Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68036383_68036462del | CA2792527949 | NDUFS8 | c.501+2_502del c.433+2_434del c.*556+2_*557del c.63+2_64del n.353+2_354del c.381+2_382del | |
11 | g.68036398_68036467del | CA2792527952 | NDUFS8 | c.501+17_507del c.433+17_439del c.*556+17_*562del c.63+17_69del n.353+17_359del c.381+17_387del | |
11 | g.68036420_68036422del | CA2614692476 | NDUFS8 | c.501+39_502-40del (n.501+39_502-40del) c.433+39_434-40del c.*556+39_*557-40del (n.*556+39_*557-40del) c.63+39_64-40del (n.63+39_64-40del) n.353+39_354-40del c.381+39_382-40del (n.381+39_382-40del) | gnomAD v4 |
11 | g.68036419C= | CA1980452093 | NDUFS8 | c.501+38C= (n.501+38C=) c.433+38C= c.*556+38C= (n.*556+38C=) c.63+38C= (n.63+38C=) n.353+38C= c.381+38C= (n.381+38C=) | |
11 | g.68036419C>T | CA224195019 | NDUFS8 | c.501+38C>T (n.501+38C>T) c.433+38C>T c.*556+38C>T (n.*556+38C>T) c.63+38C>T (n.63+38C>T) n.353+38C>T c.381+38C>T (n.381+38C>T) | dbSNP gnomAD v4 |
11 | g.68036420C= | CA1980452098 | NDUFS8 | c.501+39C= (n.501+39C=) c.433+39C= c.*556+39C= (n.*556+39C=) c.63+39C= (n.63+39C=) n.353+39C= c.381+39C= (n.381+39C=) | |
11 | g.68036420C>T | CA6146551 | NDUFS8 | c.501+39C>T (n.501+39C>T) c.433+39C>T c.*556+39C>T (n.*556+39C>T) c.63+39C>T (n.63+39C>T) n.353+39C>T c.381+39C>T (n.381+39C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68036422C>A | CA2839707890 | NDUFS8 | c.502-40C>A (n.502-40C>A) c.434-40C>A c.*557-40C>A (n.*557-40C>A) c.64-40C>A (n.64-40C>A) n.354-40C>A c.382-40C>A (n.382-40C>A) | |
11 | g.68036422C>T | CA2614692488 | NDUFS8 | c.502-40C>T (n.502-40C>T) c.434-40C>T c.*557-40C>T (n.*557-40C>T) c.64-40C>T (n.64-40C>T) n.354-40C>T c.382-40C>T (n.382-40C>T) | gnomAD v4 |
11 | g.68036423A= | CA1980452099 | NDUFS8 | c.502-39A= (n.502-39A=) c.434-39A= c.*557-39A= (n.*557-39A=) c.64-39A= (n.64-39A=) n.354-39A= c.382-39A= (n.382-39A=) | |
11 | g.68036423A>G | CA600238523 | NDUFS8 | c.502-39A>G (n.502-39A>G) c.434-39A>G c.*557-39A>G (n.*557-39A>G) c.64-39A>G (n.64-39A>G) n.354-39A>G c.382-39A>G (n.382-39A>G) | dbSNP gnomAD v2 |
11 | g.68036424G>A | CA224195020 | NDUFS8 | c.502-38G>A (n.502-38G>A) c.434-38G>A c.*557-38G>A (n.*557-38G>A) c.64-38G>A (n.64-38G>A) n.354-38G>A c.382-38G>A (n.382-38G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68036424G= | CA1980452100 | NDUFS8 | c.502-38G= (n.502-38G=) c.434-38G= c.*557-38G= (n.*557-38G=) c.64-38G= (n.64-38G=) n.354-38G= c.382-38G= (n.382-38G=) | |
11 | g.68036425C>A | CA2792527955 | NDUFS8 | c.502-37C>A (n.502-37C>A) c.434-37C>A c.*557-37C>A (n.*557-37C>A) c.64-37C>A (n.64-37C>A) n.354-37C>A c.382-37C>A (n.382-37C>A) | |
11 | g.68036425C= | CA1980452102 | NDUFS8 | c.502-37C= (n.502-37C=) c.434-37C= c.*557-37C= (n.*557-37C=) c.64-37C= (n.64-37C=) n.354-37C= c.382-37C= (n.382-37C=) | |
11 | g.68036425C>T | CA6146552 | NDUFS8 | c.502-37C>T (n.502-37C>T) c.434-37C>T c.*557-37C>T (n.*557-37C>T) c.64-37C>T (n.64-37C>T) n.354-37C>T c.382-37C>T (n.382-37C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68036425dup | CA2614692493 | NDUFS8 | c.502-37dup (n.502-37dup) c.434-37dup c.*557-37dup (n.*557-37dup) c.64-37dup (n.64-37dup) n.354-37dup c.382-37dup (n.382-37dup) | gnomAD v4 |
11 | g.68036426A= | CA1980452104 | NDUFS8 | c.502-36A= (n.502-36A=) c.434-36A= c.*557-36A= (n.*557-36A=) c.64-36A= (n.64-36A=) n.354-36A= c.382-36A= (n.382-36A=) | |
11 | g.68036426A>G | CA600238524 | NDUFS8 | c.502-36A>G (n.502-36A>G) c.434-36A>G c.*557-36A>G (n.*557-36A>G) c.64-36A>G (n.64-36A>G) n.354-36A>G c.382-36A>G (n.382-36A>G) | dbSNP gnomAD v2 |
11 | g.68036427G>T | CA654319927 | NDUFS8 | c.502-35G>T (n.502-35G>T) c.434-35G>T c.*557-35G>T (n.*557-35G>T) c.64-35G>T (n.64-35G>T) n.354-35G>T c.382-35G>T (n.382-35G>T) | COSMIC |
11 | g.68036429G>T | CA2614692500 | NDUFS8 | c.502-33G>T (n.502-33G>T) c.434-33G>T c.*557-33G>T (n.*557-33G>T) c.64-33G>T (n.64-33G>T) n.354-33G>T c.382-33G>T (n.382-33G>T) | gnomAD v4 |
11 | g.68036431C= | CA1980452105 | NDUFS8 | c.502-31C= (n.502-31C=) c.434-31C= c.*557-31C= (n.*557-31C=) c.64-31C= (n.64-31C=) n.354-31C= c.382-31C= (n.382-31C=) | |
11 | g.68036431C>G | CA600238525 | NDUFS8 | c.502-31C>G (n.502-31C>G) c.434-31C>G c.*557-31C>G (n.*557-31C>G) c.64-31C>G (n.64-31C>G) n.354-31C>G c.382-31C>G (n.382-31C>G) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68036438C>G | CA2574899197 | NDUFS8 | c.502-24C>G (n.502-24C>G) c.434-24C>G c.*557-24C>G (n.*557-24C>G) c.64-24C>G (n.64-24C>G) n.354-24C>G c.382-24C>G (n.382-24C>G) | gnomAD v4 |
11 | g.68036439C= | CA1980452107 | NDUFS8 | c.502-23C= (n.502-23C=) c.434-23C= c.*557-23C= (n.*557-23C=) c.64-23C= (n.64-23C=) n.354-23C= c.382-23C= (n.382-23C=) | |
11 | g.68036439C>T | CA6146553 | NDUFS8 | c.502-23C>T (n.502-23C>T) c.434-23C>T c.*557-23C>T (n.*557-23C>T) c.64-23C>T (n.64-23C>T) n.354-23C>T c.382-23C>T (n.382-23C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68036440G>A | CA6146554 | NDUFS8 | c.502-22G>A (n.502-22G>A) c.434-22G>A c.*557-22G>A (n.*557-22G>A) c.64-22G>A (n.64-22G>A) n.354-22G>A c.382-22G>A (n.382-22G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.68036440G= | CA1980452109 | NDUFS8 | c.502-22G= (n.502-22G=) c.434-22G= c.*557-22G= (n.*557-22G=) c.64-22G= (n.64-22G=) n.354-22G= c.382-22G= (n.382-22G=) | |
11 | g.68036440G>T | CA224195034 | NDUFS8 | c.502-22G>T (n.502-22G>T) c.434-22G>T c.*557-22G>T (n.*557-22G>T) c.64-22G>T (n.64-22G>T) n.354-22G>T c.382-22G>T (n.382-22G>T) | dbSNP |
11 | g.68036441T>C | CA2614692516 | NDUFS8 | c.502-21T>C (n.502-21T>C) c.434-21T>C c.*557-21T>C (n.*557-21T>C) c.64-21T>C (n.64-21T>C) n.354-21T>C c.382-21T>C (n.382-21T>C) | gnomAD v4 |
