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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127814982_127820052del | CA1139659920 | ClinVar | ||
| 9 | g.127815736G>A | CA5252583 | ENG | c.1377C>T (p.Asn459=) c.1923C>T (p.Asn641=) c.*181C>T (n.*181C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127815736G>C | CA374970045 | ENG | c.1377C>G (p.Asn459Lys) c.1923C>G (p.Asn641Lys) c.*181C>G (n.*181C>G) | |
| 9 | g.127815736G= | CA1879981274 | ENG | c.1377C= (p.Asn459=) c.1923C= (p.Asn641=) c.*181C= (n.*181C=) | |
| 9 | g.127815736G>T | CA374970037 | ENG | c.1377C>A (p.Asn459Lys) c.1923C>A (p.Asn641Lys) c.*181C>A (n.*181C>A) | gnomAD v4 |
| 9 | g.127815737T>A | CA374970060 | ENG | c.1376A>T (p.Asn459Ile) c.1922A>T (p.Asn641Ile) c.*180A>T (n.*180A>T) | |
| 9 | g.127815737T>C | CA374970074 | ENG | c.1376A>G (p.Asn459Ser) c.1922A>G (p.Asn641Ser) c.*180A>G (n.*180A>G) | gnomAD v4 |
| 9 | g.127815737T>G | CA374970077 | ENG | c.1376A>C (p.Asn459Thr) c.1922A>C (p.Asn641Thr) c.*180A>C (n.*180A>C) | gnomAD v4 |
| 9 | g.127815738T>A | CA374970079 | ENG | c.1375A>T (p.Asn459Tyr) c.1921A>T (p.Asn641Tyr) c.*179A>T (n.*179A>T) | gnomAD v4 |
| 9 | g.127815738T>C | CA374970080 | ENG | c.1375A>G (p.Asn459Asp) c.1921A>G (p.Asn641Asp) c.*179A>G (n.*179A>G) | gnomAD v4 |
| 9 | g.127815738T>G | CA374970085 | ENG | c.1375A>C (p.Asn459His) c.1921A>C (p.Asn641His) c.*179A>C (n.*179A>C) | dbSNP |
| 9 | g.127815739G>A | CA467474423 | ENG | c.1374C>T (p.Thr458=) c.1920C>T (p.Thr640=) c.*178C>T (n.*178C>T) | gnomAD v4 |
| 9 | g.127815739G>C | CA467474424 | ENG | c.1374C>G (p.Thr458=) c.1920C>G (p.Thr640=) c.*178C>G (n.*178C>G) | ClinVar |
| 9 | g.127815739G>T | CA467474426 | ENG | c.1374C>A (p.Thr458=) c.1920C>A (p.Thr640=) c.*178C>A (n.*178C>A) | gnomAD v4 |
| 9 | g.127815740G>A | CA374970101 | ENG | c.1373C>T (p.Thr458Ile) c.1919C>T (p.Thr640Ile) c.*177C>T (n.*177C>T) | gnomAD v4 |
| 9 | g.127815740G>C | CA374970105 | ENG | c.1373C>G (p.Thr458Ser) c.1919C>G (p.Thr640Ser) c.*177C>G (n.*177C>G) | |
| 9 | g.127815740G>T | CA374970108 | ENG | c.1373C>A (p.Thr458Asn) c.1919C>A (p.Thr640Asn) c.*177C>A (n.*177C>A) | gnomAD v4 |
| 9 | g.127815741T>A | CA374970116 | ENG | c.1372A>T (p.Thr458Ser) c.1918A>T (p.Thr640Ser) c.*176A>T (n.*176A>T) | |
| 9 | g.127815741T>C | CA374970129 | ENG | c.1372A>G (p.Thr458Ala) c.1918A>G (p.Thr640Ala) c.*176A>G (n.*176A>G) | |
| 9 | g.127815741T>G | CA374970142 | ENG | c.1372A>C (p.Thr458Pro) c.1918A>C (p.Thr640Pro) c.*176A>C (n.*176A>C) | gnomAD v4 |
| 9 | g.127815742G>A | CA467474433 | ENG | c.1371C>T (p.Ser457=) c.1917C>T (p.Ser639=) c.*175C>T (n.*175C>T) | dbSNP gnomAD v4 |
| 9 | g.127815742G>C | CA374970149 | ENG | c.1371C>G (p.Ser457Arg) c.1917C>G (p.Ser639Arg) c.*175C>G (n.*175C>G) | |
| 9 | g.127815742G= | CA1879981280 | ENG | c.1371C= (p.Ser457=) c.1917C= (p.Ser639=) c.*175C= (n.*175C=) | |
| 9 | g.127815742G>T | CA374970148 | ENG | c.1371C>A (p.Ser457Arg) c.1917C>A (p.Ser639Arg) c.*175C>A (n.*175C>A) | dbSNP gnomAD v4 |
| 9 | g.127815743C>A | CA374970157 | ENG | c.1370G>T (p.Ser457Ile) c.1916G>T (p.Ser639Ile) c.*174G>T (n.*174G>T) | gnomAD v4 |
| 9 | g.127815743C>G | CA374970159 | ENG | c.1370G>C (p.Ser457Thr) c.1916G>C (p.Ser639Thr) c.*174G>C (n.*174G>C) | |
| 9 | g.127815743C>T | CA374970160 | ENG | c.1370G>A (p.Ser457Asn) c.1916G>A (p.Ser639Asn) c.*174G>A (n.*174G>A) | gnomAD v4 |
| 9 | g.127815745_127815752del | CA2691805742 | ENG | c.1363_1370del (p.Ser455HisfsTer?) c.1909_1916del (p.Ser637HisfsTer?) c.*167_*174del (n.*167_*174del) | gnomAD v4 |
| 9 | g.127815744T>A | CA374970164 | ENG | c.1369A>T (p.Ser457Cys) c.1915A>T (p.Ser639Cys) c.*173A>T (n.*173A>T) | |
| 9 | g.127815744T>C | CA374970181 | ENG | c.1369A>G (p.Ser457Gly) c.1915A>G (p.Ser639Gly) c.*173A>G (n.*173A>G) | |
| 9 | g.127815744T>G | CA374970186 | ENG | c.1369A>C (p.Ser457Arg) c.1915A>C (p.Ser639Arg) c.*173A>C (n.*173A>C) | |
| 9 | g.127815745G>A | CA467474443 | ENG | c.1368C>T (p.Ser456=) c.1914C>T (p.Ser638=) c.*172C>T (n.*172C>T) | gnomAD v4 |
| 9 | g.127815745G>C | CA374970188 | ENG | c.1368C>G (p.Ser456Arg) c.1914C>G (p.Ser638Arg) c.*172C>G (n.*172C>G) | |
| 9 | g.127815745G= | CA1879981287 | ENG | c.1368C= (p.Ser456=) c.1914C= (p.Ser638=) c.*172C= (n.*172C=) | |
| 9 | g.127815745G>T | CA200301165 | ENG | c.1368C>A (p.Ser456Arg) c.1914C>A (p.Ser638Arg) c.*172C>A (n.*172C>A) | dbSNP gnomAD v4 |
| 9 | g.127815746C>A | CA374970209 | ENG | c.1367G>T (p.Ser456Ile) c.1913G>T (p.Ser638Ile) c.*171G>T (n.*171G>T) | gnomAD v4 |
| 9 | g.127815746C>G | CA374970210 | ENG | c.1367G>C (p.Ser456Thr) c.1913G>C (p.Ser638Thr) c.*171G>C (n.*171G>C) | |
| 9 | g.127815746C>T | CA374970211 | ENG | c.1367G>A (p.Ser456Asn) c.1913G>A (p.Ser638Asn) c.*171G>A (n.*171G>A) | gnomAD v4 |
| 9 | g.127815747T>A | CA374970216 | ENG | c.1366A>T (p.Ser456Cys) c.1912A>T (p.Ser638Cys) c.*170A>T (n.*170A>T) | |
| 9 | g.127815747T>C | CA374970220 | ENG | c.1366A>G (p.Ser456Gly) c.1912A>G (p.Ser638Gly) c.*170A>G (n.*170A>G) | gnomAD v4 |
| 9 | g.127815747T>G | CA374970223 | ENG | c.1366A>C (p.Ser456Arg) c.1912A>C (p.Ser638Arg) c.*170A>C (n.*170A>C) | |
| 9 | g.127815748G>A | CA467474452 | ENG | c.1365C>T (p.Ser455=) c.1911C>T (p.Ser637=) c.*169C>T (n.*169C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127815748G>C | CA374970229 | ENG | c.1365C>G (p.Ser455Arg) c.1911C>G (p.Ser637Arg) c.*169C>G (n.*169C>G) | |
| 9 | g.127815748G= | CA1879981297 | ENG | c.1365C= (p.Ser455=) c.1911C= (p.Ser637=) c.*169C= (n.*169C=) | |
| 9 | g.127815748G>T | CA374970227 | ENG | c.1365C>A (p.Ser455Arg) c.1911C>A (p.Ser637Arg) c.*169C>A (n.*169C>A) | gnomAD v4 |
