UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 5 | g.1213529C>T | CA443019131 | SLC6A19 | c.730C>T (p.Leu244=) c.638C>T (p.Ala213Val) | |
| 5 | g.1213530T>A | CA359067652 | SLC6A19 | c.731T>A (p.Leu244Gln) c.639T>A (p.Ala213=) | |
| 5 | g.1213530T>C | CA359067654 | SLC6A19 | c.731T>C (p.Leu244Pro) c.639T>C (p.Ala213=) | |
| 5 | g.1213530T>G | CA359067657 | SLC6A19 | c.731T>G (p.Leu244Arg) c.639T>G (p.Ala213=) | COSMIC |
| 5 | g.1213531G>A | CA443019134 | SLC6A19 | c.732G>A (p.Leu244=) c.640G>A (p.Glu214Lys) | dbSNP |
| 5 | g.1213531G>C | CA443019135 | SLC6A19 | c.732G>C (p.Leu244=) c.640G>C (p.Glu214Gln) | |
| 5 | g.1213531G= | CA1522520333 | SLC6A19 | c.732G= (p.Leu244=) c.640G= (p.Glu214=) | |
| 5 | g.1213531G>T | CA443019137 | SLC6A19 | c.732G>T (p.Leu244=) c.640G>T (p.Glu214Ter) | |
| 5 | g.1213532A>C | CA359067662 | SLC6A19 | c.733A>C (p.Lys245Gln) c.641A>C (p.Glu214Ala) | |
| 5 | g.1213532A>G | CA359067661 | SLC6A19 | c.733A>G (p.Lys245Glu) c.641A>G (p.Glu214Gly) | |
| 5 | g.1213532A>T | CA359067659 | SLC6A19 | c.733A>T (p.Lys245Ter) c.641A>T (p.Glu214Val) | |
| 5 | g.1213533A>C | CA359067664 | SLC6A19 | c.734A>C (p.Lys245Thr) c.642A>C (p.Glu214Asp) | |
| 5 | g.1213533A>G | CA359067666 | SLC6A19 | c.734A>G (p.Lys245Arg) c.642A>G (p.Glu214=) | |
| 5 | g.1213533A>T | CA359067668 | SLC6A19 | c.734A>T (p.Lys245Met) c.642A>T (p.Glu214Asp) | |
| 5 | g.1213534G>A | CA443019148 | SLC6A19 | c.735G>A (p.Lys245=) c.643G>A (p.Gly215Arg) | |
| 5 | g.1213534G>C | CA359067669 | SLC6A19 | c.735G>C (p.Lys245Asn) c.643G>C (p.Gly215Arg) | |
| 5 | g.1213534G>T | CA359067670 | SLC6A19 | c.735G>T (p.Lys245Asn) c.643G>T (p.Gly215Trp) | |
| 5 | g.1213535G>A | CA359067671 | SLC6A19 | c.736G>A (p.Gly246Ser) c.644G>A (p.Gly215Glu) | |
| 5 | g.1213535G>C | CA359067672 | SLC6A19 | c.736G>C (p.Gly246Arg) c.644G>C (p.Gly215Ala) | |
| 5 | g.1213535G>T | CA359067673 | SLC6A19 | c.736G>T (p.Gly246Cys) c.644G>T (p.Gly215Val) | gnomAD v4 |
| 5 | g.1213536G>A | CA359067676 | SLC6A19 | c.737G>A (p.Gly246Asp) c.645G>A (p.Gly215=) | |
| 5 | g.1213536G>C | CA359067677 | SLC6A19 | c.737G>C (p.Gly246Ala) c.645G>C (p.Gly215=) | |
| 5 | g.1213536G= | CA1522520336 | SLC6A19 | c.737G= (p.Gly246=) c.645G= (p.Gly215=) | |
| 5 | g.1213536G>T | CA359067678 | SLC6A19 | c.737G>T (p.Gly246Val) c.645G>T (p.Gly215=) | dbSNP gnomAD v4 |
| 5 | g.1213537C>A | CA443019158 | SLC6A19 | c.738C>A (p.Gly246=) c.646C>A (p.Arg216Ser) | gnomAD v4 |
| 5 | g.1213537C= | CA1522520338 | SLC6A19 | c.738C= (p.Gly246=) c.646C= (p.Arg216=) | |
| 5 | g.1213537C>G | CA443019159 | SLC6A19 | c.738C>G (p.Gly246=) c.646C>G (p.Arg216Gly) | |
| 5 | g.1213537C>T | CA3182850 | SLC6A19 | c.738C>T (p.Gly246=) c.646C>T (p.Arg216Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213538G>A | CA3182851 | SLC6A19 | c.739G>A (p.Ala247Thr) c.647G>A (p.Arg216His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213538G>C | CA359067685 | SLC6A19 | c.739G>C (p.Ala247Pro) c.647G>C (p.Arg216Pro) | |
| 5 | g.1213538G= | CA1522520340 | SLC6A19 | c.739G= (p.Ala247=) c.647G= (p.Arg216=) | |
| 5 | g.1213538G>T | CA3182852 | SLC6A19 | c.739G>T (p.Ala247Ser) c.647G>T (p.Arg216Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213539C>A | CA359067688 | SLC6A19 | c.740C>A (p.Ala247Asp) c.648C>A (p.Arg216=) | gnomAD v4 |
| 5 | g.1213539C>G | CA359067693 | SLC6A19 | c.740C>G (p.Ala247Gly) c.648C>G (p.Arg216=) | |
| 5 | g.1213539C>T | CA359067690 | SLC6A19 | c.740C>T (p.Ala247Val) c.648C>T (p.Arg216=) | |
