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This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68032292_68036281del | CA2573102972 | NDUFS8 | c.65_401del c.56-631_347del c.65_*456del c.-67+1559_-38del c.-243_281del | |
| 11 | g.68036259_68036260delinsAC | CA1980451835 | NDUFS8 | c.379_380delinsAC (p.Thr127=) c.311_312delinsAC c.325_326delinsAC (p.Thr109=) c.*434_*435delinsAC (n.*434_*435delinsAC) n.330_331delinsAC c.-60_-59delinsAC (n.-60_-59delinsAC) n.231_232delinsAC c.259_260delinsAC (p.Thr87=) | |
| 11 | g.68036260C>A | CA381568680 | NDUFS8 | c.380C>A (p.Thr127Asn) c.312C>A c.326C>A (p.Thr109Asn) c.*435C>A (n.*435C>A) n.331C>A c.-59C>A (n.-59C>A) n.232C>A c.260C>A (p.Thr87Asn) | |
| 11 | g.68036260C= | CA1980451839 | NDUFS8 | c.380C= (p.Thr127=) c.312C= c.326C= (p.Thr109=) c.*435C= (n.*435C=) n.331C= c.-59C= (n.-59C=) n.232C= c.260C= (p.Thr87=) | |
| 11 | g.68036260C>G | CA381568683 | NDUFS8 | c.380C>G (p.Thr127Ser) c.312C>G c.326C>G (p.Thr109Ser) c.*435C>G (n.*435C>G) n.331C>G c.-59C>G (n.-59C>G) n.232C>G c.260C>G (p.Thr87Ser) | |
| 11 | g.68036260C>T | CA6146512 | NDUFS8 | c.380C>T (p.Thr127Ile) c.312C>T c.326C>T (p.Thr109Ile) c.*435C>T (n.*435C>T) n.331C>T c.-59C>T (n.-59C>T) n.232C>T c.260C>T (p.Thr87Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68036261del | CA599929893 | NDUFS8 | c.381del (p.Ile128SerfsTer20) c.313del c.327del (p.Ile110SerfsTer20) c.*436del (n.*436del) n.332del c.-58del (n.-58del) n.233del c.261del (p.Ile88SerfsTer20) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68036260_68036263delinsCCAT | CA1980451838 | NDUFS8 | c.380_383delinsCCAT (p.Thr127=) c.312_315delinsCCAT c.326_329delinsCCAT (p.Thr109=) c.*435_*438delinsCCAT (n.*435_*438delinsCCAT) n.331_334delinsCCAT c.-59_-56delinsCCAT (n.-59_-56delinsCCAT) n.232_235delinsCCAT c.260_263delinsCCAT (p.Thr87=) | |
| 11 | g.68036261C>A | CA475441016 | NDUFS8 | c.381C>A (p.Thr127=) c.313C>A c.327C>A (p.Thr109=) c.*436C>A (n.*436C>A) n.332C>A c.-58C>A (n.-58C>A) n.233C>A c.261C>A (p.Thr87=) | |
| 11 | g.68036261C= | CA1980451840 | NDUFS8 | c.381C= (p.Thr127=) c.313C= c.327C= (p.Thr109=) c.*436C= (n.*436C=) n.332C= c.-58C= (n.-58C=) n.233C= c.261C= (p.Thr87=) | |
| 11 | g.68036261C>G | CA475441022 | NDUFS8 | c.381C>G (p.Thr127=) c.313C>G c.327C>G (p.Thr109=) c.*436C>G (n.*436C>G) n.332C>G c.-58C>G (n.-58C>G) n.233C>G c.261C>G (p.Thr87=) | |
| 11 | g.68036261C>T | CA6146514 | NDUFS8 | c.381C>T (p.Thr127=) c.313C>T c.327C>T (p.Thr109=) c.*436C>T (n.*436C>T) n.332C>T c.-58C>T (n.-58C>T) n.233C>T c.261C>T (p.Thr87=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68036262_68036264del | CA6146513 | NDUFS8 | c.382_384del (p.Ile128del) c.314_316del c.328_330del (p.Ile110del) c.*437_*439del (n.*437_*439del) n.333_335del c.-57_-55del (n.-57_-55del) n.234_236del c.262_264del (p.Ile88del) | dbSNP ExAC gnomAD v2 |
| 11 | g.68036262A= | CA1980451842 | NDUFS8 | c.382A= (p.Ile128=) c.314A= c.328A= (p.Ile110=) c.*437A= (n.*437A=) n.333A= c.-57A= (n.-57A=) n.234A= c.262A= (p.Ile88=) | |
| 11 | g.68036262A>C | CA381568693 | NDUFS8 | c.382A>C (p.Ile128Leu) c.314A>C c.328A>C (p.Ile110Leu) c.*437A>C (n.*437A>C) n.333A>C c.-57A>C (n.-57A>C) n.234A>C c.262A>C (p.Ile88Leu) | |
| 11 | g.68036262A>G | CA381568698 | NDUFS8 | c.382A>G (p.Ile128Val) c.314A>G c.328A>G (p.Ile110Val) c.*437A>G (n.*437A>G) n.333A>G c.-57A>G (n.-57A>G) n.234A>G c.262A>G (p.Ile88Val) | gnomAD v4 |
| 11 | g.68036262A>T | CA381568701 | NDUFS8 | c.382A>T (p.Ile128Phe) c.314A>T c.328A>T (p.Ile110Phe) c.*437A>T (n.*437A>T) n.333A>T c.-57A>T (n.-57A>T) n.234A>T c.262A>T (p.Ile88Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68036263T>A | CA381568703 | NDUFS8 | c.383T>A (p.Ile128Asn) c.315T>A c.329T>A (p.Ile110Asn) c.*438T>A (n.*438T>A) n.334T>A c.-56T>A (n.-56T>A) n.235T>A c.263T>A (p.Ile88Asn) | |
| 11 | g.68036263T>C | CA381568705 | NDUFS8 | c.383T>C (p.Ile128Thr) c.315T>C c.329T>C (p.Ile110Thr) c.*438T>C (n.*438T>C) n.334T>C c.-56T>C (n.-56T>C) n.235T>C c.263T>C (p.Ile88Thr) | gnomAD v4 |
| 11 | g.68036263T>G | CA381568706 | NDUFS8 | c.383T>G (p.Ile128Ser) c.315T>G c.329T>G (p.Ile110Ser) c.*438T>G (n.*438T>G) n.334T>G c.-56T>G (n.-56T>G) n.235T>G c.263T>G (p.Ile88Ser) | |
| 11 | g.68036264C>A | CA475441035 | NDUFS8 | c.384C>A (p.Ile128=) c.316C>A c.330C>A (p.Ile110=) c.*439C>A (n.*439C>A) n.335C>A c.-55C>A (n.-55C>A) n.236C>A c.264C>A (p.Ile88=) | |
| 11 | g.68036264C= | CA1980451845 | NDUFS8 | c.384C= (p.Ile128=) c.316C= c.330C= (p.Ile110=) c.*439C= (n.*439C=) n.335C= c.-55C= (n.-55C=) n.236C= c.264C= (p.Ile88=) | |
| 11 | g.68036264C>G | CA381568711 | NDUFS8 | c.384C>G (p.Ile128Met) c.316C>G c.330C>G (p.Ile110Met) c.*439C>G (n.*439C>G) n.335C>G c.-55C>G (n.-55C>G) n.236C>G c.264C>G (p.Ile88Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68036264C>T | CA6146515 | NDUFS8 | c.384C>T (p.Ile128=) c.316C>T c.330C>T (p.Ile110=) c.*439C>T (n.*439C>T) n.335C>T c.-55C>T (n.-55C>T) n.236C>T c.264C>T (p.Ile88=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036265G>A | CA6146516 | NDUFS8 | c.385G>A (p.Glu129Lys) c.317G>A c.331G>A (p.Glu111Lys) c.*440G>A (n.*440G>A) n.336G>A c.-54G>A (n.-54G>A) n.237G>A c.265G>A (p.Glu89Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.68036265G>C | CA381568717 | NDUFS8 | c.385G>C (p.Glu129Gln) c.317G>C c.331G>C (p.Glu111Gln) c.*440G>C (n.*440G>C) n.336G>C c.-54G>C (n.-54G>C) n.237G>C c.265G>C (p.Glu89Gln) | gnomAD v4 |
| 11 | g.68036265G= | CA1980451847 | NDUFS8 | c.385G= (p.Glu129=) c.317G= c.331G= (p.Glu111=) c.*440G= (n.*440G=) n.336G= c.-54G= (n.-54G=) n.237G= c.265G= (p.Glu89=) | |
| 11 | g.68036265G>T | CA381568721 | NDUFS8 | c.385G>T (p.Glu129Ter) c.317G>T c.331G>T (p.Glu111Ter) c.*440G>T (n.*440G>T) n.336G>T c.-54G>T (n.-54G>T) n.237G>T c.265G>T (p.Glu89Ter) | |
| 11 | g.68036266A>C | CA381568725 | NDUFS8 | c.386A>C (p.Glu129Ala) c.318A>C c.332A>C (p.Glu111Ala) c.*441A>C (n.*441A>C) n.337A>C c.-53A>C (n.-53A>C) n.238A>C c.266A>C (p.Glu89Ala) | |
| 11 | g.68036266A>G | CA381568728 | NDUFS8 | c.386A>G (p.Glu129Gly) c.318A>G c.332A>G (p.Glu111Gly) c.*441A>G (n.*441A>G) n.337A>G c.-53A>G (n.-53A>G) n.238A>G c.266A>G (p.Glu89Gly) | |
| 11 | g.68036266A>T | CA381568731 | NDUFS8 | c.386A>T (p.Glu129Val) c.318A>T c.332A>T (p.Glu111Val) c.*441A>T (n.*441A>T) n.337A>T c.-53A>T (n.-53A>T) n.238A>T c.266A>T (p.Glu89Val) | gnomAD v4 |
| 11 | g.68036267G>A | CA475441049 | NDUFS8 | c.387G>A (p.Glu129=) c.319G>A c.333G>A (p.Glu111=) c.*442G>A (n.*442G>A) n.338G>A c.-52G>A (n.-52G>A) n.239G>A c.267G>A (p.Glu89=) | |
| 11 | g.68036267G>C | CA381568738 | NDUFS8 | c.387G>C (p.Glu129Asp) c.319G>C c.333G>C (p.Glu111Asp) c.*442G>C (n.*442G>C) n.338G>C c.-52G>C (n.-52G>C) n.239G>C c.267G>C (p.Glu89Asp) | |
| 11 | g.68036267G>T | CA381568734 | NDUFS8 | c.387G>T (p.Glu129Asp) c.319G>T c.333G>T (p.Glu111Asp) c.*442G>T (n.*442G>T) n.338G>T c.-52G>T (n.-52G>T) n.239G>T c.267G>T (p.Glu89Asp) | |
| 11 | g.68036268G>A | CA6146517 | NDUFS8 | c.388G>A (p.Ala130Thr) c.320G>A c.334G>A (p.Ala112Thr) c.*443G>A (n.*443G>A) n.339G>A c.-51G>A (n.-51G>A) n.240G>A c.268G>A (p.Ala90Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68036268G>C | CA381568744 | NDUFS8 | c.388G>C (p.Ala130Pro) c.320G>C c.334G>C (p.Ala112Pro) c.*443G>C (n.*443G>C) n.339G>C c.-51G>C (n.-51G>C) n.240G>C c.268G>C (p.Ala90Pro) | |
| 11 | g.68036268G= | CA1980451848 | NDUFS8 | c.388G= (p.Ala130=) c.320G= c.334G= (p.Ala112=) c.*443G= (n.*443G=) n.339G= c.-51G= (n.-51G=) n.240G= c.268G= (p.Ala90=) | |
| 11 | g.68036268G>T | CA381568747 | NDUFS8 | c.388G>T (p.Ala130Ser) c.320G>T c.334G>T (p.Ala112Ser) c.*443G>T (n.*443G>T) n.339G>T c.-51G>T (n.-51G>T) n.240G>T c.268G>T (p.Ala90Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68036269C>A | CA381568752 | NDUFS8 | c.389C>A (p.Ala130Asp) c.321C>A c.335C>A (p.Ala112Asp) c.*444C>A (n.*444C>A) n.340C>A c.-50C>A (n.-50C>A) n.241C>A c.269C>A (p.Ala90Asp) | |
| 11 | g.68036269C>G | CA381568755 | NDUFS8 | c.389C>G (p.Ala130Gly) c.321C>G c.335C>G (p.Ala112Gly) c.*444C>G (n.*444C>G) n.340C>G c.-50C>G (n.-50C>G) n.241C>G c.269C>G (p.Ala90Gly) | |
| 11 | g.68036269C>T | CA381568759 | NDUFS8 | c.389C>T (p.Ala130Val) c.321C>T c.335C>T (p.Ala112Val) c.*444C>T (n.*444C>T) n.340C>T c.-50C>T (n.-50C>T) n.241C>T c.269C>T (p.Ala90Val) | |
| 11 | g.68036270del | CA475441066 | NDUFS8 | c.390del (p.Glu131SerfsTer17) c.322del c.336del (p.Glu113SerfsTer17) c.*445del (n.*445del) n.341del c.-49del (n.-49del) n.242del c.270del (p.Glu91SerfsTer17) | COSMIC |
| 11 | g.68036270T>A | CA224194806 | NDUFS8 | c.390T>A (p.Ala130=) c.322T>A c.336T>A (p.Ala112=) c.*445T>A (n.*445T>A) n.341T>A c.-49T>A (n.-49T>A) n.242T>A c.270T>A (p.Ala90=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68036270T>C | CA475441069 | NDUFS8 | c.390T>C (p.Ala130=) c.322T>C c.336T>C (p.Ala112=) c.*445T>C (n.*445T>C) n.341T>C c.-49T>C (n.-49T>C) n.242T>C c.270T>C (p.Ala90=) | dbSNP |
