| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.1213515_1213519del | CA2578258909 | SLC6A19 | c.716_720del (p.Ile239ArgfsTer?) c.624_628del (p.His208GlnfsTer3) | |
| 5 | g.1213517C>A | CA443019102 | SLC6A19 | c.718C>A (p.Arg240=) c.626C>A (p.Pro209Gln) | |
| 5 | g.1213517C= | CA1522520294 | SLC6A19 | c.718C= (p.Arg240=) c.626C= (p.Pro209=) | |
| 5 | g.1213517C>G | CA359067582 | SLC6A19 | c.718C>G (p.Arg240Gly) c.626C>G (p.Pro209Arg) | gnomAD v4 |
| 5 | g.1213517C>T | CA115308 | SLC6A19 | c.718C>T (p.Arg240Ter) c.626C>T (p.Pro209Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213518G>A | CA3182844 | SLC6A19 | c.719G>A (p.Arg240Gln) c.627G>A (p.Pro209=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213518G>C | CA3182845 | SLC6A19 | c.719G>C (p.Arg240Pro) c.627G>C (p.Pro209=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213518G= | CA1522520297 | SLC6A19 | c.719G= (p.Arg240=) c.627G= (p.Pro209=) | |
| 5 | g.1213518G>T | CA359067594 | SLC6A19 | c.719G>T (p.Arg240Leu) c.627G>T (p.Pro209=) | |
| 5 | g.1213519A= | CA1522520303 | SLC6A19 | c.720A= (p.Arg240=) c.628A= (p.Arg210=) | |
| 5 | g.1213519A>C | CA443019107 | SLC6A19 | c.720A>C (p.Arg240=) c.628A>C (p.Arg210=) | ClinVar dbSNP |
| 5 | g.1213519A>G | CA443019109 | SLC6A19 | c.720A>G (p.Arg240=) c.628A>G (p.Arg210Gly) | |
| 5 | g.1213519A>T | CA443019110 | SLC6A19 | c.720A>T (p.Arg240=) c.628A>T (p.Arg210Trp) | |
| 5 | g.1213520G>A | CA359067597 | SLC6A19 | c.721G>A (p.Gly241Ser) c.629G>A (p.Arg210Lys) | gnomAD v4 |
| 5 | g.1213520G>C | CA359067602 | SLC6A19 | c.721G>C (p.Gly241Arg) c.629G>C (p.Arg210Thr) | |
| 5 | g.1213520G= | CA1522520305 | SLC6A19 | c.721G= (p.Gly241=) c.629G= (p.Arg210=) | |
| 5 | g.1213520G>T | CA359067604 | SLC6A19 | c.721G>T (p.Gly241Cys) c.629G>T (p.Arg210Met) | dbSNP |
| 5 | g.1213521G>A | CA359067607 | SLC6A19 | c.722G>A (p.Gly241Asp) c.630G>A (p.Arg210=) | COSMIC |
| 5 | g.1213521G>C | CA359067609 | SLC6A19 | c.722G>C (p.Gly241Ala) c.630G>C (p.Arg210Ser) | |
| 5 | g.1213521G>T | CA359067612 | SLC6A19 | c.722G>T (p.Gly241Val) c.630G>T (p.Arg210Ser) | |
| 5 | g.1213522C>A | CA443019117 | SLC6A19 | c.723C>A (p.Gly241=) c.631C>A (p.Pro211Thr) | |
| 5 | g.1213522C= | CA1522520309 | SLC6A19 | c.723C= (p.Gly241=) c.631C= (p.Pro211=) | |
| 5 | g.1213522C>G | CA443019115 | SLC6A19 | c.723C>G (p.Gly241=) c.631C>G (p.Pro211Ala) | |
| 5 | g.1213522C>T | CA3182846 | SLC6A19 | c.723C>T (p.Gly241=) c.631C>T (p.Pro211Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.1213523C>A | CA359067616 | SLC6A19 | c.724C>A (p.Leu242Met) c.632C>A (p.Pro211His) | |
