| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.124404649_124405541del | CA2499220186 | OAT | c.546_649-726del n.347_450-726del n.392_495-726del c.132_235-726del c.225_328-726del c.-55_49-726del | ClinVar dbSNP |
| 10 | g.124405434A>C | CA378636062 | OAT | c.648+2T>G (n.648+2T>G) n.449+2T>G n.494+2T>G c.234+2T>G (n.234+2T>G) c.327+2T>G (n.327+2T>G) c.48+2T>G (n.48+2T>G) | |
| 10 | g.124405434A>G | CA378636063 | OAT | c.648+2T>C (n.648+2T>C) n.449+2T>C n.494+2T>C c.234+2T>C (n.234+2T>C) c.327+2T>C (n.327+2T>C) c.48+2T>C (n.48+2T>C) | |
| 10 | g.124405434A>T | CA378636060 | OAT | c.648+2T>A (n.648+2T>A) n.449+2T>A n.494+2T>A c.234+2T>A (n.234+2T>A) c.327+2T>A (n.327+2T>A) c.48+2T>A (n.48+2T>A) | |
| 10 | g.124405435C>A | CA378636064 | OAT | c.648+1G>T (n.648+1G>T) n.449+1G>T n.494+1G>T c.234+1G>T (n.234+1G>T) c.327+1G>T (n.327+1G>T) c.48+1G>T (n.48+1G>T) | |
| 10 | g.124405435C= | CA1942339056 | OAT | c.648+1G= (n.648+1G=) n.449+1G= n.494+1G= c.234+1G= (n.234+1G=) c.327+1G= (n.327+1G=) c.48+1G= (n.48+1G=) | |
| 10 | g.124405435C>G | CA378636066 | OAT | c.648+1G>C (n.648+1G>C) n.449+1G>C n.494+1G>C c.234+1G>C (n.234+1G>C) c.327+1G>C (n.327+1G>C) c.48+1G>C (n.48+1G>C) | |
| 10 | g.124405435C>T | CA378636072 | OAT | c.648+1G>A (n.648+1G>A) n.449+1G>A n.494+1G>A c.234+1G>A (n.234+1G>A) c.327+1G>A (n.327+1G>A) c.48+1G>A (n.48+1G>A) | ClinVar dbSNP |
| 10 | g.124405436C>A | CA378636075 | OAT | c.648G>T (p.Glu216Asp) n.449G>T n.494G>T c.234G>T (p.Glu78Asp) c.327G>T (p.Glu109Asp) c.48G>T (p.Glu16Asp) | |
| 10 | g.124405436C>G | CA378636077 | OAT | c.648G>C (p.Glu216Asp) n.449G>C n.494G>C c.234G>C (p.Glu78Asp) c.327G>C (p.Glu109Asp) c.48G>C (p.Glu16Asp) | |
| 10 | g.124405436C>T | CA471762946 | OAT | c.648G>A (p.Glu216=) n.449G>A n.494G>A c.234G>A (p.Glu78=) c.327G>A (p.Glu109=) c.48G>A (p.Glu16=) | |
| 10 | g.124405437T>A | CA378636079 | OAT | c.647A>T (p.Glu216Val) n.448A>T n.493A>T c.233A>T (p.Glu78Val) c.326A>T (p.Glu109Val) c.47A>T (p.Glu16Val) | |
| 10 | g.124405437T>C | CA378636078 | OAT | c.647A>G (p.Glu216Gly) n.448A>G n.493A>G c.233A>G (p.Glu78Gly) c.326A>G (p.Glu109Gly) c.47A>G (p.Glu16Gly) | |
| 10 | g.124405437T>G | CA215250422 | OAT | c.647A>C (p.Glu216Ala) n.448A>C n.493A>C c.233A>C (p.Glu78Ala) c.326A>C (p.Glu109Ala) c.47A>C (p.Glu16Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124405437T= | CA1942339057 | OAT | c.647A= (p.Glu216=) n.448A= n.493A= c.233A= (p.Glu78=) c.326A= (p.Glu109=) c.47A= (p.Glu16=) | |
| 10 | g.124405438C>A | CA378636081 | OAT | c.646G>T (p.Glu216Ter) n.447G>T n.492G>T c.232G>T (p.Glu78Ter) c.325G>T (p.Glu109Ter) c.46G>T (p.Glu16Ter) | |