| 11 | g.68036270T>G | CA475441064 | NDUFS8 | c.390T>G (p.Ala130=) c.322T>G c.336T>G (p.Ala112=) c.*445T>G (n.*445T>G) n.341T>G c.-49T>G (n.-49T>G) n.242T>G c.270T>G (p.Ala90=) | |
| 11 | g.68036270T= | CA1980451850 | NDUFS8 | c.390T= (p.Ala130=) c.322T= c.336T= (p.Ala112=) c.*445T= (n.*445T=) n.341T= c.-49T= (n.-49T=) n.242T= c.270T= (p.Ala90=) | |
| 11 | g.68036271G>A | CA381568762 | NDUFS8 | c.391G>A (p.Glu131Lys) c.323G>A c.337G>A (p.Glu113Lys) c.*446G>A (n.*446G>A) n.342G>A c.-48G>A (n.-48G>A) n.243G>A c.271G>A (p.Glu91Lys) | |
| 11 | g.68036271G>C | CA381568768 | NDUFS8 | c.391G>C (p.Glu131Gln) c.323G>C c.337G>C (p.Glu113Gln) c.*446G>C (n.*446G>C) n.342G>C c.-48G>C (n.-48G>C) n.243G>C c.271G>C (p.Glu91Gln) | |
| 11 | g.68036271G= | CA1980451852 | NDUFS8 | c.391G= (p.Glu131=) c.323G= c.337G= (p.Glu113=) c.*446G= (n.*446G=) n.342G= c.-48G= (n.-48G=) n.243G= c.271G= (p.Glu91=) | |
| 11 | g.68036271G>T | CA224194810 | NDUFS8 | c.391G>T (p.Glu131Ter) c.323G>T c.337G>T (p.Glu113Ter) c.*446G>T (n.*446G>T) n.342G>T c.-48G>T (n.-48G>T) n.243G>T c.271G>T (p.Glu91Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68036272A= | CA1980451853 | NDUFS8 | c.392A= (p.Glu131=) c.324A= c.338A= (p.Glu113=) c.*447A= (n.*447A=) n.343A= c.-47A= (n.-47A=) n.244A= c.272A= (p.Glu91=) | |
| 11 | g.68036272A>C | CA381568772 | NDUFS8 | c.392A>C (p.Glu131Ala) c.324A>C c.338A>C (p.Glu113Ala) c.*447A>C (n.*447A>C) n.343A>C c.-47A>C (n.-47A>C) n.244A>C c.272A>C (p.Glu91Ala) | |
| 11 | g.68036272A>G | CA6146518 | NDUFS8 | c.392A>G (p.Glu131Gly) c.324A>G c.338A>G (p.Glu113Gly) c.*447A>G (n.*447A>G) n.343A>G c.-47A>G (n.-47A>G) n.244A>G c.272A>G (p.Glu91Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036272A>T | CA381568775 | NDUFS8 | c.392A>T (p.Glu131Val) c.324A>T c.338A>T (p.Glu113Val) c.*447A>T (n.*447A>T) n.343A>T c.-47A>T (n.-47A>T) n.244A>T c.272A>T (p.Glu91Val) | |
| 11 | g.68036273G>A | CA475441085 | NDUFS8 | c.393G>A (p.Glu131=) c.325G>A c.339G>A (p.Glu113=) c.*448G>A (n.*448G>A) n.344G>A c.-46G>A (n.-46G>A) n.245G>A c.273G>A (p.Glu91=) | dbSNP gnomAD v4 |
| 11 | g.68036273G>C | CA381568778 | NDUFS8 | c.393G>C (p.Glu131Asp) c.325G>C c.339G>C (p.Glu113Asp) c.*448G>C (n.*448G>C) n.344G>C c.-46G>C (n.-46G>C) n.245G>C c.273G>C (p.Glu91Asp) | |
| 11 | g.68036273G= | CA1980451854 | NDUFS8 | c.393G= (p.Glu131=) c.325G= c.339G= (p.Glu113=) c.*448G= (n.*448G=) n.344G= c.-46G= (n.-46G=) n.245G= c.273G= (p.Glu91=) | |
| 11 | g.68036273G>T | CA381568782 | NDUFS8 | c.393G>T (p.Glu131Asp) c.325G>T c.339G>T (p.Glu113Asp) c.*448G>T (n.*448G>T) n.344G>T c.-46G>T (n.-46G>T) n.245G>T c.273G>T (p.Glu91Asp) | |
| 11 | g.68036274C>A | CA381568786 | NDUFS8 | c.394C>A (p.Pro132Thr) c.326C>A c.340C>A (p.Pro114Thr) c.*449C>A (n.*449C>A) n.345C>A c.-45C>A (n.-45C>A) n.246C>A c.274C>A (p.Pro92Thr) | |
| 11 | g.68036274C= | CA1980451855 | NDUFS8 | c.394C= (p.Pro132=) c.326C= c.340C= (p.Pro114=) c.*449C= (n.*449C=) n.345C= c.-45C= (n.-45C=) n.246C= c.274C= (p.Pro92=) | |
| 11 | g.68036274C>G | CA6146519 | NDUFS8 | c.394C>G (p.Pro132Ala) c.326C>G c.340C>G (p.Pro114Ala) c.*449C>G (n.*449C>G) n.345C>G c.-45C>G (n.-45C>G) n.246C>G c.274C>G (p.Pro92Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68036274C>T | CA381568791 | NDUFS8 | c.394C>T (p.Pro132Ser) c.326C>T c.340C>T (p.Pro114Ser) c.*449C>T (n.*449C>T) n.345C>T c.-45C>T (n.-45C>T) n.246C>T c.274C>T (p.Pro92Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68036275C>A | CA381568795 | NDUFS8 | c.395C>A (p.Pro132Gln) c.327C>A c.341C>A (p.Pro114Gln) c.*450C>A (n.*450C>A) n.346C>A c.-44C>A (n.-44C>A) n.247C>A c.275C>A (p.Pro92Gln) | dbSNP |
| 11 | g.68036275C= | CA1980451857 | NDUFS8 | c.395C= (p.Pro132=) c.327C= c.341C= (p.Pro114=) c.*450C= (n.*450C=) n.346C= c.-44C= (n.-44C=) n.247C= c.275C= (p.Pro92=) | |
| 11 | g.68036275C>G | CA381568799 | NDUFS8 | c.395C>G (p.Pro132Arg) c.327C>G c.341C>G (p.Pro114Arg) c.*450C>G (n.*450C>G) n.346C>G c.-44C>G (n.-44C>G) n.247C>G c.275C>G (p.Pro92Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68036275C>T | CA381568802 | NDUFS8 | c.395C>T (p.Pro132Leu) c.327C>T c.341C>T (p.Pro114Leu) c.*450C>T (n.*450C>T) n.346C>T c.-44C>T (n.-44C>T) n.247C>T c.275C>T (p.Pro92Leu) | gnomAD v4 |
| 11 | g.68036276A= | CA1980451859 | NDUFS8 | c.396A= (p.Pro132=) c.328A= c.342A= (p.Pro114=) c.*451A= (n.*451A=) n.347A= c.-43A= (n.-43A=) n.248A= c.276A= (p.Pro92=) | |
| 11 | g.68036276A>C | CA475441102 | NDUFS8 | c.396A>C (p.Pro132=) c.328A>C c.342A>C (p.Pro114=) c.*451A>C (n.*451A>C) n.347A>C c.-43A>C (n.-43A>C) n.248A>C c.276A>C (p.Pro92=) | |
| 11 | g.68036276A>G | CA475441104 | NDUFS8 | c.396A>G (p.Pro132=) c.328A>G c.342A>G (p.Pro114=) c.*451A>G (n.*451A>G) n.347A>G c.-43A>G (n.-43A>G) n.248A>G c.276A>G (p.Pro92=) | dbSNP |
| 11 | g.68036276A>T | CA475441106 | NDUFS8 | c.396A>T (p.Pro132=) c.328A>T c.342A>T (p.Pro114=) c.*451A>T (n.*451A>T) n.347A>T c.-43A>T (n.-43A>T) n.248A>T c.276A>T (p.Pro92=) | dbSNP |
| 11 | g.68036277A= | CA1980451860 | NDUFS8 | c.397A= (p.Arg133=) c.329A= c.343A= (p.Arg115=) c.*452A= (n.*452A=) n.348A= c.-42A= (n.-42A=) n.249A= c.277A= (p.Arg93=) | |
| 11 | g.68036277A>C | CA475441107 | NDUFS8 | c.397A>C (p.Arg133=) c.329A>C c.343A>C (p.Arg115=) c.*452A>C (n.*452A>C) n.348A>C c.-42A>C (n.-42A>C) n.249A>C c.277A>C (p.Arg93=) | dbSNP |
| 11 | g.68036277A>G | CA381568806 | NDUFS8 | c.397A>G (p.Arg133Gly) c.329A>G c.343A>G (p.Arg115Gly) c.*452A>G (n.*452A>G) n.348A>G c.-42A>G (n.-42A>G) n.249A>G c.277A>G (p.Arg93Gly) | COSMIC |
| 11 | g.68036277A>T | CA381568810 | NDUFS8 | c.397A>T (p.Arg133Ter) c.329A>T c.343A>T (p.Arg115Ter) c.*452A>T (n.*452A>T) n.348A>T c.-42A>T (n.-42A>T) n.249A>T c.277A>T (p.Arg93Ter) | |
| 11 | g.68036278G>A | CA381568814 | NDUFS8 | c.398G>A (p.Arg133Lys) c.330G>A c.344G>A (p.Arg115Lys) c.*453G>A (n.*453G>A) n.349G>A c.-41G>A (n.-41G>A) n.250G>A c.278G>A (p.Arg93Lys) | |
| 11 | g.68036278G>C | CA381568822 | NDUFS8 | c.398G>C (p.Arg133Thr) c.330G>C c.344G>C (p.Arg115Thr) c.*453G>C (n.*453G>C) n.349G>C c.-41G>C (n.-41G>C) n.250G>C c.278G>C (p.Arg93Thr) | |
| 11 | g.68036278G>T | CA381568817 | NDUFS8 | c.398G>T (p.Arg133Ile) c.330G>T c.344G>T (p.Arg115Ile) c.*453G>T (n.*453G>T) n.349G>T c.-41G>T (n.-41G>T) n.250G>T c.278G>T (p.Arg93Ile) | |
| 11 | g.68036279A= | CA1980451862 | NDUFS8 | c.399A= (p.Arg133=) c.331A= c.345A= (p.Arg115=) c.*454A= (n.*454A=) n.350A= c.-40A= (n.-40A=) n.251A= c.279A= (p.Arg93=) | |
| 11 | g.68036279A>C | CA381568825 | NDUFS8 | c.399A>C (p.Arg133Ser) c.331A>C c.345A>C (p.Arg115Ser) c.*454A>C (n.*454A>C) n.350A>C c.-40A>C (n.-40A>C) n.251A>C c.279A>C (p.Arg93Ser) | dbSNP |
| 11 | g.68036279A>G | CA475441120 | NDUFS8 | c.399A>G (p.Arg133=) c.331A>G c.345A>G (p.Arg115=) c.*454A>G (n.*454A>G) n.350A>G c.-40A>G (n.-40A>G) n.251A>G c.279A>G (p.Arg93=) | gnomAD v4 |
| 11 | g.68036279A>T | CA381568829 | NDUFS8 | c.399A>T (p.Arg133Ser) c.331A>T c.345A>T (p.Arg115Ser) c.*454A>T (n.*454A>T) n.350A>T c.-40A>T (n.-40A>T) n.251A>T c.279A>T (p.Arg93Ser) | dbSNP |
| 11 | g.68036280del | CA2614691806 | NDUFS8 | c.400del (p.Ala134LeufsTer14) c.332del c.346del (p.Ala116LeufsTer14) c.*455del (n.*455del) n.351del c.-39del (n.-39del) n.252del c.280del (p.Ala94LeufsTer14) | gnomAD v4 |
| 11 | g.68036280G>A | CA381568833 | NDUFS8 | c.400G>A (p.Ala134Thr) c.332G>A c.346G>A (p.Ala116Thr) c.*455G>A (n.*455G>A) n.351G>A c.-39G>A (n.-39G>A) n.252G>A c.280G>A (p.Ala94Thr) | |
| 11 | g.68036280G>C | CA381568836 | NDUFS8 | c.400G>C (p.Ala134Pro) c.332G>C c.346G>C (p.Ala116Pro) c.*455G>C (n.*455G>C) n.351G>C c.-39G>C (n.-39G>C) n.252G>C c.280G>C (p.Ala94Pro) | |
| 11 | g.68036280G>T | CA381568840 | NDUFS8 | c.400G>T (p.Ala134Ser) c.332G>T c.346G>T (p.Ala116Ser) c.*455G>T (n.*455G>T) n.351G>T c.-39G>T (n.-39G>T) n.252G>T c.280G>T (p.Ala94Ser) | |
| 11 | g.68036281C>A | CA381568851 | NDUFS8 | c.401C>A (p.Ala134Asp) c.333C>A c.347C>A (p.Ala116Asp) c.*456C>A (n.*456C>A) n.352C>A c.-38C>A (n.-38C>A) n.253C>A c.281C>A (p.Ala94Asp) | dbSNP |
| 11 | g.68036281C= | CA1980451863 | NDUFS8 | c.401C= (p.Ala134=) c.333C= c.347C= (p.Ala116=) c.*456C= (n.*456C=) n.352C= c.-38C= (n.-38C=) n.253C= c.281C= (p.Ala94=) | |
| 11 | g.68036281C>G | CA381568853 | NDUFS8 | c.401C>G (p.Ala134Gly) c.333C>G c.347C>G (p.Ala116Gly) c.*456C>G (n.*456C>G) n.352C>G c.-38C>G (n.-38C>G) n.253C>G c.281C>G (p.Ala94Gly) | |
| 11 | g.68036281C>T | CA381568856 | NDUFS8 | c.401C>T (p.Ala134Val) c.333C>T c.347C>T (p.Ala116Val) c.*456C>T (n.*456C>T) n.352C>T c.-38C>T (n.-38C>T) n.253C>T c.281C>T (p.Ala94Val) | dbSNP gnomAD v4 |
| 11 | g.68036282T>A | CA475441133 | NDUFS8 | c.402T>A (p.Ala134=) c.334T>A c.348T>A (p.Ala116=) c.*457T>A (n.*457T>A) n.353T>A c.-37T>A (n.-37T>A) n.254T>A c.282T>A (p.Ala94=) | |
| 11 | g.68036282T>C | CA475441135 | NDUFS8 | c.402T>C (p.Ala134=) c.334T>C c.348T>C (p.Ala116=) c.*457T>C (n.*457T>C) n.353T>C c.-37T>C (n.-37T>C) n.254T>C c.282T>C (p.Ala94=) | dbSNP |
| 11 | g.68036282T>G | CA475441136 | NDUFS8 | c.402T>G (p.Ala134=) c.334T>G c.348T>G (p.Ala116=) c.*457T>G (n.*457T>G) n.353T>G c.-37T>G (n.-37T>G) n.254T>G c.282T>G (p.Ala94=) | |
