Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.151001773_151001793del | CA2685610678 | NOS3 | c.1503-48_1503-28del (n.1503-48_1503-28del) c.885-48_885-28del (n.885-48_885-28del) | gnomAD v4 |
7 | g.151001786C>A | CA2685610684 | NOS3 | c.1503-35C>A (n.1503-35C>A) c.885-35C>A (n.885-35C>A) | gnomAD v4 |
7 | g.151001786C>T | CA2685610686 | NOS3 | c.1503-35C>T (n.1503-35C>T) c.885-35C>T (n.885-35C>T) | gnomAD v4 |
7 | g.151001787A>T | CA2685610687 | NOS3 | c.1503-34A>T (n.1503-34A>T) c.885-34A>T (n.885-34A>T) | gnomAD v4 |
7 | g.151001788C>A | CA4567008 | NOS3 | c.1503-33C>A (n.1503-33C>A) c.885-33C>A (n.885-33C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151001788C= | CA1752441574 | NOS3 | c.1503-33C= (n.1503-33C=) c.885-33C= (n.885-33C=) | |
7 | g.151001788C>G | CA2685610689 | NOS3 | c.1503-33C>G (n.1503-33C>G) c.885-33C>G (n.885-33C>G) | gnomAD v4 |
7 | g.151001790C>A | CA2685610690 | NOS3 | c.1503-31C>A (n.1503-31C>A) c.885-31C>A (n.885-31C>A) | gnomAD v4 |
7 | g.151001790C= | CA1752441579 | NOS3 | c.1503-31C= (n.1503-31C=) c.885-31C= (n.885-31C=) | |
7 | g.151001790C>G | CA2685610691 | NOS3 | c.1503-31C>G (n.1503-31C>G) c.885-31C>G (n.885-31C>G) | gnomAD v4 |
7 | g.151001790C>T | CA4567009 | NOS3 | c.1503-31C>T (n.1503-31C>T) c.885-31C>T (n.885-31C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151001791A= | CA1752441586 | NOS3 | c.1503-30A= (n.1503-30A=) c.885-30A= (n.885-30A=) | |
7 | g.151001791A>C | CA2580595615 | NOS3 | c.1503-30A>C (n.1503-30A>C) c.885-30A>C (n.885-30A>C) | |
7 | g.151001791A>G | CA4567010 | NOS3 | c.1503-30A>G (n.1503-30A>G) c.885-30A>G (n.885-30A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151001791A>T | CA2580595614 | NOS3 | c.1503-30A>T (n.1503-30A>T) c.885-30A>T (n.885-30A>T) | |
7 | g.151001792G>A | CA4567011 | NOS3 | c.1503-29G>A (n.1503-29G>A) c.885-29G>A (n.885-29G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151001792G= | CA1752441597 | NOS3 | c.1503-29G= (n.1503-29G=) c.885-29G= (n.885-29G=) | |
7 | g.151001793G>A | CA2685610698 | NOS3 | c.1503-28G>A (n.1503-28G>A) c.885-28G>A (n.885-28G>A) | gnomAD v4 |
7 | g.151001793G>T | CA2685610700 | NOS3 | c.1503-28G>T (n.1503-28G>T) c.885-28G>T (n.885-28G>T) | gnomAD v4 |
7 | g.151001795C>A | CA579076121 | NOS3 | c.1503-26C>A (n.1503-26C>A) c.885-26C>A (n.885-26C>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.151001795C= | CA1752441600 | NOS3 | c.1503-26C= (n.1503-26C=) c.885-26C= (n.885-26C=) | |
7 | g.151001795C>T | CA2685610702 | NOS3 | c.1503-26C>T (n.1503-26C>T) c.885-26C>T (n.885-26C>T) | gnomAD v4 |
7 | g.151001796A= | CA1752441606 | NOS3 | c.1503-25A= (n.1503-25A=) c.885-25A= (n.885-25A=) | |
7 | g.151001796A>C | CA2716058555 | NOS3 | c.1503-25A>C (n.1503-25A>C) c.885-25A>C (n.885-25A>C) | dbSNP |
7 | g.151001796A>G | CA579076123 | NOS3 | c.1503-25A>G (n.1503-25A>G) c.885-25A>G (n.885-25A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151001797C>T | CA2685610705 | NOS3 | c.1503-24C>T (n.1503-24C>T) c.885-24C>T (n.885-24C>T) | gnomAD v4 |
7 | g.151001798C>A | CA4567012 | NOS3 | c.1503-23C>A (n.1503-23C>A) c.885-23C>A (n.885-23C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151001798C= | CA1752441617 | NOS3 | c.1503-23C= (n.1503-23C=) c.885-23C= (n.885-23C=) | |
7 | g.151001798C>T | CA4567013 | NOS3 | c.1503-23C>T (n.1503-23C>T) c.885-23C>T (n.885-23C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151001799C= | CA1752441625 | NOS3 | c.1503-22C= (n.1503-22C=) c.885-22C= (n.885-22C=) | |
7 | g.151001799C>G | CA579076125 | NOS3 | c.1503-22C>G (n.1503-22C>G) c.885-22C>G (n.885-22C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151001801C>T | CA2530133695 | NOS3 | c.1503-20C>T (n.1503-20C>T) c.885-20C>T (n.885-20C>T) | gnomAD v4 |
7 | g.151001802A= | CA1752441626 | NOS3 | c.1503-19A= (n.1503-19A=) c.885-19A= (n.885-19A=) | |