| 9 | g.127815749C>A | CA374970232 | ENG | c.1364G>T (p.Ser455Ile) c.1910G>T (p.Ser637Ile) c.*168G>T (n.*168G>T) | gnomAD v4 |
| 9 | g.127815749C= | CA1879981299 | ENG | c.1364G= (p.Ser455=) c.1910G= (p.Ser637=) c.*168G= (n.*168G=) | |
| 9 | g.127815749C>G | CA374970233 | ENG | c.1364G>C (p.Ser455Thr) c.1910G>C (p.Ser637Thr) c.*168G>C (n.*168G>C) | gnomAD v4 |
| 9 | g.127815749C>T | CA374970235 | ENG | c.1364G>A (p.Ser455Asn) c.1910G>A (p.Ser637Asn) c.*168G>A (n.*168G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127815750T>A | CA374970240 | ENG | c.1363A>T (p.Ser455Cys) c.1909A>T (p.Ser637Cys) c.*167A>T (n.*167A>T) | gnomAD v4 |
| 9 | g.127815750T>C | CA374970254 | ENG | c.1363A>G (p.Ser455Gly) c.1909A>G (p.Ser637Gly) c.*167A>G (n.*167A>G) | |
| 9 | g.127815750T>G | CA374970259 | ENG | c.1363A>C (p.Ser455Arg) c.1909A>C (p.Ser637Arg) c.*167A>C (n.*167A>C) | |
| 9 | g.127815751C>A | CA374970269 | ENG | c.1362G>T (p.Glu454Asp) c.1908G>T (p.Glu636Asp) c.*166G>T (n.*166G>T) | gnomAD v4 |
| 9 | g.127815751C= | CA1879981305 | ENG | c.1362G= (p.Glu454=) c.1908G= (p.Glu636=) c.*166G= (n.*166G=) | |
| 9 | g.127815751C>G | CA374970271 | ENG | c.1362G>C (p.Glu454Asp) c.1908G>C (p.Glu636Asp) c.*166G>C (n.*166G>C) | dbSNP |
| 9 | g.127815751C>T | CA467474459 | ENG | c.1362G>A (p.Glu454=) c.1908G>A (p.Glu636=) c.*166G>A (n.*166G>A) | gnomAD v4 |
| 9 | g.127815752T>A | CA374970276 | ENG | c.1361A>T (p.Glu454Val) c.1907A>T (p.Glu636Val) c.*165A>T (n.*165A>T) | |
| 9 | g.127815752T>C | CA374970277 | ENG | c.1361A>G (p.Glu454Gly) c.1907A>G (p.Glu636Gly) c.*165A>G (n.*165A>G) | gnomAD v4 |
| 9 | g.127815752T>G | CA374970278 | ENG | c.1361A>C (p.Glu454Ala) c.1907A>C (p.Glu636Ala) c.*165A>C (n.*165A>C) | |
| 9 | g.127815753C>A | CA374970289 | ENG | c.1360G>T (p.Glu454Ter) c.1906G>T (p.Glu636Ter) c.*164G>T (n.*164G>T) | gnomAD v4 |
| 9 | g.127815753C>G | CA374970301 | ENG | c.1360G>C (p.Glu454Gln) c.1906G>C (p.Glu636Gln) c.*164G>C (n.*164G>C) | |
| 9 | g.127815753C>T | CA374970305 | ENG | c.1360G>A (p.Glu454Lys) c.1906G>A (p.Glu636Lys) c.*164G>A (n.*164G>A) | |
| 9 | g.127815754C>A | CA467474467 | ENG | c.1359G>T (p.Ser453=) c.1905G>T (p.Ser635=) c.*163G>T (n.*163G>T) | gnomAD v4 |
| 9 | g.127815754C= | CA1879981307 | ENG | c.1359G= (p.Ser453=) c.1905G= (p.Ser635=) c.*163G= (n.*163G=) | |
| 9 | g.127815754C>G | CA467474468 | ENG | c.1359G>C (p.Ser453=) c.1905G>C (p.Ser635=) c.*163G>C (n.*163G>C) | |
| 9 | g.127815754C>T | CA5252584 | ENG | c.1359G>A (p.Ser453=) c.1905G>A (p.Ser635=) c.*163G>A (n.*163G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127815754_127815755del | CA2840533197 | ENG | c.1358_1359del (p.Ser453Ter) c.1904_1905del (p.Ser635Ter) c.*162_*163del (n.*162_*163del) | |
| 9 | g.127815755G>A | CA5252585 | ENG | c.1358C>T (p.Ser453Leu) c.1904C>T (p.Ser635Leu) c.*162C>T (n.*162C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127815755G>C | CA374970316 | ENG | c.1358C>G (p.Ser453Trp) c.1904C>G (p.Ser635Trp) c.*162C>G (n.*162C>G) | |
| 9 | g.127815755G= | CA1879981311 | ENG | c.1358C= (p.Ser453=) c.1904C= (p.Ser635=) c.*162C= (n.*162C=) | |
| 9 | g.127815755G>T | CA374970321 | ENG | c.1358C>A (p.Ser453Ter) c.1904C>A (p.Ser635Ter) c.*162C>A (n.*162C>A) | gnomAD v4 |
| 9 | g.127815756del | CA2838466531 | ENG | c.1357del (p.Ser453ArgfsTer?) c.1903del (p.Ser635ArgfsTer?) c.*161del (n.*161del) | |
| 9 | g.127815756A>C | CA374970323 | ENG | c.1357T>G (p.Ser453Ala) c.1903T>G (p.Ser635Ala) c.*161T>G (n.*161T>G) | |
| 9 | g.127815756A>G | CA374970328 | ENG | c.1357T>C (p.Ser453Pro) c.1903T>C (p.Ser635Pro) c.*161T>C (n.*161T>C) | |
| 9 | g.127815756A>T | CA374970324 | ENG | c.1357T>A (p.Ser453Thr) c.1903T>A (p.Ser635Thr) c.*161T>A (n.*161T>A) | |
| 9 | g.127815757G>A | CA467474476 | ENG | c.1356C>T (p.Ser452=) c.1902C>T (p.Ser634=) c.*160C>T (n.*160C>T) | gnomAD v4 |
| 9 | g.127815757G>C | CA467474477 | ENG | c.1356C>G (p.Ser452=) c.1902C>G (p.Ser634=) c.*160C>G (n.*160C>G) | |
| 9 | g.127815757G>T | CA467474478 | ENG | c.1356C>A (p.Ser452=) c.1902C>A (p.Ser634=) c.*160C>A (n.*160C>A) | gnomAD v4 |
| 9 | g.127815758G>A | CA374970345 | ENG | c.1355C>T (p.Ser452Phe) c.1901C>T (p.Ser634Phe) c.*159C>T (n.*159C>T) | |
| 9 | g.127815758G>C | CA374970355 | ENG | c.1355C>G (p.Ser452Cys) c.1901C>G (p.Ser634Cys) c.*159C>G (n.*159C>G) | |
| 9 | g.127815758G>T | CA374970350 | ENG | c.1355C>A (p.Ser452Tyr) c.1901C>A (p.Ser634Tyr) c.*159C>A (n.*159C>A) | gnomAD v4 |
| 9 | g.127815759A= | CA1879981317 | ENG | c.1354T= (p.Ser452=) c.1900T= (p.Ser634=) c.*158T= (n.*158T=) | |
| 9 | g.127815759A>C | CA200301183 | ENG | c.1354T>G (p.Ser452Ala) c.1900T>G (p.Ser634Ala) c.*158T>G (n.*158T>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127815759A>G | CA374970381 | ENG | c.1354T>C (p.Ser452Pro) c.1900T>C (p.Ser634Pro) c.*158T>C (n.*158T>C) | gnomAD v4 |
| 9 | g.127815759A>T | CA374970392 | ENG | c.1354T>A (p.Ser452Thr) c.1900T>A (p.Ser634Thr) c.*158T>A (n.*158T>A) | |
| 9 | g.127815760G>A | CA467474484 | ENG | c.1353C>T (p.Ala451=) c.1899C>T (p.Ala633=) c.*157C>T (n.*157C>T) | gnomAD v4 |
| 9 | g.127815760G>C | CA467474488 | ENG | c.1353C>G (p.Ala451=) c.1899C>G (p.Ala633=) c.*157C>G (n.*157C>G) | |
| 9 | g.127815760G>T | CA467474490 | ENG | c.1353C>A (p.Ala451=) c.1899C>A (p.Ala633=) c.*157C>A (n.*157C>A) | gnomAD v4 |
| 9 | g.127815761G>A | CA374970399 | ENG | c.1352C>T (p.Ala451Val) c.1898C>T (p.Ala633Val) c.*156C>T (n.*156C>T) | gnomAD v4 |
| 9 | g.127815761G>C | CA374970402 | ENG | c.1352C>G (p.Ala451Gly) c.1898C>G (p.Ala633Gly) c.*156C>G (n.*156C>G) | |
| 9 | g.127815761G>T | CA374970409 | ENG | c.1352C>A (p.Ala451Asp) c.1898C>A (p.Ala633Asp) c.*156C>A (n.*156C>A) | gnomAD v4 |
