Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.113064072T>ACA360626186MCCc.1555A>T (p.Lys519Ter)
c.2125A>T (p.Lys709Ter)
c.1366A>T (p.Lys456Ter)
c.1525A>T (p.Lys509Ter)
5g.113064072T>CCA360626187MCCc.1555A>G (p.Lys519Glu)
c.2125A>G (p.Lys709Glu)
c.1366A>G (p.Lys456Glu)
c.1525A>G (p.Lys509Glu)
5g.113064072T>GCA3370021MCCc.1555A>C (p.Lys519Gln)
c.2125A>C (p.Lys709Gln)
c.1366A>C (p.Lys456Gln)
c.1525A>C (p.Lys509Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.113064072T=CA1573632531MCCc.1555A= (p.Lys519=)
c.2125A= (p.Lys709=)
c.1366A= (p.Lys456=)
c.1525A= (p.Lys509=)
5g.113064073C>ACA360626188MCCc.1554G>T (p.Met518Ile)
c.2124G>T (p.Met708Ile)
c.1365G>T (p.Met455Ile)
c.1524G>T (p.Met508Ile)
5g.113064073C>GCA360626190MCCc.1554G>C (p.Met518Ile)
c.2124G>C (p.Met708Ile)
c.1365G>C (p.Met455Ile)
c.1524G>C (p.Met508Ile)
5g.113064073C>TCA360626189MCCc.1554G>A (p.Met518Ile)
c.2124G>A (p.Met708Ile)
c.1365G>A (p.Met455Ile)
c.1524G>A (p.Met508Ile)
 gnomAD v4
5g.113064074A>CCA360626191MCCc.1553T>G (p.Met518Arg)
c.2123T>G (p.Met708Arg)
c.1364T>G (p.Met455Arg)
c.1523T>G (p.Met508Arg)
5g.113064074A>GCA360626192MCCc.1553T>C (p.Met518Thr)
c.2123T>C (p.Met708Thr)
c.1364T>C (p.Met455Thr)
c.1523T>C (p.Met508Thr)
 gnomAD v4 COSMIC COSMIC
5g.113064074A>TCA360626193MCCc.1553T>A (p.Met518Lys)
c.2123T>A (p.Met708Lys)
c.1364T>A (p.Met455Lys)
c.1523T>A (p.Met508Lys)
5g.113064075T>ACA360626194MCCc.1552A>T (p.Met518Leu)
c.2122A>T (p.Met708Leu)
c.1363A>T (p.Met455Leu)
c.1522A>T (p.Met508Leu)
5g.113064075T>CCA360626195MCCc.1552A>G (p.Met518Val)
c.2122A>G (p.Met708Val)
c.1363A>G (p.Met455Val)
c.1522A>G (p.Met508Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.113064075T>GCA360626196MCCc.1552A>C (p.Met518Leu)
c.2122A>C (p.Met708Leu)
c.1363A>C (p.Met455Leu)
c.1522A>C (p.Met508Leu)
5g.113064075T=CA1573632532MCCc.1552A= (p.Met518=)
c.2122A= (p.Met708=)
c.1363A= (p.Met455=)
c.1522A= (p.Met508=)
5g.113064076G>ACA3370022MCCc.1551C>T (p.Leu517=)
c.2121C>T (p.Leu707=)
c.1362C>T (p.Leu454=)
c.1521C>T (p.Leu507=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.113064076G>CCA445979327MCCc.1551C>G (p.Leu517=)
c.2121C>G (p.Leu707=)
c.1362C>G (p.Leu454=)
c.1521C>G (p.Leu507=)
 gnomAD v4
5g.113064076G=CA1573632533MCCc.1551C= (p.Leu517=)
c.2121C= (p.Leu707=)
c.1362C= (p.Leu454=)
c.1521C= (p.Leu507=)
5g.113064076G>TCA445979329MCCc.1551C>A (p.Leu517=)
c.2121C>A (p.Leu707=)
c.1362C>A (p.Leu454=)
c.1521C>A (p.Leu507=)
5g.113064077A>CCA360626197MCCc.1550T>G (p.Leu517Arg)
c.2120T>G (p.Leu707Arg)
c.1361T>G (p.Leu454Arg)
c.1520T>G (p.Leu507Arg)
5g.113064077A>GCA360626198MCCc.1550T>C (p.Leu517Pro)
c.2120T>C (p.Leu707Pro)
c.1361T>C (p.Leu454Pro)
c.1520T>C (p.Leu507Pro)
5g.113064077A>TCA360626199MCCc.1550T>A (p.Leu517His)
c.2120T>A (p.Leu707His)
c.1361T>A (p.Leu454His)
c.1520T>A (p.Leu507His)
5g.113064078G>ACA360626202MCCc.1549C>T (p.Leu517Phe)
c.2119C>T (p.Leu707Phe)
c.1360C>T (p.Leu454Phe)
c.1519C>T (p.Leu507Phe)
 dbSNP
5g.113064078G>CCA360626201MCCc.1549C>G (p.Leu517Val)
c.2119C>G (p.Leu707Val)
c.1360C>G (p.Leu454Val)
c.1519C>G (p.Leu507Val)
5g.113064078G=CA1573632534MCCc.1549C= (p.Leu517=)
c.2119C= (p.Leu707=)
c.1360C= (p.Leu454=)
c.1519C= (p.Leu507=)
5g.113064078G>TCA360626200MCCc.1549C>A (p.Leu517Ile)
c.2119C>A (p.Leu707Ile)
c.1360C>A (p.Leu454Ile)
c.1519C>A (p.Leu507Ile)
5g.113064079C>ACA445979333MCCc.1548G>T (p.Leu516=)
c.2118G>T (p.Leu706=)
c.1359G>T (p.Leu453=)
c.1518G>T (p.Leu506=)
5g.113064079C>GCA445979334MCCc.1548G>C (p.Leu516=)
c.2118G>C (p.Leu706=)
c.1359G>C (p.Leu453=)
c.1518G>C (p.Leu506=)
 gnomAD v4
5g.113064079C>TCA445979335MCCc.1548G>A (p.Leu516=)
c.2118G>A (p.Leu706=)
c.1359G>A (p.Leu453=)
c.1518G>A (p.Leu506=)
5g.113064080A>CCA360626203MCCc.1547T>G (p.Leu516Arg)
c.2117T>G (p.Leu706Arg)
c.1358T>G (p.Leu453Arg)
c.1517T>G (p.Leu506Arg)
5g.113064080A>GCA360626204MCCc.1547T>C (p.Leu516Pro)
c.2117T>C (p.Leu706Pro)
c.1358T>C (p.Leu453Pro)
c.1517T>C (p.Leu506Pro)
5g.113064080A>TCA360626205MCCc.1547T>A (p.Leu516Gln)
c.2117T>A (p.Leu706Gln)
c.1358T>A (p.Leu453Gln)
c.1517T>A (p.Leu506Gln)
 gnomAD v4
5g.113064081G>ACA445979337MCCc.1546C>T (p.Leu516=)
c.2116C>T (p.Leu706=)
c.1357C>T (p.Leu453=)
c.1516C>T (p.Leu506=)
 gnomAD v4
5g.113064081G>CCA360626206MCCc.1546C>G (p.Leu516Val)
c.2116C>G (p.Leu706Val)
c.1357C>G (p.Leu453Val)
c.1516C>G (p.Leu506Val)
 dbSNP gnomAD v3 gnomAD v4
5g.113064081G=CA1573632535MCCc.1546C= (p.Leu516=)
c.2116C= (p.Leu706=)
c.1357C= (p.Leu453=)
c.1516C= (p.Leu506=)
5g.113064081G>TCA360626207MCCc.1546C>A (p.Leu516Met)
c.2116C>A (p.Leu706Met)
c.1357C>A (p.Leu453Met)
c.1516C>A (p.Leu506Met)
5g.113064082G>ACA124994697MCCc.1545C>T (p.Ala515=)
c.2115C>T (p.Ala705=)
c.1356C>T (p.Ala452=)
c.1515C>T (p.Ala505=)
 dbSNP gnomAD v2 gnomAD v4
5g.113064082G>CCA445979338MCCc.1545C>G (p.Ala515=)
c.2115C>G (p.Ala705=)
c.1356C>G (p.Ala452=)
c.1515C>G (p.Ala505=)
5g.113064082G=CA1573632536MCCc.1545C= (p.Ala515=)
c.2115C= (p.Ala705=)
c.1356C= (p.Ala452=)
c.1515C= (p.Ala505=)
5g.113064082G>TCA445979340MCCc.1545C>A (p.Ala515=)
c.2115C>A (p.Ala705=)
c.1356C>A (p.Ala452=)
c.1515C>A (p.Ala505=)
5g.113064083G>ACA360626208MCCc.1544C>T (p.Ala515Val)
c.2114C>T (p.Ala705Val)
c.1355C>T (p.Ala452Val)
c.1514C>T (p.Ala505Val)
 dbSNP
5g.113064083G>CCA3370023MCCc.1544C>G (p.Ala515Gly)
c.2114C>G (p.Ala705Gly)
c.1355C>G (p.Ala452Gly)
c.1514C>G (p.Ala505Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.113064083G=CA1573632537MCCc.1544C= (p.Ala515=)
c.2114C= (p.Ala705=)
c.1355C= (p.Ala452=)
c.1514C= (p.Ala505=)
5g.113064083G>TCA360626209MCCc.1544C>A (p.Ala515Asp)
c.2114C>A (p.Ala705Asp)
c.1355C>A (p.Ala452Asp)
c.1514C>A (p.Ala505Asp)
5g.113064084C>ACA360626210MCCc.1543G>T (p.Ala515Ser)
c.2113G>T (p.Ala705Ser)
c.1354G>T (p.Ala452Ser)
c.1513G>T (p.Ala505Ser)
 gnomAD v4
5g.113064084C>GCA360626211MCCc.1543G>C (p.Ala515Pro)
c.2113G>C (p.Ala705Pro)
c.1354G>C (p.Ala452Pro)
c.1513G>C (p.Ala505Pro)
5g.113064084C>TCA360626212MCCc.1543G>A (p.Ala515Thr)
c.2113G>A (p.Ala705Thr)
c.1354G>A (p.Ala452Thr)
c.1513G>A (p.Ala505Thr)
 gnomAD v4
5g.113064085dupCA2578380796MCCc.1543dup (p.Ala515GlyfsTer?)
