Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.49256976G>ACA2576501580DYMc.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)
18g.49256976G>TCA2641729050DYMc.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
18g.49256977C>ACA2641729051DYMc.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
18g.49256977C>TCA2641729052DYMc.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
18g.49256979_49256980dupCA2536646464DYMc.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)
18g.49256979A>GCA2641729053DYMc.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
18g.49256980A=CA2302132410DYMc.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=)
18g.49256980A>GCA629848417DYMc.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
18g.49256980A>TCA2641729054DYMc.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
18g.49256980_49256988delinsATCAGTATTCA2302132409DYMc.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)
18g.49256983_49256990delCA8958081DYMc.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
18g.49256982C>TCA2572305818DYMc.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)
18g.49256984G>ACA8958082DYMc.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
18g.49256984G=CA2302132411DYMc.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=)
18g.49256985T>CCA629848418DYMc.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
18g.49256985T=CA2302132412DYMc.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=)
18g.49256986A>GCA2576501581DYMc.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
18g.49256987T>ACA8958083DYMc.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
18g.49256987T>CCA780058435DYMc.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
18g.49256987T=CA2302132413DYMc.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=)
18g.49256988T>CCA8958084DYMc.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
18g.49256988T=CA2302132414DYMc.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=)
18g.49256989T>CCA629848419DYMc.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
18g.49256989T=CA2302132415DYMc.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=)
18g.49256990C=CA2302132416DYMc.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=)
18g.49256990C>GCA629848420DYMc.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
18g.49256992_49257020delCA2641729056DYMc.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
18g.49256991T>CCA2641729058DYMc.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
18g.49256995A=CA2302132417DYMc.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=)
18g.49256995A>GCA8958085DYMc.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
18g.49256999T>CCA2302132418DYMc.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
18g.49256999T=CA2302132419DYMc.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=)
18g.49257001C>ACA2641729061DYMc.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
18g.49257002A=CA2302132420DYMc.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=)
18g.49257002A>GCA629848421DYMc.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
18g.49257002A>TCA2302132421DYMc.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
18g.49257003T>CCA2641729062DYMc.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
18g.49257004A=CA2302132422DYMc.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=)
18g.49257004A>GCA2641729063DYMc.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
18g.49257004A>TCA2302132423DYMc.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
18g.49257007T>CCA8958086DYMc.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
18g.49257007T=CA2302132424DYMc.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=)
18g.49257008A>CCA402506474DYMc.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)
18g.49257008A>GCA402506475DYMc.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)
18g.49257008A>TCA402506476DYMc.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)
18g.49257009C>ACA402506477DYMc.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)
18g.49257009C>GCA402506478DYMc.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
18g.49257009C>TCA402506479DYMc.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)
18g.49257010C>ACA402506480DYMc.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)
18g.49257010C=CA2302132425DYMc.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=)
18g.49257010C>GCA402506481DYMc.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
18g.49257010C>TCA402506482DYMc.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
18g.49257011T>ACA402506485DYMc.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)
18g.49257011T>CCA402506483DYMc.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)
18g.49257011T>GCA402506484DYMc.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)
18g.49257012G>ACA503938835DYMc.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=)
18g.49257012G>CCA402506486DYMc.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
18g.49257012G=CA2302132426DYMc.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=)
18g.49257012G>TCA503938836DYMc.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=)
18g.49257013A>CCA402506487DYMc.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)
18g.49257013A>GCA402506488DYMc.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)
18g.49257013A>TCA402506489DYMc.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)
18g.49257014T>ACA402506490DYMc.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)
18g.49257014T>CCA300376750DYMc.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
18g.49257014T>GCA402506491DYMc.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)
18g.49257014T=CA2302132427DYMc.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=)
18g.49257015G>ACA503938837DYMc.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
18g.49257015G>CCA402506492DYMc.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)
18g.49257015G=CA2302132428DYMc.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=)
18g.49257015G>TCA503938838DYMc.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=)