| 9 | g.127815761_127815762delinsGC | CA1879981324 | ENG | c.1351_1352delinsGC (p.Ala451=) c.1897_1898delinsGC (p.Ala633=) c.*155_*156delinsGC (n.*155_*156delinsGC) | |
| 9 | g.127815762C>A | CA374970415 | ENG | c.1351G>T (p.Ala451Ser) c.1897G>T (p.Ala633Ser) c.*155G>T (n.*155G>T) | gnomAD v4 |
| 9 | g.127815762C= | CA1879981325 | ENG | c.1351G= (p.Ala451=) c.1897G= (p.Ala633=) c.*155G= (n.*155G=) | |
| 9 | g.127815762C>G | CA374970417 | ENG | c.1351G>C (p.Ala451Pro) c.1897G>C (p.Ala633Pro) c.*155G>C (n.*155G>C) | |
| 9 | g.127815762C>T | CA374970419 | ENG | c.1351G>A (p.Ala451Thr) c.1897G>A (p.Ala633Thr) c.*155G>A (n.*155G>A) | dbSNP gnomAD v4 |
| 9 | g.127815763del | CA1879981326 | ENG | c.1351del (p.Ala451ProfsTer?) c.1897del (p.Ala633ProfsTer?) c.*155del (n.*155del) | dbSNP |
| 9 | g.127815763C>A | CA467474497 | ENG | c.1350G>T (p.Pro450=) c.1896G>T (p.Pro632=) c.*154G>T (n.*154G>T) | |
| 9 | g.127815763C= | CA1879981330 | ENG | c.1350G= (p.Pro450=) c.1896G= (p.Pro632=) c.*154G= (n.*154G=) | |
| 9 | g.127815763C>G | CA467474498 | ENG | c.1350G>C (p.Pro450=) c.1896G>C (p.Pro632=) c.*154G>C (n.*154G>C) | dbSNP gnomAD v4 |
| 9 | g.127815763C>T | CA467474500 | ENG | c.1350G>A (p.Pro450=) c.1896G>A (p.Pro632=) c.*154G>A (n.*154G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127815764G>A | CA5252586 | ENG | c.1349C>T (p.Pro450Leu) c.1895C>T (p.Pro632Leu) c.*153C>T (n.*153C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127815764G>C | CA374970424 | ENG | c.1349C>G (p.Pro450Arg) c.1895C>G (p.Pro632Arg) c.*153C>G (n.*153C>G) | gnomAD v4 |
| 9 | g.127815764G= | CA1879981337 | ENG | c.1349C= (p.Pro450=) c.1895C= (p.Pro632=) c.*153C= (n.*153C=) | |
| 9 | g.127815764G>T | CA200301189 | ENG | c.1349C>A (p.Pro450Gln) c.1895C>A (p.Pro632Gln) c.*153C>A (n.*153C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127815767del | CA2691805743 | ENG | c.1349del (p.Pro450ArgfsTer?) c.1895del (p.Pro632ArgfsTer?) c.*153del (n.*153del) | gnomAD v4 |
| 9 | g.127815765G>A | CA374970439 | ENG | c.1348C>T (p.Pro450Ser) c.1894C>T (p.Pro632Ser) c.*152C>T (n.*152C>T) | gnomAD v4 |
| 9 | g.127815765G>C | CA374970434 | ENG | c.1348C>G (p.Pro450Ala) c.1894C>G (p.Pro632Ala) c.*152C>G (n.*152C>G) | gnomAD v4 |
| 9 | g.127815765G>T | CA374970429 | ENG | c.1348C>A (p.Pro450Thr) c.1894C>A (p.Pro632Thr) c.*152C>A (n.*152C>A) | gnomAD v4 |
| 9 | g.127815766G>A | CA467474507 | ENG | c.1347C>T (p.Ala449=) c.1893C>T (p.Ala631=) c.*151C>T (n.*151C>T) | gnomAD v4 |
| 9 | g.127815766G>C | CA467474503 | ENG | c.1347C>G (p.Ala449=) c.1893C>G (p.Ala631=) c.*151C>G (n.*151C>G) | |
| 9 | g.127815766G>T | CA467474505 | ENG | c.1347C>A (p.Ala449=) c.1893C>A (p.Ala631=) c.*151C>A (n.*151C>A) | gnomAD v4 |
| 9 | g.127815766_127815767insTGGCGGTGGCTGCCCCGGCCTCCTCGGAGA | CA2840533198 | ENG | c.1346_1347insTCTCCGAGGAGGCCGGGGCAGCCACCGCCA (p.Ala449_Pro450insLeuArgGlyGlyArgGlySerHisArgHis) c.1892_1893insTCTCCGAGGAGGCCGGGGCAGCCACCGCCA (p.Ala631_Pro632insLeuArgGlyGlyArgGlySerHisArgHis) c.*150_*151insTCTCCGAGGAGGCCGGGGCAGCCACCGCCA (n.*150_*151insTCTCCGAGGAGGCCGGGGCAGCCACCGCCA) | |
| 9 | g.127815767G>A | CA374970440 | ENG | c.1346C>T (p.Ala449Val) c.1892C>T (p.Ala631Val) c.*150C>T (n.*150C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127815767G>C | CA374970442 | ENG | c.1346C>G (p.Ala449Gly) c.1892C>G (p.Ala631Gly) c.*150C>G (n.*150C>G) | |
| 9 | g.127815767G= | CA1879981343 | ENG | c.1346C= (p.Ala449=) c.1892C= (p.Ala631=) c.*150C= (n.*150C=) | |
| 9 | g.127815767G>T | CA374970448 | ENG | c.1346C>A (p.Ala449Asp) c.1892C>A (p.Ala631Asp) c.*150C>A (n.*150C>A) | gnomAD v4 |
| 9 | g.127815768C>A | CA374970477 | ENG | c.1345G>T (p.Ala449Ser) c.1891G>T (p.Ala631Ser) c.*149G>T (n.*149G>T) | gnomAD v4 |
| 9 | g.127815768C= | CA1879981346 | ENG | c.1345G= (p.Ala449=) c.1891G= (p.Ala631=) c.*149G= (n.*149G=) | |
| 9 | g.127815768C>G | CA374970491 | ENG | c.1345G>C (p.Ala449Pro) c.1891G>C (p.Ala631Pro) c.*149G>C (n.*149G>C) | |
| 9 | g.127815768C>T | CA374970497 | ENG | c.1345G>A (p.Ala449Thr) c.1891G>A (p.Ala631Thr) c.*149G>A (n.*149G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127815769A= | CA1879981349 | ENG | c.1344T= (p.Ala448=) c.1890T= (p.Ala630=) c.*148T= (n.*148T=) | |
| 9 | g.127815769A>C | CA467474515 | ENG | c.1344T>G (p.Ala448=) c.1890T>G (p.Ala630=) c.*148T>G (n.*148T>G) | ClinVar |
| 9 | g.127815769A>G | CA467474512 | ENG | c.1344T>C (p.Ala448=) c.1890T>C (p.Ala630=) c.*148T>C (n.*148T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127815769A>T | CA467474510 | ENG | c.1344T>A (p.Ala448=) c.1890T>A (p.Ala630=) c.*148T>A (n.*148T>A) | |
| 9 | g.127815770G>A | CA374970500 | ENG | c.1343C>T (p.Ala448Val) c.1889C>T (p.Ala630Val) c.*147C>T (n.*147C>T) | gnomAD v4 |
| 9 | g.127815770G>C | CA374970503 | ENG | c.1343C>G (p.Ala448Gly) c.1889C>G (p.Ala630Gly) c.*147C>G (n.*147C>G) | |
| 9 | g.127815770G= | CA1879981353 | ENG | c.1343C= (p.Ala448=) c.1889C= (p.Ala630=) c.*147C= (n.*147C=) | |
| 9 | g.127815770G>T | CA374970508 | ENG | c.1343C>A (p.Ala448Asp) c.1889C>A (p.Ala630Asp) c.*147C>A (n.*147C>A) | gnomAD v4 |
| 9 | g.127815771C>A | CA374970523 | ENG | c.1342G>T (p.Ala448Ser) c.1888G>T (p.Ala630Ser) c.*146G>T (n.*146G>T) | gnomAD v4 |
| 9 | g.127815771C>G | CA374970528 | ENG | c.1342G>C (p.Ala448Pro) c.1888G>C (p.Ala630Pro) c.*146G>C (n.*146G>C) | |
| 9 | g.127815771C>T | CA374970529 | ENG | c.1342G>A (p.Ala448Thr) c.1888G>A (p.Ala630Thr) c.*146G>A (n.*146G>A) | gnomAD v4 |
| 9 | g.127815771_127815772del | CA2840533199 | ENG | c.1341_1342del (p.Ala448CysfsTer?) c.1887_1888del (p.Ala630CysfsTer?) c.*145_*146del (n.*145_*146del) | |
