| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209632677T>A | CA344594546 | LAMB3 | c.728A>T (p.Gln243Leu) c.536A>T (p.Gln179Leu) | |
| 1 | g.209632677T>C | CA344594548 | LAMB3 | c.728A>G (p.Gln243Arg) c.536A>G (p.Gln179Arg) | dbSNP |
| 1 | g.209632677T>G | CA344594552 | LAMB3 | c.728A>C (p.Gln243Pro) c.536A>C (p.Gln179Pro) | |
| 1 | g.209632677T= | CA2484301997 | LAMB3 | c.728A= (p.Gln243=) c.536A= (p.Gln179=) | |
| 1 | g.209632678G>A | CA341658 | LAMB3 | c.727C>T (p.Gln243Ter) c.535C>T (p.Gln179Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209632678G>C | CA344594554 | LAMB3 | c.727C>G (p.Gln243Glu) c.535C>G (p.Gln179Glu) | gnomAD v4 |
| 1 | g.209632678G= | CA1141188135 | LAMB3 | c.727C= (p.Gln243=) c.535C= (p.Gln179=) | |
| 1 | g.209632678G>T | CA344594557 | LAMB3 | c.727C>A (p.Gln243Lys) c.535C>A (p.Gln179Lys) | |
| 1 | g.209632680del | CA2650322127 | LAMB3 | c.727del (p.Gln243SerfsTer?) c.535del (p.Gln179SerfsTer?) | gnomAD v4 |
| 1 | g.209632679G>A | CA423032647 | LAMB3 | c.726C>T (p.Ser242=) c.534C>T (p.Ser178=) | |
| 1 | g.209632679G>C | CA423032648 | LAMB3 | c.726C>G (p.Ser242=) c.534C>G (p.Ser178=) | dbSNP gnomAD v4 |
| 1 | g.209632679G>T | CA423032649 | LAMB3 | c.726C>A (p.Ser242=) c.534C>A (p.Ser178=) | |
| 1 | g.209632680G>A | CA344594560 | LAMB3 | c.725C>T (p.Ser242Phe) c.533C>T (p.Ser178Phe) | gnomAD v4 |
| 1 | g.209632680G>C | CA344594562 | LAMB3 | c.725C>G (p.Ser242Cys) c.533C>G (p.Ser178Cys) | |
| 1 | g.209632680G>T | CA344594564 | LAMB3 | c.725C>A (p.Ser242Tyr) c.533C>A (p.Ser178Tyr) | |
| 1 | g.209632681A>C | CA344594567 | LAMB3 | c.724T>G (p.Ser242Ala) c.532T>G (p.Ser178Ala) | |
| 1 | g.209632681A>G | CA344594569 | LAMB3 | c.724T>C (p.Ser242Pro) c.532T>C (p.Ser178Pro) | |
| 1 | g.209632681A>T | CA344594571 | LAMB3 | c.724T>A (p.Ser242Thr) c.532T>A (p.Ser178Thr) | |
| 1 | g.209632682C>A | CA423032652 | LAMB3 | c.723G>T (p.Val241=) c.531G>T (p.Val177=) | |
| 1 | g.209632682C>G | CA423032651 | LAMB3 | c.723G>C (p.Val241=) c.531G>C (p.Val177=) | gnomAD v4 |
| 1 | g.209632682C>T | CA423032650 | LAMB3 | c.723G>A (p.Val241=) c.531G>A (p.Val177=) | |
| 1 | g.209632682_209632690delinsCACAGCATA | CA2484301998 | LAMB3 | c.715_723delinsTATGCTGTG (p.Tyr239=) c.523_531delinsTATGCTGTG (p.Tyr175=) | |
| 1 | g.209632683A>C | CA344594584 | LAMB3 | c.722T>G (p.Val241Gly) c.530T>G (p.Val177Gly) | |
| 1 | g.209632683A>G | CA344594575 | LAMB3 | c.722T>C (p.Val241Ala) c.530T>C (p.Val177Ala) | gnomAD v4 |
| 1 | g.209632683A>T | CA344594587 | LAMB3 | c.722T>A (p.Val241Glu) c.530T>A (p.Val177Glu) | |