| 11 | g.68036282T= | CA1980451864 | NDUFS8 | c.402T= (p.Ala134=) c.334T= c.348T= (p.Ala116=) c.*457T= (n.*457T=) n.353T= c.-37T= (n.-37T=) n.254T= c.282T= (p.Ala94=) | |
| 11 | g.68036283G>A | CA381568859 | NDUFS8 | c.403G>A (p.Asp135Asn) c.335G>A c.349G>A (p.Asp117Asn) c.*458G>A (n.*458G>A) n.354G>A c.-36G>A (n.-36G>A) n.255G>A c.283G>A (p.Asp95Asn) | gnomAD v4 |
| 11 | g.68036283G>C | CA381568861 | NDUFS8 | c.403G>C (p.Asp135His) c.335G>C c.349G>C (p.Asp117His) c.*458G>C (n.*458G>C) n.354G>C c.-36G>C (n.-36G>C) n.255G>C c.283G>C (p.Asp95His) | |
| 11 | g.68036283G>T | CA381568864 | NDUFS8 | c.403G>T (p.Asp135Tyr) c.335G>T c.349G>T (p.Asp117Tyr) c.*458G>T (n.*458G>T) n.354G>T c.-36G>T (n.-36G>T) n.255G>T c.283G>T (p.Asp95Tyr) | |
| 11 | g.68036284A>C | CA381568872 | NDUFS8 | c.404A>C (p.Asp135Ala) c.336A>C c.350A>C (p.Asp117Ala) c.*459A>C (n.*459A>C) n.355A>C c.-35A>C (n.-35A>C) n.256A>C c.284A>C (p.Asp95Ala) | |
| 11 | g.68036284A>G | CA381568868 | NDUFS8 | c.404A>G (p.Asp135Gly) c.336A>G c.350A>G (p.Asp117Gly) c.*459A>G (n.*459A>G) n.355A>G c.-35A>G (n.-35A>G) n.256A>G c.284A>G (p.Asp95Gly) | gnomAD v4 |
| 11 | g.68036284A>T | CA381568867 | NDUFS8 | c.404A>T (p.Asp135Val) c.336A>T c.350A>T (p.Asp117Val) c.*459A>T (n.*459A>T) n.355A>T c.-35A>T (n.-35A>T) n.256A>T c.284A>T (p.Asp95Val) | |
| 11 | g.68036285T>A | CA381568875 | NDUFS8 | c.405T>A (p.Asp135Glu) c.337T>A c.351T>A (p.Asp117Glu) c.*460T>A (n.*460T>A) n.356T>A c.-34T>A (n.-34T>A) n.257T>A c.285T>A (p.Asp95Glu) | |
| 11 | g.68036285T>C | CA6146520 | NDUFS8 | c.405T>C (p.Asp135=) c.337T>C c.351T>C (p.Asp117=) c.*460T>C (n.*460T>C) n.356T>C c.-34T>C (n.-34T>C) n.257T>C c.285T>C (p.Asp95=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036285T>G | CA381568883 | NDUFS8 | c.405T>G (p.Asp135Glu) c.337T>G c.351T>G (p.Asp117Glu) c.*460T>G (n.*460T>G) n.356T>G c.-34T>G (n.-34T>G) n.257T>G c.285T>G (p.Asp95Glu) | |
| 11 | g.68036285T= | CA1980451866 | NDUFS8 | c.405T= (p.Asp135=) c.337T= c.351T= (p.Asp117=) c.*460T= (n.*460T=) n.356T= c.-34T= (n.-34T=) n.257T= c.285T= (p.Asp95=) | |
| 11 | g.68036286G>A | CA381568889 | NDUFS8 | c.406G>A (p.Gly136Ser) c.338G>A c.352G>A (p.Gly118Ser) c.*461G>A (n.*461G>A) n.357G>A c.-33G>A (n.-33G>A) n.258G>A c.286G>A (p.Gly96Ser) | |
| 11 | g.68036286G>C | CA381568891 | NDUFS8 | c.406G>C (p.Gly136Arg) c.338G>C c.352G>C (p.Gly118Arg) c.*461G>C (n.*461G>C) n.357G>C c.-33G>C (n.-33G>C) n.258G>C c.286G>C (p.Gly96Arg) | |
| 11 | g.68036286G>T | CA381568894 | NDUFS8 | c.406G>T (p.Gly136Cys) c.338G>T c.352G>T (p.Gly118Cys) c.*461G>T (n.*461G>T) n.357G>T c.-33G>T (n.-33G>T) n.258G>T c.286G>T (p.Gly96Cys) | |
| 11 | g.68036287G>A | CA381568898 | NDUFS8 | c.407G>A (p.Gly136Asp) c.339G>A c.353G>A (p.Gly118Asp) c.*462G>A (n.*462G>A) n.358G>A c.-32G>A (n.-32G>A) n.259G>A c.287G>A (p.Gly96Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68036287G>C | CA381568901 | NDUFS8 | c.407G>C (p.Gly136Ala) c.339G>C c.353G>C (p.Gly118Ala) c.*462G>C (n.*462G>C) n.358G>C c.-32G>C (n.-32G>C) n.259G>C c.287G>C (p.Gly96Ala) | |
| 11 | g.68036287G= | CA1980451868 | NDUFS8 | c.407G= (p.Gly136=) c.339G= c.353G= (p.Gly118=) c.*462G= (n.*462G=) n.358G= c.-32G= (n.-32G=) n.259G= c.287G= (p.Gly96=) | |
| 11 | g.68036287G>T | CA381568905 | NDUFS8 | c.407G>T (p.Gly136Val) c.339G>T c.353G>T (p.Gly118Val) c.*462G>T (n.*462G>T) n.358G>T c.-32G>T (n.-32G>T) n.259G>T c.287G>T (p.Gly96Val) | |
| 11 | g.68036288C>A | CA475441164 | NDUFS8 | c.408C>A (p.Gly136=) c.340C>A c.354C>A (p.Gly118=) c.*463C>A (n.*463C>A) n.359C>A c.-31C>A (n.-31C>A) n.260C>A c.288C>A (p.Gly96=) | |
| 11 | g.68036288C= | CA1980451870 | NDUFS8 | c.408C= (p.Gly136=) c.340C= c.354C= (p.Gly118=) c.*463C= (n.*463C=) n.359C= c.-31C= (n.-31C=) n.260C= c.288C= (p.Gly96=) | |
| 11 | g.68036288C>G | CA475441166 | NDUFS8 | c.408C>G (p.Gly136=) c.340C>G c.354C>G (p.Gly118=) c.*463C>G (n.*463C>G) n.359C>G c.-31C>G (n.-31C>G) n.260C>G c.288C>G (p.Gly96=) | |
| 11 | g.68036288C>T | CA224194827 | NDUFS8 | c.408C>T (p.Gly136=) c.340C>T c.354C>T (p.Gly118=) c.*463C>T (n.*463C>T) n.359C>T c.-31C>T (n.-31C>T) n.260C>T c.288C>T (p.Gly96=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68036289A>C | CA381568909 | NDUFS8 | c.409A>C (p.Ser137Arg) c.341A>C c.355A>C (p.Ser119Arg) c.*464A>C (n.*464A>C) n.360A>C c.-30A>C (n.-30A>C) n.261A>C c.289A>C (p.Ser97Arg) | |
| 11 | g.68036289A>G | CA381568912 | NDUFS8 | c.409A>G (p.Ser137Gly) c.341A>G c.355A>G (p.Ser119Gly) c.*464A>G (n.*464A>G) n.360A>G c.-30A>G (n.-30A>G) n.261A>G c.289A>G (p.Ser97Gly) | dbSNP |
| 11 | g.68036289A>T | CA381568916 | NDUFS8 | c.409A>T (p.Ser137Cys) c.341A>T c.355A>T (p.Ser119Cys) c.*464A>T (n.*464A>T) n.360A>T c.-30A>T (n.-30A>T) n.261A>T c.289A>T (p.Ser97Cys) | |
| 11 | g.68036290G>A | CA381568926 | NDUFS8 | c.410G>A (p.Ser137Asn) c.342G>A c.356G>A (p.Ser119Asn) c.*465G>A (n.*465G>A) n.361G>A c.-29G>A (n.-29G>A) n.262G>A c.290G>A (p.Ser97Asn) | |
| 11 | g.68036290G>C | CA381568923 | NDUFS8 | c.410G>C (p.Ser137Thr) c.342G>C c.356G>C (p.Ser119Thr) c.*465G>C (n.*465G>C) n.361G>C c.-29G>C (n.-29G>C) n.262G>C c.290G>C (p.Ser97Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036290G= | CA1980451872 | NDUFS8 | c.410G= (p.Ser137=) c.342G= c.356G= (p.Ser119=) c.*465G= (n.*465G=) n.361G= c.-29G= (n.-29G=) n.262G= c.290G= (p.Ser97=) | |
| 11 | g.68036290G>T | CA381568921 | NDUFS8 | c.410G>T (p.Ser137Ile) c.342G>T c.356G>T (p.Ser119Ile) c.*465G>T (n.*465G>T) n.361G>T c.-29G>T (n.-29G>T) n.262G>T c.290G>T (p.Ser97Ile) | |
| 11 | g.68036291C>A | CA381568930 | NDUFS8 | c.411C>A (p.Ser137Arg) c.343C>A c.357C>A (p.Ser119Arg) c.*466C>A (n.*466C>A) n.362C>A c.-28C>A (n.-28C>A) n.263C>A c.291C>A (p.Ser97Arg) | |
| 11 | g.68036291C>G | CA381568933 | NDUFS8 | c.411C>G (p.Ser137Arg) c.343C>G c.357C>G (p.Ser119Arg) c.*466C>G (n.*466C>G) n.362C>G c.-28C>G (n.-28C>G) n.263C>G c.291C>G (p.Ser97Arg) | gnomAD v4 |
| 11 | g.68036291C>T | CA475441183 | NDUFS8 | c.411C>T (p.Ser137=) c.343C>T c.357C>T (p.Ser119=) c.*466C>T (n.*466C>T) n.362C>T c.-28C>T (n.-28C>T) n.263C>T c.291C>T (p.Ser97=) | gnomAD v4 |
| 11 | g.68036291_68036292insTCG | CA2792527942 | NDUFS8 | c.411_412insTCG (p.Ser137_Arg138insSer) c.343_344insTCG c.357_358insTCG (p.Ser119_Arg120insSer) c.*466_*467insTCG (n.*466_*467insTCG) n.362_363insTCG c.-28_-27insTCG (n.-28_-27insTCG) n.263_264insTCG c.291_292insTCG (p.Ser97_Arg98insSer) | |
| 11 | g.68036292C>A | CA6146521 | NDUFS8 | c.412C>A (p.Arg138Ser) c.344C>A c.358C>A (p.Arg120Ser) c.*467C>A (n.*467C>A) n.363C>A c.-27C>A (n.-27C>A) n.264C>A c.292C>A (p.Arg98Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036292C= | CA1980451873 | NDUFS8 | c.412C= (p.Arg138=) c.344C= c.358C= (p.Arg120=) c.*467C= (n.*467C=) n.363C= c.-27C= (n.-27C=) n.264C= c.292C= (p.Arg98=) | |
| 11 | g.68036292C>G | CA381568938 | NDUFS8 | c.412C>G (p.Arg138Gly) c.344C>G c.358C>G (p.Arg120Gly) c.*467C>G (n.*467C>G) n.363C>G c.-27C>G (n.-27C>G) n.264C>G c.292C>G (p.Arg98Gly) | |
| 11 | g.68036292C>T | CA381568940 | NDUFS8 | c.412C>T (p.Arg138Cys) c.344C>T c.358C>T (p.Arg120Cys) c.*467C>T (n.*467C>T) n.363C>T c.-27C>T (n.-27C>T) n.264C>T c.292C>T (p.Arg98Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036293G>A | CA118857 | NDUFS8 | c.413G>A (p.Arg138His) c.345G>A c.359G>A (p.Arg120His) c.*468G>A (n.*468G>A) n.364G>A c.-26G>A (n.-26G>A) n.265G>A c.293G>A (p.Arg98His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036293G>C | CA381568956 | NDUFS8 | c.413G>C (p.Arg138Pro) c.345G>C c.359G>C (p.Arg120Pro) c.*468G>C (n.*468G>C) n.364G>C c.-26G>C (n.-26G>C) n.265G>C c.293G>C (p.Arg98Pro) | |
| 11 | g.68036293G= | CA1980451875 | NDUFS8 | c.413G= (p.Arg138=) c.345G= c.359G= (p.Arg120=) c.*468G= (n.*468G=) n.364G= c.-26G= (n.-26G=) n.265G= c.293G= (p.Arg98=) | |
| 11 | g.68036293G>T | CA381568945 | NDUFS8 | c.413G>T (p.Arg138Leu) c.345G>T c.359G>T (p.Arg120Leu) c.*468G>T (n.*468G>T) n.364G>T c.-26G>T (n.-26G>T) n.265G>T c.293G>T (p.Arg98Leu) | gnomAD v4 |
| 11 | g.68036294C>A | CA475441194 | NDUFS8 | c.414C>A (p.Arg138=) c.346C>A c.360C>A (p.Arg120=) c.*469C>A (n.*469C>A) n.365C>A c.-25C>A (n.-25C>A) n.266C>A c.294C>A (p.Arg98=) | |
| 11 | g.68036294C= | CA1980451878 | NDUFS8 | c.414C= (p.Arg138=) c.346C= c.360C= (p.Arg120=) c.*469C= (n.*469C=) n.365C= c.-25C= (n.-25C=) n.266C= c.294C= (p.Arg98=) | |
| 11 | g.68036294C>G | CA475441196 | NDUFS8 | c.414C>G (p.Arg138=) c.346C>G c.360C>G (p.Arg120=) c.*469C>G (n.*469C>G) n.365C>G c.-25C>G (n.-25C>G) n.266C>G c.294C>G (p.Arg98=) | dbSNP |
| 11 | g.68036294C>T | CA475441198 | NDUFS8 | c.414C>T (p.Arg138=) c.346C>T c.360C>T (p.Arg120=) c.*469C>T (n.*469C>T) n.365C>T c.-25C>T (n.-25C>T) n.266C>T c.294C>T (p.Arg98=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036295C>A | CA475441201 | NDUFS8 | c.415C>A (p.Arg139=) c.347C>A c.361C>A (p.Arg121=) c.*470C>A (n.*470C>A) n.366C>A c.-24C>A (n.-24C>A) n.267C>A c.295C>A (p.Arg99=) | |
