Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56836674A>C | CA395993191 | NUP93 | c.1856A>C (p.Lys619Thr) c.1487A>C (p.Lys496Thr) c.50A>C (p.Lys17Thr) | |
16 | g.56836674A>G | CA395993196 | NUP93 | c.1856A>G (p.Lys619Arg) c.1487A>G (p.Lys496Arg) c.50A>G (p.Lys17Arg) | |
16 | g.56836674A>T | CA395993194 | NUP93 | c.1856A>T (p.Lys619Ile) c.1487A>T (p.Lys496Ile) c.50A>T (p.Lys17Ile) | |
16 | g.56836675A= | CA2224333811 | NUP93 | c.1857A= (p.Lys619=) c.1488A= (p.Lys496=) c.51A= (p.Lys17=) | |
16 | g.56836675A>C | CA395993199 | NUP93 | c.1857A>C (p.Lys619Asn) c.1488A>C (p.Lys496Asn) c.51A>C (p.Lys17Asn) | |
16 | g.56836675A>G | CA281501830 | NUP93 | c.1857A>G (p.Lys619=) c.1488A>G (p.Lys496=) c.51A>G (p.Lys17=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56836675A>T | CA395993201 | NUP93 | c.1857A>T (p.Lys619Asn) c.1488A>T (p.Lys496Asn) c.51A>T (p.Lys17Asn) | |
16 | g.56836676G>A | CA395993204 | NUP93 | c.1858G>A (p.Gly620Arg) c.1489G>A (p.Gly497Arg) c.52G>A (p.Gly18Arg) | |
16 | g.56836676G>C | CA395993205 | NUP93 | c.1858G>C (p.Gly620Arg) c.1489G>C (p.Gly497Arg) c.52G>C (p.Gly18Arg) | |
16 | g.56836676G>T | CA395993206 | NUP93 | c.1858G>T (p.Gly620Ter) c.1489G>T (p.Gly497Ter) c.52G>T (p.Gly18Ter) | |
16 | g.56836677G>A | CA395993207 | NUP93 | c.1859G>A (p.Gly620Glu) c.1490G>A (p.Gly497Glu) c.53G>A (p.Gly18Glu) | |
16 | g.56836677G>C | CA395993208 | NUP93 | c.1859G>C (p.Gly620Ala) c.1490G>C (p.Gly497Ala) c.53G>C (p.Gly18Ala) | |
16 | g.56836677G>T | CA395993210 | NUP93 | c.1859G>T (p.Gly620Val) c.1490G>T (p.Gly497Val) c.53G>T (p.Gly18Val) | |
16 | g.56836678A>C | CA495602513 | NUP93 | c.1860A>C (p.Gly620=) c.1491A>C (p.Gly497=) c.54A>C (p.Gly18=) | |
16 | g.56836678A>G | CA495602514 | NUP93 | c.1860A>G (p.Gly620=) c.1491A>G (p.Gly497=) c.54A>G (p.Gly18=) | |
16 | g.56836678A>T | CA495602515 | NUP93 | c.1860A>T (p.Gly620=) c.1491A>T (p.Gly497=) c.54A>T (p.Gly18=) | |
16 | g.56836679C>A | CA395993211 | NUP93 | c.1861C>A (p.Leu621Met) c.1492C>A (p.Leu498Met) c.55C>A (p.Leu19Met) | |
16 | g.56836679C>G | CA395993213 | NUP93 | c.1861C>G (p.Leu621Val) c.1492C>G (p.Leu498Val) c.55C>G (p.Leu19Val) | |
16 | g.56836679C>T | CA495602516 | NUP93 | c.1861C>T (p.Leu621=) c.1492C>T (p.Leu498=) c.55C>T (p.Leu19=) | gnomAD v4 |
16 | g.56836680T>A | CA395993221 | NUP93 | c.1862T>A (p.Leu621Gln) c.1493T>A (p.Leu498Gln) c.56T>A (p.Leu19Gln) | |
16 | g.56836680T>C | CA395993218 | NUP93 | c.1862T>C (p.Leu621Pro) c.1493T>C (p.Leu498Pro) c.56T>C (p.Leu19Pro) | |
16 | g.56836680T>G | CA395993216 | NUP93 | c.1862T>G (p.Leu621Arg) c.1493T>G (p.Leu498Arg) c.56T>G (p.Leu19Arg) | |
16 | g.56836681G>A | CA495602517 | NUP93 | c.1863G>A (p.Leu621=) c.1494G>A (p.Leu498=) c.57G>A (p.Leu19=) | gnomAD v4 |
16 | g.56836681G>C | CA495602518 | NUP93 | c.1863G>C (p.Leu621=) c.1494G>C (p.Leu498=) c.57G>C (p.Leu19=) | gnomAD v4 |
16 | g.56836681G>T | CA495602519 | NUP93 | c.1863G>T (p.Leu621=) c.1494G>T (p.Leu498=) c.57G>T (p.Leu19=) | |
16 | g.56836682T>A | CA395993224 | NUP93 | c.1864T>A (p.Phe622Ile) c.1495T>A (p.Phe499Ile) c.58T>A (p.Phe20Ile) | |
16 | g.56836682T>C | CA395993226 | NUP93 | c.1864T>C (p.Phe622Leu) c.1495T>C (p.Phe499Leu) c.58T>C (p.Phe20Leu) | |
16 | g.56836682T>G | CA395993228 | NUP93 | c.1864T>G (p.Phe622Val) c.1495T>G (p.Phe499Val) c.58T>G (p.Phe20Val) | |
16 | g.56836683T>A | CA395993230 | NUP93 | c.1865T>A (p.Phe622Tyr) c.1496T>A (p.Phe499Tyr) c.59T>A (p.Phe20Tyr) | |
16 | g.56836683T>C | CA395993232 | NUP93 | c.1865T>C (p.Phe622Ser) c.1496T>C (p.Phe499Ser) c.59T>C (p.Phe20Ser) | dbSNP gnomAD v4 |
16 | g.56836683T>G | CA395993235 | NUP93 | c.1865T>G (p.Phe622Cys) c.1496T>G (p.Phe499Cys) c.59T>G (p.Phe20Cys) | |
16 | g.56836683T= | CA2224333812 | NUP93 | c.1865T= (p.Phe622=) c.1496T= (p.Phe499=) c.59T= (p.Phe20=) | |
16 | g.56836684T>A | CA395993236 | NUP93 | c.1866T>A (p.Phe622Leu) c.1497T>A (p.Phe499Leu) c.60T>A (p.Phe20Leu) | |
16 | g.56836684T>C | CA495602520 | NUP93 | c.1866T>C (p.Phe622=) c.1497T>C (p.Phe499=) c.60T>C (p.Phe20=) | |
16 | g.56836684T>G | CA395993239 | NUP93 | c.1866T>G (p.Phe622Leu) c.1497T>G (p.Phe499Leu) c.60T>G (p.Phe20Leu) | |
16 | g.56836685G>A | CA395993243 | NUP93 | c.1867G>A (p.Glu623Lys) c.1498G>A (p.Glu500Lys) c.61G>A (p.Glu21Lys) | |
