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 |
|---|---|---|---|---|---|
| 14 | g.100882920C>A | CA266904939 | RTL1 | c.1869G>T (p.Met623Ile) | dbSNP |
| 14 | g.100882920C= | CA2159074665 | RTL1 | c.1869G= (p.Met623=) | |
| 14 | g.100882920C>G | CA390995227 | RTL1 | c.1869G>C (p.Met623Ile) | |
| 14 | g.100882920C>T | CA390995228 | RTL1 | c.1869G>A (p.Met623Ile) | gnomAD v4 |
| 14 | g.100882921A>C | CA390995229 | RTL1 | c.1868T>G (p.Met623Arg) | |
| 14 | g.100882921A>G | CA390995230 | RTL1 | c.1868T>C (p.Met623Thr) | |
| 14 | g.100882921A>T | CA390995231 | RTL1 | c.1868T>A (p.Met623Lys) | |
| 14 | g.100882922T>A | CA390995232 | RTL1 | c.1867A>T (p.Met623Leu) | |
| 14 | g.100882922T>C | CA390995234 | RTL1 | c.1867A>G (p.Met623Val) | |
| 14 | g.100882922T>G | CA390995233 | RTL1 | c.1867A>C (p.Met623Leu) | |
| 14 | g.100882923C>A | CA390995235 | RTL1 | c.1866G>T (p.Arg622Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100882923C= | CA2159074668 | RTL1 | c.1866G= (p.Arg622=) | |
| 14 | g.100882923C>G | CA390995236 | RTL1 | c.1866G>C (p.Arg622Ser) | |
| 14 | g.100882923C>T | CA7347256 | RTL1 | c.1866G>A (p.Arg622=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.100882924C>A | CA390995237 | RTL1 | c.1865G>T (p.Arg622Met) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100882924C= | CA2159074672 | RTL1 | c.1865G= (p.Arg622=) | |
| 14 | g.100882924C>G | CA390995238 | RTL1 | c.1865G>C (p.Arg622Thr) | |
| 14 | g.100882924C>T | CA390995239 | RTL1 | c.1865G>A (p.Arg622Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100882925T>A | CA390995240 | RTL1 | c.1864A>T (p.Arg622Trp) | |
| 14 | g.100882925T>C | CA390995241 | RTL1 | c.1864A>G (p.Arg622Gly) | dbSNP |
| 14 | g.100882925T>G | CA488181069 | RTL1 | c.1864A>C (p.Arg622=) | |
| 14 | g.100882926G>A | CA488181073 | RTL1 | c.1863C>T (p.Ala621=) | |
| 14 | g.100882926G>C | CA488181074 | RTL1 | c.1863C>G (p.Ala621=) | |
| 14 | g.100882926G>T | CA488181075 | RTL1 | c.1863C>A (p.Ala621=) | |
| 14 | g.100882927G>A | CA390995242 | RTL1 | c.1862C>T (p.Ala621Val) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100882927G>C | CA390995243 | RTL1 | c.1862C>G (p.Ala621Gly) | |
| 14 | g.100882927G= | CA2159074676 | RTL1 | c.1862C= (p.Ala621=) | |
| 14 | g.100882927G>T | CA390995244 | RTL1 | c.1862C>A (p.Ala621Asp) | COSMIC |
| 14 | g.100882928C>A | CA390995247 | RTL1 | c.1861G>T (p.Ala621Ser) | |
| 14 | g.100882928C>G | CA390995246 | RTL1 | c.1861G>C (p.Ala621Pro) | |
| 14 | g.100882928C>T | CA390995245 | RTL1 | c.1861G>A (p.Ala621Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100882929A= | CA2159074680 | RTL1 | c.1860T= (p.Gly620=) | |
| 14 | g.100882929A>C | CA488181086 | RTL1 | c.1860T>G (p.Gly620=) | |
| 14 | g.100882929A>G | CA488181090 | RTL1 | c.1860T>C (p.Gly620=) | |
| 14 | g.100882929A>T | CA7347257 | RTL1 | c.1860T>A (p.Gly620=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100882930C>A | CA390995248 | RTL1 | c.1859G>T (p.Gly620Val) | |
| 14 | g.100882930C>G | CA390995249 | RTL1 | c.1859G>C (p.Gly620Ala) | |
| 14 | g.100882930C>T | CA390995250 | RTL1 | c.1859G>A (p.Gly620Asp) | |
| 14 | g.100882931C>A | CA390995251 | RTL1 | c.1858G>T (p.Gly620Cys) | |
| 14 | g.100882931C>G | CA390995252 | RTL1 | c.1858G>C (p.Gly620Arg) | |
| 14 | g.100882931C>T | CA390995253 | RTL1 | c.1858G>A (p.Gly620Ser) | |
| 14 | g.100882932C>A | CA488181101 | RTL1 | c.1857G>T (p.Val619=) | |
| 14 | g.100882932C>G | CA488181102 | RTL1 | c.1857G>C (p.Val619=) | |
| 14 | g.100882932C>T | CA488181103 | RTL1 | c.1857G>A (p.Val619=) | |
