Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.151001773_151001793delCA2685610678NOS3c.1503-48_1503-28del (n.1503-48_1503-28del)
c.885-48_885-28del (n.885-48_885-28del)
gnomAD v4
7g.151001786C>ACA2685610684NOS3c.1503-35C>A (n.1503-35C>A)
c.885-35C>A (n.885-35C>A)
gnomAD v4
7g.151001786C>TCA2685610686NOS3c.1503-35C>T (n.1503-35C>T)
c.885-35C>T (n.885-35C>T)
gnomAD v4
7g.151001787A>TCA2685610687NOS3c.1503-34A>T (n.1503-34A>T)
c.885-34A>T (n.885-34A>T)
gnomAD v4
7g.151001788C>ACA4567008NOS3c.1503-33C>A (n.1503-33C>A)
c.885-33C>A (n.885-33C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151001788C=CA1752441574NOS3c.1503-33C= (n.1503-33C=)
c.885-33C= (n.885-33C=)
7g.151001788C>GCA2685610689NOS3c.1503-33C>G (n.1503-33C>G)
c.885-33C>G (n.885-33C>G)
gnomAD v4
7g.151001790C>ACA2685610690NOS3c.1503-31C>A (n.1503-31C>A)
c.885-31C>A (n.885-31C>A)
gnomAD v4
7g.151001790C=CA1752441579NOS3c.1503-31C= (n.1503-31C=)
c.885-31C= (n.885-31C=)
7g.151001790C>GCA2685610691NOS3c.1503-31C>G (n.1503-31C>G)
c.885-31C>G (n.885-31C>G)
gnomAD v4
7g.151001790C>TCA4567009NOS3c.1503-31C>T (n.1503-31C>T)
c.885-31C>T (n.885-31C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151001791A=CA1752441586NOS3c.1503-30A= (n.1503-30A=)
c.885-30A= (n.885-30A=)
7g.151001791A>CCA2580595615NOS3c.1503-30A>C (n.1503-30A>C)
c.885-30A>C (n.885-30A>C)
7g.151001791A>GCA4567010NOS3c.1503-30A>G (n.1503-30A>G)
c.885-30A>G (n.885-30A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151001791A>TCA2580595614NOS3c.1503-30A>T (n.1503-30A>T)
c.885-30A>T (n.885-30A>T)
7g.151001792G>ACA4567011NOS3c.1503-29G>A (n.1503-29G>A)
c.885-29G>A (n.885-29G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151001792G=CA1752441597NOS3c.1503-29G= (n.1503-29G=)
c.885-29G= (n.885-29G=)
7g.151001793G>ACA2685610698NOS3c.1503-28G>A (n.1503-28G>A)
c.885-28G>A (n.885-28G>A)
gnomAD v4
7g.151001793G>TCA2685610700NOS3c.1503-28G>T (n.1503-28G>T)
c.885-28G>T (n.885-28G>T)
gnomAD v4
7g.151001795C>ACA579076121NOS3c.1503-26C>A (n.1503-26C>A)
c.885-26C>A (n.885-26C>A)
dbSNP gnomAD v2 gnomAD v4
7g.151001795C=CA1752441600NOS3c.1503-26C= (n.1503-26C=)
c.885-26C= (n.885-26C=)
7g.151001795C>TCA2685610702NOS3c.1503-26C>T (n.1503-26C>T)
c.885-26C>T (n.885-26C>T)
gnomAD v4
7g.151001796A=CA1752441606NOS3c.1503-25A= (n.1503-25A=)
c.885-25A= (n.885-25A=)
7g.151001796A>CCA2716058555NOS3c.1503-25A>C (n.1503-25A>C)
c.885-25A>C (n.885-25A>C)
dbSNP
7g.151001796A>GCA579076123NOS3c.1503-25A>G (n.1503-25A>G)
c.885-25A>G (n.885-25A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151001797C>TCA2685610705NOS3c.1503-24C>T (n.1503-24C>T)
c.885-24C>T (n.885-24C>T)
gnomAD v4
7g.151001798C>ACA4567012NOS3c.1503-23C>A (n.1503-23C>A)
c.885-23C>A (n.885-23C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151001798C=CA1752441617NOS3c.1503-23C= (n.1503-23C=)
c.885-23C= (n.885-23C=)
7g.151001798C>TCA4567013NOS3c.1503-23C>T (n.1503-23C>T)
c.885-23C>T (n.885-23C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.151001799C=CA1752441625NOS3c.1503-22C= (n.1503-22C=)
c.885-22C= (n.885-22C=)
7g.151001799C>GCA579076125NOS3c.1503-22C>G (n.1503-22C>G)
c.885-22C>G (n.885-22C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151001801C>TCA2530133695NOS3c.1503-20C>T (n.1503-20C>T)
c.885-20C>T (n.885-20C>T)
gnomAD v4
7g.151001802A=CA1752441626NOS3c.1503-19A= (n.1503-19A=)
c.885-19A= (n.885-19A=)
7g.151001802A>CCA1752441627NOS3c.1503-19A>C (n.1503-19A>C)
