Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.99699490C= | CA1805814784 | VPS13B | c.6122-35C= (n.6122-35C=) n.6192-35C= c.*1804-35C= (n.*1804-35C=) c.6047-35C= (n.6047-35C=) c.6119-35C= (n.6119-35C=) c.6044-35C= (n.6044-35C=) c.5744-35C= (n.5744-35C=) c.3008-35C= (n.3008-35C=) c.1901-35C= (n.1901-35C=) c.5927-35C= (n.5927-35C=) c.1679-35C= (n.1679-35C=) c.4907-35C= (n.4907-35C=) n.6083-35C= | |
8 | g.99699490C>T | CA4823922 | VPS13B | c.6122-35C>T (n.6122-35C>T) n.6192-35C>T c.*1804-35C>T (n.*1804-35C>T) c.6047-35C>T (n.6047-35C>T) c.6119-35C>T (n.6119-35C>T) c.6044-35C>T (n.6044-35C>T) c.5744-35C>T (n.5744-35C>T) c.3008-35C>T (n.3008-35C>T) c.1901-35C>T (n.1901-35C>T) c.5927-35C>T (n.5927-35C>T) c.1679-35C>T (n.1679-35C>T) c.4907-35C>T (n.4907-35C>T) n.6083-35C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99699493_99699494delinsCA | CA1805814788 | VPS13B | c.6122-32_6122-31delinsCA (n.6122-32_6122-31delinsCA) n.6192-32_6192-31delinsCA c.*1804-32_*1804-31delinsCA (n.*1804-32_*1804-31delinsCA) c.6047-32_6047-31delinsCA (n.6047-32_6047-31delinsCA) c.6119-32_6119-31delinsCA (n.6119-32_6119-31delinsCA) c.6044-32_6044-31delinsCA (n.6044-32_6044-31delinsCA) c.5744-32_5744-31delinsCA (n.5744-32_5744-31delinsCA) c.3008-32_3008-31delinsCA (n.3008-32_3008-31delinsCA) c.1901-32_1901-31delinsCA (n.1901-32_1901-31delinsCA) c.5927-32_5927-31delinsCA (n.5927-32_5927-31delinsCA) c.1679-32_1679-31delinsCA (n.1679-32_1679-31delinsCA) c.4907-32_4907-31delinsCA (n.4907-32_4907-31delinsCA) n.6083-32_6083-31delinsCA | |
8 | g.99699495del | CA857579996 | VPS13B | c.6122-30del (n.6122-30del) n.6192-30del c.*1804-30del (n.*1804-30del) c.6047-30del (n.6047-30del) c.6119-30del (n.6119-30del) c.6044-30del (n.6044-30del) c.5744-30del (n.5744-30del) c.3008-30del (n.3008-30del) c.1901-30del (n.1901-30del) c.5927-30del (n.5927-30del) c.1679-30del (n.1679-30del) c.4907-30del (n.4907-30del) n.6083-30del | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699495A= | CA1805814798 | VPS13B | c.6122-30A= (n.6122-30A=) n.6192-30A= c.*1804-30A= (n.*1804-30A=) c.6047-30A= (n.6047-30A=) c.6119-30A= (n.6119-30A=) c.6044-30A= (n.6044-30A=) c.5744-30A= (n.5744-30A=) c.3008-30A= (n.3008-30A=) c.1901-30A= (n.1901-30A=) c.5927-30A= (n.5927-30A=) c.1679-30A= (n.1679-30A=) c.4907-30A= (n.4907-30A=) n.6083-30A= | |
8 | g.99699495A>G | CA4823923 | VPS13B | c.6122-30A>G (n.6122-30A>G) n.6192-30A>G c.*1804-30A>G (n.*1804-30A>G) c.6047-30A>G (n.6047-30A>G) c.6119-30A>G (n.6119-30A>G) c.6044-30A>G (n.6044-30A>G) c.5744-30A>G (n.5744-30A>G) c.3008-30A>G (n.3008-30A>G) c.1901-30A>G (n.1901-30A>G) c.5927-30A>G (n.5927-30A>G) c.1679-30A>G (n.1679-30A>G) c.4907-30A>G (n.4907-30A>G) n.6083-30A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99699498A>G | CA2688068478 | VPS13B | c.6122-27A>G (n.6122-27A>G) n.6192-27A>G c.*1804-27A>G (n.*1804-27A>G) c.6047-27A>G (n.6047-27A>G) c.6119-27A>G (n.6119-27A>G) c.6044-27A>G (n.6044-27A>G) c.5744-27A>G (n.5744-27A>G) c.3008-27A>G (n.3008-27A>G) c.1901-27A>G (n.1901-27A>G) c.5927-27A>G (n.5927-27A>G) c.1679-27A>G (n.1679-27A>G) c.4907-27A>G (n.4907-27A>G) n.6083-27A>G | gnomAD v4 |
8 | g.99699499T>C | CA2688068479 | VPS13B | c.6122-26T>C (n.6122-26T>C) n.6192-26T>C c.*1804-26T>C (n.*1804-26T>C) c.6047-26T>C (n.6047-26T>C) c.6119-26T>C (n.6119-26T>C) c.6044-26T>C (n.6044-26T>C) c.5744-26T>C (n.5744-26T>C) c.3008-26T>C (n.3008-26T>C) c.1901-26T>C (n.1901-26T>C) c.5927-26T>C (n.5927-26T>C) c.1679-26T>C (n.1679-26T>C) c.4907-26T>C (n.4907-26T>C) n.6083-26T>C | gnomAD v4 |
8 | g.99699500_99699501delinsTG | CA1805814802 | VPS13B | c.6122-25_6122-24delinsTG (n.6122-25_6122-24delinsTG) n.6192-25_6192-24delinsTG c.*1804-25_*1804-24delinsTG (n.*1804-25_*1804-24delinsTG) c.6047-25_6047-24delinsTG (n.6047-25_6047-24delinsTG) c.6119-25_6119-24delinsTG (n.6119-25_6119-24delinsTG) c.6044-25_6044-24delinsTG (n.6044-25_6044-24delinsTG) c.5744-25_5744-24delinsTG (n.5744-25_5744-24delinsTG) c.3008-25_3008-24delinsTG (n.3008-25_3008-24delinsTG) c.1901-25_1901-24delinsTG (n.1901-25_1901-24delinsTG) c.5927-25_5927-24delinsTG (n.5927-25_5927-24delinsTG) c.1679-25_1679-24delinsTG (n.1679-25_1679-24delinsTG) c.4907-25_4907-24delinsTG (n.4907-25_4907-24delinsTG) n.6083-25_6083-24delinsTG | |
8 | g.99699501del | CA4823924 | VPS13B | c.6122-24del (n.6122-24del) n.6192-24del c.*1804-24del (n.*1804-24del) c.6047-24del (n.6047-24del) c.6119-24del (n.6119-24del) c.6044-24del (n.6044-24del) c.5744-24del (n.5744-24del) c.3008-24del (n.3008-24del) c.1901-24del (n.1901-24del) c.5927-24del (n.5927-24del) c.1679-24del (n.1679-24del) c.4907-24del (n.4907-24del) n.6083-24del | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99699501G>A | CA2502801316 | VPS13B | c.6122-24G>A (n.6122-24G>A) n.6192-24G>A c.*1804-24G>A (n.*1804-24G>A) c.6047-24G>A (n.6047-24G>A) c.6119-24G>A (n.6119-24G>A) c.6044-24G>A (n.6044-24G>A) c.5744-24G>A (n.5744-24G>A) c.3008-24G>A (n.3008-24G>A) c.1901-24G>A (n.1901-24G>A) c.5927-24G>A (n.5927-24G>A) c.1679-24G>A (n.1679-24G>A) c.4907-24G>A (n.4907-24G>A) n.6083-24G>A | |
8 | g.99699501G>C | CA583878377 | VPS13B | c.6122-24G>C (n.6122-24G>C) n.6192-24G>C c.*1804-24G>C (n.*1804-24G>C) c.6047-24G>C (n.6047-24G>C) c.6119-24G>C (n.6119-24G>C) c.6044-24G>C (n.6044-24G>C) c.5744-24G>C (n.5744-24G>C) c.3008-24G>C (n.3008-24G>C) c.1901-24G>C (n.1901-24G>C) c.5927-24G>C (n.5927-24G>C) c.1679-24G>C (n.1679-24G>C) c.4907-24G>C (n.4907-24G>C) n.6083-24G>C | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99699501G= | CA1805814812 | VPS13B | c.6122-24G= (n.6122-24G=) n.6192-24G= c.*1804-24G= (n.*1804-24G=) c.6047-24G= (n.6047-24G=) c.6119-24G= (n.6119-24G=) c.6044-24G= (n.6044-24G=) c.5744-24G= (n.5744-24G=) c.3008-24G= (n.3008-24G=) c.1901-24G= (n.1901-24G=) c.5927-24G= (n.5927-24G=) c.1679-24G= (n.1679-24G=) c.4907-24G= (n.4907-24G=) n.6083-24G= | |
8 | g.99699501G>T | CA2579216021 | VPS13B | c.6122-24G>T (n.6122-24G>T) n.6192-24G>T c.*1804-24G>T (n.*1804-24G>T) c.6047-24G>T (n.6047-24G>T) c.6119-24G>T (n.6119-24G>T) c.6044-24G>T (n.6044-24G>T) c.5744-24G>T (n.5744-24G>T) c.3008-24G>T (n.3008-24G>T) c.1901-24G>T (n.1901-24G>T) c.5927-24G>T (n.5927-24G>T) c.1679-24G>T (n.1679-24G>T) c.4907-24G>T (n.4907-24G>T) n.6083-24G>T | gnomAD v4 |
8 | g.99699503T>G | CA4823925 | VPS13B | c.6122-22T>G (n.6122-22T>G) n.6192-22T>G c.*1804-22T>G (n.*1804-22T>G) c.6047-22T>G (n.6047-22T>G) c.6119-22T>G (n.6119-22T>G) c.6044-22T>G (n.6044-22T>G) c.5744-22T>G (n.5744-22T>G) c.3008-22T>G (n.3008-22T>G) c.1901-22T>G (n.1901-22T>G) c.5927-22T>G (n.5927-22T>G) c.1679-22T>G (n.1679-22T>G) c.4907-22T>G (n.4907-22T>G) n.6083-22T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99699503T= | CA1805814817 | VPS13B | c.6122-22T= (n.6122-22T=) n.6192-22T= c.*1804-22T= (n.*1804-22T=) c.6047-22T= (n.6047-22T=) c.6119-22T= (n.6119-22T=) c.6044-22T= (n.6044-22T=) c.5744-22T= (n.5744-22T=) c.3008-22T= (n.3008-22T=) c.1901-22T= (n.1901-22T=) c.5927-22T= (n.5927-22T=) c.1679-22T= (n.1679-22T=) c.4907-22T= (n.4907-22T=) n.6083-22T= | |
8 | g.99699505T>A | CA4823927 | VPS13B | c.6122-20T>A (n.6122-20T>A) n.6192-20T>A c.*1804-20T>A (n.*1804-20T>A) c.6047-20T>A (n.6047-20T>A) c.6119-20T>A (n.6119-20T>A) c.6044-20T>A (n.6044-20T>A) c.5744-20T>A (n.5744-20T>A) c.3008-20T>A (n.3008-20T>A) c.1901-20T>A (n.1901-20T>A) c.5927-20T>A (n.5927-20T>A) c.1679-20T>A (n.1679-20T>A) c.4907-20T>A (n.4907-20T>A) n.6083-20T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99699505T>C | CA4823926 | VPS13B | c.6122-20T>C (n.6122-20T>C) n.6192-20T>C c.*1804-20T>C (n.*1804-20T>C) c.6047-20T>C (n.6047-20T>C) c.6119-20T>C (n.6119-20T>C) c.6044-20T>C (n.6044-20T>C) c.5744-20T>C (n.5744-20T>C) c.3008-20T>C (n.3008-20T>C) c.1901-20T>C (n.1901-20T>C) c.5927-20T>C (n.5927-20T>C) c.1679-20T>C (n.1679-20T>C) c.4907-20T>C (n.4907-20T>C) n.6083-20T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99699505T>G | CA2688068480 | VPS13B | c.6122-20T>G (n.6122-20T>G) n.6192-20T>G c.*1804-20T>G (n.*1804-20T>G) c.6047-20T>G (n.6047-20T>G) c.6119-20T>G (n.6119-20T>G) c.6044-20T>G (n.6044-20T>G) c.5744-20T>G (n.5744-20T>G) c.3008-20T>G (n.3008-20T>G) c.1901-20T>G (n.1901-20T>G) c.5927-20T>G (n.5927-20T>G) c.1679-20T>G (n.1679-20T>G) c.4907-20T>G (n.4907-20T>G) n.6083-20T>G | gnomAD v4 |
8 | g.99699505T= | CA1805814823 | VPS13B | c.6122-20T= (n.6122-20T=) n.6192-20T= c.*1804-20T= (n.*1804-20T=) c.6047-20T= (n.6047-20T=) c.6119-20T= (n.6119-20T=) c.6044-20T= (n.6044-20T=) c.5744-20T= (n.5744-20T=) c.3008-20T= (n.3008-20T=) c.1901-20T= (n.1901-20T=) c.5927-20T= (n.5927-20T=) c.1679-20T= (n.1679-20T=) c.4907-20T= (n.4907-20T=) n.6083-20T= | |
8 | g.99699508_99699509del | CA2739268929 | VPS13B | c.6122-17_6122-16del (n.6122-17_6122-16del) n.6192-17_6192-16del c.*1804-17_*1804-16del (n.*1804-17_*1804-16del) c.6047-17_6047-16del (n.6047-17_6047-16del) c.6119-17_6119-16del (n.6119-17_6119-16del) c.6044-17_6044-16del (n.6044-17_6044-16del) c.5744-17_5744-16del (n.5744-17_5744-16del) c.3008-17_3008-16del (n.3008-17_3008-16del) c.1901-17_1901-16del (n.1901-17_1901-16del) c.5927-17_5927-16del (n.5927-17_5927-16del) c.1679-17_1679-16del (n.1679-17_1679-16del) c.4907-17_4907-16del (n.4907-17_4907-16del) n.6083-17_6083-16del | ClinVar |
8 | g.99699506C>A | CA2688068482 | VPS13B | c.6122-19C>A (n.6122-19C>A) n.6192-19C>A c.*1804-19C>A (n.*1804-19C>A) c.6047-19C>A (n.6047-19C>A) c.6119-19C>A (n.6119-19C>A) c.6044-19C>A (n.6044-19C>A) c.5744-19C>A (n.5744-19C>A) c.3008-19C>A (n.3008-19C>A) c.1901-19C>A (n.1901-19C>A) c.5927-19C>A (n.5927-19C>A) c.1679-19C>A (n.1679-19C>A) c.4907-19C>A (n.4907-19C>A) n.6083-19C>A | ClinVar gnomAD v4 |
8 | g.99699506C>T | CA2688068481 | VPS13B | c.6122-19C>T (n.6122-19C>T) n.6192-19C>T c.*1804-19C>T (n.*1804-19C>T) c.6047-19C>T (n.6047-19C>T) c.6119-19C>T (n.6119-19C>T) c.6044-19C>T (n.6044-19C>T) c.5744-19C>T (n.5744-19C>T) c.3008-19C>T (n.3008-19C>T) c.1901-19C>T (n.1901-19C>T) c.5927-19C>T (n.5927-19C>T) c.1679-19C>T (n.1679-19C>T) c.4907-19C>T (n.4907-19C>T) n.6083-19C>T | gnomAD v4 |
8 | g.99699507T>C | CA4823928 | VPS13B | c.6122-18T>C (n.6122-18T>C) n.6192-18T>C c.*1804-18T>C (n.*1804-18T>C) c.6047-18T>C (n.6047-18T>C) c.6119-18T>C (n.6119-18T>C) c.6044-18T>C (n.6044-18T>C) c.5744-18T>C (n.5744-18T>C) c.3008-18T>C (n.3008-18T>C) c.1901-18T>C (n.1901-18T>C) c.5927-18T>C (n.5927-18T>C) c.1679-18T>C (n.1679-18T>C) c.4907-18T>C (n.4907-18T>C) n.6083-18T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99699507T= | CA1805814827 | VPS13B | c.6122-18T= (n.6122-18T=) n.6192-18T= c.*1804-18T= (n.*1804-18T=) c.6047-18T= (n.6047-18T=) c.6119-18T= (n.6119-18T=) c.6044-18T= (n.6044-18T=) c.5744-18T= (n.5744-18T=) c.3008-18T= (n.3008-18T=) c.1901-18T= (n.1901-18T=) c.5927-18T= (n.5927-18T=) c.1679-18T= (n.1679-18T=) c.4907-18T= (n.4907-18T=) n.6083-18T= | |
8 | g.99699508C>A | CA1805814832 | VPS13B | c.6122-17C>A (n.6122-17C>A) n.6192-17C>A c.*1804-17C>A (n.*1804-17C>A) c.6047-17C>A (n.6047-17C>A) c.6119-17C>A (n.6119-17C>A) c.6044-17C>A (n.6044-17C>A) c.5744-17C>A (n.5744-17C>A) c.3008-17C>A (n.3008-17C>A) c.1901-17C>A (n.1901-17C>A) c.5927-17C>A (n.5927-17C>A) c.1679-17C>A (n.1679-17C>A) c.4907-17C>A (n.4907-17C>A) n.6083-17C>A | dbSNP |
8 | g.99699508C= | CA1805814831 | VPS13B | c.6122-17C= (n.6122-17C=) n.6192-17C= c.*1804-17C= (n.*1804-17C=) c.6047-17C= (n.6047-17C=) c.6119-17C= (n.6119-17C=) c.6044-17C= (n.6044-17C=) c.5744-17C= (n.5744-17C=) c.3008-17C= (n.3008-17C=) c.1901-17C= (n.1901-17C=) c.5927-17C= (n.5927-17C=) c.1679-17C= (n.1679-17C=) c.4907-17C= (n.4907-17C=) n.6083-17C= | |
8 | g.99699508C>T | CA2688068483 | VPS13B | c.6122-17C>T (n.6122-17C>T) n.6192-17C>T c.*1804-17C>T (n.*1804-17C>T) c.6047-17C>T (n.6047-17C>T) c.6119-17C>T (n.6119-17C>T) c.6044-17C>T (n.6044-17C>T) c.5744-17C>T (n.5744-17C>T) c.3008-17C>T (n.3008-17C>T) c.1901-17C>T (n.1901-17C>T) c.5927-17C>T (n.5927-17C>T) c.1679-17C>T (n.1679-17C>T) c.4907-17C>T (n.4907-17C>T) n.6083-17C>T | gnomAD v4 |
8 | g.99699509T>C | CA1805814837 | VPS13B | c.6122-16T>C (n.6122-16T>C) n.6192-16T>C c.*1804-16T>C (n.*1804-16T>C) c.6047-16T>C (n.6047-16T>C) c.6119-16T>C (n.6119-16T>C) c.6044-16T>C (n.6044-16T>C) c.5744-16T>C (n.5744-16T>C) c.3008-16T>C (n.3008-16T>C) c.1901-16T>C (n.1901-16T>C) c.5927-16T>C (n.5927-16T>C) c.1679-16T>C (n.1679-16T>C) c.4907-16T>C (n.4907-16T>C) n.6083-16T>C | dbSNP |
8 | g.99699509T>G | CA2688068484 | VPS13B | c.6122-16T>G (n.6122-16T>G) n.6192-16T>G c.*1804-16T>G (n.*1804-16T>G) c.6047-16T>G (n.6047-16T>G) c.6119-16T>G (n.6119-16T>G) c.6044-16T>G (n.6044-16T>G) c.5744-16T>G (n.5744-16T>G) c.3008-16T>G (n.3008-16T>G) c.1901-16T>G (n.1901-16T>G) c.5927-16T>G (n.5927-16T>G) c.1679-16T>G (n.1679-16T>G) c.4907-16T>G (n.4907-16T>G) n.6083-16T>G | gnomAD v4 |
