Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.49256976G>A | CA2576501580 | DYM | c.1460+34C>T (n.1460+34C>T) c.890+34C>T (n.890+34C>T) c.124+34C>T c.1457+34C>T (n.1457+34C>T) c.1292+34C>T (n.1292+34C>T) c.1454+34C>T (n.1454+34C>T) c.1280+34C>T (n.1280+34C>T) n.1817+34C>T c.1334+34C>T (n.1334+34C>T) c.1277+34C>T (n.1277+34C>T) c.1232+34C>T (n.1232+34C>T) c.887+34C>T (n.887+34C>T) | |
18 | g.49256976G>T | CA2641729050 | DYM | c.1460+34C>A (n.1460+34C>A) c.890+34C>A (n.890+34C>A) c.124+34C>A c.1457+34C>A (n.1457+34C>A) c.1292+34C>A (n.1292+34C>A) c.1454+34C>A (n.1454+34C>A) c.1280+34C>A (n.1280+34C>A) n.1817+34C>A c.1334+34C>A (n.1334+34C>A) c.1277+34C>A (n.1277+34C>A) c.1232+34C>A (n.1232+34C>A) c.887+34C>A (n.887+34C>A) | gnomAD v4 |
18 | g.49256977C>A | CA2641729051 | DYM | c.1460+33G>T (n.1460+33G>T) c.890+33G>T (n.890+33G>T) c.124+33G>T c.1457+33G>T (n.1457+33G>T) c.1292+33G>T (n.1292+33G>T) c.1454+33G>T (n.1454+33G>T) c.1280+33G>T (n.1280+33G>T) n.1817+33G>T c.1334+33G>T (n.1334+33G>T) c.1277+33G>T (n.1277+33G>T) c.1232+33G>T (n.1232+33G>T) c.887+33G>T (n.887+33G>T) | gnomAD v4 |
18 | g.49256977C>T | CA2641729052 | DYM | c.1460+33G>A (n.1460+33G>A) c.890+33G>A (n.890+33G>A) c.124+33G>A c.1457+33G>A (n.1457+33G>A) c.1292+33G>A (n.1292+33G>A) c.1454+33G>A (n.1454+33G>A) c.1280+33G>A (n.1280+33G>A) n.1817+33G>A c.1334+33G>A (n.1334+33G>A) c.1277+33G>A (n.1277+33G>A) c.1232+33G>A (n.1232+33G>A) c.887+33G>A (n.887+33G>A) | gnomAD v4 |
18 | g.49256979_49256980dup | CA2536646464 | DYM | c.1460+31_1460+32dup (n.1460+31_1460+32dup) c.890+31_890+32dup (n.890+31_890+32dup) c.124+31_124+32dup c.1457+31_1457+32dup (n.1457+31_1457+32dup) c.1292+31_1292+32dup (n.1292+31_1292+32dup) c.1454+31_1454+32dup (n.1454+31_1454+32dup) c.1280+31_1280+32dup (n.1280+31_1280+32dup) n.1817+31_1817+32dup c.1334+31_1334+32dup (n.1334+31_1334+32dup) c.1277+31_1277+32dup (n.1277+31_1277+32dup) c.1232+31_1232+32dup (n.1232+31_1232+32dup) c.887+31_887+32dup (n.887+31_887+32dup) | |
18 | g.49256979A>G | CA2641729053 | DYM | c.1460+31T>C (n.1460+31T>C) c.890+31T>C (n.890+31T>C) c.124+31T>C c.1457+31T>C (n.1457+31T>C) c.1292+31T>C (n.1292+31T>C) c.1454+31T>C (n.1454+31T>C) c.1280+31T>C (n.1280+31T>C) n.1817+31T>C c.1334+31T>C (n.1334+31T>C) c.1277+31T>C (n.1277+31T>C) c.1232+31T>C (n.1232+31T>C) c.887+31T>C (n.887+31T>C) | gnomAD v4 |
18 | g.49256980A= | CA2302132410 | DYM | c.1460+30T= (n.1460+30T=) c.890+30T= (n.890+30T=) c.124+30T= c.1457+30T= (n.1457+30T=) c.1292+30T= (n.1292+30T=) c.1454+30T= (n.1454+30T=) c.1280+30T= (n.1280+30T=) n.1817+30T= c.1334+30T= (n.1334+30T=) c.1277+30T= (n.1277+30T=) c.1232+30T= (n.1232+30T=) c.887+30T= (n.887+30T=) | |
18 | g.49256980A>G | CA629848417 | DYM | c.1460+30T>C (n.1460+30T>C) c.890+30T>C (n.890+30T>C) c.124+30T>C c.1457+30T>C (n.1457+30T>C) c.1292+30T>C (n.1292+30T>C) c.1454+30T>C (n.1454+30T>C) c.1280+30T>C (n.1280+30T>C) n.1817+30T>C c.1334+30T>C (n.1334+30T>C) c.1277+30T>C (n.1277+30T>C) c.1232+30T>C (n.1232+30T>C) c.887+30T>C (n.887+30T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49256980A>T | CA2641729054 | DYM | c.1460+30T>A (n.1460+30T>A) c.890+30T>A (n.890+30T>A) c.124+30T>A c.1457+30T>A (n.1457+30T>A) c.1292+30T>A (n.1292+30T>A) c.1454+30T>A (n.1454+30T>A) c.1280+30T>A (n.1280+30T>A) n.1817+30T>A c.1334+30T>A (n.1334+30T>A) c.1277+30T>A (n.1277+30T>A) c.1232+30T>A (n.1232+30T>A) c.887+30T>A (n.887+30T>A) | gnomAD v4 |
18 | g.49256980_49256988delinsATCAGTATT | CA2302132409 | DYM | c.1460+22_1460+30delinsAATACTGAT (n.1460+22_1460+30delinsAATACTGAT) c.890+22_890+30delinsAATACTGAT (n.890+22_890+30delinsAATACTGAT) c.124+22_124+30delinsAATACTGAT c.1457+22_1457+30delinsAATACTGAT (n.1457+22_1457+30delinsAATACTGAT) c.1292+22_1292+30delinsAATACTGAT (n.1292+22_1292+30delinsAATACTGAT) c.1454+22_1454+30delinsAATACTGAT (n.1454+22_1454+30delinsAATACTGAT) c.1280+22_1280+30delinsAATACTGAT (n.1280+22_1280+30delinsAATACTGAT) n.1817+22_1817+30delinsAATACTGAT c.1334+22_1334+30delinsAATACTGAT (n.1334+22_1334+30delinsAATACTGAT) c.1277+22_1277+30delinsAATACTGAT (n.1277+22_1277+30delinsAATACTGAT) c.1232+22_1232+30delinsAATACTGAT (n.1232+22_1232+30delinsAATACTGAT) c.887+22_887+30delinsAATACTGAT (n.887+22_887+30delinsAATACTGAT) | |
18 | g.49256983_49256990del | CA8958081 | DYM | c.1460+22_1460+29del (n.1460+22_1460+29del) c.890+22_890+29del (n.890+22_890+29del) c.124+22_124+29del c.1457+22_1457+29del (n.1457+22_1457+29del) c.1292+22_1292+29del (n.1292+22_1292+29del) c.1454+22_1454+29del (n.1454+22_1454+29del) c.1280+22_1280+29del (n.1280+22_1280+29del) n.1817+22_1817+29del c.1334+22_1334+29del (n.1334+22_1334+29del) c.1277+22_1277+29del (n.1277+22_1277+29del) c.1232+22_1232+29del (n.1232+22_1232+29del) c.887+22_887+29del (n.887+22_887+29del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49256982C>T | CA2572305818 | DYM | c.1460+28G>A (n.1460+28G>A) c.890+28G>A (n.890+28G>A) c.124+28G>A c.1457+28G>A (n.1457+28G>A) c.1292+28G>A (n.1292+28G>A) c.1454+28G>A (n.1454+28G>A) c.1280+28G>A (n.1280+28G>A) n.1817+28G>A c.1334+28G>A (n.1334+28G>A) c.1277+28G>A (n.1277+28G>A) c.1232+28G>A (n.1232+28G>A) c.887+28G>A (n.887+28G>A) | |
18 | g.49256984G>A | CA8958082 | DYM | c.1460+26C>T (n.1460+26C>T) c.890+26C>T (n.890+26C>T) c.124+26C>T c.1457+26C>T (n.1457+26C>T) c.1292+26C>T (n.1292+26C>T) c.1454+26C>T (n.1454+26C>T) c.1280+26C>T (n.1280+26C>T) n.1817+26C>T c.1334+26C>T (n.1334+26C>T) c.1277+26C>T (n.1277+26C>T) c.1232+26C>T (n.1232+26C>T) c.887+26C>T (n.887+26C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49256984G= | CA2302132411 | DYM | c.1460+26C= (n.1460+26C=) c.890+26C= (n.890+26C=) c.124+26C= c.1457+26C= (n.1457+26C=) c.1292+26C= (n.1292+26C=) c.1454+26C= (n.1454+26C=) c.1280+26C= (n.1280+26C=) n.1817+26C= c.1334+26C= (n.1334+26C=) c.1277+26C= (n.1277+26C=) c.1232+26C= (n.1232+26C=) c.887+26C= (n.887+26C=) | |
18 | g.49256985T>C | CA629848418 | DYM | c.1460+25A>G (n.1460+25A>G) c.890+25A>G (n.890+25A>G) c.124+25A>G c.1457+25A>G (n.1457+25A>G) c.1292+25A>G (n.1292+25A>G) c.1454+25A>G (n.1454+25A>G) c.1280+25A>G (n.1280+25A>G) n.1817+25A>G c.1334+25A>G (n.1334+25A>G) c.1277+25A>G (n.1277+25A>G) c.1232+25A>G (n.1232+25A>G) c.887+25A>G (n.887+25A>G) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.49256985T= | CA2302132412 | DYM | c.1460+25A= (n.1460+25A=) c.890+25A= (n.890+25A=) c.124+25A= c.1457+25A= (n.1457+25A=) c.1292+25A= (n.1292+25A=) c.1454+25A= (n.1454+25A=) c.1280+25A= (n.1280+25A=) n.1817+25A= c.1334+25A= (n.1334+25A=) c.1277+25A= (n.1277+25A=) c.1232+25A= (n.1232+25A=) c.887+25A= (n.887+25A=) | |
18 | g.49256986A>G | CA2576501581 | DYM | c.1460+24T>C (n.1460+24T>C) c.890+24T>C (n.890+24T>C) c.124+24T>C c.1457+24T>C (n.1457+24T>C) c.1292+24T>C (n.1292+24T>C) c.1454+24T>C (n.1454+24T>C) c.1280+24T>C (n.1280+24T>C) n.1817+24T>C c.1334+24T>C (n.1334+24T>C) c.1277+24T>C (n.1277+24T>C) c.1232+24T>C (n.1232+24T>C) c.887+24T>C (n.887+24T>C) | gnomAD v4 |
18 | g.49256987T>A | CA8958083 | DYM | c.1460+23A>T (n.1460+23A>T) c.890+23A>T (n.890+23A>T) c.124+23A>T c.1457+23A>T (n.1457+23A>T) c.1292+23A>T (n.1292+23A>T) c.1454+23A>T (n.1454+23A>T) c.1280+23A>T (n.1280+23A>T) n.1817+23A>T c.1334+23A>T (n.1334+23A>T) c.1277+23A>T (n.1277+23A>T) c.1232+23A>T (n.1232+23A>T) c.887+23A>T (n.887+23A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.49256987T>C | CA780058435 | DYM | c.1460+23A>G (n.1460+23A>G) c.890+23A>G (n.890+23A>G) c.124+23A>G c.1457+23A>G (n.1457+23A>G) c.1292+23A>G (n.1292+23A>G) c.1454+23A>G (n.1454+23A>G) c.1280+23A>G (n.1280+23A>G) n.1817+23A>G c.1334+23A>G (n.1334+23A>G) c.1277+23A>G (n.1277+23A>G) c.1232+23A>G (n.1232+23A>G) c.887+23A>G (n.887+23A>G) | dbSNP |
18 | g.49256987T= | CA2302132413 | DYM | c.1460+23A= (n.1460+23A=) c.890+23A= (n.890+23A=) c.124+23A= c.1457+23A= (n.1457+23A=) c.1292+23A= (n.1292+23A=) c.1454+23A= (n.1454+23A=) c.1280+23A= (n.1280+23A=) n.1817+23A= c.1334+23A= (n.1334+23A=) c.1277+23A= (n.1277+23A=) c.1232+23A= (n.1232+23A=) c.887+23A= (n.887+23A=) | |
18 | g.49256988T>C | CA8958084 | DYM | c.1460+22A>G (n.1460+22A>G) c.890+22A>G (n.890+22A>G) c.124+22A>G c.1457+22A>G (n.1457+22A>G) c.1292+22A>G (n.1292+22A>G) c.1454+22A>G (n.1454+22A>G) c.1280+22A>G (n.1280+22A>G) n.1817+22A>G c.1334+22A>G (n.1334+22A>G) c.1277+22A>G (n.1277+22A>G) c.1232+22A>G (n.1232+22A>G) c.887+22A>G (n.887+22A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49256988T= | CA2302132414 | DYM | c.1460+22A= (n.1460+22A=) c.890+22A= (n.890+22A=) c.124+22A= c.1457+22A= (n.1457+22A=) c.1292+22A= (n.1292+22A=) c.1454+22A= (n.1454+22A=) c.1280+22A= (n.1280+22A=) n.1817+22A= c.1334+22A= (n.1334+22A=) c.1277+22A= (n.1277+22A=) c.1232+22A= (n.1232+22A=) c.887+22A= (n.887+22A=) | |
18 | g.49256989T>C | CA629848419 | DYM | c.1460+21A>G (n.1460+21A>G) c.890+21A>G (n.890+21A>G) c.124+21A>G c.1457+21A>G (n.1457+21A>G) c.1292+21A>G (n.1292+21A>G) c.1454+21A>G (n.1454+21A>G) c.1280+21A>G (n.1280+21A>G) n.1817+21A>G c.1334+21A>G (n.1334+21A>G) c.1277+21A>G (n.1277+21A>G) c.1232+21A>G (n.1232+21A>G) c.887+21A>G (n.887+21A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49256989T= | CA2302132415 | DYM | c.1460+21A= (n.1460+21A=) c.890+21A= (n.890+21A=) c.124+21A= c.1457+21A= (n.1457+21A=) c.1292+21A= (n.1292+21A=) c.1454+21A= (n.1454+21A=) c.1280+21A= (n.1280+21A=) n.1817+21A= c.1334+21A= (n.1334+21A=) c.1277+21A= (n.1277+21A=) c.1232+21A= (n.1232+21A=) c.887+21A= (n.887+21A=) | |
18 | g.49256990C= | CA2302132416 | DYM | c.1460+20G= (n.1460+20G=) c.890+20G= (n.890+20G=) c.124+20G= c.1457+20G= (n.1457+20G=) c.1292+20G= (n.1292+20G=) c.1454+20G= (n.1454+20G=) c.1280+20G= (n.1280+20G=) n.1817+20G= c.1334+20G= (n.1334+20G=) c.1277+20G= (n.1277+20G=) c.1232+20G= (n.1232+20G=) c.887+20G= (n.887+20G=) | |
18 | g.49256990C>G | CA629848420 | DYM | c.1460+20G>C (n.1460+20G>C) c.890+20G>C (n.890+20G>C) c.124+20G>C c.1457+20G>C (n.1457+20G>C) c.1292+20G>C (n.1292+20G>C) c.1454+20G>C (n.1454+20G>C) c.1280+20G>C (n.1280+20G>C) n.1817+20G>C c.1334+20G>C (n.1334+20G>C) c.1277+20G>C (n.1277+20G>C) c.1232+20G>C (n.1232+20G>C) c.887+20G>C (n.887+20G>C) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.49256992_49257020del | CA2641729056 | DYM | c.1452_1460+20del c.882_890+20del c.116_124+20del c.1449_1457+20del c.1284_1292+20del c.1446_1454+20del c.1272_1280+20del n.1809_1817+20del c.1326_1334+20del c.1269_1277+20del c.1224_1232+20del c.879_887+20del | gnomAD v4 |
18 | g.49256991T>C | CA2641729058 | DYM | c.1460+19A>G (n.1460+19A>G) c.890+19A>G (n.890+19A>G) c.124+19A>G c.1457+19A>G (n.1457+19A>G) c.1292+19A>G (n.1292+19A>G) c.1454+19A>G (n.1454+19A>G) c.1280+19A>G (n.1280+19A>G) n.1817+19A>G c.1334+19A>G (n.1334+19A>G) c.1277+19A>G (n.1277+19A>G) c.1232+19A>G (n.1232+19A>G) c.887+19A>G (n.887+19A>G) | gnomAD v4 |
18 | g.49256995A= | CA2302132417 | DYM | c.1460+15T= (n.1460+15T=) c.890+15T= (n.890+15T=) c.124+15T= c.1457+15T= (n.1457+15T=) c.1292+15T= (n.1292+15T=) c.1454+15T= (n.1454+15T=) c.1280+15T= (n.1280+15T=) n.1817+15T= c.1334+15T= (n.1334+15T=) c.1277+15T= (n.1277+15T=) c.1232+15T= (n.1232+15T=) c.887+15T= (n.887+15T=) | |