| 14 | g.100882933A>C | CA390995254 | RTL1 | c.1856T>G (p.Val619Gly) | |
| 14 | g.100882933A>G | CA390995255 | RTL1 | c.1856T>C (p.Val619Ala) | |
| 14 | g.100882933A>T | CA390995256 | RTL1 | c.1856T>A (p.Val619Glu) | |
| 14 | g.100882934C>A | CA390995257 | RTL1 | c.1855G>T (p.Val619Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100882934C= | CA2159074682 | RTL1 | c.1855G= (p.Val619=) | |
| 14 | g.100882934C>G | CA390995258 | RTL1 | c.1855G>C (p.Val619Leu) | |
| 14 | g.100882934C>T | CA7347258 | RTL1 | c.1855G>A (p.Val619Met) | dbSNP ExAC gnomAD v4 |
| 14 | g.100882935A>C | CA488181123 | RTL1 | c.1854T>G (p.Pro618=) | |
| 14 | g.100882935A>G | CA488181118 | RTL1 | c.1854T>C (p.Pro618=) | gnomAD v4 |
| 14 | g.100882935A>T | CA488181116 | RTL1 | c.1854T>A (p.Pro618=) | |
| 14 | g.100882936G>A | CA390995260 | RTL1 | c.1853C>T (p.Pro618Leu) | |
| 14 | g.100882936G>C | CA390995261 | RTL1 | c.1853C>G (p.Pro618Arg) | |
| 14 | g.100882936G>T | CA390995259 | RTL1 | c.1853C>A (p.Pro618His) | |
| 14 | g.100882937G>A | CA390995262 | RTL1 | c.1852C>T (p.Pro618Ser) | gnomAD v4 COSMIC |
| 14 | g.100882937G>C | CA390995264 | RTL1 | c.1852C>G (p.Pro618Ala) | |
| 14 | g.100882937G>T | CA390995263 | RTL1 | c.1852C>A (p.Pro618Thr) | |
| 14 | g.100882938T>A | CA390995265 | RTL1 | c.1851A>T (p.Glu617Asp) | |
| 14 | g.100882938T>C | CA488181131 | RTL1 | c.1851A>G (p.Glu617=) | |
| 14 | g.100882938T>G | CA390995266 | RTL1 | c.1851A>C (p.Glu617Asp) | |
| 14 | g.100882939T>A | CA390995267 | RTL1 | c.1850A>T (p.Glu617Val) | |
| 14 | g.100882939T>C | CA390995269 | RTL1 | c.1850A>G (p.Glu617Gly) | |
| 14 | g.100882939T>G | CA390995268 | RTL1 | c.1850A>C (p.Glu617Ala) | |
| 14 | g.100882940C>A | CA390995270 | RTL1 | c.1849G>T (p.Glu617Ter) | |
| 14 | g.100882940C= | CA2159074685 | RTL1 | c.1849G= (p.Glu617=) | |
| 14 | g.100882940C>G | CA390995271 | RTL1 | c.1849G>C (p.Glu617Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100882940C>T | CA390995272 | RTL1 | c.1849G>A (p.Glu617Lys) | dbSNP gnomAD v4 |
| 14 | g.100882941C>A | CA390995273 | RTL1 | c.1848G>T (p.Trp616Cys) | |
| 14 | g.100882941C>G | CA390995274 | RTL1 | c.1848G>C (p.Trp616Cys) | |
| 14 | g.100882941C>T | CA390995275 | RTL1 | c.1848G>A (p.Trp616Ter) | |
| 14 | g.100882942C>A | CA390995276 | RTL1 | c.1847G>T (p.Trp616Leu) | |
| 14 | g.100882942C= | CA2159074688 | RTL1 | c.1847G= (p.Trp616=) | |
| 14 | g.100882942C>G | CA390995277 | RTL1 | c.1847G>C (p.Trp616Ser) | |
| 14 | g.100882942C>T | CA390995278 | RTL1 | c.1847G>A (p.Trp616Ter) | dbSNP gnomAD v4 |
| 14 | g.100882943A>C | CA390995279 | RTL1 | c.1846T>G (p.Trp616Gly) | |
| 14 | g.100882943A>G | CA390995280 | RTL1 | c.1846T>C (p.Trp616Arg) | |
| 14 | g.100882943A>T | CA390995281 | RTL1 | c.1846T>A (p.Trp616Arg) | |
| 14 | g.100882944A>C | CA488181150 | RTL1 | c.1845T>G (p.Pro615=) | |
| 14 | g.100882944A>G | CA488181151 | RTL1 | c.1845T>C (p.Pro615=) | |
| 14 | g.100882944A>T | CA488181152 | RTL1 | c.1845T>A (p.Pro615=) | |
| 14 | g.100882945G>A | CA7347259 | RTL1 | c.1844C>T (p.Pro615Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.100882945G>C | CA390995283 | RTL1 | c.1844C>G (p.Pro615Arg) | |
| 14 | g.100882945G= | CA2159074692 | RTL1 | c.1844C= (p.Pro615=) | |
| 14 | g.100882945G>T | CA390995282 | RTL1 | c.1844C>A (p.Pro615His) | |
| 14 | g.100882946G>A | CA390995284 | RTL1 | c.1843C>T (p.Pro615Ser) | gnomAD v4 |
| 14 | g.100882946G>C | CA390995285 | RTL1 | c.1843C>G (p.Pro615Ala) | |
| 14 | g.100882946G>T | CA390995286 | RTL1 | c.1843C>A (p.Pro615Thr) | gnomAD v4 |
