| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.94298352C>A | CA931355316 | PLCE1 | c.5168-27C>A (p.=) n.4244-27C>A (p.=) c.4244-27C>A (p.=) c.5120-27C>A (p.=) c.5210-27C>A (p.=) c.5207-27C>A (p.=) c.5162-27C>A (p.=) c.4286-27C>A (p.=) c.4055-27C>A (p.=) c.4196-27C>A (p.=) | |
| 10 | g.94298355C>A | CA595294549 | PLCE1 | c.5168-24C>A (p.=) n.4244-24C>A (p.=) c.4244-24C>A (p.=) c.5120-24C>A (p.=) c.5210-24C>A (p.=) c.5207-24C>A (p.=) c.5162-24C>A (p.=) c.4286-24C>A (p.=) c.4055-24C>A (p.=) c.4196-24C>A (p.=) | gnomAD |
| 10 | g.94298355C>T | CA5613301 | PLCE1 | c.5168-24C>T (p.=) n.4244-24C>T (p.=) c.4244-24C>T (p.=) c.5120-24C>T (p.=) c.5210-24C>T (p.=) c.5207-24C>T (p.=) c.5162-24C>T (p.=) c.4286-24C>T (p.=) c.4055-24C>T (p.=) c.4196-24C>T (p.=) | dbSNP ExAC gnomAD |
| 10 | g.94298356G>A | CA5613302 | PLCE1 | c.5168-23G>A (p.=) n.4244-23G>A (p.=) c.4244-23G>A (p.=) c.5120-23G>A (p.=) c.5210-23G>A (p.=) c.5207-23G>A (p.=) c.5162-23G>A (p.=) c.4286-23G>A (p.=) c.4055-23G>A (p.=) c.4196-23G>A (p.=) | dbSNP ExAC gnomAD |
| 10 | g.94298364T>C | CA211599458 | PLCE1 | c.5168-15T>C (p.=) n.4244-15T>C (p.=) c.4244-15T>C (p.=) c.5120-15T>C (p.=) c.5210-15T>C (p.=) c.5207-15T>C (p.=) c.5162-15T>C (p.=) c.4286-15T>C (p.=) c.4055-15T>C (p.=) c.4196-15T>C (p.=) | dbSNP gnomAD |
| 10 | g.94298366T>C | CA5613303 | PLCE1 | c.5168-13T>C (p.=) n.4244-13T>C (p.=) c.4244-13T>C (p.=) c.5120-13T>C (p.=) c.5210-13T>C (p.=) c.5207-13T>C (p.=) c.5162-13T>C (p.=) c.4286-13T>C (p.=) c.4055-13T>C (p.=) c.4196-13T>C (p.=) | dbSNP ExAC gnomAD |
| 10 | g.94298373dup | CA5613304 | PLCE1 | c.5168-6dup (p.=) n.4244-6dup (p.=) c.4244-6dup (p.=) c.5120-6dup (p.=) c.5210-6dup (p.=) c.5207-6dup (p.=) c.5162-6dup (p.=) c.4286-6dup (p.=) c.4055-6dup (p.=) c.4196-6dup (p.=) | dbSNP ExAC gnomAD |
| 10 | g.94298369G>C | CA595294560 | PLCE1 | c.5168-10G>C (p.=) n.4244-10G>C (p.=) c.4244-10G>C (p.=) c.5120-10G>C (p.=) c.5210-10G>C (p.=) c.5207-10G>C (p.=) c.5162-10G>C (p.=) c.4286-10G>C (p.=) c.4055-10G>C (p.=) c.4196-10G>C (p.=) | gnomAD |
| 10 | g.94298369G>T | CA5613305 | PLCE1 | c.5168-10G>T (p.=) n.4244-10G>T (p.=) c.4244-10G>T (p.=) c.5120-10G>T (p.=) c.5210-10G>T (p.=) c.5207-10G>T (p.=) c.5162-10G>T (p.=) c.4286-10G>T (p.=) c.4055-10G>T (p.=) c.4196-10G>T (p.=) | dbSNP ExAC gnomAD |