18 | g.49256995A>G | CA8958085 | DYM | c.1460+15T>C (n.1460+15T>C) c.890+15T>C (n.890+15T>C) c.124+15T>C c.1457+15T>C (n.1457+15T>C) c.1292+15T>C (n.1292+15T>C) c.1454+15T>C (n.1454+15T>C) c.1280+15T>C (n.1280+15T>C) n.1817+15T>C c.1334+15T>C (n.1334+15T>C) c.1277+15T>C (n.1277+15T>C) c.1232+15T>C (n.1232+15T>C) c.887+15T>C (n.887+15T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49256999T>C | CA2302132418 | DYM | c.1460+11A>G (n.1460+11A>G) c.890+11A>G (n.890+11A>G) c.124+11A>G c.1457+11A>G (n.1457+11A>G) c.1292+11A>G (n.1292+11A>G) c.1454+11A>G (n.1454+11A>G) c.1280+11A>G (n.1280+11A>G) n.1817+11A>G c.1334+11A>G (n.1334+11A>G) c.1277+11A>G (n.1277+11A>G) c.1232+11A>G (n.1232+11A>G) c.887+11A>G (n.887+11A>G) | dbSNP |
18 | g.49256999T= | CA2302132419 | DYM | c.1460+11A= (n.1460+11A=) c.890+11A= (n.890+11A=) c.124+11A= c.1457+11A= (n.1457+11A=) c.1292+11A= (n.1292+11A=) c.1454+11A= (n.1454+11A=) c.1280+11A= (n.1280+11A=) n.1817+11A= c.1334+11A= (n.1334+11A=) c.1277+11A= (n.1277+11A=) c.1232+11A= (n.1232+11A=) c.887+11A= (n.887+11A=) | |
18 | g.49257001C>A | CA2641729061 | DYM | c.1460+9G>T (n.1460+9G>T) c.890+9G>T (n.890+9G>T) c.124+9G>T c.1457+9G>T (n.1457+9G>T) c.1292+9G>T (n.1292+9G>T) c.1454+9G>T (n.1454+9G>T) c.1280+9G>T (n.1280+9G>T) n.1817+9G>T c.1334+9G>T (n.1334+9G>T) c.1277+9G>T (n.1277+9G>T) c.1232+9G>T (n.1232+9G>T) c.887+9G>T (n.887+9G>T) | gnomAD v4 |
18 | g.49257002A= | CA2302132420 | DYM | c.1460+8T= (n.1460+8T=) c.890+8T= (n.890+8T=) c.124+8T= c.1457+8T= (n.1457+8T=) c.1292+8T= (n.1292+8T=) c.1454+8T= (n.1454+8T=) c.1280+8T= (n.1280+8T=) n.1817+8T= c.1334+8T= (n.1334+8T=) c.1277+8T= (n.1277+8T=) c.1232+8T= (n.1232+8T=) c.887+8T= (n.887+8T=) | |
18 | g.49257002A>G | CA629848421 | DYM | c.1460+8T>C (n.1460+8T>C) c.890+8T>C (n.890+8T>C) c.124+8T>C c.1457+8T>C (n.1457+8T>C) c.1292+8T>C (n.1292+8T>C) c.1454+8T>C (n.1454+8T>C) c.1280+8T>C (n.1280+8T>C) n.1817+8T>C c.1334+8T>C (n.1334+8T>C) c.1277+8T>C (n.1277+8T>C) c.1232+8T>C (n.1232+8T>C) c.887+8T>C (n.887+8T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.49257002A>T | CA2302132421 | DYM | c.1460+8T>A (n.1460+8T>A) c.890+8T>A (n.890+8T>A) c.124+8T>A c.1457+8T>A (n.1457+8T>A) c.1292+8T>A (n.1292+8T>A) c.1454+8T>A (n.1454+8T>A) c.1280+8T>A (n.1280+8T>A) n.1817+8T>A c.1334+8T>A (n.1334+8T>A) c.1277+8T>A (n.1277+8T>A) c.1232+8T>A (n.1232+8T>A) c.887+8T>A (n.887+8T>A) | dbSNP gnomAD v4 |
18 | g.49257003T>C | CA2641729062 | DYM | c.1460+7A>G (n.1460+7A>G) c.890+7A>G (n.890+7A>G) c.124+7A>G c.1457+7A>G (n.1457+7A>G) c.1292+7A>G (n.1292+7A>G) c.1454+7A>G (n.1454+7A>G) c.1280+7A>G (n.1280+7A>G) n.1817+7A>G c.1334+7A>G (n.1334+7A>G) c.1277+7A>G (n.1277+7A>G) c.1232+7A>G (n.1232+7A>G) c.887+7A>G (n.887+7A>G) | gnomAD v4 |
18 | g.49257004A= | CA2302132422 | DYM | c.1460+6T= (n.1460+6T=) c.890+6T= (n.890+6T=) c.124+6T= c.1457+6T= (n.1457+6T=) c.1292+6T= (n.1292+6T=) c.1454+6T= (n.1454+6T=) c.1280+6T= (n.1280+6T=) n.1817+6T= c.1334+6T= (n.1334+6T=) c.1277+6T= (n.1277+6T=) c.1232+6T= (n.1232+6T=) c.887+6T= (n.887+6T=) | |
18 | g.49257004A>G | CA2641729063 | DYM | c.1460+6T>C (n.1460+6T>C) c.890+6T>C (n.890+6T>C) c.124+6T>C c.1457+6T>C (n.1457+6T>C) c.1292+6T>C (n.1292+6T>C) c.1454+6T>C (n.1454+6T>C) c.1280+6T>C (n.1280+6T>C) n.1817+6T>C c.1334+6T>C (n.1334+6T>C) c.1277+6T>C (n.1277+6T>C) c.1232+6T>C (n.1232+6T>C) c.887+6T>C (n.887+6T>C) | gnomAD v4 |
18 | g.49257004A>T | CA2302132423 | DYM | c.1460+6T>A (n.1460+6T>A) c.890+6T>A (n.890+6T>A) c.124+6T>A c.1457+6T>A (n.1457+6T>A) c.1292+6T>A (n.1292+6T>A) c.1454+6T>A (n.1454+6T>A) c.1280+6T>A (n.1280+6T>A) n.1817+6T>A c.1334+6T>A (n.1334+6T>A) c.1277+6T>A (n.1277+6T>A) c.1232+6T>A (n.1232+6T>A) c.887+6T>A (n.887+6T>A) | dbSNP gnomAD v4 |
18 | g.49257007T>C | CA8958086 | DYM | c.1460+3A>G (n.1460+3A>G) c.890+3A>G (n.890+3A>G) c.124+3A>G c.1457+3A>G (n.1457+3A>G) c.1292+3A>G (n.1292+3A>G) c.1454+3A>G (n.1454+3A>G) c.1280+3A>G (n.1280+3A>G) n.1817+3A>G c.1334+3A>G (n.1334+3A>G) c.1277+3A>G (n.1277+3A>G) c.1232+3A>G (n.1232+3A>G) c.887+3A>G (n.887+3A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.49257007T= | CA2302132424 | DYM | c.1460+3A= (n.1460+3A=) c.890+3A= (n.890+3A=) c.124+3A= c.1457+3A= (n.1457+3A=) c.1292+3A= (n.1292+3A=) c.1454+3A= (n.1454+3A=) c.1280+3A= (n.1280+3A=) n.1817+3A= c.1334+3A= (n.1334+3A=) c.1277+3A= (n.1277+3A=) c.1232+3A= (n.1232+3A=) c.887+3A= (n.887+3A=) | |
18 | g.49257008A>C | CA402506474 | DYM | c.1460+2T>G (n.1460+2T>G) c.890+2T>G (n.890+2T>G) c.124+2T>G c.1457+2T>G (n.1457+2T>G) c.1292+2T>G (n.1292+2T>G) c.1454+2T>G (n.1454+2T>G) c.1280+2T>G (n.1280+2T>G) n.1817+2T>G c.1334+2T>G (n.1334+2T>G) c.1277+2T>G (n.1277+2T>G) c.1232+2T>G (n.1232+2T>G) c.887+2T>G (n.887+2T>G) | |
18 | g.49257008A>G | CA402506475 | DYM | c.1460+2T>C (n.1460+2T>C) c.890+2T>C (n.890+2T>C) c.124+2T>C c.1457+2T>C (n.1457+2T>C) c.1292+2T>C (n.1292+2T>C) c.1454+2T>C (n.1454+2T>C) c.1280+2T>C (n.1280+2T>C) n.1817+2T>C c.1334+2T>C (n.1334+2T>C) c.1277+2T>C (n.1277+2T>C) c.1232+2T>C (n.1232+2T>C) c.887+2T>C (n.887+2T>C) | |
18 | g.49257008A>T | CA402506476 | DYM | c.1460+2T>A (n.1460+2T>A) c.890+2T>A (n.890+2T>A) c.124+2T>A c.1457+2T>A (n.1457+2T>A) c.1292+2T>A (n.1292+2T>A) c.1454+2T>A (n.1454+2T>A) c.1280+2T>A (n.1280+2T>A) n.1817+2T>A c.1334+2T>A (n.1334+2T>A) c.1277+2T>A (n.1277+2T>A) c.1232+2T>A (n.1232+2T>A) c.887+2T>A (n.887+2T>A) | |
18 | g.49257009C>A | CA402506477 | DYM | c.1460+1G>T (n.1460+1G>T) c.890+1G>T (n.890+1G>T) c.124+1G>T c.1457+1G>T (n.1457+1G>T) c.1292+1G>T (n.1292+1G>T) c.1454+1G>T (n.1454+1G>T) c.1280+1G>T (n.1280+1G>T) n.1817+1G>T c.1334+1G>T (n.1334+1G>T) c.1277+1G>T (n.1277+1G>T) c.1232+1G>T (n.1232+1G>T) c.887+1G>T (n.887+1G>T) | |
18 | g.49257009C>G | CA402506478 | DYM | c.1460+1G>C (n.1460+1G>C) c.890+1G>C (n.890+1G>C) c.124+1G>C c.1457+1G>C (n.1457+1G>C) c.1292+1G>C (n.1292+1G>C) c.1454+1G>C (n.1454+1G>C) c.1280+1G>C (n.1280+1G>C) n.1817+1G>C c.1334+1G>C (n.1334+1G>C) c.1277+1G>C (n.1277+1G>C) c.1232+1G>C (n.1232+1G>C) c.887+1G>C (n.887+1G>C) | gnomAD v4 |
18 | g.49257009C>T | CA402506479 | DYM | c.1460+1G>A (n.1460+1G>A) c.890+1G>A (n.890+1G>A) c.124+1G>A c.1457+1G>A (n.1457+1G>A) c.1292+1G>A (n.1292+1G>A) c.1454+1G>A (n.1454+1G>A) c.1280+1G>A (n.1280+1G>A) n.1817+1G>A c.1334+1G>A (n.1334+1G>A) c.1277+1G>A (n.1277+1G>A) c.1232+1G>A (n.1232+1G>A) c.887+1G>A (n.887+1G>A) | |
18 | g.49257010C>A | CA402506480 | DYM | c.1460G>T (p.Ser487Ile) c.890G>T (p.Ser297Ile) c.124G>T c.1460G>T (p.Arg487Met) c.1457G>T (p.Ser486Ile) c.1292G>T (p.Ser431Ile) c.1454G>T (p.Ser485Ile) c.1280G>T (p.Ser427Ile) n.1817G>T c.1334G>T (p.Ser445Ile) c.1277G>T (p.Ser426Ile) c.1232G>T (p.Ser411Ile) c.887G>T (p.Ser296Ile) | |
18 | g.49257010C= | CA2302132425 | DYM | c.1460G= (p.Ser487=) c.890G= (p.Ser297=) c.124G= c.1460G= (p.Arg487=) c.1457G= (p.Ser486=) c.1292G= (p.Ser431=) c.1454G= (p.Ser485=) c.1280G= (p.Ser427=) n.1817G= c.1334G= (p.Ser445=) c.1277G= (p.Ser426=) c.1232G= (p.Ser411=) c.887G= (p.Ser296=) | |
18 | g.49257010C>G | CA402506481 | DYM | c.1460G>C (p.Ser487Thr) c.890G>C (p.Ser297Thr) c.124G>C c.1460G>C (p.Arg487Thr) c.1457G>C (p.Ser486Thr) c.1292G>C (p.Ser431Thr) c.1454G>C (p.Ser485Thr) c.1280G>C (p.Ser427Thr) n.1817G>C c.1334G>C (p.Ser445Thr) c.1277G>C (p.Ser426Thr) c.1232G>C (p.Ser411Thr) c.887G>C (p.Ser296Thr) | gnomAD v4 |
18 | g.49257010C>T | CA402506482 | DYM | c.1460G>A (p.Ser487Asn) c.890G>A (p.Ser297Asn) c.124G>A c.1460G>A (p.Arg487Lys) c.1457G>A (p.Ser486Asn) c.1292G>A (p.Ser431Asn) c.1454G>A (p.Ser485Asn) c.1280G>A (p.Ser427Asn) n.1817G>A c.1334G>A (p.Ser445Asn) c.1277G>A (p.Ser426Asn) c.1232G>A (p.Ser411Asn) c.887G>A (p.Ser296Asn) | ClinVar dbSNP |
18 | g.49257011T>A | CA402506485 | DYM | c.1459A>T (p.Ser487Cys) c.889A>T (p.Ser297Cys) c.123A>T c.1459A>T (p.Arg487Trp) c.1456A>T (p.Ser486Cys) c.1291A>T (p.Ser431Cys) c.1453A>T (p.Ser485Cys) c.1279A>T (p.Ser427Cys) n.1816A>T c.1333A>T (p.Ser445Cys) c.1276A>T (p.Ser426Cys) c.1231A>T (p.Ser411Cys) c.886A>T (p.Ser296Cys) | |
18 | g.49257011T>C | CA402506483 | DYM | c.1459A>G (p.Ser487Gly) c.889A>G (p.Ser297Gly) c.123A>G c.1459A>G (p.Arg487Gly) c.1456A>G (p.Ser486Gly) c.1291A>G (p.Ser431Gly) c.1453A>G (p.Ser485Gly) c.1279A>G (p.Ser427Gly) n.1816A>G c.1333A>G (p.Ser445Gly) c.1276A>G (p.Ser426Gly) c.1231A>G (p.Ser411Gly) c.886A>G (p.Ser296Gly) | |
18 | g.49257011T>G | CA402506484 | DYM | c.1459A>C (p.Ser487Arg) c.889A>C (p.Ser297Arg) c.123A>C c.1459A>C (p.Arg487=) c.1456A>C (p.Ser486Arg) c.1291A>C (p.Ser431Arg) c.1453A>C (p.Ser485Arg) c.1279A>C (p.Ser427Arg) n.1816A>C c.1333A>C (p.Ser445Arg) c.1276A>C (p.Ser426Arg) c.1231A>C (p.Ser411Arg) c.886A>C (p.Ser296Arg) | |
18 | g.49257012G>A | CA503938835 | DYM | c.1458C>T (p.Ile486=) c.888C>T (p.Ile296=) c.122C>T c.1455C>T (p.Ile485=) c.1290C>T (p.Ile430=) c.1452C>T (p.Ile484=) c.1278C>T (p.Ile426=) n.1815C>T c.1332C>T (p.Ile444=) c.1275C>T (p.Ile425=) c.1230C>T (p.Ile410=) c.885C>T (p.Ile295=) | |
18 | g.49257012G>C | CA402506486 | DYM | c.1458C>G (p.Ile486Met) c.888C>G (p.Ile296Met) c.122C>G c.1455C>G (p.Ile485Met) c.1290C>G (p.Ile430Met) c.1452C>G (p.Ile484Met) c.1278C>G (p.Ile426Met) n.1815C>G c.1332C>G (p.Ile444Met) c.1275C>G (p.Ile425Met) c.1230C>G (p.Ile410Met) c.885C>G (p.Ile295Met) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.49257012G= | CA2302132426 | DYM | c.1458C= (p.Ile486=) c.888C= (p.Ile296=) c.122C= c.1455C= (p.Ile485=) c.1290C= (p.Ile430=) c.1452C= (p.Ile484=) c.1278C= (p.Ile426=) n.1815C= c.1332C= (p.Ile444=) c.1275C= (p.Ile425=) c.1230C= (p.Ile410=) c.885C= (p.Ile295=) | |
18 | g.49257012G>T | CA503938836 | DYM | c.1458C>A (p.Ile486=) c.888C>A (p.Ile296=) c.122C>A c.1455C>A (p.Ile485=) c.1290C>A (p.Ile430=) c.1452C>A (p.Ile484=) c.1278C>A (p.Ile426=) n.1815C>A c.1332C>A (p.Ile444=) c.1275C>A (p.Ile425=) c.1230C>A (p.Ile410=) c.885C>A (p.Ile295=) | |
18 | g.49257013A>C | CA402506487 | DYM | c.1457T>G (p.Ile486Ser) c.887T>G (p.Ile296Ser) c.121T>G c.1454T>G (p.Ile485Ser) c.1289T>G (p.Ile430Ser) c.1451T>G (p.Ile484Ser) c.1277T>G (p.Ile426Ser) n.1814T>G c.1331T>G (p.Ile444Ser) c.1274T>G (p.Ile425Ser) c.1229T>G (p.Ile410Ser) c.884T>G (p.Ile295Ser) | |
18 | g.49257013A>G | CA402506488 | DYM | c.1457T>C (p.Ile486Thr) c.887T>C (p.Ile296Thr) c.121T>C c.1454T>C (p.Ile485Thr) c.1289T>C (p.Ile430Thr) c.1451T>C (p.Ile484Thr) c.1277T>C (p.Ile426Thr) n.1814T>C c.1331T>C (p.Ile444Thr) c.1274T>C (p.Ile425Thr) c.1229T>C (p.Ile410Thr) c.884T>C (p.Ile295Thr) | |
18 | g.49257013A>T | CA402506489 | DYM | c.1457T>A (p.Ile486Asn) c.887T>A (p.Ile296Asn) c.121T>A c.1454T>A (p.Ile485Asn) c.1289T>A (p.Ile430Asn) c.1451T>A (p.Ile484Asn) c.1277T>A (p.Ile426Asn) n.1814T>A c.1331T>A (p.Ile444Asn) c.1274T>A (p.Ile425Asn) c.1229T>A (p.Ile410Asn) c.884T>A (p.Ile295Asn) | |
18 | g.49257014T>A | CA402506490 | DYM | c.1456A>T (p.Ile486Phe) c.886A>T (p.Ile296Phe) c.120A>T c.1453A>T (p.Ile485Phe) c.1288A>T (p.Ile430Phe) c.1450A>T (p.Ile484Phe) c.1276A>T (p.Ile426Phe) n.1813A>T c.1330A>T (p.Ile444Phe) c.1273A>T (p.Ile425Phe) c.1228A>T (p.Ile410Phe) c.883A>T (p.Ile295Phe) | |
18 | g.49257014T>C | CA300376750 | DYM | c.1456A>G (p.Ile486Val) c.886A>G (p.Ile296Val) c.120A>G c.1453A>G (p.Ile485Val) c.1288A>G (p.Ile430Val) c.1450A>G (p.Ile484Val) c.1276A>G (p.Ile426Val) n.1813A>G c.1330A>G (p.Ile444Val) c.1273A>G (p.Ile425Val) c.1228A>G (p.Ile410Val) c.883A>G (p.Ile295Val) | dbSNP gnomAD v4 |