| 5 | g.1213540C>A | CA443019163 | SLC6A19 | c.741C>A (p.Ala247=) c.649C>A (p.His217Asn) | |
| 5 | g.1213540C>G | CA443019164 | SLC6A19 | c.741C>G (p.Ala247=) c.649C>G (p.His217Asp) | |
| 5 | g.1213540C>T | CA443019165 | SLC6A19 | c.741C>T (p.Ala247=) c.649C>T (p.His217Tyr) | |
| 5 | g.1213541A>C | CA359067695 | SLC6A19 | c.742A>C (p.Thr248Pro) c.650A>C (p.His217Pro) | |
| 5 | g.1213541A>G | CA359067698 | SLC6A19 | c.742A>G (p.Thr248Ala) c.650A>G (p.His217Arg) | |
| 5 | g.1213541A>T | CA359067699 | SLC6A19 | c.742A>T (p.Thr248Ser) c.650A>T (p.His217Leu) | |
| 5 | g.1213542C>A | CA359067701 | SLC6A19 | c.743C>A (p.Thr248Asn) c.651C>A (p.His217Gln) | |
| 5 | g.1213542C>G | CA359067703 | SLC6A19 | c.743C>G (p.Thr248Ser) c.651C>G (p.His217Gln) | |
| 5 | g.1213542C>T | CA359067705 | SLC6A19 | c.743C>T (p.Thr248Ile) c.651C>T (p.His217=) | dbSNP |
| 5 | g.1213543C>A | CA443019170 | SLC6A19 | c.744C>A (p.Thr248=) c.652C>A (p.Gln218Lys) | |
| 5 | g.1213543C>G | CA443019173 | SLC6A19 | c.744C>G (p.Thr248=) c.652C>G (p.Gln218Glu) | |
| 5 | g.1213543C>T | CA443019175 | SLC6A19 | c.744C>T (p.Thr248=) c.652C>T (p.Gln218Ter) | |
| 5 | g.1213544A= | CA1522520341 | SLC6A19 | c.745A= (p.Asn249=) c.653A= (p.Gln218=) | |
| 5 | g.1213544A>C | CA359067707 | SLC6A19 | c.745A>C (p.Asn249His) c.653A>C (p.Gln218Pro) | |
| 5 | g.1213544A>G | CA112941524 | SLC6A19 | c.745A>G (p.Asn249Asp) c.653A>G (p.Gln218Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.1213544A>T | CA359067709 | SLC6A19 | c.745A>T (p.Asn249Tyr) c.653A>T (p.Gln218Leu) | |
| 5 | g.1213545A= | CA1522520344 | SLC6A19 | c.746A= (p.Asn249=) c.654A= (p.Gln218=) | |
| 5 | g.1213545A>C | CA359067712 | SLC6A19 | c.746A>C (p.Asn249Thr) c.654A>C (p.Gln218His) | gnomAD v4 |
| 5 | g.1213545A>G | CA359067714 | SLC6A19 | c.746A>G (p.Asn249Ser) c.654A>G (p.Gln218=) | dbSNP |
| 5 | g.1213545A>T | CA359067716 | SLC6A19 | c.746A>T (p.Asn249Ile) c.654A>T (p.Gln218His) | |
| 5 | g.1213546T>A | CA359067718 | SLC6A19 | c.747T>A (p.Asn249Lys) c.655T>A (p.Trp219Arg) | |
| 5 | g.1213546T>C | CA443019183 | SLC6A19 | c.747T>C (p.Asn249=) c.655T>C (p.Trp219Arg) | gnomAD v4 |
| 5 | g.1213546T>G | CA359067717 | SLC6A19 | c.747T>G (p.Asn249Lys) c.655T>G (p.Trp219Gly) | |
| 5 | g.1213547G>A | CA359067719 | SLC6A19 | c.748G>A (p.Gly250Ser) c.656G>A (p.Trp219Ter) | |
| 5 | g.1213547G>C | CA359067723 | SLC6A19 | c.748G>C (p.Gly250Arg) c.656G>C (p.Trp219Ser) | |
| 5 | g.1213547G>T | CA359067726 | SLC6A19 | c.748G>T (p.Gly250Cys) c.656G>T (p.Trp219Leu) | |
| 5 | g.1213548G>A | CA359067728 | SLC6A19 | c.749G>A (p.Gly250Asp) c.657G>A (p.Trp219Ter) | COSMIC |
| 5 | g.1213548G>C | CA359067730 | SLC6A19 | c.749G>C (p.Gly250Ala) c.657G>C (p.Trp219Cys) | |
| 5 | g.1213548G>T | CA359067732 | SLC6A19 | c.749G>T (p.Gly250Val) c.657G>T (p.Trp219Cys) | COSMIC |
| 5 | g.1213549C>A | CA443019194 | SLC6A19 | c.750C>A (p.Gly250=) c.658C>A (p.His220Asn) | |
| 5 | g.1213549C>G | CA443019196 | SLC6A19 | c.750C>G (p.Gly250=) c.658C>G (p.His220Asp) | |
| 5 | g.1213549C>T | CA443019197 | SLC6A19 | c.750C>T (p.Gly250=) c.658C>T (p.His220Tyr) | |
| 5 | g.1213550A>C | CA359067733 | SLC6A19 | c.751A>C (p.Ile251Leu) c.659A>C (p.His220Pro) | |
| 5 | g.1213550A>G | CA359067735 | SLC6A19 | c.751A>G (p.Ile251Val) c.659A>G (p.His220Arg) | |
| 5 | g.1213550A>T | CA359067737 | SLC6A19 | c.751A>T (p.Ile251Phe) c.659A>T (p.His220Leu) | |
| 5 | g.1213551T>A | CA359067738 | SLC6A19 | c.752T>A (p.Ile251Asn) c.660T>A (p.His220Gln) | |