| 11 | g.68036295C= | CA1980451879 | NDUFS8 | c.415C= (p.Arg139=) c.347C= c.361C= (p.Arg121=) c.*470C= (n.*470C=) n.366C= c.-24C= (n.-24C=) n.267C= c.295C= (p.Arg99=) | |
| 11 | g.68036295C>G | CA381568960 | NDUFS8 | c.415C>G (p.Arg139Gly) c.347C>G c.361C>G (p.Arg121Gly) c.*470C>G (n.*470C>G) n.366C>G c.-24C>G (n.-24C>G) n.267C>G c.295C>G (p.Arg99Gly) | |
| 11 | g.68036295C>T | CA6146522 | NDUFS8 | c.415C>T (p.Arg139Trp) c.347C>T c.361C>T (p.Arg121Trp) c.*470C>T (n.*470C>T) n.366C>T c.-24C>T (n.-24C>T) n.267C>T c.295C>T (p.Arg99Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036296G>A | CA6146523 | NDUFS8 | c.416G>A (p.Arg139Gln) c.348G>A c.362G>A (p.Arg121Gln) c.*471G>A (n.*471G>A) n.367G>A c.-23G>A (n.-23G>A) n.268G>A c.296G>A (p.Arg99Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036296G>C | CA381568967 | NDUFS8 | c.416G>C (p.Arg139Pro) c.348G>C c.362G>C (p.Arg121Pro) c.*471G>C (n.*471G>C) n.367G>C c.-23G>C (n.-23G>C) n.268G>C c.296G>C (p.Arg99Pro) | |
| 11 | g.68036296G= | CA1980451880 | NDUFS8 | c.416G= (p.Arg139=) c.348G= c.362G= (p.Arg121=) c.*471G= (n.*471G=) n.367G= c.-23G= (n.-23G=) n.268G= c.296G= (p.Arg99=) | |
| 11 | g.68036296G>T | CA381568972 | NDUFS8 | c.416G>T (p.Arg139Leu) c.348G>T c.362G>T (p.Arg121Leu) c.*471G>T (n.*471G>T) n.367G>T c.-23G>T (n.-23G>T) n.268G>T c.296G>T (p.Arg99Leu) | |
| 11 | g.68036297G>A | CA6146524 | NDUFS8 | c.417G>A (p.Arg139=) c.349G>A c.363G>A (p.Arg121=) c.*472G>A (n.*472G>A) n.368G>A c.-22G>A (n.-22G>A) n.269G>A c.297G>A (p.Arg99=) | dbSNP ExAC gnomAD v2 |
| 11 | g.68036297G>C | CA475441215 | NDUFS8 | c.417G>C (p.Arg139=) c.349G>C c.363G>C (p.Arg121=) c.*472G>C (n.*472G>C) n.368G>C c.-22G>C (n.-22G>C) n.269G>C c.297G>C (p.Arg99=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036297G= | CA1980451882 | NDUFS8 | c.417G= (p.Arg139=) c.349G= c.363G= (p.Arg121=) c.*472G= (n.*472G=) n.368G= c.-22G= (n.-22G=) n.269G= c.297G= (p.Arg99=) | |
| 11 | g.68036297G>T | CA475441213 | NDUFS8 | c.417G>T (p.Arg139=) c.349G>T c.363G>T (p.Arg121=) c.*472G>T (n.*472G>T) n.368G>T c.-22G>T (n.-22G>T) n.269G>T c.297G>T (p.Arg99=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.68036298A>C | CA381568978 | NDUFS8 | c.418A>C (p.Thr140Pro) c.350A>C c.364A>C (p.Thr122Pro) c.*473A>C (n.*473A>C) n.369A>C c.-21A>C (n.-21A>C) n.270A>C c.298A>C (p.Thr100Pro) | |
| 11 | g.68036298A>G | CA381568983 | NDUFS8 | c.418A>G (p.Thr140Ala) c.350A>G c.364A>G (p.Thr122Ala) c.*473A>G (n.*473A>G) n.369A>G c.-21A>G (n.-21A>G) n.270A>G c.298A>G (p.Thr100Ala) | |
| 11 | g.68036298A>T | CA381568981 | NDUFS8 | c.418A>T (p.Thr140Ser) c.350A>T c.364A>T (p.Thr122Ser) c.*473A>T (n.*473A>T) n.369A>T c.-21A>T (n.-21A>T) n.270A>T c.298A>T (p.Thr100Ser) | |
| 11 | g.68036299C>A | CA381568986 | NDUFS8 | c.419C>A (p.Thr140Asn) c.351C>A c.365C>A (p.Thr122Asn) c.*474C>A (n.*474C>A) n.370C>A c.-20C>A (n.-20C>A) n.271C>A c.299C>A (p.Thr100Asn) | |
| 11 | g.68036299C>G | CA381568989 | NDUFS8 | c.419C>G (p.Thr140Ser) c.351C>G c.365C>G (p.Thr122Ser) c.*474C>G (n.*474C>G) n.370C>G c.-20C>G (n.-20C>G) n.271C>G c.299C>G (p.Thr100Ser) | |
| 11 | g.68036299C>T | CA381569002 | NDUFS8 | c.419C>T (p.Thr140Ile) c.351C>T c.365C>T (p.Thr122Ile) c.*474C>T (n.*474C>T) n.370C>T c.-20C>T (n.-20C>T) n.271C>T c.299C>T (p.Thr100Ile) | |
| 11 | g.68036300C>A | CA475441234 | NDUFS8 | c.420C>A (p.Thr140=) c.352C>A c.366C>A (p.Thr122=) c.*475C>A (n.*475C>A) n.371C>A c.-19C>A (n.-19C>A) n.272C>A c.300C>A (p.Thr100=) | |
| 11 | g.68036300C= | CA1980451885 | NDUFS8 | c.420C= (p.Thr140=) c.352C= c.366C= (p.Thr122=) c.*475C= (n.*475C=) n.371C= c.-19C= (n.-19C=) n.272C= c.300C= (p.Thr100=) | |
| 11 | g.68036300C>G | CA475441231 | NDUFS8 | c.420C>G (p.Thr140=) c.352C>G c.366C>G (p.Thr122=) c.*475C>G (n.*475C>G) n.371C>G c.-19C>G (n.-19C>G) n.272C>G c.300C>G (p.Thr100=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036300C>T | CA475441229 | NDUFS8 | c.420C>T (p.Thr140=) c.352C>T c.366C>T (p.Thr122=) c.*475C>T (n.*475C>T) n.371C>T c.-19C>T (n.-19C>T) n.272C>T c.300C>T (p.Thr100=) | |
| 11 | g.68036301A= | CA1980451887 | NDUFS8 | c.421A= (p.Thr141=) c.353A= c.367A= (p.Thr123=) c.*476A= (n.*476A=) n.372A= c.-18A= (n.-18A=) n.273A= c.301A= (p.Thr101=) | |
| 11 | g.68036301A>C | CA381569006 | NDUFS8 | c.421A>C (p.Thr141Pro) c.353A>C c.367A>C (p.Thr123Pro) c.*476A>C (n.*476A>C) n.372A>C c.-18A>C (n.-18A>C) n.273A>C c.301A>C (p.Thr101Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68036301A>G | CA381569008 | NDUFS8 | c.421A>G (p.Thr141Ala) c.353A>G c.367A>G (p.Thr123Ala) c.*476A>G (n.*476A>G) n.372A>G c.-18A>G (n.-18A>G) n.273A>G c.301A>G (p.Thr101Ala) | |
| 11 | g.68036301A>T | CA381569010 | NDUFS8 | c.421A>T (p.Thr141Ser) c.353A>T c.367A>T (p.Thr123Ser) c.*476A>T (n.*476A>T) n.372A>T c.-18A>T (n.-18A>T) n.273A>T c.301A>T (p.Thr101Ser) | |
| 11 | g.68036302C>A | CA381569014 | NDUFS8 | c.422C>A (p.Thr141Asn) c.354C>A c.368C>A (p.Thr123Asn) c.*477C>A (n.*477C>A) c.-17C>A (n.-17C>A) n.274C>A c.302C>A (p.Thr101Asn) | |
| 11 | g.68036302C>G | CA381569017 | NDUFS8 | c.422C>G (p.Thr141Ser) c.354C>G c.368C>G (p.Thr123Ser) c.*477C>G (n.*477C>G) c.-17C>G (n.-17C>G) n.274C>G c.302C>G (p.Thr101Ser) | |
| 11 | g.68036302C>T | CA381569020 | NDUFS8 | c.422C>T (p.Thr141Ile) c.354C>T c.368C>T (p.Thr123Ile) c.*477C>T (n.*477C>T) c.-17C>T (n.-17C>T) n.274C>T c.302C>T (p.Thr101Ile) | gnomAD v4 |
| 11 | g.68036302_68036303insGGT | CA2792527943 | NDUFS8 | c.422_423insGGT (p.Thr141_Arg142insVal) c.354_355insGGT c.368_369insGGT (p.Thr123_Arg124insVal) c.*477_*478insGGT (n.*477_*478insGGT) c.-17_-16insGGT (n.-17_-16insGGT) n.274_275insGGT c.302_303insGGT (p.Thr101_Arg102insVal) | |
| 11 | g.68036303C>A | CA475441247 | NDUFS8 | c.423C>A (p.Thr141=) c.355C>A c.369C>A (p.Thr123=) c.*478C>A (n.*478C>A) c.-16C>A (n.-16C>A) n.275C>A c.303C>A (p.Thr101=) | |
| 11 | g.68036303C= | CA1980451888 | NDUFS8 | c.423C= (p.Thr141=) c.355C= c.369C= (p.Thr123=) c.*478C= (n.*478C=) c.-16C= (n.-16C=) n.275C= c.303C= (p.Thr101=) | |
| 11 | g.68036303C>G | CA475441251 | NDUFS8 | c.423C>G (p.Thr141=) c.355C>G c.369C>G (p.Thr123=) c.*478C>G (n.*478C>G) c.-16C>G (n.-16C>G) n.275C>G c.303C>G (p.Thr101=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036303C>T | CA6146525 | NDUFS8 | c.423C>T (p.Thr141=) c.355C>T c.369C>T (p.Thr123=) c.*478C>T (n.*478C>T) c.-16C>T (n.-16C>T) n.275C>T c.303C>T (p.Thr101=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036304C>A | CA381569029 | NDUFS8 | c.424C>A (p.Arg142Ser) c.356C>A c.370C>A (p.Arg124Ser) c.*479C>A (n.*479C>A) c.-15C>A (n.-15C>A) n.276C>A c.304C>A (p.Arg102Ser) | gnomAD v4 |
| 11 | g.68036304C= | CA1980451889 | NDUFS8 | c.424C= (p.Arg142=) c.356C= c.370C= (p.Arg124=) c.*479C= (n.*479C=) c.-15C= (n.-15C=) n.276C= c.304C= (p.Arg102=) | |
| 11 | g.68036304C>G | CA381569027 | NDUFS8 | c.424C>G (p.Arg142Gly) c.356C>G c.370C>G (p.Arg124Gly) c.*479C>G (n.*479C>G) c.-15C>G (n.-15C>G) n.276C>G c.304C>G (p.Arg102Gly) | gnomAD v4 |
| 11 | g.68036304C>T | CA224194861 | NDUFS8 | c.424C>T (p.Arg142Cys) c.356C>T c.370C>T (p.Arg124Cys) c.*479C>T (n.*479C>T) c.-15C>T (n.-15C>T) n.276C>T c.304C>T (p.Arg102Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.68036305G>A | CA6146526 | NDUFS8 | c.425G>A (p.Arg142His) c.357G>A c.371G>A (p.Arg124His) c.*480G>A (n.*480G>A) c.-14G>A (n.-14G>A) n.277G>A c.305G>A (p.Arg102His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036305G>C | CA381569033 | NDUFS8 | c.425G>C (p.Arg142Pro) c.357G>C c.371G>C (p.Arg124Pro) c.*480G>C (n.*480G>C) c.-14G>C (n.-14G>C) n.277G>C c.305G>C (p.Arg102Pro) | |
| 11 | g.68036305G= | CA1980451890 | NDUFS8 | c.425G= (p.Arg142=) c.357G= c.371G= (p.Arg124=) c.*480G= (n.*480G=) c.-14G= (n.-14G=) n.277G= c.305G= (p.Arg102=) | |
| 11 | g.68036305G>T | CA381569036 | NDUFS8 | c.425G>T (p.Arg142Leu) c.357G>T c.371G>T (p.Arg124Leu) c.*480G>T (n.*480G>T) c.-14G>T (n.-14G>T) n.277G>T c.305G>T (p.Arg102Leu) | gnomAD v4 |
| 11 | g.68036306C>A | CA475441265 | NDUFS8 | c.426C>A (p.Arg142=) c.358C>A c.372C>A (p.Arg124=) c.*481C>A (n.*481C>A) c.-13C>A (n.-13C>A) n.278C>A c.306C>A (p.Arg102=) | |
| 11 | g.68036306C= | CA1980451891 | NDUFS8 | c.426C= (p.Arg142=) c.358C= c.372C= (p.Arg124=) c.*481C= (n.*481C=) c.-13C= (n.-13C=) n.278C= c.306C= (p.Arg102=) | |
| 11 | g.68036306C>G | CA6146527 | NDUFS8 | c.426C>G (p.Arg142=) c.358C>G c.372C>G (p.Arg124=) c.*481C>G (n.*481C>G) c.-13C>G (n.-13C>G) n.278C>G c.306C>G (p.Arg102=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036306C>T | CA475441268 | NDUFS8 | c.426C>T (p.Arg142=) c.358C>T c.372C>T (p.Arg124=) c.*481C>T (n.*481C>T) c.-13C>T (n.-13C>T) n.278C>T c.306C>T (p.Arg102=) | dbSNP gnomAD v4 |
| 11 | g.68036307T>A | CA381569041 | NDUFS8 | c.427T>A (p.Tyr143Asn) c.359T>A c.373T>A (p.Tyr125Asn) c.*482T>A (n.*482T>A) c.-12T>A (n.-12T>A) n.279T>A c.307T>A (p.Tyr103Asn) | |
| 11 | g.68036307T>C | CA381569044 | NDUFS8 | c.427T>C (p.Tyr143His) c.359T>C c.373T>C (p.Tyr125His) c.*482T>C (n.*482T>C) c.-12T>C (n.-12T>C) n.279T>C c.307T>C (p.Tyr103His) | COSMIC |
