Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.125057559T>ACA372191240WASHC5c.1872A>T (p.Arg624Ser)
c.1428A>T (p.Arg476Ser)
8g.125057559T>CCA462769526WASHC5c.1872A>G (p.Arg624=)
c.1428A>G (p.Arg476=)
8g.125057559T>GCA372191241WASHC5c.1872A>C (p.Arg624Ser)
c.1428A>C (p.Arg476Ser)
8g.125057560C>ACA372191242WASHC5c.1871G>T (p.Arg624Ile)
c.1427G>T (p.Arg476Ile)
8g.125057560C>GCA372191243WASHC5c.1871G>C (p.Arg624Thr)
c.1427G>C (p.Arg476Thr)
8g.125057560C>TCA372191244WASHC5c.1871G>A (p.Arg624Lys)
c.1427G>A (p.Arg476Lys)
 gnomAD v4
8g.125057561T>ACA372191245WASHC5c.1870A>T (p.Arg624Ter)
c.1426A>T (p.Arg476Ter)
8g.125057561T>CCA372191246WASHC5c.1870A>G (p.Arg624Gly)
c.1426A>G (p.Arg476Gly)
 gnomAD v4
8g.125057561T>GCA462769527WASHC5c.1870A>C (p.Arg624=)
c.1426A>C (p.Arg476=)
8g.125057562C>ACA462769528WASHC5c.1869G>T (p.Val623=)
c.1425G>T (p.Val475=)
8g.125057562C>GCA462769529WASHC5c.1869G>C (p.Val623=)
c.1425G>C (p.Val475=)
8g.125057562C>TCA462769530WASHC5c.1869G>A (p.Val623=)
c.1425G>A (p.Val475=)
8g.125057563A>CCA372191247WASHC5c.1868T>G (p.Val623Gly)
c.1424T>G (p.Val475Gly)
 gnomAD v4
8g.125057563A>GCA372191248WASHC5c.1868T>C (p.Val623Ala)
c.1424T>C (p.Val475Ala)
8g.125057563A>TCA372191249WASHC5c.1868T>A (p.Val623Glu)
c.1424T>A (p.Val475Glu)
8g.125057564C>ACA372191250WASHC5c.1867G>T (p.Val623Leu)
c.1423G>T (p.Val475Leu)
8g.125057564C=CA1817263317WASHC5c.1867G= (p.Val623=)
c.1423G= (p.Val475=)
8g.125057564C>GCA372191251WASHC5c.1867G>C (p.Val623Leu)
c.1423G>C (p.Val475Leu)
8g.125057564C>TCA372191252WASHC5c.1867G>A (p.Val623Met)
c.1423G>A (p.Val475Met)
 ClinVar dbSNP
8g.125057565A=CA1817263323WASHC5c.1866T= (p.Tyr622=)
c.1422T= (p.Tyr474=)
8g.125057565A>CCA372191254WASHC5c.1866T>G (p.Tyr622Ter)
c.1422T>G (p.Tyr474Ter)
8g.125057565A>GCA4873709WASHC5c.1866T>C (p.Tyr622=)
c.1422T>C (p.Tyr474=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.125057565A>TCA372191253WASHC5c.1866T>A (p.Tyr622Ter)
c.1422T>A (p.Tyr474Ter)
8g.125057566T>ACA372191255WASHC5c.1865A>T (p.Tyr622Phe)
c.1421A>T (p.Tyr474Phe)
 dbSNP gnomAD v2 gnomAD v4
8g.125057566T>CCA372191256WASHC5c.1865A>G (p.Tyr622Cys)
c.1421A>G (p.Tyr474Cys)
 ClinVar dbSNP gnomAD v4
8g.125057566T>GCA372191257WASHC5c.1865A>C (p.Tyr622Ser)
c.1421A>C (p.Tyr474Ser)
8g.125057566T=CA1817263328WASHC5c.1865A= (p.Tyr622=)
c.1421A= (p.Tyr474=)
8g.125057567A>CCA372191258WASHC5c.1864T>G (p.Tyr622Asp)
c.1420T>G (p.Tyr474Asp)
8g.125057567A>GCA372191259WASHC5c.1864T>C (p.Tyr622His)
c.1420T>C (p.Tyr474His)
 gnomAD v4
8g.125057567A>TCA372191260WASHC5c.1864T>A (p.Tyr622Asn)
c.1420T>A (p.Tyr474Asn)
8g.125057568G>ACA462769533WASHC5c.1863C>T (p.Ser621=)
c.1419C>T (p.Ser473=)
8g.125057568G>CCA462769531WASHC5c.1863C>G (p.Ser621=)
c.1419C>G (p.Ser473=)
8g.125057568G>TCA462769532WASHC5c.1863C>A (p.Ser621=)
c.1419C>A (p.Ser473=)
 gnomAD v4
8g.125057569G>ACA372191261WASHC5c.1862C>T (p.Ser621Phe)
c.1418C>T (p.Ser473Phe)
 COSMIC
8g.125057569G>CCA372191262WASHC5c.1862C>G (p.Ser621Cys)
c.1418C>G (p.Ser473Cys)
8g.125057569G>TCA372191263WASHC5c.1862C>A (p.Ser621Tyr)
c.1418C>A (p.Ser473Tyr)
 gnomAD v4
8g.125057570A>CCA372191264WASHC5c.1861T>G (p.Ser621Ala)
c.1417T>G (p.Ser473Ala)
8g.125057570A>GCA372191265WASHC5c.1861T>C (p.Ser621Pro)
c.1417T>C (p.Ser473Pro)
8g.125057570A>TCA372191266WASHC5c.1861T>A (p.Ser621Thr)
c.1417T>A (p.Ser473Thr)
8g.125057571T>ACA462769534WASHC5c.1860A>T (p.Val620=)
c.1416A>T (p.Val472=)
8g.125057571T>CCA462769535WASHC5c.1860A>G (p.Val620=)
c.1416A>G (p.Val472=)
8g.125057571T>GCA462769536WASHC5c.1860A>C (p.Val620=)
c.1416A>C (p.Val472=)
8g.125057572A>CCA372191269WASHC5c.1859T>G (p.Val620Gly)
c.1415T>G (p.Val472Gly)
 ClinVar dbSNP
8g.125057572A>GCA372191268WASHC5c.1859T>C (p.Val620Ala)
