| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.71756749C>A | CA357204712 | GC | c.997G>T (p.Asp333Tyr) n.881G>T c.1054G>T (p.Asp352Tyr) | |
| 4 | g.71756749C>G | CA357204713 | GC | c.997G>C (p.Asp333His) n.881G>C c.1054G>C (p.Asp352His) | |
| 4 | g.71756749C>T | CA357204714 | GC | c.997G>A (p.Asp333Asn) n.881G>A c.1054G>A (p.Asp352Asn) | |
| 4 | g.71756749_71756753delinsCTTTG | CA1467373185 | GC | c.993_997delinsCAAAG (p.Asn331=) n.877_881delinsCAAAG c.1050_1054delinsCAAAG (p.Asn350=) | |
| 4 | g.71756750T>A | CA357204715 | GC | c.996A>T (p.Lys332Asn) n.880A>T c.1053A>T (p.Lys351Asn) | |
| 4 | g.71756750T>C | CA2955525 | GC | c.996A>G (p.Lys332=) n.880A>G c.1053A>G (p.Lys351=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71756750T>G | CA357204716 | GC | c.996A>C (p.Lys332Asn) n.880A>C c.1053A>C (p.Lys351Asn) | |
| 4 | g.71756750T= | CA1467373186 | GC | c.996A= (p.Lys332=) n.880A= c.1053A= (p.Lys351=) | |
| 4 | g.71756755_71756758del | CA917223489 | GC | c.993_996del (p.Asn331LysfsTer19) n.877_880del c.1050_1053del (p.Asn350LysfsTer19) c.993_996del (p.Asn331LysfsTer26) | dbSNP gnomAD v4 |
| 4 | g.71756751T>A | CA357204719 | GC | c.995A>T (p.Lys332Ile) n.879A>T c.1052A>T (p.Lys351Ile) | |
| 4 | g.71756751T>C | CA357204717 | GC | c.995A>G (p.Lys332Arg) n.879A>G c.1052A>G (p.Lys351Arg) | |
| 4 | g.71756751T>G | CA357204718 | GC | c.995A>C (p.Lys332Thr) n.879A>C c.1052A>C (p.Lys351Thr) | |
| 4 | g.71756752T>A | CA357204720 | GC | c.994A>T (p.Lys332Ter) n.878A>T c.1051A>T (p.Lys351Ter) | |
| 4 | g.71756752T>C | CA357204721 | GC | c.994A>G (p.Lys332Glu) n.878A>G c.1051A>G (p.Lys351Glu) | |
| 4 | g.71756752T>G | CA357204722 | GC | c.994A>C (p.Lys332Gln) n.878A>C c.1051A>C (p.Lys351Gln) | |
| 4 | g.71756753G>A | CA439795769 | GC | c.993C>T (p.Asn331=) n.877C>T c.1050C>T (p.Asn350=) | dbSNP gnomAD v4 |
| 4 | g.71756753G>C | CA2955526 | GC | c.993C>G (p.Asn331Lys) n.877C>G c.1050C>G (p.Asn350Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71756753G= | CA1467373187 | GC | c.993C= (p.Asn331=) n.877C= c.1050C= (p.Asn350=) | |
| 4 | g.71756753G>T | CA357204723 | GC | c.993C>A (p.Asn331Lys) n.877C>A c.1050C>A (p.Asn350Lys) | gnomAD v4 |
| 4 | g.71756754T>A | CA357204726 | GC | c.992A>T (p.Asn331Ile) n.876A>T c.1049A>T (p.Asn350Ile) | |
| 4 | g.71756754T>C | CA357204725 | GC | c.992A>G (p.Asn331Ser) n.876A>G c.1049A>G (p.Asn350Ser) | |
| 4 | g.71756754T>G | CA357204724 | GC | c.992A>C (p.Asn331Thr) n.876A>C c.1049A>C (p.Asn350Thr) | |
| 4 | g.71756755T>A | CA357204727 | GC | c.991A>T (p.Asn331Tyr) n.875A>T c.1048A>T (p.Asn350Tyr) | |
| 4 | g.71756755T>C | CA357204728 | GC | c.991A>G (p.Asn331Asp) n.875A>G c.1048A>G (p.Asn350Asp) | dbSNP |