| 11 | g.68036307T>G | CA381569047 | NDUFS8 | c.427T>G (p.Tyr143Asp) c.359T>G c.373T>G (p.Tyr125Asp) c.*482T>G (n.*482T>G) c.-12T>G (n.-12T>G) n.279T>G c.307T>G (p.Tyr103Asp) | |
| 11 | g.68036308A= | CA1980451893 | NDUFS8 | c.428A= (p.Tyr143=) c.360A= c.374A= (p.Tyr125=) c.*483A= (n.*483A=) c.-11A= (n.-11A=) n.280A= c.308A= (p.Tyr103=) | |
| 11 | g.68036308A>C | CA381569054 | NDUFS8 | c.428A>C (p.Tyr143Ser) c.360A>C c.374A>C (p.Tyr125Ser) c.*483A>C (n.*483A>C) c.-11A>C (n.-11A>C) n.280A>C c.308A>C (p.Tyr103Ser) | |
| 11 | g.68036308A>G | CA381569051 | NDUFS8 | c.428A>G (p.Tyr143Cys) c.360A>G c.374A>G (p.Tyr125Cys) c.*483A>G (n.*483A>G) c.-11A>G (n.-11A>G) n.280A>G c.308A>G (p.Tyr103Cys) | gnomAD v4 |
| 11 | g.68036308A>T | CA322246 | NDUFS8 | c.428A>T (p.Tyr143Phe) c.360A>T c.374A>T (p.Tyr125Phe) c.*483A>T (n.*483A>T) c.-11A>T (n.-11A>T) n.280A>T c.308A>T (p.Tyr103Phe) | ClinVar dbSNP |
| 11 | g.68036309T>A | CA381569058 | NDUFS8 | c.429T>A (p.Tyr143Ter) c.361T>A c.375T>A (p.Tyr125Ter) c.*484T>A (n.*484T>A) c.-10T>A (n.-10T>A) n.281T>A c.309T>A (p.Tyr103Ter) | |
| 11 | g.68036309T>C | CA6146528 | NDUFS8 | c.429T>C (p.Tyr143=) c.361T>C c.375T>C (p.Tyr125=) c.*484T>C (n.*484T>C) c.-10T>C (n.-10T>C) n.281T>C c.309T>C (p.Tyr103=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036309T>G | CA381569061 | NDUFS8 | c.429T>G (p.Tyr143Ter) c.361T>G c.375T>G (p.Tyr125Ter) c.*484T>G (n.*484T>G) c.-10T>G (n.-10T>G) n.281T>G c.309T>G (p.Tyr103Ter) | |
| 11 | g.68036309T= | CA1980451894 | NDUFS8 | c.429T= (p.Tyr143=) c.361T= c.375T= (p.Tyr125=) c.*484T= (n.*484T=) c.-10T= (n.-10T=) n.281T= c.309T= (p.Tyr103=) | |
| 11 | g.68036309_68036315delinsTGACATC | CA1980451895 | NDUFS8 | c.429_435delinsTGACATC (p.Tyr143=) c.361_367delinsTGACATC c.375_381delinsTGACATC (p.Tyr125=) c.*484_*490delinsTGACATC (n.*484_*490delinsTGACATC) c.-10_-4delinsTGACATC (n.-10_-4delinsTGACATC) n.281_287delinsTGACATC c.309_315delinsTGACATC (p.Tyr103=) | |
| 11 | g.68036310G>A | CA381569064 | NDUFS8 | c.430G>A (p.Asp144Asn) c.362G>A c.376G>A (p.Asp126Asn) c.*485G>A (n.*485G>A) c.-9G>A (n.-9G>A) n.282G>A c.310G>A (p.Asp104Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68036310G>C | CA381569068 | NDUFS8 | c.430G>C (p.Asp144His) c.362G>C c.376G>C (p.Asp126His) c.*485G>C (n.*485G>C) c.-9G>C (n.-9G>C) n.282G>C c.310G>C (p.Asp104His) | |
| 11 | g.68036310G= | CA1980451896 | NDUFS8 | c.430G= (p.Asp144=) c.362G= c.376G= (p.Asp126=) c.*485G= (n.*485G=) c.-9G= (n.-9G=) n.282G= c.310G= (p.Asp104=) | |
| 11 | g.68036310G>T | CA381569070 | NDUFS8 | c.430G>T (p.Asp144Tyr) c.362G>T c.376G>T (p.Asp126Tyr) c.*485G>T (n.*485G>T) c.-9G>T (n.-9G>T) n.282G>T c.310G>T (p.Asp104Tyr) | |
| 11 | g.68036315_68036320del | CA679544341 | NDUFS8 | c.435_440del (p.Ile145_Asp146del) c.367_372del c.381_386del (p.Ile127_Asp128del) c.*490_*495del (n.*490_*495del) c.-4_2del (n.-4_2del) n.287_292del c.315_320del (p.Ile105_Asp106del) | dbSNP |
| 11 | g.68036311A>C | CA381569082 | NDUFS8 | c.431A>C (p.Asp144Ala) c.363A>C c.377A>C (p.Asp126Ala) c.*486A>C (n.*486A>C) c.-8A>C (n.-8A>C) n.283A>C c.311A>C (p.Asp104Ala) | |
| 11 | g.68036311A>G | CA381569089 | NDUFS8 | c.431A>G (p.Asp144Gly) c.363A>G c.377A>G (p.Asp126Gly) c.*486A>G (n.*486A>G) c.-8A>G (n.-8A>G) n.283A>G c.311A>G (p.Asp104Gly) | |
| 11 | g.68036311A>T | CA381569088 | NDUFS8 | c.431A>T (p.Asp144Val) c.363A>T c.377A>T (p.Asp126Val) c.*486A>T (n.*486A>T) c.-8A>T (n.-8A>T) n.283A>T c.311A>T (p.Asp104Val) | |
| 11 | g.68036312C>A | CA381569091 | NDUFS8 | c.432C>A (p.Asp144Glu) c.364C>A c.378C>A (p.Asp126Glu) c.*487C>A (n.*487C>A) c.-7C>A (n.-7C>A) n.284C>A c.312C>A (p.Asp104Glu) | |
| 11 | g.68036312C= | CA1980451900 | NDUFS8 | c.432C= (p.Asp144=) c.364C= c.378C= (p.Asp126=) c.*487C= (n.*487C=) c.-7C= (n.-7C=) n.284C= c.312C= (p.Asp104=) | |
| 11 | g.68036312C>G | CA381569094 | NDUFS8 | c.432C>G (p.Asp144Glu) c.364C>G c.378C>G (p.Asp126Glu) c.*487C>G (n.*487C>G) c.-7C>G (n.-7C>G) n.284C>G c.312C>G (p.Asp104Glu) | |
| 11 | g.68036312C>T | CA6146529 | NDUFS8 | c.432C>T (p.Asp144=) c.364C>T c.378C>T (p.Asp126=) c.*487C>T (n.*487C>T) c.-7C>T (n.-7C>T) n.284C>T c.312C>T (p.Asp104=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036313A= | CA1980451901 | NDUFS8 | c.433A= (p.Ile145=) c.365A= c.379A= (p.Ile127=) c.*488A= (n.*488A=) c.-6A= (n.-6A=) n.285A= c.313A= (p.Ile105=) | |
| 11 | g.68036313A>C | CA381569097 | NDUFS8 | c.433A>C (p.Ile145Leu) c.365A>C c.379A>C (p.Ile127Leu) c.*488A>C (n.*488A>C) c.-6A>C (n.-6A>C) n.285A>C c.313A>C (p.Ile105Leu) | |
| 11 | g.68036313A>G | CA6146530 | NDUFS8 | c.433A>G (p.Ile145Val) c.365A>G c.379A>G (p.Ile127Val) c.*488A>G (n.*488A>G) c.-6A>G (n.-6A>G) n.285A>G c.313A>G (p.Ile105Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036313A>T | CA381569100 | NDUFS8 | c.433A>T (p.Ile145Phe) c.365A>T c.379A>T (p.Ile127Phe) c.*488A>T (n.*488A>T) c.-6A>T (n.-6A>T) n.285A>T c.313A>T (p.Ile105Phe) | |
| 11 | g.68036314T>A | CA381569103 | NDUFS8 | c.434T>A (p.Ile145Asn) c.366T>A c.380T>A (p.Ile127Asn) c.*489T>A (n.*489T>A) c.-5T>A (n.-5T>A) n.286T>A c.314T>A (p.Ile105Asn) | |
| 11 | g.68036314T>C | CA381569106 | NDUFS8 | c.434T>C (p.Ile145Thr) c.366T>C c.380T>C (p.Ile127Thr) c.*489T>C (n.*489T>C) c.-5T>C (n.-5T>C) n.286T>C c.314T>C (p.Ile105Thr) | dbSNP gnomAD v4 |
| 11 | g.68036314T>G | CA381569107 | NDUFS8 | c.434T>G (p.Ile145Ser) c.366T>G c.380T>G (p.Ile127Ser) c.*489T>G (n.*489T>G) c.-5T>G (n.-5T>G) n.286T>G c.314T>G (p.Ile105Ser) | |
| 11 | g.68036314T= | CA1980451902 | NDUFS8 | c.434T= (p.Ile145=) c.366T= c.380T= (p.Ile127=) c.*489T= (n.*489T=) c.-5T= (n.-5T=) n.286T= c.314T= (p.Ile105=) | |
| 11 | g.68036315C>A | CA6146531 | NDUFS8 | c.435C>A (p.Ile145=) c.367C>A c.381C>A (p.Ile127=) c.*490C>A (n.*490C>A) c.-4C>A (n.-4C>A) n.287C>A c.315C>A (p.Ile105=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036315C= | CA1980451903 | NDUFS8 | c.435C= (p.Ile145=) c.367C= c.381C= (p.Ile127=) c.*490C= (n.*490C=) c.-4C= (n.-4C=) n.287C= c.315C= (p.Ile105=) | |
| 11 | g.68036315C>G | CA381569112 | NDUFS8 | c.435C>G (p.Ile145Met) c.367C>G c.381C>G (p.Ile127Met) c.*490C>G (n.*490C>G) c.-4C>G (n.-4C>G) n.287C>G c.315C>G (p.Ile105Met) | |
| 11 | g.68036315C>T | CA6146532 | NDUFS8 | c.435C>T (p.Ile145=) c.367C>T c.381C>T (p.Ile127=) c.*490C>T (n.*490C>T) c.-4C>T (n.-4C>T) n.287C>T c.315C>T (p.Ile105=) | dbSNP ExAC gnomAD v4 COSMIC |
| 11 | g.68036316G>A | CA6146533 | NDUFS8 | c.436G>A (p.Asp146Asn) c.368G>A c.382G>A (p.Asp128Asn) c.*491G>A (n.*491G>A) c.-3G>A (n.-3G>A) n.288G>A c.316G>A (p.Asp106Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.68036316G>C | CA381569124 | NDUFS8 | c.436G>C (p.Asp146His) c.368G>C c.382G>C (p.Asp128His) c.*491G>C (n.*491G>C) c.-3G>C (n.-3G>C) n.288G>C c.316G>C (p.Asp106His) | |
| 11 | g.68036316G= | CA1980451906 | NDUFS8 | c.436G= (p.Asp146=) c.368G= c.382G= (p.Asp128=) c.*491G= (n.*491G=) c.-3G= (n.-3G=) n.288G= c.316G= (p.Asp106=) | |
| 11 | g.68036316G>T | CA381569122 | NDUFS8 | c.436G>T (p.Asp146Tyr) c.368G>T c.382G>T (p.Asp128Tyr) c.*491G>T (n.*491G>T) c.-3G>T (n.-3G>T) n.288G>T c.316G>T (p.Asp106Tyr) | |
| 11 | g.68036317A>C | CA381569128 | NDUFS8 | c.437A>C (p.Asp146Ala) c.369A>C c.383A>C (p.Asp128Ala) c.*492A>C (n.*492A>C) c.-2A>C (n.-2A>C) n.289A>C c.317A>C (p.Asp106Ala) | |
| 11 | g.68036317A>G | CA381569131 | NDUFS8 | c.437A>G (p.Asp146Gly) c.369A>G c.383A>G (p.Asp128Gly) c.*492A>G (n.*492A>G) c.-2A>G (n.-2A>G) n.289A>G c.317A>G (p.Asp106Gly) | |
| 11 | g.68036317A>T | CA381569134 | NDUFS8 | c.437A>T (p.Asp146Val) c.369A>T c.383A>T (p.Asp128Val) c.*492A>T (n.*492A>T) c.-2A>T (n.-2A>T) n.289A>T c.317A>T (p.Asp106Val) | |
| 11 | g.68036318C>A | CA381569136 | NDUFS8 | c.438C>A (p.Asp146Glu) c.370C>A c.384C>A (p.Asp128Glu) c.*493C>A (n.*493C>A) c.-1C>A (n.-1C>A) n.290C>A c.318C>A (p.Asp106Glu) | |
| 11 | g.68036318C>G | CA381569138 | NDUFS8 | c.438C>G (p.Asp146Glu) c.370C>G c.384C>G (p.Asp128Glu) c.*493C>G (n.*493C>G) c.-1C>G (n.-1C>G) n.290C>G c.318C>G (p.Asp106Glu) | |
| 11 | g.68036318C>T | CA475441325 | NDUFS8 | c.438C>T (p.Asp146=) c.370C>T c.384C>T (p.Asp128=) c.*493C>T (n.*493C>T) c.-1C>T (n.-1C>T) n.290C>T c.318C>T (p.Asp106=) | gnomAD v4 |
| 11 | g.68036319A= | CA1980451908 | NDUFS8 | c.439A= (p.Met147=) c.371A= c.385A= (p.Met129=) c.*494A= (n.*494A=) c.1A= (p.Met1=) n.291A= c.319A= (p.Met107=) | |
| 11 | g.68036319A>C | CA381569152 | NDUFS8 | c.439A>C (p.Met147Leu) c.371A>C c.385A>C (p.Met129Leu) c.*494A>C (n.*494A>C) c.1A>C (p.Met1Leu) n.291A>C c.319A>C (p.Met107Leu) | dbSNP |
| 11 | g.68036319A>G | CA381569149 | NDUFS8 | c.439A>G (p.Met147Val) c.371A>G c.385A>G (p.Met129Val) c.*494A>G (n.*494A>G) c.1A>G (p.Met1Val) n.291A>G c.319A>G (p.Met107Val) | |
