| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.45772503A= | CA1361819832 | SLC6A20 | c.693+2T= (n.693+2T=) c.583-1045T= (n.583-1045T=) c.552+2T= (n.552+2T=) c.396+2T= (n.396+2T=) | |
| 3 | g.45772503A>C | CA352453745 | SLC6A20 | c.693+2T>G (n.693+2T>G) c.583-1045T>G (n.583-1045T>G) c.552+2T>G (n.552+2T>G) c.396+2T>G (n.396+2T>G) | |
| 3 | g.45772503A>G | CA352453742 | SLC6A20 | c.693+2T>C (n.693+2T>C) c.583-1045T>C (n.583-1045T>C) c.552+2T>C (n.552+2T>C) c.396+2T>C (n.396+2T>C) | dbSNP |
| 3 | g.45772503A>T | CA352453744 | SLC6A20 | c.693+2T>A (n.693+2T>A) c.583-1045T>A (n.583-1045T>A) c.552+2T>A (n.552+2T>A) c.396+2T>A (n.396+2T>A) | dbSNP gnomAD v4 |
| 3 | g.45772504C>A | CA352453747 | SLC6A20 | c.693+1G>T (n.693+1G>T) c.583-1046G>T (n.583-1046G>T) c.552+1G>T (n.552+1G>T) c.396+1G>T (n.396+1G>T) | gnomAD v4 |
| 3 | g.45772504C>G | CA352453753 | SLC6A20 | c.693+1G>C (n.693+1G>C) c.583-1046G>C (n.583-1046G>C) c.552+1G>C (n.552+1G>C) c.396+1G>C (n.396+1G>C) | |
| 3 | g.45772504C>T | CA352453754 | SLC6A20 | c.693+1G>A (n.693+1G>A) c.583-1046G>A (n.583-1046G>A) c.552+1G>A (n.552+1G>A) c.396+1G>A (n.396+1G>A) | |
| 3 | g.45772505C>A | CA352453755 | SLC6A20 | c.693G>T (p.Lys231Asn) c.583-1047G>T (n.583-1047G>T) c.552G>T (p.Lys184Asn) c.396G>T (p.Lys132Asn) | |
| 3 | g.45772505C>G | CA352453757 | SLC6A20 | c.693G>C (p.Lys231Asn) c.583-1047G>C (n.583-1047G>C) c.552G>C (p.Lys184Asn) c.396G>C (p.Lys132Asn) | gnomAD v4 |
| 3 | g.45772505C>T | CA433447618 | SLC6A20 | c.693G>A (p.Lys231=) c.583-1047G>A (n.583-1047G>A) c.552G>A (p.Lys184=) c.396G>A (p.Lys132=) | |
| 3 | g.45772506T>A | CA352453759 | SLC6A20 | c.692A>T (p.Lys231Met) c.583-1048A>T (n.583-1048A>T) c.551A>T (p.Lys184Met) c.395A>T (p.Lys132Met) | |
| 3 | g.45772506T>C | CA352453761 | SLC6A20 | c.692A>G (p.Lys231Arg) c.583-1048A>G (n.583-1048A>G) c.551A>G (p.Lys184Arg) c.395A>G (p.Lys132Arg) | |
| 3 | g.45772506T>G | CA352453763 | SLC6A20 | c.692A>C (p.Lys231Thr) c.583-1048A>C (n.583-1048A>C) c.551A>C (p.Lys184Thr) c.395A>C (p.Lys132Thr) | |
| 3 | g.45772507T>A | CA352453766 | SLC6A20 | c.691A>T (p.Lys231Ter) c.583-1049A>T (n.583-1049A>T) c.550A>T (p.Lys184Ter) c.394A>T (p.Lys132Ter) | |
| 3 | g.45772507T>C | CA352453770 | SLC6A20 | c.691A>G (p.Lys231Glu) c.583-1049A>G (n.583-1049A>G) c.550A>G (p.Lys184Glu) c.394A>G (p.Lys132Glu) | gnomAD v4 |
| 3 | g.45772507T>G | CA352453772 | SLC6A20 | c.691A>C (p.Lys231Gln) c.583-1049A>C (n.583-1049A>C) c.550A>C (p.Lys184Gln) c.394A>C (p.Lys132Gln) | |