18 | g.49257014T>G | CA402506491 | DYM | c.1456A>C (p.Ile486Leu) c.886A>C (p.Ile296Leu) c.120A>C c.1453A>C (p.Ile485Leu) c.1288A>C (p.Ile430Leu) c.1450A>C (p.Ile484Leu) c.1276A>C (p.Ile426Leu) n.1813A>C c.1330A>C (p.Ile444Leu) c.1273A>C (p.Ile425Leu) c.1228A>C (p.Ile410Leu) c.883A>C (p.Ile295Leu) | |
18 | g.49257014T= | CA2302132427 | DYM | c.1456A= (p.Ile486=) c.886A= (p.Ile296=) c.120A= c.1453A= (p.Ile485=) c.1288A= (p.Ile430=) c.1450A= (p.Ile484=) c.1276A= (p.Ile426=) n.1813A= c.1330A= (p.Ile444=) c.1273A= (p.Ile425=) c.1228A= (p.Ile410=) c.883A= (p.Ile295=) | |
18 | g.49257015G>A | CA503938837 | DYM | c.1455C>T (p.Ile485=) c.885C>T (p.Ile295=) c.119C>T c.1452C>T (p.Ile484=) c.1287C>T (p.Ile429=) c.1449C>T (p.Ile483=) c.1275C>T (p.Ile425=) n.1812C>T c.1329C>T (p.Ile443=) c.1272C>T (p.Ile424=) c.1227C>T (p.Ile409=) c.882C>T (p.Ile294=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49257015G>C | CA402506492 | DYM | c.1455C>G (p.Ile485Met) c.885C>G (p.Ile295Met) c.119C>G c.1452C>G (p.Ile484Met) c.1287C>G (p.Ile429Met) c.1449C>G (p.Ile483Met) c.1275C>G (p.Ile425Met) n.1812C>G c.1329C>G (p.Ile443Met) c.1272C>G (p.Ile424Met) c.1227C>G (p.Ile409Met) c.882C>G (p.Ile294Met) | |
18 | g.49257015G= | CA2302132428 | DYM | c.1455C= (p.Ile485=) c.885C= (p.Ile295=) c.119C= c.1452C= (p.Ile484=) c.1287C= (p.Ile429=) c.1449C= (p.Ile483=) c.1275C= (p.Ile425=) n.1812C= c.1329C= (p.Ile443=) c.1272C= (p.Ile424=) c.1227C= (p.Ile409=) c.882C= (p.Ile294=) | |
18 | g.49257015G>T | CA503938838 | DYM | c.1455C>A (p.Ile485=) c.885C>A (p.Ile295=) c.119C>A c.1452C>A (p.Ile484=) c.1287C>A (p.Ile429=) c.1449C>A (p.Ile483=) c.1275C>A (p.Ile425=) n.1812C>A c.1329C>A (p.Ile443=) c.1272C>A (p.Ile424=) c.1227C>A (p.Ile409=) c.882C>A (p.Ile294=) | |
18 | g.49257016A>C | CA402506493 | DYM | c.1454T>G (p.Ile485Ser) c.884T>G (p.Ile295Ser) c.118T>G c.1451T>G (p.Ile484Ser) c.1286T>G (p.Ile429Ser) c.1448T>G (p.Ile483Ser) c.1274T>G (p.Ile425Ser) n.1811T>G c.1328T>G (p.Ile443Ser) c.1271T>G (p.Ile424Ser) c.1226T>G (p.Ile409Ser) c.881T>G (p.Ile294Ser) | |
18 | g.49257016A>G | CA402506494 | DYM | c.1454T>C (p.Ile485Thr) c.884T>C (p.Ile295Thr) c.118T>C c.1451T>C (p.Ile484Thr) c.1286T>C (p.Ile429Thr) c.1448T>C (p.Ile483Thr) c.1274T>C (p.Ile425Thr) n.1811T>C c.1328T>C (p.Ile443Thr) c.1271T>C (p.Ile424Thr) c.1226T>C (p.Ile409Thr) c.881T>C (p.Ile294Thr) | |
18 | g.49257016A>T | CA402506495 | DYM | c.1454T>A (p.Ile485Asn) c.884T>A (p.Ile295Asn) c.118T>A c.1451T>A (p.Ile484Asn) c.1286T>A (p.Ile429Asn) c.1448T>A (p.Ile483Asn) c.1274T>A (p.Ile425Asn) n.1811T>A c.1328T>A (p.Ile443Asn) c.1271T>A (p.Ile424Asn) c.1226T>A (p.Ile409Asn) c.881T>A (p.Ile294Asn) | |
18 | g.49257017T>A | CA402506497 | DYM | c.1453A>T (p.Ile485Phe) c.883A>T (p.Ile295Phe) c.117A>T c.1450A>T (p.Ile484Phe) c.1285A>T (p.Ile429Phe) c.1447A>T (p.Ile483Phe) c.1273A>T (p.Ile425Phe) n.1810A>T c.1327A>T (p.Ile443Phe) c.1270A>T (p.Ile424Phe) c.1225A>T (p.Ile409Phe) c.880A>T (p.Ile294Phe) | |
18 | g.49257017T>C | CA402506496 | DYM | c.1453A>G (p.Ile485Val) c.883A>G (p.Ile295Val) c.117A>G c.1450A>G (p.Ile484Val) c.1285A>G (p.Ile429Val) c.1447A>G (p.Ile483Val) c.1273A>G (p.Ile425Val) n.1810A>G c.1327A>G (p.Ile443Val) c.1270A>G (p.Ile424Val) c.1225A>G (p.Ile409Val) c.880A>G (p.Ile294Val) | gnomAD v4 |
18 | g.49257017T>G | CA300376751 | DYM | c.1453A>C (p.Ile485Leu) c.883A>C (p.Ile295Leu) c.117A>C c.1450A>C (p.Ile484Leu) c.1285A>C (p.Ile429Leu) c.1447A>C (p.Ile483Leu) c.1273A>C (p.Ile425Leu) n.1810A>C c.1327A>C (p.Ile443Leu) c.1270A>C (p.Ile424Leu) c.1225A>C (p.Ile409Leu) c.880A>C (p.Ile294Leu) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.49257017T= | CA2302132429 | DYM | c.1453A= (p.Ile485=) c.883A= (p.Ile295=) c.117A= c.1450A= (p.Ile484=) c.1285A= (p.Ile429=) c.1447A= (p.Ile483=) c.1273A= (p.Ile425=) n.1810A= c.1327A= (p.Ile443=) c.1270A= (p.Ile424=) c.1225A= (p.Ile409=) c.880A= (p.Ile294=) | |
18 | g.49257018C>A | CA402506498 | DYM | c.1452G>T (p.Arg484Ser) c.882G>T (p.Arg294Ser) c.116G>T c.1449G>T (p.Arg483Ser) c.1284G>T (p.Arg428Ser) c.1446G>T (p.Arg482Ser) c.1272G>T (p.Arg424Ser) n.1809G>T c.1326G>T (p.Arg442Ser) c.1269G>T (p.Arg423Ser) c.1224G>T (p.Arg408Ser) c.879G>T (p.Arg293Ser) | |
18 | g.49257018C= | CA2302132430 | DYM | c.1452G= (p.Arg484=) c.882G= (p.Arg294=) c.116G= c.1449G= (p.Arg483=) c.1284G= (p.Arg428=) c.1446G= (p.Arg482=) c.1272G= (p.Arg424=) n.1809G= c.1326G= (p.Arg442=) c.1269G= (p.Arg423=) c.1224G= (p.Arg408=) c.879G= (p.Arg293=) | |
18 | g.49257018C>G | CA402506499 | DYM | c.1452G>C (p.Arg484Ser) c.882G>C (p.Arg294Ser) c.116G>C c.1449G>C (p.Arg483Ser) c.1284G>C (p.Arg428Ser) c.1446G>C (p.Arg482Ser) c.1272G>C (p.Arg424Ser) n.1809G>C c.1326G>C (p.Arg442Ser) c.1269G>C (p.Arg423Ser) c.1224G>C (p.Arg408Ser) c.879G>C (p.Arg293Ser) | |
18 | g.49257018C>T | CA503938839 | DYM | c.1452G>A (p.Arg484=) c.882G>A (p.Arg294=) c.116G>A c.1449G>A (p.Arg483=) c.1284G>A (p.Arg428=) c.1446G>A (p.Arg482=) c.1272G>A (p.Arg424=) n.1809G>A c.1326G>A (p.Arg442=) c.1269G>A (p.Arg423=) c.1224G>A (p.Arg408=) c.879G>A (p.Arg293=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49257019C>A | CA402506500 | DYM | c.1451G>T (p.Arg484Met) c.881G>T (p.Arg294Met) c.115G>T c.1448G>T (p.Arg483Met) c.1283G>T (p.Arg428Met) c.1445G>T (p.Arg482Met) c.1271G>T (p.Arg424Met) n.1808G>T c.1325G>T (p.Arg442Met) c.1268G>T (p.Arg423Met) c.1223G>T (p.Arg408Met) c.878G>T (p.Arg293Met) | |
18 | g.49257019C= | CA2302132431 | DYM | c.1451G= (p.Arg484=) c.881G= (p.Arg294=) c.115G= c.1448G= (p.Arg483=) c.1283G= (p.Arg428=) c.1445G= (p.Arg482=) c.1271G= (p.Arg424=) n.1808G= c.1325G= (p.Arg442=) c.1268G= (p.Arg423=) c.1223G= (p.Arg408=) c.878G= (p.Arg293=) | |
18 | g.49257019C>G | CA402506501 | DYM | c.1451G>C (p.Arg484Thr) c.881G>C (p.Arg294Thr) c.115G>C c.1448G>C (p.Arg483Thr) c.1283G>C (p.Arg428Thr) c.1445G>C (p.Arg482Thr) c.1271G>C (p.Arg424Thr) n.1808G>C c.1325G>C (p.Arg442Thr) c.1268G>C (p.Arg423Thr) c.1223G>C (p.Arg408Thr) c.878G>C (p.Arg293Thr) | |
18 | g.49257019C>T | CA402506502 | DYM | c.1451G>A (p.Arg484Lys) c.881G>A (p.Arg294Lys) c.115G>A c.1448G>A (p.Arg483Lys) c.1283G>A (p.Arg428Lys) c.1445G>A (p.Arg482Lys) c.1271G>A (p.Arg424Lys) n.1808G>A c.1325G>A (p.Arg442Lys) c.1268G>A (p.Arg423Lys) c.1223G>A (p.Arg408Lys) c.878G>A (p.Arg293Lys) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.49257020T>A | CA402506503 | DYM | c.1450A>T (p.Arg484Trp) c.880A>T (p.Arg294Trp) c.114A>T c.1447A>T (p.Arg483Trp) c.1282A>T (p.Arg428Trp) c.1444A>T (p.Arg482Trp) c.1270A>T (p.Arg424Trp) n.1807A>T c.1324A>T (p.Arg442Trp) c.1267A>T (p.Arg423Trp) c.1222A>T (p.Arg408Trp) c.877A>T (p.Arg293Trp) | |
18 | g.49257020T>C | CA402506504 | DYM | c.1450A>G (p.Arg484Gly) c.880A>G (p.Arg294Gly) c.114A>G c.1447A>G (p.Arg483Gly) c.1282A>G (p.Arg428Gly) c.1444A>G (p.Arg482Gly) c.1270A>G (p.Arg424Gly) n.1807A>G c.1324A>G (p.Arg442Gly) c.1267A>G (p.Arg423Gly) c.1222A>G (p.Arg408Gly) c.877A>G (p.Arg293Gly) | |
18 | g.49257020T>G | CA503938840 | DYM | c.1450A>C (p.Arg484=) c.880A>C (p.Arg294=) c.114A>C c.1447A>C (p.Arg483=) c.1282A>C (p.Arg428=) c.1444A>C (p.Arg482=) c.1270A>C (p.Arg424=) n.1807A>C c.1324A>C (p.Arg442=) c.1267A>C (p.Arg423=) c.1222A>C (p.Arg408=) c.877A>C (p.Arg293=) | |
18 | g.49257020T= | CA2302132432 | DYM | c.1450A= (p.Arg484=) c.880A= (p.Arg294=) c.114A= c.1447A= (p.Arg483=) c.1282A= (p.Arg428=) c.1444A= (p.Arg482=) c.1270A= (p.Arg424=) n.1807A= c.1324A= (p.Arg442=) c.1267A= (p.Arg423=) c.1222A= (p.Arg408=) c.877A= (p.Arg293=) | |
18 | g.49257020_49257021insG | CA300376752 | DYM | c.1449_1450insC (p.Arg484GlnfsTer?) c.1449_1450insC (p.Arg484GlnfsTer11) c.879_880insC (p.Arg294GlnfsTer11) c.113_114insC c.1449_1450insC (p.Arg484GlnfsTer7) c.1446_1447insC (p.Arg483GlnfsTer11) c.1281_1282insC (p.Arg428GlnfsTer11) c.1446_1447insC (p.Arg483GlnfsTer?) c.1443_1444insC (p.Arg482GlnfsTer11) c.1269_1270insC (p.Arg424GlnfsTer11) n.1806_1807insC c.1443_1444insC (p.Arg482GlnfsTer?) c.1323_1324insC (p.Arg442GlnfsTer?) c.1323_1324insC (p.Arg442GlnfsTer11) c.1266_1267insC (p.Arg423GlnfsTer11) c.1221_1222insC (p.Arg408GlnfsTer11) c.879_880insC (p.Arg294GlnfsTer?) c.876_877insC (p.Arg293GlnfsTer11) | dbSNP |
18 | g.49257021C>A | CA402506505 | DYM | c.1449G>T (p.Gln483His) c.879G>T (p.Gln293His) c.113G>T c.1446G>T (p.Gln482His) c.1281G>T (p.Gln427His) c.1443G>T (p.Gln481His) c.1269G>T (p.Gln423His) n.1806G>T c.1323G>T (p.Gln441His) c.1266G>T (p.Gln422His) c.1221G>T (p.Gln407His) c.876G>T (p.Gln292His) | |
18 | g.49257021C>G | CA402506506 | DYM | c.1449G>C (p.Gln483His) c.879G>C (p.Gln293His) c.113G>C c.1446G>C (p.Gln482His) c.1281G>C (p.Gln427His) c.1443G>C (p.Gln481His) c.1269G>C (p.Gln423His) n.1806G>C c.1323G>C (p.Gln441His) c.1266G>C (p.Gln422His) c.1221G>C (p.Gln407His) c.876G>C (p.Gln292His) | |
18 | g.49257021C>T | CA503938841 | DYM | c.1449G>A (p.Gln483=) c.879G>A (p.Gln293=) c.113G>A c.1446G>A (p.Gln482=) c.1281G>A (p.Gln427=) c.1443G>A (p.Gln481=) c.1269G>A (p.Gln423=) n.1806G>A c.1323G>A (p.Gln441=) c.1266G>A (p.Gln422=) c.1221G>A (p.Gln407=) c.876G>A (p.Gln292=) | |
18 | g.49257022T>A | CA402506507 | DYM | c.1448A>T (p.Gln483Leu) c.878A>T (p.Gln293Leu) c.112A>T c.1445A>T (p.Gln482Leu) c.1280A>T (p.Gln427Leu) c.1442A>T (p.Gln481Leu) c.1268A>T (p.Gln423Leu) n.1805A>T c.1322A>T (p.Gln441Leu) c.1265A>T (p.Gln422Leu) c.1220A>T (p.Gln407Leu) c.875A>T (p.Gln292Leu) | |
18 | g.49257022T>C | CA402506508 | DYM | c.1448A>G (p.Gln483Arg) c.878A>G (p.Gln293Arg) c.112A>G c.1445A>G (p.Gln482Arg) c.1280A>G (p.Gln427Arg) c.1442A>G (p.Gln481Arg) c.1268A>G (p.Gln423Arg) n.1805A>G c.1322A>G (p.Gln441Arg) c.1265A>G (p.Gln422Arg) c.1220A>G (p.Gln407Arg) c.875A>G (p.Gln292Arg) | |
18 | g.49257022T>G | CA402506509 | DYM | c.1448A>C (p.Gln483Pro) c.878A>C (p.Gln293Pro) c.112A>C c.1445A>C (p.Gln482Pro) c.1280A>C (p.Gln427Pro) c.1442A>C (p.Gln481Pro) c.1268A>C (p.Gln423Pro) n.1805A>C c.1322A>C (p.Gln441Pro) c.1265A>C (p.Gln422Pro) c.1220A>C (p.Gln407Pro) c.875A>C (p.Gln292Pro) | |
18 | g.49257023G>A | CA402506512 | DYM | c.1447C>T (p.Gln483Ter) c.877C>T (p.Gln293Ter) c.111C>T c.1444C>T (p.Gln482Ter) c.1279C>T (p.Gln427Ter) c.1441C>T (p.Gln481Ter) c.1267C>T (p.Gln423Ter) n.1804C>T c.1321C>T (p.Gln441Ter) c.1264C>T (p.Gln422Ter) c.1219C>T (p.Gln407Ter) c.874C>T (p.Gln292Ter) | |
18 | g.49257023G>C | CA402506510 | DYM | c.1447C>G (p.Gln483Glu) c.877C>G (p.Gln293Glu) c.111C>G c.1444C>G (p.Gln482Glu) c.1279C>G (p.Gln427Glu) c.1441C>G (p.Gln481Glu) c.1267C>G (p.Gln423Glu) n.1804C>G c.1321C>G (p.Gln441Glu) c.1264C>G (p.Gln422Glu) c.1219C>G (p.Gln407Glu) c.874C>G (p.Gln292Glu) | |
18 | g.49257023G>T | CA402506511 | DYM | c.1447C>A (p.Gln483Lys) c.877C>A (p.Gln293Lys) c.111C>A c.1444C>A (p.Gln482Lys) c.1279C>A (p.Gln427Lys) c.1441C>A (p.Gln481Lys) c.1267C>A (p.Gln423Lys) n.1804C>A c.1321C>A (p.Gln441Lys) c.1264C>A (p.Gln422Lys) c.1219C>A (p.Gln407Lys) c.874C>A (p.Gln292Lys) | |