| 10 | g.94298372G>A | CA595294565 | PLCE1 | c.5168-7G>A (p.=) n.4244-7G>A (p.=) c.4244-7G>A (p.=) c.5120-7G>A (p.=) c.5210-7G>A (p.=) c.5207-7G>A (p.=) c.5162-7G>A (p.=) c.4286-7G>A (p.=) c.4055-7G>A (p.=) c.4196-7G>A (p.=) | gnomAD |
| 10 | g.94298373G>A | CA5613307 | PLCE1 | c.5168-6G>A (p.=) n.4244-6G>A (p.=) c.4244-6G>A (p.=) c.5120-6G>A (p.=) c.5210-6G>A (p.=) c.5207-6G>A (p.=) c.5162-6G>A (p.=) c.4286-6G>A (p.=) c.4055-6G>A (p.=) c.4196-6G>A (p.=) | dbSNP ExAC gnomAD |
| 10 | g.94298373G>C | CA5613306 | PLCE1 | c.5168-6G>C (p.=) n.4244-6G>C (p.=) c.4244-6G>C (p.=) c.5120-6G>C (p.=) c.5210-6G>C (p.=) c.5207-6G>C (p.=) c.5162-6G>C (p.=) c.4286-6G>C (p.=) c.4055-6G>C (p.=) c.4196-6G>C (p.=) | ClinVar dbSNP ExAC gnomAD |
| 10 | g.94298373G>T | CA5613308 | PLCE1 | c.5168-6G>T (p.=) n.4244-6G>T (p.=) c.4244-6G>T (p.=) c.5120-6G>T (p.=) c.5210-6G>T (p.=) c.5207-6G>T (p.=) c.5162-6G>T (p.=) c.4286-6G>T (p.=) c.4055-6G>T (p.=) c.4196-6G>T (p.=) | ClinVar dbSNP ExAC gnomAD |
| 10 | g.94298374T>G | CA5613309 | PLCE1 | c.5168-5T>G (p.=) n.4244-5T>G (p.=) c.4244-5T>G (p.=) c.5120-5T>G (p.=) c.5210-5T>G (p.=) c.5207-5T>G (p.=) c.5162-5T>G (p.=) c.4286-5T>G (p.=) c.4055-5T>G (p.=) c.4196-5T>G (p.=) | dbSNP ExAC gnomAD |
| 10 | g.94298377A>C | CA377641646 | PLCE1 | c.5168-2A>C (p.=) n.4244-2A>C (p.=) c.4244-2A>C (p.=) c.5120-2A>C (p.=) c.5210-2A>C (p.=) c.5207-2A>C (p.=) c.5162-2A>C (p.=) c.4286-2A>C (p.=) c.4055-2A>C (p.=) c.4196-2A>C (p.=) | |
| 10 | g.94298377A>G | CA377641647 | PLCE1 | c.5168-2A>G (p.=) n.4244-2A>G (p.=) c.4244-2A>G (p.=) c.5120-2A>G (p.=) c.5210-2A>G (p.=) c.5207-2A>G (p.=) c.5162-2A>G (p.=) c.4286-2A>G (p.=) c.4055-2A>G (p.=) c.4196-2A>G (p.=) | |
| 10 | g.94298377A>T | CA377641648 | PLCE1 | c.5168-2A>T (p.=) n.4244-2A>T (p.=) c.4244-2A>T (p.=) c.5120-2A>T (p.=) c.5210-2A>T (p.=) c.5207-2A>T (p.=) c.5162-2A>T (p.=) c.4286-2A>T (p.=) c.4055-2A>T (p.=) c.4196-2A>T (p.=) | |
| 10 | g.94298378G>A | CA377641649 | PLCE1 | c.5168-1G>A (p.=) n.4244-1G>A (p.=) c.4244-1G>A (p.=) c.5120-1G>A (p.=) c.5210-1G>A (p.=) c.5207-1G>A (p.=) c.5162-1G>A (p.=) c.4286-1G>A (p.=) c.4055-1G>A (p.=) c.4196-1G>A (p.=) | |
| 10 | g.94298378G>C | CA377641650 | PLCE1 | c.5168-1G>C (p.=) n.4244-1G>C (p.=) c.4244-1G>C (p.=) c.5120-1G>C (p.=) c.5210-1G>C (p.=) c.5207-1G>C (p.=) c.5162-1G>C (p.=) c.4286-1G>C (p.=) c.4055-1G>C (p.=) c.4196-1G>C (p.=) | |
