| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.46411840C>A | CA513174040 | PCNT | n.112C>A c.5800C>A (p.Arg1934=) c.*5010C>A (n.*5010C>A) c.5767C>A (p.Arg1923=) n.6036C>A c.5413C>A (p.Arg1805=) c.5878C>A (p.Arg1960=) c.5848C>A (p.Arg1950=) c.5446C>A (p.Arg1816=) c.4684C>A (p.Arg1562=) c.3580C>A (p.Arg1194=) | gnomAD v4 |
| 21 | g.46411840C= | CA2392665085 | PCNT | n.112C= c.5800C= (p.Arg1934=) c.*5010C= (n.*5010C=) c.5767C= (p.Arg1923=) n.6036C= c.5413C= (p.Arg1805=) c.5878C= (p.Arg1960=) c.5848C= (p.Arg1950=) c.5446C= (p.Arg1816=) c.4684C= (p.Arg1562=) c.3580C= (p.Arg1194=) | |
| 21 | g.46411840C>G | CA410556670 | PCNT | n.112C>G c.5800C>G (p.Arg1934Gly) c.*5010C>G (n.*5010C>G) c.5767C>G (p.Arg1923Gly) n.6036C>G c.5413C>G (p.Arg1805Gly) c.5878C>G (p.Arg1960Gly) c.5848C>G (p.Arg1950Gly) c.5446C>G (p.Arg1816Gly) c.4684C>G (p.Arg1562Gly) c.3580C>G (p.Arg1194Gly) | |
| 21 | g.46411840C>T | CA250510 | PCNT | n.112C>T c.5800C>T (p.Arg1934Ter) c.*5010C>T (n.*5010C>T) c.5767C>T (p.Arg1923Ter) n.6036C>T c.5413C>T (p.Arg1805Ter) c.5878C>T (p.Arg1960Ter) c.5848C>T (p.Arg1950Ter) c.5446C>T (p.Arg1816Ter) c.4684C>T (p.Arg1562Ter) c.3580C>T (p.Arg1194Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.46411841G>A | CA10080086 | PCNT | n.113G>A c.5801G>A (p.Arg1934Gln) c.*5011G>A (n.*5011G>A) c.5768G>A (p.Arg1923Gln) n.6037G>A c.5414G>A (p.Arg1805Gln) c.5879G>A (p.Arg1960Gln) c.5849G>A (p.Arg1950Gln) c.5447G>A (p.Arg1816Gln) c.4685G>A (p.Arg1562Gln) c.3581G>A (p.Arg1194Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.46411841G>C | CA410556676 | PCNT | n.113G>C c.5801G>C (p.Arg1934Pro) c.*5011G>C (n.*5011G>C) c.5768G>C (p.Arg1923Pro) n.6037G>C c.5414G>C (p.Arg1805Pro) c.5879G>C (p.Arg1960Pro) c.5849G>C (p.Arg1950Pro) c.5447G>C (p.Arg1816Pro) c.4685G>C (p.Arg1562Pro) c.3581G>C (p.Arg1194Pro) | |
| 21 | g.46411841G= | CA2392665086 | PCNT | n.113G= c.5801G= (p.Arg1934=) c.*5011G= (n.*5011G=) c.5768G= (p.Arg1923=) n.6037G= c.5414G= (p.Arg1805=) c.5879G= (p.Arg1960=) c.5849G= (p.Arg1950=) c.5447G= (p.Arg1816=) c.4685G= (p.Arg1562=) c.3581G= (p.Arg1194=) | |
| 21 | g.46411841G>T | CA321998169 | PCNT | n.113G>T c.5801G>T (p.Arg1934Leu) c.*5011G>T (n.*5011G>T) c.5768G>T (p.Arg1923Leu) n.6037G>T c.5414G>T (p.Arg1805Leu) c.5879G>T (p.Arg1960Leu) c.5849G>T (p.Arg1950Leu) c.5447G>T (p.Arg1816Leu) c.4685G>T (p.Arg1562Leu) c.3581G>T (p.Arg1194Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.46411842A>C | CA513174041 | PCNT | n.114A>C c.5802A>C (p.Arg1934=) c.*5012A>C (n.*5012A>C) c.5769A>C (p.Arg1923=) n.6038A>C c.5415A>C (p.Arg1805=) c.5880A>C (p.Arg1960=) c.5850A>C (p.Arg1950=) c.5448A>C (p.Arg1816=) c.4686A>C (p.Arg1562=) c.3582A>C (p.Arg1194=) | |