| 5 | g.1213551T>C | CA359067739 | SLC6A19 | c.752T>C (p.Ile251Thr) c.660T>C (p.His220=) | |
| 5 | g.1213551T>G | CA359067741 | SLC6A19 | c.752T>G (p.Ile251Ser) c.660T>G (p.His220Gln) | |
| 5 | g.1213552C>A | CA443019201 | SLC6A19 | c.753C>A (p.Ile251=) c.661C>A (p.Arg221Ser) | gnomAD v4 |
| 5 | g.1213552C= | CA1522520345 | SLC6A19 | c.753C= (p.Ile251=) c.661C= (p.Arg221=) | |
| 5 | g.1213552C>G | CA3182853 | SLC6A19 | c.753C>G (p.Ile251Met) c.661C>G (p.Arg221Gly) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.1213552C>T | CA3182854 | SLC6A19 | c.753C>T (p.Ile251=) c.661C>T (p.Arg221Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.1213553G>A | CA155259 | SLC6A19 | c.754G>A (p.Val252Ile) c.662G>A (p.Arg221His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213553G>C | CA359067747 | SLC6A19 | c.754G>C (p.Val252Leu) c.662G>C (p.Arg221Pro) | dbSNP |
| 5 | g.1213553G= | CA1522520349 | SLC6A19 | c.754G= (p.Val252=) c.662G= (p.Arg221=) | |
| 5 | g.1213553G>T | CA359067751 | SLC6A19 | c.754G>T (p.Val252Phe) c.662G>T (p.Arg221Leu) | |
| 5 | g.1213554T>A | CA359067753 | SLC6A19 | c.755T>A (p.Val252Asp) c.663T>A (p.Arg221=) | |
| 5 | g.1213554T>C | CA359067754 | SLC6A19 | c.755T>C (p.Val252Ala) c.663T>C (p.Arg221=) | dbSNP |
| 5 | g.1213554T>G | CA359067756 | SLC6A19 | c.755T>G (p.Val252Gly) c.663T>G (p.Arg221=) | |
| 5 | g.1213554T= | CA1522520352 | SLC6A19 | c.755T= (p.Val252=) c.663T= (p.Arg221=) | |
| 5 | g.1213555C>A | CA443019207 | SLC6A19 | c.756C>A (p.Val252=) c.664C>A (p.Leu222Ile) | |
| 5 | g.1213555C>G | CA443019210 | SLC6A19 | c.756C>G (p.Val252=) c.664C>G (p.Leu222Val) | |
| 5 | g.1213555C>T | CA443019206 | SLC6A19 | c.756C>T (p.Val252=) c.664C>T (p.Leu222Phe) | COSMIC |
| 5 | g.1213556T>A | CA359067763 | SLC6A19 | c.757T>A (p.Phe253Ile) c.665T>A (p.Leu222His) | |
| 5 | g.1213556T>C | CA359067759 | SLC6A19 | c.757T>C (p.Phe253Leu) c.665T>C (p.Leu222Pro) | |
| 5 | g.1213556T>G | CA359067761 | SLC6A19 | c.757T>G (p.Phe253Val) c.665T>G (p.Leu222Arg) | |
| 5 | g.1213557T>A | CA359067765 | SLC6A19 | c.758T>A (p.Phe253Tyr) c.666T>A (p.Leu222=) | |
| 5 | g.1213557T>C | CA3182855 | SLC6A19 | c.758T>C (p.Phe253Ser) c.666T>C (p.Leu222=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213557T>G | CA359067766 | SLC6A19 | c.758T>G (p.Phe253Cys) c.666T>G (p.Leu222=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213557T= | CA1522520355 | SLC6A19 | c.758T= (p.Phe253=) c.666T= (p.Leu222=) | |
| 5 | g.1213558C>A | CA359067767 | SLC6A19 | c.759C>A (p.Phe253Leu) c.667C>A (p.Pro223Thr) | COSMIC |
| 5 | g.1213558C>G | CA359067768 | SLC6A19 | c.759C>G (p.Phe253Leu) c.667C>G (p.Pro223Ala) | |
| 5 | g.1213558C>T | CA443019218 | SLC6A19 | c.759C>T (p.Phe253=) c.667C>T (p.Pro223Ser) | COSMIC |
| 5 | g.1213559C>A | CA359067769 | SLC6A19 | c.760C>A (p.Leu254Ile) c.668C>A (p.Pro223His) | |
| 5 | g.1213559C>G | CA359067772 | SLC6A19 | c.760C>G (p.Leu254Val) c.668C>G (p.Pro223Arg) | |
| 5 | g.1213559C>T | CA359067770 | SLC6A19 | c.760C>T (p.Leu254Phe) c.668C>T (p.Pro223Leu) | |
| 5 | g.1213560T>A | CA359067774 | SLC6A19 | c.761T>A (p.Leu254His) c.669T>A (p.Pro223=) | |
| 5 | g.1213560T>C | CA359067776 | SLC6A19 | c.761T>C (p.Leu254Pro) c.669T>C (p.Pro223=) | |
| 5 | g.1213560T>G | CA359067778 | SLC6A19 | c.761T>G (p.Leu254Arg) c.669T>G (p.Pro223=) | |
| 5 | g.1213561C>A | CA443019223 | SLC6A19 | c.762C>A (p.Leu254=) c.670C>A (p.Leu224Ile) | |
