| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.23250557T>C | CA2622326903 | SGCG | c.298-73T>C (n.298-73T>C) c.352-73T>C (n.352-73T>C) | gnomAD v4 |
| 13 | g.23250560A>T | CA2622326904 | SGCG | c.298-70A>T (n.298-70A>T) c.352-70A>T (n.352-70A>T) | gnomAD v4 |
| 13 | g.23250561C>A | CA2622326905 | SGCG | c.298-69C>A (n.298-69C>A) c.352-69C>A (n.352-69C>A) | gnomAD v4 |
| 13 | g.23250561C= | CA2078590933 | SGCG | c.298-69C= (n.298-69C=) c.352-69C= (n.352-69C=) | |
| 13 | g.23250561C>T | CA2078590934 | SGCG | c.298-69C>T (n.298-69C>T) c.352-69C>T (n.352-69C>T) | dbSNP gnomAD v4 |
| 13 | g.23250562A>G | CA2622326906 | SGCG | c.298-68A>G (n.298-68A>G) c.352-68A>G (n.352-68A>G) | gnomAD v4 |
| 13 | g.23250563C>A | CA2575388447 | SGCG | c.298-67C>A (n.298-67C>A) c.352-67C>A (n.352-67C>A) | gnomAD v4 |
| 13 | g.23250563C>T | CA2622326907 | SGCG | c.298-67C>T (n.298-67C>T) c.352-67C>T (n.352-67C>T) | gnomAD v4 |
| 13 | g.23250565G>T | CA2622326908 | SGCG | c.298-65G>T (n.298-65G>T) c.352-65G>T (n.352-65G>T) | gnomAD v4 |
| 13 | g.23250566A= | CA2078590935 | SGCG | c.298-64A= (n.298-64A=) c.352-64A= (n.352-64A=) | |
| 13 | g.23250566A>G | CA2078590936 | SGCG | c.298-64A>G (n.298-64A>G) c.352-64A>G (n.352-64A>G) | dbSNP gnomAD v4 |
| 13 | g.23250567A>T | CA2575388448 | SGCG | c.298-63A>T (n.298-63A>T) c.352-63A>T (n.352-63A>T) | |
| 13 | g.23250574_23250581del | CA2798498377 | SGCG | c.298-56_298-49del (n.298-56_298-49del) c.352-56_352-49del (n.352-56_352-49del) | |
| 13 | g.23250570A= | CA2078590937 | SGCG | c.298-60A= (n.298-60A=) c.352-60A= (n.352-60A=) | |
| 13 | g.23250570A>G | CA2078590938 | SGCG | c.298-60A>G (n.298-60A>G) c.352-60A>G (n.352-60A>G) | dbSNP gnomAD v4 |
| 13 | g.23250570A>T | CA2078590939 | SGCG | c.298-60A>T (n.298-60A>T) c.352-60A>T (n.352-60A>T) | dbSNP |
| 13 | g.23250571T>C | CA2078590941 | SGCG | c.298-59T>C (n.298-59T>C) c.352-59T>C (n.352-59T>C) | dbSNP gnomAD v4 |
| 13 | g.23250571T= | CA2078590940 | SGCG | c.298-59T= (n.298-59T=) c.352-59T= (n.352-59T=) | |
| 13 | g.23250575_23250609del | CA2622326909 | SGCG | c.298-55_298-21del (n.298-55_298-21del) c.352-55_352-21del (n.352-55_352-21del) | gnomAD v4 |
| 13 | g.23250573A= | CA2078590942 | SGCG | c.298-57A= (n.298-57A=) c.352-57A= (n.352-57A=) | |
| 13 | g.23250573A>G | CA2078590943 | SGCG | c.298-57A>G (n.298-57A>G) c.352-57A>G (n.352-57A>G) | dbSNP gnomAD v4 |
| 13 | g.23250575G>C | CA2575388449 | SGCG | c.298-55G>C (n.298-55G>C) c.352-55G>C (n.352-55G>C) | gnomAD v4 |
| 13 | g.23250575G>T | CA2622326910 | SGCG | c.298-55G>T (n.298-55G>T) c.352-55G>T (n.352-55G>T) | gnomAD v4 |
| 13 | g.23250576A>C | CA2622326911 | SGCG | c.298-54A>C (n.298-54A>C) c.352-54A>C (n.352-54A>C) | gnomAD v4 |
| 13 | g.23250576A>T | CA2575388450 | SGCG | c.298-54A>T (n.298-54A>T) c.352-54A>T (n.352-54A>T) | gnomAD v4 |