c.1415T>C (p.Val472Ala)
8g.125057572A>TCA372191267WASHC5c.1859T>A (p.Val620Glu)
c.1415T>A (p.Val472Glu)
8g.125057573C>ACA372191270WASHC5c.1858G>T (p.Val620Leu)
c.1414G>T (p.Val472Leu)
8g.125057573C=CA1817263331WASHC5c.1858G= (p.Val620=)
c.1414G= (p.Val472=)
8g.125057573C>GCA372191271WASHC5c.1858G>C (p.Val620Leu)
c.1414G>C (p.Val472Leu)
8g.125057573C>TCA372191272WASHC5c.1858G>A (p.Val620Ile)
c.1414G>A (p.Val472Ile)
 dbSNP gnomAD v2
8g.125057574C>ACA343118WASHC5c.1857G>T (p.Leu619Phe)
c.1413G>T (p.Leu471Phe)
 ClinVar dbSNP
8g.125057574C=CA1817263336WASHC5c.1857G= (p.Leu619=)
c.1413G= (p.Leu471=)
8g.125057574C>GCA251713WASHC5c.1857G>C (p.Leu619Phe)
c.1413G>C (p.Leu471Phe)
 ClinVar dbSNP
8g.125057574C>TCA462769537WASHC5c.1857G>A (p.Leu619=)
c.1413G>A (p.Leu471=)
8g.125057575A>CCA372191273WASHC5c.1856T>G (p.Leu619Trp)
c.1412T>G (p.Leu471Trp)
8g.125057575A>GCA372191274WASHC5c.1856T>C (p.Leu619Ser)
c.1412T>C (p.Leu471Ser)
8g.125057575A>TCA372191275WASHC5c.1856T>A (p.Leu619Ter)
c.1412T>A (p.Leu471Ter)
8g.125057576A>CCA372191276WASHC5c.1855T>G (p.Leu619Val)
c.1411T>G (p.Leu471Val)
 ClinVar
8g.125057576A>GCA462769538WASHC5c.1855T>C (p.Leu619=)
c.1411T>C (p.Leu471=)
 COSMIC
8g.125057576A>TCA372191277WASHC5c.1855T>A (p.Leu619Met)
c.1411T>A (p.Leu471Met)
8g.125057577C>ACA372191278WASHC5c.1854G>T (p.Glu618Asp)
c.1410G>T (p.Glu470Asp)
8g.125057577C>GCA372191279WASHC5c.1854G>C (p.Glu618Asp)
c.1410G>C (p.Glu470Asp)
8g.125057577C>TCA462769539WASHC5c.1854G>A (p.Glu618=)
c.1410G>A (p.Glu470=)
8g.125057580_125057581delCA2510425464WASHC5c.1853_1854del (p.Glu618ValfsTer?)
c.1409_1410del (p.Glu470ValfsTer?)
 gnomAD v4
8g.125057578T>ACA372191282WASHC5c.1853A>T (p.Glu618Val)
c.1409A>T (p.Glu470Val)
8g.125057578T>CCA372191281WASHC5c.1853A>G (p.Glu618Gly)
c.1409A>G (p.Glu470Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.125057578T>GCA372191280WASHC5c.1853A>C (p.Glu618Ala)
c.1409A>C (p.Glu470Ala)
8g.125057578T=CA1817263341WASHC5c.1853A= (p.Glu618=)
c.1409A= (p.Glu470=)
8g.125057579C>ACA372191283WASHC5c.1852G>T (p.Glu618Ter)
c.1408G>T (p.Glu470Ter)
8g.125057579C=CA1817263343WASHC5c.1852G= (p.Glu618=)
c.1408G= (p.Glu470=)
8g.125057579C>GCA372191285WASHC5c.1852G>C (p.Glu618Gln)
c.1408G>C (p.Glu470Gln)
8g.125057579C>TCA372191284WASHC5c.1852G>A (p.Glu618Lys)
c.1408G>A (p.Glu470Lys)
 dbSNP gnomAD v2 gnomAD v4
8g.125057580T>ACA462769540WASHC5c.1851A>T (p.Gly617=)
c.1407A>T (p.Gly469=)
8g.125057580T>CCA462769541WASHC5c.1851A>G (p.Gly617=)
c.1407A>G (p.Gly469=)
8g.125057580T>GCA462769542WASHC5c.1851A>C (p.Gly617=)
c.1407A>C (p.Gly469=)
8g.125057581C>ACA372191286WASHC5c.1850G>T (p.Gly617Val)
c.1406G>T (p.Gly469Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.125057581C=CA1817263348WASHC5c.1850G= (p.Gly617=)
c.1406G= (p.Gly469=)
8g.125057581C>GCA372191288WASHC5c.1850G>C (p.Gly617Ala)
c.1406G>C (p.Gly469Ala)
8g.125057581C>TCA372191287WASHC5c.1850G>A (p.Gly617Glu)
c.1406G>A (p.Gly469Glu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.125057582delCA2688510122WASHC5c.1850del (p.Gly617GlufsTer7)
c.1406del (p.Gly469GlufsTer7)
 gnomAD v4
8g.125057582C>ACA372191289WASHC5c.1849G>T (p.Gly617Ter)
c.1405G>T (p.Gly469Ter)
8g.125057582C>GCA372191290WASHC5c.1849G>C (p.Gly617Arg)
c.1405G>C (p.Gly469Arg)
8g.125057582C>TCA372191291WASHC5c.1849G>A (p.Gly617Arg)
c.1405G>A (p.Gly469Arg)
 gnomAD v4
8g.125057583A>CCA462769543WASHC5c.1848T>G (p.Ser616=)
c.1404T>G (p.Ser468=)
8g.125057583A>GCA462769544WASHC5c.1848T>C (p.Ser616=)
c.1404T>C (p.Ser468=)
8g.125057583A>TCA462769545WASHC5c.1848T>A (p.Ser616=)
c.1404T>A (p.Ser468=)
8g.125057584G>ACA16042608WASHC5c.1847C>T (p.Ser616Phe)
c.1403C>T (p.Ser468Phe)
 ClinVar dbSNP
8g.125057584G>CCA372191292WASHC5c.1847C>G (p.Ser616Cys)
