Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.151001819A>CCA369857429NOS3c.1503-2A>C (n.1503-2A>C)
c.885-2A>C (n.885-2A>C)
7g.151001819A>GCA369857431NOS3c.1503-2A>G (n.1503-2A>G)
c.885-2A>G (n.885-2A>G)
7g.151001819A>TCA369857433NOS3c.1503-2A>T (n.1503-2A>T)
c.885-2A>T (n.885-2A>T)
7g.151001820G>ACA369857437NOS3c.1503-1G>A (n.1503-1G>A)
c.885-1G>A (n.885-1G>A)
7g.151001820G>CCA369857439NOS3c.1503-1G>C (n.1503-1G>C)
c.885-1G>C (n.885-1G>C)
7g.151001820G>TCA369857441NOS3c.1503-1G>T (n.1503-1G>T)
c.885-1G>T (n.885-1G>T)
7g.151001821C>ACA369857443NOS3c.1503C>A (p.Asn501Lys)
c.885C>A (p.Asn295Lys)
7g.151001821C=CA1752441677NOS3c.1503C= (p.Asn501=)
c.885C= (p.Asn295=)
7g.151001821C>GCA369857445NOS3c.1503C>G (p.Asn501Lys)
c.885C>G (p.Asn295Lys)
7g.151001821C>TCA4567017NOS3c.1503C>T (p.Asn501=)
c.885C>T (p.Asn295=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.151001822G>ACA369857449NOS3c.1504G>A (p.Ala502Thr)
c.886G>A (p.Ala296Thr)
 gnomAD v4
7g.151001822G>CCA369857455NOS3c.1504G>C (p.Ala502Pro)
c.886G>C (p.Ala296Pro)
7g.151001822G=CA1752441698NOS3c.1504G= (p.Ala502=)
c.886G= (p.Ala296=)
7g.151001822G>TCA369857452NOS3c.1504G>T (p.Ala502Ser)
c.886G>T (p.Ala296Ser)
 dbSNP gnomAD v2
7g.151001823C>ACA369857458NOS3c.1505C>A (p.Ala502Asp)
c.887C>A (p.Ala296Asp)
7g.151001823C>GCA369857463NOS3c.1505C>G (p.Ala502Gly)
c.887C>G (p.Ala296Gly)
7g.151001823C>TCA369857460NOS3c.1505C>T (p.Ala502Val)
c.887C>T (p.Ala296Val)
7g.151001824C>ACA458649433NOS3c.1506C>A (p.Ala502=)
c.888C>A (p.Ala296=)
7g.151001824C=CA1752441716NOS3c.1506C= (p.Ala502=)
c.888C= (p.Ala296=)
7g.151001824C>GCA458649432NOS3c.1506C>G (p.Ala502=)
c.888C>G (p.Ala296=)
 gnomAD v4
7g.151001824C>TCA458649435NOS3c.1506C>T (p.Ala502=)
c.888C>T (p.Ala296=)
 dbSNP gnomAD v2 gnomAD v4
7g.151001825G>ACA4567018NOS3c.1507G>A (p.Val503Met)
c.889G>A (p.Val297Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151001825G>CCA369857466NOS3c.1507G>C (p.Val503Leu)
c.889G>C (p.Val297Leu)
7g.151001825G=CA1752441722NOS3c.1507G= (p.Val503=)
c.889G= (p.Val297=)
7g.151001825G>TCA369857468NOS3c.1507G>T (p.Val503Leu)
c.889G>T (p.Val297Leu)
7g.151001826T>ACA369857472NOS3c.1508T>A (p.Val503Glu)
c.890T>A (p.Val297Glu)
7g.151001826T>CCA369857474NOS3c.1508T>C (p.Val503Ala)
c.890T>C (p.Val297Ala)
 dbSNP
7g.151001826T>GCA369857476NOS3c.1508T>G (p.Val503Gly)
c.890T>G (p.Val297Gly)
7g.151001826T=CA1752441731NOS3c.1508T= (p.Val503=)
c.890T= (p.Val297=)
7g.151001827G>ACA458649438NOS3c.1509G>A (p.Val503=)
c.891G>A (p.Val297=)
7g.151001827G>CCA458649439NOS3c.1509G>C (p.Val503=)
c.891G>C (p.Val297=)
7g.151001827G>TCA458649441NOS3c.1509G>T (p.Val503=)
c.891G>T (p.Val297=)
7g.151001828A>CCA369857477NOS3c.1510A>C (p.Lys504Gln)
c.892A>C (p.Lys298Gln)
7g.151001828A>GCA369857478NOS3c.1510A>G (p.Lys504Glu)
c.892A>G (p.Lys298Glu)
7g.151001828A>TCA369857481NOS3c.1510A>T (p.Lys504Ter)
c.892A>T (p.Lys298Ter)
 gnomAD v3 gnomAD v4
7g.151001829A=CA1752441739NOS3c.1511A= (p.Lys504=)
c.893A= (p.Lys298=)
7g.151001829A>CCA369857484NOS3c.1511A>C (p.Lys504Thr)
c.893A>C (p.Lys298Thr)
 gnomAD v4
7g.151001829A>GCA369857485NOS3c.1511A>G (p.Lys504Arg)
c.893A>G (p.Lys298Arg)
 gnomAD v4
7g.151001829A>TCA369857487NOS3c.1511A>T (p.Lys504Met)
c.893A>T (p.Lys298Met)
 dbSNP gnomAD v3 gnomAD v4
7g.151001830G>ACA458649444NOS3c.1512G>A (p.Lys504=)
c.894G>A (p.Lys298=)
7g.151001830G>CCA369857490NOS3c.1512G>C (p.Lys504Asn)
c.894G>C (p.Lys298Asn)
7g.151001830G>TCA369857491NOS3c.1512G>T (p.Lys504Asn)
c.894G>T (p.Lys298Asn)
7g.151001831A=CA1752441746NOS3c.1513A= (p.Ile505=)
c.895A= (p.Ile299=)
7g.151001831A>CCA369857494NOS3c.1513A>C (p.Ile505Leu)
c.895A>C (p.Ile299Leu)
7g.151001831A>GCA369857496NOS3c.1513A>G (p.Ile505Val)
c.895A>G (p.Ile299Val)
7g.151001831A>TCA369857498NOS3c.1513A>T (p.Ile505Phe)
c.895A>T (p.Ile299Phe)
