| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.107245583C>A | CA365323094 | PDSS2 | c.667G>T (p.Val223Leu) c.532G>T (p.Val178Leu) c.259G>T (p.Val87Leu) | gnomAD v4 |
| 6 | g.107245583C= | CA1653773757 | PDSS2 | c.667G= (p.Val223=) c.532G= (p.Val178=) c.259G= (p.Val87=) | |
| 6 | g.107245583C>G | CA365323095 | PDSS2 | c.667G>C (p.Val223Leu) c.532G>C (p.Val178Leu) c.259G>C (p.Val87Leu) | COSMIC |
| 6 | g.107245583C>T | CA321989 | PDSS2 | c.667G>A (p.Val223Ile) c.532G>A (p.Val178Ile) c.259G>A (p.Val87Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.107245584C>A | CA365323096 | PDSS2 | c.666G>T (p.Leu222Phe) c.531G>T (p.Leu177Phe) c.258G>T (p.Leu86Phe) | |
| 6 | g.107245584C>G | CA365323097 | PDSS2 | c.666G>C (p.Leu222Phe) c.531G>C (p.Leu177Phe) c.258G>C (p.Leu86Phe) | |
| 6 | g.107245584C>T | CA451564280 | PDSS2 | c.666G>A (p.Leu222=) c.531G>A (p.Leu177=) c.258G>A (p.Leu86=) | gnomAD v4 |
| 6 | g.107245585A>C | CA365323098 | PDSS2 | c.665T>G (p.Leu222Trp) c.530T>G (p.Leu177Trp) c.257T>G (p.Leu86Trp) | |
| 6 | g.107245585A>G | CA365323099 | PDSS2 | c.665T>C (p.Leu222Ser) c.530T>C (p.Leu177Ser) c.257T>C (p.Leu86Ser) | gnomAD v4 |
| 6 | g.107245585A>T | CA365323100 | PDSS2 | c.665T>A (p.Leu222Ter) c.530T>A (p.Leu177Ter) c.257T>A (p.Leu86Ter) | |
| 6 | g.107245586A>C | CA365323101 | PDSS2 | c.664T>G (p.Leu222Val) c.529T>G (p.Leu177Val) c.256T>G (p.Leu86Val) | |
| 6 | g.107245586A>G | CA451564288 | PDSS2 | c.664T>C (p.Leu222=) c.529T>C (p.Leu177=) c.256T>C (p.Leu86=) | |
| 6 | g.107245586A>T | CA365323102 | PDSS2 | c.664T>A (p.Leu222Met) c.529T>A (p.Leu177Met) c.256T>A (p.Leu86Met) | |
| 6 | g.107245587G>A | CA451564294 | PDSS2 | c.663C>T (p.Asp221=) c.528C>T (p.Asp176=) c.255C>T (p.Asp85=) | gnomAD v4 |
| 6 | g.107245587G>C | CA365323103 | PDSS2 | c.663C>G (p.Asp221Glu) c.528C>G (p.Asp176Glu) c.255C>G (p.Asp85Glu) | gnomAD v4 |
| 6 | g.107245587G>T | CA365323104 | PDSS2 | c.663C>A (p.Asp221Glu) c.528C>A (p.Asp176Glu) c.255C>A (p.Asp85Glu) | gnomAD v4 |
| 6 | g.107245588T>A | CA365323105 | PDSS2 | c.662A>T (p.Asp221Val) c.527A>T (p.Asp176Val) c.254A>T (p.Asp85Val) | |
| 6 | g.107245588T>C | CA365323106 | PDSS2 | c.662A>G (p.Asp221Gly) c.527A>G (p.Asp176Gly) c.254A>G (p.Asp85Gly) | gnomAD v4 |
| 6 | g.107245588T>G | CA365323107 | PDSS2 | c.662A>C (p.Asp221Ala) c.527A>C (p.Asp176Ala) c.254A>C (p.Asp85Ala) | |
| 6 | g.107245589C>A | CA365323108 | PDSS2 | c.661G>T (p.Asp221Tyr) c.526G>T (p.Asp176Tyr) c.253G>T (p.Asp85Tyr) | |
| 6 | g.107245589C= | CA1653773760 | PDSS2 | c.661G= (p.Asp221=) c.526G= (p.Asp176=) c.253G= (p.Asp85=) | |
| 6 | g.107245589C>G | CA365323109 | PDSS2 | c.661G>C (p.Asp221His) c.526G>C (p.Asp176His) c.253G>C (p.Asp85His) | |
| 6 | g.107245589C>T | CA3946055 | PDSS2 | c.661G>A (p.Asp221Asn) c.526G>A (p.Asp176Asn) c.253G>A (p.Asp85Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.107245590C>A | CA365323110 | PDSS2 | c.660G>T (p.Met220Ile) c.525G>T (p.Met175Ile) c.252G>T (p.Met84Ile) | |
| 6 | g.107245590C>G | CA365323112 | PDSS2 | c.660G>C (p.Met220Ile) c.525G>C (p.Met175Ile) c.252G>C (p.Met84Ile) | |
