| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.206127759_206127762delinsTTTA | CA2496479059 | NDUFS1 | c.1884+35_1884+38delinsTAAA (n.1884+35_1884+38delinsTAAA) c.1713+35_1713+38delinsTAAA (n.1713+35_1713+38delinsTAAA) c.1551+35_1551+38delinsTAAA (n.1551+35_1551+38delinsTAAA) c.1776+35_1776+38delinsTAAA (n.1776+35_1776+38delinsTAAA) c.1926+35_1926+38delinsTAAA (n.1926+35_1926+38delinsTAAA) c.1536+35_1536+38delinsTAAA (n.1536+35_1536+38delinsTAAA) n.391_394delinsTAAA c.1125+35_1125+38delinsTAAA (n.1125+35_1125+38delinsTAAA) | |
| 2 | g.206127760_206127762del | CA539388265 | NDUFS1 | c.1884+35_1884+37del (n.1884+35_1884+37del) c.1713+35_1713+37del (n.1713+35_1713+37del) c.1551+35_1551+37del (n.1551+35_1551+37del) c.1776+35_1776+37del (n.1776+35_1776+37del) c.1926+35_1926+37del (n.1926+35_1926+37del) c.1536+35_1536+37del (n.1536+35_1536+37del) n.391_393del c.1125+35_1125+37del (n.1125+35_1125+37del) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.206127763_206127764delinsGT | CA2496479060 | NDUFS1 | c.1884+33_1884+34delinsAC (n.1884+33_1884+34delinsAC) c.1713+33_1713+34delinsAC (n.1713+33_1713+34delinsAC) c.1551+33_1551+34delinsAC (n.1551+33_1551+34delinsAC) c.1776+33_1776+34delinsAC (n.1776+33_1776+34delinsAC) c.1926+33_1926+34delinsAC (n.1926+33_1926+34delinsAC) c.1536+33_1536+34delinsAC (n.1536+33_1536+34delinsAC) n.389_390delinsAC c.1125+33_1125+34delinsAC (n.1125+33_1125+34delinsAC) | |
| 2 | g.206127764del | CA539388266 | NDUFS1 | c.1884+33del (n.1884+33del) c.1713+33del (n.1713+33del) c.1551+33del (n.1551+33del) c.1776+33del (n.1776+33del) c.1926+33del (n.1926+33del) c.1536+33del (n.1536+33del) n.389del c.1125+33del (n.1125+33del) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.206127764T>C | CA2496479062 | NDUFS1 | c.1884+33A>G (n.1884+33A>G) c.1713+33A>G (n.1713+33A>G) c.1551+33A>G (n.1551+33A>G) c.1776+33A>G (n.1776+33A>G) c.1926+33A>G (n.1926+33A>G) c.1536+33A>G (n.1536+33A>G) n.389A>G c.1125+33A>G (n.1125+33A>G) | dbSNP gnomAD v4 |
| 2 | g.206127764T>G | CA2662800690 | NDUFS1 | c.1884+33A>C (n.1884+33A>C) c.1713+33A>C (n.1713+33A>C) c.1551+33A>C (n.1551+33A>C) c.1776+33A>C (n.1776+33A>C) c.1926+33A>C (n.1926+33A>C) c.1536+33A>C (n.1536+33A>C) n.389A>C c.1125+33A>C (n.1125+33A>C) | gnomAD v4 |
| 2 | g.206127764T= | CA2496479061 | NDUFS1 | c.1884+33A= (n.1884+33A=) c.1713+33A= (n.1713+33A=) c.1551+33A= (n.1551+33A=) c.1776+33A= (n.1776+33A=) c.1926+33A= (n.1926+33A=) c.1536+33A= (n.1536+33A=) n.389A= c.1125+33A= (n.1125+33A=) | |
| 2 | g.206127765A= | CA2496479063 | NDUFS1 | c.1884+32T= (n.1884+32T=) c.1713+32T= (n.1713+32T=) c.1551+32T= (n.1551+32T=) c.1776+32T= (n.1776+32T=) c.1926+32T= (n.1926+32T=) c.1536+32T= (n.1536+32T=) n.388T= c.1125+32T= (n.1125+32T=) | |
| 2 | g.206127765A>T | CA539388267 | NDUFS1 | c.1884+32T>A (n.1884+32T>A) c.1713+32T>A (n.1713+32T>A) c.1551+32T>A (n.1551+32T>A) c.1776+32T>A (n.1776+32T>A) c.1926+32T>A (n.1926+32T>A) c.1536+32T>A (n.1536+32T>A) n.388T>A c.1125+32T>A (n.1125+32T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.206127766G>T | CA2662800695 | NDUFS1 | c.1884+31C>A (n.1884+31C>A) c.1713+31C>A (n.1713+31C>A) c.1551+31C>A (n.1551+31C>A) c.1776+31C>A (n.1776+31C>A) c.1926+31C>A (n.1926+31C>A) c.1536+31C>A (n.1536+31C>A) n.387C>A c.1125+31C>A (n.1125+31C>A) | gnomAD v4 |
| 2 | g.206127766_206127768delinsGCA | CA2496479064 | NDUFS1 | c.1884+29_1884+31delinsTGC (n.1884+29_1884+31delinsTGC) c.1713+29_1713+31delinsTGC (n.1713+29_1713+31delinsTGC) c.1551+29_1551+31delinsTGC (n.1551+29_1551+31delinsTGC) c.1776+29_1776+31delinsTGC (n.1776+29_1776+31delinsTGC) c.1926+29_1926+31delinsTGC (n.1926+29_1926+31delinsTGC) c.1536+29_1536+31delinsTGC (n.1536+29_1536+31delinsTGC) n.385_387delinsTGC c.1125+29_1125+31delinsTGC (n.1125+29_1125+31delinsTGC) | |
| 2 | g.206127767C= | CA2496479066 | NDUFS1 | c.1884+30G= (n.1884+30G=) c.1713+30G= (n.1713+30G=) c.1551+30G= (n.1551+30G=) c.1776+30G= (n.1776+30G=) c.1926+30G= (n.1926+30G=) c.1536+30G= (n.1536+30G=) n.386G= c.1125+30G= (n.1125+30G=) | |
| 2 | g.206127767C>G | CA2496479065 | NDUFS1 | c.1884+30G>C (n.1884+30G>C) c.1713+30G>C (n.1713+30G>C) c.1551+30G>C (n.1551+30G>C) c.1776+30G>C (n.1776+30G>C) c.1926+30G>C (n.1926+30G>C) c.1536+30G>C (n.1536+30G>C) n.386G>C c.1125+30G>C (n.1125+30G>C) | dbSNP |
| 2 | g.206127767_206127768del | CA539388268 | NDUFS1 | c.1884+29_1884+30del (n.1884+29_1884+30del) c.1713+29_1713+30del (n.1713+29_1713+30del) c.1551+29_1551+30del (n.1551+29_1551+30del) c.1776+29_1776+30del (n.1776+29_1776+30del) c.1926+29_1926+30del (n.1926+29_1926+30del) c.1536+29_1536+30del (n.1536+29_1536+30del) n.385_386del c.1125+29_1125+30del (n.1125+29_1125+30del) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.206127770C>A | CA763789712 | NDUFS1 | c.1884+27G>T (n.1884+27G>T) c.1713+27G>T (n.1713+27G>T) c.1551+27G>T (n.1551+27G>T) c.1776+27G>T (n.1776+27G>T) c.1926+27G>T (n.1926+27G>T) c.1536+27G>T (n.1536+27G>T) n.383G>T c.1125+27G>T (n.1125+27G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.206127770C= | CA2496479067 | NDUFS1 | c.1884+27G= (n.1884+27G=) c.1713+27G= (n.1713+27G=) c.1551+27G= (n.1551+27G=) c.1776+27G= (n.1776+27G=) c.1926+27G= (n.1926+27G=) c.1536+27G= (n.1536+27G=) n.383G= c.1125+27G= (n.1125+27G=) | |
| 2 | g.206127776G>A | CA539388269 | NDUFS1 | c.1884+21C>T (n.1884+21C>T) c.1713+21C>T (n.1713+21C>T) c.1551+21C>T (n.1551+21C>T) c.1776+21C>T (n.1776+21C>T) c.1926+21C>T (n.1926+21C>T) c.1536+21C>T (n.1536+21C>T) n.377C>T c.1125+21C>T (n.1125+21C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.206127776G= | CA2496479068 | NDUFS1 | c.1884+21C= (n.1884+21C=) c.1713+21C= (n.1713+21C=) c.1551+21C= (n.1551+21C=) c.1776+21C= (n.1776+21C=) c.1926+21C= (n.1926+21C=) c.1536+21C= (n.1536+21C=) n.377C= c.1125+21C= (n.1125+21C=) | |
| 2 | g.206127776G>T | CA2070335 | NDUFS1 | c.1884+21C>A (n.1884+21C>A) c.1713+21C>A (n.1713+21C>A) c.1551+21C>A (n.1551+21C>A) c.1776+21C>A (n.1776+21C>A) c.1926+21C>A (n.1926+21C>A) c.1536+21C>A (n.1536+21C>A) n.377C>A c.1125+21C>A (n.1125+21C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.206127779dup | CA539388270 | NDUFS1 | c.1884+20dup (n.1884+20dup) c.1713+20dup (n.1713+20dup) c.1551+20dup (n.1551+20dup) c.1776+20dup (n.1776+20dup) c.1926+20dup (n.1926+20dup) c.1536+20dup (n.1536+20dup) n.376dup c.1125+20dup (n.1125+20dup) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.206127780T>C | CA539388271 | NDUFS1 | c.1884+17A>G (n.1884+17A>G) c.1713+17A>G (n.1713+17A>G) c.1551+17A>G (n.1551+17A>G) c.1776+17A>G (n.1776+17A>G) c.1926+17A>G (n.1926+17A>G) c.1536+17A>G (n.1536+17A>G) n.373A>G c.1125+17A>G (n.1125+17A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.206127780T= | CA2496479069 | NDUFS1 | c.1884+17A= (n.1884+17A=) c.1713+17A= (n.1713+17A=) c.1551+17A= (n.1551+17A=) c.1776+17A= (n.1776+17A=) c.1926+17A= (n.1926+17A=) c.1536+17A= (n.1536+17A=) n.373A= c.1125+17A= (n.1125+17A=) | |
| 2 | g.206127781G>T | CA2662800704 | NDUFS1 | c.1884+16C>A (n.1884+16C>A) c.1713+16C>A (n.1713+16C>A) c.1551+16C>A (n.1551+16C>A) c.1776+16C>A (n.1776+16C>A) c.1926+16C>A (n.1926+16C>A) c.1536+16C>A (n.1536+16C>A) n.372C>A c.1125+16C>A (n.1125+16C>A) | gnomAD v4 |
| 2 | g.206127783C>A | CA2662800706 | NDUFS1 | c.1884+14G>T (n.1884+14G>T) c.1713+14G>T (n.1713+14G>T) c.1551+14G>T (n.1551+14G>T) c.1776+14G>T (n.1776+14G>T) c.1926+14G>T (n.1926+14G>T) c.1536+14G>T (n.1536+14G>T) n.370G>T c.1125+14G>T (n.1125+14G>T) | gnomAD v4 |
| 2 | g.206127783C>T | CA2753990703 | NDUFS1 | c.1884+14G>A (n.1884+14G>A) c.1713+14G>A (n.1713+14G>A) c.1551+14G>A (n.1551+14G>A) c.1776+14G>A (n.1776+14G>A) c.1926+14G>A (n.1926+14G>A) c.1536+14G>A (n.1536+14G>A) n.370G>A c.1125+14G>A (n.1125+14G>A) | |
| 2 | g.206127784T>G | CA2662800708 | NDUFS1 | c.1884+13A>C (n.1884+13A>C) c.1713+13A>C (n.1713+13A>C) c.1551+13A>C (n.1551+13A>C) c.1776+13A>C (n.1776+13A>C) c.1926+13A>C (n.1926+13A>C) c.1536+13A>C (n.1536+13A>C) n.369A>C c.1125+13A>C (n.1125+13A>C) | gnomAD v4 |