16 | g.56836685G>C | CA395993245 | NUP93 | c.1867G>C (p.Glu623Gln) c.1498G>C (p.Glu500Gln) c.61G>C (p.Glu21Gln) | |
16 | g.56836685G>T | CA395993246 | NUP93 | c.1867G>T (p.Glu623Ter) c.1498G>T (p.Glu500Ter) c.61G>T (p.Glu21Ter) | gnomAD v4 |
16 | g.56836686A>C | CA395993249 | NUP93 | c.1868A>C (p.Glu623Ala) c.1499A>C (p.Glu500Ala) c.62A>C (p.Glu21Ala) | |
16 | g.56836686A>G | CA395993251 | NUP93 | c.1868A>G (p.Glu623Gly) c.1499A>G (p.Glu500Gly) c.62A>G (p.Glu21Gly) | |
16 | g.56836686A>T | CA395993255 | NUP93 | c.1868A>T (p.Glu623Val) c.1499A>T (p.Glu500Val) c.62A>T (p.Glu21Val) | |
16 | g.56836687A>C | CA395993258 | NUP93 | c.1869A>C (p.Glu623Asp) c.1500A>C (p.Glu500Asp) c.63A>C (p.Glu21Asp) | |
16 | g.56836687A>G | CA495602521 | NUP93 | c.1869A>G (p.Glu623=) c.1500A>G (p.Glu500=) c.63A>G (p.Glu21=) | |
16 | g.56836687A>T | CA395993259 | NUP93 | c.1869A>T (p.Glu623Asp) c.1500A>T (p.Glu500Asp) c.63A>T (p.Glu21Asp) | |
16 | g.56836688G>A | CA395993261 | NUP93 | c.1870G>A (p.Glu624Lys) c.1501G>A (p.Glu501Lys) c.64G>A (p.Glu22Lys) | gnomAD v4 |
16 | g.56836688G>C | CA395993264 | NUP93 | c.1870G>C (p.Glu624Gln) c.1501G>C (p.Glu501Gln) c.64G>C (p.Glu22Gln) | |
16 | g.56836688G>T | CA395993266 | NUP93 | c.1870G>T (p.Glu624Ter) c.1501G>T (p.Glu501Ter) c.64G>T (p.Glu22Ter) | |
16 | g.56836689A>C | CA395993270 | NUP93 | c.1871A>C (p.Glu624Ala) c.1502A>C (p.Glu501Ala) c.65A>C (p.Glu22Ala) | |
16 | g.56836689A>G | CA395993272 | NUP93 | c.1871A>G (p.Glu624Gly) c.1502A>G (p.Glu501Gly) c.65A>G (p.Glu22Gly) | |
16 | g.56836689A>T | CA395993274 | NUP93 | c.1871A>T (p.Glu624Val) c.1502A>T (p.Glu501Val) c.65A>T (p.Glu22Val) | gnomAD v4 |
16 | g.56836690G>A | CA281501834 | NUP93 | c.1872G>A (p.Glu624=) c.1503G>A (p.Glu501=) c.66G>A (p.Glu22=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56836690G>C | CA395993278 | NUP93 | c.1872G>C (p.Glu624Asp) c.1503G>C (p.Glu501Asp) c.66G>C (p.Glu22Asp) | |
16 | g.56836690G= | CA2224333813 | NUP93 | c.1872G= (p.Glu624=) c.1503G= (p.Glu501=) c.66G= (p.Glu22=) | |
16 | g.56836690G>T | CA395993281 | NUP93 | c.1872G>T (p.Glu624Asp) c.1503G>T (p.Glu501Asp) c.66G>T (p.Glu22Asp) | |
16 | g.56836691G>A | CA395993284 | NUP93 | c.1873G>A (p.Ala625Thr) c.1504G>A (p.Ala502Thr) c.67G>A (p.Ala23Thr) | |
16 | g.56836691G>C | CA395993287 | NUP93 | c.1873G>C (p.Ala625Pro) c.1504G>C (p.Ala502Pro) c.67G>C (p.Ala23Pro) | |
16 | g.56836691G= | CA2224333814 | NUP93 | c.1873G= (p.Ala625=) c.1504G= (p.Ala502=) c.67G= (p.Ala23=) | |
16 | g.56836691G>T | CA8068571 | NUP93 | c.1873G>T (p.Ala625Ser) c.1504G>T (p.Ala502Ser) c.67G>T (p.Ala23Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56836692C>A | CA395993296 | NUP93 | c.1874C>A (p.Ala625Glu) c.1505C>A (p.Ala502Glu) c.68C>A (p.Ala23Glu) | |
16 | g.56836692C>G | CA395993291 | NUP93 | c.1874C>G (p.Ala625Gly) c.1505C>G (p.Ala502Gly) c.68C>G (p.Ala23Gly) | gnomAD v4 |
16 | g.56836692C>T | CA395993294 | NUP93 | c.1874C>T (p.Ala625Val) c.1505C>T (p.Ala502Val) c.68C>T (p.Ala23Val) | |
16 | g.56836693A= | CA2224333815 | NUP93 | c.1875A= (p.Ala625=) c.1506A= (p.Ala502=) c.69A= (p.Ala23=) | |
16 | g.56836693A>C | CA495602522 | NUP93 | c.1875A>C (p.Ala625=) c.1506A>C (p.Ala502=) c.69A>C (p.Ala23=) | |
16 | g.56836693A>G | CA495602523 | NUP93 | c.1875A>G (p.Ala625=) c.1506A>G (p.Ala502=) c.69A>G (p.Ala23=) | dbSNP gnomAD v4 |
16 | g.56836693A>T | CA495602524 | NUP93 | c.1875A>T (p.Ala625=) c.1506A>T (p.Ala502=) c.69A>T (p.Ala23=) | |
16 | g.56836694G>A | CA8068572 | NUP93 | c.1876G>A (p.Ala626Thr) c.1507G>A (p.Ala503Thr) c.70G>A (p.Ala24Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56836694G>C | CA395993304 | NUP93 | c.1876G>C (p.Ala626Pro) c.1507G>C (p.Ala503Pro) c.70G>C (p.Ala24Pro) | |
16 | g.56836694G= | CA2224333816 | NUP93 | c.1876G= (p.Ala626=) c.1507G= (p.Ala503=) c.70G= (p.Ala24=) | |
16 | g.56836694G>T | CA395993301 | NUP93 | c.1876G>T (p.Ala626Ser) c.1507G>T (p.Ala503Ser) c.70G>T (p.Ala24Ser) | |
16 | g.56836695C>A | CA395993307 | NUP93 | c.1877C>A (p.Ala626Glu) c.1508C>A (p.Ala503Glu) c.71C>A (p.Ala24Glu) | |
16 | g.56836695C>G | CA395993311 | NUP93 | c.1877C>G (p.Ala626Gly) c.1508C>G (p.Ala503Gly) c.71C>G (p.Ala24Gly) | |
16 | g.56836695C>T | CA395993310 | NUP93 | c.1877C>T (p.Ala626Val) c.1508C>T (p.Ala503Val) c.71C>T (p.Ala24Val) | |
