Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.5210656C= | CA2319812180 | PTPRS | n.671+23G= n.496+23G= c.5361+23G= (n.5361+23G=) c.4020+23G= (n.4020+23G=) c.5247+23G= (n.5247+23G=) c.4032+23G= (n.4032+23G=) n.4302+23G= c.5322+23G= (n.5322+23G=) c.5235+23G= (n.5235+23G=) c.4008+23G= (n.4008+23G=) c.5349+23G= (n.5349+23G=) c.5337+23G= (n.5337+23G=) c.5301+23G= (n.5301+23G=) c.5289+23G= (n.5289+23G=) c.5262+23G= (n.5262+23G=) c.4095+23G= (n.4095+23G=) c.4083+23G= (n.4083+23G=) c.4047+23G= (n.4047+23G=) c.4068+23G= (n.4068+23G=) c.2988+23G= (n.2988+23G=) c.5334+23G= (n.5334+23G=) c.5307+23G= (n.5307+23G=) c.5286+23G= (n.5286+23G=) c.5274+23G= (n.5274+23G=) c.4608+23G= (n.4608+23G=) c.4080+23G= (n.4080+23G=) c.5295+23G= (n.5295+23G=) | |
19 | g.5210656C>T | CA631717786 | PTPRS | n.671+23G>A n.496+23G>A c.5361+23G>A (n.5361+23G>A) c.4020+23G>A (n.4020+23G>A) c.5247+23G>A (n.5247+23G>A) c.4032+23G>A (n.4032+23G>A) n.4302+23G>A c.5322+23G>A (n.5322+23G>A) c.5235+23G>A (n.5235+23G>A) c.4008+23G>A (n.4008+23G>A) c.5349+23G>A (n.5349+23G>A) c.5337+23G>A (n.5337+23G>A) c.5301+23G>A (n.5301+23G>A) c.5289+23G>A (n.5289+23G>A) c.5262+23G>A (n.5262+23G>A) c.4095+23G>A (n.4095+23G>A) c.4083+23G>A (n.4083+23G>A) c.4047+23G>A (n.4047+23G>A) c.4068+23G>A (n.4068+23G>A) c.2988+23G>A (n.2988+23G>A) c.5334+23G>A (n.5334+23G>A) c.5307+23G>A (n.5307+23G>A) c.5286+23G>A (n.5286+23G>A) c.5274+23G>A (n.5274+23G>A) c.4608+23G>A (n.4608+23G>A) c.4080+23G>A (n.4080+23G>A) c.5295+23G>A (n.5295+23G>A) | dbSNP gnomAD v2 |
19 | g.5210657C= | CA2319812181 | PTPRS | n.671+22G= n.496+22G= c.5361+22G= (n.5361+22G=) c.4020+22G= (n.4020+22G=) c.5247+22G= (n.5247+22G=) c.4032+22G= (n.4032+22G=) n.4302+22G= c.5322+22G= (n.5322+22G=) c.5235+22G= (n.5235+22G=) c.4008+22G= (n.4008+22G=) c.5349+22G= (n.5349+22G=) c.5337+22G= (n.5337+22G=) c.5301+22G= (n.5301+22G=) c.5289+22G= (n.5289+22G=) c.5262+22G= (n.5262+22G=) c.4095+22G= (n.4095+22G=) c.4083+22G= (n.4083+22G=) c.4047+22G= (n.4047+22G=) c.4068+22G= (n.4068+22G=) c.2988+22G= (n.2988+22G=) c.5334+22G= (n.5334+22G=) c.5307+22G= (n.5307+22G=) c.5286+22G= (n.5286+22G=) c.5274+22G= (n.5274+22G=) c.4608+22G= (n.4608+22G=) c.4080+22G= (n.4080+22G=) c.5295+22G= (n.5295+22G=) | |
19 | g.5210657C>G | CA9108759 | PTPRS | n.671+22G>C n.496+22G>C c.5361+22G>C (n.5361+22G>C) c.4020+22G>C (n.4020+22G>C) c.5247+22G>C (n.5247+22G>C) c.4032+22G>C (n.4032+22G>C) n.4302+22G>C c.5322+22G>C (n.5322+22G>C) c.5235+22G>C (n.5235+22G>C) c.4008+22G>C (n.4008+22G>C) c.5349+22G>C (n.5349+22G>C) c.5337+22G>C (n.5337+22G>C) c.5301+22G>C (n.5301+22G>C) c.5289+22G>C (n.5289+22G>C) c.5262+22G>C (n.5262+22G>C) c.4095+22G>C (n.4095+22G>C) c.4083+22G>C (n.4083+22G>C) c.4047+22G>C (n.4047+22G>C) c.4068+22G>C (n.4068+22G>C) c.2988+22G>C (n.2988+22G>C) c.5334+22G>C (n.5334+22G>C) c.5307+22G>C (n.5307+22G>C) c.5286+22G>C (n.5286+22G>C) c.5274+22G>C (n.5274+22G>C) c.4608+22G>C (n.4608+22G>C) c.4080+22G>C (n.4080+22G>C) c.5295+22G>C (n.5295+22G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.5210657C>T | CA9108758 | PTPRS | n.671+22G>A n.496+22G>A c.5361+22G>A (n.5361+22G>A) c.4020+22G>A (n.4020+22G>A) c.5247+22G>A (n.5247+22G>A) c.4032+22G>A (n.4032+22G>A) n.4302+22G>A c.5322+22G>A (n.5322+22G>A) c.5235+22G>A (n.5235+22G>A) c.4008+22G>A (n.4008+22G>A) c.5349+22G>A (n.5349+22G>A) c.5337+22G>A (n.5337+22G>A) c.5301+22G>A (n.5301+22G>A) c.5289+22G>A (n.5289+22G>A) c.5262+22G>A (n.5262+22G>A) c.4095+22G>A (n.4095+22G>A) c.4083+22G>A (n.4083+22G>A) c.4047+22G>A (n.4047+22G>A) c.4068+22G>A (n.4068+22G>A) c.2988+22G>A (n.2988+22G>A) c.5334+22G>A (n.5334+22G>A) c.5307+22G>A (n.5307+22G>A) c.5286+22G>A (n.5286+22G>A) c.5274+22G>A (n.5274+22G>A) c.4608+22G>A (n.4608+22G>A) c.4080+22G>A (n.4080+22G>A) c.5295+22G>A (n.5295+22G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.5210658C= | CA2319812182 | PTPRS | n.671+21G= n.496+21G= c.5361+21G= (n.5361+21G=) c.4020+21G= (n.4020+21G=) c.5247+21G= (n.5247+21G=) c.4032+21G= (n.4032+21G=) n.4302+21G= c.5322+21G= (n.5322+21G=) c.5235+21G= (n.5235+21G=) c.4008+21G= (n.4008+21G=) c.5349+21G= (n.5349+21G=) c.5337+21G= (n.5337+21G=) c.5301+21G= (n.5301+21G=) c.5289+21G= (n.5289+21G=) c.5262+21G= (n.5262+21G=) c.4095+21G= (n.4095+21G=) c.4083+21G= (n.4083+21G=) c.4047+21G= (n.4047+21G=) c.4068+21G= (n.4068+21G=) c.2988+21G= (n.2988+21G=) c.5334+21G= (n.5334+21G=) c.5307+21G= (n.5307+21G=) c.5286+21G= (n.5286+21G=) c.5274+21G= (n.5274+21G=) c.4608+21G= (n.4608+21G=) c.4080+21G= (n.4080+21G=) c.5295+21G= (n.5295+21G=) | |
19 | g.5210658C>G | CA2319812183 | PTPRS | n.671+21G>C n.496+21G>C c.5361+21G>C (n.5361+21G>C) c.4020+21G>C (n.4020+21G>C) c.5247+21G>C (n.5247+21G>C) c.4032+21G>C (n.4032+21G>C) n.4302+21G>C c.5322+21G>C (n.5322+21G>C) c.5235+21G>C (n.5235+21G>C) c.4008+21G>C (n.4008+21G>C) c.5349+21G>C (n.5349+21G>C) c.5337+21G>C (n.5337+21G>C) c.5301+21G>C (n.5301+21G>C) c.5289+21G>C (n.5289+21G>C) c.5262+21G>C (n.5262+21G>C) c.4095+21G>C (n.4095+21G>C) c.4083+21G>C (n.4083+21G>C) c.4047+21G>C (n.4047+21G>C) c.4068+21G>C (n.4068+21G>C) c.2988+21G>C (n.2988+21G>C) c.5334+21G>C (n.5334+21G>C) c.5307+21G>C (n.5307+21G>C) c.5286+21G>C (n.5286+21G>C) c.5274+21G>C (n.5274+21G>C) c.4608+21G>C (n.4608+21G>C) c.4080+21G>C (n.4080+21G>C) c.5295+21G>C (n.5295+21G>C) | dbSNP |
19 | g.5210660G>T | CA2586524959 | PTPRS | n.671+19C>A n.496+19C>A c.5361+19C>A (n.5361+19C>A) c.4020+19C>A (n.4020+19C>A) c.5247+19C>A (n.5247+19C>A) c.4032+19C>A (n.4032+19C>A) n.4302+19C>A c.5322+19C>A (n.5322+19C>A) c.5235+19C>A (n.5235+19C>A) c.4008+19C>A (n.4008+19C>A) c.5349+19C>A (n.5349+19C>A) c.5337+19C>A (n.5337+19C>A) c.5301+19C>A (n.5301+19C>A) c.5289+19C>A (n.5289+19C>A) c.5262+19C>A (n.5262+19C>A) c.4095+19C>A (n.4095+19C>A) c.4083+19C>A (n.4083+19C>A) c.4047+19C>A (n.4047+19C>A) c.4068+19C>A (n.4068+19C>A) c.2988+19C>A (n.2988+19C>A) c.5334+19C>A (n.5334+19C>A) c.5307+19C>A (n.5307+19C>A) c.5286+19C>A (n.5286+19C>A) c.5274+19C>A (n.5274+19C>A) c.4608+19C>A (n.4608+19C>A) c.4080+19C>A (n.4080+19C>A) c.5295+19C>A (n.5295+19C>A) | gnomAD v4 |
19 | g.5210661C>T | CA657199364 | PTPRS | n.671+18G>A n.496+18G>A c.5361+18G>A (n.5361+18G>A) c.4020+18G>A (n.4020+18G>A) c.5247+18G>A (n.5247+18G>A) c.4032+18G>A (n.4032+18G>A) n.4302+18G>A c.5322+18G>A (n.5322+18G>A) c.5235+18G>A (n.5235+18G>A) c.4008+18G>A (n.4008+18G>A) c.5349+18G>A (n.5349+18G>A) c.5337+18G>A (n.5337+18G>A) c.5301+18G>A (n.5301+18G>A) c.5289+18G>A (n.5289+18G>A) c.5262+18G>A (n.5262+18G>A) c.4095+18G>A (n.4095+18G>A) c.4083+18G>A (n.4083+18G>A) c.4047+18G>A (n.4047+18G>A) c.4068+18G>A (n.4068+18G>A) c.2988+18G>A (n.2988+18G>A) c.5334+18G>A (n.5334+18G>A) c.5307+18G>A (n.5307+18G>A) c.5286+18G>A (n.5286+18G>A) c.5274+18G>A (n.5274+18G>A) c.4608+18G>A (n.4608+18G>A) c.4080+18G>A (n.4080+18G>A) c.5295+18G>A (n.5295+18G>A) | gnomAD v4 COSMIC |
19 | g.5210662T>G | CA304603402 | PTPRS | n.671+17A>C n.496+17A>C c.5361+17A>C (n.5361+17A>C) c.4020+17A>C (n.4020+17A>C) c.5247+17A>C (n.5247+17A>C) c.4032+17A>C (n.4032+17A>C) n.4302+17A>C c.5322+17A>C (n.5322+17A>C) c.5235+17A>C (n.5235+17A>C) c.4008+17A>C (n.4008+17A>C) c.5349+17A>C (n.5349+17A>C) c.5337+17A>C (n.5337+17A>C) c.5301+17A>C (n.5301+17A>C) c.5289+17A>C (n.5289+17A>C) c.5262+17A>C (n.5262+17A>C) c.4095+17A>C (n.4095+17A>C) c.4083+17A>C (n.4083+17A>C) c.4047+17A>C (n.4047+17A>C) c.4068+17A>C (n.4068+17A>C) c.2988+17A>C (n.2988+17A>C) c.5334+17A>C (n.5334+17A>C) c.5307+17A>C (n.5307+17A>C) c.5286+17A>C (n.5286+17A>C) c.5274+17A>C (n.5274+17A>C) c.4608+17A>C (n.4608+17A>C) c.4080+17A>C (n.4080+17A>C) c.5295+17A>C (n.5295+17A>C) | dbSNP gnomAD v4 |
19 | g.5210662T= | CA2319812184 | PTPRS | n.671+17A= n.496+17A= c.5361+17A= (n.5361+17A=) c.4020+17A= (n.4020+17A=) c.5247+17A= (n.5247+17A=) c.4032+17A= (n.4032+17A=) n.4302+17A= c.5322+17A= (n.5322+17A=) c.5235+17A= (n.5235+17A=) c.4008+17A= (n.4008+17A=) c.5349+17A= (n.5349+17A=) c.5337+17A= (n.5337+17A=) c.5301+17A= (n.5301+17A=) c.5289+17A= (n.5289+17A=) c.5262+17A= (n.5262+17A=) c.4095+17A= (n.4095+17A=) c.4083+17A= (n.4083+17A=) c.4047+17A= (n.4047+17A=) c.4068+17A= (n.4068+17A=) c.2988+17A= (n.2988+17A=) c.5334+17A= (n.5334+17A=) c.5307+17A= (n.5307+17A=) c.5286+17A= (n.5286+17A=) c.5274+17A= (n.5274+17A=) c.4608+17A= (n.4608+17A=) c.4080+17A= (n.4080+17A=) c.5295+17A= (n.5295+17A=) | |
19 | g.5210663G>C | CA2586524960 | PTPRS | n.671+16C>G n.496+16C>G c.5361+16C>G (n.5361+16C>G) c.4020+16C>G (n.4020+16C>G) c.5247+16C>G (n.5247+16C>G) c.4032+16C>G (n.4032+16C>G) n.4302+16C>G c.5322+16C>G (n.5322+16C>G) c.5235+16C>G (n.5235+16C>G) c.4008+16C>G (n.4008+16C>G) c.5349+16C>G (n.5349+16C>G) c.5337+16C>G (n.5337+16C>G) c.5301+16C>G (n.5301+16C>G) c.5289+16C>G (n.5289+16C>G) c.5262+16C>G (n.5262+16C>G) c.4095+16C>G (n.4095+16C>G) c.4083+16C>G (n.4083+16C>G) c.4047+16C>G (n.4047+16C>G) c.4068+16C>G (n.4068+16C>G) c.2988+16C>G (n.2988+16C>G) c.5334+16C>G (n.5334+16C>G) c.5307+16C>G (n.5307+16C>G) c.5286+16C>G (n.5286+16C>G) c.5274+16C>G (n.5274+16C>G) c.4608+16C>G (n.4608+16C>G) c.4080+16C>G (n.4080+16C>G) c.5295+16C>G (n.5295+16C>G) | gnomAD v4 |
19 | g.5210664T>C | CA2586524961 | PTPRS | n.671+15A>G n.496+15A>G c.5361+15A>G (n.5361+15A>G) c.4020+15A>G (n.4020+15A>G) c.5247+15A>G (n.5247+15A>G) c.4032+15A>G (n.4032+15A>G) n.4302+15A>G c.5322+15A>G (n.5322+15A>G) c.5235+15A>G (n.5235+15A>G) c.4008+15A>G (n.4008+15A>G) c.5349+15A>G (n.5349+15A>G) c.5337+15A>G (n.5337+15A>G) c.5301+15A>G (n.5301+15A>G) c.5289+15A>G (n.5289+15A>G) c.5262+15A>G (n.5262+15A>G) c.4095+15A>G (n.4095+15A>G) c.4083+15A>G (n.4083+15A>G) c.4047+15A>G (n.4047+15A>G) c.4068+15A>G (n.4068+15A>G) c.2988+15A>G (n.2988+15A>G) c.5334+15A>G (n.5334+15A>G) c.5307+15A>G (n.5307+15A>G) c.5286+15A>G (n.5286+15A>G) c.5274+15A>G (n.5274+15A>G) c.4608+15A>G (n.4608+15A>G) c.4080+15A>G (n.4080+15A>G) c.5295+15A>G (n.5295+15A>G) | gnomAD v4 |
19 | g.5210664T>G | CA992922013 | PTPRS | n.671+15A>C n.496+15A>C c.5361+15A>C (n.5361+15A>C) c.4020+15A>C (n.4020+15A>C) c.5247+15A>C (n.5247+15A>C) c.4032+15A>C (n.4032+15A>C) n.4302+15A>C c.5322+15A>C (n.5322+15A>C) c.5235+15A>C (n.5235+15A>C) c.4008+15A>C (n.4008+15A>C) c.5349+15A>C (n.5349+15A>C) c.5337+15A>C (n.5337+15A>C) c.5301+15A>C (n.5301+15A>C) c.5289+15A>C (n.5289+15A>C) c.5262+15A>C (n.5262+15A>C) c.4095+15A>C (n.4095+15A>C) c.4083+15A>C (n.4083+15A>C) c.4047+15A>C (n.4047+15A>C) c.4068+15A>C (n.4068+15A>C) c.2988+15A>C (n.2988+15A>C) c.5334+15A>C (n.5334+15A>C) c.5307+15A>C (n.5307+15A>C) c.5286+15A>C (n.5286+15A>C) c.5274+15A>C (n.5274+15A>C) c.4608+15A>C (n.4608+15A>C) c.4080+15A>C (n.4080+15A>C) c.5295+15A>C (n.5295+15A>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.5210664T= | CA2319812185 | PTPRS | n.671+15A= n.496+15A= c.5361+15A= (n.5361+15A=) c.4020+15A= (n.4020+15A=) c.5247+15A= (n.5247+15A=) c.4032+15A= (n.4032+15A=) n.4302+15A= c.5322+15A= (n.5322+15A=) c.5235+15A= (n.5235+15A=) c.4008+15A= (n.4008+15A=) c.5349+15A= (n.5349+15A=) c.5337+15A= (n.5337+15A=) c.5301+15A= (n.5301+15A=) c.5289+15A= (n.5289+15A=) c.5262+15A= (n.5262+15A=) c.4095+15A= (n.4095+15A=) c.4083+15A= (n.4083+15A=) c.4047+15A= (n.4047+15A=) c.4068+15A= (n.4068+15A=) c.2988+15A= (n.2988+15A=) c.5334+15A= (n.5334+15A=) c.5307+15A= (n.5307+15A=) c.5286+15A= (n.5286+15A=) c.5274+15A= (n.5274+15A=) c.4608+15A= (n.4608+15A=) c.4080+15A= (n.4080+15A=) c.5295+15A= (n.5295+15A=) | |
19 | g.5210665G>T | CA2560331771 | PTPRS | n.671+14C>A n.496+14C>A c.5361+14C>A (n.5361+14C>A) c.4020+14C>A (n.4020+14C>A) c.5247+14C>A (n.5247+14C>A) c.4032+14C>A (n.4032+14C>A) n.4302+14C>A c.5322+14C>A (n.5322+14C>A) c.5235+14C>A (n.5235+14C>A) c.4008+14C>A (n.4008+14C>A) c.5349+14C>A (n.5349+14C>A) c.5337+14C>A (n.5337+14C>A) c.5301+14C>A (n.5301+14C>A) c.5289+14C>A (n.5289+14C>A) c.5262+14C>A (n.5262+14C>A) c.4095+14C>A (n.4095+14C>A) c.4083+14C>A (n.4083+14C>A) c.4047+14C>A (n.4047+14C>A) c.4068+14C>A (n.4068+14C>A) c.2988+14C>A (n.2988+14C>A) c.5334+14C>A (n.5334+14C>A) c.5307+14C>A (n.5307+14C>A) c.5286+14C>A (n.5286+14C>A) c.5274+14C>A (n.5274+14C>A) c.4608+14C>A (n.4608+14C>A) c.4080+14C>A (n.4080+14C>A) c.5295+14C>A (n.5295+14C>A) | |
19 | g.5210666G>C | CA657199366 | PTPRS | n.671+13C>G n.496+13C>G c.5361+13C>G (n.5361+13C>G) c.4020+13C>G (n.4020+13C>G) c.5247+13C>G (n.5247+13C>G) c.4032+13C>G (n.4032+13C>G) n.4302+13C>G c.5322+13C>G (n.5322+13C>G) c.5235+13C>G (n.5235+13C>G) c.4008+13C>G (n.4008+13C>G) c.5349+13C>G (n.5349+13C>G) c.5337+13C>G (n.5337+13C>G) c.5301+13C>G (n.5301+13C>G) c.5289+13C>G (n.5289+13C>G) c.5262+13C>G (n.5262+13C>G) c.4095+13C>G (n.4095+13C>G) c.4083+13C>G (n.4083+13C>G) c.4047+13C>G (n.4047+13C>G) c.4068+13C>G (n.4068+13C>G) c.2988+13C>G (n.2988+13C>G) c.5334+13C>G (n.5334+13C>G) c.5307+13C>G (n.5307+13C>G) c.5286+13C>G (n.5286+13C>G) c.5274+13C>G (n.5274+13C>G) c.4608+13C>G (n.4608+13C>G) c.4080+13C>G (n.4080+13C>G) c.5295+13C>G (n.5295+13C>G) | COSMIC |
19 | g.5210666G>T | CA2813394873 | PTPRS | n.671+13C>A n.496+13C>A c.5361+13C>A (n.5361+13C>A) c.4020+13C>A (n.4020+13C>A) c.5247+13C>A (n.5247+13C>A) c.4032+13C>A (n.4032+13C>A) n.4302+13C>A c.5322+13C>A (n.5322+13C>A) c.5235+13C>A (n.5235+13C>A) c.4008+13C>A (n.4008+13C>A) c.5349+13C>A (n.5349+13C>A) c.5337+13C>A (n.5337+13C>A) c.5301+13C>A (n.5301+13C>A) c.5289+13C>A (n.5289+13C>A) c.5262+13C>A (n.5262+13C>A) c.4095+13C>A (n.4095+13C>A) c.4083+13C>A (n.4083+13C>A) c.4047+13C>A (n.4047+13C>A) c.4068+13C>A (n.4068+13C>A) c.2988+13C>A (n.2988+13C>A) c.5334+13C>A (n.5334+13C>A) c.5307+13C>A (n.5307+13C>A) c.5286+13C>A (n.5286+13C>A) c.5274+13C>A (n.5274+13C>A) c.4608+13C>A (n.4608+13C>A) c.4080+13C>A (n.4080+13C>A) c.5295+13C>A (n.5295+13C>A) | |
19 | g.5210667C>A | CA2586524962 | PTPRS | n.671+12G>T n.496+12G>T c.5361+12G>T (n.5361+12G>T) c.4020+12G>T (n.4020+12G>T) c.5247+12G>T (n.5247+12G>T) c.4032+12G>T (n.4032+12G>T) n.4302+12G>T c.5322+12G>T (n.5322+12G>T) c.5235+12G>T (n.5235+12G>T) c.4008+12G>T (n.4008+12G>T) c.5349+12G>T (n.5349+12G>T) c.5337+12G>T (n.5337+12G>T) c.5301+12G>T (n.5301+12G>T) c.5289+12G>T (n.5289+12G>T) c.5262+12G>T (n.5262+12G>T) c.4095+12G>T (n.4095+12G>T) c.4083+12G>T (n.4083+12G>T) c.4047+12G>T (n.4047+12G>T) c.4068+12G>T (n.4068+12G>T) c.2988+12G>T (n.2988+12G>T) c.5334+12G>T (n.5334+12G>T) c.5307+12G>T (n.5307+12G>T) c.5286+12G>T (n.5286+12G>T) c.5274+12G>T (n.5274+12G>T) c.4608+12G>T (n.4608+12G>T) c.4080+12G>T (n.4080+12G>T) c.5295+12G>T (n.5295+12G>T) | gnomAD v4 |
19 | g.5210667C= | CA2319812186 | PTPRS | n.671+12G= n.496+12G= c.5361+12G= (n.5361+12G=) c.4020+12G= (n.4020+12G=) c.5247+12G= (n.5247+12G=) c.4032+12G= (n.4032+12G=) n.4302+12G= c.5322+12G= (n.5322+12G=) c.5235+12G= (n.5235+12G=) c.4008+12G= (n.4008+12G=) c.5349+12G= (n.5349+12G=) c.5337+12G= (n.5337+12G=) c.5301+12G= (n.5301+12G=) c.5289+12G= (n.5289+12G=) c.5262+12G= (n.5262+12G=) c.4095+12G= (n.4095+12G=) c.4083+12G= (n.4083+12G=) c.4047+12G= (n.4047+12G=) c.4068+12G= (n.4068+12G=) c.2988+12G= (n.2988+12G=) c.5334+12G= (n.5334+12G=) c.5307+12G= (n.5307+12G=) c.5286+12G= (n.5286+12G=) c.5274+12G= (n.5274+12G=) c.4608+12G= (n.4608+12G=) c.4080+12G= (n.4080+12G=) c.5295+12G= (n.5295+12G=) | |