| 2 | g.206127787_206127788del | CA2753990704 | NDUFS1 | c.1884+10_1884+11del (n.1884+10_1884+11del) c.1713+10_1713+11del (n.1713+10_1713+11del) c.1551+10_1551+11del (n.1551+10_1551+11del) c.1776+10_1776+11del (n.1776+10_1776+11del) c.1926+10_1926+11del (n.1926+10_1926+11del) c.1536+10_1536+11del (n.1536+10_1536+11del) n.366_367del c.1125+10_1125+11del (n.1125+10_1125+11del) | |
| 2 | g.206127787G= | CA2496479070 | NDUFS1 | c.1884+10C= (n.1884+10C=) c.1713+10C= (n.1713+10C=) c.1551+10C= (n.1551+10C=) c.1776+10C= (n.1776+10C=) c.1926+10C= (n.1926+10C=) c.1536+10C= (n.1536+10C=) n.366C= c.1125+10C= (n.1125+10C=) | |
| 2 | g.206127787G>T | CA2070336 | NDUFS1 | c.1884+10C>A (n.1884+10C>A) c.1713+10C>A (n.1713+10C>A) c.1551+10C>A (n.1551+10C>A) c.1776+10C>A (n.1776+10C>A) c.1926+10C>A (n.1926+10C>A) c.1536+10C>A (n.1536+10C>A) n.366C>A c.1125+10C>A (n.1125+10C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.206127792dup | CA2577221895 | NDUFS1 | c.1884+6dup (n.1884+6dup) c.1713+6dup (n.1713+6dup) c.1551+6dup (n.1551+6dup) c.1776+6dup (n.1776+6dup) c.1926+6dup (n.1926+6dup) c.1536+6dup (n.1536+6dup) n.362dup c.1125+6dup (n.1125+6dup) | gnomAD v4 |
| 2 | g.206127792T>A | CA539388274 | NDUFS1 | c.1884+5A>T (n.1884+5A>T) c.1713+5A>T (n.1713+5A>T) c.1551+5A>T (n.1551+5A>T) c.1776+5A>T (n.1776+5A>T) c.1926+5A>T (n.1926+5A>T) c.1536+5A>T (n.1536+5A>T) n.361A>T c.1125+5A>T (n.1125+5A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.206127792T= | CA2496479071 | NDUFS1 | c.1884+5A= (n.1884+5A=) c.1713+5A= (n.1713+5A=) c.1551+5A= (n.1551+5A=) c.1776+5A= (n.1776+5A=) c.1926+5A= (n.1926+5A=) c.1536+5A= (n.1536+5A=) n.361A= c.1125+5A= (n.1125+5A=) | |
| 2 | g.206127794T>C | CA539388276 | NDUFS1 | c.1884+3A>G (n.1884+3A>G) c.1713+3A>G (n.1713+3A>G) c.1551+3A>G (n.1551+3A>G) c.1776+3A>G (n.1776+3A>G) c.1926+3A>G (n.1926+3A>G) c.1536+3A>G (n.1536+3A>G) n.359A>G c.1125+3A>G (n.1125+3A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.206127794T= | CA2496479072 | NDUFS1 | c.1884+3A= (n.1884+3A=) c.1713+3A= (n.1713+3A=) c.1551+3A= (n.1551+3A=) c.1776+3A= (n.1776+3A=) c.1926+3A= (n.1926+3A=) c.1536+3A= (n.1536+3A=) n.359A= c.1125+3A= (n.1125+3A=) | |
| 2 | g.206127795A= | CA2496479073 | NDUFS1 | c.1884+2T= (n.1884+2T=) c.1713+2T= (n.1713+2T=) c.1551+2T= (n.1551+2T=) c.1776+2T= (n.1776+2T=) c.1926+2T= (n.1926+2T=) c.1536+2T= (n.1536+2T=) n.358T= c.1125+2T= (n.1125+2T=) | |
| 2 | g.206127795A>C | CA350042676 | NDUFS1 | c.1884+2T>G (n.1884+2T>G) c.1713+2T>G (n.1713+2T>G) c.1551+2T>G (n.1551+2T>G) c.1776+2T>G (n.1776+2T>G) c.1926+2T>G (n.1926+2T>G) c.1536+2T>G (n.1536+2T>G) n.358T>G c.1125+2T>G (n.1125+2T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.206127795A>G | CA350042681 | NDUFS1 | c.1884+2T>C (n.1884+2T>C) c.1713+2T>C (n.1713+2T>C) c.1551+2T>C (n.1551+2T>C) c.1776+2T>C (n.1776+2T>C) c.1926+2T>C (n.1926+2T>C) c.1536+2T>C (n.1536+2T>C) n.358T>C c.1125+2T>C (n.1125+2T>C) | |
| 2 | g.206127795A>T | CA350042684 | NDUFS1 | c.1884+2T>A (n.1884+2T>A) c.1713+2T>A (n.1713+2T>A) c.1551+2T>A (n.1551+2T>A) c.1776+2T>A (n.1776+2T>A) c.1926+2T>A (n.1926+2T>A) c.1536+2T>A (n.1536+2T>A) n.358T>A c.1125+2T>A (n.1125+2T>A) | |
| 2 | g.206127796C>A | CA350042703 | NDUFS1 | c.1884+1G>T (n.1884+1G>T) c.1713+1G>T (n.1713+1G>T) c.1551+1G>T (n.1551+1G>T) c.1776+1G>T (n.1776+1G>T) c.1926+1G>T (n.1926+1G>T) c.1536+1G>T (n.1536+1G>T) n.357G>T c.1125+1G>T (n.1125+1G>T) | |
| 2 | g.206127796C>G | CA350042698 | NDUFS1 | c.1884+1G>C (n.1884+1G>C) c.1713+1G>C (n.1713+1G>C) c.1551+1G>C (n.1551+1G>C) c.1776+1G>C (n.1776+1G>C) c.1926+1G>C (n.1926+1G>C) c.1536+1G>C (n.1536+1G>C) n.357G>C c.1125+1G>C (n.1125+1G>C) | |
| 2 | g.206127796C>T | CA350042695 | NDUFS1 | c.1884+1G>A (n.1884+1G>A) c.1713+1G>A (n.1713+1G>A) c.1551+1G>A (n.1551+1G>A) c.1776+1G>A (n.1776+1G>A) c.1926+1G>A (n.1926+1G>A) c.1536+1G>A (n.1536+1G>A) n.357G>A c.1125+1G>A (n.1125+1G>A) | gnomAD v4 |
| 2 | g.206127797C>A | CA350042706 | NDUFS1 | c.1884G>T (p.Glu628Asp) c.1713G>T (p.Glu571Asp) c.1551G>T (p.Glu517Asp) c.1776G>T (p.Glu592Asp) c.1926G>T (p.Glu642Asp) c.1536G>T (p.Glu512Asp) n.356G>T c.1125G>T (p.Glu375Asp) | |
| 2 | g.206127797C= | CA2496479074 | NDUFS1 | c.1884G= (p.Glu628=) c.1713G= (p.Glu571=) c.1551G= (p.Glu517=) c.1776G= (p.Glu592=) c.1926G= (p.Glu642=) c.1536G= (p.Glu512=) n.356G= c.1125G= (p.Glu375=) | |
| 2 | g.206127797C>G | CA350042707 | NDUFS1 | c.1884G>C (p.Glu628Asp) c.1713G>C (p.Glu571Asp) c.1551G>C (p.Glu517Asp) c.1776G>C (p.Glu592Asp) c.1926G>C (p.Glu642Asp) c.1536G>C (p.Glu512Asp) n.356G>C c.1125G>C (p.Glu375Asp) | |
| 2 | g.206127797C>T | CA2070337 | NDUFS1 | c.1884G>A (p.Glu628=) c.1713G>A (p.Glu571=) c.1551G>A (p.Glu517=) c.1776G>A (p.Glu592=) c.1926G>A (p.Glu642=) c.1536G>A (p.Glu512=) n.356G>A c.1125G>A (p.Glu375=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.206127798T>A | CA350042708 | NDUFS1 | c.1883A>T (p.Glu628Val) c.1712A>T (p.Glu571Val) c.1550A>T (p.Glu517Val) c.1775A>T (p.Glu592Val) c.1925A>T (p.Glu642Val) c.1535A>T (p.Glu512Val) n.355A>T c.1124A>T (p.Glu375Val) | |
| 2 | g.206127798T>C | CA350042709 | NDUFS1 | c.1883A>G (p.Glu628Gly) c.1712A>G (p.Glu571Gly) c.1550A>G (p.Glu517Gly) c.1775A>G (p.Glu592Gly) c.1925A>G (p.Glu642Gly) c.1535A>G (p.Glu512Gly) n.355A>G c.1124A>G (p.Glu375Gly) | |
| 2 | g.206127798T>G | CA350042710 | NDUFS1 | c.1883A>C (p.Glu628Ala) c.1712A>C (p.Glu571Ala) c.1550A>C (p.Glu517Ala) c.1775A>C (p.Glu592Ala) c.1925A>C (p.Glu642Ala) c.1535A>C (p.Glu512Ala) n.355A>C c.1124A>C (p.Glu375Ala) | |
| 2 | g.206127799C>A | CA350042713 | NDUFS1 | c.1882G>T (p.Glu628Ter) c.1711G>T (p.Glu571Ter) c.1549G>T (p.Glu517Ter) c.1774G>T (p.Glu592Ter) c.1924G>T (p.Glu642Ter) c.1534G>T (p.Glu512Ter) n.354G>T c.1123G>T (p.Glu375Ter) | |
| 2 | g.206127799C= | CA2496479075 | NDUFS1 | c.1882G= (p.Glu628=) c.1711G= (p.Glu571=) c.1549G= (p.Glu517=) c.1774G= (p.Glu592=) c.1924G= (p.Glu642=) c.1534G= (p.Glu512=) n.354G= c.1123G= (p.Glu375=) | |
| 2 | g.206127799C>G | CA350042721 | NDUFS1 | c.1882G>C (p.Glu628Gln) c.1711G>C (p.Glu571Gln) c.1549G>C (p.Glu517Gln) c.1774G>C (p.Glu592Gln) c.1924G>C (p.Glu642Gln) c.1534G>C (p.Glu512Gln) n.354G>C c.1123G>C (p.Glu375Gln) | |
| 2 | g.206127799C>T | CA350042725 | NDUFS1 | c.1882G>A (p.Glu628Lys) c.1711G>A (p.Glu571Lys) c.1549G>A (p.Glu517Lys) c.1774G>A (p.Glu592Lys) c.1924G>A (p.Glu642Lys) c.1534G>A (p.Glu512Lys) n.354G>A c.1123G>A (p.Glu375Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.206127799_206127801delinsCAG | CA2496479076 | NDUFS1 | c.1880_1882delinsCTG (p.Ser627=) c.1709_1711delinsCTG (p.Ser570=) c.1547_1549delinsCTG (p.Ser516=) c.1772_1774delinsCTG (p.Ser591=) c.1922_1924delinsCTG (p.Ser641=) c.1532_1534delinsCTG (p.Ser511=) n.352_354delinsCTG c.1121_1123delinsCTG (p.Ser374=) | |
| 2 | g.206127800A>C | CA430942843 | NDUFS1 | c.1881T>G (p.Ser627=) c.1710T>G (p.Ser570=) c.1548T>G (p.Ser516=) c.1773T>G (p.Ser591=) c.1923T>G (p.Ser641=) c.1533T>G (p.Ser511=) n.353T>G c.1122T>G (p.Ser374=) | |
| 2 | g.206127800A>G | CA430942845 | NDUFS1 | c.1881T>C (p.Ser627=) c.1710T>C (p.Ser570=) c.1548T>C (p.Ser516=) c.1773T>C (p.Ser591=) c.1923T>C (p.Ser641=) c.1533T>C (p.Ser511=) n.353T>C c.1122T>C (p.Ser374=) | ClinVar |
| 2 | g.206127800A>T | CA430942847 | NDUFS1 | c.1881T>A (p.Ser627=) c.1710T>A (p.Ser570=) c.1548T>A (p.Ser516=) c.1773T>A (p.Ser591=) c.1923T>A (p.Ser641=) c.1533T>A (p.Ser511=) n.353T>A c.1122T>A (p.Ser374=) | |
| 2 | g.206127804_206127805del | CA539388279 | NDUFS1 | c.1880_1881del (p.Ser627Ter) c.1709_1710del (p.Ser570Ter) c.1547_1548del (p.Ser516Ter) c.1772_1773del (p.Ser591Ter) c.1922_1923del (p.Ser641Ter) c.1532_1533del (p.Ser511Ter) n.352_353del c.1121_1122del (p.Ser374Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.206127801G>A | CA350042729 | NDUFS1 | c.1880C>T (p.Ser627Phe) c.1709C>T (p.Ser570Phe) c.1547C>T (p.Ser516Phe) c.1772C>T (p.Ser591Phe) c.1922C>T (p.Ser641Phe) c.1532C>T (p.Ser511Phe) n.352C>T c.1121C>T (p.Ser374Phe) | |
| 2 | g.206127801G>C | CA350042732 | NDUFS1 | c.1880C>G (p.Ser627Cys) c.1709C>G (p.Ser570Cys) c.1547C>G (p.Ser516Cys) c.1772C>G (p.Ser591Cys) c.1922C>G (p.Ser641Cys) c.1532C>G (p.Ser511Cys) n.352C>G c.1121C>G (p.Ser374Cys) | |
