Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.114402847G>ACA5205566WHRNc.975C>T (p.His325=)
c.2631C>T (p.His877=)
c.1604C>T
n.2512C>T
c.1482C>T (p.His494=)
c.1578C>T (p.His526=)
c.2628C>T (p.His876=)
c.1968C>T (p.His656=)
c.2664C>T (p.His888=)
c.2661C>T (p.His887=)
c.2538C>T (p.His846=)
c.2421C>T (p.His807=)
c.1341C>T (p.His447=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114402847G>CCA374618916WHRNc.975C>G (p.His325Gln)
c.2631C>G (p.His877Gln)
c.1604C>G
n.2512C>G
c.1482C>G (p.His494Gln)
c.1578C>G (p.His526Gln)
c.2628C>G (p.His876Gln)
c.1968C>G (p.His656Gln)
c.2664C>G (p.His888Gln)
c.2661C>G (p.His887Gln)
c.2538C>G (p.His846Gln)
c.2421C>G (p.His807Gln)
c.1341C>G (p.His447Gln)
9g.114402847G=CA1873825360WHRNc.975C= (p.His325=)
c.2631C= (p.His877=)
c.1604C=
n.2512C=
c.1482C= (p.His494=)
c.1578C= (p.His526=)
c.2628C= (p.His876=)
c.1968C= (p.His656=)
c.2664C= (p.His888=)
c.2661C= (p.His887=)
c.2538C= (p.His846=)
c.2421C= (p.His807=)
c.1341C= (p.His447=)
9g.114402847G>TCA374618917WHRNc.975C>A (p.His325Gln)
c.2631C>A (p.His877Gln)
c.1604C>A
n.2512C>A
c.1482C>A (p.His494Gln)
c.1578C>A (p.His526Gln)
c.2628C>A (p.His876Gln)
c.1968C>A (p.His656Gln)
c.2664C>A (p.His888Gln)
c.2661C>A (p.His887Gln)
c.2538C>A (p.His846Gln)
c.2421C>A (p.His807Gln)
c.1341C>A (p.His447Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.114402848T>ACA374618919WHRNc.974A>T (p.His325Leu)
c.2630A>T (p.His877Leu)
c.1603A>T
n.2511A>T
c.1481A>T (p.His494Leu)
c.1577A>T (p.His526Leu)
c.2627A>T (p.His876Leu)
c.1967A>T (p.His656Leu)
c.2663A>T (p.His888Leu)
c.2660A>T (p.His887Leu)
c.2537A>T (p.His846Leu)
c.2420A>T (p.His807Leu)
c.1340A>T (p.His447Leu)
9g.114402848T>CCA5205567WHRNc.974A>G (p.His325Arg)
c.2630A>G (p.His877Arg)
c.1603A>G
n.2511A>G
c.1481A>G (p.His494Arg)
c.1577A>G (p.His526Arg)
c.2627A>G (p.His876Arg)
c.1967A>G (p.His656Arg)
c.2663A>G (p.His888Arg)
c.2660A>G (p.His887Arg)
c.2537A>G (p.His846Arg)
c.2420A>G (p.His807Arg)
c.1340A>G (p.His447Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.114402848T>GCA374618918WHRNc.974A>C (p.His325Pro)
c.2630A>C (p.His877Pro)
c.1603A>C
n.2511A>C
c.1481A>C (p.His494Pro)
c.1577A>C (p.His526Pro)
c.2627A>C (p.His876Pro)
c.1967A>C (p.His656Pro)
c.2663A>C (p.His888Pro)
c.2660A>C (p.His887Pro)
c.2537A>C (p.His846Pro)
c.2420A>C (p.His807Pro)
c.1340A>C (p.His447Pro)
9g.114402848T=CA1873825361WHRNc.974A= (p.His325=)
c.2630A= (p.His877=)
c.1603A=
n.2511A=
c.1481A= (p.His494=)
c.1577A= (p.His526=)
c.2627A= (p.His876=)
c.1967A= (p.His656=)
c.2663A= (p.His888=)
c.2660A= (p.His887=)
c.2537A= (p.His846=)
c.2420A= (p.His807=)
c.1340A= (p.His447=)
9g.114402849G>ACA374618920WHRNc.973C>T (p.His325Tyr)
c.2629C>T (p.His877Tyr)
c.1602C>T
n.2510C>T
c.1480C>T (p.His494Tyr)
c.1576C>T (p.His526Tyr)
c.2626C>T (p.His876Tyr)
c.1966C>T (p.His656Tyr)
c.2662C>T (p.His888Tyr)
c.2659C>T (p.His887Tyr)
c.2536C>T (p.His846Tyr)
c.2419C>T (p.His807Tyr)
c.1339C>T (p.His447Tyr)
 dbSNP gnomAD v3 gnomAD v4
9g.114402849G>CCA374618921WHRNc.973C>G (p.His325Asp)
c.2629C>G (p.His877Asp)
c.1602C>G
n.2510C>G
c.1480C>G (p.His494Asp)
c.1576C>G (p.His526Asp)
c.2626C>G (p.His876Asp)
c.1966C>G (p.His656Asp)
c.2662C>G (p.His888Asp)
c.2659C>G (p.His887Asp)
c.2536C>G (p.His846Asp)
c.2419C>G (p.His807Asp)
c.1339C>G (p.His447Asp)
9g.114402849G=CA1873825362WHRNc.973C= (p.His325=)
c.2629C= (p.His877=)
c.1602C=
n.2510C=
c.1480C= (p.His494=)
c.1576C= (p.His526=)
c.2626C= (p.His876=)
c.1966C= (p.His656=)
c.2662C= (p.His888=)
c.2659C= (p.His887=)
c.2536C= (p.His846=)
c.2419C= (p.His807=)
c.1339C= (p.His447=)
9g.114402849G>TCA374618922WHRNc.973C>A (p.His325Asn)
c.2629C>A (p.His877Asn)
c.1602C>A
n.2510C>A
c.1480C>A (p.His494Asn)
c.1576C>A (p.His526Asn)
c.2626C>A (p.His876Asn)
c.1966C>A (p.His656Asn)
c.2662C>A (p.His888Asn)
c.2659C>A (p.His887Asn)
c.2536C>A (p.His846Asn)
c.2419C>A (p.His807Asn)
c.1339C>A (p.His447Asn)
 dbSNP gnomAD v2 gnomAD v4
9g.114402850C>ACA374618923WHRNc.972G>T (p.Glu324Asp)
c.2628G>T (p.Glu876Asp)
c.1601G>T
n.2509G>T
c.1479G>T (p.Glu493Asp)
c.1575G>T (p.Glu525Asp)
c.2625G>T (p.Glu875Asp)
c.1965G>T (p.Glu655Asp)
c.2661G>T (p.Glu887Asp)
c.2658G>T (p.Glu886Asp)
c.2535G>T (p.Glu845Asp)
c.2418G>T (p.Glu806Asp)
c.1338G>T (p.Glu446Asp)
9g.114402850C>GCA374618924WHRNc.972G>C (p.Glu324Asp)
c.2628G>C (p.Glu876Asp)
c.1601G>C
n.2509G>C
c.1479G>C (p.Glu493Asp)
c.1575G>C (p.Glu525Asp)
c.2625G>C (p.Glu875Asp)
c.1965G>C (p.Glu655Asp)
c.2661G>C (p.Glu887Asp)
c.2658G>C (p.Glu886Asp)
c.2535G>C (p.Glu845Asp)
c.2418G>C (p.Glu806Asp)
c.1338G>C (p.Glu446Asp)
9g.114402850C>TCA466910849WHRNc.972G>A (p.Glu324=)
c.2628G>A (p.Glu876=)
c.1601G>A
n.2509G>A
c.1479G>A (p.Glu493=)
c.1575G>A (p.Glu525=)
c.2625G>A (p.Glu875=)
c.1965G>A (p.Glu655=)
c.2661G>A (p.Glu887=)
c.2658G>A (p.Glu886=)
c.2535G>A (p.Glu845=)
c.2418G>A (p.Glu806=)
c.1338G>A (p.Glu446=)
9g.114402851T>ACA374618925WHRNc.971A>T (p.Glu324Val)
c.2627A>T (p.Glu876Val)
c.1600A>T
n.2508A>T
c.1478A>T (p.Glu493Val)
c.1574A>T (p.Glu525Val)
c.2624A>T (p.Glu875Val)
c.1964A>T (p.Glu655Val)
c.2660A>T (p.Glu887Val)
c.2657A>T (p.Glu886Val)
c.2534A>T (p.Glu845Val)
c.2417A>T (p.Glu806Val)
c.1337A>T (p.Glu446Val)
9g.114402851T>CCA374618926WHRNc.971A>G (p.Glu324Gly)
c.2627A>G (p.Glu876Gly)
c.1600A>G
n.2508A>G
c.1478A>G (p.Glu493Gly)
c.1574A>G (p.Glu525Gly)
c.2624A>G (p.Glu875Gly)
c.1964A>G (p.Glu655Gly)
c.2660A>G (p.Glu887Gly)
c.2657A>G (p.Glu886Gly)
c.2534A>G (p.Glu845Gly)
c.2417A>G (p.Glu806Gly)
c.1337A>G (p.Glu446Gly)
9g.114402851T>GCA374618927WHRNc.971A>C (p.Glu324Ala)
c.2627A>C (p.Glu876Ala)
c.1600A>C
n.2508A>C
c.1478A>C (p.Glu493Ala)
c.1574A>C (p.Glu525Ala)
c.2624A>C (p.Glu875Ala)
c.1964A>C (p.Glu655Ala)
c.2660A>C (p.Glu887Ala)
c.2657A>C (p.Glu886Ala)
c.2534A>C (p.Glu845Ala)
c.2417A>C (p.Glu806Ala)
c.1337A>C (p.Glu446Ala)
9g.114402852C>ACA374618928WHRNc.970G>T (p.Glu324Ter)
c.2626G>T (p.Glu876Ter)
c.1599G>T
n.2507G>T
c.1477G>T (p.Glu493Ter)
c.1573G>T (p.Glu525Ter)
c.2623G>T (p.Glu875Ter)
c.1963G>T (p.Glu655Ter)
c.2659G>T (p.Glu887Ter)
c.2656G>T (p.Glu886Ter)
c.2533G>T (p.Glu845Ter)
c.2416G>T (p.Glu806Ter)
c.1336G>T (p.Glu446Ter)
9g.114402852C>GCA374618929WHRNc.970G>C (p.Glu324Gln)
c.2626G>C (p.Glu876Gln)
c.1599G>C
n.2507G>C
c.1477G>C (p.Glu493Gln)
c.1573G>C (p.Glu525Gln)
c.2623G>C (p.Glu875Gln)
c.1963G>C (p.Glu655Gln)
c.2659G>C (p.Glu887Gln)
c.2656G>C (p.Glu886Gln)
c.2533G>C (p.Glu845Gln)
c.2416G>C (p.Glu806Gln)
c.1336G>C (p.Glu446Gln)
9g.114402852C>TCA374618930WHRNc.970G>A (p.Glu324Lys)
c.2626G>A (p.Glu876Lys)
c.1599G>A
n.2507G>A
c.1477G>A (p.Glu493Lys)
c.1573G>A (p.Glu525Lys)
c.2623G>A (p.Glu875Lys)
c.1963G>A (p.Glu655Lys)
c.2659G>A (p.Glu887Lys)
c.2656G>A (p.Glu886Lys)
c.2533G>A (p.Glu845Lys)
c.2416G>A (p.Glu806Lys)
c.1336G>A (p.Glu446Lys)
9g.114402853C>ACA374618931WHRNc.969G>T (p.Lys323Asn)
c.2625G>T (p.Lys875Asn)
c.1598G>T
n.2506G>T
c.1476G>T (p.Lys492Asn)
c.1572G>T (p.Lys524Asn)
c.2622G>T (p.Lys874Asn)
c.1962G>T (p.Lys654Asn)
c.2658G>T (p.Lys886Asn)
c.2655G>T (p.Lys885Asn)
c.2532G>T (p.Lys844Asn)
c.2415G>T (p.Lys805Asn)
c.1335G>T (p.Lys445Asn)
9g.114402853C>GCA374618932WHRNc.969G>C (p.Lys323Asn)
c.2625G>C (p.Lys875Asn)
c.1598G>C
n.2506G>C
c.1476G>C (p.Lys492Asn)
c.1572G>C (p.Lys524Asn)
c.2622G>C (p.Lys874Asn)
c.1962G>C (p.Lys654Asn)
c.2658G>C (p.Lys886Asn)
c.2655G>C (p.Lys885Asn)
c.2532G>C (p.Lys844Asn)
c.2415G>C (p.Lys805Asn)
c.1335G>C (p.Lys445Asn)
9g.114402853C>TCA466910852WHRNc.969G>A (p.Lys323=)
c.2625G>A (p.Lys875=)
c.1598G>A
n.2506G>A
c.1476G>A (p.Lys492=)
c.1572G>A (p.Lys524=)
c.2622G>A (p.Lys874=)
c.1962G>A (p.Lys654=)
c.2658G>A (p.Lys886=)
c.2655G>A (p.Lys885=)
c.2532G>A (p.Lys844=)
c.2415G>A (p.Lys805=)
c.1335G>A (p.Lys445=)
9g.114402854T>ACA374618933WHRNc.968A>T (p.Lys323Met)
c.2624A>T (p.Lys875Met)
c.1597A>T
n.2505A>T
c.1475A>T (p.Lys492Met)
c.1571A>T (p.Lys524Met)
c.2621A>T (p.Lys874Met)
c.1961A>T (p.Lys654Met)
c.2657A>T (p.Lys886Met)
c.2654A>T (p.Lys885Met)
c.2531A>T (p.Lys844Met)
c.2414A>T (p.Lys805Met)
c.1334A>T (p.Lys445Met)
9g.114402854T>CCA374618934WHRNc.968A>G (p.Lys323Arg)
c.2624A>G (p.Lys875Arg)
c.1597A>G
n.2505A>G
c.1475A>G (p.Lys492Arg)
c.1571A>G (p.Lys524Arg)
c.2621A>G (p.Lys874Arg)
c.1961A>G (p.Lys654Arg)
c.2657A>G (p.Lys886Arg)
c.2654A>G (p.Lys885Arg)
c.2531A>G (p.Lys844Arg)
c.2414A>G (p.Lys805Arg)
c.1334A>G (p.Lys445Arg)
9g.114402854T>GCA374618935WHRNc.968A>C (p.Lys323Thr)
c.2624A>C (p.Lys875Thr)
c.1597A>C
n.2505A>C
c.1475A>C (p.Lys492Thr)
c.1571A>C (p.Lys524Thr)
c.2621A>C (p.Lys874Thr)
c.1961A>C (p.Lys654Thr)
c.2657A>C (p.Lys886Thr)
c.2654A>C (p.Lys885Thr)
c.2531A>C (p.Lys844Thr)
c.2414A>C (p.Lys805Thr)
c.1334A>C (p.Lys445Thr)
9g.114402855T>ACA374618936WHRNc.967A>T (p.Lys323Ter)
c.2623A>T (p.Lys875Ter)
c.1596A>T
n.2504A>T
c.1474A>T (p.Lys492Ter)
c.1570A>T (p.Lys524Ter)
c.2620A>T (p.Lys874Ter)
c.1960A>T (p.Lys654Ter)
c.2656A>T (p.Lys886Ter)
c.2653A>T (p.Lys885Ter)
c.2530A>T (p.Lys844Ter)
c.2413A>T (p.Lys805Ter)
c.1333A>T (p.Lys445Ter)
9g.114402855T>CCA374618937WHRNc.967A>G (p.Lys323Glu)
c.2623A>G (p.Lys875Glu)
c.1596A>G
n.2504A>G
c.1474A>G (p.Lys492Glu)
c.1570A>G (p.Lys524Glu)
c.2620A>G (p.Lys874Glu)
c.1960A>G (p.Lys654Glu)
c.2656A>G (p.Lys886Glu)
c.2653A>G (p.Lys885Glu)
c.2530A>G (p.Lys844Glu)
c.2413A>G (p.Lys805Glu)
c.1333A>G (p.Lys445Glu)
 gnomAD v4
9g.114402855T>GCA374618938WHRNc.967A>C (p.Lys323Gln)
c.2623A>C (p.Lys875Gln)
c.1596A>C
n.2504A>C
c.1474A>C (p.Lys492Gln)
c.1570A>C (p.Lys524Gln)
c.2620A>C (p.Lys874Gln)
c.1960A>C (p.Lys654Gln)
c.2656A>C (p.Lys886Gln)
c.2653A>C (p.Lys885Gln)
c.2530A>C (p.Lys844Gln)
c.2413A>C (p.Lys805Gln)
c.1333A>C (p.Lys445Gln)
9g.114402856G>ACA466910856WHRNc.966C>T (p.Gly322=)
c.2622C>T (p.Gly874=)
c.1595C>T
n.2503C>T
c.1473C>T (p.Gly491=)
c.1569C>T (p.Gly523=)
c.2619C>T (p.Gly873=)
c.1959C>T (p.Gly653=)
c.2655C>T (p.Gly885=)
c.2652C>T (p.Gly884=)
c.2529C>T (p.Gly843=)
c.2412C>T (p.Gly804=)
c.1332C>T (p.Gly444=)
9g.114402856G>CCA466910859WHRNc.966C>G (p.Gly322=)
c.2622C>G (p.Gly874=)
c.1595C>G
n.2503C>G
c.1473C>G (p.Gly491=)
c.1569C>G (p.Gly523=)
c.2619C>G (p.Gly873=)
c.1959C>G (p.Gly653=)
c.2655C>G (p.Gly885=)
c.2652C>G (p.Gly884=)
c.2529C>G (p.Gly843=)
c.2412C>G (p.Gly804=)
c.1332C>G (p.Gly444=)
9g.114402856G>TCA466910858WHRNc.966C>A (p.Gly322=)
c.2622C>A (p.Gly874=)
c.1595C>A
n.2503C>A
c.1473C>A (p.Gly491=)
c.1569C>A (p.Gly523=)
c.2619C>A (p.Gly873=)
c.1959C>A (p.Gly653=)
c.2655C>A (p.Gly885=)
c.2652C>A (p.Gly884=)
c.2529C>A (p.Gly843=)
c.2412C>A (p.Gly804=)
c.1332C>A (p.Gly444=)
9g.114402857C>ACA374618939WHRNc.965G>T (p.Gly322Val)
c.2621G>T (p.Gly874Val)
c.1594G>T
n.2502G>T
c.1472G>T (p.Gly491Val)
c.1568G>T (p.Gly523Val)
c.2618G>T (p.Gly873Val)
c.1958G>T (p.Gly653Val)
c.2654G>T (p.Gly885Val)
c.2651G>T (p.Gly884Val)
c.2528G>T (p.Gly843Val)
c.2411G>T (p.Gly804Val)
c.1331G>T (p.Gly444Val)
9g.114402857C=CA1873825363WHRNc.965G= (p.Gly322=)
c.2621G= (p.Gly874=)
c.1594G=
n.2502G=
c.1472G= (p.Gly491=)
c.1568G= (p.Gly523=)
c.2618G= (p.Gly873=)
c.1958G= (p.Gly653=)
c.2654G= (p.Gly885=)
c.2651G= (p.Gly884=)
c.2528G= (p.Gly843=)
c.2411G= (p.Gly804=)
c.1331G= (p.Gly444=)
9g.114402857C>GCA5205568WHRNc.965G>C (p.Gly322Ala)
c.2621G>C (p.Gly874Ala)
c.1594G>C
n.2502G>C
c.1472G>C (p.Gly491Ala)
c.1568G>C (p.Gly523Ala)
c.2618G>C (p.Gly873Ala)
c.1958G>C (p.Gly653Ala)
c.2654G>C (p.Gly885Ala)
c.2651G>C (p.Gly884Ala)
c.2528G>C (p.Gly843Ala)
c.2411G>C (p.Gly804Ala)
c.1331G>C (p.Gly444Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114402857C>TCA5205569WHRNc.965G>A (p.Gly322Asp)
c.2621G>A (p.Gly874Asp)
c.1594G>A
n.2502G>A
c.1472G>A (p.Gly491Asp)
c.1568G>A (p.Gly523Asp)
c.2618G>A (p.Gly873Asp)
c.1958G>A (p.Gly653Asp)
c.2654G>A (p.Gly885Asp)
c.2651G>A (p.Gly884Asp)
c.2528G>A (p.Gly843Asp)
c.2411G>A (p.Gly804Asp)
c.1331G>A (p.Gly444Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.114402858C>ACA198648781WHRNc.964G>T (p.Gly322Cys)
c.2620G>T (p.Gly874Cys)
c.1593G>T
n.2501G>T
c.1471G>T (p.Gly491Cys)
c.1567G>T (p.Gly523Cys)
c.2617G>T (p.Gly873Cys)
c.1957G>T (p.Gly653Cys)
c.2653G>T (p.Gly885Cys)
c.2650G>T (p.Gly884Cys)
c.2527G>T (p.Gly843Cys)
c.2410G>T (p.Gly804Cys)
c.1330G>T (p.Gly444Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.114402858C=CA1873825364WHRNc.964G= (p.Gly322=)
c.2620G= (p.Gly874=)
c.1593G=
n.2501G=
c.1471G= (p.Gly491=)
c.1567G= (p.Gly523=)
c.2617G= (p.Gly873=)
c.1957G= (p.Gly653=)
c.2653G= (p.Gly885=)
c.2650G= (p.Gly884=)
c.2527G= (p.Gly843=)
c.2410G= (p.Gly804=)
c.1330G= (p.Gly444=)
9g.114402858C>GCA374618940WHRNc.964G>C (p.Gly322Arg)
c.2620G>C (p.Gly874Arg)
c.1593G>C
n.2501G>C
c.1471G>C (p.Gly491Arg)
c.1567G>C (p.Gly523Arg)
c.2617G>C (p.Gly873Arg)
c.1957G>C (p.Gly653Arg)
c.2653G>C (p.Gly885Arg)
c.2650G>C (p.Gly884Arg)
c.2527G>C (p.Gly843Arg)
c.2410G>C (p.Gly804Arg)
c.1330G>C (p.Gly444Arg)
9g.114402858C>TCA198648782WHRNc.964G>A (p.Gly322Ser)
c.2620G>A (p.Gly874Ser)
c.1593G>A
n.2501G>A
c.1471G>A (p.Gly491Ser)
c.1567G>A (p.Gly523Ser)
c.2617G>A (p.Gly873Ser)
c.1957G>A (p.Gly653Ser)
c.2653G>A (p.Gly885Ser)
c.2650G>A (p.Gly884Ser)
c.2527G>A (p.Gly843Ser)
c.2410G>A (p.Gly804Ser)
c.1330G>A (p.Gly444Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.114402859C>ACA466910861WHRNc.963G>T (p.Arg321=)
c.2619G>T (p.Arg873=)
c.1592G>T
n.2500G>T
c.1470G>T (p.Arg490=)
c.1566G>T (p.Arg522=)
c.2616G>T (p.Arg872=)
c.1956G>T (p.Arg652=)
c.2652G>T (p.Arg884=)
c.2649G>T (p.Arg883=)
c.2526G>T (p.Arg842=)
c.2409G>T (p.Arg803=)
c.1329G>T (p.Arg443=)
9g.114402859C>GCA466910862WHRNc.963G>C (p.Arg321=)
c.2619G>C (p.Arg873=)
c.1592G>C
n.2500G>C
c.1470G>C (p.Arg490=)
c.1566G>C (p.Arg522=)
c.2616G>C (p.Arg872=)
c.1956G>C (p.Arg652=)
c.2652G>C (p.Arg884=)
c.2649G>C (p.Arg883=)
c.2526G>C (p.Arg842=)
c.2409G>C (p.Arg803=)
c.1329G>C (p.Arg443=)
9g.114402859C>TCA466910863WHRNc.963G>A (p.Arg321=)
c.2619G>A (p.Arg873=)
c.1592G>A
n.2500G>A
c.1470G>A (p.Arg490=)
c.1566G>A (p.Arg522=)
c.2616G>A (p.Arg872=)
c.1956G>A (p.Arg652=)
c.2652G>A (p.Arg884=)
c.2649G>A (p.Arg883=)
c.2526G>A (p.Arg842=)
c.2409G>A (p.Arg803=)
c.1329G>A (p.Arg443=)
9g.114402860C>ACA374618943WHRNc.962G>T (p.Arg321Leu)
c.2618G>T (p.Arg873Leu)
c.1591G>T
n.2499G>T
c.1469G>T (p.Arg490Leu)
c.1565G>T (p.Arg522Leu)
c.2615G>T (p.Arg872Leu)
c.1955G>T (p.Arg652Leu)
c.2651G>T (p.Arg884Leu)
c.2648G>T (p.Arg883Leu)
c.2525G>T (p.Arg842Leu)
c.2408G>T (p.Arg803Leu)