| 13 | g.23250578A>G | CA2575388452 | SGCG | c.298-52A>G (n.298-52A>G) c.352-52A>G (n.352-52A>G) | |
| 13 | g.23250578A>T | CA2622326912 | SGCG | c.298-52A>T (n.298-52A>T) c.352-52A>T (n.352-52A>T) | gnomAD v4 |
| 13 | g.23250580_23250582del | CA2575388451 | SGCG | c.298-50_298-48del (n.298-50_298-48del) c.352-50_352-48del (n.352-50_352-48del) | gnomAD v4 |
| 13 | g.23250580A>G | CA2622326913 | SGCG | c.298-50A>G (n.298-50A>G) c.352-50A>G (n.352-50A>G) | gnomAD v4 |
| 13 | g.23250580A>T | CA2622326914 | SGCG | c.298-50A>T (n.298-50A>T) c.352-50A>T (n.352-50A>T) | gnomAD v4 |
| 13 | g.23250581A= | CA2078590944 | SGCG | c.298-49A= (n.298-49A=) c.352-49A= (n.352-49A=) | |
| 13 | g.23250581A>C | CA608612012 | SGCG | c.298-49A>C (n.298-49A>C) c.352-49A>C (n.352-49A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23250581A>T | CA2798498378 | SGCG | c.298-49A>T (n.298-49A>T) c.352-49A>T (n.352-49A>T) | |
| 13 | g.23250583C>A | CA2575388453 | SGCG | c.298-47C>A (n.298-47C>A) c.352-47C>A (n.352-47C>A) | gnomAD v4 |
| 13 | g.23250584A>G | CA2622326915 | SGCG | c.298-46A>G (n.298-46A>G) c.352-46A>G (n.352-46A>G) | gnomAD v4 |
| 13 | g.23250585T>C | CA246628422 | SGCG | c.298-45T>C (n.298-45T>C) c.352-45T>C (n.352-45T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23250585T= | CA2078590945 | SGCG | c.298-45T= (n.298-45T=) c.352-45T= (n.352-45T=) | |
| 13 | g.23250589A= | CA2078590946 | SGCG | c.298-41A= (n.298-41A=) c.352-41A= (n.352-41A=) | |
| 13 | g.23250589A>C | CA608612016 | SGCG | c.298-41A>C (n.298-41A>C) c.352-41A>C (n.352-41A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23250589A>T | CA2575388454 | SGCG | c.298-41A>T (n.298-41A>T) c.352-41A>T (n.352-41A>T) | gnomAD v4 |
| 13 | g.23250591A>G | CA2575388455 | SGCG | c.298-39A>G (n.298-39A>G) c.352-39A>G (n.352-39A>G) | gnomAD v4 |
| 13 | g.23250592C>T | CA2622326916 | SGCG | c.298-38C>T (n.298-38C>T) c.352-38C>T (n.352-38C>T) | gnomAD v4 |
| 13 | g.23250593A= | CA2078590947 | SGCG | c.298-37A= (n.298-37A=) c.352-37A= (n.352-37A=) | |
| 13 | g.23250593A>T | CA608612018 | SGCG | c.298-37A>T (n.298-37A>T) c.352-37A>T (n.352-37A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23250594G>A | CA6909630 | SGCG | c.298-36G>A (n.298-36G>A) c.352-36G>A (n.352-36G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23250594G= | CA2078590948 | SGCG | c.298-36G= (n.298-36G=) c.352-36G= (n.352-36G=) | |
| 13 | g.23250595del | CA2575388456 | SGCG | c.298-35del (n.298-35del) c.352-35del (n.352-35del) | gnomAD v4 |
| 13 | g.23250595C>A | CA6909631 | SGCG | c.298-35C>A (n.298-35C>A) c.352-35C>A (n.352-35C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23250595C= | CA2078590949 | SGCG | c.298-35C= (n.298-35C=) c.352-35C= (n.352-35C=) | |