| 5 | g.1213523C>G | CA359067618 | SLC6A19 | c.724C>G (p.Leu242Val) c.632C>G (p.Pro211Arg) | |
| 5 | g.1213523C>T | CA443019119 | SLC6A19 | c.724C>T (p.Leu242=) c.632C>T (p.Pro211Leu) | gnomAD v4 |
| 5 | g.1213524T>A | CA359067628 | SLC6A19 | c.725T>A (p.Leu242Gln) c.633T>A (p.Pro211=) | |
| 5 | g.1213524T>C | CA3182847 | SLC6A19 | c.725T>C (p.Leu242Pro) c.633T>C (p.Pro211=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213524T>G | CA359067621 | SLC6A19 | c.725T>G (p.Leu242Arg) c.633T>G (p.Pro211=) | |
| 5 | g.1213524T= | CA1522520312 | SLC6A19 | c.725T= (p.Leu242=) c.633T= (p.Pro211=) | |
| 5 | g.1213525G>A | CA443019120 | SLC6A19 | c.726G>A (p.Leu242=) c.634G>A (p.Asp212Asn) | |
| 5 | g.1213525G>C | CA443019121 | SLC6A19 | c.726G>C (p.Leu242=) c.634G>C (p.Asp212His) | |
| 5 | g.1213525G>T | CA443019122 | SLC6A19 | c.726G>T (p.Leu242=) c.634G>T (p.Asp212Tyr) | |
| 5 | g.1213526A= | CA1522520316 | SLC6A19 | c.727A= (p.Thr243=) c.635A= (p.Asp212=) | |
| 5 | g.1213526A>C | CA359067635 | SLC6A19 | c.727A>C (p.Thr243Pro) c.635A>C (p.Asp212Ala) | |
| 5 | g.1213526A>G | CA359067638 | SLC6A19 | c.727A>G (p.Thr243Ala) c.635A>G (p.Asp212Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213526A>T | CA359067641 | SLC6A19 | c.727A>T (p.Thr243Ser) c.635A>T (p.Asp212Val) | |
| 5 | g.1213526_1213527delinsAC | CA1522520317 | SLC6A19 | c.727_728delinsAC (p.Thr243=) c.635_636delinsAC (p.Asp212=) | |
| 5 | g.1213527del | CA891862678 | SLC6A19 | c.728del (p.Thr243SerfsTer2) c.636del (p.Asp212GlufsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213527C>A | CA359067645 | SLC6A19 | c.728C>A (p.Thr243Lys) c.636C>A (p.Asp212Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213527C= | CA1522520326 | SLC6A19 | c.728C= (p.Thr243=) c.636C= (p.Asp212=) | |
| 5 | g.1213527C>G | CA359067646 | SLC6A19 | c.728C>G (p.Thr243Arg) c.636C>G (p.Asp212Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.1213527C>T | CA3182848 | SLC6A19 | c.728C>T (p.Thr243Met) c.636C>T (p.Asp212=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213528G>A | CA112941516 | SLC6A19 | c.729G>A (p.Thr243=) c.637G>A (p.Ala213Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.1213528G>C | CA443019128 | SLC6A19 | c.729G>C (p.Thr243=) c.637G>C (p.Ala213Pro) | |
| 5 | g.1213528G= | CA1522520331 | SLC6A19 | c.729G= (p.Thr243=) c.637G= (p.Ala213=) | |
| 5 | g.1213528G>T | CA3182849 | SLC6A19 | c.729G>T (p.Thr243=) c.637G>T (p.Ala213Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.1213529C>A | CA359067648 | SLC6A19 | c.730C>A (p.Leu244Met) c.638C>A (p.Ala213Asp) | |
| 5 | g.1213529C>G | CA359067649 | SLC6A19 | c.730C>G (p.Leu244Val) c.638C>G (p.Ala213Gly) |