| 2 | g.206127801G= | CA2496479077 | NDUFS1 | c.1880C= (p.Ser627=) c.1709C= (p.Ser570=) c.1547C= (p.Ser516=) c.1772C= (p.Ser591=) c.1922C= (p.Ser641=) c.1532C= (p.Ser511=) n.352C= c.1121C= (p.Ser374=) | |
| 2 | g.206127801G>T | CA350042735 | NDUFS1 | c.1880C>A (p.Ser627Tyr) c.1709C>A (p.Ser570Tyr) c.1547C>A (p.Ser516Tyr) c.1772C>A (p.Ser591Tyr) c.1922C>A (p.Ser641Tyr) c.1532C>A (p.Ser511Tyr) n.352C>A c.1121C>A (p.Ser374Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.206127802A>C | CA350042746 | NDUFS1 | c.1879T>G (p.Ser627Ala) c.1708T>G (p.Ser570Ala) c.1546T>G (p.Ser516Ala) c.1771T>G (p.Ser591Ala) c.1921T>G (p.Ser641Ala) c.1531T>G (p.Ser511Ala) n.351T>G c.1120T>G (p.Ser374Ala) | |
| 2 | g.206127802A>G | CA350042741 | NDUFS1 | c.1879T>C (p.Ser627Pro) c.1708T>C (p.Ser570Pro) c.1546T>C (p.Ser516Pro) c.1771T>C (p.Ser591Pro) c.1921T>C (p.Ser641Pro) c.1531T>C (p.Ser511Pro) n.351T>C c.1120T>C (p.Ser374Pro) | |
| 2 | g.206127802A>T | CA350042738 | NDUFS1 | c.1879T>A (p.Ser627Thr) c.1708T>A (p.Ser570Thr) c.1546T>A (p.Ser516Thr) c.1771T>A (p.Ser591Thr) c.1921T>A (p.Ser641Thr) c.1531T>A (p.Ser511Thr) n.351T>A c.1120T>A (p.Ser374Thr) | |
| 2 | g.206127803G>A | CA430942857 | NDUFS1 | c.1878C>T (p.Leu626=) c.1707C>T (p.Leu569=) c.1545C>T (p.Leu515=) c.1770C>T (p.Leu590=) c.1920C>T (p.Leu640=) c.1530C>T (p.Leu510=) n.350C>T c.1119C>T (p.Leu373=) | gnomAD v4 |
| 2 | g.206127803G>C | CA430942860 | NDUFS1 | c.1878C>G (p.Leu626=) c.1707C>G (p.Leu569=) c.1545C>G (p.Leu515=) c.1770C>G (p.Leu590=) c.1920C>G (p.Leu640=) c.1530C>G (p.Leu510=) n.350C>G c.1119C>G (p.Leu373=) | dbSNP gnomAD v4 |
| 2 | g.206127803G= | CA2496479078 | NDUFS1 | c.1878C= (p.Leu626=) c.1707C= (p.Leu569=) c.1545C= (p.Leu515=) c.1770C= (p.Leu590=) c.1920C= (p.Leu640=) c.1530C= (p.Leu510=) n.350C= c.1119C= (p.Leu373=) | |
| 2 | g.206127803G>T | CA430942859 | NDUFS1 | c.1878C>A (p.Leu626=) c.1707C>A (p.Leu569=) c.1545C>A (p.Leu515=) c.1770C>A (p.Leu590=) c.1920C>A (p.Leu640=) c.1530C>A (p.Leu510=) n.350C>A c.1119C>A (p.Leu373=) | |
| 2 | g.206127804A>C | CA350042750 | NDUFS1 | c.1877T>G (p.Leu626Arg) c.1706T>G (p.Leu569Arg) c.1544T>G (p.Leu515Arg) c.1769T>G (p.Leu590Arg) c.1919T>G (p.Leu640Arg) c.1529T>G (p.Leu510Arg) n.349T>G c.1118T>G (p.Leu373Arg) | |
| 2 | g.206127804A>G | CA350042753 | NDUFS1 | c.1877T>C (p.Leu626Pro) c.1706T>C (p.Leu569Pro) c.1544T>C (p.Leu515Pro) c.1769T>C (p.Leu590Pro) c.1919T>C (p.Leu640Pro) c.1529T>C (p.Leu510Pro) n.349T>C c.1118T>C (p.Leu373Pro) | |
| 2 | g.206127804A>T | CA350042765 | NDUFS1 | c.1877T>A (p.Leu626His) c.1706T>A (p.Leu569His) c.1544T>A (p.Leu515His) c.1769T>A (p.Leu590His) c.1919T>A (p.Leu640His) c.1529T>A (p.Leu510His) n.349T>A c.1118T>A (p.Leu373His) | |
| 2 | g.206127805G>A | CA350042770 | NDUFS1 | c.1876C>T (p.Leu626Phe) c.1705C>T (p.Leu569Phe) c.1543C>T (p.Leu515Phe) c.1768C>T (p.Leu590Phe) c.1918C>T (p.Leu640Phe) c.1528C>T (p.Leu510Phe) n.348C>T c.1117C>T (p.Leu373Phe) | |
| 2 | g.206127805G>C | CA350042776 | NDUFS1 | c.1876C>G (p.Leu626Val) c.1705C>G (p.Leu569Val) c.1543C>G (p.Leu515Val) c.1768C>G (p.Leu590Val) c.1918C>G (p.Leu640Val) c.1528C>G (p.Leu510Val) n.348C>G c.1117C>G (p.Leu373Val) | |
| 2 | g.206127805G= | CA2496479079 | NDUFS1 | c.1876C= (p.Leu626=) c.1705C= (p.Leu569=) c.1543C= (p.Leu515=) c.1768C= (p.Leu590=) c.1918C= (p.Leu640=) c.1528C= (p.Leu510=) n.348C= c.1117C= (p.Leu373=) | |
| 2 | g.206127805G>T | CA350042778 | NDUFS1 | c.1876C>A (p.Leu626Ile) c.1705C>A (p.Leu569Ile) c.1543C>A (p.Leu515Ile) c.1768C>A (p.Leu590Ile) c.1918C>A (p.Leu640Ile) c.1528C>A (p.Leu510Ile) n.348C>A c.1117C>A (p.Leu373Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.206127806T>A | CA430942867 | NDUFS1 | c.1875A>T (p.Ala625=) c.1704A>T (p.Ala568=) c.1542A>T (p.Ala514=) c.1767A>T (p.Ala589=) c.1917A>T (p.Ala639=) c.1527A>T (p.Ala509=) n.347A>T c.1116A>T (p.Ala372=) | |
| 2 | g.206127806T>C | CA430942870 | NDUFS1 | c.1875A>G (p.Ala625=) c.1704A>G (p.Ala568=) c.1542A>G (p.Ala514=) c.1767A>G (p.Ala589=) c.1917A>G (p.Ala639=) c.1527A>G (p.Ala509=) n.347A>G c.1116A>G (p.Ala372=) | COSMIC |
| 2 | g.206127806T>G | CA2070338 | NDUFS1 | c.1875A>C (p.Ala625=) c.1704A>C (p.Ala568=) c.1542A>C (p.Ala514=) c.1767A>C (p.Ala589=) c.1917A>C (p.Ala639=) c.1527A>C (p.Ala509=) n.347A>C c.1116A>C (p.Ala372=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.206127806T= | CA2496479080 | NDUFS1 | c.1875A= (p.Ala625=) c.1704A= (p.Ala568=) c.1542A= (p.Ala514=) c.1767A= (p.Ala589=) c.1917A= (p.Ala639=) c.1527A= (p.Ala509=) n.347A= c.1116A= (p.Ala372=) | |
| 2 | g.206127807G>A | CA350042784 | NDUFS1 | c.1874C>T (p.Ala625Val) c.1703C>T (p.Ala568Val) c.1541C>T (p.Ala514Val) c.1766C>T (p.Ala589Val) c.1916C>T (p.Ala639Val) c.1526C>T (p.Ala509Val) n.346C>T c.1115C>T (p.Ala372Val) | gnomAD v4 |
| 2 | g.206127807G>C | CA350042787 | NDUFS1 | c.1874C>G (p.Ala625Gly) c.1703C>G (p.Ala568Gly) c.1541C>G (p.Ala514Gly) c.1766C>G (p.Ala589Gly) c.1916C>G (p.Ala639Gly) c.1526C>G (p.Ala509Gly) n.346C>G c.1115C>G (p.Ala372Gly) | gnomAD v4 |
| 2 | g.206127807G>T | CA350042797 | NDUFS1 | c.1874C>A (p.Ala625Glu) c.1703C>A (p.Ala568Glu) c.1541C>A (p.Ala514Glu) c.1766C>A (p.Ala589Glu) c.1916C>A (p.Ala639Glu) c.1526C>A (p.Ala509Glu) n.346C>A c.1115C>A (p.Ala372Glu) | |
| 2 | g.206127808C>A | CA350042812 | NDUFS1 | c.1873G>T (p.Ala625Ser) c.1702G>T (p.Ala568Ser) c.1540G>T (p.Ala514Ser) c.1765G>T (p.Ala589Ser) c.1915G>T (p.Ala639Ser) c.1525G>T (p.Ala509Ser) n.345G>T c.1114G>T (p.Ala372Ser) | |
| 2 | g.206127808C>G | CA350042814 | NDUFS1 | c.1873G>C (p.Ala625Pro) c.1702G>C (p.Ala568Pro) c.1540G>C (p.Ala514Pro) c.1765G>C (p.Ala589Pro) c.1915G>C (p.Ala639Pro) c.1525G>C (p.Ala509Pro) n.345G>C c.1114G>C (p.Ala372Pro) | |
| 2 | g.206127808C>T | CA350042819 | NDUFS1 | c.1873G>A (p.Ala625Thr) c.1702G>A (p.Ala568Thr) c.1540G>A (p.Ala514Thr) c.1765G>A (p.Ala589Thr) c.1915G>A (p.Ala639Thr) c.1525G>A (p.Ala509Thr) n.345G>A c.1114G>A (p.Ala372Thr) | |
| 2 | g.206127809T>A | CA350042824 | NDUFS1 | c.1872A>T (p.Arg624Ser) c.1701A>T (p.Arg567Ser) c.1539A>T (p.Arg513Ser) c.1764A>T (p.Arg588Ser) c.1914A>T (p.Arg638Ser) c.1524A>T (p.Arg508Ser) n.344A>T c.1113A>T (p.Arg371Ser) | |
| 2 | g.206127809T>C | CA430942881 | NDUFS1 | c.1872A>G (p.Arg624=) c.1701A>G (p.Arg567=) c.1539A>G (p.Arg513=) c.1764A>G (p.Arg588=) c.1914A>G (p.Arg638=) c.1524A>G (p.Arg508=) n.344A>G c.1113A>G (p.Arg371=) | gnomAD v4 |
| 2 | g.206127809T>G | CA350042821 | NDUFS1 | c.1872A>C (p.Arg624Ser) c.1701A>C (p.Arg567Ser) c.1539A>C (p.Arg513Ser) c.1764A>C (p.Arg588Ser) c.1914A>C (p.Arg638Ser) c.1524A>C (p.Arg508Ser) n.344A>C c.1113A>C (p.Arg371Ser) | |
| 2 | g.206127810C>A | CA350042829 | NDUFS1 | c.1871G>T (p.Arg624Ile) c.1700G>T (p.Arg567Ile) c.1538G>T (p.Arg513Ile) c.1763G>T (p.Arg588Ile) c.1913G>T (p.Arg638Ile) c.1523G>T (p.Arg508Ile) n.343G>T c.1112G>T (p.Arg371Ile) | |
| 2 | g.206127810C= | CA2496479081 | NDUFS1 | c.1871G= (p.Arg624=) c.1700G= (p.Arg567=) c.1538G= (p.Arg513=) c.1763G= (p.Arg588=) c.1913G= (p.Arg638=) c.1523G= (p.Arg508=) n.343G= c.1112G= (p.Arg371=) | |
| 2 | g.206127810C>G | CA350042831 | NDUFS1 | c.1871G>C (p.Arg624Thr) c.1700G>C (p.Arg567Thr) c.1538G>C (p.Arg513Thr) c.1763G>C (p.Arg588Thr) c.1913G>C (p.Arg638Thr) c.1523G>C (p.Arg508Thr) n.343G>C c.1112G>C (p.Arg371Thr) | dbSNP |
| 2 | g.206127810C>T | CA350042833 | NDUFS1 | c.1871G>A (p.Arg624Lys) c.1700G>A (p.Arg567Lys) c.1538G>A (p.Arg513Lys) c.1763G>A (p.Arg588Lys) c.1913G>A (p.Arg638Lys) c.1523G>A (p.Arg508Lys) n.343G>A c.1112G>A (p.Arg371Lys) | gnomAD v4 |
| 2 | g.206127811T>A | CA350042834 | NDUFS1 | c.1870A>T (p.Arg624Ter) c.1699A>T (p.Arg567Ter) c.1537A>T (p.Arg513Ter) c.1762A>T (p.Arg588Ter) c.1912A>T (p.Arg638Ter) c.1522A>T (p.Arg508Ter) n.342A>T c.1111A>T (p.Arg371Ter) | |
| 2 | g.206127811T>C | CA350042837 | NDUFS1 | c.1870A>G (p.Arg624Gly) c.1699A>G (p.Arg567Gly) c.1537A>G (p.Arg513Gly) c.1762A>G (p.Arg588Gly) c.1912A>G (p.Arg638Gly) c.1522A>G (p.Arg508Gly) n.342A>G c.1111A>G (p.Arg371Gly) | |