18 | g.49257024G>A | CA503938842 | DYM | c.1446C>T (p.Ala482=) c.876C>T (p.Ala292=) c.110C>T c.1443C>T (p.Ala481=) c.1278C>T (p.Ala426=) c.1440C>T (p.Ala480=) c.1266C>T (p.Ala422=) n.1803C>T c.1320C>T (p.Ala440=) c.1263C>T (p.Ala421=) c.1218C>T (p.Ala406=) c.873C>T (p.Ala291=) | |
18 | g.49257024G>C | CA503938843 | DYM | c.1446C>G (p.Ala482=) c.876C>G (p.Ala292=) c.110C>G c.1443C>G (p.Ala481=) c.1278C>G (p.Ala426=) c.1440C>G (p.Ala480=) c.1266C>G (p.Ala422=) n.1803C>G c.1320C>G (p.Ala440=) c.1263C>G (p.Ala421=) c.1218C>G (p.Ala406=) c.873C>G (p.Ala291=) | |
18 | g.49257024G>T | CA503938844 | DYM | c.1446C>A (p.Ala482=) c.876C>A (p.Ala292=) c.110C>A c.1443C>A (p.Ala481=) c.1278C>A (p.Ala426=) c.1440C>A (p.Ala480=) c.1266C>A (p.Ala422=) n.1803C>A c.1320C>A (p.Ala440=) c.1263C>A (p.Ala421=) c.1218C>A (p.Ala406=) c.873C>A (p.Ala291=) | |
18 | g.49257025G>A | CA402506513 | DYM | c.1445C>T (p.Ala482Val) c.875C>T (p.Ala292Val) c.109C>T c.1442C>T (p.Ala481Val) c.1277C>T (p.Ala426Val) c.1439C>T (p.Ala480Val) c.1265C>T (p.Ala422Val) n.1802C>T c.1319C>T (p.Ala440Val) c.1262C>T (p.Ala421Val) c.1217C>T (p.Ala406Val) c.872C>T (p.Ala291Val) | |
18 | g.49257025G>C | CA402506514 | DYM | c.1445C>G (p.Ala482Gly) c.875C>G (p.Ala292Gly) c.109C>G c.1442C>G (p.Ala481Gly) c.1277C>G (p.Ala426Gly) c.1439C>G (p.Ala480Gly) c.1265C>G (p.Ala422Gly) n.1802C>G c.1319C>G (p.Ala440Gly) c.1262C>G (p.Ala421Gly) c.1217C>G (p.Ala406Gly) c.872C>G (p.Ala291Gly) | |
18 | g.49257025G>T | CA402506515 | DYM | c.1445C>A (p.Ala482Asp) c.875C>A (p.Ala292Asp) c.109C>A c.1442C>A (p.Ala481Asp) c.1277C>A (p.Ala426Asp) c.1439C>A (p.Ala480Asp) c.1265C>A (p.Ala422Asp) n.1802C>A c.1319C>A (p.Ala440Asp) c.1262C>A (p.Ala421Asp) c.1217C>A (p.Ala406Asp) c.872C>A (p.Ala291Asp) | |
18 | g.49257026C>A | CA402506516 | DYM | c.1444G>T (p.Ala482Ser) c.874G>T (p.Ala292Ser) c.108G>T c.1441G>T (p.Ala481Ser) c.1276G>T (p.Ala426Ser) c.1438G>T (p.Ala480Ser) c.1264G>T (p.Ala422Ser) n.1801G>T c.1318G>T (p.Ala440Ser) c.1261G>T (p.Ala421Ser) c.1216G>T (p.Ala406Ser) c.871G>T (p.Ala291Ser) | gnomAD v4 |
18 | g.49257026C= | CA2302132433 | DYM | c.1444G= (p.Ala482=) c.874G= (p.Ala292=) c.108G= c.1441G= (p.Ala481=) c.1276G= (p.Ala426=) c.1438G= (p.Ala480=) c.1264G= (p.Ala422=) n.1801G= c.1318G= (p.Ala440=) c.1261G= (p.Ala421=) c.1216G= (p.Ala406=) c.871G= (p.Ala291=) | |
18 | g.49257026C>G | CA402506517 | DYM | c.1444G>C (p.Ala482Pro) c.874G>C (p.Ala292Pro) c.108G>C c.1441G>C (p.Ala481Pro) c.1276G>C (p.Ala426Pro) c.1438G>C (p.Ala480Pro) c.1264G>C (p.Ala422Pro) n.1801G>C c.1318G>C (p.Ala440Pro) c.1261G>C (p.Ala421Pro) c.1216G>C (p.Ala406Pro) c.871G>C (p.Ala291Pro) | |
18 | g.49257026C>T | CA402506518 | DYM | c.1444G>A (p.Ala482Thr) c.874G>A (p.Ala292Thr) c.108G>A c.1441G>A (p.Ala481Thr) c.1276G>A (p.Ala426Thr) c.1438G>A (p.Ala480Thr) c.1264G>A (p.Ala422Thr) n.1801G>A c.1318G>A (p.Ala440Thr) c.1261G>A (p.Ala421Thr) c.1216G>A (p.Ala406Thr) c.871G>A (p.Ala291Thr) | dbSNP |
18 | g.49257027A>C | CA503938847 | DYM | c.1443T>G (p.Ala481=) c.873T>G (p.Ala291=) c.107T>G c.1440T>G (p.Ala480=) c.1275T>G (p.Ala425=) c.1437T>G (p.Ala479=) c.1263T>G (p.Ala421=) n.1800T>G c.1317T>G (p.Ala439=) c.1260T>G (p.Ala420=) c.1215T>G (p.Ala405=) c.870T>G (p.Ala290=) | |
18 | g.49257027A>G | CA503938846 | DYM | c.1443T>C (p.Ala481=) c.873T>C (p.Ala291=) c.107T>C c.1440T>C (p.Ala480=) c.1275T>C (p.Ala425=) c.1437T>C (p.Ala479=) c.1263T>C (p.Ala421=) n.1800T>C c.1317T>C (p.Ala439=) c.1260T>C (p.Ala420=) c.1215T>C (p.Ala405=) c.870T>C (p.Ala290=) | |
18 | g.49257027A>T | CA503938845 | DYM | c.1443T>A (p.Ala481=) c.873T>A (p.Ala291=) c.107T>A c.1440T>A (p.Ala480=) c.1275T>A (p.Ala425=) c.1437T>A (p.Ala479=) c.1263T>A (p.Ala421=) n.1800T>A c.1317T>A (p.Ala439=) c.1260T>A (p.Ala420=) c.1215T>A (p.Ala405=) c.870T>A (p.Ala290=) | gnomAD v4 |
18 | g.49257028G>A | CA402506519 | DYM | c.1442C>T (p.Ala481Val) c.872C>T (p.Ala291Val) c.106C>T c.1439C>T (p.Ala480Val) c.1274C>T (p.Ala425Val) c.1436C>T (p.Ala479Val) c.1262C>T (p.Ala421Val) n.1799C>T c.1316C>T (p.Ala439Val) c.1259C>T (p.Ala420Val) c.1214C>T (p.Ala405Val) c.869C>T (p.Ala290Val) | |
18 | g.49257028G>C | CA402506520 | DYM | c.1442C>G (p.Ala481Gly) c.872C>G (p.Ala291Gly) c.106C>G c.1439C>G (p.Ala480Gly) c.1274C>G (p.Ala425Gly) c.1436C>G (p.Ala479Gly) c.1262C>G (p.Ala421Gly) n.1799C>G c.1316C>G (p.Ala439Gly) c.1259C>G (p.Ala420Gly) c.1214C>G (p.Ala405Gly) c.869C>G (p.Ala290Gly) | |
18 | g.49257028G>T | CA402506521 | DYM | c.1442C>A (p.Ala481Asp) c.872C>A (p.Ala291Asp) c.106C>A c.1439C>A (p.Ala480Asp) c.1274C>A (p.Ala425Asp) c.1436C>A (p.Ala479Asp) c.1262C>A (p.Ala421Asp) n.1799C>A c.1316C>A (p.Ala439Asp) c.1259C>A (p.Ala420Asp) c.1214C>A (p.Ala405Asp) c.869C>A (p.Ala290Asp) | |
18 | g.49257028_49257029insATGGATGATCCTC | CA2641729072 | DYM | c.1441_1442insGAGGATCATCCAT (p.Ala481GlyfsTer?) c.1441_1442insGAGGATCATCCAT (p.Ala481GlyfsTer18) c.871_872insGAGGATCATCCAT (p.Ala291GlyfsTer18) c.105_106insGAGGATCATCCAT c.1441_1442insGAGGATCATCCAT (p.Ala481GlyfsTer14) c.1438_1439insGAGGATCATCCAT (p.Ala480GlyfsTer18) c.1273_1274insGAGGATCATCCAT (p.Ala425GlyfsTer18) c.1438_1439insGAGGATCATCCAT (p.Ala480GlyfsTer?) c.1435_1436insGAGGATCATCCAT (p.Ala479GlyfsTer18) c.1261_1262insGAGGATCATCCAT (p.Ala421GlyfsTer18) n.1798_1799insGAGGATCATCCAT c.1435_1436insGAGGATCATCCAT (p.Ala479GlyfsTer?) c.1315_1316insGAGGATCATCCAT (p.Ala439GlyfsTer?) c.1315_1316insGAGGATCATCCAT (p.Ala439GlyfsTer18) c.1258_1259insGAGGATCATCCAT (p.Ala420GlyfsTer18) c.1213_1214insGAGGATCATCCAT (p.Ala405GlyfsTer18) c.871_872insGAGGATCATCCAT (p.Ala291GlyfsTer?) c.868_869insGAGGATCATCCAT (p.Ala290GlyfsTer18) | gnomAD v4 |
18 | g.49257029C>A | CA402506522 | DYM | c.1441G>T (p.Ala481Ser) c.871G>T (p.Ala291Ser) c.105G>T c.1438G>T (p.Ala480Ser) c.1273G>T (p.Ala425Ser) c.1435G>T (p.Ala479Ser) c.1261G>T (p.Ala421Ser) n.1798G>T c.1315G>T (p.Ala439Ser) c.1258G>T (p.Ala420Ser) c.1213G>T (p.Ala405Ser) c.868G>T (p.Ala290Ser) | |
18 | g.49257029C>G | CA402506523 | DYM | c.1441G>C (p.Ala481Pro) c.871G>C (p.Ala291Pro) c.105G>C c.1438G>C (p.Ala480Pro) c.1273G>C (p.Ala425Pro) c.1435G>C (p.Ala479Pro) c.1261G>C (p.Ala421Pro) n.1798G>C c.1315G>C (p.Ala439Pro) c.1258G>C (p.Ala420Pro) c.1213G>C (p.Ala405Pro) c.868G>C (p.Ala290Pro) | |
18 | g.49257029C>T | CA402506524 | DYM | c.1441G>A (p.Ala481Thr) c.871G>A (p.Ala291Thr) c.105G>A c.1438G>A (p.Ala480Thr) c.1273G>A (p.Ala425Thr) c.1435G>A (p.Ala479Thr) c.1261G>A (p.Ala421Thr) n.1798G>A c.1315G>A (p.Ala439Thr) c.1258G>A (p.Ala420Thr) c.1213G>A (p.Ala405Thr) c.868G>A (p.Ala290Thr) | |
18 | g.49257030A>C | CA402506526 | DYM | c.1440T>G (p.Tyr480Ter) c.870T>G (p.Tyr290Ter) c.104T>G c.1437T>G (p.Tyr479Ter) c.1272T>G (p.Tyr424Ter) c.1434T>G (p.Tyr478Ter) c.1260T>G (p.Tyr420Ter) n.1797T>G c.1314T>G (p.Tyr438Ter) c.1257T>G (p.Tyr419Ter) c.1212T>G (p.Tyr404Ter) c.867T>G (p.Tyr289Ter) | |
18 | g.49257030A>G | CA503938848 | DYM | c.1440T>C (p.Tyr480=) c.870T>C (p.Tyr290=) c.104T>C c.1437T>C (p.Tyr479=) c.1272T>C (p.Tyr424=) c.1434T>C (p.Tyr478=) c.1260T>C (p.Tyr420=) n.1797T>C c.1314T>C (p.Tyr438=) c.1257T>C (p.Tyr419=) c.1212T>C (p.Tyr404=) c.867T>C (p.Tyr289=) | |
18 | g.49257030A>T | CA402506525 | DYM | c.1440T>A (p.Tyr480Ter) c.870T>A (p.Tyr290Ter) c.104T>A c.1437T>A (p.Tyr479Ter) c.1272T>A (p.Tyr424Ter) c.1434T>A (p.Tyr478Ter) c.1260T>A (p.Tyr420Ter) n.1797T>A c.1314T>A (p.Tyr438Ter) c.1257T>A (p.Tyr419Ter) c.1212T>A (p.Tyr404Ter) c.867T>A (p.Tyr289Ter) | |
18 | g.49257031T>A | CA402506527 | DYM | c.1439A>T (p.Tyr480Phe) c.869A>T (p.Tyr290Phe) c.103A>T c.1436A>T (p.Tyr479Phe) c.1271A>T (p.Tyr424Phe) c.1433A>T (p.Tyr478Phe) c.1259A>T (p.Tyr420Phe) n.1796A>T c.1313A>T (p.Tyr438Phe) c.1256A>T (p.Tyr419Phe) c.1211A>T (p.Tyr404Phe) c.866A>T (p.Tyr289Phe) | |
18 | g.49257031T>C | CA402506529 | DYM | c.1439A>G (p.Tyr480Cys) c.869A>G (p.Tyr290Cys) c.103A>G c.1436A>G (p.Tyr479Cys) c.1271A>G (p.Tyr424Cys) c.1433A>G (p.Tyr478Cys) c.1259A>G (p.Tyr420Cys) n.1796A>G c.1313A>G (p.Tyr438Cys) c.1256A>G (p.Tyr419Cys) c.1211A>G (p.Tyr404Cys) c.866A>G (p.Tyr289Cys) | dbSNP gnomAD v4 |
18 | g.49257031T>G | CA402506528 | DYM | c.1439A>C (p.Tyr480Ser) c.869A>C (p.Tyr290Ser) c.103A>C c.1436A>C (p.Tyr479Ser) c.1271A>C (p.Tyr424Ser) c.1433A>C (p.Tyr478Ser) c.1259A>C (p.Tyr420Ser) n.1796A>C c.1313A>C (p.Tyr438Ser) c.1256A>C (p.Tyr419Ser) c.1211A>C (p.Tyr404Ser) c.866A>C (p.Tyr289Ser) | |
18 | g.49257031T= | CA2302132434 | DYM | c.1439A= (p.Tyr480=) c.869A= (p.Tyr290=) c.103A= c.1436A= (p.Tyr479=) c.1271A= (p.Tyr424=) c.1433A= (p.Tyr478=) c.1259A= (p.Tyr420=) n.1796A= c.1313A= (p.Tyr438=) c.1256A= (p.Tyr419=) c.1211A= (p.Tyr404=) c.866A= (p.Tyr289=) | |
18 | g.49257032A= | CA2302132435 | DYM | c.1438T= (p.Tyr480=) c.868T= (p.Tyr290=) c.102T= c.1435T= (p.Tyr479=) c.1270T= (p.Tyr424=) c.1432T= (p.Tyr478=) c.1258T= (p.Tyr420=) n.1795T= c.1312T= (p.Tyr438=) c.1255T= (p.Tyr419=) c.1210T= (p.Tyr404=) c.865T= (p.Tyr289=) | |
18 | g.49257032A>C | CA402506530 | DYM | c.1438T>G (p.Tyr480Asp) c.868T>G (p.Tyr290Asp) c.102T>G c.1435T>G (p.Tyr479Asp) c.1270T>G (p.Tyr424Asp) c.1432T>G (p.Tyr478Asp) c.1258T>G (p.Tyr420Asp) n.1795T>G c.1312T>G (p.Tyr438Asp) c.1255T>G (p.Tyr419Asp) c.1210T>G (p.Tyr404Asp) c.865T>G (p.Tyr289Asp) | |
18 | g.49257032A>G | CA402506531 | DYM | c.1438T>C (p.Tyr480His) c.868T>C (p.Tyr290His) c.102T>C c.1435T>C (p.Tyr479His) c.1270T>C (p.Tyr424His) c.1432T>C (p.Tyr478His) c.1258T>C (p.Tyr420His) n.1795T>C c.1312T>C (p.Tyr438His) c.1255T>C (p.Tyr419His) c.1210T>C (p.Tyr404His) c.865T>C (p.Tyr289His) | dbSNP |
18 | g.49257032A>T | CA402506532 | DYM | c.1438T>A (p.Tyr480Asn) c.868T>A (p.Tyr290Asn) c.102T>A c.1435T>A (p.Tyr479Asn) c.1270T>A (p.Tyr424Asn) c.1432T>A (p.Tyr478Asn) c.1258T>A (p.Tyr420Asn) n.1795T>A c.1312T>A (p.Tyr438Asn) c.1255T>A (p.Tyr419Asn) c.1210T>A (p.Tyr404Asn) c.865T>A (p.Tyr289Asn) | |
18 | g.49257033C>A | CA402506533 | DYM | c.1437G>T (p.Gln479His) c.867G>T (p.Gln289His) c.101G>T c.1434G>T (p.Gln478His) c.1269G>T (p.Gln423His) c.1431G>T (p.Gln477His) c.1257G>T (p.Gln419His) n.1794G>T c.1311G>T (p.Gln437His) c.1254G>T (p.Gln418His) c.1209G>T (p.Gln403His) c.864G>T (p.Gln288His) | |
18 | g.49257033C>G | CA402506534 | DYM | c.1437G>C (p.Gln479His) c.867G>C (p.Gln289His) c.101G>C c.1434G>C (p.Gln478His) c.1269G>C (p.Gln423His) c.1431G>C (p.Gln477His) c.1257G>C (p.Gln419His) n.1794G>C c.1311G>C (p.Gln437His) c.1254G>C (p.Gln418His) c.1209G>C (p.Gln403His) c.864G>C (p.Gln288His) | |
18 | g.49257033C>T | CA503938849 | DYM | c.1437G>A (p.Gln479=) c.867G>A (p.Gln289=) c.101G>A c.1434G>A (p.Gln478=) c.1269G>A (p.Gln423=) c.1431G>A (p.Gln477=) c.1257G>A (p.Gln419=) n.1794G>A c.1311G>A (p.Gln437=) c.1254G>A (p.Gln418=) c.1209G>A (p.Gln403=) c.864G>A (p.Gln288=) | |
18 | g.49257034T>A | CA402506535 | DYM | c.1436A>T (p.Gln479Leu) c.866A>T (p.Gln289Leu) c.100A>T c.1433A>T (p.Gln478Leu) c.1268A>T (p.Gln423Leu) c.1430A>T (p.Gln477Leu) c.1256A>T (p.Gln419Leu) n.1793A>T c.1310A>T (p.Gln437Leu) c.1253A>T (p.Gln418Leu) c.1208A>T (p.Gln403Leu) c.863A>T (p.Gln288Leu) | |
18 | g.49257034T>C | CA402506536 | DYM | c.1436A>G (p.Gln479Arg) c.866A>G (p.Gln289Arg) c.100A>G c.1433A>G (p.Gln478Arg) c.1268A>G (p.Gln423Arg) c.1430A>G (p.Gln477Arg) c.1256A>G (p.Gln419Arg) n.1793A>G c.1310A>G (p.Gln437Arg) c.1253A>G (p.Gln418Arg) c.1208A>G (p.Gln403Arg) c.863A>G (p.Gln288Arg) | |