 dbSNP gnomAD v2 gnomAD v4
7g.151001832T>ACA369857499NOS3c.1514T>A (p.Ile505Asn)
c.896T>A (p.Ile299Asn)
7g.151001832T>CCA369857501NOS3c.1514T>C (p.Ile505Thr)
c.896T>C (p.Ile299Thr)
7g.151001832T>GCA369857503NOS3c.1514T>G (p.Ile505Ser)
c.896T>G (p.Ile299Ser)
7g.151001833C>ACA458649447NOS3c.1515C>A (p.Ile505=)
c.897C>A (p.Ile299=)
7g.151001833C=CA1752441758NOS3c.1515C= (p.Ile505=)
c.897C= (p.Ile299=)
7g.151001833C>GCA369857505NOS3c.1515C>G (p.Ile505Met)
c.897C>G (p.Ile299Met)
7g.151001833C>TCA458649448NOS3c.1515C>T (p.Ile505=)
c.897C>T (p.Ile299=)
 dbSNP gnomAD v4
7g.151001834T>ACA369857507NOS3c.1516T>A (p.Ser506Thr)
c.898T>A (p.Ser300Thr)
7g.151001834T>CCA369857510NOS3c.1516T>C (p.Ser506Pro)
c.898T>C (p.Ser300Pro)
7g.151001834T>GCA369857512NOS3c.1516T>G (p.Ser506Ala)
c.898T>G (p.Ser300Ala)
7g.151001835C>ACA369857519NOS3c.1517C>A (p.Ser506Tyr)
c.899C>A (p.Ser300Tyr)
7g.151001835C=CA1752441765NOS3c.1517C= (p.Ser506=)
c.899C= (p.Ser300=)
7g.151001835C>GCA369857517NOS3c.1517C>G (p.Ser506Cys)
c.899C>G (p.Ser300Cys)
7g.151001835C>TCA4567019NOS3c.1517C>T (p.Ser506Phe)
c.899C>T (p.Ser300Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151001836C>ACA458649452NOS3c.1518C>A (p.Ser506=)
c.900C>A (p.Ser300=)
7g.151001836C=CA1752441772NOS3c.1518C= (p.Ser506=)
c.900C= (p.Ser300=)
7g.151001836C>GCA458649453NOS3c.1518C>G (p.Ser506=)
c.900C>G (p.Ser300=)
7g.151001836C>TCA4567020NOS3c.1518C>T (p.Ser506=)
c.900C>T (p.Ser300=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.151001837G>ACA369857524NOS3c.1519G>A (p.Ala507Thr)
c.901G>A (p.Ala301Thr)
 dbSNP gnomAD v4
7g.151001837G>CCA369857526NOS3c.1519G>C (p.Ala507Pro)
c.901G>C (p.Ala301Pro)
7g.151001837G=CA1752441786NOS3c.1519G= (p.Ala507=)
c.901G= (p.Ala301=)
7g.151001837G>TCA369857528NOS3c.1519G>T (p.Ala507Ser)
c.901G>T (p.Ala301Ser)
7g.151001838C>ACA369857531NOS3c.1520C>A (p.Ala507Asp)
c.902C>A (p.Ala301Asp)
7g.151001838C>GCA369857533NOS3c.1520C>G (p.Ala507Gly)
c.902C>G (p.Ala301Gly)
7g.151001838C>TCA369857535NOS3c.1520C>T (p.Ala507Val)
c.902C>T (p.Ala301Val)
7g.151001839C>ACA458649455NOS3c.1521C>A (p.Ala507=)
c.903C>A (p.Ala301=)
7g.151001839C>GCA458649456NOS3c.1521C>G (p.Ala507=)
c.903C>G (p.Ala301=)
7g.151001839C>TCA458649457NOS3c.1521C>T (p.Ala507=)
c.903C>T (p.Ala301=)
7g.151001840T>ACA369857539NOS3c.1522T>A (p.Ser508Thr)
c.904T>A (p.Ser302Thr)
7g.151001840T>CCA369857541NOS3c.1522T>C (p.Ser508Pro)
c.904T>C (p.Ser302Pro)
7g.151001840T>GCA369857543NOS3c.1522T>G (p.Ser508Ala)
c.904T>G (p.Ser302Ala)
7g.151001841C>ACA369858178NOS3c.1523C>A (p.Ser508Ter)
c.905C>A (p.Ser302Ter)
7g.151001841C>GCA369858179NOS3c.1523C>G (p.Ser508Trp)
c.905C>G (p.Ser302Trp)
7g.151001841C>TCA369858180NOS3c.1523C>T (p.Ser508Leu)
c.905C>T (p.Ser302Leu)
7g.151001842G>ACA169073899NOS3c.1524G>A (p.Ser508=)
c.906G>A (p.Ser302=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.151001842G>CCA458871987NOS3c.1524G>C (p.Ser508=)
c.906G>C (p.Ser302=)
7g.151001842G=CA1752441797NOS3c.1524G= (p.Ser508=)
c.906G= (p.Ser302=)
7g.151001842G>TCA4567021NOS3c.1524G>T (p.Ser508=)
c.906G>T (p.Ser302=)
 dbSNP ExAC gnomAD v2
7g.151001843C>ACA369858181NOS3c.1525C>A (p.Leu509Ile)
c.907C>A (p.Leu303Ile)
7g.151001843C>GCA369858182NOS3c.1525C>G (p.Leu509Val)
c.907C>G (p.Leu303Val)
7g.151001843C>TCA369858183NOS3c.1525C>T (p.Leu509Phe)
c.907C>T (p.Leu303Phe)
7g.151001844T>ACA369858184NOS3c.1526T>A (p.Leu509His)
c.908T>A (p.Leu303His)
7g.151001844T>CCA369858185NOS3c.1526T>C (p.Leu509Pro)
c.908T>C (p.Leu303Pro)
7g.151001844T>GCA369858186NOS3c.1526T>G (p.Leu509Arg)
c.908T>G (p.Leu303Arg)
7g.151001845C>ACA458872000NOS3c.1527C>A (p.Leu509=)
c.909C>A (p.Leu303=)
7g.151001845C=CA1752441802NOS3c.1527C= (p.Leu509=)
c.909C= (p.Leu303=)
7g.151001845C>GCA458871994NOS3c.1527C>G (p.Leu509=)
c.909C>G (p.Leu303=)