16 | g.56836696A>C | CA495602525 | NUP93 | c.1878A>C (p.Ala626=) c.1509A>C (p.Ala503=) c.72A>C (p.Ala24=) | |
16 | g.56836696A>G | CA495602526 | NUP93 | c.1878A>G (p.Ala626=) c.1509A>G (p.Ala503=) c.72A>G (p.Ala24=) | |
16 | g.56836696A>T | CA495602527 | NUP93 | c.1878A>T (p.Ala626=) c.1509A>T (p.Ala503=) c.72A>T (p.Ala24=) | |
16 | g.56836696_56836714delinsAAAGCTGTATGACCTTGCC | CA2224333817 | NUP93 | c.1878_1896delinsAAAGCTGTATGACCTTGCC (p.Ala626=) c.1509_1527delinsAAAGCTGTATGACCTTGCC (p.Ala503=) c.72_90delinsAAAGCTGTATGACCTTGCC (p.Ala24=) | |
16 | g.56836697A= | CA2224333818 | NUP93 | c.1879A= (p.Lys627=) c.1510A= (p.Lys504=) c.73A= (p.Lys25=) | |
16 | g.56836697A>C | CA395993315 | NUP93 | c.1879A>C (p.Lys627Gln) c.1510A>C (p.Lys504Gln) c.73A>C (p.Lys25Gln) | dbSNP |
16 | g.56836697A>G | CA395993317 | NUP93 | c.1879A>G (p.Lys627Glu) c.1510A>G (p.Lys504Glu) c.73A>G (p.Lys25Glu) | |
16 | g.56836697A>T | CA395993318 | NUP93 | c.1879A>T (p.Lys627Ter) c.1510A>T (p.Lys504Ter) c.73A>T (p.Lys25Ter) | |
16 | g.56836700_56836717del | CA8068573 | NUP93 | c.1882_1899del (p.Leu628_Lys633del) c.1513_1530del (p.Leu505_Lys510del) c.76_93del (p.Leu26_Lys31del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56836698A>C | CA395993319 | NUP93 | c.1880A>C (p.Lys627Thr) c.1511A>C (p.Lys504Thr) c.74A>C (p.Lys25Thr) | |
16 | g.56836698A>G | CA395993320 | NUP93 | c.1880A>G (p.Lys627Arg) c.1511A>G (p.Lys504Arg) c.74A>G (p.Lys25Arg) | |
16 | g.56836698A>T | CA395993322 | NUP93 | c.1880A>T (p.Lys627Met) c.1511A>T (p.Lys504Met) c.74A>T (p.Lys25Met) | |
16 | g.56836699G>A | CA495602528 | NUP93 | c.1881G>A (p.Lys627=) c.1512G>A (p.Lys504=) c.75G>A (p.Lys25=) | |
16 | g.56836699G>C | CA395993323 | NUP93 | c.1881G>C (p.Lys627Asn) c.1512G>C (p.Lys504Asn) c.75G>C (p.Lys25Asn) | |
16 | g.56836699G>T | CA395993324 | NUP93 | c.1881G>T (p.Lys627Asn) c.1512G>T (p.Lys504Asn) c.75G>T (p.Lys25Asn) | |
16 | g.56836700C>A | CA395993326 | NUP93 | c.1882C>A (p.Leu628Met) c.1513C>A (p.Leu505Met) c.76C>A (p.Leu26Met) | |
16 | g.56836700C>G | CA395993329 | NUP93 | c.1882C>G (p.Leu628Val) c.1513C>G (p.Leu505Val) c.76C>G (p.Leu26Val) | |
16 | g.56836700C>T | CA495602529 | NUP93 | c.1882C>T (p.Leu628=) c.1513C>T (p.Leu505=) c.76C>T (p.Leu26=) | |
16 | g.56836701T>A | CA395993334 | NUP93 | c.1883T>A (p.Leu628Gln) c.1514T>A (p.Leu505Gln) c.77T>A (p.Leu26Gln) | |
16 | g.56836701T>C | CA395993332 | NUP93 | c.1883T>C (p.Leu628Pro) c.1514T>C (p.Leu505Pro) c.77T>C (p.Leu26Pro) | gnomAD v4 |
16 | g.56836701T>G | CA395993331 | NUP93 | c.1883T>G (p.Leu628Arg) c.1514T>G (p.Leu505Arg) c.77T>G (p.Leu26Arg) | |
16 | g.56836702G>A | CA495602530 | NUP93 | c.1884G>A (p.Leu628=) c.1515G>A (p.Leu505=) c.78G>A (p.Leu26=) | |
16 | g.56836702G>C | CA495602531 | NUP93 | c.1884G>C (p.Leu628=) c.1515G>C (p.Leu505=) c.78G>C (p.Leu26=) | |
16 | g.56836702G= | CA2224333819 | NUP93 | c.1884G= (p.Leu628=) c.1515G= (p.Leu505=) c.78G= (p.Leu26=) | |
16 | g.56836702G>T | CA495602532 | NUP93 | c.1884G>T (p.Leu628=) c.1515G>T (p.Leu505=) c.78G>T (p.Leu26=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56836703T>A | CA395993337 | NUP93 | c.1885T>A (p.Tyr629Asn) c.1516T>A (p.Tyr506Asn) c.79T>A (p.Tyr27Asn) | |
16 | g.56836703T>C | CA395993338 | NUP93 | c.1885T>C (p.Tyr629His) c.1516T>C (p.Tyr506His) c.79T>C (p.Tyr27His) | |
16 | g.56836703T>G | CA395993339 | NUP93 | c.1885T>G (p.Tyr629Asp) c.1516T>G (p.Tyr506Asp) c.79T>G (p.Tyr27Asp) | |
16 | g.56836704A= | CA2224333820 | NUP93 | c.1886A= (p.Tyr629=) c.1517A= (p.Tyr506=) c.80A= (p.Tyr27=) | |
16 | g.56836704A>C | CA395993341 | NUP93 | c.1886A>C (p.Tyr629Ser) c.1517A>C (p.Tyr506Ser) c.80A>C (p.Tyr27Ser) | |
16 | g.56836704A>G | CA357852 | NUP93 | c.1886A>G (p.Tyr629Cys) c.1517A>G (p.Tyr506Cys) c.80A>G (p.Tyr27Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56836704A>T | CA395993344 | NUP93 | c.1886A>T (p.Tyr629Phe) c.1517A>T (p.Tyr506Phe) c.80A>T (p.Tyr27Phe) | |
16 | g.56836705T>A | CA395993345 | NUP93 | c.1887T>A (p.Tyr629Ter) c.1518T>A (p.Tyr506Ter) c.81T>A (p.Tyr27Ter) | |
16 | g.56836705T>C | CA495602533 | NUP93 | c.1887T>C (p.Tyr629=) c.1518T>C (p.Tyr506=) c.81T>C (p.Tyr27=) | |
16 | g.56836705T>G | CA395993346 | NUP93 | c.1887T>G (p.Tyr629Ter) c.1518T>G (p.Tyr506Ter) c.81T>G (p.Tyr27Ter) | |
16 | g.56836706G>A | CA395993347 | NUP93 | c.1888G>A (p.Asp630Asn) c.1519G>A (p.Asp507Asn) c.82G>A (p.Asp28Asn) | COSMIC |