| 9 | g.127815772dup | CA200301190 | ENG | c.1342dup (p.Ala448GlyfsTer?) c.1888dup (p.Ala630GlyfsTer?) c.*146dup (n.*146dup) | dbSNP |
| 9 | g.127815772C>A | CA467474523 | ENG | c.1341G>T (p.Val447=) c.1887G>T (p.Val629=) c.*145G>T (n.*145G>T) | gnomAD v4 |
| 9 | g.127815772C= | CA1879981366 | ENG | c.1341G= (p.Val447=) c.1887G= (p.Val629=) c.*145G= (n.*145G=) | |
| 9 | g.127815772C>G | CA467474525 | ENG | c.1341G>C (p.Val447=) c.1887G>C (p.Val629=) c.*145G>C (n.*145G>C) | |
| 9 | g.127815772C>T | CA467474524 | ENG | c.1341G>A (p.Val447=) c.1887G>A (p.Val629=) c.*145G>A (n.*145G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127815773A>C | CA374970535 | ENG | c.1340T>G (p.Val447Gly) c.1886T>G (p.Val629Gly) c.*144T>G (n.*144T>G) | |
| 9 | g.127815773A>G | CA374970536 | ENG | c.1340T>C (p.Val447Ala) c.1886T>C (p.Val629Ala) c.*144T>C (n.*144T>C) | |
| 9 | g.127815773A>T | CA374970530 | ENG | c.1340T>A (p.Val447Glu) c.1886T>A (p.Val629Glu) c.*144T>A (n.*144T>A) | |
| 9 | g.127815774C>A | CA374970537 | ENG | c.1339G>T (p.Val447Leu) c.1885G>T (p.Val629Leu) c.*143G>T (n.*143G>T) | gnomAD v4 |
| 9 | g.127815774C>G | CA374970538 | ENG | c.1339G>C (p.Val447Leu) c.1885G>C (p.Val629Leu) c.*143G>C (n.*143G>C) | |
| 9 | g.127815774C>T | CA374970540 | ENG | c.1339G>A (p.Val447Met) c.1885G>A (p.Val629Met) c.*143G>A (n.*143G>A) | |
| 9 | g.127815775C>A | CA467474530 | ENG | c.1338G>T (p.Ala446=) c.1884G>T (p.Ala628=) c.*142G>T (n.*142G>T) | |
| 9 | g.127815775C= | CA1879981371 | ENG | c.1338G= (p.Ala446=) c.1884G= (p.Ala628=) c.*142G= (n.*142G=) | |
| 9 | g.127815775C>G | CA467474531 | ENG | c.1338G>C (p.Ala446=) c.1884G>C (p.Ala628=) c.*142G>C (n.*142G>C) | |
| 9 | g.127815775C>T | CA5252587 | ENG | c.1338G>A (p.Ala446=) c.1884G>A (p.Ala628=) c.*142G>A (n.*142G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127815776G>A | CA5252588 | ENG | c.1337C>T (p.Ala446Val) c.1883C>T (p.Ala628Val) c.*141C>T (n.*141C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127815776G>C | CA374970585 | ENG | c.1337C>G (p.Ala446Gly) c.1883C>G (p.Ala628Gly) c.*141C>G (n.*141C>G) | |
| 9 | g.127815776G= | CA1879981377 | ENG | c.1337C= (p.Ala446=) c.1883C= (p.Ala628=) c.*141C= (n.*141C=) | |
| 9 | g.127815776G>T | CA374970593 | ENG | c.1337C>A (p.Ala446Glu) c.1883C>A (p.Ala628Glu) c.*141C>A (n.*141C>A) | gnomAD v4 |
| 9 | g.127815777C>A | CA374970599 | ENG | c.1336G>T (p.Ala446Ser) c.1882G>T (p.Ala628Ser) c.*140G>T (n.*140G>T) | |
| 9 | g.127815777C= | CA1879981382 | ENG | c.1336G= (p.Ala446=) c.1882G= (p.Ala628=) c.*140G= (n.*140G=) | |
| 9 | g.127815777C>G | CA374970600 | ENG | c.1336G>C (p.Ala446Pro) c.1882G>C (p.Ala628Pro) c.*140G>C (n.*140G>C) | |
| 9 | g.127815777C>T | CA374970601 | ENG | c.1336G>A (p.Ala446Thr) c.1882G>A (p.Ala628Thr) c.*140G>A (n.*140G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127815778del | CA2840533200 | ENG | c.1336del (p.Ala446ArgfsTer?) c.1882del (p.Ala628ArgfsTer?) c.*140del (n.*140del) | |
| 9 | g.127815778C>A | CA467474534 | ENG | c.1335G>T (p.Val445=) c.1881G>T (p.Val627=) c.*139G>T (n.*139G>T) | |
| 9 | g.127815778C= | CA1879981384 | ENG | c.1335G= (p.Val445=) c.1881G= (p.Val627=) c.*139G= (n.*139G=) | |
| 9 | g.127815778C>G | CA467474535 | ENG | c.1335G>C (p.Val445=) c.1881G>C (p.Val627=) c.*139G>C (n.*139G>C) | |
| 9 | g.127815778C>T | CA5252589 | ENG | c.1335G>A (p.Val445=) c.1881G>A (p.Val627=) c.*139G>A (n.*139G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127815779A= | CA1879981386 | ENG | c.1334T= (p.Val445=) c.1880T= (p.Val627=) c.*138T= (n.*138T=) | |
| 9 | g.127815779A>C | CA374970618 | ENG | c.1334T>G (p.Val445Gly) c.1880T>G (p.Val627Gly) c.*138T>G (n.*138T>G) | |
| 9 | g.127815779A>G | CA374970606 | ENG | c.1334T>C (p.Val445Ala) c.1880T>C (p.Val627Ala) c.*138T>C (n.*138T>C) | dbSNP gnomAD v4 |
| 9 | g.127815779A>T | CA374970603 | ENG | c.1334T>A (p.Val445Glu) c.1880T>A (p.Val627Glu) c.*138T>A (n.*138T>A) | |
| 9 | g.127815780C>A | CA374970622 | ENG | c.1333G>T (p.Val445Leu) c.1879G>T (p.Val627Leu) c.*137G>T (n.*137G>T) | |
| 9 | g.127815780C>G | CA374970629 | ENG | c.1333G>C (p.Val445Leu) c.1879G>C (p.Val627Leu) c.*137G>C (n.*137G>C) | |
| 9 | g.127815780C>T | CA374970633 | ENG | c.1333G>A (p.Val445Met) c.1879G>A (p.Val627Met) c.*137G>A (n.*137G>A) | gnomAD v4 |
| 9 | g.127815781C>A | CA467474541 | ENG | c.1332G>T (p.Val444=) c.1878G>T (p.Val626=) c.*136G>T (n.*136G>T) | gnomAD v4 |
| 9 | g.127815781C>G | CA467474543 | ENG | c.1332G>C (p.Val444=) c.1878G>C (p.Val626=) c.*136G>C (n.*136G>C) | |
| 9 | g.127815781C>T | CA467474546 | ENG | c.1332G>A (p.Val444=) c.1878G>A (p.Val626=) c.*136G>A (n.*136G>A) | |
| 9 | g.127815782A= | CA1879981395 | ENG | c.1331T= (p.Val444=) c.1877T= (p.Val626=) c.*135T= (n.*135T=) | |
| 9 | g.127815782A>C | CA374970637 | ENG | c.1331T>G (p.Val444Gly) c.1877T>G (p.Val626Gly) c.*135T>G (n.*135T>G) | |
| 9 | g.127815782A>G | CA374970647 | ENG | c.1331T>C (p.Val444Ala) c.1877T>C (p.Val626Ala) c.*135T>C (n.*135T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127815782A>T | CA374970652 | ENG | c.1331T>A (p.Val444Glu) c.1877T>A (p.Val626Glu) c.*135T>A (n.*135T>A) | |
| 9 | g.127815783C>A | CA374970660 | ENG | c.1330G>T (p.Val444Leu) c.1876G>T (p.Val626Leu) c.*134G>T (n.*134G>T) | gnomAD v4 |
| 9 | g.127815783C= | CA1879981402 | ENG | c.1330G= (p.Val444=) c.1876G= (p.Val626=) c.*134G= (n.*134G=) | |
| 9 | g.127815783C>G | CA374970681 | ENG | c.1330G>C (p.Val444Leu) c.1876G>C (p.Val626Leu) c.*134G>C (n.*134G>C) | |