11 | g.68036442C>T | CA2574899198 | NDUFS8 | c.502-20C>T (n.502-20C>T) c.434-20C>T c.*557-20C>T (n.*557-20C>T) c.64-20C>T (n.64-20C>T) n.354-20C>T c.382-20C>T (n.382-20C>T) | |
11 | g.68036444del | CA2614692518 | NDUFS8 | c.502-18del (n.502-18del) c.434-18del c.*557-18del (n.*557-18del) c.64-18del (n.64-18del) n.354-18del c.382-18del (n.382-18del) | gnomAD v4 |
11 | g.68036443C>T | CA2614692520 | NDUFS8 | c.502-19C>T (n.502-19C>T) c.434-19C>T c.*557-19C>T (n.*557-19C>T) c.64-19C>T (n.64-19C>T) n.354-19C>T c.382-19C>T (n.382-19C>T) | gnomAD v4 |
11 | g.68036444C= | CA1980452111 | NDUFS8 | c.502-18C= (n.502-18C=) c.434-18C= c.*557-18C= (n.*557-18C=) c.64-18C= (n.64-18C=) n.354-18C= c.382-18C= (n.382-18C=) | |
11 | g.68036444C>T | CA224195045 | NDUFS8 | c.502-18C>T (n.502-18C>T) c.434-18C>T c.*557-18C>T (n.*557-18C>T) c.64-18C>T (n.64-18C>T) n.354-18C>T c.382-18C>T (n.382-18C>T) | dbSNP gnomAD v2 |
11 | g.68036446G>A | CA600238526 | NDUFS8 | c.502-16G>A (n.502-16G>A) c.434-16G>A c.*557-16G>A (n.*557-16G>A) c.64-16G>A (n.64-16G>A) n.354-16G>A c.382-16G>A (n.382-16G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68036446G>C | CA2574899199 | NDUFS8 | c.502-16G>C (n.502-16G>C) c.434-16G>C c.*557-16G>C (n.*557-16G>C) c.64-16G>C (n.64-16G>C) n.354-16G>C c.382-16G>C (n.382-16G>C) | |
11 | g.68036446G= | CA1980452114 | NDUFS8 | c.502-16G= (n.502-16G=) c.434-16G= c.*557-16G= (n.*557-16G=) c.64-16G= (n.64-16G=) n.354-16G= c.382-16G= (n.382-16G=) | |
11 | g.68036447C= | CA1980452116 | NDUFS8 | c.502-15C= (n.502-15C=) c.434-15C= c.*557-15C= (n.*557-15C=) c.64-15C= (n.64-15C=) n.354-15C= c.382-15C= (n.382-15C=) | |
11 | g.68036447C>T | CA600238527 | NDUFS8 | c.502-15C>T (n.502-15C>T) c.434-15C>T c.*557-15C>T (n.*557-15C>T) c.64-15C>T (n.64-15C>T) n.354-15C>T c.382-15C>T (n.382-15C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68036449C= | CA1980452119 | NDUFS8 | c.502-13C= (n.502-13C=) c.434-13C= c.*557-13C= (n.*557-13C=) c.64-13C= (n.64-13C=) n.354-13C= c.382-13C= (n.382-13C=) | |
11 | g.68036449C>T | CA6146555 | NDUFS8 | c.502-13C>T (n.502-13C>T) c.434-13C>T c.*557-13C>T (n.*557-13C>T) c.64-13C>T (n.64-13C>T) n.354-13C>T c.382-13C>T (n.382-13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68036450C= | CA1980452123 | NDUFS8 | c.502-12C= (n.502-12C=) c.434-12C= c.*557-12C= (n.*557-12C=) c.64-12C= (n.64-12C=) n.354-12C= c.382-12C= (n.382-12C=) | |
11 | g.68036450C>T | CA6146556 | NDUFS8 | c.502-12C>T (n.502-12C>T) c.434-12C>T c.*557-12C>T (n.*557-12C>T) c.64-12C>T (n.64-12C>T) n.354-12C>T c.382-12C>T (n.382-12C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68036451T>G | CA2739270580 | NDUFS8 | c.502-11T>G (n.502-11T>G) c.434-11T>G c.*557-11T>G (n.*557-11T>G) c.64-11T>G (n.64-11T>G) n.354-11T>G c.382-11T>G (n.382-11T>G) | ClinVar |
11 | g.68036452C= | CA1980452128 | NDUFS8 | c.502-10C= (n.502-10C=) c.434-10C= c.*557-10C= (n.*557-10C=) c.64-10C= (n.64-10C=) n.354-10C= c.382-10C= (n.382-10C=) | |
11 | g.68036452C>T | CA6146557 | NDUFS8 | c.502-10C>T (n.502-10C>T) c.434-10C>T c.*557-10C>T (n.*557-10C>T) c.64-10C>T (n.64-10C>T) n.354-10C>T c.382-10C>T (n.382-10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68036455C= | CA1980452133 | NDUFS8 | c.502-7C= (n.502-7C=) c.434-7C= c.*557-7C= (n.*557-7C=) c.64-7C= (n.64-7C=) n.354-7C= c.382-7C= (n.382-7C=) | |
11 | g.68036455C>G | CA2570607553 | NDUFS8 | c.502-7C>G (n.502-7C>G) c.434-7C>G c.*557-7C>G (n.*557-7C>G) c.64-7C>G (n.64-7C>G) n.354-7C>G c.382-7C>G (n.382-7C>G) | gnomAD v4 |
11 | g.68036455C>T | CA1980452134 | NDUFS8 | c.502-7C>T (n.502-7C>T) c.434-7C>T c.*557-7C>T (n.*557-7C>T) c.64-7C>T (n.64-7C>T) n.354-7C>T c.382-7C>T (n.382-7C>T) | dbSNP |
11 | g.68036456C>A | CA224195062 | NDUFS8 | c.502-6C>A (n.502-6C>A) c.434-6C>A c.*557-6C>A (n.*557-6C>A) c.64-6C>A (n.64-6C>A) n.354-6C>A c.382-6C>A (n.382-6C>A) | dbSNP |
11 | g.68036456C= | CA1980452136 | NDUFS8 | c.502-6C= (n.502-6C=) c.434-6C= c.*557-6C= (n.*557-6C=) c.64-6C= (n.64-6C=) n.354-6C= c.382-6C= (n.382-6C=) | |
11 | g.68036458G>A | CA600238542 | NDUFS8 | c.502-4G>A (n.502-4G>A) c.434-4G>A c.*557-4G>A (n.*557-4G>A) c.64-4G>A (n.64-4G>A) n.354-4G>A c.382-4G>A (n.382-4G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68036458G= | CA1980452138 | NDUFS8 | c.502-4G= (n.502-4G=) c.434-4G= c.*557-4G= (n.*557-4G=) c.64-4G= (n.64-4G=) n.354-4G= c.382-4G= (n.382-4G=) | |
11 | g.68036459C>G | CA2792527956 | NDUFS8 | c.502-3C>G (n.502-3C>G) c.434-3C>G c.*557-3C>G (n.*557-3C>G) c.64-3C>G (n.64-3C>G) n.354-3C>G c.382-3C>G (n.382-3C>G) | |
11 | g.68036459C>T | CA2582341878 | NDUFS8 | c.502-3C>T (n.502-3C>T) c.434-3C>T c.*557-3C>T (n.*557-3C>T) c.64-3C>T (n.64-3C>T) n.354-3C>T c.382-3C>T (n.382-3C>T) | ClinVar |
11 | g.68036460A>C | CA381569510 | NDUFS8 | c.502-2A>C (n.502-2A>C) c.434-2A>C c.*557-2A>C (n.*557-2A>C) c.64-2A>C (n.64-2A>C) n.354-2A>C c.382-2A>C (n.382-2A>C) | |
11 | g.68036460A>G | CA381569512 | NDUFS8 | c.502-2A>G (n.502-2A>G) c.434-2A>G c.*557-2A>G (n.*557-2A>G) c.64-2A>G (n.64-2A>G) n.354-2A>G c.382-2A>G (n.382-2A>G) | |
11 | g.68036460A>T | CA381569513 | NDUFS8 | c.502-2A>T (n.502-2A>T) c.434-2A>T c.*557-2A>T (n.*557-2A>T) c.64-2A>T (n.64-2A>T) n.354-2A>T c.382-2A>T (n.382-2A>T) | |
11 | g.68036461G>A | CA381569515 | NDUFS8 | c.502-1G>A (n.502-1G>A) c.434-1G>A c.*557-1G>A (n.*557-1G>A) c.64-1G>A (n.64-1G>A) n.354-1G>A c.382-1G>A (n.382-1G>A) | dbSNP gnomAD v2 |
11 | g.68036461G>C | CA381569516 | NDUFS8 | c.502-1G>C (n.502-1G>C) c.434-1G>C c.*557-1G>C (n.*557-1G>C) c.64-1G>C (n.64-1G>C) n.354-1G>C c.382-1G>C (n.382-1G>C) | |
11 | g.68036461G= | CA1980452141 | NDUFS8 | c.502-1G= (n.502-1G=) c.434-1G= c.*557-1G= (n.*557-1G=) c.64-1G= (n.64-1G=) n.354-1G= c.382-1G= (n.382-1G=) | |