c.2113dup (p.Ala705GlyfsTer?)
c.1354dup (p.Ala452GlyfsTer?)
c.1513dup (p.Ala505GlyfsTer?)
 gnomAD v4
5g.113064085C>ACA360626213MCCc.1542G>T (p.Lys514Asn)
c.2112G>T (p.Lys704Asn)
c.1353G>T (p.Lys451Asn)
c.1512G>T (p.Lys504Asn)
5g.113064085C>GCA360626214MCCc.1542G>C (p.Lys514Asn)
c.2112G>C (p.Lys704Asn)
c.1353G>C (p.Lys451Asn)
c.1512G>C (p.Lys504Asn)
5g.113064085C>TCA445979348MCCc.1542G>A (p.Lys514=)
c.2112G>A (p.Lys704=)
c.1353G>A (p.Lys451=)
c.1512G>A (p.Lys504=)
5g.113064086T>ACA360626217MCCc.1541A>T (p.Lys514Met)
c.2111A>T (p.Lys704Met)
c.1352A>T (p.Lys451Met)
c.1511A>T (p.Lys504Met)
 dbSNP gnomAD v2
5g.113064086T>CCA360626215MCCc.1541A>G (p.Lys514Arg)
c.2111A>G (p.Lys704Arg)
c.1352A>G (p.Lys451Arg)
c.1511A>G (p.Lys504Arg)
5g.113064086T>GCA360626216MCCc.1541A>C (p.Lys514Thr)
c.2111A>C (p.Lys704Thr)
c.1352A>C (p.Lys451Thr)
c.1511A>C (p.Lys504Thr)
5g.113064086T=CA1573632538MCCc.1541A= (p.Lys514=)
c.2111A= (p.Lys704=)
c.1352A= (p.Lys451=)
c.1511A= (p.Lys504=)
5g.113064087T>ACA360626218MCCc.1540A>T (p.Lys514Ter)
c.2110A>T (p.Lys704Ter)
c.1351A>T (p.Lys451Ter)
c.1510A>T (p.Lys504Ter)
5g.113064087T>CCA360626219MCCc.1540A>G (p.Lys514Glu)
c.2110A>G (p.Lys704Glu)
c.1351A>G (p.Lys451Glu)
c.1510A>G (p.Lys504Glu)
5g.113064087T>GCA360626220MCCc.1540A>C (p.Lys514Gln)
c.2110A>C (p.Lys704Gln)
c.1351A>C (p.Lys451Gln)
c.1510A>C (p.Lys504Gln)
5g.113064088G>ACA445979350MCCc.1539C>T (p.Ala513=)
c.2109C>T (p.Ala703=)
c.1350C>T (p.Ala450=)
c.1509C>T (p.Ala503=)
5g.113064088G>CCA3370024MCCc.1539C>G (p.Ala513=)
c.2109C>G (p.Ala703=)
c.1350C>G (p.Ala450=)
c.1509C>G (p.Ala503=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.113064088G=CA1573632539MCCc.1539C= (p.Ala513=)
c.2109C= (p.Ala703=)
c.1350C= (p.Ala450=)
c.1509C= (p.Ala503=)
5g.113064088G>TCA445979354MCCc.1539C>A (p.Ala513=)
c.2109C>A (p.Ala703=)
c.1350C>A (p.Ala450=)
c.1509C>A (p.Ala503=)
5g.113064089G>ACA3370025MCCc.1538C>T (p.Ala513Val)
c.2108C>T (p.Ala703Val)
c.1349C>T (p.Ala450Val)
c.1508C>T (p.Ala503Val)
 dbSNP ExAC gnomAD v4
5g.113064089G>CCA360626221MCCc.1538C>G (p.Ala513Gly)
c.2108C>G (p.Ala703Gly)
c.1349C>G (p.Ala450Gly)
c.1508C>G (p.Ala503Gly)
5g.113064089G=CA1573632540MCCc.1538C= (p.Ala513=)
c.2108C= (p.Ala703=)
c.1349C= (p.Ala450=)
c.1508C= (p.Ala503=)
5g.113064089G>TCA360626222MCCc.1538C>A (p.Ala513Asp)
c.2108C>A (p.Ala703Asp)
c.1349C>A (p.Ala450Asp)
c.1508C>A (p.Ala503Asp)
5g.113064090C>ACA360626223MCCc.1537G>T (p.Ala513Ser)
c.2107G>T (p.Ala703Ser)
c.1348G>T (p.Ala450Ser)
c.1507G>T (p.Ala503Ser)
5g.113064090C>GCA360626224MCCc.1537G>C (p.Ala513Pro)
c.2107G>C (p.Ala703Pro)
c.1348G>C (p.Ala450Pro)
c.1507G>C (p.Ala503Pro)
5g.113064090C>TCA360626225MCCc.1537G>A (p.Ala513Thr)
c.2107G>A (p.Ala703Thr)
c.1348G>A (p.Ala450Thr)
c.1507G>A (p.Ala503Thr)
5g.113064091A>CCA445979359MCCc.1536T>G (p.Ala512=)
c.2106T>G (p.Ala702=)
c.1347T>G (p.Ala449=)
c.1506T>G (p.Ala502=)
5g.113064091A>GCA445979360MCCc.1536T>C (p.Ala512=)
c.2106T>C (p.Ala702=)
c.1347T>C (p.Ala449=)
c.1506T>C (p.Ala502=)
5g.113064091A>TCA445979358MCCc.1536T>A (p.Ala512=)
c.2106T>A (p.Ala702=)
c.1347T>A (p.Ala449=)
c.1506T>A (p.Ala502=)
5g.113064092G>ACA360626226MCCc.1535C>T (p.Ala512Val)
c.2105C>T (p.Ala702Val)
c.1346C>T (p.Ala449Val)
c.1505C>T (p.Ala502Val)
5g.113064092G>CCA360626227MCCc.1535C>G (p.Ala512Gly)
c.2105C>G (p.Ala702Gly)
c.1346C>G (p.Ala449Gly)
c.1505C>G (p.Ala502Gly)
5g.113064092G>TCA360626228MCCc.1535C>A (p.Ala512Asp)
c.2105C>A (p.Ala702Asp)
c.1346C>A (p.Ala449Asp)
c.1505C>A (p.Ala502Asp)
5g.113064093C>ACA360626230MCCc.1534G>T (p.Ala512Ser)
c.2104G>T (p.Ala702Ser)
c.1345G>T (p.Ala449Ser)
c.1504G>T (p.Ala502Ser)
5g.113064093C=CA1573632541MCCc.1534G= (p.Ala512=)
c.2104G= (p.Ala702=)
c.1345G= (p.Ala449=)
c.1504G= (p.Ala502=)
5g.113064093C>GCA360626229MCCc.1534G>C (p.Ala512Pro)
c.2104G>C (p.Ala702Pro)
c.1345G>C (p.Ala449Pro)
c.1504G>C (p.Ala502Pro)
5g.113064093C>TCA124994721MCCc.1534G>A (p.Ala512Thr)
c.2104G>A (p.Ala702Thr)
c.1345G>A (p.Ala449Thr)
c.1504G>A (p.Ala502Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.113064094G>ACA3370026MCCc.1533C>T (p.Asn511=)
c.2103C>T (p.Asn701=)
c.1344C>T (p.Asn448=)
c.1503C>T (p.Asn501=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.113064094G>CCA360626231MCCc.1533C>G (p.Asn511Lys)
c.2103C>G (p.Asn701Lys)
c.1344C>G (p.Asn448Lys)
c.1503C>G (p.Asn501Lys)
 dbSNP
5g.113064094G=CA1573632542MCCc.1533C= (p.Asn511=)
c.2103C= (p.Asn701=)
c.1344C= (p.Asn448=)
c.1503C= (p.Asn501=)
5g.113064094G>TCA360626232MCCc.1533C>A (p.Asn511Lys)
c.2103C>A (p.Asn701Lys)
c.1344C>A (p.Asn448Lys)
c.1503C>A (p.Asn501Lys)
 dbSNP
5g.113064095T>ACA360626233MCCc.1532A>T (p.Asn511Ile)
c.2102A>T (p.Asn701Ile)
c.1343A>T (p.Asn448Ile)
c.1502A>T (p.Asn501Ile)
5g.113064095T>CCA360626234MCCc.1532A>G (p.Asn511Ser)
c.2102A>G (p.Asn701Ser)
c.1343A>G (p.Asn448Ser)
c.1502A>G (p.Asn501Ser)
 gnomAD v4
5g.113064095T>GCA360626235MCCc.1532A>C (p.Asn511Thr)
c.2102A>C (p.Asn701Thr)
c.1343A>C (p.Asn448Thr)
c.1502A>C (p.Asn501Thr)
5g.113064096T>ACA360626236MCCc.1531A>T (p.Asn511Tyr)
c.2101A>T (p.Asn701Tyr)
c.1342A>T (p.Asn448Tyr)
c.1501A>T (p.Asn501Tyr)
 gnomAD v4
5g.113064096T>CCA360626237MCCc.1531A>G (p.Asn511Asp)
c.2101A>G (p.Asn701Asp)
c.1342A>G (p.Asn448Asp)
c.1501A>G (p.Asn501Asp)
 gnomAD v4
5g.113064096T>GCA360626238MCCc.1531A>C (p.Asn511His)
c.2101A>C (p.Asn701His)
c.1342A>C (p.Asn448His)
c.1501A>C (p.Asn501His)
5g.113064097C>ACA360626239MCCc.1530G>T (p.Glu510Asp)
c.2100G>T (p.Glu700Asp)
c.1341G>T (p.Glu447Asp)
c.1500G>T (p.Glu500Asp)
5g.113064097C>GCA360626240MCCc.1530G>C (p.Glu510Asp)
c.2100G>C (p.Glu700Asp)
c.1341G>C (p.Glu447Asp)
c.1500G>C (p.Glu500Asp)
5g.113064097C>TCA445979364MCCc.1530G>A (p.Glu510=)
c.2100G>A (p.Glu700=)
c.1341G>A (p.Glu447=)
c.1500G>A (p.Glu500=)
 gnomAD v4
5g.113064098T>ACA360626241MCCc.1529A>T (p.Glu510Val)
c.2099A>T (p.Glu700Val)
c.1340A>T (p.Glu447Val)
c.1499A>T (p.Glu500Val)