| 14 | g.100882947C>A | CA488181161 | RTL1 | c.1842G>T (p.Ala614=) | dbSNP gnomAD v4 |
| 14 | g.100882947C= | CA2159074696 | RTL1 | c.1842G= (p.Ala614=) | |
| 14 | g.100882947C>G | CA488181162 | RTL1 | c.1842G>C (p.Ala614=) | |
| 14 | g.100882947C>T | CA7347260 | RTL1 | c.1842G>A (p.Ala614=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100882948G>A | CA7347261 | RTL1 | c.1841C>T (p.Ala614Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100882948G>C | CA390995287 | RTL1 | c.1841C>G (p.Ala614Gly) | |
| 14 | g.100882948G= | CA2159074698 | RTL1 | c.1841C= (p.Ala614=) | |
| 14 | g.100882948G>T | CA390995288 | RTL1 | c.1841C>A (p.Ala614Glu) | |
| 14 | g.100882949C>A | CA266905001 | RTL1 | c.1840G>T (p.Ala614Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100882949C= | CA2159074704 | RTL1 | c.1840G= (p.Ala614=) | |
| 14 | g.100882949C>G | CA390995289 | RTL1 | c.1840G>C (p.Ala614Pro) | |
| 14 | g.100882949C>T | CA7347262 | RTL1 | c.1840G>A (p.Ala614Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.100882950G>A | CA266905018 | RTL1 | c.1839C>T (p.Thr613=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100882950G>C | CA488181169 | RTL1 | c.1839C>G (p.Thr613=) | gnomAD v4 |
| 14 | g.100882950G= | CA2159074709 | RTL1 | c.1839C= (p.Thr613=) | |
| 14 | g.100882950G>T | CA488181170 | RTL1 | c.1839C>A (p.Thr613=) | |
| 14 | g.100882951G>A | CA390995292 | RTL1 | c.1838C>T (p.Thr613Ile) | gnomAD v4 |
| 14 | g.100882951G>C | CA390995290 | RTL1 | c.1838C>G (p.Thr613Ser) | |
| 14 | g.100882951G>T | CA390995291 | RTL1 | c.1838C>A (p.Thr613Asn) | |
| 14 | g.100882952T>A | CA390995293 | RTL1 | c.1837A>T (p.Thr613Ser) | |
| 14 | g.100882952T>C | CA390995294 | RTL1 | c.1837A>G (p.Thr613Ala) | gnomAD v4 |
| 14 | g.100882952T>G | CA390995295 | RTL1 | c.1837A>C (p.Thr613Pro) | |
| 14 | g.100882953G>A | CA488181180 | RTL1 | c.1836C>T (p.Ser612=) | gnomAD v4 |
| 14 | g.100882953G>C | CA488181181 | RTL1 | c.1836C>G (p.Ser612=) | |
| 14 | g.100882953G>T | CA488181182 | RTL1 | c.1836C>A (p.Ser612=) | |
| 14 | g.100882956_100882959del | CA2626553039 | RTL1 | c.1833_1836del (p.Ser612ProfsTer28) | gnomAD v4 |
| 14 | g.100882954G>A | CA390995296 | RTL1 | c.1835C>T (p.Ser612Phe) | COSMIC |
| 14 | g.100882954G>C | CA390995297 | RTL1 | c.1835C>G (p.Ser612Cys) | |
| 14 | g.100882954G>T | CA390995298 | RTL1 | c.1835C>A (p.Ser612Tyr) | |
| 14 | g.100882955A>C | CA390995299 | RTL1 | c.1834T>G (p.Ser612Ala) | |
| 14 | g.100882955A>G | CA390995300 | RTL1 | c.1834T>C (p.Ser612Pro) | |
| 14 | g.100882955A>T | CA390995301 | RTL1 | c.1834T>A (p.Ser612Thr) | |
| 14 | g.100882956G>A | CA488181191 | RTL1 | c.1833C>T (p.Pro611=) | COSMIC |
| 14 | g.100882956G>C | CA488181194 | RTL1 | c.1833C>G (p.Pro611=) | |
| 14 | g.100882956G>T | CA488181197 | RTL1 | c.1833C>A (p.Pro611=) | |
| 14 | g.100882957G>A | CA390995304 | RTL1 | c.1832C>T (p.Pro611Leu) | gnomAD v4 |
| 14 | g.100882957G>C | CA390995303 | RTL1 | c.1832C>G (p.Pro611Arg) | |
| 14 | g.100882957G>T | CA390995302 | RTL1 | c.1832C>A (p.Pro611His) | |
| 14 | g.100882958G>A | CA7347263 | RTL1 | c.1831C>T (p.Pro611Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100882958G>C | CA390995305 | RTL1 | c.1831C>G (p.Pro611Ala) | dbSNP gnomAD v4 |
| 14 | g.100882958G= | CA2159074711 | RTL1 | c.1831C= (p.Pro611=) | |
| 14 | g.100882958G>T | CA390995306 | RTL1 | c.1831C>A (p.Pro611Thr) | gnomAD v4 |
| 14 | g.100882959A>C | CA390995307 | RTL1 | c.1830T>G (p.Cys610Trp) | |
| 14 | g.100882959A>G | CA488181206 | RTL1 | c.1830T>C (p.Cys610=) | |