7 | g.151001802A>C | CA1752441627 | NOS3 | c.1503-19A>C (n.1503-19A>C) c.885-19A>C (n.885-19A>C) | dbSNP |
7 | g.151001803C>A | CA2685610707 | NOS3 | c.1503-18C>A (n.1503-18C>A) c.885-18C>A (n.885-18C>A) | gnomAD v4 |
7 | g.151001803C>T | CA2579063486 | NOS3 | c.1503-18C>T (n.1503-18C>T) c.885-18C>T (n.885-18C>T) | gnomAD v4 |
7 | g.151001804A= | CA1752441628 | NOS3 | c.1503-17A= (n.1503-17A=) c.885-17A= (n.885-17A=) | |
7 | g.151001804A>C | CA1752441629 | NOS3 | c.1503-17A>C (n.1503-17A>C) c.885-17A>C (n.885-17A>C) | dbSNP gnomAD v4 |
7 | g.151001804A>G | CA2685610710 | NOS3 | c.1503-17A>G (n.1503-17A>G) c.885-17A>G (n.885-17A>G) | gnomAD v4 |
7 | g.151001804_151001805insTTCGACTCATTAAATTATGATAATCATATTTACCAAATGC | CA2685610712 | NOS3 | c.1503-17_1503-16insTTCGACTCATTAAATTATGATAATCATATTTACCAAATGC (n.1503-17_1503-16insTTCGACTCATTAAATTATGATAATCATATTTACCAAATGC) c.885-17_885-16insTTCGACTCATTAAATTATGATAATCATATTTACCAAATGC (n.885-17_885-16insTTCGACTCATTAAATTATGATAATCATATTTACCAAATGC) | gnomAD v4 |
7 | g.151001805C>A | CA835227082 | NOS3 | c.1503-16C>A (n.1503-16C>A) c.885-16C>A (n.885-16C>A) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.151001805C= | CA1752441631 | NOS3 | c.1503-16C= (n.1503-16C=) c.885-16C= (n.885-16C=) | |
7 | g.151001805C>T | CA2685610713 | NOS3 | c.1503-16C>T (n.1503-16C>T) c.885-16C>T (n.885-16C>T) | gnomAD v4 |
7 | g.151001807_151001809dup | CA2685610717 | NOS3 | c.1503-14_1503-12dup (n.1503-14_1503-12dup) c.885-14_885-12dup (n.885-14_885-12dup) | gnomAD v4 |
7 | g.151001807T>A | CA2685610718 | NOS3 | c.1503-14T>A (n.1503-14T>A) c.885-14T>A (n.885-14T>A) | gnomAD v4 |
7 | g.151001807T>C | CA4567014 | NOS3 | c.1503-14T>C (n.1503-14T>C) c.885-14T>C (n.885-14T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151001807T= | CA1752441639 | NOS3 | c.1503-14T= (n.1503-14T=) c.885-14T= (n.885-14T=) | |
7 | g.151001808T>C | CA2685610719 | NOS3 | c.1503-13T>C (n.1503-13T>C) c.885-13T>C (n.885-13T>C) | gnomAD v4 |
7 | g.151001809C= | CA1752441643 | NOS3 | c.1503-12C= (n.1503-12C=) c.885-12C= (n.885-12C=) | |
7 | g.151001809C>T | CA579076130 | NOS3 | c.1503-12C>T (n.1503-12C>T) c.885-12C>T (n.885-12C>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.151001810_151001816dup | CA2685610722 | NOS3 | c.1503-11_1503-5dup (n.1503-11_1503-5dup) c.885-11_885-5dup (n.885-11_885-5dup) | gnomAD v4 |
7 | g.151001811T>C | CA2685610725 | NOS3 | c.1503-10T>C (n.1503-10T>C) c.885-10T>C (n.885-10T>C) | gnomAD v4 |
7 | g.151001812C>G | CA2716209166 | NOS3 | c.1503-9C>G (n.1503-9C>G) c.885-9C>G (n.885-9C>G) | dbSNP |
7 | g.151001813_151001814delinsTC | CA1752441645 | NOS3 | c.1503-8_1503-7delinsTC (n.1503-8_1503-7delinsTC) c.885-8_885-7delinsTC (n.885-8_885-7delinsTC) | |
7 | g.151001814C= | CA1752441648 | NOS3 | c.1503-7C= (n.1503-7C=) c.885-7C= (n.885-7C=) | |
7 | g.151001814C>T | CA835227091 | NOS3 | c.1503-7C>T (n.1503-7C>T) c.885-7C>T (n.885-7C>T) | dbSNP gnomAD v4 |
7 | g.151001816del | CA579076131 | NOS3 | c.1503-5del (n.1503-5del) c.885-5del (n.885-5del) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.151001815C>A | CA2685610732 | NOS3 | c.1503-6C>A (n.1503-6C>A) c.885-6C>A (n.885-6C>A) | gnomAD v4 |
7 | g.151001815C>T | CA2685610733 | NOS3 | c.1503-6C>T (n.1503-6C>T) c.885-6C>T (n.885-6C>T) | gnomAD v4 |
7 | g.151001816C>A | CA579076133 | NOS3 | c.1503-5C>A (n.1503-5C>A) c.885-5C>A (n.885-5C>A) | dbSNP gnomAD v2 |
7 | g.151001816C= | CA1752441653 | NOS3 | c.1503-5C= (n.1503-5C=) c.885-5C= (n.885-5C=) | |
7 | g.151001816C>T | CA4567015 | NOS3 | c.1503-5C>T (n.1503-5C>T) c.885-5C>T (n.885-5C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.151001817G>A | CA4567016 | NOS3 | c.1503-4G>A (n.1503-4G>A) c.885-4G>A (n.885-4G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151001817G>C | CA1752441671 | NOS3 | c.1503-4G>C (n.1503-4G>C) c.885-4G>C (n.885-4G>C) | dbSNP |