5g.113064098T>CCA3370027MCCc.1529A>G (p.Glu510Gly)
c.2099A>G (p.Glu700Gly)
c.1340A>G (p.Glu447Gly)
c.1499A>G (p.Glu500Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.113064098T>GCA360626242MCCc.1529A>C (p.Glu510Ala)
c.2099A>C (p.Glu700Ala)
c.1340A>C (p.Glu447Ala)
c.1499A>C (p.Glu500Ala)
5g.113064098T=CA1573632543MCCc.1529A= (p.Glu510=)
c.2099A= (p.Glu700=)
c.1340A= (p.Glu447=)
c.1499A= (p.Glu500=)
5g.113064099C>ACA360626245MCCc.1528G>T (p.Glu510Ter)
c.2098G>T (p.Glu700Ter)
c.1339G>T (p.Glu447Ter)
c.1498G>T (p.Glu500Ter)
5g.113064099C>GCA360626244MCCc.1528G>C (p.Glu510Gln)
c.2098G>C (p.Glu700Gln)
c.1339G>C (p.Glu447Gln)
c.1498G>C (p.Glu500Gln)
5g.113064099C>TCA360626243MCCc.1528G>A (p.Glu510Lys)
c.2098G>A (p.Glu700Lys)
c.1339G>A (p.Glu447Lys)
c.1498G>A (p.Glu500Lys)
 dbSNP
5g.113064100A>CCA445979366MCCc.1527T>G (p.Ala509=)
c.2097T>G (p.Ala699=)
c.1338T>G (p.Ala446=)
c.1497T>G (p.Ala499=)
5g.113064100A>GCA445979367MCCc.1527T>C (p.Ala509=)
c.2097T>C (p.Ala699=)
c.1338T>C (p.Ala446=)
c.1497T>C (p.Ala499=)
5g.113064100A>TCA445979368MCCc.1527T>A (p.Ala509=)
c.2097T>A (p.Ala699=)
c.1338T>A (p.Ala446=)
c.1497T>A (p.Ala499=)
5g.113064101G>ACA3370028MCCc.1526C>T (p.Ala509Val)
c.2096C>T (p.Ala699Val)
c.1337C>T (p.Ala446Val)
c.1496C>T (p.Ala499Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.113064101G>CCA360626246MCCc.1526C>G (p.Ala509Gly)
c.2096C>G (p.Ala699Gly)
c.1337C>G (p.Ala446Gly)
c.1496C>G (p.Ala499Gly)
5g.113064101G=CA1573632544MCCc.1526C= (p.Ala509=)
c.2096C= (p.Ala699=)
c.1337C= (p.Ala446=)
c.1496C= (p.Ala499=)
5g.113064101G>TCA360626247MCCc.1526C>A (p.Ala509Asp)
c.2096C>A (p.Ala699Asp)
c.1337C>A (p.Ala446Asp)
c.1496C>A (p.Ala499Asp)
5g.113064102C>ACA360626248MCCc.1525G>T (p.Ala509Ser)
c.2095G>T (p.Ala699Ser)
c.1336G>T (p.Ala446Ser)
c.1495G>T (p.Ala499Ser)
5g.113064102C>GCA360626249MCCc.1525G>C (p.Ala509Pro)
c.2095G>C (p.Ala699Pro)
c.1336G>C (p.Ala446Pro)
c.1495G>C (p.Ala499Pro)
 gnomAD v4
5g.113064102C>TCA360626250MCCc.1525G>A (p.Ala509Thr)
c.2095G>A (p.Ala699Thr)
c.1336G>A (p.Ala446Thr)
c.1495G>A (p.Ala499Thr)
 gnomAD v4
5g.113064103T>ACA445979372MCCc.1524A>T (p.Thr508=)
c.2094A>T (p.Thr698=)
c.1335A>T (p.Thr445=)
c.1494A>T (p.Thr498=)
5g.113064103T>CCA445979374MCCc.1524A>G (p.Thr508=)
c.2094A>G (p.Thr698=)
c.1335A>G (p.Thr445=)
c.1494A>G (p.Thr498=)
 dbSNP gnomAD v2
5g.113064103T>GCA445979376MCCc.1524A>C (p.Thr508=)
c.2094A>C (p.Thr698=)
c.1335A>C (p.Thr445=)
c.1494A>C (p.Thr498=)
 gnomAD v4
5g.113064103T=CA1573632545MCCc.1524A= (p.Thr508=)
c.2094A= (p.Thr698=)
c.1335A= (p.Thr445=)
c.1494A= (p.Thr498=)
5g.113064104G>ACA3370029MCCc.1523C>T (p.Thr508Ile)
c.2093C>T (p.Thr698Ile)
c.1334C>T (p.Thr445Ile)
c.1493C>T (p.Thr498Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.113064104G>CCA360626251MCCc.1523C>G (p.Thr508Arg)
c.2093C>G (p.Thr698Arg)
c.1334C>G (p.Thr445Arg)
c.1493C>G (p.Thr498Arg)
5g.113064104G=CA1573632546MCCc.1523C= (p.Thr508=)
c.2093C= (p.Thr698=)
c.1334C= (p.Thr445=)
c.1493C= (p.Thr498=)
5g.113064104G>TCA360626252MCCc.1523C>A (p.Thr508Lys)
c.2093C>A (p.Thr698Lys)
c.1334C>A (p.Thr445Lys)
c.1493C>A (p.Thr498Lys)
5g.113064105T>ACA360626253MCCc.1522A>T (p.Thr508Ser)
c.2092A>T (p.Thr698Ser)
c.1333A>T (p.Thr445Ser)
c.1492A>T (p.Thr498Ser)
5g.113064105T>CCA360626254MCCc.1522A>G (p.Thr508Ala)
c.2092A>G (p.Thr698Ala)
c.1333A>G (p.Thr445Ala)
c.1492A>G (p.Thr498Ala)
5g.113064105T>GCA360626255MCCc.1522A>C (p.Thr508Pro)
c.2092A>C (p.Thr698Pro)
c.1333A>C (p.Thr445Pro)
c.1492A>C (p.Thr498Pro)
5g.113064106C>ACA360626256MCCc.1521G>T (p.Lys507Asn)
c.2091G>T (p.Lys697Asn)
c.1332G>T (p.Lys444Asn)
c.1491G>T (p.Lys497Asn)
 COSMIC COSMIC
5g.113064106C>GCA360626257MCCc.1521G>C (p.Lys507Asn)
c.2091G>C (p.Lys697Asn)
c.1332G>C (p.Lys444Asn)
c.1491G>C (p.Lys497Asn)
5g.113064106C>TCA445979380MCCc.1521G>A (p.Lys507=)
c.2091G>A (p.Lys697=)
c.1332G>A (p.Lys444=)
c.1491G>A (p.Lys497=)
5g.113064107T>ACA360626259MCCc.1520A>T (p.Lys507Met)
c.2090A>T (p.Lys697Met)
c.1331A>T (p.Lys444Met)
c.1490A>T (p.Lys497Met)
5g.113064107T>CCA360626260MCCc.1520A>G (p.Lys507Arg)
c.2090A>G (p.Lys697Arg)
c.1331A>G (p.Lys444Arg)
c.1490A>G (p.Lys497Arg)
 gnomAD v4
5g.113064107T>GCA360626258MCCc.1520A>C (p.Lys507Thr)
c.2090A>C (p.Lys697Thr)
c.1331A>C (p.Lys444Thr)
c.1490A>C (p.Lys497Thr)
5g.113064108T>ACA360626261MCCc.1519A>T (p.Lys507Ter)
c.2089A>T (p.Lys697Ter)
c.1330A>T (p.Lys444Ter)
c.1489A>T (p.Lys497Ter)
5g.113064108T>CCA360626262MCCc.1519A>G (p.Lys507Glu)
c.2089A>G (p.Lys697Glu)
c.1330A>G (p.Lys444Glu)
c.1489A>G (p.Lys497Glu)
 gnomAD v4
5g.113064108T>GCA360626263MCCc.1519A>C (p.Lys507Gln)
c.2089A>C (p.Lys697Gln)
c.1330A>C (p.Lys444Gln)
c.1489A>C (p.Lys497Gln)
5g.113064109C>ACA124994744MCCc.1518G>T (p.Arg506=)
c.2088G>T (p.Arg696=)
c.1329G>T (p.Arg443=)
c.1488G>T (p.Arg496=)
 dbSNP
5g.113064109C=CA1573632547MCCc.1518G= (p.Arg506=)
c.2088G= (p.Arg696=)
c.1329G= (p.Arg443=)
c.1488G= (p.Arg496=)
5g.113064109C>GCA3370030MCCc.1518G>C (p.Arg506=)
c.2088G>C (p.Arg696=)
c.1329G>C (p.Arg443=)
c.1488G>C (p.Arg496=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.113064109C>TCA445979385MCCc.1518G>A (p.Arg506=)
c.2088G>A (p.Arg696=)
c.1329G>A (p.Arg443=)
c.1488G>A (p.Arg496=)
 dbSNP gnomAD v3 gnomAD v4
5g.113064110C>ACA360626264MCCc.1517G>T (p.Arg506Leu)
c.2087G>T (p.Arg696Leu)
c.1328G>T (p.Arg443Leu)
c.1487G>T (p.Arg496Leu)
 gnomAD v4
5g.113064110C=CA1573632548MCCc.1517G= (p.Arg506=)
c.2087G= (p.Arg696=)
c.1328G= (p.Arg443=)
c.1487G= (p.Arg496=)
5g.113064110C>GCA360626265MCCc.1517G>C (p.Arg506Pro)
c.2087G>C (p.Arg696Pro)
c.1328G>C (p.Arg443Pro)
c.1487G>C (p.Arg496Pro)
5g.113064110C>TCA250643MCCc.1517G>A (p.Arg506Gln)
c.2087G>A (p.Arg696Gln)
c.1328G>A (p.Arg443Gln)
c.1487G>A (p.Arg496Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.113064111G>ACA124994758MCCc.1516C>T (p.Arg506Trp)
c.2086C>T (p.Arg696Trp)
c.1327C>T (p.Arg443Trp)