8 | g.99699509T= | CA1805814835 | VPS13B | c.6122-16T= (n.6122-16T=) n.6192-16T= c.*1804-16T= (n.*1804-16T=) c.6047-16T= (n.6047-16T=) c.6119-16T= (n.6119-16T=) c.6044-16T= (n.6044-16T=) c.5744-16T= (n.5744-16T=) c.3008-16T= (n.3008-16T=) c.1901-16T= (n.1901-16T=) c.5927-16T= (n.5927-16T=) c.1679-16T= (n.1679-16T=) c.4907-16T= (n.4907-16T=) n.6083-16T= | |
8 | g.99699510T>C | CA1117103780 | VPS13B | c.6122-15T>C (n.6122-15T>C) n.6192-15T>C c.*1804-15T>C (n.*1804-15T>C) c.6047-15T>C (n.6047-15T>C) c.6119-15T>C (n.6119-15T>C) c.6044-15T>C (n.6044-15T>C) c.5744-15T>C (n.5744-15T>C) c.3008-15T>C (n.3008-15T>C) c.1901-15T>C (n.1901-15T>C) c.5927-15T>C (n.5927-15T>C) c.1679-15T>C (n.1679-15T>C) c.4907-15T>C (n.4907-15T>C) n.6083-15T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699510T= | CA1805814842 | VPS13B | c.6122-15T= (n.6122-15T=) n.6192-15T= c.*1804-15T= (n.*1804-15T=) c.6047-15T= (n.6047-15T=) c.6119-15T= (n.6119-15T=) c.6044-15T= (n.6044-15T=) c.5744-15T= (n.5744-15T=) c.3008-15T= (n.3008-15T=) c.1901-15T= (n.1901-15T=) c.5927-15T= (n.5927-15T=) c.1679-15T= (n.1679-15T=) c.4907-15T= (n.4907-15T=) n.6083-15T= | |
8 | g.99699511T>C | CA4823929 | VPS13B | c.6122-14T>C (n.6122-14T>C) n.6192-14T>C c.*1804-14T>C (n.*1804-14T>C) c.6047-14T>C (n.6047-14T>C) c.6119-14T>C (n.6119-14T>C) c.6044-14T>C (n.6044-14T>C) c.5744-14T>C (n.5744-14T>C) c.3008-14T>C (n.3008-14T>C) c.1901-14T>C (n.1901-14T>C) c.5927-14T>C (n.5927-14T>C) c.1679-14T>C (n.1679-14T>C) c.4907-14T>C (n.4907-14T>C) n.6083-14T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99699511T= | CA1805814846 | VPS13B | c.6122-14T= (n.6122-14T=) n.6192-14T= c.*1804-14T= (n.*1804-14T=) c.6047-14T= (n.6047-14T=) c.6119-14T= (n.6119-14T=) c.6044-14T= (n.6044-14T=) c.5744-14T= (n.5744-14T=) c.3008-14T= (n.3008-14T=) c.1901-14T= (n.1901-14T=) c.5927-14T= (n.5927-14T=) c.1679-14T= (n.1679-14T=) c.4907-14T= (n.4907-14T=) n.6083-14T= | |
8 | g.99699514T>C | CA2740095117 | VPS13B | c.6122-11T>C (n.6122-11T>C) n.6192-11T>C c.*1804-11T>C (n.*1804-11T>C) c.6047-11T>C (n.6047-11T>C) c.6119-11T>C (n.6119-11T>C) c.6044-11T>C (n.6044-11T>C) c.5744-11T>C (n.5744-11T>C) c.3008-11T>C (n.3008-11T>C) c.1901-11T>C (n.1901-11T>C) c.5927-11T>C (n.5927-11T>C) c.1679-11T>C (n.1679-11T>C) c.4907-11T>C (n.4907-11T>C) n.6083-11T>C | ClinVar |
8 | g.99699515A= | CA1805814850 | VPS13B | c.6122-10A= (n.6122-10A=) n.6192-10A= c.*1804-10A= (n.*1804-10A=) c.6047-10A= (n.6047-10A=) c.6119-10A= (n.6119-10A=) c.6044-10A= (n.6044-10A=) c.5744-10A= (n.5744-10A=) c.3008-10A= (n.3008-10A=) c.1901-10A= (n.1901-10A=) c.5927-10A= (n.5927-10A=) c.1679-10A= (n.1679-10A=) c.4907-10A= (n.4907-10A=) n.6083-10A= | |
8 | g.99699515A>C | CA2573143584 | VPS13B | c.6122-10A>C (n.6122-10A>C) n.6192-10A>C c.*1804-10A>C (n.*1804-10A>C) c.6047-10A>C (n.6047-10A>C) c.6119-10A>C (n.6119-10A>C) c.6044-10A>C (n.6044-10A>C) c.5744-10A>C (n.5744-10A>C) c.3008-10A>C (n.3008-10A>C) c.1901-10A>C (n.1901-10A>C) c.5927-10A>C (n.5927-10A>C) c.1679-10A>C (n.1679-10A>C) c.4907-10A>C (n.4907-10A>C) n.6083-10A>C | ClinVar dbSNP |
8 | g.99699515A>G | CA183025265 | VPS13B | c.6122-10A>G (n.6122-10A>G) n.6192-10A>G c.*1804-10A>G (n.*1804-10A>G) c.6047-10A>G (n.6047-10A>G) c.6119-10A>G (n.6119-10A>G) c.6044-10A>G (n.6044-10A>G) c.5744-10A>G (n.5744-10A>G) c.3008-10A>G (n.3008-10A>G) c.1901-10A>G (n.1901-10A>G) c.5927-10A>G (n.5927-10A>G) c.1679-10A>G (n.1679-10A>G) c.4907-10A>G (n.4907-10A>G) n.6083-10A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99699515A>T | CA4823930 | VPS13B | c.6122-10A>T (n.6122-10A>T) n.6192-10A>T c.*1804-10A>T (n.*1804-10A>T) c.6047-10A>T (n.6047-10A>T) c.6119-10A>T (n.6119-10A>T) c.6044-10A>T (n.6044-10A>T) c.5744-10A>T (n.5744-10A>T) c.3008-10A>T (n.3008-10A>T) c.1901-10A>T (n.1901-10A>T) c.5927-10A>T (n.5927-10A>T) c.1679-10A>T (n.1679-10A>T) c.4907-10A>T (n.4907-10A>T) n.6083-10A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99699516C= | CA1805814854 | VPS13B | c.6122-9C= (n.6122-9C=) n.6192-9C= c.*1804-9C= (n.*1804-9C=) c.6047-9C= (n.6047-9C=) c.6119-9C= (n.6119-9C=) c.6044-9C= (n.6044-9C=) c.5744-9C= (n.5744-9C=) c.3008-9C= (n.3008-9C=) c.1901-9C= (n.1901-9C=) c.5927-9C= (n.5927-9C=) c.1679-9C= (n.1679-9C=) c.4907-9C= (n.4907-9C=) n.6083-9C= | |
8 | g.99699516C>G | CA1117103785 | VPS13B | c.6122-9C>G (n.6122-9C>G) n.6192-9C>G c.*1804-9C>G (n.*1804-9C>G) c.6047-9C>G (n.6047-9C>G) c.6119-9C>G (n.6119-9C>G) c.6044-9C>G (n.6044-9C>G) c.5744-9C>G (n.5744-9C>G) c.3008-9C>G (n.3008-9C>G) c.1901-9C>G (n.1901-9C>G) c.5927-9C>G (n.5927-9C>G) c.1679-9C>G (n.1679-9C>G) c.4907-9C>G (n.4907-9C>G) n.6083-9C>G | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699516C>T | CA2739268930 | VPS13B | c.6122-9C>T (n.6122-9C>T) n.6192-9C>T c.*1804-9C>T (n.*1804-9C>T) c.6047-9C>T (n.6047-9C>T) c.6119-9C>T (n.6119-9C>T) c.6044-9C>T (n.6044-9C>T) c.5744-9C>T (n.5744-9C>T) c.3008-9C>T (n.3008-9C>T) c.1901-9C>T (n.1901-9C>T) c.5927-9C>T (n.5927-9C>T) c.1679-9C>T (n.1679-9C>T) c.4907-9C>T (n.4907-9C>T) n.6083-9C>T | ClinVar |
8 | g.99699517T>G | CA2688068485 | VPS13B | c.6122-8T>G (n.6122-8T>G) n.6192-8T>G c.*1804-8T>G (n.*1804-8T>G) c.6047-8T>G (n.6047-8T>G) c.6119-8T>G (n.6119-8T>G) c.6044-8T>G (n.6044-8T>G) c.5744-8T>G (n.5744-8T>G) c.3008-8T>G (n.3008-8T>G) c.1901-8T>G (n.1901-8T>G) c.5927-8T>G (n.5927-8T>G) c.1679-8T>G (n.1679-8T>G) c.4907-8T>G (n.4907-8T>G) n.6083-8T>G | gnomAD v4 |
8 | g.99699518_99699524delinsTCTATAG | CA1805814855 | VPS13B | c.6122-7_6122-1delinsTCTATAG (n.6122-7_6122-1delinsTCTATAG) n.6192-7_6192-1delinsTCTATAG c.*1804-7_*1804-1delinsTCTATAG (n.*1804-7_*1804-1delinsTCTATAG) c.6047-7_6047-1delinsTCTATAG (n.6047-7_6047-1delinsTCTATAG) c.6119-7_6119-1delinsTCTATAG (n.6119-7_6119-1delinsTCTATAG) c.6044-7_6044-1delinsTCTATAG (n.6044-7_6044-1delinsTCTATAG) c.5744-7_5744-1delinsTCTATAG (n.5744-7_5744-1delinsTCTATAG) c.3008-7_3008-1delinsTCTATAG (n.3008-7_3008-1delinsTCTATAG) c.1901-7_1901-1delinsTCTATAG (n.1901-7_1901-1delinsTCTATAG) c.5927-7_5927-1delinsTCTATAG (n.5927-7_5927-1delinsTCTATAG) c.1679-7_1679-1delinsTCTATAG (n.1679-7_1679-1delinsTCTATAG) c.4907-7_4907-1delinsTCTATAG (n.4907-7_4907-1delinsTCTATAG) n.6083-7_6083-1delinsTCTATAG | |
8 | g.99699519C= | CA1805814860 | VPS13B | c.6122-6C= (n.6122-6C=) n.6192-6C= c.*1804-6C= (n.*1804-6C=) c.6047-6C= (n.6047-6C=) c.6119-6C= (n.6119-6C=) c.6044-6C= (n.6044-6C=) c.5744-6C= (n.5744-6C=) c.3008-6C= (n.3008-6C=) c.1901-6C= (n.1901-6C=) c.5927-6C= (n.5927-6C=) c.1679-6C= (n.1679-6C=) c.4907-6C= (n.4907-6C=) n.6083-6C= | |
8 | g.99699519C>G | CA2499219467 | VPS13B | c.6122-6C>G (n.6122-6C>G) n.6192-6C>G c.*1804-6C>G (n.*1804-6C>G) c.6047-6C>G (n.6047-6C>G) c.6119-6C>G (n.6119-6C>G) c.6044-6C>G (n.6044-6C>G) c.5744-6C>G (n.5744-6C>G) c.3008-6C>G (n.3008-6C>G) c.1901-6C>G (n.1901-6C>G) c.5927-6C>G (n.5927-6C>G) c.1679-6C>G (n.1679-6C>G) c.4907-6C>G (n.4907-6C>G) n.6083-6C>G | ClinVar dbSNP |
8 | g.99699519C>T | CA583878385 | VPS13B | c.6122-6C>T (n.6122-6C>T) n.6192-6C>T c.*1804-6C>T (n.*1804-6C>T) c.6047-6C>T (n.6047-6C>T) c.6119-6C>T (n.6119-6C>T) c.6044-6C>T (n.6044-6C>T) c.5744-6C>T (n.5744-6C>T) c.3008-6C>T (n.3008-6C>T) c.1901-6C>T (n.1901-6C>T) c.5927-6C>T (n.5927-6C>T) c.1679-6C>T (n.1679-6C>T) c.4907-6C>T (n.4907-6C>T) n.6083-6C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99699520_99699525del | CA16041240 | VPS13B | c.6122-5_6122del n.6192-5_6192del c.*1804-5_*1804del c.6047-5_6047del c.6119-5_6119del c.6044-5_6044del c.5744-5_5744del c.3008-5_3008del c.1901-5_1901del c.5927-5_5927del c.1679-5_1679del c.4907-5_4907del n.6083-5_6083del | ClinVar dbSNP |
8 | g.99699520T>C | CA2580079130 | VPS13B | c.6122-5T>C (n.6122-5T>C) n.6192-5T>C c.*1804-5T>C (n.*1804-5T>C) c.6047-5T>C (n.6047-5T>C) c.6119-5T>C (n.6119-5T>C) c.6044-5T>C (n.6044-5T>C) c.5744-5T>C (n.5744-5T>C) c.3008-5T>C (n.3008-5T>C) c.1901-5T>C (n.1901-5T>C) c.5927-5T>C (n.5927-5T>C) c.1679-5T>C (n.1679-5T>C) c.4907-5T>C (n.4907-5T>C) n.6083-5T>C | ClinVar |
8 | g.99699520T>G | CA2697550036 | VPS13B | c.6122-5T>G (n.6122-5T>G) n.6192-5T>G c.*1804-5T>G (n.*1804-5T>G) c.6047-5T>G (n.6047-5T>G) c.6119-5T>G (n.6119-5T>G) c.6044-5T>G (n.6044-5T>G) c.5744-5T>G (n.5744-5T>G) c.3008-5T>G (n.3008-5T>G) c.1901-5T>G (n.1901-5T>G) c.5927-5T>G (n.5927-5T>G) c.1679-5T>G (n.1679-5T>G) c.4907-5T>G (n.4907-5T>G) n.6083-5T>G | ClinVar |
8 | g.99699521A= | CA1805814864 | VPS13B | c.6122-4A= (n.6122-4A=) n.6192-4A= c.*1804-4A= (n.*1804-4A=) c.6047-4A= (n.6047-4A=) c.6119-4A= (n.6119-4A=) c.6044-4A= (n.6044-4A=) c.5744-4A= (n.5744-4A=) c.3008-4A= (n.3008-4A=) c.1901-4A= (n.1901-4A=) c.5927-4A= (n.5927-4A=) c.1679-4A= (n.1679-4A=) c.4907-4A= (n.4907-4A=) n.6083-4A= | |
8 | g.99699521A>G | CA4823931 | VPS13B | c.6122-4A>G (n.6122-4A>G) n.6192-4A>G c.*1804-4A>G (n.*1804-4A>G) c.6047-4A>G (n.6047-4A>G) c.6119-4A>G (n.6119-4A>G) c.6044-4A>G (n.6044-4A>G) c.5744-4A>G (n.5744-4A>G) c.3008-4A>G (n.3008-4A>G) c.1901-4A>G (n.1901-4A>G) c.5927-4A>G (n.5927-4A>G) c.1679-4A>G (n.1679-4A>G) c.4907-4A>G (n.4907-4A>G) n.6083-4A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99699523A= | CA1805814865 | VPS13B | c.6122-2A= (n.6122-2A=) n.6192-2A= c.*1804-2A= (n.*1804-2A=) c.6047-2A= (n.6047-2A=) c.6119-2A= (n.6119-2A=) c.6044-2A= (n.6044-2A=) c.5744-2A= (n.5744-2A=) c.3008-2A= (n.3008-2A=) c.1901-2A= (n.1901-2A=) c.5927-2A= (n.5927-2A=) c.1679-2A= (n.1679-2A=) c.4907-2A= (n.4907-2A=) n.6083-2A= | |
8 | g.99699523A>C | CA371873707 | VPS13B | c.6122-2A>C (n.6122-2A>C) n.6192-2A>C c.*1804-2A>C (n.*1804-2A>C) c.6047-2A>C (n.6047-2A>C) c.6119-2A>C (n.6119-2A>C) c.6044-2A>C (n.6044-2A>C) c.5744-2A>C (n.5744-2A>C) c.3008-2A>C (n.3008-2A>C) c.1901-2A>C (n.1901-2A>C) c.5927-2A>C (n.5927-2A>C) c.1679-2A>C (n.1679-2A>C) c.4907-2A>C (n.4907-2A>C) n.6083-2A>C | |
8 | g.99699523A>G | CA371873709 | VPS13B | c.6122-2A>G (n.6122-2A>G) n.6192-2A>G c.*1804-2A>G (n.*1804-2A>G) c.6047-2A>G (n.6047-2A>G) c.6119-2A>G (n.6119-2A>G) c.6044-2A>G (n.6044-2A>G) c.5744-2A>G (n.5744-2A>G) c.3008-2A>G (n.3008-2A>G) c.1901-2A>G (n.1901-2A>G) c.5927-2A>G (n.5927-2A>G) c.1679-2A>G (n.1679-2A>G) c.4907-2A>G (n.4907-2A>G) n.6083-2A>G | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99699523A>T | CA371873710 | VPS13B | c.6122-2A>T (n.6122-2A>T) n.6192-2A>T c.*1804-2A>T (n.*1804-2A>T) c.6047-2A>T (n.6047-2A>T) c.6119-2A>T (n.6119-2A>T) c.6044-2A>T (n.6044-2A>T) c.5744-2A>T (n.5744-2A>T) c.3008-2A>T (n.3008-2A>T) c.1901-2A>T (n.1901-2A>T) c.5927-2A>T (n.5927-2A>T) c.1679-2A>T (n.1679-2A>T) c.4907-2A>T (n.4907-2A>T) n.6083-2A>T | |
8 | g.99699524G>A | CA371873713 | VPS13B | c.6122-1G>A (n.6122-1G>A) n.6192-1G>A c.*1804-1G>A (n.*1804-1G>A) c.6047-1G>A (n.6047-1G>A) c.6119-1G>A (n.6119-1G>A) c.6044-1G>A (n.6044-1G>A) c.5744-1G>A (n.5744-1G>A) c.3008-1G>A (n.3008-1G>A) c.1901-1G>A (n.1901-1G>A) c.5927-1G>A (n.5927-1G>A) c.1679-1G>A (n.1679-1G>A) c.4907-1G>A (n.4907-1G>A) n.6083-1G>A | ClinVar dbSNP |
8 | g.99699524G>C | CA4823932 | VPS13B | c.6122-1G>C (n.6122-1G>C) n.6192-1G>C c.*1804-1G>C (n.*1804-1G>C) c.6047-1G>C (n.6047-1G>C) c.6119-1G>C (n.6119-1G>C) c.6044-1G>C (n.6044-1G>C) c.5744-1G>C (n.5744-1G>C) c.3008-1G>C (n.3008-1G>C) c.1901-1G>C (n.1901-1G>C) c.5927-1G>C (n.5927-1G>C) c.1679-1G>C (n.1679-1G>C) c.4907-1G>C (n.4907-1G>C) n.6083-1G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99699524G= | CA1805814867 | VPS13B | c.6122-1G= (n.6122-1G=) n.6192-1G= c.*1804-1G= (n.*1804-1G=) c.6047-1G= (n.6047-1G=) c.6119-1G= (n.6119-1G=) c.6044-1G= (n.6044-1G=) c.5744-1G= (n.5744-1G=) c.3008-1G= (n.3008-1G=) c.1901-1G= (n.1901-1G=) c.5927-1G= (n.5927-1G=) c.1679-1G= (n.1679-1G=) c.4907-1G= (n.4907-1G=) n.6083-1G= | |
8 | g.99699524G>T | CA371873715 | VPS13B | c.6122-1G>T (n.6122-1G>T) n.6192-1G>T c.*1804-1G>T (n.*1804-1G>T) c.6047-1G>T (n.6047-1G>T) c.6119-1G>T (n.6119-1G>T) c.6044-1G>T (n.6044-1G>T) c.5744-1G>T (n.5744-1G>T) c.3008-1G>T (n.3008-1G>T) c.1901-1G>T (n.1901-1G>T) c.5927-1G>T (n.5927-1G>T) c.1679-1G>T (n.1679-1G>T) c.4907-1G>T (n.4907-1G>T) n.6083-1G>T | |
8 | g.99699525C>A | CA371873722 | VPS13B | c.6122C>A (p.Ala2041Glu) n.6192C>A c.*1804C>A (n.*1804C>A) c.6047C>A (p.Ala2016Glu) c.6119C>A (p.Ala2040Glu) c.6044C>A (p.Ala2015Glu) c.5744C>A (p.Ala1915Glu) c.3008C>A (p.Ala1003Glu) c.1901C>A (p.Ala634Glu) c.5927C>A (p.Ala1976Glu) c.1679C>A (p.Ala560Glu) c.4907C>A (p.Ala1636Glu) n.6083C>A | |
8 | g.99699525C= | CA1805814880 | VPS13B | c.6122C= (p.Ala2041=) n.6192C= c.*1804C= (n.*1804C=) c.6047C= (p.Ala2016=) c.6119C= (p.Ala2040=) c.6044C= (p.Ala2015=) c.5744C= (p.Ala1915=) c.3008C= (p.Ala1003=) c.1901C= (p.Ala634=) c.5927C= (p.Ala1976=) c.1679C= (p.Ala560=) c.4907C= (p.Ala1636=) n.6083C= | |
8 | g.99699525C>G | CA371873720 | VPS13B | c.6122C>G (p.Ala2041Gly) n.6192C>G c.*1804C>G (n.*1804C>G) c.6047C>G (p.Ala2016Gly) c.6119C>G (p.Ala2040Gly) c.6044C>G (p.Ala2015Gly) c.5744C>G (p.Ala1915Gly) c.3008C>G (p.Ala1003Gly) c.1901C>G (p.Ala634Gly) c.5927C>G (p.Ala1976Gly) c.1679C>G (p.Ala560Gly) c.4907C>G (p.Ala1636Gly) n.6083C>G | |