| 9 | g.127815783C>T | CA5252590 | ENG | c.1330G>A (p.Val444Met) c.1876G>A (p.Val626Met) c.*134G>A (n.*134G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127815784G>A | CA467474548 | ENG | c.1329C>T (p.Pro443=) c.1875C>T (p.Pro625=) c.*133C>T (n.*133C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127815784G>C | CA467474549 | ENG | c.1329C>G (p.Pro443=) c.1875C>G (p.Pro625=) c.*133C>G (n.*133C>G) | gnomAD v4 |
| 9 | g.127815784G= | CA1879981410 | ENG | c.1329C= (p.Pro443=) c.1875C= (p.Pro625=) c.*133C= (n.*133C=) | |
| 9 | g.127815784G>T | CA467474551 | ENG | c.1329C>A (p.Pro443=) c.1875C>A (p.Pro625=) c.*133C>A (n.*133C>A) | gnomAD v4 |
| 9 | g.127815785G>A | CA374970695 | ENG | c.1328C>T (p.Pro443Leu) c.1874C>T (p.Pro625Leu) c.*132C>T (n.*132C>T) | gnomAD v4 |
| 9 | g.127815785G>C | CA374970697 | ENG | c.1328C>G (p.Pro443Arg) c.1874C>G (p.Pro625Arg) c.*132C>G (n.*132C>G) | |
| 9 | g.127815785G>T | CA374970698 | ENG | c.1328C>A (p.Pro443His) c.1874C>A (p.Pro625His) c.*132C>A (n.*132C>A) | |
| 9 | g.127815786G>A | CA374970700 | ENG | c.1327C>T (p.Pro443Ser) c.1873C>T (p.Pro625Ser) c.*131C>T (n.*131C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127815786G>C | CA374970701 | ENG | c.1327C>G (p.Pro443Ala) c.1873C>G (p.Pro625Ala) c.*131C>G (n.*131C>G) | |
| 9 | g.127815786G= | CA1879981414 | ENG | c.1327C= (p.Pro443=) c.1873C= (p.Pro625=) c.*131C= (n.*131C=) | |
| 9 | g.127815786G>T | CA374970699 | ENG | c.1327C>A (p.Pro443Thr) c.1873C>A (p.Pro625Thr) c.*131C>A (n.*131C>A) | gnomAD v4 |
| 9 | g.127815787C>A | CA374970703 | ENG | c.1326G>T (p.Glu442Asp) c.1872G>T (p.Glu624Asp) c.*130G>T (n.*130G>T) | |
| 9 | g.127815787C>G | CA374970707 | ENG | c.1326G>C (p.Glu442Asp) c.1872G>C (p.Glu624Asp) c.*130G>C (n.*130G>C) | |
| 9 | g.127815787C>T | CA467474557 | ENG | c.1326G>A (p.Glu442=) c.1872G>A (p.Glu624=) c.*130G>A (n.*130G>A) | |
| 9 | g.127815788T>A | CA374970709 | ENG | c.1325A>T (p.Glu442Val) c.1871A>T (p.Glu624Val) c.*129A>T (n.*129A>T) | |
| 9 | g.127815788T>C | CA374970711 | ENG | c.1325A>G (p.Glu442Gly) c.1871A>G (p.Glu624Gly) c.*129A>G (n.*129A>G) | |
| 9 | g.127815788T>G | CA374970713 | ENG | c.1325A>C (p.Glu442Ala) c.1871A>C (p.Glu624Ala) c.*129A>C (n.*129A>C) | |
| 9 | g.127815789C>A | CA374970728 | ENG | c.1324G>T (p.Glu442Ter) c.1870G>T (p.Glu624Ter) c.*128G>T (n.*128G>T) | |
| 9 | g.127815789C= | CA1879981419 | ENG | c.1324G= (p.Glu442=) c.1870G= (p.Glu624=) c.*128G= (n.*128G=) | |
| 9 | g.127815789C>G | CA374970724 | ENG | c.1324G>C (p.Glu442Gln) c.1870G>C (p.Glu624Gln) c.*128G>C (n.*128G>C) | |
| 9 | g.127815789C>T | CA200301204 | ENG | c.1324G>A (p.Glu442Lys) c.1870G>A (p.Glu624Lys) c.*128G>A (n.*128G>A) | dbSNP |
| 9 | g.127815791del | CA2840533201 | ENG | c.1324del (p.Glu442SerfsTer?) c.1870del (p.Glu624SerfsTer?) c.*128del (n.*128del) | |
| 9 | g.127815790C>A | CA467474567 | ENG | c.1323G>T (p.Arg441=) c.1869G>T (p.Arg623=) c.*127G>T (n.*127G>T) | |
| 9 | g.127815790C>G | CA467474566 | ENG | c.1323G>C (p.Arg441=) c.1869G>C (p.Arg623=) c.*127G>C (n.*127G>C) | |
| 9 | g.127815790C>T | CA467474564 | ENG | c.1323G>A (p.Arg441=) c.1869G>A (p.Arg623=) c.*127G>A (n.*127G>A) | |
| 9 | g.127815791C>A | CA374970743 | ENG | c.1322G>T (p.Arg441Leu) c.1868G>T (p.Arg623Leu) c.*126G>T (n.*126G>T) | |
| 9 | g.127815791C= | CA1879981421 | ENG | c.1322G= (p.Arg441=) c.1868G= (p.Arg623=) c.*126G= (n.*126G=) | |
| 9 | g.127815791C>G | CA374970744 | ENG | c.1322G>C (p.Arg441Pro) c.1868G>C (p.Arg623Pro) c.*126G>C (n.*126G>C) | gnomAD v4 |
| 9 | g.127815791C>T | CA5252591 | ENG | c.1322G>A (p.Arg441Gln) c.1868G>A (p.Arg623Gln) c.*126G>A (n.*126G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.127815792G>A | CA374970770 | ENG | c.1321C>T (p.Arg441Trp) c.1867C>T (p.Arg623Trp) c.*125C>T (n.*125C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127815792G>C | CA374970771 | ENG | c.1321C>G (p.Arg441Gly) c.1867C>G (p.Arg623Gly) c.*125C>G (n.*125C>G) | |
| 9 | g.127815792G= | CA1879981423 | ENG | c.1321C= (p.Arg441=) c.1867C= (p.Arg623=) c.*125C= (n.*125C=) | |
| 9 | g.127815792G>T | CA467474577 | ENG | c.1321C>A (p.Arg441=) c.1867C>A (p.Arg623=) c.*125C>A (n.*125C>A) | gnomAD v4 |
| 9 | g.127815793C>A | CA200301212 | ENG | c.1320G>T (p.Lys440Asn) c.1866G>T (p.Lys622Asn) c.*124G>T (n.*124G>T) | dbSNP |
| 9 | g.127815793C= | CA1879981428 | ENG | c.1320G= (p.Lys440=) c.1866G= (p.Lys622=) c.*124G= (n.*124G=) | |
| 9 | g.127815793C>G | CA374970782 | ENG | c.1320G>C (p.Lys440Asn) c.1866G>C (p.Lys622Asn) c.*124G>C (n.*124G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127815793C>T | CA467474579 | ENG | c.1320G>A (p.Lys440=) c.1866G>A (p.Lys622=) c.*124G>A (n.*124G>A) | |
| 9 | g.127815794T>A | CA374970788 | ENG | c.1319A>T (p.Lys440Met) c.1865A>T (p.Lys622Met) c.*123A>T (n.*123A>T) | |
| 9 | g.127815794T>C | CA374970793 | ENG | c.1319A>G (p.Lys440Arg) c.1865A>G (p.Lys622Arg) c.*123A>G (n.*123A>G) | gnomAD v4 |
| 9 | g.127815794T>G | CA374970790 | ENG | c.1319A>C (p.Lys440Thr) c.1865A>C (p.Lys622Thr) c.*123A>C (n.*123A>C) | |
| 9 | g.127815795T>A | CA374970822 | ENG | c.1318A>T (p.Lys440Ter) c.1864A>T (p.Lys622Ter) c.*122A>T (n.*122A>T) | |
| 9 | g.127815795T>C | CA200301232 | ENG | c.1318A>G (p.Lys440Glu) c.1864A>G (p.Lys622Glu) c.*122A>G (n.*122A>G) | dbSNP |
| 9 | g.127815795T>G | CA374970838 | ENG | c.1318A>C (p.Lys440Gln) c.1864A>C (p.Lys622Gln) c.*122A>C (n.*122A>C) | |
| 9 | g.127815795T= | CA1879981431 | ENG | c.1318A= (p.Lys440=) c.1864A= (p.Lys622=) c.*122A= (n.*122A=) | |
| 9 | g.127815796G>A | CA467474594 | ENG | c.1317C>T (p.Ser439=) c.1863C>T (p.Ser621=) c.*121C>T (n.*121C>T) | |
| 9 | g.127815796G>C | CA374970839 | ENG | c.1317C>G (p.Ser439Arg) c.1863C>G (p.Ser621Arg) c.*121C>G (n.*121C>G) | dbSNP gnomAD v4 |