19 | g.5210667C>G | CA9108760 | PTPRS | n.671+12G>C n.496+12G>C c.5361+12G>C (n.5361+12G>C) c.4020+12G>C (n.4020+12G>C) c.5247+12G>C (n.5247+12G>C) c.4032+12G>C (n.4032+12G>C) n.4302+12G>C c.5322+12G>C (n.5322+12G>C) c.5235+12G>C (n.5235+12G>C) c.4008+12G>C (n.4008+12G>C) c.5349+12G>C (n.5349+12G>C) c.5337+12G>C (n.5337+12G>C) c.5301+12G>C (n.5301+12G>C) c.5289+12G>C (n.5289+12G>C) c.5262+12G>C (n.5262+12G>C) c.4095+12G>C (n.4095+12G>C) c.4083+12G>C (n.4083+12G>C) c.4047+12G>C (n.4047+12G>C) c.4068+12G>C (n.4068+12G>C) c.2988+12G>C (n.2988+12G>C) c.5334+12G>C (n.5334+12G>C) c.5307+12G>C (n.5307+12G>C) c.5286+12G>C (n.5286+12G>C) c.5274+12G>C (n.5274+12G>C) c.4608+12G>C (n.4608+12G>C) c.4080+12G>C (n.4080+12G>C) c.5295+12G>C (n.5295+12G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.5210667C>T | CA2813394874 | PTPRS | n.671+12G>A n.496+12G>A c.5361+12G>A (n.5361+12G>A) c.4020+12G>A (n.4020+12G>A) c.5247+12G>A (n.5247+12G>A) c.4032+12G>A (n.4032+12G>A) n.4302+12G>A c.5322+12G>A (n.5322+12G>A) c.5235+12G>A (n.5235+12G>A) c.4008+12G>A (n.4008+12G>A) c.5349+12G>A (n.5349+12G>A) c.5337+12G>A (n.5337+12G>A) c.5301+12G>A (n.5301+12G>A) c.5289+12G>A (n.5289+12G>A) c.5262+12G>A (n.5262+12G>A) c.4095+12G>A (n.4095+12G>A) c.4083+12G>A (n.4083+12G>A) c.4047+12G>A (n.4047+12G>A) c.4068+12G>A (n.4068+12G>A) c.2988+12G>A (n.2988+12G>A) c.5334+12G>A (n.5334+12G>A) c.5307+12G>A (n.5307+12G>A) c.5286+12G>A (n.5286+12G>A) c.5274+12G>A (n.5274+12G>A) c.4608+12G>A (n.4608+12G>A) c.4080+12G>A (n.4080+12G>A) c.5295+12G>A (n.5295+12G>A) | |
19 | g.5210668C>A | CA2586524963 | PTPRS | n.671+11G>T n.496+11G>T c.5361+11G>T (n.5361+11G>T) c.4020+11G>T (n.4020+11G>T) c.5247+11G>T (n.5247+11G>T) c.4032+11G>T (n.4032+11G>T) n.4302+11G>T c.5322+11G>T (n.5322+11G>T) c.5235+11G>T (n.5235+11G>T) c.4008+11G>T (n.4008+11G>T) c.5349+11G>T (n.5349+11G>T) c.5337+11G>T (n.5337+11G>T) c.5301+11G>T (n.5301+11G>T) c.5289+11G>T (n.5289+11G>T) c.5262+11G>T (n.5262+11G>T) c.4095+11G>T (n.4095+11G>T) c.4083+11G>T (n.4083+11G>T) c.4047+11G>T (n.4047+11G>T) c.4068+11G>T (n.4068+11G>T) c.2988+11G>T (n.2988+11G>T) c.5334+11G>T (n.5334+11G>T) c.5307+11G>T (n.5307+11G>T) c.5286+11G>T (n.5286+11G>T) c.5274+11G>T (n.5274+11G>T) c.4608+11G>T (n.4608+11G>T) c.4080+11G>T (n.4080+11G>T) c.5295+11G>T (n.5295+11G>T) | gnomAD v4 |
19 | g.5210669C>A | CA9108761 | PTPRS | n.671+10G>T n.496+10G>T c.5361+10G>T (n.5361+10G>T) c.4020+10G>T (n.4020+10G>T) c.5247+10G>T (n.5247+10G>T) c.4032+10G>T (n.4032+10G>T) n.4302+10G>T c.5322+10G>T (n.5322+10G>T) c.5235+10G>T (n.5235+10G>T) c.4008+10G>T (n.4008+10G>T) c.5349+10G>T (n.5349+10G>T) c.5337+10G>T (n.5337+10G>T) c.5301+10G>T (n.5301+10G>T) c.5289+10G>T (n.5289+10G>T) c.5262+10G>T (n.5262+10G>T) c.4095+10G>T (n.4095+10G>T) c.4083+10G>T (n.4083+10G>T) c.4047+10G>T (n.4047+10G>T) c.4068+10G>T (n.4068+10G>T) c.2988+10G>T (n.2988+10G>T) c.5334+10G>T (n.5334+10G>T) c.5307+10G>T (n.5307+10G>T) c.5286+10G>T (n.5286+10G>T) c.5274+10G>T (n.5274+10G>T) c.4608+10G>T (n.4608+10G>T) c.4080+10G>T (n.4080+10G>T) c.5295+10G>T (n.5295+10G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.5210669C= | CA2319812187 | PTPRS | n.671+10G= n.496+10G= c.5361+10G= (n.5361+10G=) c.4020+10G= (n.4020+10G=) c.5247+10G= (n.5247+10G=) c.4032+10G= (n.4032+10G=) n.4302+10G= c.5322+10G= (n.5322+10G=) c.5235+10G= (n.5235+10G=) c.4008+10G= (n.4008+10G=) c.5349+10G= (n.5349+10G=) c.5337+10G= (n.5337+10G=) c.5301+10G= (n.5301+10G=) c.5289+10G= (n.5289+10G=) c.5262+10G= (n.5262+10G=) c.4095+10G= (n.4095+10G=) c.4083+10G= (n.4083+10G=) c.4047+10G= (n.4047+10G=) c.4068+10G= (n.4068+10G=) c.2988+10G= (n.2988+10G=) c.5334+10G= (n.5334+10G=) c.5307+10G= (n.5307+10G=) c.5286+10G= (n.5286+10G=) c.5274+10G= (n.5274+10G=) c.4608+10G= (n.4608+10G=) c.4080+10G= (n.4080+10G=) c.5295+10G= (n.5295+10G=) | |
19 | g.5210669C>T | CA631717787 | PTPRS | n.671+10G>A n.496+10G>A c.5361+10G>A (n.5361+10G>A) c.4020+10G>A (n.4020+10G>A) c.5247+10G>A (n.5247+10G>A) c.4032+10G>A (n.4032+10G>A) n.4302+10G>A c.5322+10G>A (n.5322+10G>A) c.5235+10G>A (n.5235+10G>A) c.4008+10G>A (n.4008+10G>A) c.5349+10G>A (n.5349+10G>A) c.5337+10G>A (n.5337+10G>A) c.5301+10G>A (n.5301+10G>A) c.5289+10G>A (n.5289+10G>A) c.5262+10G>A (n.5262+10G>A) c.4095+10G>A (n.4095+10G>A) c.4083+10G>A (n.4083+10G>A) c.4047+10G>A (n.4047+10G>A) c.4068+10G>A (n.4068+10G>A) c.2988+10G>A (n.2988+10G>A) c.5334+10G>A (n.5334+10G>A) c.5307+10G>A (n.5307+10G>A) c.5286+10G>A (n.5286+10G>A) c.5274+10G>A (n.5274+10G>A) c.4608+10G>A (n.4608+10G>A) c.4080+10G>A (n.4080+10G>A) c.5295+10G>A (n.5295+10G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.5210670C>G | CA2586524964 | PTPRS | n.671+9G>C n.496+9G>C c.5361+9G>C (n.5361+9G>C) c.4020+9G>C (n.4020+9G>C) c.5247+9G>C (n.5247+9G>C) c.4032+9G>C (n.4032+9G>C) n.4302+9G>C c.5322+9G>C (n.5322+9G>C) c.5235+9G>C (n.5235+9G>C) c.4008+9G>C (n.4008+9G>C) c.5349+9G>C (n.5349+9G>C) c.5337+9G>C (n.5337+9G>C) c.5301+9G>C (n.5301+9G>C) c.5289+9G>C (n.5289+9G>C) c.5262+9G>C (n.5262+9G>C) c.4095+9G>C (n.4095+9G>C) c.4083+9G>C (n.4083+9G>C) c.4047+9G>C (n.4047+9G>C) c.4068+9G>C (n.4068+9G>C) c.2988+9G>C (n.2988+9G>C) c.5334+9G>C (n.5334+9G>C) c.5307+9G>C (n.5307+9G>C) c.5286+9G>C (n.5286+9G>C) c.5274+9G>C (n.5274+9G>C) c.4608+9G>C (n.4608+9G>C) c.4080+9G>C (n.4080+9G>C) c.5295+9G>C (n.5295+9G>C) | gnomAD v4 |
19 | g.5210670_5210671delinsCT | CA2319812188 | PTPRS | n.671+8_671+9delinsAG n.496+8_496+9delinsAG c.5361+8_5361+9delinsAG (n.5361+8_5361+9delinsAG) c.4020+8_4020+9delinsAG (n.4020+8_4020+9delinsAG) c.5247+8_5247+9delinsAG (n.5247+8_5247+9delinsAG) c.4032+8_4032+9delinsAG (n.4032+8_4032+9delinsAG) n.4302+8_4302+9delinsAG c.5322+8_5322+9delinsAG (n.5322+8_5322+9delinsAG) c.5235+8_5235+9delinsAG (n.5235+8_5235+9delinsAG) c.4008+8_4008+9delinsAG (n.4008+8_4008+9delinsAG) c.5349+8_5349+9delinsAG (n.5349+8_5349+9delinsAG) c.5337+8_5337+9delinsAG (n.5337+8_5337+9delinsAG) c.5301+8_5301+9delinsAG (n.5301+8_5301+9delinsAG) c.5289+8_5289+9delinsAG (n.5289+8_5289+9delinsAG) c.5262+8_5262+9delinsAG (n.5262+8_5262+9delinsAG) c.4095+8_4095+9delinsAG (n.4095+8_4095+9delinsAG) c.4083+8_4083+9delinsAG (n.4083+8_4083+9delinsAG) c.4047+8_4047+9delinsAG (n.4047+8_4047+9delinsAG) c.4068+8_4068+9delinsAG (n.4068+8_4068+9delinsAG) c.2988+8_2988+9delinsAG (n.2988+8_2988+9delinsAG) c.5334+8_5334+9delinsAG (n.5334+8_5334+9delinsAG) c.5307+8_5307+9delinsAG (n.5307+8_5307+9delinsAG) c.5286+8_5286+9delinsAG (n.5286+8_5286+9delinsAG) c.5274+8_5274+9delinsAG (n.5274+8_5274+9delinsAG) c.4608+8_4608+9delinsAG (n.4608+8_4608+9delinsAG) c.4080+8_4080+9delinsAG (n.4080+8_4080+9delinsAG) c.5295+8_5295+9delinsAG (n.5295+8_5295+9delinsAG) | |
19 | g.5210671del | CA631717788 | PTPRS | n.671+8del n.496+8del c.5361+8del (n.5361+8del) c.4020+8del (n.4020+8del) c.5247+8del (n.5247+8del) c.4032+8del (n.4032+8del) n.4302+8del c.5322+8del (n.5322+8del) c.5235+8del (n.5235+8del) c.4008+8del (n.4008+8del) c.5349+8del (n.5349+8del) c.5337+8del (n.5337+8del) c.5301+8del (n.5301+8del) c.5289+8del (n.5289+8del) c.5262+8del (n.5262+8del) c.4095+8del (n.4095+8del) c.4083+8del (n.4083+8del) c.4047+8del (n.4047+8del) c.4068+8del (n.4068+8del) c.2988+8del (n.2988+8del) c.5334+8del (n.5334+8del) c.5307+8del (n.5307+8del) c.5286+8del (n.5286+8del) c.5274+8del (n.5274+8del) c.4608+8del (n.4608+8del) c.4080+8del (n.4080+8del) c.5295+8del (n.5295+8del) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.5210672A>G | CA2586524965 | PTPRS | n.671+7T>C n.496+7T>C c.5361+7T>C (n.5361+7T>C) c.4020+7T>C (n.4020+7T>C) c.5247+7T>C (n.5247+7T>C) c.4032+7T>C (n.4032+7T>C) n.4302+7T>C c.5322+7T>C (n.5322+7T>C) c.5235+7T>C (n.5235+7T>C) c.4008+7T>C (n.4008+7T>C) c.5349+7T>C (n.5349+7T>C) c.5337+7T>C (n.5337+7T>C) c.5301+7T>C (n.5301+7T>C) c.5289+7T>C (n.5289+7T>C) c.5262+7T>C (n.5262+7T>C) c.4095+7T>C (n.4095+7T>C) c.4083+7T>C (n.4083+7T>C) c.4047+7T>C (n.4047+7T>C) c.4068+7T>C (n.4068+7T>C) c.2988+7T>C (n.2988+7T>C) c.5334+7T>C (n.5334+7T>C) c.5307+7T>C (n.5307+7T>C) c.5286+7T>C (n.5286+7T>C) c.5274+7T>C (n.5274+7T>C) c.4608+7T>C (n.4608+7T>C) c.4080+7T>C (n.4080+7T>C) c.5295+7T>C (n.5295+7T>C) | gnomAD v4 |
19 | g.5210674C>G | CA2586524966 | PTPRS | n.671+5G>C n.496+5G>C c.5361+5G>C (n.5361+5G>C) c.4020+5G>C (n.4020+5G>C) c.5247+5G>C (n.5247+5G>C) c.4032+5G>C (n.4032+5G>C) n.4302+5G>C c.5322+5G>C (n.5322+5G>C) c.5235+5G>C (n.5235+5G>C) c.4008+5G>C (n.4008+5G>C) c.5349+5G>C (n.5349+5G>C) c.5337+5G>C (n.5337+5G>C) c.5301+5G>C (n.5301+5G>C) c.5289+5G>C (n.5289+5G>C) c.5262+5G>C (n.5262+5G>C) c.4095+5G>C (n.4095+5G>C) c.4083+5G>C (n.4083+5G>C) c.4047+5G>C (n.4047+5G>C) c.4068+5G>C (n.4068+5G>C) c.2988+5G>C (n.2988+5G>C) c.5334+5G>C (n.5334+5G>C) c.5307+5G>C (n.5307+5G>C) c.5286+5G>C (n.5286+5G>C) c.5274+5G>C (n.5274+5G>C) c.4608+5G>C (n.4608+5G>C) c.4080+5G>C (n.4080+5G>C) c.5295+5G>C (n.5295+5G>C) | gnomAD v4 |
19 | g.5210676C= | CA2319812189 | PTPRS | n.671+3G= n.496+3G= c.5361+3G= (n.5361+3G=) c.4020+3G= (n.4020+3G=) c.5247+3G= (n.5247+3G=) c.4032+3G= (n.4032+3G=) n.4302+3G= c.5322+3G= (n.5322+3G=) c.5235+3G= (n.5235+3G=) c.4008+3G= (n.4008+3G=) c.5349+3G= (n.5349+3G=) c.5337+3G= (n.5337+3G=) c.5301+3G= (n.5301+3G=) c.5289+3G= (n.5289+3G=) c.5262+3G= (n.5262+3G=) c.4095+3G= (n.4095+3G=) c.4083+3G= (n.4083+3G=) c.4047+3G= (n.4047+3G=) c.4068+3G= (n.4068+3G=) c.2988+3G= (n.2988+3G=) c.5334+3G= (n.5334+3G=) c.5307+3G= (n.5307+3G=) c.5286+3G= (n.5286+3G=) c.5274+3G= (n.5274+3G=) c.4608+3G= (n.4608+3G=) c.4080+3G= (n.4080+3G=) c.5295+3G= (n.5295+3G=) | |
19 | g.5210676C>T | CA9108762 | PTPRS | n.671+3G>A n.496+3G>A c.5361+3G>A (n.5361+3G>A) c.4020+3G>A (n.4020+3G>A) c.5247+3G>A (n.5247+3G>A) c.4032+3G>A (n.4032+3G>A) n.4302+3G>A c.5322+3G>A (n.5322+3G>A) c.5235+3G>A (n.5235+3G>A) c.4008+3G>A (n.4008+3G>A) c.5349+3G>A (n.5349+3G>A) c.5337+3G>A (n.5337+3G>A) c.5301+3G>A (n.5301+3G>A) c.5289+3G>A (n.5289+3G>A) c.5262+3G>A (n.5262+3G>A) c.4095+3G>A (n.4095+3G>A) c.4083+3G>A (n.4083+3G>A) c.4047+3G>A (n.4047+3G>A) c.4068+3G>A (n.4068+3G>A) c.2988+3G>A (n.2988+3G>A) c.5334+3G>A (n.5334+3G>A) c.5307+3G>A (n.5307+3G>A) c.5286+3G>A (n.5286+3G>A) c.5274+3G>A (n.5274+3G>A) c.4608+3G>A (n.4608+3G>A) c.4080+3G>A (n.4080+3G>A) c.5295+3G>A (n.5295+3G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.5210677A>C | CA403501840 | PTPRS | n.671+2T>G n.496+2T>G c.5361+2T>G (n.5361+2T>G) c.4020+2T>G (n.4020+2T>G) c.5247+2T>G (n.5247+2T>G) c.4032+2T>G (n.4032+2T>G) n.4302+2T>G c.5322+2T>G (n.5322+2T>G) c.5235+2T>G (n.5235+2T>G) c.4008+2T>G (n.4008+2T>G) c.5349+2T>G (n.5349+2T>G) c.5337+2T>G (n.5337+2T>G) c.5301+2T>G (n.5301+2T>G) c.5289+2T>G (n.5289+2T>G) c.5262+2T>G (n.5262+2T>G) c.4095+2T>G (n.4095+2T>G) c.4083+2T>G (n.4083+2T>G) c.4047+2T>G (n.4047+2T>G) c.4068+2T>G (n.4068+2T>G) c.2988+2T>G (n.2988+2T>G) c.5334+2T>G (n.5334+2T>G) c.5307+2T>G (n.5307+2T>G) c.5286+2T>G (n.5286+2T>G) c.5274+2T>G (n.5274+2T>G) c.4608+2T>G (n.4608+2T>G) c.4080+2T>G (n.4080+2T>G) c.5295+2T>G (n.5295+2T>G) | |
19 | g.5210677A>G | CA403501842 | PTPRS | n.671+2T>C n.496+2T>C c.5361+2T>C (n.5361+2T>C) c.4020+2T>C (n.4020+2T>C) c.5247+2T>C (n.5247+2T>C) c.4032+2T>C (n.4032+2T>C) n.4302+2T>C c.5322+2T>C (n.5322+2T>C) c.5235+2T>C (n.5235+2T>C) c.4008+2T>C (n.4008+2T>C) c.5349+2T>C (n.5349+2T>C) c.5337+2T>C (n.5337+2T>C) c.5301+2T>C (n.5301+2T>C) c.5289+2T>C (n.5289+2T>C) c.5262+2T>C (n.5262+2T>C) c.4095+2T>C (n.4095+2T>C) c.4083+2T>C (n.4083+2T>C) c.4047+2T>C (n.4047+2T>C) c.4068+2T>C (n.4068+2T>C) c.2988+2T>C (n.2988+2T>C) c.5334+2T>C (n.5334+2T>C) c.5307+2T>C (n.5307+2T>C) c.5286+2T>C (n.5286+2T>C) c.5274+2T>C (n.5274+2T>C) c.4608+2T>C (n.4608+2T>C) c.4080+2T>C (n.4080+2T>C) c.5295+2T>C (n.5295+2T>C) | |
19 | g.5210677A>T | CA403501843 | PTPRS | n.671+2T>A n.496+2T>A c.5361+2T>A (n.5361+2T>A) c.4020+2T>A (n.4020+2T>A) c.5247+2T>A (n.5247+2T>A) c.4032+2T>A (n.4032+2T>A) n.4302+2T>A c.5322+2T>A (n.5322+2T>A) c.5235+2T>A (n.5235+2T>A) c.4008+2T>A (n.4008+2T>A) c.5349+2T>A (n.5349+2T>A) c.5337+2T>A (n.5337+2T>A) c.5301+2T>A (n.5301+2T>A) c.5289+2T>A (n.5289+2T>A) c.5262+2T>A (n.5262+2T>A) c.4095+2T>A (n.4095+2T>A) c.4083+2T>A (n.4083+2T>A) c.4047+2T>A (n.4047+2T>A) c.4068+2T>A (n.4068+2T>A) c.2988+2T>A (n.2988+2T>A) c.5334+2T>A (n.5334+2T>A) c.5307+2T>A (n.5307+2T>A) c.5286+2T>A (n.5286+2T>A) c.5274+2T>A (n.5274+2T>A) c.4608+2T>A (n.4608+2T>A) c.4080+2T>A (n.4080+2T>A) c.5295+2T>A (n.5295+2T>A) | |
19 | g.5210678C>A | CA403501844 | PTPRS | n.671+1G>T n.496+1G>T c.5361+1G>T (n.5361+1G>T) c.4020+1G>T (n.4020+1G>T) c.5247+1G>T (n.5247+1G>T) c.4032+1G>T (n.4032+1G>T) n.4302+1G>T c.5322+1G>T (n.5322+1G>T) c.5235+1G>T (n.5235+1G>T) c.4008+1G>T (n.4008+1G>T) c.5349+1G>T (n.5349+1G>T) c.5337+1G>T (n.5337+1G>T) c.5301+1G>T (n.5301+1G>T) c.5289+1G>T (n.5289+1G>T) c.5262+1G>T (n.5262+1G>T) c.4095+1G>T (n.4095+1G>T) c.4083+1G>T (n.4083+1G>T) c.4047+1G>T (n.4047+1G>T) c.4068+1G>T (n.4068+1G>T) c.2988+1G>T (n.2988+1G>T) c.5334+1G>T (n.5334+1G>T) c.5307+1G>T (n.5307+1G>T) c.5286+1G>T (n.5286+1G>T) c.5274+1G>T (n.5274+1G>T) c.4608+1G>T (n.4608+1G>T) c.4080+1G>T (n.4080+1G>T) c.5295+1G>T (n.5295+1G>T) | |
19 | g.5210678C>G | CA403501846 | PTPRS | n.671+1G>C n.496+1G>C c.5361+1G>C (n.5361+1G>C) c.4020+1G>C (n.4020+1G>C) c.5247+1G>C (n.5247+1G>C) c.4032+1G>C (n.4032+1G>C) n.4302+1G>C c.5322+1G>C (n.5322+1G>C) c.5235+1G>C (n.5235+1G>C) c.4008+1G>C (n.4008+1G>C) c.5349+1G>C (n.5349+1G>C) c.5337+1G>C (n.5337+1G>C) c.5301+1G>C (n.5301+1G>C) c.5289+1G>C (n.5289+1G>C) c.5262+1G>C (n.5262+1G>C) c.4095+1G>C (n.4095+1G>C) c.4083+1G>C (n.4083+1G>C) c.4047+1G>C (n.4047+1G>C) c.4068+1G>C (n.4068+1G>C) c.2988+1G>C (n.2988+1G>C) c.5334+1G>C (n.5334+1G>C) c.5307+1G>C (n.5307+1G>C) c.5286+1G>C (n.5286+1G>C) c.5274+1G>C (n.5274+1G>C) c.4608+1G>C (n.4608+1G>C) c.4080+1G>C (n.4080+1G>C) c.5295+1G>C (n.5295+1G>C) | |
19 | g.5210678C>T | CA403501847 | PTPRS | n.671+1G>A n.496+1G>A c.5361+1G>A (n.5361+1G>A) c.4020+1G>A (n.4020+1G>A) c.5247+1G>A (n.5247+1G>A) c.4032+1G>A (n.4032+1G>A) n.4302+1G>A c.5322+1G>A (n.5322+1G>A) c.5235+1G>A (n.5235+1G>A) c.4008+1G>A (n.4008+1G>A) c.5349+1G>A (n.5349+1G>A) c.5337+1G>A (n.5337+1G>A) c.5301+1G>A (n.5301+1G>A) c.5289+1G>A (n.5289+1G>A) c.5262+1G>A (n.5262+1G>A) c.4095+1G>A (n.4095+1G>A) c.4083+1G>A (n.4083+1G>A) c.4047+1G>A (n.4047+1G>A) c.4068+1G>A (n.4068+1G>A) c.2988+1G>A (n.2988+1G>A) c.5334+1G>A (n.5334+1G>A) c.5307+1G>A (n.5307+1G>A) c.5286+1G>A (n.5286+1G>A) c.5274+1G>A (n.5274+1G>A) c.4608+1G>A (n.4608+1G>A) c.4080+1G>A (n.4080+1G>A) c.5295+1G>A (n.5295+1G>A) | |
19 | g.5210679C>A | CA505177026 | PTPRS | n.671G>T n.496G>T c.5361G>T (p.Arg1787=) c.4020G>T (p.Arg1340=) c.5247G>T (p.Arg1749=) c.4032G>T (p.Arg1344=) n.4302G>T c.5322G>T (p.Arg1774=) c.5235G>T (p.Arg1745=) c.4008G>T (p.Arg1336=) c.5349G>T (p.Arg1783=) c.5337G>T (p.Arg1779=) c.5301G>T (p.Arg1767=) c.5289G>T (p.Arg1763=) c.5262G>T (p.Arg1754=) c.4095G>T (p.Arg1365=) c.4083G>T (p.Arg1361=) c.4047G>T (p.Arg1349=) c.4068G>T (p.Arg1356=) c.2988G>T (p.Arg996=) c.5334G>T (p.Arg1778=) c.5307G>T (p.Arg1769=) c.5286G>T (p.Arg1762=) c.5274G>T (p.Arg1758=) c.4608G>T (p.Arg1536=) c.4080G>T (p.Arg1360=) c.5295G>T (p.Arg1765=) | |
19 | g.5210679C>G | CA505177027 | PTPRS | n.671G>C n.496G>C c.5361G>C (p.Arg1787=) c.4020G>C (p.Arg1340=) c.5247G>C (p.Arg1749=) c.4032G>C (p.Arg1344=) n.4302G>C c.5322G>C (p.Arg1774=) c.5235G>C (p.Arg1745=) c.4008G>C (p.Arg1336=) c.5349G>C (p.Arg1783=) c.5337G>C (p.Arg1779=) c.5301G>C (p.Arg1767=) c.5289G>C (p.Arg1763=) c.5262G>C (p.Arg1754=) c.4095G>C (p.Arg1365=) c.4083G>C (p.Arg1361=) c.4047G>C (p.Arg1349=) c.4068G>C (p.Arg1356=) c.2988G>C (p.Arg996=) c.5334G>C (p.Arg1778=) c.5307G>C (p.Arg1769=) c.5286G>C (p.Arg1762=) c.5274G>C (p.Arg1758=) c.4608G>C (p.Arg1536=) c.4080G>C (p.Arg1360=) c.5295G>C (p.Arg1765=) | |