8 | g.99699525C>T | CA4823933 | VPS13B | c.6122C>T (p.Ala2041Val) n.6192C>T c.*1804C>T (n.*1804C>T) c.6047C>T (p.Ala2016Val) c.6119C>T (p.Ala2040Val) c.6044C>T (p.Ala2015Val) c.5744C>T (p.Ala1915Val) c.3008C>T (p.Ala1003Val) c.1901C>T (p.Ala634Val) c.5927C>T (p.Ala1976Val) c.1679C>T (p.Ala560Val) c.4907C>T (p.Ala1636Val) n.6083C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.99699526G>A | CA4823934 | VPS13B | c.6123G>A (p.Ala2041=) n.6193G>A c.*1805G>A (n.*1805G>A) c.6048G>A (p.Ala2016=) c.6120G>A (p.Ala2040=) c.6045G>A (p.Ala2015=) c.5745G>A (p.Ala1915=) c.3009G>A (p.Ala1003=) c.1902G>A (p.Ala634=) c.5928G>A (p.Ala1976=) c.1680G>A (p.Ala560=) c.4908G>A (p.Ala1636=) n.6084G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99699526G>C | CA462448592 | VPS13B | c.6123G>C (p.Ala2041=) n.6193G>C c.*1805G>C (n.*1805G>C) c.6048G>C (p.Ala2016=) c.6120G>C (p.Ala2040=) c.6045G>C (p.Ala2015=) c.5745G>C (p.Ala1915=) c.3009G>C (p.Ala1003=) c.1902G>C (p.Ala634=) c.5928G>C (p.Ala1976=) c.1680G>C (p.Ala560=) c.4908G>C (p.Ala1636=) n.6084G>C | |
8 | g.99699526G= | CA1805814884 | VPS13B | c.6123G= (p.Ala2041=) n.6193G= c.*1805G= (n.*1805G=) c.6048G= (p.Ala2016=) c.6120G= (p.Ala2040=) c.6045G= (p.Ala2015=) c.5745G= (p.Ala1915=) c.3009G= (p.Ala1003=) c.1902G= (p.Ala634=) c.5928G= (p.Ala1976=) c.1680G= (p.Ala560=) c.4908G= (p.Ala1636=) n.6084G= | |
8 | g.99699526G>T | CA462448593 | VPS13B | c.6123G>T (p.Ala2041=) n.6193G>T c.*1805G>T (n.*1805G>T) c.6048G>T (p.Ala2016=) c.6120G>T (p.Ala2040=) c.6045G>T (p.Ala2015=) c.5745G>T (p.Ala1915=) c.3009G>T (p.Ala1003=) c.1902G>T (p.Ala634=) c.5928G>T (p.Ala1976=) c.1680G>T (p.Ala560=) c.4908G>T (p.Ala1636=) n.6084G>T | |
8 | g.99699527G>A | CA371873733 | VPS13B | c.6124G>A (p.Asp2042Asn) n.6194G>A c.*1806G>A (n.*1806G>A) c.6049G>A (p.Asp2017Asn) c.6121G>A (p.Asp2041Asn) c.6046G>A (p.Asp2016Asn) c.5746G>A (p.Asp1916Asn) c.3010G>A (p.Asp1004Asn) c.1903G>A (p.Asp635Asn) c.5929G>A (p.Asp1977Asn) c.1681G>A (p.Asp561Asn) c.4909G>A (p.Asp1637Asn) n.6085G>A | gnomAD v4 |
8 | g.99699527G>C | CA371873728 | VPS13B | c.6124G>C (p.Asp2042His) n.6194G>C c.*1806G>C (n.*1806G>C) c.6049G>C (p.Asp2017His) c.6121G>C (p.Asp2041His) c.6046G>C (p.Asp2016His) c.5746G>C (p.Asp1916His) c.3010G>C (p.Asp1004His) c.1903G>C (p.Asp635His) c.5929G>C (p.Asp1977His) c.1681G>C (p.Asp561His) c.4909G>C (p.Asp1637His) n.6085G>C | |
8 | g.99699527G>T | CA371873731 | VPS13B | c.6124G>T (p.Asp2042Tyr) n.6194G>T c.*1806G>T (n.*1806G>T) c.6049G>T (p.Asp2017Tyr) c.6121G>T (p.Asp2041Tyr) c.6046G>T (p.Asp2016Tyr) c.5746G>T (p.Asp1916Tyr) c.3010G>T (p.Asp1004Tyr) c.1903G>T (p.Asp635Tyr) c.5929G>T (p.Asp1977Tyr) c.1681G>T (p.Asp561Tyr) c.4909G>T (p.Asp1637Tyr) n.6085G>T | |
8 | g.99699528A= | CA1805814887 | VPS13B | c.6125A= (p.Asp2042=) n.6195A= c.*1807A= (n.*1807A=) c.6050A= (p.Asp2017=) c.6122A= (p.Asp2041=) c.6047A= (p.Asp2016=) c.5747A= (p.Asp1916=) c.3011A= (p.Asp1004=) c.1904A= (p.Asp635=) c.5930A= (p.Asp1977=) c.1682A= (p.Asp561=) c.4910A= (p.Asp1637=) n.6086A= | |
8 | g.99699528A>C | CA371873734 | VPS13B | c.6125A>C (p.Asp2042Ala) n.6195A>C c.*1807A>C (n.*1807A>C) c.6050A>C (p.Asp2017Ala) c.6122A>C (p.Asp2041Ala) c.6047A>C (p.Asp2016Ala) c.5747A>C (p.Asp1916Ala) c.3011A>C (p.Asp1004Ala) c.1904A>C (p.Asp635Ala) c.5930A>C (p.Asp1977Ala) c.1682A>C (p.Asp561Ala) c.4910A>C (p.Asp1637Ala) n.6086A>C | dbSNP gnomAD v2 |
8 | g.99699528A>G | CA371873735 | VPS13B | c.6125A>G (p.Asp2042Gly) n.6195A>G c.*1807A>G (n.*1807A>G) c.6050A>G (p.Asp2017Gly) c.6122A>G (p.Asp2041Gly) c.6047A>G (p.Asp2016Gly) c.5747A>G (p.Asp1916Gly) c.3011A>G (p.Asp1004Gly) c.1904A>G (p.Asp635Gly) c.5930A>G (p.Asp1977Gly) c.1682A>G (p.Asp561Gly) c.4910A>G (p.Asp1637Gly) n.6086A>G | ClinVar dbSNP gnomAD v4 |
8 | g.99699528A>T | CA371873736 | VPS13B | c.6125A>T (p.Asp2042Val) n.6195A>T c.*1807A>T (n.*1807A>T) c.6050A>T (p.Asp2017Val) c.6122A>T (p.Asp2041Val) c.6047A>T (p.Asp2016Val) c.5747A>T (p.Asp1916Val) c.3011A>T (p.Asp1004Val) c.1904A>T (p.Asp635Val) c.5930A>T (p.Asp1977Val) c.1682A>T (p.Asp561Val) c.4910A>T (p.Asp1637Val) n.6086A>T | |
8 | g.99699529T>A | CA371873737 | VPS13B | c.6126T>A (p.Asp2042Glu) n.6196T>A c.*1808T>A (n.*1808T>A) c.6051T>A (p.Asp2017Glu) c.6123T>A (p.Asp2041Glu) c.6048T>A (p.Asp2016Glu) c.5748T>A (p.Asp1916Glu) c.3012T>A (p.Asp1004Glu) c.1905T>A (p.Asp635Glu) c.5931T>A (p.Asp1977Glu) c.1683T>A (p.Asp561Glu) c.4911T>A (p.Asp1637Glu) n.6087T>A | |
8 | g.99699529T>C | CA462448594 | VPS13B | c.6126T>C (p.Asp2042=) n.6196T>C c.*1808T>C (n.*1808T>C) c.6051T>C (p.Asp2017=) c.6123T>C (p.Asp2041=) c.6048T>C (p.Asp2016=) c.5748T>C (p.Asp1916=) c.3012T>C (p.Asp1004=) c.1905T>C (p.Asp635=) c.5931T>C (p.Asp1977=) c.1683T>C (p.Asp561=) c.4911T>C (p.Asp1637=) n.6087T>C | |
8 | g.99699529T>G | CA371873738 | VPS13B | c.6126T>G (p.Asp2042Glu) n.6196T>G c.*1808T>G (n.*1808T>G) c.6051T>G (p.Asp2017Glu) c.6123T>G (p.Asp2041Glu) c.6048T>G (p.Asp2016Glu) c.5748T>G (p.Asp1916Glu) c.3012T>G (p.Asp1004Glu) c.1905T>G (p.Asp635Glu) c.5931T>G (p.Asp1977Glu) c.1683T>G (p.Asp561Glu) c.4911T>G (p.Asp1637Glu) n.6087T>G | |
8 | g.99699530G>A | CA371873739 | VPS13B | c.6127G>A (p.Val2043Ile) n.6197G>A c.*1809G>A (n.*1809G>A) c.6052G>A (p.Val2018Ile) c.6124G>A (p.Val2042Ile) c.6049G>A (p.Val2017Ile) c.5749G>A (p.Val1917Ile) c.3013G>A (p.Val1005Ile) c.1906G>A (p.Val636Ile) c.5932G>A (p.Val1978Ile) c.1684G>A (p.Val562Ile) c.4912G>A (p.Val1638Ile) n.6088G>A | ClinVar dbSNP |
8 | g.99699530G>C | CA371873741 | VPS13B | c.6127G>C (p.Val2043Leu) n.6197G>C c.*1809G>C (n.*1809G>C) c.6052G>C (p.Val2018Leu) c.6124G>C (p.Val2042Leu) c.6049G>C (p.Val2017Leu) c.5749G>C (p.Val1917Leu) c.3013G>C (p.Val1005Leu) c.1906G>C (p.Val636Leu) c.5932G>C (p.Val1978Leu) c.1684G>C (p.Val562Leu) c.4912G>C (p.Val1638Leu) n.6088G>C | |
8 | g.99699530G>T | CA371873746 | VPS13B | c.6127G>T (p.Val2043Phe) n.6197G>T c.*1809G>T (n.*1809G>T) c.6052G>T (p.Val2018Phe) c.6124G>T (p.Val2042Phe) c.6049G>T (p.Val2017Phe) c.5749G>T (p.Val1917Phe) c.3013G>T (p.Val1005Phe) c.1906G>T (p.Val636Phe) c.5932G>T (p.Val1978Phe) c.1684G>T (p.Val562Phe) c.4912G>T (p.Val1638Phe) n.6088G>T | |
8 | g.99699531T>A | CA371873748 | VPS13B | c.6128T>A (p.Val2043Asp) n.6198T>A c.*1810T>A (n.*1810T>A) c.6053T>A (p.Val2018Asp) c.6125T>A (p.Val2042Asp) c.6050T>A (p.Val2017Asp) c.5750T>A (p.Val1917Asp) c.3014T>A (p.Val1005Asp) c.1907T>A (p.Val636Asp) c.5933T>A (p.Val1978Asp) c.1685T>A (p.Val562Asp) c.4913T>A (p.Val1638Asp) n.6089T>A | |
8 | g.99699531T>C | CA4823935 | VPS13B | c.6128T>C (p.Val2043Ala) n.6198T>C c.*1810T>C (n.*1810T>C) c.6053T>C (p.Val2018Ala) c.6125T>C (p.Val2042Ala) c.6050T>C (p.Val2017Ala) c.5750T>C (p.Val1917Ala) c.3014T>C (p.Val1005Ala) c.1907T>C (p.Val636Ala) c.5933T>C (p.Val1978Ala) c.1685T>C (p.Val562Ala) c.4913T>C (p.Val1638Ala) n.6089T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99699531T>G | CA371873752 | VPS13B | c.6128T>G (p.Val2043Gly) n.6198T>G c.*1810T>G (n.*1810T>G) c.6053T>G (p.Val2018Gly) c.6125T>G (p.Val2042Gly) c.6050T>G (p.Val2017Gly) c.5750T>G (p.Val1917Gly) c.3014T>G (p.Val1005Gly) c.1907T>G (p.Val636Gly) c.5933T>G (p.Val1978Gly) c.1685T>G (p.Val562Gly) c.4913T>G (p.Val1638Gly) n.6089T>G | |
8 | g.99699531T= | CA1805814895 | VPS13B | c.6128T= (p.Val2043=) n.6198T= c.*1810T= (n.*1810T=) c.6053T= (p.Val2018=) c.6125T= (p.Val2042=) c.6050T= (p.Val2017=) c.5750T= (p.Val1917=) c.3014T= (p.Val1005=) c.1907T= (p.Val636=) c.5933T= (p.Val1978=) c.1685T= (p.Val562=) c.4913T= (p.Val1638=) n.6089T= | |
8 | g.99699532C>A | CA462448600 | VPS13B | c.6129C>A (p.Val2043=) n.6199C>A c.*1811C>A (n.*1811C>A) c.6054C>A (p.Val2018=) c.6126C>A (p.Val2042=) c.6051C>A (p.Val2017=) c.5751C>A (p.Val1917=) c.3015C>A (p.Val1005=) c.1908C>A (p.Val636=) c.5934C>A (p.Val1978=) c.1686C>A (p.Val562=) c.4914C>A (p.Val1638=) n.6090C>A | |
8 | g.99699532C>G | CA462448599 | VPS13B | c.6129C>G (p.Val2043=) n.6199C>G c.*1811C>G (n.*1811C>G) c.6054C>G (p.Val2018=) c.6126C>G (p.Val2042=) c.6051C>G (p.Val2017=) c.5751C>G (p.Val1917=) c.3015C>G (p.Val1005=) c.1908C>G (p.Val636=) c.5934C>G (p.Val1978=) c.1686C>G (p.Val562=) c.4914C>G (p.Val1638=) n.6090C>G | ClinVar gnomAD v4 |
8 | g.99699532C>T | CA462448598 | VPS13B | c.6129C>T (p.Val2043=) n.6199C>T c.*1811C>T (n.*1811C>T) c.6054C>T (p.Val2018=) c.6126C>T (p.Val2042=) c.6051C>T (p.Val2017=) c.5751C>T (p.Val1917=) c.3015C>T (p.Val1005=) c.1908C>T (p.Val636=) c.5934C>T (p.Val1978=) c.1686C>T (p.Val562=) c.4914C>T (p.Val1638=) n.6090C>T | |
8 | g.99699533A>C | CA371873755 | VPS13B | c.6130A>C (p.Asn2044His) n.6200A>C c.*1812A>C (n.*1812A>C) c.6055A>C (p.Asn2019His) c.6127A>C (p.Asn2043His) c.6052A>C (p.Asn2018His) c.5752A>C (p.Asn1918His) c.3016A>C (p.Asn1006His) c.1909A>C (p.Asn637His) c.5935A>C (p.Asn1979His) c.1687A>C (p.Asn563His) c.4915A>C (p.Asn1639His) n.6091A>C | |
8 | g.99699533A>G | CA371873762 | VPS13B | c.6130A>G (p.Asn2044Asp) n.6200A>G c.*1812A>G (n.*1812A>G) c.6055A>G (p.Asn2019Asp) c.6127A>G (p.Asn2043Asp) c.6052A>G (p.Asn2018Asp) c.5752A>G (p.Asn1918Asp) c.3016A>G (p.Asn1006Asp) c.1909A>G (p.Asn637Asp) c.5935A>G (p.Asn1979Asp) c.1687A>G (p.Asn563Asp) c.4915A>G (p.Asn1639Asp) n.6091A>G | |
8 | g.99699533A>T | CA371873759 | VPS13B | c.6130A>T (p.Asn2044Tyr) n.6200A>T c.*1812A>T (n.*1812A>T) c.6055A>T (p.Asn2019Tyr) c.6127A>T (p.Asn2043Tyr) c.6052A>T (p.Asn2018Tyr) c.5752A>T (p.Asn1918Tyr) c.3016A>T (p.Asn1006Tyr) c.1909A>T (p.Asn637Tyr) c.5935A>T (p.Asn1979Tyr) c.1687A>T (p.Asn563Tyr) c.4915A>T (p.Asn1639Tyr) n.6091A>T | |
8 | g.99699534A= | CA1805814906 | VPS13B | c.6131A= (p.Asn2044=) n.6201A= c.*1813A= (n.*1813A=) c.6056A= (p.Asn2019=) c.6128A= (p.Asn2043=) c.6053A= (p.Asn2018=) c.5753A= (p.Asn1918=) c.3017A= (p.Asn1006=) c.1910A= (p.Asn637=) c.5936A= (p.Asn1979=) c.1688A= (p.Asn563=) c.4916A= (p.Asn1639=) n.6092A= | |
8 | g.99699534A>C | CA371873765 | VPS13B | c.6131A>C (p.Asn2044Thr) n.6201A>C c.*1813A>C (n.*1813A>C) c.6056A>C (p.Asn2019Thr) c.6128A>C (p.Asn2043Thr) c.6053A>C (p.Asn2018Thr) c.5753A>C (p.Asn1918Thr) c.3017A>C (p.Asn1006Thr) c.1910A>C (p.Asn637Thr) c.5936A>C (p.Asn1979Thr) c.1688A>C (p.Asn563Thr) c.4916A>C (p.Asn1639Thr) n.6092A>C | |
8 | g.99699534A>G | CA4823936 | VPS13B | c.6131A>G (p.Asn2044Ser) n.6201A>G c.*1813A>G (n.*1813A>G) c.6056A>G (p.Asn2019Ser) c.6128A>G (p.Asn2043Ser) c.6053A>G (p.Asn2018Ser) c.5753A>G (p.Asn1918Ser) c.3017A>G (p.Asn1006Ser) c.1910A>G (p.Asn637Ser) c.5936A>G (p.Asn1979Ser) c.1688A>G (p.Asn563Ser) c.4916A>G (p.Asn1639Ser) n.6092A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.99699534A>T | CA371873767 | VPS13B | c.6131A>T (p.Asn2044Ile) n.6201A>T c.*1813A>T (n.*1813A>T) c.6056A>T (p.Asn2019Ile) c.6128A>T (p.Asn2043Ile) c.6053A>T (p.Asn2018Ile) c.5753A>T (p.Asn1918Ile) c.3017A>T (p.Asn1006Ile) c.1910A>T (p.Asn637Ile) c.5936A>T (p.Asn1979Ile) c.1688A>T (p.Asn563Ile) c.4916A>T (p.Asn1639Ile) n.6092A>T | |
8 | g.99699535T>A | CA371873770 | VPS13B | c.6132T>A (p.Asn2044Lys) n.6202T>A c.*1814T>A (n.*1814T>A) c.6057T>A (p.Asn2019Lys) c.6129T>A (p.Asn2043Lys) c.6054T>A (p.Asn2018Lys) c.5754T>A (p.Asn1918Lys) c.3018T>A (p.Asn1006Lys) c.1911T>A (p.Asn637Lys) c.5937T>A (p.Asn1979Lys) c.1689T>A (p.Asn563Lys) c.4917T>A (p.Asn1639Lys) n.6093T>A | |
8 | g.99699535T>C | CA462448602 | VPS13B | c.6132T>C (p.Asn2044=) n.6202T>C c.*1814T>C (n.*1814T>C) c.6057T>C (p.Asn2019=) c.6129T>C (p.Asn2043=) c.6054T>C (p.Asn2018=) c.5754T>C (p.Asn1918=) c.3018T>C (p.Asn1006=) c.1911T>C (p.Asn637=) c.5937T>C (p.Asn1979=) c.1689T>C (p.Asn563=) c.4917T>C (p.Asn1639=) n.6093T>C | ClinVar |
8 | g.99699535T>G | CA371873772 | VPS13B | c.6132T>G (p.Asn2044Lys) n.6202T>G c.*1814T>G (n.*1814T>G) c.6057T>G (p.Asn2019Lys) c.6129T>G (p.Asn2043Lys) c.6054T>G (p.Asn2018Lys) c.5754T>G (p.Asn1918Lys) c.3018T>G (p.Asn1006Lys) c.1911T>G (p.Asn637Lys) c.5937T>G (p.Asn1979Lys) c.1689T>G (p.Asn563Lys) c.4917T>G (p.Asn1639Lys) n.6093T>G | |
8 | g.99699536T>A | CA371873773 | VPS13B | c.6133T>A (p.Leu2045Met) n.6203T>A c.*1815T>A (n.*1815T>A) c.6058T>A (p.Leu2020Met) c.6130T>A (p.Leu2044Met) c.6055T>A (p.Leu2019Met) c.5755T>A (p.Leu1919Met) c.3019T>A (p.Leu1007Met) c.1912T>A (p.Leu638Met) c.5938T>A (p.Leu1980Met) c.1690T>A (p.Leu564Met) c.4918T>A (p.Leu1640Met) n.6094T>A | gnomAD v4 |
8 | g.99699536T>C | CA4823937 | VPS13B | c.6133T>C (p.Leu2045=) n.6203T>C c.*1815T>C (n.*1815T>C) c.6058T>C (p.Leu2020=) c.6130T>C (p.Leu2044=) c.6055T>C (p.Leu2019=) c.5755T>C (p.Leu1919=) c.3019T>C (p.Leu1007=) c.1912T>C (p.Leu638=) c.5938T>C (p.Leu1980=) c.1690T>C (p.Leu564=) c.4918T>C (p.Leu1640=) n.6094T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99699536T>G | CA371873776 | VPS13B | c.6133T>G (p.Leu2045Val) n.6203T>G c.*1815T>G (n.*1815T>G) c.6058T>G (p.Leu2020Val) c.6130T>G (p.Leu2044Val) c.6055T>G (p.Leu2019Val) c.5755T>G (p.Leu1919Val) c.3019T>G (p.Leu1007Val) c.1912T>G (p.Leu638Val) c.5938T>G (p.Leu1980Val) c.1690T>G (p.Leu564Val) c.4918T>G (p.Leu1640Val) n.6094T>G | |