| 9 | g.127815796G= | CA1879981434 | ENG | c.1317C= (p.Ser439=) c.1863C= (p.Ser621=) c.*121C= (n.*121C=) | |
| 9 | g.127815796G>T | CA374970844 | ENG | c.1317C>A (p.Ser439Arg) c.1863C>A (p.Ser621Arg) c.*121C>A (n.*121C>A) | gnomAD v4 |
| 9 | g.127815797C>A | CA374970845 | ENG | c.1316G>T (p.Ser439Ile) c.1862G>T (p.Ser621Ile) c.*120G>T (n.*120G>T) | gnomAD v4 |
| 9 | g.127815797C= | CA1879981440 | ENG | c.1316G= (p.Ser439=) c.1862G= (p.Ser621=) c.*120G= (n.*120G=) | |
| 9 | g.127815797C>G | CA374970846 | ENG | c.1316G>C (p.Ser439Thr) c.1862G>C (p.Ser621Thr) c.*120G>C (n.*120G>C) | |
| 9 | g.127815797C>T | CA374970847 | ENG | c.1316G>A (p.Ser439Asn) c.1862G>A (p.Ser621Asn) c.*120G>A (n.*120G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127815798T>A | CA374970855 | ENG | c.1315A>T (p.Ser439Cys) c.1861A>T (p.Ser621Cys) c.*119A>T (n.*119A>T) | |
| 9 | g.127815798T>C | CA374970856 | ENG | c.1315A>G (p.Ser439Gly) c.1861A>G (p.Ser621Gly) c.*119A>G (n.*119A>G) | |
| 9 | g.127815798T>G | CA374970857 | ENG | c.1315A>C (p.Ser439Arg) c.1861A>C (p.Ser621Arg) c.*119A>C (n.*119A>C) | |
| 9 | g.127815799G>A | CA467474601 | ENG | c.1314C>T (p.Pro438=) c.1860C>T (p.Pro620=) c.*118C>T (n.*118C>T) | |
| 9 | g.127815799G>C | CA5252592 | ENG | c.1314C>G (p.Pro438=) c.1860C>G (p.Pro620=) c.*118C>G (n.*118C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127815799G= | CA1879981447 | ENG | c.1314C= (p.Pro438=) c.1860C= (p.Pro620=) c.*118C= (n.*118C=) | |
| 9 | g.127815799G>T | CA467474605 | ENG | c.1314C>A (p.Pro438=) c.1860C>A (p.Pro620=) c.*118C>A (n.*118C>A) | ClinVar gnomAD v4 |
| 9 | g.127815803dup | CA2785996497 | ENG | c.1314dup (p.Ser439GlnfsTer?) c.1860dup (p.Ser621GlnfsTer?) c.*118dup (n.*118dup) | |
| 9 | g.127815803del | CA2691805744 | ENG | c.1314del (p.Ser439AlafsTer?) c.1860del (p.Ser621AlafsTer?) c.*118del (n.*118del) | gnomAD v4 |
| 9 | g.127815800G>A | CA374970861 | ENG | c.1313C>T (p.Pro438Leu) c.1859C>T (p.Pro620Leu) c.*117C>T (n.*117C>T) | |
| 9 | g.127815800G>C | CA374970878 | ENG | c.1313C>G (p.Pro438Arg) c.1859C>G (p.Pro620Arg) c.*117C>G (n.*117C>G) | |
| 9 | g.127815800G>T | CA374970872 | ENG | c.1313C>A (p.Pro438His) c.1859C>A (p.Pro620His) c.*117C>A (n.*117C>A) | |
| 9 | g.127815801G>A | CA374970886 | ENG | c.1312C>T (p.Pro438Ser) c.1858C>T (p.Pro620Ser) c.*116C>T (n.*116C>T) | |
| 9 | g.127815801G>C | CA374970890 | ENG | c.1312C>G (p.Pro438Ala) c.1858C>G (p.Pro620Ala) c.*116C>G (n.*116C>G) | |
| 9 | g.127815801G>T | CA374970891 | ENG | c.1312C>A (p.Pro438Thr) c.1858C>A (p.Pro620Thr) c.*116C>A (n.*116C>A) | |
| 9 | g.127815802G>A | CA467474613 | ENG | c.1311C>T (p.Ser437=) c.1857C>T (p.Ser619=) c.*115C>T (n.*115C>T) | gnomAD v4 |
| 9 | g.127815802G>C | CA467474615 | ENG | c.1311C>G (p.Ser437=) c.1857C>G (p.Ser619=) c.*115C>G (n.*115C>G) | |
| 9 | g.127815802G>T | CA467474616 | ENG | c.1311C>A (p.Ser437=) c.1857C>A (p.Ser619=) c.*115C>A (n.*115C>A) | ClinVar |
| 9 | g.127815803G>A | CA374970892 | ENG | c.1310C>T (p.Ser437Phe) c.1856C>T (p.Ser619Phe) c.*114C>T (n.*114C>T) | |
| 9 | g.127815803G>C | CA374970895 | ENG | c.1310C>G (p.Ser437Cys) c.1856C>G (p.Ser619Cys) c.*114C>G (n.*114C>G) | |
| 9 | g.127815803G= | CA1879981450 | ENG | c.1310C= (p.Ser437=) c.1856C= (p.Ser619=) c.*114C= (n.*114C=) | |
| 9 | g.127815803G>T | CA374970901 | ENG | c.1310C>A (p.Ser437Tyr) c.1856C>A (p.Ser619Tyr) c.*114C>A (n.*114C>A) | dbSNP gnomAD v4 |
| 9 | g.127815804A= | CA1879981454 | ENG | c.1309T= (p.Ser437=) c.1855T= (p.Ser619=) c.*113T= (n.*113T=) | |
| 9 | g.127815804A>C | CA374970902 | ENG | c.1309T>G (p.Ser437Ala) c.1855T>G (p.Ser619Ala) c.*113T>G (n.*113T>G) | |
| 9 | g.127815804A>G | CA374970903 | ENG | c.1309T>C (p.Ser437Pro) c.1855T>C (p.Ser619Pro) c.*113T>C (n.*113T>C) | |
| 9 | g.127815804A>T | CA200301236 | ENG | c.1309T>A (p.Ser437Thr) c.1855T>A (p.Ser619Thr) c.*113T>A (n.*113T>A) | dbSNP |
| 9 | g.127815805A>C | CA467474624 | ENG | c.1308T>G (p.Arg436=) c.1854T>G (p.Arg618=) c.*112T>G (n.*112T>G) | |
| 9 | g.127815805A>G | CA467474627 | ENG | c.1308T>C (p.Arg436=) c.1854T>C (p.Arg618=) c.*112T>C (n.*112T>C) | |
| 9 | g.127815805A>T | CA467474630 | ENG | c.1308T>A (p.Arg436=) c.1854T>A (p.Arg618=) c.*112T>A (n.*112T>A) | gnomAD v4 |
| 9 | g.127815806C>A | CA374970924 | ENG | c.1307G>T (p.Arg436Leu) c.1853G>T (p.Arg618Leu) c.*111G>T (n.*111G>T) | ClinVar dbSNP |
| 9 | g.127815806C= | CA1879981462 | ENG | c.1307G= (p.Arg436=) c.1853G= (p.Arg618=) c.*111G= (n.*111G=) | |
| 9 | g.127815806C>G | CA374970925 | ENG | c.1307G>C (p.Arg436Pro) c.1853G>C (p.Arg618Pro) c.*111G>C (n.*111G>C) | |
| 9 | g.127815806C>T | CA374970927 | ENG | c.1307G>A (p.Arg436His) c.1853G>A (p.Arg618His) c.*111G>A (n.*111G>A) | |
| 9 | g.127815807del | CA2691805745 | ENG | c.1307del c.1853del c.*111del (n.*111del) | gnomAD v4 |
| 9 | g.127815806_127815807insGCGTGTGCGAGTAGATGTACCAGAGTGCAG | CA2720709124 | ENG | c.1307-1_1307insCTGCACTCTGGTACATCTACTCGCACACGC (n.1307-1_1307insCTGCACTCTGGTACATCTACTCGCACACGC) c.1853-1_1853insCTGCACTCTGGTACATCTACTCGCACACGC (n.1853-1_1853insCTGCACTCTGGTACATCTACTCGCACACGC) c.*110_*111insCTGCACTCTGGTACATCTACTCGCACACGC (n.*110_*111insCTGCACTCTGGTACATCTACTCGCACACGC) | dbSNP |
| 9 | g.127815807C>A | CA374970944 | ENG | c.1307-1G>T (n.1307-1G>T) c.1853-1G>T (n.1853-1G>T) c.*110G>T (n.*110G>T) | gnomAD v4 |
| 9 | g.127815807C>G | CA374970933 | ENG | c.1307-1G>C (n.1307-1G>C) c.1853-1G>C (n.1853-1G>C) c.*110G>C (n.*110G>C) | dbSNP |
| 9 | g.127815807C>T | CA374970930 | ENG | c.1307-1G>A (n.1307-1G>A) c.1853-1G>A (n.1853-1G>A) c.*110G>A (n.*110G>A) | |