18 | g.49257034T>G | CA402506537 | DYM | c.1436A>C (p.Gln479Pro) c.866A>C (p.Gln289Pro) c.100A>C c.1433A>C (p.Gln478Pro) c.1268A>C (p.Gln423Pro) c.1430A>C (p.Gln477Pro) c.1256A>C (p.Gln419Pro) n.1793A>C c.1310A>C (p.Gln437Pro) c.1253A>C (p.Gln418Pro) c.1208A>C (p.Gln403Pro) c.863A>C (p.Gln288Pro) | |
18 | g.49257035G>A | CA8958087 | DYM | c.1435C>T (p.Gln479Ter) c.865C>T (p.Gln289Ter) c.99C>T c.1432C>T (p.Gln478Ter) c.1267C>T (p.Gln423Ter) c.1429C>T (p.Gln477Ter) c.1255C>T (p.Gln419Ter) n.1792C>T c.1309C>T (p.Gln437Ter) c.1252C>T (p.Gln418Ter) c.1207C>T (p.Gln403Ter) c.862C>T (p.Gln288Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.49257035G>C | CA402506538 | DYM | c.1435C>G (p.Gln479Glu) c.865C>G (p.Gln289Glu) c.99C>G c.1432C>G (p.Gln478Glu) c.1267C>G (p.Gln423Glu) c.1429C>G (p.Gln477Glu) c.1255C>G (p.Gln419Glu) n.1792C>G c.1309C>G (p.Gln437Glu) c.1252C>G (p.Gln418Glu) c.1207C>G (p.Gln403Glu) c.862C>G (p.Gln288Glu) | |
18 | g.49257035G= | CA2302132436 | DYM | c.1435C= (p.Gln479=) c.865C= (p.Gln289=) c.99C= c.1432C= (p.Gln478=) c.1267C= (p.Gln423=) c.1429C= (p.Gln477=) c.1255C= (p.Gln419=) n.1792C= c.1309C= (p.Gln437=) c.1252C= (p.Gln418=) c.1207C= (p.Gln403=) c.862C= (p.Gln288=) | |
18 | g.49257035G>T | CA402506539 | DYM | c.1435C>A (p.Gln479Lys) c.865C>A (p.Gln289Lys) c.99C>A c.1432C>A (p.Gln478Lys) c.1267C>A (p.Gln423Lys) c.1429C>A (p.Gln477Lys) c.1255C>A (p.Gln419Lys) n.1792C>A c.1309C>A (p.Gln437Lys) c.1252C>A (p.Gln418Lys) c.1207C>A (p.Gln403Lys) c.862C>A (p.Gln288Lys) | |
18 | g.49257036A>C | CA402506541 | DYM | c.1434T>G (p.His478Gln) c.864T>G (p.His288Gln) c.98T>G c.1431T>G (p.His477Gln) c.1266T>G (p.His422Gln) c.1428T>G (p.His476Gln) c.1254T>G (p.His418Gln) n.1791T>G c.1308T>G (p.His436Gln) c.1251T>G (p.His417Gln) c.1206T>G (p.His402Gln) c.861T>G (p.His287Gln) | gnomAD v4 |
18 | g.49257036A>G | CA503938850 | DYM | c.1434T>C (p.His478=) c.864T>C (p.His288=) c.98T>C c.1431T>C (p.His477=) c.1266T>C (p.His422=) c.1428T>C (p.His476=) c.1254T>C (p.His418=) n.1791T>C c.1308T>C (p.His436=) c.1251T>C (p.His417=) c.1206T>C (p.His402=) c.861T>C (p.His287=) | |
18 | g.49257036A>T | CA402506540 | DYM | c.1434T>A (p.His478Gln) c.864T>A (p.His288Gln) c.98T>A c.1431T>A (p.His477Gln) c.1266T>A (p.His422Gln) c.1428T>A (p.His476Gln) c.1254T>A (p.His418Gln) n.1791T>A c.1308T>A (p.His436Gln) c.1251T>A (p.His417Gln) c.1206T>A (p.His402Gln) c.861T>A (p.His287Gln) | |
18 | g.49257037T>A | CA402506542 | DYM | c.1433A>T (p.His478Leu) c.863A>T (p.His288Leu) c.97A>T c.1430A>T (p.His477Leu) c.1265A>T (p.His422Leu) c.1427A>T (p.His476Leu) c.1253A>T (p.His418Leu) n.1790A>T c.1307A>T (p.His436Leu) c.1250A>T (p.His417Leu) c.1205A>T (p.His402Leu) c.860A>T (p.His287Leu) | |
18 | g.49257037T>C | CA300376753 | DYM | c.1433A>G (p.His478Arg) c.863A>G (p.His288Arg) c.97A>G c.1430A>G (p.His477Arg) c.1265A>G (p.His422Arg) c.1427A>G (p.His476Arg) c.1253A>G (p.His418Arg) n.1790A>G c.1307A>G (p.His436Arg) c.1250A>G (p.His417Arg) c.1205A>G (p.His402Arg) c.860A>G (p.His287Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49257037T>G | CA402506543 | DYM | c.1433A>C (p.His478Pro) c.863A>C (p.His288Pro) c.97A>C c.1430A>C (p.His477Pro) c.1265A>C (p.His422Pro) c.1427A>C (p.His476Pro) c.1253A>C (p.His418Pro) n.1790A>C c.1307A>C (p.His436Pro) c.1250A>C (p.His417Pro) c.1205A>C (p.His402Pro) c.860A>C (p.His287Pro) | |
18 | g.49257037T= | CA2302132437 | DYM | c.1433A= (p.His478=) c.863A= (p.His288=) c.97A= c.1430A= (p.His477=) c.1265A= (p.His422=) c.1427A= (p.His476=) c.1253A= (p.His418=) n.1790A= c.1307A= (p.His436=) c.1250A= (p.His417=) c.1205A= (p.His402=) c.860A= (p.His287=) | |
18 | g.49257038G>A | CA402506544 | DYM | c.1432C>T (p.His478Tyr) c.862C>T (p.His288Tyr) c.96C>T c.1429C>T (p.His477Tyr) c.1264C>T (p.His422Tyr) c.1426C>T (p.His476Tyr) c.1252C>T (p.His418Tyr) n.1789C>T c.1306C>T (p.His436Tyr) c.1249C>T (p.His417Tyr) c.1204C>T (p.His402Tyr) c.859C>T (p.His287Tyr) | |
18 | g.49257038G>C | CA402506545 | DYM | c.1432C>G (p.His478Asp) c.862C>G (p.His288Asp) c.96C>G c.1429C>G (p.His477Asp) c.1264C>G (p.His422Asp) c.1426C>G (p.His476Asp) c.1252C>G (p.His418Asp) n.1789C>G c.1306C>G (p.His436Asp) c.1249C>G (p.His417Asp) c.1204C>G (p.His402Asp) c.859C>G (p.His287Asp) | |
18 | g.49257038G>T | CA402506546 | DYM | c.1432C>A (p.His478Asn) c.862C>A (p.His288Asn) c.96C>A c.1429C>A (p.His477Asn) c.1264C>A (p.His422Asn) c.1426C>A (p.His476Asn) c.1252C>A (p.His418Asn) n.1789C>A c.1306C>A (p.His436Asn) c.1249C>A (p.His417Asn) c.1204C>A (p.His402Asn) c.859C>A (p.His287Asn) | |
18 | g.49257039G>A | CA503938851 | DYM | c.1431C>T (p.Leu477=) c.861C>T (p.Leu287=) c.95C>T c.1428C>T (p.Leu476=) c.1263C>T (p.Leu421=) c.1425C>T (p.Leu475=) c.1251C>T (p.Leu417=) n.1788C>T c.1305C>T (p.Leu435=) c.1248C>T (p.Leu416=) c.1203C>T (p.Leu401=) c.858C>T (p.Leu286=) | gnomAD v4 |
18 | g.49257039G>C | CA503938853 | DYM | c.1431C>G (p.Leu477=) c.861C>G (p.Leu287=) c.95C>G c.1428C>G (p.Leu476=) c.1263C>G (p.Leu421=) c.1425C>G (p.Leu475=) c.1251C>G (p.Leu417=) n.1788C>G c.1305C>G (p.Leu435=) c.1248C>G (p.Leu416=) c.1203C>G (p.Leu401=) c.858C>G (p.Leu286=) | |
18 | g.49257039G>T | CA503938852 | DYM | c.1431C>A (p.Leu477=) c.861C>A (p.Leu287=) c.95C>A c.1428C>A (p.Leu476=) c.1263C>A (p.Leu421=) c.1425C>A (p.Leu475=) c.1251C>A (p.Leu417=) n.1788C>A c.1305C>A (p.Leu435=) c.1248C>A (p.Leu416=) c.1203C>A (p.Leu401=) c.858C>A (p.Leu286=) | |
18 | g.49257040A>C | CA402506547 | DYM | c.1430T>G (p.Leu477Arg) c.860T>G (p.Leu287Arg) c.94T>G c.1427T>G (p.Leu476Arg) c.1262T>G (p.Leu421Arg) c.1424T>G (p.Leu475Arg) c.1250T>G (p.Leu417Arg) n.1787T>G c.1304T>G (p.Leu435Arg) c.1247T>G (p.Leu416Arg) c.1202T>G (p.Leu401Arg) c.857T>G (p.Leu286Arg) | |
18 | g.49257040A>G | CA402506548 | DYM | c.1430T>C (p.Leu477Pro) c.860T>C (p.Leu287Pro) c.94T>C c.1427T>C (p.Leu476Pro) c.1262T>C (p.Leu421Pro) c.1424T>C (p.Leu475Pro) c.1250T>C (p.Leu417Pro) n.1787T>C c.1304T>C (p.Leu435Pro) c.1247T>C (p.Leu416Pro) c.1202T>C (p.Leu401Pro) c.857T>C (p.Leu286Pro) | |
18 | g.49257040A>T | CA402506549 | DYM | c.1430T>A (p.Leu477His) c.860T>A (p.Leu287His) c.94T>A c.1427T>A (p.Leu476His) c.1262T>A (p.Leu421His) c.1424T>A (p.Leu475His) c.1250T>A (p.Leu417His) n.1787T>A c.1304T>A (p.Leu435His) c.1247T>A (p.Leu416His) c.1202T>A (p.Leu401His) c.857T>A (p.Leu286His) | |
18 | g.49257041G>A | CA402506550 | DYM | c.1429C>T (p.Leu477Phe) c.859C>T (p.Leu287Phe) c.93C>T c.1426C>T (p.Leu476Phe) c.1261C>T (p.Leu421Phe) c.1423C>T (p.Leu475Phe) c.1249C>T (p.Leu417Phe) n.1786C>T c.1303C>T (p.Leu435Phe) c.1246C>T (p.Leu416Phe) c.1201C>T (p.Leu401Phe) c.856C>T (p.Leu286Phe) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.49257041G>C | CA402506551 | DYM | c.1429C>G (p.Leu477Val) c.859C>G (p.Leu287Val) c.93C>G c.1426C>G (p.Leu476Val) c.1261C>G (p.Leu421Val) c.1423C>G (p.Leu475Val) c.1249C>G (p.Leu417Val) n.1786C>G c.1303C>G (p.Leu435Val) c.1246C>G (p.Leu416Val) c.1201C>G (p.Leu401Val) c.856C>G (p.Leu286Val) | |
18 | g.49257041G= | CA2302132438 | DYM | c.1429C= (p.Leu477=) c.859C= (p.Leu287=) c.93C= c.1426C= (p.Leu476=) c.1261C= (p.Leu421=) c.1423C= (p.Leu475=) c.1249C= (p.Leu417=) n.1786C= c.1303C= (p.Leu435=) c.1246C= (p.Leu416=) c.1201C= (p.Leu401=) c.856C= (p.Leu286=) | |
18 | g.49257041G>T | CA402506552 | DYM | c.1429C>A (p.Leu477Ile) c.859C>A (p.Leu287Ile) c.93C>A c.1426C>A (p.Leu476Ile) c.1261C>A (p.Leu421Ile) c.1423C>A (p.Leu475Ile) c.1249C>A (p.Leu417Ile) n.1786C>A c.1303C>A (p.Leu435Ile) c.1246C>A (p.Leu416Ile) c.1201C>A (p.Leu401Ile) c.856C>A (p.Leu286Ile) | |
18 | g.49257042A>C | CA503938854 | DYM | c.1428T>G (p.Ser476=) c.858T>G (p.Ser286=) c.92T>G c.1425T>G (p.Ser475=) c.1260T>G (p.Ser420=) c.1422T>G (p.Ser474=) c.1248T>G (p.Ser416=) n.1785T>G c.1302T>G (p.Ser434=) c.1245T>G (p.Ser415=) c.1200T>G (p.Ser400=) c.855T>G (p.Ser285=) | |
18 | g.49257042A>G | CA503938855 | DYM | c.1428T>C (p.Ser476=) c.858T>C (p.Ser286=) c.92T>C c.1425T>C (p.Ser475=) c.1260T>C (p.Ser420=) c.1422T>C (p.Ser474=) c.1248T>C (p.Ser416=) n.1785T>C c.1302T>C (p.Ser434=) c.1245T>C (p.Ser415=) c.1200T>C (p.Ser400=) c.855T>C (p.Ser285=) | |
18 | g.49257042A>T | CA503938856 | DYM | c.1428T>A (p.Ser476=) c.858T>A (p.Ser286=) c.92T>A c.1425T>A (p.Ser475=) c.1260T>A (p.Ser420=) c.1422T>A (p.Ser474=) c.1248T>A (p.Ser416=) n.1785T>A c.1302T>A (p.Ser434=) c.1245T>A (p.Ser415=) c.1200T>A (p.Ser400=) c.855T>A (p.Ser285=) | |
18 | g.49257043G>A | CA402506554 | DYM | c.1427C>T (p.Ser476Phe) c.857C>T (p.Ser286Phe) c.91C>T c.1424C>T (p.Ser475Phe) c.1259C>T (p.Ser420Phe) c.1421C>T (p.Ser474Phe) c.1247C>T (p.Ser416Phe) n.1784C>T c.1301C>T (p.Ser434Phe) c.1244C>T (p.Ser415Phe) c.1199C>T (p.Ser400Phe) c.854C>T (p.Ser285Phe) | |
18 | g.49257043G>C | CA402506555 | DYM | c.1427C>G (p.Ser476Cys) c.857C>G (p.Ser286Cys) c.91C>G c.1424C>G (p.Ser475Cys) c.1259C>G (p.Ser420Cys) c.1421C>G (p.Ser474Cys) c.1247C>G (p.Ser416Cys) n.1784C>G c.1301C>G (p.Ser434Cys) c.1244C>G (p.Ser415Cys) c.1199C>G (p.Ser400Cys) c.854C>G (p.Ser285Cys) | |
18 | g.49257043G>T | CA402506553 | DYM | c.1427C>A (p.Ser476Tyr) c.857C>A (p.Ser286Tyr) c.91C>A c.1424C>A (p.Ser475Tyr) c.1259C>A (p.Ser420Tyr) c.1421C>A (p.Ser474Tyr) c.1247C>A (p.Ser416Tyr) n.1784C>A c.1301C>A (p.Ser434Tyr) c.1244C>A (p.Ser415Tyr) c.1199C>A (p.Ser400Tyr) c.854C>A (p.Ser285Tyr) | |
18 | g.49257044A>C | CA402506556 | DYM | c.1426T>G (p.Ser476Ala) c.856T>G (p.Ser286Ala) c.90T>G c.1423T>G (p.Ser475Ala) c.1258T>G (p.Ser420Ala) c.1420T>G (p.Ser474Ala) c.1246T>G (p.Ser416Ala) n.1783T>G c.1300T>G (p.Ser434Ala) c.1243T>G (p.Ser415Ala) c.1198T>G (p.Ser400Ala) c.853T>G (p.Ser285Ala) | |
18 | g.49257044A>G | CA402506557 | DYM | c.1426T>C (p.Ser476Pro) c.856T>C (p.Ser286Pro) c.90T>C c.1423T>C (p.Ser475Pro) c.1258T>C (p.Ser420Pro) c.1420T>C (p.Ser474Pro) c.1246T>C (p.Ser416Pro) n.1783T>C c.1300T>C (p.Ser434Pro) c.1243T>C (p.Ser415Pro) c.1198T>C (p.Ser400Pro) c.853T>C (p.Ser285Pro) | |
18 | g.49257044A>T | CA402506558 | DYM | c.1426T>A (p.Ser476Thr) c.856T>A (p.Ser286Thr) c.90T>A c.1423T>A (p.Ser475Thr) c.1258T>A (p.Ser420Thr) c.1420T>A (p.Ser474Thr) c.1246T>A (p.Ser416Thr) n.1783T>A c.1300T>A (p.Ser434Thr) c.1243T>A (p.Ser415Thr) c.1198T>A (p.Ser400Thr) c.853T>A (p.Ser285Thr) | |
18 | g.49257045A= | CA2302132439 | DYM | c.1425T= (p.Arg475=) c.855T= (p.Arg285=) c.89T= c.1422T= (p.Arg474=) c.1257T= (p.Arg419=) c.1419T= (p.Arg473=) c.1245T= (p.Arg415=) n.1782T= c.1299T= (p.Arg433=) c.1242T= (p.Arg414=) c.1197T= (p.Arg399=) c.852T= (p.Arg284=) | |
18 | g.49257045A>C | CA503938857 | DYM | c.1425T>G (p.Arg475=) c.855T>G (p.Arg285=) c.89T>G c.1422T>G (p.Arg474=) c.1257T>G (p.Arg419=) c.1419T>G (p.Arg473=) c.1245T>G (p.Arg415=) n.1782T>G c.1299T>G (p.Arg433=) c.1242T>G (p.Arg414=) c.1197T>G (p.Arg399=) c.852T>G (p.Arg284=) | |
18 | g.49257045A>G | CA503938858 | DYM | c.1425T>C (p.Arg475=) c.855T>C (p.Arg285=) c.89T>C c.1422T>C (p.Arg474=) c.1257T>C (p.Arg419=) c.1419T>C (p.Arg473=) c.1245T>C (p.Arg415=) n.1782T>C c.1299T>C (p.Arg433=) c.1242T>C (p.Arg414=) c.1197T>C (p.Arg399=) c.852T>C (p.Arg284=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.49257045A>T | CA503938859 | DYM | c.1425T>A (p.Arg475=) c.855T>A (p.Arg285=) c.89T>A c.1422T>A (p.Arg474=) c.1257T>A (p.Arg419=) c.1419T>A (p.Arg473=) c.1245T>A (p.Arg415=) n.1782T>A c.1299T>A (p.Arg433=) c.1242T>A (p.Arg414=) c.1197T>A (p.Arg399=) c.852T>A (p.Arg284=) | |