8 | g.99699536T= | CA1805814909 | VPS13B | c.6133T= (p.Leu2045=) n.6203T= c.*1815T= (n.*1815T=) c.6058T= (p.Leu2020=) c.6130T= (p.Leu2044=) c.6055T= (p.Leu2019=) c.5755T= (p.Leu1919=) c.3019T= (p.Leu1007=) c.1912T= (p.Leu638=) c.5938T= (p.Leu1980=) c.1690T= (p.Leu564=) c.4918T= (p.Leu1640=) n.6094T= | |
8 | g.99699537T>A | CA371873779 | VPS13B | c.6134T>A (p.Leu2045Ter) n.6204T>A c.*1816T>A (n.*1816T>A) c.6059T>A (p.Leu2020Ter) c.6131T>A (p.Leu2044Ter) c.6056T>A (p.Leu2019Ter) c.5756T>A (p.Leu1919Ter) c.3020T>A (p.Leu1007Ter) c.1913T>A (p.Leu638Ter) c.5939T>A (p.Leu1980Ter) c.1691T>A (p.Leu564Ter) c.4919T>A (p.Leu1640Ter) n.6095T>A | |
8 | g.99699537T>C | CA371873783 | VPS13B | c.6134T>C (p.Leu2045Ser) n.6204T>C c.*1816T>C (n.*1816T>C) c.6059T>C (p.Leu2020Ser) c.6131T>C (p.Leu2044Ser) c.6056T>C (p.Leu2019Ser) c.5756T>C (p.Leu1919Ser) c.3020T>C (p.Leu1007Ser) c.1913T>C (p.Leu638Ser) c.5939T>C (p.Leu1980Ser) c.1691T>C (p.Leu564Ser) c.4919T>C (p.Leu1640Ser) n.6095T>C | |
8 | g.99699537T>G | CA371873785 | VPS13B | c.6134T>G (p.Leu2045Trp) n.6204T>G c.*1816T>G (n.*1816T>G) c.6059T>G (p.Leu2020Trp) c.6131T>G (p.Leu2044Trp) c.6056T>G (p.Leu2019Trp) c.5756T>G (p.Leu1919Trp) c.3020T>G (p.Leu1007Trp) c.1913T>G (p.Leu638Trp) c.5939T>G (p.Leu1980Trp) c.1691T>G (p.Leu564Trp) c.4919T>G (p.Leu1640Trp) n.6095T>G | gnomAD v4 |
8 | g.99699538G>A | CA462448604 | VPS13B | c.6135G>A (p.Leu2045=) n.6205G>A c.*1817G>A (n.*1817G>A) c.6060G>A (p.Leu2020=) c.6132G>A (p.Leu2044=) c.6057G>A (p.Leu2019=) c.5757G>A (p.Leu1919=) c.3021G>A (p.Leu1007=) c.1914G>A (p.Leu638=) c.5940G>A (p.Leu1980=) c.1692G>A (p.Leu564=) c.4920G>A (p.Leu1640=) n.6096G>A | dbSNP gnomAD v4 |
8 | g.99699538G>C | CA371873791 | VPS13B | c.6135G>C (p.Leu2045Phe) n.6205G>C c.*1817G>C (n.*1817G>C) c.6060G>C (p.Leu2020Phe) c.6132G>C (p.Leu2044Phe) c.6057G>C (p.Leu2019Phe) c.5757G>C (p.Leu1919Phe) c.3021G>C (p.Leu1007Phe) c.1914G>C (p.Leu638Phe) c.5940G>C (p.Leu1980Phe) c.1692G>C (p.Leu564Phe) c.4920G>C (p.Leu1640Phe) n.6096G>C | |
8 | g.99699538G= | CA1805814916 | VPS13B | c.6135G= (p.Leu2045=) n.6205G= c.*1817G= (n.*1817G=) c.6060G= (p.Leu2020=) c.6132G= (p.Leu2044=) c.6057G= (p.Leu2019=) c.5757G= (p.Leu1919=) c.3021G= (p.Leu1007=) c.1914G= (p.Leu638=) c.5940G= (p.Leu1980=) c.1692G= (p.Leu564=) c.4920G= (p.Leu1640=) n.6096G= | |
8 | g.99699538G>T | CA371873788 | VPS13B | c.6135G>T (p.Leu2045Phe) n.6205G>T c.*1817G>T (n.*1817G>T) c.6060G>T (p.Leu2020Phe) c.6132G>T (p.Leu2044Phe) c.6057G>T (p.Leu2019Phe) c.5757G>T (p.Leu1919Phe) c.3021G>T (p.Leu1007Phe) c.1914G>T (p.Leu638Phe) c.5940G>T (p.Leu1980Phe) c.1692G>T (p.Leu564Phe) c.4920G>T (p.Leu1640Phe) n.6096G>T | |
8 | g.99699539G>A | CA371873794 | VPS13B | c.6136G>A (p.Asp2046Asn) n.6206G>A c.*1818G>A (n.*1818G>A) c.6061G>A (p.Asp2021Asn) c.6133G>A (p.Asp2045Asn) c.6058G>A (p.Asp2020Asn) c.5758G>A (p.Asp1920Asn) c.3022G>A (p.Asp1008Asn) c.1915G>A (p.Asp639Asn) c.5941G>A (p.Asp1981Asn) c.1693G>A (p.Asp565Asn) c.4921G>A (p.Asp1641Asn) n.6097G>A | gnomAD v4 |
8 | g.99699539G>C | CA371873797 | VPS13B | c.6136G>C (p.Asp2046His) n.6206G>C c.*1818G>C (n.*1818G>C) c.6061G>C (p.Asp2021His) c.6133G>C (p.Asp2045His) c.6058G>C (p.Asp2020His) c.5758G>C (p.Asp1920His) c.3022G>C (p.Asp1008His) c.1915G>C (p.Asp639His) c.5941G>C (p.Asp1981His) c.1693G>C (p.Asp565His) c.4921G>C (p.Asp1641His) n.6097G>C | |
8 | g.99699539G= | CA1805814922 | VPS13B | c.6136G= (p.Asp2046=) n.6206G= c.*1818G= (n.*1818G=) c.6061G= (p.Asp2021=) c.6133G= (p.Asp2045=) c.6058G= (p.Asp2020=) c.5758G= (p.Asp1920=) c.3022G= (p.Asp1008=) c.1915G= (p.Asp639=) c.5941G= (p.Asp1981=) c.1693G= (p.Asp565=) c.4921G= (p.Asp1641=) n.6097G= | |
8 | g.99699539G>T | CA371873800 | VPS13B | c.6136G>T (p.Asp2046Tyr) n.6206G>T c.*1818G>T (n.*1818G>T) c.6061G>T (p.Asp2021Tyr) c.6133G>T (p.Asp2045Tyr) c.6058G>T (p.Asp2020Tyr) c.5758G>T (p.Asp1920Tyr) c.3022G>T (p.Asp1008Tyr) c.1915G>T (p.Asp639Tyr) c.5941G>T (p.Asp1981Tyr) c.1693G>T (p.Asp565Tyr) c.4921G>T (p.Asp1641Tyr) n.6097G>T | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99699540A>C | CA371873803 | VPS13B | c.6137A>C (p.Asp2046Ala) n.6207A>C c.*1819A>C (n.*1819A>C) c.6062A>C (p.Asp2021Ala) c.6134A>C (p.Asp2045Ala) c.6059A>C (p.Asp2020Ala) c.5759A>C (p.Asp1920Ala) c.3023A>C (p.Asp1008Ala) c.1916A>C (p.Asp639Ala) c.5942A>C (p.Asp1981Ala) c.1694A>C (p.Asp565Ala) c.4922A>C (p.Asp1641Ala) n.6098A>C | |
8 | g.99699540A>G | CA371873806 | VPS13B | c.6137A>G (p.Asp2046Gly) n.6207A>G c.*1819A>G (n.*1819A>G) c.6062A>G (p.Asp2021Gly) c.6134A>G (p.Asp2045Gly) c.6059A>G (p.Asp2020Gly) c.5759A>G (p.Asp1920Gly) c.3023A>G (p.Asp1008Gly) c.1916A>G (p.Asp639Gly) c.5942A>G (p.Asp1981Gly) c.1694A>G (p.Asp565Gly) c.4922A>G (p.Asp1641Gly) n.6098A>G | gnomAD v4 |
8 | g.99699540A>T | CA371873808 | VPS13B | c.6137A>T (p.Asp2046Val) n.6207A>T c.*1819A>T (n.*1819A>T) c.6062A>T (p.Asp2021Val) c.6134A>T (p.Asp2045Val) c.6059A>T (p.Asp2020Val) c.5759A>T (p.Asp1920Val) c.3023A>T (p.Asp1008Val) c.1916A>T (p.Asp639Val) c.5942A>T (p.Asp1981Val) c.1694A>T (p.Asp565Val) c.4922A>T (p.Asp1641Val) n.6098A>T | gnomAD v4 |
8 | g.99699541T>A | CA371873810 | VPS13B | c.6138T>A (p.Asp2046Glu) n.6208T>A c.*1820T>A (n.*1820T>A) c.6063T>A (p.Asp2021Glu) c.6135T>A (p.Asp2045Glu) c.6060T>A (p.Asp2020Glu) c.5760T>A (p.Asp1920Glu) c.3024T>A (p.Asp1008Glu) c.1917T>A (p.Asp639Glu) c.5943T>A (p.Asp1981Glu) c.1695T>A (p.Asp565Glu) c.4923T>A (p.Asp1641Glu) n.6099T>A | |
8 | g.99699541T>C | CA183025276 | VPS13B | c.6138T>C (p.Asp2046=) n.6208T>C c.*1820T>C (n.*1820T>C) c.6063T>C (p.Asp2021=) c.6135T>C (p.Asp2045=) c.6060T>C (p.Asp2020=) c.5760T>C (p.Asp1920=) c.3024T>C (p.Asp1008=) c.1917T>C (p.Asp639=) c.5943T>C (p.Asp1981=) c.1695T>C (p.Asp565=) c.4923T>C (p.Asp1641=) n.6099T>C | ClinVar dbSNP gnomAD v4 |
8 | g.99699541T>G | CA371873813 | VPS13B | c.6138T>G (p.Asp2046Glu) n.6208T>G c.*1820T>G (n.*1820T>G) c.6063T>G (p.Asp2021Glu) c.6135T>G (p.Asp2045Glu) c.6060T>G (p.Asp2020Glu) c.5760T>G (p.Asp1920Glu) c.3024T>G (p.Asp1008Glu) c.1917T>G (p.Asp639Glu) c.5943T>G (p.Asp1981Glu) c.1695T>G (p.Asp565Glu) c.4923T>G (p.Asp1641Glu) n.6099T>G | |
8 | g.99699541T= | CA1805814930 | VPS13B | c.6138T= (p.Asp2046=) n.6208T= c.*1820T= (n.*1820T=) c.6063T= (p.Asp2021=) c.6135T= (p.Asp2045=) c.6060T= (p.Asp2020=) c.5760T= (p.Asp1920=) c.3024T= (p.Asp1008=) c.1917T= (p.Asp639=) c.5943T= (p.Asp1981=) c.1695T= (p.Asp565=) c.4923T= (p.Asp1641=) n.6099T= | |
8 | g.99699542A>C | CA371873817 | VPS13B | c.6139A>C (p.Ile2047Leu) n.6209A>C c.*1821A>C (n.*1821A>C) c.6064A>C (p.Ile2022Leu) c.6136A>C (p.Ile2046Leu) c.6061A>C (p.Ile2021Leu) c.5761A>C (p.Ile1921Leu) c.3025A>C (p.Ile1009Leu) c.1918A>C (p.Ile640Leu) c.5944A>C (p.Ile1982Leu) c.1696A>C (p.Ile566Leu) c.4924A>C (p.Ile1642Leu) n.6100A>C | |
8 | g.99699542A>G | CA371873818 | VPS13B | c.6139A>G (p.Ile2047Val) n.6209A>G c.*1821A>G (n.*1821A>G) c.6064A>G (p.Ile2022Val) c.6136A>G (p.Ile2046Val) c.6061A>G (p.Ile2021Val) c.5761A>G (p.Ile1921Val) c.3025A>G (p.Ile1009Val) c.1918A>G (p.Ile640Val) c.5944A>G (p.Ile1982Val) c.1696A>G (p.Ile566Val) c.4924A>G (p.Ile1642Val) n.6100A>G | |
8 | g.99699542A>T | CA371873821 | VPS13B | c.6139A>T (p.Ile2047Leu) n.6209A>T c.*1821A>T (n.*1821A>T) c.6064A>T (p.Ile2022Leu) c.6136A>T (p.Ile2046Leu) c.6061A>T (p.Ile2021Leu) c.5761A>T (p.Ile1921Leu) c.3025A>T (p.Ile1009Leu) c.1918A>T (p.Ile640Leu) c.5944A>T (p.Ile1982Leu) c.1696A>T (p.Ile566Leu) c.4924A>T (p.Ile1642Leu) n.6100A>T | |
8 | g.99699543T>A | CA371873823 | VPS13B | c.6140T>A (p.Ile2047Lys) n.6210T>A c.*1822T>A (n.*1822T>A) c.6065T>A (p.Ile2022Lys) c.6137T>A (p.Ile2046Lys) c.6062T>A (p.Ile2021Lys) c.5762T>A (p.Ile1921Lys) c.3026T>A (p.Ile1009Lys) c.1919T>A (p.Ile640Lys) c.5945T>A (p.Ile1982Lys) c.1697T>A (p.Ile566Lys) c.4925T>A (p.Ile1642Lys) n.6101T>A | |
8 | g.99699543T>C | CA183025278 | VPS13B | c.6140T>C (p.Ile2047Thr) n.6210T>C c.*1822T>C (n.*1822T>C) c.6065T>C (p.Ile2022Thr) c.6137T>C (p.Ile2046Thr) c.6062T>C (p.Ile2021Thr) c.5762T>C (p.Ile1921Thr) c.3026T>C (p.Ile1009Thr) c.1919T>C (p.Ile640Thr) c.5945T>C (p.Ile1982Thr) c.1697T>C (p.Ile566Thr) c.4925T>C (p.Ile1642Thr) n.6101T>C | dbSNP gnomAD v4 |
8 | g.99699543T>G | CA371873828 | VPS13B | c.6140T>G (p.Ile2047Arg) n.6210T>G c.*1822T>G (n.*1822T>G) c.6065T>G (p.Ile2022Arg) c.6137T>G (p.Ile2046Arg) c.6062T>G (p.Ile2021Arg) c.5762T>G (p.Ile1921Arg) c.3026T>G (p.Ile1009Arg) c.1919T>G (p.Ile640Arg) c.5945T>G (p.Ile1982Arg) c.1697T>G (p.Ile566Arg) c.4925T>G (p.Ile1642Arg) n.6101T>G | |
8 | g.99699543T= | CA1805814934 | VPS13B | c.6140T= (p.Ile2047=) n.6210T= c.*1822T= (n.*1822T=) c.6065T= (p.Ile2022=) c.6137T= (p.Ile2046=) c.6062T= (p.Ile2021=) c.5762T= (p.Ile1921=) c.3026T= (p.Ile1009=) c.1919T= (p.Ile640=) c.5945T= (p.Ile1982=) c.1697T= (p.Ile566=) c.4925T= (p.Ile1642=) n.6101T= | |
8 | g.99699544A>C | CA462448605 | VPS13B | c.6141A>C (p.Ile2047=) n.6211A>C c.*1823A>C (n.*1823A>C) c.6066A>C (p.Ile2022=) c.6138A>C (p.Ile2046=) c.6063A>C (p.Ile2021=) c.5763A>C (p.Ile1921=) c.3027A>C (p.Ile1009=) c.1920A>C (p.Ile640=) c.5946A>C (p.Ile1982=) c.1698A>C (p.Ile566=) c.4926A>C (p.Ile1642=) n.6102A>C | |
8 | g.99699544A>G | CA371873831 | VPS13B | c.6141A>G (p.Ile2047Met) n.6211A>G c.*1823A>G (n.*1823A>G) c.6066A>G (p.Ile2022Met) c.6138A>G (p.Ile2046Met) c.6063A>G (p.Ile2021Met) c.5763A>G (p.Ile1921Met) c.3027A>G (p.Ile1009Met) c.1920A>G (p.Ile640Met) c.5946A>G (p.Ile1982Met) c.1698A>G (p.Ile566Met) c.4926A>G (p.Ile1642Met) n.6102A>G | |
8 | g.99699544A>T | CA462448606 | VPS13B | c.6141A>T (p.Ile2047=) n.6211A>T c.*1823A>T (n.*1823A>T) c.6066A>T (p.Ile2022=) c.6138A>T (p.Ile2046=) c.6063A>T (p.Ile2021=) c.5763A>T (p.Ile1921=) c.3027A>T (p.Ile1009=) c.1920A>T (p.Ile640=) c.5946A>T (p.Ile1982=) c.1698A>T (p.Ile566=) c.4926A>T (p.Ile1642=) n.6102A>T | |
8 | g.99699545T>A | CA371873834 | VPS13B | c.6142T>A (p.Ser2048Thr) n.6212T>A c.*1824T>A (n.*1824T>A) c.6067T>A (p.Ser2023Thr) c.6139T>A (p.Ser2047Thr) c.6064T>A (p.Ser2022Thr) c.5764T>A (p.Ser1922Thr) c.3028T>A (p.Ser1010Thr) c.1921T>A (p.Ser641Thr) c.5947T>A (p.Ser1983Thr) c.1699T>A (p.Ser567Thr) c.4927T>A (p.Ser1643Thr) n.6103T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
8 | g.99699545T>C | CA371873837 | VPS13B | c.6142T>C (p.Ser2048Pro) n.6212T>C c.*1824T>C (n.*1824T>C) c.6067T>C (p.Ser2023Pro) c.6139T>C (p.Ser2047Pro) c.6064T>C (p.Ser2022Pro) c.5764T>C (p.Ser1922Pro) c.3028T>C (p.Ser1010Pro) c.1921T>C (p.Ser641Pro) c.5947T>C (p.Ser1983Pro) c.1699T>C (p.Ser567Pro) c.4927T>C (p.Ser1643Pro) n.6103T>C | |
8 | g.99699545T>G | CA371873844 | VPS13B | c.6142T>G (p.Ser2048Ala) n.6212T>G c.*1824T>G (n.*1824T>G) c.6067T>G (p.Ser2023Ala) c.6139T>G (p.Ser2047Ala) c.6064T>G (p.Ser2022Ala) c.5764T>G (p.Ser1922Ala) c.3028T>G (p.Ser1010Ala) c.1921T>G (p.Ser641Ala) c.5947T>G (p.Ser1983Ala) c.1699T>G (p.Ser567Ala) c.4927T>G (p.Ser1643Ala) n.6103T>G | |
8 | g.99699545T= | CA1805814942 | VPS13B | c.6142T= (p.Ser2048=) n.6212T= c.*1824T= (n.*1824T=) c.6067T= (p.Ser2023=) c.6139T= (p.Ser2047=) c.6064T= (p.Ser2022=) c.5764T= (p.Ser1922=) c.3028T= (p.Ser1010=) c.1921T= (p.Ser641=) c.5947T= (p.Ser1983=) c.1699T= (p.Ser567=) c.4927T= (p.Ser1643=) n.6103T= | |
8 | g.99699546C>A | CA371873848 | VPS13B | c.6143C>A (p.Ser2048Ter) n.6213C>A c.*1825C>A (n.*1825C>A) c.6068C>A (p.Ser2023Ter) c.6140C>A (p.Ser2047Ter) c.6065C>A (p.Ser2022Ter) c.5765C>A (p.Ser1922Ter) c.3029C>A (p.Ser1010Ter) c.1922C>A (p.Ser641Ter) c.5948C>A (p.Ser1983Ter) c.1700C>A (p.Ser567Ter) c.4928C>A (p.Ser1643Ter) n.6104C>A | |
8 | g.99699546C>G | CA371873850 | VPS13B | c.6143C>G (p.Ser2048Ter) n.6213C>G c.*1825C>G (n.*1825C>G) c.6068C>G (p.Ser2023Ter) c.6140C>G (p.Ser2047Ter) c.6065C>G (p.Ser2022Ter) c.5765C>G (p.Ser1922Ter) c.3029C>G (p.Ser1010Ter) c.1922C>G (p.Ser641Ter) c.5948C>G (p.Ser1983Ter) c.1700C>G (p.Ser567Ter) c.4928C>G (p.Ser1643Ter) n.6104C>G | ClinVar |
8 | g.99699546C>T | CA371873855 | VPS13B | c.6143C>T (p.Ser2048Leu) n.6213C>T c.*1825C>T (n.*1825C>T) c.6068C>T (p.Ser2023Leu) c.6140C>T (p.Ser2047Leu) c.6065C>T (p.Ser2022Leu) c.5765C>T (p.Ser1922Leu) c.3029C>T (p.Ser1010Leu) c.1922C>T (p.Ser641Leu) c.5948C>T (p.Ser1983Leu) c.1700C>T (p.Ser567Leu) c.4928C>T (p.Ser1643Leu) n.6104C>T | gnomAD v4 |
8 | g.99699547A= | CA1805814945 | VPS13B | c.6144A= (p.Ser2048=) n.6214A= c.*1826A= (n.*1826A=) c.6069A= (p.Ser2023=) c.6141A= (p.Ser2047=) c.6066A= (p.Ser2022=) c.5766A= (p.Ser1922=) c.3030A= (p.Ser1010=) c.1923A= (p.Ser641=) c.5949A= (p.Ser1983=) c.1701A= (p.Ser567=) c.4929A= (p.Ser1643=) n.6105A= | |
8 | g.99699547A>C | CA462448607 | VPS13B | c.6144A>C (p.Ser2048=) n.6214A>C c.*1826A>C (n.*1826A>C) c.6069A>C (p.Ser2023=) c.6141A>C (p.Ser2047=) c.6066A>C (p.Ser2022=) c.5766A>C (p.Ser1922=) c.3030A>C (p.Ser1010=) c.1923A>C (p.Ser641=) c.5949A>C (p.Ser1983=) c.1701A>C (p.Ser567=) c.4929A>C (p.Ser1643=) n.6105A>C | |