7g.151001845C>TCA458871992NOS3c.1527C>T (p.Leu509=)
c.909C>T (p.Leu303=)
 dbSNP
7g.151001846A=CA1752441806NOS3c.1528A= (p.Met510=)
c.910A= (p.Met304=)
7g.151001846A>CCA369858187NOS3c.1528A>C (p.Met510Leu)
c.910A>C (p.Met304Leu)
7g.151001846A>GCA369858188NOS3c.1528A>G (p.Met510Val)
c.910A>G (p.Met304Val)
 dbSNP gnomAD v2 gnomAD v4
7g.151001846A>TCA369858189NOS3c.1528A>T (p.Met510Leu)
c.910A>T (p.Met304Leu)
7g.151001847T>ACA369858190NOS3c.1529T>A (p.Met510Lys)
c.911T>A (p.Met304Lys)
7g.151001847T>CCA369858191NOS3c.1529T>C (p.Met510Thr)
c.911T>C (p.Met304Thr)
 gnomAD v4 COSMIC
7g.151001847T>GCA369858192NOS3c.1529T>G (p.Met510Arg)
c.911T>G (p.Met304Arg)
 gnomAD v4
7g.151001848G>ACA369858194NOS3c.1530G>A (p.Met510Ile)
c.912G>A (p.Met304Ile)
 gnomAD v4
7g.151001848G>CCA369858195NOS3c.1530G>C (p.Met510Ile)
c.912G>C (p.Met304Ile)
7g.151001848G>TCA369858193NOS3c.1530G>T (p.Met510Ile)
c.912G>T (p.Met304Ile)
 COSMIC
7g.151001849G>ACA369858197NOS3c.1531G>A (p.Gly511Ser)
c.913G>A (p.Gly305Ser)
 gnomAD v4
7g.151001849G>CCA369858196NOS3c.1531G>C (p.Gly511Arg)
c.913G>C (p.Gly305Arg)
7g.151001849G>TCA369858198NOS3c.1531G>T (p.Gly511Cys)
c.913G>T (p.Gly305Cys)
7g.151001850G>ACA369858199NOS3c.1532G>A (p.Gly511Asp)
c.914G>A (p.Gly305Asp)
 dbSNP gnomAD v2 gnomAD v4
7g.151001850G>CCA369858200NOS3c.1532G>C (p.Gly511Ala)
c.914G>C (p.Gly305Ala)
7g.151001850G=CA1752441810NOS3c.1532G= (p.Gly511=)
c.914G= (p.Gly305=)
7g.151001850G>TCA369858201NOS3c.1532G>T (p.Gly511Val)
c.914G>T (p.Gly305Val)
7g.151001851C>ACA458872015NOS3c.1533C>A (p.Gly511=)
c.915C>A (p.Gly305=)
7g.151001851C>GCA458872019NOS3c.1533C>G (p.Gly511=)
c.915C>G (p.Gly305=)
 gnomAD v4
7g.151001851C>TCA458872018NOS3c.1533C>T (p.Gly511=)
c.915C>T (p.Gly305=)
7g.151001852A>CCA369858202NOS3c.1534A>C (p.Thr512Pro)
c.916A>C (p.Thr306Pro)
7g.151001852A>GCA369858203NOS3c.1534A>G (p.Thr512Ala)
c.916A>G (p.Thr306Ala)
7g.151001852A>TCA369858204NOS3c.1534A>T (p.Thr512Ser)
c.916A>T (p.Thr306Ser)
7g.151001853C>ACA369858205NOS3c.1535C>A (p.Thr512Lys)
c.917C>A (p.Thr306Lys)
7g.151001853C=CA1752441846NOS3c.1535C= (p.Thr512=)
c.917C= (p.Thr306=)
7g.151001853C>GCA369858206NOS3c.1535C>G (p.Thr512Arg)
c.917C>G (p.Thr306Arg)
7g.151001853C>TCA4567022NOS3c.1535C>T (p.Thr512Met)
c.917C>T (p.Thr306Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151001854G>ACA458872020NOS3c.1536G>A (p.Thr512=)
c.918G>A (p.Thr306=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151001854G>CCA458872021NOS3c.1536G>C (p.Thr512=)
c.918G>C (p.Thr306=)
 gnomAD v4
7g.151001854G=CA1752441852NOS3c.1536G= (p.Thr512=)
c.918G= (p.Thr306=)
7g.151001854G>TCA458872022NOS3c.1536G>T (p.Thr512=)
c.918G>T (p.Thr306=)
7g.151001855G>ACA369858207NOS3c.1537G>A (p.Val513Met)
c.919G>A (p.Val307Met)
7g.151001855G>CCA369858208NOS3c.1537G>C (p.Val513Leu)
c.919G>C (p.Val307Leu)
7g.151001855G=CA1752441862NOS3c.1537G= (p.Val513=)
c.919G= (p.Val307=)
7g.151001855G>TCA369858209NOS3c.1537G>T (p.Val513Leu)
c.919G>T (p.Val307Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151001856T>ACA369858212NOS3c.1538T>A (p.Val513Glu)
c.920T>A (p.Val307Glu)
7g.151001856T>CCA369858211NOS3c.1538T>C (p.Val513Ala)
c.920T>C (p.Val307Ala)
 gnomAD v4
7g.151001856T>GCA369858210NOS3c.1538T>G (p.Val513Gly)
c.920T>G (p.Val307Gly)
7g.151001857G>ACA458872026NOS3c.1539G>A (p.Val513=)
c.921G>A (p.Val307=)
7g.151001857G>CCA458872028NOS3c.1539G>C (p.Val513=)
c.921G>C (p.Val307=)
7g.151001857G>TCA458872032NOS3c.1539G>T (p.Val513=)
c.921G>T (p.Val307=)
7g.151001858A>CCA369858213NOS3c.1540A>C (p.Met514Leu)
c.922A>C (p.Met308Leu)
7g.151001858A>GCA369858214NOS3c.1540A>G (p.Met514Val)
c.922A>G (p.Met308Val)
7g.151001858A>TCA369858215NOS3c.1540A>T (p.Met514Leu)
c.922A>T (p.Met308Leu)
7g.151001858dupCA2579063487NOS3c.1540dup (p.Met514AsnfsTer?)
c.922dup (p.Met308AsnfsTer?)