c.1328G>T (p.Arg443Leu)
 dbSNP gnomAD v4
9g.114402860C=CA1873825365WHRNc.962G= (p.Arg321=)
c.2618G= (p.Arg873=)
c.1591G=
n.2499G=
c.1469G= (p.Arg490=)
c.1565G= (p.Arg522=)
c.2615G= (p.Arg872=)
c.1955G= (p.Arg652=)
c.2651G= (p.Arg884=)
c.2648G= (p.Arg883=)
c.2525G= (p.Arg842=)
c.2408G= (p.Arg803=)
c.1328G= (p.Arg443=)
9g.114402860C>GCA374618941WHRNc.962G>C (p.Arg321Pro)
c.2618G>C (p.Arg873Pro)
c.1591G>C
n.2499G>C
c.1469G>C (p.Arg490Pro)
c.1565G>C (p.Arg522Pro)
c.2615G>C (p.Arg872Pro)
c.1955G>C (p.Arg652Pro)
c.2651G>C (p.Arg884Pro)
c.2648G>C (p.Arg883Pro)
c.2525G>C (p.Arg842Pro)
c.2408G>C (p.Arg803Pro)
c.1328G>C (p.Arg443Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.114402860C>TCA374618942WHRNc.962G>A (p.Arg321Gln)
c.2618G>A (p.Arg873Gln)
c.1591G>A
n.2499G>A
c.1469G>A (p.Arg490Gln)
c.1565G>A (p.Arg522Gln)
c.2615G>A (p.Arg872Gln)
c.1955G>A (p.Arg652Gln)
c.2651G>A (p.Arg884Gln)
c.2648G>A (p.Arg883Gln)
c.2525G>A (p.Arg842Gln)
c.2408G>A (p.Arg803Gln)
c.1328G>A (p.Arg443Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.114402861G>ACA198648784WHRNc.961C>T (p.Arg321Trp)
c.2617C>T (p.Arg873Trp)
c.1590C>T
n.2498C>T
c.1468C>T (p.Arg490Trp)
c.1564C>T (p.Arg522Trp)
c.2614C>T (p.Arg872Trp)
c.1954C>T (p.Arg652Trp)
c.2650C>T (p.Arg884Trp)
c.2647C>T (p.Arg883Trp)
c.2524C>T (p.Arg842Trp)
c.2407C>T (p.Arg803Trp)
c.1327C>T (p.Arg443Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.114402861G>CCA374618944WHRNc.961C>G (p.Arg321Gly)
c.2617C>G (p.Arg873Gly)
c.1590C>G
n.2498C>G
c.1468C>G (p.Arg490Gly)
c.1564C>G (p.Arg522Gly)
c.2614C>G (p.Arg872Gly)
c.1954C>G (p.Arg652Gly)
c.2650C>G (p.Arg884Gly)
c.2647C>G (p.Arg883Gly)
c.2524C>G (p.Arg842Gly)
c.2407C>G (p.Arg803Gly)
c.1327C>G (p.Arg443Gly)
9g.114402861G=CA1873825366WHRNc.961C= (p.Arg321=)
c.2617C= (p.Arg873=)
c.1590C=
n.2498C=
c.1468C= (p.Arg490=)
c.1564C= (p.Arg522=)
c.2614C= (p.Arg872=)
c.1954C= (p.Arg652=)
c.2650C= (p.Arg884=)
c.2647C= (p.Arg883=)
c.2524C= (p.Arg842=)
c.2407C= (p.Arg803=)
c.1327C= (p.Arg443=)
9g.114402861G>TCA466910867WHRNc.961C>A (p.Arg321=)
c.2617C>A (p.Arg873=)
c.1590C>A
n.2498C>A
c.1468C>A (p.Arg490=)
c.1564C>A (p.Arg522=)
c.2614C>A (p.Arg872=)
c.1954C>A (p.Arg652=)
c.2650C>A (p.Arg884=)
c.2647C>A (p.Arg883=)
c.2524C>A (p.Arg842=)
c.2407C>A (p.Arg803=)
c.1327C>A (p.Arg443=)
9g.114402862A=CA1873825367WHRNc.960T= (p.Leu320=)
c.2616T= (p.Leu872=)
c.1589T=
n.2497T=
c.1467T= (p.Leu489=)
c.1563T= (p.Leu521=)
c.2613T= (p.Leu871=)
c.1953T= (p.Leu651=)
c.2649T= (p.Leu883=)
c.2646T= (p.Leu882=)
c.2523T= (p.Leu841=)
c.2406T= (p.Leu802=)
c.1326T= (p.Leu442=)
9g.114402862A>CCA198648786WHRNc.960T>G (p.Leu320=)
c.2616T>G (p.Leu872=)
c.1589T>G
n.2497T>G
c.1467T>G (p.Leu489=)
c.1563T>G (p.Leu521=)
c.2613T>G (p.Leu871=)
c.1953T>G (p.Leu651=)
c.2649T>G (p.Leu883=)
c.2646T>G (p.Leu882=)
c.2523T>G (p.Leu841=)
c.2406T>G (p.Leu802=)
c.1326T>G (p.Leu442=)
 ClinVar dbSNP gnomAD v4
9g.114402862A>GCA466910868WHRNc.960T>C (p.Leu320=)
c.2616T>C (p.Leu872=)
c.1589T>C
n.2497T>C
c.1467T>C (p.Leu489=)
c.1563T>C (p.Leu521=)
c.2613T>C (p.Leu871=)
c.1953T>C (p.Leu651=)
c.2649T>C (p.Leu883=)
c.2646T>C (p.Leu882=)
c.2523T>C (p.Leu841=)
c.2406T>C (p.Leu802=)
c.1326T>C (p.Leu442=)
9g.114402862A>TCA466910869WHRNc.960T>A (p.Leu320=)
c.2616T>A (p.Leu872=)
c.1589T>A
n.2497T>A
c.1467T>A (p.Leu489=)
c.1563T>A (p.Leu521=)
c.2613T>A (p.Leu871=)
c.1953T>A (p.Leu651=)
c.2649T>A (p.Leu883=)
c.2646T>A (p.Leu882=)
c.2523T>A (p.Leu841=)
c.2406T>A (p.Leu802=)
c.1326T>A (p.Leu442=)
9g.114402863A>CCA374618945WHRNc.959T>G (p.Leu320Arg)
c.2615T>G (p.Leu872Arg)
c.1588T>G
n.2496T>G
c.1466T>G (p.Leu489Arg)
c.1562T>G (p.Leu521Arg)
c.2612T>G (p.Leu871Arg)
c.1952T>G (p.Leu651Arg)
c.2648T>G (p.Leu883Arg)
c.2645T>G (p.Leu882Arg)
c.2522T>G (p.Leu841Arg)
c.2405T>G (p.Leu802Arg)
c.1325T>G (p.Leu442Arg)
9g.114402863A>GCA374618946WHRNc.959T>C (p.Leu320Pro)
c.2615T>C (p.Leu872Pro)
c.1588T>C
n.2496T>C
c.1466T>C (p.Leu489Pro)
c.1562T>C (p.Leu521Pro)
c.2612T>C (p.Leu871Pro)
c.1952T>C (p.Leu651Pro)
c.2648T>C (p.Leu883Pro)
c.2645T>C (p.Leu882Pro)
c.2522T>C (p.Leu841Pro)
c.2405T>C (p.Leu802Pro)
c.1325T>C (p.Leu442Pro)
9g.114402863A>TCA374618947WHRNc.959T>A (p.Leu320His)
c.2615T>A (p.Leu872His)
c.1588T>A
n.2496T>A
c.1466T>A (p.Leu489His)
c.1562T>A (p.Leu521His)
c.2612T>A (p.Leu871His)
c.1952T>A (p.Leu651His)
c.2648T>A (p.Leu883His)
c.2645T>A (p.Leu882His)
c.2522T>A (p.Leu841His)
c.2405T>A (p.Leu802His)
c.1325T>A (p.Leu442His)
9g.114402864G>ACA5205570WHRNc.958C>T (p.Leu320Phe)
c.2614C>T (p.Leu872Phe)
c.1587C>T
n.2495C>T
c.1465C>T (p.Leu489Phe)
c.1561C>T (p.Leu521Phe)
c.2611C>T (p.Leu871Phe)
c.1951C>T (p.Leu651Phe)
c.2647C>T (p.Leu883Phe)
c.2644C>T (p.Leu882Phe)
c.2521C>T (p.Leu841Phe)
c.2404C>T (p.Leu802Phe)
c.1324C>T (p.Leu442Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114402864G>CCA374618948WHRNc.958C>G (p.Leu320Val)
c.2614C>G (p.Leu872Val)
c.1587C>G
n.2495C>G
c.1465C>G (p.Leu489Val)
c.1561C>G (p.Leu521Val)
c.2611C>G (p.Leu871Val)
c.1951C>G (p.Leu651Val)
c.2647C>G (p.Leu883Val)
c.2644C>G (p.Leu882Val)
c.2521C>G (p.Leu841Val)
c.2404C>G (p.Leu802Val)
c.1324C>G (p.Leu442Val)
9g.114402864G=CA1873825368WHRNc.958C= (p.Leu320=)
c.2614C= (p.Leu872=)
c.1587C=
n.2495C=
c.1465C= (p.Leu489=)
c.1561C= (p.Leu521=)
c.2611C= (p.Leu871=)
c.1951C= (p.Leu651=)
c.2647C= (p.Leu883=)
c.2644C= (p.Leu882=)
c.2521C= (p.Leu841=)
c.2404C= (p.Leu802=)
c.1324C= (p.Leu442=)
9g.114402864G>TCA374618949WHRNc.958C>A (p.Leu320Ile)
c.2614C>A (p.Leu872Ile)
c.1587C>A
n.2495C>A
c.1465C>A (p.Leu489Ile)
c.1561C>A (p.Leu521Ile)
c.2611C>A (p.Leu871Ile)
c.1951C>A (p.Leu651Ile)
c.2647C>A (p.Leu883Ile)
c.2644C>A (p.Leu882Ile)
c.2521C>A (p.Leu841Ile)
c.2404C>A (p.Leu802Ile)
c.1324C>A (p.Leu442Ile)
9g.114402865C>ACA466910878WHRNc.957G>T (p.Thr319=)
c.2613G>T (p.Thr871=)
c.1586G>T
n.2494G>T
c.1464G>T (p.Thr488=)
c.1560G>T (p.Thr520=)
c.2610G>T (p.Thr870=)
c.1950G>T (p.Thr650=)
c.2646G>T (p.Thr882=)
c.2643G>T (p.Thr881=)
c.2520G>T (p.Thr840=)
c.2403G>T (p.Thr801=)
c.1323G>T (p.Thr441=)
 ClinVar
9g.114402865C=CA1873825369WHRNc.957G= (p.Thr319=)
c.2613G= (p.Thr871=)
c.1586G=
n.2494G=
c.1464G= (p.Thr488=)
c.1560G= (p.Thr520=)
c.2610G= (p.Thr870=)
c.1950G= (p.Thr650=)
c.2646G= (p.Thr882=)
c.2643G= (p.Thr881=)
c.2520G= (p.Thr840=)
c.2403G= (p.Thr801=)
c.1323G= (p.Thr441=)
9g.114402865C>GCA466910875WHRNc.957G>C (p.Thr319=)
c.2613G>C (p.Thr871=)
c.1586G>C
n.2494G>C
c.1464G>C (p.Thr488=)
c.1560G>C (p.Thr520=)
c.2610G>C (p.Thr870=)
c.1950G>C (p.Thr650=)
c.2646G>C (p.Thr882=)
c.2643G>C (p.Thr881=)
c.2520G>C (p.Thr840=)
c.2403G>C (p.Thr801=)
c.1323G>C (p.Thr441=)
9g.114402865C>TCA466910876WHRNc.957G>A (p.Thr319=)
c.2613G>A (p.Thr871=)
c.1586G>A
n.2494G>A
c.1464G>A (p.Thr488=)
c.1560G>A (p.Thr520=)
c.2610G>A (p.Thr870=)
c.1950G>A (p.Thr650=)
c.2646G>A (p.Thr882=)
c.2643G>A (p.Thr881=)
c.2520G>A (p.Thr840=)
c.2403G>A (p.Thr801=)
c.1323G>A (p.Thr441=)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
9g.114402866G>ACA5205571WHRNc.956C>T (p.Thr319Met)
c.2612C>T (p.Thr871Met)
c.1585C>T
n.2493C>T
c.1463C>T (p.Thr488Met)
c.1559C>T (p.Thr520Met)
c.2609C>T (p.Thr870Met)
c.1949C>T (p.Thr650Met)
c.2645C>T (p.Thr882Met)
c.2642C>T (p.Thr881Met)
c.2519C>T (p.Thr840Met)
c.2402C>T (p.Thr801Met)
c.1322C>T (p.Thr441Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114402866G>CCA374618950WHRNc.956C>G (p.Thr319Arg)
c.2612C>G (p.Thr871Arg)
c.1585C>G
n.2493C>G
c.1463C>G (p.Thr488Arg)
c.1559C>G (p.Thr520Arg)
c.2609C>G (p.Thr870Arg)
c.1949C>G (p.Thr650Arg)
c.2645C>G (p.Thr882Arg)
c.2642C>G (p.Thr881Arg)
c.2519C>G (p.Thr840Arg)
c.2402C>G (p.Thr801Arg)
c.1322C>G (p.Thr441Arg)
9g.114402866G=CA1873825370WHRNc.956C= (p.Thr319=)
c.2612C= (p.Thr871=)
c.1585C=
n.2493C=
c.1463C= (p.Thr488=)
c.1559C= (p.Thr520=)
c.2609C= (p.Thr870=)
c.1949C= (p.Thr650=)
c.2645C= (p.Thr882=)
c.2642C= (p.Thr881=)
c.2519C= (p.Thr840=)
c.2402C= (p.Thr801=)
c.1322C= (p.Thr441=)
9g.114402866G>TCA374618951WHRNc.956C>A (p.Thr319Lys)
c.2612C>A (p.Thr871Lys)
c.1585C>A
n.2493C>A
c.1463C>A (p.Thr488Lys)
c.1559C>A (p.Thr520Lys)
c.2609C>A (p.Thr870Lys)
c.1949C>A (p.Thr650Lys)
c.2645C>A (p.Thr882Lys)
c.2642C>A (p.Thr881Lys)
c.2519C>A (p.Thr840Lys)
c.2402C>A (p.Thr801Lys)
c.1322C>A (p.Thr441Lys)
9g.114402867T>ACA374618953WHRNc.955A>T (p.Thr319Ser)
c.2611A>T (p.Thr871Ser)
c.1584A>T
n.2492A>T
c.1462A>T (p.Thr488Ser)
c.1558A>T (p.Thr520Ser)
c.2608A>T (p.Thr870Ser)
c.1948A>T (p.Thr650Ser)
c.2644A>T (p.Thr882Ser)
c.2641A>T (p.Thr881Ser)
c.2518A>T (p.Thr840Ser)
c.2401A>T (p.Thr801Ser)
c.1321A>T (p.Thr441Ser)
9g.114402867T>CCA5205572WHRNc.955A>G (p.Thr319Ala)
c.2611A>G (p.Thr871Ala)
c.1584A>G
n.2492A>G
c.1462A>G (p.Thr488Ala)
c.1558A>G (p.Thr520Ala)
c.2608A>G (p.Thr870Ala)
c.1948A>G (p.Thr650Ala)
c.2644A>G (p.Thr882Ala)
c.2641A>G (p.Thr881Ala)
c.2518A>G (p.Thr840Ala)
c.2401A>G (p.Thr801Ala)
c.1321A>G (p.Thr441Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114402867T>GCA374618952WHRNc.955A>C (p.Thr319Pro)
c.2611A>C (p.Thr871Pro)
c.1584A>C
n.2492A>C
c.1462A>C (p.Thr488Pro)
c.1558A>C (p.Thr520Pro)
c.2608A>C (p.Thr870Pro)
c.1948A>C (p.Thr650Pro)
c.2644A>C (p.Thr882Pro)
c.2641A>C (p.Thr881Pro)
c.2518A>C (p.Thr840Pro)
c.2401A>C (p.Thr801Pro)
c.1321A>C (p.Thr441Pro)
9g.114402867T=CA1873825371WHRNc.955A= (p.Thr319=)
c.2611A= (p.Thr871=)
c.1584A=
n.2492A=
c.1462A= (p.Thr488=)
c.1558A= (p.Thr520=)
c.2608A= (p.Thr870=)
c.1948A= (p.Thr650=)
c.2644A= (p.Thr882=)
c.2641A= (p.Thr881=)
c.2518A= (p.Thr840=)
c.2401A= (p.Thr801=)
c.1321A= (p.Thr441=)
9g.114402868C>ACA466910884WHRNc.954G>T (p.Leu318=)
c.2610G>T (p.Leu870=)
c.1583G>T
n.2491G>T
c.1461G>T (p.Leu487=)
c.1557G>T (p.Leu519=)
c.2607G>T (p.Leu869=)
c.1947G>T (p.Leu649=)
c.2643G>T (p.Leu881=)
c.2640G>T (p.Leu880=)
c.2517G>T (p.Leu839=)
c.2400G>T (p.Leu800=)
c.1320G>T (p.Leu440=)
9g.114402868C=CA1873825372WHRNc.954G= (p.Leu318=)
c.2610G= (p.Leu870=)
c.1583G=
n.2491G=
c.1461G= (p.Leu487=)
c.1557G= (p.Leu519=)
c.2607G= (p.Leu869=)
c.1947G= (p.Leu649=)
c.2643G= (p.Leu881=)
c.2640G= (p.Leu880=)
c.2517G= (p.Leu839=)
c.2400G= (p.Leu800=)
c.1320G= (p.Leu440=)
9g.114402868C>GCA466910885WHRNc.954G>C (p.Leu318=)
c.2610G>C (p.Leu870=)
c.1583G>C
n.2491G>C
c.1461G>C (p.Leu487=)
c.1557G>C (p.Leu519=)
c.2607G>C (p.Leu869=)
c.1947G>C (p.Leu649=)
c.2643G>C (p.Leu881=)
c.2640G>C (p.Leu880=)
c.2517G>C (p.Leu839=)
c.2400G>C (p.Leu800=)
c.1320G>C (p.Leu440=)
9g.114402868C>TCA466910886WHRNc.954G>A (p.Leu318=)
c.2610G>A (p.Leu870=)
c.1583G>A
n.2491G>A
c.1461G>A (p.Leu487=)
c.1557G>A (p.Leu519=)
c.2607G>A (p.Leu869=)
c.1947G>A (p.Leu649=)
c.2643G>A (p.Leu881=)
c.2640G>A (p.Leu880=)
c.2517G>A (p.Leu839=)
c.2400G>A (p.Leu800=)
c.1320G>A (p.Leu440=)
 dbSNP
9g.114402869A>CCA374618954WHRNc.953T>G (p.Leu318Arg)
c.2609T>G (p.Leu870Arg)
c.1582T>G
n.2490T>G
c.1460T>G (p.Leu487Arg)
c.1556T>G (p.Leu519Arg)
c.2606T>G (p.Leu869Arg)
c.1946T>G (p.Leu649Arg)
c.2642T>G (p.Leu881Arg)
c.2639T>G (p.Leu880Arg)
c.2516T>G (p.Leu839Arg)
c.2399T>G (p.Leu800Arg)
c.1319T>G (p.Leu440Arg)
9g.114402869A>GCA374618955WHRNc.953T>C (p.Leu318Pro)
c.2609T>C (p.Leu870Pro)
c.1582T>C
n.2490T>C
c.1460T>C (p.Leu487Pro)
c.1556T>C (p.Leu519Pro)
c.2606T>C (p.Leu869Pro)
c.1946T>C (p.Leu649Pro)
c.2642T>C (p.Leu881Pro)
c.2639T>C (p.Leu880Pro)
c.2516T>C (p.Leu839Pro)
c.2399T>C (p.Leu800Pro)
c.1319T>C (p.Leu440Pro)
9g.114402869A>TCA374618956WHRNc.953T>A (p.Leu318Gln)
c.2609T>A (p.Leu870Gln)
c.1582T>A
n.2490T>A
c.1460T>A (p.Leu487Gln)
c.1556T>A (p.Leu519Gln)
c.2606T>A (p.Leu869Gln)
c.1946T>A (p.Leu649Gln)
c.2642T>A (p.Leu881Gln)
c.2639T>A (p.Leu880Gln)
c.2516T>A (p.Leu839Gln)
c.2399T>A (p.Leu800Gln)
c.1319T>A (p.Leu440Gln)
9g.114402870G>ACA466910893WHRNc.952C>T (p.Leu318=)
c.2608C>T (p.Leu870=)
c.1581C>T
n.2489C>T
c.1459C>T (p.Leu487=)
c.1555C>T (p.Leu519=)
c.2605C>T (p.Leu869=)
c.1945C>T (p.Leu649=)
c.2641C>T (p.Leu881=)
c.2638C>T (p.Leu880=)
c.2515C>T (p.Leu839=)
c.2398C>T (p.Leu800=)
c.1318C>T (p.Leu440=)
 dbSNP gnomAD v3 gnomAD v4
9g.114402870G>CCA374618957WHRNc.952C>G (p.Leu318Val)
c.2608C>G (p.Leu870Val)
c.1581C>G
n.2489C>G
c.1459C>G (p.Leu487Val)
c.1555C>G (p.Leu519Val)
c.2605C>G (p.Leu869Val)
c.1945C>G (p.Leu649Val)
c.2641C>G (p.Leu881Val)
c.2638C>G (p.Leu880Val)
c.2515C>G (p.Leu839Val)
c.2398C>G (p.Leu800Val)
c.1318C>G (p.Leu440Val)
9g.114402870G=CA1873825373WHRNc.952C= (p.Leu318=)
c.2608C= (p.Leu870=)
c.1581C=
n.2489C=
c.1459C= (p.Leu487=)
c.1555C= (p.Leu519=)
c.2605C= (p.Leu869=)
c.1945C= (p.Leu649=)
c.2641C= (p.Leu881=)
c.2638C= (p.Leu880=)
c.2515C= (p.Leu839=)
c.2398C= (p.Leu800=)
c.1318C= (p.Leu440=)
9g.114402870G>TCA374618958WHRNc.952C>A (p.Leu318Met)
c.2608C>A (p.Leu870Met)
c.1581C>A
n.2489C>A
c.1459C>A (p.Leu487Met)
c.1555C>A (p.Leu519Met)
c.2605C>A (p.Leu869Met)
c.1945C>A (p.Leu649Met)
c.2641C>A (p.Leu881Met)
c.2638C>A (p.Leu880Met)
c.2515C>A (p.Leu839Met)
c.2398C>A (p.Leu800Met)
c.1318C>A (p.Leu440Met)
9g.114402871C>ACA466910895WHRNc.951G>T (p.Gly317=)
c.2607G>T (p.Gly869=)
c.1580G>T
n.2488G>T
c.1458G>T (p.Gly486=)
c.1554G>T (p.Gly518=)
c.2604G>T (p.Gly868=)
c.1944G>T (p.Gly648=)
c.2640G>T (p.Gly880=)
c.2637G>T (p.Gly879=)
c.2514G>T (p.Gly838=)
c.2397G>T (p.Gly799=)
c.1317G>T (p.Gly439=)
 gnomAD v4
9g.114402871C>GCA466910899WHRNc.951G>C (p.Gly317=)
c.2607G>C (p.Gly869=)
c.1580G>C
n.2488G>C
c.1458G>C (p.Gly486=)
c.1554G>C (p.Gly518=)
c.2604G>C (p.Gly868=)
c.1944G>C (p.Gly648=)
c.2640G>C (p.Gly880=)
c.2637G>C (p.Gly879=)
c.2514G>C (p.Gly838=)
c.2397G>C (p.Gly799=)
c.1317G>C (p.Gly439=)
9g.114402871C>TCA466910897WHRNc.951G>A (p.Gly317=)
c.2607G>A (p.Gly869=)
c.1580G>A
n.2488G>A
c.1458G>A (p.Gly486=)
c.1554G>A (p.Gly518=)
c.2604G>A (p.Gly868=)
c.1944G>A (p.Gly648=)
c.2640G>A (p.Gly880=)
c.2637G>A (p.Gly879=)
c.2514G>A (p.Gly838=)
c.2397G>A (p.Gly799=)
c.1317G>A (p.Gly439=)
 gnomAD v4
9g.114402872C>ACA374618959WHRNc.950G>T (p.Gly317Val)
c.2606G>T (p.Gly869Val)
c.1579G>T
n.2487G>T
c.1457G>T (p.Gly486Val)
c.1553G>T (p.Gly518Val)
c.2603G>T (p.Gly868Val)
c.1943G>T (p.Gly648Val)
c.2639G>T (p.Gly880Val)
c.2636G>T (p.Gly879Val)
c.2513G>T (p.Gly838Val)
c.2396G>T (p.Gly799Val)
c.1316G>T (p.Gly439Val)
9g.114402872C=CA1873825374WHRNc.950G= (p.Gly317=)
c.2606G= (p.Gly869=)
c.1579G=
n.2487G=
c.1457G= (p.Gly486=)
c.1553G= (p.Gly518=)
c.2603G= (p.Gly868=)
c.1943G= (p.Gly648=)
c.2639G= (p.Gly880=)
c.2636G= (p.Gly879=)