8 | g.99699547A>G | CA4823938 | VPS13B | c.6144A>G (p.Ser2048=) n.6214A>G c.*1826A>G (n.*1826A>G) c.6069A>G (p.Ser2023=) c.6141A>G (p.Ser2047=) c.6066A>G (p.Ser2022=) c.5766A>G (p.Ser1922=) c.3030A>G (p.Ser1010=) c.1923A>G (p.Ser641=) c.5949A>G (p.Ser1983=) c.1701A>G (p.Ser567=) c.4929A>G (p.Ser1643=) n.6105A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99699547A>T | CA462448608 | VPS13B | c.6144A>T (p.Ser2048=) n.6214A>T c.*1826A>T (n.*1826A>T) c.6069A>T (p.Ser2023=) c.6141A>T (p.Ser2047=) c.6066A>T (p.Ser2022=) c.5766A>T (p.Ser1922=) c.3030A>T (p.Ser1010=) c.1923A>T (p.Ser641=) c.5949A>T (p.Ser1983=) c.1701A>T (p.Ser567=) c.4929A>T (p.Ser1643=) n.6105A>T | |
8 | g.99699548A>C | CA371873860 | VPS13B | c.6145A>C (p.Lys2049Gln) n.6215A>C c.*1827A>C (n.*1827A>C) c.6070A>C (p.Lys2024Gln) c.6142A>C (p.Lys2048Gln) c.6067A>C (p.Lys2023Gln) c.5767A>C (p.Lys1923Gln) c.3031A>C (p.Lys1011Gln) c.1924A>C (p.Lys642Gln) c.5950A>C (p.Lys1984Gln) c.1702A>C (p.Lys568Gln) c.4930A>C (p.Lys1644Gln) n.6106A>C | |
8 | g.99699548A>G | CA371873861 | VPS13B | c.6145A>G (p.Lys2049Glu) n.6215A>G c.*1827A>G (n.*1827A>G) c.6070A>G (p.Lys2024Glu) c.6142A>G (p.Lys2048Glu) c.6067A>G (p.Lys2023Glu) c.5767A>G (p.Lys1923Glu) c.3031A>G (p.Lys1011Glu) c.1924A>G (p.Lys642Glu) c.5950A>G (p.Lys1984Glu) c.1702A>G (p.Lys568Glu) c.4930A>G (p.Lys1644Glu) n.6106A>G | |
8 | g.99699548A>T | CA371873863 | VPS13B | c.6145A>T (p.Lys2049Ter) n.6215A>T c.*1827A>T (n.*1827A>T) c.6070A>T (p.Lys2024Ter) c.6142A>T (p.Lys2048Ter) c.6067A>T (p.Lys2023Ter) c.5767A>T (p.Lys1923Ter) c.3031A>T (p.Lys1011Ter) c.1924A>T (p.Lys642Ter) c.5950A>T (p.Lys1984Ter) c.1702A>T (p.Lys568Ter) c.4930A>T (p.Lys1644Ter) n.6106A>T | |
8 | g.99699549A>C | CA371873865 | VPS13B | c.6146A>C (p.Lys2049Thr) n.6216A>C c.*1828A>C (n.*1828A>C) c.6071A>C (p.Lys2024Thr) c.6143A>C (p.Lys2048Thr) c.6068A>C (p.Lys2023Thr) c.5768A>C (p.Lys1923Thr) c.3032A>C (p.Lys1011Thr) c.1925A>C (p.Lys642Thr) c.5951A>C (p.Lys1984Thr) c.1703A>C (p.Lys568Thr) c.4931A>C (p.Lys1644Thr) n.6107A>C | |
8 | g.99699549A>G | CA371873867 | VPS13B | c.6146A>G (p.Lys2049Arg) n.6216A>G c.*1828A>G (n.*1828A>G) c.6071A>G (p.Lys2024Arg) c.6143A>G (p.Lys2048Arg) c.6068A>G (p.Lys2023Arg) c.5768A>G (p.Lys1923Arg) c.3032A>G (p.Lys1011Arg) c.1925A>G (p.Lys642Arg) c.5951A>G (p.Lys1984Arg) c.1703A>G (p.Lys568Arg) c.4931A>G (p.Lys1644Arg) n.6107A>G | |
8 | g.99699549A>T | CA371873871 | VPS13B | c.6146A>T (p.Lys2049Met) n.6216A>T c.*1828A>T (n.*1828A>T) c.6071A>T (p.Lys2024Met) c.6143A>T (p.Lys2048Met) c.6068A>T (p.Lys2023Met) c.5768A>T (p.Lys1923Met) c.3032A>T (p.Lys1011Met) c.1925A>T (p.Lys642Met) c.5951A>T (p.Lys1984Met) c.1703A>T (p.Lys568Met) c.4931A>T (p.Lys1644Met) n.6107A>T | |
8 | g.99699550G>A | CA4823939 | VPS13B | c.6147G>A (p.Lys2049=) n.6217G>A c.*1829G>A (n.*1829G>A) c.6072G>A (p.Lys2024=) c.6144G>A (p.Lys2048=) c.6069G>A (p.Lys2023=) c.5769G>A (p.Lys1923=) c.3033G>A (p.Lys1011=) c.1926G>A (p.Lys642=) c.5952G>A (p.Lys1984=) c.1704G>A (p.Lys568=) c.4932G>A (p.Lys1644=) n.6108G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99699550G>C | CA371873878 | VPS13B | c.6147G>C (p.Lys2049Asn) n.6217G>C c.*1829G>C (n.*1829G>C) c.6072G>C (p.Lys2024Asn) c.6144G>C (p.Lys2048Asn) c.6069G>C (p.Lys2023Asn) c.5769G>C (p.Lys1923Asn) c.3033G>C (p.Lys1011Asn) c.1926G>C (p.Lys642Asn) c.5952G>C (p.Lys1984Asn) c.1704G>C (p.Lys568Asn) c.4932G>C (p.Lys1644Asn) n.6108G>C | gnomAD v4 |
8 | g.99699550G= | CA1805814953 | VPS13B | c.6147G= (p.Lys2049=) n.6217G= c.*1829G= (n.*1829G=) c.6072G= (p.Lys2024=) c.6144G= (p.Lys2048=) c.6069G= (p.Lys2023=) c.5769G= (p.Lys1923=) c.3033G= (p.Lys1011=) c.1926G= (p.Lys642=) c.5952G= (p.Lys1984=) c.1704G= (p.Lys568=) c.4932G= (p.Lys1644=) n.6108G= | |
8 | g.99699550G>T | CA371873875 | VPS13B | c.6147G>T (p.Lys2049Asn) n.6217G>T c.*1829G>T (n.*1829G>T) c.6072G>T (p.Lys2024Asn) c.6144G>T (p.Lys2048Asn) c.6069G>T (p.Lys2023Asn) c.5769G>T (p.Lys1923Asn) c.3033G>T (p.Lys1011Asn) c.1926G>T (p.Lys642Asn) c.5952G>T (p.Lys1984Asn) c.1704G>T (p.Lys568Asn) c.4932G>T (p.Lys1644Asn) n.6108G>T | |
8 | g.99699551C>A | CA371873882 | VPS13B | c.6148C>A (p.Pro2050Thr) n.6218C>A c.*1830C>A (n.*1830C>A) c.6073C>A (p.Pro2025Thr) c.6145C>A (p.Pro2049Thr) c.6070C>A (p.Pro2024Thr) c.5770C>A (p.Pro1924Thr) c.3034C>A (p.Pro1012Thr) c.1927C>A (p.Pro643Thr) c.5953C>A (p.Pro1985Thr) c.1705C>A (p.Pro569Thr) c.4933C>A (p.Pro1645Thr) n.6109C>A | |
8 | g.99699551C= | CA1805814955 | VPS13B | c.6148C= (p.Pro2050=) n.6218C= c.*1830C= (n.*1830C=) c.6073C= (p.Pro2025=) c.6145C= (p.Pro2049=) c.6070C= (p.Pro2024=) c.5770C= (p.Pro1924=) c.3034C= (p.Pro1012=) c.1927C= (p.Pro643=) c.5953C= (p.Pro1985=) c.1705C= (p.Pro569=) c.4933C= (p.Pro1645=) n.6109C= | |
8 | g.99699551C>G | CA4823940 | VPS13B | c.6148C>G (p.Pro2050Ala) n.6218C>G c.*1830C>G (n.*1830C>G) c.6073C>G (p.Pro2025Ala) c.6145C>G (p.Pro2049Ala) c.6070C>G (p.Pro2024Ala) c.5770C>G (p.Pro1924Ala) c.3034C>G (p.Pro1012Ala) c.1927C>G (p.Pro643Ala) c.5953C>G (p.Pro1985Ala) c.1705C>G (p.Pro569Ala) c.4933C>G (p.Pro1645Ala) n.6109C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99699551C>T | CA371873885 | VPS13B | c.6148C>T (p.Pro2050Ser) n.6218C>T c.*1830C>T (n.*1830C>T) c.6073C>T (p.Pro2025Ser) c.6145C>T (p.Pro2049Ser) c.6070C>T (p.Pro2024Ser) c.5770C>T (p.Pro1924Ser) c.3034C>T (p.Pro1012Ser) c.1927C>T (p.Pro643Ser) c.5953C>T (p.Pro1985Ser) c.1705C>T (p.Pro569Ser) c.4933C>T (p.Pro1645Ser) n.6109C>T | |
8 | g.99699552del | CA2739268931 | VPS13B | c.6149del (p.Pro2050LeufsTer2) n.6219del c.*1831del (n.*1831del) c.6074del (p.Pro2025LeufsTer2) c.6146del (p.Pro2049LeufsTer2) c.6071del (p.Pro2024LeufsTer2) c.5771del (p.Pro1924LeufsTer2) c.3035del (p.Pro1012LeufsTer2) c.1928del (p.Pro643LeufsTer2) c.5954del (p.Pro1985LeufsTer2) c.1706del (p.Pro569LeufsTer2) c.4934del (p.Pro1645LeufsTer2) n.6110del | ClinVar |
8 | g.99699552C>A | CA371873888 | VPS13B | c.6149C>A (p.Pro2050His) n.6219C>A c.*1831C>A (n.*1831C>A) c.6074C>A (p.Pro2025His) c.6146C>A (p.Pro2049His) c.6071C>A (p.Pro2024His) c.5771C>A (p.Pro1924His) c.3035C>A (p.Pro1012His) c.1928C>A (p.Pro643His) c.5954C>A (p.Pro1985His) c.1706C>A (p.Pro569His) c.4934C>A (p.Pro1645His) n.6110C>A | |
8 | g.99699552C>G | CA371873893 | VPS13B | c.6149C>G (p.Pro2050Arg) n.6219C>G c.*1831C>G (n.*1831C>G) c.6074C>G (p.Pro2025Arg) c.6146C>G (p.Pro2049Arg) c.6071C>G (p.Pro2024Arg) c.5771C>G (p.Pro1924Arg) c.3035C>G (p.Pro1012Arg) c.1928C>G (p.Pro643Arg) c.5954C>G (p.Pro1985Arg) c.1706C>G (p.Pro569Arg) c.4934C>G (p.Pro1645Arg) n.6110C>G | |
8 | g.99699552C>T | CA371873890 | VPS13B | c.6149C>T (p.Pro2050Leu) n.6219C>T c.*1831C>T (n.*1831C>T) c.6074C>T (p.Pro2025Leu) c.6146C>T (p.Pro2049Leu) c.6071C>T (p.Pro2024Leu) c.5771C>T (p.Pro1924Leu) c.3035C>T (p.Pro1012Leu) c.1928C>T (p.Pro643Leu) c.5954C>T (p.Pro1985Leu) c.1706C>T (p.Pro569Leu) c.4934C>T (p.Pro1645Leu) n.6110C>T | gnomAD v4 |
8 | g.99699553T>A | CA462448610 | VPS13B | c.6150T>A (p.Pro2050=) n.6220T>A c.*1832T>A (n.*1832T>A) c.6075T>A (p.Pro2025=) c.6147T>A (p.Pro2049=) c.6072T>A (p.Pro2024=) c.5772T>A (p.Pro1924=) c.3036T>A (p.Pro1012=) c.1929T>A (p.Pro643=) c.5955T>A (p.Pro1985=) c.1707T>A (p.Pro569=) c.4935T>A (p.Pro1645=) n.6111T>A | |
8 | g.99699553T>C | CA462448611 | VPS13B | c.6150T>C (p.Pro2050=) n.6220T>C c.*1832T>C (n.*1832T>C) c.6075T>C (p.Pro2025=) c.6147T>C (p.Pro2049=) c.6072T>C (p.Pro2024=) c.5772T>C (p.Pro1924=) c.3036T>C (p.Pro1012=) c.1929T>C (p.Pro643=) c.5955T>C (p.Pro1985=) c.1707T>C (p.Pro569=) c.4935T>C (p.Pro1645=) n.6111T>C | |
8 | g.99699553T>G | CA462448613 | VPS13B | c.6150T>G (p.Pro2050=) n.6220T>G c.*1832T>G (n.*1832T>G) c.6075T>G (p.Pro2025=) c.6147T>G (p.Pro2049=) c.6072T>G (p.Pro2024=) c.5772T>G (p.Pro1924=) c.3036T>G (p.Pro1012=) c.1929T>G (p.Pro643=) c.5955T>G (p.Pro1985=) c.1707T>G (p.Pro569=) c.4935T>G (p.Pro1645=) n.6111T>G | |
8 | g.99699554T>A | CA371873895 | VPS13B | c.6151T>A (p.Leu2051Met) n.6221T>A c.*1833T>A (n.*1833T>A) c.6076T>A (p.Leu2026Met) c.6148T>A (p.Leu2050Met) c.6073T>A (p.Leu2025Met) c.5773T>A (p.Leu1925Met) c.3037T>A (p.Leu1013Met) c.1930T>A (p.Leu644Met) c.5956T>A (p.Leu1986Met) c.1708T>A (p.Leu570Met) c.4936T>A (p.Leu1646Met) n.6112T>A | gnomAD v4 |
8 | g.99699554T>C | CA462448614 | VPS13B | c.6151T>C (p.Leu2051=) n.6221T>C c.*1833T>C (n.*1833T>C) c.6076T>C (p.Leu2026=) c.6148T>C (p.Leu2050=) c.6073T>C (p.Leu2025=) c.5773T>C (p.Leu1925=) c.3037T>C (p.Leu1013=) c.1930T>C (p.Leu644=) c.5956T>C (p.Leu1986=) c.1708T>C (p.Leu570=) c.4936T>C (p.Leu1646=) n.6112T>C | |
8 | g.99699554T>G | CA371873896 | VPS13B | c.6151T>G (p.Leu2051Val) n.6221T>G c.*1833T>G (n.*1833T>G) c.6076T>G (p.Leu2026Val) c.6148T>G (p.Leu2050Val) c.6073T>G (p.Leu2025Val) c.5773T>G (p.Leu1925Val) c.3037T>G (p.Leu1013Val) c.1930T>G (p.Leu644Val) c.5956T>G (p.Leu1986Val) c.1708T>G (p.Leu570Val) c.4936T>G (p.Leu1646Val) n.6112T>G | |
8 | g.99699555T>A | CA371873901 | VPS13B | c.6152T>A (p.Leu2051Ter) n.6222T>A c.*1834T>A (n.*1834T>A) c.6077T>A (p.Leu2026Ter) c.6149T>A (p.Leu2050Ter) c.6074T>A (p.Leu2025Ter) c.5774T>A (p.Leu1925Ter) c.3038T>A (p.Leu1013Ter) c.1931T>A (p.Leu644Ter) c.5957T>A (p.Leu1986Ter) c.1709T>A (p.Leu570Ter) c.4937T>A (p.Leu1646Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99699555T>C | CA371873903 | VPS13B | c.6152T>C (p.Leu2051Ser) n.6222T>C c.*1834T>C (n.*1834T>C) c.6077T>C (p.Leu2026Ser) c.6149T>C (p.Leu2050Ser) c.6074T>C (p.Leu2025Ser) c.5774T>C (p.Leu1925Ser) c.3038T>C (p.Leu1013Ser) c.1931T>C (p.Leu644Ser) c.5957T>C (p.Leu1986Ser) c.1709T>C (p.Leu570Ser) c.4937T>C (p.Leu1646Ser) | |
8 | g.99699555T>G | CA371873906 | VPS13B | c.6152T>G (p.Leu2051Trp) n.6222T>G c.*1834T>G (n.*1834T>G) c.6077T>G (p.Leu2026Trp) c.6149T>G (p.Leu2050Trp) c.6074T>G (p.Leu2025Trp) c.5774T>G (p.Leu1925Trp) c.3038T>G (p.Leu1013Trp) c.1931T>G (p.Leu644Trp) c.5957T>G (p.Leu1986Trp) c.1709T>G (p.Leu570Trp) c.4937T>G (p.Leu1646Trp) | |
8 | g.99699555T= | CA1805814960 | VPS13B | c.6152T= (p.Leu2051=) n.6222T= c.*1834T= (n.*1834T=) c.6077T= (p.Leu2026=) c.6149T= (p.Leu2050=) c.6074T= (p.Leu2025=) c.5774T= (p.Leu1925=) c.3038T= (p.Leu1013=) c.1931T= (p.Leu644=) c.5957T= (p.Leu1986=) c.1709T= (p.Leu570=) c.4937T= (p.Leu1646=) | |
8 | g.99699556G>A | CA462448615 | VPS13B | c.6153G>A (p.Leu2051=) n.6223G>A c.*1835G>A (n.*1835G>A) c.6078G>A (p.Leu2026=) c.6150G>A (p.Leu2050=) c.6075G>A (p.Leu2025=) c.5775G>A (p.Leu1925=) c.3039G>A (p.Leu1013=) c.1932G>A (p.Leu644=) c.5958G>A (p.Leu1986=) c.1710G>A (p.Leu570=) c.4938G>A (p.Leu1646=) | |
8 | g.99699556G>C | CA371873907 | VPS13B | c.6153G>C (p.Leu2051Phe) n.6223G>C c.*1835G>C (n.*1835G>C) c.6078G>C (p.Leu2026Phe) c.6150G>C (p.Leu2050Phe) c.6075G>C (p.Leu2025Phe) c.5775G>C (p.Leu1925Phe) c.3039G>C (p.Leu1013Phe) c.1932G>C (p.Leu644Phe) c.5958G>C (p.Leu1986Phe) c.1710G>C (p.Leu570Phe) c.4938G>C (p.Leu1646Phe) | |
8 | g.99699556G>T | CA371873908 | VPS13B | c.6153G>T (p.Leu2051Phe) n.6223G>T c.*1835G>T (n.*1835G>T) c.6078G>T (p.Leu2026Phe) c.6150G>T (p.Leu2050Phe) c.6075G>T (p.Leu2025Phe) c.5775G>T (p.Leu1925Phe) c.3039G>T (p.Leu1013Phe) c.1932G>T (p.Leu644Phe) c.5958G>T (p.Leu1986Phe) c.1710G>T (p.Leu570Phe) c.4938G>T (p.Leu1646Phe) | |
8 | g.99699557A>C | CA371873909 | VPS13B | c.6154A>C (p.Lys2052Gln) n.6224A>C c.*1836A>C (n.*1836A>C) c.6079A>C (p.Lys2027Gln) c.6151A>C (p.Lys2051Gln) c.6076A>C (p.Lys2026Gln) c.5776A>C (p.Lys1926Gln) c.3040A>C (p.Lys1014Gln) c.1933A>C (p.Lys645Gln) c.5959A>C (p.Lys1987Gln) c.1711A>C (p.Lys571Gln) c.4939A>C (p.Lys1647Gln) | gnomAD v4 |
8 | g.99699557A>G | CA371873911 | VPS13B | c.6154A>G (p.Lys2052Glu) n.6224A>G c.*1836A>G (n.*1836A>G) c.6079A>G (p.Lys2027Glu) c.6151A>G (p.Lys2051Glu) c.6076A>G (p.Lys2026Glu) c.5776A>G (p.Lys1926Glu) c.3040A>G (p.Lys1014Glu) c.1933A>G (p.Lys645Glu) c.5959A>G (p.Lys1987Glu) c.1711A>G (p.Lys571Glu) c.4939A>G (p.Lys1647Glu) | |
8 | g.99699557A>T | CA371873915 | VPS13B | c.6154A>T (p.Lys2052Ter) n.6224A>T c.*1836A>T (n.*1836A>T) c.6079A>T (p.Lys2027Ter) c.6151A>T (p.Lys2051Ter) c.6076A>T (p.Lys2026Ter) c.5776A>T (p.Lys1926Ter) c.3040A>T (p.Lys1014Ter) c.1933A>T (p.Lys645Ter) c.5959A>T (p.Lys1987Ter) c.1711A>T (p.Lys571Ter) c.4939A>T (p.Lys1647Ter) | |
8 | g.99699558A>C | CA371873924 | VPS13B | c.6155A>C (p.Lys2052Thr) n.6225A>C c.*1837A>C (n.*1837A>C) c.6080A>C (p.Lys2027Thr) c.6152A>C (p.Lys2051Thr) c.6077A>C (p.Lys2026Thr) c.5777A>C (p.Lys1926Thr) c.3041A>C (p.Lys1014Thr) c.1934A>C (p.Lys645Thr) c.5960A>C (p.Lys1987Thr) c.1712A>C (p.Lys571Thr) c.4940A>C (p.Lys1647Thr) | |
8 | g.99699558A>G | CA371873920 | VPS13B | c.6155A>G (p.Lys2052Arg) n.6225A>G c.*1837A>G (n.*1837A>G) c.6080A>G (p.Lys2027Arg) c.6152A>G (p.Lys2051Arg) c.6077A>G (p.Lys2026Arg) c.5777A>G (p.Lys1926Arg) c.3041A>G (p.Lys1014Arg) c.1934A>G (p.Lys645Arg) c.5960A>G (p.Lys1987Arg) c.1712A>G (p.Lys571Arg) c.4940A>G (p.Lys1647Arg) | |