19 | g.5210679C>T | CA505177028 | PTPRS | n.671G>A n.496G>A c.5361G>A (p.Arg1787=) c.4020G>A (p.Arg1340=) c.5247G>A (p.Arg1749=) c.4032G>A (p.Arg1344=) n.4302G>A c.5322G>A (p.Arg1774=) c.5235G>A (p.Arg1745=) c.4008G>A (p.Arg1336=) c.5349G>A (p.Arg1783=) c.5337G>A (p.Arg1779=) c.5301G>A (p.Arg1767=) c.5289G>A (p.Arg1763=) c.5262G>A (p.Arg1754=) c.4095G>A (p.Arg1365=) c.4083G>A (p.Arg1361=) c.4047G>A (p.Arg1349=) c.4068G>A (p.Arg1356=) c.2988G>A (p.Arg996=) c.5334G>A (p.Arg1778=) c.5307G>A (p.Arg1769=) c.5286G>A (p.Arg1762=) c.5274G>A (p.Arg1758=) c.4608G>A (p.Arg1536=) c.4080G>A (p.Arg1360=) c.5295G>A (p.Arg1765=) | |
19 | g.5210680C>A | CA403501849 | PTPRS | n.670G>T n.495G>T c.5360G>T (p.Arg1787Leu) c.4019G>T (p.Arg1340Leu) c.5246G>T (p.Arg1749Leu) c.4031G>T (p.Arg1344Leu) n.4301G>T c.5321G>T (p.Arg1774Leu) c.5234G>T (p.Arg1745Leu) c.4007G>T (p.Arg1336Leu) c.5348G>T (p.Arg1783Leu) c.5336G>T (p.Arg1779Leu) c.5300G>T (p.Arg1767Leu) c.5288G>T (p.Arg1763Leu) c.5261G>T (p.Arg1754Leu) c.4094G>T (p.Arg1365Leu) c.4082G>T (p.Arg1361Leu) c.4046G>T (p.Arg1349Leu) c.4067G>T (p.Arg1356Leu) c.2987G>T (p.Arg996Leu) c.5333G>T (p.Arg1778Leu) c.5306G>T (p.Arg1769Leu) c.5285G>T (p.Arg1762Leu) c.5273G>T (p.Arg1758Leu) c.4607G>T (p.Arg1536Leu) c.4079G>T (p.Arg1360Leu) c.5294G>T (p.Arg1765Leu) | |
19 | g.5210680C>G | CA403501850 | PTPRS | n.670G>C n.495G>C c.5360G>C (p.Arg1787Pro) c.4019G>C (p.Arg1340Pro) c.5246G>C (p.Arg1749Pro) c.4031G>C (p.Arg1344Pro) n.4301G>C c.5321G>C (p.Arg1774Pro) c.5234G>C (p.Arg1745Pro) c.4007G>C (p.Arg1336Pro) c.5348G>C (p.Arg1783Pro) c.5336G>C (p.Arg1779Pro) c.5300G>C (p.Arg1767Pro) c.5288G>C (p.Arg1763Pro) c.5261G>C (p.Arg1754Pro) c.4094G>C (p.Arg1365Pro) c.4082G>C (p.Arg1361Pro) c.4046G>C (p.Arg1349Pro) c.4067G>C (p.Arg1356Pro) c.2987G>C (p.Arg996Pro) c.5333G>C (p.Arg1778Pro) c.5306G>C (p.Arg1769Pro) c.5285G>C (p.Arg1762Pro) c.5273G>C (p.Arg1758Pro) c.4607G>C (p.Arg1536Pro) c.4079G>C (p.Arg1360Pro) c.5294G>C (p.Arg1765Pro) | |
19 | g.5210680C>T | CA403501852 | PTPRS | n.670G>A n.495G>A c.5360G>A (p.Arg1787Gln) c.4019G>A (p.Arg1340Gln) c.5246G>A (p.Arg1749Gln) c.4031G>A (p.Arg1344Gln) n.4301G>A c.5321G>A (p.Arg1774Gln) c.5234G>A (p.Arg1745Gln) c.4007G>A (p.Arg1336Gln) c.5348G>A (p.Arg1783Gln) c.5336G>A (p.Arg1779Gln) c.5300G>A (p.Arg1767Gln) c.5288G>A (p.Arg1763Gln) c.5261G>A (p.Arg1754Gln) c.4094G>A (p.Arg1365Gln) c.4082G>A (p.Arg1361Gln) c.4046G>A (p.Arg1349Gln) c.4067G>A (p.Arg1356Gln) c.2987G>A (p.Arg996Gln) c.5333G>A (p.Arg1778Gln) c.5306G>A (p.Arg1769Gln) c.5285G>A (p.Arg1762Gln) c.5273G>A (p.Arg1758Gln) c.4607G>A (p.Arg1536Gln) c.4079G>A (p.Arg1360Gln) c.5294G>A (p.Arg1765Gln) | gnomAD v4 |
19 | g.5210681G>A | CA403501854 | PTPRS | n.669C>T n.494C>T c.5359C>T (p.Arg1787Trp) c.4018C>T (p.Arg1340Trp) c.5245C>T (p.Arg1749Trp) c.4030C>T (p.Arg1344Trp) n.4300C>T c.5320C>T (p.Arg1774Trp) c.5233C>T (p.Arg1745Trp) c.4006C>T (p.Arg1336Trp) c.5347C>T (p.Arg1783Trp) c.5335C>T (p.Arg1779Trp) c.5299C>T (p.Arg1767Trp) c.5287C>T (p.Arg1763Trp) c.5260C>T (p.Arg1754Trp) c.4093C>T (p.Arg1365Trp) c.4081C>T (p.Arg1361Trp) c.4045C>T (p.Arg1349Trp) c.4066C>T (p.Arg1356Trp) c.2986C>T (p.Arg996Trp) c.5332C>T (p.Arg1778Trp) c.5305C>T (p.Arg1769Trp) c.5284C>T (p.Arg1762Trp) c.5272C>T (p.Arg1758Trp) c.4606C>T (p.Arg1536Trp) c.4078C>T (p.Arg1360Trp) c.5293C>T (p.Arg1765Trp) | gnomAD v4 |
19 | g.5210681G>C | CA403501853 | PTPRS | n.669C>G n.494C>G c.5359C>G (p.Arg1787Gly) c.4018C>G (p.Arg1340Gly) c.5245C>G (p.Arg1749Gly) c.4030C>G (p.Arg1344Gly) n.4300C>G c.5320C>G (p.Arg1774Gly) c.5233C>G (p.Arg1745Gly) c.4006C>G (p.Arg1336Gly) c.5347C>G (p.Arg1783Gly) c.5335C>G (p.Arg1779Gly) c.5299C>G (p.Arg1767Gly) c.5287C>G (p.Arg1763Gly) c.5260C>G (p.Arg1754Gly) c.4093C>G (p.Arg1365Gly) c.4081C>G (p.Arg1361Gly) c.4045C>G (p.Arg1349Gly) c.4066C>G (p.Arg1356Gly) c.2986C>G (p.Arg996Gly) c.5332C>G (p.Arg1778Gly) c.5305C>G (p.Arg1769Gly) c.5284C>G (p.Arg1762Gly) c.5272C>G (p.Arg1758Gly) c.4606C>G (p.Arg1536Gly) c.4078C>G (p.Arg1360Gly) c.5293C>G (p.Arg1765Gly) | |
19 | g.5210681G>T | CA505177029 | PTPRS | n.669C>A n.494C>A c.5359C>A (p.Arg1787=) c.4018C>A (p.Arg1340=) c.5245C>A (p.Arg1749=) c.4030C>A (p.Arg1344=) n.4300C>A c.5320C>A (p.Arg1774=) c.5233C>A (p.Arg1745=) c.4006C>A (p.Arg1336=) c.5347C>A (p.Arg1783=) c.5335C>A (p.Arg1779=) c.5299C>A (p.Arg1767=) c.5287C>A (p.Arg1763=) c.5260C>A (p.Arg1754=) c.4093C>A (p.Arg1365=) c.4081C>A (p.Arg1361=) c.4045C>A (p.Arg1349=) c.4066C>A (p.Arg1356=) c.2986C>A (p.Arg996=) c.5332C>A (p.Arg1778=) c.5305C>A (p.Arg1769=) c.5284C>A (p.Arg1762=) c.5272C>A (p.Arg1758=) c.4606C>A (p.Arg1536=) c.4078C>A (p.Arg1360=) c.5293C>A (p.Arg1765=) | |
19 | g.5210682G>A | CA505177032 | PTPRS | n.668C>T n.493C>T c.5358C>T (p.Gly1786=) c.4017C>T (p.Gly1339=) c.5244C>T (p.Gly1748=) c.4029C>T (p.Gly1343=) n.4299C>T c.5319C>T (p.Gly1773=) c.5232C>T (p.Gly1744=) c.4005C>T (p.Gly1335=) c.5346C>T (p.Gly1782=) c.5334C>T (p.Gly1778=) c.5298C>T (p.Gly1766=) c.5286C>T (p.Gly1762=) c.5259C>T (p.Gly1753=) c.4092C>T (p.Gly1364=) c.4080C>T (p.Gly1360=) c.4044C>T (p.Gly1348=) c.4065C>T (p.Gly1355=) c.2985C>T (p.Gly995=) c.5331C>T (p.Gly1777=) c.5304C>T (p.Gly1768=) c.5283C>T (p.Gly1761=) c.5271C>T (p.Gly1757=) c.4605C>T (p.Gly1535=) c.4077C>T (p.Gly1359=) c.5292C>T (p.Gly1764=) | |
19 | g.5210682G>C | CA505177030 | PTPRS | n.668C>G n.493C>G c.5358C>G (p.Gly1786=) c.4017C>G (p.Gly1339=) c.5244C>G (p.Gly1748=) c.4029C>G (p.Gly1343=) n.4299C>G c.5319C>G (p.Gly1773=) c.5232C>G (p.Gly1744=) c.4005C>G (p.Gly1335=) c.5346C>G (p.Gly1782=) c.5334C>G (p.Gly1778=) c.5298C>G (p.Gly1766=) c.5286C>G (p.Gly1762=) c.5259C>G (p.Gly1753=) c.4092C>G (p.Gly1364=) c.4080C>G (p.Gly1360=) c.4044C>G (p.Gly1348=) c.4065C>G (p.Gly1355=) c.2985C>G (p.Gly995=) c.5331C>G (p.Gly1777=) c.5304C>G (p.Gly1768=) c.5283C>G (p.Gly1761=) c.5271C>G (p.Gly1757=) c.4605C>G (p.Gly1535=) c.4077C>G (p.Gly1359=) c.5292C>G (p.Gly1764=) | |
19 | g.5210682G>T | CA505177031 | PTPRS | n.668C>A n.493C>A c.5358C>A (p.Gly1786=) c.4017C>A (p.Gly1339=) c.5244C>A (p.Gly1748=) c.4029C>A (p.Gly1343=) n.4299C>A c.5319C>A (p.Gly1773=) c.5232C>A (p.Gly1744=) c.4005C>A (p.Gly1335=) c.5346C>A (p.Gly1782=) c.5334C>A (p.Gly1778=) c.5298C>A (p.Gly1766=) c.5286C>A (p.Gly1762=) c.5259C>A (p.Gly1753=) c.4092C>A (p.Gly1364=) c.4080C>A (p.Gly1360=) c.4044C>A (p.Gly1348=) c.4065C>A (p.Gly1355=) c.2985C>A (p.Gly995=) c.5331C>A (p.Gly1777=) c.5304C>A (p.Gly1768=) c.5283C>A (p.Gly1761=) c.5271C>A (p.Gly1757=) c.4605C>A (p.Gly1535=) c.4077C>A (p.Gly1359=) c.5292C>A (p.Gly1764=) | |
19 | g.5210683C>A | CA403501856 | PTPRS | n.667G>T n.492G>T c.5357G>T (p.Gly1786Val) c.4016G>T (p.Gly1339Val) c.5243G>T (p.Gly1748Val) c.4028G>T (p.Gly1343Val) n.4298G>T c.5318G>T (p.Gly1773Val) c.5231G>T (p.Gly1744Val) c.4004G>T (p.Gly1335Val) c.5345G>T (p.Gly1782Val) c.5333G>T (p.Gly1778Val) c.5297G>T (p.Gly1766Val) c.5285G>T (p.Gly1762Val) c.5258G>T (p.Gly1753Val) c.4091G>T (p.Gly1364Val) c.4079G>T (p.Gly1360Val) c.4043G>T (p.Gly1348Val) c.4064G>T (p.Gly1355Val) c.2984G>T (p.Gly995Val) c.5330G>T (p.Gly1777Val) c.5303G>T (p.Gly1768Val) c.5282G>T (p.Gly1761Val) c.5270G>T (p.Gly1757Val) c.4604G>T (p.Gly1535Val) c.4076G>T (p.Gly1359Val) c.5291G>T (p.Gly1764Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.5210683C= | CA2319812190 | PTPRS | n.667G= n.492G= c.5357G= (p.Gly1786=) c.4016G= (p.Gly1339=) c.5243G= (p.Gly1748=) c.4028G= (p.Gly1343=) n.4298G= c.5318G= (p.Gly1773=) c.5231G= (p.Gly1744=) c.4004G= (p.Gly1335=) c.5345G= (p.Gly1782=) c.5333G= (p.Gly1778=) c.5297G= (p.Gly1766=) c.5285G= (p.Gly1762=) c.5258G= (p.Gly1753=) c.4091G= (p.Gly1364=) c.4079G= (p.Gly1360=) c.4043G= (p.Gly1348=) c.4064G= (p.Gly1355=) c.2984G= (p.Gly995=) c.5330G= (p.Gly1777=) c.5303G= (p.Gly1768=) c.5282G= (p.Gly1761=) c.5270G= (p.Gly1757=) c.4604G= (p.Gly1535=) c.4076G= (p.Gly1359=) c.5291G= (p.Gly1764=) | |
19 | g.5210683C>G | CA403501858 | PTPRS | n.667G>C n.492G>C c.5357G>C (p.Gly1786Ala) c.4016G>C (p.Gly1339Ala) c.5243G>C (p.Gly1748Ala) c.4028G>C (p.Gly1343Ala) n.4298G>C c.5318G>C (p.Gly1773Ala) c.5231G>C (p.Gly1744Ala) c.4004G>C (p.Gly1335Ala) c.5345G>C (p.Gly1782Ala) c.5333G>C (p.Gly1778Ala) c.5297G>C (p.Gly1766Ala) c.5285G>C (p.Gly1762Ala) c.5258G>C (p.Gly1753Ala) c.4091G>C (p.Gly1364Ala) c.4079G>C (p.Gly1360Ala) c.4043G>C (p.Gly1348Ala) c.4064G>C (p.Gly1355Ala) c.2984G>C (p.Gly995Ala) c.5330G>C (p.Gly1777Ala) c.5303G>C (p.Gly1768Ala) c.5282G>C (p.Gly1761Ala) c.5270G>C (p.Gly1757Ala) c.4604G>C (p.Gly1535Ala) c.4076G>C (p.Gly1359Ala) c.5291G>C (p.Gly1764Ala) | |
19 | g.5210683C>T | CA9108763 | PTPRS | n.667G>A n.492G>A c.5357G>A (p.Gly1786Asp) c.4016G>A (p.Gly1339Asp) c.5243G>A (p.Gly1748Asp) c.4028G>A (p.Gly1343Asp) n.4298G>A c.5318G>A (p.Gly1773Asp) c.5231G>A (p.Gly1744Asp) c.4004G>A (p.Gly1335Asp) c.5345G>A (p.Gly1782Asp) c.5333G>A (p.Gly1778Asp) c.5297G>A (p.Gly1766Asp) c.5285G>A (p.Gly1762Asp) c.5258G>A (p.Gly1753Asp) c.4091G>A (p.Gly1364Asp) c.4079G>A (p.Gly1360Asp) c.4043G>A (p.Gly1348Asp) c.4064G>A (p.Gly1355Asp) c.2984G>A (p.Gly995Asp) c.5330G>A (p.Gly1777Asp) c.5303G>A (p.Gly1768Asp) c.5282G>A (p.Gly1761Asp) c.5270G>A (p.Gly1757Asp) c.4604G>A (p.Gly1535Asp) c.4076G>A (p.Gly1359Asp) c.5291G>A (p.Gly1764Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.5210684C>A | CA403501861 | PTPRS | n.666G>T n.491G>T c.5356G>T (p.Gly1786Cys) c.4015G>T (p.Gly1339Cys) c.5242G>T (p.Gly1748Cys) c.4027G>T (p.Gly1343Cys) n.4297G>T c.5317G>T (p.Gly1773Cys) c.5230G>T (p.Gly1744Cys) c.4003G>T (p.Gly1335Cys) c.5344G>T (p.Gly1782Cys) c.5332G>T (p.Gly1778Cys) c.5296G>T (p.Gly1766Cys) c.5284G>T (p.Gly1762Cys) c.5257G>T (p.Gly1753Cys) c.4090G>T (p.Gly1364Cys) c.4078G>T (p.Gly1360Cys) c.4042G>T (p.Gly1348Cys) c.4063G>T (p.Gly1355Cys) c.2983G>T (p.Gly995Cys) c.5329G>T (p.Gly1777Cys) c.5302G>T (p.Gly1768Cys) c.5281G>T (p.Gly1761Cys) c.5269G>T (p.Gly1757Cys) c.4603G>T (p.Gly1535Cys) c.4075G>T (p.Gly1359Cys) c.5290G>T (p.Gly1764Cys) | |
19 | g.5210684C= | CA2319812191 | PTPRS | n.666G= n.491G= c.5356G= (p.Gly1786=) c.4015G= (p.Gly1339=) c.5242G= (p.Gly1748=) c.4027G= (p.Gly1343=) n.4297G= c.5317G= (p.Gly1773=) c.5230G= (p.Gly1744=) c.4003G= (p.Gly1335=) c.5344G= (p.Gly1782=) c.5332G= (p.Gly1778=) c.5296G= (p.Gly1766=) c.5284G= (p.Gly1762=) c.5257G= (p.Gly1753=) c.4090G= (p.Gly1364=) c.4078G= (p.Gly1360=) c.4042G= (p.Gly1348=) c.4063G= (p.Gly1355=) c.2983G= (p.Gly995=) c.5329G= (p.Gly1777=) c.5302G= (p.Gly1768=) c.5281G= (p.Gly1761=) c.5269G= (p.Gly1757=) c.4603G= (p.Gly1535=) c.4075G= (p.Gly1359=) c.5290G= (p.Gly1764=) | |
19 | g.5210684C>G | CA403501863 | PTPRS | n.666G>C n.491G>C c.5356G>C (p.Gly1786Arg) c.4015G>C (p.Gly1339Arg) c.5242G>C (p.Gly1748Arg) c.4027G>C (p.Gly1343Arg) n.4297G>C c.5317G>C (p.Gly1773Arg) c.5230G>C (p.Gly1744Arg) c.4003G>C (p.Gly1335Arg) c.5344G>C (p.Gly1782Arg) c.5332G>C (p.Gly1778Arg) c.5296G>C (p.Gly1766Arg) c.5284G>C (p.Gly1762Arg) c.5257G>C (p.Gly1753Arg) c.4090G>C (p.Gly1364Arg) c.4078G>C (p.Gly1360Arg) c.4042G>C (p.Gly1348Arg) c.4063G>C (p.Gly1355Arg) c.2983G>C (p.Gly995Arg) c.5329G>C (p.Gly1777Arg) c.5302G>C (p.Gly1768Arg) c.5281G>C (p.Gly1761Arg) c.5269G>C (p.Gly1757Arg) c.4603G>C (p.Gly1535Arg) c.4075G>C (p.Gly1359Arg) c.5290G>C (p.Gly1764Arg) | |
19 | g.5210684C>T | CA403501864 | PTPRS | n.666G>A n.491G>A c.5356G>A (p.Gly1786Ser) c.4015G>A (p.Gly1339Ser) c.5242G>A (p.Gly1748Ser) c.4027G>A (p.Gly1343Ser) n.4297G>A c.5317G>A (p.Gly1773Ser) c.5230G>A (p.Gly1744Ser) c.4003G>A (p.Gly1335Ser) c.5344G>A (p.Gly1782Ser) c.5332G>A (p.Gly1778Ser) c.5296G>A (p.Gly1766Ser) c.5284G>A (p.Gly1762Ser) c.5257G>A (p.Gly1753Ser) c.4090G>A (p.Gly1364Ser) c.4078G>A (p.Gly1360Ser) c.4042G>A (p.Gly1348Ser) c.4063G>A (p.Gly1355Ser) c.2983G>A (p.Gly995Ser) c.5329G>A (p.Gly1777Ser) c.5302G>A (p.Gly1768Ser) c.5281G>A (p.Gly1761Ser) c.5269G>A (p.Gly1757Ser) c.4603G>A (p.Gly1535Ser) c.4075G>A (p.Gly1359Ser) c.5290G>A (p.Gly1764Ser) | dbSNP |
19 | g.5210685C>A | CA403501865 | PTPRS | n.665G>T n.490G>T c.5355G>T (p.Met1785Ile) c.4014G>T (p.Met1338Ile) c.5241G>T (p.Met1747Ile) c.4026G>T (p.Met1342Ile) n.4296G>T c.5316G>T (p.Met1772Ile) c.5229G>T (p.Met1743Ile) c.4002G>T (p.Met1334Ile) c.5343G>T (p.Met1781Ile) c.5331G>T (p.Met1777Ile) c.5295G>T (p.Met1765Ile) c.5283G>T (p.Met1761Ile) c.5256G>T (p.Met1752Ile) c.4089G>T (p.Met1363Ile) c.4077G>T (p.Met1359Ile) c.4041G>T (p.Met1347Ile) c.4062G>T (p.Met1354Ile) c.2982G>T (p.Met994Ile) c.5328G>T (p.Met1776Ile) c.5301G>T (p.Met1767Ile) c.5280G>T (p.Met1760Ile) c.5268G>T (p.Met1756Ile) c.4602G>T (p.Met1534Ile) c.4074G>T (p.Met1358Ile) c.5289G>T (p.Met1763Ile) | |
19 | g.5210685C>G | CA403501866 | PTPRS | n.665G>C n.490G>C c.5355G>C (p.Met1785Ile) c.4014G>C (p.Met1338Ile) c.5241G>C (p.Met1747Ile) c.4026G>C (p.Met1342Ile) n.4296G>C c.5316G>C (p.Met1772Ile) c.5229G>C (p.Met1743Ile) c.4002G>C (p.Met1334Ile) c.5343G>C (p.Met1781Ile) c.5331G>C (p.Met1777Ile) c.5295G>C (p.Met1765Ile) c.5283G>C (p.Met1761Ile) c.5256G>C (p.Met1752Ile) c.4089G>C (p.Met1363Ile) c.4077G>C (p.Met1359Ile) c.4041G>C (p.Met1347Ile) c.4062G>C (p.Met1354Ile) c.2982G>C (p.Met994Ile) c.5328G>C (p.Met1776Ile) c.5301G>C (p.Met1767Ile) c.5280G>C (p.Met1760Ile) c.5268G>C (p.Met1756Ile) c.4602G>C (p.Met1534Ile) c.4074G>C (p.Met1358Ile) c.5289G>C (p.Met1763Ile) | |
19 | g.5210685C>T | CA403501868 | PTPRS | n.665G>A n.490G>A c.5355G>A (p.Met1785Ile) c.4014G>A (p.Met1338Ile) c.5241G>A (p.Met1747Ile) c.4026G>A (p.Met1342Ile) n.4296G>A c.5316G>A (p.Met1772Ile) c.5229G>A (p.Met1743Ile) c.4002G>A (p.Met1334Ile) c.5343G>A (p.Met1781Ile) c.5331G>A (p.Met1777Ile) c.5295G>A (p.Met1765Ile) c.5283G>A (p.Met1761Ile) c.5256G>A (p.Met1752Ile) c.4089G>A (p.Met1363Ile) c.4077G>A (p.Met1359Ile) c.4041G>A (p.Met1347Ile) c.4062G>A (p.Met1354Ile) c.2982G>A (p.Met994Ile) c.5328G>A (p.Met1776Ile) c.5301G>A (p.Met1767Ile) c.5280G>A (p.Met1760Ile) c.5268G>A (p.Met1756Ile) c.4602G>A (p.Met1534Ile) c.4074G>A (p.Met1358Ile) c.5289G>A (p.Met1763Ile) | |
19 | g.5210686A= | CA2319812192 | PTPRS | n.664T= n.489T= c.5354T= (p.Met1785=) c.4013T= (p.Met1338=) c.5240T= (p.Met1747=) c.4025T= (p.Met1342=) n.4295T= c.5315T= (p.Met1772=) c.5228T= (p.Met1743=) c.4001T= (p.Met1334=) c.5342T= (p.Met1781=) c.5330T= (p.Met1777=) c.5294T= (p.Met1765=) c.5282T= (p.Met1761=) c.5255T= (p.Met1752=) c.4088T= (p.Met1363=) c.4076T= (p.Met1359=) c.4040T= (p.Met1347=) c.4061T= (p.Met1354=) c.2981T= (p.Met994=) c.5327T= (p.Met1776=) c.5300T= (p.Met1767=) c.5279T= (p.Met1760=) c.5267T= (p.Met1756=) c.4601T= (p.Met1534=) c.4073T= (p.Met1358=) c.5288T= (p.Met1763=) | |
19 | g.5210686A>C | CA304603403 | PTPRS | n.664T>G n.489T>G c.5354T>G (p.Met1785Arg) c.4013T>G (p.Met1338Arg) c.5240T>G (p.Met1747Arg) c.4025T>G (p.Met1342Arg) n.4295T>G c.5315T>G (p.Met1772Arg) c.5228T>G (p.Met1743Arg) c.4001T>G (p.Met1334Arg) c.5342T>G (p.Met1781Arg) c.5330T>G (p.Met1777Arg) c.5294T>G (p.Met1765Arg) c.5282T>G (p.Met1761Arg) c.5255T>G (p.Met1752Arg) c.4088T>G (p.Met1363Arg) c.4076T>G (p.Met1359Arg) c.4040T>G (p.Met1347Arg) c.4061T>G (p.Met1354Arg) c.2981T>G (p.Met994Arg) c.5327T>G (p.Met1776Arg) c.5300T>G (p.Met1767Arg) c.5279T>G (p.Met1760Arg) c.5267T>G (p.Met1756Arg) c.4601T>G (p.Met1534Arg) c.4073T>G (p.Met1358Arg) c.5288T>G (p.Met1763Arg) | dbSNP |