| 2 | g.206127811T>G | CA430942888 | NDUFS1 | c.1870A>C (p.Arg624=) c.1699A>C (p.Arg567=) c.1537A>C (p.Arg513=) c.1762A>C (p.Arg588=) c.1912A>C (p.Arg638=) c.1522A>C (p.Arg508=) n.342A>C c.1111A>C (p.Arg371=) | |
| 2 | g.206127812_206127814del | CA2662800740 | NDUFS1 | c.1868_1870del (p.Ile623del) c.1697_1699del (p.Ile566del) c.1535_1537del (p.Ile512del) c.1760_1762del (p.Ile587del) c.1910_1912del (p.Ile637del) c.1520_1522del (p.Ile507del) n.340_342del c.1109_1111del (p.Ile370del) | gnomAD v4 |
| 2 | g.206127812T>A | CA430942893 | NDUFS1 | c.1869A>T (p.Ile623=) c.1698A>T (p.Ile566=) c.1536A>T (p.Ile512=) c.1761A>T (p.Ile587=) c.1911A>T (p.Ile637=) c.1521A>T (p.Ile507=) n.341A>T c.1110A>T (p.Ile370=) | |
| 2 | g.206127812T>C | CA350042839 | NDUFS1 | c.1869A>G (p.Ile623Met) c.1698A>G (p.Ile566Met) c.1536A>G (p.Ile512Met) c.1761A>G (p.Ile587Met) c.1911A>G (p.Ile637Met) c.1521A>G (p.Ile507Met) n.341A>G c.1110A>G (p.Ile370Met) | |
| 2 | g.206127812T>G | CA430942891 | NDUFS1 | c.1869A>C (p.Ile623=) c.1698A>C (p.Ile566=) c.1536A>C (p.Ile512=) c.1761A>C (p.Ile587=) c.1911A>C (p.Ile637=) c.1521A>C (p.Ile507=) n.341A>C c.1110A>C (p.Ile370=) | |
| 2 | g.206127813A= | CA2496479082 | NDUFS1 | c.1868T= (p.Ile623=) c.1697T= (p.Ile566=) c.1535T= (p.Ile512=) c.1760T= (p.Ile587=) c.1910T= (p.Ile637=) c.1520T= (p.Ile507=) n.340T= c.1109T= (p.Ile370=) | |
| 2 | g.206127813A>C | CA2070339 | NDUFS1 | c.1868T>G (p.Ile623Arg) c.1697T>G (p.Ile566Arg) c.1535T>G (p.Ile512Arg) c.1760T>G (p.Ile587Arg) c.1910T>G (p.Ile637Arg) c.1520T>G (p.Ile507Arg) n.340T>G c.1109T>G (p.Ile370Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.206127813A>G | CA350042844 | NDUFS1 | c.1868T>C (p.Ile623Thr) c.1697T>C (p.Ile566Thr) c.1535T>C (p.Ile512Thr) c.1760T>C (p.Ile587Thr) c.1910T>C (p.Ile637Thr) c.1520T>C (p.Ile507Thr) n.340T>C c.1109T>C (p.Ile370Thr) | gnomAD v4 |
| 2 | g.206127813A>T | CA322081 | NDUFS1 | c.1868T>A (p.Ile623Lys) c.1697T>A (p.Ile566Lys) c.1535T>A (p.Ile512Lys) c.1760T>A (p.Ile587Lys) c.1910T>A (p.Ile637Lys) c.1520T>A (p.Ile507Lys) n.340T>A c.1109T>A (p.Ile370Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.206127814T>A | CA350042848 | NDUFS1 | c.1867A>T (p.Ile623Leu) c.1696A>T (p.Ile566Leu) c.1534A>T (p.Ile512Leu) c.1759A>T (p.Ile587Leu) c.1909A>T (p.Ile637Leu) c.1519A>T (p.Ile507Leu) n.339A>T c.1108A>T (p.Ile370Leu) | |
| 2 | g.206127814T>C | CA350042850 | NDUFS1 | c.1867A>G (p.Ile623Val) c.1696A>G (p.Ile566Val) c.1534A>G (p.Ile512Val) c.1759A>G (p.Ile587Val) c.1909A>G (p.Ile637Val) c.1519A>G (p.Ile507Val) n.339A>G c.1108A>G (p.Ile370Val) | dbSNP gnomAD v4 |
| 2 | g.206127814T>G | CA350042852 | NDUFS1 | c.1867A>C (p.Ile623Leu) c.1696A>C (p.Ile566Leu) c.1534A>C (p.Ile512Leu) c.1759A>C (p.Ile587Leu) c.1909A>C (p.Ile637Leu) c.1519A>C (p.Ile507Leu) n.339A>C c.1108A>C (p.Ile370Leu) | gnomAD v4 |
| 2 | g.206127814T= | CA2496479083 | NDUFS1 | c.1867A= (p.Ile623=) c.1696A= (p.Ile566=) c.1534A= (p.Ile512=) c.1759A= (p.Ile587=) c.1909A= (p.Ile637=) c.1519A= (p.Ile507=) n.339A= c.1108A= (p.Ile370=) | |
| 2 | g.206127814dup | CA2662800741 | NDUFS1 | c.1867dup (p.Ile623AsnfsTer6) c.1696dup (p.Ile566AsnfsTer6) c.1534dup (p.Ile512AsnfsTer6) c.1759dup (p.Ile587AsnfsTer6) c.1909dup (p.Ile637AsnfsTer6) c.1519dup (p.Ile507AsnfsTer6) n.339dup c.1108dup (p.Ile370AsnfsTer6) | gnomAD v4 |
| 2 | g.206127815A= | CA2496479084 | NDUFS1 | c.1866T= (p.Ile622=) c.1695T= (p.Ile565=) c.1533T= (p.Ile511=) c.1758T= (p.Ile586=) c.1908T= (p.Ile636=) c.1518T= (p.Ile506=) n.338T= c.1107T= (p.Ile369=) | |
| 2 | g.206127815A>C | CA63648633 | NDUFS1 | c.1866T>G (p.Ile622Met) c.1695T>G (p.Ile565Met) c.1533T>G (p.Ile511Met) c.1758T>G (p.Ile586Met) c.1908T>G (p.Ile636Met) c.1518T>G (p.Ile506Met) n.338T>G c.1107T>G (p.Ile369Met) | dbSNP |
| 2 | g.206127815A>G | CA430942903 | NDUFS1 | c.1866T>C (p.Ile622=) c.1695T>C (p.Ile565=) c.1533T>C (p.Ile511=) c.1758T>C (p.Ile586=) c.1908T>C (p.Ile636=) c.1518T>C (p.Ile506=) n.338T>C c.1107T>C (p.Ile369=) | gnomAD v4 |
| 2 | g.206127815A>T | CA430942904 | NDUFS1 | c.1866T>A (p.Ile622=) c.1695T>A (p.Ile565=) c.1533T>A (p.Ile511=) c.1758T>A (p.Ile586=) c.1908T>A (p.Ile636=) c.1518T>A (p.Ile506=) n.338T>A c.1107T>A (p.Ile369=) | |
| 2 | g.206127816A>C | CA350042855 | NDUFS1 | c.1865T>G (p.Ile622Ser) c.1694T>G (p.Ile565Ser) c.1532T>G (p.Ile511Ser) c.1757T>G (p.Ile586Ser) c.1907T>G (p.Ile636Ser) c.1517T>G (p.Ile506Ser) n.337T>G c.1106T>G (p.Ile369Ser) | |
| 2 | g.206127816A>G | CA350042857 | NDUFS1 | c.1865T>C (p.Ile622Thr) c.1694T>C (p.Ile565Thr) c.1532T>C (p.Ile511Thr) c.1757T>C (p.Ile586Thr) c.1907T>C (p.Ile636Thr) c.1517T>C (p.Ile506Thr) n.337T>C c.1106T>C (p.Ile369Thr) | |
| 2 | g.206127816A>T | CA350042856 | NDUFS1 | c.1865T>A (p.Ile622Asn) c.1694T>A (p.Ile565Asn) c.1532T>A (p.Ile511Asn) c.1757T>A (p.Ile586Asn) c.1907T>A (p.Ile636Asn) c.1517T>A (p.Ile506Asn) n.337T>A c.1106T>A (p.Ile369Asn) | |
| 2 | g.206127817T>A | CA350042859 | NDUFS1 | c.1864A>T (p.Ile622Phe) c.1693A>T (p.Ile565Phe) c.1531A>T (p.Ile511Phe) c.1756A>T (p.Ile586Phe) c.1906A>T (p.Ile636Phe) c.1516A>T (p.Ile506Phe) n.336A>T c.1105A>T (p.Ile369Phe) | |
| 2 | g.206127817T>C | CA350042861 | NDUFS1 | c.1864A>G (p.Ile622Val) c.1693A>G (p.Ile565Val) c.1531A>G (p.Ile511Val) c.1756A>G (p.Ile586Val) c.1906A>G (p.Ile636Val) c.1516A>G (p.Ile506Val) n.336A>G c.1105A>G (p.Ile369Val) | |
| 2 | g.206127817T>G | CA350042860 | NDUFS1 | c.1864A>C (p.Ile622Leu) c.1693A>C (p.Ile565Leu) c.1531A>C (p.Ile511Leu) c.1756A>C (p.Ile586Leu) c.1906A>C (p.Ile636Leu) c.1516A>C (p.Ile506Leu) n.336A>C c.1105A>C (p.Ile369Leu) | |
| 2 | g.206127818T>A | CA350042863 | NDUFS1 | c.1863A>T (p.Lys621Asn) c.1692A>T (p.Lys564Asn) c.1530A>T (p.Lys510Asn) c.1755A>T (p.Lys585Asn) c.1905A>T (p.Lys635Asn) c.1515A>T (p.Lys505Asn) n.335A>T c.1104A>T (p.Lys368Asn) | |
| 2 | g.206127818T>C | CA430942913 | NDUFS1 | c.1863A>G (p.Lys621=) c.1692A>G (p.Lys564=) c.1530A>G (p.Lys510=) c.1755A>G (p.Lys585=) c.1905A>G (p.Lys635=) c.1515A>G (p.Lys505=) n.335A>G c.1104A>G (p.Lys368=) | |
| 2 | g.206127818T>G | CA350042865 | NDUFS1 | c.1863A>C (p.Lys621Asn) c.1692A>C (p.Lys564Asn) c.1530A>C (p.Lys510Asn) c.1755A>C (p.Lys585Asn) c.1905A>C (p.Lys635Asn) c.1515A>C (p.Lys505Asn) n.335A>C c.1104A>C (p.Lys368Asn) | |
| 2 | g.206127819T>A | CA350042868 | NDUFS1 | c.1862A>T (p.Lys621Ile) c.1691A>T (p.Lys564Ile) c.1529A>T (p.Lys510Ile) c.1754A>T (p.Lys585Ile) c.1904A>T (p.Lys635Ile) c.1514A>T (p.Lys505Ile) n.334A>T c.1103A>T (p.Lys368Ile) | |
| 2 | g.206127819T>C | CA350042874 | NDUFS1 | c.1862A>G (p.Lys621Arg) c.1691A>G (p.Lys564Arg) c.1529A>G (p.Lys510Arg) c.1754A>G (p.Lys585Arg) c.1904A>G (p.Lys635Arg) c.1514A>G (p.Lys505Arg) n.334A>G c.1103A>G (p.Lys368Arg) | |
| 2 | g.206127819T>G | CA350042871 | NDUFS1 | c.1862A>C (p.Lys621Thr) c.1691A>C (p.Lys564Thr) c.1529A>C (p.Lys510Thr) c.1754A>C (p.Lys585Thr) c.1904A>C (p.Lys635Thr) c.1514A>C (p.Lys505Thr) n.334A>C c.1103A>C (p.Lys368Thr) | |
| 2 | g.206127820T>A | CA350042876 | NDUFS1 | c.1861A>T (p.Lys621Ter) c.1690A>T (p.Lys564Ter) c.1528A>T (p.Lys510Ter) c.1753A>T (p.Lys585Ter) c.1903A>T (p.Lys635Ter) c.1513A>T (p.Lys505Ter) n.333A>T c.1102A>T (p.Lys368Ter) | |
| 2 | g.206127820T>C | CA350042877 | NDUFS1 | c.1861A>G (p.Lys621Glu) c.1690A>G (p.Lys564Glu) c.1528A>G (p.Lys510Glu) c.1753A>G (p.Lys585Glu) c.1903A>G (p.Lys635Glu) c.1513A>G (p.Lys505Glu) n.333A>G c.1102A>G (p.Lys368Glu) | gnomAD v4 |
| 2 | g.206127820T>G | CA350042879 | NDUFS1 | c.1861A>C (p.Lys621Gln) c.1690A>C (p.Lys564Gln) c.1528A>C (p.Lys510Gln) c.1753A>C (p.Lys585Gln) c.1903A>C (p.Lys635Gln) c.1513A>C (p.Lys505Gln) n.333A>C c.1102A>C (p.Lys368Gln) | gnomAD v4 |
| 2 | g.206127821C>A | CA350042880 | NDUFS1 | c.1860G>T (p.Trp620Cys) c.1689G>T (p.Trp563Cys) c.1527G>T (p.Trp509Cys) c.1752G>T (p.Trp584Cys) c.1902G>T (p.Trp634Cys) c.1512G>T (p.Trp504Cys) n.332G>T c.1101G>T (p.Trp367Cys) | |
| 2 | g.206127821C= | CA2496479085 | NDUFS1 | c.1860G= (p.Trp620=) c.1689G= (p.Trp563=) c.1527G= (p.Trp509=) c.1752G= (p.Trp584=) c.1902G= (p.Trp634=) c.1512G= (p.Trp504=) n.332G= c.1101G= (p.Trp367=) | |