7g.151001859T>ACA369858216NOS3c.1541T>A (p.Met514Lys)
c.923T>A (p.Met308Lys)
7g.151001859T>CCA369858217NOS3c.1541T>C (p.Met514Thr)
c.923T>C (p.Met308Thr)
7g.151001859T>GCA369858218NOS3c.1541T>G (p.Met514Arg)
c.923T>G (p.Met308Arg)
7g.151001860G>ACA4567023NOS3c.1542G>A (p.Met514Ile)
c.924G>A (p.Met308Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.151001860G>CCA369858219NOS3c.1542G>C (p.Met514Ile)
c.924G>C (p.Met308Ile)
7g.151001860G=CA1752441870NOS3c.1542G= (p.Met514=)
c.924G= (p.Met308=)
7g.151001860G>TCA369858220NOS3c.1542G>T (p.Met514Ile)
c.924G>T (p.Met308Ile)
7g.151001861G>ACA369858221NOS3c.1543G>A (p.Ala515Thr)
c.925G>A (p.Ala309Thr)
7g.151001861G>CCA369858222NOS3c.1543G>C (p.Ala515Pro)
c.925G>C (p.Ala309Pro)
7g.151001861G>TCA369858223NOS3c.1543G>T (p.Ala515Ser)
c.925G>T (p.Ala309Ser)
7g.151001862C>ACA369858226NOS3c.1544C>A (p.Ala515Glu)
c.926C>A (p.Ala309Glu)
7g.151001862C=CA1752441877NOS3c.1544C= (p.Ala515=)
c.926C= (p.Ala309=)
7g.151001862C>GCA369858225NOS3c.1544C>G (p.Ala515Gly)
c.926C>G (p.Ala309Gly)
7g.151001862C>TCA369858224NOS3c.1544C>T (p.Ala515Val)
c.926C>T (p.Ala309Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151001863G>ACA458872037NOS3c.1545G>A (p.Ala515=)
c.927G>A (p.Ala309=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151001863G>CCA458872038NOS3c.1545G>C (p.Ala515=)
c.927G>C (p.Ala309=)
7g.151001863G=CA1752441889NOS3c.1545G= (p.Ala515=)
c.927G= (p.Ala309=)
7g.151001863G>TCA458872040NOS3c.1545G>T (p.Ala515=)
c.927G>T (p.Ala309=)
7g.151001864A>CCA369858227NOS3c.1546A>C (p.Lys516Gln)
c.928A>C (p.Lys310Gln)
7g.151001864A>GCA369858228NOS3c.1546A>G (p.Lys516Glu)
c.928A>G (p.Lys310Glu)
7g.151001864A>TCA369858229NOS3c.1546A>T (p.Lys516Ter)
c.928A>T (p.Lys310Ter)
7g.151001865A>CCA369858230NOS3c.1547A>C (p.Lys516Thr)
c.929A>C (p.Lys310Thr)
7g.151001865A>GCA369858231NOS3c.1547A>G (p.Lys516Arg)
c.929A>G (p.Lys310Arg)
7g.151001865A>TCA369858232NOS3c.1547A>T (p.Lys516Met)
c.929A>T (p.Lys310Met)
7g.151001866G>ACA458872047NOS3c.1548G>A (p.Lys516=)
c.930G>A (p.Lys310=)
 dbSNP gnomAD v3 gnomAD v4
7g.151001866G>CCA369858233NOS3c.1548G>C (p.Lys516Asn)
c.930G>C (p.Lys310Asn)
7g.151001866G=CA1752441897NOS3c.1548G= (p.Lys516=)
c.930G= (p.Lys310=)
7g.151001866G>TCA369858234NOS3c.1548G>T (p.Lys516Asn)
c.930G>T (p.Lys310Asn)
7g.151001867C>ACA458872054NOS3c.1549C>A (p.Arg517=)
n.1C>A
c.931C>A (p.Arg311=)
 dbSNP gnomAD v3 gnomAD v4
7g.151001867C=CA1752441904NOS3c.1549C= (p.Arg517=)
n.1C=
c.931C= (p.Arg311=)
7g.151001867C>GCA369858235NOS3c.1549C>G (p.Arg517Gly)
n.1C>G
c.931C>G (p.Arg311Gly)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
7g.151001867C>TCA369858236NOS3c.1549C>T (p.Arg517Ter)
n.1C>T
c.931C>T (p.Arg311Ter)
 gnomAD v4
7g.151001867_151001868delinsCGCA1752441902NOS3c.1549_1550delinsCG (p.Arg517=)
n.1_2delinsCG
c.931_932delinsCG (p.Arg311=)
7g.151001868delCA579075606NOS3c.1550del (p.Arg517GlnfsTer2)
n.2del
c.932del (p.Arg311GlnfsTer2)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151001868G>ACA369858237NOS3c.1550G>A (p.Arg517Gln)
n.2G>A
c.932G>A (p.Arg311Gln)
 gnomAD v4
7g.151001868G>CCA369858238NOS3c.1550G>C (p.Arg517Pro)
n.2G>C
c.932G>C (p.Arg311Pro)
7g.151001868G>TCA369858239NOS3c.1550G>T (p.Arg517Leu)
n.2G>T
c.932G>T (p.Arg311Leu)
7g.151001869A>CCA458872060NOS3c.1551A>C (p.Arg517=)
n.3A>C
c.933A>C (p.Arg311=)
7g.151001869A>GCA458872062NOS3c.1551A>G (p.Arg517=)
n.3A>G
c.933A>G (p.Arg311=)
7g.151001869A>TCA458872064NOS3c.1551A>T (p.Arg517=)
n.3A>T
c.933A>T (p.Arg311=)
7g.151001870G>ACA369858241NOS3c.1552G>A (p.Val518Met)
n.4G>A
c.934G>A (p.Val312Met)
7g.151001870G>CCA4567024NOS3c.1552G>C (p.Val518Leu)
n.4G>C
c.934G>C (p.Val312Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.151001870G=CA1752441915NOS3c.1552G= (p.Val518=)
n.4G=
c.934G= (p.Val312=)
7g.151001870G>TCA369858240NOS3c.1552G>T (p.Val518Leu)
n.4G>T
c.934G>T (p.Val312Leu)
7g.151001871T>ACA369858242NOS3c.1553T>A (p.Val518Glu)