19 | g.5210686A>G | CA403501871 | PTPRS | n.664T>C n.489T>C c.5354T>C (p.Met1785Thr) c.4013T>C (p.Met1338Thr) c.5240T>C (p.Met1747Thr) c.4025T>C (p.Met1342Thr) n.4295T>C c.5315T>C (p.Met1772Thr) c.5228T>C (p.Met1743Thr) c.4001T>C (p.Met1334Thr) c.5342T>C (p.Met1781Thr) c.5330T>C (p.Met1777Thr) c.5294T>C (p.Met1765Thr) c.5282T>C (p.Met1761Thr) c.5255T>C (p.Met1752Thr) c.4088T>C (p.Met1363Thr) c.4076T>C (p.Met1359Thr) c.4040T>C (p.Met1347Thr) c.4061T>C (p.Met1354Thr) c.2981T>C (p.Met994Thr) c.5327T>C (p.Met1776Thr) c.5300T>C (p.Met1767Thr) c.5279T>C (p.Met1760Thr) c.5267T>C (p.Met1756Thr) c.4601T>C (p.Met1534Thr) c.4073T>C (p.Met1358Thr) c.5288T>C (p.Met1763Thr) | |
19 | g.5210686A>T | CA403501873 | PTPRS | n.664T>A n.489T>A c.5354T>A (p.Met1785Lys) c.4013T>A (p.Met1338Lys) c.5240T>A (p.Met1747Lys) c.4025T>A (p.Met1342Lys) n.4295T>A c.5315T>A (p.Met1772Lys) c.5228T>A (p.Met1743Lys) c.4001T>A (p.Met1334Lys) c.5342T>A (p.Met1781Lys) c.5330T>A (p.Met1777Lys) c.5294T>A (p.Met1765Lys) c.5282T>A (p.Met1761Lys) c.5255T>A (p.Met1752Lys) c.4088T>A (p.Met1363Lys) c.4076T>A (p.Met1359Lys) c.4040T>A (p.Met1347Lys) c.4061T>A (p.Met1354Lys) c.2981T>A (p.Met994Lys) c.5327T>A (p.Met1776Lys) c.5300T>A (p.Met1767Lys) c.5279T>A (p.Met1760Lys) c.5267T>A (p.Met1756Lys) c.4601T>A (p.Met1534Lys) c.4073T>A (p.Met1358Lys) c.5288T>A (p.Met1763Lys) | |
19 | g.5210687T>A | CA403501879 | PTPRS | n.663A>T n.488A>T c.5353A>T (p.Met1785Leu) c.4012A>T (p.Met1338Leu) c.5239A>T (p.Met1747Leu) c.4024A>T (p.Met1342Leu) n.4294A>T c.5314A>T (p.Met1772Leu) c.5227A>T (p.Met1743Leu) c.4000A>T (p.Met1334Leu) c.5341A>T (p.Met1781Leu) c.5329A>T (p.Met1777Leu) c.5293A>T (p.Met1765Leu) c.5281A>T (p.Met1761Leu) c.5254A>T (p.Met1752Leu) c.4087A>T (p.Met1363Leu) c.4075A>T (p.Met1359Leu) c.4039A>T (p.Met1347Leu) c.4060A>T (p.Met1354Leu) c.2980A>T (p.Met994Leu) c.5326A>T (p.Met1776Leu) c.5299A>T (p.Met1767Leu) c.5278A>T (p.Met1760Leu) c.5266A>T (p.Met1756Leu) c.4600A>T (p.Met1534Leu) c.4072A>T (p.Met1358Leu) c.5287A>T (p.Met1763Leu) | |
19 | g.5210687T>C | CA403501877 | PTPRS | n.663A>G n.488A>G c.5353A>G (p.Met1785Val) c.4012A>G (p.Met1338Val) c.5239A>G (p.Met1747Val) c.4024A>G (p.Met1342Val) n.4294A>G c.5314A>G (p.Met1772Val) c.5227A>G (p.Met1743Val) c.4000A>G (p.Met1334Val) c.5341A>G (p.Met1781Val) c.5329A>G (p.Met1777Val) c.5293A>G (p.Met1765Val) c.5281A>G (p.Met1761Val) c.5254A>G (p.Met1752Val) c.4087A>G (p.Met1363Val) c.4075A>G (p.Met1359Val) c.4039A>G (p.Met1347Val) c.4060A>G (p.Met1354Val) c.2980A>G (p.Met994Val) c.5326A>G (p.Met1776Val) c.5299A>G (p.Met1767Val) c.5278A>G (p.Met1760Val) c.5266A>G (p.Met1756Val) c.4600A>G (p.Met1534Val) c.4072A>G (p.Met1358Val) c.5287A>G (p.Met1763Val) | |
19 | g.5210687T>G | CA403501876 | PTPRS | n.663A>C n.488A>C c.5353A>C (p.Met1785Leu) c.4012A>C (p.Met1338Leu) c.5239A>C (p.Met1747Leu) c.4024A>C (p.Met1342Leu) n.4294A>C c.5314A>C (p.Met1772Leu) c.5227A>C (p.Met1743Leu) c.4000A>C (p.Met1334Leu) c.5341A>C (p.Met1781Leu) c.5329A>C (p.Met1777Leu) c.5293A>C (p.Met1765Leu) c.5281A>C (p.Met1761Leu) c.5254A>C (p.Met1752Leu) c.4087A>C (p.Met1363Leu) c.4075A>C (p.Met1359Leu) c.4039A>C (p.Met1347Leu) c.4060A>C (p.Met1354Leu) c.2980A>C (p.Met994Leu) c.5326A>C (p.Met1776Leu) c.5299A>C (p.Met1767Leu) c.5278A>C (p.Met1760Leu) c.5266A>C (p.Met1756Leu) c.4600A>C (p.Met1534Leu) c.4072A>C (p.Met1358Leu) c.5287A>C (p.Met1763Leu) | |
19 | g.5210688C>A | CA403501882 | PTPRS | n.662G>T n.487G>T c.5352G>T (p.Glu1784Asp) c.4011G>T (p.Glu1337Asp) c.5238G>T (p.Glu1746Asp) c.4023G>T (p.Glu1341Asp) n.4293G>T c.5313G>T (p.Glu1771Asp) c.5226G>T (p.Glu1742Asp) c.3999G>T (p.Glu1333Asp) c.5340G>T (p.Glu1780Asp) c.5328G>T (p.Glu1776Asp) c.5292G>T (p.Glu1764Asp) c.5280G>T (p.Glu1760Asp) c.5253G>T (p.Glu1751Asp) c.4086G>T (p.Glu1362Asp) c.4074G>T (p.Glu1358Asp) c.4038G>T (p.Glu1346Asp) c.4059G>T (p.Glu1353Asp) c.2979G>T (p.Glu993Asp) c.5325G>T (p.Glu1775Asp) c.5298G>T (p.Glu1766Asp) c.5277G>T (p.Glu1759Asp) c.5265G>T (p.Glu1755Asp) c.4599G>T (p.Glu1533Asp) c.4071G>T (p.Glu1357Asp) c.5286G>T (p.Glu1762Asp) | |
19 | g.5210688C>G | CA403501883 | PTPRS | n.662G>C n.487G>C c.5352G>C (p.Glu1784Asp) c.4011G>C (p.Glu1337Asp) c.5238G>C (p.Glu1746Asp) c.4023G>C (p.Glu1341Asp) n.4293G>C c.5313G>C (p.Glu1771Asp) c.5226G>C (p.Glu1742Asp) c.3999G>C (p.Glu1333Asp) c.5340G>C (p.Glu1780Asp) c.5328G>C (p.Glu1776Asp) c.5292G>C (p.Glu1764Asp) c.5280G>C (p.Glu1760Asp) c.5253G>C (p.Glu1751Asp) c.4086G>C (p.Glu1362Asp) c.4074G>C (p.Glu1358Asp) c.4038G>C (p.Glu1346Asp) c.4059G>C (p.Glu1353Asp) c.2979G>C (p.Glu993Asp) c.5325G>C (p.Glu1775Asp) c.5298G>C (p.Glu1766Asp) c.5277G>C (p.Glu1759Asp) c.5265G>C (p.Glu1755Asp) c.4599G>C (p.Glu1533Asp) c.4071G>C (p.Glu1357Asp) c.5286G>C (p.Glu1762Asp) | gnomAD v4 |
19 | g.5210688C>T | CA505177033 | PTPRS | n.662G>A n.487G>A c.5352G>A (p.Glu1784=) c.4011G>A (p.Glu1337=) c.5238G>A (p.Glu1746=) c.4023G>A (p.Glu1341=) n.4293G>A c.5313G>A (p.Glu1771=) c.5226G>A (p.Glu1742=) c.3999G>A (p.Glu1333=) c.5340G>A (p.Glu1780=) c.5328G>A (p.Glu1776=) c.5292G>A (p.Glu1764=) c.5280G>A (p.Glu1760=) c.5253G>A (p.Glu1751=) c.4086G>A (p.Glu1362=) c.4074G>A (p.Glu1358=) c.4038G>A (p.Glu1346=) c.4059G>A (p.Glu1353=) c.2979G>A (p.Glu993=) c.5325G>A (p.Glu1775=) c.5298G>A (p.Glu1766=) c.5277G>A (p.Glu1759=) c.5265G>A (p.Glu1755=) c.4599G>A (p.Glu1533=) c.4071G>A (p.Glu1357=) c.5286G>A (p.Glu1762=) | gnomAD v4 |
19 | g.5210689T>A | CA403501886 | PTPRS | n.661A>T n.486A>T c.5351A>T (p.Glu1784Val) c.4010A>T (p.Glu1337Val) c.5237A>T (p.Glu1746Val) c.4022A>T (p.Glu1341Val) n.4292A>T c.5312A>T (p.Glu1771Val) c.5225A>T (p.Glu1742Val) c.3998A>T (p.Glu1333Val) c.5339A>T (p.Glu1780Val) c.5327A>T (p.Glu1776Val) c.5291A>T (p.Glu1764Val) c.5279A>T (p.Glu1760Val) c.5252A>T (p.Glu1751Val) c.4085A>T (p.Glu1362Val) c.4073A>T (p.Glu1358Val) c.4037A>T (p.Glu1346Val) c.4058A>T (p.Glu1353Val) c.2978A>T (p.Glu993Val) c.5324A>T (p.Glu1775Val) c.5297A>T (p.Glu1766Val) c.5276A>T (p.Glu1759Val) c.5264A>T (p.Glu1755Val) c.4598A>T (p.Glu1533Val) c.4070A>T (p.Glu1357Val) c.5285A>T (p.Glu1762Val) | |
19 | g.5210689T>C | CA403501887 | PTPRS | n.661A>G n.486A>G c.5351A>G (p.Glu1784Gly) c.4010A>G (p.Glu1337Gly) c.5237A>G (p.Glu1746Gly) c.4022A>G (p.Glu1341Gly) n.4292A>G c.5312A>G (p.Glu1771Gly) c.5225A>G (p.Glu1742Gly) c.3998A>G (p.Glu1333Gly) c.5339A>G (p.Glu1780Gly) c.5327A>G (p.Glu1776Gly) c.5291A>G (p.Glu1764Gly) c.5279A>G (p.Glu1760Gly) c.5252A>G (p.Glu1751Gly) c.4085A>G (p.Glu1362Gly) c.4073A>G (p.Glu1358Gly) c.4037A>G (p.Glu1346Gly) c.4058A>G (p.Glu1353Gly) c.2978A>G (p.Glu993Gly) c.5324A>G (p.Glu1775Gly) c.5297A>G (p.Glu1766Gly) c.5276A>G (p.Glu1759Gly) c.5264A>G (p.Glu1755Gly) c.4598A>G (p.Glu1533Gly) c.4070A>G (p.Glu1357Gly) c.5285A>G (p.Glu1762Gly) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.5210689T>G | CA403501888 | PTPRS | n.661A>C n.486A>C c.5351A>C (p.Glu1784Ala) c.4010A>C (p.Glu1337Ala) c.5237A>C (p.Glu1746Ala) c.4022A>C (p.Glu1341Ala) n.4292A>C c.5312A>C (p.Glu1771Ala) c.5225A>C (p.Glu1742Ala) c.3998A>C (p.Glu1333Ala) c.5339A>C (p.Glu1780Ala) c.5327A>C (p.Glu1776Ala) c.5291A>C (p.Glu1764Ala) c.5279A>C (p.Glu1760Ala) c.5252A>C (p.Glu1751Ala) c.4085A>C (p.Glu1362Ala) c.4073A>C (p.Glu1358Ala) c.4037A>C (p.Glu1346Ala) c.4058A>C (p.Glu1353Ala) c.2978A>C (p.Glu993Ala) c.5324A>C (p.Glu1775Ala) c.5297A>C (p.Glu1766Ala) c.5276A>C (p.Glu1759Ala) c.5264A>C (p.Glu1755Ala) c.4598A>C (p.Glu1533Ala) c.4070A>C (p.Glu1357Ala) c.5285A>C (p.Glu1762Ala) | |
19 | g.5210689T= | CA2319812193 | PTPRS | n.661A= n.486A= c.5351A= (p.Glu1784=) c.4010A= (p.Glu1337=) c.5237A= (p.Glu1746=) c.4022A= (p.Glu1341=) n.4292A= c.5312A= (p.Glu1771=) c.5225A= (p.Glu1742=) c.3998A= (p.Glu1333=) c.5339A= (p.Glu1780=) c.5327A= (p.Glu1776=) c.5291A= (p.Glu1764=) c.5279A= (p.Glu1760=) c.5252A= (p.Glu1751=) c.4085A= (p.Glu1362=) c.4073A= (p.Glu1358=) c.4037A= (p.Glu1346=) c.4058A= (p.Glu1353=) c.2978A= (p.Glu993=) c.5324A= (p.Glu1775=) c.5297A= (p.Glu1766=) c.5276A= (p.Glu1759=) c.5264A= (p.Glu1755=) c.4598A= (p.Glu1533=) c.4070A= (p.Glu1357=) c.5285A= (p.Glu1762=) | |
19 | g.5210690C>A | CA403501890 | PTPRS | n.660G>T n.485G>T c.5350G>T (p.Glu1784Ter) c.4009G>T (p.Glu1337Ter) c.5236G>T (p.Glu1746Ter) c.4021G>T (p.Glu1341Ter) n.4291G>T c.5311G>T (p.Glu1771Ter) c.5224G>T (p.Glu1742Ter) c.3997G>T (p.Glu1333Ter) c.5338G>T (p.Glu1780Ter) c.5326G>T (p.Glu1776Ter) c.5290G>T (p.Glu1764Ter) c.5278G>T (p.Glu1760Ter) c.5251G>T (p.Glu1751Ter) c.4084G>T (p.Glu1362Ter) c.4072G>T (p.Glu1358Ter) c.4036G>T (p.Glu1346Ter) c.4057G>T (p.Glu1353Ter) c.2977G>T (p.Glu993Ter) c.5323G>T (p.Glu1775Ter) c.5296G>T (p.Glu1766Ter) c.5275G>T (p.Glu1759Ter) c.5263G>T (p.Glu1755Ter) c.4597G>T (p.Glu1533Ter) c.4069G>T (p.Glu1357Ter) c.5284G>T (p.Glu1762Ter) | |
19 | g.5210690C>G | CA403501891 | PTPRS | n.660G>C n.485G>C c.5350G>C (p.Glu1784Gln) c.4009G>C (p.Glu1337Gln) c.5236G>C (p.Glu1746Gln) c.4021G>C (p.Glu1341Gln) n.4291G>C c.5311G>C (p.Glu1771Gln) c.5224G>C (p.Glu1742Gln) c.3997G>C (p.Glu1333Gln) c.5338G>C (p.Glu1780Gln) c.5326G>C (p.Glu1776Gln) c.5290G>C (p.Glu1764Gln) c.5278G>C (p.Glu1760Gln) c.5251G>C (p.Glu1751Gln) c.4084G>C (p.Glu1362Gln) c.4072G>C (p.Glu1358Gln) c.4036G>C (p.Glu1346Gln) c.4057G>C (p.Glu1353Gln) c.2977G>C (p.Glu993Gln) c.5323G>C (p.Glu1775Gln) c.5296G>C (p.Glu1766Gln) c.5275G>C (p.Glu1759Gln) c.5263G>C (p.Glu1755Gln) c.4597G>C (p.Glu1533Gln) c.4069G>C (p.Glu1357Gln) c.5284G>C (p.Glu1762Gln) | |
19 | g.5210690C>T | CA403501893 | PTPRS | n.660G>A n.485G>A c.5350G>A (p.Glu1784Lys) c.4009G>A (p.Glu1337Lys) c.5236G>A (p.Glu1746Lys) c.4021G>A (p.Glu1341Lys) n.4291G>A c.5311G>A (p.Glu1771Lys) c.5224G>A (p.Glu1742Lys) c.3997G>A (p.Glu1333Lys) c.5338G>A (p.Glu1780Lys) c.5326G>A (p.Glu1776Lys) c.5290G>A (p.Glu1764Lys) c.5278G>A (p.Glu1760Lys) c.5251G>A (p.Glu1751Lys) c.4084G>A (p.Glu1362Lys) c.4072G>A (p.Glu1358Lys) c.4036G>A (p.Glu1346Lys) c.4057G>A (p.Glu1353Lys) c.2977G>A (p.Glu993Lys) c.5323G>A (p.Glu1775Lys) c.5296G>A (p.Glu1766Lys) c.5275G>A (p.Glu1759Lys) c.5263G>A (p.Glu1755Lys) c.4597G>A (p.Glu1533Lys) c.4069G>A (p.Glu1357Lys) c.5284G>A (p.Glu1762Lys) | |
19 | g.5210691C>A | CA505177034 | PTPRS | n.659G>T n.484G>T c.5349G>T (p.Arg1783=) c.4008G>T (p.Arg1336=) c.5235G>T (p.Arg1745=) c.4020G>T (p.Arg1340=) n.4290G>T c.5310G>T (p.Arg1770=) c.5223G>T (p.Arg1741=) c.3996G>T (p.Arg1332=) c.5337G>T (p.Arg1779=) c.5325G>T (p.Arg1775=) c.5289G>T (p.Arg1763=) c.5277G>T (p.Arg1759=) c.5250G>T (p.Arg1750=) c.4083G>T (p.Arg1361=) c.4071G>T (p.Arg1357=) c.4035G>T (p.Arg1345=) c.4056G>T (p.Arg1352=) c.2976G>T (p.Arg992=) c.5322G>T (p.Arg1774=) c.5295G>T (p.Arg1765=) c.5274G>T (p.Arg1758=) c.5262G>T (p.Arg1754=) c.4596G>T (p.Arg1532=) c.4068G>T (p.Arg1356=) c.5283G>T (p.Arg1761=) | |
19 | g.5210691C>G | CA505177035 | PTPRS | n.659G>C n.484G>C c.5349G>C (p.Arg1783=) c.4008G>C (p.Arg1336=) c.5235G>C (p.Arg1745=) c.4020G>C (p.Arg1340=) n.4290G>C c.5310G>C (p.Arg1770=) c.5223G>C (p.Arg1741=) c.3996G>C (p.Arg1332=) c.5337G>C (p.Arg1779=) c.5325G>C (p.Arg1775=) c.5289G>C (p.Arg1763=) c.5277G>C (p.Arg1759=) c.5250G>C (p.Arg1750=) c.4083G>C (p.Arg1361=) c.4071G>C (p.Arg1357=) c.4035G>C (p.Arg1345=) c.4056G>C (p.Arg1352=) c.2976G>C (p.Arg992=) c.5322G>C (p.Arg1774=) c.5295G>C (p.Arg1765=) c.5274G>C (p.Arg1758=) c.5262G>C (p.Arg1754=) c.4596G>C (p.Arg1532=) c.4068G>C (p.Arg1356=) c.5283G>C (p.Arg1761=) | |
19 | g.5210691C>T | CA505177036 | PTPRS | n.659G>A n.484G>A c.5349G>A (p.Arg1783=) c.4008G>A (p.Arg1336=) c.5235G>A (p.Arg1745=) c.4020G>A (p.Arg1340=) n.4290G>A c.5310G>A (p.Arg1770=) c.5223G>A (p.Arg1741=) c.3996G>A (p.Arg1332=) c.5337G>A (p.Arg1779=) c.5325G>A (p.Arg1775=) c.5289G>A (p.Arg1763=) c.5277G>A (p.Arg1759=) c.5250G>A (p.Arg1750=) c.4083G>A (p.Arg1361=) c.4071G>A (p.Arg1357=) c.4035G>A (p.Arg1345=) c.4056G>A (p.Arg1352=) c.2976G>A (p.Arg992=) c.5322G>A (p.Arg1774=) c.5295G>A (p.Arg1765=) c.5274G>A (p.Arg1758=) c.5262G>A (p.Arg1754=) c.4596G>A (p.Arg1532=) c.4068G>A (p.Arg1356=) c.5283G>A (p.Arg1761=) | |
19 | g.5210692C>A | CA403501894 | PTPRS | n.658G>T n.483G>T c.5348G>T (p.Arg1783Leu) c.4007G>T (p.Arg1336Leu) c.5234G>T (p.Arg1745Leu) c.4019G>T (p.Arg1340Leu) n.4289G>T c.5309G>T (p.Arg1770Leu) c.5222G>T (p.Arg1741Leu) c.3995G>T (p.Arg1332Leu) c.5336G>T (p.Arg1779Leu) c.5324G>T (p.Arg1775Leu) c.5288G>T (p.Arg1763Leu) c.5276G>T (p.Arg1759Leu) c.5249G>T (p.Arg1750Leu) c.4082G>T (p.Arg1361Leu) c.4070G>T (p.Arg1357Leu) c.4034G>T (p.Arg1345Leu) c.4055G>T (p.Arg1352Leu) c.2975G>T (p.Arg992Leu) c.5321G>T (p.Arg1774Leu) c.5294G>T (p.Arg1765Leu) c.5273G>T (p.Arg1758Leu) c.5261G>T (p.Arg1754Leu) c.4595G>T (p.Arg1532Leu) c.4067G>T (p.Arg1356Leu) c.5282G>T (p.Arg1761Leu) | |
19 | g.5210692C= | CA2319812194 | PTPRS | n.658G= n.483G= c.5348G= (p.Arg1783=) c.4007G= (p.Arg1336=) c.5234G= (p.Arg1745=) c.4019G= (p.Arg1340=) n.4289G= c.5309G= (p.Arg1770=) c.5222G= (p.Arg1741=) c.3995G= (p.Arg1332=) c.5336G= (p.Arg1779=) c.5324G= (p.Arg1775=) c.5288G= (p.Arg1763=) c.5276G= (p.Arg1759=) c.5249G= (p.Arg1750=) c.4082G= (p.Arg1361=) c.4070G= (p.Arg1357=) c.4034G= (p.Arg1345=) c.4055G= (p.Arg1352=) c.2975G= (p.Arg992=) c.5321G= (p.Arg1774=) c.5294G= (p.Arg1765=) c.5273G= (p.Arg1758=) c.5261G= (p.Arg1754=) c.4595G= (p.Arg1532=) c.4067G= (p.Arg1356=) c.5282G= (p.Arg1761=) | |
19 | g.5210692C>G | CA403501895 | PTPRS | n.658G>C n.483G>C c.5348G>C (p.Arg1783Pro) c.4007G>C (p.Arg1336Pro) c.5234G>C (p.Arg1745Pro) c.4019G>C (p.Arg1340Pro) n.4289G>C c.5309G>C (p.Arg1770Pro) c.5222G>C (p.Arg1741Pro) c.3995G>C (p.Arg1332Pro) c.5336G>C (p.Arg1779Pro) c.5324G>C (p.Arg1775Pro) c.5288G>C (p.Arg1763Pro) c.5276G>C (p.Arg1759Pro) c.5249G>C (p.Arg1750Pro) c.4082G>C (p.Arg1361Pro) c.4070G>C (p.Arg1357Pro) c.4034G>C (p.Arg1345Pro) c.4055G>C (p.Arg1352Pro) c.2975G>C (p.Arg992Pro) c.5321G>C (p.Arg1774Pro) c.5294G>C (p.Arg1765Pro) c.5273G>C (p.Arg1758Pro) c.5261G>C (p.Arg1754Pro) c.4595G>C (p.Arg1532Pro) c.4067G>C (p.Arg1356Pro) c.5282G>C (p.Arg1761Pro) | |
19 | g.5210692C>T | CA9108764 | PTPRS | n.658G>A n.483G>A c.5348G>A (p.Arg1783Gln) c.4007G>A (p.Arg1336Gln) c.5234G>A (p.Arg1745Gln) c.4019G>A (p.Arg1340Gln) n.4289G>A c.5309G>A (p.Arg1770Gln) c.5222G>A (p.Arg1741Gln) c.3995G>A (p.Arg1332Gln) c.5336G>A (p.Arg1779Gln) c.5324G>A (p.Arg1775Gln) c.5288G>A (p.Arg1763Gln) c.5276G>A (p.Arg1759Gln) c.5249G>A (p.Arg1750Gln) c.4082G>A (p.Arg1361Gln) c.4070G>A (p.Arg1357Gln) c.4034G>A (p.Arg1345Gln) c.4055G>A (p.Arg1352Gln) c.2975G>A (p.Arg992Gln) c.5321G>A (p.Arg1774Gln) c.5294G>A (p.Arg1765Gln) c.5273G>A (p.Arg1758Gln) c.5261G>A (p.Arg1754Gln) c.4595G>A (p.Arg1532Gln) c.4067G>A (p.Arg1356Gln) c.5282G>A (p.Arg1761Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.5210693G>A | CA9108765 | PTPRS | n.657C>T n.482C>T c.5347C>T (p.Arg1783Trp) c.4006C>T (p.Arg1336Trp) c.5233C>T (p.Arg1745Trp) c.4018C>T (p.Arg1340Trp) n.4288C>T c.5308C>T (p.Arg1770Trp) c.5221C>T (p.Arg1741Trp) c.3994C>T (p.Arg1332Trp) c.5335C>T (p.Arg1779Trp) c.5323C>T (p.Arg1775Trp) c.5287C>T (p.Arg1763Trp) c.5275C>T (p.Arg1759Trp) c.5248C>T (p.Arg1750Trp) c.4081C>T (p.Arg1361Trp) c.4069C>T (p.Arg1357Trp) c.4033C>T (p.Arg1345Trp) c.4054C>T (p.Arg1352Trp) c.2974C>T (p.Arg992Trp) c.5320C>T (p.Arg1774Trp) c.5293C>T (p.Arg1765Trp) c.5272C>T (p.Arg1758Trp) c.5260C>T (p.Arg1754Trp) c.4594C>T (p.Arg1532Trp) c.4066C>T (p.Arg1356Trp) c.5281C>T (p.Arg1761Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.5210693G>C | CA403501898 | PTPRS | n.657C>G n.482C>G c.5347C>G (p.Arg1783Gly) c.4006C>G (p.Arg1336Gly) c.5233C>G (p.Arg1745Gly) c.4018C>G (p.Arg1340Gly) n.4288C>G c.5308C>G (p.Arg1770Gly) c.5221C>G (p.Arg1741Gly) c.3994C>G (p.Arg1332Gly) c.5335C>G (p.Arg1779Gly) c.5323C>G (p.Arg1775Gly) c.5287C>G (p.Arg1763Gly) c.5275C>G (p.Arg1759Gly) c.5248C>G (p.Arg1750Gly) c.4081C>G (p.Arg1361Gly) c.4069C>G (p.Arg1357Gly) c.4033C>G (p.Arg1345Gly) c.4054C>G (p.Arg1352Gly) c.2974C>G (p.Arg992Gly) c.5320C>G (p.Arg1774Gly) c.5293C>G (p.Arg1765Gly) c.5272C>G (p.Arg1758Gly) c.5260C>G (p.Arg1754Gly) c.4594C>G (p.Arg1532Gly) c.4066C>G (p.Arg1356Gly) c.5281C>G (p.Arg1761Gly) | |