| 1 | g.209632683_209632690del | CA1375863 | LAMB3 | c.715_722del (p.Tyr239ValfsTer16) c.523_530del (p.Tyr175ValfsTer16) | dbSNP ExAC gnomAD v2 |
| 1 | g.209632684C>A | CA344594589 | LAMB3 | c.721G>T (p.Val241Leu) c.529G>T (p.Val177Leu) | |
| 1 | g.209632684C= | CA2484301999 | LAMB3 | c.721G= (p.Val241=) c.529G= (p.Val177=) | |
| 1 | g.209632684C>G | CA344594591 | LAMB3 | c.721G>C (p.Val241Leu) c.529G>C (p.Val177Leu) | |
| 1 | g.209632684C>T | CA1375864 | LAMB3 | c.721G>A (p.Val241Met) c.529G>A (p.Val177Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.209632685A>C | CA423032653 | LAMB3 | c.720T>G (p.Ala240=) c.528T>G (p.Ala176=) | |
| 1 | g.209632685A>G | CA423032654 | LAMB3 | c.720T>C (p.Ala240=) c.528T>C (p.Ala176=) | gnomAD v4 |
| 1 | g.209632685A>T | CA423032655 | LAMB3 | c.720T>A (p.Ala240=) c.528T>A (p.Ala176=) | |
| 1 | g.209632686G>A | CA344594597 | LAMB3 | c.719C>T (p.Ala240Val) c.527C>T (p.Ala176Val) | |
| 1 | g.209632686G>C | CA344594602 | LAMB3 | c.719C>G (p.Ala240Gly) c.527C>G (p.Ala176Gly) | |
| 1 | g.209632686G>T | CA344594605 | LAMB3 | c.719C>A (p.Ala240Asp) c.527C>A (p.Ala176Asp) | |
| 1 | g.209632687C>A | CA344594610 | LAMB3 | c.718G>T (p.Ala240Ser) c.526G>T (p.Ala176Ser) | |
| 1 | g.209632687C>G | CA344594611 | LAMB3 | c.718G>C (p.Ala240Pro) c.526G>C (p.Ala176Pro) | |
| 1 | g.209632687C>T | CA344594613 | LAMB3 | c.718G>A (p.Ala240Thr) c.526G>A (p.Ala176Thr) | |
| 1 | g.209632688A>C | CA344594616 | LAMB3 | c.717T>G (p.Tyr239Ter) c.525T>G (p.Tyr175Ter) | |
| 1 | g.209632688A>G | CA423032656 | LAMB3 | c.717T>C (p.Tyr239=) c.525T>C (p.Tyr175=) | |
| 1 | g.209632688A>T | CA344594617 | LAMB3 | c.717T>A (p.Tyr239Ter) c.525T>A (p.Tyr175Ter) | |
| 1 | g.209632689T>A | CA344594625 | LAMB3 | c.716A>T (p.Tyr239Phe) c.524A>T (p.Tyr175Phe) | |
| 1 | g.209632689T>C | CA344594621 | LAMB3 | c.716A>G (p.Tyr239Cys) c.524A>G (p.Tyr175Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.209632689T>G | CA344594623 | LAMB3 | c.716A>C (p.Tyr239Ser) c.524A>C (p.Tyr175Ser) | |
| 1 | g.209632689T= | CA2484302000 | LAMB3 | c.716A= (p.Tyr239=) c.524A= (p.Tyr175=) | |
| 1 | g.209632690A>C | CA344594628 | LAMB3 | c.715T>G (p.Tyr239Asp) c.523T>G (p.Tyr175Asp) | |
| 1 | g.209632690A>G | CA344594631 | LAMB3 | c.715T>C (p.Tyr239His) c.523T>C (p.Tyr175His) | |
| 1 | g.209632690A>T | CA344594634 | LAMB3 | c.715T>A (p.Tyr239Asn) c.523T>A (p.Tyr175Asn) | |
| 1 | g.209632691G>A | CA423032657 | LAMB3 | c.714C>T (p.Tyr238=) c.522C>T (p.Tyr174=) |