18g.49257016A>CCA402506493DYMc.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)
18g.49257016A>GCA402506494DYMc.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)
18g.49257016A>TCA402506495DYMc.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)
18g.49257017T>ACA402506497DYMc.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)
18g.49257017T>CCA402506496DYMc.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
18g.49257017T>GCA300376751DYMc.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
18g.49257017T=CA2302132429DYMc.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=)
18g.49257018C>ACA402506498DYMc.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)
18g.49257018C=CA2302132430DYMc.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=)
18g.49257018C>GCA402506499DYMc.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)
18g.49257018C>TCA503938839DYMc.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
18g.49257019C>ACA402506500DYMc.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)
18g.49257019C=CA2302132431DYMc.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=)
18g.49257019C>GCA402506501DYMc.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)
18g.49257019C>TCA402506502DYMc.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
18g.49257020T>ACA402506503DYMc.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)
18g.49257020T>CCA402506504DYMc.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)
18g.49257020T>GCA503938840DYMc.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=)
18g.49257020T=CA2302132432DYMc.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=)
18g.49257020_49257021insGCA300376752DYMc.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
18g.49257021C>ACA402506505DYMc.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)
18g.49257021C>GCA402506506DYMc.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)
18g.49257021C>TCA503938841DYMc.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=)
18g.49257022T>ACA402506507DYMc.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)
18g.49257022T>CCA402506508DYMc.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)
18g.49257022T>GCA402506509DYMc.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)
18g.49257023G>ACA402506512DYMc.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)
18g.49257023G>CCA402506510DYMc.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)
18g.49257023G>TCA402506511DYMc.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)
18g.49257024G>ACA503938842DYMc.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=)
18g.49257024G>CCA503938843DYMc.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=)
18g.49257024G>TCA503938844DYMc.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=)
18g.49257025G>ACA402506513DYMc.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)
18g.49257025G>CCA402506514DYMc.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)
18g.49257025G>TCA402506515DYMc.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)
18g.49257026C>ACA402506516DYMc.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
18g.49257026C=CA2302132433DYMc.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=)
18g.49257026C>GCA402506517DYMc.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)
18g.49257026C>TCA402506518DYMc.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
18g.49257027A>CCA503938847DYMc.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=)
18g.49257027A>GCA503938846DYMc.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=)
18g.49257027A>TCA503938845DYMc.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
18g.49257028G>ACA402506519DYMc.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)
18g.49257028G>CCA402506520DYMc.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)
18g.49257028G>TCA402506521DYMc.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)
18g.49257028_49257029insATGGATGATCCTCCA2641729072DYMc.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
18g.49257029C>ACA402506522DYMc.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)
18g.49257029C>GCA402506523DYMc.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)
18g.49257029C>TCA402506524DYMc.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)
18g.49257030A>CCA402506526DYMc.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)
18g.49257030A>GCA503938848DYMc.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=)
18g.49257030A>TCA402506525DYMc.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)
18g.49257031T>ACA402506527DYMc.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)
18g.49257031T>CCA402506529DYMc.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
18g.49257031T>GCA402506528DYMc.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)
18g.49257031T=CA2302132434DYMc.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=)
18g.49257032A=CA2302132435DYMc.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=)
18g.49257032A>CCA402506530DYMc.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)
18g.49257032A>GCA402506531DYMc.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
18g.49257032A>TCA402506532DYMc.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)
18g.49257033C>ACA402506533DYMc.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)
18g.49257033C>GCA402506534DYMc.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)
18g.49257033C>TCA503938849DYMc.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=)
18g.49257034T>ACA402506535DYMc.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)
18g.49257034T>CCA402506536DYMc.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)
18g.49257034T>GCA402506537DYMc.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)
18g.49257035G>ACA8958087DYMc.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
18g.49257035G>CCA402506538DYMc.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)
18g.49257035G=CA2302132436DYMc.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=)
18g.49257035G>TCA402506539DYMc.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)
18g.49257036A>CCA402506541DYMc.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
