Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.132868773del | CA1081664201 | UQCRQ | c.*1191del (n.*1191del) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.132868774C= | CA1583356754 | UQCRQ | c.*1192C= (n.*1192C=) | |
5 | g.132868774C>T | CA562784280 | UQCRQ | c.*1192C>T (n.*1192C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132868775A= | CA1583356755 | UQCRQ | c.*1193A= (n.*1193A=) | |
5 | g.132868775A>C | CA804030109 | UQCRQ | c.*1193A>C (n.*1193A>C) | dbSNP |
5 | g.132868775A>G | CA15360921 | UQCRQ | c.*1193A>G (n.*1193A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132868775A>T | CA2581497019 | UQCRQ | c.*1193A>T (n.*1193A>T) | |
5 | g.132868776A= | CA1583356756 | UQCRQ | c.*1194A= (n.*1194A=) | |
5 | g.132868776A>G | CA804030110 | UQCRQ | c.*1194A>G (n.*1194A>G) | dbSNP |
5 | g.132868777C= | CA1583356757 | UQCRQ | c.*1195C= (n.*1195C=) | |
5 | g.132868777C>G | CA127292432 | UQCRQ | c.*1195C>G (n.*1195C>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.132868779A= | CA1583356758 | UQCRQ | c.*1197A= (n.*1197A=) | |
5 | g.132868779A>G | CA127292435 | UQCRQ | c.*1197A>G (n.*1197A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132868784T>A | CA562784281 | UQCRQ | c.*1202T>A (n.*1202T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132868784T= | CA1583356759 | UQCRQ | c.*1202T= (n.*1202T=) | |
5 | g.132868785G= | CA1583356760 | UQCRQ | c.*1203G= (n.*1203G=) | |
5 | g.132868785G>T | CA127292437 | UQCRQ | c.*1203G>T (n.*1203G>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.132868786G>A | CA10622582 | UQCRQ | c.*1204G>A (n.*1204G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132868786G= | CA1583356761 | UQCRQ | c.*1204G= (n.*1204G=) | |
5 | g.132868789C= | CA1583356762 | UQCRQ | c.*1207C= (n.*1207C=) | |
5 | g.132868789C>T | CA127292440 | UQCRQ | c.*1207C>T (n.*1207C>T) | dbSNP |
5 | g.132868794A= | CA1583356763 | UQCRQ | c.*1212A= (n.*1212A=) | |
5 | g.132868794A>G | CA804030118 | UQCRQ | c.*1212A>G (n.*1212A>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.132868795G>A | CA804030121 | UQCRQ | c.*1213G>A (n.*1213G>A) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.132868795G= | CA1583356764 | UQCRQ | c.*1213G= (n.*1213G=) | |
5 | g.132868802dup | CA2768445551 | UQCRQ | c.*1220dup (n.*1220dup) | |
5 | g.132868801A= | CA1583356765 | UQCRQ | c.*1219A= (n.*1219A=) | |
5 | g.132868801A>G | CA804030127 | UQCRQ | c.*1219A>G (n.*1219A>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.132868804A= | CA1583356766 | UQCRQ | c.*1222A= (n.*1222A=) | |
5 | g.132868804A>G | CA127292441 | UQCRQ | c.*1222A>G (n.*1222A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132868806T= | CA1583356767 | UQCRQ | c.*1224T= (n.*1224T=) | |
5 | g.132868807_132868808dup | CA1583356768 | UQCRQ | c.*1225_*1226dup (n.*1225_*1226dup) | dbSNP |
5 | g.132868809C= | CA1583356769 | UQCRQ | c.*1227C= (n.*1227C=) | |
5 | g.132868809C>T | CA1583356770 | UQCRQ | c.*1227C>T (n.*1227C>T) | dbSNP |
5 | g.132868810T>C | CA127292442 | UQCRQ | c.*1228T>C (n.*1228T>C) | dbSNP |
5 | g.132868810T= | CA1583356771 | UQCRQ | c.*1228T= (n.*1228T=) | |
5 | g.132868814G>A | CA127292445 | UQCRQ | c.*1232G>A (n.*1232G>A) | dbSNP |
5 | g.132868814G= | CA1583356772 | UQCRQ | c.*1232G= (n.*1232G=) | |
5 | g.132868814G>T | CA1081664212 | UQCRQ | c.*1232G>T (n.*1232G>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.132868817C= | CA1583356773 | UQCRQ | c.*1235C= (n.*1235C=) | |