n.5T>A
c.935T>A (p.Val312Glu)
7g.151001871T>CCA369858243NOS3c.1553T>C (p.Val518Ala)
n.5T>C
c.935T>C (p.Val312Ala)
7g.151001871T>GCA369858244NOS3c.1553T>G (p.Val518Gly)
n.5T>G
c.935T>G (p.Val312Gly)
7g.151001872G>ACA458872076NOS3c.1554G>A (p.Val518=)
n.6G>A
c.936G>A (p.Val312=)
7g.151001872G>CCA458872077NOS3c.1554G>C (p.Val518=)
n.6G>C
c.936G>C (p.Val312=)
7g.151001872G>TCA458872078NOS3c.1554G>T (p.Val518=)
n.6G>T
c.936G>T (p.Val312=)
7g.151001873A>CCA369858245NOS3c.1555A>C (p.Lys519Gln)
n.7A>C
c.937A>C (p.Lys313Gln)
7g.151001873A>GCA369858246NOS3c.1555A>G (p.Lys519Glu)
n.7A>G
c.937A>G (p.Lys313Glu)
7g.151001873A>TCA369858247NOS3c.1555A>T (p.Lys519Ter)
n.7A>T
c.937A>T (p.Lys313Ter)
 COSMIC
7g.151001874A=CA1752441920NOS3c.1556A= (p.Lys519=)
n.8A=
c.938A= (p.Lys313=)
7g.151001874A>CCA369858248NOS3c.1556A>C (p.Lys519Thr)
n.8A>C
c.938A>C (p.Lys313Thr)
7g.151001874A>GCA369858249NOS3c.1556A>G (p.Lys519Arg)
n.8A>G
c.938A>G (p.Lys313Arg)
7g.151001874A>TCA369858250NOS3c.1556A>T (p.Lys519Met)
n.8A>T
c.938A>T (p.Lys313Met)
 dbSNP
7g.151001875G>ACA458872085NOS3c.1557G>A (p.Lys519=)
n.9G>A
c.939G>A (p.Lys313=)
 gnomAD v4
7g.151001875G>CCA369858251NOS3c.1557G>C (p.Lys519Asn)
n.9G>C
c.939G>C (p.Lys313Asn)
7g.151001875G>TCA369858252NOS3c.1557G>T (p.Lys519Asn)
n.9G>T
c.939G>T (p.Lys313Asn)
7g.151001876G>ACA4567025NOS3c.1558G>A (p.Ala520Thr)
n.10G>A
c.940G>A (p.Ala314Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151001876G>CCA369858254NOS3c.1558G>C (p.Ala520Pro)
n.10G>C
c.940G>C (p.Ala314Pro)
7g.151001876G=CA1752441928NOS3c.1558G= (p.Ala520=)
n.10G=
c.940G= (p.Ala314=)
7g.151001876G>TCA369858253NOS3c.1558G>T (p.Ala520Ser)
n.10G>T
c.940G>T (p.Ala314Ser)
7g.151001877C>ACA369858255NOS3c.1559C>A (p.Ala520Glu)
n.11C>A
c.941C>A (p.Ala314Glu)
7g.151001877C=CA1752441942NOS3c.1559C= (p.Ala520=)
n.11C=
c.941C= (p.Ala314=)
7g.151001877C>GCA4567026NOS3c.1559C>G (p.Ala520Gly)
n.11C>G
c.941C>G (p.Ala314Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151001877C>TCA369858256NOS3c.1559C>T (p.Ala520Val)
n.11C>T
c.941C>T (p.Ala314Val)
 ClinVar dbSNP gnomAD v4 COSMIC
7g.151001878G>ACA4567027NOS3c.1560G>A (p.Ala520=)
n.12G>A
c.942G>A (p.Ala314=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151001878G>CCA169073912NOS3c.1560G>C (p.Ala520=)
n.12G>C
c.942G>C (p.Ala314=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151001878G=CA1752441950NOS3c.1560G= (p.Ala520=)
n.12G=
c.942G= (p.Ala314=)
7g.151001878G>TCA4567028NOS3c.1560G>T (p.Ala520=)
n.12G>T
c.942G>T (p.Ala314=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.151001879A=CA1752441972NOS3c.1561A= (p.Thr521=)
n.13A=
c.943A= (p.Thr315=)
7g.151001879A>CCA369858257NOS3c.1561A>C (p.Thr521Pro)
n.13A>C
c.943A>C (p.Thr315Pro)
7g.151001879A>GCA369858258NOS3c.1561A>G (p.Thr521Ala)
n.13A>G
c.943A>G (p.Thr315Ala)
 dbSNP gnomAD v2 gnomAD v4
7g.151001879A>TCA369858259NOS3c.1561A>T (p.Thr521Ser)
n.13A>T
c.943A>T (p.Thr315Ser)
7g.151001880C>ACA369858260NOS3c.1562C>A (p.Thr521Lys)
n.14C>A
c.944C>A (p.Thr315Lys)
7g.151001880C=CA1752441975NOS3c.1562C= (p.Thr521=)
n.14C=
c.944C= (p.Thr315=)
7g.151001880C>GCA369858261NOS3c.1562C>G (p.Thr521Arg)
n.14C>G
c.944C>G (p.Thr315Arg)
7g.151001880C>TCA369858262NOS3c.1562C>T (p.Thr521Ile)
n.14C>T
c.944C>T (p.Thr315Ile)
 dbSNP gnomAD v3 gnomAD v4
7g.151001881A>CCA458872108NOS3c.1563A>C (p.Thr521=)
n.15A>C
c.945A>C (p.Thr315=)
 gnomAD v4
7g.151001881A>GCA458872112NOS3c.1563A>G (p.Thr521=)
n.15A>G
c.945A>G (p.Thr315=)
7g.151001881A>TCA458872114NOS3c.1563A>T (p.Thr521=)
n.15A>T
c.945A>T (p.Thr315=)
7g.151001882A>CCA369858263NOS3c.1564A>C (p.Ile522Leu)
n.16A>C
c.946A>C (p.Ile316Leu)
7g.151001882A>GCA369858264NOS3c.1564A>G (p.Ile522Val)
n.16A>G
c.946A>G (p.Ile316Val)
7g.151001882A>TCA369858265NOS3c.1564A>T (p.Ile522Phe)
n.16A>T
c.946A>T (p.Ile316Phe)
7g.151001883T>ACA369858268NOS3c.1565T>A (p.Ile522Asn)
n.17T>A
c.947T>A (p.Ile316Asn)