18g.49257036A>GCA503938850DYMc.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=)
18g.49257036A>TCA402506540DYMc.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)
18g.49257037T>ACA402506542DYMc.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)
18g.49257037T>CCA300376753DYMc.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
18g.49257037T>GCA402506543DYMc.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)
18g.49257037T=CA2302132437DYMc.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=)
18g.49257038G>ACA402506544DYMc.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)
18g.49257038G>CCA402506545DYMc.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)
18g.49257038G>TCA402506546DYMc.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)
18g.49257039G>ACA503938851DYMc.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
18g.49257039G>CCA503938853DYMc.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=)
18g.49257039G>TCA503938852DYMc.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=)
18g.49257040A>CCA402506547DYMc.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)
18g.49257040A>GCA402506548DYMc.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)
18g.49257040A>TCA402506549DYMc.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)
18g.49257041G>ACA402506550DYMc.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
18g.49257041G>CCA402506551DYMc.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)
18g.49257041G=CA2302132438DYMc.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=)
18g.49257041G>TCA402506552DYMc.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)
18g.49257042A>CCA503938854DYMc.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=)
18g.49257042A>GCA503938855DYMc.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=)
18g.49257042A>TCA503938856DYMc.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=)
18g.49257043G>ACA402506554DYMc.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)
18g.49257043G>CCA402506555DYMc.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)
18g.49257043G>TCA402506553DYMc.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)
18g.49257044A>CCA402506556DYMc.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)
18g.49257044A>GCA402506557DYMc.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)
18g.49257044A>TCA402506558DYMc.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)
18g.49257045A=CA2302132439DYMc.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=)
18g.49257045A>CCA503938857DYMc.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=)
18g.49257045A>GCA503938858DYMc.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
18g.49257045A>TCA503938859DYMc.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=)
18g.49257046C>ACA402506559DYMc.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)
18g.49257046C=CA2302132440DYMc.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=)
18g.49257046C>GCA402506560DYMc.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
18g.49257046C>TCA8958088DYMc.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
18g.49257047G>ACA8958089DYMc.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
18g.49257047G>CCA402506561DYMc.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)
18g.49257047G=CA2302132441DYMc.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=)
18g.49257047G>TCA402506562DYMc.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)
18g.49257048A>CCA402506563DYMc.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)
18g.49257048A>GCA503938860DYMc.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=)
18g.49257048A>TCA402506564DYMc.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)
18g.49257049A>CCA402506565DYMc.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
18g.49257049A>GCA402506566DYMc.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)
18g.49257049A>TCA402506567DYMc.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)
18g.49257050A>CCA402506568DYMc.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)
18g.49257050A>GCA402506570DYMc.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)
18g.49257050A>TCA402506569DYMc.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)
18g.49257051C>ACA402506571DYMc.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)
18g.49257051C=CA2302132442DYMc.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=)
18g.49257051C>GCA402506572DYMc.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)
18g.49257051C>TCA8958090DYMc.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
18g.49257051_49257053delinsCTGCA2302132443DYMc.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=)
18g.49257052T>ACA402506573DYMc.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
18g.49257052T>CCA402506574DYMc.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)
18g.49257052T>GCA402506575DYMc.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)
18g.49257052T=CA2302132445DYMc.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=)
18g.49257054_49257055delCA2302132444DYMc.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
18g.49257053G>ACA402506576DYMc.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
18g.49257053G>CCA402506577DYMc.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)
18g.49257053G=CA2302132446DYMc.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=)
18g.49257053G>TCA402506578DYMc.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)
18g.49257054T>ACA503938861DYMc.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=)
18g.49257054T>CCA503938862DYMc.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=)
18g.49257054T>GCA503938863DYMc.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=)
18g.49257055G>ACA8958091DYMc.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
18g.49257055G>CCA402506579DYMc.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)
18g.49257055G=CA2302132447DYMc.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=)
18g.49257055G>TCA402506580DYMc.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)