18 | g.49257046C>A | CA402506559 | DYM | c.1424G>T (p.Arg475Leu) c.854G>T (p.Arg285Leu) c.88G>T c.1421G>T (p.Arg474Leu) c.1256G>T (p.Arg419Leu) c.1418G>T (p.Arg473Leu) c.1244G>T (p.Arg415Leu) n.1781G>T c.1298G>T (p.Arg433Leu) c.1241G>T (p.Arg414Leu) c.1196G>T (p.Arg399Leu) c.851G>T (p.Arg284Leu) | |
18 | g.49257046C= | CA2302132440 | DYM | c.1424G= (p.Arg475=) c.854G= (p.Arg285=) c.88G= c.1421G= (p.Arg474=) c.1256G= (p.Arg419=) c.1418G= (p.Arg473=) c.1244G= (p.Arg415=) n.1781G= c.1298G= (p.Arg433=) c.1241G= (p.Arg414=) c.1196G= (p.Arg399=) c.851G= (p.Arg284=) | |
18 | g.49257046C>G | CA402506560 | DYM | c.1424G>C (p.Arg475Pro) c.854G>C (p.Arg285Pro) c.88G>C c.1421G>C (p.Arg474Pro) c.1256G>C (p.Arg419Pro) c.1418G>C (p.Arg473Pro) c.1244G>C (p.Arg415Pro) n.1781G>C c.1298G>C (p.Arg433Pro) c.1241G>C (p.Arg414Pro) c.1196G>C (p.Arg399Pro) c.851G>C (p.Arg284Pro) | gnomAD v4 |
18 | g.49257046C>T | CA8958088 | DYM | c.1424G>A (p.Arg475His) c.854G>A (p.Arg285His) c.88G>A c.1421G>A (p.Arg474His) c.1256G>A (p.Arg419His) c.1418G>A (p.Arg473His) c.1244G>A (p.Arg415His) n.1781G>A c.1298G>A (p.Arg433His) c.1241G>A (p.Arg414His) c.1196G>A (p.Arg399His) c.851G>A (p.Arg284His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49257047G>A | CA8958089 | DYM | c.1423C>T (p.Arg475Cys) c.853C>T (p.Arg285Cys) c.87C>T c.1420C>T (p.Arg474Cys) c.1255C>T (p.Arg419Cys) c.1417C>T (p.Arg473Cys) c.1243C>T (p.Arg415Cys) n.1780C>T c.1297C>T (p.Arg433Cys) c.1240C>T (p.Arg414Cys) c.1195C>T (p.Arg399Cys) c.850C>T (p.Arg284Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.49257047G>C | CA402506561 | DYM | c.1423C>G (p.Arg475Gly) c.853C>G (p.Arg285Gly) c.87C>G c.1420C>G (p.Arg474Gly) c.1255C>G (p.Arg419Gly) c.1417C>G (p.Arg473Gly) c.1243C>G (p.Arg415Gly) n.1780C>G c.1297C>G (p.Arg433Gly) c.1240C>G (p.Arg414Gly) c.1195C>G (p.Arg399Gly) c.850C>G (p.Arg284Gly) | |
18 | g.49257047G= | CA2302132441 | DYM | c.1423C= (p.Arg475=) c.853C= (p.Arg285=) c.87C= c.1420C= (p.Arg474=) c.1255C= (p.Arg419=) c.1417C= (p.Arg473=) c.1243C= (p.Arg415=) n.1780C= c.1297C= (p.Arg433=) c.1240C= (p.Arg414=) c.1195C= (p.Arg399=) c.850C= (p.Arg284=) | |
18 | g.49257047G>T | CA402506562 | DYM | c.1423C>A (p.Arg475Ser) c.853C>A (p.Arg285Ser) c.87C>A c.1420C>A (p.Arg474Ser) c.1255C>A (p.Arg419Ser) c.1417C>A (p.Arg473Ser) c.1243C>A (p.Arg415Ser) n.1780C>A c.1297C>A (p.Arg433Ser) c.1240C>A (p.Arg414Ser) c.1195C>A (p.Arg399Ser) c.850C>A (p.Arg284Ser) | |
18 | g.49257048A>C | CA402506563 | DYM | c.1422T>G (p.Phe474Leu) c.852T>G (p.Phe284Leu) c.86T>G c.1419T>G (p.Phe473Leu) c.1254T>G (p.Phe418Leu) c.1416T>G (p.Phe472Leu) c.1242T>G (p.Phe414Leu) n.1779T>G c.1296T>G (p.Phe432Leu) c.1239T>G (p.Phe413Leu) c.1194T>G (p.Phe398Leu) c.849T>G (p.Phe283Leu) | |
18 | g.49257048A>G | CA503938860 | DYM | c.1422T>C (p.Phe474=) c.852T>C (p.Phe284=) c.86T>C c.1419T>C (p.Phe473=) c.1254T>C (p.Phe418=) c.1416T>C (p.Phe472=) c.1242T>C (p.Phe414=) n.1779T>C c.1296T>C (p.Phe432=) c.1239T>C (p.Phe413=) c.1194T>C (p.Phe398=) c.849T>C (p.Phe283=) | |
18 | g.49257048A>T | CA402506564 | DYM | c.1422T>A (p.Phe474Leu) c.852T>A (p.Phe284Leu) c.86T>A c.1419T>A (p.Phe473Leu) c.1254T>A (p.Phe418Leu) c.1416T>A (p.Phe472Leu) c.1242T>A (p.Phe414Leu) n.1779T>A c.1296T>A (p.Phe432Leu) c.1239T>A (p.Phe413Leu) c.1194T>A (p.Phe398Leu) c.849T>A (p.Phe283Leu) | |
18 | g.49257049A>C | CA402506565 | DYM | c.1421T>G (p.Phe474Cys) c.851T>G (p.Phe284Cys) c.85T>G c.1418T>G (p.Phe473Cys) c.1253T>G (p.Phe418Cys) c.1415T>G (p.Phe472Cys) c.1241T>G (p.Phe414Cys) n.1778T>G c.1295T>G (p.Phe432Cys) c.1238T>G (p.Phe413Cys) c.1193T>G (p.Phe398Cys) c.848T>G (p.Phe283Cys) | gnomAD v4 |
18 | g.49257049A>G | CA402506566 | DYM | c.1421T>C (p.Phe474Ser) c.851T>C (p.Phe284Ser) c.85T>C c.1418T>C (p.Phe473Ser) c.1253T>C (p.Phe418Ser) c.1415T>C (p.Phe472Ser) c.1241T>C (p.Phe414Ser) n.1778T>C c.1295T>C (p.Phe432Ser) c.1238T>C (p.Phe413Ser) c.1193T>C (p.Phe398Ser) c.848T>C (p.Phe283Ser) | |
18 | g.49257049A>T | CA402506567 | DYM | c.1421T>A (p.Phe474Tyr) c.851T>A (p.Phe284Tyr) c.85T>A c.1418T>A (p.Phe473Tyr) c.1253T>A (p.Phe418Tyr) c.1415T>A (p.Phe472Tyr) c.1241T>A (p.Phe414Tyr) n.1778T>A c.1295T>A (p.Phe432Tyr) c.1238T>A (p.Phe413Tyr) c.1193T>A (p.Phe398Tyr) c.848T>A (p.Phe283Tyr) | |
18 | g.49257050A>C | CA402506568 | DYM | c.1420T>G (p.Phe474Val) c.850T>G (p.Phe284Val) c.84T>G c.1417T>G (p.Phe473Val) c.1252T>G (p.Phe418Val) c.1414T>G (p.Phe472Val) c.1240T>G (p.Phe414Val) n.1777T>G c.1294T>G (p.Phe432Val) c.1237T>G (p.Phe413Val) c.1192T>G (p.Phe398Val) c.847T>G (p.Phe283Val) | |
18 | g.49257050A>G | CA402506570 | DYM | c.1420T>C (p.Phe474Leu) c.850T>C (p.Phe284Leu) c.84T>C c.1417T>C (p.Phe473Leu) c.1252T>C (p.Phe418Leu) c.1414T>C (p.Phe472Leu) c.1240T>C (p.Phe414Leu) n.1777T>C c.1294T>C (p.Phe432Leu) c.1237T>C (p.Phe413Leu) c.1192T>C (p.Phe398Leu) c.847T>C (p.Phe283Leu) | |
18 | g.49257050A>T | CA402506569 | DYM | c.1420T>A (p.Phe474Ile) c.850T>A (p.Phe284Ile) c.84T>A c.1417T>A (p.Phe473Ile) c.1252T>A (p.Phe418Ile) c.1414T>A (p.Phe472Ile) c.1240T>A (p.Phe414Ile) n.1777T>A c.1294T>A (p.Phe432Ile) c.1237T>A (p.Phe413Ile) c.1192T>A (p.Phe398Ile) c.847T>A (p.Phe283Ile) | |
18 | g.49257051C>A | CA402506571 | DYM | c.1419G>T (p.Gln473His) c.849G>T (p.Gln283His) c.83G>T c.1416G>T (p.Gln472His) c.1251G>T (p.Gln417His) c.1413G>T (p.Gln471His) c.1239G>T (p.Gln413His) n.1776G>T c.1293G>T (p.Gln431His) c.1236G>T (p.Gln412His) c.1191G>T (p.Gln397His) c.846G>T (p.Gln282His) | |
18 | g.49257051C= | CA2302132442 | DYM | c.1419G= (p.Gln473=) c.849G= (p.Gln283=) c.83G= c.1416G= (p.Gln472=) c.1251G= (p.Gln417=) c.1413G= (p.Gln471=) c.1239G= (p.Gln413=) n.1776G= c.1293G= (p.Gln431=) c.1236G= (p.Gln412=) c.1191G= (p.Gln397=) c.846G= (p.Gln282=) | |
18 | g.49257051C>G | CA402506572 | DYM | c.1419G>C (p.Gln473His) c.849G>C (p.Gln283His) c.83G>C c.1416G>C (p.Gln472His) c.1251G>C (p.Gln417His) c.1413G>C (p.Gln471His) c.1239G>C (p.Gln413His) n.1776G>C c.1293G>C (p.Gln431His) c.1236G>C (p.Gln412His) c.1191G>C (p.Gln397His) c.846G>C (p.Gln282His) | |
18 | g.49257051C>T | CA8958090 | DYM | c.1419G>A (p.Gln473=) c.849G>A (p.Gln283=) c.83G>A c.1416G>A (p.Gln472=) c.1251G>A (p.Gln417=) c.1413G>A (p.Gln471=) c.1239G>A (p.Gln413=) n.1776G>A c.1293G>A (p.Gln431=) c.1236G>A (p.Gln412=) c.1191G>A (p.Gln397=) c.846G>A (p.Gln282=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.49257051_49257053delinsCTG | CA2302132443 | DYM | c.1417_1419delinsCAG (p.Gln473=) c.847_849delinsCAG (p.Gln283=) c.81_83delinsCAG c.1414_1416delinsCAG (p.Gln472=) c.1249_1251delinsCAG (p.Gln417=) c.1411_1413delinsCAG (p.Gln471=) c.1237_1239delinsCAG (p.Gln413=) n.1774_1776delinsCAG c.1291_1293delinsCAG (p.Gln431=) c.1234_1236delinsCAG (p.Gln412=) c.1189_1191delinsCAG (p.Gln397=) c.844_846delinsCAG (p.Gln282=) | |
18 | g.49257052T>A | CA402506573 | DYM | c.1418A>T (p.Gln473Leu) c.848A>T (p.Gln283Leu) c.82A>T c.1415A>T (p.Gln472Leu) c.1250A>T (p.Gln417Leu) c.1412A>T (p.Gln471Leu) c.1238A>T (p.Gln413Leu) n.1775A>T c.1292A>T (p.Gln431Leu) c.1235A>T (p.Gln412Leu) c.1190A>T (p.Gln397Leu) c.845A>T (p.Gln282Leu) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.49257052T>C | CA402506574 | DYM | c.1418A>G (p.Gln473Arg) c.848A>G (p.Gln283Arg) c.82A>G c.1415A>G (p.Gln472Arg) c.1250A>G (p.Gln417Arg) c.1412A>G (p.Gln471Arg) c.1238A>G (p.Gln413Arg) n.1775A>G c.1292A>G (p.Gln431Arg) c.1235A>G (p.Gln412Arg) c.1190A>G (p.Gln397Arg) c.845A>G (p.Gln282Arg) | |
18 | g.49257052T>G | CA402506575 | DYM | c.1418A>C (p.Gln473Pro) c.848A>C (p.Gln283Pro) c.82A>C c.1415A>C (p.Gln472Pro) c.1250A>C (p.Gln417Pro) c.1412A>C (p.Gln471Pro) c.1238A>C (p.Gln413Pro) n.1775A>C c.1292A>C (p.Gln431Pro) c.1235A>C (p.Gln412Pro) c.1190A>C (p.Gln397Pro) c.845A>C (p.Gln282Pro) | |
18 | g.49257052T= | CA2302132445 | DYM | c.1418A= (p.Gln473=) c.848A= (p.Gln283=) c.82A= c.1415A= (p.Gln472=) c.1250A= (p.Gln417=) c.1412A= (p.Gln471=) c.1238A= (p.Gln413=) n.1775A= c.1292A= (p.Gln431=) c.1235A= (p.Gln412=) c.1190A= (p.Gln397=) c.845A= (p.Gln282=) | |
18 | g.49257054_49257055del | CA2302132444 | DYM | c.1417_1418del (p.Gln473ValfsTer?) c.1417_1418del (p.Gln473ValfsTer21) c.847_848del (p.Gln283ValfsTer21) c.81_82del c.1417_1418del (p.Gln473ValfsTer17) c.1414_1415del (p.Gln472ValfsTer21) c.1249_1250del (p.Gln417ValfsTer21) c.1414_1415del (p.Gln472ValfsTer?) c.1411_1412del (p.Gln471ValfsTer21) c.1237_1238del (p.Gln413ValfsTer21) n.1774_1775del c.1411_1412del (p.Gln471ValfsTer?) c.1291_1292del (p.Gln431ValfsTer?) c.1291_1292del (p.Gln431ValfsTer21) c.1234_1235del (p.Gln412ValfsTer21) c.1189_1190del (p.Gln397ValfsTer21) c.847_848del (p.Gln283ValfsTer?) c.844_845del (p.Gln282ValfsTer21) | dbSNP |
18 | g.49257053G>A | CA402506576 | DYM | c.1417C>T (p.Gln473Ter) c.847C>T (p.Gln283Ter) c.81C>T c.1414C>T (p.Gln472Ter) c.1249C>T (p.Gln417Ter) c.1411C>T (p.Gln471Ter) c.1237C>T (p.Gln413Ter) n.1774C>T c.1291C>T (p.Gln431Ter) c.1234C>T (p.Gln412Ter) c.1189C>T (p.Gln397Ter) c.844C>T (p.Gln282Ter) | dbSNP |
18 | g.49257053G>C | CA402506577 | DYM | c.1417C>G (p.Gln473Glu) c.847C>G (p.Gln283Glu) c.81C>G c.1414C>G (p.Gln472Glu) c.1249C>G (p.Gln417Glu) c.1411C>G (p.Gln471Glu) c.1237C>G (p.Gln413Glu) n.1774C>G c.1291C>G (p.Gln431Glu) c.1234C>G (p.Gln412Glu) c.1189C>G (p.Gln397Glu) c.844C>G (p.Gln282Glu) | |
18 | g.49257053G= | CA2302132446 | DYM | c.1417C= (p.Gln473=) c.847C= (p.Gln283=) c.81C= c.1414C= (p.Gln472=) c.1249C= (p.Gln417=) c.1411C= (p.Gln471=) c.1237C= (p.Gln413=) n.1774C= c.1291C= (p.Gln431=) c.1234C= (p.Gln412=) c.1189C= (p.Gln397=) c.844C= (p.Gln282=) | |
18 | g.49257053G>T | CA402506578 | DYM | c.1417C>A (p.Gln473Lys) c.847C>A (p.Gln283Lys) c.81C>A c.1414C>A (p.Gln472Lys) c.1249C>A (p.Gln417Lys) c.1411C>A (p.Gln471Lys) c.1237C>A (p.Gln413Lys) n.1774C>A c.1291C>A (p.Gln431Lys) c.1234C>A (p.Gln412Lys) c.1189C>A (p.Gln397Lys) c.844C>A (p.Gln282Lys) | |
18 | g.49257054T>A | CA503938861 | DYM | c.1416A>T (p.Ala472=) c.846A>T (p.Ala282=) c.80A>T c.1413A>T (p.Ala471=) c.1248A>T (p.Ala416=) c.1410A>T (p.Ala470=) c.1236A>T (p.Ala412=) n.1773A>T c.1290A>T (p.Ala430=) c.1233A>T (p.Ala411=) c.1188A>T (p.Ala396=) c.843A>T (p.Ala281=) | |
18 | g.49257054T>C | CA503938862 | DYM | c.1416A>G (p.Ala472=) c.846A>G (p.Ala282=) c.80A>G c.1413A>G (p.Ala471=) c.1248A>G (p.Ala416=) c.1410A>G (p.Ala470=) c.1236A>G (p.Ala412=) n.1773A>G c.1290A>G (p.Ala430=) c.1233A>G (p.Ala411=) c.1188A>G (p.Ala396=) c.843A>G (p.Ala281=) | |
18 | g.49257054T>G | CA503938863 | DYM | c.1416A>C (p.Ala472=) c.846A>C (p.Ala282=) c.80A>C c.1413A>C (p.Ala471=) c.1248A>C (p.Ala416=) c.1410A>C (p.Ala470=) c.1236A>C (p.Ala412=) n.1773A>C c.1290A>C (p.Ala430=) c.1233A>C (p.Ala411=) c.1188A>C (p.Ala396=) c.843A>C (p.Ala281=) | |