16 | g.56836706G>C | CA395993349 | NUP93 | c.1888G>C (p.Asp630His) c.1519G>C (p.Asp507His) c.82G>C (p.Asp28His) | |
16 | g.56836706G= | CA2224333821 | NUP93 | c.1888G= (p.Asp630=) c.1519G= (p.Asp507=) c.82G= (p.Asp28=) | |
16 | g.56836706G>T | CA395993350 | NUP93 | c.1888G>T (p.Asp630Tyr) c.1519G>T (p.Asp507Tyr) c.82G>T (p.Asp28Tyr) | |
16 | g.56836707A= | CA2224333822 | NUP93 | c.1889A= (p.Asp630=) c.1520A= (p.Asp507=) c.83A= (p.Asp28=) | |
16 | g.56836707A>C | CA395993354 | NUP93 | c.1889A>C (p.Asp630Ala) c.1520A>C (p.Asp507Ala) c.83A>C (p.Asp28Ala) | |
16 | g.56836707A>G | CA395993356 | NUP93 | c.1889A>G (p.Asp630Gly) c.1520A>G (p.Asp507Gly) c.83A>G (p.Asp28Gly) | |
16 | g.56836707A>T | CA395993353 | NUP93 | c.1889A>T (p.Asp630Val) c.1520A>T (p.Asp507Val) c.83A>T (p.Asp28Val) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56836707dup | CA8068574 | NUP93 | c.1889dup (p.Asp630GlufsTer7) c.1520dup (p.Asp507GlufsTer7) c.83dup (p.Asp28GlufsTer7) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56836708C>A | CA395993358 | NUP93 | c.1890C>A (p.Asp630Glu) c.1521C>A (p.Asp507Glu) c.84C>A (p.Asp28Glu) | |
16 | g.56836708C= | CA2224333823 | NUP93 | c.1890C= (p.Asp630=) c.1521C= (p.Asp507=) c.84C= (p.Asp28=) | |
16 | g.56836708C>G | CA395993360 | NUP93 | c.1890C>G (p.Asp630Glu) c.1521C>G (p.Asp507Glu) c.84C>G (p.Asp28Glu) | |
16 | g.56836708C>T | CA8068575 | NUP93 | c.1890C>T (p.Asp630=) c.1521C>T (p.Asp507=) c.84C>T (p.Asp28=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56836709C>A | CA395993362 | NUP93 | c.1891C>A (p.Leu631Ile) c.1522C>A (p.Leu508Ile) c.85C>A (p.Leu29Ile) | COSMIC |
16 | g.56836709C>G | CA395993364 | NUP93 | c.1891C>G (p.Leu631Val) c.1522C>G (p.Leu508Val) c.85C>G (p.Leu29Val) | |
16 | g.56836709C>T | CA395993366 | NUP93 | c.1891C>T (p.Leu631Phe) c.1522C>T (p.Leu508Phe) c.85C>T (p.Leu29Phe) | |
16 | g.56836710T>A | CA395993368 | NUP93 | c.1892T>A (p.Leu631His) c.1523T>A (p.Leu508His) c.86T>A (p.Leu29His) | |
16 | g.56836710T>C | CA395993369 | NUP93 | c.1892T>C (p.Leu631Pro) c.1523T>C (p.Leu508Pro) c.86T>C (p.Leu29Pro) | |
16 | g.56836710T>G | CA395993371 | NUP93 | c.1892T>G (p.Leu631Arg) c.1523T>G (p.Leu508Arg) c.86T>G (p.Leu29Arg) | |
16 | g.56836711T>A | CA495602536 | NUP93 | c.1893T>A (p.Leu631=) c.1524T>A (p.Leu508=) c.87T>A (p.Leu29=) | |
16 | g.56836711T>C | CA495602534 | NUP93 | c.1893T>C (p.Leu631=) c.1524T>C (p.Leu508=) c.87T>C (p.Leu29=) | |
16 | g.56836711T>G | CA495602535 | NUP93 | c.1893T>G (p.Leu631=) c.1524T>G (p.Leu508=) c.87T>G (p.Leu29=) | |
16 | g.56836712G>A | CA395993373 | NUP93 | c.1894G>A (p.Ala632Thr) c.1525G>A (p.Ala509Thr) c.88G>A (p.Ala30Thr) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56836712G>C | CA395993377 | NUP93 | c.1894G>C (p.Ala632Pro) c.1525G>C (p.Ala509Pro) c.88G>C (p.Ala30Pro) | |
16 | g.56836712G= | CA2224333824 | NUP93 | c.1894G= (p.Ala632=) c.1525G= (p.Ala509=) c.88G= (p.Ala30=) | |
16 | g.56836712G>T | CA395993379 | NUP93 | c.1894G>T (p.Ala632Ser) c.1525G>T (p.Ala509Ser) c.88G>T (p.Ala30Ser) | |
16 | g.56836713C>A | CA395993382 | NUP93 | c.1895C>A (p.Ala632Asp) c.1526C>A (p.Ala509Asp) c.89C>A (p.Ala30Asp) | gnomAD v4 |
16 | g.56836713C= | CA2224333825 | NUP93 | c.1895C= (p.Ala632=) c.1526C= (p.Ala509=) c.89C= (p.Ala30=) | |
16 | g.56836713C>G | CA395993384 | NUP93 | c.1895C>G (p.Ala632Gly) c.1526C>G (p.Ala509Gly) c.89C>G (p.Ala30Gly) | dbSNP gnomAD v4 |
16 | g.56836713C>T | CA395993383 | NUP93 | c.1895C>T (p.Ala632Val) c.1526C>T (p.Ala509Val) c.89C>T (p.Ala30Val) | gnomAD v4 |
16 | g.56836714C>A | CA495602537 | NUP93 | c.1896C>A (p.Ala632=) c.1527C>A (p.Ala509=) c.90C>A (p.Ala30=) | gnomAD v4 |
16 | g.56836714C>G | CA495602538 | NUP93 | c.1896C>G (p.Ala632=) c.1527C>G (p.Ala509=) c.90C>G (p.Ala30=) | |
16 | g.56836714C>T | CA495602539 | NUP93 | c.1896C>T (p.Ala632=) c.1527C>T (p.Ala509=) c.90C>T (p.Ala30=) | |
16 | g.56836715A= | CA2224333826 | NUP93 | c.1897A= (p.Lys633=) c.1528A= (p.Lys510=) c.91A= (p.Lys31=) | |
16 | g.56836715A>C | CA8068576 | NUP93 | c.1897A>C (p.Lys633Gln) c.1528A>C (p.Lys510Gln) c.91A>C (p.Lys31Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56836715A>G | CA395993387 | NUP93 | c.1897A>G (p.Lys633Glu) c.1528A>G (p.Lys510Glu) c.91A>G (p.Lys31Glu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56836715A>T | CA395993389 | NUP93 | c.1897A>T (p.Lys633Ter) c.1528A>T (p.Lys510Ter) c.91A>T (p.Lys31Ter) | |