| 13 | g.23250595C>T | CA2622326917 | SGCG | c.298-35C>T (n.298-35C>T) c.352-35C>T (n.352-35C>T) | gnomAD v4 |
| 13 | g.23250596A= | CA2078590950 | SGCG | c.298-34A= (n.298-34A=) c.352-34A= (n.352-34A=) | |
| 13 | g.23250596A>C | CA608612029 | SGCG | c.298-34A>C (n.298-34A>C) c.352-34A>C (n.352-34A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23250596A>T | CA2622326918 | SGCG | c.298-34A>T (n.298-34A>T) c.352-34A>T (n.352-34A>T) | gnomAD v4 |
| 13 | g.23250597C>A | CA2078590952 | SGCG | c.298-33C>A (n.298-33C>A) c.352-33C>A (n.352-33C>A) | dbSNP gnomAD v4 |
| 13 | g.23250597C= | CA2078590951 | SGCG | c.298-33C= (n.298-33C=) c.352-33C= (n.352-33C=) | |
| 13 | g.23250597C>T | CA2622326919 | SGCG | c.298-33C>T (n.298-33C>T) c.352-33C>T (n.352-33C>T) | gnomAD v4 |
| 13 | g.23250598C>A | CA2622326920 | SGCG | c.298-32C>A (n.298-32C>A) c.352-32C>A (n.352-32C>A) | gnomAD v4 |
| 13 | g.23250598C= | CA2078590953 | SGCG | c.298-32C= (n.298-32C=) c.352-32C= (n.352-32C=) | |
| 13 | g.23250598C>G | CA954039912 | SGCG | c.298-32C>G (n.298-32C>G) c.352-32C>G (n.352-32C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23250598C>T | CA2078590954 | SGCG | c.298-32C>T (n.298-32C>T) c.352-32C>T (n.352-32C>T) | dbSNP |
| 13 | g.23250600A= | CA2078590956 | SGCG | c.298-30A= (n.298-30A=) c.352-30A= (n.352-30A=) | |
| 13 | g.23250600A>G | CA2622326921 | SGCG | c.298-30A>G (n.298-30A>G) c.352-30A>G (n.352-30A>G) | gnomAD v4 |
| 13 | g.23250600A>T | CA2078590957 | SGCG | c.298-30A>T (n.298-30A>T) c.352-30A>T (n.352-30A>T) | dbSNP |
| 13 | g.23250600_23250601delinsAT | CA2078590955 | SGCG | c.298-30_298-29delinsAT (n.298-30_298-29delinsAT) c.352-30_352-29delinsAT (n.352-30_352-29delinsAT) | |
| 13 | g.23250601T>C | CA2575388457 | SGCG | c.298-29T>C (n.298-29T>C) c.352-29T>C (n.352-29T>C) | |
| 13 | g.23250604del | CA608612030 | SGCG | c.298-26del (n.298-26del) c.352-26del (n.352-26del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23250602T>C | CA2622326922 | SGCG | c.298-28T>C (n.298-28T>C) c.352-28T>C (n.352-28T>C) | gnomAD v4 |
| 13 | g.23250605G>A | CA2622326923 | SGCG | c.298-25G>A (n.298-25G>A) c.352-25G>A (n.352-25G>A) | gnomAD v4 |
| 13 | g.23250606C>A | CA2622326924 | SGCG | c.298-24C>A (n.298-24C>A) c.352-24C>A (n.352-24C>A) | gnomAD v4 |
| 13 | g.23250607A= | CA2078590958 | SGCG | c.298-23A= (n.298-23A=) c.352-23A= (n.352-23A=) | |
| 13 | g.23250607A>C | CA6909632 | SGCG | c.298-23A>C (n.298-23A>C) c.352-23A>C (n.352-23A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23250608A= | CA2078590959 | SGCG | c.298-22A= (n.298-22A=) c.352-22A= (n.352-22A=) | |
| 13 | g.23250608A>G | CA6909633 | SGCG | c.298-22A>G (n.298-22A>G) c.352-22A>G (n.352-22A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23250609A>G | CA2622326925 | SGCG | c.298-21A>G (n.298-21A>G) c.352-21A>G (n.352-21A>G) | gnomAD v4 |