| 11 | g.68036319A>T | CA381569147 | NDUFS8 | c.439A>T (p.Met147Leu) c.371A>T c.385A>T (p.Met129Leu) c.*494A>T (n.*494A>T) c.1A>T (p.Met1Leu) n.291A>T c.319A>T (p.Met107Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036320T>A | CA381569156 | NDUFS8 | c.440T>A (p.Met147Lys) c.372T>A c.386T>A (p.Met129Lys) c.*495T>A (n.*495T>A) c.2T>A (p.Met1Lys) n.292T>A c.320T>A (p.Met107Lys) | |
| 11 | g.68036320T>C | CA381569162 | NDUFS8 | c.440T>C (p.Met147Thr) c.372T>C c.386T>C (p.Met129Thr) c.*495T>C (n.*495T>C) c.2T>C (p.Met1Thr) n.292T>C c.320T>C (p.Met107Thr) | |
| 11 | g.68036320T>G | CA381569165 | NDUFS8 | c.440T>G (p.Met147Arg) c.372T>G c.386T>G (p.Met129Arg) c.*495T>G (n.*495T>G) c.2T>G (p.Met1Arg) n.292T>G c.320T>G (p.Met107Arg) | |
| 11 | g.68036321G>A | CA381569169 | NDUFS8 | c.441G>A (p.Met147Ile) c.373G>A c.387G>A (p.Met129Ile) c.*496G>A (n.*496G>A) c.3G>A (p.Met1Ile) n.293G>A c.321G>A (p.Met107Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036321G>C | CA381569172 | NDUFS8 | c.441G>C (p.Met147Ile) c.373G>C c.387G>C (p.Met129Ile) c.*496G>C (n.*496G>C) c.3G>C (p.Met1Ile) n.293G>C c.321G>C (p.Met107Ile) | ClinVar dbSNP |
| 11 | g.68036321G= | CA1980451910 | NDUFS8 | c.441G= (p.Met147=) c.373G= c.387G= (p.Met129=) c.*496G= (n.*496G=) c.3G= (p.Met1=) n.293G= c.321G= (p.Met107=) | |
| 11 | g.68036321G>T | CA381569174 | NDUFS8 | c.441G>T (p.Met147Ile) c.373G>T c.387G>T (p.Met129Ile) c.*496G>T (n.*496G>T) c.3G>T (p.Met1Ile) n.293G>T c.321G>T (p.Met107Ile) | gnomAD v4 |
| 11 | g.68036322A= | CA1980451912 | NDUFS8 | c.442A= (p.Thr148=) c.374A= c.388A= (p.Thr130=) c.*497A= (n.*497A=) c.4A= (p.Thr2=) n.294A= c.322A= (p.Thr108=) | |
| 11 | g.68036322A>C | CA381569176 | NDUFS8 | c.442A>C (p.Thr148Pro) c.374A>C c.388A>C (p.Thr130Pro) c.*497A>C (n.*497A>C) c.4A>C (p.Thr2Pro) n.294A>C c.322A>C (p.Thr108Pro) | |
| 11 | g.68036322A>G | CA381569183 | NDUFS8 | c.442A>G (p.Thr148Ala) c.374A>G c.388A>G (p.Thr130Ala) c.*497A>G (n.*497A>G) c.4A>G (p.Thr2Ala) n.294A>G c.322A>G (p.Thr108Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68036322A>T | CA381569179 | NDUFS8 | c.442A>T (p.Thr148Ser) c.374A>T c.388A>T (p.Thr130Ser) c.*497A>T (n.*497A>T) c.4A>T (p.Thr2Ser) n.294A>T c.322A>T (p.Thr108Ser) | dbSNP |
| 11 | g.68036323C>A | CA381569187 | NDUFS8 | c.443C>A (p.Thr148Asn) c.375C>A c.389C>A (p.Thr130Asn) c.*498C>A (n.*498C>A) c.5C>A (p.Thr2Asn) n.295C>A c.323C>A (p.Thr108Asn) | |
| 11 | g.68036323C= | CA1980451914 | NDUFS8 | c.443C= (p.Thr148=) c.375C= c.389C= (p.Thr130=) c.*498C= (n.*498C=) c.5C= (p.Thr2=) n.295C= c.323C= (p.Thr108=) | |
| 11 | g.68036323C>G | CA381569189 | NDUFS8 | c.443C>G (p.Thr148Ser) c.375C>G c.389C>G (p.Thr130Ser) c.*498C>G (n.*498C>G) c.5C>G (p.Thr2Ser) n.295C>G c.323C>G (p.Thr108Ser) | |
| 11 | g.68036323C>T | CA381569190 | NDUFS8 | c.443C>T (p.Thr148Ile) c.375C>T c.389C>T (p.Thr130Ile) c.*498C>T (n.*498C>T) c.5C>T (p.Thr2Ile) n.295C>T c.323C>T (p.Thr108Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68036324C>A | CA475441355 | NDUFS8 | c.444C>A (p.Thr148=) c.376C>A c.390C>A (p.Thr130=) c.*499C>A (n.*499C>A) c.6C>A (p.Thr2=) n.296C>A c.324C>A (p.Thr108=) | |
| 11 | g.68036324C= | CA1980451916 | NDUFS8 | c.444C= (p.Thr148=) c.376C= c.390C= (p.Thr130=) c.*499C= (n.*499C=) c.6C= (p.Thr2=) n.296C= c.324C= (p.Thr108=) | |
| 11 | g.68036324C>G | CA475441352 | NDUFS8 | c.444C>G (p.Thr148=) c.376C>G c.390C>G (p.Thr130=) c.*499C>G (n.*499C>G) c.6C>G (p.Thr2=) n.296C>G c.324C>G (p.Thr108=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036324C>T | CA475441354 | NDUFS8 | c.444C>T (p.Thr148=) c.376C>T c.390C>T (p.Thr130=) c.*499C>T (n.*499C>T) c.6C>T (p.Thr2=) n.296C>T c.324C>T (p.Thr108=) | gnomAD v4 |
| 11 | g.68036325A>C | CA381569193 | NDUFS8 | c.445A>C (p.Lys149Gln) c.377A>C c.391A>C (p.Lys131Gln) c.*500A>C (n.*500A>C) c.7A>C (p.Lys3Gln) n.297A>C c.325A>C (p.Lys109Gln) | |
| 11 | g.68036325A>G | CA381569196 | NDUFS8 | c.445A>G (p.Lys149Glu) c.377A>G c.391A>G (p.Lys131Glu) c.*500A>G (n.*500A>G) c.7A>G (p.Lys3Glu) n.297A>G c.325A>G (p.Lys109Glu) | |
| 11 | g.68036325A>T | CA381569199 | NDUFS8 | c.445A>T (p.Lys149Ter) c.377A>T c.391A>T (p.Lys131Ter) c.*500A>T (n.*500A>T) c.7A>T (p.Lys3Ter) n.297A>T c.325A>T (p.Lys109Ter) | |
| 11 | g.68036326A>C | CA381569201 | NDUFS8 | c.446A>C (p.Lys149Thr) c.378A>C c.392A>C (p.Lys131Thr) c.*501A>C (n.*501A>C) c.8A>C (p.Lys3Thr) n.298A>C c.326A>C (p.Lys109Thr) | |
| 11 | g.68036326A>G | CA381569203 | NDUFS8 | c.446A>G (p.Lys149Arg) c.378A>G c.392A>G (p.Lys131Arg) c.*501A>G (n.*501A>G) c.8A>G (p.Lys3Arg) n.298A>G c.326A>G (p.Lys109Arg) | |
| 11 | g.68036326A>T | CA381569205 | NDUFS8 | c.446A>T (p.Lys149Met) c.378A>T c.392A>T (p.Lys131Met) c.*501A>T (n.*501A>T) c.8A>T (p.Lys3Met) n.298A>T c.326A>T (p.Lys109Met) | |
| 11 | g.68036327G>A | CA475441367 | NDUFS8 | c.447G>A (p.Lys149=) c.379G>A c.393G>A (p.Lys131=) c.*502G>A (n.*502G>A) c.9G>A (p.Lys3=) n.299G>A c.327G>A (p.Lys109=) | dbSNP |
| 11 | g.68036327G>C | CA381569207 | NDUFS8 | c.447G>C (p.Lys149Asn) c.379G>C c.393G>C (p.Lys131Asn) c.*502G>C (n.*502G>C) c.9G>C (p.Lys3Asn) n.299G>C c.327G>C (p.Lys109Asn) | |
| 11 | g.68036327G= | CA1980451917 | NDUFS8 | c.447G= (p.Lys149=) c.379G= c.393G= (p.Lys131=) c.*502G= (n.*502G=) c.9G= (p.Lys3=) n.299G= c.327G= (p.Lys109=) | |
| 11 | g.68036327G>T | CA381569209 | NDUFS8 | c.447G>T (p.Lys149Asn) c.379G>T c.393G>T (p.Lys131Asn) c.*502G>T (n.*502G>T) c.9G>T (p.Lys3Asn) n.299G>T c.327G>T (p.Lys109Asn) | |
| 11 | g.68036328T>A | CA381569212 | NDUFS8 | c.448T>A (p.Cys150Ser) c.380T>A c.394T>A (p.Cys132Ser) c.*503T>A (n.*503T>A) c.10T>A (p.Cys4Ser) n.300T>A c.328T>A (p.Cys110Ser) | |
| 11 | g.68036328T>C | CA381569217 | NDUFS8 | c.448T>C (p.Cys150Arg) c.380T>C c.394T>C (p.Cys132Arg) c.*503T>C (n.*503T>C) c.10T>C (p.Cys4Arg) n.300T>C c.328T>C (p.Cys110Arg) | |
| 11 | g.68036328T>G | CA381569214 | NDUFS8 | c.448T>G (p.Cys150Gly) c.380T>G c.394T>G (p.Cys132Gly) c.*503T>G (n.*503T>G) c.10T>G (p.Cys4Gly) n.300T>G c.328T>G (p.Cys110Gly) | |
| 11 | g.68036329G>A | CA381569220 | NDUFS8 | c.449G>A (p.Cys150Tyr) c.381G>A c.395G>A (p.Cys132Tyr) c.*504G>A (n.*504G>A) c.11G>A (p.Cys4Tyr) n.301G>A c.329G>A (p.Cys110Tyr) | dbSNP |
| 11 | g.68036329G>C | CA381569226 | NDUFS8 | c.449G>C (p.Cys150Ser) c.381G>C c.395G>C (p.Cys132Ser) c.*504G>C (n.*504G>C) c.11G>C (p.Cys4Ser) n.301G>C c.329G>C (p.Cys110Ser) | |
| 11 | g.68036329G= | CA1980451919 | NDUFS8 | c.449G= (p.Cys150=) c.381G= c.395G= (p.Cys132=) c.*504G= (n.*504G=) c.11G= (p.Cys4=) n.301G= c.329G= (p.Cys110=) | |
| 11 | g.68036329G>T | CA381569223 | NDUFS8 | c.449G>T (p.Cys150Phe) c.381G>T c.395G>T (p.Cys132Phe) c.*504G>T (n.*504G>T) c.11G>T (p.Cys4Phe) n.301G>T c.329G>T (p.Cys110Phe) | |
| 11 | g.68036330C>A | CA381569228 | NDUFS8 | c.450C>A (p.Cys150Ter) c.382C>A c.396C>A (p.Cys132Ter) c.*505C>A (n.*505C>A) c.12C>A (p.Cys4Ter) n.302C>A c.330C>A (p.Cys110Ter) | |
| 11 | g.68036330C= | CA1980451922 | NDUFS8 | c.450C= (p.Cys150=) c.382C= c.396C= (p.Cys132=) c.*505C= (n.*505C=) c.12C= (p.Cys4=) n.302C= c.330C= (p.Cys110=) | |
| 11 | g.68036330C>G | CA381569230 | NDUFS8 | c.450C>G (p.Cys150Trp) c.382C>G c.396C>G (p.Cys132Trp) c.*505C>G (n.*505C>G) c.12C>G (p.Cys4Trp) n.302C>G c.330C>G (p.Cys110Trp) | |
| 11 | g.68036330C>T | CA475442305 | NDUFS8 | c.450C>T (p.Cys150=) c.382C>T c.396C>T (p.Cys132=) c.*505C>T (n.*505C>T) c.12C>T (p.Cys4=) n.302C>T c.330C>T (p.Cys110=) | dbSNP gnomAD v4 |
| 11 | g.68036331A= | CA1980451924 | NDUFS8 | c.451A= (p.Ile151=) c.383A= c.397A= (p.Ile133=) c.*506A= (n.*506A=) c.13A= (p.Ile5=) n.303A= c.331A= (p.Ile111=) | |
| 11 | g.68036331A>C | CA381569233 | NDUFS8 | c.451A>C (p.Ile151Leu) c.383A>C c.397A>C (p.Ile133Leu) c.*506A>C (n.*506A>C) c.13A>C (p.Ile5Leu) n.303A>C c.331A>C (p.Ile111Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68036331A>G | CA381569235 | NDUFS8 | c.451A>G (p.Ile151Val) c.383A>G c.397A>G (p.Ile133Val) c.*506A>G (n.*506A>G) c.13A>G (p.Ile5Val) n.303A>G c.331A>G (p.Ile111Val) | gnomAD v4 |
| 11 | g.68036331A>T | CA381569238 | NDUFS8 | c.451A>T (p.Ile151Phe) c.383A>T c.397A>T (p.Ile133Phe) c.*506A>T (n.*506A>T) c.13A>T (p.Ile5Phe) n.303A>T c.331A>T (p.Ile111Phe) | |
| 11 | g.68036332T>A | CA381569241 | NDUFS8 | c.452T>A (p.Ile151Asn) c.384T>A c.398T>A (p.Ile133Asn) c.*507T>A (n.*507T>A) c.14T>A (p.Ile5Asn) n.304T>A c.332T>A (p.Ile111Asn) | |
| 11 | g.68036332T>C | CA381569244 | NDUFS8 | c.452T>C (p.Ile151Thr) c.384T>C c.398T>C (p.Ile133Thr) c.*507T>C (n.*507T>C) c.14T>C (p.Ile5Thr) n.304T>C c.332T>C (p.Ile111Thr) | |
| 11 | g.68036332T>G | CA381569246 | NDUFS8 | c.452T>G (p.Ile151Ser) c.384T>G c.398T>G (p.Ile133Ser) c.*507T>G (n.*507T>G) c.14T>G (p.Ile5Ser) n.304T>G c.332T>G (p.Ile111Ser) | |
| 11 | g.68036333C>A | CA475442318 | NDUFS8 | c.453C>A (p.Ile151=) c.385C>A c.399C>A (p.Ile133=) c.*508C>A (n.*508C>A) c.15C>A (p.Ile5=) n.305C>A c.333C>A (p.Ile111=) | |
| 11 | g.68036333C= | CA1980451928 | NDUFS8 | c.453C= (p.Ile151=) c.385C= c.399C= (p.Ile133=) c.*508C= (n.*508C=) c.15C= (p.Ile5=) n.305C= c.333C= (p.Ile111=) | |
| 11 | g.68036333C>G | CA381569249 | NDUFS8 | c.453C>G (p.Ile151Met) c.385C>G c.399C>G (p.Ile133Met) c.*508C>G (n.*508C>G) c.15C>G (p.Ile5Met) n.305C>G c.333C>G (p.Ile111Met) | |