| 6 | g.107245590C>T | CA365323111 | PDSS2 | c.660G>A (p.Met220Ile) c.525G>A (p.Met175Ile) c.252G>A (p.Met84Ile) | gnomAD v4 |
| 6 | g.107245591A= | CA1653773762 | PDSS2 | c.659T= (p.Met220=) c.524T= (p.Met175=) c.251T= (p.Met84=) | |
| 6 | g.107245591A>C | CA365323113 | PDSS2 | c.659T>G (p.Met220Arg) c.524T>G (p.Met175Arg) c.251T>G (p.Met84Arg) | |
| 6 | g.107245591A>G | CA365323114 | PDSS2 | c.659T>C (p.Met220Thr) c.524T>C (p.Met175Thr) c.251T>C (p.Met84Thr) | dbSNP gnomAD v4 |
| 6 | g.107245591A>T | CA365323115 | PDSS2 | c.659T>A (p.Met220Lys) c.524T>A (p.Met175Lys) c.251T>A (p.Met84Lys) | gnomAD v4 |
| 6 | g.107245592T>A | CA365323116 | PDSS2 | c.658A>T (p.Met220Leu) c.523A>T (p.Met175Leu) c.250A>T (p.Met84Leu) | |
| 6 | g.107245592T>C | CA365323117 | PDSS2 | c.658A>G (p.Met220Val) c.523A>G (p.Met175Val) c.250A>G (p.Met84Val) | |
| 6 | g.107245592T>G | CA365323118 | PDSS2 | c.658A>C (p.Met220Leu) c.523A>C (p.Met175Leu) c.250A>C (p.Met84Leu) | |
| 6 | g.107245593A>C | CA451564312 | PDSS2 | c.657T>G (p.Leu219=) c.522T>G (p.Leu174=) c.249T>G (p.Leu83=) | |
| 6 | g.107245593A>G | CA451564315 | PDSS2 | c.657T>C (p.Leu219=) c.522T>C (p.Leu174=) c.249T>C (p.Leu83=) | gnomAD v4 |
| 6 | g.107245593A>T | CA451564317 | PDSS2 | c.657T>A (p.Leu219=) c.522T>A (p.Leu174=) c.249T>A (p.Leu83=) | |
| 6 | g.107245594A>C | CA365323119 | PDSS2 | c.656T>G (p.Leu219Arg) c.521T>G (p.Leu174Arg) c.248T>G (p.Leu83Arg) | |
| 6 | g.107245594A>G | CA365323120 | PDSS2 | c.656T>C (p.Leu219Pro) c.521T>C (p.Leu174Pro) c.248T>C (p.Leu83Pro) | gnomAD v4 |
| 6 | g.107245594A>T | CA365323121 | PDSS2 | c.656T>A (p.Leu219His) c.521T>A (p.Leu174His) c.248T>A (p.Leu83His) | |
| 6 | g.107245595G>A | CA365323122 | PDSS2 | c.655C>T (p.Leu219Phe) c.520C>T (p.Leu174Phe) c.247C>T (p.Leu83Phe) | gnomAD v4 |
| 6 | g.107245595G>C | CA365323123 | PDSS2 | c.655C>G (p.Leu219Val) c.520C>G (p.Leu174Val) c.247C>G (p.Leu83Val) | gnomAD v4 |
| 6 | g.107245595G>T | CA365323124 | PDSS2 | c.655C>A (p.Leu219Ile) c.520C>A (p.Leu174Ile) c.247C>A (p.Leu83Ile) | |
| 6 | g.107245596A>C | CA451564322 | PDSS2 | c.654T>G (p.Ala218=) c.519T>G (p.Ala173=) c.246T>G (p.Ala82=) | |
| 6 | g.107245596A>G | CA451564324 | PDSS2 | c.654T>C (p.Ala218=) c.519T>C (p.Ala173=) c.246T>C (p.Ala82=) | gnomAD v4 |
| 6 | g.107245596A>T | CA451564325 | PDSS2 | c.654T>A (p.Ala218=) c.519T>A (p.Ala173=) c.246T>A (p.Ala82=) | |
| 6 | g.107245597G>A | CA365323127 | PDSS2 | c.653C>T (p.Ala218Val) c.518C>T (p.Ala173Val) c.245C>T (p.Ala82Val) | gnomAD v4 |
| 6 | g.107245597G>C | CA365323125 | PDSS2 | c.653C>G (p.Ala218Gly) c.518C>G (p.Ala173Gly) c.245C>G (p.Ala82Gly) | |
| 6 | g.107245597G>T | CA365323126 | PDSS2 | c.653C>A (p.Ala218Asp) c.518C>A (p.Ala173Asp) c.245C>A (p.Ala82Asp) | gnomAD v4 |
| 6 | g.107245598C>A | CA365323128 | PDSS2 | c.652G>T (p.Ala218Ser) c.517G>T (p.Ala173Ser) c.244G>T (p.Ala82Ser) | |
| 6 | g.107245598C= | CA1653773765 | PDSS2 | c.652G= (p.Ala218=) c.517G= (p.Ala173=) c.244G= (p.Ala82=) |