11 | g.68036461G>T | CA381569518 | NDUFS8 | c.502-1G>T (n.502-1G>T) c.434-1G>T c.*557-1G>T (n.*557-1G>T) c.64-1G>T (n.64-1G>T) n.354-1G>T c.382-1G>T (n.382-1G>T) | |
11 | g.68036462G>A | CA6146559 | NDUFS8 | c.502G>A (p.Gly168Ser) c.434G>A c.*557G>A (n.*557G>A) c.64G>A (p.Gly22Ser) n.354G>A c.382G>A (p.Gly128Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68036462G>C | CA381569521 | NDUFS8 | c.502G>C (p.Gly168Arg) c.434G>C c.*557G>C (n.*557G>C) c.64G>C (p.Gly22Arg) n.354G>C c.382G>C (p.Gly128Arg) | |
11 | g.68036462G= | CA1980452146 | NDUFS8 | c.502G= (p.Gly168=) c.434G= c.*557G= (n.*557G=) c.64G= (p.Gly22=) n.354G= c.382G= (p.Gly128=) | |
11 | g.68036462G>T | CA6146558 | NDUFS8 | c.502G>T (p.Gly168Cys) c.434G>T c.*557G>T (n.*557G>T) c.64G>T (p.Gly22Cys) n.354G>T c.382G>T (p.Gly128Cys) | dbSNP ExAC |
11 | g.68036463G>A | CA381569523 | NDUFS8 | c.503G>A (p.Gly168Asp) c.435G>A c.*558G>A (n.*558G>A) c.65G>A (p.Gly22Asp) n.355G>A c.383G>A (p.Gly128Asp) | |
11 | g.68036463G>C | CA381569525 | NDUFS8 | c.503G>C (p.Gly168Ala) c.435G>C c.*558G>C (n.*558G>C) c.65G>C (p.Gly22Ala) n.355G>C c.383G>C (p.Gly128Ala) | gnomAD v4 |
11 | g.68036463G>T | CA381569527 | NDUFS8 | c.503G>T (p.Gly168Val) c.435G>T c.*558G>T (n.*558G>T) c.65G>T (p.Gly22Val) n.355G>T c.383G>T (p.Gly128Val) | |
11 | g.68036464C>A | CA475442601 | NDUFS8 | c.504C>A (p.Gly168=) c.436C>A c.*559C>A (n.*559C>A) c.66C>A (p.Gly22=) n.356C>A c.384C>A (p.Gly128=) | |
11 | g.68036464C>G | CA475442604 | NDUFS8 | c.504C>G (p.Gly168=) c.436C>G c.*559C>G (n.*559C>G) c.66C>G (p.Gly22=) n.356C>G c.384C>G (p.Gly128=) | |
11 | g.68036464C>T | CA475442603 | NDUFS8 | c.504C>T (p.Gly168=) c.436C>T c.*559C>T (n.*559C>T) c.66C>T (p.Gly22=) n.356C>T c.384C>T (p.Gly128=) | |
11 | g.68036465C>A | CA381569529 | NDUFS8 | c.505C>A (p.Pro169Thr) c.437C>A c.*560C>A (n.*560C>A) c.67C>A (p.Pro23Thr) n.357C>A c.385C>A (p.Pro129Thr) | |
11 | g.68036465C= | CA1980452149 | NDUFS8 | c.505C= (p.Pro169=) c.437C= c.*560C= (n.*560C=) c.67C= (p.Pro23=) n.357C= c.385C= (p.Pro129=) | |
11 | g.68036465C>G | CA381569532 | NDUFS8 | c.505C>G (p.Pro169Ala) c.437C>G c.*560C>G (n.*560C>G) c.67C>G (p.Pro23Ala) n.357C>G c.385C>G (p.Pro129Ala) | |
11 | g.68036465C>T | CA381569534 | NDUFS8 | c.505C>T (p.Pro169Ser) c.437C>T c.*560C>T (n.*560C>T) c.67C>T (p.Pro23Ser) n.357C>T c.385C>T (p.Pro129Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68036466C>A | CA381569537 | NDUFS8 | c.506C>A (p.Pro169His) c.438C>A c.*561C>A (n.*561C>A) c.68C>A (p.Pro23His) n.358C>A c.386C>A (p.Pro129His) | |
11 | g.68036466C>G | CA381569539 | NDUFS8 | c.506C>G (p.Pro169Arg) c.438C>G c.*561C>G (n.*561C>G) c.68C>G (p.Pro23Arg) n.358C>G c.386C>G (p.Pro129Arg) | |
11 | g.68036466C>T | CA381569540 | NDUFS8 | c.506C>T (p.Pro169Leu) c.438C>T c.*561C>T (n.*561C>T) c.68C>T (p.Pro23Leu) n.358C>T c.386C>T (p.Pro129Leu) | |
11 | g.68036467C>A | CA475442615 | NDUFS8 | c.507C>A (p.Pro169=) c.439C>A c.*562C>A (n.*562C>A) c.69C>A (p.Pro23=) n.359C>A c.387C>A (p.Pro129=) | |
11 | g.68036467C>G | CA475442616 | NDUFS8 | c.507C>G (p.Pro169=) c.439C>G c.*562C>G (n.*562C>G) c.69C>G (p.Pro23=) n.359C>G c.387C>G (p.Pro129=) | |
11 | g.68036467C>T | CA475442619 | NDUFS8 | c.507C>T (p.Pro169=) c.439C>T c.*562C>T (n.*562C>T) c.69C>T (p.Pro23=) n.359C>T c.387C>T (p.Pro129=) | |
11 | g.68036468A= | CA1980452154 | NDUFS8 | c.508A= (p.Asn170=) c.440A= c.*563A= (n.*563A=) c.70A= (p.Asn24=) n.360A= c.388A= (p.Asn130=) | |
11 | g.68036468A>C | CA381569541 | NDUFS8 | c.508A>C (p.Asn170His) c.440A>C c.*563A>C (n.*563A>C) c.70A>C (p.Asn24His) n.360A>C c.388A>C (p.Asn130His) | dbSNP |
11 | g.68036468A>G | CA381569542 | NDUFS8 | c.508A>G (p.Asn170Asp) c.440A>G c.*563A>G (n.*563A>G) c.70A>G (p.Asn24Asp) n.360A>G c.388A>G (p.Asn130Asp) | |
11 | g.68036468A>T | CA381569544 | NDUFS8 | c.508A>T (p.Asn170Tyr) c.440A>T c.*563A>T (n.*563A>T) c.70A>T (p.Asn24Tyr) n.360A>T c.388A>T (p.Asn130Tyr) | |
11 | g.68036469A= | CA1980452157 | NDUFS8 | c.509A= (p.Asn170=) c.441A= c.*564A= (n.*564A=) c.71A= (p.Asn24=) n.361A= c.389A= (p.Asn130=) | |
11 | g.68036469A>C | CA381569549 | NDUFS8 | c.509A>C (p.Asn170Thr) c.441A>C c.*564A>C (n.*564A>C) c.71A>C (p.Asn24Thr) n.361A>C c.389A>C (p.Asn130Thr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68036469A>G | CA381569546 | NDUFS8 | c.509A>G (p.Asn170Ser) c.441A>G c.*564A>G (n.*564A>G) c.71A>G (p.Asn24Ser) n.361A>G c.389A>G (p.Asn130Ser) | |
11 | g.68036469A>T | CA381569548 | NDUFS8 | c.509A>T (p.Asn170Ile) c.441A>T c.*564A>T (n.*564A>T) c.71A>T (p.Asn24Ile) n.361A>T c.389A>T (p.Asn130Ile) | |
11 | g.68036470C>A | CA381569550 | NDUFS8 | c.510C>A (p.Asn170Lys) c.442C>A c.*565C>A (n.*565C>A) c.72C>A (p.Asn24Lys) n.362C>A c.390C>A (p.Asn130Lys) | |
11 | g.68036470C= | CA1980452159 | NDUFS8 | c.510C= (p.Asn170=) c.442C= c.*565C= (n.*565C=) c.72C= (p.Asn24=) n.362C= c.390C= (p.Asn130=) | |
11 | g.68036470C>G | CA381569552 | NDUFS8 | c.510C>G (p.Asn170Lys) c.442C>G c.*565C>G (n.*565C>G) c.72C>G (p.Asn24Lys) n.362C>G c.390C>G (p.Asn130Lys) | |
11 | g.68036470C>T | CA224195071 | NDUFS8 | c.510C>T (p.Asn170=) c.442C>T c.*565C>T (n.*565C>T) c.72C>T (p.Asn24=) n.362C>T c.390C>T (p.Asn130=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68036471T>A | CA381569555 | NDUFS8 | c.511T>A (p.Phe171Ile) c.443T>A c.*566T>A (n.*566T>A) c.73T>A (p.Phe25Ile) n.363T>A c.391T>A (p.Phe131Ile) | |
11 | g.68036471T>C | CA381569557 | NDUFS8 | c.511T>C (p.Phe171Leu) c.443T>C c.*566T>C (n.*566T>C) c.73T>C (p.Phe25Leu) n.363T>C c.391T>C (p.Phe131Leu) | |
11 | g.68036471T>G | CA381569559 | NDUFS8 | c.511T>G (p.Phe171Val) c.443T>G c.*566T>G (n.*566T>G) c.73T>G (p.Phe25Val) n.363T>G c.391T>G (p.Phe131Val) | |