7 | g.151001817G= | CA1752441666 | NOS3 | c.1503-4G= (n.1503-4G=) c.885-4G= (n.885-4G=) | |
7 | g.151001819A>C | CA369857429 | NOS3 | c.1503-2A>C (n.1503-2A>C) c.885-2A>C (n.885-2A>C) | |
7 | g.151001819A>G | CA369857431 | NOS3 | c.1503-2A>G (n.1503-2A>G) c.885-2A>G (n.885-2A>G) | |
7 | g.151001819A>T | CA369857433 | NOS3 | c.1503-2A>T (n.1503-2A>T) c.885-2A>T (n.885-2A>T) | |
7 | g.151001820G>A | CA369857437 | NOS3 | c.1503-1G>A (n.1503-1G>A) c.885-1G>A (n.885-1G>A) | |
7 | g.151001820G>C | CA369857439 | NOS3 | c.1503-1G>C (n.1503-1G>C) c.885-1G>C (n.885-1G>C) | |
7 | g.151001820G>T | CA369857441 | NOS3 | c.1503-1G>T (n.1503-1G>T) c.885-1G>T (n.885-1G>T) | |
7 | g.151001821C>A | CA369857443 | NOS3 | c.1503C>A (p.Asn501Lys) c.885C>A (p.Asn295Lys) | |
7 | g.151001821C= | CA1752441677 | NOS3 | c.1503C= (p.Asn501=) c.885C= (p.Asn295=) | |
7 | g.151001821C>G | CA369857445 | NOS3 | c.1503C>G (p.Asn501Lys) c.885C>G (p.Asn295Lys) | |
7 | g.151001821C>T | CA4567017 | NOS3 | c.1503C>T (p.Asn501=) c.885C>T (p.Asn295=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.151001822G>A | CA369857449 | NOS3 | c.1504G>A (p.Ala502Thr) c.886G>A (p.Ala296Thr) | gnomAD v4 |
7 | g.151001822G>C | CA369857455 | NOS3 | c.1504G>C (p.Ala502Pro) c.886G>C (p.Ala296Pro) | |
7 | g.151001822G= | CA1752441698 | NOS3 | c.1504G= (p.Ala502=) c.886G= (p.Ala296=) | |
7 | g.151001822G>T | CA369857452 | NOS3 | c.1504G>T (p.Ala502Ser) c.886G>T (p.Ala296Ser) | dbSNP gnomAD v2 |
7 | g.151001823C>A | CA369857458 | NOS3 | c.1505C>A (p.Ala502Asp) c.887C>A (p.Ala296Asp) | |
7 | g.151001823C>G | CA369857463 | NOS3 | c.1505C>G (p.Ala502Gly) c.887C>G (p.Ala296Gly) | |
7 | g.151001823C>T | CA369857460 | NOS3 | c.1505C>T (p.Ala502Val) c.887C>T (p.Ala296Val) | |
7 | g.151001824C>A | CA458649433 | NOS3 | c.1506C>A (p.Ala502=) c.888C>A (p.Ala296=) | |
7 | g.151001824C= | CA1752441716 | NOS3 | c.1506C= (p.Ala502=) c.888C= (p.Ala296=) | |
7 | g.151001824C>G | CA458649432 | NOS3 | c.1506C>G (p.Ala502=) c.888C>G (p.Ala296=) | gnomAD v4 |
7 | g.151001824C>T | CA458649435 | NOS3 | c.1506C>T (p.Ala502=) c.888C>T (p.Ala296=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.151001825G>A | CA4567018 | NOS3 | c.1507G>A (p.Val503Met) c.889G>A (p.Val297Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151001825G>C | CA369857466 | NOS3 | c.1507G>C (p.Val503Leu) c.889G>C (p.Val297Leu) | |
7 | g.151001825G= | CA1752441722 | NOS3 | c.1507G= (p.Val503=) c.889G= (p.Val297=) | |
7 | g.151001825G>T | CA369857468 | NOS3 | c.1507G>T (p.Val503Leu) c.889G>T (p.Val297Leu) | |
7 | g.151001826T>A | CA369857472 | NOS3 | c.1508T>A (p.Val503Glu) c.890T>A (p.Val297Glu) | |
7 | g.151001826T>C | CA369857474 | NOS3 | c.1508T>C (p.Val503Ala) c.890T>C (p.Val297Ala) | dbSNP |
7 | g.151001826T>G | CA369857476 | NOS3 | c.1508T>G (p.Val503Gly) c.890T>G (p.Val297Gly) | |
7 | g.151001826T= | CA1752441731 | NOS3 | c.1508T= (p.Val503=) c.890T= (p.Val297=) | |
7 | g.151001827G>A | CA458649438 | NOS3 | c.1509G>A (p.Val503=) c.891G>A (p.Val297=) | |
7 | g.151001827G>C | CA458649439 | NOS3 | c.1509G>C (p.Val503=) c.891G>C (p.Val297=) | |
7 | g.151001827G>T | CA458649441 | NOS3 | c.1509G>T (p.Val503=) c.891G>T (p.Val297=) | |
7 | g.151001828A>C | CA369857477 | NOS3 | c.1510A>C (p.Lys504Gln) c.892A>C (p.Lys298Gln) | |
7 | g.151001828A>G | CA369857478 | NOS3 | c.1510A>G (p.Lys504Glu) c.892A>G (p.Lys298Glu) | |
7 | g.151001828A>T | CA369857481 | NOS3 | c.1510A>T (p.Lys504Ter) c.892A>T (p.Lys298Ter) | gnomAD v3 gnomAD v4 |
7 | g.151001829A= | CA1752441739 | NOS3 | c.1511A= (p.Lys504=) c.893A= (p.Lys298=) | |
7 | g.151001829A>C | CA369857484 | NOS3 | c.1511A>C (p.Lys504Thr) c.893A>C (p.Lys298Thr) | gnomAD v4 |
7 | g.151001829A>G | CA369857485 | NOS3 | c.1511A>G (p.Lys504Arg) c.893A>G (p.Lys298Arg) | gnomAD v4 |