18 | g.49257055G>A | CA8958091 | DYM | c.1415C>T (p.Ala472Val) c.845C>T (p.Ala282Val) c.79C>T c.1412C>T (p.Ala471Val) c.1247C>T (p.Ala416Val) c.1409C>T (p.Ala470Val) c.1235C>T (p.Ala412Val) n.1772C>T c.1289C>T (p.Ala430Val) c.1232C>T (p.Ala411Val) c.1187C>T (p.Ala396Val) c.842C>T (p.Ala281Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49257055G>C | CA402506579 | DYM | c.1415C>G (p.Ala472Gly) c.845C>G (p.Ala282Gly) c.79C>G c.1412C>G (p.Ala471Gly) c.1247C>G (p.Ala416Gly) c.1409C>G (p.Ala470Gly) c.1235C>G (p.Ala412Gly) n.1772C>G c.1289C>G (p.Ala430Gly) c.1232C>G (p.Ala411Gly) c.1187C>G (p.Ala396Gly) c.842C>G (p.Ala281Gly) | |
18 | g.49257055G= | CA2302132447 | DYM | c.1415C= (p.Ala472=) c.845C= (p.Ala282=) c.79C= c.1412C= (p.Ala471=) c.1247C= (p.Ala416=) c.1409C= (p.Ala470=) c.1235C= (p.Ala412=) n.1772C= c.1289C= (p.Ala430=) c.1232C= (p.Ala411=) c.1187C= (p.Ala396=) c.842C= (p.Ala281=) | |
18 | g.49257055G>T | CA402506580 | DYM | c.1415C>A (p.Ala472Glu) c.845C>A (p.Ala282Glu) c.79C>A c.1412C>A (p.Ala471Glu) c.1247C>A (p.Ala416Glu) c.1409C>A (p.Ala470Glu) c.1235C>A (p.Ala412Glu) n.1772C>A c.1289C>A (p.Ala430Glu) c.1232C>A (p.Ala411Glu) c.1187C>A (p.Ala396Glu) c.842C>A (p.Ala281Glu) | |
18 | g.49257056C>A | CA402506583 | DYM | c.1414G>T (p.Ala472Ser) c.844G>T (p.Ala282Ser) c.78G>T c.1411G>T (p.Ala471Ser) c.1246G>T (p.Ala416Ser) c.1408G>T (p.Ala470Ser) c.1234G>T (p.Ala412Ser) n.1771G>T c.1288G>T (p.Ala430Ser) c.1231G>T (p.Ala411Ser) c.1186G>T (p.Ala396Ser) c.841G>T (p.Ala281Ser) | |
18 | g.49257056C>G | CA402506582 | DYM | c.1414G>C (p.Ala472Pro) c.844G>C (p.Ala282Pro) c.78G>C c.1411G>C (p.Ala471Pro) c.1246G>C (p.Ala416Pro) c.1408G>C (p.Ala470Pro) c.1234G>C (p.Ala412Pro) n.1771G>C c.1288G>C (p.Ala430Pro) c.1231G>C (p.Ala411Pro) c.1186G>C (p.Ala396Pro) c.841G>C (p.Ala281Pro) | |
18 | g.49257056C>T | CA402506581 | DYM | c.1414G>A (p.Ala472Thr) c.844G>A (p.Ala282Thr) c.78G>A c.1411G>A (p.Ala471Thr) c.1246G>A (p.Ala416Thr) c.1408G>A (p.Ala470Thr) c.1234G>A (p.Ala412Thr) n.1771G>A c.1288G>A (p.Ala430Thr) c.1231G>A (p.Ala411Thr) c.1186G>A (p.Ala396Thr) c.841G>A (p.Ala281Thr) | |
18 | g.49257057C>A | CA503938864 | DYM | c.1413G>T (p.Ser471=) c.843G>T (p.Ser281=) c.77G>T c.1410G>T (p.Ser470=) c.1245G>T (p.Ser415=) c.1407G>T (p.Ser469=) c.1233G>T (p.Ser411=) n.1770G>T c.1287G>T (p.Ser429=) c.1230G>T (p.Ser410=) c.1185G>T (p.Ser395=) c.840G>T (p.Ser280=) | |
18 | g.49257057C= | CA2302132448 | DYM | c.1413G= (p.Ser471=) c.843G= (p.Ser281=) c.77G= c.1410G= (p.Ser470=) c.1245G= (p.Ser415=) c.1407G= (p.Ser469=) c.1233G= (p.Ser411=) n.1770G= c.1287G= (p.Ser429=) c.1230G= (p.Ser410=) c.1185G= (p.Ser395=) c.840G= (p.Ser280=) | |
18 | g.49257057C>G | CA503938865 | DYM | c.1413G>C (p.Ser471=) c.843G>C (p.Ser281=) c.77G>C c.1410G>C (p.Ser470=) c.1245G>C (p.Ser415=) c.1407G>C (p.Ser469=) c.1233G>C (p.Ser411=) n.1770G>C c.1287G>C (p.Ser429=) c.1230G>C (p.Ser410=) c.1185G>C (p.Ser395=) c.840G>C (p.Ser280=) | |
18 | g.49257057C>T | CA8958092 | DYM | c.1413G>A (p.Ser471=) c.843G>A (p.Ser281=) c.77G>A c.1410G>A (p.Ser470=) c.1245G>A (p.Ser415=) c.1407G>A (p.Ser469=) c.1233G>A (p.Ser411=) n.1770G>A c.1287G>A (p.Ser429=) c.1230G>A (p.Ser410=) c.1185G>A (p.Ser395=) c.840G>A (p.Ser280=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.49257058G>A | CA8958093 | DYM | c.1412C>T (p.Ser471Leu) c.842C>T (p.Ser281Leu) c.76C>T c.1409C>T (p.Ser470Leu) c.1244C>T (p.Ser415Leu) c.1406C>T (p.Ser469Leu) c.1232C>T (p.Ser411Leu) n.1769C>T c.1286C>T (p.Ser429Leu) c.1229C>T (p.Ser410Leu) c.1184C>T (p.Ser395Leu) c.839C>T (p.Ser280Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.49257058G>C | CA402506584 | DYM | c.1412C>G (p.Ser471Trp) c.842C>G (p.Ser281Trp) c.76C>G c.1409C>G (p.Ser470Trp) c.1244C>G (p.Ser415Trp) c.1406C>G (p.Ser469Trp) c.1232C>G (p.Ser411Trp) n.1769C>G c.1286C>G (p.Ser429Trp) c.1229C>G (p.Ser410Trp) c.1184C>G (p.Ser395Trp) c.839C>G (p.Ser280Trp) | |
18 | g.49257058G= | CA2302132449 | DYM | c.1412C= (p.Ser471=) c.842C= (p.Ser281=) c.76C= c.1409C= (p.Ser470=) c.1244C= (p.Ser415=) c.1406C= (p.Ser469=) c.1232C= (p.Ser411=) n.1769C= c.1286C= (p.Ser429=) c.1229C= (p.Ser410=) c.1184C= (p.Ser395=) c.839C= (p.Ser280=) | |
18 | g.49257058G>T | CA402506585 | DYM | c.1412C>A (p.Ser471Ter) c.842C>A (p.Ser281Ter) c.76C>A c.1409C>A (p.Ser470Ter) c.1244C>A (p.Ser415Ter) c.1406C>A (p.Ser469Ter) c.1232C>A (p.Ser411Ter) n.1769C>A c.1286C>A (p.Ser429Ter) c.1229C>A (p.Ser410Ter) c.1184C>A (p.Ser395Ter) c.839C>A (p.Ser280Ter) | gnomAD v4 |
18 | g.49257059A>C | CA402506586 | DYM | c.1411T>G (p.Ser471Ala) c.841T>G (p.Ser281Ala) c.75T>G c.1408T>G (p.Ser470Ala) c.1243T>G (p.Ser415Ala) c.1405T>G (p.Ser469Ala) c.1231T>G (p.Ser411Ala) n.1768T>G c.1285T>G (p.Ser429Ala) c.1228T>G (p.Ser410Ala) c.1183T>G (p.Ser395Ala) c.838T>G (p.Ser280Ala) | gnomAD v4 |
18 | g.49257059A>G | CA402506588 | DYM | c.1411T>C (p.Ser471Pro) c.841T>C (p.Ser281Pro) c.75T>C c.1408T>C (p.Ser470Pro) c.1243T>C (p.Ser415Pro) c.1405T>C (p.Ser469Pro) c.1231T>C (p.Ser411Pro) n.1768T>C c.1285T>C (p.Ser429Pro) c.1228T>C (p.Ser410Pro) c.1183T>C (p.Ser395Pro) c.838T>C (p.Ser280Pro) | |
18 | g.49257059A>T | CA402506587 | DYM | c.1411T>A (p.Ser471Thr) c.841T>A (p.Ser281Thr) c.75T>A c.1408T>A (p.Ser470Thr) c.1243T>A (p.Ser415Thr) c.1405T>A (p.Ser469Thr) c.1231T>A (p.Ser411Thr) n.1768T>A c.1285T>A (p.Ser429Thr) c.1228T>A (p.Ser410Thr) c.1183T>A (p.Ser395Thr) c.838T>A (p.Ser280Thr) | |
18 | g.49257060C>A | CA402506589 | DYM | c.1410G>T (p.Met470Ile) c.840G>T (p.Met280Ile) c.74G>T c.1407G>T (p.Met469Ile) c.1242G>T (p.Met414Ile) c.1404G>T (p.Met468Ile) c.1230G>T (p.Met410Ile) n.1767G>T c.1284G>T (p.Met428Ile) c.1227G>T (p.Met409Ile) c.1182G>T (p.Met394Ile) c.837G>T (p.Met279Ile) | |
18 | g.49257060C>G | CA402506591 | DYM | c.1410G>C (p.Met470Ile) c.840G>C (p.Met280Ile) c.74G>C c.1407G>C (p.Met469Ile) c.1242G>C (p.Met414Ile) c.1404G>C (p.Met468Ile) c.1230G>C (p.Met410Ile) n.1767G>C c.1284G>C (p.Met428Ile) c.1227G>C (p.Met409Ile) c.1182G>C (p.Met394Ile) c.837G>C (p.Met279Ile) | |
18 | g.49257060C>T | CA402506590 | DYM | c.1410G>A (p.Met470Ile) c.840G>A (p.Met280Ile) c.74G>A c.1407G>A (p.Met469Ile) c.1242G>A (p.Met414Ile) c.1404G>A (p.Met468Ile) c.1230G>A (p.Met410Ile) n.1767G>A c.1284G>A (p.Met428Ile) c.1227G>A (p.Met409Ile) c.1182G>A (p.Met394Ile) c.837G>A (p.Met279Ile) | |
18 | g.49257061A= | CA2302132450 | DYM | c.1409T= (p.Met470=) c.839T= (p.Met280=) c.73T= c.1406T= (p.Met469=) c.1241T= (p.Met414=) c.1403T= (p.Met468=) c.1229T= (p.Met410=) n.1766T= c.1283T= (p.Met428=) c.1226T= (p.Met409=) c.1181T= (p.Met394=) c.836T= (p.Met279=) | |
18 | g.49257061A>C | CA402506592 | DYM | c.1409T>G (p.Met470Arg) c.839T>G (p.Met280Arg) c.73T>G c.1406T>G (p.Met469Arg) c.1241T>G (p.Met414Arg) c.1403T>G (p.Met468Arg) c.1229T>G (p.Met410Arg) n.1766T>G c.1283T>G (p.Met428Arg) c.1226T>G (p.Met409Arg) c.1181T>G (p.Met394Arg) c.836T>G (p.Met279Arg) | |
18 | g.49257061A>G | CA300376754 | DYM | c.1409T>C (p.Met470Thr) c.839T>C (p.Met280Thr) c.73T>C c.1406T>C (p.Met469Thr) c.1241T>C (p.Met414Thr) c.1403T>C (p.Met468Thr) c.1229T>C (p.Met410Thr) n.1766T>C c.1283T>C (p.Met428Thr) c.1226T>C (p.Met409Thr) c.1181T>C (p.Met394Thr) c.836T>C (p.Met279Thr) | dbSNP |
18 | g.49257061A>T | CA402506593 | DYM | c.1409T>A (p.Met470Lys) c.839T>A (p.Met280Lys) c.73T>A c.1406T>A (p.Met469Lys) c.1241T>A (p.Met414Lys) c.1403T>A (p.Met468Lys) c.1229T>A (p.Met410Lys) n.1766T>A c.1283T>A (p.Met428Lys) c.1226T>A (p.Met409Lys) c.1181T>A (p.Met394Lys) c.836T>A (p.Met279Lys) | |
18 | g.49257062del | CA2556369857 | DYM | c.1408del (p.Met470CysfsTer?) c.838del (p.Met280CysfsTer?) c.72del c.1408del (p.Met470CysfsTer19) c.1405del (p.Met469CysfsTer?) c.1240del (p.Met414CysfsTer?) c.1402del (p.Met468CysfsTer?) c.1228del (p.Met410CysfsTer?) n.1765del c.1282del (p.Met428CysfsTer?) c.1225del (p.Met409CysfsTer?) c.1180del (p.Met394CysfsTer?) c.835del (p.Met279CysfsTer?) | gnomAD v4 |
18 | g.49257062T>A | CA402506594 | DYM | c.1408A>T (p.Met470Leu) c.838A>T (p.Met280Leu) c.72A>T c.1405A>T (p.Met469Leu) c.1240A>T (p.Met414Leu) c.1402A>T (p.Met468Leu) c.1228A>T (p.Met410Leu) n.1765A>T c.1282A>T (p.Met428Leu) c.1225A>T (p.Met409Leu) c.1180A>T (p.Met394Leu) c.835A>T (p.Met279Leu) | |
18 | g.49257062T>C | CA402506595 | DYM | c.1408A>G (p.Met470Val) c.838A>G (p.Met280Val) c.72A>G c.1405A>G (p.Met469Val) c.1240A>G (p.Met414Val) c.1402A>G (p.Met468Val) c.1228A>G (p.Met410Val) n.1765A>G c.1282A>G (p.Met428Val) c.1225A>G (p.Met409Val) c.1180A>G (p.Met394Val) c.835A>G (p.Met279Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49257062T>G | CA402506596 | DYM | c.1408A>C (p.Met470Leu) c.838A>C (p.Met280Leu) c.72A>C c.1405A>C (p.Met469Leu) c.1240A>C (p.Met414Leu) c.1402A>C (p.Met468Leu) c.1228A>C (p.Met410Leu) n.1765A>C c.1282A>C (p.Met428Leu) c.1225A>C (p.Met409Leu) c.1180A>C (p.Met394Leu) c.835A>C (p.Met279Leu) | |
18 | g.49257062T= | CA2302132451 | DYM | c.1408A= (p.Met470=) c.838A= (p.Met280=) c.72A= c.1405A= (p.Met469=) c.1240A= (p.Met414=) c.1402A= (p.Met468=) c.1228A= (p.Met410=) n.1765A= c.1282A= (p.Met428=) c.1225A= (p.Met409=) c.1180A= (p.Met394=) c.835A= (p.Met279=) | |
18 | g.49257063A>C | CA402506597 | DYM | c.1407T>G (p.Asn469Lys) c.837T>G (p.Asn279Lys) c.71T>G c.1404T>G (p.Asn468Lys) c.1239T>G (p.Asn413Lys) c.1401T>G (p.Asn467Lys) c.1227T>G (p.Asn409Lys) n.1764T>G c.1281T>G (p.Asn427Lys) c.1224T>G (p.Asn408Lys) c.1179T>G (p.Asn393Lys) c.834T>G (p.Asn278Lys) | |
18 | g.49257063A>G | CA503938866 | DYM | c.1407T>C (p.Asn469=) c.837T>C (p.Asn279=) c.71T>C c.1404T>C (p.Asn468=) c.1239T>C (p.Asn413=) c.1401T>C (p.Asn467=) c.1227T>C (p.Asn409=) n.1764T>C c.1281T>C (p.Asn427=) c.1224T>C (p.Asn408=) c.1179T>C (p.Asn393=) c.834T>C (p.Asn278=) | gnomAD v4 |
18 | g.49257063A>T | CA402506598 | DYM | c.1407T>A (p.Asn469Lys) c.837T>A (p.Asn279Lys) c.71T>A c.1404T>A (p.Asn468Lys) c.1239T>A (p.Asn413Lys) c.1401T>A (p.Asn467Lys) c.1227T>A (p.Asn409Lys) n.1764T>A c.1281T>A (p.Asn427Lys) c.1224T>A (p.Asn408Lys) c.1179T>A (p.Asn393Lys) c.834T>A (p.Asn278Lys) | |
18 | g.49257064T>A | CA402506599 | DYM | c.1406A>T (p.Asn469Ile) c.836A>T (p.Asn279Ile) c.70A>T c.1403A>T (p.Asn468Ile) c.1238A>T (p.Asn413Ile) c.1400A>T (p.Asn467Ile) c.1226A>T (p.Asn409Ile) n.1763A>T c.1280A>T (p.Asn427Ile) c.1223A>T (p.Asn408Ile) c.1178A>T (p.Asn393Ile) c.833A>T (p.Asn278Ile) | |
18 | g.49257064T>C | CA402506600 | DYM | c.1406A>G (p.Asn469Ser) c.836A>G (p.Asn279Ser) c.70A>G c.1403A>G (p.Asn468Ser) c.1238A>G (p.Asn413Ser) c.1400A>G (p.Asn467Ser) c.1226A>G (p.Asn409Ser) n.1763A>G c.1280A>G (p.Asn427Ser) c.1223A>G (p.Asn408Ser) c.1178A>G (p.Asn393Ser) c.833A>G (p.Asn278Ser) | gnomAD v4 |
18 | g.49257064T>G | CA402506601 | DYM | c.1406A>C (p.Asn469Thr) c.836A>C (p.Asn279Thr) c.70A>C c.1403A>C (p.Asn468Thr) c.1238A>C (p.Asn413Thr) c.1400A>C (p.Asn467Thr) c.1226A>C (p.Asn409Thr) n.1763A>C c.1280A>C (p.Asn427Thr) c.1223A>C (p.Asn408Thr) c.1178A>C (p.Asn393Thr) c.833A>C (p.Asn278Thr) | |
18 | g.49257065T>A | CA116049 | DYM | c.1405A>T (p.Asn469Tyr) c.835A>T (p.Asn279Tyr) c.69A>T c.1402A>T (p.Asn468Tyr) c.1237A>T (p.Asn413Tyr) c.1399A>T (p.Asn467Tyr) c.1225A>T (p.Asn409Tyr) n.1762A>T c.1279A>T (p.Asn427Tyr) c.1222A>T (p.Asn408Tyr) c.1177A>T (p.Asn393Tyr) c.832A>T (p.Asn278Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.49257065T>C | CA402506602 | DYM | c.1405A>G (p.Asn469Asp) c.835A>G (p.Asn279Asp) c.69A>G c.1402A>G (p.Asn468Asp) c.1237A>G (p.Asn413Asp) c.1399A>G (p.Asn467Asp) c.1225A>G (p.Asn409Asp) n.1762A>G c.1279A>G (p.Asn427Asp) c.1222A>G (p.Asn408Asp) c.1177A>G (p.Asn393Asp) c.832A>G (p.Asn278Asp) | |