c.2513G= (p.Gly838=)
c.2396G= (p.Gly799=)
c.1316G= (p.Gly439=)
9g.114402872C>GCA374618960WHRNc.950G>C (p.Gly317Ala)
c.2606G>C (p.Gly869Ala)
c.1579G>C
n.2487G>C
c.1457G>C (p.Gly486Ala)
c.1553G>C (p.Gly518Ala)
c.2603G>C (p.Gly868Ala)
c.1943G>C (p.Gly648Ala)
c.2639G>C (p.Gly880Ala)
c.2636G>C (p.Gly879Ala)
c.2513G>C (p.Gly838Ala)
c.2396G>C (p.Gly799Ala)
c.1316G>C (p.Gly439Ala)
9g.114402872C>TCA374618961WHRNc.950G>A (p.Gly317Glu)
c.2606G>A (p.Gly869Glu)
c.1579G>A
n.2487G>A
c.1457G>A (p.Gly486Glu)
c.1553G>A (p.Gly518Glu)
c.2603G>A (p.Gly868Glu)
c.1943G>A (p.Gly648Glu)
c.2639G>A (p.Gly880Glu)
c.2636G>A (p.Gly879Glu)
c.2513G>A (p.Gly838Glu)
c.2396G>A (p.Gly799Glu)
c.1316G>A (p.Gly439Glu)
 dbSNP gnomAD v4
9g.114402873C>ACA374618962WHRNc.949G>T (p.Gly317Trp)
c.2605G>T (p.Gly869Trp)
c.1578G>T
n.2486G>T
c.1456G>T (p.Gly486Trp)
c.1552G>T (p.Gly518Trp)
c.2602G>T (p.Gly868Trp)
c.1942G>T (p.Gly648Trp)
c.2638G>T (p.Gly880Trp)
c.2635G>T (p.Gly879Trp)
c.2512G>T (p.Gly838Trp)
c.2395G>T (p.Gly799Trp)
c.1315G>T (p.Gly439Trp)
9g.114402873C>GCA374618963WHRNc.949G>C (p.Gly317Arg)
c.2605G>C (p.Gly869Arg)
c.1578G>C
n.2486G>C
c.1456G>C (p.Gly486Arg)
c.1552G>C (p.Gly518Arg)
c.2602G>C (p.Gly868Arg)
c.1942G>C (p.Gly648Arg)
c.2638G>C (p.Gly880Arg)
c.2635G>C (p.Gly879Arg)
c.2512G>C (p.Gly838Arg)
c.2395G>C (p.Gly799Arg)
c.1315G>C (p.Gly439Arg)
9g.114402873C>TCA374618964WHRNc.949G>A (p.Gly317Arg)
c.2605G>A (p.Gly869Arg)
c.1578G>A
n.2486G>A
c.1456G>A (p.Gly486Arg)
c.1552G>A (p.Gly518Arg)
c.2602G>A (p.Gly868Arg)
c.1942G>A (p.Gly648Arg)
c.2638G>A (p.Gly880Arg)
c.2635G>A (p.Gly879Arg)
c.2512G>A (p.Gly838Arg)
c.2395G>A (p.Gly799Arg)
c.1315G>A (p.Gly439Arg)
9g.114402874A=CA1873825375WHRNc.948T= (p.Asn316=)
c.2604T= (p.Asn868=)
c.1577T=
n.2485T=
c.1455T= (p.Asn485=)
c.1551T= (p.Asn517=)
c.2601T= (p.Asn867=)
c.1941T= (p.Asn647=)
c.2637T= (p.Asn879=)
c.2634T= (p.Asn878=)
c.2511T= (p.Asn837=)
c.2394T= (p.Asn798=)
c.1314T= (p.Asn438=)
9g.114402874A>CCA374618965WHRNc.948T>G (p.Asn316Lys)
c.2604T>G (p.Asn868Lys)
c.1577T>G
n.2485T>G
c.1455T>G (p.Asn485Lys)
c.1551T>G (p.Asn517Lys)
c.2601T>G (p.Asn867Lys)
c.1941T>G (p.Asn647Lys)
c.2637T>G (p.Asn879Lys)
c.2634T>G (p.Asn878Lys)
c.2511T>G (p.Asn837Lys)
c.2394T>G (p.Asn798Lys)
c.1314T>G (p.Asn438Lys)
9g.114402874A>GCA466910904WHRNc.948T>C (p.Asn316=)
c.2604T>C (p.Asn868=)
c.1577T>C
n.2485T>C
c.1455T>C (p.Asn485=)
c.1551T>C (p.Asn517=)
c.2601T>C (p.Asn867=)
c.1941T>C (p.Asn647=)
c.2637T>C (p.Asn879=)
c.2634T>C (p.Asn878=)
c.2511T>C (p.Asn837=)
c.2394T>C (p.Asn798=)
c.1314T>C (p.Asn438=)
 dbSNP gnomAD v3 gnomAD v4
9g.114402874A>TCA374618966WHRNc.948T>A (p.Asn316Lys)
c.2604T>A (p.Asn868Lys)
c.1577T>A
n.2485T>A
c.1455T>A (p.Asn485Lys)
c.1551T>A (p.Asn517Lys)
c.2601T>A (p.Asn867Lys)
c.1941T>A (p.Asn647Lys)
c.2637T>A (p.Asn879Lys)
c.2634T>A (p.Asn878Lys)
c.2511T>A (p.Asn837Lys)
c.2394T>A (p.Asn798Lys)
c.1314T>A (p.Asn438Lys)
9g.114402875T>ACA374618969WHRNc.947A>T (p.Asn316Ile)
c.2603A>T (p.Asn868Ile)
c.1576A>T
n.2484A>T
c.1454A>T (p.Asn485Ile)
c.1550A>T (p.Asn517Ile)
c.2600A>T (p.Asn867Ile)
c.1940A>T (p.Asn647Ile)
c.2636A>T (p.Asn879Ile)
c.2633A>T (p.Asn878Ile)
c.2510A>T (p.Asn837Ile)
c.2393A>T (p.Asn798Ile)
c.1313A>T (p.Asn438Ile)
9g.114402875T>CCA374618968WHRNc.947A>G (p.Asn316Ser)
c.2603A>G (p.Asn868Ser)
c.1576A>G
n.2484A>G
c.1454A>G (p.Asn485Ser)
c.1550A>G (p.Asn517Ser)
c.2600A>G (p.Asn867Ser)
c.1940A>G (p.Asn647Ser)
c.2636A>G (p.Asn879Ser)
c.2633A>G (p.Asn878Ser)
c.2510A>G (p.Asn837Ser)
c.2393A>G (p.Asn798Ser)
c.1313A>G (p.Asn438Ser)
 gnomAD v4
9g.114402875T>GCA374618967WHRNc.947A>C (p.Asn316Thr)
c.2603A>C (p.Asn868Thr)
c.1576A>C
n.2484A>C
c.1454A>C (p.Asn485Thr)
c.1550A>C (p.Asn517Thr)
c.2600A>C (p.Asn867Thr)
c.1940A>C (p.Asn647Thr)
c.2636A>C (p.Asn879Thr)
c.2633A>C (p.Asn878Thr)
c.2510A>C (p.Asn837Thr)
c.2393A>C (p.Asn798Thr)
c.1313A>C (p.Asn438Thr)
9g.114402876T>ACA374618970WHRNc.946A>T (p.Asn316Tyr)
c.2602A>T (p.Asn868Tyr)
c.1575A>T
n.2483A>T
c.1453A>T (p.Asn485Tyr)
c.1549A>T (p.Asn517Tyr)
c.2599A>T (p.Asn867Tyr)
c.1939A>T (p.Asn647Tyr)
c.2635A>T (p.Asn879Tyr)
c.2632A>T (p.Asn878Tyr)
c.2509A>T (p.Asn837Tyr)
c.2392A>T (p.Asn798Tyr)
c.1312A>T (p.Asn438Tyr)
9g.114402876T>CCA374618971WHRNc.946A>G (p.Asn316Asp)
c.2602A>G (p.Asn868Asp)
c.1575A>G
n.2483A>G
c.1453A>G (p.Asn485Asp)
c.1549A>G (p.Asn517Asp)
c.2599A>G (p.Asn867Asp)
c.1939A>G (p.Asn647Asp)
c.2635A>G (p.Asn879Asp)
c.2632A>G (p.Asn878Asp)
c.2509A>G (p.Asn837Asp)
c.2392A>G (p.Asn798Asp)
c.1312A>G (p.Asn438Asp)
9g.114402876T>GCA374618972WHRNc.946A>C (p.Asn316His)
c.2602A>C (p.Asn868His)
c.1575A>C
n.2483A>C
c.1453A>C (p.Asn485His)
c.1549A>C (p.Asn517His)
c.2599A>C (p.Asn867His)
c.1939A>C (p.Asn647His)
c.2635A>C (p.Asn879His)
c.2632A>C (p.Asn878His)
c.2509A>C (p.Asn837His)
c.2392A>C (p.Asn798His)
c.1312A>C (p.Asn438His)
9g.114402877C>ACA466910909WHRNc.945G>T (p.Val315=)
c.2601G>T (p.Val867=)
c.1574G>T
n.2482G>T
c.1452G>T (p.Val484=)
c.1548G>T (p.Val516=)
c.2598G>T (p.Val866=)
c.1938G>T (p.Val646=)
c.2634G>T (p.Val878=)
c.2631G>T (p.Val877=)
c.2508G>T (p.Val836=)
c.2391G>T (p.Val797=)
c.1311G>T (p.Val437=)
9g.114402877C>GCA466910910WHRNc.945G>C (p.Val315=)
c.2601G>C (p.Val867=)
c.1574G>C
n.2482G>C
c.1452G>C (p.Val484=)
c.1548G>C (p.Val516=)
c.2598G>C (p.Val866=)
c.1938G>C (p.Val646=)
c.2634G>C (p.Val878=)
c.2631G>C (p.Val877=)
c.2508G>C (p.Val836=)
c.2391G>C (p.Val797=)
c.1311G>C (p.Val437=)
9g.114402877C>TCA466910911WHRNc.945G>A (p.Val315=)
c.2601G>A (p.Val867=)
c.1574G>A
n.2482G>A
c.1452G>A (p.Val484=)
c.1548G>A (p.Val516=)
c.2598G>A (p.Val866=)
c.1938G>A (p.Val646=)
c.2634G>A (p.Val878=)
c.2631G>A (p.Val877=)
c.2508G>A (p.Val836=)
c.2391G>A (p.Val797=)
c.1311G>A (p.Val437=)
9g.114402878A>CCA374618973WHRNc.944T>G (p.Val315Gly)
c.2600T>G (p.Val867Gly)
c.1573T>G
n.2481T>G
c.1451T>G (p.Val484Gly)
c.1547T>G (p.Val516Gly)
c.2597T>G (p.Val866Gly)
c.1937T>G (p.Val646Gly)
c.2633T>G (p.Val878Gly)
c.2630T>G (p.Val877Gly)
c.2507T>G (p.Val836Gly)
c.2390T>G (p.Val797Gly)
c.1310T>G (p.Val437Gly)
9g.114402878A>GCA374618974WHRNc.944T>C (p.Val315Ala)
c.2600T>C (p.Val867Ala)
c.1573T>C
n.2481T>C
c.1451T>C (p.Val484Ala)
c.1547T>C (p.Val516Ala)
c.2597T>C (p.Val866Ala)
c.1937T>C (p.Val646Ala)
c.2633T>C (p.Val878Ala)
c.2630T>C (p.Val877Ala)
c.2507T>C (p.Val836Ala)
c.2390T>C (p.Val797Ala)
c.1310T>C (p.Val437Ala)
9g.114402878A>TCA374618975WHRNc.944T>A (p.Val315Glu)
c.2600T>A (p.Val867Glu)
c.1573T>A
n.2481T>A
c.1451T>A (p.Val484Glu)
c.1547T>A (p.Val516Glu)
c.2597T>A (p.Val866Glu)
c.1937T>A (p.Val646Glu)
c.2633T>A (p.Val878Glu)
c.2630T>A (p.Val877Glu)
c.2507T>A (p.Val836Glu)
c.2390T>A (p.Val797Glu)
c.1310T>A (p.Val437Glu)
9g.114402879C>ACA374618976WHRNc.943G>T (p.Val315Leu)
c.2599G>T (p.Val867Leu)
c.1572G>T
n.2480G>T
c.1450G>T (p.Val484Leu)
c.1546G>T (p.Val516Leu)
c.2596G>T (p.Val866Leu)
c.1936G>T (p.Val646Leu)
c.2632G>T (p.Val878Leu)
c.2629G>T (p.Val877Leu)
c.2506G>T (p.Val836Leu)
c.2389G>T (p.Val797Leu)
c.1309G>T (p.Val437Leu)
9g.114402879C>GCA374618977WHRNc.943G>C (p.Val315Leu)
c.2599G>C (p.Val867Leu)
c.1572G>C
n.2480G>C
c.1450G>C (p.Val484Leu)
c.1546G>C (p.Val516Leu)
c.2596G>C (p.Val866Leu)
c.1936G>C (p.Val646Leu)
c.2632G>C (p.Val878Leu)
c.2629G>C (p.Val877Leu)
c.2506G>C (p.Val836Leu)
c.2389G>C (p.Val797Leu)
c.1309G>C (p.Val437Leu)
9g.114402879C>TCA374618978WHRNc.943G>A (p.Val315Met)
c.2599G>A (p.Val867Met)
c.1572G>A
n.2480G>A
c.1450G>A (p.Val484Met)
c.1546G>A (p.Val516Met)
c.2596G>A (p.Val866Met)
c.1936G>A (p.Val646Met)
c.2632G>A (p.Val878Met)
c.2629G>A (p.Val877Met)
c.2506G>A (p.Val836Met)
c.2389G>A (p.Val797Met)
c.1309G>A (p.Val437Met)
9g.114402880T>ACA374618979WHRNc.942A>T (p.Glu314Asp)
c.2598A>T (p.Glu866Asp)
c.1571A>T
n.2479A>T
c.1449A>T (p.Glu483Asp)
c.1545A>T (p.Glu515Asp)
c.2595A>T (p.Glu865Asp)
c.1935A>T (p.Glu645Asp)
c.2631A>T (p.Glu877Asp)
c.2628A>T (p.Glu876Asp)
c.2505A>T (p.Glu835Asp)
c.2388A>T (p.Glu796Asp)
c.1308A>T (p.Glu436Asp)
9g.114402880T>CCA466910916WHRNc.942A>G (p.Glu314=)
c.2598A>G (p.Glu866=)
c.1571A>G
n.2479A>G
c.1449A>G (p.Glu483=)
c.1545A>G (p.Glu515=)
c.2595A>G (p.Glu865=)
c.1935A>G (p.Glu645=)
c.2631A>G (p.Glu877=)
c.2628A>G (p.Glu876=)
c.2505A>G (p.Glu835=)
c.2388A>G (p.Glu796=)
c.1308A>G (p.Glu436=)
9g.114402880T>GCA374618980WHRNc.942A>C (p.Glu314Asp)
c.2598A>C (p.Glu866Asp)
c.1571A>C
n.2479A>C
c.1449A>C (p.Glu483Asp)
c.1545A>C (p.Glu515Asp)
c.2595A>C (p.Glu865Asp)
c.1935A>C (p.Glu645Asp)
c.2631A>C (p.Glu877Asp)
c.2628A>C (p.Glu876Asp)
c.2505A>C (p.Glu835Asp)
c.2388A>C (p.Glu796Asp)
c.1308A>C (p.Glu436Asp)
9g.114402881T>ACA374618981WHRNc.941A>T (p.Glu314Val)
c.2597A>T (p.Glu866Val)
c.1570A>T
n.2478A>T
c.1448A>T (p.Glu483Val)
c.1544A>T (p.Glu515Val)
c.2594A>T (p.Glu865Val)
c.1934A>T (p.Glu645Val)
c.2630A>T (p.Glu877Val)
c.2627A>T (p.Glu876Val)
c.2504A>T (p.Glu835Val)
c.2387A>T (p.Glu796Val)
c.1307A>T (p.Glu436Val)
9g.114402881T>CCA374618982WHRNc.941A>G (p.Glu314Gly)
c.2597A>G (p.Glu866Gly)
c.1570A>G
n.2478A>G
c.1448A>G (p.Glu483Gly)
c.1544A>G (p.Glu515Gly)
c.2594A>G (p.Glu865Gly)
c.1934A>G (p.Glu645Gly)
c.2630A>G (p.Glu877Gly)
c.2627A>G (p.Glu876Gly)
c.2504A>G (p.Glu835Gly)
c.2387A>G (p.Glu796Gly)
c.1307A>G (p.Glu436Gly)
9g.114402881T>GCA374618983WHRNc.941A>C (p.Glu314Ala)
c.2597A>C (p.Glu866Ala)
c.1570A>C
n.2478A>C
c.1448A>C (p.Glu483Ala)
c.1544A>C (p.Glu515Ala)
c.2594A>C (p.Glu865Ala)
c.1934A>C (p.Glu645Ala)
c.2630A>C (p.Glu877Ala)
c.2627A>C (p.Glu876Ala)
c.2504A>C (p.Glu835Ala)
c.2387A>C (p.Glu796Ala)
c.1307A>C (p.Glu436Ala)
9g.114402882C>ACA374618985WHRNc.940G>T (p.Glu314Ter)
c.2596G>T (p.Glu866Ter)
c.1569G>T
n.2477G>T
c.1447G>T (p.Glu483Ter)
c.1543G>T (p.Glu515Ter)
c.2593G>T (p.Glu865Ter)
c.1933G>T (p.Glu645Ter)
c.2629G>T (p.Glu877Ter)
c.2626G>T (p.Glu876Ter)
c.2503G>T (p.Glu835Ter)
c.2386G>T (p.Glu796Ter)
c.1306G>T (p.Glu436Ter)
 gnomAD v4
9g.114402882C>GCA374618986WHRNc.940G>C (p.Glu314Gln)
c.2596G>C (p.Glu866Gln)
c.1569G>C
n.2477G>C
c.1447G>C (p.Glu483Gln)
c.1543G>C (p.Glu515Gln)
c.2593G>C (p.Glu865Gln)
c.1933G>C (p.Glu645Gln)
c.2629G>C (p.Glu877Gln)
c.2626G>C (p.Glu876Gln)
c.2503G>C (p.Glu835Gln)
c.2386G>C (p.Glu796Gln)
c.1306G>C (p.Glu436Gln)
9g.114402882C>TCA374618984WHRNc.940G>A (p.Glu314Lys)
c.2596G>A (p.Glu866Lys)
c.1569G>A
n.2477G>A
c.1447G>A (p.Glu483Lys)
c.1543G>A (p.Glu515Lys)
c.2593G>A (p.Glu865Lys)
c.1933G>A (p.Glu645Lys)
c.2629G>A (p.Glu877Lys)
c.2626G>A (p.Glu876Lys)
c.2503G>A (p.Glu835Lys)
c.2386G>A (p.Glu796Lys)
c.1306G>A (p.Glu436Lys)
9g.114402883C>ACA466910920WHRNc.939G>T (p.Leu313=)
c.2595G>T (p.Leu865=)
c.1568G>T
n.2476G>T
c.1446G>T (p.Leu482=)
c.1542G>T (p.Leu514=)
c.2592G>T (p.Leu864=)
c.1932G>T (p.Leu644=)
c.2628G>T (p.Leu876=)
c.2625G>T (p.Leu875=)
c.2502G>T (p.Leu834=)
c.2385G>T (p.Leu795=)
c.1305G>T (p.Leu435=)
9g.114402883C=CA1873825376WHRNc.939G= (p.Leu313=)
c.2595G= (p.Leu865=)
c.1568G=
n.2476G=
c.1446G= (p.Leu482=)
c.1542G= (p.Leu514=)
c.2592G= (p.Leu864=)
c.1932G= (p.Leu644=)
c.2628G= (p.Leu876=)
c.2625G= (p.Leu875=)
c.2502G= (p.Leu834=)
c.2385G= (p.Leu795=)
c.1305G= (p.Leu435=)
9g.114402883C>GCA466910921WHRNc.939G>C (p.Leu313=)
c.2595G>C (p.Leu865=)
c.1568G>C
n.2476G>C
c.1446G>C (p.Leu482=)
c.1542G>C (p.Leu514=)
c.2592G>C (p.Leu864=)
c.1932G>C (p.Leu644=)
c.2628G>C (p.Leu876=)
c.2625G>C (p.Leu875=)
c.2502G>C (p.Leu834=)
c.2385G>C (p.Leu795=)
c.1305G>C (p.Leu435=)
9g.114402883C>TCA5205573WHRNc.939G>A (p.Leu313=)
c.2595G>A (p.Leu865=)
c.1568G>A
n.2476G>A
c.1446G>A (p.Leu482=)
c.1542G>A (p.Leu514=)
c.2592G>A (p.Leu864=)
c.1932G>A (p.Leu644=)
c.2628G>A (p.Leu876=)
c.2625G>A (p.Leu875=)
c.2502G>A (p.Leu834=)
c.2385G>A (p.Leu795=)
c.1305G>A (p.Leu435=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.114402884A>CCA374618987WHRNc.938T>G (p.Leu313Arg)
c.2594T>G (p.Leu865Arg)
c.1567T>G
n.2475T>G
c.1445T>G (p.Leu482Arg)
c.1541T>G (p.Leu514Arg)
c.2591T>G (p.Leu864Arg)
c.1931T>G (p.Leu644Arg)
c.2627T>G (p.Leu876Arg)
c.2624T>G (p.Leu875Arg)
c.2501T>G (p.Leu834Arg)
c.2384T>G (p.Leu795Arg)
c.1304T>G (p.Leu435Arg)
9g.114402884A>GCA374618988WHRNc.938T>C (p.Leu313Pro)
c.2594T>C (p.Leu865Pro)
c.1567T>C
n.2475T>C
c.1445T>C (p.Leu482Pro)
c.1541T>C (p.Leu514Pro)
c.2591T>C (p.Leu864Pro)
c.1931T>C (p.Leu644Pro)
c.2627T>C (p.Leu876Pro)
c.2624T>C (p.Leu875Pro)
c.2501T>C (p.Leu834Pro)
c.2384T>C (p.Leu795Pro)
c.1304T>C (p.Leu435Pro)
9g.114402884A>TCA374618989WHRNc.938T>A (p.Leu313Gln)
c.2594T>A (p.Leu865Gln)
c.1567T>A
n.2475T>A
c.1445T>A (p.Leu482Gln)
c.1541T>A (p.Leu514Gln)
c.2591T>A (p.Leu864Gln)
c.1931T>A (p.Leu644Gln)
c.2627T>A (p.Leu876Gln)
c.2624T>A (p.Leu875Gln)
c.2501T>A (p.Leu834Gln)
c.2384T>A (p.Leu795Gln)
c.1304T>A (p.Leu435Gln)
9g.114402885G>ACA466910927WHRNc.937C>T (p.Leu313=)
c.2593C>T (p.Leu865=)
c.1566C>T
n.2474C>T
c.1444C>T (p.Leu482=)
c.1540C>T (p.Leu514=)
c.2590C>T (p.Leu864=)
c.1930C>T (p.Leu644=)
c.2626C>T (p.Leu876=)
c.2623C>T (p.Leu875=)
c.2500C>T (p.Leu834=)
c.2383C>T (p.Leu795=)
c.1303C>T (p.Leu435=)
 gnomAD v4
9g.114402885G>CCA374618990WHRNc.937C>G (p.Leu313Val)
c.2593C>G (p.Leu865Val)
c.1566C>G
n.2474C>G
c.1444C>G (p.Leu482Val)
c.1540C>G (p.Leu514Val)
c.2590C>G (p.Leu864Val)
c.1930C>G (p.Leu644Val)
c.2626C>G (p.Leu876Val)
c.2623C>G (p.Leu875Val)
c.2500C>G (p.Leu834Val)
c.2383C>G (p.Leu795Val)
c.1303C>G (p.Leu435Val)
9g.114402885G=CA1873825377WHRNc.937C= (p.Leu313=)
c.2593C= (p.Leu865=)
c.1566C=
n.2474C=
c.1444C= (p.Leu482=)
c.1540C= (p.Leu514=)
c.2590C= (p.Leu864=)
c.1930C= (p.Leu644=)
c.2626C= (p.Leu876=)
c.2623C= (p.Leu875=)
c.2500C= (p.Leu834=)
c.2383C= (p.Leu795=)
c.1303C= (p.Leu435=)
9g.114402885G>TCA374618991WHRNc.937C>A (p.Leu313Met)
c.2593C>A (p.Leu865Met)
c.1566C>A
n.2474C>A
c.1444C>A (p.Leu482Met)
c.1540C>A (p.Leu514Met)
c.2590C>A (p.Leu864Met)
c.1930C>A (p.Leu644Met)
c.2626C>A (p.Leu876Met)
c.2623C>A (p.Leu875Met)
c.2500C>A (p.Leu834Met)
c.2383C>A (p.Leu795Met)
c.1303C>A (p.Leu435Met)
9g.114402885_114402886insTCA198648790WHRNc.936_937insA (p.Leu313ThrfsTer27)
c.2592_2593insA (p.Leu865ThrfsTer27)
c.1565_1566insA
n.2473_2474insA
c.1443_1444insA (p.Leu482ThrfsTer27)
c.1539_1540insA (p.Leu514ThrfsTer27)
c.2589_2590insA (p.Leu864ThrfsTer27)
c.1929_1930insA (p.Leu644ThrfsTer27)
c.2625_2626insA (p.Leu876ThrfsTer27)
c.2622_2623insA (p.Leu875ThrfsTer27)
c.2499_2500insA (p.Leu834ThrfsTer27)
c.2382_2383insA (p.Leu795ThrfsTer27)
c.1302_1303insA (p.Leu435ThrfsTer27)