7 | g.151001829A>T | CA369857487 | NOS3 | c.1511A>T (p.Lys504Met) c.893A>T (p.Lys298Met) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.151001830G>A | CA458649444 | NOS3 | c.1512G>A (p.Lys504=) c.894G>A (p.Lys298=) | |
7 | g.151001830G>C | CA369857490 | NOS3 | c.1512G>C (p.Lys504Asn) c.894G>C (p.Lys298Asn) | |
7 | g.151001830G>T | CA369857491 | NOS3 | c.1512G>T (p.Lys504Asn) c.894G>T (p.Lys298Asn) | |
7 | g.151001831A= | CA1752441746 | NOS3 | c.1513A= (p.Ile505=) c.895A= (p.Ile299=) | |
7 | g.151001831A>C | CA369857494 | NOS3 | c.1513A>C (p.Ile505Leu) c.895A>C (p.Ile299Leu) | |
7 | g.151001831A>G | CA369857496 | NOS3 | c.1513A>G (p.Ile505Val) c.895A>G (p.Ile299Val) | |
7 | g.151001831A>T | CA369857498 | NOS3 | c.1513A>T (p.Ile505Phe) c.895A>T (p.Ile299Phe) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.151001832T>A | CA369857499 | NOS3 | c.1514T>A (p.Ile505Asn) c.896T>A (p.Ile299Asn) | |
7 | g.151001832T>C | CA369857501 | NOS3 | c.1514T>C (p.Ile505Thr) c.896T>C (p.Ile299Thr) | |
7 | g.151001832T>G | CA369857503 | NOS3 | c.1514T>G (p.Ile505Ser) c.896T>G (p.Ile299Ser) | |
7 | g.151001833C>A | CA458649447 | NOS3 | c.1515C>A (p.Ile505=) c.897C>A (p.Ile299=) | |
7 | g.151001833C= | CA1752441758 | NOS3 | c.1515C= (p.Ile505=) c.897C= (p.Ile299=) | |
7 | g.151001833C>G | CA369857505 | NOS3 | c.1515C>G (p.Ile505Met) c.897C>G (p.Ile299Met) | |
7 | g.151001833C>T | CA458649448 | NOS3 | c.1515C>T (p.Ile505=) c.897C>T (p.Ile299=) | dbSNP gnomAD v4 |
7 | g.151001834T>A | CA369857507 | NOS3 | c.1516T>A (p.Ser506Thr) c.898T>A (p.Ser300Thr) | |
7 | g.151001834T>C | CA369857510 | NOS3 | c.1516T>C (p.Ser506Pro) c.898T>C (p.Ser300Pro) | |
7 | g.151001834T>G | CA369857512 | NOS3 | c.1516T>G (p.Ser506Ala) c.898T>G (p.Ser300Ala) | |
7 | g.151001835C>A | CA369857519 | NOS3 | c.1517C>A (p.Ser506Tyr) c.899C>A (p.Ser300Tyr) | |
7 | g.151001835C= | CA1752441765 | NOS3 | c.1517C= (p.Ser506=) c.899C= (p.Ser300=) | |
7 | g.151001835C>G | CA369857517 | NOS3 | c.1517C>G (p.Ser506Cys) c.899C>G (p.Ser300Cys) | |
7 | g.151001835C>T | CA4567019 | NOS3 | c.1517C>T (p.Ser506Phe) c.899C>T (p.Ser300Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151001836C>A | CA458649452 | NOS3 | c.1518C>A (p.Ser506=) c.900C>A (p.Ser300=) | |
7 | g.151001836C= | CA1752441772 | NOS3 | c.1518C= (p.Ser506=) c.900C= (p.Ser300=) | |
7 | g.151001836C>G | CA458649453 | NOS3 | c.1518C>G (p.Ser506=) c.900C>G (p.Ser300=) | |
7 | g.151001836C>T | CA4567020 | NOS3 | c.1518C>T (p.Ser506=) c.900C>T (p.Ser300=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.151001837G>A | CA369857524 | NOS3 | c.1519G>A (p.Ala507Thr) c.901G>A (p.Ala301Thr) | dbSNP gnomAD v4 |
7 | g.151001837G>C | CA369857526 | NOS3 | c.1519G>C (p.Ala507Pro) c.901G>C (p.Ala301Pro) | |
7 | g.151001837G= | CA1752441786 | NOS3 | c.1519G= (p.Ala507=) c.901G= (p.Ala301=) | |
7 | g.151001837G>T | CA369857528 | NOS3 | c.1519G>T (p.Ala507Ser) c.901G>T (p.Ala301Ser) | |
7 | g.151001838C>A | CA369857531 | NOS3 | c.1520C>A (p.Ala507Asp) c.902C>A (p.Ala301Asp) | |
7 | g.151001838C>G | CA369857533 | NOS3 | c.1520C>G (p.Ala507Gly) c.902C>G (p.Ala301Gly) | |
7 | g.151001838C>T | CA369857535 | NOS3 | c.1520C>T (p.Ala507Val) c.902C>T (p.Ala301Val) | |
7 | g.151001839C>A | CA458649455 | NOS3 | c.1521C>A (p.Ala507=) c.903C>A (p.Ala301=) | |
7 | g.151001839C>G | CA458649456 | NOS3 | c.1521C>G (p.Ala507=) c.903C>G (p.Ala301=) | |
7 | g.151001839C>T | CA458649457 | NOS3 | c.1521C>T (p.Ala507=) c.903C>T (p.Ala301=) | |
7 | g.151001840T>A | CA369857539 | NOS3 | c.1522T>A (p.Ser508Thr) c.904T>A (p.Ser302Thr) | |
7 | g.151001840T>C | CA369857541 | NOS3 | c.1522T>C (p.Ser508Pro) c.904T>C (p.Ser302Pro) | |
7 | g.151001840T>G | CA369857543 | NOS3 | c.1522T>G (p.Ser508Ala) c.904T>G (p.Ser302Ala) | |
7 | g.151001841C>A | CA369858178 | NOS3 | c.1523C>A (p.Ser508Ter) c.905C>A (p.Ser302Ter) | |