c.1486C>T (p.Arg496Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.113064111G>CCA360626266MCCc.1516C>G (p.Arg506Gly)
c.2086C>G (p.Arg696Gly)
c.1327C>G (p.Arg443Gly)
c.1486C>G (p.Arg496Gly)
 dbSNP gnomAD v2
5g.113064111G=CA1573632549MCCc.1516C= (p.Arg506=)
c.2086C= (p.Arg696=)
c.1327C= (p.Arg443=)
c.1486C= (p.Arg496=)
5g.113064111G>TCA445979386MCCc.1516C>A (p.Arg506=)
c.2086C>A (p.Arg696=)
c.1327C>A (p.Arg443=)
c.1486C>A (p.Arg496=)
5g.113064112G>ACA445979387MCCc.1515C>T (p.Cys505=)
c.2085C>T (p.Cys695=)
c.1326C>T (p.Cys442=)
c.1485C>T (p.Cys495=)
 gnomAD v4
5g.113064112G>CCA360626267MCCc.1515C>G (p.Cys505Trp)
c.2085C>G (p.Cys695Trp)
c.1326C>G (p.Cys442Trp)
c.1485C>G (p.Cys495Trp)
5g.113064112G>TCA360626268MCCc.1515C>A (p.Cys505Ter)
c.2085C>A (p.Cys695Ter)
c.1326C>A (p.Cys442Ter)
c.1485C>A (p.Cys495Ter)
5g.113064113C>ACA360626269MCCc.1514G>T (p.Cys505Phe)
c.2084G>T (p.Cys695Phe)
c.1325G>T (p.Cys442Phe)
c.1484G>T (p.Cys495Phe)
 dbSNP gnomAD v2 gnomAD v4
5g.113064113C=CA1573632550MCCc.1514G= (p.Cys505=)
c.2084G= (p.Cys695=)
c.1325G= (p.Cys442=)
c.1484G= (p.Cys495=)
5g.113064113C>GCA360626270MCCc.1514G>C (p.Cys505Ser)
c.2084G>C (p.Cys695Ser)
c.1325G>C (p.Cys442Ser)
c.1484G>C (p.Cys495Ser)
5g.113064113C>TCA360626271MCCc.1514G>A (p.Cys505Tyr)
c.2084G>A (p.Cys695Tyr)
c.1325G>A (p.Cys442Tyr)
c.1484G>A (p.Cys495Tyr)
 gnomAD v4
5g.113064114A>CCA360626272MCCc.1513T>G (p.Cys505Gly)
c.2083T>G (p.Cys695Gly)
c.1324T>G (p.Cys442Gly)
c.1483T>G (p.Cys495Gly)
5g.113064114A>GCA360626274MCCc.1513T>C (p.Cys505Arg)
c.2083T>C (p.Cys695Arg)
c.1324T>C (p.Cys442Arg)
c.1483T>C (p.Cys495Arg)
5g.113064114A>TCA360626273MCCc.1513T>A (p.Cys505Ser)
c.2083T>A (p.Cys695Ser)
c.1324T>A (p.Cys442Ser)
c.1483T>A (p.Cys495Ser)
5g.113064115G>ACA445979388MCCc.1512C>T (p.Asp504=)
c.2082C>T (p.Asp694=)
c.1323C>T (p.Asp441=)
c.1482C>T (p.Asp494=)
 gnomAD v4
5g.113064115G>CCA360626275MCCc.1512C>G (p.Asp504Glu)
c.2082C>G (p.Asp694Glu)
c.1323C>G (p.Asp441Glu)
c.1482C>G (p.Asp494Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.113064115G=CA1573632551MCCc.1512C= (p.Asp504=)
c.2082C= (p.Asp694=)
c.1323C= (p.Asp441=)
c.1482C= (p.Asp494=)
5g.113064115G>TCA360626276MCCc.1512C>A (p.Asp504Glu)
c.2082C>A (p.Asp694Glu)
c.1323C>A (p.Asp441Glu)
c.1482C>A (p.Asp494Glu)
5g.113064116T>ACA360626277MCCc.1511A>T (p.Asp504Val)
c.2081A>T (p.Asp694Val)
c.1322A>T (p.Asp441Val)
c.1481A>T (p.Asp494Val)
5g.113064116T>CCA360626278MCCc.1511A>G (p.Asp504Gly)
c.2081A>G (p.Asp694Gly)
c.1322A>G (p.Asp441Gly)
c.1481A>G (p.Asp494Gly)
 dbSNP gnomAD v4
5g.113064116T>GCA360626279MCCc.1511A>C (p.Asp504Ala)
c.2081A>C (p.Asp694Ala)
c.1322A>C (p.Asp441Ala)
c.1481A>C (p.Asp494Ala)
5g.113064116T=CA1573632552MCCc.1511A= (p.Asp504=)
c.2081A= (p.Asp694=)
c.1322A= (p.Asp441=)
c.1481A= (p.Asp494=)
5g.113064117C>ACA360626280MCCc.1510G>T (p.Asp504Tyr)
c.2080G>T (p.Asp694Tyr)
c.1321G>T (p.Asp441Tyr)
c.1480G>T (p.Asp494Tyr)
5g.113064117C>GCA360626281MCCc.1510G>C (p.Asp504His)
c.2080G>C (p.Asp694His)
c.1321G>C (p.Asp441His)
c.1480G>C (p.Asp494His)
5g.113064117C>TCA360626282MCCc.1510G>A (p.Asp504Asn)
c.2080G>A (p.Asp694Asn)
c.1321G>A (p.Asp441Asn)
c.1480G>A (p.Asp494Asn)
5g.113064118A>CCA360626283MCCc.1509T>G (p.His503Gln)
c.2079T>G (p.His693Gln)
c.1320T>G (p.His440Gln)
c.1479T>G (p.His493Gln)
5g.113064118A>GCA445979389MCCc.1509T>C (p.His503=)
c.2079T>C (p.His693=)
c.1320T>C (p.His440=)
c.1479T>C (p.His493=)
5g.113064118A>TCA360626284MCCc.1509T>A (p.His503Gln)
c.2079T>A (p.His693Gln)
c.1320T>A (p.His440Gln)
c.1479T>A (p.His493Gln)
5g.113064119T>ACA360626287MCCc.1508A>T (p.His503Leu)
c.2078A>T (p.His693Leu)
c.1319A>T (p.His440Leu)
c.1478A>T (p.His493Leu)
 gnomAD v4
5g.113064119T>CCA360626285MCCc.1508A>G (p.His503Arg)
c.2078A>G (p.His693Arg)
c.1319A>G (p.His440Arg)
c.1478A>G (p.His493Arg)
 gnomAD v4
5g.113064119T>GCA360626286MCCc.1508A>C (p.His503Pro)
c.2078A>C (p.His693Pro)
c.1319A>C (p.His440Pro)
c.1478A>C (p.His493Pro)
 gnomAD v4
5g.113064120G>ACA3370031MCCc.1507C>T (p.His503Tyr)
c.2077C>T (p.His693Tyr)
c.1318C>T (p.His440Tyr)
c.1477C>T (p.His493Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.113064120G>CCA360626289MCCc.1507C>G (p.His503Asp)
c.2077C>G (p.His693Asp)
c.1318C>G (p.His440Asp)
c.1477C>G (p.His493Asp)
5g.113064120G=CA1573632553MCCc.1507C= (p.His503=)
c.2077C= (p.His693=)
c.1318C= (p.His440=)
c.1477C= (p.His493=)
5g.113064120G>TCA360626288MCCc.1507C>A (p.His503Asn)
c.2077C>A (p.His693Asn)
c.1318C>A (p.His440Asn)
c.1477C>A (p.His493Asn)
5g.113064121A>CCA445979390MCCc.1506T>G (p.Ala502=)
c.2076T>G (p.Ala692=)
c.1317T>G (p.Ala439=)
c.1476T>G (p.Ala492=)
5g.113064121A>GCA445979392MCCc.1506T>C (p.Ala502=)
c.2076T>C (p.Ala692=)
c.1317T>C (p.Ala439=)
c.1476T>C (p.Ala492=)
5g.113064121A>TCA445979393MCCc.1506T>A (p.Ala502=)
c.2076T>A (p.Ala692=)
c.1317T>A (p.Ala439=)
c.1476T>A (p.Ala492=)
5g.113064122G>ACA3370032MCCc.1505C>T (p.Ala502Val)
c.2075C>T (p.Ala692Val)
c.1316C>T (p.Ala439Val)
c.1475C>T (p.Ala492Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.113064122G>CCA360626290MCCc.1505C>G (p.Ala502Gly)
c.2075C>G (p.Ala692Gly)
c.1316C>G (p.Ala439Gly)
c.1475C>G (p.Ala492Gly)
 dbSNP
5g.113064122G=CA1573632554MCCc.1505C= (p.Ala502=)
c.2075C= (p.Ala692=)
c.1316C= (p.Ala439=)
c.1475C= (p.Ala492=)
5g.113064122G>TCA360626291MCCc.1505C>A (p.Ala502Asp)
c.2075C>A (p.Ala692Asp)
c.1316C>A (p.Ala439Asp)
c.1475C>A (p.Ala492Asp)
5g.113064123C>ACA360626292MCCc.1504G>T (p.Ala502Ser)
c.2074G>T (p.Ala692Ser)
c.1315G>T (p.Ala439Ser)
c.1474G>T (p.Ala492Ser)
5g.113064123C>GCA360626293MCCc.1504G>C (p.Ala502Pro)
c.2074G>C (p.Ala692Pro)
c.1315G>C (p.Ala439Pro)
c.1474G>C (p.Ala492Pro)
5g.113064123C>TCA360626294MCCc.1504G>A (p.Ala502Thr)
c.2074G>A (p.Ala692Thr)
c.1315G>A (p.Ala439Thr)
c.1474G>A (p.Ala492Thr)
5g.113064124T>ACA124994762MCCc.1503A>T (p.Arg501=)
c.2073A>T (p.Arg691=)
c.1314A>T (p.Arg438=)