| 14 | g.100882959A>T | CA390995308 | RTL1 | c.1830T>A (p.Cys610Ter) | |
| 14 | g.100882960C>A | CA390995309 | RTL1 | c.1829G>T (p.Cys610Phe) | |
| 14 | g.100882960C>G | CA390995310 | RTL1 | c.1829G>C (p.Cys610Ser) | |
| 14 | g.100882960C>T | CA390995312 | RTL1 | c.1829G>A (p.Cys610Tyr) | gnomAD v4 |
| 14 | g.100882961A= | CA2159074714 | RTL1 | c.1828T= (p.Cys610=) | |
| 14 | g.100882961A>C | CA390995313 | RTL1 | c.1828T>G (p.Cys610Gly) | |
| 14 | g.100882961A>G | CA7347264 | RTL1 | c.1828T>C (p.Cys610Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.100882961A>T | CA390995314 | RTL1 | c.1828T>A (p.Cys610Ser) | |
| 14 | g.100882962C>A | CA390995315 | RTL1 | c.1827G>T (p.Glu609Asp) | |
| 14 | g.100882962C= | CA2159074718 | RTL1 | c.1827G= (p.Glu609=) | |
| 14 | g.100882962C>G | CA390995316 | RTL1 | c.1827G>C (p.Glu609Asp) | dbSNP |
| 14 | g.100882962C>T | CA266905067 | RTL1 | c.1827G>A (p.Glu609=) | dbSNP gnomAD v4 |
| 14 | g.100882963T>A | CA390995318 | RTL1 | c.1826A>T (p.Glu609Val) | |
| 14 | g.100882963T>C | CA390995319 | RTL1 | c.1826A>G (p.Glu609Gly) | |
| 14 | g.100882963T>G | CA390995317 | RTL1 | c.1826A>C (p.Glu609Ala) | |
| 14 | g.100882964C>A | CA390995320 | RTL1 | c.1825G>T (p.Glu609Ter) | gnomAD v4 |
| 14 | g.100882964C= | CA2159074720 | RTL1 | c.1825G= (p.Glu609=) | |
| 14 | g.100882964C>G | CA390995321 | RTL1 | c.1825G>C (p.Glu609Gln) | |
| 14 | g.100882964C>T | CA390995322 | RTL1 | c.1825G>A (p.Glu609Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100882965G>A | CA7347265 | RTL1 | c.1824C>T (p.Tyr608=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.100882965G>C | CA390995323 | RTL1 | c.1824C>G (p.Tyr608Ter) | |
| 14 | g.100882965G= | CA2159074721 | RTL1 | c.1824C= (p.Tyr608=) | |
| 14 | g.100882965G>T | CA390995324 | RTL1 | c.1824C>A (p.Tyr608Ter) | |
| 14 | g.100882966T>A | CA390995327 | RTL1 | c.1823A>T (p.Tyr608Phe) | |
| 14 | g.100882966T>C | CA390995325 | RTL1 | c.1823A>G (p.Tyr608Cys) | |
| 14 | g.100882966T>G | CA390995326 | RTL1 | c.1823A>C (p.Tyr608Ser) | |
| 14 | g.100882967A= | CA2159074722 | RTL1 | c.1822T= (p.Tyr608=) | |
| 14 | g.100882967A>C | CA390995328 | RTL1 | c.1822T>G (p.Tyr608Asp) | |
| 14 | g.100882967A>G | CA390995329 | RTL1 | c.1822T>C (p.Tyr608His) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100882967A>T | CA390995330 | RTL1 | c.1822T>A (p.Tyr608Asn) | |
| 14 | g.100882968A>C | CA390995331 | RTL1 | c.1821T>G (p.Phe607Leu) | |
| 14 | g.100882968A>G | CA488181223 | RTL1 | c.1821T>C (p.Phe607=) | |
| 14 | g.100882968A>T | CA390995332 | RTL1 | c.1821T>A (p.Phe607Leu) | |
| 14 | g.100882969A>C | CA390995333 | RTL1 | c.1820T>G (p.Phe607Cys) | |
| 14 | g.100882969A>G | CA390995335 | RTL1 | c.1820T>C (p.Phe607Ser) | gnomAD v4 |
| 14 | g.100882969A>T | CA390995334 | RTL1 | c.1820T>A (p.Phe607Tyr) | |
| 14 | g.100882970A>C | CA390995336 | RTL1 | c.1819T>G (p.Phe607Val) | |
| 14 | g.100882970A>G | CA390995337 | RTL1 | c.1819T>C (p.Phe607Leu) | gnomAD v4 |
| 14 | g.100882970A>T | CA390995338 | RTL1 | c.1819T>A (p.Phe607Ile) | |
| 14 | g.100882971G>A | CA7347266 | RTL1 | c.1818C>T (p.Thr606=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.100882971G>C | CA488181453 | RTL1 | c.1818C>G (p.Thr606=) | |
| 14 | g.100882971G= | CA2159074723 | RTL1 | c.1818C= (p.Thr606=) | |
| 14 | g.100882971G>T | CA488181454 | RTL1 | c.1818C>A (p.Thr606=) | gnomAD v4 |
| 14 | g.100882972dup | CA2626553061 | RTL1 | c.1818dup (p.Phe607LeufsTer?) | gnomAD v4 |