7 | g.151001841C>G | CA369858179 | NOS3 | c.1523C>G (p.Ser508Trp) c.905C>G (p.Ser302Trp) | |
7 | g.151001841C>T | CA369858180 | NOS3 | c.1523C>T (p.Ser508Leu) c.905C>T (p.Ser302Leu) | |
7 | g.151001842G>A | CA169073899 | NOS3 | c.1524G>A (p.Ser508=) c.906G>A (p.Ser302=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.151001842G>C | CA458871987 | NOS3 | c.1524G>C (p.Ser508=) c.906G>C (p.Ser302=) | |
7 | g.151001842G= | CA1752441797 | NOS3 | c.1524G= (p.Ser508=) c.906G= (p.Ser302=) | |
7 | g.151001842G>T | CA4567021 | NOS3 | c.1524G>T (p.Ser508=) c.906G>T (p.Ser302=) | dbSNP ExAC gnomAD v2 |
7 | g.151001843C>A | CA369858181 | NOS3 | c.1525C>A (p.Leu509Ile) c.907C>A (p.Leu303Ile) | |
7 | g.151001843C>G | CA369858182 | NOS3 | c.1525C>G (p.Leu509Val) c.907C>G (p.Leu303Val) | |
7 | g.151001843C>T | CA369858183 | NOS3 | c.1525C>T (p.Leu509Phe) c.907C>T (p.Leu303Phe) | |
7 | g.151001844T>A | CA369858184 | NOS3 | c.1526T>A (p.Leu509His) c.908T>A (p.Leu303His) | |
7 | g.151001844T>C | CA369858185 | NOS3 | c.1526T>C (p.Leu509Pro) c.908T>C (p.Leu303Pro) | |
7 | g.151001844T>G | CA369858186 | NOS3 | c.1526T>G (p.Leu509Arg) c.908T>G (p.Leu303Arg) | |
7 | g.151001845C>A | CA458872000 | NOS3 | c.1527C>A (p.Leu509=) c.909C>A (p.Leu303=) | |
7 | g.151001845C= | CA1752441802 | NOS3 | c.1527C= (p.Leu509=) c.909C= (p.Leu303=) | |
7 | g.151001845C>G | CA458871994 | NOS3 | c.1527C>G (p.Leu509=) c.909C>G (p.Leu303=) | |
7 | g.151001845C>T | CA458871992 | NOS3 | c.1527C>T (p.Leu509=) c.909C>T (p.Leu303=) | dbSNP |
7 | g.151001846A= | CA1752441806 | NOS3 | c.1528A= (p.Met510=) c.910A= (p.Met304=) | |
7 | g.151001846A>C | CA369858187 | NOS3 | c.1528A>C (p.Met510Leu) c.910A>C (p.Met304Leu) | |
7 | g.151001846A>G | CA369858188 | NOS3 | c.1528A>G (p.Met510Val) c.910A>G (p.Met304Val) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.151001846A>T | CA369858189 | NOS3 | c.1528A>T (p.Met510Leu) c.910A>T (p.Met304Leu) | |
7 | g.151001847T>A | CA369858190 | NOS3 | c.1529T>A (p.Met510Lys) c.911T>A (p.Met304Lys) | |
7 | g.151001847T>C | CA369858191 | NOS3 | c.1529T>C (p.Met510Thr) c.911T>C (p.Met304Thr) | gnomAD v4 COSMIC |
7 | g.151001847T>G | CA369858192 | NOS3 | c.1529T>G (p.Met510Arg) c.911T>G (p.Met304Arg) | gnomAD v4 |
7 | g.151001848G>A | CA369858194 | NOS3 | c.1530G>A (p.Met510Ile) c.912G>A (p.Met304Ile) | gnomAD v4 |
7 | g.151001848G>C | CA369858195 | NOS3 | c.1530G>C (p.Met510Ile) c.912G>C (p.Met304Ile) | |
7 | g.151001848G>T | CA369858193 | NOS3 | c.1530G>T (p.Met510Ile) c.912G>T (p.Met304Ile) | COSMIC |
7 | g.151001849G>A | CA369858197 | NOS3 | c.1531G>A (p.Gly511Ser) c.913G>A (p.Gly305Ser) | gnomAD v4 |
7 | g.151001849G>C | CA369858196 | NOS3 | c.1531G>C (p.Gly511Arg) c.913G>C (p.Gly305Arg) | |
7 | g.151001849G>T | CA369858198 | NOS3 | c.1531G>T (p.Gly511Cys) c.913G>T (p.Gly305Cys) | |
7 | g.151001850G>A | CA369858199 | NOS3 | c.1532G>A (p.Gly511Asp) c.914G>A (p.Gly305Asp) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.151001850G>C | CA369858200 | NOS3 | c.1532G>C (p.Gly511Ala) c.914G>C (p.Gly305Ala) | |
7 | g.151001850G= | CA1752441810 | NOS3 | c.1532G= (p.Gly511=) c.914G= (p.Gly305=) | |
7 | g.151001850G>T | CA369858201 | NOS3 | c.1532G>T (p.Gly511Val) c.914G>T (p.Gly305Val) | |
7 | g.151001851C>A | CA458872015 | NOS3 | c.1533C>A (p.Gly511=) c.915C>A (p.Gly305=) | |
7 | g.151001851C>G | CA458872019 | NOS3 | c.1533C>G (p.Gly511=) c.915C>G (p.Gly305=) | gnomAD v4 |
7 | g.151001851C>T | CA458872018 | NOS3 | c.1533C>T (p.Gly511=) c.915C>T (p.Gly305=) | |
7 | g.151001852A>C | CA369858202 | NOS3 | c.1534A>C (p.Thr512Pro) c.916A>C (p.Thr306Pro) | |
7 | g.151001852A>G | CA369858203 | NOS3 | c.1534A>G (p.Thr512Ala) c.916A>G (p.Thr306Ala) | |
7 | g.151001852A>T | CA369858204 | NOS3 | c.1534A>T (p.Thr512Ser) c.916A>T (p.Thr306Ser) | |