| 10 | g.94298378G>T | CA211599506 | PLCE1 | c.5168-1G>T (p.=) n.4244-1G>T (p.=) c.4244-1G>T (p.=) c.5120-1G>T (p.=) c.5210-1G>T (p.=) c.5207-1G>T (p.=) c.5162-1G>T (p.=) c.4286-1G>T (p.=) c.4055-1G>T (p.=) c.4196-1G>T (p.=) | dbSNP |
| 10 | g.94298379G>A | CA211599510 | PLCE1 | c.5168G>A (p.Ser1723Asn) n.4244G>A (p.Ser1415Asn) c.4244G>A (p.Ser1415Asn) c.5120G>A (p.Ser1707Asn) c.5210G>A (p.Ser1737Asn) c.5207G>A (p.Ser1736Asn) c.5162G>A (p.Ser1721Asn) c.4286G>A (p.Ser1429Asn) c.4055G>A (p.Ser1352Asn) c.4196G>A (p.Ser1399Asn) | dbSNP gnomAD |
| 10 | g.94298379G>C | CA377641651 | PLCE1 | c.5168G>C (p.Ser1723Thr) n.4244G>C (p.Ser1415Thr) c.4244G>C (p.Ser1415Thr) c.5120G>C (p.Ser1707Thr) c.5210G>C (p.Ser1737Thr) c.5207G>C (p.Ser1736Thr) c.5162G>C (p.Ser1721Thr) c.4286G>C (p.Ser1429Thr) c.4055G>C (p.Ser1352Thr) c.4196G>C (p.Ser1399Thr) | |
| 10 | g.94298379G>T | CA377641652 | PLCE1 | c.5168G>T (p.Ser1723Ile) n.4244G>T (p.Ser1415Ile) c.4244G>T (p.Ser1415Ile) c.5120G>T (p.Ser1707Ile) c.5210G>T (p.Ser1737Ile) c.5207G>T (p.Ser1736Ile) c.5162G>T (p.Ser1721Ile) c.4286G>T (p.Ser1429Ile) c.4055G>T (p.Ser1352Ile) c.4196G>T (p.Ser1399Ile) | |
| 10 | g.94298380T>A | CA377641653 | PLCE1 | c.5169T>A (p.Ser1723Arg) n.4245T>A (p.Ser1415Arg) c.4245T>A (p.Ser1415Arg) c.5121T>A (p.Ser1707Arg) c.5211T>A (p.Ser1737Arg) c.5208T>A (p.Ser1736Arg) c.5163T>A (p.Ser1721Arg) c.4287T>A (p.Ser1429Arg) c.4056T>A (p.Ser1352Arg) c.4197T>A (p.Ser1399Arg) | |
| 10 | g.94298380T>C | CA470807916 | PLCE1 | c.5169T>C (p.Ser1723=) n.4245T>C (p.Ser1415=) c.4245T>C (p.Ser1415=) c.5121T>C (p.Ser1707=) c.5211T>C (p.Ser1737=) c.5208T>C (p.Ser1736=) c.5163T>C (p.Ser1721=) c.4287T>C (p.Ser1429=) c.4056T>C (p.Ser1352=) c.4197T>C (p.Ser1399=) | COSMIC COSMIC COSMIC |
| 10 | g.94298380T>G | CA377641654 | PLCE1 | c.5169T>G (p.Ser1723Arg) n.4245T>G (p.Ser1415Arg) c.4245T>G (p.Ser1415Arg) c.5121T>G (p.Ser1707Arg) c.5211T>G (p.Ser1737Arg) c.5208T>G (p.Ser1736Arg) c.5163T>G (p.Ser1721Arg) c.4287T>G (p.Ser1429Arg) c.4056T>G (p.Ser1352Arg) c.4197T>G (p.Ser1399Arg) | |
| 10 | g.94298381T>A | CA377641655 | PLCE1 | c.5170T>A (p.Ser1724Thr) n.4246T>A (p.Ser1416Thr) c.4246T>A (p.Ser1416Thr) c.5122T>A (p.Ser1708Thr) c.5212T>A (p.Ser1738Thr) c.5209T>A (p.Ser1737Thr) c.5164T>A (p.Ser1722Thr) c.4288T>A (p.Ser1430Thr) c.4057T>A (p.Ser1353Thr) c.4198T>A (p.Ser1400Thr) | |