16 | g.56836716A= | CA2224333827 | NUP93 | c.1898A= (p.Lys633=) c.1529A= (p.Lys510=) c.92A= (p.Lys31=) | |
16 | g.56836716A>C | CA395993390 | NUP93 | c.1898A>C (p.Lys633Thr) c.1529A>C (p.Lys510Thr) c.92A>C (p.Lys31Thr) | gnomAD v4 |
16 | g.56836716A>G | CA395993392 | NUP93 | c.1898A>G (p.Lys633Arg) c.1529A>G (p.Lys510Arg) c.92A>G (p.Lys31Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56836716A>T | CA395993393 | NUP93 | c.1898A>T (p.Lys633Met) c.1529A>T (p.Lys510Met) c.92A>T (p.Lys31Met) | |
16 | g.56836717G>A | CA495602540 | NUP93 | c.1899G>A (p.Lys633=) c.1530G>A (p.Lys510=) c.93G>A (p.Lys31=) | |
16 | g.56836717G>C | CA395993394 | NUP93 | c.1899G>C (p.Lys633Asn) c.1530G>C (p.Lys510Asn) c.93G>C (p.Lys31Asn) | |
16 | g.56836717G>T | CA395993395 | NUP93 | c.1899G>T (p.Lys633Asn) c.1530G>T (p.Lys510Asn) c.93G>T (p.Lys31Asn) | |
16 | g.56836718G>A | CA395993400 | NUP93 | c.1899+1G>A (n.1899+1G>A) c.1530+1G>A (n.1530+1G>A) c.93+1G>A (n.93+1G>A) | |
16 | g.56836718G>C | CA395993401 | NUP93 | c.1899+1G>C (n.1899+1G>C) c.1530+1G>C (n.1530+1G>C) c.93+1G>C (n.93+1G>C) | |
16 | g.56836718G>T | CA395993403 | NUP93 | c.1899+1G>T (n.1899+1G>T) c.1530+1G>T (n.1530+1G>T) c.93+1G>T (n.93+1G>T) | |
16 | g.56836719T>A | CA395993408 | NUP93 | c.1899+2T>A (n.1899+2T>A) c.1530+2T>A (n.1530+2T>A) c.93+2T>A (n.93+2T>A) | |
16 | g.56836719T>C | CA395993406 | NUP93 | c.1899+2T>C (n.1899+2T>C) c.1530+2T>C (n.1530+2T>C) c.93+2T>C (n.93+2T>C) | |
16 | g.56836719T>G | CA395993405 | NUP93 | c.1899+2T>G (n.1899+2T>G) c.1530+2T>G (n.1530+2T>G) c.93+2T>G (n.93+2T>G) | |
16 | g.56836721A= | CA2224333828 | NUP93 | c.1899+4A= (n.1899+4A=) c.1530+4A= (n.1530+4A=) c.93+4A= (n.93+4A=) | |
16 | g.56836721A>G | CA8068577 | NUP93 | c.1899+4A>G (n.1899+4A>G) c.1530+4A>G (n.1530+4A>G) c.93+4A>G (n.93+4A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56836722A= | CA2224333829 | NUP93 | c.1899+5A= (n.1899+5A=) c.1530+5A= (n.1530+5A=) c.93+5A= (n.93+5A=) | |
16 | g.56836722A>C | CA8068578 | NUP93 | c.1899+5A>C (n.1899+5A>C) c.1530+5A>C (n.1530+5A>C) c.93+5A>C (n.93+5A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56836722A>G | CA2633367367 | NUP93 | c.1899+5A>G (n.1899+5A>G) c.1530+5A>G (n.1530+5A>G) c.93+5A>G (n.93+5A>G) | gnomAD v4 |
16 | g.56836722_56836724delinsAGT | CA2224333830 | NUP93 | c.1899+5_1899+7delinsAGT (n.1899+5_1899+7delinsAGT) c.1530+5_1530+7delinsAGT (n.1530+5_1530+7delinsAGT) c.93+5_93+7delinsAGT (n.93+5_93+7delinsAGT) | |
16 | g.56836723del | CA2807158975 | NUP93 | c.1899+6del (n.1899+6del) c.1530+6del (n.1530+6del) c.93+6del (n.93+6del) | |
16 | g.56836723G>C | CA622339536 | NUP93 | c.1899+6G>C (n.1899+6G>C) c.1530+6G>C (n.1530+6G>C) c.93+6G>C (n.93+6G>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56836723G= | CA2224333831 | NUP93 | c.1899+6G= (n.1899+6G=) c.1530+6G= (n.1530+6G=) c.93+6G= (n.93+6G=) | |
16 | g.56836723G>T | CA722010240 | NUP93 | c.1899+6G>T (n.1899+6G>T) c.1530+6G>T (n.1530+6G>T) c.93+6G>T (n.93+6G>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56836726_56836727del | CA281501857 | NUP93 | c.1899+9_1899+10del (n.1899+9_1899+10del) c.1530+9_1530+10del (n.1530+9_1530+10del) c.93+9_93+10del (n.93+9_93+10del) | dbSNP gnomAD v4 |
16 | g.56836724T>C | CA2633367368 | NUP93 | c.1899+7T>C (n.1899+7T>C) c.1530+7T>C (n.1530+7T>C) c.93+7T>C (n.93+7T>C) | gnomAD v4 |
16 | g.56836727G>A | CA2633367369 | NUP93 | c.1899+10G>A (n.1899+10G>A) c.1530+10G>A (n.1530+10G>A) c.93+10G>A (n.93+10G>A) | gnomAD v4 |
16 | g.56836728C>A | CA2633367370 | NUP93 | c.1899+11C>A (n.1899+11C>A) c.1530+11C>A (n.1530+11C>A) c.93+11C>A (n.93+11C>A) | gnomAD v4 |
16 | g.56836728C= | CA2224333832 | NUP93 | c.1899+11C= (n.1899+11C=) c.1530+11C= (n.1530+11C=) c.93+11C= (n.93+11C=) | |
16 | g.56836728C>T | CA722010241 | NUP93 | c.1899+11C>T (n.1899+11C>T) c.1530+11C>T (n.1530+11C>T) c.93+11C>T (n.93+11C>T) | dbSNP gnomAD v4 |
16 | g.56836730del | CA2576001372 | NUP93 | c.1899+13del (n.1899+13del) c.1530+13del (n.1530+13del) c.93+13del (n.93+13del) | gnomAD v4 |
16 | g.56836729C>A | CA2633367371 | NUP93 | c.1899+12C>A (n.1899+12C>A) c.1530+12C>A (n.1530+12C>A) c.93+12C>A (n.93+12C>A) | gnomAD v4 |