| 2 | g.206127821C>G | CA350042882 | NDUFS1 | c.1860G>C (p.Trp620Cys) c.1689G>C (p.Trp563Cys) c.1527G>C (p.Trp509Cys) c.1752G>C (p.Trp584Cys) c.1902G>C (p.Trp634Cys) c.1512G>C (p.Trp504Cys) n.332G>C c.1101G>C (p.Trp367Cys) | |
| 2 | g.206127821C>T | CA350042888 | NDUFS1 | c.1860G>A (p.Trp620Ter) c.1689G>A (p.Trp563Ter) c.1527G>A (p.Trp509Ter) c.1752G>A (p.Trp584Ter) c.1902G>A (p.Trp634Ter) c.1512G>A (p.Trp504Ter) n.332G>A c.1101G>A (p.Trp367Ter) | dbSNP |
| 2 | g.206127822C>A | CA350042891 | NDUFS1 | c.1859G>T (p.Trp620Leu) c.1688G>T (p.Trp563Leu) c.1526G>T (p.Trp509Leu) c.1751G>T (p.Trp584Leu) c.1901G>T (p.Trp634Leu) c.1511G>T (p.Trp504Leu) n.331G>T c.1100G>T (p.Trp367Leu) | |
| 2 | g.206127822C>G | CA350042893 | NDUFS1 | c.1859G>C (p.Trp620Ser) c.1688G>C (p.Trp563Ser) c.1526G>C (p.Trp509Ser) c.1751G>C (p.Trp584Ser) c.1901G>C (p.Trp634Ser) c.1511G>C (p.Trp504Ser) n.331G>C c.1100G>C (p.Trp367Ser) | |
| 2 | g.206127822C>T | CA350042895 | NDUFS1 | c.1859G>A (p.Trp620Ter) c.1688G>A (p.Trp563Ter) c.1526G>A (p.Trp509Ter) c.1751G>A (p.Trp584Ter) c.1901G>A (p.Trp634Ter) c.1511G>A (p.Trp504Ter) n.331G>A c.1100G>A (p.Trp367Ter) | |
| 2 | g.206127823A>C | CA350042897 | NDUFS1 | c.1858T>G (p.Trp620Gly) c.1687T>G (p.Trp563Gly) c.1525T>G (p.Trp509Gly) c.1750T>G (p.Trp584Gly) c.1900T>G (p.Trp634Gly) c.1510T>G (p.Trp504Gly) n.330T>G c.1099T>G (p.Trp367Gly) | |
| 2 | g.206127823A>G | CA350042899 | NDUFS1 | c.1858T>C (p.Trp620Arg) c.1687T>C (p.Trp563Arg) c.1525T>C (p.Trp509Arg) c.1750T>C (p.Trp584Arg) c.1900T>C (p.Trp634Arg) c.1510T>C (p.Trp504Arg) n.330T>C c.1099T>C (p.Trp367Arg) | gnomAD v4 |
| 2 | g.206127823A>T | CA350042905 | NDUFS1 | c.1858T>A (p.Trp620Arg) c.1687T>A (p.Trp563Arg) c.1525T>A (p.Trp509Arg) c.1750T>A (p.Trp584Arg) c.1900T>A (p.Trp634Arg) c.1510T>A (p.Trp504Arg) n.330T>A c.1099T>A (p.Trp367Arg) | |
| 2 | g.206127824G>A | CA430942925 | NDUFS1 | c.1857C>T (p.Asp619=) c.1686C>T (p.Asp562=) c.1524C>T (p.Asp508=) c.1749C>T (p.Asp583=) c.1899C>T (p.Asp633=) c.1509C>T (p.Asp503=) n.329C>T c.1098C>T (p.Asp366=) | |
| 2 | g.206127824G>C | CA350042909 | NDUFS1 | c.1857C>G (p.Asp619Glu) c.1686C>G (p.Asp562Glu) c.1524C>G (p.Asp508Glu) c.1749C>G (p.Asp583Glu) c.1899C>G (p.Asp633Glu) c.1509C>G (p.Asp503Glu) n.329C>G c.1098C>G (p.Asp366Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.206127824G= | CA2496479086 | NDUFS1 | c.1857C= (p.Asp619=) c.1686C= (p.Asp562=) c.1524C= (p.Asp508=) c.1749C= (p.Asp583=) c.1899C= (p.Asp633=) c.1509C= (p.Asp503=) n.329C= c.1098C= (p.Asp366=) | |
| 2 | g.206127824G>T | CA350042907 | NDUFS1 | c.1857C>A (p.Asp619Glu) c.1686C>A (p.Asp562Glu) c.1524C>A (p.Asp508Glu) c.1749C>A (p.Asp583Glu) c.1899C>A (p.Asp633Glu) c.1509C>A (p.Asp503Glu) n.329C>A c.1098C>A (p.Asp366Glu) | |
| 2 | g.206127825T>A | CA350042914 | NDUFS1 | c.1856A>T (p.Asp619Val) c.1685A>T (p.Asp562Val) c.1523A>T (p.Asp508Val) c.1748A>T (p.Asp583Val) c.1898A>T (p.Asp633Val) c.1508A>T (p.Asp503Val) n.328A>T c.1097A>T (p.Asp366Val) | |
| 2 | g.206127825T>C | CA350042924 | NDUFS1 | c.1856A>G (p.Asp619Gly) c.1685A>G (p.Asp562Gly) c.1523A>G (p.Asp508Gly) c.1748A>G (p.Asp583Gly) c.1898A>G (p.Asp633Gly) c.1508A>G (p.Asp503Gly) n.328A>G c.1097A>G (p.Asp366Gly) | |
| 2 | g.206127825T>G | CA350042930 | NDUFS1 | c.1856A>C (p.Asp619Ala) c.1685A>C (p.Asp562Ala) c.1523A>C (p.Asp508Ala) c.1748A>C (p.Asp583Ala) c.1898A>C (p.Asp633Ala) c.1508A>C (p.Asp503Ala) n.328A>C c.1097A>C (p.Asp366Ala) | |
| 2 | g.206127826C>A | CA350042937 | NDUFS1 | c.1855G>T (p.Asp619Tyr) c.1684G>T (p.Asp562Tyr) c.1522G>T (p.Asp508Tyr) c.1747G>T (p.Asp583Tyr) c.1897G>T (p.Asp633Tyr) c.1507G>T (p.Asp503Tyr) n.327G>T c.1096G>T (p.Asp366Tyr) | |
| 2 | g.206127826C= | CA2496479087 | NDUFS1 | c.1855G= (p.Asp619=) c.1684G= (p.Asp562=) c.1522G= (p.Asp508=) c.1747G= (p.Asp583=) c.1897G= (p.Asp633=) c.1507G= (p.Asp503=) n.327G= c.1096G= (p.Asp366=) | |
| 2 | g.206127826C>G | CA350042939 | NDUFS1 | c.1855G>C (p.Asp619His) c.1684G>C (p.Asp562His) c.1522G>C (p.Asp508His) c.1747G>C (p.Asp583His) c.1897G>C (p.Asp633His) c.1507G>C (p.Asp503His) n.327G>C c.1096G>C (p.Asp366His) | |
| 2 | g.206127826C>T | CA143869 | NDUFS1 | c.1855G>A (p.Asp619Asn) c.1684G>A (p.Asp562Asn) c.1522G>A (p.Asp508Asn) c.1747G>A (p.Asp583Asn) c.1897G>A (p.Asp633Asn) c.1507G>A (p.Asp503Asn) n.327G>A c.1096G>A (p.Asp366Asn) | ClinVar dbSNP gnomAD v4 |
| 2 | g.206127827T>A | CA350042945 | NDUFS1 | c.1854A>T (p.Glu618Asp) c.1683A>T (p.Glu561Asp) c.1521A>T (p.Glu507Asp) c.1746A>T (p.Glu582Asp) c.1896A>T (p.Glu632Asp) c.1506A>T (p.Glu502Asp) n.326A>T c.1095A>T (p.Glu365Asp) | |
| 2 | g.206127827T>C | CA430942935 | NDUFS1 | c.1854A>G (p.Glu618=) c.1683A>G (p.Glu561=) c.1521A>G (p.Glu507=) c.1746A>G (p.Glu582=) c.1896A>G (p.Glu632=) c.1506A>G (p.Glu502=) n.326A>G c.1095A>G (p.Glu365=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.206127827T>G | CA350042949 | NDUFS1 | c.1854A>C (p.Glu618Asp) c.1683A>C (p.Glu561Asp) c.1521A>C (p.Glu507Asp) c.1746A>C (p.Glu582Asp) c.1896A>C (p.Glu632Asp) c.1506A>C (p.Glu502Asp) n.326A>C c.1095A>C (p.Glu365Asp) | |
| 2 | g.206127827T= | CA2496479088 | NDUFS1 | c.1854A= (p.Glu618=) c.1683A= (p.Glu561=) c.1521A= (p.Glu507=) c.1746A= (p.Glu582=) c.1896A= (p.Glu632=) c.1506A= (p.Glu502=) n.326A= c.1095A= (p.Glu365=) | |
| 2 | g.206127828T>A | CA350042953 | NDUFS1 | c.1853A>T (p.Glu618Val) c.1682A>T (p.Glu561Val) c.1520A>T (p.Glu507Val) c.1745A>T (p.Glu582Val) c.1895A>T (p.Glu632Val) c.1505A>T (p.Glu502Val) n.325A>T c.1094A>T (p.Glu365Val) | |
| 2 | g.206127828T>C | CA2070340 | NDUFS1 | c.1853A>G (p.Glu618Gly) c.1682A>G (p.Glu561Gly) c.1520A>G (p.Glu507Gly) c.1745A>G (p.Glu582Gly) c.1895A>G (p.Glu632Gly) c.1505A>G (p.Glu502Gly) n.325A>G c.1094A>G (p.Glu365Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.206127828T>G | CA350042956 | NDUFS1 | c.1853A>C (p.Glu618Ala) c.1682A>C (p.Glu561Ala) c.1520A>C (p.Glu507Ala) c.1745A>C (p.Glu582Ala) c.1895A>C (p.Glu632Ala) c.1505A>C (p.Glu502Ala) n.325A>C c.1094A>C (p.Glu365Ala) | |
| 2 | g.206127828T= | CA2496479089 | NDUFS1 | c.1853A= (p.Glu618=) c.1682A= (p.Glu561=) c.1520A= (p.Glu507=) c.1745A= (p.Glu582=) c.1895A= (p.Glu632=) c.1505A= (p.Glu502=) n.325A= c.1094A= (p.Glu365=) | |
| 2 | g.206127829C>A | CA350042967 | NDUFS1 | c.1852G>T (p.Glu618Ter) c.1681G>T (p.Glu561Ter) c.1519G>T (p.Glu507Ter) c.1744G>T (p.Glu582Ter) c.1894G>T (p.Glu632Ter) c.1504G>T (p.Glu502Ter) n.324G>T c.1093G>T (p.Glu365Ter) | gnomAD v4 |
| 2 | g.206127829C>G | CA350042964 | NDUFS1 | c.1852G>C (p.Glu618Gln) c.1681G>C (p.Glu561Gln) c.1519G>C (p.Glu507Gln) c.1744G>C (p.Glu582Gln) c.1894G>C (p.Glu632Gln) c.1504G>C (p.Glu502Gln) n.324G>C c.1093G>C (p.Glu365Gln) | |
| 2 | g.206127829C>T | CA350042961 | NDUFS1 | c.1852G>A (p.Glu618Lys) c.1681G>A (p.Glu561Lys) c.1519G>A (p.Glu507Lys) c.1744G>A (p.Glu582Lys) c.1894G>A (p.Glu632Lys) c.1504G>A (p.Glu502Lys) n.324G>A c.1093G>A (p.Glu365Lys) | gnomAD v4 |
| 2 | g.206127830T>A | CA350042971 | NDUFS1 | c.1851A>T (p.Arg617Ser) c.1680A>T (p.Arg560Ser) c.1518A>T (p.Arg506Ser) c.1743A>T (p.Arg581Ser) c.1893A>T (p.Arg631Ser) c.1503A>T (p.Arg501Ser) n.323A>T c.1092A>T (p.Arg364Ser) | |
| 2 | g.206127830T>C | CA430942945 | NDUFS1 | c.1851A>G (p.Arg617=) c.1680A>G (p.Arg560=) c.1518A>G (p.Arg506=) c.1743A>G (p.Arg581=) c.1893A>G (p.Arg631=) c.1503A>G (p.Arg501=) n.323A>G c.1092A>G (p.Arg364=) | |
| 2 | g.206127830T>G | CA350042979 | NDUFS1 | c.1851A>C (p.Arg617Ser) c.1680A>C (p.Arg560Ser) c.1518A>C (p.Arg506Ser) c.1743A>C (p.Arg581Ser) c.1893A>C (p.Arg631Ser) c.1503A>C (p.Arg501Ser) n.323A>C c.1092A>C (p.Arg364Ser) | |
| 2 | g.206127831C>A | CA350042981 | NDUFS1 | c.1850G>T (p.Arg617Ile) c.1679G>T (p.Arg560Ile) c.1517G>T (p.Arg506Ile) c.1742G>T (p.Arg581Ile) c.1892G>T (p.Arg631Ile) c.1502G>T (p.Arg501Ile) n.322G>T c.1091G>T (p.Arg364Ile) | |
| 2 | g.206127831C>G | CA350042983 | NDUFS1 | c.1850G>C (p.Arg617Thr) c.1679G>C (p.Arg560Thr) c.1517G>C (p.Arg506Thr) c.1742G>C (p.Arg581Thr) c.1892G>C (p.Arg631Thr) c.1502G>C (p.Arg501Thr) n.322G>C c.1091G>C (p.Arg364Thr) | |