c.1403C>G (p.Ser468Cys)
 dbSNP gnomAD v2
8g.125057584G=CA1817263354WASHC5c.1847C= (p.Ser616=)
c.1403C= (p.Ser468=)
8g.125057584G>TCA372191293WASHC5c.1847C>A (p.Ser616Tyr)
c.1403C>A (p.Ser468Tyr)
8g.125057585A>CCA372191294WASHC5c.1846T>G (p.Ser616Ala)
c.1402T>G (p.Ser468Ala)
8g.125057585A>GCA372191295WASHC5c.1846T>C (p.Ser616Pro)
c.1402T>C (p.Ser468Pro)
8g.125057585A>TCA372191296WASHC5c.1846T>A (p.Ser616Thr)
c.1402T>A (p.Ser468Thr)
8g.125057586A>CCA372191297WASHC5c.1845T>G (p.Tyr615Ter)
c.1401T>G (p.Tyr467Ter)
8g.125057586A>GCA462769546WASHC5c.1845T>C (p.Tyr615=)
c.1401T>C (p.Tyr467=)
8g.125057586A>TCA372191298WASHC5c.1845T>A (p.Tyr615Ter)
c.1401T>A (p.Tyr467Ter)
8g.125057587T>ACA372191300WASHC5c.1844A>T (p.Tyr615Phe)
c.1400A>T (p.Tyr467Phe)
8g.125057587T>CCA4873710WASHC5c.1844A>G (p.Tyr615Cys)
c.1400A>G (p.Tyr467Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.125057587T>GCA372191299WASHC5c.1844A>C (p.Tyr615Ser)
c.1400A>C (p.Tyr467Ser)
8g.125057587T=CA1817263358WASHC5c.1844A= (p.Tyr615=)
c.1400A= (p.Tyr467=)
8g.125057588A=CA1817263364WASHC5c.1843T= (p.Tyr615=)
c.1399T= (p.Tyr467=)
8g.125057588A>CCA372191301WASHC5c.1843T>G (p.Tyr615Asp)
c.1399T>G (p.Tyr467Asp)
 dbSNP gnomAD v2 gnomAD v4
8g.125057588A>GCA372191302WASHC5c.1843T>C (p.Tyr615His)
c.1399T>C (p.Tyr467His)
 dbSNP gnomAD v3 gnomAD v4
8g.125057588A>TCA372191303WASHC5c.1843T>A (p.Tyr615Asn)
c.1399T>A (p.Tyr467Asn)
8g.125057589G>ACA462769547WASHC5c.1842C>T (p.Tyr614=)
c.1398C>T (p.Tyr466=)
8g.125057589G>CCA372191304WASHC5c.1842C>G (p.Tyr614Ter)
c.1398C>G (p.Tyr466Ter)
8g.125057589G>TCA372191305WASHC5c.1842C>A (p.Tyr614Ter)
c.1398C>A (p.Tyr466Ter)
8g.125057590T>ACA372191306WASHC5c.1841A>T (p.Tyr614Phe)
c.1397A>T (p.Tyr466Phe)
8g.125057590T>CCA372191307WASHC5c.1841A>G (p.Tyr614Cys)
c.1397A>G (p.Tyr466Cys)
8g.125057590T>GCA372191308WASHC5c.1841A>C (p.Tyr614Ser)
c.1397A>C (p.Tyr466Ser)
8g.125057591A>CCA372191309WASHC5c.1840T>G (p.Tyr614Asp)
c.1396T>G (p.Tyr466Asp)
8g.125057591A>GCA372191310WASHC5c.1840T>C (p.Tyr614His)
c.1396T>C (p.Tyr466His)
 gnomAD v4
8g.125057591A>TCA372191311WASHC5c.1840T>A (p.Tyr614Asn)
c.1396T>A (p.Tyr466Asn)
8g.125057592C>ACA372191312WASHC5c.1839G>T (p.Gln613His)
c.1395G>T (p.Gln465His)
8g.125057592C=CA1817263370WASHC5c.1839G= (p.Gln613=)
c.1395G= (p.Gln465=)
8g.125057592C>GCA4873711WASHC5c.1839G>C (p.Gln613His)
c.1395G>C (p.Gln465His)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.125057592C>TCA462769549WASHC5c.1839G>A (p.Gln613=)
c.1395G>A (p.Gln465=)
8g.125057593T>ACA372191313WASHC5c.1838A>T (p.Gln613Leu)
c.1394A>T (p.Gln465Leu)
8g.125057593T>CCA372191314WASHC5c.1838A>G (p.Gln613Arg)
c.1394A>G (p.Gln465Arg)
8g.125057593T>GCA4873712WASHC5c.1838A>C (p.Gln613Pro)
c.1394A>C (p.Gln465Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.125057593T=CA1817263374WASHC5c.1838A= (p.Gln613=)
c.1394A= (p.Gln465=)
8g.125057594G>ACA372191315WASHC5c.1837C>T (p.Gln613Ter)
c.1393C>T (p.Gln465Ter)
 dbSNP gnomAD v4
8g.125057594G>CCA372191316WASHC5c.1837C>G (p.Gln613Glu)
c.1393C>G (p.Gln465Glu)
8g.125057594G=CA1817263377WASHC5c.1837C= (p.Gln613=)
c.1393C= (p.Gln465=)
8g.125057594G>TCA372191317WASHC5c.1837C>A (p.Gln613Lys)
c.1393C>A (p.Gln465Lys)
8g.125057595T>ACA462769551WASHC5c.1836A>T (p.Ser612=)
c.1392A>T (p.Ser464=)
8g.125057595T>CCA462769552WASHC5c.1836A>G (p.Ser612=)
c.1392A>G (p.Ser464=)
 dbSNP
8g.125057595T>GCA462769550WASHC5c.1836A>C (p.Ser612=)
c.1392A>C (p.Ser464=)
8g.125057596G>ACA372191318WASHC5c.1835C>T (p.Ser612Leu)
c.1391C>T (p.Ser464Leu)
 dbSNP gnomAD v4
8g.125057596G>CCA372191319WASHC5c.1835C>G (p.Ser612Ter)
c.1391C>G (p.Ser464Ter)
8g.125057596G=CA1817263382WASHC5c.1835C= (p.Ser612=)
c.1391C= (p.Ser464=)
8g.125057596G>TCA372191320WASHC5c.1835C>A (p.Ser612Ter)