 dbSNP
9g.114402886A=CA1873825378WHRNc.936T= (p.Ile312=)
c.2592T= (p.Ile864=)
c.1565T=
n.2473T=
c.1443T= (p.Ile481=)
c.1539T= (p.Ile513=)
c.2589T= (p.Ile863=)
c.1929T= (p.Ile643=)
c.2625T= (p.Ile875=)
c.2622T= (p.Ile874=)
c.2499T= (p.Ile833=)
c.2382T= (p.Ile794=)
c.1302T= (p.Ile434=)
9g.114402886A>CCA374618992WHRNc.936T>G (p.Ile312Met)
c.2592T>G (p.Ile864Met)
c.1565T>G
n.2473T>G
c.1443T>G (p.Ile481Met)
c.1539T>G (p.Ile513Met)
c.2589T>G (p.Ile863Met)
c.1929T>G (p.Ile643Met)
c.2625T>G (p.Ile875Met)
c.2622T>G (p.Ile874Met)
c.2499T>G (p.Ile833Met)
c.2382T>G (p.Ile794Met)
c.1302T>G (p.Ile434Met)
9g.114402886A>GCA466910929WHRNc.936T>C (p.Ile312=)
c.2592T>C (p.Ile864=)
c.1565T>C
n.2473T>C
c.1443T>C (p.Ile481=)
c.1539T>C (p.Ile513=)
c.2589T>C (p.Ile863=)
c.1929T>C (p.Ile643=)
c.2625T>C (p.Ile875=)
c.2622T>C (p.Ile874=)
c.2499T>C (p.Ile833=)
c.2382T>C (p.Ile794=)
c.1302T>C (p.Ile434=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.114402886A>TCA466910931WHRNc.936T>A (p.Ile312=)
c.2592T>A (p.Ile864=)
c.1565T>A
n.2473T>A
c.1443T>A (p.Ile481=)
c.1539T>A (p.Ile513=)
c.2589T>A (p.Ile863=)
c.1929T>A (p.Ile643=)
c.2625T>A (p.Ile875=)
c.2622T>A (p.Ile874=)
c.2499T>A (p.Ile833=)
c.2382T>A (p.Ile794=)
c.1302T>A (p.Ile434=)
9g.114402887A>CCA374618993WHRNc.935T>G (p.Ile312Ser)
c.2591T>G (p.Ile864Ser)
c.1564T>G
n.2472T>G
c.1442T>G (p.Ile481Ser)
c.1538T>G (p.Ile513Ser)
c.2588T>G (p.Ile863Ser)
c.1928T>G (p.Ile643Ser)
c.2624T>G (p.Ile875Ser)
c.2621T>G (p.Ile874Ser)
c.2498T>G (p.Ile833Ser)
c.2381T>G (p.Ile794Ser)
c.1301T>G (p.Ile434Ser)
9g.114402887A>GCA374618994WHRNc.935T>C (p.Ile312Thr)
c.2591T>C (p.Ile864Thr)
c.1564T>C
n.2472T>C
c.1442T>C (p.Ile481Thr)
c.1538T>C (p.Ile513Thr)
c.2588T>C (p.Ile863Thr)
c.1928T>C (p.Ile643Thr)
c.2624T>C (p.Ile875Thr)
c.2621T>C (p.Ile874Thr)
c.2498T>C (p.Ile833Thr)
c.2381T>C (p.Ile794Thr)
c.1301T>C (p.Ile434Thr)
9g.114402887A>TCA374618995WHRNc.935T>A (p.Ile312Asn)
c.2591T>A (p.Ile864Asn)
c.1564T>A
n.2472T>A
c.1442T>A (p.Ile481Asn)
c.1538T>A (p.Ile513Asn)
c.2588T>A (p.Ile863Asn)
c.1928T>A (p.Ile643Asn)
c.2624T>A (p.Ile875Asn)
c.2621T>A (p.Ile874Asn)
c.2498T>A (p.Ile833Asn)
c.2381T>A (p.Ile794Asn)
c.1301T>A (p.Ile434Asn)
9g.114402888T>ACA374618996WHRNc.934A>T (p.Ile312Phe)
c.2590A>T (p.Ile864Phe)
c.1563A>T
n.2471A>T
c.1441A>T (p.Ile481Phe)
c.1537A>T (p.Ile513Phe)
c.2587A>T (p.Ile863Phe)
c.1927A>T (p.Ile643Phe)
c.2623A>T (p.Ile875Phe)
c.2620A>T (p.Ile874Phe)
c.2497A>T (p.Ile833Phe)
c.2380A>T (p.Ile794Phe)
c.1300A>T (p.Ile434Phe)
 gnomAD v4
9g.114402888T>CCA374618997WHRNc.934A>G (p.Ile312Val)
c.2590A>G (p.Ile864Val)
c.1563A>G
n.2471A>G
c.1441A>G (p.Ile481Val)
c.1537A>G (p.Ile513Val)
c.2587A>G (p.Ile863Val)
c.1927A>G (p.Ile643Val)
c.2623A>G (p.Ile875Val)
c.2620A>G (p.Ile874Val)
c.2497A>G (p.Ile833Val)
c.2380A>G (p.Ile794Val)
c.1300A>G (p.Ile434Val)
9g.114402888T>GCA374618998WHRNc.934A>C (p.Ile312Leu)
c.2590A>C (p.Ile864Leu)
c.1563A>C
n.2471A>C
c.1441A>C (p.Ile481Leu)
c.1537A>C (p.Ile513Leu)
c.2587A>C (p.Ile863Leu)
c.1927A>C (p.Ile643Leu)
c.2623A>C (p.Ile875Leu)
c.2620A>C (p.Ile874Leu)
c.2497A>C (p.Ile833Leu)
c.2380A>C (p.Ile794Leu)
c.1300A>C (p.Ile434Leu)
9g.114402889C>ACA466910936WHRNc.933G>T (p.Val311=)
c.2589G>T (p.Val863=)
c.1562G>T
n.2470G>T
c.1440G>T (p.Val480=)
c.1536G>T (p.Val512=)
c.2586G>T (p.Val862=)
c.1926G>T (p.Val642=)
c.2622G>T (p.Val874=)
c.2619G>T (p.Val873=)
c.2496G>T (p.Val832=)
c.2379G>T (p.Val793=)
c.1299G>T (p.Val433=)
9g.114402889C=CA1873825379WHRNc.933G= (p.Val311=)
c.2589G= (p.Val863=)
c.1562G=
n.2470G=
c.1440G= (p.Val480=)
c.1536G= (p.Val512=)
c.2586G= (p.Val862=)
c.1926G= (p.Val642=)
c.2622G= (p.Val874=)
c.2619G= (p.Val873=)
c.2496G= (p.Val832=)
c.2379G= (p.Val793=)
c.1299G= (p.Val433=)
9g.114402889C>GCA466910937WHRNc.933G>C (p.Val311=)
c.2589G>C (p.Val863=)
c.1562G>C
n.2470G>C
c.1440G>C (p.Val480=)
c.1536G>C (p.Val512=)
c.2586G>C (p.Val862=)
c.1926G>C (p.Val642=)
c.2622G>C (p.Val874=)
c.2619G>C (p.Val873=)
c.2496G>C (p.Val832=)
c.2379G>C (p.Val793=)
c.1299G>C (p.Val433=)
 dbSNP gnomAD v3 gnomAD v4
9g.114402889C>TCA466910938WHRNc.933G>A (p.Val311=)
c.2589G>A (p.Val863=)
c.1562G>A
n.2470G>A
c.1440G>A (p.Val480=)
c.1536G>A (p.Val512=)
c.2586G>A (p.Val862=)
c.1926G>A (p.Val642=)
c.2622G>A (p.Val874=)
c.2619G>A (p.Val873=)
c.2496G>A (p.Val832=)
c.2379G>A (p.Val793=)
c.1299G>A (p.Val433=)
9g.114402890A>CCA374618999WHRNc.932T>G (p.Val311Gly)
c.2588T>G (p.Val863Gly)
c.1561T>G
n.2469T>G
c.1439T>G (p.Val480Gly)
c.1535T>G (p.Val512Gly)
c.2585T>G (p.Val862Gly)
c.1925T>G (p.Val642Gly)
c.2621T>G (p.Val874Gly)
c.2618T>G (p.Val873Gly)
c.2495T>G (p.Val832Gly)
c.2378T>G (p.Val793Gly)
c.1298T>G (p.Val433Gly)
9g.114402890A>GCA374619001WHRNc.932T>C (p.Val311Ala)
c.2588T>C (p.Val863Ala)
c.1561T>C
n.2469T>C
c.1439T>C (p.Val480Ala)
c.1535T>C (p.Val512Ala)
c.2585T>C (p.Val862Ala)
c.1925T>C (p.Val642Ala)
c.2621T>C (p.Val874Ala)
c.2618T>C (p.Val873Ala)
c.2495T>C (p.Val832Ala)
c.2378T>C (p.Val793Ala)
c.1298T>C (p.Val433Ala)
9g.114402890A>TCA374619000WHRNc.932T>A (p.Val311Glu)
c.2588T>A (p.Val863Glu)
c.1561T>A
n.2469T>A
c.1439T>A (p.Val480Glu)
c.1535T>A (p.Val512Glu)
c.2585T>A (p.Val862Glu)
c.1925T>A (p.Val642Glu)
c.2621T>A (p.Val874Glu)
c.2618T>A (p.Val873Glu)
c.2495T>A (p.Val832Glu)
c.2378T>A (p.Val793Glu)
c.1298T>A (p.Val433Glu)
9g.114402891C>ACA374619002WHRNc.931G>T (p.Val311Leu)
c.2587G>T (p.Val863Leu)
c.1560G>T
n.2468G>T
c.1438G>T (p.Val480Leu)
c.1534G>T (p.Val512Leu)
c.2584G>T (p.Val862Leu)
c.1924G>T (p.Val642Leu)
c.2620G>T (p.Val874Leu)
c.2617G>T (p.Val873Leu)
c.2494G>T (p.Val832Leu)
c.2377G>T (p.Val793Leu)
c.1297G>T (p.Val433Leu)
9g.114402891C=CA1873825380WHRNc.931G= (p.Val311=)
c.2587G= (p.Val863=)
c.1560G=
n.2468G=
c.1438G= (p.Val480=)
c.1534G= (p.Val512=)
c.2584G= (p.Val862=)
c.1924G= (p.Val642=)
c.2620G= (p.Val874=)
c.2617G= (p.Val873=)
c.2494G= (p.Val832=)
c.2377G= (p.Val793=)
c.1297G= (p.Val433=)
9g.114402891C>GCA374619003WHRNc.931G>C (p.Val311Leu)
c.2587G>C (p.Val863Leu)
c.1560G>C
n.2468G>C
c.1438G>C (p.Val480Leu)
c.1534G>C (p.Val512Leu)
c.2584G>C (p.Val862Leu)
c.1924G>C (p.Val642Leu)
c.2620G>C (p.Val874Leu)
c.2617G>C (p.Val873Leu)
c.2494G>C (p.Val832Leu)
c.2377G>C (p.Val793Leu)
c.1297G>C (p.Val433Leu)
9g.114402891C>TCA5205574WHRNc.931G>A (p.Val311Met)
c.2587G>A (p.Val863Met)
c.1560G>A
n.2468G>A
c.1438G>A (p.Val480Met)
c.1534G>A (p.Val512Met)
c.2584G>A (p.Val862Met)
c.1924G>A (p.Val642Met)
c.2620G>A (p.Val874Met)
c.2617G>A (p.Val873Met)
c.2494G>A (p.Val832Met)
c.2377G>A (p.Val793Met)
c.1297G>A (p.Val433Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114402892G>ACA5205575WHRNc.930C>T (p.His310=)
c.2586C>T (p.His862=)
c.1559C>T
n.2467C>T
c.1437C>T (p.His479=)
c.1533C>T (p.His511=)
c.2583C>T (p.His861=)
c.1923C>T (p.His641=)
c.2619C>T (p.His873=)
c.2616C>T (p.His872=)
c.2493C>T (p.His831=)
c.2376C>T (p.His792=)
c.1296C>T (p.His432=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114402892G>CCA374619004WHRNc.930C>G (p.His310Gln)
c.2586C>G (p.His862Gln)
c.1559C>G
n.2467C>G
c.1437C>G (p.His479Gln)
c.1533C>G (p.His511Gln)
c.2583C>G (p.His861Gln)
c.1923C>G (p.His641Gln)
c.2619C>G (p.His873Gln)
c.2616C>G (p.His872Gln)
c.2493C>G (p.His831Gln)
c.2376C>G (p.His792Gln)
c.1296C>G (p.His432Gln)
9g.114402892G=CA1873825381WHRNc.930C= (p.His310=)
c.2586C= (p.His862=)
c.1559C=
n.2467C=
c.1437C= (p.His479=)
c.1533C= (p.His511=)
c.2583C= (p.His861=)
c.1923C= (p.His641=)
c.2619C= (p.His873=)
c.2616C= (p.His872=)
c.2493C= (p.His831=)
c.2376C= (p.His792=)
c.1296C= (p.His432=)
9g.114402892G>TCA136920WHRNc.930C>A (p.His310Gln)
c.2586C>A (p.His862Gln)
c.1559C>A
n.2467C>A
c.1437C>A (p.His479Gln)
c.1533C>A (p.His511Gln)
c.2583C>A (p.His861Gln)
c.1923C>A (p.His641Gln)
c.2619C>A (p.His873Gln)
c.2616C>A (p.His872Gln)
c.2493C>A (p.His831Gln)
c.2376C>A (p.His792Gln)
c.1296C>A (p.His432Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114402893T>ACA374619005WHRNc.929A>T (p.His310Leu)
c.2585A>T (p.His862Leu)
c.1558A>T
n.2466A>T
c.1436A>T (p.His479Leu)
c.1532A>T (p.His511Leu)
c.2582A>T (p.His861Leu)
c.1922A>T (p.His641Leu)
c.2618A>T (p.His873Leu)
c.2615A>T (p.His872Leu)
c.2492A>T (p.His831Leu)
c.2375A>T (p.His792Leu)
c.1295A>T (p.His432Leu)
9g.114402893T>CCA374619006WHRNc.929A>G (p.His310Arg)
c.2585A>G (p.His862Arg)
c.1558A>G
n.2466A>G
c.1436A>G (p.His479Arg)
c.1532A>G (p.His511Arg)
c.2582A>G (p.His861Arg)
c.1922A>G (p.His641Arg)
c.2618A>G (p.His873Arg)
c.2615A>G (p.His872Arg)
c.2492A>G (p.His831Arg)
c.2375A>G (p.His792Arg)
c.1295A>G (p.His432Arg)
9g.114402893T>GCA374619007WHRNc.929A>C (p.His310Pro)
c.2585A>C (p.His862Pro)
c.1558A>C
n.2466A>C
c.1436A>C (p.His479Pro)
c.1532A>C (p.His511Pro)
c.2582A>C (p.His861Pro)
c.1922A>C (p.His641Pro)
c.2618A>C (p.His873Pro)
c.2615A>C (p.His872Pro)
c.2492A>C (p.His831Pro)
c.2375A>C (p.His792Pro)
c.1295A>C (p.His432Pro)
9g.114402894G>ACA374619008WHRNc.928C>T (p.His310Tyr)
c.2584C>T (p.His862Tyr)
c.1557C>T
n.2465C>T
c.1435C>T (p.His479Tyr)
c.1531C>T (p.His511Tyr)
c.2581C>T (p.His861Tyr)
c.1921C>T (p.His641Tyr)
c.2617C>T (p.His873Tyr)
c.2614C>T (p.His872Tyr)
c.2491C>T (p.His831Tyr)
c.2374C>T (p.His792Tyr)
c.1294C>T (p.His432Tyr)
9g.114402894G>CCA374619009WHRNc.928C>G (p.His310Asp)
c.2584C>G (p.His862Asp)
c.1557C>G
n.2465C>G
c.1435C>G (p.His479Asp)
c.1531C>G (p.His511Asp)
c.2581C>G (p.His861Asp)
c.1921C>G (p.His641Asp)
c.2617C>G (p.His873Asp)
c.2614C>G (p.His872Asp)
c.2491C>G (p.His831Asp)
c.2374C>G (p.His792Asp)
c.1294C>G (p.His432Asp)
9g.114402894G>TCA374619010WHRNc.928C>A (p.His310Asn)
c.2584C>A (p.His862Asn)
c.1557C>A
n.2465C>A
c.1435C>A (p.His479Asn)
c.1531C>A (p.His511Asn)
c.2581C>A (p.His861Asn)
c.1921C>A (p.His641Asn)
c.2617C>A (p.His873Asn)
c.2614C>A (p.His872Asn)
c.2491C>A (p.His831Asn)
c.2374C>A (p.His792Asn)
c.1294C>A (p.His432Asn)
9g.114402895G>ACA466910959WHRNc.927C>T (p.Gly309=)
c.2583C>T (p.Gly861=)
c.1556C>T
n.2464C>T
c.1434C>T (p.Gly478=)
c.1530C>T (p.Gly510=)
c.2580C>T (p.Gly860=)
c.1920C>T (p.Gly640=)
c.2616C>T (p.Gly872=)
c.2613C>T (p.Gly871=)
c.2490C>T (p.Gly830=)
c.2373C>T (p.Gly791=)
c.1293C>T (p.Gly431=)
9g.114402895G>CCA466910960WHRNc.927C>G (p.Gly309=)
c.2583C>G (p.Gly861=)
c.1556C>G
n.2464C>G
c.1434C>G (p.Gly478=)
c.1530C>G (p.Gly510=)
c.2580C>G (p.Gly860=)
c.1920C>G (p.Gly640=)
c.2616C>G (p.Gly872=)
c.2613C>G (p.Gly871=)
c.2490C>G (p.Gly830=)
c.2373C>G (p.Gly791=)
c.1293C>G (p.Gly431=)
9g.114402895G>TCA466910961WHRNc.927C>A (p.Gly309=)
c.2583C>A (p.Gly861=)
c.1556C>A
n.2464C>A
c.1434C>A (p.Gly478=)
c.1530C>A (p.Gly510=)
c.2580C>A (p.Gly860=)
c.1920C>A (p.Gly640=)
c.2616C>A (p.Gly872=)
c.2613C>A (p.Gly871=)
c.2490C>A (p.Gly830=)
c.2373C>A (p.Gly791=)
c.1293C>A (p.Gly431=)
9g.114402896C>ACA374619012WHRNc.926G>T (p.Gly309Val)
c.2582G>T (p.Gly861Val)
c.1555G>T
n.2463G>T
c.1433G>T (p.Gly478Val)
c.1529G>T (p.Gly510Val)
c.2579G>T (p.Gly860Val)
c.1919G>T (p.Gly640Val)
c.2615G>T (p.Gly872Val)
c.2612G>T (p.Gly871Val)
c.2489G>T (p.Gly830Val)
c.2372G>T (p.Gly791Val)
c.1292G>T (p.Gly431Val)
9g.114402896C=CA1873825382WHRNc.926G= (p.Gly309=)
c.2582G= (p.Gly861=)
c.1555G=
n.2463G=
c.1433G= (p.Gly478=)
c.1529G= (p.Gly510=)
c.2579G= (p.Gly860=)
c.1919G= (p.Gly640=)
c.2615G= (p.Gly872=)
c.2612G= (p.Gly871=)
c.2489G= (p.Gly830=)
c.2372G= (p.Gly791=)
c.1292G= (p.Gly431=)
9g.114402896C>GCA374619013WHRNc.926G>C (p.Gly309Ala)
c.2582G>C (p.Gly861Ala)
c.1555G>C
n.2463G>C
c.1433G>C (p.Gly478Ala)
c.1529G>C (p.Gly510Ala)
c.2579G>C (p.Gly860Ala)
c.1919G>C (p.Gly640Ala)
c.2615G>C (p.Gly872Ala)
c.2612G>C (p.Gly871Ala)
c.2489G>C (p.Gly830Ala)
c.2372G>C (p.Gly791Ala)
c.1292G>C (p.Gly431Ala)
9g.114402896C>TCA374619011WHRNc.926G>A (p.Gly309Asp)
c.2582G>A (p.Gly861Asp)
c.1555G>A
n.2463G>A
c.1433G>A (p.Gly478Asp)
c.1529G>A (p.Gly510Asp)
c.2579G>A (p.Gly860Asp)
c.1919G>A (p.Gly640Asp)
c.2615G>A (p.Gly872Asp)
c.2612G>A (p.Gly871Asp)
c.2489G>A (p.Gly830Asp)
c.2372G>A (p.Gly791Asp)
c.1292G>A (p.Gly431Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.114402897C>ACA374619014WHRNc.925G>T (p.Gly309Cys)
c.2581G>T (p.Gly861Cys)
c.1554G>T
n.2462G>T
c.1432G>T (p.Gly478Cys)
c.1528G>T (p.Gly510Cys)
c.2578G>T (p.Gly860Cys)
c.1918G>T (p.Gly640Cys)
c.2614G>T (p.Gly872Cys)
c.2611G>T (p.Gly871Cys)
c.2488G>T (p.Gly830Cys)
c.2371G>T (p.Gly791Cys)
c.1291G>T (p.Gly431Cys)
9g.114402897C>GCA374619016WHRNc.925G>C (p.Gly309Arg)
c.2581G>C (p.Gly861Arg)
c.1554G>C
n.2462G>C
c.1432G>C (p.Gly478Arg)
c.1528G>C (p.Gly510Arg)
c.2578G>C (p.Gly860Arg)
c.1918G>C (p.Gly640Arg)
c.2614G>C (p.Gly872Arg)
c.2611G>C (p.Gly871Arg)
c.2488G>C (p.Gly830Arg)
c.2371G>C (p.Gly791Arg)
c.1291G>C (p.Gly431Arg)
9g.114402897C>TCA374619015WHRNc.925G>A (p.Gly309Ser)
c.2581G>A (p.Gly861Ser)
c.1554G>A
n.2462G>A
c.1432G>A (p.Gly478Ser)
c.1528G>A (p.Gly510Ser)
c.2578G>A (p.Gly860Ser)
c.1918G>A (p.Gly640Ser)
c.2614G>A (p.Gly872Ser)
c.2611G>A (p.Gly871Ser)
c.2488G>A (p.Gly830Ser)
c.2371G>A (p.Gly791Ser)
c.1291G>A (p.Gly431Ser)
9g.114402898C>ACA466910962WHRNc.924G>T (p.Val308=)
c.2580G>T (p.Val860=)
c.1553G>T
n.2461G>T
c.1431G>T (p.Val477=)
c.1527G>T (p.Val509=)
c.2577G>T (p.Val859=)
c.1917G>T (p.Val639=)
c.2613G>T (p.Val871=)
c.2610G>T (p.Val870=)
c.2487G>T (p.Val829=)
c.2370G>T (p.Val790=)
c.1290G>T (p.Val430=)
9g.114402898C>GCA466910963WHRNc.924G>C (p.Val308=)
c.2580G>C (p.Val860=)
c.1553G>C
n.2461G>C
c.1431G>C (p.Val477=)
c.1527G>C (p.Val509=)
c.2577G>C (p.Val859=)
c.1917G>C (p.Val639=)
c.2613G>C (p.Val871=)
c.2610G>C (p.Val870=)
c.2487G>C (p.Val829=)
c.2370G>C (p.Val790=)
c.1290G>C (p.Val430=)
9g.114402898C>TCA466910964WHRNc.924G>A (p.Val308=)
c.2580G>A (p.Val860=)
c.1553G>A
n.2461G>A
c.1431G>A (p.Val477=)
c.1527G>A (p.Val509=)
c.2577G>A (p.Val859=)
c.1917G>A (p.Val639=)
c.2613G>A (p.Val871=)
c.2610G>A (p.Val870=)
c.2487G>A (p.Val829=)
c.2370G>A (p.Val790=)
c.1290G>A (p.Val430=)
9g.114402899A>CCA374619017WHRNc.923T>G (p.Val308Gly)
c.2579T>G (p.Val860Gly)
c.1552T>G
n.2460T>G
c.1430T>G (p.Val477Gly)
c.1526T>G (p.Val509Gly)
c.2576T>G (p.Val859Gly)
c.1916T>G (p.Val639Gly)
c.2612T>G (p.Val871Gly)
c.2609T>G (p.Val870Gly)
c.2486T>G (p.Val829Gly)
c.2369T>G (p.Val790Gly)
c.1289T>G (p.Val430Gly)
9g.114402899A>GCA374619019WHRNc.923T>C (p.Val308Ala)
c.2579T>C (p.Val860Ala)
c.1552T>C
n.2460T>C
c.1430T>C (p.Val477Ala)
c.1526T>C (p.Val509Ala)
c.2576T>C (p.Val859Ala)
c.1916T>C (p.Val639Ala)
c.2612T>C (p.Val871Ala)