| 5 | g.1213561C>G | CA443019224 | SLC6A19 | c.762C>G (p.Leu254=) c.670C>G (p.Leu224Val) | |
| 5 | g.1213561C>T | CA443019225 | SLC6A19 | c.762C>T (p.Leu254=) c.670C>T (p.Leu224Phe) | |
| 5 | g.1213562T>A | CA359067779 | SLC6A19 | c.763T>A (p.Phe255Ile) c.671T>A (p.Leu224His) | |
| 5 | g.1213562T>C | CA359067781 | SLC6A19 | c.763T>C (p.Phe255Leu) c.671T>C (p.Leu224Pro) | |
| 5 | g.1213562T>G | CA359067783 | SLC6A19 | c.763T>G (p.Phe255Val) c.671T>G (p.Leu224Arg) | |
| 5 | g.1213563T>A | CA359067785 | SLC6A19 | c.764T>A (p.Phe255Tyr) c.672T>A (p.Leu224=) | |
| 5 | g.1213563T>C | CA359067787 | SLC6A19 | c.764T>C (p.Phe255Ser) c.672T>C (p.Leu224=) | |
| 5 | g.1213563T>G | CA359067790 | SLC6A19 | c.764T>G (p.Phe255Cys) c.672T>G (p.Leu224=) | |
| 5 | g.1213564C>A | CA359067791 | SLC6A19 | c.765C>A (p.Phe255Leu) c.673C>A (p.His225Asn) | |
| 5 | g.1213564C>G | CA359067793 | SLC6A19 | c.765C>G (p.Phe255Leu) c.673C>G (p.His225Asp) | |
| 5 | g.1213564C>T | CA443019231 | SLC6A19 | c.765C>T (p.Phe255=) c.673C>T (p.His225Tyr) | COSMIC |
| 5 | g.1213565A>C | CA359067799 | SLC6A19 | c.766A>C (p.Thr256Pro) c.674A>C (p.His225Pro) | |
| 5 | g.1213565A>G | CA359067796 | SLC6A19 | c.766A>G (p.Thr256Ala) c.674A>G (p.His225Arg) | |
| 5 | g.1213565A>T | CA359067795 | SLC6A19 | c.766A>T (p.Thr256Ser) c.674A>T (p.His225Leu) | |
| 5 | g.1213566C>A | CA3182857 | SLC6A19 | c.767C>A (p.Thr256Lys) c.675C>A (p.His225Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.1213566C= | CA1522520357 | SLC6A19 | c.767C= (p.Thr256=) c.675C= (p.His225=) | |
| 5 | g.1213566C>G | CA359067803 | SLC6A19 | c.767C>G (p.Thr256Arg) c.675C>G (p.His225Gln) | |
| 5 | g.1213566C>T | CA3182856 | SLC6A19 | c.767C>T (p.Thr256Met) c.675C>T (p.His225=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213567G>A | CA3182859 | SLC6A19 | c.768G>A (p.Thr256=) c.676G>A (p.Ala226Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.1213567G>C | CA443019236 | SLC6A19 | c.768G>C (p.Thr256=) c.676G>C (p.Ala226Pro) | |
| 5 | g.1213567G= | CA1522520363 | SLC6A19 | c.768G= (p.Thr256=) c.676G= (p.Ala226=) | |
| 5 | g.1213567G>T | CA3182858 | SLC6A19 | c.768G>T (p.Thr256=) c.676G>T (p.Ala226Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.1213567_1213568delinsGC | CA1522520362 | SLC6A19 | c.768_769delinsGC (p.Thr256=) c.676_677delinsGC (p.Ala226=) | |
| 5 | g.1213568C>A | CA359067809 | SLC6A19 | c.769C>A (p.Pro257Thr) c.677C>A (p.Ala226Asp) | gnomAD v4 |
| 5 | g.1213568C>G | CA359067811 | SLC6A19 | c.769C>G (p.Pro257Ala) c.677C>G (p.Ala226Gly) | |
| 5 | g.1213568C>T | CA359067813 | SLC6A19 | c.769C>T (p.Pro257Ser) c.677C>T (p.Ala226Val) | |
| 5 | g.1213570del | CA1522520366 | SLC6A19 | c.771del (p.Asn258ThrfsTer?) c.679del (p.Gln227AsnfsTer?) | dbSNP |
| 5 | g.1213569C>A | CA359067816 | SLC6A19 | c.770C>A (p.Pro257His) c.678C>A (p.Ala226=) | |
| 5 | g.1213569C= | CA1522520369 | SLC6A19 | c.770C= (p.Pro257=) c.678C= (p.Ala226=) | |
| 5 | g.1213569C>G | CA359067817 | SLC6A19 | c.770C>G (p.Pro257Arg) c.678C>G (p.Ala226=) | gnomAD v4 |
| 5 | g.1213569C>T | CA359067820 | SLC6A19 | c.770C>T (p.Pro257Leu) c.678C>T (p.Ala226=) | |
| 5 | g.1213569_1213570insAGGGAGGT | CA3182860 | SLC6A19 | c.770_771insAGGGAGGT (p.Asn258GlyfsTer?) c.678_679insAGGGAGGT (p.Gln227ArgfsTer?) | dbSNP ExAC gnomAD v4 |
| 5 | g.1213570C>A | CA443019239 | SLC6A19 | c.771C>A (p.Pro257=) c.679C>A (p.Gln227Lys) | |
| 5 | g.1213570C= | CA1522520373 | SLC6A19 | c.771C= (p.Pro257=) c.679C= (p.Gln227=) | |