| 14 | g.100882972G>A | CA7347267 | RTL1 | c.1817C>T (p.Thr606Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.100882972G>C | CA390995339 | RTL1 | c.1817C>G (p.Thr606Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100882972G= | CA2159074724 | RTL1 | c.1817C= (p.Thr606=) | |
| 14 | g.100882972G>T | CA7347268 | RTL1 | c.1817C>A (p.Thr606Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.100882973T>A | CA390995340 | RTL1 | c.1816A>T (p.Thr606Ser) | |
| 14 | g.100882973T>C | CA390995341 | RTL1 | c.1816A>G (p.Thr606Ala) | |
| 14 | g.100882973T>G | CA390995342 | RTL1 | c.1816A>C (p.Thr606Pro) | |
| 14 | g.100882974C>A | CA390995343 | RTL1 | c.1815G>T (p.Glu605Asp) | gnomAD v4 |
| 14 | g.100882974C= | CA2159074726 | RTL1 | c.1815G= (p.Glu605=) | |
| 14 | g.100882974C>G | CA390995344 | RTL1 | c.1815G>C (p.Glu605Asp) | |
| 14 | g.100882974C>T | CA488181471 | RTL1 | c.1815G>A (p.Glu605=) | dbSNP |
| 14 | g.100882975T>A | CA390995345 | RTL1 | c.1814A>T (p.Glu605Val) | gnomAD v4 |
| 14 | g.100882975T>C | CA390995347 | RTL1 | c.1814A>G (p.Glu605Gly) | |
| 14 | g.100882975T>G | CA390995346 | RTL1 | c.1814A>C (p.Glu605Ala) | |
| 14 | g.100882976C>A | CA390995348 | RTL1 | c.1813G>T (p.Glu605Ter) | |
| 14 | g.100882976C>G | CA390995349 | RTL1 | c.1813G>C (p.Glu605Gln) | |
| 14 | g.100882976C>T | CA390995350 | RTL1 | c.1813G>A (p.Glu605Lys) | |
| 14 | g.100882977G>A | CA7347269 | RTL1 | c.1812C>T (p.Ser604=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.100882977G>C | CA390995351 | RTL1 | c.1812C>G (p.Ser604Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100882977G= | CA2159074730 | RTL1 | c.1812C= (p.Ser604=) | |
| 14 | g.100882977G>T | CA390995352 | RTL1 | c.1812C>A (p.Ser604Arg) | gnomAD v4 |
| 14 | g.100882978_100882980del | CA2626553074 | RTL1 | c.1810_1812del (p.Ser604del) | gnomAD v4 |
| 14 | g.100882978C>A | CA390995355 | RTL1 | c.1811G>T (p.Ser604Ile) | |
| 14 | g.100882978C>G | CA390995353 | RTL1 | c.1811G>C (p.Ser604Thr) | |
| 14 | g.100882978C>T | CA390995354 | RTL1 | c.1811G>A (p.Ser604Asn) | |
| 14 | g.100882979T>A | CA390995356 | MIR127,RTL1 | c.1810A>T (p.Ser604Cys) n.1T>A | |
| 14 | g.100882979T>C | CA390995357 | MIR127,RTL1 | c.1810A>G (p.Ser604Gly) n.1T>C | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.100882979T>G | CA390995358 | MIR127,RTL1 | c.1810A>C (p.Ser604Arg) n.1T>G | |
| 14 | g.100882979T= | CA2159074732 | MIR127,RTL1 | c.1810A= (p.Ser604=) n.1T= | |
| 14 | g.100882980G>A | CA488181489 | MIR127,RTL1 | c.1809C>T (p.His603=) n.2G>A | |
| 14 | g.100882980G>C | CA390995359 | MIR127,RTL1 | c.1809C>G (p.His603Gln) n.2G>C | |
| 14 | g.100882980G= | CA2159074735 | MIR127,RTL1 | c.1809C= (p.His603=) n.2G= | |
| 14 | g.100882980G>T | CA390995360 | MIR127,RTL1 | c.1809C>A (p.His603Gln) n.2G>T | |
| 14 | g.100882981T>A | CA390995361 | MIR127,RTL1 | c.1808A>T (p.His603Leu) n.3T>A | |
| 14 | g.100882981T>C | CA390995363 | MIR127,RTL1 | c.1808A>G (p.His603Arg) n.3T>C | |
| 14 | g.100882981T>G | CA390995362 | MIR127,RTL1 | c.1808A>C (p.His603Pro) n.3T>G | |
| 14 | g.100882982_100882984dup | CA2159074737 | MIR127,RTL1 | c.1806_1808dup (p.His603_Ser604insHis) n.4_6dup | dbSNP |
| 14 | g.100882982G>A | CA390995364 | MIR127,RTL1 | c.1807C>T (p.His603Tyr) n.4G>A | |
| 14 | g.100882982G>C | CA390995365 | MIR127,RTL1 | c.1807C>G (p.His603Asp) n.4G>C | |
| 14 | g.100882982G>T | CA390995366 | MIR127,RTL1 | c.1807C>A (p.His603Asn) n.4G>T | |
| 14 | g.100882983A= | CA2159074739 | MIR127,RTL1 | c.1806T= (p.Asp602=) n.5A= | |
| 14 | g.100882983A>C | CA390995367 | MIR127,RTL1 | c.1806T>G (p.Asp602Glu) n.5A>C | |