| 10 | g.124405438C>G | CA378636082 | OAT | c.646G>C (p.Glu216Gln) n.447G>C n.492G>C c.232G>C (p.Glu78Gln) c.325G>C (p.Glu109Gln) c.46G>C (p.Glu16Gln) | |
| 10 | g.124405438C>T | CA378636084 | OAT | c.646G>A (p.Glu216Lys) n.447G>A n.492G>A c.232G>A (p.Glu78Lys) c.325G>A (p.Glu109Lys) c.46G>A (p.Glu16Lys) | |
| 10 | g.124405439C>A | CA471762947 | OAT | c.645G>T (p.Leu215=) n.446G>T n.491G>T c.231G>T (p.Leu77=) c.324G>T (p.Leu108=) c.45G>T (p.Leu15=) | |
| 10 | g.124405439C>G | CA471762948 | OAT | c.645G>C (p.Leu215=) n.446G>C n.491G>C c.231G>C (p.Leu77=) c.324G>C (p.Leu108=) c.45G>C (p.Leu15=) | |
| 10 | g.124405439C>T | CA471762949 | OAT | c.645G>A (p.Leu215=) n.446G>A n.491G>A c.231G>A (p.Leu77=) c.324G>A (p.Leu108=) c.45G>A (p.Leu15=) | |
| 10 | g.124405440A>C | CA378636085 | OAT | c.644T>G (p.Leu215Arg) n.445T>G n.490T>G c.230T>G (p.Leu77Arg) c.323T>G (p.Leu108Arg) c.44T>G (p.Leu15Arg) | |
| 10 | g.124405440A>G | CA378636087 | OAT | c.644T>C (p.Leu215Pro) n.445T>C n.490T>C c.230T>C (p.Leu77Pro) c.323T>C (p.Leu108Pro) c.44T>C (p.Leu15Pro) | |
| 10 | g.124405440A>T | CA378636089 | OAT | c.644T>A (p.Leu215Gln) n.445T>A n.490T>A c.230T>A (p.Leu77Gln) c.323T>A (p.Leu108Gln) c.44T>A (p.Leu15Gln) | |
| 10 | g.124405441G>A | CA215250426 | OAT | c.643C>T (p.Leu215=) n.444C>T n.489C>T c.229C>T (p.Leu77=) c.322C>T (p.Leu108=) c.43C>T (p.Leu15=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124405441G>C | CA378636092 | OAT | c.643C>G (p.Leu215Val) n.444C>G n.489C>G c.229C>G (p.Leu77Val) c.322C>G (p.Leu108Val) c.43C>G (p.Leu15Val) | dbSNP |
| 10 | g.124405441G= | CA1942339058 | OAT | c.643C= (p.Leu215=) n.444C= n.489C= c.229C= (p.Leu77=) c.322C= (p.Leu108=) c.43C= (p.Leu15=) | |
| 10 | g.124405441G>T | CA378636093 | OAT | c.643C>A (p.Leu215Met) n.444C>A n.489C>A c.229C>A (p.Leu77Met) c.322C>A (p.Leu108Met) c.43C>A (p.Leu15Met) | |
| 10 | g.124405442T>A | CA471762951 | OAT | c.642A>T (p.Ala214=) n.443A>T n.488A>T c.228A>T (p.Ala76=) c.321A>T (p.Ala107=) c.42A>T (p.Ala14=) | |
| 10 | g.124405442T>C | CA471762952 | OAT | c.642A>G (p.Ala214=) n.443A>G n.488A>G c.228A>G (p.Ala76=) c.321A>G (p.Ala107=) c.42A>G (p.Ala14=) | ClinVar |
| 10 | g.124405442T>G | CA471762950 | OAT | c.642A>C (p.Ala214=) n.443A>C n.488A>C c.228A>C (p.Ala76=) c.321A>C (p.Ala107=) c.42A>C (p.Ala14=) | |
| 10 | g.124405443G>A | CA378636096 | OAT | c.641C>T (p.Ala214Val) n.442C>T n.487C>T c.227C>T (p.Ala76Val) c.320C>T (p.Ala107Val) c.41C>T (p.Ala14Val) | |
| 10 | g.124405443G>C | CA378636098 | OAT | c.641C>G (p.Ala214Gly) n.442C>G n.487C>G c.227C>G (p.Ala76Gly) c.320C>G (p.Ala107Gly) c.41C>G (p.Ala14Gly) | |
| 10 | g.124405443G= | CA1942339059 | OAT | c.641C= (p.Ala214=) n.442C= n.487C= c.227C= (p.Ala76=) c.320C= (p.Ala107=) c.41C= (p.Ala14=) | |