c.1473A>T (p.Arg491=)
 dbSNP gnomAD v2 gnomAD v4
5g.113064124T>CCA3370033MCCc.1503A>G (p.Arg501=)
c.2073A>G (p.Arg691=)
c.1314A>G (p.Arg438=)
c.1473A>G (p.Arg491=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.113064124T>GCA445979398MCCc.1503A>C (p.Arg501=)
c.2073A>C (p.Arg691=)
c.1314A>C (p.Arg438=)
c.1473A>C (p.Arg491=)
5g.113064124T=CA1573632555MCCc.1503A= (p.Arg501=)
c.2073A= (p.Arg691=)
c.1314A= (p.Arg438=)
c.1473A= (p.Arg491=)
5g.113064125C>ACA3370034MCCc.1502G>T (p.Arg501Leu)
c.2072G>T (p.Arg691Leu)
c.1313G>T (p.Arg438Leu)
c.1472G>T (p.Arg491Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.113064125C=CA1573632556MCCc.1502G= (p.Arg501=)
c.2072G= (p.Arg691=)
c.1313G= (p.Arg438=)
c.1472G= (p.Arg491=)
5g.113064125C>GCA360626295MCCc.1502G>C (p.Arg501Pro)
c.2072G>C (p.Arg691Pro)
c.1313G>C (p.Arg438Pro)
c.1472G>C (p.Arg491Pro)
5g.113064125C>TCA3370035MCCc.1502G>A (p.Arg501Gln)
c.2072G>A (p.Arg691Gln)
c.1313G>A (p.Arg438Gln)
c.1472G>A (p.Arg491Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.113064126G>ACA3370036MCCc.1501C>T (p.Arg501Ter)
c.2071C>T (p.Arg691Ter)
c.1312C>T (p.Arg438Ter)
c.1471C>T (p.Arg491Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.113064126G>CCA360626296MCCc.1501C>G (p.Arg501Gly)
c.2071C>G (p.Arg691Gly)
c.1312C>G (p.Arg438Gly)
c.1471C>G (p.Arg491Gly)
 dbSNP gnomAD v4
5g.113064126G=CA1573632557MCCc.1501C= (p.Arg501=)
c.2071C= (p.Arg691=)
c.1312C= (p.Arg438=)
c.1471C= (p.Arg491=)
5g.113064126G>TCA445979402MCCc.1501C>A (p.Arg501=)
c.2071C>A (p.Arg691=)
c.1312C>A (p.Arg438=)
c.1471C>A (p.Arg491=)
 gnomAD v4
5g.113064127C>ACA360626297MCCc.1500G>T (p.Lys500Asn)
c.2070G>T (p.Lys690Asn)
c.1311G>T (p.Lys437Asn)
c.1470G>T (p.Lys490Asn)
5g.113064127C=CA1573632558MCCc.1500G= (p.Lys500=)
c.2070G= (p.Lys690=)
c.1311G= (p.Lys437=)
c.1470G= (p.Lys490=)
5g.113064127C>GCA360626298MCCc.1500G>C (p.Lys500Asn)
c.2070G>C (p.Lys690Asn)
c.1311G>C (p.Lys437Asn)
c.1470G>C (p.Lys490Asn)
5g.113064127C>TCA124994788MCCc.1500G>A (p.Lys500=)
c.2070G>A (p.Lys690=)
c.1311G>A (p.Lys437=)
c.1470G>A (p.Lys490=)
 dbSNP
5g.113064128T>ACA3370038MCCc.1499A>T (p.Lys500Met)
c.2069A>T (p.Lys690Met)
c.1310A>T (p.Lys437Met)
c.1469A>T (p.Lys490Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.113064128T>CCA3370037MCCc.1499A>G (p.Lys500Arg)
c.2069A>G (p.Lys690Arg)
c.1310A>G (p.Lys437Arg)
c.1469A>G (p.Lys490Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.113064128T>GCA360626299MCCc.1499A>C (p.Lys500Thr)
c.2069A>C (p.Lys690Thr)
c.1310A>C (p.Lys437Thr)
c.1469A>C (p.Lys490Thr)
 gnomAD v4
5g.113064128T=CA1573632559MCCc.1499A= (p.Lys500=)
c.2069A= (p.Lys690=)
c.1310A= (p.Lys437=)
c.1469A= (p.Lys490=)
5g.113064129T>ACA360626300MCCc.1498A>T (p.Lys500Ter)
c.2068A>T (p.Lys690Ter)
c.1309A>T (p.Lys437Ter)
c.1468A>T (p.Lys490Ter)
5g.113064129T>CCA3370039MCCc.1498A>G (p.Lys500Glu)
c.2068A>G (p.Lys690Glu)
c.1309A>G (p.Lys437Glu)
c.1468A>G (p.Lys490Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.113064129T>GCA360626301MCCc.1498A>C (p.Lys500Gln)
c.2068A>C (p.Lys690Gln)
c.1309A>C (p.Lys437Gln)
c.1468A>C (p.Lys490Gln)
5g.113064129T=CA1573632560MCCc.1498A= (p.Lys500=)
c.2068A= (p.Lys690=)
c.1309A= (p.Lys437=)
c.1468A= (p.Lys490=)
5g.113064130G>ACA3370040MCCc.1497C>T (p.Leu499=)
c.2067C>T (p.Leu689=)
c.1308C>T (p.Leu436=)
c.1467C>T (p.Leu489=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.113064130G>CCA445979404MCCc.1497C>G (p.Leu499=)
c.2067C>G (p.Leu689=)
c.1308C>G (p.Leu436=)
c.1467C>G (p.Leu489=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.113064130G=CA1573632561MCCc.1497C= (p.Leu499=)
c.2067C= (p.Leu689=)
c.1308C= (p.Leu436=)
c.1467C= (p.Leu489=)
5g.113064130G>TCA445979405MCCc.1497C>A (p.Leu499=)
c.2067C>A (p.Leu689=)
c.1308C>A (p.Leu436=)
c.1467C>A (p.Leu489=)
 dbSNP gnomAD v3 gnomAD v4
5g.113064131A>CCA360626302MCCc.1496T>G (p.Leu499Arg)
c.2066T>G (p.Leu689Arg)
c.1307T>G (p.Leu436Arg)
c.1466T>G (p.Leu489Arg)
5g.113064131A>GCA360626303MCCc.1496T>C (p.Leu499Pro)
c.2066T>C (p.Leu689Pro)
c.1307T>C (p.Leu436Pro)
c.1466T>C (p.Leu489Pro)
5g.113064131A>TCA360626304MCCc.1496T>A (p.Leu499His)
c.2066T>A (p.Leu689His)
c.1307T>A (p.Leu436His)
c.1466T>A (p.Leu489His)
5g.113064132G>ACA124994800MCCc.1495C>T (p.Leu499Phe)
c.2065C>T (p.Leu689Phe)
c.1306C>T (p.Leu436Phe)
c.1465C>T (p.Leu489Phe)
 dbSNP gnomAD v4
5g.113064132G>CCA360626305MCCc.1495C>G (p.Leu499Val)
c.2065C>G (p.Leu689Val)
c.1306C>G (p.Leu436Val)
c.1465C>G (p.Leu489Val)
5g.113064132G=CA1573632562MCCc.1495C= (p.Leu499=)
c.2065C= (p.Leu689=)
c.1306C= (p.Leu436=)
c.1465C= (p.Leu489=)
5g.113064132G>TCA360626306MCCc.1495C>A (p.Leu499Ile)
c.2065C>A (p.Leu689Ile)
c.1306C>A (p.Leu436Ile)
c.1465C>A (p.Leu489Ile)
5g.113064133C>ACA360626307MCCc.1494G>T (p.Met498Ile)
c.2064G>T (p.Met688Ile)
c.1305G>T (p.Met435Ile)
c.1464G>T (p.Met488Ile)
5g.113064133C>GCA360626309MCCc.1494G>C (p.Met498Ile)
c.2064G>C (p.Met688Ile)
c.1305G>C (p.Met435Ile)
c.1464G>C (p.Met488Ile)
5g.113064133C>TCA360626308MCCc.1494G>A (p.Met498Ile)
c.2064G>A (p.Met688Ile)
c.1305G>A (p.Met435Ile)
c.1464G>A (p.Met488Ile)
 gnomAD v4
5g.113064134A>CCA360626310MCCc.1493T>G (p.Met498Arg)
c.2063T>G (p.Met688Arg)
c.1304T>G (p.Met435Arg)
c.1463T>G (p.Met488Arg)
5g.113064134A>GCA360626311MCCc.1493T>C (p.Met498Thr)
c.2063T>C (p.Met688Thr)
c.1304T>C (p.Met435Thr)
c.1463T>C (p.Met488Thr)
5g.113064134A>TCA360626312MCCc.1493T>A (p.Met498Lys)
c.2063T>A (p.Met688Lys)
c.1304T>A (p.Met435Lys)
c.1463T>A (p.Met488Lys)
5g.113064135T>ACA360626313MCCc.1492A>T (p.Met498Leu)
c.2062A>T (p.Met688Leu)
c.1303A>T (p.Met435Leu)
c.1462A>T (p.Met488Leu)
 gnomAD v4
5g.113064135T>CCA3370041MCCc.1492A>G (p.Met498Val)
c.2062A>G (p.Met688Val)
c.1303A>G (p.Met435Val)
c.1462A>G (p.Met488Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.113064135T>GCA360626314MCCc.1492A>C (p.Met498Leu)
c.2062A>C (p.Met688Leu)
c.1303A>C (p.Met435Leu)
c.1462A>C (p.Met488Leu)