| 14 | g.100882983A>G | CA488181500 | MIR127,RTL1 | c.1806T>C (p.Asp602=) n.5A>G | dbSNP |
| 14 | g.100882983A>T | CA390995368 | MIR127,RTL1 | c.1806T>A (p.Asp602Glu) n.5A>T | dbSNP gnomAD v4 |
| 14 | g.100882984T>A | CA390995369 | MIR127,RTL1 | c.1805A>T (p.Asp602Val) n.6T>A | |
| 14 | g.100882984T>C | CA390995370 | MIR127,RTL1 | c.1805A>G (p.Asp602Gly) n.6T>C | |
| 14 | g.100882984T>G | CA390995371 | MIR127,RTL1 | c.1805A>C (p.Asp602Ala) n.6T>G | |
| 14 | g.100882985C>A | CA390995372 | MIR127,RTL1 | c.1804G>T (p.Asp602Tyr) n.7C>A | |
| 14 | g.100882985C>G | CA390995373 | MIR127,RTL1 | c.1804G>C (p.Asp602His) n.7C>G | |
| 14 | g.100882985C>T | CA390995374 | MIR127,RTL1 | c.1804G>A (p.Asp602Asn) n.7C>T | gnomAD v4 |
| 14 | g.100882986A>C | CA390995375 | MIR127,RTL1 | c.1803T>G (p.Ser601Arg) n.8A>C | |
| 14 | g.100882986A>G | CA488181516 | MIR127,RTL1 | c.1803T>C (p.Ser601=) n.8A>G | |
| 14 | g.100882986A>T | CA390995376 | MIR127,RTL1 | c.1803T>A (p.Ser601Arg) n.8A>T | |
| 14 | g.100882987C>A | CA390995377 | MIR127,RTL1 | c.1802G>T (p.Ser601Ile) n.9C>A | |
| 14 | g.100882987C>G | CA390995379 | MIR127,RTL1 | c.1802G>C (p.Ser601Thr) n.9C>G | |
| 14 | g.100882987C>T | CA390995378 | MIR127,RTL1 | c.1802G>A (p.Ser601Asn) n.9C>T | |
| 14 | g.100882988T>A | CA390995380 | MIR127,RTL1 | c.1801A>T (p.Ser601Cys) n.10T>A | |
| 14 | g.100882988T>C | CA390995381 | MIR127,RTL1 | c.1801A>G (p.Ser601Gly) n.10T>C | |
| 14 | g.100882988T>G | CA390995382 | MIR127,RTL1 | c.1801A>C (p.Ser601Arg) n.10T>G | |
| 14 | g.100882989G>A | CA488181530 | MIR127,RTL1 | c.1800C>T (p.Asp600=) n.11G>A | dbSNP gnomAD v4 |
| 14 | g.100882989G>C | CA390995383 | MIR127,RTL1 | c.1800C>G (p.Asp600Glu) n.11G>C | |
| 14 | g.100882989G= | CA2159074742 | MIR127,RTL1 | c.1800C= (p.Asp600=) n.11G= | |
| 14 | g.100882989G>T | CA390995384 | MIR127,RTL1 | c.1800C>A (p.Asp600Glu) n.11G>T | |
| 14 | g.100882990T>A | CA390995387 | MIR127,RTL1 | c.1799A>T (p.Asp600Val) n.12T>A | |
| 14 | g.100882990T>C | CA390995386 | MIR127,RTL1 | c.1799A>G (p.Asp600Gly) n.12T>C | |
| 14 | g.100882990T>G | CA390995385 | MIR127,RTL1 | c.1799A>C (p.Asp600Ala) n.12T>G | |
| 14 | g.100882991C>A | CA390995388 | MIR127,RTL1 | c.1798G>T (p.Asp600Tyr) n.13C>A | |
| 14 | g.100882991C>G | CA390995389 | MIR127,RTL1 | c.1798G>C (p.Asp600His) n.13C>G | |
| 14 | g.100882991C>T | CA390995390 | MIR127,RTL1 | c.1798G>A (p.Asp600Asn) n.13C>T | |
| 14 | g.100882992T>A | CA488181540 | MIR127,RTL1 | c.1797A>T (p.Gly599=) n.14T>A | |
| 14 | g.100882992T>C | CA488181544 | MIR127,RTL1 | c.1797A>G (p.Gly599=) n.14T>C | |
| 14 | g.100882992T>G | CA488181546 | MIR127,RTL1 | c.1797A>C (p.Gly599=) n.14T>G | |
| 14 | g.100882993C>A | CA390995391 | MIR127,RTL1 | c.1796G>T (p.Gly599Val) n.15C>A | |
| 14 | g.100882993C>G | CA390995392 | MIR127,RTL1 | c.1796G>C (p.Gly599Ala) n.15C>G | |
| 14 | g.100882993C>T | CA390995393 | MIR127,RTL1 | c.1796G>A (p.Gly599Glu) n.15C>T | COSMIC |
| 14 | g.100882993_100882998del | CA2626553091 | MIR127,RTL1 | c.1791_1796del (p.Ala598_Gly599del) n.15_20del | gnomAD v4 |
| 14 | g.100882994C>A | CA390995394 | MIR127,RTL1 | c.1795G>T (p.Gly599Ter) n.16C>A | |
| 14 | g.100882994C>G | CA390995396 | MIR127,RTL1 | c.1795G>C (p.Gly599Arg) n.16C>G | |
| 14 | g.100882994C>T | CA390995395 | MIR127,RTL1 | c.1795G>A (p.Gly599Arg) n.16C>T | gnomAD v4 |
| 14 | g.100882995A>C | CA488181555 | MIR127,RTL1 | c.1794T>G (p.Ala598=) n.17A>C | |
| 14 | g.100882995A>G | CA488181557 | MIR127,RTL1 | c.1794T>C (p.Ala598=) n.17A>G | |
| 14 | g.100882995A>T | CA488181559 | MIR127,RTL1 | c.1794T>A (p.Ala598=) n.17A>T | |