| 21 | g.46411842A>G | CA513174042 | PCNT | n.114A>G c.5802A>G (p.Arg1934=) c.*5012A>G (n.*5012A>G) c.5769A>G (p.Arg1923=) n.6038A>G c.5415A>G (p.Arg1805=) c.5880A>G (p.Arg1960=) c.5850A>G (p.Arg1950=) c.5448A>G (p.Arg1816=) c.4686A>G (p.Arg1562=) c.3582A>G (p.Arg1194=) | |
| 21 | g.46411842A>T | CA513174044 | PCNT | n.114A>T c.5802A>T (p.Arg1934=) c.*5012A>T (n.*5012A>T) c.5769A>T (p.Arg1923=) n.6038A>T c.5415A>T (p.Arg1805=) c.5880A>T (p.Arg1960=) c.5850A>T (p.Arg1950=) c.5448A>T (p.Arg1816=) c.4686A>T (p.Arg1562=) c.3582A>T (p.Arg1194=) | |
| 21 | g.46411843G>A | CA410556683 | PCNT | n.115G>A c.5803G>A (p.Ala1935Thr) c.*5013G>A (n.*5013G>A) c.5770G>A (p.Ala1924Thr) n.6039G>A c.5416G>A (p.Ala1806Thr) c.5881G>A (p.Ala1961Thr) c.5851G>A (p.Ala1951Thr) c.5449G>A (p.Ala1817Thr) c.4687G>A (p.Ala1563Thr) c.3583G>A (p.Ala1195Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.46411843G>C | CA410556687 | PCNT | n.115G>C c.5803G>C (p.Ala1935Pro) c.*5013G>C (n.*5013G>C) c.5770G>C (p.Ala1924Pro) n.6039G>C c.5416G>C (p.Ala1806Pro) c.5881G>C (p.Ala1961Pro) c.5851G>C (p.Ala1951Pro) c.5449G>C (p.Ala1817Pro) c.4687G>C (p.Ala1563Pro) c.3583G>C (p.Ala1195Pro) | |
| 21 | g.46411843G= | CA2392665087 | PCNT | n.115G= c.5803G= (p.Ala1935=) c.*5013G= (n.*5013G=) c.5770G= (p.Ala1924=) n.6039G= c.5416G= (p.Ala1806=) c.5881G= (p.Ala1961=) c.5851G= (p.Ala1951=) c.5449G= (p.Ala1817=) c.4687G= (p.Ala1563=) c.3583G= (p.Ala1195=) | |
| 21 | g.46411843G>T | CA410556698 | PCNT | n.115G>T c.5803G>T (p.Ala1935Ser) c.*5013G>T (n.*5013G>T) c.5770G>T (p.Ala1924Ser) n.6039G>T c.5416G>T (p.Ala1806Ser) c.5881G>T (p.Ala1961Ser) c.5851G>T (p.Ala1951Ser) c.5449G>T (p.Ala1817Ser) c.4687G>T (p.Ala1563Ser) c.3583G>T (p.Ala1195Ser) | |
| 21 | g.46411844C>A | CA410556710 | PCNT | n.116C>A c.5804C>A (p.Ala1935Glu) c.*5014C>A (n.*5014C>A) c.5771C>A (p.Ala1924Glu) n.6040C>A c.5417C>A (p.Ala1806Glu) c.5882C>A (p.Ala1961Glu) c.5852C>A (p.Ala1951Glu) c.5450C>A (p.Ala1817Glu) c.4688C>A (p.Ala1563Glu) c.3584C>A (p.Ala1195Glu) | gnomAD v4 |
| 21 | g.46411844C= | CA2392665088 | PCNT | n.116C= c.5804C= (p.Ala1935=) c.*5014C= (n.*5014C=) c.5771C= (p.Ala1924=) n.6040C= c.5417C= (p.Ala1806=) c.5882C= (p.Ala1961=) c.5852C= (p.Ala1951=) c.5450C= (p.Ala1817=) c.4688C= (p.Ala1563=) c.3584C= (p.Ala1195=) | |