| 11 | g.68036333C>T | CA475442321 | NDUFS8 | c.453C>T (p.Ile151=) c.385C>T c.399C>T (p.Ile133=) c.*508C>T (n.*508C>T) c.15C>T (p.Ile5=) n.305C>T c.333C>T (p.Ile111=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68036334T>A | CA381569253 | NDUFS8 | c.454T>A (p.Tyr152Asn) c.386T>A c.400T>A (p.Tyr134Asn) c.*509T>A (n.*509T>A) c.16T>A (p.Tyr6Asn) n.306T>A c.334T>A (p.Tyr112Asn) | |
| 11 | g.68036334T>C | CA381569254 | NDUFS8 | c.454T>C (p.Tyr152His) c.386T>C c.400T>C (p.Tyr134His) c.*509T>C (n.*509T>C) c.16T>C (p.Tyr6His) n.306T>C c.334T>C (p.Tyr112His) | ClinVar dbSNP |
| 11 | g.68036334T>G | CA381569257 | NDUFS8 | c.454T>G (p.Tyr152Asp) c.386T>G c.400T>G (p.Tyr134Asp) c.*509T>G (n.*509T>G) c.16T>G (p.Tyr6Asp) n.306T>G c.334T>G (p.Tyr112Asp) | |
| 11 | g.68036334T= | CA1980451930 | NDUFS8 | c.454T= (p.Tyr152=) c.386T= c.400T= (p.Tyr134=) c.*509T= (n.*509T=) c.16T= (p.Tyr6=) n.306T= c.334T= (p.Tyr112=) | |
| 11 | g.68036335A= | CA1980451932 | NDUFS8 | c.455A= (p.Tyr152=) c.387A= c.401A= (p.Tyr134=) c.*510A= (n.*510A=) c.17A= (p.Tyr6=) n.307A= c.335A= (p.Tyr112=) | |
| 11 | g.68036335A>C | CA381569262 | NDUFS8 | c.455A>C (p.Tyr152Ser) c.387A>C c.401A>C (p.Tyr134Ser) c.*510A>C (n.*510A>C) c.17A>C (p.Tyr6Ser) n.307A>C c.335A>C (p.Tyr112Ser) | |
| 11 | g.68036335A>G | CA381569265 | NDUFS8 | c.455A>G (p.Tyr152Cys) c.387A>G c.401A>G (p.Tyr134Cys) c.*510A>G (n.*510A>G) c.17A>G (p.Tyr6Cys) n.307A>G c.335A>G (p.Tyr112Cys) | |
| 11 | g.68036335A>T | CA381569263 | NDUFS8 | c.455A>T (p.Tyr152Phe) c.387A>T c.401A>T (p.Tyr134Phe) c.*510A>T (n.*510A>T) c.17A>T (p.Tyr6Phe) n.307A>T c.335A>T (p.Tyr112Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036336C>A | CA381569269 | NDUFS8 | c.456C>A (p.Tyr152Ter) c.388C>A c.402C>A (p.Tyr134Ter) c.*511C>A (n.*511C>A) c.18C>A (p.Tyr6Ter) n.308C>A c.336C>A (p.Tyr112Ter) | |
| 11 | g.68036336C= | CA1980451937 | NDUFS8 | c.456C= (p.Tyr152=) c.388C= c.402C= (p.Tyr134=) c.*511C= (n.*511C=) c.18C= (p.Tyr6=) n.308C= c.336C= (p.Tyr112=) | |
| 11 | g.68036336C>G | CA381569272 | NDUFS8 | c.456C>G (p.Tyr152Ter) c.388C>G c.402C>G (p.Tyr134Ter) c.*511C>G (n.*511C>G) c.18C>G (p.Tyr6Ter) n.308C>G c.336C>G (p.Tyr112Ter) | |
| 11 | g.68036336C>T | CA6146534 | NDUFS8 | c.456C>T (p.Tyr152=) c.388C>T c.402C>T (p.Tyr134=) c.*511C>T (n.*511C>T) c.18C>T (p.Tyr6=) n.308C>T c.336C>T (p.Tyr112=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036337T>A | CA381569273 | NDUFS8 | c.457T>A (p.Cys153Ser) c.389T>A c.403T>A (p.Cys135Ser) c.*512T>A (n.*512T>A) c.19T>A (p.Cys7Ser) n.309T>A c.337T>A (p.Cys113Ser) | |
| 11 | g.68036337T>C | CA381569280 | NDUFS8 | c.457T>C (p.Cys153Arg) c.389T>C c.403T>C (p.Cys135Arg) c.*512T>C (n.*512T>C) c.19T>C (p.Cys7Arg) n.309T>C c.337T>C (p.Cys113Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68036337T>G | CA381569281 | NDUFS8 | c.457T>G (p.Cys153Gly) c.389T>G c.403T>G (p.Cys135Gly) c.*512T>G (n.*512T>G) c.19T>G (p.Cys7Gly) n.309T>G c.337T>G (p.Cys113Gly) | |
| 11 | g.68036337T= | CA1980451939 | NDUFS8 | c.457T= (p.Cys153=) c.389T= c.403T= (p.Cys135=) c.*512T= (n.*512T=) c.19T= (p.Cys7=) n.309T= c.337T= (p.Cys113=) | |
| 11 | g.68036338G>A | CA381569283 | NDUFS8 | c.458G>A (p.Cys153Tyr) c.390G>A c.404G>A (p.Cys135Tyr) c.*513G>A (n.*513G>A) c.20G>A (p.Cys7Tyr) n.310G>A c.338G>A (p.Cys113Tyr) | |
| 11 | g.68036338G>C | CA381569286 | NDUFS8 | c.458G>C (p.Cys153Ser) c.390G>C c.404G>C (p.Cys135Ser) c.*513G>C (n.*513G>C) c.20G>C (p.Cys7Ser) n.310G>C c.338G>C (p.Cys113Ser) | gnomAD v4 |
| 11 | g.68036338G>T | CA381569294 | NDUFS8 | c.458G>T (p.Cys153Phe) c.390G>T c.404G>T (p.Cys135Phe) c.*513G>T (n.*513G>T) c.20G>T (p.Cys7Phe) n.310G>T c.338G>T (p.Cys113Phe) | |
| 11 | g.68036339C>A | CA381569296 | NDUFS8 | c.459C>A (p.Cys153Ter) c.391C>A c.405C>A (p.Cys135Ter) c.*514C>A (n.*514C>A) c.21C>A (p.Cys7Ter) n.311C>A c.339C>A (p.Cys113Ter) | |
| 11 | g.68036339C= | CA1980451944 | NDUFS8 | c.459C= (p.Cys153=) c.391C= c.405C= (p.Cys135=) c.*514C= (n.*514C=) c.21C= (p.Cys7=) n.311C= c.339C= (p.Cys113=) | |
| 11 | g.68036339C>G | CA381569298 | NDUFS8 | c.459C>G (p.Cys153Trp) c.391C>G c.405C>G (p.Cys135Trp) c.*514C>G (n.*514C>G) c.21C>G (p.Cys7Trp) n.311C>G c.339C>G (p.Cys113Trp) | |
| 11 | g.68036339C>T | CA6146535 | NDUFS8 | c.459C>T (p.Cys153=) c.391C>T c.405C>T (p.Cys135=) c.*514C>T (n.*514C>T) c.21C>T (p.Cys7=) n.311C>T c.339C>T (p.Cys113=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036340G>A | CA224194909 | NDUFS8 | c.460G>A (p.Gly154Ser) c.392G>A c.406G>A (p.Gly136Ser) c.*515G>A (n.*515G>A) c.22G>A (p.Gly8Ser) n.312G>A c.340G>A (p.Gly114Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036340G>C | CA381569303 | NDUFS8 | c.460G>C (p.Gly154Arg) c.392G>C c.406G>C (p.Gly136Arg) c.*515G>C (n.*515G>C) c.22G>C (p.Gly8Arg) n.312G>C c.340G>C (p.Gly114Arg) | |
| 11 | g.68036340G= | CA1980451950 | NDUFS8 | c.460G= (p.Gly154=) c.392G= c.406G= (p.Gly136=) c.*515G= (n.*515G=) c.22G= (p.Gly8=) n.312G= c.340G= (p.Gly114=) | |
| 11 | g.68036340G>T | CA381569305 | NDUFS8 | c.460G>T (p.Gly154Cys) c.392G>T c.406G>T (p.Gly136Cys) c.*515G>T (n.*515G>T) c.22G>T (p.Gly8Cys) n.312G>T c.340G>T (p.Gly114Cys) | |
| 11 | g.68036341G>A | CA381569309 | NDUFS8 | c.461G>A (p.Gly154Asp) c.393G>A c.407G>A (p.Gly136Asp) c.*516G>A (n.*516G>A) c.23G>A (p.Gly8Asp) n.313G>A c.341G>A (p.Gly114Asp) | |
| 11 | g.68036341G>C | CA381569311 | NDUFS8 | c.461G>C (p.Gly154Ala) c.393G>C c.407G>C (p.Gly136Ala) c.*516G>C (n.*516G>C) c.23G>C (p.Gly8Ala) n.313G>C c.341G>C (p.Gly114Ala) | |
| 11 | g.68036341G>T | CA381569313 | NDUFS8 | c.461G>T (p.Gly154Val) c.393G>T c.407G>T (p.Gly136Val) c.*516G>T (n.*516G>T) c.23G>T (p.Gly8Val) n.313G>T c.341G>T (p.Gly114Val) | gnomAD v4 |
| 11 | g.68036342C>A | CA6146536 | NDUFS8 | c.462C>A (p.Gly154=) c.394C>A c.408C>A (p.Gly136=) c.*517C>A (n.*517C>A) c.24C>A (p.Gly8=) n.314C>A c.342C>A (p.Gly114=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68036342C= | CA1980451955 | NDUFS8 | c.462C= (p.Gly154=) c.394C= c.408C= (p.Gly136=) c.*517C= (n.*517C=) c.24C= (p.Gly8=) n.314C= c.342C= (p.Gly114=) | |
| 11 | g.68036342C>G | CA475442358 | NDUFS8 | c.462C>G (p.Gly154=) c.394C>G c.408C>G (p.Gly136=) c.*517C>G (n.*517C>G) c.24C>G (p.Gly8=) n.314C>G c.342C>G (p.Gly114=) | |
| 11 | g.68036342C>T | CA475442360 | NDUFS8 | c.462C>T (p.Gly154=) c.394C>T c.408C>T (p.Gly136=) c.*517C>T (n.*517C>T) c.24C>T (p.Gly8=) n.314C>T c.342C>T (p.Gly114=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036342_68036343del | CA2504381522 | NDUFS8 | c.462_463del (p.Phe155LeufsTer17) c.394_395del c.408_409del (p.Phe137LeufsTer?) c.*517_*518del (n.*517_*518del) c.24_25del (p.Phe9LeufsTer17) n.314_315del c.342_343del (p.Phe115LeufsTer17) | |
| 11 | g.68036343T>A | CA381569317 | NDUFS8 | c.463T>A (p.Phe155Ile) c.395T>A c.409T>A (p.Phe137Ile) c.*518T>A (n.*518T>A) c.25T>A (p.Phe9Ile) n.315T>A c.343T>A (p.Phe115Ile) | gnomAD v3 gnomAD v4 |
| 11 | g.68036343T>C | CA381569320 | NDUFS8 | c.463T>C (p.Phe155Leu) c.395T>C c.409T>C (p.Phe137Leu) c.*518T>C (n.*518T>C) c.25T>C (p.Phe9Leu) n.315T>C c.343T>C (p.Phe115Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036343T>G | CA381569322 | NDUFS8 | c.463T>G (p.Phe155Val) c.395T>G c.409T>G (p.Phe137Val) c.*518T>G (n.*518T>G) c.25T>G (p.Phe9Val) n.315T>G c.343T>G (p.Phe115Val) | |
| 11 | g.68036343T= | CA1980451961 | NDUFS8 | c.463T= (p.Phe155=) c.395T= c.409T= (p.Phe137=) c.*518T= (n.*518T=) c.25T= (p.Phe9=) n.315T= c.343T= (p.Phe115=) | |
| 11 | g.68036344T>A | CA381569325 | NDUFS8 | c.464T>A (p.Phe155Tyr) c.396T>A c.410T>A (p.Phe137Tyr) c.*519T>A (n.*519T>A) c.26T>A (p.Phe9Tyr) n.316T>A c.344T>A (p.Phe115Tyr) | |
| 11 | g.68036344T>C | CA381569326 | NDUFS8 | c.464T>C (p.Phe155Ser) c.396T>C c.410T>C (p.Phe137Ser) c.*519T>C (n.*519T>C) c.26T>C (p.Phe9Ser) n.316T>C c.344T>C (p.Phe115Ser) | |
| 11 | g.68036344T>G | CA381569327 | NDUFS8 | c.464T>G (p.Phe155Cys) c.396T>G c.410T>G (p.Phe137Cys) c.*519T>G (n.*519T>G) c.26T>G (p.Phe9Cys) n.316T>G c.344T>G (p.Phe115Cys) | |
| 11 | g.68036345C>A | CA381569329 | NDUFS8 | c.465C>A (p.Phe155Leu) c.397C>A c.411C>A (p.Phe137Leu) c.*520C>A (n.*520C>A) c.27C>A (p.Phe9Leu) n.317C>A c.345C>A (p.Phe115Leu) | |
| 11 | g.68036345C= | CA1980451964 | NDUFS8 | c.465C= (p.Phe155=) c.397C= c.411C= (p.Phe137=) c.*520C= (n.*520C=) c.27C= (p.Phe9=) n.317C= c.345C= (p.Phe115=) | |
| 11 | g.68036345C>G | CA381569328 | NDUFS8 | c.465C>G (p.Phe155Leu) c.397C>G c.411C>G (p.Phe137Leu) c.*520C>G (n.*520C>G) c.27C>G (p.Phe9Leu) n.317C>G c.345C>G (p.Phe115Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036345C>T | CA475442373 | NDUFS8 | c.465C>T (p.Phe155=) c.397C>T c.411C>T (p.Phe137=) c.*520C>T (n.*520C>T) c.27C>T (p.Phe9=) n.317C>T c.345C>T (p.Phe115=) | dbSNP gnomAD v2 |
| 11 | g.68036346T>A | CA381569331 | NDUFS8 | c.466T>A (p.Cys156Ser) c.398T>A c.412T>A (p.Cys138Ser) c.*521T>A (n.*521T>A) c.28T>A (p.Cys10Ser) n.318T>A c.346T>A (p.Cys116Ser) | |
