979C>G) | |
| 9 | g.128345260C>T | CA467483012 | SLC27A4 | c.267C>T (p.Asp89=) c.231+1979C>T (n.231+1979C>T) | |
| 9 | g.128345261A>C | CA375029731 | SLC27A4 | c.268A>C (p.Lys90Gln) c.231+1980A>C (n.231+1980A>C) | |
| 9 | g.128345261A>G | CA375029732 | SLC27A4 | c.268A>G (p.Lys90Glu) c.231+1980A>G (n.231+1980A>G) | |
| 9 | g.128345261A>T | CA375029734 | SLC27A4 | c.268A>T (p.Lys90Ter) c.231+1980A>T (n.231+1980A>T) | |
| 9 | g.128345262A= | CA1880239086 | SLC27A4 | c.269A= (p.Lys90=) c.231+1981A= (n.231+1981A=) | |
| 9 | g.128345262A>C | CA375029741 | SLC27A4 | c.269A>C (p.Lys90Thr) c.231+1981A>C (n.231+1981A>C) | |
| 9 | g.128345262A>G | CA200350494 | SLC27A4 | c.269A>G (p.Lys90Arg) c.231+1981A>G (n.231+1981A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128345262A>T | CA375029745 | SLC27A4 | c.269A>T (p.Lys90Met) c.231+1981A>T (n.231+1981A>T) | |
| 9 | g.128345263G>A | CA467483013 | SLC27A4 | c.270G>A (p.Lys90=) c.231+1982G>A (n.231+1982G>A) | |
| 9 | g.128345263G>C | CA375029749 | SLC27A4 | c.270G>C (p.Lys90Asn) c.231+1982G>C (n.231+1982G>C) | |
| 9 | g.128345263G>T | CA375029750 | SLC27A4 | c.270G>T (p.Lys90Asn) c.231+1982G>T (n.231+1982G>T) | |
| 9 | g.128345264A>C | CA375029752 | SLC27A4 | c.271A>C (p.Thr91Pro) c.231+1983A>C (n.231+1983A>C) | |
| 9 | g.128345264A>G | CA375029753 | SLC27A4 | c.271A>G (p.Thr91Ala) c.231+1983A>G (n.231+1983A>G) | |
| 9 | g.128345264A>T | CA375029754 | SLC27A4 | c.271A>T (p.Thr91Ser) c.231+1983A>T (n.231+1983A>T) | |
| 9 | g.128345265C>A | CA375029755 | SLC27A4 | c.272C>A (p.Thr91Lys) c.231+1984C>A (n.231+1984C>A) | |
| 9 | g.128345265C= | CA1880239089 | SLC27A4 | c.272C= (p.Thr91=) c.231+1984C= (n.231+1984C=) | |
| 9 | g.128345265C>G | CA375029756 | SLC27A4 | c.272C>G (p.Thr91Arg) c.231+1984C>G (n.231+1984C>G) | |
| 9 | g.128345265C>T | CA5260892 | SLC27A4 | c.272C>T (p.Thr91Met) c.231+1984C>T (n.231+1984C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128345266G>A | CA5260893 | SLC27A4 | c.273G>A (p.Thr91=) c.231+1985G>A (n.231+1985G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128345266G>C | CA467483017 | SLC27A4 | c.273G>C (p.Thr91=) c.231+1985G>C (n.231+1985G>C) | |
| 9 | g.128345266G= | CA1880239094 | SLC27A4 | c.273G= (p.Thr91=) c.231+1985G= (n.231+1985G=) | |
| 9 | g.128345266G>T | CA467483016 | SLC27A4 | c.273G>T (p.Thr91=) c.231+1985G>T (n.231+1985G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.128345267G>A | CA117714 | SLC27A4 | c.274G>A (p.Ala92Thr) c.231+1986G>A (n.231+1986G>A) | ClinVar dbSNP |
| 9 | g.128345267G>C | CA375029764 | SLC27A4 | c.274G>C (p.Ala92Pro) c.231+1986G>C (n.231+1986G>C) | |
| 9 | g.128345267G= | CA1880239098 | SLC27A4 | c.274G= (p.Ala92=) c.231+1986G= (n.231+1986G=) | |
| 9 | g.128345267G>T | CA375029767 | SLC27A4 | c.274G>T (p.Ala92Ser) c.231+1986G>T (n.231+1986G>T) | |
| 9 | g.128345268C>A | CA375029770 | SLC27A4 | c.275C>A (p.Ala92Asp) c.231+1987C>A (n.231+1987C>A) | |
| 9 | g.128345268C>G | CA375029780 | SLC27A4 | c.275C>G (p.Ala92Gly) c.231+1987C>G (n.231+1987C>G) | |
| 9 | g.128345268C>T | CA375029783 | SLC27A4 | c.275C>T (p.Ala92Val) c.231+1987C>T (n.231+1987C>T) |