7g.151001883T>CCA369858267NOS3c.1565T>C (p.Ile522Thr)
n.17T>C
c.947T>C (p.Ile316Thr)
7g.151001883T>GCA369858266NOS3c.1565T>G (p.Ile522Ser)
n.17T>G
c.947T>G (p.Ile316Ser)
7g.151001884C>ACA458872116NOS3c.1566C>A (p.Ile522=)
n.18C>A
c.948C>A (p.Ile316=)
7g.151001884C>GCA369858269NOS3c.1566C>G (p.Ile522Met)
n.18C>G
c.948C>G (p.Ile316Met)
 gnomAD v4
7g.151001884C>TCA458872118NOS3c.1566C>T (p.Ile522=)
n.18C>T
c.948C>T (p.Ile316=)
7g.151001885C>ACA369858270NOS3c.1567C>A (p.Leu523Met)
n.19C>A
c.949C>A (p.Leu317Met)
7g.151001885C=CA1752441979NOS3c.1567C= (p.Leu523=)
n.19C=
c.949C= (p.Leu317=)
7g.151001885C>GCA369858271NOS3c.1567C>G (p.Leu523Val)
n.19C>G
c.949C>G (p.Leu317Val)
7g.151001885C>TCA458872120NOS3c.1567C>T (p.Leu523=)
n.19C>T
c.949C>T (p.Leu317=)
 dbSNP gnomAD v4
7g.151001886T>ACA369858272NOS3c.1568T>A (p.Leu523Gln)
n.20T>A
c.950T>A (p.Leu317Gln)
7g.151001886T>CCA369858273NOS3c.1568T>C (p.Leu523Pro)
n.20T>C
c.950T>C (p.Leu317Pro)
7g.151001886T>GCA369858274NOS3c.1568T>G (p.Leu523Arg)
n.20T>G
c.950T>G (p.Leu317Arg)
7g.151001887G>ACA169073917NOS3c.1569G>A (p.Leu523=)
n.21G>A
c.951G>A (p.Leu317=)
 dbSNP gnomAD v2 gnomAD v4
7g.151001887G>CCA458872125NOS3c.1569G>C (p.Leu523=)
n.21G>C
c.951G>C (p.Leu317=)
 gnomAD v4
7g.151001887G=CA1752441984NOS3c.1569G= (p.Leu523=)
n.21G=
c.951G= (p.Leu317=)
7g.151001887G>TCA458872122NOS3c.1569G>T (p.Leu523=)
n.21G>T
c.951G>T (p.Leu317=)
 gnomAD v4
7g.151001888T>ACA369858275NOS3c.1570T>A (p.Tyr524Asn)
n.22T>A
c.952T>A (p.Tyr318Asn)
7g.151001888T>CCA369858276NOS3c.1570T>C (p.Tyr524His)
n.22T>C
c.952T>C (p.Tyr318His)
 gnomAD v4
7g.151001888T>GCA369858277NOS3c.1570T>G (p.Tyr524Asp)
n.22T>G
c.952T>G (p.Tyr318Asp)
7g.151001889A=CA1752441991NOS3c.1571A= (p.Tyr524=)
n.23A=
c.953A= (p.Tyr318=)
7g.151001889A>CCA369858278NOS3c.1571A>C (p.Tyr524Ser)
n.23A>C
c.953A>C (p.Tyr318Ser)
7g.151001889A>GCA369858279NOS3c.1571A>G (p.Tyr524Cys)
n.23A>G
c.953A>G (p.Tyr318Cys)
 dbSNP gnomAD v2 gnomAD v4
7g.151001889A>TCA369858280NOS3c.1571A>T (p.Tyr524Phe)
n.23A>T
c.953A>T (p.Tyr318Phe)
7g.151001890T>ACA369858281NOS3c.1572T>A (p.Tyr524Ter)
n.24T>A
c.954T>A (p.Tyr318Ter)
 gnomAD v4
7g.151001890T>CCA458872136NOS3c.1572T>C (p.Tyr524=)
n.24T>C
c.954T>C (p.Tyr318=)
7g.151001890T>GCA369858282NOS3c.1572T>G (p.Tyr524Ter)
n.24T>G
c.954T>G (p.Tyr318Ter)
7g.151001891G>ACA369858283NOS3c.1573G>A (p.Gly525Ser)
n.25G>A
c.955G>A (p.Gly319Ser)
7g.151001891G>CCA369858284NOS3c.1573G>C (p.Gly525Arg)
n.25G>C
c.955G>C (p.Gly319Arg)
7g.151001891G>TCA369858285NOS3c.1573G>T (p.Gly525Cys)
n.25G>T
c.955G>T (p.Gly319Cys)
7g.151001892G>ACA4567029NOS3c.1574G>A (p.Gly525Asp)
n.26G>A
c.956G>A (p.Gly319Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.151001892G>CCA369858286NOS3c.1574G>C (p.Gly525Ala)
n.26G>C
c.956G>C (p.Gly319Ala)
7g.151001892G=CA1752441996NOS3c.1574G= (p.Gly525=)
n.26G=
c.956G= (p.Gly319=)
7g.151001892G>TCA369858287NOS3c.1574G>T (p.Gly525Val)
n.26G>T
c.956G>T (p.Gly319Val)
7g.151001893C>ACA458872149NOS3c.1575C>A (p.Gly525=)
n.27C>A
c.957C>A (p.Gly319=)
7g.151001893C>GCA458872151NOS3c.1575C>G (p.Gly525=)
n.27C>G
c.957C>G (p.Gly319=)
7g.151001893C>TCA458872150NOS3c.1575C>T (p.Gly525=)
n.27C>T
c.957C>T (p.Gly319=)
7g.151001894T>ACA369858288NOS3c.1576T>A (p.Ser526Thr)
n.28T>A
c.958T>A (p.Ser320Thr)
7g.151001894T>CCA369858289NOS3c.1576T>C (p.Ser526Pro)
n.28T>C
c.958T>C (p.Ser320Pro)
7g.151001894T>GCA369858290NOS3c.1576T>G (p.Ser526Ala)
n.28T>G
c.958T>G (p.Ser320Ala)
7g.151001895C>ACA369858291NOS3c.1577C>A (p.Ser526Tyr)
n.29C>A
c.959C>A (p.Ser320Tyr)
7g.151001895C>GCA369858292NOS3c.1577C>G (p.Ser526Cys)
n.29C>G
c.959C>G (p.Ser320Cys)
7g.151001895C>TCA369858293NOS3c.1577C>T (p.Ser526Phe)
n.29C>T
c.959C>T (p.Ser320Phe)
 COSMIC
7g.151001896C>ACA458872154NOS3c.1578C>A (p.Ser526=)
n.30C>A
c.960C>A (p.Ser320=)
7g.151001896C=CA1752441999NOS3c.1578C= (p.Ser526=)
n.30C=
c.960C= (p.Ser320=)