| 3 | g.45772508G>A | CA433447619 | SLC6A20 | c.690C>T (p.Pro230=) c.583-1050C>T (n.583-1050C>T) c.549C>T (p.Pro183=) c.393C>T (p.Pro131=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.45772508G>C | CA433447620 | SLC6A20 | c.690C>G (p.Pro230=) c.583-1050C>G (n.583-1050C>G) c.549C>G (p.Pro183=) c.393C>G (p.Pro131=) | |
| 3 | g.45772508G= | CA1361819833 | SLC6A20 | c.690C= (p.Pro230=) c.583-1050C= (n.583-1050C=) c.549C= (p.Pro183=) c.393C= (p.Pro131=) | |
| 3 | g.45772508G>T | CA433447621 | SLC6A20 | c.690C>A (p.Pro230=) c.583-1050C>A (n.583-1050C>A) c.549C>A (p.Pro183=) c.393C>A (p.Pro131=) | |
| 3 | g.45772509G>A | CA352453789 | SLC6A20 | c.689C>T (p.Pro230Leu) c.583-1051C>T (n.583-1051C>T) c.548C>T (p.Pro183Leu) c.392C>T (p.Pro131Leu) | |
| 3 | g.45772509G>C | CA352453788 | SLC6A20 | c.689C>G (p.Pro230Arg) c.583-1051C>G (n.583-1051C>G) c.548C>G (p.Pro183Arg) c.392C>G (p.Pro131Arg) | |
| 3 | g.45772509G>T | CA352453774 | SLC6A20 | c.689C>A (p.Pro230His) c.583-1051C>A (n.583-1051C>A) c.548C>A (p.Pro183His) c.392C>A (p.Pro131His) | |
| 3 | g.45772510G>A | CA352453793 | SLC6A20 | c.688C>T (p.Pro230Ser) c.583-1052C>T (n.583-1052C>T) c.547C>T (p.Pro183Ser) c.391C>T (p.Pro131Ser) | |
| 3 | g.45772510G>C | CA352453794 | SLC6A20 | c.688C>G (p.Pro230Ala) c.583-1052C>G (n.583-1052C>G) c.547C>G (p.Pro183Ala) c.391C>G (p.Pro131Ala) | |
| 3 | g.45772510G>T | CA352453796 | SLC6A20 | c.688C>A (p.Pro230Thr) c.583-1052C>A (n.583-1052C>A) c.547C>A (p.Pro183Thr) c.391C>A (p.Pro131Thr) | |
| 3 | g.45772511A>C | CA433447622 | SLC6A20 | c.687T>G (p.Thr229=) c.583-1053T>G (n.583-1053T>G) c.546T>G (p.Thr182=) c.390T>G (p.Thr130=) | |
| 3 | g.45772511A>G | CA433447623 | SLC6A20 | c.687T>C (p.Thr229=) c.583-1053T>C (n.583-1053T>C) c.546T>C (p.Thr182=) c.390T>C (p.Thr130=) | |
| 3 | g.45772511A>T | CA433447624 | SLC6A20 | c.687T>A (p.Thr229=) c.583-1053T>A (n.583-1053T>A) c.546T>A (p.Thr182=) c.390T>A (p.Thr130=) | |
| 3 | g.45772512G>A | CA2351530 | SLC6A20 | c.686C>T (p.Thr229Ile) c.583-1054C>T (n.583-1054C>T) c.545C>T (p.Thr182Ile) c.389C>T (p.Thr130Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.45772512G>C | CA352453805 | SLC6A20 | c.686C>G (p.Thr229Ser) c.583-1054C>G (n.583-1054C>G) c.545C>G (p.Thr182Ser) c.389C>G (p.Thr130Ser) | |
| 3 | g.45772512G= | CA1361819835 | SLC6A20 | c.686C= (p.Thr229=) c.583-1054C= (n.583-1054C=) c.545C= (p.Thr182=) c.389C= (p.Thr130=) | |
| 3 | g.45772512G>T | CA352453806 | SLC6A20 | c.686C>A (p.Thr229Asn) c.583-1054C>A (n.583-1054C>A) c.545C>A (p.Thr182Asn) c.389C>A (p.Thr130Asn) | |