11 | g.68036473dup | CA6146560 | NDUFS8 | c.513dup (p.Glu172Ter) c.445dup c.*568dup (n.*568dup) c.75dup (p.Glu26Ter) n.365dup c.393dup (p.Glu132Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68036472T>A | CA381569561 | NDUFS8 | c.512T>A (p.Phe171Tyr) c.444T>A c.*567T>A (n.*567T>A) c.74T>A (p.Phe25Tyr) n.364T>A c.392T>A (p.Phe131Tyr) | |
11 | g.68036472T>C | CA381569562 | NDUFS8 | c.512T>C (p.Phe171Ser) c.444T>C c.*567T>C (n.*567T>C) c.74T>C (p.Phe25Ser) n.364T>C c.392T>C (p.Phe131Ser) | |
11 | g.68036472T>G | CA381569564 | NDUFS8 | c.512T>G (p.Phe171Cys) c.444T>G c.*567T>G (n.*567T>G) c.74T>G (p.Phe25Cys) n.364T>G c.392T>G (p.Phe131Cys) | |
11 | g.68036473T>A | CA381569566 | NDUFS8 | c.513T>A (p.Phe171Leu) c.445T>A c.*568T>A (n.*568T>A) c.75T>A (p.Phe25Leu) n.365T>A c.393T>A (p.Phe131Leu) | |
11 | g.68036473T>C | CA475442646 | NDUFS8 | c.513T>C (p.Phe171=) c.445T>C c.*568T>C (n.*568T>C) c.75T>C (p.Phe25=) n.365T>C c.393T>C (p.Phe131=) | |
11 | g.68036473T>G | CA381569568 | NDUFS8 | c.513T>G (p.Phe171Leu) c.445T>G c.*568T>G (n.*568T>G) c.75T>G (p.Phe25Leu) n.365T>G c.393T>G (p.Phe131Leu) | COSMIC |
11 | g.68036474G>A | CA381569572 | NDUFS8 | c.514G>A (p.Glu172Lys) c.446G>A c.*569G>A (n.*569G>A) c.76G>A (p.Glu26Lys) n.366G>A c.394G>A (p.Glu132Lys) | |
11 | g.68036474G>C | CA381569571 | NDUFS8 | c.514G>C (p.Glu172Gln) c.446G>C c.*569G>C (n.*569G>C) c.76G>C (p.Glu26Gln) n.366G>C c.394G>C (p.Glu132Gln) | |
11 | g.68036474G>T | CA381569569 | NDUFS8 | c.514G>T (p.Glu172Ter) c.446G>T c.*569G>T (n.*569G>T) c.76G>T (p.Glu26Ter) n.366G>T c.394G>T (p.Glu132Ter) | |
11 | g.68036475A>C | CA381569574 | NDUFS8 | c.515A>C (p.Glu172Ala) c.447A>C c.*570A>C (n.*570A>C) c.77A>C (p.Glu26Ala) n.367A>C c.395A>C (p.Glu132Ala) | |
11 | g.68036475A>G | CA381569577 | NDUFS8 | c.515A>G (p.Glu172Gly) c.447A>G c.*570A>G (n.*570A>G) c.77A>G (p.Glu26Gly) n.367A>G c.395A>G (p.Glu132Gly) | |
11 | g.68036475A>T | CA381569576 | NDUFS8 | c.515A>T (p.Glu172Val) c.447A>T c.*570A>T (n.*570A>T) c.77A>T (p.Glu26Val) n.367A>T c.395A>T (p.Glu132Val) | |
11 | g.68036476G>A | CA475442664 | NDUFS8 | c.516G>A (p.Glu172=) c.448G>A c.*571G>A (n.*571G>A) c.78G>A (p.Glu26=) n.368G>A c.396G>A (p.Glu132=) | |
11 | g.68036476G>C | CA381569579 | NDUFS8 | c.516G>C (p.Glu172Asp) c.448G>C c.*571G>C (n.*571G>C) c.78G>C (p.Glu26Asp) n.368G>C c.396G>C (p.Glu132Asp) | |
11 | g.68036476G>T | CA381569581 | NDUFS8 | c.516G>T (p.Glu172Asp) c.448G>T c.*571G>T (n.*571G>T) c.78G>T (p.Glu26Asp) n.368G>T c.396G>T (p.Glu132Asp) | |
11 | g.68036477T>A | CA381569583 | NDUFS8 | c.517T>A (p.Phe173Ile) c.449T>A c.*572T>A (n.*572T>A) c.79T>A (p.Phe27Ile) n.369T>A c.397T>A (p.Phe133Ile) | |
11 | g.68036477T>C | CA381569585 | NDUFS8 | c.517T>C (p.Phe173Leu) c.449T>C c.*572T>C (n.*572T>C) c.79T>C (p.Phe27Leu) n.369T>C c.397T>C (p.Phe133Leu) | |
11 | g.68036477T>G | CA381569587 | NDUFS8 | c.517T>G (p.Phe173Val) c.449T>G c.*572T>G (n.*572T>G) c.79T>G (p.Phe27Val) n.369T>G c.397T>G (p.Phe133Val) | |
11 | g.68036478T>A | CA381569590 | NDUFS8 | c.518T>A (p.Phe173Tyr) c.450T>A c.*573T>A (n.*573T>A) c.80T>A (p.Phe27Tyr) n.370T>A c.398T>A (p.Phe133Tyr) | |
11 | g.68036478T>C | CA381569596 | NDUFS8 | c.518T>C (p.Phe173Ser) c.450T>C c.*573T>C (n.*573T>C) c.80T>C (p.Phe27Ser) n.370T>C c.398T>C (p.Phe133Ser) | |
11 | g.68036478T>G | CA381569599 | NDUFS8 | c.518T>G (p.Phe173Cys) c.450T>G c.*573T>G (n.*573T>G) c.80T>G (p.Phe27Cys) n.370T>G c.398T>G (p.Phe133Cys) | |
11 | g.68036479C>A | CA381569617 | NDUFS8 | c.519C>A (p.Phe173Leu) c.451C>A c.*574C>A (n.*574C>A) c.81C>A (p.Phe27Leu) n.371C>A c.399C>A (p.Phe133Leu) | dbSNP gnomAD v4 |
11 | g.68036479C= | CA1980452167 | NDUFS8 | c.519C= (p.Phe173=) c.451C= c.*574C= (n.*574C=) c.81C= (p.Phe27=) n.371C= c.399C= (p.Phe133=) | |
11 | g.68036479C>G | CA6146561 | NDUFS8 | c.519C>G (p.Phe173Leu) c.451C>G c.*574C>G (n.*574C>G) c.81C>G (p.Phe27Leu) n.371C>G c.399C>G (p.Phe133Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68036479C>T | CA475442682 | NDUFS8 | c.519C>T (p.Phe173=) c.451C>T c.*574C>T (n.*574C>T) c.81C>T (p.Phe27=) n.371C>T c.399C>T (p.Phe133=) | gnomAD v4 |
11 | g.68036480del | CA2614692592 | NDUFS8 | c.520del (p.Ser174ProfsTer?) c.452del c.*575del (n.*575del) c.82del (p.Ser28ProfsTer?) n.372del c.400del (p.Ser134ProfsTer?) | gnomAD v4 |
11 | g.68036480T>A | CA381569627 | NDUFS8 | c.520T>A (p.Ser174Thr) c.452T>A c.*575T>A (n.*575T>A) c.82T>A (p.Ser28Thr) n.372T>A c.400T>A (p.Ser134Thr) | |
11 | g.68036480T>C | CA381569630 | NDUFS8 | c.520T>C (p.Ser174Pro) c.452T>C c.*575T>C (n.*575T>C) c.82T>C (p.Ser28Pro) n.372T>C c.400T>C (p.Ser134Pro) | |
11 | g.68036480T>G | CA381569633 | NDUFS8 | c.520T>G (p.Ser174Ala) c.452T>G c.*575T>G (n.*575T>G) c.82T>G (p.Ser28Ala) n.372T>G c.400T>G (p.Ser134Ala) | |
11 | g.68036481C>A | CA381569641 | NDUFS8 | c.521C>A (p.Ser174Tyr) c.453C>A c.*576C>A (n.*576C>A) c.83C>A (p.Ser28Tyr) n.373C>A c.401C>A (p.Ser134Tyr) | |
11 | g.68036481C= | CA1980452170 | NDUFS8 | c.521C= (p.Ser174=) c.453C= c.*576C= (n.*576C=) c.83C= (p.Ser28=) n.373C= c.401C= (p.Ser134=) | |
11 | g.68036481C>G | CA381569638 | NDUFS8 | c.521C>G (p.Ser174Cys) c.453C>G c.*576C>G (n.*576C>G) c.83C>G (p.Ser28Cys) n.373C>G c.401C>G (p.Ser134Cys) | |
11 | g.68036481C>T | CA381569636 | NDUFS8 | c.521C>T (p.Ser174Phe) c.453C>T c.*576C>T (n.*576C>T) c.83C>T (p.Ser28Phe) n.373C>T c.401C>T (p.Ser134Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68036482C>A | CA475442691 | NDUFS8 | c.522C>A (p.Ser174=) c.454C>A c.*577C>A (n.*577C>A) c.84C>A (p.Ser28=) n.374C>A c.402C>A (p.Ser134=) | |