| 13 | g.23250610T>G | CA6909634 | SGCG | c.298-20T>G (n.298-20T>G) c.352-20T>G (n.352-20T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23250610T= | CA2078590960 | SGCG | c.298-20T= (n.298-20T=) c.352-20T= (n.352-20T=) | |
| 13 | g.23250613T>C | CA2622326926 | SGCG | c.298-17T>C (n.298-17T>C) c.352-17T>C (n.352-17T>C) | gnomAD v4 |
| 13 | g.23250614A>G | CA2622326927 | SGCG | c.298-16A>G (n.298-16A>G) c.352-16A>G (n.352-16A>G) | ClinVar gnomAD v4 |
| 13 | g.23250615T>C | CA2622326928 | SGCG | c.298-15T>C (n.298-15T>C) c.352-15T>C (n.352-15T>C) | gnomAD v4 |
| 13 | g.23250616A= | CA2078590961 | SGCG | c.298-14A= (n.298-14A=) c.352-14A= (n.352-14A=) | |
| 13 | g.23250616A>G | CA482918372 | SGCG | c.298-14A>G (n.298-14A>G) c.352-14A>G (n.352-14A>G) | ClinVar dbSNP gnomAD v4 |
| 13 | g.23250617A>C | CA2622326929 | SGCG | c.298-13A>C (n.298-13A>C) c.352-13A>C (n.352-13A>C) | gnomAD v4 |
| 13 | g.23250617A>G | CA2622326930 | SGCG | c.298-13A>G (n.298-13A>G) c.352-13A>G (n.352-13A>G) | gnomAD v4 |
| 13 | g.23250618A>G | CA2622326931 | SGCG | c.298-12A>G (n.298-12A>G) c.352-12A>G (n.352-12A>G) | gnomAD v4 |
| 13 | g.23250618A>T | CA2622326932 | SGCG | c.298-12A>T (n.298-12A>T) c.352-12A>T (n.352-12A>T) | gnomAD v4 |
| 13 | g.23250619T>A | CA2622326933 | SGCG | c.298-11T>A (n.298-11T>A) c.352-11T>A (n.352-11T>A) | gnomAD v4 |
| 13 | g.23250619T>C | CA2622326934 | SGCG | c.298-11T>C (n.298-11T>C) c.352-11T>C (n.352-11T>C) | gnomAD v4 |
| 13 | g.23250620C>A | CA2622326935 | SGCG | c.298-10C>A (n.298-10C>A) c.352-10C>A (n.352-10C>A) | gnomAD v4 |
| 13 | g.23250620C= | CA2078590962 | SGCG | c.298-10C= (n.298-10C=) c.352-10C= (n.352-10C=) | |
| 13 | g.23250620C>G | CA954039915 | SGCG | c.298-10C>G (n.298-10C>G) c.352-10C>G (n.352-10C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23250621T>C | CA2622326936 | SGCG | c.298-9T>C (n.298-9T>C) c.352-9T>C (n.352-9T>C) | dbSNP gnomAD v4 |
| 13 | g.23250622C>A | CA2622326937 | SGCG | c.298-8C>A (n.298-8C>A) c.352-8C>A (n.352-8C>A) | gnomAD v4 |
| 13 | g.23250622C>T | CA645584204 | SGCG | c.298-8C>T (n.298-8C>T) c.352-8C>T (n.352-8C>T) | ClinVar COSMIC |
| 13 | g.23250624T>C | CA2622326938 | SGCG | c.298-6T>C (n.298-6T>C) c.352-6T>C (n.352-6T>C) | gnomAD v4 |
| 13 | g.23250625T>C | CA6909635 | SGCG | c.298-5T>C (n.298-5T>C) c.352-5T>C (n.352-5T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23250625T= | CA2078590963 | SGCG | c.298-5T= (n.298-5T=) c.352-5T= (n.352-5T=) | |
| 13 | g.23250626C>A | CA2622326939 | SGCG | c.298-4C>A (n.298-4C>A) c.352-4C>A (n.352-4C>A) | gnomAD v4 |
| 13 | g.23250627T>A | CA2622326940 | SGCG | c.298-3T>A (n.298-3T>A) c.352-3T>A (n.352-3T>A) | gnomAD v4 |