| 11 | g.68036346T>C | CA381569334 | NDUFS8 | c.466T>C (p.Cys156Arg) c.398T>C c.412T>C (p.Cys138Arg) c.*521T>C (n.*521T>C) c.28T>C (p.Cys10Arg) n.318T>C c.346T>C (p.Cys116Arg) | dbSNP gnomAD v2 |
| 11 | g.68036346T>G | CA381569335 | NDUFS8 | c.466T>G (p.Cys156Gly) c.398T>G c.412T>G (p.Cys138Gly) c.*521T>G (n.*521T>G) c.28T>G (p.Cys10Gly) n.318T>G c.346T>G (p.Cys116Gly) | |
| 11 | g.68036346T= | CA1980451968 | NDUFS8 | c.466T= (p.Cys156=) c.398T= c.412T= (p.Cys138=) c.*521T= (n.*521T=) c.28T= (p.Cys10=) n.318T= c.346T= (p.Cys116=) | |
| 11 | g.68036346_68036347dup | CA2531200648 | NDUFS8 | c.466_467dup (p.Gln157AlafsTer?) c.398_399dup c.412_413dup (p.Cys138=) c.*521_*522dup (n.*521_*522dup) c.28_29dup (p.Gln11AlafsTer?) n.318_319dup c.346_347dup (p.Gln117AlafsTer?) | |
| 11 | g.68036347G>A | CA381569338 | NDUFS8 | c.467G>A (p.Cys156Tyr) c.399G>A c.413G>A (p.Cys138Tyr) c.*522G>A (n.*522G>A) c.29G>A (p.Cys10Tyr) n.319G>A c.347G>A (p.Cys116Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036347G>C | CA381569339 | NDUFS8 | c.467G>C (p.Cys156Ser) c.399G>C c.413G>C (p.Cys138Ser) c.*522G>C (n.*522G>C) c.29G>C (p.Cys10Ser) n.319G>C c.347G>C (p.Cys116Ser) | |
| 11 | g.68036347G= | CA1980451972 | NDUFS8 | c.467G= (p.Cys156=) c.399G= c.413G= (p.Cys138=) c.*522G= (n.*522G=) c.29G= (p.Cys10=) n.319G= c.347G= (p.Cys116=) | |
| 11 | g.68036347G>T | CA381569340 | NDUFS8 | c.467G>T (p.Cys156Phe) c.399G>T c.413G>T (p.Cys138Phe) c.*522G>T (n.*522G>T) c.29G>T (p.Cys10Phe) n.319G>T c.347G>T (p.Cys116Phe) | |
| 11 | g.68036348C>A | CA381569341 | NDUFS8 | c.468C>A (p.Cys156Ter) c.400C>A c.414C>A (p.Cys138Ter) c.*523C>A (n.*523C>A) c.30C>A (p.Cys10Ter) n.320C>A c.348C>A (p.Cys116Ter) | |
| 11 | g.68036348C>G | CA381569342 | NDUFS8 | c.468C>G (p.Cys156Trp) c.400C>G c.414C>G (p.Cys138Trp) c.*523C>G (n.*523C>G) c.30C>G (p.Cys10Trp) n.320C>G c.348C>G (p.Cys116Trp) | |
| 11 | g.68036348C>T | CA475442385 | NDUFS8 | c.468C>T (p.Cys156=) c.400C>T c.414C>T (p.Cys138=) c.*523C>T (n.*523C>T) c.30C>T (p.Cys10=) n.320C>T c.348C>T (p.Cys116=) | dbSNP |
| 11 | g.68036349C>A | CA381569343 | NDUFS8 | c.469C>A (p.Gln157Lys) c.401C>A c.*524C>A (n.*524C>A) c.31C>A (p.Gln11Lys) n.321C>A c.349C>A (p.Gln117Lys) | |
| 11 | g.68036349C>G | CA381569345 | NDUFS8 | c.469C>G (p.Gln157Glu) c.401C>G c.*524C>G (n.*524C>G) c.31C>G (p.Gln11Glu) n.321C>G c.349C>G (p.Gln117Glu) | dbSNP |
| 11 | g.68036349C>T | CA381569348 | NDUFS8 | c.469C>T (p.Gln157Ter) c.401C>T c.*524C>T (n.*524C>T) c.31C>T (p.Gln11Ter) n.321C>T c.349C>T (p.Gln117Ter) | |
| 11 | g.68036350A>C | CA381569349 | NDUFS8 | c.470A>C (p.Gln157Pro) c.402A>C c.*525A>C (n.*525A>C) c.32A>C (p.Gln11Pro) n.322A>C c.350A>C (p.Gln117Pro) | |
| 11 | g.68036350A>G | CA381569350 | NDUFS8 | c.470A>G (p.Gln157Arg) c.402A>G c.*525A>G (n.*525A>G) c.32A>G (p.Gln11Arg) n.322A>G c.350A>G (p.Gln117Arg) | |
| 11 | g.68036350A>T | CA381569351 | NDUFS8 | c.470A>T (p.Gln157Leu) c.402A>T c.*525A>T (n.*525A>T) c.32A>T (p.Gln11Leu) n.322A>T c.350A>T (p.Gln117Leu) | |
| 11 | g.68036351G>A | CA475442396 | NDUFS8 | c.471G>A (p.Gln157=) c.403G>A c.*526G>A (n.*526G>A) c.33G>A (p.Gln11=) n.323G>A c.351G>A (p.Gln117=) | |
| 11 | g.68036351G>C | CA381569353 | NDUFS8 | c.471G>C (p.Gln157His) c.403G>C c.*526G>C (n.*526G>C) c.33G>C (p.Gln11His) n.323G>C c.351G>C (p.Gln117His) | gnomAD v4 |
| 11 | g.68036351G>T | CA381569352 | NDUFS8 | c.471G>T (p.Gln157His) c.403G>T c.*526G>T (n.*526G>T) c.33G>T (p.Gln11His) n.323G>T c.351G>T (p.Gln117His) | |
| 11 | g.68036352G>A | CA381569355 | NDUFS8 | c.472G>A (p.Glu158Lys) c.404G>A c.*527G>A (n.*527G>A) c.34G>A (p.Glu12Lys) n.324G>A c.352G>A (p.Glu118Lys) | |
| 11 | g.68036352G>C | CA381569358 | NDUFS8 | c.472G>C (p.Glu158Gln) c.404G>C c.*527G>C (n.*527G>C) c.34G>C (p.Glu12Gln) n.324G>C c.352G>C (p.Glu118Gln) | |
| 11 | g.68036352G>T | CA381569357 | NDUFS8 | c.472G>T (p.Glu158Ter) c.404G>T c.*527G>T (n.*527G>T) c.34G>T (p.Glu12Ter) n.324G>T c.352G>T (p.Glu118Ter) | |
| 11 | g.68036353A= | CA1980451977 | NDUFS8 | c.473A= (p.Glu158=) c.405A= c.*528A= (n.*528A=) c.35A= (p.Glu12=) n.325A= c.353A= (p.Glu118=) | |
| 11 | g.68036353A>C | CA381569360 | NDUFS8 | c.473A>C (p.Glu158Ala) c.405A>C c.*528A>C (n.*528A>C) c.35A>C (p.Glu12Ala) n.325A>C c.353A>C (p.Glu118Ala) | dbSNP |
| 11 | g.68036353A>G | CA381569364 | NDUFS8 | c.473A>G (p.Glu158Gly) c.405A>G c.*528A>G (n.*528A>G) c.35A>G (p.Glu12Gly) n.325A>G c.353A>G (p.Glu118Gly) | |
| 11 | g.68036353A>T | CA381569362 | NDUFS8 | c.473A>T (p.Glu158Val) c.405A>T c.*528A>T (n.*528A>T) c.35A>T (p.Glu12Val) n.325A>T c.353A>T (p.Glu118Val) | |
| 11 | g.68036354G>A | CA475442406 | NDUFS8 | c.474G>A (p.Glu158=) c.406G>A c.*529G>A (n.*529G>A) c.36G>A (p.Glu12=) n.326G>A c.354G>A (p.Glu118=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036354G>C | CA381569365 | NDUFS8 | c.474G>C (p.Glu158Asp) c.406G>C c.*529G>C (n.*529G>C) c.36G>C (p.Glu12Asp) n.326G>C c.354G>C (p.Glu118Asp) | |
| 11 | g.68036354G= | CA1980451981 | NDUFS8 | c.474G= (p.Glu158=) c.406G= c.*529G= (n.*529G=) c.36G= (p.Glu12=) n.326G= c.354G= (p.Glu118=) | |
| 11 | g.68036354G>T | CA381569366 | NDUFS8 | c.474G>T (p.Glu158Asp) c.406G>T c.*529G>T (n.*529G>T) c.36G>T (p.Glu12Asp) n.326G>T c.354G>T (p.Glu118Asp) | |
| 11 | g.68036355G>A | CA381569368 | NDUFS8 | c.475G>A (p.Ala159Thr) c.407G>A c.*530G>A (n.*530G>A) c.37G>A (p.Ala13Thr) n.327G>A c.355G>A (p.Ala119Thr) | gnomAD v4 |
| 11 | g.68036355G>C | CA381569371 | NDUFS8 | c.475G>C (p.Ala159Pro) c.407G>C c.*530G>C (n.*530G>C) c.37G>C (p.Ala13Pro) n.327G>C c.355G>C (p.Ala119Pro) | |
| 11 | g.68036355G= | CA1980451985 | NDUFS8 | c.475G= (p.Ala159=) c.407G= c.*530G= (n.*530G=) c.37G= (p.Ala13=) n.327G= c.355G= (p.Ala119=) | |
| 11 | g.68036355G>T | CA381569369 | NDUFS8 | c.475G>T (p.Ala159Ser) c.407G>T c.*530G>T (n.*530G>T) c.37G>T (p.Ala13Ser) n.327G>T c.355G>T (p.Ala119Ser) | dbSNP |
| 11 | g.68036356C>A | CA130613 | NDUFS8 | c.476C>A (p.Ala159Asp) c.408C>A c.*531C>A (n.*531C>A) c.38C>A (p.Ala13Asp) n.328C>A c.356C>A (p.Ala119Asp) | ClinVar dbSNP |
| 11 | g.68036356C= | CA1980451988 | NDUFS8 | c.476C= (p.Ala159=) c.408C= c.*531C= (n.*531C=) c.38C= (p.Ala13=) n.328C= c.356C= (p.Ala119=) | |
| 11 | g.68036356C>G | CA381569374 | NDUFS8 | c.476C>G (p.Ala159Gly) c.408C>G c.*531C>G (n.*531C>G) c.38C>G (p.Ala13Gly) n.328C>G c.356C>G (p.Ala119Gly) | |
| 11 | g.68036356C>T | CA381569373 | NDUFS8 | c.476C>T (p.Ala159Val) c.408C>T c.*531C>T (n.*531C>T) c.38C>T (p.Ala13Val) n.328C>T c.356C>T (p.Ala119Val) | |
| 11 | g.68036357C>A | CA475442417 | NDUFS8 | c.477C>A (p.Ala159=) c.409C>A c.*532C>A (n.*532C>A) c.39C>A (p.Ala13=) n.329C>A c.357C>A (p.Ala119=) | dbSNP |
| 11 | g.68036357C= | CA1980451994 | NDUFS8 | c.477C= (p.Ala159=) c.409C= c.*532C= (n.*532C=) c.39C= (p.Ala13=) n.329C= c.357C= (p.Ala119=) | |
| 11 | g.68036357C>G | CA475442421 | NDUFS8 | c.477C>G (p.Ala159=) c.409C>G c.*532C>G (n.*532C>G) c.39C>G (p.Ala13=) n.329C>G c.357C>G (p.Ala119=) | gnomAD v3 gnomAD v4 |
| 11 | g.68036357C>T | CA475442419 | NDUFS8 | c.477C>T (p.Ala159=) c.409C>T c.*532C>T (n.*532C>T) c.39C>T (p.Ala13=) n.329C>T c.357C>T (p.Ala119=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68036358T>A | CA381569376 | NDUFS8 | c.478T>A (p.Cys160Ser) c.410T>A c.*533T>A (n.*533T>A) c.40T>A (p.Cys14Ser) n.330T>A c.358T>A (p.Cys120Ser) | |
| 11 | g.68036358T>C | CA381569380 | NDUFS8 | c.478T>C (p.Cys160Arg) c.410T>C c.*533T>C (n.*533T>C) c.40T>C (p.Cys14Arg) n.330T>C c.358T>C (p.Cys120Arg) | |
| 11 | g.68036358T>G | CA381569378 | NDUFS8 | c.478T>G (p.Cys160Gly) c.410T>G c.*533T>G (n.*533T>G) c.40T>G (p.Cys14Gly) n.330T>G c.358T>G (p.Cys120Gly) | |
| 11 | g.68036359G>A | CA381569383 | NDUFS8 | c.479G>A (p.Cys160Tyr) c.411G>A c.*534G>A (n.*534G>A) c.41G>A (p.Cys14Tyr) n.331G>A c.359G>A (p.Cys120Tyr) | |
| 11 | g.68036359G>C | CA381569385 | NDUFS8 | c.479G>C (p.Cys160Ser) c.411G>C c.*534G>C (n.*534G>C) c.41G>C (p.Cys14Ser) n.331G>C c.359G>C (p.Cys120Ser) | |
| 11 | g.68036359G>T | CA381569384 | NDUFS8 | c.479G>T (p.Cys160Phe) c.411G>T c.*534G>T (n.*534G>T) c.41G>T (p.Cys14Phe) n.331G>T c.359G>T (p.Cys120Phe) | |
| 11 | g.68036360del | CA2792527944 | NDUFS8 | c.480del (p.Val162TrpfsTer?) c.412del c.*535del (n.*535del) c.42del (p.Val16TrpfsTer?) n.332del c.360del (p.Val122TrpfsTer?) | |
| 11 | g.68036360T>A | CA381569387 | NDUFS8 | c.480T>A (p.Cys160Ter) c.412T>A c.*535T>A (n.*535T>A) c.42T>A (p.Cys14Ter) n.332T>A c.360T>A (p.Cys120Ter) | |
| 11 | g.68036360T>C | CA475442433 | NDUFS8 | c.480T>C (p.Cys160=) c.412T>C c.*535T>C (n.*535T>C) c.42T>C (p.Cys14=) n.332T>C c.360T>C (p.Cys120=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68036360T>G | CA381569389 | NDUFS8 | c.480T>G (p.Cys160Trp) c.412T>G c.*535T>G (n.*535T>G) c.42T>G (p.Cys14Trp) n.332T>G c.360T>G (p.Cys120Trp) | dbSNP |
| 11 | g.68036360T= | CA1980451999 | NDUFS8 | c.480T= (p.Cys160=) c.412T= c.*535T= (n.*535T=) c.42T= (p.Cys14=) n.332T= c.360T= (p.Cys120=) |