11 | g.68036482C>G | CA475442693 | NDUFS8 | c.522C>G (p.Ser174=) c.454C>G c.*577C>G (n.*577C>G) c.84C>G (p.Ser28=) n.374C>G c.402C>G (p.Ser134=) | |
11 | g.68036482C>T | CA475442694 | NDUFS8 | c.522C>T (p.Ser174=) c.454C>T c.*577C>T (n.*577C>T) c.84C>T (p.Ser28=) n.374C>T c.402C>T (p.Ser134=) | |
11 | g.68036483A>C | CA381569645 | NDUFS8 | c.523A>C (p.Thr175Pro) c.455A>C c.*578A>C (n.*578A>C) c.85A>C (p.Thr29Pro) n.375A>C c.403A>C (p.Thr135Pro) | |
11 | g.68036483A>G | CA381569647 | NDUFS8 | c.523A>G (p.Thr175Ala) c.455A>G c.*578A>G (n.*578A>G) c.85A>G (p.Thr29Ala) n.375A>G c.403A>G (p.Thr135Ala) | |
11 | g.68036483A>T | CA381569649 | NDUFS8 | c.523A>T (p.Thr175Ser) c.455A>T c.*578A>T (n.*578A>T) c.85A>T (p.Thr29Ser) n.375A>T c.403A>T (p.Thr135Ser) | |
11 | g.68036483_68036484insTG | CA2614692598 | NDUFS8 | c.523_524insTG (p.Thr175MetfsTer?) c.455_456insTG c.*578_*579insTG (n.*578_*579insTG) c.85_86insTG (p.Thr29MetfsTer?) n.375_376insTG c.403_404insTG (p.Thr135MetfsTer?) | gnomAD v4 |
11 | g.68036484C>A | CA381569651 | NDUFS8 | c.524C>A (p.Thr175Lys) c.456C>A c.*579C>A (n.*579C>A) c.86C>A (p.Thr29Lys) n.376C>A c.404C>A (p.Thr135Lys) | gnomAD v4 |
11 | g.68036484C= | CA1980452173 | NDUFS8 | c.524C= (p.Thr175=) c.456C= c.*579C= (n.*579C=) c.86C= (p.Thr29=) n.376C= c.404C= (p.Thr135=) | |
11 | g.68036484C>G | CA381569655 | NDUFS8 | c.524C>G (p.Thr175Arg) c.456C>G c.*579C>G (n.*579C>G) c.86C>G (p.Thr29Arg) n.376C>G c.404C>G (p.Thr135Arg) | |
11 | g.68036484C>T | CA381569658 | NDUFS8 | c.524C>T (p.Thr175Met) c.456C>T c.*579C>T (n.*579C>T) c.86C>T (p.Thr29Met) n.376C>T c.404C>T (p.Thr135Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68036485G>A | CA475442705 | NDUFS8 | c.525G>A (p.Thr175=) c.457G>A c.*580G>A (n.*580G>A) c.87G>A (p.Thr29=) n.377G>A c.405G>A (p.Thr135=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68036485G>C | CA475442710 | NDUFS8 | c.525G>C (p.Thr175=) c.457G>C c.*580G>C (n.*580G>C) c.87G>C (p.Thr29=) n.377G>C c.405G>C (p.Thr135=) | dbSNP |
11 | g.68036485G= | CA1980452175 | NDUFS8 | c.525G= (p.Thr175=) c.457G= c.*580G= (n.*580G=) c.87G= (p.Thr29=) n.377G= c.405G= (p.Thr135=) | |
11 | g.68036485G>T | CA475442708 | NDUFS8 | c.525G>T (p.Thr175=) c.457G>T c.*580G>T (n.*580G>T) c.87G>T (p.Thr29=) n.377G>T c.405G>T (p.Thr135=) | |
11 | g.68036486G>A | CA381569661 | NDUFS8 | c.526G>A (p.Glu176Lys) c.458G>A c.*581G>A (n.*581G>A) c.88G>A (p.Glu30Lys) n.378G>A c.406G>A (p.Glu136Lys) | dbSNP |
11 | g.68036486G>C | CA381569663 | NDUFS8 | c.526G>C (p.Glu176Gln) c.458G>C c.*581G>C (n.*581G>C) c.88G>C (p.Glu30Gln) n.378G>C c.406G>C (p.Glu136Gln) | |
11 | g.68036486G= | CA1980452177 | NDUFS8 | c.526G= (p.Glu176=) c.458G= c.*581G= (n.*581G=) c.88G= (p.Glu30=) n.378G= c.406G= (p.Glu136=) | |
11 | g.68036486G>T | CA381569666 | NDUFS8 | c.526G>T (p.Glu176Ter) c.458G>T c.*581G>T (n.*581G>T) c.88G>T (p.Glu30Ter) n.378G>T c.406G>T (p.Glu136Ter) | |
11 | g.68036487A= | CA1980452178 | NDUFS8 | c.527A= (p.Glu176=) c.459A= c.*582A= (n.*582A=) c.89A= (p.Glu30=) n.379A= c.407A= (p.Glu136=) | |
11 | g.68036487A>C | CA381569669 | NDUFS8 | c.527A>C (p.Glu176Ala) c.459A>C c.*582A>C (n.*582A>C) c.89A>C (p.Glu30Ala) n.379A>C c.407A>C (p.Glu136Ala) | |
11 | g.68036487A>G | CA381569671 | NDUFS8 | c.527A>G (p.Glu176Gly) c.459A>G c.*582A>G (n.*582A>G) c.89A>G (p.Glu30Gly) n.379A>G c.407A>G (p.Glu136Gly) | |
11 | g.68036487A>T | CA381569673 | NDUFS8 | c.527A>T (p.Glu176Val) c.459A>T c.*582A>T (n.*582A>T) c.89A>T (p.Glu30Val) n.379A>T c.407A>T (p.Glu136Val) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68036488G>A | CA475442724 | NDUFS8 | c.528G>A (p.Glu176=) c.460G>A c.*583G>A (n.*583G>A) c.90G>A (p.Glu30=) n.380G>A c.408G>A (p.Glu136=) | gnomAD v4 |
11 | g.68036488G>C | CA381569680 | NDUFS8 | c.528G>C (p.Glu176Asp) c.460G>C c.*583G>C (n.*583G>C) c.90G>C (p.Glu30Asp) n.380G>C c.408G>C (p.Glu136Asp) | gnomAD v4 |
11 | g.68036488G>T | CA381569678 | NDUFS8 | c.528G>T (p.Glu176Asp) c.460G>T c.*583G>T (n.*583G>T) c.90G>T (p.Glu30Asp) n.380G>T c.408G>T (p.Glu136Asp) | gnomAD v4 |
11 | g.68036489A>C | CA381569684 | NDUFS8 | c.529A>C (p.Thr177Pro) c.461A>C c.*584A>C (n.*584A>C) c.91A>C (p.Thr31Pro) n.381A>C c.409A>C (p.Thr137Pro) | |
11 | g.68036489A>G | CA381569686 | NDUFS8 | c.529A>G (p.Thr177Ala) c.461A>G c.*584A>G (n.*584A>G) c.91A>G (p.Thr31Ala) n.381A>G c.409A>G (p.Thr137Ala) | gnomAD v4 |
11 | g.68036489A>T | CA381569688 | NDUFS8 | c.529A>T (p.Thr177Ser) c.461A>T c.*584A>T (n.*584A>T) c.91A>T (p.Thr31Ser) n.381A>T c.409A>T (p.Thr137Ser) | |
11 | g.68036490C>A | CA381569692 | NDUFS8 | c.530C>A (p.Thr177Asn) c.462C>A c.*585C>A (n.*585C>A) c.92C>A (p.Thr31Asn) n.382C>A c.410C>A (p.Thr137Asn) | |
11 | g.68036490C>G | CA381569695 | NDUFS8 | c.530C>G (p.Thr177Ser) c.462C>G c.*585C>G (n.*585C>G) c.92C>G (p.Thr31Ser) n.382C>G c.410C>G (p.Thr137Ser) | |
11 | g.68036490C>T | CA381569700 | NDUFS8 | c.530C>T (p.Thr177Ile) c.462C>T c.*585C>T (n.*585C>T) c.92C>T (p.Thr31Ile) n.382C>T c.410C>T (p.Thr137Ile) | |
11 | g.68036491C>A | CA475442740 | NDUFS8 | c.531C>A (p.Thr177=) c.463C>A c.*586C>A (n.*586C>A) c.93C>A (p.Thr31=) n.383C>A c.411C>A (p.Thr137=) | |
11 | g.68036491C= | CA1980452181 | NDUFS8 | c.531C= (p.Thr177=) c.463C= c.*586C= (n.*586C=) c.93C= (p.Thr31=) n.383C= c.411C= (p.Thr137=) | |
11 | g.68036491C>G | CA475442738 | NDUFS8 | c.531C>G (p.Thr177=) c.463C>G c.*586C>G (n.*586C>G) c.93C>G (p.Thr31=) n.383C>G c.411C>G (p.Thr137=) | dbSNP |
11 | g.68036491C>T | CA475442737 | NDUFS8 | c.531C>T (p.Thr177=) c.463C>T c.*586C>T (n.*586C>T) c.93C>T (p.Thr31=) n.383C>T c.411C>T (p.Thr137=) | dbSNP gnomAD v4 |
11 | g.68036492C>A | CA381569709 | NDUFS8 | c.532C>A (p.His178Asn) c.464C>A c.*587C>A (n.*587C>A) c.94C>A (p.His32Asn) n.384C>A c.412C>A (p.His138Asn) | |
