Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.240878128G>A | CA274217 | AGXT | c.1049G>A (p.Gly350Asp) n.827G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878128G>C | CA351319668 | AGXT | c.1049G>C (p.Gly350Ala) n.827G>C | |
2 | g.240878128G= | CA1339335804 | AGXT | c.1049G= (p.Gly350=) n.827G= | |
2 | g.240878128G>T | CA2209388 | AGXT | c.1049G>T (p.Gly350Val) n.827G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878129C>A | CA432026465 | AGXT | c.1050C>A (p.Gly350=) n.828C>A | |
2 | g.240878129C>G | CA432026467 | AGXT | c.1050C>G (p.Gly350=) n.828C>G | |
2 | g.240878129C>T | CA432026468 | AGXT | c.1050C>T (p.Gly350=) n.828C>T | |
2 | g.240878130C>A | CA351319670 | AGXT | c.1051C>A (p.Leu351Ile) n.829C>A | |
2 | g.240878130C= | CA1339335805 | AGXT | c.1051C= (p.Leu351=) n.829C= | |
2 | g.240878130C>G | CA351319671 | AGXT | c.1051C>G (p.Leu351Val) n.829C>G | |
2 | g.240878130C>T | CA351319669 | AGXT | c.1051C>T (p.Leu351Phe) n.829C>T | dbSNP |
2 | g.240878131T>A | CA351319672 | AGXT | c.1052T>A (p.Leu351His) n.830T>A | |
2 | g.240878131T>C | CA351319673 | AGXT | c.1052T>C (p.Leu351Pro) n.830T>C | gnomAD v4 |
2 | g.240878131T>G | CA351319674 | AGXT | c.1052T>G (p.Leu351Arg) n.830T>G | |
2 | g.240878132T>A | CA432026479 | AGXT | c.1053T>A (p.Leu351=) n.831T>A | |
2 | g.240878132T>C | CA2209389 | AGXT | c.1053T>C (p.Leu351=) n.831T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240878132T>G | CA432026483 | AGXT | c.1053T>G (p.Leu351=) n.831T>G | |
2 | g.240878132T= | CA1339335806 | AGXT | c.1053T= (p.Leu351=) n.831T= | |
2 | g.240878133G>A | CA351319676 | AGXT | c.1054G>A (p.Gly352Arg) n.832G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240878133G>C | CA351319675 | AGXT | c.1054G>C (p.Gly352Arg) n.832G>C | |
2 | g.240878133G= | CA1339335807 | AGXT | c.1054G= (p.Gly352=) n.832G= | |
2 | g.240878133G>T | CA68180877 | AGXT | c.1054G>T (p.Gly352Trp) n.832G>T | dbSNP gnomAD v4 |
2 | g.240878134G>A | CA351319677 | AGXT | c.1055G>A (p.Gly352Glu) n.833G>A | |
2 | g.240878134G>C | CA351319678 | AGXT | c.1055G>C (p.Gly352Ala) n.833G>C | |
2 | g.240878134G>T | CA351319679 | AGXT | c.1055G>T (p.Gly352Val) n.833G>T | |
2 | g.240878135G>A | CA432026496 | AGXT | c.1056G>A (p.Gly352=) n.834G>A | ClinVar dbSNP |
2 | g.240878135G>C | CA432026497 | AGXT | c.1056G>C (p.Gly352=) n.834G>C | |
2 | g.240878135G= | CA1339335808 | AGXT | c.1056G= (p.Gly352=) n.834G= | |
2 | g.240878135G>T | CA432026498 | AGXT | c.1056G>T (p.Gly352=) n.834G>T | ClinVar dbSNP |
2 | g.240878136C>A | CA351319680 | AGXT | c.1057C>A (p.Pro353Thr) n.835C>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240878136C= | CA1339335809 | AGXT | c.1057C= (p.Pro353=) n.835C= | |
2 | g.240878136C>G | CA351319681 | AGXT | c.1057C>G (p.Pro353Ala) n.835C>G | |
2 | g.240878136C>T | CA351319682 | AGXT | c.1057C>T (p.Pro353Ser) n.835C>T | |
2 | g.240878137C>A | CA351319684 | AGXT | c.1058C>A (p.Pro353His) n.836C>A | |
2 | g.240878137C= | CA1339335810 | AGXT | c.1058C= (p.Pro353=) n.836C= | |
2 | g.240878137C>G | CA351319683 | AGXT | c.1058C>G (p.Pro353Arg) n.836C>G | |
2 | g.240878137C>T | CA68180879 | AGXT | c.1058C>T (p.Pro353Leu) n.836C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.240878138C>A | CA432026512 | AGXT | c.1059C>A (p.Pro353=) n.837C>A | |
2 | g.240878138C>G | CA432026508 | AGXT | c.1059C>G (p.Pro353=) n.837C>G | |
2 | g.240878138C>T | CA432026510 | AGXT | c.1059C>T (p.Pro353=) n.837C>T | ClinVar |
2 | g.240878139T>A | CA351319685 | AGXT | c.1060T>A (p.Ser354Thr) n.838T>A | |
2 | g.240878139T>C | CA351319687 | AGXT | c.1060T>C (p.Ser354Pro) n.838T>C | |
2 | g.240878139T>G | CA351319686 | AGXT | c.1060T>G (p.Ser354Ala) n.838T>G | |
2 | g.240878140C>A | CA351319688 | AGXT | c.1061C>A (p.Ser354Tyr) n.839C>A | gnomAD v4 |
2 | g.240878140C= | CA1339335811 | AGXT | c.1061C= (p.Ser354=) n.839C= | |
2 | g.240878140C>G | CA351319689 | AGXT | c.1061C>G (p.Ser354Cys) n.839C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240878140C>T | CA351319690 | AGXT | c.1061C>T (p.Ser354Phe) n.839C>T | |
2 | g.240878141C>A | CA432026518 | AGXT | c.1062C>A (p.Ser354=) n.840C>A | |
2 | g.240878141C>G | CA432026520 | AGXT | c.1062C>G (p.Ser354=) n.840C>G | |
2 | g.240878141C>T | CA432026522 | AGXT | c.1062C>T (p.Ser354=) n.840C>T |