c.1391C>A (p.Ser464Ter)
8g.125057597A>CCA372191321WASHC5c.1834T>G (p.Ser612Ala)
c.1390T>G (p.Ser464Ala)
8g.125057597A>GCA372191322WASHC5c.1834T>C (p.Ser612Pro)
c.1390T>C (p.Ser464Pro)
8g.125057597A>TCA372191323WASHC5c.1834T>A (p.Ser612Thr)
c.1390T>A (p.Ser464Thr)
8g.125057598C>ACA462769555WASHC5c.1833G>T (p.Val611=)
c.1389G>T (p.Val463=)
8g.125057598C>GCA462769554WASHC5c.1833G>C (p.Val611=)
c.1389G>C (p.Val463=)
8g.125057598C>TCA462769553WASHC5c.1833G>A (p.Val611=)
c.1389G>A (p.Val463=)
8g.125057599A>CCA372191326WASHC5c.1832T>G (p.Val611Gly)
c.1388T>G (p.Val463Gly)
8g.125057599A>GCA372191324WASHC5c.1832T>C (p.Val611Ala)
c.1388T>C (p.Val463Ala)
8g.125057599A>TCA372191325WASHC5c.1832T>A (p.Val611Glu)
c.1388T>A (p.Val463Glu)
8g.125057600C>ACA372191327WASHC5c.1831G>T (p.Val611Leu)
c.1387G>T (p.Val463Leu)
8g.125057600C=CA1817263386WASHC5c.1831G= (p.Val611=)
c.1387G= (p.Val463=)
8g.125057600C>GCA372191328WASHC5c.1831G>C (p.Val611Leu)
c.1387G>C (p.Val463Leu)
8g.125057600C>TCA372191329WASHC5c.1831G>A (p.Val611Met)
c.1387G>A (p.Val463Met)
 ClinVar dbSNP gnomAD v4
8g.125057601G>ACA4873713WASHC5c.1830C>T (p.Ser610=)
c.1386C>T (p.Ser462=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.125057601G>CCA372191330WASHC5c.1830C>G (p.Ser610Arg)
c.1386C>G (p.Ser462Arg)
8g.125057601G=CA1817263390WASHC5c.1830C= (p.Ser610=)
c.1386C= (p.Ser462=)
8g.125057601G>TCA372191331WASHC5c.1830C>A (p.Ser610Arg)
c.1386C>A (p.Ser462Arg)
8g.125057602C>ACA372191332WASHC5c.1829G>T (p.Ser610Ile)
c.1385G>T (p.Ser462Ile)
8g.125057602C>GCA372191333WASHC5c.1829G>C (p.Ser610Thr)
c.1385G>C (p.Ser462Thr)
8g.125057602C>TCA372191334WASHC5c.1829G>A (p.Ser610Asn)
c.1385G>A (p.Ser462Asn)
8g.125057603T>ACA372191335WASHC5c.1828A>T (p.Ser610Cys)
c.1384A>T (p.Ser462Cys)
8g.125057603T>CCA372191336WASHC5c.1828A>G (p.Ser610Gly)
c.1384A>G (p.Ser462Gly)
8g.125057603T>GCA372191337WASHC5c.1828A>C (p.Ser610Arg)
c.1384A>C (p.Ser462Arg)
8g.125057604G>ACA462769557WASHC5c.1827C>T (p.Leu609=)
c.1383C>T (p.Leu461=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.125057604G>CCA462769559WASHC5c.1827C>G (p.Leu609=)
c.1383C>G (p.Leu461=)
8g.125057604G=CA1817263393WASHC5c.1827C= (p.Leu609=)
c.1383C= (p.Leu461=)
8g.125057604G>TCA462769561WASHC5c.1827C>A (p.Leu609=)
c.1383C>A (p.Leu461=)
8g.125057605A=CA1817263395WASHC5c.1826T= (p.Leu609=)
c.1382T= (p.Leu461=)
8g.125057605A>CCA372191339WASHC5c.1826T>G (p.Leu609Arg)
c.1382T>G (p.Leu461Arg)
8g.125057605A>GCA372191340WASHC5c.1826T>C (p.Leu609Pro)
c.1382T>C (p.Leu461Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.125057605A>TCA372191338WASHC5c.1826T>A (p.Leu609His)
c.1382T>A (p.Leu461His)
8g.125057606G>ACA372191343WASHC5c.1825C>T (p.Leu609Phe)
c.1381C>T (p.Leu461Phe)
8g.125057606G>CCA372191341WASHC5c.1825C>G (p.Leu609Val)
c.1381C>G (p.Leu461Val)
 dbSNP
8g.125057606G=CA1817263400WASHC5c.1825C= (p.Leu609=)
c.1381C= (p.Leu461=)
8g.125057606G>TCA372191342WASHC5c.1825C>A (p.Leu609Ile)
c.1381C>A (p.Leu461Ile)
8g.125057607C>ACA462769566WASHC5c.1824G>T (p.Leu608=)
c.1380G>T (p.Leu460=)
8g.125057607C=CA1817263403WASHC5c.1824G= (p.Leu608=)
c.1380G= (p.Leu460=)
8g.125057607C>GCA462769567WASHC5c.1824G>C (p.Leu608=)
c.1380G>C (p.Leu460=)
8g.125057607C>TCA462769568WASHC5c.1824G>A (p.Leu608=)
c.1380G>A (p.Leu460=)
 dbSNP gnomAD v2
8g.125057608A=CA1817263406WASHC5c.1823T= (p.Leu608=)
c.1379T= (p.Leu460=)
8g.125057608A>CCA372191344WASHC5c.1823T>G (p.Leu608Arg)
c.1379T>G (p.Leu460Arg)
8g.125057608A>GCA372191345WASHC5c.1823T>C (p.Leu608Pro)
c.1379T>C (p.Leu460Pro)
8g.125057608A>TCA4873714WASHC5c.1823T>A (p.Leu608Gln)
c.1379T>A (p.Leu460Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.125057609G>ACA462769572WASHC5c.1822C>T (p.Leu608=)
c.1378C>T (p.Leu460=)