11 | g.68036492C>G | CA381569705 | NDUFS8 | c.532C>G (p.His178Asp) c.464C>G c.*587C>G (n.*587C>G) c.94C>G (p.His32Asp) n.384C>G c.412C>G (p.His138Asp) | |
11 | g.68036492C>T | CA381569707 | NDUFS8 | c.532C>T (p.His178Tyr) c.464C>T c.*587C>T (n.*587C>T) c.94C>T (p.His32Tyr) n.384C>T c.412C>T (p.His138Tyr) | |
11 | g.68036493A>C | CA381569713 | NDUFS8 | c.533A>C (p.His178Pro) c.465A>C c.*588A>C (n.*588A>C) c.95A>C (p.His32Pro) n.385A>C c.413A>C (p.His138Pro) | |
11 | g.68036493A>G | CA381569715 | NDUFS8 | c.533A>G (p.His178Arg) c.465A>G c.*588A>G (n.*588A>G) c.95A>G (p.His32Arg) n.385A>G c.413A>G (p.His138Arg) | |
11 | g.68036493A>T | CA381569716 | NDUFS8 | c.533A>T (p.His178Leu) c.465A>T c.*588A>T (n.*588A>T) c.95A>T (p.His32Leu) n.385A>T c.413A>T (p.His138Leu) | |
11 | g.68036494T>A | CA381569718 | NDUFS8 | c.534T>A (p.His178Gln) c.466T>A c.*589T>A (n.*589T>A) c.96T>A (p.His32Gln) n.386T>A c.414T>A (p.His138Gln) | gnomAD v4 |
11 | g.68036494T>C | CA475442748 | NDUFS8 | c.534T>C (p.His178=) c.466T>C c.*589T>C (n.*589T>C) c.96T>C (p.His32=) n.386T>C c.414T>C (p.His138=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68036494T>G | CA381569720 | NDUFS8 | c.534T>G (p.His178Gln) c.466T>G c.*589T>G (n.*589T>G) c.96T>G (p.His32Gln) n.386T>G c.414T>G (p.His138Gln) | |
11 | g.68036494T= | CA1980452183 | NDUFS8 | c.534T= (p.His178=) c.466T= c.*589T= (n.*589T=) c.96T= (p.His32=) n.386T= c.414T= (p.His138=) | |
11 | g.68036495G>A | CA6146562 | NDUFS8 | c.535G>A (p.Glu179Lys) c.467G>A c.*590G>A (n.*590G>A) c.97G>A (p.Glu33Lys) n.387G>A c.415G>A (p.Glu139Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68036495G>C | CA381569727 | NDUFS8 | c.535G>C (p.Glu179Gln) c.467G>C c.*590G>C (n.*590G>C) c.97G>C (p.Glu33Gln) n.387G>C c.415G>C (p.Glu139Gln) | |
11 | g.68036495G= | CA1980452185 | NDUFS8 | c.535G= (p.Glu179=) c.467G= c.*590G= (n.*590G=) c.97G= (p.Glu33=) n.387G= c.415G= (p.Glu139=) | |
11 | g.68036495G>T | CA381569725 | NDUFS8 | c.535G>T (p.Glu179Ter) c.467G>T c.*590G>T (n.*590G>T) c.97G>T (p.Glu33Ter) n.387G>T c.415G>T (p.Glu139Ter) | |
11 | g.68036496A>C | CA381569731 | NDUFS8 | c.536A>C (p.Glu179Ala) c.468A>C c.*591A>C (n.*591A>C) c.98A>C (p.Glu33Ala) n.388A>C c.416A>C (p.Glu139Ala) | |
11 | g.68036496A>G | CA381569733 | NDUFS8 | c.536A>G (p.Glu179Gly) c.468A>G c.*591A>G (n.*591A>G) c.98A>G (p.Glu33Gly) n.388A>G c.416A>G (p.Glu139Gly) | |
11 | g.68036496A>T | CA381569738 | NDUFS8 | c.536A>T (p.Glu179Val) c.468A>T c.*591A>T (n.*591A>T) c.98A>T (p.Glu33Val) n.388A>T c.416A>T (p.Glu139Val) | gnomAD v4 |
11 | g.68036497G>A | CA475442761 | NDUFS8 | c.537G>A (p.Glu179=) c.469G>A c.*592G>A (n.*592G>A) c.99G>A (p.Glu33=) n.389G>A c.417G>A (p.Glu139=) | |
11 | g.68036497G>C | CA381569740 | NDUFS8 | c.537G>C (p.Glu179Asp) c.469G>C c.*592G>C (n.*592G>C) c.99G>C (p.Glu33Asp) n.389G>C c.417G>C (p.Glu139Asp) | |
11 | g.68036497G>T | CA381569743 | NDUFS8 | c.537G>T (p.Glu179Asp) c.469G>T c.*592G>T (n.*592G>T) c.99G>T (p.Glu33Asp) n.389G>T c.417G>T (p.Glu139Asp) | |
11 | g.68036498G>A | CA381569747 | NDUFS8 | c.538G>A (p.Glu180Lys) c.470G>A c.*593G>A (n.*593G>A) c.100G>A (p.Glu34Lys) n.390G>A c.418G>A (p.Glu140Lys) | |
11 | g.68036498G>C | CA381569749 | NDUFS8 | c.538G>C (p.Glu180Gln) c.470G>C c.*593G>C (n.*593G>C) c.100G>C (p.Glu34Gln) n.390G>C c.418G>C (p.Glu140Gln) | |
11 | g.68036498G>T | CA381569750 | NDUFS8 | c.538G>T (p.Glu180Ter) c.470G>T c.*593G>T (n.*593G>T) c.100G>T (p.Glu34Ter) n.390G>T c.418G>T (p.Glu140Ter) | |
11 | g.68036499A= | CA1980452189 | NDUFS8 | c.539A= (p.Glu180=) c.471A= c.*594A= (n.*594A=) c.101A= (p.Glu34=) n.391A= c.419A= (p.Glu140=) | |
11 | g.68036499A>C | CA381569754 | NDUFS8 | c.539A>C (p.Glu180Ala) c.471A>C c.*594A>C (n.*594A>C) c.101A>C (p.Glu34Ala) n.391A>C c.419A>C (p.Glu140Ala) | |
11 | g.68036499A>G | CA224195086 | NDUFS8 | c.539A>G (p.Glu180Gly) c.471A>G c.*594A>G (n.*594A>G) c.101A>G (p.Glu34Gly) n.391A>G c.419A>G (p.Glu140Gly) | dbSNP |
11 | g.68036499A>T | CA381569757 | NDUFS8 | c.539A>T (p.Glu180Val) c.471A>T c.*594A>T (n.*594A>T) c.101A>T (p.Glu34Val) n.391A>T c.419A>T (p.Glu140Val) | |
11 | g.68036500G>A | CA475442773 | NDUFS8 | c.540G>A (p.Glu180=) c.472G>A c.*595G>A (n.*595G>A) c.102G>A (p.Glu34=) n.392G>A c.420G>A (p.Glu140=) | gnomAD v4 |
11 | g.68036500G>C | CA381569761 | NDUFS8 | c.540G>C (p.Glu180Asp) c.472G>C c.*595G>C (n.*595G>C) c.102G>C (p.Glu34Asp) n.392G>C c.420G>C (p.Glu140Asp) | gnomAD v4 |
11 | g.68036500G>T | CA381569762 | NDUFS8 | c.540G>T (p.Glu180Asp) c.472G>T c.*595G>T (n.*595G>T) c.102G>T (p.Glu34Asp) n.392G>T c.420G>T (p.Glu140Asp) | COSMIC |
11 | g.68036501C>A | CA381569765 | NDUFS8 | c.541C>A (p.Leu181Met) c.473C>A c.*596C>A (n.*596C>A) c.103C>A (p.Leu35Met) n.393C>A c.421C>A (p.Leu141Met) | COSMIC |
11 | g.68036501C= | CA1980452192 | NDUFS8 | c.541C= (p.Leu181=) c.473C= c.*596C= (n.*596C=) c.103C= (p.Leu35=) n.393C= c.421C= (p.Leu141=) | |
11 | g.68036501C>G | CA381569766 | NDUFS8 | c.541C>G (p.Leu181Val) c.473C>G c.*596C>G (n.*596C>G) c.103C>G (p.Leu35Val) n.393C>G c.421C>G (p.Leu141Val) | |
11 | g.68036501C>T | CA475442778 | NDUFS8 | c.541C>T (p.Leu181=) c.473C>T c.*596C>T (n.*596C>T) c.103C>T (p.Leu35=) n.393C>T c.421C>T (p.Leu141=) | dbSNP |
11 | g.68036502T>A | CA381569768 | NDUFS8 | c.542T>A (p.Leu181Gln) c.474T>A c.*597T>A (n.*597T>A) c.104T>A (p.Leu35Gln) n.394T>A c.422T>A (p.Leu141Gln) | |
11 | g.68036502T>C | CA381569770 | NDUFS8 | c.542T>C (p.Leu181Pro) c.474T>C c.*597T>C (n.*597T>C) c.104T>C (p.Leu35Pro) n.394T>C c.422T>C (p.Leu141Pro) | |