| 13 | g.23250627T>C | CA696636072 | SGCG | c.298-3T>C (n.298-3T>C) c.352-3T>C (n.352-3T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.23250627T= | CA2078590964 | SGCG | c.298-3T= (n.298-3T=) c.352-3T= (n.352-3T=) | |
| 13 | g.23250628del | CA2575388458 | SGCG | c.298-2del (n.298-2del) c.352-2del (n.352-2del) | |
| 13 | g.23250628A= | CA2078590965 | SGCG | c.298-2A= (n.298-2A=) c.352-2A= (n.352-2A=) | |
| 13 | g.23250628A>C | CA387501515 | SGCG | c.298-2A>C (n.298-2A>C) c.352-2A>C (n.352-2A>C) | ClinVar dbSNP |
| 13 | g.23250628A>G | CA387501516 | SGCG | c.298-2A>G (n.298-2A>G) c.352-2A>G (n.352-2A>G) | ClinVar gnomAD v4 COSMIC |
| 13 | g.23250628A>T | CA387501517 | SGCG | c.298-2A>T (n.298-2A>T) c.352-2A>T (n.352-2A>T) | |
| 13 | g.23250629G>A | CA387501518 | SGCG | c.298-1G>A (n.298-1G>A) c.352-1G>A (n.352-1G>A) | ClinVar dbSNP gnomAD v4 |
| 13 | g.23250629G>C | CA387501519 | SGCG | c.298-1G>C (n.298-1G>C) c.352-1G>C (n.352-1G>C) | |
| 13 | g.23250629G= | CA2078590966 | SGCG | c.298-1G= (n.298-1G=) c.352-1G= (n.352-1G=) | |
| 13 | g.23250629G>T | CA246628456 | SGCG | c.298-1G>T (n.298-1G>T) c.352-1G>T (n.352-1G>T) | dbSNP |
| 13 | g.23250630G>A | CA387501520 | SGCG | c.298G>A (p.Asp100Asn) c.352G>A (p.Asp118Asn) | |
| 13 | g.23250630G>C | CA387501521 | SGCG | c.298G>C (p.Asp100His) c.352G>C (p.Asp118His) | |
| 13 | g.23250630G>T | CA387501522 | SGCG | c.298G>T (p.Asp100Tyr) c.352G>T (p.Asp118Tyr) | |
| 13 | g.23250631A>C | CA387501523 | SGCG | c.299A>C (p.Asp100Ala) c.353A>C (p.Asp118Ala) | |
| 13 | g.23250631A>G | CA387501524 | SGCG | c.299A>G (p.Asp100Gly) c.353A>G (p.Asp118Gly) | gnomAD v4 |
| 13 | g.23250631A>T | CA387501525 | SGCG | c.299A>T (p.Asp100Val) c.353A>T (p.Asp118Val) | |
| 13 | g.23250632C>A | CA387501526 | SGCG | c.300C>A (p.Asp100Glu) c.354C>A (p.Asp118Glu) | gnomAD v4 |
| 13 | g.23250632C>G | CA387501527 | SGCG | c.300C>G (p.Asp100Glu) c.354C>G (p.Asp118Glu) | |
| 13 | g.23250632C>T | CA482918373 | SGCG | c.300C>T (p.Asp100=) c.354C>T (p.Asp118=) | ClinVar dbSNP |
| 13 | g.23250633T>A | CA387501528 | SGCG | c.301T>A (p.Ser101Thr) c.355T>A (p.Ser119Thr) | COSMIC |
| 13 | g.23250633T>C | CA387501530 | SGCG | c.301T>C (p.Ser101Pro) c.355T>C (p.Ser119Pro) | gnomAD v4 |
| 13 | g.23250633T>G | CA387501529 | SGCG | c.301T>G (p.Ser101Ala) c.355T>G (p.Ser119Ala) | gnomAD v4 |
| 13 | g.23250634C>A | CA387501531 | SGCG | c.302C>A (p.Ser101Ter) c.356C>A (p.Ser119Ter) | ClinVar gnomAD v4 |
| 13 | g.23250634C= | CA2078590967 | SGCG | c.302C= (p.Ser101=) c.356C= (p.Ser119=) | |
| 13 | g.23250634C>G | CA387501532 | SGCG | c.302C>G (p.Ser101Ter) c.356C>G (p.Ser119Ter) | |
| 13 | g.23250634C>T | CA10604135 | SGCG | c.302C>T (p.Ser101Leu) c.356C>T (p.Ser119Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23250635A= | CA2078590968 | SGCG | c.303A= (p.Ser101=) c.357A= (p.Ser119=) | |