| 2 | g.206127831C>T | CA350042986 | NDUFS1 | c.1850G>A (p.Arg617Lys) c.1679G>A (p.Arg560Lys) c.1517G>A (p.Arg506Lys) c.1742G>A (p.Arg581Lys) c.1892G>A (p.Arg631Lys) c.1502G>A (p.Arg501Lys) n.322G>A c.1091G>A (p.Arg364Lys) | |
| 2 | g.206127832T>A | CA350042988 | NDUFS1 | c.1849A>T (p.Arg617Ter) c.1678A>T (p.Arg560Ter) c.1516A>T (p.Arg506Ter) c.1741A>T (p.Arg581Ter) c.1891A>T (p.Arg631Ter) c.1501A>T (p.Arg501Ter) n.321A>T c.1090A>T (p.Arg364Ter) | |
| 2 | g.206127832T>C | CA2070341 | NDUFS1 | c.1849A>G (p.Arg617Gly) c.1678A>G (p.Arg560Gly) c.1516A>G (p.Arg506Gly) c.1741A>G (p.Arg581Gly) c.1891A>G (p.Arg631Gly) c.1501A>G (p.Arg501Gly) n.321A>G c.1090A>G (p.Arg364Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.206127832T>G | CA430942954 | NDUFS1 | c.1849A>C (p.Arg617=) c.1678A>C (p.Arg560=) c.1516A>C (p.Arg506=) c.1741A>C (p.Arg581=) c.1891A>C (p.Arg631=) c.1501A>C (p.Arg501=) n.321A>C c.1090A>C (p.Arg364=) | |
| 2 | g.206127832T= | CA2496479090 | NDUFS1 | c.1849A= (p.Arg617=) c.1678A= (p.Arg560=) c.1516A= (p.Arg506=) c.1741A= (p.Arg581=) c.1891A= (p.Arg631=) c.1501A= (p.Arg501=) n.321A= c.1090A= (p.Arg364=) | |
| 2 | g.206127833T>A | CA430942961 | NDUFS1 | c.1848A>T (p.Ala616=) c.1677A>T (p.Ala559=) c.1515A>T (p.Ala505=) c.1740A>T (p.Ala580=) c.1890A>T (p.Ala630=) c.1500A>T (p.Ala500=) n.320A>T c.1089A>T (p.Ala363=) | |
| 2 | g.206127833T>C | CA430942959 | NDUFS1 | c.1848A>G (p.Ala616=) c.1677A>G (p.Ala559=) c.1515A>G (p.Ala505=) c.1740A>G (p.Ala580=) c.1890A>G (p.Ala630=) c.1500A>G (p.Ala500=) n.320A>G c.1089A>G (p.Ala363=) | |
| 2 | g.206127833T>G | CA430942956 | NDUFS1 | c.1848A>C (p.Ala616=) c.1677A>C (p.Ala559=) c.1515A>C (p.Ala505=) c.1740A>C (p.Ala580=) c.1890A>C (p.Ala630=) c.1500A>C (p.Ala500=) n.320A>C c.1089A>C (p.Ala363=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.206127833T= | CA2496479091 | NDUFS1 | c.1848A= (p.Ala616=) c.1677A= (p.Ala559=) c.1515A= (p.Ala505=) c.1740A= (p.Ala580=) c.1890A= (p.Ala630=) c.1500A= (p.Ala500=) n.320A= c.1089A= (p.Ala363=) | |
| 2 | g.206127834G>A | CA350042992 | NDUFS1 | c.1847C>T (p.Ala616Val) c.1676C>T (p.Ala559Val) c.1514C>T (p.Ala505Val) c.1739C>T (p.Ala580Val) c.1889C>T (p.Ala630Val) c.1499C>T (p.Ala500Val) n.319C>T c.1088C>T (p.Ala363Val) | gnomAD v4 |
| 2 | g.206127834G>C | CA350042994 | NDUFS1 | c.1847C>G (p.Ala616Gly) c.1676C>G (p.Ala559Gly) c.1514C>G (p.Ala505Gly) c.1739C>G (p.Ala580Gly) c.1889C>G (p.Ala630Gly) c.1499C>G (p.Ala500Gly) n.319C>G c.1088C>G (p.Ala363Gly) | dbSNP |
| 2 | g.206127834G= | CA2496479092 | NDUFS1 | c.1847C= (p.Ala616=) c.1676C= (p.Ala559=) c.1514C= (p.Ala505=) c.1739C= (p.Ala580=) c.1889C= (p.Ala630=) c.1499C= (p.Ala500=) n.319C= c.1088C= (p.Ala363=) | |
| 2 | g.206127834G>T | CA350042996 | NDUFS1 | c.1847C>A (p.Ala616Glu) c.1676C>A (p.Ala559Glu) c.1514C>A (p.Ala505Glu) c.1739C>A (p.Ala580Glu) c.1889C>A (p.Ala630Glu) c.1499C>A (p.Ala500Glu) n.319C>A c.1088C>A (p.Ala363Glu) | |
| 2 | g.206127835C>A | CA350043004 | NDUFS1 | c.1846G>T (p.Ala616Ser) c.1675G>T (p.Ala559Ser) c.1513G>T (p.Ala505Ser) c.1738G>T (p.Ala580Ser) c.1888G>T (p.Ala630Ser) c.1498G>T (p.Ala500Ser) n.318G>T c.1087G>T (p.Ala363Ser) | gnomAD v4 |
| 2 | g.206127835C>G | CA350043006 | NDUFS1 | c.1846G>C (p.Ala616Pro) c.1675G>C (p.Ala559Pro) c.1513G>C (p.Ala505Pro) c.1738G>C (p.Ala580Pro) c.1888G>C (p.Ala630Pro) c.1498G>C (p.Ala500Pro) n.318G>C c.1087G>C (p.Ala363Pro) | |
| 2 | g.206127835C>T | CA350043010 | NDUFS1 | c.1846G>A (p.Ala616Thr) c.1675G>A (p.Ala559Thr) c.1513G>A (p.Ala505Thr) c.1738G>A (p.Ala580Thr) c.1888G>A (p.Ala630Thr) c.1498G>A (p.Ala500Thr) n.318G>A c.1087G>A (p.Ala363Thr) | |
| 2 | g.206127836C>A | CA350043015 | NDUFS1 | c.1845G>T (p.Leu615Phe) c.1674G>T (p.Leu558Phe) c.1512G>T (p.Leu504Phe) c.1737G>T (p.Leu579Phe) c.1887G>T (p.Leu629Phe) c.1497G>T (p.Leu499Phe) n.317G>T c.1086G>T (p.Leu362Phe) | |
| 2 | g.206127836C>G | CA350043018 | NDUFS1 | c.1845G>C (p.Leu615Phe) c.1674G>C (p.Leu558Phe) c.1512G>C (p.Leu504Phe) c.1737G>C (p.Leu579Phe) c.1887G>C (p.Leu629Phe) c.1497G>C (p.Leu499Phe) n.317G>C c.1086G>C (p.Leu362Phe) | |
| 2 | g.206127836C>T | CA430942972 | NDUFS1 | c.1845G>A (p.Leu615=) c.1674G>A (p.Leu558=) c.1512G>A (p.Leu504=) c.1737G>A (p.Leu579=) c.1887G>A (p.Leu629=) c.1497G>A (p.Leu499=) n.317G>A c.1086G>A (p.Leu362=) | |
| 2 | g.206127837A= | CA2496479093 | NDUFS1 | c.1844T= (p.Leu615=) c.1673T= (p.Leu558=) c.1511T= (p.Leu504=) c.1736T= (p.Leu579=) c.1886T= (p.Leu629=) c.1496T= (p.Leu499=) n.316T= c.1085T= (p.Leu362=) | |
| 2 | g.206127837A>C | CA350043026 | NDUFS1 | c.1844T>G (p.Leu615Trp) c.1673T>G (p.Leu558Trp) c.1511T>G (p.Leu504Trp) c.1736T>G (p.Leu579Trp) c.1886T>G (p.Leu629Trp) c.1496T>G (p.Leu499Trp) n.316T>G c.1085T>G (p.Leu362Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.206127837A>G | CA350043028 | NDUFS1 | c.1844T>C (p.Leu615Ser) c.1673T>C (p.Leu558Ser) c.1511T>C (p.Leu504Ser) c.1736T>C (p.Leu579Ser) c.1886T>C (p.Leu629Ser) c.1496T>C (p.Leu499Ser) n.316T>C c.1085T>C (p.Leu362Ser) | |
| 2 | g.206127837A>T | CA350043032 | NDUFS1 | c.1844T>A (p.Leu615Ter) c.1673T>A (p.Leu558Ter) c.1511T>A (p.Leu504Ter) c.1736T>A (p.Leu579Ter) c.1886T>A (p.Leu629Ter) c.1496T>A (p.Leu499Ter) n.316T>A c.1085T>A (p.Leu362Ter) | |
| 2 | g.206127838A>C | CA350043035 | NDUFS1 | c.1843T>G (p.Leu615Val) c.1672T>G (p.Leu558Val) c.1510T>G (p.Leu504Val) c.1735T>G (p.Leu579Val) c.1885T>G (p.Leu629Val) c.1495T>G (p.Leu499Val) n.315T>G c.1084T>G (p.Leu362Val) | |
| 2 | g.206127838A>G | CA430942978 | NDUFS1 | c.1843T>C (p.Leu615=) c.1672T>C (p.Leu558=) c.1510T>C (p.Leu504=) c.1735T>C (p.Leu579=) c.1885T>C (p.Leu629=) c.1495T>C (p.Leu499=) n.315T>C c.1084T>C (p.Leu362=) | |
| 2 | g.206127838A>T | CA350043038 | NDUFS1 | c.1843T>A (p.Leu615Met) c.1672T>A (p.Leu558Met) c.1510T>A (p.Leu504Met) c.1735T>A (p.Leu579Met) c.1885T>A (p.Leu629Met) c.1495T>A (p.Leu499Met) n.315T>A c.1084T>A (p.Leu362Met) | |
| 2 | g.206127839G>A | CA430942982 | NDUFS1 | c.1842C>T (p.Gly614=) c.1671C>T (p.Gly557=) c.1509C>T (p.Gly503=) c.1734C>T (p.Gly578=) c.1884C>T (p.Gly628=) c.1494C>T (p.Gly498=) n.314C>T c.1083C>T (p.Gly361=) | |
| 2 | g.206127839G>C | CA430942983 | NDUFS1 | c.1842C>G (p.Gly614=) c.1671C>G (p.Gly557=) c.1509C>G (p.Gly503=) c.1734C>G (p.Gly578=) c.1884C>G (p.Gly628=) c.1494C>G (p.Gly498=) n.314C>G c.1083C>G (p.Gly361=) | |
| 2 | g.206127839G>T | CA430942985 | NDUFS1 | c.1842C>A (p.Gly614=) c.1671C>A (p.Gly557=) c.1509C>A (p.Gly503=) c.1734C>A (p.Gly578=) c.1884C>A (p.Gly628=) c.1494C>A (p.Gly498=) n.314C>A c.1083C>A (p.Gly361=) | |
| 2 | g.206127840C>A | CA350043041 | NDUFS1 | c.1841G>T (p.Gly614Val) c.1670G>T (p.Gly557Val) c.1508G>T (p.Gly503Val) c.1733G>T (p.Gly578Val) c.1883G>T (p.Gly628Val) c.1493G>T (p.Gly498Val) n.313G>T c.1082G>T (p.Gly361Val) | |
| 2 | g.206127840C>G | CA350043042 | NDUFS1 | c.1841G>C (p.Gly614Ala) c.1670G>C (p.Gly557Ala) c.1508G>C (p.Gly503Ala) c.1733G>C (p.Gly578Ala) c.1883G>C (p.Gly628Ala) c.1493G>C (p.Gly498Ala) n.313G>C c.1082G>C (p.Gly361Ala) | |
| 2 | g.206127840C>T | CA350043044 | NDUFS1 | c.1841G>A (p.Gly614Asp) c.1670G>A (p.Gly557Asp) c.1508G>A (p.Gly503Asp) c.1733G>A (p.Gly578Asp) c.1883G>A (p.Gly628Asp) c.1493G>A (p.Gly498Asp) n.313G>A c.1082G>A (p.Gly361Asp) | |
| 2 | g.206127841C>A | CA350043047 | NDUFS1 | c.1840G>T (p.Gly614Cys) c.1669G>T (p.Gly557Cys) c.1507G>T (p.Gly503Cys) c.1732G>T (p.Gly578Cys) c.1882G>T (p.Gly628Cys) c.1492G>T (p.Gly498Cys) n.312G>T c.1081G>T (p.Gly361Cys) | |
| 2 | g.206127841C>G | CA350043049 | NDUFS1 | c.1840G>C (p.Gly614Arg) c.1669G>C (p.Gly557Arg) c.1507G>C (p.Gly503Arg) c.1732G>C (p.Gly578Arg) c.1882G>C (p.Gly628Arg) c.1492G>C (p.Gly498Arg) n.312G>C c.1081G>C (p.Gly361Arg) | |
| 2 | g.206127841C>T | CA350043050 | NDUFS1 | c.1840G>A (p.Gly614Ser) c.1669G>A (p.Gly557Ser) c.1507G>A (p.Gly503Ser) c.1732G>A (p.Gly578Ser) c.1882G>A (p.Gly628Ser) c.1492G>A (p.Gly498Ser) n.312G>A c.1081G>A (p.Gly361Ser) | |