7g.151001896C>GCA458872155NOS3c.1578C>G (p.Ser526=)
n.30C>G
c.960C>G (p.Ser320=)
7g.151001896C>TCA4567030NOS3c.1578C>T (p.Ser526=)
n.30C>T
c.960C>T (p.Ser320=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.151001897G>ACA4567031NOS3c.1579G>A (p.Glu527Lys)
n.31G>A
c.961G>A (p.Glu321Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151001897G>CCA369858294NOS3c.1579G>C (p.Glu527Gln)
n.31G>C
c.961G>C (p.Glu321Gln)
7g.151001897G=CA1752442011NOS3c.1579G= (p.Glu527=)
n.31G=
c.961G= (p.Glu321=)
7g.151001897G>TCA369858295NOS3c.1579G>T (p.Glu527Ter)
n.31G>T
c.961G>T (p.Glu321Ter)
7g.151001898A>CCA369858296NOS3c.1580A>C (p.Glu527Ala)
n.32A>C
c.962A>C (p.Glu321Ala)
7g.151001898A>GCA369858297NOS3c.1580A>G (p.Glu527Gly)
n.32A>G
c.962A>G (p.Glu321Gly)
7g.151001898A>TCA369858298NOS3c.1580A>T (p.Glu527Val)
n.32A>T
c.962A>T (p.Glu321Val)
7g.151001899G>ACA458872163NOS3c.1581G>A (p.Glu527=)
n.33G>A
c.963G>A (p.Glu321=)
 gnomAD v4
7g.151001899G>CCA369858299NOS3c.1581G>C (p.Glu527Asp)
n.33G>C
c.963G>C (p.Glu321Asp)
7g.151001899G>TCA369858300NOS3c.1581G>T (p.Glu527Asp)
n.33G>T
c.963G>T (p.Glu321Asp)
 gnomAD v4
7g.151001900A=CA1752442022NOS3c.1582A= (p.Thr528=)
n.34A=
c.964A= (p.Thr322=)
7g.151001900A>CCA369858301NOS3c.1582A>C (p.Thr528Pro)
n.34A>C
c.964A>C (p.Thr322Pro)
7g.151001900A>GCA369858302NOS3c.1582A>G (p.Thr528Ala)
n.34A>G
c.964A>G (p.Thr322Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151001900A>TCA369858303NOS3c.1582A>T (p.Thr528Ser)
n.34A>T
c.964A>T (p.Thr322Ser)
7g.151001901C>ACA369858304NOS3c.1583C>A (p.Thr528Asn)
n.35C>A
c.965C>A (p.Thr322Asn)
7g.151001901C=CA1752442029NOS3c.1583C= (p.Thr528=)
n.35C=
c.965C= (p.Thr322=)
7g.151001901C>GCA369858305NOS3c.1583C>G (p.Thr528Ser)
n.35C>G
c.965C>G (p.Thr322Ser)
7g.151001901C>TCA369858306NOS3c.1583C>T (p.Thr528Ile)
n.35C>T
c.965C>T (p.Thr322Ile)
 dbSNP
7g.151001902C>ACA458872168NOS3c.1584C>A (p.Thr528=)
n.36C>A
c.966C>A (p.Thr322=)
 dbSNP gnomAD v3 gnomAD v4
7g.151001902C=CA1752442034NOS3c.1584C= (p.Thr528=)
n.36C=
c.966C= (p.Thr322=)
7g.151001902C>GCA458872170NOS3c.1584C>G (p.Thr528=)
n.36C>G
c.966C>G (p.Thr322=)
7g.151001902C>TCA4567032NOS3c.1584C>T (p.Thr528=)
n.36C>T
c.966C>T (p.Thr322=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151001903G>ACA369858308NOS3c.1585G>A (p.Gly529Ser)
n.37G>A
c.967G>A (p.Gly323Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151001903G>CCA369858309NOS3c.1585G>C (p.Gly529Arg)
n.37G>C
c.967G>C (p.Gly323Arg)
7g.151001903G=CA1752442046NOS3c.1585G= (p.Gly529=)
n.37G=
c.967G= (p.Gly323=)
7g.151001903G>TCA369858307NOS3c.1585G>T (p.Gly529Cys)
n.37G>T
c.967G>T (p.Gly323Cys)
7g.151001904G>ACA369858311NOS3c.1586G>A (p.Gly529Asp)
n.38G>A
c.968G>A (p.Gly323Asp)
7g.151001904G>CCA369858310NOS3c.1586G>C (p.Gly529Ala)
n.38G>C
c.968G>C (p.Gly323Ala)
7g.151001904G>TCA369858312NOS3c.1586G>T (p.Gly529Val)
n.38G>T
c.968G>T (p.Gly323Val)
 gnomAD v4
7g.151001905C>ACA458872177NOS3c.1587C>A (p.Gly529=)
n.39C>A
c.969C>A (p.Gly323=)
7g.151001905C=CA1752442060NOS3c.1587C= (p.Gly529=)
n.39C=
c.969C= (p.Gly323=)
7g.151001905C>GCA458872178NOS3c.1587C>G (p.Gly529=)
n.39C>G
c.969C>G (p.Gly323=)
7g.151001905C>TCA4567033NOS3c.1587C>T (p.Gly529=)
n.39C>T
c.969C>T (p.Gly323=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.151001906C>ACA458872179NOS3c.1588C>A (p.Arg530=)
n.40C>A
c.970C>A (p.Arg324=)
 gnomAD v4
7g.151001906C=CA1752442066NOS3c.1588C= (p.Arg530=)
n.40C=
c.970C= (p.Arg324=)
7g.151001906C>GCA369858313NOS3c.1588C>G (p.Arg530Gly)
n.40C>G
c.970C>G (p.Arg324Gly)
 gnomAD v4
7g.151001906C>TCA4567034NOS3c.1588C>T (p.Arg530Trp)
n.40C>T
c.970C>T (p.Arg324Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151001907G>ACA4567035NOS3c.1589G>A (p.Arg530Gln)
n.41G>A
c.971G>A (p.Arg324Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151001907G>CCA369858314NOS3c.1589G>C (p.Arg530Pro)
n.41G>C
c.971G>C (p.Arg324Pro)
7g.151001907G=CA1752442070NOS3c.1589G= (p.Arg530=)