7 | g.151001853C>A | CA369858205 | NOS3 | c.1535C>A (p.Thr512Lys) c.917C>A (p.Thr306Lys) | |
7 | g.151001853C= | CA1752441846 | NOS3 | c.1535C= (p.Thr512=) c.917C= (p.Thr306=) | |
7 | g.151001853C>G | CA369858206 | NOS3 | c.1535C>G (p.Thr512Arg) c.917C>G (p.Thr306Arg) | |
7 | g.151001853C>T | CA4567022 | NOS3 | c.1535C>T (p.Thr512Met) c.917C>T (p.Thr306Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151001854G>A | CA458872020 | NOS3 | c.1536G>A (p.Thr512=) c.918G>A (p.Thr306=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151001854G>C | CA458872021 | NOS3 | c.1536G>C (p.Thr512=) c.918G>C (p.Thr306=) | gnomAD v4 |
7 | g.151001854G= | CA1752441852 | NOS3 | c.1536G= (p.Thr512=) c.918G= (p.Thr306=) | |
7 | g.151001854G>T | CA458872022 | NOS3 | c.1536G>T (p.Thr512=) c.918G>T (p.Thr306=) | |
7 | g.151001855G>A | CA369858207 | NOS3 | c.1537G>A (p.Val513Met) c.919G>A (p.Val307Met) | |
7 | g.151001855G>C | CA369858208 | NOS3 | c.1537G>C (p.Val513Leu) c.919G>C (p.Val307Leu) | |
7 | g.151001855G= | CA1752441862 | NOS3 | c.1537G= (p.Val513=) c.919G= (p.Val307=) | |
7 | g.151001855G>T | CA369858209 | NOS3 | c.1537G>T (p.Val513Leu) c.919G>T (p.Val307Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151001856T>A | CA369858212 | NOS3 | c.1538T>A (p.Val513Glu) c.920T>A (p.Val307Glu) | |
7 | g.151001856T>C | CA369858211 | NOS3 | c.1538T>C (p.Val513Ala) c.920T>C (p.Val307Ala) | gnomAD v4 |
7 | g.151001856T>G | CA369858210 | NOS3 | c.1538T>G (p.Val513Gly) c.920T>G (p.Val307Gly) | |
7 | g.151001857G>A | CA458872026 | NOS3 | c.1539G>A (p.Val513=) c.921G>A (p.Val307=) | |
7 | g.151001857G>C | CA458872028 | NOS3 | c.1539G>C (p.Val513=) c.921G>C (p.Val307=) | |
7 | g.151001857G>T | CA458872032 | NOS3 | c.1539G>T (p.Val513=) c.921G>T (p.Val307=) | |
7 | g.151001858A>C | CA369858213 | NOS3 | c.1540A>C (p.Met514Leu) c.922A>C (p.Met308Leu) | |
7 | g.151001858A>G | CA369858214 | NOS3 | c.1540A>G (p.Met514Val) c.922A>G (p.Met308Val) | |
7 | g.151001858A>T | CA369858215 | NOS3 | c.1540A>T (p.Met514Leu) c.922A>T (p.Met308Leu) | |
7 | g.151001858dup | CA2579063487 | NOS3 | c.1540dup (p.Met514AsnfsTer?) c.922dup (p.Met308AsnfsTer?) | |
7 | g.151001859T>A | CA369858216 | NOS3 | c.1541T>A (p.Met514Lys) c.923T>A (p.Met308Lys) | |
7 | g.151001859T>C | CA369858217 | NOS3 | c.1541T>C (p.Met514Thr) c.923T>C (p.Met308Thr) | |
7 | g.151001859T>G | CA369858218 | NOS3 | c.1541T>G (p.Met514Arg) c.923T>G (p.Met308Arg) | |
7 | g.151001860G>A | CA4567023 | NOS3 | c.1542G>A (p.Met514Ile) c.924G>A (p.Met308Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151001860G>C | CA369858219 | NOS3 | c.1542G>C (p.Met514Ile) c.924G>C (p.Met308Ile) | |
7 | g.151001860G= | CA1752441870 | NOS3 | c.1542G= (p.Met514=) c.924G= (p.Met308=) | |
7 | g.151001860G>T | CA369858220 | NOS3 | c.1542G>T (p.Met514Ile) c.924G>T (p.Met308Ile) | |
7 | g.151001861G>A | CA369858221 | NOS3 | c.1543G>A (p.Ala515Thr) c.925G>A (p.Ala309Thr) | |
7 | g.151001861G>C | CA369858222 | NOS3 | c.1543G>C (p.Ala515Pro) c.925G>C (p.Ala309Pro) | |
7 | g.151001861G>T | CA369858223 | NOS3 | c.1543G>T (p.Ala515Ser) c.925G>T (p.Ala309Ser) | |
7 | g.151001862C>A | CA369858226 | NOS3 | c.1544C>A (p.Ala515Glu) c.926C>A (p.Ala309Glu) | |
7 | g.151001862C= | CA1752441877 | NOS3 | c.1544C= (p.Ala515=) c.926C= (p.Ala309=) | |
7 | g.151001862C>G | CA369858225 | NOS3 | c.1544C>G (p.Ala515Gly) c.926C>G (p.Ala309Gly) | |
7 | g.151001862C>T | CA369858224 | NOS3 | c.1544C>T (p.Ala515Val) c.926C>T (p.Ala309Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151001863G>A | CA458872037 | NOS3 | c.1545G>A (p.Ala515=) c.927G>A (p.Ala309=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151001863G>C | CA458872038 | NOS3 | c.1545G>C (p.Ala515=) c.927G>C (p.Ala309=) | |
7 | g.151001863G= | CA1752441889 | NOS3 | c.1545G= (p.Ala515=) c.927G= (p.Ala309=) | |
