| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.38144261_38144278del | CA2686931572 | STAR | c.857_*16del (n.[c.857_*16del;Ter286SerextTer24]) n.2826_2843del c.699_716del c.763_780del (p.Glu255_Val260del) | gnomAD v4 |
| 8 | g.38144259C>A | CA2686931573 | STAR | c.*14G>T (n.*14G>T) n.2841G>T c.714G>T c.778G>T (p.Val260Phe) | gnomAD v4 |
| 8 | g.38144260A>C | CA2739983439 | STAR | c.*13T>G (n.*13T>G) n.2840T>G c.713T>G c.777T>G (p.Ala259=) | |
| 8 | g.38144260A>G | CA2686931574 | STAR | c.*13T>C (n.*13T>C) n.2840T>C c.713T>C c.777T>C (p.Ala259=) | gnomAD v4 |
| 8 | g.38144260A>T | CA2739983440 | STAR | c.*13T>A (n.*13T>A) n.2840T>A c.713T>A c.777T>A (p.Ala259=) | |
| 8 | g.38144261G>A | CA2686931575 | STAR | c.*12C>T (n.*12C>T) n.2839C>T c.712C>T c.776C>T (p.Ala259Val) | gnomAD v4 |
| 8 | g.38144261G>C | CA2739983441 | STAR | c.*12C>G (n.*12C>G) n.2839C>G c.712C>G c.776C>G (p.Ala259Gly) | |
| 8 | g.38144261G>T | CA2739983442 | STAR | c.*12C>A (n.*12C>A) n.2839C>A c.712C>A c.776C>A (p.Ala259Asp) | |
| 8 | g.38144262C>A | CA2686931576 | STAR | c.*11G>T (n.*11G>T) n.2838G>T c.711G>T c.775G>T (p.Ala259Ser) | gnomAD v4 |
| 8 | g.38144262C= | CA1777409208 | STAR | c.*11G= (n.*11G=) n.2838G= c.711G= c.775G= (p.Ala259=) | |
| 8 | g.38144262C>T | CA581109595 | STAR | c.*11G>A (n.*11G>A) n.2838G>A c.711G>A c.775G>A (p.Ala259Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.38144263A= | CA1777409211 | STAR | c.*10T= (n.*10T=) n.2837T= c.710T= c.774T= (p.Pro258=) | |
| 8 | g.38144263A>C | CA2739983443 | STAR | c.*10T>G (n.*10T>G) n.2837T>G c.710T>G c.774T>G (p.Pro258=) | |
| 8 | g.38144263A>G | CA2739983444 | STAR | c.*10T>C (n.*10T>C) n.2837T>C c.710T>C c.774T>C (p.Pro258=) | |
| 8 | g.38144263A>T | CA175091003 | STAR | c.*10T>A (n.*10T>A) n.2837T>A c.710T>A c.774T>A (p.Pro258=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.38144264G>A | CA2686931579 | STAR | c.*9C>T (n.*9C>T) n.2836C>T c.709C>T c.773C>T (p.Pro258Leu) | gnomAD v4 |
| 8 | g.38144264G>C | CA2739983445 | STAR | c.*9C>G (n.*9C>G) n.2836C>G c.709C>G c.773C>G (p.Pro258Arg) | |
| 8 | g.38144264G>T | CA2739983446 | STAR | c.*9C>A (n.*9C>A) n.2836C>A c.709C>A c.773C>A (p.Pro258His) | |
| 8 | g.38144265G>C | CA2739983447 | STAR | c.*8C>G (n.*8C>G) n.2835C>G c.708C>G c.772C>G (p.Pro258Ala) | |
| 8 | g.38144265G>T | CA2686931580 | STAR | c.*8C>A (n.*8C>A) n.2835C>A c.708C>A c.772C>A (p.Pro258Thr) | gnomAD v4 |
| 8 | g.38144266C>A | CA2686931583 | STAR | c.*7G>T (n.*7G>T) n.2834G>T c.707G>T c.771G>T (p.Gln257His) | gnomAD v4 |
| 8 | g.38144266C>G | CA2739983449 | STAR | c.*7G>C (n.*7G>C) n.2834G>C c.707G>C c.771G>C (p.Gln257His) | |
| 8 | g.38144266C>T | CA2739983448 | STAR | c.*7G>A (n.*7G>A) n.2834G>A c.707G>A c.771G>A (p.Gln257=) | |
| 8 | g.38144267T>A | CA2739983450 | STAR | c.*6A>T (n.*6A>T) n.2833A>T c.706A>T c.770A>T (p.Gln257Leu) | |
| 8 | g.38144267T>C | CA2739983451 | STAR | c.*6A>G (n.*6A>G) n.2833A>G c.706A>G c.770A>G (p.Gln257Arg) | |