| 13 | g.23250635A>C | CA6909636 | SGCG | c.303A>C (p.Ser101=) c.357A>C (p.Ser119=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23250635A>G | CA482918374 | SGCG | c.303A>G (p.Ser101=) c.357A>G (p.Ser119=) | |
| 13 | g.23250635A>T | CA482918375 | SGCG | c.303A>T (p.Ser101=) c.357A>T (p.Ser119=) | |
| 13 | g.23250636T>A | CA387501533 | SGCG | c.304T>A (p.Ser102Thr) c.358T>A (p.Ser120Thr) | |
| 13 | g.23250636T>C | CA6909637 | SGCG | c.304T>C (p.Ser102Pro) c.358T>C (p.Ser120Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23250636T>G | CA387501534 | SGCG | c.304T>G (p.Ser102Ala) c.358T>G (p.Ser120Ala) | |
| 13 | g.23250636T= | CA2078590969 | SGCG | c.304T= (p.Ser102=) c.358T= (p.Ser120=) | |
| 13 | g.23250637C>A | CA387501535 | SGCG | c.305C>A (p.Ser102Tyr) c.359C>A (p.Ser120Tyr) | dbSNP gnomAD v4 COSMIC |
| 13 | g.23250637C= | CA2078590970 | SGCG | c.305C= (p.Ser102=) c.359C= (p.Ser120=) | |
| 13 | g.23250637C>G | CA387501536 | SGCG | c.305C>G (p.Ser102Cys) c.359C>G (p.Ser120Cys) | |
| 13 | g.23250637C>T | CA387501537 | SGCG | c.305C>T (p.Ser102Phe) c.359C>T (p.Ser120Phe) | |
| 13 | g.23250638T>A | CA482918376 | SGCG | c.306T>A (p.Ser102=) c.360T>A (p.Ser120=) | |
| 13 | g.23250638T>C | CA482918378 | SGCG | c.306T>C (p.Ser102=) c.360T>C (p.Ser120=) | |
| 13 | g.23250638T>G | CA482918377 | SGCG | c.306T>G (p.Ser102=) c.360T>G (p.Ser120=) | |
| 13 | g.23250639C>A | CA387501538 | SGCG | c.307C>A (p.Leu103Met) c.361C>A (p.Leu121Met) | gnomAD v4 COSMIC |
| 13 | g.23250639C= | CA2078590971 | SGCG | c.307C= (p.Leu103=) c.361C= (p.Leu121=) | |
| 13 | g.23250639C>G | CA6909638 | SGCG | c.307C>G (p.Leu103Val) c.361C>G (p.Leu121Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23250639C>T | CA482918379 | SGCG | c.307C>T (p.Leu103=) c.361C>T (p.Leu121=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23250640T>A | CA387501541 | SGCG | c.308T>A (p.Leu103Gln) c.362T>A (p.Leu121Gln) | |
| 13 | g.23250640T>C | CA387501539 | SGCG | c.308T>C (p.Leu103Pro) c.362T>C (p.Leu121Pro) | |
| 13 | g.23250640T>G | CA387501540 | SGCG | c.308T>G (p.Leu103Arg) c.362T>G (p.Leu121Arg) | |
| 13 | g.23250641G>A | CA482918380 | SGCG | c.309G>A (p.Leu103=) c.363G>A (p.Leu121=) | COSMIC |
| 13 | g.23250641G>C | CA482918381 | SGCG | c.309G>C (p.Leu103=) c.363G>C (p.Leu121=) | |
| 13 | g.23250641G>T | CA482918382 | SGCG | c.309G>T (p.Leu103=) c.363G>T (p.Leu121=) | |
| 13 | g.23250642C>A | CA246628516 | SGCG | c.310C>A (p.Leu104Ile) c.364C>A (p.Leu122Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23250642C= | CA2078590972 | SGCG | c.310C= (p.Leu104=) c.364C= (p.Leu122=) | |
| 13 | g.23250642C>G | CA387501542 | SGCG | c.310C>G (p.Leu104Val) c.364C>G (p.Leu122Val) | |