18g.49257056C>ACA402506583DYMc.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)
18g.49257056C>GCA402506582DYMc.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)
18g.49257056C>TCA402506581DYMc.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)
18g.49257057C>ACA503938864DYMc.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=)
18g.49257057C=CA2302132448DYMc.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=)
18g.49257057C>GCA503938865DYMc.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=)
18g.49257057C>TCA8958092DYMc.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
18g.49257058G>ACA8958093DYMc.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
18g.49257058G>CCA402506584DYMc.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)
18g.49257058G=CA2302132449DYMc.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=)
18g.49257058G>TCA402506585DYMc.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
18g.49257059A>CCA402506586DYMc.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
18g.49257059A>GCA402506588DYMc.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)
18g.49257059A>TCA402506587DYMc.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)
18g.49257060C>ACA402506589DYMc.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)
18g.49257060C>GCA402506591DYMc.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)
18g.49257060C>TCA402506590DYMc.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)
18g.49257061A=CA2302132450DYMc.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=)
18g.49257061A>CCA402506592DYMc.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)
18g.49257061A>GCA300376754DYMc.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
18g.49257061A>TCA402506593DYMc.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)
18g.49257062delCA2556369857DYMc.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
18g.49257062T>ACA402506594DYMc.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)
18g.49257062T>CCA402506595DYMc.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
18g.49257062T>GCA402506596DYMc.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)
18g.49257062T=CA2302132451DYMc.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=)
18g.49257063A>CCA402506597DYMc.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)
18g.49257063A>GCA503938866DYMc.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
18g.49257063A>TCA402506598DYMc.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)
18g.49257064T>ACA402506599DYMc.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)
18g.49257064T>CCA402506600DYMc.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
18g.49257064T>GCA402506601DYMc.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)
18g.49257065T>ACA116049DYMc.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
18g.49257065T>CCA402506602DYMc.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)
18g.49257065T>GCA402506603DYMc.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)
18g.49257065T=CA2302132452DYMc.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=)
18g.49257066T>ACA503938867DYMc.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=)
18g.49257066T>CCA503938868DYMc.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=)
18g.49257066T>GCA503938869DYMc.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
18g.49257067G>ACA402506606DYMc.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
18g.49257067G>CCA402506604DYMc.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)
18g.49257067G=CA2302132453DYMc.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=)
18g.49257067G>TCA402506605DYMc.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)
18g.49257068C>ACA402506607DYMc.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)
18g.49257068C>GCA402506608DYMc.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)
18g.49257068C>TCA402506609DYMc.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)
18g.49257069T>ACA402506610DYMc.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)
18g.49257069T>CCA503938870DYMc.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
18g.49257069T>GCA402506611DYMc.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)
18g.49257069T=CA2302132454DYMc.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=)
18g.49257070A>CCA402506612DYMc.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)
18g.49257070A>GCA402506613DYMc.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
18g.49257070A>TCA402506614DYMc.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)
18g.49257071A>CCA402506615DYMc.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)
18g.49257071A>GCA503938871DYMc.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=)
18g.49257071A>TCA402506616DYMc.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)
18g.49257072A>CCA503938872DYMc.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=)
18g.49257072A>GCA503938873DYMc.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
18g.49257072A>TCA503938874DYMc.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=)
18g.49257073G>ACA402506618DYMc.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)
18g.49257073G>CCA402506619DYMc.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)
18g.49257073G>TCA402506617DYMc.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)
18g.49257074C>ACA402506620DYMc.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)
18g.49257074C>GCA402506621DYMc.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)
18g.49257074C>TCA402506622DYMc.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)
18g.49257075T>ACA503938875DYMc.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=)
18g.49257075T>CCA503938877DYMc.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=)
18g.49257075T>GCA503938876DYMc.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=)
18g.49257076G>ACA402506623DYMc.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)
18g.49257076G>CCA402506624DYMc.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)
18g.49257076G>TCA402506625DYMc.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)

Number of alleles fetched