11 | g.68036502T>G | CA381569773 | NDUFS8 | c.542T>G (p.Leu181Arg) c.474T>G c.*597T>G (n.*597T>G) c.104T>G (p.Leu35Arg) n.394T>G c.422T>G (p.Leu141Arg) | |
11 | g.68036503G>A | CA475442785 | NDUFS8 | c.543G>A (p.Leu181=) c.475G>A c.*598G>A (n.*598G>A) c.105G>A (p.Leu35=) n.395G>A c.423G>A (p.Leu141=) | |
11 | g.68036503G>C | CA475442788 | NDUFS8 | c.543G>C (p.Leu181=) c.475G>C c.*598G>C (n.*598G>C) c.105G>C (p.Leu35=) n.395G>C c.423G>C (p.Leu141=) | gnomAD v4 |
11 | g.68036503G>T | CA475442790 | NDUFS8 | c.543G>T (p.Leu181=) c.475G>T c.*598G>T (n.*598G>T) c.105G>T (p.Leu35=) n.395G>T c.423G>T (p.Leu141=) | |
11 | g.68036503_68036505delinsGCT | CA1980452342 | NDUFS8 | c.543_545delinsGCT (p.Leu181=) c.475_477delinsGCT c.*598_*600delinsGCT (n.*598_*600delinsGCT) c.105_107delinsGCT (p.Leu35=) n.395_397delinsGCT c.423_425delinsGCT (p.Leu141=) | |
11 | g.68036504C>A | CA381569775 | NDUFS8 | c.544C>A (p.Leu182Met) c.476C>A c.*599C>A (n.*599C>A) c.106C>A (p.Leu36Met) n.396C>A c.424C>A (p.Leu142Met) | dbSNP |
11 | g.68036504C= | CA1980452345 | NDUFS8 | c.544C= (p.Leu182=) c.476C= c.*599C= (n.*599C=) c.106C= (p.Leu36=) n.396C= c.424C= (p.Leu142=) | |
11 | g.68036504C>G | CA381569776 | NDUFS8 | c.544C>G (p.Leu182Val) c.476C>G c.*599C>G (n.*599C>G) c.106C>G (p.Leu36Val) n.396C>G c.424C>G (p.Leu142Val) | gnomAD v4 |
11 | g.68036504C>T | CA475442796 | NDUFS8 | c.544C>T (p.Leu182=) c.476C>T c.*599C>T (n.*599C>T) c.106C>T (p.Leu36=) n.396C>T c.424C>T (p.Leu142=) | |
11 | g.68036504_68036505del | CA475442798 | NDUFS8 | c.544_545del (p.Leu182ValfsTer24) c.476_477del c.544_545del (p.Leu182ValfsTer?) c.*599_*600del (n.*599_*600del) c.106_107del (p.Leu36ValfsTer24) n.396_397del c.424_425del (p.Leu142ValfsTer24) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68036505T>A | CA381569777 | NDUFS8 | c.545T>A (p.Leu182Gln) c.477T>A c.*600T>A (n.*600T>A) c.107T>A (p.Leu36Gln) n.397T>A c.425T>A (p.Leu142Gln) | |
11 | g.68036505T>C | CA381569778 | NDUFS8 | c.545T>C (p.Leu182Pro) c.477T>C c.*600T>C (n.*600T>C) c.107T>C (p.Leu36Pro) n.397T>C c.425T>C (p.Leu142Pro) | |
11 | g.68036505T>G | CA381569779 | NDUFS8 | c.545T>G (p.Leu182Arg) c.477T>G c.*600T>G (n.*600T>G) c.107T>G (p.Leu36Arg) n.397T>G c.425T>G (p.Leu142Arg) | |
11 | g.68036506_68036507del | CA381569782 | NDUFS8 | c.546_547del (p.Tyr183GlnfsTer23) c.478_479del c.546_547del (p.Tyr183GlnfsTer?) c.*601_*602del (n.*601_*602del) c.108_109del (p.Tyr37GlnfsTer23) n.398_399del c.426_427del (p.Tyr143GlnfsTer23) | |
11 | g.68036506G>A | CA6146563 | NDUFS8 | c.546G>A (p.Leu182=) c.478G>A c.*601G>A (n.*601G>A) c.108G>A (p.Leu36=) n.398G>A c.426G>A (p.Leu142=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68036506G>C | CA475442805 | NDUFS8 | c.546G>C (p.Leu182=) c.478G>C c.*601G>C (n.*601G>C) c.108G>C (p.Leu36=) n.398G>C c.426G>C (p.Leu142=) | |
11 | g.68036506G= | CA1980452349 | NDUFS8 | c.546G= (p.Leu182=) c.478G= c.*601G= (n.*601G=) c.108G= (p.Leu36=) n.398G= c.426G= (p.Leu142=) | |
11 | g.68036506G>T | CA475442807 | NDUFS8 | c.546G>T (p.Leu182=) c.478G>T c.*601G>T (n.*601G>T) c.108G>T (p.Leu36=) n.398G>T c.426G>T (p.Leu142=) | |
11 | g.68036507T>A | CA381569787 | NDUFS8 | c.547T>A (p.Tyr183Asn) c.479T>A c.*602T>A (n.*602T>A) c.109T>A (p.Tyr37Asn) n.399T>A c.427T>A (p.Tyr143Asn) | |
11 | g.68036507T>C | CA381569789 | NDUFS8 | c.547T>C (p.Tyr183His) c.479T>C c.*602T>C (n.*602T>C) c.109T>C (p.Tyr37His) n.399T>C c.427T>C (p.Tyr143His) | |
11 | g.68036507T>G | CA381569791 | NDUFS8 | c.547T>G (p.Tyr183Asp) c.479T>G c.*602T>G (n.*602T>G) c.109T>G (p.Tyr37Asp) n.399T>G c.427T>G (p.Tyr143Asp) | |
11 | g.68036507_68036510delinsTACA | CA1980452351 | NDUFS8 | c.547_550delinsTACA (p.Tyr183=) c.479_482delinsTACA c.*602_*605delinsTACA (n.*602_*605delinsTACA) c.109_112delinsTACA (p.Tyr37=) n.399_402delinsTACA c.427_430delinsTACA (p.Tyr143=) | |
11 | g.68036508A>C | CA381569802 | NDUFS8 | c.548A>C (p.Tyr183Ser) c.480A>C c.*603A>C (n.*603A>C) c.110A>C (p.Tyr37Ser) n.400A>C c.428A>C (p.Tyr143Ser) | |
11 | g.68036508A>G | CA381569794 | NDUFS8 | c.548A>G (p.Tyr183Cys) c.480A>G c.*603A>G (n.*603A>G) c.110A>G (p.Tyr37Cys) n.400A>G c.428A>G (p.Tyr143Cys) | dbSNP gnomAD v4 |
11 | g.68036508A>T | CA381569798 | NDUFS8 | c.548A>T (p.Tyr183Phe) c.480A>T c.*603A>T (n.*603A>T) c.110A>T (p.Tyr37Phe) n.400A>T c.428A>T (p.Tyr143Phe) | |
11 | g.68036512_68036514del | CA600238543 | NDUFS8 | c.552_554del (p.Asn184del) c.484_486del c.*607_*609del (n.*607_*609del) c.114_116del (p.Asn38del) n.404_406del c.432_434del (p.Asn144del) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68036509C>A | CA381569803 | NDUFS8 | c.549C>A (p.Tyr183Ter) c.481C>A c.*604C>A (n.*604C>A) c.111C>A (p.Tyr37Ter) n.401C>A c.429C>A (p.Tyr143Ter) | |
11 | g.68036509C= | CA1980452357 | NDUFS8 | c.549C= (p.Tyr183=) c.481C= c.*604C= (n.*604C=) c.111C= (p.Tyr37=) n.401C= c.429C= (p.Tyr143=) | |
11 | g.68036509C>G | CA381569806 | NDUFS8 | c.549C>G (p.Tyr183Ter) c.481C>G c.*604C>G (n.*604C>G) c.111C>G (p.Tyr37Ter) n.401C>G c.429C>G (p.Tyr143Ter) | |
11 | g.68036509C>T | CA475442819 | NDUFS8 | c.549C>T (p.Tyr183=) c.481C>T c.*604C>T (n.*604C>T) c.111C>T (p.Tyr37=) n.401C>T c.429C>T (p.Tyr143=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68036510A= | CA1980452360 | NDUFS8 | c.550A= (p.Asn184=) c.482A= c.*605A= (n.*605A=) c.112A= (p.Asn38=) n.402A= c.430A= (p.Asn144=) | |
11 | g.68036510A>C | CA381569811 | NDUFS8 | c.550A>C (p.Asn184His) c.482A>C c.*605A>C (n.*605A>C) c.112A>C (p.Asn38His) n.402A>C c.430A>C (p.Asn144His) | |
11 | g.68036510A>G | CA381569814 | NDUFS8 | c.550A>G (p.Asn184Asp) c.482A>G c.*605A>G (n.*605A>G) c.112A>G (p.Asn38Asp) n.402A>G c.430A>G (p.Asn144Asp) | dbSNP |