| 3 | g.45772513T>A | CA352453809 | SLC6A20 | c.685A>T (p.Thr229Ser) c.583-1055A>T (n.583-1055A>T) c.544A>T (p.Thr182Ser) c.388A>T (p.Thr130Ser) | gnomAD v4 |
| 3 | g.45772513T>C | CA352453811 | SLC6A20 | c.685A>G (p.Thr229Ala) c.583-1055A>G (n.583-1055A>G) c.544A>G (p.Thr182Ala) c.388A>G (p.Thr130Ala) | |
| 3 | g.45772513T>G | CA352453813 | SLC6A20 | c.685A>C (p.Thr229Pro) c.583-1055A>C (n.583-1055A>C) c.544A>C (p.Thr182Pro) c.388A>C (p.Thr130Pro) | |
| 3 | g.45772514G>A | CA433447625 | SLC6A20 | c.684C>T (p.Phe228=) c.583-1056C>T (n.583-1056C>T) c.543C>T (p.Phe181=) c.387C>T (p.Phe129=) | dbSNP |
| 3 | g.45772514G>C | CA352453814 | SLC6A20 | c.684C>G (p.Phe228Leu) c.583-1056C>G (n.583-1056C>G) c.543C>G (p.Phe181Leu) c.387C>G (p.Phe129Leu) | |
| 3 | g.45772514G= | CA1361819837 | SLC6A20 | c.684C= (p.Phe228=) c.583-1056C= (n.583-1056C=) c.543C= (p.Phe181=) c.387C= (p.Phe129=) | |
| 3 | g.45772514G>T | CA352453817 | SLC6A20 | c.684C>A (p.Phe228Leu) c.583-1056C>A (n.583-1056C>A) c.543C>A (p.Phe181Leu) c.387C>A (p.Phe129Leu) | |
| 3 | g.45772515A>C | CA352453819 | SLC6A20 | c.683T>G (p.Phe228Cys) c.583-1057T>G (n.583-1057T>G) c.542T>G (p.Phe181Cys) c.386T>G (p.Phe129Cys) | |
| 3 | g.45772515A>G | CA352453820 | SLC6A20 | c.683T>C (p.Phe228Ser) c.583-1057T>C (n.583-1057T>C) c.542T>C (p.Phe181Ser) c.386T>C (p.Phe129Ser) | |
| 3 | g.45772515A>T | CA352453822 | SLC6A20 | c.683T>A (p.Phe228Tyr) c.583-1057T>A (n.583-1057T>A) c.542T>A (p.Phe181Tyr) c.386T>A (p.Phe129Tyr) | gnomAD v4 |
| 3 | g.45772516A>C | CA352453824 | SLC6A20 | c.682T>G (p.Phe228Val) c.583-1058T>G (n.583-1058T>G) c.541T>G (p.Phe181Val) c.385T>G (p.Phe129Val) | |
| 3 | g.45772516A>G | CA352453825 | SLC6A20 | c.682T>C (p.Phe228Leu) c.583-1058T>C (n.583-1058T>C) c.541T>C (p.Phe181Leu) c.385T>C (p.Phe129Leu) | gnomAD v4 |
| 3 | g.45772516A>T | CA352453823 | SLC6A20 | c.682T>A (p.Phe228Ile) c.583-1058T>A (n.583-1058T>A) c.541T>A (p.Phe181Ile) c.385T>A (p.Phe129Ile) | |
| 3 | g.45772517C>A | CA352453827 | SLC6A20 | c.681G>T (p.Met227Ile) c.583-1059G>T (n.583-1059G>T) c.540G>T (p.Met180Ile) c.384G>T (p.Met128Ile) | gnomAD v4 |
| 3 | g.45772517C>G | CA352453829 | SLC6A20 | c.681G>C (p.Met227Ile) c.583-1059G>C (n.583-1059G>C) c.540G>C (p.Met180Ile) c.384G>C (p.Met128Ile) | |
| 3 | g.45772517C>T | CA352453832 | SLC6A20 | c.681G>A (p.Met227Ile) c.583-1059G>A (n.583-1059G>A) c.540G>A (p.Met180Ile) c.384G>A (p.Met128Ile) | |
| 3 | g.45772518A>C | CA352453840 | SLC6A20 | c.680T>G (p.Met227Arg) c.583-1060T>G (n.583-1060T>G) c.539T>G (p.Met180Arg) c.383T>G (p.Met128Arg) |