19 | g.5210693G= | CA2319812195 | PTPRS | n.657C= n.482C= c.5347C= (p.Arg1783=) c.4006C= (p.Arg1336=) c.5233C= (p.Arg1745=) c.4018C= (p.Arg1340=) n.4288C= c.5308C= (p.Arg1770=) c.5221C= (p.Arg1741=) c.3994C= (p.Arg1332=) c.5335C= (p.Arg1779=) c.5323C= (p.Arg1775=) c.5287C= (p.Arg1763=) c.5275C= (p.Arg1759=) c.5248C= (p.Arg1750=) c.4081C= (p.Arg1361=) c.4069C= (p.Arg1357=) c.4033C= (p.Arg1345=) c.4054C= (p.Arg1352=) c.2974C= (p.Arg992=) c.5320C= (p.Arg1774=) c.5293C= (p.Arg1765=) c.5272C= (p.Arg1758=) c.5260C= (p.Arg1754=) c.4594C= (p.Arg1532=) c.4066C= (p.Arg1356=) c.5281C= (p.Arg1761=) | |
19 | g.5210693G>T | CA505177037 | PTPRS | n.657C>A n.482C>A c.5347C>A (p.Arg1783=) c.4006C>A (p.Arg1336=) c.5233C>A (p.Arg1745=) c.4018C>A (p.Arg1340=) n.4288C>A c.5308C>A (p.Arg1770=) c.5221C>A (p.Arg1741=) c.3994C>A (p.Arg1332=) c.5335C>A (p.Arg1779=) c.5323C>A (p.Arg1775=) c.5287C>A (p.Arg1763=) c.5275C>A (p.Arg1759=) c.5248C>A (p.Arg1750=) c.4081C>A (p.Arg1361=) c.4069C>A (p.Arg1357=) c.4033C>A (p.Arg1345=) c.4054C>A (p.Arg1352=) c.2974C>A (p.Arg992=) c.5320C>A (p.Arg1774=) c.5293C>A (p.Arg1765=) c.5272C>A (p.Arg1758=) c.5260C>A (p.Arg1754=) c.4594C>A (p.Arg1532=) c.4066C>A (p.Arg1356=) c.5281C>A (p.Arg1761=) | |
19 | g.5210694C>A | CA505177038 | PTPRS | n.656G>T n.481G>T c.5346G>T (p.Leu1782=) c.4005G>T (p.Leu1335=) c.5232G>T (p.Leu1744=) c.4017G>T (p.Leu1339=) n.4287G>T c.5307G>T (p.Leu1769=) c.5220G>T (p.Leu1740=) c.3993G>T (p.Leu1331=) c.5334G>T (p.Leu1778=) c.5322G>T (p.Leu1774=) c.5286G>T (p.Leu1762=) c.5274G>T (p.Leu1758=) c.5247G>T (p.Leu1749=) c.4080G>T (p.Leu1360=) c.4068G>T (p.Leu1356=) c.4032G>T (p.Leu1344=) c.4053G>T (p.Leu1351=) c.2973G>T (p.Leu991=) c.5319G>T (p.Leu1773=) c.5292G>T (p.Leu1764=) c.5271G>T (p.Leu1757=) c.5259G>T (p.Leu1753=) c.4593G>T (p.Leu1531=) c.4065G>T (p.Leu1355=) c.5280G>T (p.Leu1760=) | |
19 | g.5210694C>G | CA505177039 | PTPRS | n.656G>C n.481G>C c.5346G>C (p.Leu1782=) c.4005G>C (p.Leu1335=) c.5232G>C (p.Leu1744=) c.4017G>C (p.Leu1339=) n.4287G>C c.5307G>C (p.Leu1769=) c.5220G>C (p.Leu1740=) c.3993G>C (p.Leu1331=) c.5334G>C (p.Leu1778=) c.5322G>C (p.Leu1774=) c.5286G>C (p.Leu1762=) c.5274G>C (p.Leu1758=) c.5247G>C (p.Leu1749=) c.4080G>C (p.Leu1360=) c.4068G>C (p.Leu1356=) c.4032G>C (p.Leu1344=) c.4053G>C (p.Leu1351=) c.2973G>C (p.Leu991=) c.5319G>C (p.Leu1773=) c.5292G>C (p.Leu1764=) c.5271G>C (p.Leu1757=) c.5259G>C (p.Leu1753=) c.4593G>C (p.Leu1531=) c.4065G>C (p.Leu1355=) c.5280G>C (p.Leu1760=) | |
19 | g.5210694C>T | CA505177040 | PTPRS | n.656G>A n.481G>A c.5346G>A (p.Leu1782=) c.4005G>A (p.Leu1335=) c.5232G>A (p.Leu1744=) c.4017G>A (p.Leu1339=) n.4287G>A c.5307G>A (p.Leu1769=) c.5220G>A (p.Leu1740=) c.3993G>A (p.Leu1331=) c.5334G>A (p.Leu1778=) c.5322G>A (p.Leu1774=) c.5286G>A (p.Leu1762=) c.5274G>A (p.Leu1758=) c.5247G>A (p.Leu1749=) c.4080G>A (p.Leu1360=) c.4068G>A (p.Leu1356=) c.4032G>A (p.Leu1344=) c.4053G>A (p.Leu1351=) c.2973G>A (p.Leu991=) c.5319G>A (p.Leu1773=) c.5292G>A (p.Leu1764=) c.5271G>A (p.Leu1757=) c.5259G>A (p.Leu1753=) c.4593G>A (p.Leu1531=) c.4065G>A (p.Leu1355=) c.5280G>A (p.Leu1760=) | |
19 | g.5210695A>C | CA403501901 | PTPRS | n.655T>G n.480T>G c.5345T>G (p.Leu1782Arg) c.4004T>G (p.Leu1335Arg) c.5231T>G (p.Leu1744Arg) c.4016T>G (p.Leu1339Arg) n.4286T>G c.5306T>G (p.Leu1769Arg) c.5219T>G (p.Leu1740Arg) c.3992T>G (p.Leu1331Arg) c.5333T>G (p.Leu1778Arg) c.5321T>G (p.Leu1774Arg) c.5285T>G (p.Leu1762Arg) c.5273T>G (p.Leu1758Arg) c.5246T>G (p.Leu1749Arg) c.4079T>G (p.Leu1360Arg) c.4067T>G (p.Leu1356Arg) c.4031T>G (p.Leu1344Arg) c.4052T>G (p.Leu1351Arg) c.2972T>G (p.Leu991Arg) c.5318T>G (p.Leu1773Arg) c.5291T>G (p.Leu1764Arg) c.5270T>G (p.Leu1757Arg) c.5258T>G (p.Leu1753Arg) c.4592T>G (p.Leu1531Arg) c.4064T>G (p.Leu1355Arg) c.5279T>G (p.Leu1760Arg) | |
19 | g.5210695A>G | CA403501904 | PTPRS | n.655T>C n.480T>C c.5345T>C (p.Leu1782Pro) c.4004T>C (p.Leu1335Pro) c.5231T>C (p.Leu1744Pro) c.4016T>C (p.Leu1339Pro) n.4286T>C c.5306T>C (p.Leu1769Pro) c.5219T>C (p.Leu1740Pro) c.3992T>C (p.Leu1331Pro) c.5333T>C (p.Leu1778Pro) c.5321T>C (p.Leu1774Pro) c.5285T>C (p.Leu1762Pro) c.5273T>C (p.Leu1758Pro) c.5246T>C (p.Leu1749Pro) c.4079T>C (p.Leu1360Pro) c.4067T>C (p.Leu1356Pro) c.4031T>C (p.Leu1344Pro) c.4052T>C (p.Leu1351Pro) c.2972T>C (p.Leu991Pro) c.5318T>C (p.Leu1773Pro) c.5291T>C (p.Leu1764Pro) c.5270T>C (p.Leu1757Pro) c.5258T>C (p.Leu1753Pro) c.4592T>C (p.Leu1531Pro) c.4064T>C (p.Leu1355Pro) c.5279T>C (p.Leu1760Pro) | |
19 | g.5210695A>T | CA403501899 | PTPRS | n.655T>A n.480T>A c.5345T>A (p.Leu1782Gln) c.4004T>A (p.Leu1335Gln) c.5231T>A (p.Leu1744Gln) c.4016T>A (p.Leu1339Gln) n.4286T>A c.5306T>A (p.Leu1769Gln) c.5219T>A (p.Leu1740Gln) c.3992T>A (p.Leu1331Gln) c.5333T>A (p.Leu1778Gln) c.5321T>A (p.Leu1774Gln) c.5285T>A (p.Leu1762Gln) c.5273T>A (p.Leu1758Gln) c.5246T>A (p.Leu1749Gln) c.4079T>A (p.Leu1360Gln) c.4067T>A (p.Leu1356Gln) c.4031T>A (p.Leu1344Gln) c.4052T>A (p.Leu1351Gln) c.2972T>A (p.Leu991Gln) c.5318T>A (p.Leu1773Gln) c.5291T>A (p.Leu1764Gln) c.5270T>A (p.Leu1757Gln) c.5258T>A (p.Leu1753Gln) c.4592T>A (p.Leu1531Gln) c.4064T>A (p.Leu1355Gln) c.5279T>A (p.Leu1760Gln) | |
19 | g.5210696G>A | CA505177041 | PTPRS | n.654C>T n.479C>T c.5344C>T (p.Leu1782=) c.4003C>T (p.Leu1335=) c.5230C>T (p.Leu1744=) c.4015C>T (p.Leu1339=) n.4285C>T c.5305C>T (p.Leu1769=) c.5218C>T (p.Leu1740=) c.3991C>T (p.Leu1331=) c.5332C>T (p.Leu1778=) c.5320C>T (p.Leu1774=) c.5284C>T (p.Leu1762=) c.5272C>T (p.Leu1758=) c.5245C>T (p.Leu1749=) c.4078C>T (p.Leu1360=) c.4066C>T (p.Leu1356=) c.4030C>T (p.Leu1344=) c.4051C>T (p.Leu1351=) c.2971C>T (p.Leu991=) c.5317C>T (p.Leu1773=) c.5290C>T (p.Leu1764=) c.5269C>T (p.Leu1757=) c.5257C>T (p.Leu1753=) c.4591C>T (p.Leu1531=) c.4063C>T (p.Leu1355=) c.5278C>T (p.Leu1760=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.5210696G>C | CA403501907 | PTPRS | n.654C>G n.479C>G c.5344C>G (p.Leu1782Val) c.4003C>G (p.Leu1335Val) c.5230C>G (p.Leu1744Val) c.4015C>G (p.Leu1339Val) n.4285C>G c.5305C>G (p.Leu1769Val) c.5218C>G (p.Leu1740Val) c.3991C>G (p.Leu1331Val) c.5332C>G (p.Leu1778Val) c.5320C>G (p.Leu1774Val) c.5284C>G (p.Leu1762Val) c.5272C>G (p.Leu1758Val) c.5245C>G (p.Leu1749Val) c.4078C>G (p.Leu1360Val) c.4066C>G (p.Leu1356Val) c.4030C>G (p.Leu1344Val) c.4051C>G (p.Leu1351Val) c.2971C>G (p.Leu991Val) c.5317C>G (p.Leu1773Val) c.5290C>G (p.Leu1764Val) c.5269C>G (p.Leu1757Val) c.5257C>G (p.Leu1753Val) c.4591C>G (p.Leu1531Val) c.4063C>G (p.Leu1355Val) c.5278C>G (p.Leu1760Val) | |
19 | g.5210696G= | CA2319812196 | PTPRS | n.654C= n.479C= c.5344C= (p.Leu1782=) c.4003C= (p.Leu1335=) c.5230C= (p.Leu1744=) c.4015C= (p.Leu1339=) n.4285C= c.5305C= (p.Leu1769=) c.5218C= (p.Leu1740=) c.3991C= (p.Leu1331=) c.5332C= (p.Leu1778=) c.5320C= (p.Leu1774=) c.5284C= (p.Leu1762=) c.5272C= (p.Leu1758=) c.5245C= (p.Leu1749=) c.4078C= (p.Leu1360=) c.4066C= (p.Leu1356=) c.4030C= (p.Leu1344=) c.4051C= (p.Leu1351=) c.2971C= (p.Leu991=) c.5317C= (p.Leu1773=) c.5290C= (p.Leu1764=) c.5269C= (p.Leu1757=) c.5257C= (p.Leu1753=) c.4591C= (p.Leu1531=) c.4063C= (p.Leu1355=) c.5278C= (p.Leu1760=) | |
19 | g.5210696G>T | CA403501905 | PTPRS | n.654C>A n.479C>A c.5344C>A (p.Leu1782Met) c.4003C>A (p.Leu1335Met) c.5230C>A (p.Leu1744Met) c.4015C>A (p.Leu1339Met) n.4285C>A c.5305C>A (p.Leu1769Met) c.5218C>A (p.Leu1740Met) c.3991C>A (p.Leu1331Met) c.5332C>A (p.Leu1778Met) c.5320C>A (p.Leu1774Met) c.5284C>A (p.Leu1762Met) c.5272C>A (p.Leu1758Met) c.5245C>A (p.Leu1749Met) c.4078C>A (p.Leu1360Met) c.4066C>A (p.Leu1356Met) c.4030C>A (p.Leu1344Met) c.4051C>A (p.Leu1351Met) c.2971C>A (p.Leu991Met) c.5317C>A (p.Leu1773Met) c.5290C>A (p.Leu1764Met) c.5269C>A (p.Leu1757Met) c.5257C>A (p.Leu1753Met) c.4591C>A (p.Leu1531Met) c.4063C>A (p.Leu1355Met) c.5278C>A (p.Leu1760Met) | gnomAD v4 |
19 | g.5210697C>A | CA403501909 | PTPRS | n.653G>T n.478G>T c.5343G>T (p.Lys1781Asn) c.4002G>T (p.Lys1334Asn) c.5229G>T (p.Lys1743Asn) c.4014G>T (p.Lys1338Asn) n.4284G>T c.5304G>T (p.Lys1768Asn) c.5217G>T (p.Lys1739Asn) c.3990G>T (p.Lys1330Asn) c.5331G>T (p.Lys1777Asn) c.5319G>T (p.Lys1773Asn) c.5283G>T (p.Lys1761Asn) c.5271G>T (p.Lys1757Asn) c.5244G>T (p.Lys1748Asn) c.4077G>T (p.Lys1359Asn) c.4065G>T (p.Lys1355Asn) c.4029G>T (p.Lys1343Asn) c.4050G>T (p.Lys1350Asn) c.2970G>T (p.Lys990Asn) c.5316G>T (p.Lys1772Asn) c.5289G>T (p.Lys1763Asn) c.5268G>T (p.Lys1756Asn) c.5256G>T (p.Lys1752Asn) c.4590G>T (p.Lys1530Asn) c.4062G>T (p.Lys1354Asn) c.5277G>T (p.Lys1759Asn) | |
19 | g.5210697C>G | CA403501910 | PTPRS | n.653G>C n.478G>C c.5343G>C (p.Lys1781Asn) c.4002G>C (p.Lys1334Asn) c.5229G>C (p.Lys1743Asn) c.4014G>C (p.Lys1338Asn) n.4284G>C c.5304G>C (p.Lys1768Asn) c.5217G>C (p.Lys1739Asn) c.3990G>C (p.Lys1330Asn) c.5331G>C (p.Lys1777Asn) c.5319G>C (p.Lys1773Asn) c.5283G>C (p.Lys1761Asn) c.5271G>C (p.Lys1757Asn) c.5244G>C (p.Lys1748Asn) c.4077G>C (p.Lys1359Asn) c.4065G>C (p.Lys1355Asn) c.4029G>C (p.Lys1343Asn) c.4050G>C (p.Lys1350Asn) c.2970G>C (p.Lys990Asn) c.5316G>C (p.Lys1772Asn) c.5289G>C (p.Lys1763Asn) c.5268G>C (p.Lys1756Asn) c.5256G>C (p.Lys1752Asn) c.4590G>C (p.Lys1530Asn) c.4062G>C (p.Lys1354Asn) c.5277G>C (p.Lys1759Asn) | |
19 | g.5210697C>T | CA505177042 | PTPRS | n.653G>A n.478G>A c.5343G>A (p.Lys1781=) c.4002G>A (p.Lys1334=) c.5229G>A (p.Lys1743=) c.4014G>A (p.Lys1338=) n.4284G>A c.5304G>A (p.Lys1768=) c.5217G>A (p.Lys1739=) c.3990G>A (p.Lys1330=) c.5331G>A (p.Lys1777=) c.5319G>A (p.Lys1773=) c.5283G>A (p.Lys1761=) c.5271G>A (p.Lys1757=) c.5244G>A (p.Lys1748=) c.4077G>A (p.Lys1359=) c.4065G>A (p.Lys1355=) c.4029G>A (p.Lys1343=) c.4050G>A (p.Lys1350=) c.2970G>A (p.Lys990=) c.5316G>A (p.Lys1772=) c.5289G>A (p.Lys1763=) c.5268G>A (p.Lys1756=) c.5256G>A (p.Lys1752=) c.4590G>A (p.Lys1530=) c.4062G>A (p.Lys1354=) c.5277G>A (p.Lys1759=) | dbSNP |
19 | g.5210698T>A | CA403501912 | PTPRS | n.652A>T n.477A>T c.5342A>T (p.Lys1781Met) c.4001A>T (p.Lys1334Met) c.5228A>T (p.Lys1743Met) c.4013A>T (p.Lys1338Met) n.4283A>T c.5303A>T (p.Lys1768Met) c.5216A>T (p.Lys1739Met) c.3989A>T (p.Lys1330Met) c.5330A>T (p.Lys1777Met) c.5318A>T (p.Lys1773Met) c.5282A>T (p.Lys1761Met) c.5270A>T (p.Lys1757Met) c.5243A>T (p.Lys1748Met) c.4076A>T (p.Lys1359Met) c.4064A>T (p.Lys1355Met) c.4028A>T (p.Lys1343Met) c.4049A>T (p.Lys1350Met) c.2969A>T (p.Lys990Met) c.5315A>T (p.Lys1772Met) c.5288A>T (p.Lys1763Met) c.5267A>T (p.Lys1756Met) c.5255A>T (p.Lys1752Met) c.4589A>T (p.Lys1530Met) c.4061A>T (p.Lys1354Met) c.5276A>T (p.Lys1759Met) | |
19 | g.5210698T>C | CA403501914 | PTPRS | n.652A>G n.477A>G c.5342A>G (p.Lys1781Arg) c.4001A>G (p.Lys1334Arg) c.5228A>G (p.Lys1743Arg) c.4013A>G (p.Lys1338Arg) n.4283A>G c.5303A>G (p.Lys1768Arg) c.5216A>G (p.Lys1739Arg) c.3989A>G (p.Lys1330Arg) c.5330A>G (p.Lys1777Arg) c.5318A>G (p.Lys1773Arg) c.5282A>G (p.Lys1761Arg) c.5270A>G (p.Lys1757Arg) c.5243A>G (p.Lys1748Arg) c.4076A>G (p.Lys1359Arg) c.4064A>G (p.Lys1355Arg) c.4028A>G (p.Lys1343Arg) c.4049A>G (p.Lys1350Arg) c.2969A>G (p.Lys990Arg) c.5315A>G (p.Lys1772Arg) c.5288A>G (p.Lys1763Arg) c.5267A>G (p.Lys1756Arg) c.5255A>G (p.Lys1752Arg) c.4589A>G (p.Lys1530Arg) c.4061A>G (p.Lys1354Arg) c.5276A>G (p.Lys1759Arg) | |
19 | g.5210698T>G | CA403501916 | PTPRS | n.652A>C n.477A>C c.5342A>C (p.Lys1781Thr) c.4001A>C (p.Lys1334Thr) c.5228A>C (p.Lys1743Thr) c.4013A>C (p.Lys1338Thr) n.4283A>C c.5303A>C (p.Lys1768Thr) c.5216A>C (p.Lys1739Thr) c.3989A>C (p.Lys1330Thr) c.5330A>C (p.Lys1777Thr) c.5318A>C (p.Lys1773Thr) c.5282A>C (p.Lys1761Thr) c.5270A>C (p.Lys1757Thr) c.5243A>C (p.Lys1748Thr) c.4076A>C (p.Lys1359Thr) c.4064A>C (p.Lys1355Thr) c.4028A>C (p.Lys1343Thr) c.4049A>C (p.Lys1350Thr) c.2969A>C (p.Lys990Thr) c.5315A>C (p.Lys1772Thr) c.5288A>C (p.Lys1763Thr) c.5267A>C (p.Lys1756Thr) c.5255A>C (p.Lys1752Thr) c.4589A>C (p.Lys1530Thr) c.4061A>C (p.Lys1354Thr) c.5276A>C (p.Lys1759Thr) | |
19 | g.5210699T>A | CA403501918 | PTPRS | n.651A>T n.476A>T c.5341A>T (p.Lys1781Ter) c.4000A>T (p.Lys1334Ter) c.5227A>T (p.Lys1743Ter) c.4012A>T (p.Lys1338Ter) n.4282A>T c.5302A>T (p.Lys1768Ter) c.5215A>T (p.Lys1739Ter) c.3988A>T (p.Lys1330Ter) c.5329A>T (p.Lys1777Ter) c.5317A>T (p.Lys1773Ter) c.5281A>T (p.Lys1761Ter) c.5269A>T (p.Lys1757Ter) c.5242A>T (p.Lys1748Ter) c.4075A>T (p.Lys1359Ter) c.4063A>T (p.Lys1355Ter) c.4027A>T (p.Lys1343Ter) c.4048A>T (p.Lys1350Ter) c.2968A>T (p.Lys990Ter) c.5314A>T (p.Lys1772Ter) c.5287A>T (p.Lys1763Ter) c.5266A>T (p.Lys1756Ter) c.5254A>T (p.Lys1752Ter) c.4588A>T (p.Lys1530Ter) c.4060A>T (p.Lys1354Ter) c.5275A>T (p.Lys1759Ter) | |
19 | g.5210699T>C | CA9108766 | PTPRS | n.651A>G n.476A>G c.5341A>G (p.Lys1781Glu) c.4000A>G (p.Lys1334Glu) c.5227A>G (p.Lys1743Glu) c.4012A>G (p.Lys1338Glu) n.4282A>G c.5302A>G (p.Lys1768Glu) c.5215A>G (p.Lys1739Glu) c.3988A>G (p.Lys1330Glu) c.5329A>G (p.Lys1777Glu) c.5317A>G (p.Lys1773Glu) c.5281A>G (p.Lys1761Glu) c.5269A>G (p.Lys1757Glu) c.5242A>G (p.Lys1748Glu) c.4075A>G (p.Lys1359Glu) c.4063A>G (p.Lys1355Glu) c.4027A>G (p.Lys1343Glu) c.4048A>G (p.Lys1350Glu) c.2968A>G (p.Lys990Glu) c.5314A>G (p.Lys1772Glu) c.5287A>G (p.Lys1763Glu) c.5266A>G (p.Lys1756Glu) c.5254A>G (p.Lys1752Glu) c.4588A>G (p.Lys1530Glu) c.4060A>G (p.Lys1354Glu) c.5275A>G (p.Lys1759Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.5210699T>G | CA403501921 | PTPRS | n.651A>C n.476A>C c.5341A>C (p.Lys1781Gln) c.4000A>C (p.Lys1334Gln) c.5227A>C (p.Lys1743Gln) c.4012A>C (p.Lys1338Gln) n.4282A>C c.5302A>C (p.Lys1768Gln) c.5215A>C (p.Lys1739Gln) c.3988A>C (p.Lys1330Gln) c.5329A>C (p.Lys1777Gln) c.5317A>C (p.Lys1773Gln) c.5281A>C (p.Lys1761Gln) c.5269A>C (p.Lys1757Gln) c.5242A>C (p.Lys1748Gln) c.4075A>C (p.Lys1359Gln) c.4063A>C (p.Lys1355Gln) c.4027A>C (p.Lys1343Gln) c.4048A>C (p.Lys1350Gln) c.2968A>C (p.Lys990Gln) c.5314A>C (p.Lys1772Gln) c.5287A>C (p.Lys1763Gln) c.5266A>C (p.Lys1756Gln) c.5254A>C (p.Lys1752Gln) c.4588A>C (p.Lys1530Gln) c.4060A>C (p.Lys1354Gln) c.5275A>C (p.Lys1759Gln) | |
19 | g.5210699T= | CA2319812197 | PTPRS | n.651A= n.476A= c.5341A= (p.Lys1781=) c.4000A= (p.Lys1334=) c.5227A= (p.Lys1743=) c.4012A= (p.Lys1338=) n.4282A= c.5302A= (p.Lys1768=) c.5215A= (p.Lys1739=) c.3988A= (p.Lys1330=) c.5329A= (p.Lys1777=) c.5317A= (p.Lys1773=) c.5281A= (p.Lys1761=) c.5269A= (p.Lys1757=) c.5242A= (p.Lys1748=) c.4075A= (p.Lys1359=) c.4063A= (p.Lys1355=) c.4027A= (p.Lys1343=) c.4048A= (p.Lys1350=) c.2968A= (p.Lys990=) c.5314A= (p.Lys1772=) c.5287A= (p.Lys1763=) c.5266A= (p.Lys1756=) c.5254A= (p.Lys1752=) c.4588A= (p.Lys1530=) c.4060A= (p.Lys1354=) c.5275A= (p.Lys1759=) | |
19 | g.5210700G>A | CA505177043 | PTPRS | n.650C>T n.475C>T c.5340C>T (p.Thr1780=) c.3999C>T (p.Thr1333=) c.5226C>T (p.Thr1742=) c.4011C>T (p.Thr1337=) n.4281C>T c.5301C>T (p.Thr1767=) c.5214C>T (p.Thr1738=) c.3987C>T (p.Thr1329=) c.5328C>T (p.Thr1776=) c.5316C>T (p.Thr1772=) c.5280C>T (p.Thr1760=) c.5268C>T (p.Thr1756=) c.5241C>T (p.Thr1747=) c.4074C>T (p.Thr1358=) c.4062C>T (p.Thr1354=) c.4026C>T (p.Thr1342=) c.4047C>T (p.Thr1349=) c.2967C>T (p.Thr989=) c.5313C>T (p.Thr1771=) c.5286C>T (p.Thr1762=) c.5265C>T (p.Thr1755=) c.5253C>T (p.Thr1751=) c.4587C>T (p.Thr1529=) c.4059C>T (p.Thr1353=) c.5274C>T (p.Thr1758=) | gnomAD v4 |