| 4 | g.71756755T>G | CA357204729 | GC | c.991A>C (p.Asn331His) n.875A>C c.1048A>C (p.Asn350His) | dbSNP |
| 4 | g.71756755T= | CA1467373188 | GC | c.991A= (p.Asn331=) n.875A= c.1048A= (p.Asn350=) | |
| 4 | g.71756756T>A | CA439795770 | GC | c.990A>T (p.Thr330=) n.874A>T c.1047A>T (p.Thr349=) | gnomAD v4 |
| 4 | g.71756756T>C | CA439795771 | GC | c.990A>G (p.Thr330=) n.874A>G c.1047A>G (p.Thr349=) | |
| 4 | g.71756756T>G | CA439795772 | GC | c.990A>C (p.Thr330=) n.874A>C c.1047A>C (p.Thr349=) | |
| 4 | g.71756757G>A | CA2955527 | GC | c.989C>T (p.Thr330Ile) n.873C>T c.1046C>T (p.Thr349Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71756757G>C | CA357204730 | GC | c.989C>G (p.Thr330Arg) n.873C>G c.1046C>G (p.Thr349Arg) | gnomAD v4 |
| 4 | g.71756757G= | CA1467373189 | GC | c.989C= (p.Thr330=) n.873C= c.1046C= (p.Thr349=) | |
| 4 | g.71756757G>T | CA357204731 | GC | c.989C>A (p.Thr330Lys) n.873C>A c.1046C>A (p.Thr349Lys) | |
| 4 | g.71756758T>A | CA357204732 | GC | c.988A>T (p.Thr330Ser) n.872A>T c.1045A>T (p.Thr349Ser) | |
| 4 | g.71756758T>C | CA357204734 | GC | c.988A>G (p.Thr330Ala) n.872A>G c.1045A>G (p.Thr349Ala) | |
| 4 | g.71756758T>G | CA357204733 | GC | c.988A>C (p.Thr330Pro) n.872A>C c.1045A>C (p.Thr349Pro) | |
| 4 | g.71756759G>A | CA439795773 | GC | c.987C>T (p.Pro329=) n.871C>T c.1044C>T (p.Pro348=) | |
| 4 | g.71756759G>C | CA439795774 | GC | c.987C>G (p.Pro329=) n.871C>G c.1044C>G (p.Pro348=) | |
| 4 | g.71756759G>T | CA439795775 | GC | c.987C>A (p.Pro329=) n.871C>A c.1044C>A (p.Pro348=) | |
| 4 | g.71756760G>A | CA357204735 | GC | c.986C>T (p.Pro329Leu) n.870C>T c.1043C>T (p.Pro348Leu) | |
| 4 | g.71756760G>C | CA357204736 | GC | c.986C>G (p.Pro329Arg) n.870C>G c.1043C>G (p.Pro348Arg) | |
| 4 | g.71756760G>T | CA357204737 | GC | c.986C>A (p.Pro329His) n.870C>A c.1043C>A (p.Pro348His) | |
| 4 | g.71756761G>A | CA357204738 | GC | c.985C>T (p.Pro329Ser) n.869C>T c.1042C>T (p.Pro348Ser) | |
| 4 | g.71756761G>C | CA357204739 | GC | c.985C>G (p.Pro329Ala) n.869C>G c.1042C>G (p.Pro348Ala) | |
| 4 | g.71756761G>T | CA357204740 | GC | c.985C>A (p.Pro329Thr) n.869C>A c.1042C>A (p.Pro348Thr) | |
| 4 | g.71756762C>A | CA357204741 | GC | c.984G>T (p.Leu328Phe) n.868G>T c.1041G>T (p.Leu347Phe) | |
| 4 | g.71756762C>G | CA357204742 | GC | c.984G>C (p.Leu328Phe) n.868G>C c.1041G>C (p.Leu347Phe) | |
| 4 | g.71756762C>T | CA439795776 | GC | c.984G>A (p.Leu328=) n.868G>A c.1041G>A (p.Leu347=) | |
| 4 | g.71756763A>C | CA357204743 | GC | c.983T>G (p.Leu328Trp) n.867T>G c.1040T>G (p.Leu347Trp) | gnomAD v4 |
| 4 | g.71756763A>G | CA357204744 | GC | c.983T>C (p.Leu328Ser) n.867T>C c.1040T>C (p.Leu347Ser) |