16 | g.56836729C= | CA2224333833 | NUP93 | c.1899+12C= (n.1899+12C=) c.1530+12C= (n.1530+12C=) c.93+12C= (n.93+12C=) | |
16 | g.56836729C>G | CA2224333834 | NUP93 | c.1899+12C>G (n.1899+12C>G) c.1530+12C>G (n.1530+12C>G) c.93+12C>G (n.93+12C>G) | dbSNP |
16 | g.56836730C>A | CA2633367372 | NUP93 | c.1899+13C>A (n.1899+13C>A) c.1530+13C>A (n.1530+13C>A) c.93+13C>A (n.93+13C>A) | gnomAD v4 |
16 | g.56836730C= | CA2224333835 | NUP93 | c.1899+13C= (n.1899+13C=) c.1530+13C= (n.1530+13C=) c.93+13C= (n.93+13C=) | |
16 | g.56836730C>T | CA722010242 | NUP93 | c.1899+13C>T (n.1899+13C>T) c.1530+13C>T (n.1530+13C>T) c.93+13C>T (n.93+13C>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56836731A>C | CA2633367373 | NUP93 | c.1899+14A>C (n.1899+14A>C) c.1530+14A>C (n.1530+14A>C) c.93+14A>C (n.93+14A>C) | gnomAD v4 |
16 | g.56836731_56836735delinsACTTC | CA2224333836 | NUP93 | c.1899+14_1899+18delinsACTTC (n.1899+14_1899+18delinsACTTC) c.1530+14_1530+18delinsACTTC (n.1530+14_1530+18delinsACTTC) c.93+14_93+18delinsACTTC (n.93+14_93+18delinsACTTC) | |
16 | g.56836731_56836738delinsACTTCCTT | CA2224333837 | NUP93 | c.1899+14_1899+21delinsACTTCCTT (n.1899+14_1899+21delinsACTTCCTT) c.1530+14_1530+21delinsACTTCCTT (n.1530+14_1530+21delinsACTTCCTT) c.93+14_93+21delinsACTTCCTT (n.93+14_93+21delinsACTTCCTT) | |
16 | g.56836732C>A | CA2576001373 | NUP93 | c.1899+15C>A (n.1899+15C>A) c.1530+15C>A (n.1530+15C>A) c.93+15C>A (n.93+15C>A) | gnomAD v4 |
16 | g.56836736_56836739del | CA722010243 | NUP93 | c.1899+19_1899+22del (n.1899+19_1899+22del) c.1530+19_1530+22del (n.1530+19_1530+22del) c.93+19_93+22del (n.93+19_93+22del) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56836735_56836741del | CA977661302 | NUP93 | c.1899+18_1899+24del (n.1899+18_1899+24del) c.1530+18_1530+24del (n.1530+18_1530+24del) c.93+18_93+24del (n.93+18_93+24del) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56836735C>A | CA2633367374 | NUP93 | c.1899+18C>A (n.1899+18C>A) c.1530+18C>A (n.1530+18C>A) c.93+18C>A (n.93+18C>A) | gnomAD v4 |
16 | g.56836735C>G | CA2633367375 | NUP93 | c.1899+18C>G (n.1899+18C>G) c.1530+18C>G (n.1530+18C>G) c.93+18C>G (n.93+18C>G) | gnomAD v4 |
16 | g.56836736C>A | CA2633367377 | NUP93 | c.1899+19C>A (n.1899+19C>A) c.1530+19C>A (n.1530+19C>A) c.93+19C>A (n.93+19C>A) | gnomAD v4 |
16 | g.56836736C= | CA2224333838 | NUP93 | c.1899+19C= (n.1899+19C=) c.1530+19C= (n.1530+19C=) c.93+19C= (n.93+19C=) | |
16 | g.56836736C>G | CA2633367376 | NUP93 | c.1899+19C>G (n.1899+19C>G) c.1530+19C>G (n.1530+19C>G) c.93+19C>G (n.93+19C>G) | gnomAD v4 |
16 | g.56836736C>T | CA281501861 | NUP93 | c.1899+19C>T (n.1899+19C>T) c.1530+19C>T (n.1530+19C>T) c.93+19C>T (n.93+19C>T) | dbSNP |
16 | g.56836739_56836741del | CA2633367378 | NUP93 | c.1899+22_1899+24del (n.1899+22_1899+24del) c.1530+22_1530+24del (n.1530+22_1530+24del) c.93+22_93+24del (n.93+22_93+24del) | gnomAD v4 |
16 | g.56836737T>A | CA722010244 | NUP93 | c.1899+20T>A (n.1899+20T>A) c.1530+20T>A (n.1530+20T>A) c.93+20T>A (n.93+20T>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56836737T>G | CA2633367379 | NUP93 | c.1899+20T>G (n.1899+20T>G) c.1530+20T>G (n.1530+20T>G) c.93+20T>G (n.93+20T>G) | gnomAD v4 |
16 | g.56836737T= | CA2224333839 | NUP93 | c.1899+20T= (n.1899+20T=) c.1530+20T= (n.1530+20T=) c.93+20T= (n.93+20T=) | |
16 | g.56836738T>C | CA622339538 | NUP93 | c.1899+21T>C (n.1899+21T>C) c.1530+21T>C (n.1530+21T>C) c.93+21T>C (n.93+21T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56836738T= | CA2224333840 | NUP93 | c.1899+21T= (n.1899+21T=) c.1530+21T= (n.1530+21T=) c.93+21T= (n.93+21T=) | |
16 | g.56836740_56836741insCGCC | CA2807158976 | NUP93 | c.1899+23_1899+24insCGCC (n.1899+23_1899+24insCGCC) c.1530+23_1530+24insCGCC (n.1530+23_1530+24insCGCC) c.93+23_93+24insCGCC (n.93+23_93+24insCGCC) | |
16 | g.56836742T>C | CA2807158977 | NUP93 | c.1899+25T>C (n.1899+25T>C) c.1530+25T>C (n.1530+25T>C) c.93+25T>C (n.93+25T>C) | |
16 | g.56836742T>G | CA8068579 | NUP93 | c.1899+25T>G (n.1899+25T>G) c.1530+25T>G (n.1530+25T>G) c.93+25T>G (n.93+25T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56836742T= | CA2224333841 | NUP93 | c.1899+25T= (n.1899+25T=) c.1530+25T= (n.1530+25T=) c.93+25T= (n.93+25T=) | |