19 | g.5210700G>C | CA505177044 | PTPRS | n.650C>G n.475C>G c.5340C>G (p.Thr1780=) c.3999C>G (p.Thr1333=) c.5226C>G (p.Thr1742=) c.4011C>G (p.Thr1337=) n.4281C>G c.5301C>G (p.Thr1767=) c.5214C>G (p.Thr1738=) c.3987C>G (p.Thr1329=) c.5328C>G (p.Thr1776=) c.5316C>G (p.Thr1772=) c.5280C>G (p.Thr1760=) c.5268C>G (p.Thr1756=) c.5241C>G (p.Thr1747=) c.4074C>G (p.Thr1358=) c.4062C>G (p.Thr1354=) c.4026C>G (p.Thr1342=) c.4047C>G (p.Thr1349=) c.2967C>G (p.Thr989=) c.5313C>G (p.Thr1771=) c.5286C>G (p.Thr1762=) c.5265C>G (p.Thr1755=) c.5253C>G (p.Thr1751=) c.4587C>G (p.Thr1529=) c.4059C>G (p.Thr1353=) c.5274C>G (p.Thr1758=) | dbSNP |
19 | g.5210700G>T | CA505177045 | PTPRS | n.650C>A n.475C>A c.5340C>A (p.Thr1780=) c.3999C>A (p.Thr1333=) c.5226C>A (p.Thr1742=) c.4011C>A (p.Thr1337=) n.4281C>A c.5301C>A (p.Thr1767=) c.5214C>A (p.Thr1738=) c.3987C>A (p.Thr1329=) c.5328C>A (p.Thr1776=) c.5316C>A (p.Thr1772=) c.5280C>A (p.Thr1760=) c.5268C>A (p.Thr1756=) c.5241C>A (p.Thr1747=) c.4074C>A (p.Thr1358=) c.4062C>A (p.Thr1354=) c.4026C>A (p.Thr1342=) c.4047C>A (p.Thr1349=) c.2967C>A (p.Thr989=) c.5313C>A (p.Thr1771=) c.5286C>A (p.Thr1762=) c.5265C>A (p.Thr1755=) c.5253C>A (p.Thr1751=) c.4587C>A (p.Thr1529=) c.4059C>A (p.Thr1353=) c.5274C>A (p.Thr1758=) | |
19 | g.5210701G>A | CA403501924 | PTPRS | n.649C>T n.474C>T c.5339C>T (p.Thr1780Ile) c.3998C>T (p.Thr1333Ile) c.5225C>T (p.Thr1742Ile) c.4010C>T (p.Thr1337Ile) n.4280C>T c.5300C>T (p.Thr1767Ile) c.5213C>T (p.Thr1738Ile) c.3986C>T (p.Thr1329Ile) c.5327C>T (p.Thr1776Ile) c.5315C>T (p.Thr1772Ile) c.5279C>T (p.Thr1760Ile) c.5267C>T (p.Thr1756Ile) c.5240C>T (p.Thr1747Ile) c.4073C>T (p.Thr1358Ile) c.4061C>T (p.Thr1354Ile) c.4025C>T (p.Thr1342Ile) c.4046C>T (p.Thr1349Ile) c.2966C>T (p.Thr989Ile) c.5312C>T (p.Thr1771Ile) c.5285C>T (p.Thr1762Ile) c.5264C>T (p.Thr1755Ile) c.5252C>T (p.Thr1751Ile) c.4586C>T (p.Thr1529Ile) c.4058C>T (p.Thr1353Ile) c.5273C>T (p.Thr1758Ile) | |
19 | g.5210701G>C | CA403501925 | PTPRS | n.649C>G n.474C>G c.5339C>G (p.Thr1780Ser) c.3998C>G (p.Thr1333Ser) c.5225C>G (p.Thr1742Ser) c.4010C>G (p.Thr1337Ser) n.4280C>G c.5300C>G (p.Thr1767Ser) c.5213C>G (p.Thr1738Ser) c.3986C>G (p.Thr1329Ser) c.5327C>G (p.Thr1776Ser) c.5315C>G (p.Thr1772Ser) c.5279C>G (p.Thr1760Ser) c.5267C>G (p.Thr1756Ser) c.5240C>G (p.Thr1747Ser) c.4073C>G (p.Thr1358Ser) c.4061C>G (p.Thr1354Ser) c.4025C>G (p.Thr1342Ser) c.4046C>G (p.Thr1349Ser) c.2966C>G (p.Thr989Ser) c.5312C>G (p.Thr1771Ser) c.5285C>G (p.Thr1762Ser) c.5264C>G (p.Thr1755Ser) c.5252C>G (p.Thr1751Ser) c.4586C>G (p.Thr1529Ser) c.4058C>G (p.Thr1353Ser) c.5273C>G (p.Thr1758Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.5210701G= | CA2319812198 | PTPRS | n.649C= n.474C= c.5339C= (p.Thr1780=) c.3998C= (p.Thr1333=) c.5225C= (p.Thr1742=) c.4010C= (p.Thr1337=) n.4280C= c.5300C= (p.Thr1767=) c.5213C= (p.Thr1738=) c.3986C= (p.Thr1329=) c.5327C= (p.Thr1776=) c.5315C= (p.Thr1772=) c.5279C= (p.Thr1760=) c.5267C= (p.Thr1756=) c.5240C= (p.Thr1747=) c.4073C= (p.Thr1358=) c.4061C= (p.Thr1354=) c.4025C= (p.Thr1342=) c.4046C= (p.Thr1349=) c.2966C= (p.Thr989=) c.5312C= (p.Thr1771=) c.5285C= (p.Thr1762=) c.5264C= (p.Thr1755=) c.5252C= (p.Thr1751=) c.4586C= (p.Thr1529=) c.4058C= (p.Thr1353=) c.5273C= (p.Thr1758=) | |
19 | g.5210701G>T | CA403501928 | PTPRS | n.649C>A n.474C>A c.5339C>A (p.Thr1780Asn) c.3998C>A (p.Thr1333Asn) c.5225C>A (p.Thr1742Asn) c.4010C>A (p.Thr1337Asn) n.4280C>A c.5300C>A (p.Thr1767Asn) c.5213C>A (p.Thr1738Asn) c.3986C>A (p.Thr1329Asn) c.5327C>A (p.Thr1776Asn) c.5315C>A (p.Thr1772Asn) c.5279C>A (p.Thr1760Asn) c.5267C>A (p.Thr1756Asn) c.5240C>A (p.Thr1747Asn) c.4073C>A (p.Thr1358Asn) c.4061C>A (p.Thr1354Asn) c.4025C>A (p.Thr1342Asn) c.4046C>A (p.Thr1349Asn) c.2966C>A (p.Thr989Asn) c.5312C>A (p.Thr1771Asn) c.5285C>A (p.Thr1762Asn) c.5264C>A (p.Thr1755Asn) c.5252C>A (p.Thr1751Asn) c.4586C>A (p.Thr1529Asn) c.4058C>A (p.Thr1353Asn) c.5273C>A (p.Thr1758Asn) | |
19 | g.5210702T>A | CA403501933 | PTPRS | n.648A>T n.473A>T c.5338A>T (p.Thr1780Ser) c.3997A>T (p.Thr1333Ser) c.5224A>T (p.Thr1742Ser) c.4009A>T (p.Thr1337Ser) n.4279A>T c.5299A>T (p.Thr1767Ser) c.5212A>T (p.Thr1738Ser) c.3985A>T (p.Thr1329Ser) c.5326A>T (p.Thr1776Ser) c.5314A>T (p.Thr1772Ser) c.5278A>T (p.Thr1760Ser) c.5266A>T (p.Thr1756Ser) c.5239A>T (p.Thr1747Ser) c.4072A>T (p.Thr1358Ser) c.4060A>T (p.Thr1354Ser) c.4024A>T (p.Thr1342Ser) c.4045A>T (p.Thr1349Ser) c.2965A>T (p.Thr989Ser) c.5311A>T (p.Thr1771Ser) c.5284A>T (p.Thr1762Ser) c.5263A>T (p.Thr1755Ser) c.5251A>T (p.Thr1751Ser) c.4585A>T (p.Thr1529Ser) c.4057A>T (p.Thr1353Ser) c.5272A>T (p.Thr1758Ser) | |
19 | g.5210702T>C | CA403501932 | PTPRS | n.648A>G n.473A>G c.5338A>G (p.Thr1780Ala) c.3997A>G (p.Thr1333Ala) c.5224A>G (p.Thr1742Ala) c.4009A>G (p.Thr1337Ala) n.4279A>G c.5299A>G (p.Thr1767Ala) c.5212A>G (p.Thr1738Ala) c.3985A>G (p.Thr1329Ala) c.5326A>G (p.Thr1776Ala) c.5314A>G (p.Thr1772Ala) c.5278A>G (p.Thr1760Ala) c.5266A>G (p.Thr1756Ala) c.5239A>G (p.Thr1747Ala) c.4072A>G (p.Thr1358Ala) c.4060A>G (p.Thr1354Ala) c.4024A>G (p.Thr1342Ala) c.4045A>G (p.Thr1349Ala) c.2965A>G (p.Thr989Ala) c.5311A>G (p.Thr1771Ala) c.5284A>G (p.Thr1762Ala) c.5263A>G (p.Thr1755Ala) c.5251A>G (p.Thr1751Ala) c.4585A>G (p.Thr1529Ala) c.4057A>G (p.Thr1353Ala) c.5272A>G (p.Thr1758Ala) | |
19 | g.5210702T>G | CA403501930 | PTPRS | n.648A>C n.473A>C c.5338A>C (p.Thr1780Pro) c.3997A>C (p.Thr1333Pro) c.5224A>C (p.Thr1742Pro) c.4009A>C (p.Thr1337Pro) n.4279A>C c.5299A>C (p.Thr1767Pro) c.5212A>C (p.Thr1738Pro) c.3985A>C (p.Thr1329Pro) c.5326A>C (p.Thr1776Pro) c.5314A>C (p.Thr1772Pro) c.5278A>C (p.Thr1760Pro) c.5266A>C (p.Thr1756Pro) c.5239A>C (p.Thr1747Pro) c.4072A>C (p.Thr1358Pro) c.4060A>C (p.Thr1354Pro) c.4024A>C (p.Thr1342Pro) c.4045A>C (p.Thr1349Pro) c.2965A>C (p.Thr989Pro) c.5311A>C (p.Thr1771Pro) c.5284A>C (p.Thr1762Pro) c.5263A>C (p.Thr1755Pro) c.5251A>C (p.Thr1751Pro) c.4585A>C (p.Thr1529Pro) c.4057A>C (p.Thr1353Pro) c.5272A>C (p.Thr1758Pro) | |
19 | g.5210703C>A | CA505177046 | PTPRS | n.647G>T n.472G>T c.5337G>T (p.Leu1779=) c.3996G>T (p.Leu1332=) c.5223G>T (p.Leu1741=) c.4008G>T (p.Leu1336=) n.4278G>T c.5298G>T (p.Leu1766=) c.5211G>T (p.Leu1737=) c.3984G>T (p.Leu1328=) c.5325G>T (p.Leu1775=) c.5313G>T (p.Leu1771=) c.5277G>T (p.Leu1759=) c.5265G>T (p.Leu1755=) c.5238G>T (p.Leu1746=) c.4071G>T (p.Leu1357=) c.4059G>T (p.Leu1353=) c.4023G>T (p.Leu1341=) c.4044G>T (p.Leu1348=) c.2964G>T (p.Leu988=) c.5310G>T (p.Leu1770=) c.5283G>T (p.Leu1761=) c.5262G>T (p.Leu1754=) c.5250G>T (p.Leu1750=) c.4584G>T (p.Leu1528=) c.4056G>T (p.Leu1352=) c.5271G>T (p.Leu1757=) | |
19 | g.5210703C= | CA2319812199 | PTPRS | n.647G= n.472G= c.5337G= (p.Leu1779=) c.3996G= (p.Leu1332=) c.5223G= (p.Leu1741=) c.4008G= (p.Leu1336=) n.4278G= c.5298G= (p.Leu1766=) c.5211G= (p.Leu1737=) c.3984G= (p.Leu1328=) c.5325G= (p.Leu1775=) c.5313G= (p.Leu1771=) c.5277G= (p.Leu1759=) c.5265G= (p.Leu1755=) c.5238G= (p.Leu1746=) c.4071G= (p.Leu1357=) c.4059G= (p.Leu1353=) c.4023G= (p.Leu1341=) c.4044G= (p.Leu1348=) c.2964G= (p.Leu988=) c.5310G= (p.Leu1770=) c.5283G= (p.Leu1761=) c.5262G= (p.Leu1754=) c.5250G= (p.Leu1750=) c.4584G= (p.Leu1528=) c.4056G= (p.Leu1352=) c.5271G= (p.Leu1757=) | |
19 | g.5210703C>G | CA505177047 | PTPRS | n.647G>C n.472G>C c.5337G>C (p.Leu1779=) c.3996G>C (p.Leu1332=) c.5223G>C (p.Leu1741=) c.4008G>C (p.Leu1336=) n.4278G>C c.5298G>C (p.Leu1766=) c.5211G>C (p.Leu1737=) c.3984G>C (p.Leu1328=) c.5325G>C (p.Leu1775=) c.5313G>C (p.Leu1771=) c.5277G>C (p.Leu1759=) c.5265G>C (p.Leu1755=) c.5238G>C (p.Leu1746=) c.4071G>C (p.Leu1357=) c.4059G>C (p.Leu1353=) c.4023G>C (p.Leu1341=) c.4044G>C (p.Leu1348=) c.2964G>C (p.Leu988=) c.5310G>C (p.Leu1770=) c.5283G>C (p.Leu1761=) c.5262G>C (p.Leu1754=) c.5250G>C (p.Leu1750=) c.4584G>C (p.Leu1528=) c.4056G>C (p.Leu1352=) c.5271G>C (p.Leu1757=) | |
19 | g.5210703C>T | CA9108767 | PTPRS | n.647G>A n.472G>A c.5337G>A (p.Leu1779=) c.3996G>A (p.Leu1332=) c.5223G>A (p.Leu1741=) c.4008G>A (p.Leu1336=) n.4278G>A c.5298G>A (p.Leu1766=) c.5211G>A (p.Leu1737=) c.3984G>A (p.Leu1328=) c.5325G>A (p.Leu1775=) c.5313G>A (p.Leu1771=) c.5277G>A (p.Leu1759=) c.5265G>A (p.Leu1755=) c.5238G>A (p.Leu1746=) c.4071G>A (p.Leu1357=) c.4059G>A (p.Leu1353=) c.4023G>A (p.Leu1341=) c.4044G>A (p.Leu1348=) c.2964G>A (p.Leu988=) c.5310G>A (p.Leu1770=) c.5283G>A (p.Leu1761=) c.5262G>A (p.Leu1754=) c.5250G>A (p.Leu1750=) c.4584G>A (p.Leu1528=) c.4056G>A (p.Leu1352=) c.5271G>A (p.Leu1757=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.5210704A>C | CA403501937 | PTPRS | n.646T>G n.471T>G c.5336T>G (p.Leu1779Arg) c.3995T>G (p.Leu1332Arg) c.5222T>G (p.Leu1741Arg) c.4007T>G (p.Leu1336Arg) n.4277T>G c.5297T>G (p.Leu1766Arg) c.5210T>G (p.Leu1737Arg) c.3983T>G (p.Leu1328Arg) c.5324T>G (p.Leu1775Arg) c.5312T>G (p.Leu1771Arg) c.5276T>G (p.Leu1759Arg) c.5264T>G (p.Leu1755Arg) c.5237T>G (p.Leu1746Arg) c.4070T>G (p.Leu1357Arg) c.4058T>G (p.Leu1353Arg) c.4022T>G (p.Leu1341Arg) c.4043T>G (p.Leu1348Arg) c.2963T>G (p.Leu988Arg) c.5309T>G (p.Leu1770Arg) c.5282T>G (p.Leu1761Arg) c.5261T>G (p.Leu1754Arg) c.5249T>G (p.Leu1750Arg) c.4583T>G (p.Leu1528Arg) c.4055T>G (p.Leu1352Arg) c.5270T>G (p.Leu1757Arg) | |
19 | g.5210704A>G | CA403501939 | PTPRS | n.646T>C n.471T>C c.5336T>C (p.Leu1779Pro) c.3995T>C (p.Leu1332Pro) c.5222T>C (p.Leu1741Pro) c.4007T>C (p.Leu1336Pro) n.4277T>C c.5297T>C (p.Leu1766Pro) c.5210T>C (p.Leu1737Pro) c.3983T>C (p.Leu1328Pro) c.5324T>C (p.Leu1775Pro) c.5312T>C (p.Leu1771Pro) c.5276T>C (p.Leu1759Pro) c.5264T>C (p.Leu1755Pro) c.5237T>C (p.Leu1746Pro) c.4070T>C (p.Leu1357Pro) c.4058T>C (p.Leu1353Pro) c.4022T>C (p.Leu1341Pro) c.4043T>C (p.Leu1348Pro) c.2963T>C (p.Leu988Pro) c.5309T>C (p.Leu1770Pro) c.5282T>C (p.Leu1761Pro) c.5261T>C (p.Leu1754Pro) c.5249T>C (p.Leu1750Pro) c.4583T>C (p.Leu1528Pro) c.4055T>C (p.Leu1352Pro) c.5270T>C (p.Leu1757Pro) | |
19 | g.5210704A>T | CA403501940 | PTPRS | n.646T>A n.471T>A c.5336T>A (p.Leu1779Gln) c.3995T>A (p.Leu1332Gln) c.5222T>A (p.Leu1741Gln) c.4007T>A (p.Leu1336Gln) n.4277T>A c.5297T>A (p.Leu1766Gln) c.5210T>A (p.Leu1737Gln) c.3983T>A (p.Leu1328Gln) c.5324T>A (p.Leu1775Gln) c.5312T>A (p.Leu1771Gln) c.5276T>A (p.Leu1759Gln) c.5264T>A (p.Leu1755Gln) c.5237T>A (p.Leu1746Gln) c.4070T>A (p.Leu1357Gln) c.4058T>A (p.Leu1353Gln) c.4022T>A (p.Leu1341Gln) c.4043T>A (p.Leu1348Gln) c.2963T>A (p.Leu988Gln) c.5309T>A (p.Leu1770Gln) c.5282T>A (p.Leu1761Gln) c.5261T>A (p.Leu1754Gln) c.5249T>A (p.Leu1750Gln) c.4583T>A (p.Leu1528Gln) c.4055T>A (p.Leu1352Gln) c.5270T>A (p.Leu1757Gln) | |
19 | g.5210705G>A | CA505177048 | PTPRS | n.645C>T n.470C>T c.5335C>T (p.Leu1779=) c.3994C>T (p.Leu1332=) c.5221C>T (p.Leu1741=) c.4006C>T (p.Leu1336=) n.4276C>T c.5296C>T (p.Leu1766=) c.5209C>T (p.Leu1737=) c.3982C>T (p.Leu1328=) c.5323C>T (p.Leu1775=) c.5311C>T (p.Leu1771=) c.5275C>T (p.Leu1759=) c.5263C>T (p.Leu1755=) c.5236C>T (p.Leu1746=) c.4069C>T (p.Leu1357=) c.4057C>T (p.Leu1353=) c.4021C>T (p.Leu1341=) c.4042C>T (p.Leu1348=) c.2962C>T (p.Leu988=) c.5308C>T (p.Leu1770=) c.5281C>T (p.Leu1761=) c.5260C>T (p.Leu1754=) c.5248C>T (p.Leu1750=) c.4582C>T (p.Leu1528=) c.4054C>T (p.Leu1352=) c.5269C>T (p.Leu1757=) | |
19 | g.5210705G>C | CA403501943 | PTPRS | n.645C>G n.470C>G c.5335C>G (p.Leu1779Val) c.3994C>G (p.Leu1332Val) c.5221C>G (p.Leu1741Val) c.4006C>G (p.Leu1336Val) n.4276C>G c.5296C>G (p.Leu1766Val) c.5209C>G (p.Leu1737Val) c.3982C>G (p.Leu1328Val) c.5323C>G (p.Leu1775Val) c.5311C>G (p.Leu1771Val) c.5275C>G (p.Leu1759Val) c.5263C>G (p.Leu1755Val) c.5236C>G (p.Leu1746Val) c.4069C>G (p.Leu1357Val) c.4057C>G (p.Leu1353Val) c.4021C>G (p.Leu1341Val) c.4042C>G (p.Leu1348Val) c.2962C>G (p.Leu988Val) c.5308C>G (p.Leu1770Val) c.5281C>G (p.Leu1761Val) c.5260C>G (p.Leu1754Val) c.5248C>G (p.Leu1750Val) c.4582C>G (p.Leu1528Val) c.4054C>G (p.Leu1352Val) c.5269C>G (p.Leu1757Val) | |
19 | g.5210705G>T | CA403501945 | PTPRS | n.645C>A n.470C>A c.5335C>A (p.Leu1779Met) c.3994C>A (p.Leu1332Met) c.5221C>A (p.Leu1741Met) c.4006C>A (p.Leu1336Met) n.4276C>A c.5296C>A (p.Leu1766Met) c.5209C>A (p.Leu1737Met) c.3982C>A (p.Leu1328Met) c.5323C>A (p.Leu1775Met) c.5311C>A (p.Leu1771Met) c.5275C>A (p.Leu1759Met) c.5263C>A (p.Leu1755Met) c.5236C>A (p.Leu1746Met) c.4069C>A (p.Leu1357Met) c.4057C>A (p.Leu1353Met) c.4021C>A (p.Leu1341Met) c.4042C>A (p.Leu1348Met) c.2962C>A (p.Leu988Met) c.5308C>A (p.Leu1770Met) c.5281C>A (p.Leu1761Met) c.5260C>A (p.Leu1754Met) c.5248C>A (p.Leu1750Met) c.4582C>A (p.Leu1528Met) c.4054C>A (p.Leu1352Met) c.5269C>A (p.Leu1757Met) | |
19 | g.5210706C>A | CA403501947 | PTPRS | n.644G>T n.469G>T c.5334G>T (p.Met1778Ile) c.3993G>T (p.Met1331Ile) c.5220G>T (p.Met1740Ile) c.4005G>T (p.Met1335Ile) n.4275G>T c.5295G>T (p.Met1765Ile) c.5208G>T (p.Met1736Ile) c.3981G>T (p.Met1327Ile) c.5322G>T (p.Met1774Ile) c.5310G>T (p.Met1770Ile) c.5274G>T (p.Met1758Ile) c.5262G>T (p.Met1754Ile) c.5235G>T (p.Met1745Ile) c.4068G>T (p.Met1356Ile) c.4056G>T (p.Met1352Ile) c.4020G>T (p.Met1340Ile) c.4041G>T (p.Met1347Ile) c.2961G>T (p.Met987Ile) c.5307G>T (p.Met1769Ile) c.5280G>T (p.Met1760Ile) c.5259G>T (p.Met1753Ile) c.5247G>T (p.Met1749Ile) c.4581G>T (p.Met1527Ile) c.4053G>T (p.Met1351Ile) c.5268G>T (p.Met1756Ile) | |
19 | g.5210706C>G | CA403501949 | PTPRS | n.644G>C n.469G>C c.5334G>C (p.Met1778Ile) c.3993G>C (p.Met1331Ile) c.5220G>C (p.Met1740Ile) c.4005G>C (p.Met1335Ile) n.4275G>C c.5295G>C (p.Met1765Ile) c.5208G>C (p.Met1736Ile) c.3981G>C (p.Met1327Ile) c.5322G>C (p.Met1774Ile) c.5310G>C (p.Met1770Ile) c.5274G>C (p.Met1758Ile) c.5262G>C (p.Met1754Ile) c.5235G>C (p.Met1745Ile) c.4068G>C (p.Met1356Ile) c.4056G>C (p.Met1352Ile) c.4020G>C (p.Met1340Ile) c.4041G>C (p.Met1347Ile) c.2961G>C (p.Met987Ile) c.5307G>C (p.Met1769Ile) c.5280G>C (p.Met1760Ile) c.5259G>C (p.Met1753Ile) c.5247G>C (p.Met1749Ile) c.4581G>C (p.Met1527Ile) c.4053G>C (p.Met1351Ile) c.5268G>C (p.Met1756Ile) | |
19 | g.5210706C>T | CA403501951 | PTPRS | n.644G>A n.469G>A c.5334G>A (p.Met1778Ile) c.3993G>A (p.Met1331Ile) c.5220G>A (p.Met1740Ile) c.4005G>A (p.Met1335Ile) n.4275G>A c.5295G>A (p.Met1765Ile) c.5208G>A (p.Met1736Ile) c.3981G>A (p.Met1327Ile) c.5322G>A (p.Met1774Ile) c.5310G>A (p.Met1770Ile) c.5274G>A (p.Met1758Ile) c.5262G>A (p.Met1754Ile) c.5235G>A (p.Met1745Ile) c.4068G>A (p.Met1356Ile) c.4056G>A (p.Met1352Ile) c.4020G>A (p.Met1340Ile) c.4041G>A (p.Met1347Ile) c.2961G>A (p.Met987Ile) c.5307G>A (p.Met1769Ile) c.5280G>A (p.Met1760Ile) c.5259G>A (p.Met1753Ile) c.5247G>A (p.Met1749Ile) c.4581G>A (p.Met1527Ile) c.4053G>A (p.Met1351Ile) c.5268G>A (p.Met1756Ile) | |
19 | g.5210707A= | CA2319812200 | PTPRS | n.643T= n.468T= c.5333T= (p.Met1778=) c.3992T= (p.Met1331=) c.5219T= (p.Met1740=) c.4004T= (p.Met1335=) n.4274T= c.5294T= (p.Met1765=) c.5207T= (p.Met1736=) c.3980T= (p.Met1327=) c.5321T= (p.Met1774=) c.5309T= (p.Met1770=) c.5273T= (p.Met1758=) c.5261T= (p.Met1754=) c.5234T= (p.Met1745=) c.4067T= (p.Met1356=) c.4055T= (p.Met1352=) c.4019T= (p.Met1340=) c.4040T= (p.Met1347=) c.2960T= (p.Met987=) c.5306T= (p.Met1769=) c.5279T= (p.Met1760=) c.5258T= (p.Met1753=) c.5246T= (p.Met1749=) c.4580T= (p.Met1527=) c.4052T= (p.Met1351=) c.5267T= (p.Met1756=) | |
19 | g.5210707A>C | CA403501954 | PTPRS | n.643T>G n.468T>G c.5333T>G (p.Met1778Arg) c.3992T>G (p.Met1331Arg) c.5219T>G (p.Met1740Arg) c.4004T>G (p.Met1335Arg) n.4274T>G c.5294T>G (p.Met1765Arg) c.5207T>G (p.Met1736Arg) c.3980T>G (p.Met1327Arg) c.5321T>G (p.Met1774Arg) c.5309T>G (p.Met1770Arg) c.5273T>G (p.Met1758Arg) c.5261T>G (p.Met1754Arg) c.5234T>G (p.Met1745Arg) c.4067T>G (p.Met1356Arg) c.4055T>G (p.Met1352Arg) c.4019T>G (p.Met1340Arg) c.4040T>G (p.Met1347Arg) c.2960T>G (p.Met987Arg) c.5306T>G (p.Met1769Arg) c.5279T>G (p.Met1760Arg) c.5258T>G (p.Met1753Arg) c.5246T>G (p.Met1749Arg) c.4580T>G (p.Met1527Arg) c.4052T>G (p.Met1351Arg) c.5267T>G (p.Met1756Arg) | |