8g.125057609G>CCA372191346WASHC5c.1822C>G (p.Leu608Val)
c.1378C>G (p.Leu460Val)
 dbSNP gnomAD v3 gnomAD v4
8g.125057609G=CA1817263409WASHC5c.1822C= (p.Leu608=)
c.1378C= (p.Leu460=)
8g.125057609G>TCA372191347WASHC5c.1822C>A (p.Leu608Met)
c.1378C>A (p.Leu460Met)
 gnomAD v4
8g.125057610G>ACA462769575WASHC5c.1821C>T (p.Asp607=)
c.1377C>T (p.Asp459=)
 dbSNP gnomAD v2 gnomAD v4
8g.125057610G>CCA372191348WASHC5c.1821C>G (p.Asp607Glu)
c.1377C>G (p.Asp459Glu)
8g.125057610G=CA1817263412WASHC5c.1821C= (p.Asp607=)
c.1377C= (p.Asp459=)
8g.125057610G>TCA372191349WASHC5c.1821C>A (p.Asp607Glu)
c.1377C>A (p.Asp459Glu)
8g.125057611T>ACA372191350WASHC5c.1820A>T (p.Asp607Val)
c.1376A>T (p.Asp459Val)
8g.125057611T>CCA372191351WASHC5c.1820A>G (p.Asp607Gly)
c.1376A>G (p.Asp459Gly)
8g.125057611T>GCA372191352WASHC5c.1820A>C (p.Asp607Ala)
c.1376A>C (p.Asp459Ala)
8g.125057612C>ACA372191355WASHC5c.1819G>T (p.Asp607Tyr)
c.1375G>T (p.Asp459Tyr)
 gnomAD v4
8g.125057612C>GCA372191353WASHC5c.1819G>C (p.Asp607His)
c.1375G>C (p.Asp459His)
8g.125057612C>TCA372191354WASHC5c.1819G>A (p.Asp607Asn)
c.1375G>A (p.Asp459Asn)
8g.125057613G>ACA4873715WASHC5c.1818C>T (p.Pro606=)
c.1374C>T (p.Pro458=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.125057613G>CCA462769581WASHC5c.1818C>G (p.Pro606=)
c.1374C>G (p.Pro458=)
8g.125057613G=CA1817263417WASHC5c.1818C= (p.Pro606=)
c.1374C= (p.Pro458=)
8g.125057613G>TCA462769582WASHC5c.1818C>A (p.Pro606=)
c.1374C>A (p.Pro458=)
 dbSNP
8g.125057614G>ACA372191356WASHC5c.1817C>T (p.Pro606Leu)
c.1373C>T (p.Pro458Leu)
 dbSNP gnomAD v2
8g.125057614G>CCA372191357WASHC5c.1817C>G (p.Pro606Arg)
c.1373C>G (p.Pro458Arg)
 COSMIC
8g.125057614G=CA1817263421WASHC5c.1817C= (p.Pro606=)
c.1373C= (p.Pro458=)
8g.125057614G>TCA372191358WASHC5c.1817C>A (p.Pro606His)
c.1373C>A (p.Pro458His)
8g.125057615G>ACA372191359WASHC5c.1816C>T (p.Pro606Ser)
c.1372C>T (p.Pro458Ser)
8g.125057615G>CCA372191360WASHC5c.1816C>G (p.Pro606Ala)
c.1372C>G (p.Pro458Ala)
8g.125057615G>TCA372191361WASHC5c.1816C>A (p.Pro606Thr)
c.1372C>A (p.Pro458Thr)
8g.125057615_125057617delCA2688510124WASHC5c.1814_1816del (p.Ser605_Pro606delinsThr)
c.1370_1372del (p.Ser457_Pro458delinsThr)
 gnomAD v4
8g.125057616G>ACA462769590WASHC5c.1815C>T (p.Ser605=)
c.1371C>T (p.Ser457=)
 gnomAD v4
8g.125057616G>CCA372191362WASHC5c.1815C>G (p.Ser605Arg)
c.1371C>G (p.Ser457Arg)
8g.125057616G>TCA372191363WASHC5c.1815C>A (p.Ser605Arg)
c.1371C>A (p.Ser457Arg)
 gnomAD v4
8g.125057617C>ACA372191364WASHC5c.1814G>T (p.Ser605Ile)
c.1370G>T (p.Ser457Ile)
8g.125057617C>GCA372191365WASHC5c.1814G>C (p.Ser605Thr)
c.1370G>C (p.Ser457Thr)
8g.125057617C>TCA372191366WASHC5c.1814G>A (p.Ser605Asn)
c.1370G>A (p.Ser457Asn)
8g.125057618T>ACA372191368WASHC5c.1813A>T (p.Ser605Cys)
c.1369A>T (p.Ser457Cys)
8g.125057618T>CCA372191369WASHC5c.1813A>G (p.Ser605Gly)
c.1369A>G (p.Ser457Gly)
8g.125057618T>GCA372191367WASHC5c.1813A>C (p.Ser605Arg)
c.1369A>C (p.Ser457Arg)
8g.125057619A=CA1817263423WASHC5c.1812T= (p.Asn604=)
c.1368T= (p.Asn456=)
8g.125057619A>CCA372191370WASHC5c.1812T>G (p.Asn604Lys)
c.1368T>G (p.Asn456Lys)
8g.125057619A>GCA462769596WASHC5c.1812T>C (p.Asn604=)
c.1368T>C (p.Asn456=)
 dbSNP gnomAD v2 gnomAD v4
8g.125057619A>TCA372191371WASHC5c.1812T>A (p.Asn604Lys)
c.1368T>A (p.Asn456Lys)
8g.125057620T>ACA372191372WASHC5c.1811A>T (p.Asn604Ile)
c.1367A>T (p.Asn456Ile)
8g.125057620T>CCA372191373WASHC5c.1811A>G (p.Asn604Ser)
c.1367A>G (p.Asn456Ser)
 gnomAD v4
8g.125057620T>GCA372191374WASHC5c.1811A>C (p.Asn604Thr)
c.1367A>C (p.Asn456Thr)
8g.125057621T>ACA372191375WASHC5c.1810A>T (p.Asn604Tyr)
c.1366A>T (p.Asn456Tyr)
8g.125057621T>CCA4873716WASHC5c.1810A>G (p.Asn604Asp)