5g.113064135T=CA1573632563MCCc.1492A= (p.Met498=)
c.2062A= (p.Met688=)
c.1303A= (p.Met435=)
c.1462A= (p.Met488=)
5g.113064136C>ACA360626315MCCc.1491G>T (p.Gln497His)
c.2061G>T (p.Gln687His)
c.1302G>T (p.Gln434His)
c.1461G>T (p.Gln487His)
 gnomAD v4
5g.113064136C=CA1573632564MCCc.1491G= (p.Gln497=)
c.2061G= (p.Gln687=)
c.1302G= (p.Gln434=)
c.1461G= (p.Gln487=)
5g.113064136C>GCA3370042MCCc.1491G>C (p.Gln497His)
c.2061G>C (p.Gln687His)
c.1302G>C (p.Gln434His)
c.1461G>C (p.Gln487His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.113064136C>TCA445979417MCCc.1491G>A (p.Gln497=)
c.2061G>A (p.Gln687=)
c.1302G>A (p.Gln434=)
c.1461G>A (p.Gln487=)
 gnomAD v4
5g.113064137T>ACA360626316MCCc.1490A>T (p.Gln497Leu)
c.2060A>T (p.Gln687Leu)
c.1301A>T (p.Gln434Leu)
c.1460A>T (p.Gln487Leu)
5g.113064137T>CCA360626317MCCc.1490A>G (p.Gln497Arg)
c.2060A>G (p.Gln687Arg)
c.1301A>G (p.Gln434Arg)
c.1460A>G (p.Gln487Arg)
5g.113064137T>GCA360626318MCCc.1490A>C (p.Gln497Pro)
c.2060A>C (p.Gln687Pro)
c.1301A>C (p.Gln434Pro)
c.1460A>C (p.Gln487Pro)
5g.113064138G>ACA360626319MCCc.1489C>T (p.Gln497Ter)
c.2059C>T (p.Gln687Ter)
c.1300C>T (p.Gln434Ter)
c.1459C>T (p.Gln487Ter)
5g.113064138G>CCA360626320MCCc.1489C>G (p.Gln497Glu)
c.2059C>G (p.Gln687Glu)
c.1300C>G (p.Gln434Glu)
c.1459C>G (p.Gln487Glu)
5g.113064138G>TCA360626321MCCc.1489C>A (p.Gln497Lys)
c.2059C>A (p.Gln687Lys)
c.1300C>A (p.Gln434Lys)
c.1459C>A (p.Gln487Lys)
5g.113064139A>CCA445979420MCCc.1488T>G (p.Thr496=)
c.2058T>G (p.Thr686=)
c.1299T>G (p.Thr433=)
c.1458T>G (p.Thr486=)
 gnomAD v4
5g.113064139A>GCA445979421MCCc.1488T>C (p.Thr496=)
c.2058T>C (p.Thr686=)
c.1299T>C (p.Thr433=)
c.1458T>C (p.Thr486=)
5g.113064139A>TCA445979422MCCc.1488T>A (p.Thr496=)
c.2058T>A (p.Thr686=)
c.1299T>A (p.Thr433=)
c.1458T>A (p.Thr486=)
5g.113064140G>ACA3370043MCCc.1487C>T (p.Thr496Ile)
c.2057C>T (p.Thr686Ile)
c.1298C>T (p.Thr433Ile)
c.1457C>T (p.Thr486Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.113064140G>CCA360626323MCCc.1487C>G (p.Thr496Ser)
c.2057C>G (p.Thr686Ser)
c.1298C>G (p.Thr433Ser)
c.1457C>G (p.Thr486Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.113064140G=CA1573632565MCCc.1487C= (p.Thr496=)
c.2057C= (p.Thr686=)
c.1298C= (p.Thr433=)
c.1457C= (p.Thr486=)
5g.113064140G>TCA360626322MCCc.1487C>A (p.Thr496Asn)
c.2057C>A (p.Thr686Asn)
c.1298C>A (p.Thr433Asn)
c.1457C>A (p.Thr486Asn)
 COSMIC COSMIC
5g.113064141T>ACA3370044MCCc.1486A>T (p.Thr496Ser)
c.2056A>T (p.Thr686Ser)
c.1297A>T (p.Thr433Ser)
c.1456A>T (p.Thr486Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.113064141T>CCA360626324MCCc.1486A>G (p.Thr496Ala)
c.2056A>G (p.Thr686Ala)
c.1297A>G (p.Thr433Ala)
c.1456A>G (p.Thr486Ala)
5g.113064141T>GCA360626325MCCc.1486A>C (p.Thr496Pro)
c.2056A>C (p.Thr686Pro)
c.1297A>C (p.Thr433Pro)
c.1456A>C (p.Thr486Pro)
5g.113064141T=CA1573632566MCCc.1486A= (p.Thr496=)
c.2056A= (p.Thr686=)
c.1297A= (p.Thr433=)
c.1456A= (p.Thr486=)
5g.113064142G>ACA445979426MCCc.1485C>T (p.Ile495=)
c.2055C>T (p.Ile685=)
c.1296C>T (p.Ile432=)
c.1455C>T (p.Ile485=)
5g.113064142G>CCA360626326MCCc.1485C>G (p.Ile495Met)
c.2055C>G (p.Ile685Met)
c.1296C>G (p.Ile432Met)
c.1455C>G (p.Ile485Met)
5g.113064142G>TCA445979427MCCc.1485C>A (p.Ile495=)
c.2055C>A (p.Ile685=)
c.1296C>A (p.Ile432=)
c.1455C>A (p.Ile485=)
5g.113064143A>CCA360626327MCCc.1484T>G (p.Ile495Ser)
c.2054T>G (p.Ile685Ser)
c.1295T>G (p.Ile432Ser)
c.1454T>G (p.Ile485Ser)
5g.113064143A>GCA360626328MCCc.1484T>C (p.Ile495Thr)
c.2054T>C (p.Ile685Thr)
c.1295T>C (p.Ile432Thr)
c.1454T>C (p.Ile485Thr)
 gnomAD v4
5g.113064143A>TCA360626329MCCc.1484T>A (p.Ile495Asn)
c.2054T>A (p.Ile685Asn)
c.1295T>A (p.Ile432Asn)
c.1454T>A (p.Ile485Asn)
5g.113064143_113064144delCA2674882402MCCc.1483_1484del (p.Ile495HisfsTer9)
c.2053_2054del (p.Ile685HisfsTer9)
c.1294_1295del (p.Ile432HisfsTer9)
c.1453_1454del (p.Ile485HisfsTer9)
 gnomAD v4
5g.113064144T>ACA360626330MCCc.1483A>T (p.Ile495Phe)
c.2053A>T (p.Ile685Phe)
c.1294A>T (p.Ile432Phe)
c.1453A>T (p.Ile485Phe)
5g.113064144T>CCA360626331MCCc.1483A>G (p.Ile495Val)
c.2053A>G (p.Ile685Val)
c.1294A>G (p.Ile432Val)
c.1453A>G (p.Ile485Val)
 gnomAD v4
5g.113064144T>GCA360626332MCCc.1483A>C (p.Ile495Leu)
c.2053A>C (p.Ile685Leu)
c.1294A>C (p.Ile432Leu)
c.1453A>C (p.Ile485Leu)
5g.113064145G>ACA3370046MCCc.1482C>T (p.Asn494=)
c.2052C>T (p.Asn684=)
c.1293C>T (p.Asn431=)
c.1452C>T (p.Asn484=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.113064145G>CCA3370045MCCc.1482C>G (p.Asn494Lys)
c.2052C>G (p.Asn684Lys)
c.1293C>G (p.Asn431Lys)
c.1452C>G (p.Asn484Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.113064145G=CA1573632567MCCc.1482C= (p.Asn494=)
c.2052C= (p.Asn684=)
c.1293C= (p.Asn431=)
c.1452C= (p.Asn484=)
5g.113064145G>TCA360626333MCCc.1482C>A (p.Asn494Lys)
c.2052C>A (p.Asn684Lys)
c.1293C>A (p.Asn431Lys)
c.1452C>A (p.Asn484Lys)
 dbSNP
5g.113064146T>ACA360626334MCCc.1481A>T (p.Asn494Ile)
c.2051A>T (p.Asn684Ile)
c.1292A>T (p.Asn431Ile)
c.1451A>T (p.Asn484Ile)
5g.113064146T>CCA360626336MCCc.1481A>G (p.Asn494Ser)
c.2051A>G (p.Asn684Ser)
c.1292A>G (p.Asn431Ser)
c.1451A>G (p.Asn484Ser)
5g.113064146T>GCA360626335MCCc.1481A>C (p.Asn494Thr)
c.2051A>C (p.Asn684Thr)
c.1292A>C (p.Asn431Thr)
c.1451A>C (p.Asn484Thr)
5g.113064147T>ACA360626337MCCc.1480A>T (p.Asn494Tyr)
c.2050A>T (p.Asn684Tyr)
c.1291A>T (p.Asn431Tyr)
c.1450A>T (p.Asn484Tyr)
5g.113064147T>CCA360626339MCCc.1480A>G (p.Asn494Asp)
c.2050A>G (p.Asn684Asp)
c.1291A>G (p.Asn431Asp)
c.1450A>G (p.Asn484Asp)
 gnomAD v4
5g.113064147T>GCA360626338MCCc.1480A>C (p.Asn494His)
c.2050A>C (p.Asn684His)
c.1291A>C (p.Asn431His)
c.1450A>C (p.Asn484His)
5g.113064148T>ACA360626340MCCc.1479A>T (p.Glu493Asp)
c.2049A>T (p.Glu683Asp)
c.1290A>T (p.Glu430Asp)
c.1449A>T (p.Glu483Asp)
5g.113064148T>CCA445979434MCCc.1479A>G (p.Glu493=)
c.2049A>G (p.Glu683=)
c.1290A>G (p.Glu430=)
c.1449A>G (p.Glu483=)