18 | g.49257065T>G | CA402506603 | DYM | c.1405A>C (p.Asn469His) c.835A>C (p.Asn279His) c.69A>C c.1402A>C (p.Asn468His) c.1237A>C (p.Asn413His) c.1399A>C (p.Asn467His) c.1225A>C (p.Asn409His) n.1762A>C c.1279A>C (p.Asn427His) c.1222A>C (p.Asn408His) c.1177A>C (p.Asn393His) c.832A>C (p.Asn278His) | |
18 | g.49257065T= | CA2302132452 | DYM | c.1405A= (p.Asn469=) c.835A= (p.Asn279=) c.69A= c.1402A= (p.Asn468=) c.1237A= (p.Asn413=) c.1399A= (p.Asn467=) c.1225A= (p.Asn409=) n.1762A= c.1279A= (p.Asn427=) c.1222A= (p.Asn408=) c.1177A= (p.Asn393=) c.832A= (p.Asn278=) | |
18 | g.49257066T>A | CA503938867 | DYM | c.1404A>T (p.Ala468=) c.834A>T (p.Ala278=) c.68A>T c.1401A>T (p.Ala467=) c.1236A>T (p.Ala412=) c.1398A>T (p.Ala466=) c.1224A>T (p.Ala408=) n.1761A>T c.1278A>T (p.Ala426=) c.1221A>T (p.Ala407=) c.1176A>T (p.Ala392=) c.831A>T (p.Ala277=) | |
18 | g.49257066T>C | CA503938868 | DYM | c.1404A>G (p.Ala468=) c.834A>G (p.Ala278=) c.68A>G c.1401A>G (p.Ala467=) c.1236A>G (p.Ala412=) c.1398A>G (p.Ala466=) c.1224A>G (p.Ala408=) n.1761A>G c.1278A>G (p.Ala426=) c.1221A>G (p.Ala407=) c.1176A>G (p.Ala392=) c.831A>G (p.Ala277=) | |
18 | g.49257066T>G | CA503938869 | DYM | c.1404A>C (p.Ala468=) c.834A>C (p.Ala278=) c.68A>C c.1401A>C (p.Ala467=) c.1236A>C (p.Ala412=) c.1398A>C (p.Ala466=) c.1224A>C (p.Ala408=) n.1761A>C c.1278A>C (p.Ala426=) c.1221A>C (p.Ala407=) c.1176A>C (p.Ala392=) c.831A>C (p.Ala277=) | gnomAD v4 |
18 | g.49257067G>A | CA402506606 | DYM | c.1403C>T (p.Ala468Val) c.833C>T (p.Ala278Val) c.67C>T c.1400C>T (p.Ala467Val) c.1235C>T (p.Ala412Val) c.1397C>T (p.Ala466Val) c.1223C>T (p.Ala408Val) n.1760C>T c.1277C>T (p.Ala426Val) c.1220C>T (p.Ala407Val) c.1175C>T (p.Ala392Val) c.830C>T (p.Ala277Val) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.49257067G>C | CA402506604 | DYM | c.1403C>G (p.Ala468Gly) c.833C>G (p.Ala278Gly) c.67C>G c.1400C>G (p.Ala467Gly) c.1235C>G (p.Ala412Gly) c.1397C>G (p.Ala466Gly) c.1223C>G (p.Ala408Gly) n.1760C>G c.1277C>G (p.Ala426Gly) c.1220C>G (p.Ala407Gly) c.1175C>G (p.Ala392Gly) c.830C>G (p.Ala277Gly) | |
18 | g.49257067G= | CA2302132453 | DYM | c.1403C= (p.Ala468=) c.833C= (p.Ala278=) c.67C= c.1400C= (p.Ala467=) c.1235C= (p.Ala412=) c.1397C= (p.Ala466=) c.1223C= (p.Ala408=) n.1760C= c.1277C= (p.Ala426=) c.1220C= (p.Ala407=) c.1175C= (p.Ala392=) c.830C= (p.Ala277=) | |
18 | g.49257067G>T | CA402506605 | DYM | c.1403C>A (p.Ala468Glu) c.833C>A (p.Ala278Glu) c.67C>A c.1400C>A (p.Ala467Glu) c.1235C>A (p.Ala412Glu) c.1397C>A (p.Ala466Glu) c.1223C>A (p.Ala408Glu) n.1760C>A c.1277C>A (p.Ala426Glu) c.1220C>A (p.Ala407Glu) c.1175C>A (p.Ala392Glu) c.830C>A (p.Ala277Glu) | |
18 | g.49257068C>A | CA402506607 | DYM | c.1402G>T (p.Ala468Ser) c.832G>T (p.Ala278Ser) c.66G>T c.1399G>T (p.Ala467Ser) c.1234G>T (p.Ala412Ser) c.1396G>T (p.Ala466Ser) c.1222G>T (p.Ala408Ser) n.1759G>T c.1276G>T (p.Ala426Ser) c.1219G>T (p.Ala407Ser) c.1174G>T (p.Ala392Ser) c.829G>T (p.Ala277Ser) | |
18 | g.49257068C>G | CA402506608 | DYM | c.1402G>C (p.Ala468Pro) c.832G>C (p.Ala278Pro) c.66G>C c.1399G>C (p.Ala467Pro) c.1234G>C (p.Ala412Pro) c.1396G>C (p.Ala466Pro) c.1222G>C (p.Ala408Pro) n.1759G>C c.1276G>C (p.Ala426Pro) c.1219G>C (p.Ala407Pro) c.1174G>C (p.Ala392Pro) c.829G>C (p.Ala277Pro) | |
18 | g.49257068C>T | CA402506609 | DYM | c.1402G>A (p.Ala468Thr) c.832G>A (p.Ala278Thr) c.66G>A c.1399G>A (p.Ala467Thr) c.1234G>A (p.Ala412Thr) c.1396G>A (p.Ala466Thr) c.1222G>A (p.Ala408Thr) n.1759G>A c.1276G>A (p.Ala426Thr) c.1219G>A (p.Ala407Thr) c.1174G>A (p.Ala392Thr) c.829G>A (p.Ala277Thr) | |
18 | g.49257069T>A | CA402506610 | DYM | c.1401A>T (p.Leu467Phe) c.831A>T (p.Leu277Phe) c.65A>T c.1398A>T (p.Leu466Phe) c.1233A>T (p.Leu411Phe) c.1395A>T (p.Leu465Phe) c.1221A>T (p.Leu407Phe) n.1758A>T c.1275A>T (p.Leu425Phe) c.1218A>T (p.Leu406Phe) c.1173A>T (p.Leu391Phe) c.828A>T (p.Leu276Phe) | |
18 | g.49257069T>C | CA503938870 | DYM | c.1401A>G (p.Leu467=) c.831A>G (p.Leu277=) c.65A>G c.1398A>G (p.Leu466=) c.1233A>G (p.Leu411=) c.1395A>G (p.Leu465=) c.1221A>G (p.Leu407=) n.1758A>G c.1275A>G (p.Leu425=) c.1218A>G (p.Leu406=) c.1173A>G (p.Leu391=) c.828A>G (p.Leu276=) | dbSNP |
18 | g.49257069T>G | CA402506611 | DYM | c.1401A>C (p.Leu467Phe) c.831A>C (p.Leu277Phe) c.65A>C c.1398A>C (p.Leu466Phe) c.1233A>C (p.Leu411Phe) c.1395A>C (p.Leu465Phe) c.1221A>C (p.Leu407Phe) n.1758A>C c.1275A>C (p.Leu425Phe) c.1218A>C (p.Leu406Phe) c.1173A>C (p.Leu391Phe) c.828A>C (p.Leu276Phe) | |
18 | g.49257069T= | CA2302132454 | DYM | c.1401A= (p.Leu467=) c.831A= (p.Leu277=) c.65A= c.1398A= (p.Leu466=) c.1233A= (p.Leu411=) c.1395A= (p.Leu465=) c.1221A= (p.Leu407=) n.1758A= c.1275A= (p.Leu425=) c.1218A= (p.Leu406=) c.1173A= (p.Leu391=) c.828A= (p.Leu276=) | |
18 | g.49257070A>C | CA402506612 | DYM | c.1400T>G (p.Leu467Ter) c.830T>G (p.Leu277Ter) c.64T>G c.1397T>G (p.Leu466Ter) c.1232T>G (p.Leu411Ter) c.1394T>G (p.Leu465Ter) c.1220T>G (p.Leu407Ter) n.1757T>G c.1274T>G (p.Leu425Ter) c.1217T>G (p.Leu406Ter) c.1172T>G (p.Leu391Ter) c.827T>G (p.Leu276Ter) | |
18 | g.49257070A>G | CA402506613 | DYM | c.1400T>C (p.Leu467Ser) c.830T>C (p.Leu277Ser) c.64T>C c.1397T>C (p.Leu466Ser) c.1232T>C (p.Leu411Ser) c.1394T>C (p.Leu465Ser) c.1220T>C (p.Leu407Ser) n.1757T>C c.1274T>C (p.Leu425Ser) c.1217T>C (p.Leu406Ser) c.1172T>C (p.Leu391Ser) c.827T>C (p.Leu276Ser) | gnomAD v4 |
18 | g.49257070A>T | CA402506614 | DYM | c.1400T>A (p.Leu467Ter) c.830T>A (p.Leu277Ter) c.64T>A c.1397T>A (p.Leu466Ter) c.1232T>A (p.Leu411Ter) c.1394T>A (p.Leu465Ter) c.1220T>A (p.Leu407Ter) n.1757T>A c.1274T>A (p.Leu425Ter) c.1217T>A (p.Leu406Ter) c.1172T>A (p.Leu391Ter) c.827T>A (p.Leu276Ter) | |
18 | g.49257071A>C | CA402506615 | DYM | c.1399T>G (p.Leu467Val) c.829T>G (p.Leu277Val) c.63T>G c.1396T>G (p.Leu466Val) c.1231T>G (p.Leu411Val) c.1393T>G (p.Leu465Val) c.1219T>G (p.Leu407Val) n.1756T>G c.1273T>G (p.Leu425Val) c.1216T>G (p.Leu406Val) c.1171T>G (p.Leu391Val) c.826T>G (p.Leu276Val) | |
18 | g.49257071A>G | CA503938871 | DYM | c.1399T>C (p.Leu467=) c.829T>C (p.Leu277=) c.63T>C c.1396T>C (p.Leu466=) c.1231T>C (p.Leu411=) c.1393T>C (p.Leu465=) c.1219T>C (p.Leu407=) n.1756T>C c.1273T>C (p.Leu425=) c.1216T>C (p.Leu406=) c.1171T>C (p.Leu391=) c.826T>C (p.Leu276=) | |
18 | g.49257071A>T | CA402506616 | DYM | c.1399T>A (p.Leu467Ile) c.829T>A (p.Leu277Ile) c.63T>A c.1396T>A (p.Leu466Ile) c.1231T>A (p.Leu411Ile) c.1393T>A (p.Leu465Ile) c.1219T>A (p.Leu407Ile) n.1756T>A c.1273T>A (p.Leu425Ile) c.1216T>A (p.Leu406Ile) c.1171T>A (p.Leu391Ile) c.826T>A (p.Leu276Ile) | |
18 | g.49257072A>C | CA503938872 | DYM | c.1398T>G (p.Ala466=) c.828T>G (p.Ala276=) c.62T>G c.1395T>G (p.Ala465=) c.1230T>G (p.Ala410=) c.1392T>G (p.Ala464=) c.1218T>G (p.Ala406=) n.1755T>G c.1272T>G (p.Ala424=) c.1215T>G (p.Ala405=) c.1170T>G (p.Ala390=) c.825T>G (p.Ala275=) | |
18 | g.49257072A>G | CA503938873 | DYM | c.1398T>C (p.Ala466=) c.828T>C (p.Ala276=) c.62T>C c.1395T>C (p.Ala465=) c.1230T>C (p.Ala410=) c.1392T>C (p.Ala464=) c.1218T>C (p.Ala406=) n.1755T>C c.1272T>C (p.Ala424=) c.1215T>C (p.Ala405=) c.1170T>C (p.Ala390=) c.825T>C (p.Ala275=) | gnomAD v4 |
18 | g.49257072A>T | CA503938874 | DYM | c.1398T>A (p.Ala466=) c.828T>A (p.Ala276=) c.62T>A c.1395T>A (p.Ala465=) c.1230T>A (p.Ala410=) c.1392T>A (p.Ala464=) c.1218T>A (p.Ala406=) n.1755T>A c.1272T>A (p.Ala424=) c.1215T>A (p.Ala405=) c.1170T>A (p.Ala390=) c.825T>A (p.Ala275=) | |
18 | g.49257073G>A | CA402506618 | DYM | c.1397C>T (p.Ala466Val) c.827C>T (p.Ala276Val) c.61C>T c.1394C>T (p.Ala465Val) c.1229C>T (p.Ala410Val) c.1391C>T (p.Ala464Val) c.1217C>T (p.Ala406Val) n.1754C>T c.1271C>T (p.Ala424Val) c.1214C>T (p.Ala405Val) c.1169C>T (p.Ala390Val) c.824C>T (p.Ala275Val) | |
18 | g.49257073G>C | CA402506619 | DYM | c.1397C>G (p.Ala466Gly) c.827C>G (p.Ala276Gly) c.61C>G c.1394C>G (p.Ala465Gly) c.1229C>G (p.Ala410Gly) c.1391C>G (p.Ala464Gly) c.1217C>G (p.Ala406Gly) n.1754C>G c.1271C>G (p.Ala424Gly) c.1214C>G (p.Ala405Gly) c.1169C>G (p.Ala390Gly) c.824C>G (p.Ala275Gly) | |
18 | g.49257073G>T | CA402506617 | DYM | c.1397C>A (p.Ala466Asp) c.827C>A (p.Ala276Asp) c.61C>A c.1394C>A (p.Ala465Asp) c.1229C>A (p.Ala410Asp) c.1391C>A (p.Ala464Asp) c.1217C>A (p.Ala406Asp) n.1754C>A c.1271C>A (p.Ala424Asp) c.1214C>A (p.Ala405Asp) c.1169C>A (p.Ala390Asp) c.824C>A (p.Ala275Asp) | |
18 | g.49257074C>A | CA402506620 | DYM | c.1396G>T (p.Ala466Ser) c.826G>T (p.Ala276Ser) c.60G>T c.1393G>T (p.Ala465Ser) c.1228G>T (p.Ala410Ser) c.1390G>T (p.Ala464Ser) c.1216G>T (p.Ala406Ser) n.1753G>T c.1270G>T (p.Ala424Ser) c.1213G>T (p.Ala405Ser) c.1168G>T (p.Ala390Ser) c.823G>T (p.Ala275Ser) | |
18 | g.49257074C>G | CA402506621 | DYM | c.1396G>C (p.Ala466Pro) c.826G>C (p.Ala276Pro) c.60G>C c.1393G>C (p.Ala465Pro) c.1228G>C (p.Ala410Pro) c.1390G>C (p.Ala464Pro) c.1216G>C (p.Ala406Pro) n.1753G>C c.1270G>C (p.Ala424Pro) c.1213G>C (p.Ala405Pro) c.1168G>C (p.Ala390Pro) c.823G>C (p.Ala275Pro) | |
18 | g.49257074C>T | CA402506622 | DYM | c.1396G>A (p.Ala466Thr) c.826G>A (p.Ala276Thr) c.60G>A c.1393G>A (p.Ala465Thr) c.1228G>A (p.Ala410Thr) c.1390G>A (p.Ala464Thr) c.1216G>A (p.Ala406Thr) n.1753G>A c.1270G>A (p.Ala424Thr) c.1213G>A (p.Ala405Thr) c.1168G>A (p.Ala390Thr) c.823G>A (p.Ala275Thr) | |
18 | g.49257075T>A | CA503938875 | DYM | c.1395A>T (p.Ala465=) c.825A>T (p.Ala275=) c.59A>T c.1392A>T (p.Ala464=) c.1227A>T (p.Ala409=) c.1389A>T (p.Ala463=) c.1215A>T (p.Ala405=) n.1752A>T c.1269A>T (p.Ala423=) c.1212A>T (p.Ala404=) c.1167A>T (p.Ala389=) c.822A>T (p.Ala274=) | |
18 | g.49257075T>C | CA503938877 | DYM | c.1395A>G (p.Ala465=) c.825A>G (p.Ala275=) c.59A>G c.1392A>G (p.Ala464=) c.1227A>G (p.Ala409=) c.1389A>G (p.Ala463=) c.1215A>G (p.Ala405=) n.1752A>G c.1269A>G (p.Ala423=) c.1212A>G (p.Ala404=) c.1167A>G (p.Ala389=) c.822A>G (p.Ala274=) | |
18 | g.49257075T>G | CA503938876 | DYM | c.1395A>C (p.Ala465=) c.825A>C (p.Ala275=) c.59A>C c.1392A>C (p.Ala464=) c.1227A>C (p.Ala409=) c.1389A>C (p.Ala463=) c.1215A>C (p.Ala405=) n.1752A>C c.1269A>C (p.Ala423=) c.1212A>C (p.Ala404=) c.1167A>C (p.Ala389=) c.822A>C (p.Ala274=) | |
18 | g.49257076G>A | CA402506623 | DYM | c.1394C>T (p.Ala465Val) c.824C>T (p.Ala275Val) c.58C>T c.1391C>T (p.Ala464Val) c.1226C>T (p.Ala409Val) c.1388C>T (p.Ala463Val) c.1214C>T (p.Ala405Val) n.1751C>T c.1268C>T (p.Ala423Val) c.1211C>T (p.Ala404Val) c.1166C>T (p.Ala389Val) c.821C>T (p.Ala274Val) | |
18 | g.49257076G>C | CA402506624 | DYM | c.1394C>G (p.Ala465Gly) c.824C>G (p.Ala275Gly) c.58C>G c.1391C>G (p.Ala464Gly) c.1226C>G (p.Ala409Gly) c.1388C>G (p.Ala463Gly) c.1214C>G (p.Ala405Gly) n.1751C>G c.1268C>G (p.Ala423Gly) c.1211C>G (p.Ala404Gly) c.1166C>G (p.Ala389Gly) c.821C>G (p.Ala274Gly) | |
18 | g.49257076G>T | CA402506625 | DYM | c.1394C>A (p.Ala465Glu) c.824C>A (p.Ala275Glu) c.58C>A c.1391C>A (p.Ala464Glu) c.1226C>A (p.Ala409Glu) c.1388C>A (p.Ala463Glu) c.1214C>A (p.Ala405Glu) n.1751C>A c.1268C>A (p.Ala423Glu) c.1211C>A (p.Ala404Glu) c.1166C>A (p.Ala389Glu) c.821C>A (p.Ala274Glu) |