| 2 | g.206127842A= | CA2496479094 | NDUFS1 | c.1839T= (p.Pro613=) c.1668T= (p.Pro556=) c.1506T= (p.Pro502=) c.1731T= (p.Pro577=) c.1881T= (p.Pro627=) c.1491T= (p.Pro497=) n.311T= c.1080T= (p.Pro360=) | |
| 2 | g.206127842A>C | CA430942994 | NDUFS1 | c.1839T>G (p.Pro613=) c.1668T>G (p.Pro556=) c.1506T>G (p.Pro502=) c.1731T>G (p.Pro577=) c.1881T>G (p.Pro627=) c.1491T>G (p.Pro497=) n.311T>G c.1080T>G (p.Pro360=) | |
| 2 | g.206127842A>G | CA430942995 | NDUFS1 | c.1839T>C (p.Pro613=) c.1668T>C (p.Pro556=) c.1506T>C (p.Pro502=) c.1731T>C (p.Pro577=) c.1881T>C (p.Pro627=) c.1491T>C (p.Pro497=) n.311T>C c.1080T>C (p.Pro360=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.206127842A>T | CA430942997 | NDUFS1 | c.1839T>A (p.Pro613=) c.1668T>A (p.Pro556=) c.1506T>A (p.Pro502=) c.1731T>A (p.Pro577=) c.1881T>A (p.Pro627=) c.1491T>A (p.Pro497=) n.311T>A c.1080T>A (p.Pro360=) | |
| 2 | g.206127843G>A | CA350043053 | NDUFS1 | c.1838C>T (p.Pro613Leu) c.1667C>T (p.Pro556Leu) c.1505C>T (p.Pro502Leu) c.1730C>T (p.Pro577Leu) c.1880C>T (p.Pro627Leu) c.1490C>T (p.Pro497Leu) n.310C>T c.1079C>T (p.Pro360Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.206127843G>C | CA350043052 | NDUFS1 | c.1838C>G (p.Pro613Arg) c.1667C>G (p.Pro556Arg) c.1505C>G (p.Pro502Arg) c.1730C>G (p.Pro577Arg) c.1880C>G (p.Pro627Arg) c.1490C>G (p.Pro497Arg) n.310C>G c.1079C>G (p.Pro360Arg) | |
| 2 | g.206127843G= | CA2496479095 | NDUFS1 | c.1838C= (p.Pro613=) c.1667C= (p.Pro556=) c.1505C= (p.Pro502=) c.1730C= (p.Pro577=) c.1880C= (p.Pro627=) c.1490C= (p.Pro497=) n.310C= c.1079C= (p.Pro360=) | |
| 2 | g.206127843G>T | CA350043051 | NDUFS1 | c.1838C>A (p.Pro613His) c.1667C>A (p.Pro556His) c.1505C>A (p.Pro502His) c.1730C>A (p.Pro577His) c.1880C>A (p.Pro627His) c.1490C>A (p.Pro497His) n.310C>A c.1079C>A (p.Pro360His) | |
| 2 | g.206127844G>A | CA63648644 | NDUFS1 | c.1837C>T (p.Pro613Ser) c.1666C>T (p.Pro556Ser) c.1504C>T (p.Pro502Ser) c.1729C>T (p.Pro577Ser) c.1879C>T (p.Pro627Ser) c.1489C>T (p.Pro497Ser) n.309C>T c.1078C>T (p.Pro360Ser) | dbSNP gnomAD v2 |
| 2 | g.206127844G>C | CA350043055 | NDUFS1 | c.1837C>G (p.Pro613Ala) c.1666C>G (p.Pro556Ala) c.1504C>G (p.Pro502Ala) c.1729C>G (p.Pro577Ala) c.1879C>G (p.Pro627Ala) c.1489C>G (p.Pro497Ala) n.309C>G c.1078C>G (p.Pro360Ala) | |
| 2 | g.206127844G= | CA2496479096 | NDUFS1 | c.1837C= (p.Pro613=) c.1666C= (p.Pro556=) c.1504C= (p.Pro502=) c.1729C= (p.Pro577=) c.1879C= (p.Pro627=) c.1489C= (p.Pro497=) n.309C= c.1078C= (p.Pro360=) | |
| 2 | g.206127844G>T | CA350043057 | NDUFS1 | c.1837C>A (p.Pro613Thr) c.1666C>A (p.Pro556Thr) c.1504C>A (p.Pro502Thr) c.1729C>A (p.Pro577Thr) c.1879C>A (p.Pro627Thr) c.1489C>A (p.Pro497Thr) n.309C>A c.1078C>A (p.Pro360Thr) | |
| 2 | g.206127845A>C | CA430943007 | NDUFS1 | c.1836T>G (p.Pro612=) c.1665T>G (p.Pro555=) c.1503T>G (p.Pro501=) c.1728T>G (p.Pro576=) c.1878T>G (p.Pro626=) c.1488T>G (p.Pro496=) n.308T>G c.1077T>G (p.Pro359=) | |
| 2 | g.206127845A>G | CA430943009 | NDUFS1 | c.1836T>C (p.Pro612=) c.1665T>C (p.Pro555=) c.1503T>C (p.Pro501=) c.1728T>C (p.Pro576=) c.1878T>C (p.Pro626=) c.1488T>C (p.Pro496=) n.308T>C c.1077T>C (p.Pro359=) | |
| 2 | g.206127845A>T | CA430943011 | NDUFS1 | c.1836T>A (p.Pro612=) c.1665T>A (p.Pro555=) c.1503T>A (p.Pro501=) c.1728T>A (p.Pro576=) c.1878T>A (p.Pro626=) c.1488T>A (p.Pro496=) n.308T>A c.1077T>A (p.Pro359=) | |
| 2 | g.206127846G>A | CA350043059 | NDUFS1 | c.1835C>T (p.Pro612Leu) c.1664C>T (p.Pro555Leu) c.1502C>T (p.Pro501Leu) c.1727C>T (p.Pro576Leu) c.1877C>T (p.Pro626Leu) c.1487C>T (p.Pro496Leu) n.307C>T c.1076C>T (p.Pro359Leu) | |
| 2 | g.206127846G>C | CA350043060 | NDUFS1 | c.1835C>G (p.Pro612Arg) c.1664C>G (p.Pro555Arg) c.1502C>G (p.Pro501Arg) c.1727C>G (p.Pro576Arg) c.1877C>G (p.Pro626Arg) c.1487C>G (p.Pro496Arg) n.307C>G c.1076C>G (p.Pro359Arg) | |
| 2 | g.206127846G>T | CA350043063 | NDUFS1 | c.1835C>A (p.Pro612His) c.1664C>A (p.Pro555His) c.1502C>A (p.Pro501His) c.1727C>A (p.Pro576His) c.1877C>A (p.Pro626His) c.1487C>A (p.Pro496His) n.307C>A c.1076C>A (p.Pro359His) | |
| 2 | g.206127847G>A | CA350043065 | NDUFS1 | c.1834C>T (p.Pro612Ser) c.1663C>T (p.Pro555Ser) c.1501C>T (p.Pro501Ser) c.1726C>T (p.Pro576Ser) c.1876C>T (p.Pro626Ser) c.1486C>T (p.Pro496Ser) n.306C>T c.1075C>T (p.Pro359Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.206127847G>C | CA350043069 | NDUFS1 | c.1834C>G (p.Pro612Ala) c.1663C>G (p.Pro555Ala) c.1501C>G (p.Pro501Ala) c.1726C>G (p.Pro576Ala) c.1876C>G (p.Pro626Ala) c.1486C>G (p.Pro496Ala) n.306C>G c.1075C>G (p.Pro359Ala) | |
| 2 | g.206127847G= | CA2496479097 | NDUFS1 | c.1834C= (p.Pro612=) c.1663C= (p.Pro555=) c.1501C= (p.Pro501=) c.1726C= (p.Pro576=) c.1876C= (p.Pro626=) c.1486C= (p.Pro496=) n.306C= c.1075C= (p.Pro359=) | |
| 2 | g.206127847G>T | CA350043072 | NDUFS1 | c.1834C>A (p.Pro612Thr) c.1663C>A (p.Pro555Thr) c.1501C>A (p.Pro501Thr) c.1726C>A (p.Pro576Thr) c.1876C>A (p.Pro626Thr) c.1486C>A (p.Pro496Thr) n.306C>A c.1075C>A (p.Pro359Thr) | |
| 2 | g.206127848T>A | CA430943019 | NDUFS1 | c.1833A>T (p.Thr611=) c.1662A>T (p.Thr554=) c.1500A>T (p.Thr500=) c.1725A>T (p.Thr575=) c.1875A>T (p.Thr625=) c.1485A>T (p.Thr495=) n.305A>T c.1074A>T (p.Thr358=) | |
| 2 | g.206127848T>C | CA2070342 | NDUFS1 | c.1833A>G (p.Thr611=) c.1662A>G (p.Thr554=) c.1500A>G (p.Thr500=) c.1725A>G (p.Thr575=) c.1875A>G (p.Thr625=) c.1485A>G (p.Thr495=) n.305A>G c.1074A>G (p.Thr358=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.206127848T>G | CA430943023 | NDUFS1 | c.1833A>C (p.Thr611=) c.1662A>C (p.Thr554=) c.1500A>C (p.Thr500=) c.1725A>C (p.Thr575=) c.1875A>C (p.Thr625=) c.1485A>C (p.Thr495=) n.305A>C c.1074A>C (p.Thr358=) | |
| 2 | g.206127848T= | CA2496479098 | NDUFS1 | c.1833A= (p.Thr611=) c.1662A= (p.Thr554=) c.1500A= (p.Thr500=) c.1725A= (p.Thr575=) c.1875A= (p.Thr625=) c.1485A= (p.Thr495=) n.305A= c.1074A= (p.Thr358=) | |
| 2 | g.206127849G>A | CA350043076 | NDUFS1 | c.1832C>T (p.Thr611Ile) c.1661C>T (p.Thr554Ile) c.1499C>T (p.Thr500Ile) c.1724C>T (p.Thr575Ile) c.1874C>T (p.Thr625Ile) c.1484C>T (p.Thr495Ile) n.304C>T c.1073C>T (p.Thr358Ile) | |
| 2 | g.206127849G>C | CA350043078 | NDUFS1 | c.1832C>G (p.Thr611Arg) c.1661C>G (p.Thr554Arg) c.1499C>G (p.Thr500Arg) c.1724C>G (p.Thr575Arg) c.1874C>G (p.Thr625Arg) c.1484C>G (p.Thr495Arg) n.304C>G c.1073C>G (p.Thr358Arg) | |
| 2 | g.206127849G>T | CA350043080 | NDUFS1 | c.1832C>A (p.Thr611Lys) c.1661C>A (p.Thr554Lys) c.1499C>A (p.Thr500Lys) c.1724C>A (p.Thr575Lys) c.1874C>A (p.Thr625Lys) c.1484C>A (p.Thr495Lys) n.304C>A c.1073C>A (p.Thr358Lys) | |
| 2 | g.206127850T>A | CA350043088 | NDUFS1 | c.1831A>T (p.Thr611Ser) c.1660A>T (p.Thr554Ser) c.1498A>T (p.Thr500Ser) c.1723A>T (p.Thr575Ser) c.1873A>T (p.Thr625Ser) c.1483A>T (p.Thr495Ser) n.303A>T c.1072A>T (p.Thr358Ser) | |
| 2 | g.206127850T>C | CA350043085 | NDUFS1 | c.1831A>G (p.Thr611Ala) c.1660A>G (p.Thr554Ala) c.1498A>G (p.Thr500Ala) c.1723A>G (p.Thr575Ala) c.1873A>G (p.Thr625Ala) c.1483A>G (p.Thr495Ala) n.303A>G c.1072A>G (p.Thr358Ala) | |
| 2 | g.206127850T>G | CA350043083 | NDUFS1 | c.1831A>C (p.Thr611Pro) c.1660A>C (p.Thr554Pro) c.1498A>C (p.Thr500Pro) c.1723A>C (p.Thr575Pro) c.1873A>C (p.Thr625Pro) c.1483A>C (p.Thr495Pro) n.303A>C c.1072A>C (p.Thr358Pro) | |
| 2 | g.206127851C>A | CA430943033 | NDUFS1 | c.1830G>T (p.Val610=) c.1659G>T (p.Val553=) c.1497G>T (p.Val499=) c.1722G>T (p.Val574=) c.1872G>T (p.Val624=) c.1482G>T (p.Val494=) n.302G>T c.1071G>T (p.Val357=) | |
| 2 | g.206127851C>G | CA430943035 | NDUFS1 | c.1830G>C (p.Val610=) c.1659G>C (p.Val553=) c.1497G>C (p.Val499=) c.1722G>C (p.Val574=) c.1872G>C (p.Val624=) c.1482G>C (p.Val494=) n.302G>C c.1071G>C (p.Val357=) | |
| 2 | g.206127851C>T | CA430943036 | NDUFS1 | c.1830G>A (p.Val610=) c.1659G>A (p.Val553=) c.1497G>A (p.Val499=) c.1722G>A (p.Val574=) c.1872G>A (p.Val624=) c.1482G>A (p.Val494=) n.302G>A c.1071G>A (p.Val357=) | ClinVar |
| 2 | g.206127852A>C | CA350043097 | NDUFS1 | c.1829T>G (p.Val610Gly) c.1658T>G (p.Val553Gly) c.1496T>G (p.Val499Gly) c.1721T>G (p.Val574Gly) c.1871T>G (p.Val624Gly) c.1481T>G (p.Val494Gly) n.301T>G c.1070T>G (p.Val357Gly) | COSMIC |