c.1366A>G (p.Asn456Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.125057621T>GCA372191376WASHC5c.1810A>C (p.Asn604His)
c.1366A>C (p.Asn456His)
8g.125057621T=CA1817263427WASHC5c.1810A= (p.Asn604=)
c.1366A= (p.Asn456=)
8g.125057622T>ACA462769606WASHC5c.1809A>T (p.Ala603=)
c.1365A>T (p.Ala455=)
8g.125057622T>CCA462769602WASHC5c.1809A>G (p.Ala603=)
c.1365A>G (p.Ala455=)
 gnomAD v4
8g.125057622T>GCA462769604WASHC5c.1809A>C (p.Ala603=)
c.1365A>C (p.Ala455=)
8g.125057623G>ACA372191377WASHC5c.1808C>T (p.Ala603Val)
c.1364C>T (p.Ala455Val)
 gnomAD v4
8g.125057623G>CCA372191378WASHC5c.1808C>G (p.Ala603Gly)
c.1364C>G (p.Ala455Gly)
8g.125057623G=CA1817263431WASHC5c.1808C= (p.Ala603=)
c.1364C= (p.Ala455=)
8g.125057623G>TCA372191379WASHC5c.1808C>A (p.Ala603Glu)
c.1364C>A (p.Ala455Glu)
 dbSNP
8g.125057624C>ACA372191380WASHC5c.1807G>T (p.Ala603Ser)
c.1363G>T (p.Ala455Ser)
8g.125057624C=CA1817263433WASHC5c.1807G= (p.Ala603=)
c.1363G= (p.Ala455=)
8g.125057624C>GCA372191381WASHC5c.1807G>C (p.Ala603Pro)
c.1363G>C (p.Ala455Pro)
8g.125057624C>TCA372191382WASHC5c.1807G>A (p.Ala603Thr)
c.1363G>A (p.Ala455Thr)
 dbSNP gnomAD v4
8g.125057625C>ACA372191383WASHC5c.1806G>T (p.Gln602His)
c.1362G>T (p.Gln454His)
8g.125057625C>GCA372191384WASHC5c.1806G>C (p.Gln602His)
c.1362G>C (p.Gln454His)
8g.125057625C>TCA462769612WASHC5c.1806G>A (p.Gln602=)
c.1362G>A (p.Gln454=)
8g.125057626T>ACA372191385WASHC5c.1805A>T (p.Gln602Leu)
c.1361A>T (p.Gln454Leu)
8g.125057626T>CCA372191386WASHC5c.1805A>G (p.Gln602Arg)
c.1361A>G (p.Gln454Arg)
 COSMIC
8g.125057626T>GCA372191387WASHC5c.1805A>C (p.Gln602Pro)
c.1361A>C (p.Gln454Pro)
8g.125057627G>ACA372191388WASHC5c.1804C>T (p.Gln602Ter)
c.1360C>T (p.Gln454Ter)
8g.125057627G>CCA372191389WASHC5c.1804C>G (p.Gln602Glu)
c.1360C>G (p.Gln454Glu)
8g.125057627G>TCA372191390WASHC5c.1804C>A (p.Gln602Lys)
c.1360C>A (p.Gln454Lys)
8g.125057628A>CCA372191391WASHC5c.1803T>G (p.Asn601Lys)
c.1359T>G (p.Asn453Lys)
8g.125057628A>GCA462769616WASHC5c.1803T>C (p.Asn601=)
c.1359T>C (p.Asn453=)
8g.125057628A>TCA372191392WASHC5c.1803T>A (p.Asn601Lys)
c.1359T>A (p.Asn453Lys)
8g.125057629T>ACA372191393WASHC5c.1802A>T (p.Asn601Ile)
c.1358A>T (p.Asn453Ile)
 gnomAD v4
8g.125057629T>CCA372191394WASHC5c.1802A>G (p.Asn601Ser)
c.1358A>G (p.Asn453Ser)
 dbSNP gnomAD v2
8g.125057629T>GCA372191395WASHC5c.1802A>C (p.Asn601Thr)
c.1358A>C (p.Asn453Thr)
 gnomAD v4
8g.125057629T=CA1817263435WASHC5c.1802A= (p.Asn601=)
c.1358A= (p.Asn453=)
8g.125057630T>ACA372191396WASHC5c.1801A>T (p.Asn601Tyr)
c.1357A>T (p.Asn453Tyr)
8g.125057630T>CCA372191397WASHC5c.1801A>G (p.Asn601Asp)
c.1357A>G (p.Asn453Asp)
8g.125057630T>GCA372191398WASHC5c.1801A>C (p.Asn601His)
c.1357A>C (p.Asn453His)
8g.125057631A>CCA372191399WASHC5c.1800T>G (p.Ile600Met)
c.1356T>G (p.Ile452Met)
8g.125057631A>GCA462769620WASHC5c.1800T>C (p.Ile600=)
c.1356T>C (p.Ile452=)
8g.125057631A>TCA462769622WASHC5c.1800T>A (p.Ile600=)
c.1356T>A (p.Ile452=)
8g.125057632A>CCA372191401WASHC5c.1799T>G (p.Ile600Ser)
c.1355T>G (p.Ile452Ser)
8g.125057632A>GCA372191400WASHC5c.1799T>C (p.Ile600Thr)
c.1355T>C (p.Ile452Thr)
8g.125057632A>TCA372191402WASHC5c.1799T>A (p.Ile600Asn)
c.1355T>A (p.Ile452Asn)
8g.125057633T>ACA372191403WASHC5c.1798A>T (p.Ile600Phe)
c.1354A>T (p.Ile452Phe)
 gnomAD v4
8g.125057633T>CCA372191405WASHC5c.1798A>G (p.Ile600Val)
c.1354A>G (p.Ile452Val)
 gnomAD v4
8g.125057633T>GCA372191404WASHC5c.1798A>C (p.Ile600Leu)
c.1354A>C (p.Ile452Leu)
8g.125057634A>CCA462769627WASHC5c.1797T>G (p.Arg599=)
c.1353T>G (p.Arg451=)
8g.125057634A>GCA462769628WASHC5c.1797T>C (p.Arg599=)
c.1353T>C (p.Arg451=)
8g.125057634A>TCA462769630WASHC5c.1797T>A (p.Arg599=)
c.1353T>A (p.Arg451=)
8g.125057635C>ACA372191406WASHC5c.1796G>T (p.Arg599Leu)
c.1352G>T (p.Arg451Leu)
8g.125057635C=CA1817263437WASHC5c.1796G= (p.Arg599=)