| 21 | g.46411844C>G | CA410556712 | PCNT | n.116C>G c.5804C>G (p.Ala1935Gly) c.*5014C>G (n.*5014C>G) c.5771C>G (p.Ala1924Gly) n.6040C>G c.5417C>G (p.Ala1806Gly) c.5882C>G (p.Ala1961Gly) c.5852C>G (p.Ala1951Gly) c.5450C>G (p.Ala1817Gly) c.4688C>G (p.Ala1563Gly) c.3584C>G (p.Ala1195Gly) | gnomAD v4 |
| 21 | g.46411844C>T | CA148447 | PCNT | n.116C>T c.5804C>T (p.Ala1935Val) c.*5014C>T (n.*5014C>T) c.5771C>T (p.Ala1924Val) n.6040C>T c.5417C>T (p.Ala1806Val) c.5882C>T (p.Ala1961Val) c.5852C>T (p.Ala1951Val) c.5450C>T (p.Ala1817Val) c.4688C>T (p.Ala1563Val) c.3584C>T (p.Ala1195Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.46411845G>A | CA10080087 | PCNT | n.117G>A c.5805G>A (p.Ala1935=) c.*5015G>A (n.*5015G>A) c.5772G>A (p.Ala1924=) n.6041G>A c.5418G>A (p.Ala1806=) c.5883G>A (p.Ala1961=) c.5853G>A (p.Ala1951=) c.5451G>A (p.Ala1817=) c.4689G>A (p.Ala1563=) c.3585G>A (p.Ala1195=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.46411845G>C | CA513174047 | PCNT | n.117G>C c.5805G>C (p.Ala1935=) c.*5015G>C (n.*5015G>C) c.5772G>C (p.Ala1924=) n.6041G>C c.5418G>C (p.Ala1806=) c.5883G>C (p.Ala1961=) c.5853G>C (p.Ala1951=) c.5451G>C (p.Ala1817=) c.4689G>C (p.Ala1563=) c.3585G>C (p.Ala1195=) | |
| 21 | g.46411845G= | CA2392665089 | PCNT | n.117G= c.5805G= (p.Ala1935=) c.*5015G= (n.*5015G=) c.5772G= (p.Ala1924=) n.6041G= c.5418G= (p.Ala1806=) c.5883G= (p.Ala1961=) c.5853G= (p.Ala1951=) c.5451G= (p.Ala1817=) c.4689G= (p.Ala1563=) c.3585G= (p.Ala1195=) | |
| 21 | g.46411845G>T | CA513174048 | PCNT | n.117G>T c.5805G>T (p.Ala1935=) c.*5015G>T (n.*5015G>T) c.5772G>T (p.Ala1924=) n.6041G>T c.5418G>T (p.Ala1806=) c.5883G>T (p.Ala1961=) c.5853G>T (p.Ala1951=) c.5451G>T (p.Ala1817=) c.4689G>T (p.Ala1563=) c.3585G>T (p.Ala1195=) | ClinVar gnomAD v4 |
| 21 | g.46411846C>A | CA410556717 | PCNT | n.118C>A c.5806C>A (p.Gln1936Lys) c.*5016C>A (n.*5016C>A) c.5773C>A (p.Gln1925Lys) n.6042C>A c.5419C>A (p.Gln1807Lys) c.5884C>A (p.Gln1962Lys) c.5854C>A (p.Gln1952Lys) c.5452C>A (p.Gln1818Lys) c.4690C>A (p.Gln1564Lys) c.3586C>A (p.Gln1196Lys) | gnomAD v4 |
| 21 | g.46411846C= | CA2392665090 | PCNT | n.118C= c.5806C= (p.Gln1936=) c.*5016C= (n.*5016C=) c.5773C= (p.Gln1925=) n.6042C= c.5419C= (p.Gln1807=) c.5884C= (p.Gln1962=) c.5854C= (p.Gln1952=) c.5452C= (p.Gln1818=) c.4690C= (p.Gln1564=) c.3586C= (p.Gln1196=) | |