| 10 | g.94298381T>C | CA377641657 | PLCE1 | c.5170T>C (p.Ser1724Pro) n.4246T>C (p.Ser1416Pro) c.4246T>C (p.Ser1416Pro) c.5122T>C (p.Ser1708Pro) c.5212T>C (p.Ser1738Pro) c.5209T>C (p.Ser1737Pro) c.5164T>C (p.Ser1722Pro) c.4288T>C (p.Ser1430Pro) c.4057T>C (p.Ser1353Pro) c.4198T>C (p.Ser1400Pro) | |
| 10 | g.94298381T>G | CA377641656 | PLCE1 | c.5170T>G (p.Ser1724Ala) n.4246T>G (p.Ser1416Ala) c.4246T>G (p.Ser1416Ala) c.5122T>G (p.Ser1708Ala) c.5212T>G (p.Ser1738Ala) c.5209T>G (p.Ser1737Ala) c.5164T>G (p.Ser1722Ala) c.4288T>G (p.Ser1430Ala) c.4057T>G (p.Ser1353Ala) c.4198T>G (p.Ser1400Ala) | |
| 10 | g.94298382C>A | CA377641658 | PLCE1 | c.5171C>A (p.Ser1724Tyr) n.4247C>A (p.Ser1416Tyr) c.4247C>A (p.Ser1416Tyr) c.5123C>A (p.Ser1708Tyr) c.5213C>A (p.Ser1738Tyr) c.5210C>A (p.Ser1737Tyr) c.5165C>A (p.Ser1722Tyr) c.4289C>A (p.Ser1430Tyr) c.4058C>A (p.Ser1353Tyr) c.4199C>A (p.Ser1400Tyr) | |
| 10 | g.94298382C>G | CA377641659 | PLCE1 | c.5171C>G (p.Ser1724Cys) n.4247C>G (p.Ser1416Cys) c.4247C>G (p.Ser1416Cys) c.5123C>G (p.Ser1708Cys) c.5213C>G (p.Ser1738Cys) c.5210C>G (p.Ser1737Cys) c.5165C>G (p.Ser1722Cys) c.4289C>G (p.Ser1430Cys) c.4058C>G (p.Ser1353Cys) c.4199C>G (p.Ser1400Cys) | |
| 10 | g.94298382C>T | CA377641660 | PLCE1 | c.5171C>T (p.Ser1724Phe) n.4247C>T (p.Ser1416Phe) c.4247C>T (p.Ser1416Phe) c.5123C>T (p.Ser1708Phe) c.5213C>T (p.Ser1738Phe) c.5210C>T (p.Ser1737Phe) c.5165C>T (p.Ser1722Phe) c.4289C>T (p.Ser1430Phe) c.4058C>T (p.Ser1353Phe) c.4199C>T (p.Ser1400Phe) | |
| 10 | g.94298382del | CA891862859 | PLCE1 | c.5171del (p.Cys1725ValfsTer?) n.4247del (p.Cys1417ValfsTer?) c.4247del (p.Cys1417ValfsTer?) c.5123del (p.Cys1709ValfsTer?) c.5213del (p.Cys1739ValfsTer?) c.5210del (p.Cys1738ValfsTer?) c.5165del (p.Cys1723ValfsTer?) c.4289del (p.Cys1431ValfsTer?) c.4058del (p.Cys1354ValfsTer?) c.4199del (p.Cys1401ValfsTer?) | ClinVar dbSNP |
| 10 | g.94298383C>A | CA470807917 | PLCE1 | c.5172C>A (p.Ser1724=) n.4248C>A (p.Ser1416=) c.4248C>A (p.Ser1416=) c.5124C>A (p.Ser1708=) c.5214C>A (p.Ser1738=) c.5211C>A (p.Ser1737=) c.5166C>A (p.Ser1722=) c.4290C>A (p.Ser1430=) c.4059C>A (p.Ser1353=) c.4200C>A (p.Ser1400=) | |