c.1352G= (p.Arg451=)
8g.125057635C>GCA372191407WASHC5c.1796G>C (p.Arg599Pro)
c.1352G>C (p.Arg451Pro)
8g.125057635C>TCA4873717WASHC5c.1796G>A (p.Arg599His)
c.1352G>A (p.Arg451His)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.125057636G>ACA4873718WASHC5c.1795C>T (p.Arg599Cys)
c.1351C>T (p.Arg451Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.125057636G>CCA372191408WASHC5c.1795C>G (p.Arg599Gly)
c.1351C>G (p.Arg451Gly)
8g.125057636G=CA1817263439WASHC5c.1795C= (p.Arg599=)
c.1351C= (p.Arg451=)
8g.125057636G>TCA372191409WASHC5c.1795C>A (p.Arg599Ser)
c.1351C>A (p.Arg451Ser)
8g.125057640_125057642delCA2688510125WASHC5c.1793_1795del (p.Leu598del)
c.1349_1351del (p.Leu450del)
 gnomAD v4
8g.125057637A>CCA462769635WASHC5c.1794T>G (p.Leu598=)
c.1350T>G (p.Leu450=)
8g.125057637A>GCA462769636WASHC5c.1794T>C (p.Leu598=)
c.1350T>C (p.Leu450=)
8g.125057637A>TCA462769637WASHC5c.1794T>A (p.Leu598=)
c.1350T>A (p.Leu450=)
8g.125057638A>CCA372191410WASHC5c.1793T>G (p.Leu598Arg)
c.1349T>G (p.Leu450Arg)
8g.125057638A>GCA372191411WASHC5c.1793T>C (p.Leu598Pro)
c.1349T>C (p.Leu450Pro)
8g.125057638A>TCA372191412WASHC5c.1793T>A (p.Leu598His)
c.1349T>A (p.Leu450His)
8g.125057639G>ACA372191413WASHC5c.1792C>T (p.Leu598Phe)
c.1348C>T (p.Leu450Phe)
8g.125057639G>CCA372191414WASHC5c.1792C>G (p.Leu598Val)
c.1348C>G (p.Leu450Val)
8g.125057639G>TCA372191415WASHC5c.1792C>A (p.Leu598Ile)
c.1348C>A (p.Leu450Ile)
8g.125057640A>CCA462769642WASHC5c.1791T>G (p.Leu597=)
c.1347T>G (p.Leu449=)
8g.125057640A>GCA462769643WASHC5c.1791T>C (p.Leu597=)
c.1347T>C (p.Leu449=)
8g.125057640A>TCA462769644WASHC5c.1791T>A (p.Leu597=)
c.1347T>A (p.Leu449=)
8g.125057641A>CCA372191416WASHC5c.1790T>G (p.Leu597Arg)
c.1346T>G (p.Leu449Arg)
8g.125057641A>GCA372191417WASHC5c.1790T>C (p.Leu597Pro)
c.1346T>C (p.Leu449Pro)
8g.125057641A>TCA372191418WASHC5c.1790T>A (p.Leu597His)
c.1346T>A (p.Leu449His)
8g.125057643_125057648dupCA2688510126WASHC5c.1785_1790dup (p.Leu597_Leu598insProLeu)
c.1341_1346dup (p.Leu449_Leu450insProLeu)
 gnomAD v4
8g.125057642G>ACA372191419WASHC5c.1789C>T (p.Leu597Phe)
c.1345C>T (p.Leu449Phe)
8g.125057642G>CCA372191421WASHC5c.1789C>G (p.Leu597Val)
c.1345C>G (p.Leu449Val)
8g.125057642G>TCA372191420WASHC5c.1789C>A (p.Leu597Ile)
c.1345C>A (p.Leu449Ile)
8g.125057645delCA2688510127WASHC5c.1789del (p.Leu597PhefsTer27)
c.1345del (p.Leu449PhefsTer27)
 gnomAD v4
8g.125057643G>ACA462769650WASHC5c.1788C>T (p.Pro596=)
c.1344C>T (p.Pro448=)
8g.125057643G>CCA4873719WASHC5c.1788C>G (p.Pro596=)
c.1344C>G (p.Pro448=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.125057643G=CA1817263440WASHC5c.1788C= (p.Pro596=)
c.1344C= (p.Pro448=)
8g.125057643G>TCA462769652WASHC5c.1788C>A (p.Pro596=)
c.1344C>A (p.Pro448=)
8g.125057644G>ACA372191422WASHC5c.1787C>T (p.Pro596Leu)
c.1343C>T (p.Pro448Leu)
 gnomAD v4
8g.125057644G>CCA372191423WASHC5c.1787C>G (p.Pro596Arg)
c.1343C>G (p.Pro448Arg)
8g.125057644G>TCA372191424WASHC5c.1787C>A (p.Pro596His)
c.1343C>A (p.Pro448His)
8g.125057645G>ACA372191425WASHC5c.1786C>T (p.Pro596Ser)
c.1342C>T (p.Pro448Ser)
8g.125057645G>CCA372191426WASHC5c.1786C>G (p.Pro596Ala)
c.1342C>G (p.Pro448Ala)
8g.125057645G>TCA372191427WASHC5c.1786C>A (p.Pro596Thr)
c.1342C>A (p.Pro448Thr)
8g.125057646C>ACA185306013WASHC5c.1785G>T (p.Leu595=)
c.1341G>T (p.Leu447=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.125057646C=CA1817263443WASHC5c.1785G= (p.Leu595=)
c.1341G= (p.Leu447=)
8g.125057646C>GCA462769657WASHC5c.1785G>C (p.Leu595=)
c.1341G>C (p.Leu447=)
 gnomAD v4
8g.125057646C>TCA462769658WASHC5c.1785G>A (p.Leu595=)
c.1341G>A (p.Leu447=)
8g.125057647A>CCA372191428WASHC5c.1784T>G (p.Leu595Arg)
c.1340T>G (p.Leu447Arg)
8g.125057647A>GCA372191429WASHC5c.1784T>C (p.Leu595Pro)