| 21 | g.46411846C>G | CA410556720 | PCNT | n.118C>G c.5806C>G (p.Gln1936Glu) c.*5016C>G (n.*5016C>G) c.5773C>G (p.Gln1925Glu) n.6042C>G c.5419C>G (p.Gln1807Glu) c.5884C>G (p.Gln1962Glu) c.5854C>G (p.Gln1952Glu) c.5452C>G (p.Gln1818Glu) c.4690C>G (p.Gln1564Glu) c.3586C>G (p.Gln1196Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.46411846C>T | CA410556727 | PCNT | n.118C>T c.5806C>T (p.Gln1936Ter) c.*5016C>T (n.*5016C>T) c.5773C>T (p.Gln1925Ter) n.6042C>T c.5419C>T (p.Gln1807Ter) c.5884C>T (p.Gln1962Ter) c.5854C>T (p.Gln1952Ter) c.5452C>T (p.Gln1818Ter) c.4690C>T (p.Gln1564Ter) c.3586C>T (p.Gln1196Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.46411847A= | CA2392665091 | PCNT | n.119A= c.5807A= (p.Gln1936=) c.*5017A= (n.*5017A=) c.5774A= (p.Gln1925=) n.6043A= c.5420A= (p.Gln1807=) c.5885A= (p.Gln1962=) c.5855A= (p.Gln1952=) c.5453A= (p.Gln1818=) c.4691A= (p.Gln1564=) c.3587A= (p.Gln1196=) | |
| 21 | g.46411847A>C | CA251090 | PCNT | n.119A>C c.5807A>C (p.Gln1936Pro) c.*5017A>C (n.*5017A>C) c.5774A>C (p.Gln1925Pro) n.6043A>C c.5420A>C (p.Gln1807Pro) c.5885A>C (p.Gln1962Pro) c.5855A>C (p.Gln1952Pro) c.5453A>C (p.Gln1818Pro) c.4691A>C (p.Gln1564Pro) c.3587A>C (p.Gln1196Pro) | ClinVar dbSNP |
| 21 | g.46411847A>G | CA410556735 | PCNT | n.119A>G c.5807A>G (p.Gln1936Arg) c.*5017A>G (n.*5017A>G) c.5774A>G (p.Gln1925Arg) n.6043A>G c.5420A>G (p.Gln1807Arg) c.5885A>G (p.Gln1962Arg) c.5855A>G (p.Gln1952Arg) c.5453A>G (p.Gln1818Arg) c.4691A>G (p.Gln1564Arg) c.3587A>G (p.Gln1196Arg) | |
| 21 | g.46411847A>T | CA410556739 | PCNT | n.119A>T c.5807A>T (p.Gln1936Leu) c.*5017A>T (n.*5017A>T) c.5774A>T (p.Gln1925Leu) n.6043A>T c.5420A>T (p.Gln1807Leu) c.5885A>T (p.Gln1962Leu) c.5855A>T (p.Gln1952Leu) c.5453A>T (p.Gln1818Leu) c.4691A>T (p.Gln1564Leu) c.3587A>T (p.Gln1196Leu) | gnomAD v4 |
| 21 | g.46411848G>A | CA321998176 | PCNT | n.120G>A c.5808G>A (p.Gln1936=) c.*5018G>A (n.*5018G>A) c.5775G>A (p.Gln1925=) n.6044G>A c.5421G>A (p.Gln1807=) c.5886G>A (p.Gln1962=) c.5856G>A (p.Gln1952=) c.5454G>A (p.Gln1818=) c.4692G>A (p.Gln1564=) c.3588G>A (p.Gln1196=) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.46411848G>C | CA410556743 | PCNT | n.120G>C c.5808G>C (p.Gln1936His) c.*5018G>C (n.*5018G>C) c.5775G>C (p.Gln1925His) n.6044G>C c.5421G>C (p.Gln1807His) c.5886G>C (p.Gln1962His) c.5856G>C (p.Gln1952His) c.5454G>C (p.Gln1818His) c.4692G>C (p.Gln1564His) c.3588G>C (p.Gln1196His) | gnomAD v4 |