19 | g.5210707A>G | CA403501955 | PTPRS | n.643T>C n.468T>C c.5333T>C (p.Met1778Thr) c.3992T>C (p.Met1331Thr) c.5219T>C (p.Met1740Thr) c.4004T>C (p.Met1335Thr) n.4274T>C c.5294T>C (p.Met1765Thr) c.5207T>C (p.Met1736Thr) c.3980T>C (p.Met1327Thr) c.5321T>C (p.Met1774Thr) c.5309T>C (p.Met1770Thr) c.5273T>C (p.Met1758Thr) c.5261T>C (p.Met1754Thr) c.5234T>C (p.Met1745Thr) c.4067T>C (p.Met1356Thr) c.4055T>C (p.Met1352Thr) c.4019T>C (p.Met1340Thr) c.4040T>C (p.Met1347Thr) c.2960T>C (p.Met987Thr) c.5306T>C (p.Met1769Thr) c.5279T>C (p.Met1760Thr) c.5258T>C (p.Met1753Thr) c.5246T>C (p.Met1749Thr) c.4580T>C (p.Met1527Thr) c.4052T>C (p.Met1351Thr) c.5267T>C (p.Met1756Thr) | dbSNP |
19 | g.5210707A>T | CA403501957 | PTPRS | n.643T>A n.468T>A c.5333T>A (p.Met1778Lys) c.3992T>A (p.Met1331Lys) c.5219T>A (p.Met1740Lys) c.4004T>A (p.Met1335Lys) n.4274T>A c.5294T>A (p.Met1765Lys) c.5207T>A (p.Met1736Lys) c.3980T>A (p.Met1327Lys) c.5321T>A (p.Met1774Lys) c.5309T>A (p.Met1770Lys) c.5273T>A (p.Met1758Lys) c.5261T>A (p.Met1754Lys) c.5234T>A (p.Met1745Lys) c.4067T>A (p.Met1356Lys) c.4055T>A (p.Met1352Lys) c.4019T>A (p.Met1340Lys) c.4040T>A (p.Met1347Lys) c.2960T>A (p.Met987Lys) c.5306T>A (p.Met1769Lys) c.5279T>A (p.Met1760Lys) c.5258T>A (p.Met1753Lys) c.5246T>A (p.Met1749Lys) c.4580T>A (p.Met1527Lys) c.4052T>A (p.Met1351Lys) c.5267T>A (p.Met1756Lys) | |
19 | g.5210708T>A | CA403501963 | PTPRS | n.642A>T n.467A>T c.5332A>T (p.Met1778Leu) c.3991A>T (p.Met1331Leu) c.5218A>T (p.Met1740Leu) c.4003A>T (p.Met1335Leu) n.4273A>T c.5293A>T (p.Met1765Leu) c.5206A>T (p.Met1736Leu) c.3979A>T (p.Met1327Leu) c.5320A>T (p.Met1774Leu) c.5308A>T (p.Met1770Leu) c.5272A>T (p.Met1758Leu) c.5260A>T (p.Met1754Leu) c.5233A>T (p.Met1745Leu) c.4066A>T (p.Met1356Leu) c.4054A>T (p.Met1352Leu) c.4018A>T (p.Met1340Leu) c.4039A>T (p.Met1347Leu) c.2959A>T (p.Met987Leu) c.5305A>T (p.Met1769Leu) c.5278A>T (p.Met1760Leu) c.5257A>T (p.Met1753Leu) c.5245A>T (p.Met1749Leu) c.4579A>T (p.Met1527Leu) c.4051A>T (p.Met1351Leu) c.5266A>T (p.Met1756Leu) | |
19 | g.5210708T>C | CA403501961 | PTPRS | n.642A>G n.467A>G c.5332A>G (p.Met1778Val) c.3991A>G (p.Met1331Val) c.5218A>G (p.Met1740Val) c.4003A>G (p.Met1335Val) n.4273A>G c.5293A>G (p.Met1765Val) c.5206A>G (p.Met1736Val) c.3979A>G (p.Met1327Val) c.5320A>G (p.Met1774Val) c.5308A>G (p.Met1770Val) c.5272A>G (p.Met1758Val) c.5260A>G (p.Met1754Val) c.5233A>G (p.Met1745Val) c.4066A>G (p.Met1356Val) c.4054A>G (p.Met1352Val) c.4018A>G (p.Met1340Val) c.4039A>G (p.Met1347Val) c.2959A>G (p.Met987Val) c.5305A>G (p.Met1769Val) c.5278A>G (p.Met1760Val) c.5257A>G (p.Met1753Val) c.5245A>G (p.Met1749Val) c.4579A>G (p.Met1527Val) c.4051A>G (p.Met1351Val) c.5266A>G (p.Met1756Val) | gnomAD v4 |
19 | g.5210708T>G | CA403501960 | PTPRS | n.642A>C n.467A>C c.5332A>C (p.Met1778Leu) c.3991A>C (p.Met1331Leu) c.5218A>C (p.Met1740Leu) c.4003A>C (p.Met1335Leu) n.4273A>C c.5293A>C (p.Met1765Leu) c.5206A>C (p.Met1736Leu) c.3979A>C (p.Met1327Leu) c.5320A>C (p.Met1774Leu) c.5308A>C (p.Met1770Leu) c.5272A>C (p.Met1758Leu) c.5260A>C (p.Met1754Leu) c.5233A>C (p.Met1745Leu) c.4066A>C (p.Met1356Leu) c.4054A>C (p.Met1352Leu) c.4018A>C (p.Met1340Leu) c.4039A>C (p.Met1347Leu) c.2959A>C (p.Met987Leu) c.5305A>C (p.Met1769Leu) c.5278A>C (p.Met1760Leu) c.5257A>C (p.Met1753Leu) c.5245A>C (p.Met1749Leu) c.4579A>C (p.Met1527Leu) c.4051A>C (p.Met1351Leu) c.5266A>C (p.Met1756Leu) | |
19 | g.5210709C>A | CA505177049 | PTPRS | n.641G>T n.466G>T c.5331G>T (p.Val1777=) c.3990G>T (p.Val1330=) c.5217G>T (p.Val1739=) c.4002G>T (p.Val1334=) n.4272G>T c.5292G>T (p.Val1764=) c.5205G>T (p.Val1735=) c.3978G>T (p.Val1326=) c.5319G>T (p.Val1773=) c.5307G>T (p.Val1769=) c.5271G>T (p.Val1757=) c.5259G>T (p.Val1753=) c.5232G>T (p.Val1744=) c.4065G>T (p.Val1355=) c.4053G>T (p.Val1351=) c.4017G>T (p.Val1339=) c.4038G>T (p.Val1346=) c.2958G>T (p.Val986=) c.5304G>T (p.Val1768=) c.5277G>T (p.Val1759=) c.5256G>T (p.Val1752=) c.5244G>T (p.Val1748=) c.4578G>T (p.Val1526=) c.4050G>T (p.Val1350=) c.5265G>T (p.Val1755=) | |
19 | g.5210709C>G | CA505177050 | PTPRS | n.641G>C n.466G>C c.5331G>C (p.Val1777=) c.3990G>C (p.Val1330=) c.5217G>C (p.Val1739=) c.4002G>C (p.Val1334=) n.4272G>C c.5292G>C (p.Val1764=) c.5205G>C (p.Val1735=) c.3978G>C (p.Val1326=) c.5319G>C (p.Val1773=) c.5307G>C (p.Val1769=) c.5271G>C (p.Val1757=) c.5259G>C (p.Val1753=) c.5232G>C (p.Val1744=) c.4065G>C (p.Val1355=) c.4053G>C (p.Val1351=) c.4017G>C (p.Val1339=) c.4038G>C (p.Val1346=) c.2958G>C (p.Val986=) c.5304G>C (p.Val1768=) c.5277G>C (p.Val1759=) c.5256G>C (p.Val1752=) c.5244G>C (p.Val1748=) c.4578G>C (p.Val1526=) c.4050G>C (p.Val1350=) c.5265G>C (p.Val1755=) | |
19 | g.5210709C>T | CA505177051 | PTPRS | n.641G>A n.466G>A c.5331G>A (p.Val1777=) c.3990G>A (p.Val1330=) c.5217G>A (p.Val1739=) c.4002G>A (p.Val1334=) n.4272G>A c.5292G>A (p.Val1764=) c.5205G>A (p.Val1735=) c.3978G>A (p.Val1326=) c.5319G>A (p.Val1773=) c.5307G>A (p.Val1769=) c.5271G>A (p.Val1757=) c.5259G>A (p.Val1753=) c.5232G>A (p.Val1744=) c.4065G>A (p.Val1355=) c.4053G>A (p.Val1351=) c.4017G>A (p.Val1339=) c.4038G>A (p.Val1346=) c.2958G>A (p.Val986=) c.5304G>A (p.Val1768=) c.5277G>A (p.Val1759=) c.5256G>A (p.Val1752=) c.5244G>A (p.Val1748=) c.4578G>A (p.Val1526=) c.4050G>A (p.Val1350=) c.5265G>A (p.Val1755=) | gnomAD v4 |
19 | g.5210710A>C | CA403501965 | PTPRS | n.640T>G n.465T>G c.5330T>G (p.Val1777Gly) c.3989T>G (p.Val1330Gly) c.5216T>G (p.Val1739Gly) c.4001T>G (p.Val1334Gly) n.4271T>G c.5291T>G (p.Val1764Gly) c.5204T>G (p.Val1735Gly) c.3977T>G (p.Val1326Gly) c.5318T>G (p.Val1773Gly) c.5306T>G (p.Val1769Gly) c.5270T>G (p.Val1757Gly) c.5258T>G (p.Val1753Gly) c.5231T>G (p.Val1744Gly) c.4064T>G (p.Val1355Gly) c.4052T>G (p.Val1351Gly) c.4016T>G (p.Val1339Gly) c.4037T>G (p.Val1346Gly) c.2957T>G (p.Val986Gly) c.5303T>G (p.Val1768Gly) c.5276T>G (p.Val1759Gly) c.5255T>G (p.Val1752Gly) c.5243T>G (p.Val1748Gly) c.4577T>G (p.Val1526Gly) c.4049T>G (p.Val1350Gly) c.5264T>G (p.Val1755Gly) | |
19 | g.5210710A>G | CA403501967 | PTPRS | n.640T>C n.465T>C c.5330T>C (p.Val1777Ala) c.3989T>C (p.Val1330Ala) c.5216T>C (p.Val1739Ala) c.4001T>C (p.Val1334Ala) n.4271T>C c.5291T>C (p.Val1764Ala) c.5204T>C (p.Val1735Ala) c.3977T>C (p.Val1326Ala) c.5318T>C (p.Val1773Ala) c.5306T>C (p.Val1769Ala) c.5270T>C (p.Val1757Ala) c.5258T>C (p.Val1753Ala) c.5231T>C (p.Val1744Ala) c.4064T>C (p.Val1355Ala) c.4052T>C (p.Val1351Ala) c.4016T>C (p.Val1339Ala) c.4037T>C (p.Val1346Ala) c.2957T>C (p.Val986Ala) c.5303T>C (p.Val1768Ala) c.5276T>C (p.Val1759Ala) c.5255T>C (p.Val1752Ala) c.5243T>C (p.Val1748Ala) c.4577T>C (p.Val1526Ala) c.4049T>C (p.Val1350Ala) c.5264T>C (p.Val1755Ala) | |
19 | g.5210710A>T | CA403501969 | PTPRS | n.640T>A n.465T>A c.5330T>A (p.Val1777Glu) c.3989T>A (p.Val1330Glu) c.5216T>A (p.Val1739Glu) c.4001T>A (p.Val1334Glu) n.4271T>A c.5291T>A (p.Val1764Glu) c.5204T>A (p.Val1735Glu) c.3977T>A (p.Val1326Glu) c.5318T>A (p.Val1773Glu) c.5306T>A (p.Val1769Glu) c.5270T>A (p.Val1757Glu) c.5258T>A (p.Val1753Glu) c.5231T>A (p.Val1744Glu) c.4064T>A (p.Val1355Glu) c.4052T>A (p.Val1351Glu) c.4016T>A (p.Val1339Glu) c.4037T>A (p.Val1346Glu) c.2957T>A (p.Val986Glu) c.5303T>A (p.Val1768Glu) c.5276T>A (p.Val1759Glu) c.5255T>A (p.Val1752Glu) c.5243T>A (p.Val1748Glu) c.4577T>A (p.Val1526Glu) c.4049T>A (p.Val1350Glu) c.5264T>A (p.Val1755Glu) | |
19 | g.5210711C>A | CA403501970 | PTPRS | n.639G>T n.464G>T c.5329G>T (p.Val1777Leu) c.3988G>T (p.Val1330Leu) c.5215G>T (p.Val1739Leu) c.4000G>T (p.Val1334Leu) n.4270G>T c.5290G>T (p.Val1764Leu) c.5203G>T (p.Val1735Leu) c.3976G>T (p.Val1326Leu) c.5317G>T (p.Val1773Leu) c.5305G>T (p.Val1769Leu) c.5269G>T (p.Val1757Leu) c.5257G>T (p.Val1753Leu) c.5230G>T (p.Val1744Leu) c.4063G>T (p.Val1355Leu) c.4051G>T (p.Val1351Leu) c.4015G>T (p.Val1339Leu) c.4036G>T (p.Val1346Leu) c.2956G>T (p.Val986Leu) c.5302G>T (p.Val1768Leu) c.5275G>T (p.Val1759Leu) c.5254G>T (p.Val1752Leu) c.5242G>T (p.Val1748Leu) c.4576G>T (p.Val1526Leu) c.4048G>T (p.Val1350Leu) c.5263G>T (p.Val1755Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.5210711C= | CA2319812201 | PTPRS | n.639G= n.464G= c.5329G= (p.Val1777=) c.3988G= (p.Val1330=) c.5215G= (p.Val1739=) c.4000G= (p.Val1334=) n.4270G= c.5290G= (p.Val1764=) c.5203G= (p.Val1735=) c.3976G= (p.Val1326=) c.5317G= (p.Val1773=) c.5305G= (p.Val1769=) c.5269G= (p.Val1757=) c.5257G= (p.Val1753=) c.5230G= (p.Val1744=) c.4063G= (p.Val1355=) c.4051G= (p.Val1351=) c.4015G= (p.Val1339=) c.4036G= (p.Val1346=) c.2956G= (p.Val986=) c.5302G= (p.Val1768=) c.5275G= (p.Val1759=) c.5254G= (p.Val1752=) c.5242G= (p.Val1748=) c.4576G= (p.Val1526=) c.4048G= (p.Val1350=) c.5263G= (p.Val1755=) | |
19 | g.5210711C>G | CA403501972 | PTPRS | n.639G>C n.464G>C c.5329G>C (p.Val1777Leu) c.3988G>C (p.Val1330Leu) c.5215G>C (p.Val1739Leu) c.4000G>C (p.Val1334Leu) n.4270G>C c.5290G>C (p.Val1764Leu) c.5203G>C (p.Val1735Leu) c.3976G>C (p.Val1326Leu) c.5317G>C (p.Val1773Leu) c.5305G>C (p.Val1769Leu) c.5269G>C (p.Val1757Leu) c.5257G>C (p.Val1753Leu) c.5230G>C (p.Val1744Leu) c.4063G>C (p.Val1355Leu) c.4051G>C (p.Val1351Leu) c.4015G>C (p.Val1339Leu) c.4036G>C (p.Val1346Leu) c.2956G>C (p.Val986Leu) c.5302G>C (p.Val1768Leu) c.5275G>C (p.Val1759Leu) c.5254G>C (p.Val1752Leu) c.5242G>C (p.Val1748Leu) c.4576G>C (p.Val1526Leu) c.4048G>C (p.Val1350Leu) c.5263G>C (p.Val1755Leu) | |
19 | g.5210711C>T | CA403501974 | PTPRS | n.639G>A n.464G>A c.5329G>A (p.Val1777Met) c.3988G>A (p.Val1330Met) c.5215G>A (p.Val1739Met) c.4000G>A (p.Val1334Met) n.4270G>A c.5290G>A (p.Val1764Met) c.5203G>A (p.Val1735Met) c.3976G>A (p.Val1326Met) c.5317G>A (p.Val1773Met) c.5305G>A (p.Val1769Met) c.5269G>A (p.Val1757Met) c.5257G>A (p.Val1753Met) c.5230G>A (p.Val1744Met) c.4063G>A (p.Val1355Met) c.4051G>A (p.Val1351Met) c.4015G>A (p.Val1339Met) c.4036G>A (p.Val1346Met) c.2956G>A (p.Val986Met) c.5302G>A (p.Val1768Met) c.5275G>A (p.Val1759Met) c.5254G>A (p.Val1752Met) c.5242G>A (p.Val1748Met) c.4576G>A (p.Val1526Met) c.4048G>A (p.Val1350Met) c.5263G>A (p.Val1755Met) | |
19 | g.5210712C>A | CA505177052 | PTPRS | n.638G>T n.463G>T c.5328G>T (p.Val1776=) c.3987G>T (p.Val1329=) c.5214G>T (p.Val1738=) c.3999G>T (p.Val1333=) n.4269G>T c.5289G>T (p.Val1763=) c.5202G>T (p.Val1734=) c.3975G>T (p.Val1325=) c.5316G>T (p.Val1772=) c.5304G>T (p.Val1768=) c.5268G>T (p.Val1756=) c.5256G>T (p.Val1752=) c.5229G>T (p.Val1743=) c.4062G>T (p.Val1354=) c.4050G>T (p.Val1350=) c.4014G>T (p.Val1338=) c.4035G>T (p.Val1345=) c.2955G>T (p.Val985=) c.5301G>T (p.Val1767=) c.5274G>T (p.Val1758=) c.5253G>T (p.Val1751=) c.5241G>T (p.Val1747=) c.4575G>T (p.Val1525=) c.4047G>T (p.Val1349=) c.5262G>T (p.Val1754=) | |
19 | g.5210712C>G | CA505177053 | PTPRS | n.638G>C n.463G>C c.5328G>C (p.Val1776=) c.3987G>C (p.Val1329=) c.5214G>C (p.Val1738=) c.3999G>C (p.Val1333=) n.4269G>C c.5289G>C (p.Val1763=) c.5202G>C (p.Val1734=) c.3975G>C (p.Val1325=) c.5316G>C (p.Val1772=) c.5304G>C (p.Val1768=) c.5268G>C (p.Val1756=) c.5256G>C (p.Val1752=) c.5229G>C (p.Val1743=) c.4062G>C (p.Val1354=) c.4050G>C (p.Val1350=) c.4014G>C (p.Val1338=) c.4035G>C (p.Val1345=) c.2955G>C (p.Val985=) c.5301G>C (p.Val1767=) c.5274G>C (p.Val1758=) c.5253G>C (p.Val1751=) c.5241G>C (p.Val1747=) c.4575G>C (p.Val1525=) c.4047G>C (p.Val1349=) c.5262G>C (p.Val1754=) | |
19 | g.5210712C>T | CA505177054 | PTPRS | n.638G>A n.463G>A c.5328G>A (p.Val1776=) c.3987G>A (p.Val1329=) c.5214G>A (p.Val1738=) c.3999G>A (p.Val1333=) n.4269G>A c.5289G>A (p.Val1763=) c.5202G>A (p.Val1734=) c.3975G>A (p.Val1325=) c.5316G>A (p.Val1772=) c.5304G>A (p.Val1768=) c.5268G>A (p.Val1756=) c.5256G>A (p.Val1752=) c.5229G>A (p.Val1743=) c.4062G>A (p.Val1354=) c.4050G>A (p.Val1350=) c.4014G>A (p.Val1338=) c.4035G>A (p.Val1345=) c.2955G>A (p.Val985=) c.5301G>A (p.Val1767=) c.5274G>A (p.Val1758=) c.5253G>A (p.Val1751=) c.5241G>A (p.Val1747=) c.4575G>A (p.Val1525=) c.4047G>A (p.Val1349=) c.5262G>A (p.Val1754=) | |
19 | g.5210713A>C | CA403501982 | PTPRS | n.637T>G n.462T>G c.5327T>G (p.Val1776Gly) c.3986T>G (p.Val1329Gly) c.5213T>G (p.Val1738Gly) c.3998T>G (p.Val1333Gly) n.4268T>G c.5288T>G (p.Val1763Gly) c.5201T>G (p.Val1734Gly) c.3974T>G (p.Val1325Gly) c.5315T>G (p.Val1772Gly) c.5303T>G (p.Val1768Gly) c.5267T>G (p.Val1756Gly) c.5255T>G (p.Val1752Gly) c.5228T>G (p.Val1743Gly) c.4061T>G (p.Val1354Gly) c.4049T>G (p.Val1350Gly) c.4013T>G (p.Val1338Gly) c.4034T>G (p.Val1345Gly) c.2954T>G (p.Val985Gly) c.5300T>G (p.Val1767Gly) c.5273T>G (p.Val1758Gly) c.5252T>G (p.Val1751Gly) c.5240T>G (p.Val1747Gly) c.4574T>G (p.Val1525Gly) c.4046T>G (p.Val1349Gly) c.5261T>G (p.Val1754Gly) | |
19 | g.5210713A>G | CA403501976 | PTPRS | n.637T>C n.462T>C c.5327T>C (p.Val1776Ala) c.3986T>C (p.Val1329Ala) c.5213T>C (p.Val1738Ala) c.3998T>C (p.Val1333Ala) n.4268T>C c.5288T>C (p.Val1763Ala) c.5201T>C (p.Val1734Ala) c.3974T>C (p.Val1325Ala) c.5315T>C (p.Val1772Ala) c.5303T>C (p.Val1768Ala) c.5267T>C (p.Val1756Ala) c.5255T>C (p.Val1752Ala) c.5228T>C (p.Val1743Ala) c.4061T>C (p.Val1354Ala) c.4049T>C (p.Val1350Ala) c.4013T>C (p.Val1338Ala) c.4034T>C (p.Val1345Ala) c.2954T>C (p.Val985Ala) c.5300T>C (p.Val1767Ala) c.5273T>C (p.Val1758Ala) c.5252T>C (p.Val1751Ala) c.5240T>C (p.Val1747Ala) c.4574T>C (p.Val1525Ala) c.4046T>C (p.Val1349Ala) c.5261T>C (p.Val1754Ala) | |
19 | g.5210713A>T | CA403501978 | PTPRS | n.637T>A n.462T>A c.5327T>A (p.Val1776Glu) c.3986T>A (p.Val1329Glu) c.5213T>A (p.Val1738Glu) c.3998T>A (p.Val1333Glu) n.4268T>A c.5288T>A (p.Val1763Glu) c.5201T>A (p.Val1734Glu) c.3974T>A (p.Val1325Glu) c.5315T>A (p.Val1772Glu) c.5303T>A (p.Val1768Glu) c.5267T>A (p.Val1756Glu) c.5255T>A (p.Val1752Glu) c.5228T>A (p.Val1743Glu) c.4061T>A (p.Val1354Glu) c.4049T>A (p.Val1350Glu) c.4013T>A (p.Val1338Glu) c.4034T>A (p.Val1345Glu) c.2954T>A (p.Val985Glu) c.5300T>A (p.Val1767Glu) c.5273T>A (p.Val1758Glu) c.5252T>A (p.Val1751Glu) c.5240T>A (p.Val1747Glu) c.4574T>A (p.Val1525Glu) c.4046T>A (p.Val1349Glu) c.5261T>A (p.Val1754Glu) | |
19 | g.5210714C>A | CA403501985 | PTPRS | n.636G>T n.461G>T c.5326G>T (p.Val1776Leu) c.3985G>T (p.Val1329Leu) c.5212G>T (p.Val1738Leu) c.3997G>T (p.Val1333Leu) n.4267G>T c.5287G>T (p.Val1763Leu) c.5200G>T (p.Val1734Leu) c.3973G>T (p.Val1325Leu) c.5314G>T (p.Val1772Leu) c.5302G>T (p.Val1768Leu) c.5266G>T (p.Val1756Leu) c.5254G>T (p.Val1752Leu) c.5227G>T (p.Val1743Leu) c.4060G>T (p.Val1354Leu) c.4048G>T (p.Val1350Leu) c.4012G>T (p.Val1338Leu) c.4033G>T (p.Val1345Leu) c.2953G>T (p.Val985Leu) c.5299G>T (p.Val1767Leu) c.5272G>T (p.Val1758Leu) c.5251G>T (p.Val1751Leu) c.5239G>T (p.Val1747Leu) c.4573G>T (p.Val1525Leu) c.4045G>T (p.Val1349Leu) c.5260G>T (p.Val1754Leu) | dbSNP |
19 | g.5210714C= | CA2319812202 | PTPRS | n.636G= n.461G= c.5326G= (p.Val1776=) c.3985G= (p.Val1329=) c.5212G= (p.Val1738=) c.3997G= (p.Val1333=) n.4267G= c.5287G= (p.Val1763=) c.5200G= (p.Val1734=) c.3973G= (p.Val1325=) c.5314G= (p.Val1772=) c.5302G= (p.Val1768=) c.5266G= (p.Val1756=) c.5254G= (p.Val1752=) c.5227G= (p.Val1743=) c.4060G= (p.Val1354=) c.4048G= (p.Val1350=) c.4012G= (p.Val1338=) c.4033G= (p.Val1345=) c.2953G= (p.Val985=) c.5299G= (p.Val1767=) c.5272G= (p.Val1758=) c.5251G= (p.Val1751=) c.5239G= (p.Val1747=) c.4573G= (p.Val1525=) c.4045G= (p.Val1349=) c.5260G= (p.Val1754=) | |