c.2609T>C (p.Val870Ala)
c.2486T>C (p.Val829Ala)
c.2369T>C (p.Val790Ala)
c.1289T>C (p.Val430Ala)
 gnomAD v4
9g.114402899A>TCA374619018WHRNc.923T>A (p.Val308Glu)
c.2579T>A (p.Val860Glu)
c.1552T>A
n.2460T>A
c.1430T>A (p.Val477Glu)
c.1526T>A (p.Val509Glu)
c.2576T>A (p.Val859Glu)
c.1916T>A (p.Val639Glu)
c.2612T>A (p.Val871Glu)
c.2609T>A (p.Val870Glu)
c.2486T>A (p.Val829Glu)
c.2369T>A (p.Val790Glu)
c.1289T>A (p.Val430Glu)
9g.114402900C>ACA374619020WHRNc.922G>T (p.Val308Leu)
c.2578G>T (p.Val860Leu)
c.1551G>T
n.2459G>T
c.1429G>T (p.Val477Leu)
c.1525G>T (p.Val509Leu)
c.2575G>T (p.Val859Leu)
c.1915G>T (p.Val639Leu)
c.2611G>T (p.Val871Leu)
c.2608G>T (p.Val870Leu)
c.2485G>T (p.Val829Leu)
c.2368G>T (p.Val790Leu)
c.1288G>T (p.Val430Leu)
9g.114402900C>GCA374619022WHRNc.922G>C (p.Val308Leu)
c.2578G>C (p.Val860Leu)
c.1551G>C
n.2459G>C
c.1429G>C (p.Val477Leu)
c.1525G>C (p.Val509Leu)
c.2575G>C (p.Val859Leu)
c.1915G>C (p.Val639Leu)
c.2611G>C (p.Val871Leu)
c.2608G>C (p.Val870Leu)
c.2485G>C (p.Val829Leu)
c.2368G>C (p.Val790Leu)
c.1288G>C (p.Val430Leu)
9g.114402900C>TCA374619021WHRNc.922G>A (p.Val308Met)
c.2578G>A (p.Val860Met)
c.1551G>A
n.2459G>A
c.1429G>A (p.Val477Met)
c.1525G>A (p.Val509Met)
c.2575G>A (p.Val859Met)
c.1915G>A (p.Val639Met)
c.2611G>A (p.Val871Met)
c.2608G>A (p.Val870Met)
c.2485G>A (p.Val829Met)
c.2368G>A (p.Val790Met)
c.1288G>A (p.Val430Met)
 gnomAD v4
9g.114402901C>ACA374619023WHRNc.921G>T (p.Lys307Asn)
c.2577G>T (p.Lys859Asn)
c.1550G>T
n.2458G>T
c.1428G>T (p.Lys476Asn)
c.1524G>T (p.Lys508Asn)
c.2574G>T (p.Lys858Asn)
c.1914G>T (p.Lys638Asn)
c.2610G>T (p.Lys870Asn)
c.2607G>T (p.Lys869Asn)
c.2484G>T (p.Lys828Asn)
c.2367G>T (p.Lys789Asn)
c.1287G>T (p.Lys429Asn)
9g.114402901C>GCA374619024WHRNc.921G>C (p.Lys307Asn)
c.2577G>C (p.Lys859Asn)
c.1550G>C
n.2458G>C
c.1428G>C (p.Lys476Asn)
c.1524G>C (p.Lys508Asn)
c.2574G>C (p.Lys858Asn)
c.1914G>C (p.Lys638Asn)
c.2610G>C (p.Lys870Asn)
c.2607G>C (p.Lys869Asn)
c.2484G>C (p.Lys828Asn)
c.2367G>C (p.Lys789Asn)
c.1287G>C (p.Lys429Asn)
9g.114402901C>TCA466910966WHRNc.921G>A (p.Lys307=)
c.2577G>A (p.Lys859=)
c.1550G>A
n.2458G>A
c.1428G>A (p.Lys476=)
c.1524G>A (p.Lys508=)
c.2574G>A (p.Lys858=)
c.1914G>A (p.Lys638=)
c.2610G>A (p.Lys870=)
c.2607G>A (p.Lys869=)
c.2484G>A (p.Lys828=)
c.2367G>A (p.Lys789=)
c.1287G>A (p.Lys429=)
 dbSNP
9g.114402902T>ACA374619025WHRNc.920A>T (p.Lys307Met)
c.2576A>T (p.Lys859Met)
c.1549A>T
n.2457A>T
c.1427A>T (p.Lys476Met)
c.1523A>T (p.Lys508Met)
c.2573A>T (p.Lys858Met)
c.1913A>T (p.Lys638Met)
c.2609A>T (p.Lys870Met)
c.2606A>T (p.Lys869Met)
c.2483A>T (p.Lys828Met)
c.2366A>T (p.Lys789Met)
c.1286A>T (p.Lys429Met)
9g.114402902T>CCA374619026WHRNc.920A>G (p.Lys307Arg)
c.2576A>G (p.Lys859Arg)
c.1549A>G
n.2457A>G
c.1427A>G (p.Lys476Arg)
c.1523A>G (p.Lys508Arg)
c.2573A>G (p.Lys858Arg)
c.1913A>G (p.Lys638Arg)
c.2609A>G (p.Lys870Arg)
c.2606A>G (p.Lys869Arg)
c.2483A>G (p.Lys828Arg)
c.2366A>G (p.Lys789Arg)
c.1286A>G (p.Lys429Arg)
 gnomAD v4
9g.114402902T>GCA374619027WHRNc.920A>C (p.Lys307Thr)
c.2576A>C (p.Lys859Thr)
c.1549A>C
n.2457A>C
c.1427A>C (p.Lys476Thr)
c.1523A>C (p.Lys508Thr)
c.2573A>C (p.Lys858Thr)
c.1913A>C (p.Lys638Thr)
c.2609A>C (p.Lys870Thr)
c.2606A>C (p.Lys869Thr)
c.2483A>C (p.Lys828Thr)
c.2366A>C (p.Lys789Thr)
c.1286A>C (p.Lys429Thr)
9g.114402903T>ACA374619028WHRNc.919A>T (p.Lys307Ter)
c.2575A>T (p.Lys859Ter)
c.1548A>T
n.2456A>T
c.1426A>T (p.Lys476Ter)
c.1522A>T (p.Lys508Ter)
c.2572A>T (p.Lys858Ter)
c.1912A>T (p.Lys638Ter)
c.2608A>T (p.Lys870Ter)
c.2605A>T (p.Lys869Ter)
c.2482A>T (p.Lys828Ter)
c.2365A>T (p.Lys789Ter)
c.1285A>T (p.Lys429Ter)
n.3512A>T
n.3410A>T
n.2823A>T
n.2721A>T
9g.114402903T>CCA374619029WHRNc.919A>G (p.Lys307Glu)
c.2575A>G (p.Lys859Glu)
c.1548A>G
n.2456A>G
c.1426A>G (p.Lys476Glu)
c.1522A>G (p.Lys508Glu)
c.2572A>G (p.Lys858Glu)
c.1912A>G (p.Lys638Glu)
c.2608A>G (p.Lys870Glu)
c.2605A>G (p.Lys869Glu)
c.2482A>G (p.Lys828Glu)
c.2365A>G (p.Lys789Glu)
c.1285A>G (p.Lys429Glu)
n.3512A>G
n.3410A>G
n.2823A>G
n.2721A>G
9g.114402903T>GCA374619030WHRNc.919A>C (p.Lys307Gln)
c.2575A>C (p.Lys859Gln)
c.1548A>C
n.2456A>C
c.1426A>C (p.Lys476Gln)
c.1522A>C (p.Lys508Gln)
c.2572A>C (p.Lys858Gln)
c.1912A>C (p.Lys638Gln)
c.2608A>C (p.Lys870Gln)
c.2605A>C (p.Lys869Gln)
c.2482A>C (p.Lys828Gln)
c.2365A>C (p.Lys789Gln)
c.1285A>C (p.Lys429Gln)
n.3512A>C
n.3410A>C
n.2823A>C
n.2721A>C
9g.114402904G>ACA5205576WHRNc.918C>T (p.Leu306=)
c.2574C>T (p.Leu858=)
c.1547C>T
n.2455C>T
c.1425C>T (p.Leu475=)
c.1521C>T (p.Leu507=)
c.2571C>T (p.Leu857=)
c.1911C>T (p.Leu637=)
c.2607C>T (p.Leu869=)
c.2604C>T (p.Leu868=)
c.2481C>T (p.Leu827=)
c.2364C>T (p.Leu788=)
c.1284C>T (p.Leu428=)
n.3511C>T
n.3409C>T
n.2822C>T
n.2720C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114402904G>CCA466910980WHRNc.918C>G (p.Leu306=)
c.2574C>G (p.Leu858=)
c.1547C>G
n.2455C>G
c.1425C>G (p.Leu475=)
c.1521C>G (p.Leu507=)
c.2571C>G (p.Leu857=)
c.1911C>G (p.Leu637=)
c.2607C>G (p.Leu869=)
c.2604C>G (p.Leu868=)
c.2481C>G (p.Leu827=)
c.2364C>G (p.Leu788=)
c.1284C>G (p.Leu428=)
n.3511C>G
n.3409C>G
n.2822C>G
n.2720C>G
 gnomAD v4
9g.114402904G=CA1873825383WHRNc.918C= (p.Leu306=)
c.2574C= (p.Leu858=)
c.1547C=
n.2455C=
c.1425C= (p.Leu475=)
c.1521C= (p.Leu507=)
c.2571C= (p.Leu857=)
c.1911C= (p.Leu637=)
c.2607C= (p.Leu869=)
c.2604C= (p.Leu868=)
c.2481C= (p.Leu827=)
c.2364C= (p.Leu788=)
c.1284C= (p.Leu428=)
n.3511C=
n.3409C=
n.2822C=
n.2720C=
9g.114402904G>TCA466910981WHRNc.918C>A (p.Leu306=)
c.2574C>A (p.Leu858=)
c.1547C>A
n.2455C>A
c.1425C>A (p.Leu475=)
c.1521C>A (p.Leu507=)
c.2571C>A (p.Leu857=)
c.1911C>A (p.Leu637=)
c.2607C>A (p.Leu869=)
c.2604C>A (p.Leu868=)
c.2481C>A (p.Leu827=)
c.2364C>A (p.Leu788=)
c.1284C>A (p.Leu428=)
n.3511C>A
n.3409C>A
n.2822C>A
n.2720C>A
9g.114402905A>CCA374619031WHRNc.917T>G (p.Leu306Arg)
c.2573T>G (p.Leu858Arg)
c.1546T>G
n.2454T>G
c.1424T>G (p.Leu475Arg)
c.1520T>G (p.Leu507Arg)
c.2570T>G (p.Leu857Arg)
c.1910T>G (p.Leu637Arg)
c.2606T>G (p.Leu869Arg)
c.2603T>G (p.Leu868Arg)
c.2480T>G (p.Leu827Arg)
c.2363T>G (p.Leu788Arg)
c.1283T>G (p.Leu428Arg)
n.3510T>G
n.3408T>G
n.2821T>G
n.2719T>G
9g.114402905A>GCA374619032WHRNc.917T>C (p.Leu306Pro)
c.2573T>C (p.Leu858Pro)
c.1546T>C
n.2454T>C
c.1424T>C (p.Leu475Pro)
c.1520T>C (p.Leu507Pro)
c.2570T>C (p.Leu857Pro)
c.1910T>C (p.Leu637Pro)
c.2606T>C (p.Leu869Pro)
c.2603T>C (p.Leu868Pro)
c.2480T>C (p.Leu827Pro)
c.2363T>C (p.Leu788Pro)
c.1283T>C (p.Leu428Pro)
n.3510T>C
n.3408T>C
n.2821T>C
n.2719T>C
9g.114402905A>TCA374619033WHRNc.917T>A (p.Leu306His)
c.2573T>A (p.Leu858His)
c.1546T>A
n.2454T>A
c.1424T>A (p.Leu475His)
c.1520T>A (p.Leu507His)
c.2570T>A (p.Leu857His)
c.1910T>A (p.Leu637His)
c.2606T>A (p.Leu869His)
c.2603T>A (p.Leu868His)
c.2480T>A (p.Leu827His)
c.2363T>A (p.Leu788His)
c.1283T>A (p.Leu428His)
n.3510T>A
n.3408T>A
n.2821T>A
n.2719T>A
9g.114402906G>ACA374619034WHRNc.916C>T (p.Leu306Phe)
c.2572C>T (p.Leu858Phe)
c.1545C>T
n.2453C>T
c.1423C>T (p.Leu475Phe)
c.1519C>T (p.Leu507Phe)
c.2569C>T (p.Leu857Phe)
c.1909C>T (p.Leu637Phe)
c.2605C>T (p.Leu869Phe)
c.2602C>T (p.Leu868Phe)
c.2479C>T (p.Leu827Phe)
c.2362C>T (p.Leu788Phe)
c.1282C>T (p.Leu428Phe)
n.3509C>T
n.3407C>T
n.2820C>T
n.2718C>T
 COSMIC
9g.114402906G>CCA374619035WHRNc.916C>G (p.Leu306Val)
c.2572C>G (p.Leu858Val)
c.1545C>G
n.2453C>G
c.1423C>G (p.Leu475Val)
c.1519C>G (p.Leu507Val)
c.2569C>G (p.Leu857Val)
c.1909C>G (p.Leu637Val)
c.2605C>G (p.Leu869Val)
c.2602C>G (p.Leu868Val)
c.2479C>G (p.Leu827Val)
c.2362C>G (p.Leu788Val)
c.1282C>G (p.Leu428Val)
n.3509C>G
n.3407C>G
n.2820C>G
n.2718C>G
9g.114402906G>TCA374619036WHRNc.916C>A (p.Leu306Ile)
c.2572C>A (p.Leu858Ile)
c.1545C>A
n.2453C>A
c.1423C>A (p.Leu475Ile)
c.1519C>A (p.Leu507Ile)
c.2569C>A (p.Leu857Ile)
c.1909C>A (p.Leu637Ile)
c.2605C>A (p.Leu869Ile)
c.2602C>A (p.Leu868Ile)
c.2479C>A (p.Leu827Ile)
c.2362C>A (p.Leu788Ile)
c.1282C>A (p.Leu428Ile)
n.3509C>A
n.3407C>A
n.2820C>A
n.2718C>A
9g.114402907C>ACA5205577WHRNc.915G>T (p.Gln305His)
c.2571G>T (p.Gln857His)
c.1544G>T
n.2452G>T
c.1422G>T (p.Gln474His)
c.1518G>T (p.Gln506His)
c.2568G>T (p.Gln856His)
c.1908G>T (p.Gln636His)
c.2604G>T (p.Gln868His)
c.2601G>T (p.Gln867His)
c.2478G>T (p.Gln826His)
c.2361G>T (p.Gln787His)
c.1281G>T (p.Gln427His)
n.3508G>T
n.3406G>T
n.2819G>T
n.2717G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114402907C=CA1873825384WHRNc.915G= (p.Gln305=)
c.2571G= (p.Gln857=)
c.1544G=
n.2452G=
c.1422G= (p.Gln474=)
c.1518G= (p.Gln506=)
c.2568G= (p.Gln856=)
c.1908G= (p.Gln636=)
c.2604G= (p.Gln868=)
c.2601G= (p.Gln867=)
c.2478G= (p.Gln826=)
c.2361G= (p.Gln787=)
c.1281G= (p.Gln427=)
n.3508G=
n.3406G=
n.2819G=
n.2717G=
9g.114402907C>GCA374619037WHRNc.915G>C (p.Gln305His)
c.2571G>C (p.Gln857His)
c.1544G>C
n.2452G>C
c.1422G>C (p.Gln474His)
c.1518G>C (p.Gln506His)
c.2568G>C (p.Gln856His)
c.1908G>C (p.Gln636His)
c.2604G>C (p.Gln868His)
c.2601G>C (p.Gln867His)
c.2478G>C (p.Gln826His)
c.2361G>C (p.Gln787His)
c.1281G>C (p.Gln427His)
n.3508G>C
n.3406G>C
n.2819G>C
n.2717G>C
9g.114402907C>TCA466910989WHRNc.915G>A (p.Gln305=)
c.2571G>A (p.Gln857=)
c.1544G>A
n.2452G>A
c.1422G>A (p.Gln474=)
c.1518G>A (p.Gln506=)
c.2568G>A (p.Gln856=)
c.1908G>A (p.Gln636=)
c.2604G>A (p.Gln868=)
c.2601G>A (p.Gln867=)
c.2478G>A (p.Gln826=)
c.2361G>A (p.Gln787=)
c.1281G>A (p.Gln427=)
n.3508G>A
n.3406G>A
n.2819G>A
n.2717G>A
 dbSNP gnomAD v4
9g.114402908T>ACA374619038WHRNc.914A>T (p.Gln305Leu)
c.2570A>T (p.Gln857Leu)
c.1543A>T
n.2451A>T
c.1421A>T (p.Gln474Leu)
c.1517A>T (p.Gln506Leu)
c.2567A>T (p.Gln856Leu)
c.1907A>T (p.Gln636Leu)
c.2603A>T (p.Gln868Leu)
c.2600A>T (p.Gln867Leu)
c.2477A>T (p.Gln826Leu)
c.2360A>T (p.Gln787Leu)
c.1280A>T (p.Gln427Leu)
n.3507A>T
n.3405A>T
n.2818A>T
n.2716A>T
9g.114402908T>CCA374619039WHRNc.914A>G (p.Gln305Arg)
c.2570A>G (p.Gln857Arg)
c.1543A>G
n.2451A>G
c.1421A>G (p.Gln474Arg)
c.1517A>G (p.Gln506Arg)
c.2567A>G (p.Gln856Arg)
c.1907A>G (p.Gln636Arg)
c.2603A>G (p.Gln868Arg)
c.2600A>G (p.Gln867Arg)
c.2477A>G (p.Gln826Arg)
c.2360A>G (p.Gln787Arg)
c.1280A>G (p.Gln427Arg)
n.3507A>G
n.3405A>G
n.2818A>G
n.2716A>G
9g.114402908T>GCA374619040WHRNc.914A>C (p.Gln305Pro)
c.2570A>C (p.Gln857Pro)
c.1543A>C
n.2451A>C
c.1421A>C (p.Gln474Pro)
c.1517A>C (p.Gln506Pro)
c.2567A>C (p.Gln856Pro)
c.1907A>C (p.Gln636Pro)
c.2603A>C (p.Gln868Pro)
c.2600A>C (p.Gln867Pro)
c.2477A>C (p.Gln826Pro)
c.2360A>C (p.Gln787Pro)
c.1280A>C (p.Gln427Pro)
n.3507A>C
n.3405A>C
n.2818A>C
n.2716A>C
9g.114402909G>ACA184272WHRNc.913C>T (p.Gln305Ter)
c.2569C>T (p.Gln857Ter)
c.1542C>T
n.2450C>T
c.1420C>T (p.Gln474Ter)
c.1516C>T (p.Gln506Ter)
c.2566C>T (p.Gln856Ter)
c.1906C>T (p.Gln636Ter)
c.2602C>T (p.Gln868Ter)
c.2599C>T (p.Gln867Ter)
c.2476C>T (p.Gln826Ter)
c.2359C>T (p.Gln787Ter)
c.1279C>T (p.Gln427Ter)
n.3506C>T
n.3404C>T
n.2817C>T
n.2715C>T
 ClinVar dbSNP gnomAD v4
9g.114402909G>CCA374619041WHRNc.913C>G (p.Gln305Glu)
c.2569C>G (p.Gln857Glu)
c.1542C>G
n.2450C>G
c.1420C>G (p.Gln474Glu)
c.1516C>G (p.Gln506Glu)
c.2566C>G (p.Gln856Glu)
c.1906C>G (p.Gln636Glu)
c.2602C>G (p.Gln868Glu)
c.2599C>G (p.Gln867Glu)
c.2476C>G (p.Gln826Glu)
c.2359C>G (p.Gln787Glu)
c.1279C>G (p.Gln427Glu)
n.3506C>G
n.3404C>G
n.2817C>G
n.2715C>G
9g.114402909G=CA1873825385WHRNc.913C= (p.Gln305=)
c.2569C= (p.Gln857=)
c.1542C=
n.2450C=
c.1420C= (p.Gln474=)
c.1516C= (p.Gln506=)
c.2566C= (p.Gln856=)
c.1906C= (p.Gln636=)
c.2602C= (p.Gln868=)
c.2599C= (p.Gln867=)
c.2476C= (p.Gln826=)
c.2359C= (p.Gln787=)
c.1279C= (p.Gln427=)
n.3506C=
n.3404C=
n.2817C=
n.2715C=
9g.114402909G>TCA374619042WHRNc.913C>A (p.Gln305Lys)
c.2569C>A (p.Gln857Lys)
c.1542C>A
n.2450C>A
c.1420C>A (p.Gln474Lys)
c.1516C>A (p.Gln506Lys)
c.2566C>A (p.Gln856Lys)
c.1906C>A (p.Gln636Lys)
c.2602C>A (p.Gln868Lys)
c.2599C>A (p.Gln867Lys)
c.2476C>A (p.Gln826Lys)
c.2359C>A (p.Gln787Lys)
c.1279C>A (p.Gln427Lys)
n.3506C>A
n.3404C>A
n.2817C>A
n.2715C>A
9g.114402910C>ACA466910996WHRNc.912G>T (p.Gly304=)
c.2568G>T (p.Gly856=)
c.1541G>T
n.2449G>T
c.1419G>T (p.Gly473=)
c.1515G>T (p.Gly505=)
c.2565G>T (p.Gly855=)
c.1905G>T (p.Gly635=)
c.2601G>T (p.Gly867=)
c.2598G>T (p.Gly866=)
c.2475G>T (p.Gly825=)
c.2358G>T (p.Gly786=)
c.1278G>T (p.Gly426=)
n.3505G>T
n.3403G>T
n.2816G>T
n.2714G>T
9g.114402910C>GCA466910998WHRNc.912G>C (p.Gly304=)
c.2568G>C (p.Gly856=)
c.1541G>C
n.2449G>C
c.1419G>C (p.Gly473=)
c.1515G>C (p.Gly505=)
c.2565G>C (p.Gly855=)
c.1905G>C (p.Gly635=)
c.2601G>C (p.Gly867=)
c.2598G>C (p.Gly866=)
c.2475G>C (p.Gly825=)
c.2358G>C (p.Gly786=)
c.1278G>C (p.Gly426=)
n.3505G>C
n.3403G>C
n.2816G>C
n.2714G>C
9g.114402910C>TCA466911001WHRNc.912G>A (p.Gly304=)
c.2568G>A (p.Gly856=)
c.1541G>A
n.2449G>A
c.1419G>A (p.Gly473=)
c.1515G>A (p.Gly505=)
c.2565G>A (p.Gly855=)
c.1905G>A (p.Gly635=)
c.2601G>A (p.Gly867=)
c.2598G>A (p.Gly866=)
c.2475G>A (p.Gly825=)
c.2358G>A (p.Gly786=)
c.1278G>A (p.Gly426=)
n.3505G>A
n.3403G>A
n.2816G>A
n.2714G>A
9g.114402911C>ACA5205578WHRNc.911G>T (p.Gly304Val)
c.2567G>T (p.Gly856Val)
c.1540G>T
n.2448G>T
c.1418G>T (p.Gly473Val)
c.1514G>T (p.Gly505Val)
c.2564G>T (p.Gly855Val)
c.1904G>T (p.Gly635Val)
c.2600G>T (p.Gly867Val)
c.2597G>T (p.Gly866Val)
c.2474G>T (p.Gly825Val)
c.2357G>T (p.Gly786Val)
c.1277G>T (p.Gly426Val)
n.3504G>T
n.3402G>T
n.2815G>T
n.2713G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.114402911C=CA1873825386WHRNc.911G= (p.Gly304=)
c.2567G= (p.Gly856=)
c.1540G=
n.2448G=
c.1418G= (p.Gly473=)
c.1514G= (p.Gly505=)
c.2564G= (p.Gly855=)
c.1904G= (p.Gly635=)
c.2600G= (p.Gly867=)
c.2597G= (p.Gly866=)
c.2474G= (p.Gly825=)
c.2357G= (p.Gly786=)
c.1277G= (p.Gly426=)
n.3504G=
n.3402G=
n.2815G=
n.2713G=
9g.114402911C>GCA374619043WHRNc.911G>C (p.Gly304Ala)
c.2567G>C (p.Gly856Ala)
c.1540G>C
n.2448G>C
c.1418G>C (p.Gly473Ala)
c.1514G>C (p.Gly505Ala)
c.2564G>C (p.Gly855Ala)
c.1904G>C (p.Gly635Ala)
c.2600G>C (p.Gly867Ala)
c.2597G>C (p.Gly866Ala)
c.2474G>C (p.Gly825Ala)
c.2357G>C (p.Gly786Ala)
c.1277G>C (p.Gly426Ala)
n.3504G>C
n.3402G>C
n.2815G>C
n.2713G>C
9g.114402911C>TCA374619044WHRNc.911G>A (p.Gly304Glu)
c.2567G>A (p.Gly856Glu)
c.1540G>A
n.2448G>A
c.1418G>A (p.Gly473Glu)
c.1514G>A (p.Gly505Glu)
c.2564G>A (p.Gly855Glu)
c.1904G>A (p.Gly635Glu)
c.2600G>A (p.Gly867Glu)
c.2597G>A (p.Gly866Glu)
c.2474G>A (p.Gly825Glu)
c.2357G>A (p.Gly786Glu)
c.1277G>A (p.Gly426Glu)
n.3504G>A
n.3402G>A
n.2815G>A
n.2713G>A
 gnomAD v4
9g.114402912C>ACA374619045WHRNc.910G>T (p.Gly304Trp)