| 14 | g.100882996G>A | CA390995397 | MIR127,RTL1 | c.1793C>T (p.Ala598Val) n.18G>A | |
| 14 | g.100882996G>C | CA390995398 | MIR127,RTL1 | c.1793C>G (p.Ala598Gly) n.18G>C | |
| 14 | g.100882996G>T | CA390995399 | MIR127,RTL1 | c.1793C>A (p.Ala598Asp) n.18G>T | |
| 14 | g.100882997C>A | CA390995400 | MIR127,RTL1 | c.1792G>T (p.Ala598Ser) n.19C>A | |
| 14 | g.100882997C>G | CA390995401 | MIR127,RTL1 | c.1792G>C (p.Ala598Pro) n.19C>G | |
| 14 | g.100882997C>T | CA390995402 | MIR127,RTL1 | c.1792G>A (p.Ala598Thr) n.19C>T | |
| 14 | g.100882998C>A | CA390995403 | MIR127,RTL1 | c.1791G>T (p.Gln597His) n.20C>A | |
| 14 | g.100882998C>G | CA390995404 | MIR127,RTL1 | c.1791G>C (p.Gln597His) n.20C>G | |
| 14 | g.100882998C>T | CA488181580 | MIR127,RTL1 | c.1791G>A (p.Gln597=) n.20C>T | |
| 14 | g.100882999T>A | CA390995405 | MIR127,RTL1 | c.1790A>T (p.Gln597Leu) n.21T>A | |
| 14 | g.100882999T>C | CA390995406 | MIR127,RTL1 | c.1790A>G (p.Gln597Arg) n.21T>C | |
| 14 | g.100882999T>G | CA390995407 | MIR127,RTL1 | c.1790A>C (p.Gln597Pro) n.21T>G | |
| 14 | g.100883000G>A | CA390995408 | MIR127,RTL1 | c.1789C>T (p.Gln597Ter) n.22G>A | |
| 14 | g.100883000G>C | CA390995410 | MIR127,RTL1 | c.1789C>G (p.Gln597Glu) n.22G>C | |
| 14 | g.100883000G>T | CA390995409 | MIR127,RTL1 | c.1789C>A (p.Gln597Lys) n.22G>T | |
| 14 | g.100883001C>A | CA390995411 | MIR127,RTL1 | c.1788G>T (p.Gln596His) n.23C>A | |
| 14 | g.100883001C>G | CA390995412 | MIR127,RTL1 | c.1788G>C (p.Gln596His) n.23C>G | |
| 14 | g.100883001C>T | CA488181612 | MIR127,RTL1 | c.1788G>A (p.Gln596=) n.23C>T | |
| 14 | g.100883002T>A | CA390995413 | MIR127,RTL1 | c.1787A>T (p.Gln596Leu) n.24T>A | |
| 14 | g.100883002T>C | CA390995414 | MIR127,RTL1 | c.1787A>G (p.Gln596Arg) n.24T>C | gnomAD v4 |
| 14 | g.100883002T>G | CA390995415 | MIR127,RTL1 | c.1787A>C (p.Gln596Pro) n.24T>G | |
| 14 | g.100883003G>A | CA390995416 | MIR127,RTL1 | c.1786C>T (p.Gln596Ter) n.25G>A | |
| 14 | g.100883003G>C | CA390995417 | MIR127,RTL1 | c.1786C>G (p.Gln596Glu) n.25G>C | |
| 14 | g.100883003G>T | CA390995418 | MIR127,RTL1 | c.1786C>A (p.Gln596Lys) n.25G>T | |
| 14 | g.100883004A>C | CA488181621 | MIR127,RTL1 | c.1785T>G (p.Leu595=) n.26A>C | |
| 14 | g.100883004A>G | CA488181618 | MIR127,RTL1 | c.1785T>C (p.Leu595=) n.26A>G | |
| 14 | g.100883004A>T | CA488181620 | MIR127,RTL1 | c.1785T>A (p.Leu595=) n.26A>T | |
| 14 | g.100883005A>C | CA390995419 | MIR127,RTL1 | c.1784T>G (p.Leu595Arg) n.27A>C | |
| 14 | g.100883005A>G | CA390995420 | MIR127,RTL1 | c.1784T>C (p.Leu595Pro) n.27A>G | |
| 14 | g.100883005A>T | CA390995421 | MIR127,RTL1 | c.1784T>A (p.Leu595His) n.27A>T | |
| 14 | g.100883006G>A | CA390995424 | MIR127,RTL1 | c.1783C>T (p.Leu595Phe) n.28G>A | |
| 14 | g.100883006G>C | CA390995422 | MIR127,RTL1 | c.1783C>G (p.Leu595Val) n.28G>C | |
| 14 | g.100883006G>T | CA390995423 | MIR127,RTL1 | c.1783C>A (p.Leu595Ile) n.28G>T | |
| 14 | g.100883007C>A | CA390995425 | MIR127,RTL1 | c.1782G>T (p.Glu594Asp) n.29C>A | |
| 14 | g.100883007C>G | CA390995426 | MIR127,RTL1 | c.1782G>C (p.Glu594Asp) n.29C>G | |
| 14 | g.100883007C>T | CA488181629 | MIR127,RTL1 | c.1782G>A (p.Glu594=) n.29C>T | |
| 14 | g.100883008T>A | CA390995427 | MIR127,RTL1 | c.1781A>T (p.Glu594Val) n.30T>A | |
| 14 | g.100883008T>C | CA390995428 | MIR127,RTL1 | c.1781A>G (p.Glu594Gly) n.30T>C | |
| 14 | g.100883008T>G | CA390995429 | MIR127,RTL1 | c.1781A>C (p.Glu594Ala) n.30T>G | |
| 14 | g.100883009C>A | CA390995430 | MIR127,RTL1 | c.1780G>T (p.Glu594Ter) n.31C>A | |