| 10 | g.94298383C>G | CA470807919 | PLCE1 | c.5172C>G (p.Ser1724=) n.4248C>G (p.Ser1416=) c.4248C>G (p.Ser1416=) c.5124C>G (p.Ser1708=) c.5214C>G (p.Ser1738=) c.5211C>G (p.Ser1737=) c.5166C>G (p.Ser1722=) c.4290C>G (p.Ser1430=) c.4059C>G (p.Ser1353=) c.4200C>G (p.Ser1400=) | |
| 10 | g.94298383C>T | CA470807918 | PLCE1 | c.5172C>T (p.Ser1724=) n.4248C>T (p.Ser1416=) c.4248C>T (p.Ser1416=) c.5124C>T (p.Ser1708=) c.5214C>T (p.Ser1738=) c.5211C>T (p.Ser1737=) c.5166C>T (p.Ser1722=) c.4290C>T (p.Ser1430=) c.4059C>T (p.Ser1353=) c.4200C>T (p.Ser1400=) | |
| 10 | g.94298384T>A | CA377641661 | PLCE1 | c.5173T>A (p.Cys1725Ser) n.4249T>A (p.Cys1417Ser) c.4249T>A (p.Cys1417Ser) c.5125T>A (p.Cys1709Ser) c.5215T>A (p.Cys1739Ser) c.5212T>A (p.Cys1738Ser) c.5167T>A (p.Cys1723Ser) c.4291T>A (p.Cys1431Ser) c.4060T>A (p.Cys1354Ser) c.4201T>A (p.Cys1401Ser) | |
| 10 | g.94298384T>C | CA377641662 | PLCE1 | c.5173T>C (p.Cys1725Arg) n.4249T>C (p.Cys1417Arg) c.4249T>C (p.Cys1417Arg) c.5125T>C (p.Cys1709Arg) c.5215T>C (p.Cys1739Arg) c.5212T>C (p.Cys1738Arg) c.5167T>C (p.Cys1723Arg) c.4291T>C (p.Cys1431Arg) c.4060T>C (p.Cys1354Arg) c.4201T>C (p.Cys1401Arg) | |
| 10 | g.94298384T>G | CA377641663 | PLCE1 | c.5173T>G (p.Cys1725Gly) n.4249T>G (p.Cys1417Gly) c.4249T>G (p.Cys1417Gly) c.5125T>G (p.Cys1709Gly) c.5215T>G (p.Cys1739Gly) c.5212T>G (p.Cys1738Gly) c.5167T>G (p.Cys1723Gly) c.4291T>G (p.Cys1431Gly) c.4060T>G (p.Cys1354Gly) c.4201T>G (p.Cys1401Gly) | |
| 10 | g.94298385G>A | CA377641665 | PLCE1 | c.5174G>A (p.Cys1725Tyr) n.4250G>A (p.Cys1417Tyr) c.4250G>A (p.Cys1417Tyr) c.5126G>A (p.Cys1709Tyr) c.5216G>A (p.Cys1739Tyr) c.5213G>A (p.Cys1738Tyr) c.5168G>A (p.Cys1723Tyr) c.4292G>A (p.Cys1431Tyr) c.4061G>A (p.Cys1354Tyr) c.4202G>A (p.Cys1401Tyr) | |
| 10 | g.94298385G>C | CA377641664 | PLCE1 | c.5174G>C (p.Cys1725Ser) n.4250G>C (p.Cys1417Ser) c.4250G>C (p.Cys1417Ser) c.5126G>C (p.Cys1709Ser) c.5216G>C (p.Cys1739Ser) c.5213G>C (p.Cys1738Ser) c.5168G>C (p.Cys1723Ser) c.4292G>C (p.Cys1431Ser) c.4061G>C (p.Cys1354Ser) c.4202G>C (p.Cys1401Ser) | |
| 10 | g.94298385G>T | CA5613310 | PLCE1 | c.5174G>T (p.Cys1725Phe) n.4250G>T (p.Cys1417Phe) c.4250G>T (p.Cys1417Phe) c.5126G>T (p.Cys1709Phe) c.5216G>T (p.Cys1739Phe) c.5213G>T (p.Cys1738Phe) c.5168G>T (p.Cys1723Phe) c.4292G>T (p.Cys1431Phe) c.4061G>T (p.Cys1354Phe) c.4202G>T (p.Cys1401Phe) | dbSNP ExAC gnomAD |