16 | g.56836743T>C | CA2576001374 | NUP93 | c.1899+26T>C (n.1899+26T>C) c.1530+26T>C (n.1530+26T>C) c.93+26T>C (n.93+26T>C) | gnomAD v4 |
16 | g.56836743T>G | CA2633367380 | NUP93 | c.1899+26T>G (n.1899+26T>G) c.1530+26T>G (n.1530+26T>G) c.93+26T>G (n.93+26T>G) | gnomAD v4 |
16 | g.56836744G>A | CA2224333843 | NUP93 | c.1899+27G>A (n.1899+27G>A) c.1530+27G>A (n.1530+27G>A) c.93+27G>A (n.93+27G>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56836744G= | CA2224333842 | NUP93 | c.1899+27G= (n.1899+27G=) c.1530+27G= (n.1530+27G=) c.93+27G= (n.93+27G=) | |
16 | g.56836745C>A | CA722010245 | NUP93 | c.1899+28C>A (n.1899+28C>A) c.1530+28C>A (n.1530+28C>A) c.93+28C>A (n.93+28C>A) | dbSNP gnomAD v4 |
16 | g.56836745C= | CA2224333844 | NUP93 | c.1899+28C= (n.1899+28C=) c.1530+28C= (n.1530+28C=) c.93+28C= (n.93+28C=) | |
16 | g.56836745C>T | CA2633367383 | NUP93 | c.1899+28C>T (n.1899+28C>T) c.1530+28C>T (n.1530+28C>T) c.93+28C>T (n.93+28C>T) | gnomAD v4 |
16 | g.56836746A= | CA2224333845 | NUP93 | c.1899+29A= (n.1899+29A=) c.1530+29A= (n.1530+29A=) c.93+29A= (n.93+29A=) | |
16 | g.56836746A>G | CA281501862 | NUP93 | c.1899+29A>G (n.1899+29A>G) c.1530+29A>G (n.1530+29A>G) c.93+29A>G (n.93+29A>G) | dbSNP gnomAD v4 |
16 | g.56836747C>A | CA2576001375 | NUP93 | c.1899+30C>A (n.1899+30C>A) c.1530+30C>A (n.1530+30C>A) c.93+30C>A (n.93+30C>A) | gnomAD v4 |
16 | g.56836747C= | CA2224333846 | NUP93 | c.1899+30C= (n.1899+30C=) c.1530+30C= (n.1530+30C=) c.93+30C= (n.93+30C=) | |
16 | g.56836747C>G | CA8068580 | NUP93 | c.1899+30C>G (n.1899+30C>G) c.1530+30C>G (n.1530+30C>G) c.93+30C>G (n.93+30C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56836748T>C | CA2807158978 | NUP93 | c.1899+31T>C (n.1899+31T>C) c.1530+31T>C (n.1530+31T>C) c.93+31T>C (n.93+31T>C) | |
16 | g.56836750C>A | CA2633367387 | NUP93 | c.1899+33C>A (n.1899+33C>A) c.1530+33C>A (n.1530+33C>A) c.93+33C>A (n.93+33C>A) | gnomAD v4 |
16 | g.56836750C= | CA2224333847 | NUP93 | c.1899+33C= (n.1899+33C=) c.1530+33C= (n.1530+33C=) c.93+33C= (n.93+33C=) | |
16 | g.56836750C>T | CA722010246 | NUP93 | c.1899+33C>T (n.1899+33C>T) c.1530+33C>T (n.1530+33C>T) c.93+33C>T (n.93+33C>T) | dbSNP gnomAD v4 |
16 | g.56836750_56836752del | CA2576001376 | NUP93 | c.1899+33_1899+35del (n.1899+33_1899+35del) c.1530+33_1530+35del (n.1530+33_1530+35del) c.93+33_93+35del (n.93+33_93+35del) | |
16 | g.56836751A= | CA2224333848 | NUP93 | c.1899+34A= (n.1899+34A=) c.1530+34A= (n.1530+34A=) c.93+34A= (n.93+34A=) | |
16 | g.56836751A>C | CA2633367391 | NUP93 | c.1899+34A>C (n.1899+34A>C) c.1530+34A>C (n.1530+34A>C) c.93+34A>C (n.93+34A>C) | gnomAD v4 |
16 | g.56836751A>G | CA2633367393 | NUP93 | c.1899+34A>G (n.1899+34A>G) c.1530+34A>G (n.1530+34A>G) c.93+34A>G (n.93+34A>G) | gnomAD v4 |
16 | g.56836751A>T | CA2224333849 | NUP93 | c.1899+34A>T (n.1899+34A>T) c.1530+34A>T (n.1530+34A>T) c.93+34A>T (n.93+34A>T) | dbSNP |
16 | g.56836752C>T | CA2576001377 | NUP93 | c.1899+35C>T (n.1899+35C>T) c.1530+35C>T (n.1530+35C>T) c.93+35C>T (n.93+35C>T) | gnomAD v4 |
16 | g.56836753A= | CA2224333850 | NUP93 | c.1899+36A= (n.1899+36A=) c.1530+36A= (n.1530+36A=) c.93+36A= (n.93+36A=) | |
16 | g.56836753A>G | CA622339542 | NUP93 | c.1899+36A>G (n.1899+36A>G) c.1530+36A>G (n.1530+36A>G) c.93+36A>G (n.93+36A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56836754G>A | CA2633367395 | NUP93 | c.1899+37G>A (n.1899+37G>A) c.1530+37G>A (n.1530+37G>A) c.93+37G>A (n.93+37G>A) | gnomAD v4 |
16 | g.56836755G>A | CA2576001378 | NUP93 | c.1899+38G>A (n.1899+38G>A) c.1530+38G>A (n.1530+38G>A) c.93+38G>A (n.93+38G>A) | |
16 | g.56836756T>A | CA8068581 | NUP93 | c.1899+39T>A (n.1899+39T>A) c.1530+39T>A (n.1530+39T>A) c.93+39T>A (n.93+39T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56836756T>C | CA2576001379 | NUP93 | c.1899+39T>C (n.1899+39T>C) c.1530+39T>C (n.1530+39T>C) c.93+39T>C (n.93+39T>C) | |
16 | g.56836756T= | CA2224333851 | NUP93 | c.1899+39T= (n.1899+39T=) c.1530+39T= (n.1530+39T=) c.93+39T= (n.93+39T=) | |
16 | g.56836757C>A | CA2576001380 | NUP93 | c.1899+40C>A (n.1899+40C>A) c.1530+40C>A (n.1530+40C>A) c.93+40C>A (n.93+40C>A) | gnomAD v4 |
16 | g.56836757C= | CA2224333852 | NUP93 | c.1899+40C= (n.1899+40C=) c.1530+40C= (n.1530+40C=) c.93+40C= (n.93+40C=) | |