| 5 | g.1213570C>G | CA443019240 | SLC6A19 | c.771C>G (p.Pro257=) c.679C>G (p.Gln227Glu) | |
| 5 | g.1213570C>T | CA3182861 | SLC6A19 | c.771C>T (p.Pro257=) c.679C>T (p.Gln227Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.1213571A= | CA1522520378 | SLC6A19 | c.772A= (p.Asn258=) c.680A= (p.Gln227=) | |
| 5 | g.1213571A>C | CA359067824 | SLC6A19 | c.772A>C (p.Asn258His) c.680A>C (p.Gln227Pro) | |
| 5 | g.1213571A>G | CA359067826 | SLC6A19 | c.772A>G (p.Asn258Asp) c.680A>G (p.Gln227Arg) | |
| 5 | g.1213571A>T | CA359067827 | SLC6A19 | c.772A>T (p.Asn258Tyr) c.680A>T (p.Gln227Leu) | |
| 5 | g.1213572dup | CA2673072309 | SLC6A19 | c.773dup (p.Asn258LysfsTer?) c.681dup (p.Arg228ThrfsTer?) | gnomAD v4 |
| 5 | g.1213571_1213572insGGGCTTGAGTTCAAG | CA3182862 | SLC6A19 | c.772_773insGGGCTTGAGTTCAAG (p.Asn258ArgfsTer3) c.680_681insGGGCTTGAGTTCAAG (p.Gln227_Arg228insGlyLeuSerSerArg) | dbSNP ExAC gnomAD v4 |
| 5 | g.1213572A= | CA1522520381 | SLC6A19 | c.773A= (p.Asn258=) c.681A= (p.Gln227=) | |
| 5 | g.1213572A>C | CA359067831 | SLC6A19 | c.773A>C (p.Asn258Thr) c.681A>C (p.Gln227His) | |
| 5 | g.1213572A>G | CA3182863 | SLC6A19 | c.773A>G (p.Asn258Ser) c.681A>G (p.Gln227=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213572A>T | CA112941601 | SLC6A19 | c.773A>T (p.Asn258Ile) c.681A>T (p.Gln227His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213573C>A | CA359067834 | SLC6A19 | c.774C>A (p.Asn258Lys) c.682C>A (p.Arg228Ser) | gnomAD v4 |
| 5 | g.1213573C= | CA1522520384 | SLC6A19 | c.774C= (p.Asn258=) c.682C= (p.Arg228=) | |
| 5 | g.1213573C>G | CA359067836 | SLC6A19 | c.774C>G (p.Asn258Lys) c.682C>G (p.Arg228Gly) | |
| 5 | g.1213573C>T | CA3182864 | SLC6A19 | c.774C>T (p.Asn258=) c.682C>T (p.Arg228Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213573_1213574insCC | CA802930781 | SLC6A19 | c.774_774+1insCC (p.Val259ProfsTer?) c.682_682+1insCC (p.Arg228ProfsTer?) | dbSNP |
| 5 | g.1213573_1213574insACACTGAGCACAGG | CA3182865 | SLC6A19 | c.774_774+1insACACTGAGCACAGG (n.774_774+1insACACTGAGCACAGG) c.682_682+1insACACTGAGCACAGG (n.682_682+1insACACTGAGCACAGG) | dbSNP ExAC gnomAD v4 |
| 5 | g.1213574G>A | CA3182866 | SLC6A19 | c.774+1G>A (n.774+1G>A) c.682+1G>A (n.682+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213574G>C | CA112941603 | SLC6A19 | c.774+1G>C (n.774+1G>C) c.682+1G>C (n.682+1G>C) | dbSNP gnomAD v4 |
| 5 | g.1213574G= | CA1522520388 | SLC6A19 | c.774+1G= (n.774+1G=) c.682+1G= (n.682+1G=) | |
| 5 | g.1213574G>T | CA359067842 | SLC6A19 | c.774+1G>T (n.774+1G>T) c.682+1G>T (n.682+1G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.1213575T>A | CA359067844 | SLC6A19 | c.774+2T>A (n.774+2T>A) c.682+2T>A (n.682+2T>A) | |
| 5 | g.1213575T>C | CA359067847 | SLC6A19 | c.774+2T>C (n.774+2T>C) c.682+2T>C (n.682+2T>C) | |
| 5 | g.1213575T>G | CA359067848 | SLC6A19 | c.774+2T>G (n.774+2T>G) c.682+2T>G (n.682+2T>G) | ClinVar |
| 5 | g.1213575dup | CA443019251 | SLC6A19 | c.774+2dup (n.774+2dup) c.682+2dup (n.682+2dup) | |
| 5 | g.1213575_1213577del | CA2673072310 | SLC6A19 | c.774+2_774+4del (n.774+2_774+4del) c.682+2_682+4del (n.682+2_682+4del) | gnomAD v4 |
| 5 | g.1213576A= | CA1522520389 | SLC6A19 | c.774+3A= (n.774+3A=) c.682+3A= (n.682+3A=) | |
| 5 | g.1213576A>C | CA557557354 | SLC6A19 | c.774+3A>C (n.774+3A>C) c.682+3A>C (n.682+3A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.1213577A>G | CA2673072311 | SLC6A19 | c.774+4A>G (n.774+4A>G) c.682+4A>G (n.682+4A>G) | gnomAD v4 |