| 10 | g.124405443G>T | CA378636100 | OAT | c.641C>A (p.Ala214Glu) n.442C>A n.487C>A c.227C>A (p.Ala76Glu) c.320C>A (p.Ala107Glu) c.41C>A (p.Ala14Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.124405444C>A | CA378636102 | OAT | c.640G>T (p.Ala214Ser) n.441G>T n.486G>T c.226G>T (p.Ala76Ser) c.319G>T (p.Ala107Ser) c.40G>T (p.Ala14Ser) | ClinVar dbSNP gnomAD v4 |
| 10 | g.124405444C= | CA1942339060 | OAT | c.640G= (p.Ala214=) n.441G= n.486G= c.226G= (p.Ala76=) c.319G= (p.Ala107=) c.40G= (p.Ala14=) | |
| 10 | g.124405444C>G | CA378636103 | OAT | c.640G>C (p.Ala214Pro) n.441G>C n.486G>C c.226G>C (p.Ala76Pro) c.319G>C (p.Ala107Pro) c.40G>C (p.Ala14Pro) | |
| 10 | g.124405444C>T | CA378636105 | OAT | c.640G>A (p.Ala214Thr) n.441G>A n.486G>A c.226G>A (p.Ala76Thr) c.319G>A (p.Ala107Thr) c.40G>A (p.Ala14Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.124405445G>A | CA5733481 | OAT | c.639C>T (p.Pro213=) n.440C>T n.485C>T c.225C>T (p.Pro75=) c.318C>T (p.Pro106=) c.39C>T (p.Pro13=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.124405445G>C | CA471762953 | OAT | c.639C>G (p.Pro213=) n.440C>G n.485C>G c.225C>G (p.Pro75=) c.318C>G (p.Pro106=) c.39C>G (p.Pro13=) | dbSNP |
| 10 | g.124405445G= | CA1942339061 | OAT | c.639C= (p.Pro213=) n.440C= n.485C= c.225C= (p.Pro75=) c.318C= (p.Pro106=) c.39C= (p.Pro13=) | |
| 10 | g.124405445G>T | CA471762954 | OAT | c.639C>A (p.Pro213=) n.440C>A n.485C>A c.225C>A (p.Pro75=) c.318C>A (p.Pro106=) c.39C>A (p.Pro13=) | |
| 10 | g.124405446G>A | CA5733482 | OAT | c.638C>T (p.Pro213Leu) n.439C>T n.484C>T c.224C>T (p.Pro75Leu) c.317C>T (p.Pro106Leu) c.38C>T (p.Pro13Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.124405446G>C | CA378636118 | OAT | c.638C>G (p.Pro213Arg) n.439C>G n.484C>G c.224C>G (p.Pro75Arg) c.317C>G (p.Pro106Arg) c.38C>G (p.Pro13Arg) | |
| 10 | g.124405446G= | CA1942339062 | OAT | c.638C= (p.Pro213=) n.439C= n.484C= c.224C= (p.Pro75=) c.317C= (p.Pro106=) c.38C= (p.Pro13=) | |
| 10 | g.124405446G>T | CA378636120 | OAT | c.638C>A (p.Pro213His) n.439C>A n.484C>A c.224C>A (p.Pro75His) c.317C>A (p.Pro106His) c.38C>A (p.Pro13His) | |
| 10 | g.124405447G>A | CA378636122 | OAT | c.637C>T (p.Pro213Ser) n.438C>T n.483C>T c.223C>T (p.Pro75Ser) c.316C>T (p.Pro106Ser) c.37C>T (p.Pro13Ser) | |
| 10 | g.124405447G>C | CA378636123 | OAT | c.637C>G (p.Pro213Ala) n.438C>G n.483C>G c.223C>G (p.Pro75Ala) c.316C>G (p.Pro106Ala) c.37C>G (p.Pro13Ala) | |
| 10 | g.124405447G>T | CA378636126 | OAT | c.637C>A (p.Pro213Thr) n.438C>A n.483C>A c.223C>A (p.Pro75Thr) c.316C>A (p.Pro106Thr) c.37C>A (p.Pro13Thr) | gnomAD v4 |