| 8 | g.38144267T>G | CA2739983452 | STAR | c.*6A>C (n.*6A>C) n.2833A>C c.706A>C c.770A>C (p.Gln257Pro) | |
| 8 | g.38144268G>A | CA4715113 | STAR | c.*5C>T (n.*5C>T) n.2832C>T c.705C>T c.769C>T (p.Gln257Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.38144268G>C | CA851456099 | STAR | c.*5C>G (n.*5C>G) n.2832C>G c.705C>G c.769C>G (p.Gln257Glu) | dbSNP |
| 8 | g.38144268G= | CA1777409213 | STAR | c.*5C= (n.*5C=) n.2832C= c.705C= c.769C= (p.Gln257=) | |
| 8 | g.38144269G>A | CA2739983453 | STAR | c.*4C>T (n.*4C>T) n.2831C>T c.704C>T c.768C>T (p.Asp256=) | |
| 8 | g.38144269G>C | CA2739983454 | STAR | c.*4C>G (n.*4C>G) n.2831C>G c.704C>G c.768C>G (p.Asp256Glu) | |
| 8 | g.38144269G>T | CA2579143931 | STAR | c.*4C>A (n.*4C>A) n.2831C>A c.704C>A c.768C>A (p.Asp256Glu) | |
| 8 | g.38144270T>A | CA2739983455 | STAR | c.*3A>T (n.*3A>T) n.2830A>T c.703A>T c.767A>T (p.Asp256Val) | |
| 8 | g.38144270T>C | CA2739983456 | STAR | c.*3A>G (n.*3A>G) n.2830A>G c.703A>G c.767A>G (p.Asp256Gly) | |
| 8 | g.38144270T>G | CA1777409217 | STAR | c.*3A>C (n.*3A>C) n.2830A>C c.703A>C c.767A>C (p.Asp256Ala) | dbSNP |
| 8 | g.38144270T= | CA1777409215 | STAR | c.*3A= (n.*3A=) n.2830A= c.703A= c.767A= (p.Asp256=) | |
| 8 | g.38144271C>A | CA2686931587 | STAR | c.*2G>T (n.*2G>T) n.2829G>T c.702G>T c.766G>T (p.Asp256Tyr) | gnomAD v4 |
| 8 | g.38144271C>G | CA2739983457 | STAR | c.*2G>C (n.*2G>C) n.2829G>C c.702G>C c.766G>C (p.Asp256His) | |
| 8 | g.38144272T>A | CA2739983460 | STAR | c.*1A>T (n.*1A>T) n.2828A>T c.701A>T c.765A>T (p.Glu255Asp) | |
| 8 | g.38144272T>C | CA2739983458 | STAR | c.*1A>G (n.*1A>G) n.2828A>G c.701A>G c.765A>G (p.Glu255=) | |
| 8 | g.38144272T>G | CA2739983459 | STAR | c.*1A>C (n.*1A>C) n.2828A>C c.701A>C c.765A>C (p.Glu255Asp) | |
| 8 | g.38144273T>A | CA370695451 | STAR | c.858A>T (p.Ter286Cys) n.2827A>T c.700A>T c.764A>T (p.Glu255Val) | |
| 8 | g.38144273T>C | CA370695452 | STAR | c.858A>G (p.Ter286Trp) n.2827A>G c.700A>G c.764A>G (p.Glu255Gly) | |
| 8 | g.38144273T>G | CA370695453 | STAR | c.858A>C (p.Ter286Cys) n.2827A>C c.700A>C c.764A>C (p.Glu255Ala) | gnomAD v4 |
| 8 | g.38144273_38144274insGG | CA2686931591 | STAR | c.857_858insCC (p.Ter286CysextTer?) n.2826_2827insCC c.699_700insCC c.763_764insCC (p.Glu255AlafsTer?) | gnomAD v4 |
| 8 | g.38144274C>A | CA370695455 | STAR | c.857G>T (p.Ter286Leu) n.2826G>T c.699G>T c.763G>T (p.Glu255Ter) | gnomAD v4 |
| 8 | g.38144274C= | CA1777409219 | STAR | c.857G= (p.Ter286=) n.2826G= c.699G= c.763G= (p.Glu255=) | |
| 8 | g.38144274C>G | CA370695458 | STAR | c.857G>C (p.Ter286Ser) n.2826G>C c.699G>C c.763G>C (p.Glu255Gln) | dbSNP gnomAD v2 |
| 8 | g.38144274C>T | CA460374906 | STAR | c.857G>A (p.Ter286=) n.2826G>A c.699G>A c.763G>A (p.Glu255Lys) | |
| 8 | g.38144274dup | CA2686931590 | STAR | c.857dup (p.Ter286TrpextTer?) n.2826dup c.699dup c.763dup (p.Glu255GlyfsTer30) | gnomAD v4 |