| 5 | g.1213578G>A | CA2578258750 | SLC6A19 | c.774+5G>A (n.774+5G>A) c.682+5G>A (n.682+5G>A) | gnomAD v4 |
| 5 | g.1213579T>A | CA3182867 | SLC6A19 | c.774+6T>A (n.774+6T>A) c.682+6T>A (n.682+6T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213579T>G | CA2673072312 | SLC6A19 | c.774+6T>G (n.774+6T>G) c.682+6T>G (n.682+6T>G) | gnomAD v4 |
| 5 | g.1213579T= | CA1522520392 | SLC6A19 | c.774+6T= (n.774+6T=) c.682+6T= (n.682+6T=) | |
| 5 | g.1213579_1213580delinsTC | CA1522520394 | SLC6A19 | c.774+6_774+7delinsTC (n.774+6_774+7delinsTC) c.682+6_682+7delinsTC (n.682+6_682+7delinsTC) | |
| 5 | g.1213580C>A | CA2673072313 | SLC6A19 | c.774+7C>A (n.774+7C>A) c.682+7C>A (n.682+7C>A) | gnomAD v4 |
| 5 | g.1213580C>T | CA2673072314 | SLC6A19 | c.774+7C>T (n.774+7C>T) c.682+7C>T (n.682+7C>T) | gnomAD v4 |
| 5 | g.1213583dup | CA802930804 | SLC6A19 | c.774+10dup (n.774+10dup) c.682+10dup (n.682+10dup) | dbSNP |
| 5 | g.1213583del | CA557557360 | SLC6A19 | c.774+10del (n.774+10del) c.682+10del (n.682+10del) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.1213582C>T | CA2578258755 | SLC6A19 | c.774+9C>T (n.774+9C>T) c.682+9C>T (n.682+9C>T) | ClinVar gnomAD v4 |
| 5 | g.1213583C= | CA1522520401 | SLC6A19 | c.774+10C= (n.774+10C=) c.682+10C= (n.682+10C=) | |
| 5 | g.1213583C>G | CA2673072315 | SLC6A19 | c.774+10C>G (n.774+10C>G) c.682+10C>G (n.682+10C>G) | dbSNP gnomAD v4 |
| 5 | g.1213583C>T | CA3182868 | SLC6A19 | c.774+10C>T (n.774+10C>T) c.682+10C>T (n.682+10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213584G>A | CA3182869 | SLC6A19 | c.774+11G>A (n.774+11G>A) c.682+11G>A (n.682+11G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213584G>C | CA3182870 | SLC6A19 | c.774+11G>C (n.774+11G>C) c.682+11G>C (n.682+11G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213584G= | CA1522520406 | SLC6A19 | c.774+11G= (n.774+11G=) c.682+11G= (n.682+11G=) | |
| 5 | g.1213584G>T | CA649597531 | SLC6A19 | c.774+11G>T (n.774+11G>T) c.682+11G>T (n.682+11G>T) | COSMIC |
| 5 | g.1213585A>C | CA649597532 | SLC6A19 | c.774+12A>C (n.774+12A>C) c.682+12A>C (n.682+12A>C) | COSMIC |
| 5 | g.1213586G>A | CA2765038700 | SLC6A19 | c.774+13G>A (n.774+13G>A) c.682+13G>A (n.682+13G>A) | |
| 5 | g.1213596_1213628del | CA2673072316 | SLC6A19 | c.774+23_774+55del (n.774+23_774+55del) c.682+23_682+55del (n.682+23_682+55del) | gnomAD v4 |
| 5 | g.1213587G>A | CA3182871 | SLC6A19 | c.774+14G>A (n.774+14G>A) c.682+14G>A (n.682+14G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213587G= | CA1522520409 | SLC6A19 | c.774+14G= (n.774+14G=) c.682+14G= (n.682+14G=) | |
| 5 | g.1213588C= | CA1522520411 | SLC6A19 | c.774+15C= (n.774+15C=) c.682+15C= (n.682+15C=) | |
| 5 | g.1213588C>T | CA802930814 | SLC6A19 | c.774+15C>T (n.774+15C>T) c.682+15C>T (n.682+15C>T) | dbSNP |
| 5 | g.1213589T>G | CA2673072317 | SLC6A19 | c.774+16T>G (n.774+16T>G) c.682+16T>G (n.682+16T>G) | gnomAD v4 |
| 5 | g.1213590G>A | CA1522520414 | SLC6A19 | c.774+17G>A (n.774+17G>A) c.682+17G>A (n.682+17G>A) | dbSNP |
| 5 | g.1213590G= | CA1522520413 | SLC6A19 | c.774+17G= (n.774+17G=) c.682+17G= (n.682+17G=) | |
| 5 | g.1213591C= | CA1522520415 | SLC6A19 | c.774+18C= (n.774+18C=) c.682+18C= (n.682+18C=) | |
| 5 | g.1213591C>T | CA3182872 | SLC6A19 | c.774+18C>T (n.774+18C>T) c.682+18C>T (n.682+18C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.1213593del | CA2578258759 | SLC6A19 | c.774+20del (n.774+20del) c.682+20del (n.682+20del) | |
| 5 | g.1213592C= | CA1522520417 | SLC6A19 | c.774+19C= (n.774+19C=) c.682+19C= (n.682+19C=) | |