7 | g.151001863G>T | CA458872040 | NOS3 | c.1545G>T (p.Ala515=) c.927G>T (p.Ala309=) | |
7 | g.151001864A>C | CA369858227 | NOS3 | c.1546A>C (p.Lys516Gln) c.928A>C (p.Lys310Gln) | |
7 | g.151001864A>G | CA369858228 | NOS3 | c.1546A>G (p.Lys516Glu) c.928A>G (p.Lys310Glu) | |
7 | g.151001864A>T | CA369858229 | NOS3 | c.1546A>T (p.Lys516Ter) c.928A>T (p.Lys310Ter) | |
7 | g.151001865A>C | CA369858230 | NOS3 | c.1547A>C (p.Lys516Thr) c.929A>C (p.Lys310Thr) | |
7 | g.151001865A>G | CA369858231 | NOS3 | c.1547A>G (p.Lys516Arg) c.929A>G (p.Lys310Arg) | |
7 | g.151001865A>T | CA369858232 | NOS3 | c.1547A>T (p.Lys516Met) c.929A>T (p.Lys310Met) | |
7 | g.151001866G>A | CA458872047 | NOS3 | c.1548G>A (p.Lys516=) c.930G>A (p.Lys310=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.151001866G>C | CA369858233 | NOS3 | c.1548G>C (p.Lys516Asn) c.930G>C (p.Lys310Asn) | |
7 | g.151001866G= | CA1752441897 | NOS3 | c.1548G= (p.Lys516=) c.930G= (p.Lys310=) | |
7 | g.151001866G>T | CA369858234 | NOS3 | c.1548G>T (p.Lys516Asn) c.930G>T (p.Lys310Asn) | |
7 | g.151001867C>A | CA458872054 | NOS3 | c.1549C>A (p.Arg517=) n.1C>A c.931C>A (p.Arg311=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.151001867C= | CA1752441904 | NOS3 | c.1549C= (p.Arg517=) n.1C= c.931C= (p.Arg311=) | |
7 | g.151001867C>G | CA369858235 | NOS3 | c.1549C>G (p.Arg517Gly) n.1C>G c.931C>G (p.Arg311Gly) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
7 | g.151001867C>T | CA369858236 | NOS3 | c.1549C>T (p.Arg517Ter) n.1C>T c.931C>T (p.Arg311Ter) | gnomAD v4 |
7 | g.151001867_151001868delinsCG | CA1752441902 | NOS3 | c.1549_1550delinsCG (p.Arg517=) n.1_2delinsCG c.931_932delinsCG (p.Arg311=) | |
7 | g.151001868del | CA579075606 | NOS3 | c.1550del (p.Arg517GlnfsTer2) n.2del c.932del (p.Arg311GlnfsTer2) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151001868G>A | CA369858237 | NOS3 | c.1550G>A (p.Arg517Gln) n.2G>A c.932G>A (p.Arg311Gln) | gnomAD v4 |
7 | g.151001868G>C | CA369858238 | NOS3 | c.1550G>C (p.Arg517Pro) n.2G>C c.932G>C (p.Arg311Pro) | |
7 | g.151001868G>T | CA369858239 | NOS3 | c.1550G>T (p.Arg517Leu) n.2G>T c.932G>T (p.Arg311Leu) | |
7 | g.151001869A>C | CA458872060 | NOS3 | c.1551A>C (p.Arg517=) n.3A>C c.933A>C (p.Arg311=) | |
7 | g.151001869A>G | CA458872062 | NOS3 | c.1551A>G (p.Arg517=) n.3A>G c.933A>G (p.Arg311=) | |
7 | g.151001869A>T | CA458872064 | NOS3 | c.1551A>T (p.Arg517=) n.3A>T c.933A>T (p.Arg311=) | |
7 | g.151001870G>A | CA369858241 | NOS3 | c.1552G>A (p.Val518Met) n.4G>A c.934G>A (p.Val312Met) | |
7 | g.151001870G>C | CA4567024 | NOS3 | c.1552G>C (p.Val518Leu) n.4G>C c.934G>C (p.Val312Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151001870G= | CA1752441915 | NOS3 | c.1552G= (p.Val518=) n.4G= c.934G= (p.Val312=) | |
7 | g.151001870G>T | CA369858240 | NOS3 | c.1552G>T (p.Val518Leu) n.4G>T c.934G>T (p.Val312Leu) | |
7 | g.151001871T>A | CA369858242 | NOS3 | c.1553T>A (p.Val518Glu) n.5T>A c.935T>A (p.Val312Glu) | |
7 | g.151001871T>C | CA369858243 | NOS3 | c.1553T>C (p.Val518Ala) n.5T>C c.935T>C (p.Val312Ala) | |
7 | g.151001871T>G | CA369858244 | NOS3 | c.1553T>G (p.Val518Gly) n.5T>G c.935T>G (p.Val312Gly) | |
7 | g.151001872G>A | CA458872076 | NOS3 | c.1554G>A (p.Val518=) n.6G>A c.936G>A (p.Val312=) | |
7 | g.151001872G>C | CA458872077 | NOS3 | c.1554G>C (p.Val518=) n.6G>C c.936G>C (p.Val312=) | |
7 | g.151001872G>T | CA458872078 | NOS3 | c.1554G>T (p.Val518=) n.6G>T c.936G>T (p.Val312=) | |
7 | g.151001873A>C | CA369858245 | NOS3 | c.1555A>C (p.Lys519Gln) n.7A>C c.937A>C (p.Lys313Gln) | |
7 | g.151001873A>G | CA369858246 | NOS3 | c.1555A>G (p.Lys519Glu) n.7A>G c.937A>G (p.Lys313Glu) | |
7 | g.151001873A>T | CA369858247 | NOS3 | c.1555A>T (p.Lys519Ter) n.7A>T c.937A>T (p.Lys313Ter) | COSMIC |
7 | g.151001874A= | CA1752441920 | NOS3 | c.1556A= (p.Lys519=) n.8A= c.938A= (p.Lys313=) | |