16 | g.56836757C>T | CA622339545 | NUP93 | c.1899+40C>T (n.1899+40C>T) c.1530+40C>T (n.1530+40C>T) c.93+40C>T (n.93+40C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56836758T>A | CA2576001381 | NUP93 | c.1899+41T>A (n.1899+41T>A) c.1530+41T>A (n.1530+41T>A) c.93+41T>A (n.93+41T>A) | |
16 | g.56836759G>A | CA2633367396 | NUP93 | c.1899+42G>A (n.1899+42G>A) c.1530+42G>A (n.1530+42G>A) c.93+42G>A (n.93+42G>A) | gnomAD v4 |
16 | g.56836759G= | CA2224333853 | NUP93 | c.1899+42G= (n.1899+42G=) c.1530+42G= (n.1530+42G=) c.93+42G= (n.93+42G=) | |
16 | g.56836759G>T | CA622339546 | NUP93 | c.1899+42G>T (n.1899+42G>T) c.1530+42G>T (n.1530+42G>T) c.93+42G>T (n.93+42G>T) | dbSNP gnomAD v2 |
16 | g.56836760C>A | CA2576001382 | NUP93 | c.1899+43C>A (n.1899+43C>A) c.1530+43C>A (n.1530+43C>A) c.93+43C>A (n.93+43C>A) | gnomAD v4 |
16 | g.56836760C>T | CA2633367397 | NUP93 | c.1899+43C>T (n.1899+43C>T) c.1530+43C>T (n.1530+43C>T) c.93+43C>T (n.93+43C>T) | gnomAD v4 |
16 | g.56836761T>A | CA2576001383 | NUP93 | c.1899+44T>A (n.1899+44T>A) c.1530+44T>A (n.1530+44T>A) c.93+44T>A (n.93+44T>A) | |
16 | g.56836761T>C | CA2807158979 | NUP93 | c.1899+44T>C (n.1899+44T>C) c.1530+44T>C (n.1530+44T>C) c.93+44T>C (n.93+44T>C) | |
16 | g.56836762G>A | CA2807158980 | NUP93 | c.1899+45G>A (n.1899+45G>A) c.1530+45G>A (n.1530+45G>A) c.93+45G>A (n.93+45G>A) | |
16 | g.56836762G>T | CA2633367399 | NUP93 | c.1899+45G>T (n.1899+45G>T) c.1530+45G>T (n.1530+45G>T) c.93+45G>T (n.93+45G>T) | gnomAD v4 |
16 | g.56836763G>A | CA2633367401 | NUP93 | c.1899+46G>A (n.1899+46G>A) c.1530+46G>A (n.1530+46G>A) c.93+46G>A (n.93+46G>A) | gnomAD v4 |
16 | g.56836763G>C | CA722010247 | NUP93 | c.1899+46G>C (n.1899+46G>C) c.1530+46G>C (n.1530+46G>C) c.93+46G>C (n.93+46G>C) | dbSNP |
16 | g.56836763G= | CA2224333854 | NUP93 | c.1899+46G= (n.1899+46G=) c.1530+46G= (n.1530+46G=) c.93+46G= (n.93+46G=) | |
16 | g.56836763G>T | CA2633367402 | NUP93 | c.1899+46G>T (n.1899+46G>T) c.1530+46G>T (n.1530+46G>T) c.93+46G>T (n.93+46G>T) | gnomAD v4 |
16 | g.56836764C>A | CA2633367404 | NUP93 | c.1899+47C>A (n.1899+47C>A) c.1530+47C>A (n.1530+47C>A) c.93+47C>A (n.93+47C>A) | gnomAD v4 |
16 | g.56836764C= | CA2224333855 | NUP93 | c.1899+47C= (n.1899+47C=) c.1530+47C= (n.1530+47C=) c.93+47C= (n.93+47C=) | |
16 | g.56836764C>G | CA722010248 | NUP93 | c.1899+47C>G (n.1899+47C>G) c.1530+47C>G (n.1530+47C>G) c.93+47C>G (n.93+47C>G) | dbSNP |
16 | g.56836764C>T | CA2576001384 | NUP93 | c.1899+47C>T (n.1899+47C>T) c.1530+47C>T (n.1530+47C>T) c.93+47C>T (n.93+47C>T) | |
16 | g.56836765C>A | CA2633367409 | NUP93 | c.1899+48C>A (n.1899+48C>A) c.1530+48C>A (n.1530+48C>A) c.93+48C>A (n.93+48C>A) | gnomAD v4 |
16 | g.56836765C>T | CA2633367407 | NUP93 | c.1899+48C>T (n.1899+48C>T) c.1530+48C>T (n.1530+48C>T) c.93+48C>T (n.93+48C>T) | gnomAD v4 |
16 | g.56836766T>C | CA2633367412 | NUP93 | c.1899+49T>C (n.1899+49T>C) c.1530+49T>C (n.1530+49T>C) c.93+49T>C (n.93+49T>C) | gnomAD v4 |
16 | g.56836769del | CA2633367410 | NUP93 | c.1899+52del (n.1899+52del) c.1530+52del (n.1530+52del) c.93+52del (n.93+52del) | gnomAD v4 |
16 | g.56836768T>C | CA2633367415 | NUP93 | c.1899+51T>C (n.1899+51T>C) c.1530+51T>C (n.1530+51T>C) c.93+51T>C (n.93+51T>C) | gnomAD v4 |
16 | g.56836768T>G | CA977661303 | NUP93 | c.1899+51T>G (n.1899+51T>G) c.1530+51T>G (n.1530+51T>G) c.93+51T>G (n.93+51T>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56836768T= | CA2224333856 | NUP93 | c.1899+51T= (n.1899+51T=) c.1530+51T= (n.1530+51T=) c.93+51T= (n.93+51T=) | |
16 | g.56836770G>A | CA2576001385 | NUP93 | c.1899+53G>A (n.1899+53G>A) c.1530+53G>A (n.1530+53G>A) c.93+53G>A (n.93+53G>A) | |
16 | g.56836770G>T | CA2633367416 | NUP93 | c.1899+53G>T (n.1899+53G>T) c.1530+53G>T (n.1530+53G>T) c.93+53G>T (n.93+53G>T) | gnomAD v4 |
16 | g.56836771G>A | CA2576001386 | NUP93 | c.1899+54G>A (n.1899+54G>A) c.1530+54G>A (n.1530+54G>A) c.93+54G>A (n.93+54G>A) | gnomAD v4 |
16 | g.56836771G>T | CA2633367423 | NUP93 | c.1899+54G>T (n.1899+54G>T) c.1530+54G>T (n.1530+54G>T) c.93+54G>T (n.93+54G>T) | gnomAD v4 |
16 | g.56836772C>A | CA2576001388 | NUP93 | c.1899+55C>A (n.1899+55C>A) c.1530+55C>A (n.1530+55C>A) c.93+55C>A (n.93+55C>A) | gnomAD v4 |
16 | g.56836772C>T | CA2576001387 | NUP93 | c.1899+55C>T (n.1899+55C>T) c.1530+55C>T (n.1530+55C>T) c.93+55C>T (n.93+55C>T) |