| 5 | g.1213592C>G | CA2673072318 | SLC6A19 | c.774+19C>G (n.774+19C>G) c.682+19C>G (n.682+19C>G) | gnomAD v4 |
| 5 | g.1213592C>T | CA3182873 | SLC6A19 | c.774+19C>T (n.774+19C>T) c.682+19C>T (n.682+19C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213593C>T | CA2765038701 | SLC6A19 | c.774+20C>T (n.774+20C>T) c.682+20C>T (n.682+20C>T) | |
| 5 | g.1213595G>A | CA2673072319 | SLC6A19 | c.774+22G>A (n.774+22G>A) c.682+22G>A (n.682+22G>A) | gnomAD v4 |
| 5 | g.1213595G>C | CA2578258760 | SLC6A19 | c.774+22G>C (n.774+22G>C) c.682+22G>C (n.682+22G>C) | gnomAD v4 |
| 5 | g.1213597G>T | CA649597533 | SLC6A19 | c.774+24G>T (n.774+24G>T) c.682+24G>T (n.682+24G>T) | gnomAD v4 COSMIC COSMIC |
| 5 | g.1213598C= | CA1522520419 | SLC6A19 | c.774+25C= (n.774+25C=) c.682+25C= (n.682+25C=) | |
| 5 | g.1213598C>T | CA557557378 | SLC6A19 | c.774+25C>T (n.774+25C>T) c.682+25C>T (n.682+25C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.1213599C>A | CA2578258761 | SLC6A19 | c.774+26C>A (n.774+26C>A) c.682+26C>A (n.682+26C>A) | |
| 5 | g.1213600C>A | CA2578258762 | SLC6A19 | c.774+27C>A (n.774+27C>A) c.682+27C>A (n.682+27C>A) | |
| 5 | g.1213600C= | CA1522520421 | SLC6A19 | c.774+27C= (n.774+27C=) c.682+27C= (n.682+27C=) | |
| 5 | g.1213600C>T | CA3182874 | SLC6A19 | c.774+27C>T (n.774+27C>T) c.682+27C>T (n.682+27C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213601A= | CA1522520423 | SLC6A19 | c.774+28A= (n.774+28A=) c.682+28A= (n.682+28A=) | |
| 5 | g.1213601A>C | CA2765038702 | SLC6A19 | c.774+28A>C (n.774+28A>C) c.682+28A>C (n.682+28A>C) | |
| 5 | g.1213601A>G | CA3182875 | SLC6A19 | c.774+28A>G (n.774+28A>G) c.682+28A>G (n.682+28A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213602G>C | CA2502021022 | SLC6A19 | c.774+29G>C (n.774+29G>C) c.682+29G>C (n.682+29G>C) | |
| 5 | g.1213602G>T | CA2673072320 | SLC6A19 | c.774+29G>T (n.774+29G>T) c.682+29G>T (n.682+29G>T) | gnomAD v4 |
| 5 | g.1213603A>G | CA2673072321 | SLC6A19 | c.774+30A>G (n.774+30A>G) c.682+30A>G (n.682+30A>G) | gnomAD v4 |
| 5 | g.1213604C>A | CA3182876 | SLC6A19 | c.774+31C>A (n.774+31C>A) c.682+31C>A (n.682+31C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213604C= | CA1522520425 | SLC6A19 | c.774+31C= (n.774+31C=) c.682+31C= (n.682+31C=) | |
| 5 | g.1213604C>G | CA2673072322 | SLC6A19 | c.774+31C>G (n.774+31C>G) c.682+31C>G (n.682+31C>G) | gnomAD v4 |
| 5 | g.1213604C>T | CA2578258763 | SLC6A19 | c.774+31C>T (n.774+31C>T) c.682+31C>T (n.682+31C>T) | |
| 5 | g.1213605C>A | CA3182877 | SLC6A19 | c.774+32C>A (n.774+32C>A) c.682+32C>A (n.682+32C>A) | dbSNP ExAC gnomAD v4 |
| 5 | g.1213605C= | CA1522520426 | SLC6A19 | c.774+32C= (n.774+32C=) c.682+32C= (n.682+32C=) | |
| 5 | g.1213606C= | CA1522520428 | SLC6A19 | c.774+33C= (n.774+33C=) c.682+33C= (n.682+33C=) | |
| 5 | g.1213606C>T | CA3182878 | SLC6A19 | c.774+33C>T (n.774+33C>T) c.682+33C>T (n.682+33C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213607C>A | CA2673072323 | SLC6A19 | c.774+34C>A (n.774+34C>A) c.682+34C>A (n.682+34C>A) | gnomAD v4 |
| 5 | g.1213607C= | CA1522520430 | SLC6A19 | c.774+34C= (n.774+34C=) c.682+34C= (n.682+34C=) | |
| 5 | g.1213607C>T | CA3182879 | SLC6A19 | c.774+34C>T (n.774+34C>T) c.682+34C>T (n.682+34C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213608G>A | CA3182880 | SLC6A19 | c.774+35G>A (n.774+35G>A) c.682+35G>A (n.682+35G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213608G= | CA1522520431 | SLC6A19 | c.774+35G= (n.774+35G=) c.682+35G= (n.682+35G=) | |