7 | g.151001874A>C | CA369858248 | NOS3 | c.1556A>C (p.Lys519Thr) n.8A>C c.938A>C (p.Lys313Thr) | |
7 | g.151001874A>G | CA369858249 | NOS3 | c.1556A>G (p.Lys519Arg) n.8A>G c.938A>G (p.Lys313Arg) | |
7 | g.151001874A>T | CA369858250 | NOS3 | c.1556A>T (p.Lys519Met) n.8A>T c.938A>T (p.Lys313Met) | dbSNP |
7 | g.151001875G>A | CA458872085 | NOS3 | c.1557G>A (p.Lys519=) n.9G>A c.939G>A (p.Lys313=) | gnomAD v4 |
7 | g.151001875G>C | CA369858251 | NOS3 | c.1557G>C (p.Lys519Asn) n.9G>C c.939G>C (p.Lys313Asn) | |
7 | g.151001875G>T | CA369858252 | NOS3 | c.1557G>T (p.Lys519Asn) n.9G>T c.939G>T (p.Lys313Asn) | |
7 | g.151001876G>A | CA4567025 | NOS3 | c.1558G>A (p.Ala520Thr) n.10G>A c.940G>A (p.Ala314Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151001876G>C | CA369858254 | NOS3 | c.1558G>C (p.Ala520Pro) n.10G>C c.940G>C (p.Ala314Pro) | |
7 | g.151001876G= | CA1752441928 | NOS3 | c.1558G= (p.Ala520=) n.10G= c.940G= (p.Ala314=) | |
7 | g.151001876G>T | CA369858253 | NOS3 | c.1558G>T (p.Ala520Ser) n.10G>T c.940G>T (p.Ala314Ser) | |
7 | g.151001877C>A | CA369858255 | NOS3 | c.1559C>A (p.Ala520Glu) n.11C>A c.941C>A (p.Ala314Glu) | |
7 | g.151001877C= | CA1752441942 | NOS3 | c.1559C= (p.Ala520=) n.11C= c.941C= (p.Ala314=) | |
7 | g.151001877C>G | CA4567026 | NOS3 | c.1559C>G (p.Ala520Gly) n.11C>G c.941C>G (p.Ala314Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151001877C>T | CA369858256 | NOS3 | c.1559C>T (p.Ala520Val) n.11C>T c.941C>T (p.Ala314Val) | ClinVar dbSNP gnomAD v4 COSMIC |
7 | g.151001878G>A | CA4567027 | NOS3 | c.1560G>A (p.Ala520=) n.12G>A c.942G>A (p.Ala314=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151001878G>C | CA169073912 | NOS3 | c.1560G>C (p.Ala520=) n.12G>C c.942G>C (p.Ala314=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151001878G= | CA1752441950 | NOS3 | c.1560G= (p.Ala520=) n.12G= c.942G= (p.Ala314=) | |
7 | g.151001878G>T | CA4567028 | NOS3 | c.1560G>T (p.Ala520=) n.12G>T c.942G>T (p.Ala314=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151001879A= | CA1752441972 | NOS3 | c.1561A= (p.Thr521=) n.13A= c.943A= (p.Thr315=) | |
7 | g.151001879A>C | CA369858257 | NOS3 | c.1561A>C (p.Thr521Pro) n.13A>C c.943A>C (p.Thr315Pro) | |
7 | g.151001879A>G | CA369858258 | NOS3 | c.1561A>G (p.Thr521Ala) n.13A>G c.943A>G (p.Thr315Ala) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.151001879A>T | CA369858259 | NOS3 | c.1561A>T (p.Thr521Ser) n.13A>T c.943A>T (p.Thr315Ser) | |
7 | g.151001880C>A | CA369858260 | NOS3 | c.1562C>A (p.Thr521Lys) n.14C>A c.944C>A (p.Thr315Lys) | |
7 | g.151001880C= | CA1752441975 | NOS3 | c.1562C= (p.Thr521=) n.14C= c.944C= (p.Thr315=) | |
7 | g.151001880C>G | CA369858261 | NOS3 | c.1562C>G (p.Thr521Arg) n.14C>G c.944C>G (p.Thr315Arg) | |
7 | g.151001880C>T | CA369858262 | NOS3 | c.1562C>T (p.Thr521Ile) n.14C>T c.944C>T (p.Thr315Ile) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.151001881A>C | CA458872108 | NOS3 | c.1563A>C (p.Thr521=) n.15A>C c.945A>C (p.Thr315=) | gnomAD v4 |
7 | g.151001881A>G | CA458872112 | NOS3 | c.1563A>G (p.Thr521=) n.15A>G c.945A>G (p.Thr315=) | |
7 | g.151001881A>T | CA458872114 | NOS3 | c.1563A>T (p.Thr521=) n.15A>T c.945A>T (p.Thr315=) | |
7 | g.151001882A>C | CA369858263 | NOS3 | c.1564A>C (p.Ile522Leu) n.16A>C c.946A>C (p.Ile316Leu) | |
7 | g.151001882A>G | CA369858264 | NOS3 | c.1564A>G (p.Ile522Val) n.16A>G c.946A>G (p.Ile316Val) | |
7 | g.151001882A>T | CA369858265 | NOS3 | c.1564A>T (p.Ile522Phe) n.16A>T c.946A>T (p.Ile316Phe) | |
7 | g.151001883T>A | CA369858268 | NOS3 | c.1565T>A (p.Ile522Asn) n.17T>A c.947T>A (p.Ile316Asn) | |
7 | g.151001883T>C | CA369858267 | NOS3 | c.1565T>C (p.Ile522Thr) n.17T>C c.947T>C (p.Ile316Thr) | |
7 | g.151001883T>G | CA369858266 | NOS3 | c.1565T>G (p.Ile522Ser) n.17T>G c.947T>G (p.Ile316Ser) |