| 9 | g.127815808T>A | CA374970950 | ENG | c.1307-2A>T (n.1307-2A>T) c.1853-2A>T (n.1853-2A>T) c.*109A>T (n.*109A>T) | dbSNP |
| 9 | g.127815808T>C | CA374970964 | ENG | c.1307-2A>G (n.1307-2A>G) c.1853-2A>G (n.1853-2A>G) c.*109A>G (n.*109A>G) | dbSNP |
| 9 | g.127815808T>G | CA374970984 | ENG | c.1307-2A>C (n.1307-2A>C) c.1853-2A>C (n.1853-2A>C) c.*109A>C (n.*109A>C) | |
| 9 | g.127815808delinsGGGAGC | CA2695211202 | ENG | c.1307-2delinsGCTCCC (n.1307-2delinsGCTCCC) c.1853-2delinsGCTCCC (n.1853-2delinsGCTCCC) c.*109delinsGCTCCC (n.*109delinsGCTCCC) | |
| 9 | g.127815808_127815813dup | CA2691805746 | ENG | c.1307-7_1307-2dup (n.1307-7_1307-2dup) c.1853-7_1853-2dup (n.1853-7_1853-2dup) c.*104_*109dup (n.*104_*109dup) | gnomAD v4 |
| 9 | g.127815808_127815820delinsTGGGAGCGGGAGC | CA1879981467 | ENG | c.1307-14_1307-2delinsGCTCCCGCTCCCA (n.1307-14_1307-2delinsGCTCCCGCTCCCA) c.1853-14_1853-2delinsGCTCCCGCTCCCA (n.1853-14_1853-2delinsGCTCCCGCTCCCA) c.*97_*109delinsGCTCCCGCTCCCA (n.*97_*109delinsGCTCCCGCTCCCA) | |
| 9 | g.127815809G>A | CA2691805748 | ENG | c.1307-3C>T (n.1307-3C>T) c.1853-3C>T (n.1853-3C>T) c.*108C>T (n.*108C>T) | gnomAD v4 |
| 9 | g.127815809G>T | CA2840000043 | ENG | c.1307-3C>A (n.1307-3C>A) c.1853-3C>A (n.1853-3C>A) c.*108C>A (n.*108C>A) | |
| 9 | g.127815811del | CA2691805747 | ENG | c.1307-3del (n.1307-3del) c.1853-3del (n.1853-3del) c.*108del (n.*108del) | gnomAD v4 |
| 9 | g.127815818_127815823dup | CA5252593 | ENG | c.1307-8_1307-3dup (n.1307-8_1307-3dup) c.1853-8_1853-3dup (n.1853-8_1853-3dup) c.*103_*108dup (n.*103_*108dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127815812_127815823dup | CA2579461220 | ENG | c.1307-14_1307-3dup (n.1307-14_1307-3dup) c.1853-14_1853-3dup (n.1853-14_1853-3dup) c.*97_*108dup (n.*97_*108dup) | gnomAD v4 |
| 9 | g.127815818_127815823del | CA5252594 | ENG | c.1307-8_1307-3del (n.1307-8_1307-3del) c.1853-8_1853-3del (n.1853-8_1853-3del) c.*103_*108del (n.*103_*108del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127815812_127815823del | CA1879981471 | ENG | c.1307-14_1307-3del (n.1307-14_1307-3del) c.1853-14_1853-3del (n.1853-14_1853-3del) c.*97_*108del (n.*97_*108del) | dbSNP gnomAD v4 |
| 9 | g.127815810G>A | CA2691805749 | ENG | c.1307-4C>T (n.1307-4C>T) c.1853-4C>T (n.1853-4C>T) c.*107C>T (n.*107C>T) | gnomAD v4 |
| 9 | g.127815810G>T | CA2720709519 | ENG | c.1307-4C>A (n.1307-4C>A) c.1853-4C>A (n.1853-4C>A) c.*107C>A (n.*107C>A) | dbSNP |
| 9 | g.127815811G>A | CA1129273255 | ENG | c.1307-5C>T (n.1307-5C>T) c.1853-5C>T (n.1853-5C>T) c.*106C>T (n.*106C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127815811G= | CA1879981476 | ENG | c.1307-5C= (n.1307-5C=) c.1853-5C= (n.1853-5C=) c.*106C= (n.*106C=) | |
| 9 | g.127815811G>T | CA2691805750 | ENG | c.1307-5C>A (n.1307-5C>A) c.1853-5C>A (n.1853-5C>A) c.*106C>A (n.*106C>A) | gnomAD v4 |
| 9 | g.127815812A>G | CA2840533202 | ENG | c.1307-6T>C (n.1307-6T>C) c.1853-6T>C (n.1853-6T>C) c.*105T>C (n.*105T>C) | |
| 9 | g.127815812A>T | CA2720709527 | ENG | c.1307-6T>A (n.1307-6T>A) c.1853-6T>A (n.1853-6T>A) c.*105T>A (n.*105T>A) | dbSNP |
| 9 | g.127815814C>A | CA2691805751 | ENG | c.1307-8G>T (n.1307-8G>T) c.1853-8G>T (n.1853-8G>T) c.*103G>T (n.*103G>T) | gnomAD v4 |
| 9 | g.127815814C= | CA1879981478 | ENG | c.1307-8G= (n.1307-8G=) c.1853-8G= (n.1853-8G=) c.*103G= (n.*103G=) | |
| 9 | g.127815814C>T | CA590939357 | ENG | c.1307-8G>A (n.1307-8G>A) c.1853-8G>A (n.1853-8G>A) c.*103G>A (n.*103G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127815815G>A | CA5252595 | ENG | c.1307-9C>T (n.1307-9C>T) c.1853-9C>T (n.1853-9C>T) c.*102C>T (n.*102C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127815815G= | CA1879981484 | ENG | c.1307-9C= (n.1307-9C=) c.1853-9C= (n.1853-9C=) c.*102C= (n.*102C=) | |
| 9 | g.127815816G>A | CA2720709702 | ENG | c.1307-10C>T (n.1307-10C>T) c.1853-10C>T (n.1853-10C>T) c.*101C>T (n.*101C>T) | dbSNP |
| 9 | g.127815816G>C | CA2838679217 | ENG | c.1307-10C>G (n.1307-10C>G) c.1853-10C>G (n.1853-10C>G) c.*101C>G (n.*101C>G) | |
| 9 | g.127815816G>T | CA2691805753 | ENG | c.1307-10C>A (n.1307-10C>A) c.1853-10C>A (n.1853-10C>A) c.*101C>A (n.*101C>A) | gnomAD v4 |
| 9 | g.127815818_127815829del | CA2691805752 | ENG | c.1307-21_1307-10del (n.1307-21_1307-10del) c.1853-21_1853-10del (n.1853-21_1853-10del) c.*90_*101del (n.*90_*101del) | gnomAD v4 |
| 9 | g.127815817G>A | CA2691805754 | ENG | c.1307-11C>T (n.1307-11C>T) c.1853-11C>T (n.1853-11C>T) c.*100C>T (n.*100C>T) | gnomAD v4 |
| 9 | g.127815817G>T | CA2691805755 | ENG | c.1307-11C>A (n.1307-11C>A) c.1853-11C>A (n.1853-11C>A) c.*100C>A (n.*100C>A) | gnomAD v4 |
| 9 | g.127815817_127815818insTAGATGTACC | CA2720709711 | ENG | c.1307-12_1307-11insGGTACATCTA (n.1307-12_1307-11insGGTACATCTA) c.1853-12_1853-11insGGTACATCTA (n.1853-12_1853-11insGGTACATCTA) c.*99_*100insGGTACATCTA (n.*99_*100insGGTACATCTA) | dbSNP |
| 9 | g.127815818A= | CA1879981493 | ENG | c.1307-12T= (n.1307-12T=) c.1853-12T= (n.1853-12T=) c.*99T= (n.*99T=) | |
| 9 | g.127815818A>C | CA200301289 | ENG | c.1307-12T>G (n.1307-12T>G) c.1853-12T>G (n.1853-12T>G) c.*99T>G (n.*99T>G) | dbSNP gnomAD v4 |
| 9 | g.127815819G>A | CA200301302 | ENG | c.1307-13C>T (n.1307-13C>T) c.1853-13C>T (n.1853-13C>T) c.*98C>T (n.*98C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127815819G= | CA1879981495 | ENG | c.1307-13C= (n.1307-13C=) c.1853-13C= (n.1853-13C=) c.*98C= (n.*98C=) | |
| 9 | g.127815820C>A | CA590939358 | ENG | c.1307-14G>T (n.1307-14G>T) c.1853-14G>T (n.1853-14G>T) c.*97G>T (n.*97G>T) | dbSNP gnomAD v2 |
| 9 | g.127815820C= | CA1879981500 | ENG | c.1307-14G= (n.1307-14G=) c.1853-14G= (n.1853-14G=) c.*97G= (n.*97G=) | |