| 10 | g.94298386T>A | CA377641666 | PLCE1 | c.5175T>A (p.Cys1725Ter) n.4251T>A (p.Cys1417Ter) c.4251T>A (p.Cys1417Ter) c.5127T>A (p.Cys1709Ter) c.5217T>A (p.Cys1739Ter) c.5214T>A (p.Cys1738Ter) c.5169T>A (p.Cys1723Ter) c.4293T>A (p.Cys1431Ter) c.4062T>A (p.Cys1354Ter) c.4203T>A (p.Cys1401Ter) | |
| 10 | g.94298386T>C | CA5613312 | PLCE1 | c.5175T>C (p.Cys1725=) n.4251T>C (p.Cys1417=) c.4251T>C (p.Cys1417=) c.5127T>C (p.Cys1709=) c.5217T>C (p.Cys1739=) c.5214T>C (p.Cys1738=) c.5169T>C (p.Cys1723=) c.4293T>C (p.Cys1431=) c.4062T>C (p.Cys1354=) c.4203T>C (p.Cys1401=) | ClinVar dbSNP ExAC gnomAD |
| 10 | g.94298386T>G | CA5613311 | PLCE1 | c.5175T>G (p.Cys1725Trp) n.4251T>G (p.Cys1417Trp) c.4251T>G (p.Cys1417Trp) c.5127T>G (p.Cys1709Trp) c.5217T>G (p.Cys1739Trp) c.5214T>G (p.Cys1738Trp) c.5169T>G (p.Cys1723Trp) c.4293T>G (p.Cys1431Trp) c.4062T>G (p.Cys1354Trp) c.4203T>G (p.Cys1401Trp) | dbSNP ExAC gnomAD |
| 10 | g.94298387G>A | CA377641667 | PLCE1 | c.5176G>A (p.Glu1726Lys) n.4252G>A (p.Glu1418Lys) c.4252G>A (p.Glu1418Lys) c.5128G>A (p.Glu1710Lys) c.5218G>A (p.Glu1740Lys) c.5215G>A (p.Glu1739Lys) c.5170G>A (p.Glu1724Lys) c.4294G>A (p.Glu1432Lys) c.4063G>A (p.Glu1355Lys) c.4204G>A (p.Glu1402Lys) | |
| 10 | g.94298387G>C | CA377641668 | PLCE1 | c.5176G>C (p.Glu1726Gln) n.4252G>C (p.Glu1418Gln) c.4252G>C (p.Glu1418Gln) c.5128G>C (p.Glu1710Gln) c.5218G>C (p.Glu1740Gln) c.5215G>C (p.Glu1739Gln) c.5170G>C (p.Glu1724Gln) c.4294G>C (p.Glu1432Gln) c.4063G>C (p.Glu1355Gln) c.4204G>C (p.Glu1402Gln) | |
| 10 | g.94298387G>T | CA377641669 | PLCE1 | c.5176G>T (p.Glu1726Ter) n.4252G>T (p.Glu1418Ter) c.4252G>T (p.Glu1418Ter) c.5128G>T (p.Glu1710Ter) c.5218G>T (p.Glu1740Ter) c.5215G>T (p.Glu1739Ter) c.5170G>T (p.Glu1724Ter) c.4294G>T (p.Glu1432Ter) c.4063G>T (p.Glu1355Ter) c.4204G>T (p.Glu1402Ter) | |
| 10 | g.94298388A>C | CA377641670 | PLCE1 | c.5177A>C (p.Glu1726Ala) n.4253A>C (p.Glu1418Ala) c.4253A>C (p.Glu1418Ala) c.5129A>C (p.Glu1710Ala) c.5219A>C (p.Glu1740Ala) c.5216A>C (p.Glu1739Ala) c.5171A>C (p.Glu1724Ala) c.4295A>C (p.Glu1432Ala) c.4064A>C (p.Glu1355Ala) c.4205A>C (p.Glu1402Ala) | |
| 10 | g.94298388A>G | CA377641672 | PLCE1 | c.5177A>G (p.Glu1726Gly) n.4253A>G (p.Glu1418Gly) c.4253A>G (p.Glu1418Gly) c.5129A>G (p.Glu1710Gly) c.5219A>G (p.Glu1740Gly) c.5216A>G (p.Glu1739Gly) c.5171A>G (p.Glu1724Gly) c.4295A>G (p.Glu1432Gly) c.4064A>G (p.Glu1355Gly) c.4205A>G (p.Glu1402Gly) |