c.2566G>T (p.Gly856Trp)
c.1539G>T
n.2447G>T
c.1417G>T (p.Gly473Trp)
c.1513G>T (p.Gly505Trp)
c.2563G>T (p.Gly855Trp)
c.1903G>T (p.Gly635Trp)
c.2599G>T (p.Gly867Trp)
c.2596G>T (p.Gly866Trp)
c.2473G>T (p.Gly825Trp)
c.2356G>T (p.Gly786Trp)
c.1276G>T (p.Gly426Trp)
n.3503G>T
n.3401G>T
n.2814G>T
n.2712G>T
 gnomAD v4
9g.114402912C>GCA374619046WHRNc.910G>C (p.Gly304Arg)
c.2566G>C (p.Gly856Arg)
c.1539G>C
n.2447G>C
c.1417G>C (p.Gly473Arg)
c.1513G>C (p.Gly505Arg)
c.2563G>C (p.Gly855Arg)
c.1903G>C (p.Gly635Arg)
c.2599G>C (p.Gly867Arg)
c.2596G>C (p.Gly866Arg)
c.2473G>C (p.Gly825Arg)
c.2356G>C (p.Gly786Arg)
c.1276G>C (p.Gly426Arg)
n.3503G>C
n.3401G>C
n.2814G>C
n.2712G>C
9g.114402912C>TCA374619047WHRNc.910G>A (p.Gly304Arg)
c.2566G>A (p.Gly856Arg)
c.1539G>A
n.2447G>A
c.1417G>A (p.Gly473Arg)
c.1513G>A (p.Gly505Arg)
c.2563G>A (p.Gly855Arg)
c.1903G>A (p.Gly635Arg)
c.2599G>A (p.Gly867Arg)
c.2596G>A (p.Gly866Arg)
c.2473G>A (p.Gly825Arg)
c.2356G>A (p.Gly786Arg)
c.1276G>A (p.Gly426Arg)
n.3503G>A
n.3401G>A
n.2814G>A
n.2712G>A
9g.114402913A=CA1873825387WHRNc.909T= (p.Cys303=)
c.2565T= (p.Cys855=)
c.1538T=
n.2446T=
c.1416T= (p.Cys472=)
c.1512T= (p.Cys504=)
c.2562T= (p.Cys854=)
c.1902T= (p.Cys634=)
c.2598T= (p.Cys866=)
c.2595T= (p.Cys865=)
c.2472T= (p.Cys824=)
c.2355T= (p.Cys785=)
c.1275T= (p.Cys425=)
n.3502T=
n.3400T=
n.2813T=
n.2711T=
9g.114402913A>CCA374619049WHRNc.909T>G (p.Cys303Trp)
c.2565T>G (p.Cys855Trp)
c.1538T>G
n.2446T>G
c.1416T>G (p.Cys472Trp)
c.1512T>G (p.Cys504Trp)
c.2562T>G (p.Cys854Trp)
c.1902T>G (p.Cys634Trp)
c.2598T>G (p.Cys866Trp)
c.2595T>G (p.Cys865Trp)
c.2472T>G (p.Cys824Trp)
c.2355T>G (p.Cys785Trp)
c.1275T>G (p.Cys425Trp)
n.3502T>G
n.3400T>G
n.2813T>G
n.2711T>G
9g.114402913A>GCA5205579WHRNc.909T>C (p.Cys303=)
c.2565T>C (p.Cys855=)
c.1538T>C
n.2446T>C
c.1416T>C (p.Cys472=)
c.1512T>C (p.Cys504=)
c.2562T>C (p.Cys854=)
c.1902T>C (p.Cys634=)
c.2598T>C (p.Cys866=)
c.2595T>C (p.Cys865=)
c.2472T>C (p.Cys824=)
c.2355T>C (p.Cys785=)
c.1275T>C (p.Cys425=)
n.3502T>C
n.3400T>C
n.2813T>C
n.2711T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114402913A>TCA374619048WHRNc.909T>A (p.Cys303Ter)
c.2565T>A (p.Cys855Ter)
c.1538T>A
n.2446T>A
c.1416T>A (p.Cys472Ter)
c.1512T>A (p.Cys504Ter)
c.2562T>A (p.Cys854Ter)
c.1902T>A (p.Cys634Ter)
c.2598T>A (p.Cys866Ter)
c.2595T>A (p.Cys865Ter)
c.2472T>A (p.Cys824Ter)
c.2355T>A (p.Cys785Ter)
c.1275T>A (p.Cys425Ter)
n.3502T>A
n.3400T>A
n.2813T>A
n.2711T>A
9g.114402914C>ACA374619052WHRNc.908G>T (p.Cys303Phe)
c.2564G>T (p.Cys855Phe)
c.1537G>T
n.2445G>T
c.1415G>T (p.Cys472Phe)
c.1511G>T (p.Cys504Phe)
c.2561G>T (p.Cys854Phe)
c.1901G>T (p.Cys634Phe)
c.2597G>T (p.Cys866Phe)
c.2594G>T (p.Cys865Phe)
c.2471G>T (p.Cys824Phe)
c.2354G>T (p.Cys785Phe)
c.1274G>T (p.Cys425Phe)
n.3501G>T
n.3399G>T
n.2812G>T
n.2710G>T
9g.114402914C>GCA374619050WHRNc.908G>C (p.Cys303Ser)
c.2564G>C (p.Cys855Ser)
c.1537G>C
n.2445G>C
c.1415G>C (p.Cys472Ser)
c.1511G>C (p.Cys504Ser)
c.2561G>C (p.Cys854Ser)
c.1901G>C (p.Cys634Ser)
c.2597G>C (p.Cys866Ser)
c.2594G>C (p.Cys865Ser)
c.2471G>C (p.Cys824Ser)
c.2354G>C (p.Cys785Ser)
c.1274G>C (p.Cys425Ser)
n.3501G>C
n.3399G>C
n.2812G>C
n.2710G>C
9g.114402914C>TCA374619051WHRNc.908G>A (p.Cys303Tyr)
c.2564G>A (p.Cys855Tyr)
c.1537G>A
n.2445G>A
c.1415G>A (p.Cys472Tyr)
c.1511G>A (p.Cys504Tyr)
c.2561G>A (p.Cys854Tyr)
c.1901G>A (p.Cys634Tyr)
c.2597G>A (p.Cys866Tyr)
c.2594G>A (p.Cys865Tyr)
c.2471G>A (p.Cys824Tyr)
c.2354G>A (p.Cys785Tyr)
c.1274G>A (p.Cys425Tyr)
n.3501G>A
n.3399G>A
n.2812G>A
n.2710G>A
 gnomAD v4
9g.114402915A>CCA374619053WHRNc.907T>G (p.Cys303Gly)
c.2563T>G (p.Cys855Gly)
c.1536T>G
n.2444T>G
c.1414T>G (p.Cys472Gly)
c.1510T>G (p.Cys504Gly)
c.2560T>G (p.Cys854Gly)
c.1900T>G (p.Cys634Gly)
c.2596T>G (p.Cys866Gly)
c.2593T>G (p.Cys865Gly)
c.2470T>G (p.Cys824Gly)
c.2353T>G (p.Cys785Gly)
c.1273T>G (p.Cys425Gly)
n.3500T>G
n.3398T>G
n.2811T>G
n.2709T>G
9g.114402915A>GCA374619054WHRNc.907T>C (p.Cys303Arg)
c.2563T>C (p.Cys855Arg)
c.1536T>C
n.2444T>C
c.1414T>C (p.Cys472Arg)
c.1510T>C (p.Cys504Arg)
c.2560T>C (p.Cys854Arg)
c.1900T>C (p.Cys634Arg)
c.2596T>C (p.Cys866Arg)
c.2593T>C (p.Cys865Arg)
c.2470T>C (p.Cys824Arg)
c.2353T>C (p.Cys785Arg)
c.1273T>C (p.Cys425Arg)
n.3500T>C
n.3398T>C
n.2811T>C
n.2709T>C
9g.114402915A>TCA374619055WHRNc.907T>A (p.Cys303Ser)
c.2563T>A (p.Cys855Ser)
c.1536T>A
n.2444T>A
c.1414T>A (p.Cys472Ser)
c.1510T>A (p.Cys504Ser)
c.2560T>A (p.Cys854Ser)
c.1900T>A (p.Cys634Ser)
c.2596T>A (p.Cys866Ser)
c.2593T>A (p.Cys865Ser)
c.2470T>A (p.Cys824Ser)
c.2353T>A (p.Cys785Ser)
c.1273T>A (p.Cys425Ser)
n.3500T>A
n.3398T>A
n.2811T>A
n.2709T>A
9g.114402916G>ACA5205580WHRNc.906C>T (p.Asn302=)
c.2562C>T (p.Asn854=)
c.1535C>T
n.2443C>T
c.1413C>T (p.Asn471=)
c.1509C>T (p.Asn503=)
c.2559C>T (p.Asn853=)
c.1899C>T (p.Asn633=)
c.2595C>T (p.Asn865=)
c.2592C>T (p.Asn864=)
c.2469C>T (p.Asn823=)
c.2352C>T (p.Asn784=)
c.1272C>T (p.Asn424=)
n.3499C>T
n.3397C>T
n.2810C>T
n.2708C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114402916G>CCA374619056WHRNc.906C>G (p.Asn302Lys)
c.2562C>G (p.Asn854Lys)
c.1535C>G
n.2443C>G
c.1413C>G (p.Asn471Lys)
c.1509C>G (p.Asn503Lys)
c.2559C>G (p.Asn853Lys)
c.1899C>G (p.Asn633Lys)
c.2595C>G (p.Asn865Lys)
c.2592C>G (p.Asn864Lys)
c.2469C>G (p.Asn823Lys)
c.2352C>G (p.Asn784Lys)
c.1272C>G (p.Asn424Lys)
n.3499C>G
n.3397C>G
n.2810C>G
n.2708C>G
 dbSNP gnomAD v2
9g.114402916G=CA1873825388WHRNc.906C= (p.Asn302=)
c.2562C= (p.Asn854=)
c.1535C=
n.2443C=
c.1413C= (p.Asn471=)
c.1509C= (p.Asn503=)
c.2559C= (p.Asn853=)
c.1899C= (p.Asn633=)
c.2595C= (p.Asn865=)
c.2592C= (p.Asn864=)
c.2469C= (p.Asn823=)
c.2352C= (p.Asn784=)
c.1272C= (p.Asn424=)
n.3499C=
n.3397C=
n.2810C=
n.2708C=
9g.114402916G>TCA374619057WHRNc.906C>A (p.Asn302Lys)
c.2562C>A (p.Asn854Lys)
c.1535C>A
n.2443C>A
c.1413C>A (p.Asn471Lys)
c.1509C>A (p.Asn503Lys)
c.2559C>A (p.Asn853Lys)
c.1899C>A (p.Asn633Lys)
c.2595C>A (p.Asn865Lys)
c.2592C>A (p.Asn864Lys)
c.2469C>A (p.Asn823Lys)
c.2352C>A (p.Asn784Lys)
c.1272C>A (p.Asn424Lys)
n.3499C>A
n.3397C>A
n.2810C>A
n.2708C>A
 ClinVar dbSNP gnomAD v4
9g.114402917T>ACA374619058WHRNc.905A>T (p.Asn302Ile)
c.2561A>T (p.Asn854Ile)
c.1534A>T
n.2442A>T
c.1412A>T (p.Asn471Ile)
c.1508A>T (p.Asn503Ile)
c.2558A>T (p.Asn853Ile)
c.1898A>T (p.Asn633Ile)
c.2594A>T (p.Asn865Ile)
c.2591A>T (p.Asn864Ile)
c.2468A>T (p.Asn823Ile)
c.2351A>T (p.Asn784Ile)
c.1271A>T (p.Asn424Ile)
n.3498A>T
n.3396A>T
n.2809A>T
n.2707A>T
9g.114402917T>CCA374619059WHRNc.905A>G (p.Asn302Ser)
c.2561A>G (p.Asn854Ser)
c.1534A>G
n.2442A>G
c.1412A>G (p.Asn471Ser)
c.1508A>G (p.Asn503Ser)
c.2558A>G (p.Asn853Ser)
c.1898A>G (p.Asn633Ser)
c.2594A>G (p.Asn865Ser)
c.2591A>G (p.Asn864Ser)
c.2468A>G (p.Asn823Ser)
c.2351A>G (p.Asn784Ser)
c.1271A>G (p.Asn424Ser)
n.3498A>G
n.3396A>G
n.2809A>G
n.2707A>G
 dbSNP gnomAD v4
9g.114402917T>GCA374619060WHRNc.905A>C (p.Asn302Thr)
c.2561A>C (p.Asn854Thr)
c.1534A>C
n.2442A>C
c.1412A>C (p.Asn471Thr)
c.1508A>C (p.Asn503Thr)
c.2558A>C (p.Asn853Thr)
c.1898A>C (p.Asn633Thr)
c.2594A>C (p.Asn865Thr)
c.2591A>C (p.Asn864Thr)
c.2468A>C (p.Asn823Thr)
c.2351A>C (p.Asn784Thr)
c.1271A>C (p.Asn424Thr)
n.3498A>C
n.3396A>C
n.2809A>C
n.2707A>C
9g.114402917T=CA1873825389WHRNc.905A= (p.Asn302=)
c.2561A= (p.Asn854=)
c.1534A=
n.2442A=
c.1412A= (p.Asn471=)
c.1508A= (p.Asn503=)
c.2558A= (p.Asn853=)
c.1898A= (p.Asn633=)
c.2594A= (p.Asn865=)
c.2591A= (p.Asn864=)
c.2468A= (p.Asn823=)
c.2351A= (p.Asn784=)
c.1271A= (p.Asn424=)
n.3498A=
n.3396A=
n.2809A=
n.2707A=
9g.114402918T>ACA374619061WHRNc.904A>T (p.Asn302Tyr)
c.2560A>T (p.Asn854Tyr)
c.1533A>T
n.2441A>T
c.1411A>T (p.Asn471Tyr)
c.1507A>T (p.Asn503Tyr)
c.2557A>T (p.Asn853Tyr)
c.1897A>T (p.Asn633Tyr)
c.2593A>T (p.Asn865Tyr)
c.2590A>T (p.Asn864Tyr)
c.2467A>T (p.Asn823Tyr)
c.2350A>T (p.Asn784Tyr)
c.1270A>T (p.Asn424Tyr)
n.3497A>T
n.3395A>T
n.2808A>T
n.2706A>T
9g.114402918T>CCA374619062WHRNc.904A>G (p.Asn302Asp)
c.2560A>G (p.Asn854Asp)
c.1533A>G
n.2441A>G
c.1411A>G (p.Asn471Asp)
c.1507A>G (p.Asn503Asp)
c.2557A>G (p.Asn853Asp)
c.1897A>G (p.Asn633Asp)
c.2593A>G (p.Asn865Asp)
c.2590A>G (p.Asn864Asp)
c.2467A>G (p.Asn823Asp)
c.2350A>G (p.Asn784Asp)
c.1270A>G (p.Asn424Asp)
n.3497A>G
n.3395A>G
n.2808A>G
n.2706A>G
9g.114402918T>GCA374619063WHRNc.904A>C (p.Asn302His)
c.2560A>C (p.Asn854His)
c.1533A>C
n.2441A>C
c.1411A>C (p.Asn471His)
c.1507A>C (p.Asn503His)
c.2557A>C (p.Asn853His)
c.1897A>C (p.Asn633His)
c.2593A>C (p.Asn865His)
c.2590A>C (p.Asn864His)
c.2467A>C (p.Asn823His)
c.2350A>C (p.Asn784His)
c.1270A>C (p.Asn424His)
n.3497A>C
n.3395A>C
n.2808A>C
n.2706A>C
9g.114402919G>ACA466911031WHRNc.903C>T (p.His301=)
c.2559C>T (p.His853=)
c.1532C>T
n.2440C>T
c.1410C>T (p.His470=)
c.1506C>T (p.His502=)
c.2556C>T (p.His852=)
c.1896C>T (p.His632=)
c.2592C>T (p.His864=)
c.2589C>T (p.His863=)
c.2466C>T (p.His822=)
c.2349C>T (p.His783=)
c.1269C>T (p.His423=)
n.3496C>T
n.3394C>T
n.2807C>T
n.2705C>T
9g.114402919G>CCA374619064WHRNc.903C>G (p.His301Gln)
c.2559C>G (p.His853Gln)
c.1532C>G
n.2440C>G
c.1410C>G (p.His470Gln)
c.1506C>G (p.His502Gln)
c.2556C>G (p.His852Gln)
c.1896C>G (p.His632Gln)
c.2592C>G (p.His864Gln)
c.2589C>G (p.His863Gln)
c.2466C>G (p.His822Gln)
c.2349C>G (p.His783Gln)
c.1269C>G (p.His423Gln)
n.3496C>G
n.3394C>G
n.2807C>G
n.2705C>G
9g.114402919G>TCA374619065WHRNc.903C>A (p.His301Gln)
c.2559C>A (p.His853Gln)
c.1532C>A
n.2440C>A
c.1410C>A (p.His470Gln)
c.1506C>A (p.His502Gln)
c.2556C>A (p.His852Gln)
c.1896C>A (p.His632Gln)
c.2592C>A (p.His864Gln)
c.2589C>A (p.His863Gln)
c.2466C>A (p.His822Gln)
c.2349C>A (p.His783Gln)
c.1269C>A (p.His423Gln)
n.3496C>A
n.3394C>A
n.2807C>A
n.2705C>A
 gnomAD v4
9g.114402920T>ACA374619066WHRNc.902A>T (p.His301Leu)
c.2558A>T (p.His853Leu)
c.1531A>T
n.2439A>T
c.1409A>T (p.His470Leu)
c.1505A>T (p.His502Leu)
c.2555A>T (p.His852Leu)
c.1895A>T (p.His632Leu)
c.2591A>T (p.His864Leu)
c.2588A>T (p.His863Leu)
c.2465A>T (p.His822Leu)
c.2348A>T (p.His783Leu)
c.1268A>T (p.His423Leu)
n.3495A>T
n.3393A>T
n.2806A>T
n.2704A>T
9g.114402920T>CCA374619067WHRNc.902A>G (p.His301Arg)
c.2558A>G (p.His853Arg)
c.1531A>G
n.2439A>G
c.1409A>G (p.His470Arg)
c.1505A>G (p.His502Arg)
c.2555A>G (p.His852Arg)
c.1895A>G (p.His632Arg)
c.2591A>G (p.His864Arg)
c.2588A>G (p.His863Arg)
c.2465A>G (p.His822Arg)
c.2348A>G (p.His783Arg)
c.1268A>G (p.His423Arg)
n.3495A>G
n.3393A>G
n.2806A>G
n.2704A>G
 dbSNP gnomAD v2 gnomAD v4
9g.114402920T>GCA374619068WHRNc.902A>C (p.His301Pro)
c.2558A>C (p.His853Pro)
c.1531A>C
n.2439A>C
c.1409A>C (p.His470Pro)
c.1505A>C (p.His502Pro)
c.2555A>C (p.His852Pro)
c.1895A>C (p.His632Pro)
c.2591A>C (p.His864Pro)
c.2588A>C (p.His863Pro)
c.2465A>C (p.His822Pro)
c.2348A>C (p.His783Pro)
c.1268A>C (p.His423Pro)
n.3495A>C
n.3393A>C
n.2806A>C
n.2704A>C
9g.114402920T=CA1873825390WHRNc.902A= (p.His301=)
c.2558A= (p.His853=)
c.1531A=
n.2439A=
c.1409A= (p.His470=)
c.1505A= (p.His502=)
c.2555A= (p.His852=)
c.1895A= (p.His632=)
c.2591A= (p.His864=)
c.2588A= (p.His863=)
c.2465A= (p.His822=)
c.2348A= (p.His783=)
c.1268A= (p.His423=)
n.3495A=
n.3393A=
n.2806A=
n.2704A=
9g.114402921G>ACA374619069WHRNc.901C>T (p.His301Tyr)
c.2557C>T (p.His853Tyr)
c.1530C>T
n.2438C>T
c.1408C>T (p.His470Tyr)
c.1504C>T (p.His502Tyr)
c.2554C>T (p.His852Tyr)
c.1894C>T (p.His632Tyr)
c.2590C>T (p.His864Tyr)
c.2587C>T (p.His863Tyr)
c.2464C>T (p.His822Tyr)
c.2347C>T (p.His783Tyr)
c.1267C>T (p.His423Tyr)
n.3494C>T
n.3392C>T
n.2805C>T
n.2703C>T
9g.114402921G>CCA374619070WHRNc.901C>G (p.His301Asp)
c.2557C>G (p.His853Asp)
c.1530C>G
n.2438C>G
c.1408C>G (p.His470Asp)
c.1504C>G (p.His502Asp)
c.2554C>G (p.His852Asp)
c.1894C>G (p.His632Asp)
c.2590C>G (p.His864Asp)
c.2587C>G (p.His863Asp)
c.2464C>G (p.His822Asp)
c.2347C>G (p.His783Asp)
c.1267C>G (p.His423Asp)
n.3494C>G
n.3392C>G
n.2805C>G
n.2703C>G
9g.114402921G>TCA374619071WHRNc.901C>A (p.His301Asn)
c.2557C>A (p.His853Asn)
c.1530C>A
n.2438C>A
c.1408C>A (p.His470Asn)
c.1504C>A (p.His502Asn)
c.2554C>A (p.His852Asn)
c.1894C>A (p.His632Asn)
c.2590C>A (p.His864Asn)
c.2587C>A (p.His863Asn)
c.2464C>A (p.His822Asn)
c.2347C>A (p.His783Asn)
c.1267C>A (p.His423Asn)
n.3494C>A
n.3392C>A
n.2805C>A
n.2703C>A
9g.114402922A>CCA466911043WHRNc.900T>G (p.Ala300=)
c.2556T>G (p.Ala852=)
c.1529T>G
n.2437T>G
c.1407T>G (p.Ala469=)
c.1503T>G (p.Ala501=)
c.2553T>G (p.Ala851=)
c.1893T>G (p.Ala631=)
c.2589T>G (p.Ala863=)
c.2586T>G (p.Ala862=)
c.2463T>G (p.Ala821=)
c.2346T>G (p.Ala782=)
c.1266T>G (p.Ala422=)
n.3493T>G
n.3391T>G
n.2804T>G
n.2702T>G
9g.114402922A>GCA466911045WHRNc.900T>C (p.Ala300=)
c.2556T>C (p.Ala852=)
c.1529T>C
n.2437T>C
c.1407T>C (p.Ala469=)
c.1503T>C (p.Ala501=)
c.2553T>C (p.Ala851=)
c.1893T>C (p.Ala631=)
c.2589T>C (p.Ala863=)
c.2586T>C (p.Ala862=)
c.2463T>C (p.Ala821=)
c.2346T>C (p.Ala782=)
c.1266T>C (p.Ala422=)
n.3493T>C
n.3391T>C
n.2804T>C
n.2702T>C
 ClinVar dbSNP
9g.114402922A>TCA466911044WHRNc.900T>A (p.Ala300=)
c.2556T>A (p.Ala852=)
c.1529T>A
n.2437T>A
c.1407T>A (p.Ala469=)
c.1503T>A (p.Ala501=)
c.2553T>A (p.Ala851=)
c.1893T>A (p.Ala631=)
c.2589T>A (p.Ala863=)
c.2586T>A (p.Ala862=)
c.2463T>A (p.Ala821=)
c.2346T>A (p.Ala782=)
c.1266T>A (p.Ala422=)
n.3493T>A
n.3391T>A
n.2804T>A
n.2702T>A
9g.114402923G>ACA374619072WHRNc.899C>T (p.Ala300Val)
c.2555C>T (p.Ala852Val)
c.1528C>T
n.2436C>T
c.1406C>T (p.Ala469Val)
c.1502C>T (p.Ala501Val)
c.2552C>T (p.Ala851Val)
c.1892C>T (p.Ala631Val)
c.2588C>T (p.Ala863Val)
c.2585C>T (p.Ala862Val)
c.2462C>T (p.Ala821Val)
c.2345C>T (p.Ala782Val)
c.1265C>T (p.Ala422Val)
n.3492C>T
n.3390C>T
n.2803C>T
n.2701C>T
 gnomAD v4
9g.114402923G>CCA374619073WHRNc.899C>G (p.Ala300Gly)
c.2555C>G (p.Ala852Gly)
c.1528C>G
n.2436C>G
c.1406C>G (p.Ala469Gly)
c.1502C>G (p.Ala501Gly)
c.2552C>G (p.Ala851Gly)
c.1892C>G (p.Ala631Gly)
c.2588C>G (p.Ala863Gly)
c.2585C>G (p.Ala862Gly)
c.2462C>G (p.Ala821Gly)
c.2345C>G (p.Ala782Gly)
c.1265C>G (p.Ala422Gly)
n.3492C>G
n.3390C>G
n.2803C>G
n.2701C>G
9g.114402923G=CA1873825391WHRNc.899C= (p.Ala300=)
c.2555C= (p.Ala852=)
c.1528C=
n.2436C=
c.1406C= (p.Ala469=)
c.1502C= (p.Ala501=)
c.2552C= (p.Ala851=)
c.1892C= (p.Ala631=)
c.2588C= (p.Ala863=)
c.2585C= (p.Ala862=)
c.2462C= (p.Ala821=)
c.2345C= (p.Ala782=)
c.1265C= (p.Ala422=)
n.3492C=
n.3390C=
n.2803C=
n.2701C=
9g.114402923G>TCA374619074WHRNc.899C>A (p.Ala300Asp)
c.2555C>A (p.Ala852Asp)
c.1528C>A
n.2436C>A
c.1406C>A (p.Ala469Asp)
c.1502C>A (p.Ala501Asp)