5g.113064148T>GCA360626341MCCc.1479A>C (p.Glu493Asp)
c.2049A>C (p.Glu683Asp)
c.1290A>C (p.Glu430Asp)
c.1449A>C (p.Glu483Asp)
5g.113064149T>ACA360626342MCCc.1478A>T (p.Glu493Val)
c.2048A>T (p.Glu683Val)
c.1289A>T (p.Glu430Val)
c.1448A>T (p.Glu483Val)
5g.113064149T>CCA360626343MCCc.1478A>G (p.Glu493Gly)
c.2048A>G (p.Glu683Gly)
c.1289A>G (p.Glu430Gly)
c.1448A>G (p.Glu483Gly)
5g.113064149T>GCA3370047MCCc.1478A>C (p.Glu493Ala)
c.2048A>C (p.Glu683Ala)
c.1289A>C (p.Glu430Ala)
c.1448A>C (p.Glu483Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.113064149T=CA1573632568MCCc.1478A= (p.Glu493=)
c.2048A= (p.Glu683=)
c.1289A= (p.Glu430=)
c.1448A= (p.Glu483=)
5g.113064150C>ACA360626344MCCc.1477G>T (p.Glu493Ter)
c.2047G>T (p.Glu683Ter)
c.1288G>T (p.Glu430Ter)
c.1447G>T (p.Glu483Ter)
5g.113064150C>GCA360626345MCCc.1477G>C (p.Glu493Gln)
c.2047G>C (p.Glu683Gln)
c.1288G>C (p.Glu430Gln)
c.1447G>C (p.Glu483Gln)
5g.113064150C>TCA360626346MCCc.1477G>A (p.Glu493Lys)
c.2047G>A (p.Glu683Lys)
c.1288G>A (p.Glu430Lys)
c.1447G>A (p.Glu483Lys)
 gnomAD v4
5g.113064150_113064151insCCCA2674882403MCCc.1477_1478insGG (p.Glu493GlyfsTer27)
c.2047_2048insGG (p.Glu683GlyfsTer27)
c.1288_1289insGG (p.Glu430GlyfsTer27)
c.1447_1448insGG (p.Glu483GlyfsTer27)
 gnomAD v4
5g.113064151A=CA1573632569MCCc.1476T= (p.Asp492=)
c.2046T= (p.Asp682=)
c.1287T= (p.Asp429=)
c.1446T= (p.Asp482=)
5g.113064151A>CCA360626347MCCc.1476T>G (p.Asp492Glu)
c.2046T>G (p.Asp682Glu)
c.1287T>G (p.Asp429Glu)
c.1446T>G (p.Asp482Glu)
5g.113064151A>GCA445979436MCCc.1476T>C (p.Asp492=)
c.2046T>C (p.Asp682=)
c.1287T>C (p.Asp429=)
c.1446T>C (p.Asp482=)
 dbSNP gnomAD v3 gnomAD v4
5g.113064151A>TCA360626348MCCc.1476T>A (p.Asp492Glu)
c.2046T>A (p.Asp682Glu)
c.1287T>A (p.Asp429Glu)
c.1446T>A (p.Asp482Glu)
5g.113064152T>ACA360626349MCCc.1475A>T (p.Asp492Val)
c.2045A>T (p.Asp682Val)
c.1286A>T (p.Asp429Val)
c.1445A>T (p.Asp482Val)
5g.113064152T>CCA3370048MCCc.1475A>G (p.Asp492Gly)
c.2045A>G (p.Asp682Gly)
c.1286A>G (p.Asp429Gly)
c.1445A>G (p.Asp482Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.113064152T>GCA360626350MCCc.1475A>C (p.Asp492Ala)
c.2045A>C (p.Asp682Ala)
c.1286A>C (p.Asp429Ala)
c.1445A>C (p.Asp482Ala)
5g.113064152T=CA1573632570MCCc.1475A= (p.Asp492=)
c.2045A= (p.Asp682=)
c.1286A= (p.Asp429=)
c.1445A= (p.Asp482=)
5g.113064153C>ACA3370050MCCc.1474G>T (p.Asp492Tyr)
c.2044G>T (p.Asp682Tyr)
c.1285G>T (p.Asp429Tyr)
c.1444G>T (p.Asp482Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.113064153C=CA1573632571MCCc.1474G= (p.Asp492=)
c.2044G= (p.Asp682=)
c.1285G= (p.Asp429=)
c.1444G= (p.Asp482=)
5g.113064153C>GCA360626351MCCc.1474G>C (p.Asp492His)
c.2044G>C (p.Asp682His)
c.1285G>C (p.Asp429His)
c.1444G>C (p.Asp482His)
 gnomAD v4
5g.113064153C>TCA3370049MCCc.1474G>A (p.Asp492Asn)
c.2044G>A (p.Asp682Asn)
c.1285G>A (p.Asp429Asn)
c.1444G>A (p.Asp482Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.113064157dupCA2674882404MCCc.1474dup (p.Asp492GlyfsTer2)
c.2044dup (p.Asp682GlyfsTer2)
c.1285dup (p.Asp429GlyfsTer2)
c.1444dup (p.Asp482GlyfsTer2)
 gnomAD v4
5g.113064154C>ACA124994819MCCc.1473G>T (p.Gly491=)
c.2043G>T (p.Gly681=)
c.1284G>T (p.Gly428=)
c.1443G>T (p.Gly481=)
 dbSNP
5g.113064154C=CA1573632572MCCc.1473G= (p.Gly491=)
c.2043G= (p.Gly681=)
c.1284G= (p.Gly428=)
c.1443G= (p.Gly481=)
5g.113064154C>GCA445979439MCCc.1473G>C (p.Gly491=)
c.2043G>C (p.Gly681=)
c.1284G>C (p.Gly428=)
c.1443G>C (p.Gly481=)
5g.113064154C>TCA445979438MCCc.1473G>A (p.Gly491=)
c.2043G>A (p.Gly681=)
c.1284G>A (p.Gly428=)
c.1443G>A (p.Gly481=)
 gnomAD v4
5g.113064155_113064176dupCA2674882405MCCc.1460-8_1473dup
c.2030-8_2043dup
c.1271-8_1284dup
c.1430-8_1443dup
 gnomAD v4
5g.113064155C>ACA360626352MCCc.1472G>T (p.Gly491Val)
c.2042G>T (p.Gly681Val)
c.1283G>T (p.Gly428Val)
c.1442G>T (p.Gly481Val)
5g.113064155C>GCA360626353MCCc.1472G>C (p.Gly491Ala)
c.2042G>C (p.Gly681Ala)
c.1283G>C (p.Gly428Ala)
c.1442G>C (p.Gly481Ala)
5g.113064155C>TCA360626354MCCc.1472G>A (p.Gly491Glu)
c.2042G>A (p.Gly681Glu)
c.1283G>A (p.Gly428Glu)
c.1442G>A (p.Gly481Glu)
5g.113064156C>ACA360626355MCCc.1471G>T (p.Gly491Trp)
c.2041G>T (p.Gly681Trp)
c.1282G>T (p.Gly428Trp)
c.1441G>T (p.Gly481Trp)
5g.113064156C=CA1573632573MCCc.1471G= (p.Gly491=)
c.2041G= (p.Gly681=)
c.1282G= (p.Gly428=)
c.1441G= (p.Gly481=)
5g.113064156C>GCA360626356MCCc.1471G>C (p.Gly491Arg)
c.2041G>C (p.Gly681Arg)
c.1282G>C (p.Gly428Arg)
c.1441G>C (p.Gly481Arg)
 dbSNP
5g.113064156C>TCA360626357MCCc.1471G>A (p.Gly491Arg)
c.2041G>A (p.Gly681Arg)
c.1282G>A (p.Gly428Arg)
c.1441G>A (p.Gly481Arg)
 dbSNP gnomAD v4
5g.113064157C>ACA445979443MCCc.1470G>T (p.Ser490=)
c.2040G>T (p.Ser680=)
c.1281G>T (p.Ser427=)
c.1440G>T (p.Ser480=)
5g.113064157C=CA1573632574MCCc.1470G= (p.Ser490=)
c.2040G= (p.Ser680=)
c.1281G= (p.Ser427=)
c.1440G= (p.Ser480=)
5g.113064157C>GCA124994820MCCc.1470G>C (p.Ser490=)
c.2040G>C (p.Ser680=)
c.1281G>C (p.Ser427=)
c.1440G>C (p.Ser480=)
 dbSNP
5g.113064157C>TCA124994821MCCc.1470G>A (p.Ser490=)
c.2040G>A (p.Ser680=)
c.1281G>A (p.Ser427=)
c.1440G>A (p.Ser480=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.113064158G>ACA3370051MCCc.1469C>T (p.Ser490Leu)
c.2039C>T (p.Ser680Leu)
c.1280C>T (p.Ser427Leu)
c.1439C>T (p.Ser480Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.113064158G>CCA360626358MCCc.1469C>G (p.Ser490Trp)
c.2039C>G (p.Ser680Trp)
c.1280C>G (p.Ser427Trp)
c.1439C>G (p.Ser480Trp)
5g.113064158G=CA1573632575MCCc.1469C= (p.Ser490=)
c.2039C= (p.Ser680=)
c.1280C= (p.Ser427=)
c.1439C= (p.Ser480=)
5g.113064158G>TCA360626359MCCc.1469C>A (p.Ser490Ter)
c.2039C>A (p.Ser680Ter)
c.1280C>A (p.Ser427Ter)
c.1439C>A (p.Ser480Ter)
 dbSNP
5g.113064159A>CCA360626360MCCc.1468T>G (p.Ser490Ala)
c.2038T>G (p.Ser680Ala)
c.1279T>G (p.Ser427Ala)
c.1438T>G (p.Ser480Ala)
5g.113064159A>GCA360626361MCCc.1468T>C (p.Ser490Pro)
c.2038T>C (p.Ser680Pro)
c.1279T>C (p.Ser427Pro)
c.1438T>C (p.Ser480Pro)