n.41G=
c.971G= (p.Arg324=)
7g.151001907G>TCA369858315NOS3c.1589G>T (p.Arg530Leu)
n.41G>T
c.971G>T (p.Arg324Leu)
 dbSNP
7g.151001908G>ACA458872183NOS3c.1590G>A (p.Arg530=)
n.42G>A
c.972G>A (p.Arg324=)
 dbSNP
7g.151001908G>CCA458872185NOS3c.1590G>C (p.Arg530=)
n.42G>C
c.972G>C (p.Arg324=)
7g.151001908G=CA1752442073NOS3c.1590G= (p.Arg530=)
n.42G=
c.972G= (p.Arg324=)
7g.151001908G>TCA458872182NOS3c.1590G>T (p.Arg530=)
n.42G>T
c.972G>T (p.Arg324=)
7g.151001909G>ACA4567036NOS3c.1591G>A (p.Ala531Thr)
n.43G>A
c.973G>A (p.Ala325Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151001909G>CCA369858316NOS3c.1591G>C (p.Ala531Pro)
n.43G>C
c.973G>C (p.Ala325Pro)
7g.151001909G=CA1752442081NOS3c.1591G= (p.Ala531=)
n.43G=
c.973G= (p.Ala325=)
7g.151001909G>TCA369858317NOS3c.1591G>T (p.Ala531Ser)
n.43G>T
c.973G>T (p.Ala325Ser)
7g.151001910C>ACA369858318NOS3c.1592C>A (p.Ala531Asp)
n.44C>A
c.974C>A (p.Ala325Asp)
7g.151001910C>GCA369858319NOS3c.1592C>G (p.Ala531Gly)
n.44C>G
c.974C>G (p.Ala325Gly)
7g.151001910C>TCA369858320NOS3c.1592C>T (p.Ala531Val)
n.44C>T
c.974C>T (p.Ala325Val)
 gnomAD v4
7g.151001911C>ACA458872188NOS3c.1593C>A (p.Ala531=)
n.45C>A
c.975C>A (p.Ala325=)
7g.151001911C>GCA458872190NOS3c.1593C>G (p.Ala531=)
n.45C>G
c.975C>G (p.Ala325=)
7g.151001911C>TCA458872189NOS3c.1593C>T (p.Ala531=)
n.45C>T
c.975C>T (p.Ala325=)
7g.151001912C>ACA369858321NOS3c.1594C>A (p.Gln532Lys)
n.46C>A
c.976C>A (p.Gln326Lys)
7g.151001912C=CA1752442089NOS3c.1594C= (p.Gln532=)
n.46C=
c.976C= (p.Gln326=)
7g.151001912C>GCA369858322NOS3c.1594C>G (p.Gln532Glu)
n.46C>G
c.976C>G (p.Gln326Glu)
7g.151001912C>TCA4567037NOS3c.1594C>T (p.Gln532Ter)
n.46C>T
c.976C>T (p.Gln326Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.151001913A>CCA369858323NOS3c.1595A>C (p.Gln532Pro)
n.47A>C
c.977A>C (p.Gln326Pro)
7g.151001913A>GCA369858325NOS3c.1595A>G (p.Gln532Arg)
n.47A>G
c.977A>G (p.Gln326Arg)
 gnomAD v4
7g.151001913A>TCA369858324NOS3c.1595A>T (p.Gln532Leu)
n.47A>T
c.977A>T (p.Gln326Leu)
7g.151001915_151001916delCA2548881658NOS3c.1597_1598del (p.Ser533LeufsTer14)
n.49_50del
c.979_980del (p.Ser327LeufsTer14)
7g.151001914G>ACA458872197NOS3c.1596G>A (p.Gln532=)
n.48G>A
c.978G>A (p.Gln326=)
7g.151001914G>CCA369858326NOS3c.1596G>C (p.Gln532His)
n.48G>C
c.978G>C (p.Gln326His)
 COSMIC
7g.151001914G>TCA369858327NOS3c.1596G>T (p.Gln532His)
n.48G>T
c.978G>T (p.Gln326His)
7g.151001915A=CA1752442098NOS3c.1597A= (p.Ser533=)
n.49A=
c.979A= (p.Ser327=)
7g.151001915A>CCA369858328NOS3c.1597A>C (p.Ser533Arg)
n.49A>C
c.979A>C (p.Ser327Arg)
7g.151001915A>GCA369858329NOS3c.1597A>G (p.Ser533Gly)
n.49A>G
c.979A>G (p.Ser327Gly)
7g.151001915A>TCA369858330NOS3c.1597A>T (p.Ser533Cys)
n.49A>T
c.979A>T (p.Ser327Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151001916G>ACA4567038NOS3c.1598G>A (p.Ser533Asn)
n.50G>A
c.980G>A (p.Ser327Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151001916G>CCA369858331NOS3c.1598G>C (p.Ser533Thr)
n.50G>C
c.980G>C (p.Ser327Thr)
7g.151001916G=CA1752442107NOS3c.1598G= (p.Ser533=)
n.50G=
c.980G= (p.Ser327=)
7g.151001916G>TCA369858332NOS3c.1598G>T (p.Ser533Ile)
n.50G>T
c.980G>T (p.Ser327Ile)
7g.151001917C>ACA369858333NOS3c.1599C>A (p.Ser533Arg)
n.51C>A
c.981C>A (p.Ser327Arg)
7g.151001917C>GCA369858334NOS3c.1599C>G (p.Ser533Arg)
n.51C>G
c.981C>G (p.Ser327Arg)
7g.151001917C>TCA458872204NOS3c.1599C>T (p.Ser533=)
n.51C>T
c.981C>T (p.Ser327=)
7g.151001917_151001920dupCA2695208885NOS3c.1599_1602dup (p.Ala535LeufsTer14)
n.51_54dup
c.981_984dup (p.Ala329LeufsTer14)
7g.151001918delCA2542783721NOS3c.1600del (p.Tyr534ThrfsTer?)
n.52del
c.982del (p.Tyr328ThrfsTer?)
7g.151001918T>ACA369858337NOS3c.1600T>A (p.Tyr534Asn)
n.52T>A
c.982T>A (p.Tyr328Asn)
7g.151001918T>CCA369858336NOS3c.1600T>C (p.Tyr534His)
n.52T>C
c.982T>C (p.Tyr328His)
7g.151001918T>GCA369858335NOS3c.1600T>G (p.Tyr534Asp)
n.52T>G
c.982T>G (p.Tyr328Asp)

Number of alleles fetched