c.2552C>A (p.Ala851Asp)
c.1892C>A (p.Ala631Asp)
c.2588C>A (p.Ala863Asp)
c.2585C>A (p.Ala862Asp)
c.2462C>A (p.Ala821Asp)
c.2345C>A (p.Ala782Asp)
c.1265C>A (p.Ala422Asp)
n.3492C>A
n.3390C>A
n.2803C>A
n.2701C>A
 dbSNP gnomAD v2 gnomAD v4
9g.114402924C>ACA374619075WHRNc.898G>T (p.Ala300Ser)
c.2554G>T (p.Ala852Ser)
c.1527G>T
n.2435G>T
c.1405G>T (p.Ala469Ser)
c.1501G>T (p.Ala501Ser)
c.2551G>T (p.Ala851Ser)
c.1891G>T (p.Ala631Ser)
c.2587G>T (p.Ala863Ser)
c.2584G>T (p.Ala862Ser)
c.2461G>T (p.Ala821Ser)
c.2344G>T (p.Ala782Ser)
c.1264G>T (p.Ala422Ser)
n.3491G>T
n.3389G>T
n.2802G>T
n.2700G>T
9g.114402924C=CA1873825392WHRNc.898G= (p.Ala300=)
c.2554G= (p.Ala852=)
c.1527G=
n.2435G=
c.1405G= (p.Ala469=)
c.1501G= (p.Ala501=)
c.2551G= (p.Ala851=)
c.1891G= (p.Ala631=)
c.2587G= (p.Ala863=)
c.2584G= (p.Ala862=)
c.2461G= (p.Ala821=)
c.2344G= (p.Ala782=)
c.1264G= (p.Ala422=)
n.3491G=
n.3389G=
n.2802G=
n.2700G=
9g.114402924C>GCA374619076WHRNc.898G>C (p.Ala300Pro)
c.2554G>C (p.Ala852Pro)
c.1527G>C
n.2435G>C
c.1405G>C (p.Ala469Pro)
c.1501G>C (p.Ala501Pro)
c.2551G>C (p.Ala851Pro)
c.1891G>C (p.Ala631Pro)
c.2587G>C (p.Ala863Pro)
c.2584G>C (p.Ala862Pro)
c.2461G>C (p.Ala821Pro)
c.2344G>C (p.Ala782Pro)
c.1264G>C (p.Ala422Pro)
n.3491G>C
n.3389G>C
n.2802G>C
n.2700G>C
 gnomAD v4
9g.114402924C>TCA5205581WHRNc.898G>A (p.Ala300Thr)
c.2554G>A (p.Ala852Thr)
c.1527G>A
n.2435G>A
c.1405G>A (p.Ala469Thr)
c.1501G>A (p.Ala501Thr)
c.2551G>A (p.Ala851Thr)
c.1891G>A (p.Ala631Thr)
c.2587G>A (p.Ala863Thr)
c.2584G>A (p.Ala862Thr)
c.2461G>A (p.Ala821Thr)
c.2344G>A (p.Ala782Thr)
c.1264G>A (p.Ala422Thr)
n.3491G>A
n.3389G>A
n.2802G>A
n.2700G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114402925T>ACA466911063WHRNc.897A>T (p.Ser299=)
c.2553A>T (p.Ser851=)
c.1526A>T
n.2434A>T
c.1404A>T (p.Ser468=)
c.1500A>T (p.Ser500=)
c.2550A>T (p.Ser850=)
c.1890A>T (p.Ser630=)
c.2586A>T (p.Ser862=)
c.2583A>T (p.Ser861=)
c.2460A>T (p.Ser820=)
c.2343A>T (p.Ser781=)
c.1263A>T (p.Ser421=)
n.3490A>T
n.3388A>T
n.2801A>T
n.2699A>T
9g.114402925T>CCA466911066WHRNc.897A>G (p.Ser299=)
c.2553A>G (p.Ser851=)
c.1526A>G
n.2434A>G
c.1404A>G (p.Ser468=)
c.1500A>G (p.Ser500=)
c.2550A>G (p.Ser850=)
c.1890A>G (p.Ser630=)
c.2586A>G (p.Ser862=)
c.2583A>G (p.Ser861=)
c.2460A>G (p.Ser820=)
c.2343A>G (p.Ser781=)
c.1263A>G (p.Ser421=)
n.3490A>G
n.3388A>G
n.2801A>G
n.2699A>G
9g.114402925T>GCA466911067WHRNc.897A>C (p.Ser299=)
c.2553A>C (p.Ser851=)
c.1526A>C
n.2434A>C
c.1404A>C (p.Ser468=)
c.1500A>C (p.Ser500=)
c.2550A>C (p.Ser850=)
c.1890A>C (p.Ser630=)
c.2586A>C (p.Ser862=)
c.2583A>C (p.Ser861=)
c.2460A>C (p.Ser820=)
c.2343A>C (p.Ser781=)
c.1263A>C (p.Ser421=)
n.3490A>C
n.3388A>C
n.2801A>C
n.2699A>C
9g.114402926G>ACA374619079WHRNc.896C>T (p.Ser299Leu)
c.2552C>T (p.Ser851Leu)
c.1525C>T
n.2433C>T
c.1403C>T (p.Ser468Leu)
c.1499C>T (p.Ser500Leu)
c.2549C>T (p.Ser850Leu)
c.1889C>T (p.Ser630Leu)
c.2585C>T (p.Ser862Leu)
c.2582C>T (p.Ser861Leu)
c.2459C>T (p.Ser820Leu)
c.2342C>T (p.Ser781Leu)
c.1262C>T (p.Ser421Leu)
n.3489C>T
n.3387C>T
n.2800C>T
n.2698C>T
 gnomAD v4
9g.114402926G>CCA374619078WHRNc.896C>G (p.Ser299Ter)
c.2552C>G (p.Ser851Ter)
c.1525C>G
n.2433C>G
c.1403C>G (p.Ser468Ter)
c.1499C>G (p.Ser500Ter)
c.2549C>G (p.Ser850Ter)
c.1889C>G (p.Ser630Ter)
c.2585C>G (p.Ser862Ter)
c.2582C>G (p.Ser861Ter)
c.2459C>G (p.Ser820Ter)
c.2342C>G (p.Ser781Ter)
c.1262C>G (p.Ser421Ter)
n.3489C>G
n.3387C>G
n.2800C>G
n.2698C>G
9g.114402926G>TCA374619077WHRNc.896C>A (p.Ser299Ter)
c.2552C>A (p.Ser851Ter)
c.1525C>A
n.2433C>A
c.1403C>A (p.Ser468Ter)
c.1499C>A (p.Ser500Ter)
c.2549C>A (p.Ser850Ter)
c.1889C>A (p.Ser630Ter)
c.2585C>A (p.Ser862Ter)
c.2582C>A (p.Ser861Ter)
c.2459C>A (p.Ser820Ter)
c.2342C>A (p.Ser781Ter)
c.1262C>A (p.Ser421Ter)
n.3489C>A
n.3387C>A
n.2800C>A
n.2698C>A
9g.114402927A>CCA374619080WHRNc.895T>G (p.Ser299Ala)
c.2551T>G (p.Ser851Ala)
c.1524T>G
n.2432T>G
c.1402T>G (p.Ser468Ala)
c.1498T>G (p.Ser500Ala)
c.2548T>G (p.Ser850Ala)
c.1888T>G (p.Ser630Ala)
c.2584T>G (p.Ser862Ala)
c.2581T>G (p.Ser861Ala)
c.2458T>G (p.Ser820Ala)
c.2341T>G (p.Ser781Ala)
c.1261T>G (p.Ser421Ala)
n.3488T>G
n.3386T>G
n.2799T>G
n.2697T>G
 gnomAD v4
9g.114402927A>GCA374619082WHRNc.895T>C (p.Ser299Pro)
c.2551T>C (p.Ser851Pro)
c.1524T>C
n.2432T>C
c.1402T>C (p.Ser468Pro)
c.1498T>C (p.Ser500Pro)
c.2548T>C (p.Ser850Pro)
c.1888T>C (p.Ser630Pro)
c.2584T>C (p.Ser862Pro)
c.2581T>C (p.Ser861Pro)
c.2458T>C (p.Ser820Pro)
c.2341T>C (p.Ser781Pro)
c.1261T>C (p.Ser421Pro)
n.3488T>C
n.3386T>C
n.2799T>C
n.2697T>C
9g.114402927A>TCA374619081WHRNc.895T>A (p.Ser299Thr)
c.2551T>A (p.Ser851Thr)
c.1524T>A
n.2432T>A
c.1402T>A (p.Ser468Thr)
c.1498T>A (p.Ser500Thr)
c.2548T>A (p.Ser850Thr)
c.1888T>A (p.Ser630Thr)
c.2584T>A (p.Ser862Thr)
c.2581T>A (p.Ser861Thr)
c.2458T>A (p.Ser820Thr)
c.2341T>A (p.Ser781Thr)
c.1261T>A (p.Ser421Thr)
n.3488T>A
n.3386T>A
n.2799T>A
n.2697T>A
9g.114402927dupCA2785655487WHRNc.895dup (p.Ser299PhefsTer?)
c.2551dup (p.Ser851PhefsTer?)
c.1524dup
n.2432dup
c.1402dup (p.Ser468PhefsTer?)
c.1498dup (p.Ser500PhefsTer?)
c.2548dup (p.Ser850PhefsTer?)
c.1888dup (p.Ser630PhefsTer?)
c.2584dup (p.Ser862PhefsTer?)
c.2581dup (p.Ser861PhefsTer?)
c.2458dup (p.Ser820PhefsTer?)
c.2341dup (p.Ser781PhefsTer?)
c.1261dup (p.Ser421PhefsTer?)
n.3488dup
n.3386dup
n.2799dup
n.2697dup
9g.114402928G>ACA466911082WHRNc.894C>T (p.Gly298=)
c.2550C>T (p.Gly850=)
c.1523C>T
n.2431C>T
c.1401C>T (p.Gly467=)
c.1497C>T (p.Gly499=)
c.2547C>T (p.Gly849=)
c.1887C>T (p.Gly629=)
c.2583C>T (p.Gly861=)
c.2580C>T (p.Gly860=)
c.2457C>T (p.Gly819=)
c.2340C>T (p.Gly780=)
c.1260C>T (p.Gly420=)
n.3487C>T
n.3385C>T
n.2798C>T
n.2696C>T
9g.114402928G>CCA466911083WHRNc.894C>G (p.Gly298=)
c.2550C>G (p.Gly850=)
c.1523C>G
n.2431C>G
c.1401C>G (p.Gly467=)
c.1497C>G (p.Gly499=)
c.2547C>G (p.Gly849=)
c.1887C>G (p.Gly629=)
c.2583C>G (p.Gly861=)
c.2580C>G (p.Gly860=)
c.2457C>G (p.Gly819=)
c.2340C>G (p.Gly780=)
c.1260C>G (p.Gly420=)
n.3487C>G
n.3385C>G
n.2798C>G
n.2696C>G
 dbSNP
9g.114402928G>TCA466911084WHRNc.894C>A (p.Gly298=)
c.2550C>A (p.Gly850=)
c.1523C>A
n.2431C>A
c.1401C>A (p.Gly467=)
c.1497C>A (p.Gly499=)
c.2547C>A (p.Gly849=)
c.1887C>A (p.Gly629=)
c.2583C>A (p.Gly861=)
c.2580C>A (p.Gly860=)
c.2457C>A (p.Gly819=)
c.2340C>A (p.Gly780=)
c.1260C>A (p.Gly420=)
n.3487C>A
n.3385C>A
n.2798C>A
n.2696C>A
 gnomAD v4
9g.114402929C>ACA374619083WHRNc.893G>T (p.Gly298Val)
c.2549G>T (p.Gly850Val)
c.1522G>T
n.2430G>T
c.1400G>T (p.Gly467Val)
c.1496G>T (p.Gly499Val)
c.2546G>T (p.Gly849Val)
c.1886G>T (p.Gly629Val)
c.2582G>T (p.Gly861Val)
c.2579G>T (p.Gly860Val)
c.2456G>T (p.Gly819Val)
c.2339G>T (p.Gly780Val)
c.1259G>T (p.Gly420Val)
n.3486G>T
n.3384G>T
n.2797G>T
n.2695G>T
 gnomAD v4
9g.114402929C>GCA374619084WHRNc.893G>C (p.Gly298Ala)
c.2549G>C (p.Gly850Ala)
c.1522G>C
n.2430G>C
c.1400G>C (p.Gly467Ala)
c.1496G>C (p.Gly499Ala)
c.2546G>C (p.Gly849Ala)
c.1886G>C (p.Gly629Ala)
c.2582G>C (p.Gly861Ala)
c.2579G>C (p.Gly860Ala)
c.2456G>C (p.Gly819Ala)
c.2339G>C (p.Gly780Ala)
c.1259G>C (p.Gly420Ala)
n.3486G>C
n.3384G>C
n.2797G>C
n.2695G>C
9g.114402929C>TCA374619085WHRNc.893G>A (p.Gly298Asp)
c.2549G>A (p.Gly850Asp)
c.1522G>A
n.2430G>A
c.1400G>A (p.Gly467Asp)
c.1496G>A (p.Gly499Asp)
c.2546G>A (p.Gly849Asp)
c.1886G>A (p.Gly629Asp)
c.2582G>A (p.Gly861Asp)
c.2579G>A (p.Gly860Asp)
c.2456G>A (p.Gly819Asp)
c.2339G>A (p.Gly780Asp)
c.1259G>A (p.Gly420Asp)
n.3486G>A
n.3384G>A
n.2797G>A
n.2695G>A
 gnomAD v4
9g.114402930C>ACA374619086WHRNc.892G>T (p.Gly298Cys)
c.2548G>T (p.Gly850Cys)
c.1521G>T
n.2429G>T
c.1399G>T (p.Gly467Cys)
c.1495G>T (p.Gly499Cys)
c.2545G>T (p.Gly849Cys)
c.1885G>T (p.Gly629Cys)
c.2581G>T (p.Gly861Cys)
c.2578G>T (p.Gly860Cys)
c.2455G>T (p.Gly819Cys)
c.2338G>T (p.Gly780Cys)
c.1258G>T (p.Gly420Cys)
n.3485G>T
n.3383G>T
n.2796G>T
n.2694G>T
9g.114402930C=CA1873825393WHRNc.892G= (p.Gly298=)
c.2548G= (p.Gly850=)
c.1521G=
n.2429G=
c.1399G= (p.Gly467=)
c.1495G= (p.Gly499=)
c.2545G= (p.Gly849=)
c.1885G= (p.Gly629=)
c.2581G= (p.Gly861=)
c.2578G= (p.Gly860=)
c.2455G= (p.Gly819=)
c.2338G= (p.Gly780=)
c.1258G= (p.Gly420=)
n.3485G=
n.3383G=
n.2796G=
n.2694G=
9g.114402930C>GCA374619087WHRNc.892G>C (p.Gly298Arg)
c.2548G>C (p.Gly850Arg)
c.1521G>C
n.2429G>C
c.1399G>C (p.Gly467Arg)
c.1495G>C (p.Gly499Arg)
c.2545G>C (p.Gly849Arg)
c.1885G>C (p.Gly629Arg)
c.2581G>C (p.Gly861Arg)
c.2578G>C (p.Gly860Arg)
c.2455G>C (p.Gly819Arg)
c.2338G>C (p.Gly780Arg)
c.1258G>C (p.Gly420Arg)
n.3485G>C
n.3383G>C
n.2796G>C
n.2694G>C
9g.114402930C>TCA5205582WHRNc.892G>A (p.Gly298Ser)
c.2548G>A (p.Gly850Ser)
c.1521G>A
n.2429G>A
c.1399G>A (p.Gly467Ser)
c.1495G>A (p.Gly499Ser)
c.2545G>A (p.Gly849Ser)
c.1885G>A (p.Gly629Ser)
c.2581G>A (p.Gly861Ser)
c.2578G>A (p.Gly860Ser)
c.2455G>A (p.Gly819Ser)
c.2338G>A (p.Gly780Ser)
c.1258G>A (p.Gly420Ser)
n.3485G>A
n.3383G>A
n.2796G>A
n.2694G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114402930_114402931insACACA2785655493WHRNc.891_892insTGT (p.Gly297_Gly298insCys)
c.2547_2548insTGT (p.Gly849_Gly850insCys)
c.1520_1521insTGT
n.2428_2429insTGT
c.1398_1399insTGT (p.Gly466_Gly467insCys)
c.1494_1495insTGT (p.Gly498_Gly499insCys)
c.2544_2545insTGT (p.Gly848_Gly849insCys)
c.1884_1885insTGT (p.Gly628_Gly629insCys)
c.2580_2581insTGT (p.Gly860_Gly861insCys)
c.2577_2578insTGT (p.Gly859_Gly860insCys)
c.2454_2455insTGT (p.Gly818_Gly819insCys)
c.2337_2338insTGT (p.Gly779_Gly780insCys)
c.1257_1258insTGT (p.Gly419_Gly420insCys)
n.3484_3485insTGT
n.3382_3383insTGT
n.2795_2796insTGT
n.2693_2694insTGT
9g.114402931G>ACA5205583WHRNc.891C>T (p.Gly297=)
c.2547C>T (p.Gly849=)
c.1520C>T
n.2428C>T
c.1398C>T (p.Gly466=)
c.1494C>T (p.Gly498=)
c.2544C>T (p.Gly848=)
c.1884C>T (p.Gly628=)
c.2580C>T (p.Gly860=)
c.2577C>T (p.Gly859=)
c.2454C>T (p.Gly818=)
c.2337C>T (p.Gly779=)
c.1257C>T (p.Gly419=)
n.3484C>T
n.3382C>T
n.2795C>T
n.2693C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
9g.114402931G>CCA466911095WHRNc.891C>G (p.Gly297=)
c.2547C>G (p.Gly849=)
c.1520C>G
n.2428C>G
c.1398C>G (p.Gly466=)
c.1494C>G (p.Gly498=)
c.2544C>G (p.Gly848=)
c.1884C>G (p.Gly628=)
c.2580C>G (p.Gly860=)
c.2577C>G (p.Gly859=)
c.2454C>G (p.Gly818=)
c.2337C>G (p.Gly779=)
c.1257C>G (p.Gly419=)
n.3484C>G
n.3382C>G
n.2795C>G
n.2693C>G
9g.114402931G=CA1873825394WHRNc.891C= (p.Gly297=)
c.2547C= (p.Gly849=)
c.1520C=
n.2428C=
c.1398C= (p.Gly466=)
c.1494C= (p.Gly498=)
c.2544C= (p.Gly848=)
c.1884C= (p.Gly628=)
c.2580C= (p.Gly860=)
c.2577C= (p.Gly859=)
c.2454C= (p.Gly818=)
c.2337C= (p.Gly779=)
c.1257C= (p.Gly419=)
n.3484C=
n.3382C=
n.2795C=
n.2693C=
9g.114402931G>TCA466911099WHRNc.891C>A (p.Gly297=)
c.2547C>A (p.Gly849=)
c.1520C>A
n.2428C>A
c.1398C>A (p.Gly466=)
c.1494C>A (p.Gly498=)
c.2544C>A (p.Gly848=)
c.1884C>A (p.Gly628=)
c.2580C>A (p.Gly860=)
c.2577C>A (p.Gly859=)
c.2454C>A (p.Gly818=)
c.2337C>A (p.Gly779=)
c.1257C>A (p.Gly419=)
n.3484C>A
n.3382C>A
n.2795C>A
n.2693C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.114402932C>ACA374619088WHRNc.890G>T (p.Gly297Val)
c.2546G>T (p.Gly849Val)
c.1519G>T
n.2427G>T
c.1397G>T (p.Gly466Val)
c.1493G>T (p.Gly498Val)
c.2543G>T (p.Gly848Val)
c.1883G>T (p.Gly628Val)
c.2579G>T (p.Gly860Val)
c.2576G>T (p.Gly859Val)
c.2453G>T (p.Gly818Val)
c.2336G>T (p.Gly779Val)
c.1256G>T (p.Gly419Val)
n.3483G>T
n.3381G>T
n.2794G>T
n.2692G>T
 gnomAD v4
9g.114402932C>GCA374619089WHRNc.890G>C (p.Gly297Ala)
c.2546G>C (p.Gly849Ala)
c.1519G>C
n.2427G>C
c.1397G>C (p.Gly466Ala)
c.1493G>C (p.Gly498Ala)
c.2543G>C (p.Gly848Ala)
c.1883G>C (p.Gly628Ala)
c.2579G>C (p.Gly860Ala)
c.2576G>C (p.Gly859Ala)
c.2453G>C (p.Gly818Ala)
c.2336G>C (p.Gly779Ala)
c.1256G>C (p.Gly419Ala)
n.3483G>C
n.3381G>C
n.2794G>C
n.2692G>C
9g.114402932C>TCA374619090WHRNc.890G>A (p.Gly297Asp)
c.2546G>A (p.Gly849Asp)
c.1519G>A
n.2427G>A
c.1397G>A (p.Gly466Asp)
c.1493G>A (p.Gly498Asp)
c.2543G>A (p.Gly848Asp)
c.1883G>A (p.Gly628Asp)
c.2579G>A (p.Gly860Asp)
c.2576G>A (p.Gly859Asp)
c.2453G>A (p.Gly818Asp)
c.2336G>A (p.Gly779Asp)
c.1256G>A (p.Gly419Asp)
n.3483G>A
n.3381G>A
n.2794G>A
n.2692G>A
9g.114402933C>ACA374619091WHRNc.889G>T (p.Gly297Cys)
c.2545G>T (p.Gly849Cys)
c.1518G>T
n.2426G>T
c.1396G>T (p.Gly466Cys)
c.1492G>T (p.Gly498Cys)
c.2542G>T (p.Gly848Cys)
c.1882G>T (p.Gly628Cys)
c.2578G>T (p.Gly860Cys)
c.2575G>T (p.Gly859Cys)
c.2452G>T (p.Gly818Cys)
c.2335G>T (p.Gly779Cys)
c.1255G>T (p.Gly419Cys)
n.3482G>T
n.3380G>T
n.2793G>T
n.2691G>T
9g.114402933C=CA1873825395WHRNc.889G= (p.Gly297=)
c.2545G= (p.Gly849=)
c.1518G=
n.2426G=
c.1396G= (p.Gly466=)
c.1492G= (p.Gly498=)
c.2542G= (p.Gly848=)
c.1882G= (p.Gly628=)
c.2578G= (p.Gly860=)
c.2575G= (p.Gly859=)
c.2452G= (p.Gly818=)
c.2335G= (p.Gly779=)
c.1255G= (p.Gly419=)
n.3482G=
n.3380G=
n.2793G=
n.2691G=
9g.114402933C>GCA374619092WHRNc.889G>C (p.Gly297Arg)
c.2545G>C (p.Gly849Arg)
c.1518G>C
n.2426G>C
c.1396G>C (p.Gly466Arg)
c.1492G>C (p.Gly498Arg)
c.2542G>C (p.Gly848Arg)
c.1882G>C (p.Gly628Arg)
c.2578G>C (p.Gly860Arg)
c.2575G>C (p.Gly859Arg)
c.2452G>C (p.Gly818Arg)
c.2335G>C (p.Gly779Arg)
c.1255G>C (p.Gly419Arg)
n.3482G>C
n.3380G>C
n.2793G>C
n.2691G>C
9g.114402933C>TCA198648803WHRNc.889G>A (p.Gly297Ser)
c.2545G>A (p.Gly849Ser)
c.1518G>A
n.2426G>A
c.1396G>A (p.Gly466Ser)
c.1492G>A (p.Gly498Ser)
c.2542G>A (p.Gly848Ser)
c.1882G>A (p.Gly628Ser)
c.2578G>A (p.Gly860Ser)
c.2575G>A (p.Gly859Ser)
c.2452G>A (p.Gly818Ser)
c.2335G>A (p.Gly779Ser)
c.1255G>A (p.Gly419Ser)
n.3482G>A
n.3380G>A
n.2793G>A
n.2691G>A
 dbSNP
9g.114402937_114402938delCA2691371814WHRNc.888_889del
c.2544_2545del
c.1517_1518del
n.2425_2426del
c.1395_1396del
c.1491_1492del
c.2541_2542del
c.1881_1882del
c.2577_2578del
c.2574_2575del
c.2451_2452del
c.2334_2335del
c.1254_1255del
n.3481_3482del
n.3379_3380del
n.2792_2793del
n.2690_2691del
 gnomAD v4
9g.114402934T>ACA374619093WHRNc.888A>T (p.Arg296Ser)
c.2544A>T (p.Arg848Ser)
c.1517A>T
n.2425A>T
c.1395A>T (p.Arg465Ser)
c.1491A>T (p.Arg497Ser)
c.2541A>T (p.Arg847Ser)
c.1881A>T (p.Arg627Ser)
c.2577A>T (p.Arg859Ser)
c.2574A>T (p.Arg858Ser)
c.2451A>T (p.Arg817Ser)
c.2334A>T (p.Arg778Ser)
c.1254A>T (p.Arg418Ser)
n.3481A>T
n.3379A>T
n.2792A>T
n.2690A>T
9g.114402934T>CCA466911103WHRNc.888A>G (p.Arg296=)
c.2544A>G (p.Arg848=)
c.1517A>G
n.2425A>G
c.1395A>G (p.Arg465=)
c.1491A>G (p.Arg497=)
c.2541A>G (p.Arg847=)
c.1881A>G (p.Arg627=)
c.2577A>G (p.Arg859=)
c.2574A>G (p.Arg858=)
c.2451A>G (p.Arg817=)
c.2334A>G (p.Arg778=)
