Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.206121970G>A | CA2753996547 | NDUFS1 | c.*2215C>T (n.*2215C>T) | |
2 | g.206121970G= | CA2496476352 | NDUFS1 | c.*2215C= (n.*2215C=) | |
2 | g.206121971_206121972insTT | CA763786637 | NDUFS1 | c.*2214_*2215insAA (n.*2214_*2215insAA) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206121973A>G | CA2662802051 | NDUFS1 | c.*2212T>C (n.*2212T>C) | gnomAD v4 |
2 | g.206121974G>A | CA1041604046 | NDUFS1 | c.*2211C>T (n.*2211C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206121974G= | CA2496476353 | NDUFS1 | c.*2211C= (n.*2211C=) | |
2 | g.206121975A>G | CA2662802054 | NDUFS1 | c.*2210T>C (n.*2210T>C) | gnomAD v4 |
2 | g.206121976G>T | CA2662802056 | NDUFS1 | c.*2209C>A (n.*2209C>A) | gnomAD v4 |
2 | g.206121978T>C | CA539388301 | NDUFS1 | c.*2207A>G (n.*2207A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206121978T>G | CA539388302 | NDUFS1 | c.*2207A>C (n.*2207A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206121978T= | CA2496476354 | NDUFS1 | c.*2207A= (n.*2207A=) | |
2 | g.206121979G>A | CA2496476356 | NDUFS1 | c.*2206C>T (n.*2206C>T) | dbSNP |
2 | g.206121979G= | CA2496476355 | NDUFS1 | c.*2206C= (n.*2206C=) | |
2 | g.206121980G>C | CA63644557 | NDUFS1 | c.*2205C>G (n.*2205C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206121980G= | CA2496476357 | NDUFS1 | c.*2205C= (n.*2205C=) | |
2 | g.206121981G>A | CA763786643 | NDUFS1 | c.*2204C>T (n.*2204C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206121981G= | CA2496476358 | NDUFS1 | c.*2204C= (n.*2204C=) | |
2 | g.206121983A>G | CA2662802058 | NDUFS1 | c.*2202T>C (n.*2202T>C) | gnomAD v4 |
2 | g.206121986T>G | CA2753996548 | NDUFS1 | c.*2199A>C (n.*2199A>C) | |
2 | g.206121987T>C | CA539388303 | NDUFS1 | c.*2198A>G (n.*2198A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206121987T= | CA2496476359 | NDUFS1 | c.*2198A= (n.*2198A=) | |
2 | g.206121988G>C | CA763786656 | NDUFS1 | c.*2197C>G (n.*2197C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206121988G= | CA2496476360 | NDUFS1 | c.*2197C= (n.*2197C=) | |
2 | g.206121988dup | CA2662802060 | NDUFS1 | c.*2197dup (n.*2197dup) | gnomAD v4 |
2 | g.206121991T>A | CA2753996549 | NDUFS1 | c.*2194A>T (n.*2194A>T) | |
2 | g.206121993_206122017del | CA2522368305 | NDUFS1 | c.*2169_*2193del (n.*2169_*2193del) | |
2 | g.206121997T>C | CA2662802063 | NDUFS1 | c.*2188A>G (n.*2188A>G) | gnomAD v4 |
2 | g.206122000A= | CA2496476361 | NDUFS1 | c.*2185T= (n.*2185T=) | |
2 | g.206122000A>C | CA63644567 | NDUFS1 | c.*2185T>G (n.*2185T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206122002C>T | CA2607285492 | NDUFS1 | c.*2183G>A (n.*2183G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206122004_206122005delinsCT | CA2496476362 | NDUFS1 | c.*2180_*2181delinsAG (n.*2180_*2181delinsAG) | |
2 | g.206122008del | CA1041604050 | NDUFS1 | c.*2180del (n.*2180del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206122007T>C | CA763786660 | NDUFS1 | c.*2178A>G (n.*2178A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206122007T= | CA2496476363 | NDUFS1 | c.*2178A= (n.*2178A=) | |
2 | g.206122008T>G | CA63644574 | NDUFS1 | c.*2177A>C (n.*2177A>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206122008T= | CA2496476364 | NDUFS1 | c.*2177A= (n.*2177A=) | |
2 | g.206122010G= | CA2496476365 | NDUFS1 | c.*2175C= (n.*2175C=) | |
2 | g.206122010G>T | CA2662802068 | NDUFS1 | c.*2175C>A (n.*2175C>A) | gnomAD v4 |
2 | g.206122011C>A | CA2662802071 | NDUFS1 | c.*2174G>T (n.*2174G>T) | gnomAD v4 |
2 | g.206122011C= | CA2496476366 | NDUFS1 | c.*2174G= (n.*2174G=) | |
2 | g.206122011C>G | CA2496476367 | NDUFS1 | c.*2174G>C (n.*2174G>C) | dbSNP |
2 | g.206122011C>T | CA2662802069 | NDUFS1 | c.*2174G>A (n.*2174G>A) | gnomAD v4 |