| 14 | g.100883009C>G | CA390995431 | MIR127,RTL1 | c.1780G>C (p.Glu594Gln) n.31C>G | |
| 14 | g.100883009C>T | CA390995432 | MIR127,RTL1 | c.1780G>A (p.Glu594Lys) n.31C>T | |
| 14 | g.100883010A>C | CA488181642 | MIR127,RTL1 | c.1779T>G (p.Ser593=) n.32A>C | |
| 14 | g.100883010A>G | CA488181641 | MIR127,RTL1 | c.1779T>C (p.Ser593=) n.32A>G | |
| 14 | g.100883010A>T | CA488181643 | MIR127,RTL1 | c.1779T>A (p.Ser593=) n.32A>T | |
| 14 | g.100883011G>A | CA266905096 | MIR127,RTL1 | c.1778C>T (p.Ser593Phe) n.33G>A | dbSNP |
| 14 | g.100883011G>C | CA390995433 | MIR127,RTL1 | c.1778C>G (p.Ser593Cys) n.33G>C | |
| 14 | g.100883011G= | CA2159074744 | MIR127,RTL1 | c.1778C= (p.Ser593=) n.33G= | |
| 14 | g.100883011G>T | CA390995434 | MIR127,RTL1 | c.1778C>A (p.Ser593Tyr) n.33G>T | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.100883012A>C | CA390995436 | MIR127,RTL1 | c.1777T>G (p.Ser593Ala) n.34A>C | |
| 14 | g.100883012A>G | CA390995437 | MIR127,RTL1 | c.1777T>C (p.Ser593Pro) n.34A>G | |
| 14 | g.100883012A>T | CA390995435 | MIR127,RTL1 | c.1777T>A (p.Ser593Thr) n.34A>T | |
| 14 | g.100883013G>A | CA488181654 | MIR127,RTL1 | c.1776C>T (p.Pro592=) n.35G>A | |
| 14 | g.100883013G>C | CA488181657 | MIR127,RTL1 | c.1776C>G (p.Pro592=) n.35G>C | |
| 14 | g.100883013G>T | CA488181658 | MIR127,RTL1 | c.1776C>A (p.Pro592=) n.35G>T | |
| 14 | g.100883014G>A | CA390995440 | MIR127,RTL1 | c.1775C>T (p.Pro592Leu) n.36G>A | |
| 14 | g.100883014G>C | CA390995438 | MIR127,RTL1 | c.1775C>G (p.Pro592Arg) n.36G>C | |
| 14 | g.100883014G>T | CA390995439 | MIR127,RTL1 | c.1775C>A (p.Pro592His) n.36G>T | |
| 14 | g.100883015G>A | CA390995441 | MIR127,RTL1 | c.1774C>T (p.Pro592Ser) n.37G>A | |
| 14 | g.100883015G>C | CA390995442 | MIR127,RTL1 | c.1774C>G (p.Pro592Ala) n.37G>C | |
| 14 | g.100883015G>T | CA390995443 | MIR127,RTL1 | c.1774C>A (p.Pro592Thr) n.37G>T | |
| 14 | g.100883015_100883016insAT | CA2802833480 | MIR127,RTL1 | c.1773_1774insAT (p.Pro592IlefsTer?) n.37_38insAT | |
| 14 | g.100883016C>A | CA390995444 | MIR127,RTL1 | c.1773G>T (p.Glu591Asp) n.38C>A | |
| 14 | g.100883016C>G | CA390995445 | MIR127,RTL1 | c.1773G>C (p.Glu591Asp) n.38C>G | |
| 14 | g.100883016C>T | CA488181673 | MIR127,RTL1 | c.1773G>A (p.Glu591=) n.38C>T | gnomAD v4 |
| 14 | g.100883016_100883017insCGATGATCTT | CA2802833481 | MIR127,RTL1 | c.1772_1773insAAGATCATCG (p.Pro592ArgfsTer6) n.38_39insCGATGATCTT | |
| 14 | g.100883017T>A | CA390995446 | MIR127,RTL1 | c.1772A>T (p.Glu591Val) n.39T>A | |
| 14 | g.100883017T>C | CA390995447 | MIR127,RTL1 | c.1772A>G (p.Glu591Gly) n.39T>C | |
| 14 | g.100883017T>G | CA390995448 | MIR127,RTL1 | c.1772A>C (p.Glu591Ala) n.39T>G | |
| 14 | g.100883018C>A | CA390995449 | MIR127,RTL1 | c.1771G>T (p.Glu591Ter) n.40C>A | |
| 14 | g.100883018C>G | CA390995450 | MIR127,RTL1 | c.1771G>C (p.Glu591Gln) n.40C>G | |
| 14 | g.100883018C>T | CA390995451 | MIR127,RTL1 | c.1771G>A (p.Glu591Lys) n.40C>T | |
| 14 | g.100883019T>A | CA488181682 | MIR127,RTL1 | c.1770A>T (p.Ser590=) n.41T>A | |
| 14 | g.100883019T>C | CA488181684 | MIR127,RTL1 | c.1770A>G (p.Ser590=) n.41T>C | dbSNP |
| 14 | g.100883019T>G | CA488181687 | MIR127,RTL1 | c.1770A>C (p.Ser590=) n.41T>G | |
| 14 | g.100883019T= | CA2159074749 | MIR127,RTL1 | c.1770A= (p.Ser590=) n.41T= | |
| 14 | g.100883020G>A | CA390995452 | MIR127,RTL1 | c.1769C>T (p.Ser590Leu) n.42G>A | |
| 14 | g.100883020G>C | CA390995454 | MIR127,RTL1 | c.1769C>G (p.Ser590Ter) n.42G>C | |
| 14 | g.100883020G>T | CA390995453 | MIR127,RTL1 | c.1769C>A (p.Ser590Ter) n.42G>T |