c.1254A>G (p.Arg418=)
n.3481A>G
n.3379A>G
n.2792A>G
n.2690A>G
9g.114402934T>GCA374619094WHRNc.888A>C (p.Arg296Ser)
c.2544A>C (p.Arg848Ser)
c.1517A>C
n.2425A>C
c.1395A>C (p.Arg465Ser)
c.1491A>C (p.Arg497Ser)
c.2541A>C (p.Arg847Ser)
c.1881A>C (p.Arg627Ser)
c.2577A>C (p.Arg859Ser)
c.2574A>C (p.Arg858Ser)
c.2451A>C (p.Arg817Ser)
c.2334A>C (p.Arg778Ser)
c.1254A>C (p.Arg418Ser)
n.3481A>C
n.3379A>C
n.2792A>C
n.2690A>C
9g.114402934_114402936dupCA645554656WHRNc.886_888dup (p.Arg296_Gly297insArg)
c.2542_2544dup (p.Arg848_Gly849insArg)
c.1515_1517dup
n.2423_2425dup
c.1393_1395dup (p.Arg465_Gly466insArg)
c.1489_1491dup (p.Arg497_Gly498insArg)
c.2539_2541dup (p.Arg847_Gly848insArg)
c.1879_1881dup (p.Arg627_Gly628insArg)
c.2575_2577dup (p.Arg859_Gly860insArg)
c.2572_2574dup (p.Arg858_Gly859insArg)
c.2449_2451dup (p.Arg817_Gly818insArg)
c.2332_2334dup (p.Arg778_Gly779insArg)
c.1252_1254dup (p.Arg418_Gly419insArg)
n.3479_3481dup
n.3377_3379dup
n.2790_2792dup
n.2688_2690dup
 COSMIC COSMIC
9g.114402934_114402938delCA2785655499WHRNc.886-2_888del
c.2542-2_2544del
c.1515-2_1517del
n.2423-2_2425del
c.1393-2_1395del
c.1489-2_1491del
c.2539-2_2541del
c.1879-2_1881del
c.2575-2_2577del
c.2572-2_2574del
c.2449-2_2451del
c.2332-2_2334del
c.1252-2_1254del
n.3479-2_3481del
n.3377-2_3379del
n.2790-2_2792del
n.2688-2_2690del
9g.114402935C>ACA374619095WHRNc.887G>T (p.Arg296Ile)
c.2543G>T (p.Arg848Ile)
c.1516G>T
n.2424G>T
c.1394G>T (p.Arg465Ile)
c.1490G>T (p.Arg497Ile)
c.2540G>T (p.Arg847Ile)
c.1880G>T (p.Arg627Ile)
c.2576G>T (p.Arg859Ile)
c.2573G>T (p.Arg858Ile)
c.2450G>T (p.Arg817Ile)
c.2333G>T (p.Arg778Ile)
c.1253G>T (p.Arg418Ile)
n.3480G>T
n.3378G>T
n.2791G>T
n.2689G>T
9g.114402935C=CA1873825396WHRNc.887G= (p.Arg296=)
c.2543G= (p.Arg848=)
c.1516G=
n.2424G=
c.1394G= (p.Arg465=)
c.1490G= (p.Arg497=)
c.2540G= (p.Arg847=)
c.1880G= (p.Arg627=)
c.2576G= (p.Arg859=)
c.2573G= (p.Arg858=)
c.2450G= (p.Arg817=)
c.2333G= (p.Arg778=)
c.1253G= (p.Arg418=)
n.3480G=
n.3378G=
n.2791G=
n.2689G=
9g.114402935C>GCA374619096WHRNc.887G>C (p.Arg296Thr)
c.2543G>C (p.Arg848Thr)
c.1516G>C
n.2424G>C
c.1394G>C (p.Arg465Thr)
c.1490G>C (p.Arg497Thr)
c.2540G>C (p.Arg847Thr)
c.1880G>C (p.Arg627Thr)
c.2576G>C (p.Arg859Thr)
c.2573G>C (p.Arg858Thr)
c.2450G>C (p.Arg817Thr)
c.2333G>C (p.Arg778Thr)
c.1253G>C (p.Arg418Thr)
n.3480G>C
n.3378G>C
n.2791G>C
n.2689G>C
9g.114402935C>TCA374619097WHRNc.887G>A (p.Arg296Lys)
c.2543G>A (p.Arg848Lys)
c.1516G>A
n.2424G>A
c.1394G>A (p.Arg465Lys)
c.1490G>A (p.Arg497Lys)
c.2540G>A (p.Arg847Lys)
c.1880G>A (p.Arg627Lys)
c.2576G>A (p.Arg859Lys)
c.2573G>A (p.Arg858Lys)
c.2450G>A (p.Arg817Lys)
c.2333G>A (p.Arg778Lys)
c.1253G>A (p.Arg418Lys)
n.3480G>A
n.3378G>A
n.2791G>A
n.2689G>A
 dbSNP gnomAD v2 gnomAD v4
9g.114402936T>ACA374619098WHRNc.886A>T (p.Arg296Ter)
c.2542A>T (p.Arg848Ter)
c.1515A>T
n.2423A>T
c.1393A>T (p.Arg465Ter)
c.1489A>T (p.Arg497Ter)
c.2539A>T (p.Arg847Ter)
c.1879A>T (p.Arg627Ter)
c.2575A>T (p.Arg859Ter)
c.2572A>T (p.Arg858Ter)
c.2449A>T (p.Arg817Ter)
c.2332A>T (p.Arg778Ter)
c.1252A>T (p.Arg418Ter)
n.3479A>T
n.3377A>T
n.2790A>T
n.2688A>T
9g.114402936T>CCA374619099WHRNc.886A>G (p.Arg296Gly)
c.2542A>G (p.Arg848Gly)
c.1515A>G
n.2423A>G
c.1393A>G (p.Arg465Gly)
c.1489A>G (p.Arg497Gly)
c.2539A>G (p.Arg847Gly)
c.1879A>G (p.Arg627Gly)
c.2575A>G (p.Arg859Gly)
c.2572A>G (p.Arg858Gly)
c.2449A>G (p.Arg817Gly)
c.2332A>G (p.Arg778Gly)
c.1252A>G (p.Arg418Gly)
n.3479A>G
n.3377A>G
n.2790A>G
n.2688A>G
9g.114402936T>GCA466911107WHRNc.886A>C (p.Arg296=)
c.2542A>C (p.Arg848=)
c.1515A>C
n.2423A>C
c.1393A>C (p.Arg465=)
c.1489A>C (p.Arg497=)
c.2539A>C (p.Arg847=)
c.1879A>C (p.Arg627=)
c.2575A>C (p.Arg859=)
c.2572A>C (p.Arg858=)
c.2449A>C (p.Arg817=)
c.2332A>C (p.Arg778=)
c.1252A>C (p.Arg418=)
n.3479A>C
n.3377A>C
n.2790A>C
n.2688A>C
9g.114402937C>ACA374619100WHRNc.886-1G>T (n.886-1G>T)
c.2542-1G>T (n.2542-1G>T)
c.1515-1G>T
n.2423-1G>T
c.1393-1G>T (n.1393-1G>T)
c.1489-1G>T (n.1489-1G>T)
c.2539-1G>T (n.2539-1G>T)
c.1879-1G>T (n.1879-1G>T)
c.2575-1G>T (n.2575-1G>T)
c.2572-1G>T (n.2572-1G>T)
c.2449-1G>T (n.2449-1G>T)
c.2332-1G>T (n.2332-1G>T)
c.1252-1G>T (n.1252-1G>T)
n.3479-1G>T
n.3377-1G>T
n.2790-1G>T
n.2688-1G>T
9g.114402937C=CA1873825397WHRNc.886-1G= (n.886-1G=)
c.2542-1G= (n.2542-1G=)
c.1515-1G=
n.2423-1G=
c.1393-1G= (n.1393-1G=)
c.1489-1G= (n.1489-1G=)
c.2539-1G= (n.2539-1G=)
c.1879-1G= (n.1879-1G=)
c.2575-1G= (n.2575-1G=)
c.2572-1G= (n.2572-1G=)
c.2449-1G= (n.2449-1G=)
c.2332-1G= (n.2332-1G=)
c.1252-1G= (n.1252-1G=)
n.3479-1G=
n.3377-1G=
n.2790-1G=
n.2688-1G=
9g.114402937C>GCA374619101WHRNc.886-1G>C (n.886-1G>C)
c.2542-1G>C (n.2542-1G>C)
c.1515-1G>C
n.2423-1G>C
c.1393-1G>C (n.1393-1G>C)
c.1489-1G>C (n.1489-1G>C)
c.2539-1G>C (n.2539-1G>C)
c.1879-1G>C (n.1879-1G>C)
c.2575-1G>C (n.2575-1G>C)
c.2572-1G>C (n.2572-1G>C)
c.2449-1G>C (n.2449-1G>C)
c.2332-1G>C (n.2332-1G>C)
c.1252-1G>C (n.1252-1G>C)
n.3479-1G>C
n.3377-1G>C
n.2790-1G>C
n.2688-1G>C
9g.114402937C>TCA374619102WHRNc.886-1G>A (n.886-1G>A)
c.2542-1G>A (n.2542-1G>A)
c.1515-1G>A
n.2423-1G>A
c.1393-1G>A (n.1393-1G>A)
c.1489-1G>A (n.1489-1G>A)
c.2539-1G>A (n.2539-1G>A)
c.1879-1G>A (n.1879-1G>A)
c.2575-1G>A (n.2575-1G>A)
c.2572-1G>A (n.2572-1G>A)
c.2449-1G>A (n.2449-1G>A)
c.2332-1G>A (n.2332-1G>A)
c.1252-1G>A (n.1252-1G>A)
n.3479-1G>A
n.3377-1G>A
n.2790-1G>A
n.2688-1G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.114402938T>ACA374619103WHRNc.886-2A>T (n.886-2A>T)
c.2542-2A>T (n.2542-2A>T)
c.1515-2A>T
n.2423-2A>T
c.1393-2A>T (n.1393-2A>T)
c.1489-2A>T (n.1489-2A>T)
c.2539-2A>T (n.2539-2A>T)
c.1879-2A>T (n.1879-2A>T)
c.2575-2A>T (n.2575-2A>T)
c.2572-2A>T (n.2572-2A>T)
c.2449-2A>T (n.2449-2A>T)
c.2332-2A>T (n.2332-2A>T)
c.1252-2A>T (n.1252-2A>T)
n.3479-2A>T
n.3377-2A>T
n.2790-2A>T
n.2688-2A>T
9g.114402938T>CCA5205584WHRNc.886-2A>G (n.886-2A>G)
c.2542-2A>G (n.2542-2A>G)
c.1515-2A>G
n.2423-2A>G
c.1393-2A>G (n.1393-2A>G)
c.1489-2A>G (n.1489-2A>G)
c.2539-2A>G (n.2539-2A>G)
c.1879-2A>G (n.1879-2A>G)
c.2575-2A>G (n.2575-2A>G)
c.2572-2A>G (n.2572-2A>G)
c.2449-2A>G (n.2449-2A>G)
c.2332-2A>G (n.2332-2A>G)
c.1252-2A>G (n.1252-2A>G)
n.3479-2A>G
n.3377-2A>G
n.2790-2A>G
n.2688-2A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.114402938T>GCA374619104WHRNc.886-2A>C (n.886-2A>C)
c.2542-2A>C (n.2542-2A>C)
c.1515-2A>C
n.2423-2A>C
c.1393-2A>C (n.1393-2A>C)
c.1489-2A>C (n.1489-2A>C)
c.2539-2A>C (n.2539-2A>C)
c.1879-2A>C (n.1879-2A>C)
c.2575-2A>C (n.2575-2A>C)
c.2572-2A>C (n.2572-2A>C)
c.2449-2A>C (n.2449-2A>C)
c.2332-2A>C (n.2332-2A>C)
c.1252-2A>C (n.1252-2A>C)
n.3479-2A>C
n.3377-2A>C
n.2790-2A>C
n.2688-2A>C
9g.114402938T=CA1873825398WHRNc.886-2A= (n.886-2A=)
c.2542-2A= (n.2542-2A=)
c.1515-2A=
n.2423-2A=
c.1393-2A= (n.1393-2A=)
c.1489-2A= (n.1489-2A=)
c.2539-2A= (n.2539-2A=)
c.1879-2A= (n.1879-2A=)
c.2575-2A= (n.2575-2A=)
c.2572-2A= (n.2572-2A=)
c.2449-2A= (n.2449-2A=)
c.2332-2A= (n.2332-2A=)
c.1252-2A= (n.1252-2A=)
n.3479-2A=
n.3377-2A=
n.2790-2A=
n.2688-2A=
9g.114402939G>ACA5205585WHRNc.886-3C>T (n.886-3C>T)
c.2542-3C>T (n.2542-3C>T)
c.1515-3C>T
n.2423-3C>T
c.1393-3C>T (n.1393-3C>T)
c.1489-3C>T (n.1489-3C>T)
c.2539-3C>T (n.2539-3C>T)
c.1879-3C>T (n.1879-3C>T)
c.2575-3C>T (n.2575-3C>T)
c.2572-3C>T (n.2572-3C>T)
c.2449-3C>T (n.2449-3C>T)
c.2332-3C>T (n.2332-3C>T)
c.1252-3C>T (n.1252-3C>T)
n.3479-3C>T
n.3377-3C>T
n.2790-3C>T
n.2688-3C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.114402939G=CA1873825399WHRNc.886-3C= (n.886-3C=)
c.2542-3C= (n.2542-3C=)
c.1515-3C=
n.2423-3C=
c.1393-3C= (n.1393-3C=)
c.1489-3C= (n.1489-3C=)
c.2539-3C= (n.2539-3C=)
c.1879-3C= (n.1879-3C=)
c.2575-3C= (n.2575-3C=)
c.2572-3C= (n.2572-3C=)
c.2449-3C= (n.2449-3C=)
c.2332-3C= (n.2332-3C=)
c.1252-3C= (n.1252-3C=)
n.3479-3C=
n.3377-3C=
n.2790-3C=
n.2688-3C=
9g.114402939G>TCA2691371826WHRNc.886-3C>A (n.886-3C>A)
c.2542-3C>A (n.2542-3C>A)
c.1515-3C>A
n.2423-3C>A
c.1393-3C>A (n.1393-3C>A)
c.1489-3C>A (n.1489-3C>A)
c.2539-3C>A (n.2539-3C>A)
c.1879-3C>A (n.1879-3C>A)
c.2575-3C>A (n.2575-3C>A)
c.2572-3C>A (n.2572-3C>A)
c.2449-3C>A (n.2449-3C>A)
c.2332-3C>A (n.2332-3C>A)
c.1252-3C>A (n.1252-3C>A)
n.3479-3C>A
n.3377-3C>A
n.2790-3C>A
n.2688-3C>A
 gnomAD v4
9g.114402941A=CA1873825400WHRNc.886-5T= (n.886-5T=)
c.2542-5T= (n.2542-5T=)
c.1515-5T=
n.2423-5T=
c.1393-5T= (n.1393-5T=)
c.1489-5T= (n.1489-5T=)
c.2539-5T= (n.2539-5T=)
c.1879-5T= (n.1879-5T=)
c.2575-5T= (n.2575-5T=)
c.2572-5T= (n.2572-5T=)
c.2449-5T= (n.2449-5T=)
c.2332-5T= (n.2332-5T=)
c.1252-5T= (n.1252-5T=)
n.3479-5T=
n.3377-5T=
n.2790-5T=
n.2688-5T=
9g.114402941A>CCA590500372WHRNc.886-5T>G (n.886-5T>G)
c.2542-5T>G (n.2542-5T>G)
c.1515-5T>G
n.2423-5T>G
c.1393-5T>G (n.1393-5T>G)
c.1489-5T>G (n.1489-5T>G)
c.2539-5T>G (n.2539-5T>G)
c.1879-5T>G (n.1879-5T>G)
c.2575-5T>G (n.2575-5T>G)
c.2572-5T>G (n.2572-5T>G)
c.2449-5T>G (n.2449-5T>G)
c.2332-5T>G (n.2332-5T>G)
c.1252-5T>G (n.1252-5T>G)
n.3479-5T>G
n.3377-5T>G
n.2790-5T>G
n.2688-5T>G
 dbSNP gnomAD v2 gnomAD v4
9g.114402942G>ACA2691371834WHRNc.886-6C>T (n.886-6C>T)
c.2542-6C>T (n.2542-6C>T)
c.1515-6C>T
n.2423-6C>T
c.1393-6C>T (n.1393-6C>T)
c.1489-6C>T (n.1489-6C>T)
c.2539-6C>T (n.2539-6C>T)
c.1879-6C>T (n.1879-6C>T)
c.2575-6C>T (n.2575-6C>T)
c.2572-6C>T (n.2572-6C>T)
c.2449-6C>T (n.2449-6C>T)
c.2332-6C>T (n.2332-6C>T)
c.1252-6C>T (n.1252-6C>T)
n.3479-6C>T
n.3377-6C>T
n.2790-6C>T
n.2688-6C>T
 gnomAD v4
9g.114402942G>CCA2691371836WHRNc.886-6C>G (n.886-6C>G)
c.2542-6C>G (n.2542-6C>G)
c.1515-6C>G
n.2423-6C>G
c.1393-6C>G (n.1393-6C>G)
c.1489-6C>G (n.1489-6C>G)
c.2539-6C>G (n.2539-6C>G)
c.1879-6C>G (n.1879-6C>G)
c.2575-6C>G (n.2575-6C>G)
c.2572-6C>G (n.2572-6C>G)
c.2449-6C>G (n.2449-6C>G)
c.2332-6C>G (n.2332-6C>G)
c.1252-6C>G (n.1252-6C>G)
n.3479-6C>G
n.3377-6C>G
n.2790-6C>G
n.2688-6C>G
 gnomAD v4
9g.114402942G>TCA2691371838WHRNc.886-6C>A (n.886-6C>A)
c.2542-6C>A (n.2542-6C>A)
c.1515-6C>A
n.2423-6C>A
c.1393-6C>A (n.1393-6C>A)
c.1489-6C>A (n.1489-6C>A)
c.2539-6C>A (n.2539-6C>A)
c.1879-6C>A (n.1879-6C>A)
c.2575-6C>A (n.2575-6C>A)
c.2572-6C>A (n.2572-6C>A)
c.2449-6C>A (n.2449-6C>A)
c.2332-6C>A (n.2332-6C>A)
c.1252-6C>A (n.1252-6C>A)
n.3479-6C>A
n.3377-6C>A
n.2790-6C>A
n.2688-6C>A
 gnomAD v4
9g.114402943G>CCA5205586WHRNc.886-7C>G (n.886-7C>G)
c.2542-7C>G (n.2542-7C>G)
c.1515-7C>G
n.2423-7C>G
c.1393-7C>G (n.1393-7C>G)
c.1489-7C>G (n.1489-7C>G)
c.2539-7C>G (n.2539-7C>G)
c.1879-7C>G (n.1879-7C>G)
c.2575-7C>G (n.2575-7C>G)
c.2572-7C>G (n.2572-7C>G)
c.2449-7C>G (n.2449-7C>G)
c.2332-7C>G (n.2332-7C>G)
c.1252-7C>G (n.1252-7C>G)
n.3479-7C>G
n.3377-7C>G
n.2790-7C>G
n.2688-7C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.114402943G=CA1873825401WHRNc.886-7C= (n.886-7C=)
c.2542-7C= (n.2542-7C=)
c.1515-7C=
n.2423-7C=
c.1393-7C= (n.1393-7C=)
c.1489-7C= (n.1489-7C=)
c.2539-7C= (n.2539-7C=)
c.1879-7C= (n.1879-7C=)
c.2575-7C= (n.2575-7C=)
c.2572-7C= (n.2572-7C=)
c.2449-7C= (n.2449-7C=)
c.2332-7C= (n.2332-7C=)
c.1252-7C= (n.1252-7C=)
n.3479-7C=
n.3377-7C=
n.2790-7C=
n.2688-7C=
9g.114402943G>TCA2691371842WHRNc.886-7C>A (n.886-7C>A)
c.2542-7C>A (n.2542-7C>A)
c.1515-7C>A
n.2423-7C>A
c.1393-7C>A (n.1393-7C>A)
c.1489-7C>A (n.1489-7C>A)
c.2539-7C>A (n.2539-7C>A)
c.1879-7C>A (n.1879-7C>A)
c.2575-7C>A (n.2575-7C>A)
c.2572-7C>A (n.2572-7C>A)
c.2449-7C>A (n.2449-7C>A)
c.2332-7C>A (n.2332-7C>A)
c.1252-7C>A (n.1252-7C>A)
n.3479-7C>A
n.3377-7C>A
n.2790-7C>A
n.2688-7C>A
 gnomAD v4
9g.114402944G>CCA2739265003WHRNc.886-8C>G (n.886-8C>G)
c.2542-8C>G (n.2542-8C>G)
c.1515-8C>G
n.2423-8C>G
c.1393-8C>G (n.1393-8C>G)
c.1489-8C>G (n.1489-8C>G)
c.2539-8C>G (n.2539-8C>G)
c.1879-8C>G (n.1879-8C>G)
c.2575-8C>G (n.2575-8C>G)
c.2572-8C>G (n.2572-8C>G)
c.2449-8C>G (n.2449-8C>G)
c.2332-8C>G (n.2332-8C>G)
c.1252-8C>G (n.1252-8C>G)
n.3479-8C>G
n.3377-8C>G
n.2790-8C>G
n.2688-8C>G
 ClinVar
9g.114402944G>TCA2691371844WHRNc.886-8C>A (n.886-8C>A)
c.2542-8C>A (n.2542-8C>A)
c.1515-8C>A
n.2423-8C>A
c.1393-8C>A (n.1393-8C>A)
c.1489-8C>A (n.1489-8C>A)
c.2539-8C>A (n.2539-8C>A)
c.1879-8C>A (n.1879-8C>A)
c.2575-8C>A (n.2575-8C>A)
c.2572-8C>A (n.2572-8C>A)
c.2449-8C>A (n.2449-8C>A)
c.2332-8C>A (n.2332-8C>A)
c.1252-8C>A (n.1252-8C>A)
n.3479-8C>A
n.3377-8C>A
n.2790-8C>A
n.2688-8C>A
 gnomAD v4
9g.114402946G>ACA198648805WHRNc.886-10C>T (n.886-10C>T)
c.2542-10C>T (n.2542-10C>T)
c.1515-10C>T
n.2423-10C>T
c.1393-10C>T (n.1393-10C>T)
c.1489-10C>T (n.1489-10C>T)
c.2539-10C>T (n.2539-10C>T)
c.1879-10C>T (n.1879-10C>T)
c.2575-10C>T (n.2575-10C>T)
c.2572-10C>T (n.2572-10C>T)
c.2449-10C>T (n.2449-10C>T)
c.2332-10C>T (n.2332-10C>T)
c.1252-10C>T (n.1252-10C>T)
n.3479-10C>T
n.3377-10C>T
n.2790-10C>T
n.2688-10C>T
 dbSNP gnomAD v4
9g.114402946G=CA1873825402WHRNc.886-10C= (n.886-10C=)
c.2542-10C= (n.2542-10C=)
c.1515-10C=
n.2423-10C=
c.1393-10C= (n.1393-10C=)
c.1489-10C= (n.1489-10C=)
c.2539-10C= (n.2539-10C=)
c.1879-10C= (n.1879-10C=)
c.2575-10C= (n.2575-10C=)
c.2572-10C= (n.2572-10C=)
c.2449-10C= (n.2449-10C=)
c.2332-10C= (n.2332-10C=)
c.1252-10C= (n.1252-10C=)
n.3479-10C=
n.3377-10C=
n.2790-10C=
n.2688-10C=
9g.114402946G>TCA2691371848WHRNc.886-10C>A (n.886-10C>A)
c.2542-10C>A (n.2542-10C>A)
c.1515-10C>A
n.2423-10C>A
c.1393-10C>A (n.1393-10C>A)
c.1489-10C>A (n.1489-10C>A)
c.2539-10C>A (n.2539-10C>A)
c.1879-10C>A (n.1879-10C>A)
c.2575-10C>A (n.2575-10C>A)
c.2572-10C>A (n.2572-10C>A)
c.2449-10C>A (n.2449-10C>A)
c.2332-10C>A (n.2332-10C>A)
c.1252-10C>A (n.1252-10C>A)
n.3479-10C>A
n.3377-10C>A
n.2790-10C>A
n.2688-10C>A
 gnomAD v4
9g.114402947delCA2691371847WHRNc.886-10del (n.886-10del)
c.2542-10del (n.2542-10del)
c.1515-10del
n.2423-10del
c.1393-10del (n.1393-10del)
c.1489-10del (n.1489-10del)
c.2539-10del (n.2539-10del)
c.1879-10del (n.1879-10del)
c.2575-10del (n.2575-10del)
c.2572-10del (n.2572-10del)
c.2449-10del (n.2449-10del)
c.2332-10del (n.2332-10del)
c.1252-10del (n.1252-10del)
n.3479-10del
n.3377-10del
n.2790-10del
n.2688-10del
 gnomAD v4
9g.114402947G>ACA2691371849WHRNc.886-11C>T (n.886-11C>T)
c.2542-11C>T (n.2542-11C>T)
c.1515-11C>T
n.2423-11C>T
c.1393-11C>T (n.1393-11C>T)
c.1489-11C>T (n.1489-11C>T)
c.2539-11C>T (n.2539-11C>T)
c.1879-11C>T (n.1879-11C>T)
c.2575-11C>T (n.2575-11C>T)
c.2572-11C>T (n.2572-11C>T)
c.2449-11C>T (n.2449-11C>T)
c.2332-11C>T (n.2332-11C>T)
c.1252-11C>T (n.1252-11C>T)
n.3479-11C>T
n.3377-11C>T
n.2790-11C>T
n.2688-11C>T
 gnomAD v4

Number of alleles fetched