| 5 | g.1213608G>T | CA557557387 | SLC6A19 | c.774+35G>T (n.774+35G>T) c.682+35G>T (n.682+35G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213609G>A | CA2673072324 | SLC6A19 | c.774+36G>A (n.774+36G>A) c.682+36G>A (n.682+36G>A) | gnomAD v4 |
| 5 | g.1213610G>A | CA2673072325 | SLC6A19 | c.774+37G>A (n.774+37G>A) c.682+37G>A (n.682+37G>A) | gnomAD v4 |
| 5 | g.1213611A= | CA1522520434 | SLC6A19 | c.774+38A= (n.774+38A=) c.682+38A= (n.682+38A=) | |
| 5 | g.1213611A>G | CA557557389 | SLC6A19 | c.774+38A>G (n.774+38A>G) c.682+38A>G (n.682+38A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.1213612G>A | CA2673072326 | SLC6A19 | c.774+39G>A (n.774+39G>A) c.682+39G>A (n.682+39G>A) | gnomAD v4 |
| 5 | g.1213612G>C | CA3182881 | SLC6A19 | c.774+39G>C (n.774+39G>C) c.682+39G>C (n.682+39G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.1213612G= | CA1522520436 | SLC6A19 | c.774+39G= (n.774+39G=) c.682+39G= (n.682+39G=) | |
| 5 | g.1213613A= | CA1522520438 | SLC6A19 | c.774+40A= (n.774+40A=) c.682+40A= (n.682+40A=) | |
| 5 | g.1213613A>G | CA557557392 | SLC6A19 | c.774+40A>G (n.774+40A>G) c.682+40A>G (n.682+40A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1213614G>A | CA2673072327 | SLC6A19 | c.774+41G>A (n.774+41G>A) c.682+41G>A (n.682+41G>A) | gnomAD v4 |
| 5 | g.1213614G>C | CA2673072328 | SLC6A19 | c.774+41G>C (n.774+41G>C) c.682+41G>C (n.682+41G>C) | gnomAD v4 |
| 5 | g.1213615G>A | CA2673072329 | SLC6A19 | c.774+42G>A (n.774+42G>A) c.682+42G>A (n.682+42G>A) | gnomAD v4 |
| 5 | g.1213616C= | CA1522520439 | SLC6A19 | c.774+43C= (n.774+43C=) c.682+43C= (n.682+43C=) | |
| 5 | g.1213616C>T | CA802930842 | SLC6A19 | c.774+43C>T (n.774+43C>T) c.682+43C>T (n.682+43C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1213617C>A | CA2673072330 | SLC6A19 | c.774+44C>A (n.774+44C>A) c.682+44C>A (n.682+44C>A) | gnomAD v4 |
| 5 | g.1213618T>G | CA1522520442 | SLC6A19 | c.774+45T>G (n.774+45T>G) c.682+45T>G (n.682+45T>G) | dbSNP gnomAD v4 |
| 5 | g.1213618T= | CA1522520441 | SLC6A19 | c.774+45T= (n.774+45T=) c.682+45T= (n.682+45T=) | |
| 5 | g.1213619G>A | CA3182882 | SLC6A19 | c.774+46G>A (n.774+46G>A) c.682+46G>A (n.682+46G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.1213619G>C | CA2578258764 | SLC6A19 | c.774+46G>C (n.774+46G>C) c.682+46G>C (n.682+46G>C) | |
| 5 | g.1213619G= | CA1522520444 | SLC6A19 | c.774+46G= (n.774+46G=) c.682+46G= (n.682+46G=) | |
| 5 | g.1213620G>A | CA2578258765 | SLC6A19 | c.774+47G>A (n.774+47G>A) c.682+47G>A (n.682+47G>A) | |
| 5 | g.1213621C>A | CA2578258766 | SLC6A19 | c.774+48C>A (n.774+48C>A) c.682+48C>A (n.682+48C>A) | gnomAD v4 |
| 5 | g.1213621C= | CA1522520445 | SLC6A19 | c.774+48C= (n.774+48C=) c.682+48C= (n.682+48C=) | |
| 5 | g.1213621C>T | CA557557394 | SLC6A19 | c.774+48C>T (n.774+48C>T) c.682+48C>T (n.682+48C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.1213622T>G | CA2673072331 | SLC6A19 | c.774+49T>G (n.774+49T>G) c.682+49T>G (n.682+49T>G) | gnomAD v4 |
| 5 | g.1213622_1213623delinsTG | CA1522520448 | SLC6A19 | c.774+49_774+50delinsTG (n.774+49_774+50delinsTG) c.682+49_682+50delinsTG (n.682+49_682+50delinsTG) | |
| 5 | g.1213623del | CA3182883 | SLC6A19 | c.774+50del (n.774+50del) c.682+50del (n.682+50del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.1213623G>A | CA2578258767 | SLC6A19 | c.774+50G>A (n.774+50G>A) c.682+50G>A (n.682+50G>A) | gnomAD v4 |