5 | g.132868817C>T | CA127292447 | UQCRQ | c.*1235C>T (n.*1235C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132868818T>C | CA2604452460 | UQCRQ | c.*1236T>C (n.*1236T>C) | gnomAD v3 gnomAD v4 |
5 | g.132868819T>G | CA1583356775 | UQCRQ | c.*1237T>G (n.*1237T>G) | dbSNP |
5 | g.132868819T= | CA1583356774 | UQCRQ | c.*1237T= (n.*1237T=) | |
5 | g.132868821A= | CA1583356776 | UQCRQ | c.*1239A= (n.*1239A=) | |
5 | g.132868821A>G | CA127292449 | UQCRQ | c.*1239A>G (n.*1239A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132868822T>C | CA804030131 | UQCRQ | c.*1240T>C (n.*1240T>C) | dbSNP |
5 | g.132868822T= | CA1583356777 | UQCRQ | c.*1240T= (n.*1240T=) | |
5 | g.132868827A= | CA1583356778 | UQCRQ | c.*1245A= (n.*1245A=) | |
5 | g.132868827A>G | CA127292451 | UQCRQ | c.*1245A>G (n.*1245A>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.132868835_132868838del | CA2768445552 | UQCRQ | c.*1253_*1256del (n.*1253_*1256del) | |
5 | g.132868836C>T | CA2768445553 | UQCRQ | c.*1254C>T (n.*1254C>T) | |
5 | g.132868838_132868839delinsCT | CA1583356779 | UQCRQ | c.*1256_*1257delinsCT (n.*1256_*1257delinsCT) | |
5 | g.132868839del | CA804030136 | UQCRQ | c.*1257del (n.*1257del) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.132868839_132868840insAAAATAAA | CA2768445554 | UQCRQ | c.*1257_*1258insAAAATAAA (n.*1257_*1258insAAAATAAA) | |
5 | g.132868840_132868841insTTT | CA2768445555 | UQCRQ | c.*1258_*1259insTTT (n.*1258_*1259insTTT) | |
5 | g.132868841A= | CA1583356780 | UQCRQ | c.*1259A= (n.*1259A=) | |
5 | g.132868841A>T | CA1081664219 | UQCRQ | c.*1259A>T (n.*1259A>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.132868841_132868850delinsATCTAAAGCC | CA1583356781 | |||
5 | g.132868843_132868851del | CA1583356782 | dbSNP | ||
5 | g.132868843C>A | CA127292455 | UQCRQ | c.*1261C>A (n.*1261C>A) | dbSNP |
5 | g.132868843C= | CA1583356783 | UQCRQ | c.*1261C= (n.*1261C=) | |
5 | g.132868844_132868845dup | CA1583356784 | UQCRQ | c.*1262_*1263dup (n.*1262_*1263dup) | dbSNP |
5 | g.132868847A= | CA1583356785 | UQCRQ | c.*1265A= (n.*1265A=) | |
5 | g.132868847A>G | CA1583356786 | UQCRQ | c.*1265A>G (n.*1265A>G) | dbSNP |
5 | g.132868856A= | CA1583356787 | |||
5 | g.132868856A>G | CA127292464 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
5 | g.132868857T>G | CA127292468 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
5 | g.132868857T= | CA1583356788 | |||
5 | g.132868858T>G | CA2537936281 | |||
5 | g.132868860T>C | CA562784282 | dbSNP gnomAD v2 | ||
5 | g.132868860T>G | CA2513534004 | |||
5 | g.132868860T= | CA1583356789 | |||
5 | g.132868861C= | CA1583356790 | |||
5 | g.132868861C>T | CA127292470 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
5 | g.132868862T>G | CA2516212671 | |||
5 | g.132868869T>G | CA1081664225 | gnomAD v3 gnomAD v4 | ||
5 | g.132868870A= | CA1583356791 | |||
5 | g.132868870A>G | CA1583356792 | dbSNP | ||
5 | g.132868871T>C | CA2604452464 | dbSNP gnomAD v3 gnomAD v4 | ||
5 | g.132868871T>G | CA2604452463 | gnomAD v3 gnomAD v4 | ||
5 | g.132868872_132868873insTTTTTTTTT | CA1081664240 | gnomAD v3 gnomAD v4 | ||
5 | g.132868872T>G | CA1081664244 | gnomAD v3 gnomAD v4 | ||
5 | g.132868874_132868875del | CA2542584034 | |||
5 | g.132868873_132868882del | CA1081664245 | gnomAD v3 gnomAD v4 |