c.885-19A>C (n.885-19A>C)
dbSNP
7g.151001803C>ACA2685610707NOS3c.1503-18C>A (n.1503-18C>A)
c.885-18C>A (n.885-18C>A)
gnomAD v4
7g.151001803C>TCA2579063486NOS3c.1503-18C>T (n.1503-18C>T)
c.885-18C>T (n.885-18C>T)
gnomAD v4
7g.151001804A=CA1752441628NOS3c.1503-17A= (n.1503-17A=)
c.885-17A= (n.885-17A=)
7g.151001804A>CCA1752441629NOS3c.1503-17A>C (n.1503-17A>C)
c.885-17A>C (n.885-17A>C)
dbSNP gnomAD v4
7g.151001804A>GCA2685610710NOS3c.1503-17A>G (n.1503-17A>G)
c.885-17A>G (n.885-17A>G)
gnomAD v4
7g.151001804_151001805insTTCGACTCATTAAATTATGATAATCATATTTACCAAATGCCA2685610712NOS3c.1503-17_1503-16insTTCGACTCATTAAATTATGATAATCATATTTACCAAATGC (n.1503-17_1503-16insTTCGACTCATTAAATTATGATAATCATATTTACCAAATGC)
c.885-17_885-16insTTCGACTCATTAAATTATGATAATCATATTTACCAAATGC (n.885-17_885-16insTTCGACTCATTAAATTATGATAATCATATTTACCAAATGC)
gnomAD v4
7g.151001805C>ACA835227082NOS3c.1503-16C>A (n.1503-16C>A)
c.885-16C>A (n.885-16C>A)
dbSNP gnomAD v3 gnomAD v4
7g.151001805C=CA1752441631NOS3c.1503-16C= (n.1503-16C=)
c.885-16C= (n.885-16C=)
7g.151001805C>TCA2685610713NOS3c.1503-16C>T (n.1503-16C>T)
c.885-16C>T (n.885-16C>T)
gnomAD v4
7g.151001807_151001809dupCA2685610717NOS3c.1503-14_1503-12dup (n.1503-14_1503-12dup)
c.885-14_885-12dup (n.885-14_885-12dup)
gnomAD v4
7g.151001807T>ACA2685610718NOS3c.1503-14T>A (n.1503-14T>A)
c.885-14T>A (n.885-14T>A)
gnomAD v4
7g.151001807T>CCA4567014NOS3c.1503-14T>C (n.1503-14T>C)
c.885-14T>C (n.885-14T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151001807T=CA1752441639NOS3c.1503-14T= (n.1503-14T=)
c.885-14T= (n.885-14T=)
7g.151001808T>CCA2685610719NOS3c.1503-13T>C (n.1503-13T>C)
c.885-13T>C (n.885-13T>C)
gnomAD v4
7g.151001809C=CA1752441643NOS3c.1503-12C= (n.1503-12C=)
c.885-12C= (n.885-12C=)
7g.151001809C>TCA579076130NOS3c.1503-12C>T (n.1503-12C>T)
c.885-12C>T (n.885-12C>T)
dbSNP gnomAD v2 gnomAD v4
7g.151001810_151001816dupCA2685610722NOS3c.1503-11_1503-5dup (n.1503-11_1503-5dup)
c.885-11_885-5dup (n.885-11_885-5dup)
gnomAD v4
7g.151001811T>CCA2685610725NOS3c.1503-10T>C (n.1503-10T>C)
c.885-10T>C (n.885-10T>C)
gnomAD v4
7g.151001812C>GCA2716209166NOS3c.1503-9C>G (n.1503-9C>G)
c.885-9C>G (n.885-9C>G)
dbSNP
7g.151001813_151001814delinsTCCA1752441645NOS3c.1503-8_1503-7delinsTC (n.1503-8_1503-7delinsTC)
c.885-8_885-7delinsTC (n.885-8_885-7delinsTC)
7g.151001814C=CA1752441648NOS3c.1503-7C= (n.1503-7C=)
c.885-7C= (n.885-7C=)
7g.151001814C>TCA835227091NOS3c.1503-7C>T (n.1503-7C>T)
c.885-7C>T (n.885-7C>T)
dbSNP gnomAD v4
7g.151001816delCA579076131NOS3c.1503-5del (n.1503-5del)
c.885-5del (n.885-5del)
dbSNP gnomAD v2 gnomAD v4
7g.151001815C>ACA2685610732NOS3c.1503-6C>A (n.1503-6C>A)
c.885-6C>A (n.885-6C>A)
gnomAD v4
7g.151001815C>TCA2685610733NOS3c.1503-6C>T (n.1503-6C>T)
c.885-6C>T (n.885-6C>T)
gnomAD v4
7g.151001816C>ACA579076133NOS3c.1503-5C>A (n.1503-5C>A)
c.885-5C>A (n.885-5C>A)
dbSNP gnomAD v2
7g.151001816C=CA1752441653NOS3c.1503-5C= (n.1503-5C=)
c.885-5C= (n.885-5C=)
7g.151001816C>TCA4567015NOS3c.1503-5C>T (n.1503-5C>T)
c.885-5C>T (n.885-5C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.151001817G>ACA4567016NOS3c.1503-4G>A (n.1503-4G>A)
c.885-4G>A (n.885-4G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151001817G>CCA1752441671NOS3c.1503-4G>C (n.1503-4G>C)
c.885-4G>C (n.885-4G>C)
dbSNP
7g.151001817G=CA1752441666NOS3c.1503-4G= (n.1503-4G=)
c.885-4G= (n.885-4G=)
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)

Number of alleles fetched