| 2 | g.206127852A>G | CA350043099 | NDUFS1 | c.1829T>C (p.Val610Ala) c.1658T>C (p.Val553Ala) c.1496T>C (p.Val499Ala) c.1721T>C (p.Val574Ala) c.1871T>C (p.Val624Ala) c.1481T>C (p.Val494Ala) n.301T>C c.1070T>C (p.Val357Ala) | |
| 2 | g.206127852A>T | CA350043101 | NDUFS1 | c.1829T>A (p.Val610Glu) c.1658T>A (p.Val553Glu) c.1496T>A (p.Val499Glu) c.1721T>A (p.Val574Glu) c.1871T>A (p.Val624Glu) c.1481T>A (p.Val494Glu) n.301T>A c.1070T>A (p.Val357Glu) | |
| 2 | g.206127853C>A | CA350043104 | NDUFS1 | c.1828G>T (p.Val610Leu) c.1657G>T (p.Val553Leu) c.1495G>T (p.Val499Leu) c.1720G>T (p.Val574Leu) c.1870G>T (p.Val624Leu) c.1480G>T (p.Val494Leu) n.300G>T c.1069G>T (p.Val357Leu) | |
| 2 | g.206127853C= | CA2496479099 | NDUFS1 | c.1828G= (p.Val610=) c.1657G= (p.Val553=) c.1495G= (p.Val499=) c.1720G= (p.Val574=) c.1870G= (p.Val624=) c.1480G= (p.Val494=) n.300G= c.1069G= (p.Val357=) | |
| 2 | g.206127853C>G | CA350043126 | NDUFS1 | c.1828G>C (p.Val610Leu) c.1657G>C (p.Val553Leu) c.1495G>C (p.Val499Leu) c.1720G>C (p.Val574Leu) c.1870G>C (p.Val624Leu) c.1480G>C (p.Val494Leu) n.300G>C c.1069G>C (p.Val357Leu) | |
| 2 | g.206127853C>T | CA350043129 | NDUFS1 | c.1828G>A (p.Val610Met) c.1657G>A (p.Val553Met) c.1495G>A (p.Val499Met) c.1720G>A (p.Val574Met) c.1870G>A (p.Val624Met) c.1480G>A (p.Val494Met) n.300G>A c.1069G>A (p.Val357Met) | |
| 2 | g.206127854T>A | CA430943049 | NDUFS1 | c.1827A>T (p.Ala609=) c.1656A>T (p.Ala552=) c.1494A>T (p.Ala498=) c.1719A>T (p.Ala573=) c.1869A>T (p.Ala623=) c.1479A>T (p.Ala493=) n.299A>T c.1068A>T (p.Ala356=) | |
| 2 | g.206127854T>C | CA430943045 | NDUFS1 | c.1827A>G (p.Ala609=) c.1656A>G (p.Ala552=) c.1494A>G (p.Ala498=) c.1719A>G (p.Ala573=) c.1869A>G (p.Ala623=) c.1479A>G (p.Ala493=) n.299A>G c.1068A>G (p.Ala356=) | gnomAD v4 |
| 2 | g.206127854T>G | CA430943047 | NDUFS1 | c.1827A>C (p.Ala609=) c.1656A>C (p.Ala552=) c.1494A>C (p.Ala498=) c.1719A>C (p.Ala573=) c.1869A>C (p.Ala623=) c.1479A>C (p.Ala493=) n.299A>C c.1068A>C (p.Ala356=) | |
| 2 | g.206127854_206127857dup | CA2070343 | NDUFS1 | c.1824_1827dup (p.Val610SerfsTer20) c.1653_1656dup (p.Val553SerfsTer20) c.1491_1494dup (p.Val499SerfsTer20) c.1716_1719dup (p.Val574SerfsTer20) c.1866_1869dup (p.Val624SerfsTer20) c.1476_1479dup (p.Val494SerfsTer20) n.296_299dup c.1065_1068dup (p.Val357SerfsTer20) | dbSNP ExAC gnomAD v4 |
| 2 | g.206127855G>A | CA350043132 | NDUFS1 | c.1826C>T (p.Ala609Val) c.1655C>T (p.Ala552Val) c.1493C>T (p.Ala498Val) c.1718C>T (p.Ala573Val) c.1868C>T (p.Ala623Val) c.1478C>T (p.Ala493Val) n.298C>T c.1067C>T (p.Ala356Val) | |
| 2 | g.206127855G>C | CA350043133 | NDUFS1 | c.1826C>G (p.Ala609Gly) c.1655C>G (p.Ala552Gly) c.1493C>G (p.Ala498Gly) c.1718C>G (p.Ala573Gly) c.1868C>G (p.Ala623Gly) c.1478C>G (p.Ala493Gly) n.298C>G c.1067C>G (p.Ala356Gly) | |
| 2 | g.206127855G>T | CA350043135 | NDUFS1 | c.1826C>A (p.Ala609Glu) c.1655C>A (p.Ala552Glu) c.1493C>A (p.Ala498Glu) c.1718C>A (p.Ala573Glu) c.1868C>A (p.Ala623Glu) c.1478C>A (p.Ala493Glu) n.298C>A c.1067C>A (p.Ala356Glu) | COSMIC COSMIC |
| 2 | g.206127856C>A | CA350043139 | NDUFS1 | c.1825G>T (p.Ala609Ser) c.1654G>T (p.Ala552Ser) c.1492G>T (p.Ala498Ser) c.1717G>T (p.Ala573Ser) c.1867G>T (p.Ala623Ser) c.1477G>T (p.Ala493Ser) n.297G>T c.1066G>T (p.Ala356Ser) | |
| 2 | g.206127856C= | CA2496479100 | NDUFS1 | c.1825G= (p.Ala609=) c.1654G= (p.Ala552=) c.1492G= (p.Ala498=) c.1717G= (p.Ala573=) c.1867G= (p.Ala623=) c.1477G= (p.Ala493=) n.297G= c.1066G= (p.Ala356=) | |
| 2 | g.206127856C>G | CA350043142 | NDUFS1 | c.1825G>C (p.Ala609Pro) c.1654G>C (p.Ala552Pro) c.1492G>C (p.Ala498Pro) c.1717G>C (p.Ala573Pro) c.1867G>C (p.Ala623Pro) c.1477G>C (p.Ala493Pro) n.297G>C c.1066G>C (p.Ala356Pro) | |
| 2 | g.206127856C>T | CA2070344 | NDUFS1 | c.1825G>A (p.Ala609Thr) c.1654G>A (p.Ala552Thr) c.1492G>A (p.Ala498Thr) c.1717G>A (p.Ala573Thr) c.1867G>A (p.Ala623Thr) c.1477G>A (p.Ala493Thr) n.297G>A c.1066G>A (p.Ala356Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.206127857T>A | CA430943063 | NDUFS1 | c.1824A>T (p.Val608=) c.1653A>T (p.Val551=) c.1491A>T (p.Val497=) c.1716A>T (p.Val572=) c.1866A>T (p.Val622=) c.1476A>T (p.Val492=) n.296A>T c.1065A>T (p.Val355=) | COSMIC |
| 2 | g.206127857T>C | CA430943065 | NDUFS1 | c.1824A>G (p.Val608=) c.1653A>G (p.Val551=) c.1491A>G (p.Val497=) c.1716A>G (p.Val572=) c.1866A>G (p.Val622=) c.1476A>G (p.Val492=) n.296A>G c.1065A>G (p.Val355=) | |
| 2 | g.206127857T>G | CA430943066 | NDUFS1 | c.1824A>C (p.Val608=) c.1653A>C (p.Val551=) c.1491A>C (p.Val497=) c.1716A>C (p.Val572=) c.1866A>C (p.Val622=) c.1476A>C (p.Val492=) n.296A>C c.1065A>C (p.Val355=) | gnomAD v4 |
| 2 | g.206127858A>C | CA350043144 | NDUFS1 | c.1823T>G (p.Val608Gly) c.1652T>G (p.Val551Gly) c.1490T>G (p.Val497Gly) c.1715T>G (p.Val572Gly) c.1865T>G (p.Val622Gly) c.1475T>G (p.Val492Gly) n.295T>G c.1064T>G (p.Val355Gly) | |
| 2 | g.206127858A>G | CA350043145 | NDUFS1 | c.1823T>C (p.Val608Ala) c.1652T>C (p.Val551Ala) c.1490T>C (p.Val497Ala) c.1715T>C (p.Val572Ala) c.1865T>C (p.Val622Ala) c.1475T>C (p.Val492Ala) n.295T>C c.1064T>C (p.Val355Ala) | |
| 2 | g.206127858A>T | CA350043143 | NDUFS1 | c.1823T>A (p.Val608Glu) c.1652T>A (p.Val551Glu) c.1490T>A (p.Val497Glu) c.1715T>A (p.Val572Glu) c.1865T>A (p.Val622Glu) c.1475T>A (p.Val492Glu) n.295T>A c.1064T>A (p.Val355Glu) | |
| 2 | g.206127859C>A | CA350043147 | NDUFS1 | c.1822G>T (p.Val608Leu) c.1651G>T (p.Val551Leu) c.1489G>T (p.Val497Leu) c.1714G>T (p.Val572Leu) c.1864G>T (p.Val622Leu) c.1474G>T (p.Val492Leu) n.294G>T c.1063G>T (p.Val355Leu) | |
| 2 | g.206127859C>G | CA350043150 | NDUFS1 | c.1822G>C (p.Val608Leu) c.1651G>C (p.Val551Leu) c.1489G>C (p.Val497Leu) c.1714G>C (p.Val572Leu) c.1864G>C (p.Val622Leu) c.1474G>C (p.Val492Leu) n.294G>C c.1063G>C (p.Val355Leu) | |
| 2 | g.206127859C>T | CA350043154 | NDUFS1 | c.1822G>A (p.Val608Ile) c.1651G>A (p.Val551Ile) c.1489G>A (p.Val497Ile) c.1714G>A (p.Val572Ile) c.1864G>A (p.Val622Ile) c.1474G>A (p.Val492Ile) n.294G>A c.1063G>A (p.Val355Ile) | gnomAD v4 |
| 2 | g.206127860C>A | CA350043157 | NDUFS1 | c.1821G>T (p.Lys607Asn) c.1650G>T (p.Lys550Asn) c.1488G>T (p.Lys496Asn) c.1713G>T (p.Lys571Asn) c.1863G>T (p.Lys621Asn) c.1473G>T (p.Lys491Asn) n.293G>T c.1062G>T (p.Lys354Asn) | |
| 2 | g.206127860C>G | CA350043162 | NDUFS1 | c.1821G>C (p.Lys607Asn) c.1650G>C (p.Lys550Asn) c.1488G>C (p.Lys496Asn) c.1713G>C (p.Lys571Asn) c.1863G>C (p.Lys621Asn) c.1473G>C (p.Lys491Asn) n.293G>C c.1062G>C (p.Lys354Asn) | |
| 2 | g.206127860C>T | CA430943078 | NDUFS1 | c.1821G>A (p.Lys607=) c.1650G>A (p.Lys550=) c.1488G>A (p.Lys496=) c.1713G>A (p.Lys571=) c.1863G>A (p.Lys621=) c.1473G>A (p.Lys491=) n.293G>A c.1062G>A (p.Lys354=) | gnomAD v4 |
| 2 | g.206127861T>A | CA350043166 | NDUFS1 | c.1820A>T (p.Lys607Met) c.1649A>T (p.Lys550Met) c.1487A>T (p.Lys496Met) c.1712A>T (p.Lys571Met) c.1862A>T (p.Lys621Met) c.1472A>T (p.Lys491Met) n.292A>T c.1061A>T (p.Lys354Met) | |
| 2 | g.206127861T>C | CA350043168 | NDUFS1 | c.1820A>G (p.Lys607Arg) c.1649A>G (p.Lys550Arg) c.1487A>G (p.Lys496Arg) c.1712A>G (p.Lys571Arg) c.1862A>G (p.Lys621Arg) c.1472A>G (p.Lys491Arg) n.292A>G c.1061A>G (p.Lys354Arg) | |
| 2 | g.206127861T>G | CA350043170 | NDUFS1 | c.1820A>C (p.Lys607Thr) c.1649A>C (p.Lys550Thr) c.1487A>C (p.Lys496Thr) c.1712A>C (p.Lys571Thr) c.1862A>C (p.Lys621Thr) c.1472A>C (p.Lys491Thr) n.292A>C c.1061A>C (p.Lys354Thr) | |
| 2 | g.206127862T>A | CA350043174 | NDUFS1 | c.1819A>T (p.Lys607Ter) c.1648A>T (p.Lys550Ter) c.1486A>T (p.Lys496Ter) c.1711A>T (p.Lys571Ter) c.1861A>T (p.Lys621Ter) c.1471A>T (p.Lys491Ter) n.291A>T c.1060A>T (p.Lys354Ter) | |
| 2 | g.206127862T>C | CA350043178 | NDUFS1 | c.1819A>G (p.Lys607Glu) c.1648A>G (p.Lys550Glu) c.1486A>G (p.Lys496Glu) c.1711A>G (p.Lys571Glu) c.1861A>G (p.Lys621Glu) c.1471A>G (p.Lys491Glu) n.291A>G c.1060A>G (p.Lys354Glu) | |
| 2 | g.206127862T>G | CA350043193 | NDUFS1 | c.1819A>C (p.Lys607Gln) c.1648A>C (p.Lys550Gln) c.1486A>C (p.Lys496Gln) c.1711A>C (p.Lys571Gln) c.1861A>C (p.Lys621Gln) c.1471A>C (p.Lys491Gln) n.291A>C c.1060A>C (p.Lys354Gln) |