11 | g.68036510A>T | CA381569816 | NDUFS8 | c.550A>T (p.Asn184Tyr) c.482A>T c.*605A>T (n.*605A>T) c.112A>T (p.Asn38Tyr) n.402A>T c.430A>T (p.Asn144Tyr) | |
11 | g.68036511A= | CA1980452365 | NDUFS8 | c.551A= (p.Asn184=) c.483A= c.*606A= (n.*606A=) c.113A= (p.Asn38=) n.403A= c.431A= (p.Asn144=) | |
11 | g.68036511A>C | CA381569835 | NDUFS8 | c.551A>C (p.Asn184Thr) c.483A>C c.*606A>C (n.*606A>C) c.113A>C (p.Asn38Thr) n.403A>C c.431A>C (p.Asn144Thr) | |
11 | g.68036511A>G | CA381569837 | NDUFS8 | c.551A>G (p.Asn184Ser) c.483A>G c.*606A>G (n.*606A>G) c.113A>G (p.Asn38Ser) n.403A>G c.431A>G (p.Asn144Ser) | |
11 | g.68036511A>T | CA381569840 | NDUFS8 | c.551A>T (p.Asn184Ile) c.483A>T c.*606A>T (n.*606A>T) c.113A>T (p.Asn38Ile) n.403A>T c.431A>T (p.Asn144Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.68036511_68036512delinsAC | CA1980452364 | NDUFS8 | c.551_552delinsAC (p.Asn184=) c.483_484delinsAC c.*606_*607delinsAC (n.*606_*607delinsAC) c.113_114delinsAC (p.Asn38=) n.403_404delinsAC c.431_432delinsAC (p.Asn144=) | |
11 | g.68036512del | CA6146564 | NDUFS8 | c.552del (p.Asn184LysfsTer?) c.484del c.*607del (n.*607del) c.114del (p.Asn38LysfsTer?) n.404del c.432del (p.Asn144LysfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68036512C>A | CA381569843 | NDUFS8 | c.552C>A (p.Asn184Lys) c.484C>A c.*607C>A (n.*607C>A) c.114C>A (p.Asn38Lys) n.404C>A c.432C>A (p.Asn144Lys) | |
11 | g.68036512C>G | CA381569846 | NDUFS8 | c.552C>G (p.Asn184Lys) c.484C>G c.*607C>G (n.*607C>G) c.114C>G (p.Asn38Lys) n.404C>G c.432C>G (p.Asn144Lys) | |
11 | g.68036512C>T | CA475442828 | NDUFS8 | c.552C>T (p.Asn184=) c.484C>T c.*607C>T (n.*607C>T) c.114C>T (p.Asn38=) n.404C>T c.432C>T (p.Asn144=) | |
11 | g.68036513A>C | CA381569858 | NDUFS8 | c.553A>C (p.Lys185Gln) c.485A>C c.553A>C c.*608A>C (n.*608A>C) c.115A>C (p.Lys39Gln) n.405A>C c.433A>C (p.Lys145Gln) | |
11 | g.68036513A>G | CA381569855 | NDUFS8 | c.553A>G (p.Lys185Glu) c.485A>G c.553A>G c.*608A>G (n.*608A>G) c.115A>G (p.Lys39Glu) n.405A>G c.433A>G (p.Lys145Glu) | gnomAD v4 |
11 | g.68036513A>T | CA381569852 | NDUFS8 | c.553A>T (p.Lys185Ter) c.485A>T c.553A>T c.*608A>T (n.*608A>T) c.115A>T (p.Lys39Ter) n.405A>T c.433A>T (p.Lys145Ter) | |
11 | g.68036513_68036516delinsAAGG | CA1980452371 | NDUFS8 | c.553_556delinsAAGG (p.Lys185=) c.485_488delinsAAGG c.*608_*611delinsAAGG (n.*608_*611delinsAAGG) c.115_118delinsAAGG (p.Lys39=) n.405_408delinsAAGG c.433_436delinsAAGG (p.Lys145=) | |
11 | g.68036514A= | CA1980452376 | NDUFS8 | c.554A= (p.Lys185=) c.486A= c.554A= c.*609A= (n.*609A=) c.116A= (p.Lys39=) n.406A= c.434A= (p.Lys145=) | |
11 | g.68036514A>C | CA381569865 | NDUFS8 | c.554A>C (p.Lys185Thr) c.486A>C c.554A>C c.*609A>C (n.*609A>C) c.116A>C (p.Lys39Thr) n.406A>C c.434A>C (p.Lys145Thr) | |
11 | g.68036514A>G | CA381569874 | NDUFS8 | c.554A>G (p.Lys185Arg) c.486A>G c.554A>G c.*609A>G (n.*609A>G) c.116A>G (p.Lys39Arg) n.406A>G c.434A>G (p.Lys145Arg) | |
11 | g.68036514A>T | CA6146566 | NDUFS8 | c.554A>T (p.Lys185Met) c.486A>T c.554A>T c.*609A>T (n.*609A>T) c.116A>T (p.Lys39Met) n.406A>T c.434A>T (p.Lys145Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68036516_68036518del | CA6146565 | NDUFS8 | c.556_558del (p.Glu186del) c.488_490del c.*611_*613del (n.*611_*613del) c.118_120del (p.Glu40del) n.408_410del c.436_438del (p.Glu146del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68036515G>A | CA475442845 | NDUFS8 | c.555G>A (p.Lys185=) c.487G>A c.*610G>A (n.*610G>A) c.117G>A (p.Lys39=) n.407G>A c.435G>A (p.Lys145=) | |
11 | g.68036515G>C | CA381569884 | NDUFS8 | c.555G>C (p.Lys185Asn) c.487G>C c.*610G>C (n.*610G>C) c.117G>C (p.Lys39Asn) n.407G>C c.435G>C (p.Lys145Asn) | |
11 | g.68036515G>T | CA381569886 | NDUFS8 | c.555G>T (p.Lys185Asn) c.487G>T c.*610G>T (n.*610G>T) c.117G>T (p.Lys39Asn) n.407G>T c.435G>T (p.Lys145Asn) | |
11 | g.68036516G>A | CA381569891 | NDUFS8 | c.556G>A (p.Glu186Lys) c.488G>A c.*611G>A (n.*611G>A) c.118G>A (p.Glu40Lys) n.408G>A c.436G>A (p.Glu146Lys) | |
11 | g.68036516G>C | CA381569894 | NDUFS8 | c.556G>C (p.Glu186Gln) c.488G>C c.*611G>C (n.*611G>C) c.118G>C (p.Glu40Gln) n.408G>C c.436G>C (p.Glu146Gln) | |
11 | g.68036516G>T | CA381569896 | NDUFS8 | c.556G>T (p.Glu186Ter) c.488G>T c.*611G>T (n.*611G>T) c.118G>T (p.Glu40Ter) n.408G>T c.436G>T (p.Glu146Ter) | |
11 | g.68036517A>C | CA381569899 | NDUFS8 | c.557A>C (p.Glu186Ala) c.489A>C c.*612A>C (n.*612A>C) c.119A>C (p.Glu40Ala) n.409A>C c.437A>C (p.Glu146Ala) | |
11 | g.68036517A>G | CA381569902 | NDUFS8 | c.557A>G (p.Glu186Gly) c.489A>G c.*612A>G (n.*612A>G) c.119A>G (p.Glu40Gly) n.409A>G c.437A>G (p.Glu146Gly) | |
11 | g.68036517A>T | CA381569905 | NDUFS8 | c.557A>T (p.Glu186Val) c.489A>T c.*612A>T (n.*612A>T) c.119A>T (p.Glu40Val) n.409A>T c.437A>T (p.Glu146Val) | |
11 | g.68036518G>A | CA475442857 | NDUFS8 | c.558G>A (p.Glu186=) c.490G>A c.*613G>A (n.*613G>A) c.120G>A (p.Glu40=) n.410G>A c.438G>A (p.Glu146=) | |
11 | g.68036518G>C | CA381569911 | NDUFS8 | c.558G>C (p.Glu186Asp) c.490G>C c.*613G>C (n.*613G>C) c.120G>C (p.Glu40Asp) n.410G>C c.438G>C (p.Glu146Asp) | |
11 | g.68036518G>T | CA381569909 | NDUFS8 | c.558G>T (p.Glu186Asp) c.490G>T c.*613G>T (n.*613G>T) c.120G>T (p.Glu40Asp) n.410G>T c.438G>T (p.Glu146Asp) | |
11 | g.68036519A>C | CA381569914 | NDUFS8 | c.559A>C (p.Lys187Gln) c.491A>C c.*614A>C (n.*614A>C) c.121A>C (p.Lys41Gln) n.411A>C c.439A>C (p.Lys147Gln) | |
11 | g.68036519A>G | CA381569916 | NDUFS8 | c.559A>G (p.Lys187Glu) c.491A>G c.*614A>G (n.*614A>G) c.121A>G (p.Lys41Glu) n.411A>G c.439A>G (p.Lys147Glu) | gnomAD v4 |
11 | g.68036519A>T | CA381569919 | NDUFS8 | c.559A>T (p.Lys187Ter) c.491A>T c.*614A>T (n.*614A>T) c.121A>T (p.Lys41Ter) n.411A>T c.439A>T (p.Lys147Ter) |