8 | g.99699558A>T | CA371873917 | VPS13B | c.6155A>T (p.Lys2052Ile) n.6225A>T c.*1837A>T (n.*1837A>T) c.6080A>T (p.Lys2027Ile) c.6152A>T (p.Lys2051Ile) c.6077A>T (p.Lys2026Ile) c.5777A>T (p.Lys1926Ile) c.3041A>T (p.Lys1014Ile) c.1934A>T (p.Lys645Ile) c.5960A>T (p.Lys1987Ile) c.1712A>T (p.Lys571Ile) c.4940A>T (p.Lys1647Ile) | |
8 | g.99699559A= | CA1805814977 | VPS13B | c.6156A= (p.Lys2052=) n.6226A= c.*1838A= (n.*1838A=) c.6081A= (p.Lys2027=) c.6153A= (p.Lys2051=) c.6078A= (p.Lys2026=) c.5778A= (p.Lys1926=) c.3042A= (p.Lys1014=) c.1935A= (p.Lys645=) c.5961A= (p.Lys1987=) c.1713A= (p.Lys571=) c.4941A= (p.Lys1647=) | |
8 | g.99699559A>C | CA371873926 | VPS13B | c.6156A>C (p.Lys2052Asn) n.6226A>C c.*1838A>C (n.*1838A>C) c.6081A>C (p.Lys2027Asn) c.6153A>C (p.Lys2051Asn) c.6078A>C (p.Lys2026Asn) c.5778A>C (p.Lys1926Asn) c.3042A>C (p.Lys1014Asn) c.1935A>C (p.Lys645Asn) c.5961A>C (p.Lys1987Asn) c.1713A>C (p.Lys571Asn) c.4941A>C (p.Lys1647Asn) | |
8 | g.99699559A>G | CA183025283 | VPS13B | c.6156A>G (p.Lys2052=) n.6226A>G c.*1838A>G (n.*1838A>G) c.6081A>G (p.Lys2027=) c.6153A>G (p.Lys2051=) c.6078A>G (p.Lys2026=) c.5778A>G (p.Lys1926=) c.3042A>G (p.Lys1014=) c.1935A>G (p.Lys645=) c.5961A>G (p.Lys1987=) c.1713A>G (p.Lys571=) c.4941A>G (p.Lys1647=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699559A>T | CA371873929 | VPS13B | c.6156A>T (p.Lys2052Asn) n.6226A>T c.*1838A>T (n.*1838A>T) c.6081A>T (p.Lys2027Asn) c.6153A>T (p.Lys2051Asn) c.6078A>T (p.Lys2026Asn) c.5778A>T (p.Lys1926Asn) c.3042A>T (p.Lys1014Asn) c.1935A>T (p.Lys645Asn) c.5961A>T (p.Lys1987Asn) c.1713A>T (p.Lys571Asn) c.4941A>T (p.Lys1647Asn) | |
8 | g.99699559_99699560del | CA913128130 | VPS13B | c.6156_6157del (p.Lys2052AsnfsTer27) n.6226_6227del c.*1838_*1839del (n.*1838_*1839del) c.6081_6082del (p.Lys2027AsnfsTer27) c.6153_6154del (p.Lys2051AsnfsTer27) c.6078_6079del (p.Lys2026AsnfsTer27) c.5778_5779del (p.Lys1926AsnfsTer27) c.3042_3043del (p.Lys1014AsnfsTer27) c.1935_1936del (p.Lys645AsnfsTer27) c.5961_5962del (p.Lys1987AsnfsTer27) c.1713_1714del (p.Lys571AsnfsTer27) c.4941_4942del (p.Lys1647AsnfsTer27) | |
8 | g.99699559_99699560delinsAG | CA1805814978 | VPS13B | c.6156_6157delinsAG (p.Lys2052=) n.6226_6227delinsAG c.*1838_*1839delinsAG (n.*1838_*1839delinsAG) c.6081_6082delinsAG (p.Lys2027=) c.6153_6154delinsAG (p.Lys2051=) c.6078_6079delinsAG (p.Lys2026=) c.5778_5779delinsAG (p.Lys1926=) c.3042_3043delinsAG (p.Lys1014=) c.1935_1936delinsAG (p.Lys645=) c.5961_5962delinsAG (p.Lys1987=) c.1713_1714delinsAG (p.Lys571=) c.4941_4942delinsAG (p.Lys1647=) | |
8 | g.99699560del | CA658823169 | VPS13B | c.6157del (p.Ala2053GlnfsTer3) n.6227del c.*1839del (n.*1839del) c.6082del (p.Ala2028GlnfsTer3) c.6154del (p.Ala2052GlnfsTer3) c.6079del (p.Ala2027GlnfsTer3) c.5779del (p.Ala1927GlnfsTer3) c.3043del (p.Ala1015GlnfsTer3) c.1936del (p.Ala646GlnfsTer3) c.5962del (p.Ala1988GlnfsTer3) c.1714del (p.Ala572GlnfsTer3) c.4942del (p.Ala1648GlnfsTer3) | ClinVar dbSNP |
8 | g.99699560G>A | CA371873931 | VPS13B | c.6157G>A (p.Ala2053Thr) n.6227G>A c.*1839G>A (n.*1839G>A) c.6082G>A (p.Ala2028Thr) c.6154G>A (p.Ala2052Thr) c.6079G>A (p.Ala2027Thr) c.5779G>A (p.Ala1927Thr) c.3043G>A (p.Ala1015Thr) c.1936G>A (p.Ala646Thr) c.5962G>A (p.Ala1988Thr) c.1714G>A (p.Ala572Thr) c.4942G>A (p.Ala1648Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99699560G>C | CA371873933 | VPS13B | c.6157G>C (p.Ala2053Pro) n.6227G>C c.*1839G>C (n.*1839G>C) c.6082G>C (p.Ala2028Pro) c.6154G>C (p.Ala2052Pro) c.6079G>C (p.Ala2027Pro) c.5779G>C (p.Ala1927Pro) c.3043G>C (p.Ala1015Pro) c.1936G>C (p.Ala646Pro) c.5962G>C (p.Ala1988Pro) c.1714G>C (p.Ala572Pro) c.4942G>C (p.Ala1648Pro) | ClinVar dbSNP gnomAD v4 |
8 | g.99699560G= | CA1805814991 | VPS13B | c.6157G= (p.Ala2053=) n.6227G= c.*1839G= (n.*1839G=) c.6082G= (p.Ala2028=) c.6154G= (p.Ala2052=) c.6079G= (p.Ala2027=) c.5779G= (p.Ala1927=) c.3043G= (p.Ala1015=) c.1936G= (p.Ala646=) c.5962G= (p.Ala1988=) c.1714G= (p.Ala572=) c.4942G= (p.Ala1648=) | |
8 | g.99699560G>T | CA371873936 | VPS13B | c.6157G>T (p.Ala2053Ser) n.6227G>T c.*1839G>T (n.*1839G>T) c.6082G>T (p.Ala2028Ser) c.6154G>T (p.Ala2052Ser) c.6079G>T (p.Ala2027Ser) c.5779G>T (p.Ala1927Ser) c.3043G>T (p.Ala1015Ser) c.1936G>T (p.Ala646Ser) c.5962G>T (p.Ala1988Ser) c.1714G>T (p.Ala572Ser) c.4942G>T (p.Ala1648Ser) | |
8 | g.99699561C>A | CA371873939 | VPS13B | c.6158C>A (p.Ala2053Glu) n.6228C>A c.*1840C>A (n.*1840C>A) c.6083C>A (p.Ala2028Glu) c.6155C>A (p.Ala2052Glu) c.6080C>A (p.Ala2027Glu) c.5780C>A (p.Ala1927Glu) c.3044C>A (p.Ala1015Glu) c.1937C>A (p.Ala646Glu) c.5963C>A (p.Ala1988Glu) c.1715C>A (p.Ala572Glu) c.4943C>A (p.Ala1648Glu) | COSMIC COSMIC |
8 | g.99699561C>G | CA371873941 | VPS13B | c.6158C>G (p.Ala2053Gly) n.6228C>G c.*1840C>G (n.*1840C>G) c.6083C>G (p.Ala2028Gly) c.6155C>G (p.Ala2052Gly) c.6080C>G (p.Ala2027Gly) c.5780C>G (p.Ala1927Gly) c.3044C>G (p.Ala1015Gly) c.1937C>G (p.Ala646Gly) c.5963C>G (p.Ala1988Gly) c.1715C>G (p.Ala572Gly) c.4943C>G (p.Ala1648Gly) | |
8 | g.99699561C>T | CA371873943 | VPS13B | c.6158C>T (p.Ala2053Val) n.6228C>T c.*1840C>T (n.*1840C>T) c.6083C>T (p.Ala2028Val) c.6155C>T (p.Ala2052Val) c.6080C>T (p.Ala2027Val) c.5780C>T (p.Ala1927Val) c.3044C>T (p.Ala1015Val) c.1937C>T (p.Ala646Val) c.5963C>T (p.Ala1988Val) c.1715C>T (p.Ala572Val) c.4943C>T (p.Ala1648Val) | |
8 | g.99699562A>C | CA462448619 | VPS13B | c.6159A>C (p.Ala2053=) n.6229A>C c.*1841A>C (n.*1841A>C) c.6084A>C (p.Ala2028=) c.6156A>C (p.Ala2052=) c.6081A>C (p.Ala2027=) c.5781A>C (p.Ala1927=) c.3045A>C (p.Ala1015=) c.1938A>C (p.Ala646=) c.5964A>C (p.Ala1988=) c.1716A>C (p.Ala572=) c.4944A>C (p.Ala1648=) | |
8 | g.99699562A>G | CA462448620 | VPS13B | c.6159A>G (p.Ala2053=) n.6229A>G c.*1841A>G (n.*1841A>G) c.6084A>G (p.Ala2028=) c.6156A>G (p.Ala2052=) c.6081A>G (p.Ala2027=) c.5781A>G (p.Ala1927=) c.3045A>G (p.Ala1015=) c.1938A>G (p.Ala646=) c.5964A>G (p.Ala1988=) c.1716A>G (p.Ala572=) c.4944A>G (p.Ala1648=) | |
8 | g.99699562A>T | CA462448621 | VPS13B | c.6159A>T (p.Ala2053=) n.6229A>T c.*1841A>T (n.*1841A>T) c.6084A>T (p.Ala2028=) c.6156A>T (p.Ala2052=) c.6081A>T (p.Ala2027=) c.5781A>T (p.Ala1927=) c.3045A>T (p.Ala1015=) c.1938A>T (p.Ala646=) c.5964A>T (p.Ala1988=) c.1716A>T (p.Ala572=) c.4944A>T (p.Ala1648=) | |
8 | g.99699563A>C | CA371873944 | VPS13B | c.6160A>C (p.Asn2054His) n.6230A>C c.*1842A>C (n.*1842A>C) c.6085A>C (p.Asn2029His) c.6157A>C (p.Asn2053His) c.6082A>C (p.Asn2028His) c.5782A>C (p.Asn1928His) c.3046A>C (p.Asn1016His) c.1939A>C (p.Asn647His) c.5965A>C (p.Asn1989His) c.1717A>C (p.Asn573His) c.4945A>C (p.Asn1649His) | |
8 | g.99699563A>G | CA371873947 | VPS13B | c.6160A>G (p.Asn2054Asp) n.6230A>G c.*1842A>G (n.*1842A>G) c.6085A>G (p.Asn2029Asp) c.6157A>G (p.Asn2053Asp) c.6082A>G (p.Asn2028Asp) c.5782A>G (p.Asn1928Asp) c.3046A>G (p.Asn1016Asp) c.1939A>G (p.Asn647Asp) c.5965A>G (p.Asn1989Asp) c.1717A>G (p.Asn573Asp) c.4945A>G (p.Asn1649Asp) | |
8 | g.99699563A>T | CA371873950 | VPS13B | c.6160A>T (p.Asn2054Tyr) n.6230A>T c.*1842A>T (n.*1842A>T) c.6085A>T (p.Asn2029Tyr) c.6157A>T (p.Asn2053Tyr) c.6082A>T (p.Asn2028Tyr) c.5782A>T (p.Asn1928Tyr) c.3046A>T (p.Asn1016Tyr) c.1939A>T (p.Asn647Tyr) c.5965A>T (p.Asn1989Tyr) c.1717A>T (p.Asn573Tyr) c.4945A>T (p.Asn1649Tyr) | |
8 | g.99699564A= | CA1805814994 | VPS13B | c.6161A= (p.Asn2054=) n.6231A= c.*1843A= (n.*1843A=) c.6086A= (p.Asn2029=) c.6158A= (p.Asn2053=) c.6083A= (p.Asn2028=) c.5783A= (p.Asn1928=) c.3047A= (p.Asn1016=) c.1940A= (p.Asn647=) c.5966A= (p.Asn1989=) c.1718A= (p.Asn573=) c.4946A= (p.Asn1649=) | |
8 | g.99699564A>C | CA371873954 | VPS13B | c.6161A>C (p.Asn2054Thr) n.6231A>C c.*1843A>C (n.*1843A>C) c.6086A>C (p.Asn2029Thr) c.6158A>C (p.Asn2053Thr) c.6083A>C (p.Asn2028Thr) c.5783A>C (p.Asn1928Thr) c.3047A>C (p.Asn1016Thr) c.1940A>C (p.Asn647Thr) c.5966A>C (p.Asn1989Thr) c.1718A>C (p.Asn573Thr) c.4946A>C (p.Asn1649Thr) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699564A>G | CA371873956 | VPS13B | c.6161A>G (p.Asn2054Ser) n.6231A>G c.*1843A>G (n.*1843A>G) c.6086A>G (p.Asn2029Ser) c.6158A>G (p.Asn2053Ser) c.6083A>G (p.Asn2028Ser) c.5783A>G (p.Asn1928Ser) c.3047A>G (p.Asn1016Ser) c.1940A>G (p.Asn647Ser) c.5966A>G (p.Asn1989Ser) c.1718A>G (p.Asn573Ser) c.4946A>G (p.Asn1649Ser) | |
8 | g.99699564A>T | CA371873952 | VPS13B | c.6161A>T (p.Asn2054Ile) n.6231A>T c.*1843A>T (n.*1843A>T) c.6086A>T (p.Asn2029Ile) c.6158A>T (p.Asn2053Ile) c.6083A>T (p.Asn2028Ile) c.5783A>T (p.Asn1928Ile) c.3047A>T (p.Asn1016Ile) c.1940A>T (p.Asn647Ile) c.5966A>T (p.Asn1989Ile) c.1718A>T (p.Asn573Ile) c.4946A>T (p.Asn1649Ile) | |
8 | g.99699565C>A | CA371873958 | VPS13B | c.6162C>A (p.Asn2054Lys) n.6232C>A c.*1844C>A (n.*1844C>A) c.6087C>A (p.Asn2029Lys) c.6159C>A (p.Asn2053Lys) c.6084C>A (p.Asn2028Lys) c.5784C>A (p.Asn1928Lys) c.3048C>A (p.Asn1016Lys) c.1941C>A (p.Asn647Lys) c.5967C>A (p.Asn1989Lys) c.1719C>A (p.Asn573Lys) c.4947C>A (p.Asn1649Lys) | |
8 | g.99699565C= | CA1805814997 | VPS13B | c.6162C= (p.Asn2054=) n.6232C= c.*1844C= (n.*1844C=) c.6087C= (p.Asn2029=) c.6159C= (p.Asn2053=) c.6084C= (p.Asn2028=) c.5784C= (p.Asn1928=) c.3048C= (p.Asn1016=) c.1941C= (p.Asn647=) c.5967C= (p.Asn1989=) c.1719C= (p.Asn573=) c.4947C= (p.Asn1649=) | |
8 | g.99699565C>G | CA371873959 | VPS13B | c.6162C>G (p.Asn2054Lys) n.6232C>G c.*1844C>G (n.*1844C>G) c.6087C>G (p.Asn2029Lys) c.6159C>G (p.Asn2053Lys) c.6084C>G (p.Asn2028Lys) c.5784C>G (p.Asn1928Lys) c.3048C>G (p.Asn1016Lys) c.1941C>G (p.Asn647Lys) c.5967C>G (p.Asn1989Lys) c.1719C>G (p.Asn573Lys) c.4947C>G (p.Asn1649Lys) | |
8 | g.99699565C>T | CA4823941 | VPS13B | c.6162C>T (p.Asn2054=) n.6232C>T c.*1844C>T (n.*1844C>T) c.6087C>T (p.Asn2029=) c.6159C>T (p.Asn2053=) c.6084C>T (p.Asn2028=) c.5784C>T (p.Asn1928=) c.3048C>T (p.Asn1016=) c.1941C>T (p.Asn647=) c.5967C>T (p.Asn1989=) c.1719C>T (p.Asn573=) c.4947C>T (p.Asn1649=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99699566C>A | CA371873962 | VPS13B | c.6163C>A (p.Leu2055Met) n.6233C>A c.*1845C>A (n.*1845C>A) c.6088C>A (p.Leu2030Met) c.6160C>A (p.Leu2054Met) c.6085C>A (p.Leu2029Met) c.5785C>A (p.Leu1929Met) c.3049C>A (p.Leu1017Met) c.1942C>A (p.Leu648Met) c.5968C>A (p.Leu1990Met) c.1720C>A (p.Leu574Met) c.4948C>A (p.Leu1650Met) | |
8 | g.99699566C>G | CA371873965 | VPS13B | c.6163C>G (p.Leu2055Val) n.6233C>G c.*1845C>G (n.*1845C>G) c.6088C>G (p.Leu2030Val) c.6160C>G (p.Leu2054Val) c.6085C>G (p.Leu2029Val) c.5785C>G (p.Leu1929Val) c.3049C>G (p.Leu1017Val) c.1942C>G (p.Leu648Val) c.5968C>G (p.Leu1990Val) c.1720C>G (p.Leu574Val) c.4948C>G (p.Leu1650Val) | |
8 | g.99699566C>T | CA462448623 | VPS13B | c.6163C>T (p.Leu2055=) n.6233C>T c.*1845C>T (n.*1845C>T) c.6088C>T (p.Leu2030=) c.6160C>T (p.Leu2054=) c.6085C>T (p.Leu2029=) c.5785C>T (p.Leu1929=) c.3049C>T (p.Leu1017=) c.1942C>T (p.Leu648=) c.5968C>T (p.Leu1990=) c.1720C>T (p.Leu574=) c.4948C>T (p.Leu1650=) | |
8 | g.99699567T>A | CA371873969 | VPS13B | c.6164T>A (p.Leu2055Gln) n.6234T>A c.*1846T>A (n.*1846T>A) c.6089T>A (p.Leu2030Gln) c.6161T>A (p.Leu2054Gln) c.6086T>A (p.Leu2029Gln) c.5786T>A (p.Leu1929Gln) c.3050T>A (p.Leu1017Gln) c.1943T>A (p.Leu648Gln) c.5969T>A (p.Leu1990Gln) c.1721T>A (p.Leu574Gln) c.4949T>A (p.Leu1650Gln) | |
8 | g.99699567T>C | CA371873971 | VPS13B | c.6164T>C (p.Leu2055Pro) n.6234T>C c.*1846T>C (n.*1846T>C) c.6089T>C (p.Leu2030Pro) c.6161T>C (p.Leu2054Pro) c.6086T>C (p.Leu2029Pro) c.5786T>C (p.Leu1929Pro) c.3050T>C (p.Leu1017Pro) c.1943T>C (p.Leu648Pro) c.5969T>C (p.Leu1990Pro) c.1721T>C (p.Leu574Pro) c.4949T>C (p.Leu1650Pro) | dbSNP gnomAD v4 |
8 | g.99699567T>G | CA371873974 | VPS13B | c.6164T>G (p.Leu2055Arg) n.6234T>G c.*1846T>G (n.*1846T>G) c.6089T>G (p.Leu2030Arg) c.6161T>G (p.Leu2054Arg) c.6086T>G (p.Leu2029Arg) c.5786T>G (p.Leu1929Arg) c.3050T>G (p.Leu1017Arg) c.1943T>G (p.Leu648Arg) c.5969T>G (p.Leu1990Arg) c.1721T>G (p.Leu574Arg) c.4949T>G (p.Leu1650Arg) | |
8 | g.99699567T= | CA1805815002 | VPS13B | c.6164T= (p.Leu2055=) n.6234T= c.*1846T= (n.*1846T=) c.6089T= (p.Leu2030=) c.6161T= (p.Leu2054=) c.6086T= (p.Leu2029=) c.5786T= (p.Leu1929=) c.3050T= (p.Leu1017=) c.1943T= (p.Leu648=) c.5969T= (p.Leu1990=) c.1721T= (p.Leu574=) c.4949T= (p.Leu1650=) | |
8 | g.99699568G>A | CA462448626 | VPS13B | c.6165G>A (p.Leu2055=) n.6235G>A c.*1847G>A (n.*1847G>A) c.6090G>A (p.Leu2030=) c.6162G>A (p.Leu2054=) c.6087G>A (p.Leu2029=) c.5787G>A (p.Leu1929=) c.3051G>A (p.Leu1017=) c.1944G>A (p.Leu648=) c.5970G>A (p.Leu1990=) c.1722G>A (p.Leu574=) c.4950G>A (p.Leu1650=) | gnomAD v4 |
8 | g.99699568G>C | CA462448625 | VPS13B | c.6165G>C (p.Leu2055=) n.6235G>C c.*1847G>C (n.*1847G>C) c.6090G>C (p.Leu2030=) c.6162G>C (p.Leu2054=) c.6087G>C (p.Leu2029=) c.5787G>C (p.Leu1929=) c.3051G>C (p.Leu1017=) c.1944G>C (p.Leu648=) c.5970G>C (p.Leu1990=) c.1722G>C (p.Leu574=) c.4950G>C (p.Leu1650=) | dbSNP |