| 13 | g.23250642C>T | CA387501543 | SGCG | c.310C>T (p.Leu104Phe) c.364C>T (p.Leu122Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23250644_23250646del | CA2622326941 | SGCG | c.312_314del (p.Leu105del) c.366_368del (p.Leu123del) | gnomAD v4 |
| 13 | g.23250643T>A | CA387501544 | SGCG | c.311T>A (p.Leu104His) c.365T>A (p.Leu122His) | |
| 13 | g.23250643T>C | CA387501545 | SGCG | c.311T>C (p.Leu104Pro) c.365T>C (p.Leu122Pro) | |
| 13 | g.23250643T>G | CA387501546 | SGCG | c.311T>G (p.Leu104Arg) c.365T>G (p.Leu122Arg) | |
| 13 | g.23250644T>A | CA482918385 | SGCG | c.312T>A (p.Leu104=) c.366T>A (p.Leu122=) | gnomAD v4 |
| 13 | g.23250644T>C | CA482918386 | SGCG | c.312T>C (p.Leu104=) c.366T>C (p.Leu122=) | ClinVar |
| 13 | g.23250644T>G | CA145900 | SGCG | c.312T>G (p.Leu104=) c.366T>G (p.Leu122=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23250644T= | CA2018046957 | SGCG | c.312T= (p.Leu104=) c.366T= (p.Leu122=) | |
| 13 | g.23250645C>A | CA387501547 | SGCG | c.313C>A (p.Leu105Ile) c.367C>A (p.Leu123Ile) | gnomAD v4 |
| 13 | g.23250645C>G | CA387501548 | SGCG | c.313C>G (p.Leu105Val) c.367C>G (p.Leu123Val) | |
| 13 | g.23250645C>T | CA482918387 | SGCG | c.313C>T (p.Leu105=) c.367C>T (p.Leu123=) | |
| 13 | g.23250646T>A | CA387501549 | SGCG | c.314T>A (p.Leu105Gln) c.368T>A (p.Leu123Gln) | |
| 13 | g.23250646T>C | CA387501550 | SGCG | c.314T>C (p.Leu105Pro) c.368T>C (p.Leu123Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.23250646T>G | CA387501551 | SGCG | c.314T>G (p.Leu105Arg) c.368T>G (p.Leu123Arg) | |
| 13 | g.23250646T= | CA2078590973 | SGCG | c.314T= (p.Leu105=) c.368T= (p.Leu123=) | |
| 13 | g.23250647A= | CA2078590974 | SGCG | c.315A= (p.Leu105=) c.369A= (p.Leu123=) | |
| 13 | g.23250647A>C | CA482918389 | SGCG | c.315A>C (p.Leu105=) c.369A>C (p.Leu123=) | |
| 13 | g.23250647A>G | CA6909639 | SGCG | c.315A>G (p.Leu105=) c.369A>G (p.Leu123=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23250647A>T | CA482918388 | SGCG | c.315A>T (p.Leu105=) c.369A>T (p.Leu123=) | |
| 13 | g.23250648C>A | CA387501554 | SGCG | c.316C>A (p.Gln106Lys) c.370C>A (p.Gln124Lys) | gnomAD v4 |
| 13 | g.23250648C= | CA2078590975 | SGCG | c.316C= (p.Gln106=) c.370C= (p.Gln124=) | |
| 13 | g.23250648C>G | CA387501552 | SGCG | c.316C>G (p.Gln106Glu) c.370C>G (p.Gln124Glu) | gnomAD v4 |
| 13 | g.23250648C>T | CA387501553 | SGCG | c.316C>T (p.Gln106Ter) c.370C>T (p.Gln124Ter) | dbSNP |
| 13 | g.23250649A>C | CA387501555 | SGCG | c.317A>C (p.Gln106Pro) c.371A>C (p.Gln124Pro) | ClinVar dbSNP |
| 13 | g.23250649A>G | CA387501556 | SGCG | c.317A>G (p.Gln106Arg) c.371A>G (p.Gln124Arg) | |
| 13 | g.23250649A>T | CA387501557 | SGCG | c.317A>T (p.Gln106Leu) c.371A>T (p.Gln124Leu) | |
| 13 | g.23250650A= | CA2078590976 | SGCG | c.318A= (p.Gln106=) c.372A= (p.Gln124=) | |
| 13 | g.23250650A>C | CA387501558 | SGCG | c.318A>C (p.Gln106His) c.372A>C (p.Gln124His) | |
