Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.206123251A>G | CA2753996700 | NDUFS1 | c.*934T>C (n.*934T>C) | |
2 | g.206123253_206123254delinsCA | CA2496476974 | NDUFS1 | c.*931_*932delinsTG (n.*931_*932delinsTG) | |
2 | g.206123255del | CA763787295 | NDUFS1 | c.*931del (n.*931del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206123255A= | CA2496476975 | NDUFS1 | c.*930T= (n.*930T=) | |
2 | g.206123255A>G | CA763787297 | NDUFS1 | c.*930T>C (n.*930T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206123256T>C | CA2662803111 | NDUFS1 | c.*929A>G (n.*929A>G) | gnomAD v4 |
2 | g.206123257G>A | CA1041606468 | NDUFS1 | c.*928C>T (n.*928C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206123257G= | CA2496476976 | NDUFS1 | c.*928C= (n.*928C=) | |
2 | g.206123259G>A | CA2496476978 | NDUFS1 | c.*926C>T (n.*926C>T) | dbSNP |
2 | g.206123259G= | CA2496476977 | NDUFS1 | c.*926C= (n.*926C=) | |
2 | g.206123259G>T | CA63645578 | NDUFS1 | c.*926C>A (n.*926C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206123262_206123263insA | CA2753996702 | NDUFS1 | c.*922_*923insT (n.*922_*923insT) | |
2 | g.206123263C>T | CA2662803112 | NDUFS1 | c.*922G>A (n.*922G>A) | gnomAD v4 |
2 | g.206123264T>C | CA2496476980 | NDUFS1 | c.*921A>G (n.*921A>G) | dbSNP |
2 | g.206123264T= | CA2496476979 | NDUFS1 | c.*921A= (n.*921A=) | |
2 | g.206123265A>G | CA2662803113 | NDUFS1 | c.*920T>C (n.*920T>C) | gnomAD v4 |
2 | g.206123269T>C | CA763787299 | NDUFS1 | c.*916A>G (n.*916A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206123269T= | CA2496476981 | NDUFS1 | c.*916A= (n.*916A=) | |
2 | g.206123270A= | CA2496476982 | NDUFS1 | c.*915T= (n.*915T=) | |
2 | g.206123270A>C | CA63645583 | NDUFS1 | c.*915T>G (n.*915T>G) | dbSNP |
2 | g.206123271T>C | CA2496476984 | NDUFS1 | c.*914A>G (n.*914A>G) | dbSNP |
2 | g.206123271T= | CA2496476983 | NDUFS1 | c.*914A= (n.*914A=) | |
2 | g.206123274C= | CA2496476985 | NDUFS1 | c.*911G= (n.*911G=) | |
2 | g.206123274C>T | CA2496476986 | NDUFS1 | c.*911G>A (n.*911G>A) | dbSNP |
2 | g.206123276_206123278delinsCTT | CA2496476987 | NDUFS1 | c.*907_*909delinsAAG (n.*907_*909delinsAAG) | |
2 | g.206123277_206123278del | CA63645592 | NDUFS1 | c.*907_*908del (n.*907_*908del) | dbSNP |
2 | g.206123281G>A | CA2496476989 | NDUFS1 | c.*904C>T (n.*904C>T) | dbSNP |
2 | g.206123281G>C | CA2701361103 | NDUFS1 | c.*904C>G (n.*904C>G) | dbSNP |
2 | g.206123281G= | CA2496476988 | NDUFS1 | c.*904C= (n.*904C=) | |
2 | g.206123284C= | CA2496476990 | NDUFS1 | c.*901G= (n.*901G=) | |
2 | g.206123285T>G | CA1041606475 | NDUFS1 | c.*900A>C (n.*900A>C) | dbSNP |
2 | g.206123285T= | CA2496476991 | NDUFS1 | c.*900A= (n.*900A=) | |
2 | g.206123301_206123302insATCCCTCATTCCAAGGGA | CA763787306 | NDUFS1 | c.*900_*901insTTCCCTTGGAATGAGGGA (n.*900_*901insTTCCCTTGGAATGAGGGA) | dbSNP |
2 | g.206123289T>G | CA2496476993 | NDUFS1 | c.*896A>C (n.*896A>C) | dbSNP |
2 | g.206123289T= | CA2496476992 | NDUFS1 | c.*896A= (n.*896A=) | |
2 | g.206123290C>A | CA2662803115 | NDUFS1 | c.*895G>T (n.*895G>T) | gnomAD v4 |
2 | g.206123292T>C | CA2496476995 | NDUFS1 | c.*893A>G (n.*893A>G) | dbSNP |
2 | g.206123292T= | CA2496476994 | NDUFS1 | c.*893A= (n.*893A=) | |
2 | g.206123294C>A | CA2607285523 | NDUFS1 | c.*891G>T (n.*891G>T) | gnomAD v3 gnomAD v4 |
2 | g.206123298G>A | CA539054691 | NDUFS1 | c.*887C>T (n.*887C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206123298G= | CA2496476996 | NDUFS1 | c.*887C= (n.*887C=) | |
2 | g.206123298G>T | CA2504835853 | NDUFS1 | c.*887C>A (n.*887C>A) | |
2 | g.206123303G>A | CA2701366022 | NDUFS1 | c.*882C>T (n.*882C>T) | dbSNP |
2 | g.206123303G>C | CA2496476998 | NDUFS1 | c.*882C>G (n.*882C>G) | dbSNP |
2 | g.206123303G= | CA2496476997 | NDUFS1 | c.*882C= (n.*882C=) | |
2 | g.206123304T>A | CA1041606477 | NDUFS1 | c.*881A>T (n.*881A>T) | gnomAD v3 gnomAD v4 |
2 | g.206123304T>G | CA2496477000 | NDUFS1 | c.*881A>C (n.*881A>C) | dbSNP |
2 | g.206123304T= | CA2496476999 | NDUFS1 | c.*881A= (n.*881A=) | |
2 | g.206123305C>A | CA1041606478 | NDUFS1 | c.*880G>T (n.*880G>T) | gnomAD v3 gnomAD v4 |
2 | g.206123307C>A | CA1041606479 | NDUFS1 | c.*878G>T (n.*878G>T) | gnomAD v3 gnomAD v4 |