| 21 | g.46411848G= | CA2392665092 | PCNT | n.120G= c.5808G= (p.Gln1936=) c.*5018G= (n.*5018G=) c.5775G= (p.Gln1925=) n.6044G= c.5421G= (p.Gln1807=) c.5886G= (p.Gln1962=) c.5856G= (p.Gln1952=) c.5454G= (p.Gln1818=) c.4692G= (p.Gln1564=) c.3588G= (p.Gln1196=) | |
| 21 | g.46411848G>T | CA410556746 | PCNT | n.120G>T c.5808G>T (p.Gln1936His) c.*5018G>T (n.*5018G>T) c.5775G>T (p.Gln1925His) n.6044G>T c.5421G>T (p.Gln1807His) c.5886G>T (p.Gln1962His) c.5856G>T (p.Gln1952His) c.5454G>T (p.Gln1818His) c.4692G>T (p.Gln1564His) c.3588G>T (p.Gln1196His) | |
| 21 | g.46411849T>A | CA410556756 | PCNT | n.121T>A c.5809T>A (p.Cys1937Ser) c.*5019T>A (n.*5019T>A) c.5776T>A (p.Cys1926Ser) n.6045T>A c.5422T>A (p.Cys1808Ser) c.5887T>A (p.Cys1963Ser) c.5857T>A (p.Cys1953Ser) c.5455T>A (p.Cys1819Ser) c.4693T>A (p.Cys1565Ser) c.3589T>A (p.Cys1197Ser) | |
| 21 | g.46411849T>C | CA410556750 | PCNT | n.121T>C c.5809T>C (p.Cys1937Arg) c.*5019T>C (n.*5019T>C) c.5776T>C (p.Cys1926Arg) n.6045T>C c.5422T>C (p.Cys1808Arg) c.5887T>C (p.Cys1963Arg) c.5857T>C (p.Cys1953Arg) c.5455T>C (p.Cys1819Arg) c.4693T>C (p.Cys1565Arg) c.3589T>C (p.Cys1197Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.46411849T>G | CA410556749 | PCNT | n.121T>G c.5809T>G (p.Cys1937Gly) c.*5019T>G (n.*5019T>G) c.5776T>G (p.Cys1926Gly) n.6045T>G c.5422T>G (p.Cys1808Gly) c.5887T>G (p.Cys1963Gly) c.5857T>G (p.Cys1953Gly) c.5455T>G (p.Cys1819Gly) c.4693T>G (p.Cys1565Gly) c.3589T>G (p.Cys1197Gly) | |
| 21 | g.46411849T= | CA2392665093 | PCNT | n.121T= c.5809T= (p.Cys1937=) c.*5019T= (n.*5019T=) c.5776T= (p.Cys1926=) n.6045T= c.5422T= (p.Cys1808=) c.5887T= (p.Cys1963=) c.5857T= (p.Cys1953=) c.5455T= (p.Cys1819=) c.4693T= (p.Cys1565=) c.3589T= (p.Cys1197=) | |
| 21 | g.46411850G>A | CA410556761 | PCNT | n.122G>A c.5810G>A (p.Cys1937Tyr) c.*5020G>A (n.*5020G>A) c.5777G>A (p.Cys1926Tyr) n.6046G>A c.5423G>A (p.Cys1808Tyr) c.5888G>A (p.Cys1963Tyr) c.5858G>A (p.Cys1953Tyr) c.5456G>A (p.Cys1819Tyr) c.4694G>A (p.Cys1565Tyr) c.3590G>A (p.Cys1197Tyr) | gnomAD v4 |
| 21 | g.46411850G>C | CA410556764 | PCNT | n.122G>C c.5810G>C (p.Cys1937Ser) c.*5020G>C (n.*5020G>C) c.5777G>C (p.Cys1926Ser) n.6046G>C c.5423G>C (p.Cys1808Ser) c.5888G>C (p.Cys1963Ser) c.5858G>C (p.Cys1953Ser) c.5456G>C (p.Cys1819Ser) c.4694G>C (p.Cys1565Ser) c.3590G>C (p.Cys1197Ser) | |
| 21 | g.46411850G>T | CA410556769 | PCNT | n.122G>T c.5810G>T (p.Cys1937Phe) c.*5020G>T (n.*5020G>T) c.5777G>T (p.Cys1926Phe) n.6046G>T c.5423G>T (p.Cys1808Phe) c.5888G>T (p.Cys1963Phe) c.5858G>T (p.Cys1953Phe) c.5456G>T (p.Cys1819Phe) c.4694G>T (p.Cys1565Phe) c.3590G>T (p.Cys1197Phe) | |