5g.113064159A>TCA360626362MCCc.1468T>A (p.Ser490Thr)
c.2038T>A (p.Ser680Thr)
c.1279T>A (p.Ser427Thr)
c.1438T>A (p.Ser480Thr)
5g.113064160C>ACA360626363MCCc.1467G>T (p.Gln489His)
c.2037G>T (p.Gln679His)
c.1278G>T (p.Gln426His)
c.1437G>T (p.Gln479His)
5g.113064160C>GCA360626364MCCc.1467G>C (p.Gln489His)
c.2037G>C (p.Gln679His)
c.1278G>C (p.Gln426His)
c.1437G>C (p.Gln479His)
 gnomAD v4
5g.113064160C>TCA445979448MCCc.1467G>A (p.Gln489=)
c.2037G>A (p.Gln679=)
c.1278G>A (p.Gln426=)
c.1437G>A (p.Gln479=)
5g.113064161T>ACA360626365MCCc.1466A>T (p.Gln489Leu)
c.2036A>T (p.Gln679Leu)
c.1277A>T (p.Gln426Leu)
c.1436A>T (p.Gln479Leu)
 gnomAD v4
5g.113064161T>CCA360626366MCCc.1466A>G (p.Gln489Arg)
c.2036A>G (p.Gln679Arg)
c.1277A>G (p.Gln426Arg)
c.1436A>G (p.Gln479Arg)
 gnomAD v4
5g.113064161T>GCA360626367MCCc.1466A>C (p.Gln489Pro)
c.2036A>C (p.Gln679Pro)
c.1277A>C (p.Gln426Pro)
c.1436A>C (p.Gln479Pro)
5g.113064162G>ACA360626368MCCc.1465C>T (p.Gln489Ter)
c.2035C>T (p.Gln679Ter)
c.1276C>T (p.Gln426Ter)
c.1435C>T (p.Gln479Ter)
5g.113064162G>CCA360626369MCCc.1465C>G (p.Gln489Glu)
c.2035C>G (p.Gln679Glu)
c.1276C>G (p.Gln426Glu)
c.1435C>G (p.Gln479Glu)
5g.113064162G=CA1573632576MCCc.1465C= (p.Gln489=)
c.2035C= (p.Gln679=)
c.1276C= (p.Gln426=)
c.1435C= (p.Gln479=)
5g.113064162G>TCA360626370MCCc.1465C>A (p.Gln489Lys)
c.2035C>A (p.Gln679Lys)
c.1276C>A (p.Gln426Lys)
c.1435C>A (p.Gln479Lys)
 dbSNP gnomAD v2 gnomAD v4
5g.113064163G>ACA445979453MCCc.1464C>T (p.Asp488=)
c.2034C>T (p.Asp678=)
c.1275C>T (p.Asp425=)
c.1434C>T (p.Asp478=)
 gnomAD v4
5g.113064163G>CCA360626371MCCc.1464C>G (p.Asp488Glu)
c.2034C>G (p.Asp678Glu)
c.1275C>G (p.Asp425Glu)
c.1434C>G (p.Asp478Glu)
5g.113064163G>TCA360626372MCCc.1464C>A (p.Asp488Glu)
c.2034C>A (p.Asp678Glu)
c.1275C>A (p.Asp425Glu)
c.1434C>A (p.Asp478Glu)
 gnomAD v4
5g.113064164T>ACA360626373MCCc.1463A>T (p.Asp488Val)
c.2033A>T (p.Asp678Val)
c.1274A>T (p.Asp425Val)
c.1433A>T (p.Asp478Val)
5g.113064164T>CCA360626374MCCc.1463A>G (p.Asp488Gly)
c.2033A>G (p.Asp678Gly)
c.1274A>G (p.Asp425Gly)
c.1433A>G (p.Asp478Gly)
 COSMIC COSMIC
5g.113064164T>GCA360626375MCCc.1463A>C (p.Asp488Ala)
c.2033A>C (p.Asp678Ala)
c.1274A>C (p.Asp425Ala)
c.1433A>C (p.Asp478Ala)
5g.113064165C>ACA360626378MCCc.1462G>T (p.Asp488Tyr)
c.2032G>T (p.Asp678Tyr)
c.1273G>T (p.Asp425Tyr)
c.1432G>T (p.Asp478Tyr)
 gnomAD v4
5g.113064165C>GCA360626377MCCc.1462G>C (p.Asp488His)
c.2032G>C (p.Asp678His)
c.1273G>C (p.Asp425His)
c.1432G>C (p.Asp478His)
5g.113064165C>TCA360626376MCCc.1462G>A (p.Asp488Asn)
c.2032G>A (p.Asp678Asn)
c.1273G>A (p.Asp425Asn)
c.1432G>A (p.Asp478Asn)
5g.113064166T>ACA445979457MCCc.1461A>T (p.Gly487=)
c.2031A>T (p.Gly677=)
c.1272A>T (p.Gly424=)
c.1431A>T (p.Gly477=)
5g.113064166T>CCA3370052MCCc.1461A>G (p.Gly487=)
c.2031A>G (p.Gly677=)
c.1272A>G (p.Gly424=)
c.1431A>G (p.Gly477=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.113064166T>GCA445979458MCCc.1461A>C (p.Gly487=)
c.2031A>C (p.Gly677=)
c.1272A>C (p.Gly424=)
c.1431A>C (p.Gly477=)
5g.113064166T=CA1573632577MCCc.1461A= (p.Gly487=)
c.2031A= (p.Gly677=)
c.1272A= (p.Gly424=)
c.1431A= (p.Gly477=)
5g.113064167C>ACA360626379MCCc.1460G>T (p.Gly487Val)
c.2030G>T (p.Gly677Val)
c.1271G>T (p.Gly424Val)
c.1430G>T (p.Gly477Val)
5g.113064167C=CA1573632578MCCc.1460G= (p.Gly487=)
c.2030G= (p.Gly677=)
c.1271G= (p.Gly424=)
c.1430G= (p.Gly477=)
5g.113064167C>GCA360626380MCCc.1460G>C (p.Gly487Ala)
c.2030G>C (p.Gly677Ala)
c.1271G>C (p.Gly424Ala)
c.1430G>C (p.Gly477Ala)
 dbSNP gnomAD v2 gnomAD v4
5g.113064167C>TCA124994826MCCc.1460G>A (p.Gly487Glu)
c.2030G>A (p.Gly677Glu)
c.1271G>A (p.Gly424Glu)
c.1430G>A (p.Gly477Glu)
 dbSNP
5g.113064168delCA2578380797MCCc.1460del
c.2030del
c.1271del
c.1430del
5g.113064168C>ACA360626381MCCc.1460-1G>T (n.1460-1G>T)
c.2030-1G>T (n.2030-1G>T)
c.1271-1G>T (n.1271-1G>T)
c.1430-1G>T (n.1430-1G>T)
5g.113064168C>GCA360626382MCCc.1460-1G>C (n.1460-1G>C)
c.2030-1G>C (n.2030-1G>C)
c.1271-1G>C (n.1271-1G>C)
c.1430-1G>C (n.1430-1G>C)
 gnomAD v4
5g.113064168C>TCA360626383MCCc.1460-1G>A (n.1460-1G>A)
c.2030-1G>A (n.2030-1G>A)
c.1271-1G>A (n.1271-1G>A)
c.1430-1G>A (n.1430-1G>A)
5g.113064169_113064176dupCA2674882406MCCc.1460-8_1460-1dup (n.1460-8_1460-1dup)
c.2030-8_2030-1dup (n.2030-8_2030-1dup)
c.1271-8_1271-1dup (n.1271-8_1271-1dup)
c.1430-8_1430-1dup (n.1430-8_1430-1dup)
 gnomAD v4
5g.113064169T>ACA360626384MCCc.1460-2A>T (n.1460-2A>T)
c.2030-2A>T (n.2030-2A>T)
c.1271-2A>T (n.1271-2A>T)
c.1430-2A>T (n.1430-2A>T)
 COSMIC COSMIC
5g.113064169T>CCA360626385MCCc.1460-2A>G (n.1460-2A>G)
c.2030-2A>G (n.2030-2A>G)
c.1271-2A>G (n.1271-2A>G)
c.1430-2A>G (n.1430-2A>G)
 COSMIC COSMIC
5g.113064169T>GCA360626386MCCc.1460-2A>C (n.1460-2A>C)
c.2030-2A>C (n.2030-2A>C)
c.1271-2A>C (n.1271-2A>C)
c.1430-2A>C (n.1430-2A>C)
5g.113064170A=CA1573632579MCCc.1460-3T= (n.1460-3T=)
c.2030-3T= (n.2030-3T=)
c.1271-3T= (n.1271-3T=)
c.1430-3T= (n.1430-3T=)
5g.113064170A>GCA802095473MCCc.1460-3T>C (n.1460-3T>C)
c.2030-3T>C (n.2030-3T>C)
c.1271-3T>C (n.1271-3T>C)
c.1430-3T>C (n.1430-3T>C)
 dbSNP gnomAD v3 gnomAD v4
5g.113064171T>ACA562217979MCCc.1460-4A>T (n.1460-4A>T)
c.2030-4A>T (n.2030-4A>T)
c.1271-4A>T (n.1271-4A>T)
c.1430-4A>T (n.1430-4A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.113064171T>CCA3370053MCCc.1460-4A>G (n.1460-4A>G)
c.2030-4A>G (n.2030-4A>G)
c.1271-4A>G (n.1271-4A>G)
c.1430-4A>G (n.1430-4A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.113064171T=CA1573632580MCCc.1460-4A= (n.1460-4A=)
c.2030-4A= (n.2030-4A=)
c.1271-4A= (n.1271-4A=)
c.1430-4A= (n.1430-4A=)
5g.113064172G>ACA562217982MCCc.1460-5C>T (n.1460-5C>T)
c.2030-5C>T (n.2030-5C>T)
c.1271-5C>T (n.1271-5C>T)
c.1430-5C>T (n.1430-5C>T)
 dbSNP gnomAD v2 gnomAD v4
5g.113064172G=CA1573632581MCCc.1460-5C= (n.1460-5C=)
c.2030-5C= (n.2030-5C=)
c.1271-5C= (n.1271-5C=)
c.1430-5C= (n.1430-5C=)

Number of alleles fetched