Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.240873995T>A | CA351316814 | AGXT | c.613T>A (p.Ser205Thr) n.332+946T>A | |
2 | g.240873995T>C | CA340441 | AGXT | c.613T>C (p.Ser205Pro) n.332+946T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240873995T>G | CA351316816 | AGXT | c.613T>G (p.Ser205Ala) n.332+946T>G | |
2 | g.240873995T= | CA1339333564 | AGXT | c.613T= (p.Ser205=) n.332+946T= | |
2 | g.240873996C>A | CA275723 | AGXT | c.614C>A (p.Ser205Ter) n.332+947C>A | ClinVar dbSNP |
2 | g.240873996C= | CA1339333565 | AGXT | c.614C= (p.Ser205=) n.332+947C= | |
2 | g.240873996C>G | CA351316819 | AGXT | c.614C>G (p.Ser205Trp) n.332+947C>G | dbSNP |
2 | g.240873996C>T | CA275721 | AGXT | c.614C>T (p.Ser205Leu) n.332+947C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.240873997G>A | CA2209173 | AGXT | c.615G>A (p.Ser205=) n.332+948G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240873997G>C | CA432024124 | AGXT | c.615G>C (p.Ser205=) n.332+948G>C | dbSNP gnomAD v2 |
2 | g.240873997G= | CA1339333566 | AGXT | c.615G= (p.Ser205=) n.332+948G= | |
2 | g.240873997G>T | CA432024125 | AGXT | c.615G>T (p.Ser205=) n.332+948G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.240873998G>A | CA351316823 | AGXT | c.616G>A (p.Gly206Ser) n.332+949G>A | |
2 | g.240873998G>C | CA351316825 | AGXT | c.616G>C (p.Gly206Arg) n.332+949G>C | |
2 | g.240873998G>T | CA351316827 | AGXT | c.616G>T (p.Gly206Cys) n.332+949G>T | |
2 | g.240873999G>A | CA351316829 | AGXT | c.617G>A (p.Gly206Asp) n.332+950G>A | |
2 | g.240873999G>C | CA351316831 | AGXT | c.617G>C (p.Gly206Ala) n.332+950G>C | |
2 | g.240873999G>T | CA351316833 | AGXT | c.617G>T (p.Gly206Val) n.332+950G>T | |
2 | g.240874000C>A | CA432024127 | AGXT | c.618C>A (p.Gly206=) n.332+951C>A | |
2 | g.240874000C= | CA1339333567 | AGXT | c.618C= (p.Gly206=) n.332+951C= | |
2 | g.240874000C>G | CA432024128 | AGXT | c.618C>G (p.Gly206=) n.332+951C>G | |
2 | g.240874000C>T | CA432024129 | AGXT | c.618C>T (p.Gly206=) n.332+951C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240874001T>A | CA351316834 | AGXT | c.619T>A (p.Ser207Thr) n.332+952T>A | |
2 | g.240874001T>C | CA351316839 | AGXT | c.619T>C (p.Ser207Pro) n.332+952T>C | |
2 | g.240874001T>G | CA351316837 | AGXT | c.619T>G (p.Ser207Ala) n.332+952T>G | |
2 | g.240874002C>A | CA351316841 | AGXT | c.620C>A (p.Ser207Tyr) n.332+953C>A | |
2 | g.240874002C>G | CA351316843 | AGXT | c.620C>G (p.Ser207Cys) n.332+953C>G | |
2 | g.240874002C>T | CA351316845 | AGXT | c.620C>T (p.Ser207Phe) n.332+953C>T | |
2 | g.240874003C>A | CA432024133 | AGXT | c.621C>A (p.Ser207=) n.332+954C>A | |
2 | g.240874003C>G | CA432024134 | AGXT | c.621C>G (p.Ser207=) n.332+954C>G | |
2 | g.240874003C>T | CA432024136 | AGXT | c.621C>T (p.Ser207=) n.332+954C>T | |
2 | g.240874004C>A | CA2209174 | AGXT | c.622C>A (p.Gln208Lys) n.332+955C>A | dbSNP ExAC gnomAD v2 |
2 | g.240874004C= | CA1339333568 | AGXT | c.622C= (p.Gln208=) n.332+955C= | |
2 | g.240874004C>G | CA351316848 | AGXT | c.622C>G (p.Gln208Glu) n.332+955C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240874004C>T | CA351316850 | AGXT | c.622C>T (p.Gln208Ter) n.332+955C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240874005A= | CA1339333569 | AGXT | c.623A= (p.Gln208=) n.332+956A= | |
2 | g.240874005A>C | CA351316852 | AGXT | c.623A>C (p.Gln208Pro) n.332+956A>C | |
2 | g.240874005A>G | CA2209175 | AGXT | c.623A>G (p.Gln208Arg) n.332+956A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240874005A>T | CA351316854 | AGXT | c.623A>T (p.Gln208Leu) n.332+956A>T | |
2 | g.240874006G>A | CA432024140 | AGXT | c.624G>A (p.Gln208=) n.332+957G>A | ClinVar dbSNP |
2 | g.240874006G>C | CA351316856 | AGXT | c.624G>C (p.Gln208His) n.332+957G>C | COSMIC |
2 | g.240874006G>T | CA351316858 | AGXT | c.624G>T (p.Gln208His) n.332+957G>T | |
2 | g.240874007A>C | CA351316861 | AGXT | c.625A>C (p.Lys209Gln) n.332+958A>C | |
2 | g.240874007A>G | CA351316865 | AGXT | c.625A>G (p.Lys209Glu) n.332+958A>G | gnomAD v4 COSMIC |
2 | g.240874007A>T | CA351316862 | AGXT | c.625A>T (p.Lys209Ter) n.332+958A>T | |
2 | g.240874008del | CA2697550616 | AGXT | c.626del (p.Lys209ArgfsTer3) n.332+959del | |
2 | g.240874008A>C | CA351316867 | AGXT | c.626A>C (p.Lys209Thr) n.332+959A>C | gnomAD v4 |
2 | g.240874008A>G | CA351316869 | AGXT | c.626A>G (p.Lys209Arg) n.332+959A>G | COSMIC |
2 | g.240874008A>T | CA351316871 | AGXT | c.626A>T (p.Lys209Met) n.332+959A>T | |
2 | g.240874009G>A | CA432024144 | AGXT | c.627G>A (p.Lys209=) n.332+960G>A | ClinVar COSMIC |