2 | g.206122011dup | CA763786665 | NDUFS1 | c.*2174dup (n.*2174dup) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206122014G= | CA2496476368 | NDUFS1 | c.*2171C= (n.*2171C=) | |
2 | g.206122014G>T | CA539388304 | NDUFS1 | c.*2171C>A (n.*2171C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206122018T>G | CA1041604054 | NDUFS1 | c.*2167A>C (n.*2167A>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206122018T= | CA2496476369 | NDUFS1 | c.*2167A= (n.*2167A=) | |
2 | g.206122023C= | CA2496476370 | NDUFS1 | c.*2162G= (n.*2162G=) | |
2 | g.206122023C>T | CA2496476371 | NDUFS1 | c.*2162G>A (n.*2162G>A) | dbSNP |
2 | g.206122030A>G | CA2662802076 | NDUFS1 | c.*2155T>C (n.*2155T>C) | gnomAD v4 |
2 | g.206122036C>A | CA763786667 | NDUFS1 | c.*2149G>T (n.*2149G>T) | dbSNP |
2 | g.206122036C= | CA2496476372 | NDUFS1 | c.*2149G= (n.*2149G=) | |
2 | g.206122036C>T | CA2753996550 | NDUFS1 | c.*2149G>A (n.*2149G>A) | |
2 | g.206122037T>C | CA2662802078 | NDUFS1 | c.*2148A>G (n.*2148A>G) | gnomAD v4 |
2 | g.206122038G>A | CA63644590 | NDUFS1 | c.*2147C>T (n.*2147C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206122038G= | CA2496476373 | NDUFS1 | c.*2147C= (n.*2147C=) | |
2 | g.206122039G>A | CA2496476375 | NDUFS1 | c.*2146C>T (n.*2146C>T) | dbSNP |
2 | g.206122039G= | CA2496476374 | NDUFS1 | c.*2146C= (n.*2146C=) | |
2 | g.206122040G>C | CA2496476377 | NDUFS1 | c.*2145C>G (n.*2145C>G) | dbSNP |
2 | g.206122040G= | CA2496476376 | NDUFS1 | c.*2145C= (n.*2145C=) | |
2 | g.206122041C>A | CA2551446736 | NDUFS1 | c.*2144G>T (n.*2144G>T) | gnomAD v4 |
2 | g.206122043T>A | CA63644598 | NDUFS1 | c.*2142A>T (n.*2142A>T) | dbSNP |
2 | g.206122043T= | CA2496476378 | NDUFS1 | c.*2142A= (n.*2142A=) | |
2 | g.206122046del | CA2753996551 | NDUFS1 | c.*2142del (n.*2142del) | |
2 | g.206122049G>A | CA2496476380 | NDUFS1 | c.*2136C>T (n.*2136C>T) | dbSNP |
2 | g.206122049G= | CA2496476379 | NDUFS1 | c.*2136C= (n.*2136C=) | |
2 | g.206122049G>T | CA2662802083 | NDUFS1 | c.*2136C>A (n.*2136C>A) | gnomAD v4 |
2 | g.206122054G>A | CA539388305 | NDUFS1 | c.*2131C>T (n.*2131C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206122054G= | CA2496476381 | NDUFS1 | c.*2131C= (n.*2131C=) | |
2 | g.206122055C= | CA2496476382 | NDUFS1 | c.*2130G= (n.*2130G=) | |
2 | g.206122055C>T | CA1041604060 | NDUFS1 | c.*2130G>A (n.*2130G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206122057C= | CA2496476383 | NDUFS1 | c.*2128G= (n.*2128G=) | |
2 | g.206122057C>T | CA63644602 | NDUFS1 | c.*2128G>A (n.*2128G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206122061A= | CA2496476384 | NDUFS1 | c.*2124T= (n.*2124T=) | |
2 | g.206122061A>G | CA763786672 | NDUFS1 | c.*2124T>C (n.*2124T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206122062C>A | CA2662802086 | NDUFS1 | c.*2123G>T (n.*2123G>T) | gnomAD v4 |
2 | g.206122063T>C | CA2522012091 | NDUFS1 | c.*2122A>G (n.*2122A>G) | |
2 | g.206122065C>A | CA2662802088 | NDUFS1 | c.*2120G>T (n.*2120G>T) | gnomAD v4 |
2 | g.206122065C>T | CA2662802089 | NDUFS1 | c.*2120G>A (n.*2120G>A) | gnomAD v4 |
2 | g.206122067T>C | CA63644603 | NDUFS1 | c.*2118A>G (n.*2118A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206122067T>G | CA763786678 | NDUFS1 | c.*2118A>C (n.*2118A>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206122067T= | CA2496476385 | NDUFS1 | c.*2118A= (n.*2118A=) | |
2 | g.206122068G>A | CA763786681 | NDUFS1 | c.*2117C>T (n.*2117C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206122068G= | CA2496476386 | NDUFS1 | c.*2117C= (n.*2117C=) | |
2 | g.206122069A>T | CA2662802093 | NDUFS1 | c.*2116T>A (n.*2116T>A) | gnomAD v4 |
2 | g.206122070T>C | CA763786685 | NDUFS1 | c.*2115A>G (n.*2115A>G) | dbSNP |
2 | g.206122070T= | CA2496476387 | NDUFS1 | c.*2115A= (n.*2115A=) |