| 21 | g.46411851T>A | CA410556772 | PCNT | n.123T>A c.5811T>A (p.Cys1937Ter) c.*5021T>A (n.*5021T>A) c.5778T>A (p.Cys1926Ter) n.6047T>A c.5424T>A (p.Cys1808Ter) c.5889T>A (p.Cys1963Ter) c.5859T>A (p.Cys1953Ter) c.5457T>A (p.Cys1819Ter) c.4695T>A (p.Cys1565Ter) c.3591T>A (p.Cys1197Ter) | |
| 21 | g.46411851T>C | CA513174053 | PCNT | n.123T>C c.5811T>C (p.Cys1937=) c.*5021T>C (n.*5021T>C) c.5778T>C (p.Cys1926=) n.6047T>C c.5424T>C (p.Cys1808=) c.5889T>C (p.Cys1963=) c.5859T>C (p.Cys1953=) c.5457T>C (p.Cys1819=) c.4695T>C (p.Cys1565=) c.3591T>C (p.Cys1197=) | |
| 21 | g.46411851T>G | CA410556777 | PCNT | n.123T>G c.5811T>G (p.Cys1937Trp) c.*5021T>G (n.*5021T>G) c.5778T>G (p.Cys1926Trp) n.6047T>G c.5424T>G (p.Cys1808Trp) c.5889T>G (p.Cys1963Trp) c.5859T>G (p.Cys1953Trp) c.5457T>G (p.Cys1819Trp) c.4695T>G (p.Cys1565Trp) c.3591T>G (p.Cys1197Trp) | |
| 21 | g.46411852G>A | CA410556789 | PCNT | n.124G>A c.5812G>A (p.Ala1938Thr) c.*5022G>A (n.*5022G>A) c.5779G>A (p.Ala1927Thr) n.6048G>A c.5425G>A (p.Ala1809Thr) c.5890G>A (p.Ala1964Thr) c.5860G>A (p.Ala1954Thr) c.5458G>A (p.Ala1820Thr) c.4696G>A (p.Ala1566Thr) c.3592G>A (p.Ala1198Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.46411852G>C | CA410556786 | PCNT | n.124G>C c.5812G>C (p.Ala1938Pro) c.*5022G>C (n.*5022G>C) c.5779G>C (p.Ala1927Pro) n.6048G>C c.5425G>C (p.Ala1809Pro) c.5890G>C (p.Ala1964Pro) c.5860G>C (p.Ala1954Pro) c.5458G>C (p.Ala1820Pro) c.4696G>C (p.Ala1566Pro) c.3592G>C (p.Ala1198Pro) | |
| 21 | g.46411852G= | CA2392665094 | PCNT | n.124G= c.5812G= (p.Ala1938=) c.*5022G= (n.*5022G=) c.5779G= (p.Ala1927=) n.6048G= c.5425G= (p.Ala1809=) c.5890G= (p.Ala1964=) c.5860G= (p.Ala1954=) c.5458G= (p.Ala1820=) c.4696G= (p.Ala1566=) c.3592G= (p.Ala1198=) | |
| 21 | g.46411852G>T | CA410556784 | PCNT | n.124G>T c.5812G>T (p.Ala1938Ser) c.*5022G>T (n.*5022G>T) c.5779G>T (p.Ala1927Ser) n.6048G>T c.5425G>T (p.Ala1809Ser) c.5890G>T (p.Ala1964Ser) c.5860G>T (p.Ala1954Ser) c.5458G>T (p.Ala1820Ser) c.4696G>T (p.Ala1566Ser) c.3592G>T (p.Ala1198Ser) | |
| 21 | g.46411853C>A | CA410556794 | PCNT | n.125C>A c.5813C>A (p.Ala1938Asp) c.*5023C>A (n.*5023C>A) c.5780C>A (p.Ala1927Asp) n.6049C>A c.5426C>A (p.Ala1809Asp) c.5891C>A (p.Ala1964Asp) c.5861C>A (p.Ala1954Asp) c.5459C>A (p.Ala1820Asp) c.4697C>A (p.Ala1566Asp) c.3593C>A (p.Ala1198Asp) | gnomAD v4 |