c.1340T>C (p.Leu447Pro)
8g.125057647A>TCA372191430WASHC5c.1784T>A (p.Leu595Gln)
c.1340T>A (p.Leu447Gln)
8g.125057648G>ACA462769662WASHC5c.1783C>T (p.Leu595=)
c.1339C>T (p.Leu447=)
 gnomAD v4
8g.125057648G>CCA372191432WASHC5c.1783C>G (p.Leu595Val)
c.1339C>G (p.Leu447Val)
8g.125057648G>TCA372191431WASHC5c.1783C>A (p.Leu595Met)
c.1339C>A (p.Leu447Met)
8g.125057650_125057653delCA2688510128WASHC5c.1780_1783del (p.Asp594CysfsTer29)
c.1336_1339del (p.Asp446CysfsTer29)
 gnomAD v4
8g.125057649A>CCA372191433WASHC5c.1782T>G (p.Asp594Glu)
c.1338T>G (p.Asp446Glu)
8g.125057649A>GCA462769665WASHC5c.1782T>C (p.Asp594=)
c.1338T>C (p.Asp446=)
8g.125057649A>TCA372191434WASHC5c.1782T>A (p.Asp594Glu)
c.1338T>A (p.Asp446Glu)
8g.125057650T>ACA372191435WASHC5c.1781A>T (p.Asp594Val)
c.1337A>T (p.Asp446Val)
 gnomAD v4
8g.125057650T>CCA372191436WASHC5c.1781A>G (p.Asp594Gly)
c.1337A>G (p.Asp446Gly)
8g.125057650T>GCA372191437WASHC5c.1781A>C (p.Asp594Ala)
c.1337A>C (p.Asp446Ala)
8g.125057651C>ACA372191438WASHC5c.1780G>T (p.Asp594Tyr)
c.1336G>T (p.Asp446Tyr)
 gnomAD v4
8g.125057651C=CA1817263445WASHC5c.1780G= (p.Asp594=)
c.1336G= (p.Asp446=)
8g.125057651C>GCA372191439WASHC5c.1780G>C (p.Asp594His)
c.1336G>C (p.Asp446His)
8g.125057651C>TCA4873720WASHC5c.1780G>A (p.Asp594Asn)
c.1336G>A (p.Asp446Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.125057652G>ACA4873721WASHC5c.1779C>T (p.Leu593=)
c.1335C>T (p.Leu445=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.125057652G>CCA4873722WASHC5c.1779C>G (p.Leu593=)
c.1335C>G (p.Leu445=)
 dbSNP ExAC gnomAD v3 gnomAD v4
8g.125057652G=CA1817263449WASHC5c.1779C= (p.Leu593=)
c.1335C= (p.Leu445=)
8g.125057652G>TCA462769672WASHC5c.1779C>A (p.Leu593=)
c.1335C>A (p.Leu445=)
8g.125057653A>CCA372191440WASHC5c.1778T>G (p.Leu593Arg)
c.1334T>G (p.Leu445Arg)
8g.125057653A>GCA372191441WASHC5c.1778T>C (p.Leu593Pro)
c.1334T>C (p.Leu445Pro)
8g.125057653A>TCA372191442WASHC5c.1778T>A (p.Leu593His)
c.1334T>A (p.Leu445His)
8g.125057654G>ACA372191445WASHC5c.1777C>T (p.Leu593Phe)
c.1333C>T (p.Leu445Phe)
8g.125057654G>CCA372191443WASHC5c.1777C>G (p.Leu593Val)
c.1333C>G (p.Leu445Val)
8g.125057654G>TCA372191444WASHC5c.1777C>A (p.Leu593Ile)
c.1333C>A (p.Leu445Ile)
8g.125057655G>ACA462769677WASHC5c.1776C>T (p.Ala592=)
c.1332C>T (p.Ala444=)
 gnomAD v4
8g.125057655G>CCA462769678WASHC5c.1776C>G (p.Ala592=)
c.1332C>G (p.Ala444=)
 dbSNP
8g.125057655G=CA1817263451WASHC5c.1776C= (p.Ala592=)
c.1332C= (p.Ala444=)
8g.125057655G>TCA462769680WASHC5c.1776C>A (p.Ala592=)
c.1332C>A (p.Ala444=)
8g.125057656G>ACA372191446WASHC5c.1775C>T (p.Ala592Val)
c.1331C>T (p.Ala444Val)
8g.125057656G>CCA372191447WASHC5c.1775C>G (p.Ala592Gly)
c.1331C>G (p.Ala444Gly)
8g.125057656G>TCA372191448WASHC5c.1775C>A (p.Ala592Asp)
c.1331C>A (p.Ala444Asp)
 gnomAD v4
8g.125057657C>ACA372191449WASHC5c.1774G>T (p.Ala592Ser)
c.1330G>T (p.Ala444Ser)
8g.125057657C>GCA372191450WASHC5c.1774G>C (p.Ala592Pro)
c.1330G>C (p.Ala444Pro)
8g.125057657C>TCA372191451WASHC5c.1774G>A (p.Ala592Thr)
c.1330G>A (p.Ala444Thr)
8g.125057658A=CA1817263454WASHC5c.1773T= (p.Ser591=)
c.1329T= (p.Ser443=)
8g.125057658A>CCA462769685WASHC5c.1773T>G (p.Ser591=)
c.1329T>G (p.Ser443=)
8g.125057658A>GCA462769686WASHC5c.1773T>C (p.Ser591=)
c.1329T>C (p.Ser443=)
 dbSNP
8g.125057658A>TCA462769687WASHC5c.1773T>A (p.Ser591=)
c.1329T>A (p.Ser443=)
8g.125057659G>ACA372191452WASHC5c.1772C>T (p.Ser591Phe)
c.1328C>T (p.Ser443Phe)
 ClinVar dbSNP
8g.125057659G>CCA372191453WASHC5c.1772C>G (p.Ser591Cys)
c.1328C>G (p.Ser443Cys)
8g.125057659G=CA1817263456WASHC5c.1772C= (p.Ser591=)
c.1328C= (p.Ser443=)
8g.125057659G>TCA372191454WASHC5c.1772C>A (p.Ser591Tyr)
c.1328C>A (p.Ser443Tyr)

Number of alleles fetched