| 13 | g.23250650A>G | CA6909640 | SGCG | c.318A>G (p.Gln106=) c.372A>G (p.Gln124=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.23250650A>T | CA387501559 | SGCG | c.318A>T (p.Gln106His) c.372A>T (p.Gln124His) | |
| 13 | g.23250651T>A | CA387501560 | SGCG | c.319T>A (p.Ser107Thr) c.373T>A (p.Ser125Thr) | |
| 13 | g.23250651T>C | CA387501561 | SGCG | c.319T>C (p.Ser107Pro) c.373T>C (p.Ser125Pro) | |
| 13 | g.23250651T>G | CA387501562 | SGCG | c.319T>G (p.Ser107Ala) c.373T>G (p.Ser125Ala) | |
| 13 | g.23250652C>A | CA387501563 | SGCG | c.320C>A (p.Ser107Ter) c.374C>A (p.Ser125Ter) | |
| 13 | g.23250652C= | CA2078590977 | SGCG | c.320C= (p.Ser107=) c.374C= (p.Ser125=) | |
| 13 | g.23250652C>G | CA387501564 | SGCG | c.320C>G (p.Ser107Ter) c.374C>G (p.Ser125Ter) | |
| 13 | g.23250652C>T | CA6909641 | SGCG | c.320C>T (p.Ser107Leu) c.374C>T (p.Ser125Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23250653A= | CA2078590978 | SGCG | c.321A= (p.Ser107=) c.375A= (p.Ser125=) | |
| 13 | g.23250653A>C | CA6909642 | SGCG | c.321A>C (p.Ser107=) c.375A>C (p.Ser125=) | ClinVar dbSNP ExAC gnomAD v2 |
| 13 | g.23250653A>G | CA482918390 | SGCG | c.321A>G (p.Ser107=) c.375A>G (p.Ser125=) | |
| 13 | g.23250653A>T | CA482918391 | SGCG | c.321A>T (p.Ser107=) c.375A>T (p.Ser125=) | |
| 13 | g.23250654A>C | CA387501565 | SGCG | c.322A>C (p.Thr108Pro) c.376A>C (p.Thr126Pro) | |
| 13 | g.23250654A>G | CA387501566 | SGCG | c.322A>G (p.Thr108Ala) c.376A>G (p.Thr126Ala) | |
| 13 | g.23250654A>T | CA387501567 | SGCG | c.322A>T (p.Thr108Ser) c.376A>T (p.Thr126Ser) | |
| 13 | g.23250655C>A | CA387501568 | SGCG | c.323C>A (p.Thr108Asn) c.377C>A (p.Thr126Asn) | dbSNP gnomAD v4 |
| 13 | g.23250655C= | CA2078590979 | SGCG | c.323C= (p.Thr108=) c.377C= (p.Thr126=) | |
| 13 | g.23250655C>G | CA387501569 | SGCG | c.323C>G (p.Thr108Ser) c.377C>G (p.Thr126Ser) | |
| 13 | g.23250655C>T | CA387501570 | SGCG | c.323C>T (p.Thr108Ile) c.377C>T (p.Thr126Ile) | |
| 13 | g.23250657del | CA2575388459 | SGCG | c.325del (p.Gln109ArgfsTer3) c.379del (p.Gln127ArgfsTer3) | |
| 13 | g.23250656C>A | CA6909643 | SGCG | c.324C>A (p.Thr108=) c.378C>A (p.Thr126=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.23250656C= | CA2078590980 | SGCG | c.324C= (p.Thr108=) c.378C= (p.Thr126=) | |
| 13 | g.23250656C>G | CA482918392 | SGCG | c.324C>G (p.Thr108=) c.378C>G (p.Thr126=) | |
| 13 | g.23250656C>T | CA482918393 | SGCG | c.324C>T (p.Thr108=) c.378C>T (p.Thr126=) | |
| 13 | g.23250657C>A | CA387501571 | SGCG | c.325C>A (p.Gln109Lys) c.379C>A (p.Gln127Lys) | |
| 13 | g.23250657C>G | CA387501572 | SGCG | c.325C>G (p.Gln109Glu) c.379C>G (p.Gln127Glu) | |
| 13 | g.23250657C>T | CA387501573 | SGCG | c.325C>T (p.Gln109Ter) c.379C>T (p.Gln127Ter) | gnomAD v4 |