8 | g.99699568G= | CA1805815011 | VPS13B | c.6165G= (p.Leu2055=) n.6235G= c.*1847G= (n.*1847G=) c.6090G= (p.Leu2030=) c.6162G= (p.Leu2054=) c.6087G= (p.Leu2029=) c.5787G= (p.Leu1929=) c.3051G= (p.Leu1017=) c.1944G= (p.Leu648=) c.5970G= (p.Leu1990=) c.1722G= (p.Leu574=) c.4950G= (p.Leu1650=) | |
8 | g.99699568G>T | CA462448624 | VPS13B | c.6165G>T (p.Leu2055=) n.6235G>T c.*1847G>T (n.*1847G>T) c.6090G>T (p.Leu2030=) c.6162G>T (p.Leu2054=) c.6087G>T (p.Leu2029=) c.5787G>T (p.Leu1929=) c.3051G>T (p.Leu1017=) c.1944G>T (p.Leu648=) c.5970G>T (p.Leu1990=) c.1722G>T (p.Leu574=) c.4950G>T (p.Leu1650=) | COSMIC COSMIC |
8 | g.99699569A>C | CA371873978 | VPS13B | c.6166A>C (p.Ser2056Arg) n.6236A>C c.*1848A>C (n.*1848A>C) c.6091A>C (p.Ser2031Arg) c.6163A>C (p.Ser2055Arg) c.6088A>C (p.Ser2030Arg) c.5788A>C (p.Ser1930Arg) c.3052A>C (p.Ser1018Arg) c.1945A>C (p.Ser649Arg) c.5971A>C (p.Ser1991Arg) c.1723A>C (p.Ser575Arg) c.4951A>C (p.Ser1651Arg) | |
8 | g.99699569A>G | CA371873981 | VPS13B | c.6166A>G (p.Ser2056Gly) n.6236A>G c.*1848A>G (n.*1848A>G) c.6091A>G (p.Ser2031Gly) c.6163A>G (p.Ser2055Gly) c.6088A>G (p.Ser2030Gly) c.5788A>G (p.Ser1930Gly) c.3052A>G (p.Ser1018Gly) c.1945A>G (p.Ser649Gly) c.5971A>G (p.Ser1991Gly) c.1723A>G (p.Ser575Gly) c.4951A>G (p.Ser1651Gly) | ClinVar gnomAD v4 |
8 | g.99699569A>T | CA371873983 | VPS13B | c.6166A>T (p.Ser2056Cys) n.6236A>T c.*1848A>T (n.*1848A>T) c.6091A>T (p.Ser2031Cys) c.6163A>T (p.Ser2055Cys) c.6088A>T (p.Ser2030Cys) c.5788A>T (p.Ser1930Cys) c.3052A>T (p.Ser1018Cys) c.1945A>T (p.Ser649Cys) c.5971A>T (p.Ser1991Cys) c.1723A>T (p.Ser575Cys) c.4951A>T (p.Ser1651Cys) | |
8 | g.99699570G>A | CA371873989 | VPS13B | c.6167G>A (p.Ser2056Asn) n.6237G>A c.*1849G>A (n.*1849G>A) c.6092G>A (p.Ser2031Asn) c.6164G>A (p.Ser2055Asn) c.6089G>A (p.Ser2030Asn) c.5789G>A (p.Ser1930Asn) c.3053G>A (p.Ser1018Asn) c.1946G>A (p.Ser649Asn) c.5972G>A (p.Ser1991Asn) c.1724G>A (p.Ser575Asn) c.4952G>A (p.Ser1651Asn) | gnomAD v4 |
8 | g.99699570G>C | CA371873993 | VPS13B | c.6167G>C (p.Ser2056Thr) n.6237G>C c.*1849G>C (n.*1849G>C) c.6092G>C (p.Ser2031Thr) c.6164G>C (p.Ser2055Thr) c.6089G>C (p.Ser2030Thr) c.5789G>C (p.Ser1930Thr) c.3053G>C (p.Ser1018Thr) c.1946G>C (p.Ser649Thr) c.5972G>C (p.Ser1991Thr) c.1724G>C (p.Ser575Thr) c.4952G>C (p.Ser1651Thr) | |
8 | g.99699570G>T | CA371873986 | VPS13B | c.6167G>T (p.Ser2056Ile) n.6237G>T c.*1849G>T (n.*1849G>T) c.6092G>T (p.Ser2031Ile) c.6164G>T (p.Ser2055Ile) c.6089G>T (p.Ser2030Ile) c.5789G>T (p.Ser1930Ile) c.3053G>T (p.Ser1018Ile) c.1946G>T (p.Ser649Ile) c.5972G>T (p.Ser1991Ile) c.1724G>T (p.Ser575Ile) c.4952G>T (p.Ser1651Ile) | |
8 | g.99699571T>A | CA371873996 | VPS13B | c.6168T>A (p.Ser2056Arg) n.6238T>A c.*1850T>A (n.*1850T>A) c.6093T>A (p.Ser2031Arg) c.6165T>A (p.Ser2055Arg) c.6090T>A (p.Ser2030Arg) c.5790T>A (p.Ser1930Arg) c.3054T>A (p.Ser1018Arg) c.1947T>A (p.Ser649Arg) c.5973T>A (p.Ser1991Arg) c.1725T>A (p.Ser575Arg) c.4953T>A (p.Ser1651Arg) | |
8 | g.99699571T>C | CA462448629 | VPS13B | c.6168T>C (p.Ser2056=) n.6238T>C c.*1850T>C (n.*1850T>C) c.6093T>C (p.Ser2031=) c.6165T>C (p.Ser2055=) c.6090T>C (p.Ser2030=) c.5790T>C (p.Ser1930=) c.3054T>C (p.Ser1018=) c.1947T>C (p.Ser649=) c.5973T>C (p.Ser1991=) c.1725T>C (p.Ser575=) c.4953T>C (p.Ser1651=) | |
8 | g.99699571T>G | CA371873999 | VPS13B | c.6168T>G (p.Ser2056Arg) n.6238T>G c.*1850T>G (n.*1850T>G) c.6093T>G (p.Ser2031Arg) c.6165T>G (p.Ser2055Arg) c.6090T>G (p.Ser2030Arg) c.5790T>G (p.Ser1930Arg) c.3054T>G (p.Ser1018Arg) c.1947T>G (p.Ser649Arg) c.5973T>G (p.Ser1991Arg) c.1725T>G (p.Ser575Arg) c.4953T>G (p.Ser1651Arg) | |
8 | g.99699572T>A | CA371874001 | VPS13B | c.6169T>A (p.Phe2057Ile) n.6239T>A c.*1851T>A (n.*1851T>A) c.6094T>A (p.Phe2032Ile) c.6166T>A (p.Phe2056Ile) c.6091T>A (p.Phe2031Ile) c.5791T>A (p.Phe1931Ile) c.3055T>A (p.Phe1019Ile) c.1948T>A (p.Phe650Ile) c.5974T>A (p.Phe1992Ile) c.1726T>A (p.Phe576Ile) c.4954T>A (p.Phe1652Ile) | |
8 | g.99699572T>C | CA371874002 | VPS13B | c.6169T>C (p.Phe2057Leu) n.6239T>C c.*1851T>C (n.*1851T>C) c.6094T>C (p.Phe2032Leu) c.6166T>C (p.Phe2056Leu) c.6091T>C (p.Phe2031Leu) c.5791T>C (p.Phe1931Leu) c.3055T>C (p.Phe1019Leu) c.1948T>C (p.Phe650Leu) c.5974T>C (p.Phe1992Leu) c.1726T>C (p.Phe576Leu) c.4954T>C (p.Phe1652Leu) | |
8 | g.99699572T>G | CA371874006 | VPS13B | c.6169T>G (p.Phe2057Val) n.6239T>G c.*1851T>G (n.*1851T>G) c.6094T>G (p.Phe2032Val) c.6166T>G (p.Phe2056Val) c.6091T>G (p.Phe2031Val) c.5791T>G (p.Phe1931Val) c.3055T>G (p.Phe1019Val) c.1948T>G (p.Phe650Val) c.5974T>G (p.Phe1992Val) c.1726T>G (p.Phe576Val) c.4954T>G (p.Phe1652Val) | |
8 | g.99699573T>A | CA371874014 | VPS13B | c.6170T>A (p.Phe2057Tyr) n.6240T>A c.*1852T>A (n.*1852T>A) c.6095T>A (p.Phe2032Tyr) c.6167T>A (p.Phe2056Tyr) c.6092T>A (p.Phe2031Tyr) c.5792T>A (p.Phe1931Tyr) c.3056T>A (p.Phe1019Tyr) c.1949T>A (p.Phe650Tyr) c.5975T>A (p.Phe1992Tyr) c.1727T>A (p.Phe576Tyr) c.4955T>A (p.Phe1652Tyr) | |
8 | g.99699573T>C | CA371874010 | VPS13B | c.6170T>C (p.Phe2057Ser) n.6240T>C c.*1852T>C (n.*1852T>C) c.6095T>C (p.Phe2032Ser) c.6167T>C (p.Phe2056Ser) c.6092T>C (p.Phe2031Ser) c.5792T>C (p.Phe1931Ser) c.3056T>C (p.Phe1019Ser) c.1949T>C (p.Phe650Ser) c.5975T>C (p.Phe1992Ser) c.1727T>C (p.Phe576Ser) c.4955T>C (p.Phe1652Ser) | |
8 | g.99699573T>G | CA371874013 | VPS13B | c.6170T>G (p.Phe2057Cys) n.6240T>G c.*1852T>G (n.*1852T>G) c.6095T>G (p.Phe2032Cys) c.6167T>G (p.Phe2056Cys) c.6092T>G (p.Phe2031Cys) c.5792T>G (p.Phe1931Cys) c.3056T>G (p.Phe1019Cys) c.1949T>G (p.Phe650Cys) c.5975T>G (p.Phe1992Cys) c.1727T>G (p.Phe576Cys) c.4955T>G (p.Phe1652Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.99699573T= | CA1805815016 | VPS13B | c.6170T= (p.Phe2057=) n.6240T= c.*1852T= (n.*1852T=) c.6095T= (p.Phe2032=) c.6167T= (p.Phe2056=) c.6092T= (p.Phe2031=) c.5792T= (p.Phe1931=) c.3056T= (p.Phe1019=) c.1949T= (p.Phe650=) c.5975T= (p.Phe1992=) c.1727T= (p.Phe576=) c.4955T= (p.Phe1652=) | |
8 | g.99699574C>A | CA371874017 | VPS13B | c.6171C>A (p.Phe2057Leu) n.6241C>A c.*1853C>A (n.*1853C>A) c.6096C>A (p.Phe2032Leu) c.6168C>A (p.Phe2056Leu) c.6093C>A (p.Phe2031Leu) c.5793C>A (p.Phe1931Leu) c.3057C>A (p.Phe1019Leu) c.1950C>A (p.Phe650Leu) c.5976C>A (p.Phe1992Leu) c.1728C>A (p.Phe576Leu) c.4956C>A (p.Phe1652Leu) | |
8 | g.99699574C>G | CA371874019 | VPS13B | c.6171C>G (p.Phe2057Leu) n.6241C>G c.*1853C>G (n.*1853C>G) c.6096C>G (p.Phe2032Leu) c.6168C>G (p.Phe2056Leu) c.6093C>G (p.Phe2031Leu) c.5793C>G (p.Phe1931Leu) c.3057C>G (p.Phe1019Leu) c.1950C>G (p.Phe650Leu) c.5976C>G (p.Phe1992Leu) c.1728C>G (p.Phe576Leu) c.4956C>G (p.Phe1652Leu) | |
8 | g.99699574C>T | CA462448632 | VPS13B | c.6171C>T (p.Phe2057=) n.6241C>T c.*1853C>T (n.*1853C>T) c.6096C>T (p.Phe2032=) c.6168C>T (p.Phe2056=) c.6093C>T (p.Phe2031=) c.5793C>T (p.Phe1931=) c.3057C>T (p.Phe1019=) c.1950C>T (p.Phe650=) c.5976C>T (p.Phe1992=) c.1728C>T (p.Phe576=) c.4956C>T (p.Phe1652=) | |
8 | g.99699575A>C | CA371874025 | VPS13B | c.6172A>C (p.Thr2058Pro) n.6242A>C c.*1854A>C (n.*1854A>C) c.6097A>C (p.Thr2033Pro) c.6169A>C (p.Thr2057Pro) c.6094A>C (p.Thr2032Pro) c.5794A>C (p.Thr1932Pro) c.3058A>C (p.Thr1020Pro) c.1951A>C (p.Thr651Pro) c.5977A>C (p.Thr1993Pro) c.1729A>C (p.Thr577Pro) c.4957A>C (p.Thr1653Pro) | |
8 | g.99699575A>G | CA371874026 | VPS13B | c.6172A>G (p.Thr2058Ala) n.6242A>G c.*1854A>G (n.*1854A>G) c.6097A>G (p.Thr2033Ala) c.6169A>G (p.Thr2057Ala) c.6094A>G (p.Thr2032Ala) c.5794A>G (p.Thr1932Ala) c.3058A>G (p.Thr1020Ala) c.1951A>G (p.Thr651Ala) c.5977A>G (p.Thr1993Ala) c.1729A>G (p.Thr577Ala) c.4957A>G (p.Thr1653Ala) | |
8 | g.99699575A>T | CA371874028 | VPS13B | c.6172A>T (p.Thr2058Ser) n.6242A>T c.*1854A>T (n.*1854A>T) c.6097A>T (p.Thr2033Ser) c.6169A>T (p.Thr2057Ser) c.6094A>T (p.Thr2032Ser) c.5794A>T (p.Thr1932Ser) c.3058A>T (p.Thr1020Ser) c.1951A>T (p.Thr651Ser) c.5977A>T (p.Thr1993Ser) c.1729A>T (p.Thr577Ser) c.4957A>T (p.Thr1653Ser) | |
8 | g.99699576C>A | CA4823942 | VPS13B | c.6173C>A (p.Thr2058Asn) n.6243C>A c.*1855C>A (n.*1855C>A) c.6098C>A (p.Thr2033Asn) c.6170C>A (p.Thr2057Asn) c.6095C>A (p.Thr2032Asn) c.5795C>A (p.Thr1932Asn) c.3059C>A (p.Thr1020Asn) c.1952C>A (p.Thr651Asn) c.5978C>A (p.Thr1993Asn) c.1730C>A (p.Thr577Asn) c.4958C>A (p.Thr1653Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99699576C= | CA1805815024 | VPS13B | c.6173C= (p.Thr2058=) n.6243C= c.*1855C= (n.*1855C=) c.6098C= (p.Thr2033=) c.6170C= (p.Thr2057=) c.6095C= (p.Thr2032=) c.5795C= (p.Thr1932=) c.3059C= (p.Thr1020=) c.1952C= (p.Thr651=) c.5978C= (p.Thr1993=) c.1730C= (p.Thr577=) c.4958C= (p.Thr1653=) | |
8 | g.99699576C>G | CA371874034 | VPS13B | c.6173C>G (p.Thr2058Ser) n.6243C>G c.*1855C>G (n.*1855C>G) c.6098C>G (p.Thr2033Ser) c.6170C>G (p.Thr2057Ser) c.6095C>G (p.Thr2032Ser) c.5795C>G (p.Thr1932Ser) c.3059C>G (p.Thr1020Ser) c.1952C>G (p.Thr651Ser) c.5978C>G (p.Thr1993Ser) c.1730C>G (p.Thr577Ser) c.4958C>G (p.Thr1653Ser) | |
8 | g.99699576C>T | CA371874032 | VPS13B | c.6173C>T (p.Thr2058Ile) n.6243C>T c.*1855C>T (n.*1855C>T) c.6098C>T (p.Thr2033Ile) c.6170C>T (p.Thr2057Ile) c.6095C>T (p.Thr2032Ile) c.5795C>T (p.Thr1932Ile) c.3059C>T (p.Thr1020Ile) c.1952C>T (p.Thr651Ile) c.5978C>T (p.Thr1993Ile) c.1730C>T (p.Thr577Ile) c.4958C>T (p.Thr1653Ile) | |
8 | g.99699577C>A | CA462448634 | VPS13B | c.6174C>A (p.Thr2058=) n.6244C>A c.*1856C>A (n.*1856C>A) c.6099C>A (p.Thr2033=) c.6171C>A (p.Thr2057=) c.6096C>A (p.Thr2032=) c.5796C>A (p.Thr1932=) c.3060C>A (p.Thr1020=) c.1953C>A (p.Thr651=) c.5979C>A (p.Thr1993=) c.1731C>A (p.Thr577=) c.4959C>A (p.Thr1653=) | |
8 | g.99699577C= | CA1805815029 | VPS13B | c.6174C= (p.Thr2058=) n.6244C= c.*1856C= (n.*1856C=) c.6099C= (p.Thr2033=) c.6171C= (p.Thr2057=) c.6096C= (p.Thr2032=) c.5796C= (p.Thr1932=) c.3060C= (p.Thr1020=) c.1953C= (p.Thr651=) c.5979C= (p.Thr1993=) c.1731C= (p.Thr577=) c.4959C= (p.Thr1653=) | |
8 | g.99699577C>G | CA462448635 | VPS13B | c.6174C>G (p.Thr2058=) n.6244C>G c.*1856C>G (n.*1856C>G) c.6099C>G (p.Thr2033=) c.6171C>G (p.Thr2057=) c.6096C>G (p.Thr2032=) c.5796C>G (p.Thr1932=) c.3060C>G (p.Thr1020=) c.1953C>G (p.Thr651=) c.5979C>G (p.Thr1993=) c.1731C>G (p.Thr577=) c.4959C>G (p.Thr1653=) | |
8 | g.99699577C>T | CA462448636 | VPS13B | c.6174C>T (p.Thr2058=) n.6244C>T c.*1856C>T (n.*1856C>T) c.6099C>T (p.Thr2033=) c.6171C>T (p.Thr2057=) c.6096C>T (p.Thr2032=) c.5796C>T (p.Thr1932=) c.3060C>T (p.Thr1020=) c.1953C>T (p.Thr651=) c.5979C>T (p.Thr1993=) c.1731C>T (p.Thr577=) c.4959C>T (p.Thr1653=) | dbSNP |
8 | g.99699578A>C | CA371874038 | VPS13B | c.6175A>C (p.Lys2059Gln) n.6245A>C c.*1857A>C (n.*1857A>C) c.6100A>C (p.Lys2034Gln) c.6172A>C (p.Lys2058Gln) c.6097A>C (p.Lys2033Gln) c.5797A>C (p.Lys1933Gln) c.3061A>C (p.Lys1021Gln) c.1954A>C (p.Lys652Gln) c.5980A>C (p.Lys1994Gln) c.1732A>C (p.Lys578Gln) c.4960A>C (p.Lys1654Gln) | |
8 | g.99699578A>G | CA371874045 | VPS13B | c.6175A>G (p.Lys2059Glu) n.6245A>G c.*1857A>G (n.*1857A>G) c.6100A>G (p.Lys2034Glu) c.6172A>G (p.Lys2058Glu) c.6097A>G (p.Lys2033Glu) c.5797A>G (p.Lys1933Glu) c.3061A>G (p.Lys1021Glu) c.1954A>G (p.Lys652Glu) c.5980A>G (p.Lys1994Glu) c.1732A>G (p.Lys578Glu) c.4960A>G (p.Lys1654Glu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699578A>T | CA371874042 | VPS13B | c.6175A>T (p.Lys2059Ter) n.6245A>T c.*1857A>T (n.*1857A>T) c.6100A>T (p.Lys2034Ter) c.6172A>T (p.Lys2058Ter) c.6097A>T (p.Lys2033Ter) c.5797A>T (p.Lys1933Ter) c.3061A>T (p.Lys1021Ter) c.1954A>T (p.Lys652Ter) c.5980A>T (p.Lys1994Ter) c.1732A>T (p.Lys578Ter) c.4960A>T (p.Lys1654Ter) | |
8 | g.99699579A= | CA1805815041 | VPS13B | c.6176A= (p.Lys2059=) n.6246A= c.*1858A= (n.*1858A=) c.6101A= (p.Lys2034=) c.6173A= (p.Lys2058=) c.6098A= (p.Lys2033=) c.5798A= (p.Lys1933=) c.3062A= (p.Lys1021=) c.1955A= (p.Lys652=) c.5981A= (p.Lys1994=) c.1733A= (p.Lys578=) c.4961A= (p.Lys1654=) | |
8 | g.99699579A>C | CA183025288 | VPS13B | c.6176A>C (p.Lys2059Thr) n.6246A>C c.*1858A>C (n.*1858A>C) c.6101A>C (p.Lys2034Thr) c.6173A>C (p.Lys2058Thr) c.6098A>C (p.Lys2033Thr) c.5798A>C (p.Lys1933Thr) c.3062A>C (p.Lys1021Thr) c.1955A>C (p.Lys652Thr) c.5981A>C (p.Lys1994Thr) c.1733A>C (p.Lys578Thr) c.4961A>C (p.Lys1654Thr) | dbSNP gnomAD v4 |
8 | g.99699579A>G | CA371874050 | VPS13B | c.6176A>G (p.Lys2059Arg) n.6246A>G c.*1858A>G (n.*1858A>G) c.6101A>G (p.Lys2034Arg) c.6173A>G (p.Lys2058Arg) c.6098A>G (p.Lys2033Arg) c.5798A>G (p.Lys1933Arg) c.3062A>G (p.Lys1021Arg) c.1955A>G (p.Lys652Arg) c.5981A>G (p.Lys1994Arg) c.1733A>G (p.Lys578Arg) c.4961A>G (p.Lys1654Arg) | gnomAD v4 |
8 | g.99699579A>T | CA371874054 | VPS13B | c.6176A>T (p.Lys2059Ile) n.6246A>T c.*1858A>T (n.*1858A>T) c.6101A>T (p.Lys2034Ile) c.6173A>T (p.Lys2058Ile) c.6098A>T (p.Lys2033Ile) c.5798A>T (p.Lys1933Ile) c.3062A>T (p.Lys1021Ile) c.1955A>T (p.Lys652Ile) c.5981A>T (p.Lys1994Ile) c.1733A>T (p.Lys578Ile) c.4961A>T (p.Lys1654Ile) | |