| 9 | g.127815820C>T | CA5252596 | ENG | c.1307-14G>A (n.1307-14G>A) c.1853-14G>A (n.1853-14G>A) c.*97G>A (n.*97G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127815821G>A | CA200301312 | ENG | c.1307-15C>T (n.1307-15C>T) c.1853-15C>T (n.1853-15C>T) c.*96C>T (n.*96C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127815821G= | CA1879981504 | ENG | c.1307-15C= (n.1307-15C=) c.1853-15C= (n.1853-15C=) c.*96C= (n.*96C=) | |
| 9 | g.127815821G>T | CA2556934641 | ENG | c.1307-15C>A (n.1307-15C>A) c.1853-15C>A (n.1853-15C>A) c.*96C>A (n.*96C>A) | gnomAD v4 |
| 9 | g.127815825dup | CA2832555250 | ENG | c.1307-15dup (n.1307-15dup) c.1853-15dup (n.1853-15dup) c.*96dup (n.*96dup) | |
| 9 | g.127815824_127815825dup | CA2691805756 | ENG | c.1307-16_1307-15dup (n.1307-16_1307-15dup) c.1853-16_1853-15dup (n.1853-16_1853-15dup) c.*95_*96dup (n.*95_*96dup) | gnomAD v4 |
| 9 | g.127815825del | CA2840533203 | ENG | c.1307-15del (n.1307-15del) c.1853-15del (n.1853-15del) c.*96del (n.*96del) | |
| 9 | g.127815821_127815827delinsGGGGGCA | CA1879981505 | ENG | c.1307-21_1307-15delinsTGCCCCC (n.1307-21_1307-15delinsTGCCCCC) c.1853-21_1853-15delinsTGCCCCC (n.1853-21_1853-15delinsTGCCCCC) c.*90_*96delinsTGCCCCC (n.*90_*96delinsTGCCCCC) | |
| 9 | g.127815822G>A | CA2785996510 | ENG | c.1307-16C>T (n.1307-16C>T) c.1853-16C>T (n.1853-16C>T) c.*95C>T (n.*95C>T) | |
| 9 | g.127815822G>T | CA2840000044 | ENG | c.1307-16C>A (n.1307-16C>A) c.1853-16C>A (n.1853-16C>A) c.*95C>A (n.*95C>A) | |
| 9 | g.127815827_127815832dup | CA2691805757 | ENG | c.1307-21_1307-16dup (n.1307-21_1307-16dup) c.1853-21_1853-16dup (n.1853-21_1853-16dup) c.*90_*95dup (n.*90_*95dup) | gnomAD v4 |
| 9 | g.127815827_127815832del | CA1879981506 | ENG | c.1307-21_1307-16del (n.1307-21_1307-16del) c.1853-21_1853-16del (n.1853-21_1853-16del) c.*90_*95del (n.*90_*95del) | dbSNP gnomAD v4 |
| 9 | g.127815823G>A | CA1879981508 | ENG | c.1307-17C>T (n.1307-17C>T) c.1853-17C>T (n.1853-17C>T) c.*94C>T (n.*94C>T) | dbSNP |
| 9 | g.127815823G= | CA1879981507 | ENG | c.1307-17C= (n.1307-17C=) c.1853-17C= (n.1853-17C=) c.*94C= (n.*94C=) | |
| 9 | g.127815823G>T | CA2840533204 | ENG | c.1307-17C>A (n.1307-17C>A) c.1853-17C>A (n.1853-17C>A) c.*94C>A (n.*94C>A) | |
| 9 | g.127815824G>A | CA200301314 | ENG | c.1307-18C>T (n.1307-18C>T) c.1853-18C>T (n.1853-18C>T) c.*93C>T (n.*93C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127815824G= | CA1879981511 | ENG | c.1307-18C= (n.1307-18C=) c.1853-18C= (n.1853-18C=) c.*93C= (n.*93C=) | |
| 9 | g.127815825G>A | CA2691805758 | ENG | c.1307-19C>T (n.1307-19C>T) c.1853-19C>T (n.1853-19C>T) c.*92C>T (n.*92C>T) | gnomAD v4 |
| 9 | g.127815825G>T | CA2840533205 | ENG | c.1307-19C>A (n.1307-19C>A) c.1853-19C>A (n.1853-19C>A) c.*92C>A (n.*92C>A) | |
| 9 | g.127815826del | CA2579461221 | ENG | c.1307-20del (n.1307-20del) c.1853-20del (n.1853-20del) c.*91del (n.*91del) | |
| 9 | g.127815826C>A | CA2691805759 | ENG | c.1307-20G>T (n.1307-20G>T) c.1853-20G>T (n.1853-20G>T) c.*91G>T (n.*91G>T) | gnomAD v4 |
| 9 | g.127815829G>A | CA200301316 | ENG | c.1307-23C>T (n.1307-23C>T) c.1853-23C>T (n.1853-23C>T) c.*88C>T (n.*88C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127815829G= | CA1879981514 | ENG | c.1307-23C= (n.1307-23C=) c.1853-23C= (n.1853-23C=) c.*88C= (n.*88C=) | |
| 9 | g.127815829G>T | CA2785996511 | ENG | c.1307-23C>A (n.1307-23C>A) c.1853-23C>A (n.1853-23C>A) c.*88C>A (n.*88C>A) | |
| 9 | g.127815830G>A | CA2691805760 | ENG | c.1307-24C>T (n.1307-24C>T) c.1853-24C>T (n.1853-24C>T) c.*87C>T (n.*87C>T) | gnomAD v4 |
| 9 | g.127815831G>A | CA200301319 | ENG | c.1307-25C>T (n.1307-25C>T) c.1853-25C>T (n.1853-25C>T) c.*86C>T (n.*86C>T) | dbSNP gnomAD v4 |
| 9 | g.127815831G= | CA1879981516 | ENG | c.1307-25C= (n.1307-25C=) c.1853-25C= (n.1853-25C=) c.*86C= (n.*86C=) | |
| 9 | g.127815831G>T | CA590939359 | ENG | c.1307-25C>A (n.1307-25C>A) c.1853-25C>A (n.1853-25C>A) c.*86C>A (n.*86C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127815832C>A | CA1879981527 | ENG | c.1307-26G>T (n.1307-26G>T) c.1853-26G>T (n.1853-26G>T) c.*85G>T (n.*85G>T) | dbSNP |
| 9 | g.127815832C= | CA1879981522 | ENG | c.1307-26G= (n.1307-26G=) c.1853-26G= (n.1853-26G=) c.*85G= (n.*85G=) | |
| 9 | g.127815832C>T | CA5252597 | ENG | c.1307-26G>A (n.1307-26G>A) c.1853-26G>A (n.1853-26G>A) c.*85G>A (n.*85G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127815833G>A | CA5252598 | ENG | c.1307-27C>T (n.1307-27C>T) c.1853-27C>T (n.1853-27C>T) c.*84C>T (n.*84C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127815833G= | CA1879981538 | ENG | c.1307-27C= (n.1307-27C=) c.1853-27C= (n.1853-27C=) c.*84C= (n.*84C=) | |
| 9 | g.127815833G>T | CA2691805761 | ENG | c.1307-27C>A (n.1307-27C>A) c.1853-27C>A (n.1853-27C>A) c.*84C>A (n.*84C>A) | gnomAD v4 |
| 9 | g.127815834G>T | CA2840533206 | ENG | c.1307-28C>A (n.1307-28C>A) c.1853-28C>A (n.1853-28C>A) c.*83C>A (n.*83C>A) | |
| 9 | g.127815835A= | CA1879981544 | ENG | c.1307-29T= (n.1307-29T=) c.1853-29T= (n.1853-29T=) c.*82T= (n.*82T=) | |
| 9 | g.127815836G>A | CA1879981553 | ENG | c.1307-30C>T (n.1307-30C>T) c.1853-30C>T (n.1853-30C>T) c.*81C>T (n.*81C>T) | dbSNP gnomAD v4 |
| 9 | g.127815836G= | CA1879981550 | ENG | c.1307-30C= (n.1307-30C=) c.1853-30C= (n.1853-30C=) c.*81C= (n.*81C=) | |
| 9 | g.127815836G>T | CA2691805762 | ENG | c.1307-30C>A (n.1307-30C>A) c.1853-30C>A (n.1853-30C>A) c.*81C>A (n.*81C>A) | gnomAD v4 |
| 9 | g.127815838_127815849dup | CA1879981547 | ENG | c.1307-41_1307-30dup (n.1307-41_1307-30dup) c.1853-41_1853-30dup (n.1853-41_1853-30dup) c.*70_*81dup (n.*70_*81dup) | dbSNP gnomAD v4 |