8 | g.99699580A>C | CA371874056 | VPS13B | c.6177A>C (p.Lys2059Asn) n.6247A>C c.*1859A>C (n.*1859A>C) c.6102A>C (p.Lys2034Asn) c.6174A>C (p.Lys2058Asn) c.6099A>C (p.Lys2033Asn) c.5799A>C (p.Lys1933Asn) c.3063A>C (p.Lys1021Asn) c.1956A>C (p.Lys652Asn) c.5982A>C (p.Lys1994Asn) c.1734A>C (p.Lys578Asn) c.4962A>C (p.Lys1654Asn) | |
8 | g.99699580A>G | CA462448637 | VPS13B | c.6177A>G (p.Lys2059=) n.6247A>G c.*1859A>G (n.*1859A>G) c.6102A>G (p.Lys2034=) c.6174A>G (p.Lys2058=) c.6099A>G (p.Lys2033=) c.5799A>G (p.Lys1933=) c.3063A>G (p.Lys1021=) c.1956A>G (p.Lys652=) c.5982A>G (p.Lys1994=) c.1734A>G (p.Lys578=) c.4962A>G (p.Lys1654=) | |
8 | g.99699580A>T | CA371874059 | VPS13B | c.6177A>T (p.Lys2059Asn) n.6247A>T c.*1859A>T (n.*1859A>T) c.6102A>T (p.Lys2034Asn) c.6174A>T (p.Lys2058Asn) c.6099A>T (p.Lys2033Asn) c.5799A>T (p.Lys1933Asn) c.3063A>T (p.Lys1021Asn) c.1956A>T (p.Lys652Asn) c.5982A>T (p.Lys1994Asn) c.1734A>T (p.Lys578Asn) c.4962A>T (p.Lys1654Asn) | |
8 | g.99699581C>A | CA183025290 | VPS13B | c.6178C>A (p.Leu2060Met) n.6248C>A c.*1860C>A (n.*1860C>A) c.6103C>A (p.Leu2035Met) c.6175C>A (p.Leu2059Met) c.6100C>A (p.Leu2034Met) c.5800C>A (p.Leu1934Met) c.3064C>A (p.Leu1022Met) c.1957C>A (p.Leu653Met) c.5983C>A (p.Leu1995Met) c.1735C>A (p.Leu579Met) c.4963C>A (p.Leu1655Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99699581C= | CA1805815088 | VPS13B | c.6178C= (p.Leu2060=) n.6248C= c.*1860C= (n.*1860C=) c.6103C= (p.Leu2035=) c.6175C= (p.Leu2059=) c.6100C= (p.Leu2034=) c.5800C= (p.Leu1934=) c.3064C= (p.Leu1022=) c.1957C= (p.Leu653=) c.5983C= (p.Leu1995=) c.1735C= (p.Leu579=) c.4963C= (p.Leu1655=) | |
8 | g.99699581C>G | CA371874064 | VPS13B | c.6178C>G (p.Leu2060Val) n.6248C>G c.*1860C>G (n.*1860C>G) c.6103C>G (p.Leu2035Val) c.6175C>G (p.Leu2059Val) c.6100C>G (p.Leu2034Val) c.5800C>G (p.Leu1934Val) c.3064C>G (p.Leu1022Val) c.1957C>G (p.Leu653Val) c.5983C>G (p.Leu1995Val) c.1735C>G (p.Leu579Val) c.4963C>G (p.Leu1655Val) | |
8 | g.99699581C>T | CA462448638 | VPS13B | c.6178C>T (p.Leu2060=) n.6248C>T c.*1860C>T (n.*1860C>T) c.6103C>T (p.Leu2035=) c.6175C>T (p.Leu2059=) c.6100C>T (p.Leu2034=) c.5800C>T (p.Leu1934=) c.3064C>T (p.Leu1022=) c.1957C>T (p.Leu653=) c.5983C>T (p.Leu1995=) c.1735C>T (p.Leu579=) c.4963C>T (p.Leu1655=) | ClinVar dbSNP gnomAD v4 |
8 | g.99699582T>A | CA371874068 | VPS13B | c.6179T>A (p.Leu2060Gln) n.6249T>A c.*1861T>A (n.*1861T>A) c.6104T>A (p.Leu2035Gln) c.6176T>A (p.Leu2059Gln) c.6101T>A (p.Leu2034Gln) c.5801T>A (p.Leu1934Gln) c.3065T>A (p.Leu1022Gln) c.1958T>A (p.Leu653Gln) c.5984T>A (p.Leu1995Gln) c.1736T>A (p.Leu579Gln) c.4964T>A (p.Leu1655Gln) | |
8 | g.99699582T>C | CA371874071 | VPS13B | c.6179T>C (p.Leu2060Pro) n.6249T>C c.*1861T>C (n.*1861T>C) c.6104T>C (p.Leu2035Pro) c.6176T>C (p.Leu2059Pro) c.6101T>C (p.Leu2034Pro) c.5801T>C (p.Leu1934Pro) c.3065T>C (p.Leu1022Pro) c.1958T>C (p.Leu653Pro) c.5984T>C (p.Leu1995Pro) c.1736T>C (p.Leu579Pro) c.4964T>C (p.Leu1655Pro) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699582T>G | CA371874073 | VPS13B | c.6179T>G (p.Leu2060Arg) n.6249T>G c.*1861T>G (n.*1861T>G) c.6104T>G (p.Leu2035Arg) c.6176T>G (p.Leu2059Arg) c.6101T>G (p.Leu2034Arg) c.5801T>G (p.Leu1934Arg) c.3065T>G (p.Leu1022Arg) c.1958T>G (p.Leu653Arg) c.5984T>G (p.Leu1995Arg) c.1736T>G (p.Leu579Arg) c.4964T>G (p.Leu1655Arg) | |
8 | g.99699582T= | CA1805815093 | VPS13B | c.6179T= (p.Leu2060=) n.6249T= c.*1861T= (n.*1861T=) c.6104T= (p.Leu2035=) c.6176T= (p.Leu2059=) c.6101T= (p.Leu2034=) c.5801T= (p.Leu1934=) c.3065T= (p.Leu1022=) c.1958T= (p.Leu653=) c.5984T= (p.Leu1995=) c.1736T= (p.Leu579=) c.4964T= (p.Leu1655=) | |
8 | g.99699583G>A | CA462448641 | VPS13B | c.6180G>A (p.Leu2060=) n.6250G>A c.*1862G>A (n.*1862G>A) c.6105G>A (p.Leu2035=) c.6177G>A (p.Leu2059=) c.6102G>A (p.Leu2034=) c.5802G>A (p.Leu1934=) c.3066G>A (p.Leu1022=) c.1959G>A (p.Leu653=) c.5985G>A (p.Leu1995=) c.1737G>A (p.Leu579=) c.4965G>A (p.Leu1655=) | |
8 | g.99699583G>C | CA462448642 | VPS13B | c.6180G>C (p.Leu2060=) n.6250G>C c.*1862G>C (n.*1862G>C) c.6105G>C (p.Leu2035=) c.6177G>C (p.Leu2059=) c.6102G>C (p.Leu2034=) c.5802G>C (p.Leu1934=) c.3066G>C (p.Leu1022=) c.1959G>C (p.Leu653=) c.5985G>C (p.Leu1995=) c.1737G>C (p.Leu579=) c.4965G>C (p.Leu1655=) | |
8 | g.99699583G>T | CA462448640 | VPS13B | c.6180G>T (p.Leu2060=) n.6250G>T c.*1862G>T (n.*1862G>T) c.6105G>T (p.Leu2035=) c.6177G>T (p.Leu2059=) c.6102G>T (p.Leu2034=) c.5802G>T (p.Leu1934=) c.3066G>T (p.Leu1022=) c.1959G>T (p.Leu653=) c.5985G>T (p.Leu1995=) c.1737G>T (p.Leu579=) c.4965G>T (p.Leu1655=) | |
8 | g.99699584G>A | CA371874076 | VPS13B | c.6181G>A (p.Asp2061Asn) n.6251G>A c.*1863G>A (n.*1863G>A) c.6106G>A (p.Asp2036Asn) c.6178G>A (p.Asp2060Asn) c.6103G>A (p.Asp2035Asn) c.5803G>A (p.Asp1935Asn) c.3067G>A (p.Asp1023Asn) c.1960G>A (p.Asp654Asn) c.5986G>A (p.Asp1996Asn) c.1738G>A (p.Asp580Asn) c.4966G>A (p.Asp1656Asn) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699584G>C | CA371874083 | VPS13B | c.6181G>C (p.Asp2061His) n.6251G>C c.*1863G>C (n.*1863G>C) c.6106G>C (p.Asp2036His) c.6178G>C (p.Asp2060His) c.6103G>C (p.Asp2035His) c.5803G>C (p.Asp1935His) c.3067G>C (p.Asp1023His) c.1960G>C (p.Asp654His) c.5986G>C (p.Asp1996His) c.1738G>C (p.Asp580His) c.4966G>C (p.Asp1656His) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99699584G= | CA1805815096 | VPS13B | c.6181G= (p.Asp2061=) n.6251G= c.*1863G= (n.*1863G=) c.6106G= (p.Asp2036=) c.6178G= (p.Asp2060=) c.6103G= (p.Asp2035=) c.5803G= (p.Asp1935=) c.3067G= (p.Asp1023=) c.1960G= (p.Asp654=) c.5986G= (p.Asp1996=) c.1738G= (p.Asp580=) c.4966G= (p.Asp1656=) | |
8 | g.99699584G>T | CA4823943 | VPS13B | c.6181G>T (p.Asp2061Tyr) n.6251G>T c.*1863G>T (n.*1863G>T) c.6106G>T (p.Asp2036Tyr) c.6178G>T (p.Asp2060Tyr) c.6103G>T (p.Asp2035Tyr) c.5803G>T (p.Asp1935Tyr) c.3067G>T (p.Asp1023Tyr) c.1960G>T (p.Asp654Tyr) c.5986G>T (p.Asp1996Tyr) c.1738G>T (p.Asp580Tyr) c.4966G>T (p.Asp1656Tyr) | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.99699585A>C | CA371874086 | VPS13B | c.6182A>C (p.Asp2061Ala) n.6252A>C c.*1864A>C (n.*1864A>C) c.6107A>C (p.Asp2036Ala) c.6179A>C (p.Asp2060Ala) c.6104A>C (p.Asp2035Ala) c.5804A>C (p.Asp1935Ala) c.3068A>C (p.Asp1023Ala) c.1961A>C (p.Asp654Ala) c.5987A>C (p.Asp1996Ala) c.1739A>C (p.Asp580Ala) c.4967A>C (p.Asp1656Ala) | |
8 | g.99699585A>G | CA371874090 | VPS13B | c.6182A>G (p.Asp2061Gly) n.6252A>G c.*1864A>G (n.*1864A>G) c.6107A>G (p.Asp2036Gly) c.6179A>G (p.Asp2060Gly) c.6104A>G (p.Asp2035Gly) c.5804A>G (p.Asp1935Gly) c.3068A>G (p.Asp1023Gly) c.1961A>G (p.Asp654Gly) c.5987A>G (p.Asp1996Gly) c.1739A>G (p.Asp580Gly) c.4967A>G (p.Asp1656Gly) | |
8 | g.99699585A>T | CA371874088 | VPS13B | c.6182A>T (p.Asp2061Val) n.6252A>T c.*1864A>T (n.*1864A>T) c.6107A>T (p.Asp2036Val) c.6179A>T (p.Asp2060Val) c.6104A>T (p.Asp2035Val) c.5804A>T (p.Asp1935Val) c.3068A>T (p.Asp1023Val) c.1961A>T (p.Asp654Val) c.5987A>T (p.Asp1996Val) c.1739A>T (p.Asp580Val) c.4967A>T (p.Asp1656Val) | |
8 | g.99699586_99699588dup | CA2688068488 | VPS13B | c.6183_6185dup (p.Asp2061_Gln2062insHis) n.6253_6255dup c.*1865_*1867dup (n.*1865_*1867dup) c.6108_6110dup (p.Asp2036_Gln2037insHis) c.6180_6182dup (p.Asp2060_Gln2061insHis) c.6105_6107dup (p.Asp2035_Gln2036insHis) c.5805_5807dup (p.Asp1935_Gln1936insHis) c.3069_3071dup (p.Asp1023_Gln1024insHis) c.1962_1964dup (p.Asp654_Gln655insHis) c.5988_5990dup (p.Asp1996_Gln1997insHis) c.1740_1742dup (p.Asp580_Gln581insHis) c.4968_4970dup (p.Asp1656_Gln1657insHis) | gnomAD v4 |
8 | g.99699586T>A | CA371874093 | VPS13B | c.6183T>A (p.Asp2061Glu) n.6253T>A c.*1865T>A (n.*1865T>A) c.6108T>A (p.Asp2036Glu) c.6180T>A (p.Asp2060Glu) c.6105T>A (p.Asp2035Glu) c.5805T>A (p.Asp1935Glu) c.3069T>A (p.Asp1023Glu) c.1962T>A (p.Asp654Glu) c.5988T>A (p.Asp1996Glu) c.1740T>A (p.Asp580Glu) c.4968T>A (p.Asp1656Glu) | |
8 | g.99699586T>C | CA462448643 | VPS13B | c.6183T>C (p.Asp2061=) n.6253T>C c.*1865T>C (n.*1865T>C) c.6108T>C (p.Asp2036=) c.6180T>C (p.Asp2060=) c.6105T>C (p.Asp2035=) c.5805T>C (p.Asp1935=) c.3069T>C (p.Asp1023=) c.1962T>C (p.Asp654=) c.5988T>C (p.Asp1996=) c.1740T>C (p.Asp580=) c.4968T>C (p.Asp1656=) | |
8 | g.99699586T>G | CA371874096 | VPS13B | c.6183T>G (p.Asp2061Glu) n.6253T>G c.*1865T>G (n.*1865T>G) c.6108T>G (p.Asp2036Glu) c.6180T>G (p.Asp2060Glu) c.6105T>G (p.Asp2035Glu) c.5805T>G (p.Asp1935Glu) c.3069T>G (p.Asp1023Glu) c.1962T>G (p.Asp654Glu) c.5988T>G (p.Asp1996Glu) c.1740T>G (p.Asp580Glu) c.4968T>G (p.Asp1656Glu) | |
8 | g.99699587C>A | CA371874100 | VPS13B | c.6184C>A (p.Gln2062Lys) n.6254C>A c.*1866C>A (n.*1866C>A) c.6109C>A (p.Gln2037Lys) c.6181C>A (p.Gln2061Lys) c.6106C>A (p.Gln2036Lys) c.5806C>A (p.Gln1936Lys) c.3070C>A (p.Gln1024Lys) c.1963C>A (p.Gln655Lys) c.5989C>A (p.Gln1997Lys) c.1741C>A (p.Gln581Lys) c.4969C>A (p.Gln1657Lys) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99699587C= | CA1805815115 | VPS13B | c.6184C= (p.Gln2062=) n.6254C= c.*1866C= (n.*1866C=) c.6109C= (p.Gln2037=) c.6181C= (p.Gln2061=) c.6106C= (p.Gln2036=) c.5806C= (p.Gln1936=) c.3070C= (p.Gln1024=) c.1963C= (p.Gln655=) c.5989C= (p.Gln1997=) c.1741C= (p.Gln581=) c.4969C= (p.Gln1657=) | |
8 | g.99699587C>G | CA371874101 | VPS13B | c.6184C>G (p.Gln2062Glu) n.6254C>G c.*1866C>G (n.*1866C>G) c.6109C>G (p.Gln2037Glu) c.6181C>G (p.Gln2061Glu) c.6106C>G (p.Gln2036Glu) c.5806C>G (p.Gln1936Glu) c.3070C>G (p.Gln1024Glu) c.1963C>G (p.Gln655Glu) c.5989C>G (p.Gln1997Glu) c.1741C>G (p.Gln581Glu) c.4969C>G (p.Gln1657Glu) | |
8 | g.99699587C>T | CA371874104 | VPS13B | c.6184C>T (p.Gln2062Ter) n.6254C>T c.*1866C>T (n.*1866C>T) c.6109C>T (p.Gln2037Ter) c.6181C>T (p.Gln2061Ter) c.6106C>T (p.Gln2036Ter) c.5806C>T (p.Gln1936Ter) c.3070C>T (p.Gln1024Ter) c.1963C>T (p.Gln655Ter) c.5989C>T (p.Gln1997Ter) c.1741C>T (p.Gln581Ter) c.4969C>T (p.Gln1657Ter) | |
8 | g.99699588A>C | CA371874107 | VPS13B | c.6185A>C (p.Gln2062Pro) n.6255A>C c.*1867A>C (n.*1867A>C) c.6110A>C (p.Gln2037Pro) c.6182A>C (p.Gln2061Pro) c.6107A>C (p.Gln2036Pro) c.5807A>C (p.Gln1936Pro) c.3071A>C (p.Gln1024Pro) c.1964A>C (p.Gln655Pro) c.5990A>C (p.Gln1997Pro) c.1742A>C (p.Gln581Pro) c.4970A>C (p.Gln1657Pro) | |
8 | g.99699588A>G | CA371874110 | VPS13B | c.6185A>G (p.Gln2062Arg) n.6255A>G c.*1867A>G (n.*1867A>G) c.6110A>G (p.Gln2037Arg) c.6182A>G (p.Gln2061Arg) c.6107A>G (p.Gln2036Arg) c.5807A>G (p.Gln1936Arg) c.3071A>G (p.Gln1024Arg) c.1964A>G (p.Gln655Arg) c.5990A>G (p.Gln1997Arg) c.1742A>G (p.Gln581Arg) c.4970A>G (p.Gln1657Arg) | |
8 | g.99699588A>T | CA371874113 | VPS13B | c.6185A>T (p.Gln2062Leu) n.6255A>T c.*1867A>T (n.*1867A>T) c.6110A>T (p.Gln2037Leu) c.6182A>T (p.Gln2061Leu) c.6107A>T (p.Gln2036Leu) c.5807A>T (p.Gln1936Leu) c.3071A>T (p.Gln1024Leu) c.1964A>T (p.Gln655Leu) c.5990A>T (p.Gln1997Leu) c.1742A>T (p.Gln581Leu) c.4970A>T (p.Gln1657Leu) | |
8 | g.99699589G>A | CA462448644 | VPS13B | c.6186G>A (p.Gln2062=) n.6256G>A c.*1868G>A (n.*1868G>A) c.6111G>A (p.Gln2037=) c.6183G>A (p.Gln2061=) c.6108G>A (p.Gln2036=) c.5808G>A (p.Gln1936=) c.3072G>A (p.Gln1024=) c.1965G>A (p.Gln655=) c.5991G>A (p.Gln1997=) c.1743G>A (p.Gln581=) c.4971G>A (p.Gln1657=) | |
8 | g.99699589G>C | CA371874117 | VPS13B | c.6186G>C (p.Gln2062His) n.6256G>C c.*1868G>C (n.*1868G>C) c.6111G>C (p.Gln2037His) c.6183G>C (p.Gln2061His) c.6108G>C (p.Gln2036His) c.5808G>C (p.Gln1936His) c.3072G>C (p.Gln1024His) c.1965G>C (p.Gln655His) c.5991G>C (p.Gln1997His) c.1743G>C (p.Gln581His) c.4971G>C (p.Gln1657His) | COSMIC COSMIC |
8 | g.99699589G>T | CA371874119 | VPS13B | c.6186G>T (p.Gln2062His) n.6256G>T c.*1868G>T (n.*1868G>T) c.6111G>T (p.Gln2037His) c.6183G>T (p.Gln2061His) c.6108G>T (p.Gln2036His) c.5808G>T (p.Gln1936His) c.3072G>T (p.Gln1024His) c.1965G>T (p.Gln655His) c.5991G>T (p.Gln1997His) c.1743G>T (p.Gln581His) c.4971G>T (p.Gln1657His) | |
8 | g.99699590A>C | CA371874128 | VPS13B | c.6187A>C (p.Ile2063Leu) n.6257A>C c.*1869A>C (n.*1869A>C) c.6112A>C (p.Ile2038Leu) c.6184A>C (p.Ile2062Leu) c.6109A>C (p.Ile2037Leu) c.5809A>C (p.Ile1937Leu) c.3073A>C (p.Ile1025Leu) c.1966A>C (p.Ile656Leu) c.5992A>C (p.Ile1998Leu) c.1744A>C (p.Ile582Leu) c.4972A>C (p.Ile1658Leu) | |
8 | g.99699590A>G | CA371874125 | VPS13B | c.6187A>G (p.Ile2063Val) n.6257A>G c.*1869A>G (n.*1869A>G) c.6112A>G (p.Ile2038Val) c.6184A>G (p.Ile2062Val) c.6109A>G (p.Ile2037Val) c.5809A>G (p.Ile1937Val) c.3073A>G (p.Ile1025Val) c.1966A>G (p.Ile656Val) c.5992A>G (p.Ile1998Val) c.1744A>G (p.Ile582Val) c.4972A>G (p.Ile1658Val) | |
8 | g.99699590A>T | CA371874122 | VPS13B | c.6187A>T (p.Ile2063Leu) n.6257A>T c.*1869A>T (n.*1869A>T) c.6112A>T (p.Ile2038Leu) c.6184A>T (p.Ile2062Leu) c.6109A>T (p.Ile2037Leu) c.5809A>T (p.Ile1937Leu) c.3073A>T (p.Ile1025Leu) c.1966A>T (p.Ile656Leu) c.5992A>T (p.Ile1998Leu) c.1744A>T (p.Ile582Leu) c.4972A>T (p.Ile1658Leu) |