19 | g.5210714C>G | CA403501986 | PTPRS | n.636G>C n.461G>C c.5326G>C (p.Val1776Leu) c.3985G>C (p.Val1329Leu) c.5212G>C (p.Val1738Leu) c.3997G>C (p.Val1333Leu) n.4267G>C c.5287G>C (p.Val1763Leu) c.5200G>C (p.Val1734Leu) c.3973G>C (p.Val1325Leu) c.5314G>C (p.Val1772Leu) c.5302G>C (p.Val1768Leu) c.5266G>C (p.Val1756Leu) c.5254G>C (p.Val1752Leu) c.5227G>C (p.Val1743Leu) c.4060G>C (p.Val1354Leu) c.4048G>C (p.Val1350Leu) c.4012G>C (p.Val1338Leu) c.4033G>C (p.Val1345Leu) c.2953G>C (p.Val985Leu) c.5299G>C (p.Val1767Leu) c.5272G>C (p.Val1758Leu) c.5251G>C (p.Val1751Leu) c.5239G>C (p.Val1747Leu) c.4573G>C (p.Val1525Leu) c.4045G>C (p.Val1349Leu) c.5260G>C (p.Val1754Leu) | |
19 | g.5210714C>T | CA9108768 | PTPRS | n.636G>A n.461G>A c.5326G>A (p.Val1776Met) c.3985G>A (p.Val1329Met) c.5212G>A (p.Val1738Met) c.3997G>A (p.Val1333Met) n.4267G>A c.5287G>A (p.Val1763Met) c.5200G>A (p.Val1734Met) c.3973G>A (p.Val1325Met) c.5314G>A (p.Val1772Met) c.5302G>A (p.Val1768Met) c.5266G>A (p.Val1756Met) c.5254G>A (p.Val1752Met) c.5227G>A (p.Val1743Met) c.4060G>A (p.Val1354Met) c.4048G>A (p.Val1350Met) c.4012G>A (p.Val1338Met) c.4033G>A (p.Val1345Met) c.2953G>A (p.Val985Met) c.5299G>A (p.Val1767Met) c.5272G>A (p.Val1758Met) c.5251G>A (p.Val1751Met) c.5239G>A (p.Val1747Met) c.4573G>A (p.Val1525Met) c.4045G>A (p.Val1349Met) c.5260G>A (p.Val1754Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.5210715G>A | CA9108769 | PTPRS | n.635C>T n.460C>T c.5325C>T (p.Ile1775=) c.3984C>T (p.Ile1328=) c.5211C>T (p.Ile1737=) c.3996C>T (p.Ile1332=) n.4266C>T c.5286C>T (p.Ile1762=) c.5199C>T (p.Ile1733=) c.3972C>T (p.Ile1324=) c.5313C>T (p.Ile1771=) c.5301C>T (p.Ile1767=) c.5265C>T (p.Ile1755=) c.5253C>T (p.Ile1751=) c.5226C>T (p.Ile1742=) c.4059C>T (p.Ile1353=) c.4047C>T (p.Ile1349=) c.4011C>T (p.Ile1337=) c.4032C>T (p.Ile1344=) c.2952C>T (p.Ile984=) c.5298C>T (p.Ile1766=) c.5271C>T (p.Ile1757=) c.5250C>T (p.Ile1750=) c.5238C>T (p.Ile1746=) c.4572C>T (p.Ile1524=) c.4044C>T (p.Ile1348=) c.5259C>T (p.Ile1753=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.5210715G>C | CA403501991 | PTPRS | n.635C>G n.460C>G c.5325C>G (p.Ile1775Met) c.3984C>G (p.Ile1328Met) c.5211C>G (p.Ile1737Met) c.3996C>G (p.Ile1332Met) n.4266C>G c.5286C>G (p.Ile1762Met) c.5199C>G (p.Ile1733Met) c.3972C>G (p.Ile1324Met) c.5313C>G (p.Ile1771Met) c.5301C>G (p.Ile1767Met) c.5265C>G (p.Ile1755Met) c.5253C>G (p.Ile1751Met) c.5226C>G (p.Ile1742Met) c.4059C>G (p.Ile1353Met) c.4047C>G (p.Ile1349Met) c.4011C>G (p.Ile1337Met) c.4032C>G (p.Ile1344Met) c.2952C>G (p.Ile984Met) c.5298C>G (p.Ile1766Met) c.5271C>G (p.Ile1757Met) c.5250C>G (p.Ile1750Met) c.5238C>G (p.Ile1746Met) c.4572C>G (p.Ile1524Met) c.4044C>G (p.Ile1348Met) c.5259C>G (p.Ile1753Met) | |
19 | g.5210715G= | CA2319812203 | PTPRS | n.635C= n.460C= c.5325C= (p.Ile1775=) c.3984C= (p.Ile1328=) c.5211C= (p.Ile1737=) c.3996C= (p.Ile1332=) n.4266C= c.5286C= (p.Ile1762=) c.5199C= (p.Ile1733=) c.3972C= (p.Ile1324=) c.5313C= (p.Ile1771=) c.5301C= (p.Ile1767=) c.5265C= (p.Ile1755=) c.5253C= (p.Ile1751=) c.5226C= (p.Ile1742=) c.4059C= (p.Ile1353=) c.4047C= (p.Ile1349=) c.4011C= (p.Ile1337=) c.4032C= (p.Ile1344=) c.2952C= (p.Ile984=) c.5298C= (p.Ile1766=) c.5271C= (p.Ile1757=) c.5250C= (p.Ile1750=) c.5238C= (p.Ile1746=) c.4572C= (p.Ile1524=) c.4044C= (p.Ile1348=) c.5259C= (p.Ile1753=) | |
19 | g.5210715G>T | CA304603404 | PTPRS | n.635C>A n.460C>A c.5325C>A (p.Ile1775=) c.3984C>A (p.Ile1328=) c.5211C>A (p.Ile1737=) c.3996C>A (p.Ile1332=) n.4266C>A c.5286C>A (p.Ile1762=) c.5199C>A (p.Ile1733=) c.3972C>A (p.Ile1324=) c.5313C>A (p.Ile1771=) c.5301C>A (p.Ile1767=) c.5265C>A (p.Ile1755=) c.5253C>A (p.Ile1751=) c.5226C>A (p.Ile1742=) c.4059C>A (p.Ile1353=) c.4047C>A (p.Ile1349=) c.4011C>A (p.Ile1337=) c.4032C>A (p.Ile1344=) c.2952C>A (p.Ile984=) c.5298C>A (p.Ile1766=) c.5271C>A (p.Ile1757=) c.5250C>A (p.Ile1750=) c.5238C>A (p.Ile1746=) c.4572C>A (p.Ile1524=) c.4044C>A (p.Ile1348=) c.5259C>A (p.Ile1753=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.5210716A>C | CA403501994 | PTPRS | n.634T>G n.459T>G c.5324T>G (p.Ile1775Ser) c.3983T>G (p.Ile1328Ser) c.5210T>G (p.Ile1737Ser) c.3995T>G (p.Ile1332Ser) n.4265T>G c.5285T>G (p.Ile1762Ser) c.5198T>G (p.Ile1733Ser) c.3971T>G (p.Ile1324Ser) c.5312T>G (p.Ile1771Ser) c.5300T>G (p.Ile1767Ser) c.5264T>G (p.Ile1755Ser) c.5252T>G (p.Ile1751Ser) c.5225T>G (p.Ile1742Ser) c.4058T>G (p.Ile1353Ser) c.4046T>G (p.Ile1349Ser) c.4010T>G (p.Ile1337Ser) c.4031T>G (p.Ile1344Ser) c.2951T>G (p.Ile984Ser) c.5297T>G (p.Ile1766Ser) c.5270T>G (p.Ile1757Ser) c.5249T>G (p.Ile1750Ser) c.5237T>G (p.Ile1746Ser) c.4571T>G (p.Ile1524Ser) c.4043T>G (p.Ile1348Ser) c.5258T>G (p.Ile1753Ser) | |
19 | g.5210716A>G | CA403501998 | PTPRS | n.634T>C n.459T>C c.5324T>C (p.Ile1775Thr) c.3983T>C (p.Ile1328Thr) c.5210T>C (p.Ile1737Thr) c.3995T>C (p.Ile1332Thr) n.4265T>C c.5285T>C (p.Ile1762Thr) c.5198T>C (p.Ile1733Thr) c.3971T>C (p.Ile1324Thr) c.5312T>C (p.Ile1771Thr) c.5300T>C (p.Ile1767Thr) c.5264T>C (p.Ile1755Thr) c.5252T>C (p.Ile1751Thr) c.5225T>C (p.Ile1742Thr) c.4058T>C (p.Ile1353Thr) c.4046T>C (p.Ile1349Thr) c.4010T>C (p.Ile1337Thr) c.4031T>C (p.Ile1344Thr) c.2951T>C (p.Ile984Thr) c.5297T>C (p.Ile1766Thr) c.5270T>C (p.Ile1757Thr) c.5249T>C (p.Ile1750Thr) c.5237T>C (p.Ile1746Thr) c.4571T>C (p.Ile1524Thr) c.4043T>C (p.Ile1348Thr) c.5258T>C (p.Ile1753Thr) | |
19 | g.5210716A>T | CA403501996 | PTPRS | n.634T>A n.459T>A c.5324T>A (p.Ile1775Asn) c.3983T>A (p.Ile1328Asn) c.5210T>A (p.Ile1737Asn) c.3995T>A (p.Ile1332Asn) n.4265T>A c.5285T>A (p.Ile1762Asn) c.5198T>A (p.Ile1733Asn) c.3971T>A (p.Ile1324Asn) c.5312T>A (p.Ile1771Asn) c.5300T>A (p.Ile1767Asn) c.5264T>A (p.Ile1755Asn) c.5252T>A (p.Ile1751Asn) c.5225T>A (p.Ile1742Asn) c.4058T>A (p.Ile1353Asn) c.4046T>A (p.Ile1349Asn) c.4010T>A (p.Ile1337Asn) c.4031T>A (p.Ile1344Asn) c.2951T>A (p.Ile984Asn) c.5297T>A (p.Ile1766Asn) c.5270T>A (p.Ile1757Asn) c.5249T>A (p.Ile1750Asn) c.5237T>A (p.Ile1746Asn) c.4571T>A (p.Ile1524Asn) c.4043T>A (p.Ile1348Asn) c.5258T>A (p.Ile1753Asn) | |
19 | g.5210717T>A | CA403501999 | PTPRS | n.633A>T n.458A>T c.5323A>T (p.Ile1775Phe) c.3982A>T (p.Ile1328Phe) c.5209A>T (p.Ile1737Phe) c.3994A>T (p.Ile1332Phe) n.4264A>T c.5284A>T (p.Ile1762Phe) c.5197A>T (p.Ile1733Phe) c.3970A>T (p.Ile1324Phe) c.5311A>T (p.Ile1771Phe) c.5299A>T (p.Ile1767Phe) c.5263A>T (p.Ile1755Phe) c.5251A>T (p.Ile1751Phe) c.5224A>T (p.Ile1742Phe) c.4057A>T (p.Ile1353Phe) c.4045A>T (p.Ile1349Phe) c.4009A>T (p.Ile1337Phe) c.4030A>T (p.Ile1344Phe) c.2950A>T (p.Ile984Phe) c.5296A>T (p.Ile1766Phe) c.5269A>T (p.Ile1757Phe) c.5248A>T (p.Ile1750Phe) c.5236A>T (p.Ile1746Phe) c.4570A>T (p.Ile1524Phe) c.4042A>T (p.Ile1348Phe) c.5257A>T (p.Ile1753Phe) | |
19 | g.5210717T>C | CA403502000 | PTPRS | n.633A>G n.458A>G c.5323A>G (p.Ile1775Val) c.3982A>G (p.Ile1328Val) c.5209A>G (p.Ile1737Val) c.3994A>G (p.Ile1332Val) n.4264A>G c.5284A>G (p.Ile1762Val) c.5197A>G (p.Ile1733Val) c.3970A>G (p.Ile1324Val) c.5311A>G (p.Ile1771Val) c.5299A>G (p.Ile1767Val) c.5263A>G (p.Ile1755Val) c.5251A>G (p.Ile1751Val) c.5224A>G (p.Ile1742Val) c.4057A>G (p.Ile1353Val) c.4045A>G (p.Ile1349Val) c.4009A>G (p.Ile1337Val) c.4030A>G (p.Ile1344Val) c.2950A>G (p.Ile984Val) c.5296A>G (p.Ile1766Val) c.5269A>G (p.Ile1757Val) c.5248A>G (p.Ile1750Val) c.5236A>G (p.Ile1746Val) c.4570A>G (p.Ile1524Val) c.4042A>G (p.Ile1348Val) c.5257A>G (p.Ile1753Val) | |
19 | g.5210717T>G | CA403502003 | PTPRS | n.633A>C n.458A>C c.5323A>C (p.Ile1775Leu) c.3982A>C (p.Ile1328Leu) c.5209A>C (p.Ile1737Leu) c.3994A>C (p.Ile1332Leu) n.4264A>C c.5284A>C (p.Ile1762Leu) c.5197A>C (p.Ile1733Leu) c.3970A>C (p.Ile1324Leu) c.5311A>C (p.Ile1771Leu) c.5299A>C (p.Ile1767Leu) c.5263A>C (p.Ile1755Leu) c.5251A>C (p.Ile1751Leu) c.5224A>C (p.Ile1742Leu) c.4057A>C (p.Ile1353Leu) c.4045A>C (p.Ile1349Leu) c.4009A>C (p.Ile1337Leu) c.4030A>C (p.Ile1344Leu) c.2950A>C (p.Ile984Leu) c.5296A>C (p.Ile1766Leu) c.5269A>C (p.Ile1757Leu) c.5248A>C (p.Ile1750Leu) c.5236A>C (p.Ile1746Leu) c.4570A>C (p.Ile1524Leu) c.4042A>C (p.Ile1348Leu) c.5257A>C (p.Ile1753Leu) | |
19 | g.5210718C>A | CA505177055 | PTPRS | n.632G>T n.457G>T c.5322G>T (p.Thr1774=) c.3981G>T (p.Thr1327=) c.5208G>T (p.Thr1736=) c.3993G>T (p.Thr1331=) n.4263G>T c.5283G>T (p.Thr1761=) c.5196G>T (p.Thr1732=) c.3969G>T (p.Thr1323=) c.5310G>T (p.Thr1770=) c.5298G>T (p.Thr1766=) c.5262G>T (p.Thr1754=) c.5250G>T (p.Thr1750=) c.5223G>T (p.Thr1741=) c.4056G>T (p.Thr1352=) c.4044G>T (p.Thr1348=) c.4008G>T (p.Thr1336=) c.4029G>T (p.Thr1343=) c.2949G>T (p.Thr983=) c.5295G>T (p.Thr1765=) c.5268G>T (p.Thr1756=) c.5247G>T (p.Thr1749=) c.5235G>T (p.Thr1745=) c.4569G>T (p.Thr1523=) c.4041G>T (p.Thr1347=) c.5256G>T (p.Thr1752=) | gnomAD v4 |
19 | g.5210718C= | CA2319812204 | PTPRS | n.632G= n.457G= c.5322G= (p.Thr1774=) c.3981G= (p.Thr1327=) c.5208G= (p.Thr1736=) c.3993G= (p.Thr1331=) n.4263G= c.5283G= (p.Thr1761=) c.5196G= (p.Thr1732=) c.3969G= (p.Thr1323=) c.5310G= (p.Thr1770=) c.5298G= (p.Thr1766=) c.5262G= (p.Thr1754=) c.5250G= (p.Thr1750=) c.5223G= (p.Thr1741=) c.4056G= (p.Thr1352=) c.4044G= (p.Thr1348=) c.4008G= (p.Thr1336=) c.4029G= (p.Thr1343=) c.2949G= (p.Thr983=) c.5295G= (p.Thr1765=) c.5268G= (p.Thr1756=) c.5247G= (p.Thr1749=) c.5235G= (p.Thr1745=) c.4569G= (p.Thr1523=) c.4041G= (p.Thr1347=) c.5256G= (p.Thr1752=) | |
19 | g.5210718C>G | CA9108771 | PTPRS | n.632G>C n.457G>C c.5322G>C (p.Thr1774=) c.3981G>C (p.Thr1327=) c.5208G>C (p.Thr1736=) c.3993G>C (p.Thr1331=) n.4263G>C c.5283G>C (p.Thr1761=) c.5196G>C (p.Thr1732=) c.3969G>C (p.Thr1323=) c.5310G>C (p.Thr1770=) c.5298G>C (p.Thr1766=) c.5262G>C (p.Thr1754=) c.5250G>C (p.Thr1750=) c.5223G>C (p.Thr1741=) c.4056G>C (p.Thr1352=) c.4044G>C (p.Thr1348=) c.4008G>C (p.Thr1336=) c.4029G>C (p.Thr1343=) c.2949G>C (p.Thr983=) c.5295G>C (p.Thr1765=) c.5268G>C (p.Thr1756=) c.5247G>C (p.Thr1749=) c.5235G>C (p.Thr1745=) c.4569G>C (p.Thr1523=) c.4041G>C (p.Thr1347=) c.5256G>C (p.Thr1752=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.5210718C>T | CA9108770 | PTPRS | n.632G>A n.457G>A c.5322G>A (p.Thr1774=) c.3981G>A (p.Thr1327=) c.5208G>A (p.Thr1736=) c.3993G>A (p.Thr1331=) n.4263G>A c.5283G>A (p.Thr1761=) c.5196G>A (p.Thr1732=) c.3969G>A (p.Thr1323=) c.5310G>A (p.Thr1770=) c.5298G>A (p.Thr1766=) c.5262G>A (p.Thr1754=) c.5250G>A (p.Thr1750=) c.5223G>A (p.Thr1741=) c.4056G>A (p.Thr1352=) c.4044G>A (p.Thr1348=) c.4008G>A (p.Thr1336=) c.4029G>A (p.Thr1343=) c.2949G>A (p.Thr983=) c.5295G>A (p.Thr1765=) c.5268G>A (p.Thr1756=) c.5247G>A (p.Thr1749=) c.5235G>A (p.Thr1745=) c.4569G>A (p.Thr1523=) c.4041G>A (p.Thr1347=) c.5256G>A (p.Thr1752=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.5210719G>A | CA9108773 | PTPRS | n.631C>T n.456C>T c.5321C>T (p.Thr1774Met) c.3980C>T (p.Thr1327Met) c.5207C>T (p.Thr1736Met) c.3992C>T (p.Thr1331Met) n.4262C>T c.5282C>T (p.Thr1761Met) c.5195C>T (p.Thr1732Met) c.3968C>T (p.Thr1323Met) c.5309C>T (p.Thr1770Met) c.5297C>T (p.Thr1766Met) c.5261C>T (p.Thr1754Met) c.5249C>T (p.Thr1750Met) c.5222C>T (p.Thr1741Met) c.4055C>T (p.Thr1352Met) c.4043C>T (p.Thr1348Met) c.4007C>T (p.Thr1336Met) c.4028C>T (p.Thr1343Met) c.2948C>T (p.Thr983Met) c.5294C>T (p.Thr1765Met) c.5267C>T (p.Thr1756Met) c.5246C>T (p.Thr1749Met) c.5234C>T (p.Thr1745Met) c.4568C>T (p.Thr1523Met) c.4040C>T (p.Thr1347Met) c.5255C>T (p.Thr1752Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.5210719G>C | CA403502007 | PTPRS | n.631C>G n.456C>G c.5321C>G (p.Thr1774Arg) c.3980C>G (p.Thr1327Arg) c.5207C>G (p.Thr1736Arg) c.3992C>G (p.Thr1331Arg) n.4262C>G c.5282C>G (p.Thr1761Arg) c.5195C>G (p.Thr1732Arg) c.3968C>G (p.Thr1323Arg) c.5309C>G (p.Thr1770Arg) c.5297C>G (p.Thr1766Arg) c.5261C>G (p.Thr1754Arg) c.5249C>G (p.Thr1750Arg) c.5222C>G (p.Thr1741Arg) c.4055C>G (p.Thr1352Arg) c.4043C>G (p.Thr1348Arg) c.4007C>G (p.Thr1336Arg) c.4028C>G (p.Thr1343Arg) c.2948C>G (p.Thr983Arg) c.5294C>G (p.Thr1765Arg) c.5267C>G (p.Thr1756Arg) c.5246C>G (p.Thr1749Arg) c.5234C>G (p.Thr1745Arg) c.4568C>G (p.Thr1523Arg) c.4040C>G (p.Thr1347Arg) c.5255C>G (p.Thr1752Arg) | |
19 | g.5210719G= | CA2319812205 | PTPRS | n.631C= n.456C= c.5321C= (p.Thr1774=) c.3980C= (p.Thr1327=) c.5207C= (p.Thr1736=) c.3992C= (p.Thr1331=) n.4262C= c.5282C= (p.Thr1761=) c.5195C= (p.Thr1732=) c.3968C= (p.Thr1323=) c.5309C= (p.Thr1770=) c.5297C= (p.Thr1766=) c.5261C= (p.Thr1754=) c.5249C= (p.Thr1750=) c.5222C= (p.Thr1741=) c.4055C= (p.Thr1352=) c.4043C= (p.Thr1348=) c.4007C= (p.Thr1336=) c.4028C= (p.Thr1343=) c.2948C= (p.Thr983=) c.5294C= (p.Thr1765=) c.5267C= (p.Thr1756=) c.5246C= (p.Thr1749=) c.5234C= (p.Thr1745=) c.4568C= (p.Thr1523=) c.4040C= (p.Thr1347=) c.5255C= (p.Thr1752=) | |
19 | g.5210719G>T | CA9108772 | PTPRS | n.631C>A n.456C>A c.5321C>A (p.Thr1774Lys) c.3980C>A (p.Thr1327Lys) c.5207C>A (p.Thr1736Lys) c.3992C>A (p.Thr1331Lys) n.4262C>A c.5282C>A (p.Thr1761Lys) c.5195C>A (p.Thr1732Lys) c.3968C>A (p.Thr1323Lys) c.5309C>A (p.Thr1770Lys) c.5297C>A (p.Thr1766Lys) c.5261C>A (p.Thr1754Lys) c.5249C>A (p.Thr1750Lys) c.5222C>A (p.Thr1741Lys) c.4055C>A (p.Thr1352Lys) c.4043C>A (p.Thr1348Lys) c.4007C>A (p.Thr1336Lys) c.4028C>A (p.Thr1343Lys) c.2948C>A (p.Thr983Lys) c.5294C>A (p.Thr1765Lys) c.5267C>A (p.Thr1756Lys) c.5246C>A (p.Thr1749Lys) c.5234C>A (p.Thr1745Lys) c.4568C>A (p.Thr1523Lys) c.4040C>A (p.Thr1347Lys) c.5255C>A (p.Thr1752Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.5210720T>A | CA403502008 | PTPRS | n.630A>T n.455A>T c.5320A>T (p.Thr1774Ser) c.3979A>T (p.Thr1327Ser) c.5206A>T (p.Thr1736Ser) c.3991A>T (p.Thr1331Ser) n.4261A>T c.5281A>T (p.Thr1761Ser) c.5194A>T (p.Thr1732Ser) c.3967A>T (p.Thr1323Ser) c.5308A>T (p.Thr1770Ser) c.5296A>T (p.Thr1766Ser) c.5260A>T (p.Thr1754Ser) c.5248A>T (p.Thr1750Ser) c.5221A>T (p.Thr1741Ser) c.4054A>T (p.Thr1352Ser) c.4042A>T (p.Thr1348Ser) c.4006A>T (p.Thr1336Ser) c.4027A>T (p.Thr1343Ser) c.2947A>T (p.Thr983Ser) c.5293A>T (p.Thr1765Ser) c.5266A>T (p.Thr1756Ser) c.5245A>T (p.Thr1749Ser) c.5233A>T (p.Thr1745Ser) c.4567A>T (p.Thr1523Ser) c.4039A>T (p.Thr1347Ser) c.5254A>T (p.Thr1752Ser) | |
19 | g.5210720T>C | CA403502009 | PTPRS | n.630A>G n.455A>G c.5320A>G (p.Thr1774Ala) c.3979A>G (p.Thr1327Ala) c.5206A>G (p.Thr1736Ala) c.3991A>G (p.Thr1331Ala) n.4261A>G c.5281A>G (p.Thr1761Ala) c.5194A>G (p.Thr1732Ala) c.3967A>G (p.Thr1323Ala) c.5308A>G (p.Thr1770Ala) c.5296A>G (p.Thr1766Ala) c.5260A>G (p.Thr1754Ala) c.5248A>G (p.Thr1750Ala) c.5221A>G (p.Thr1741Ala) c.4054A>G (p.Thr1352Ala) c.4042A>G (p.Thr1348Ala) c.4006A>G (p.Thr1336Ala) c.4027A>G (p.Thr1343Ala) c.2947A>G (p.Thr983Ala) c.5293A>G (p.Thr1765Ala) c.5266A>G (p.Thr1756Ala) c.5245A>G (p.Thr1749Ala) c.5233A>G (p.Thr1745Ala) c.4567A>G (p.Thr1523Ala) c.4039A>G (p.Thr1347Ala) c.5254A>G (p.Thr1752Ala) | |
19 | g.5210720T>G | CA403502010 | PTPRS | n.630A>C n.455A>C c.5320A>C (p.Thr1774Pro) c.3979A>C (p.Thr1327Pro) c.5206A>C (p.Thr1736Pro) c.3991A>C (p.Thr1331Pro) n.4261A>C c.5281A>C (p.Thr1761Pro) c.5194A>C (p.Thr1732Pro) c.3967A>C (p.Thr1323Pro) c.5308A>C (p.Thr1770Pro) c.5296A>C (p.Thr1766Pro) c.5260A>C (p.Thr1754Pro) c.5248A>C (p.Thr1750Pro) c.5221A>C (p.Thr1741Pro) c.4054A>C (p.Thr1352Pro) c.4042A>C (p.Thr1348Pro) c.4006A>C (p.Thr1336Pro) c.4027A>C (p.Thr1343Pro) c.2947A>C (p.Thr983Pro) c.5293A>C (p.Thr1765Pro) c.5266A>C (p.Thr1756Pro) c.5245A>C (p.Thr1749Pro) c.5233A>C (p.Thr1745Pro) c.4567A>C (p.Thr1523Pro) c.4039A>C (p.Thr1347Pro) c.5254A>C (p.Thr1752Pro) | |
19 | g.5210721C>A | CA505177056 | PTPRS | n.629G>T n.454G>T c.5319G>T (p.Ser1773=) c.3978G>T (p.Ser1326=) c.5205G>T (p.Ser1735=) c.3990G>T (p.Ser1330=) n.4260G>T c.5280G>T (p.Ser1760=) c.5193G>T (p.Ser1731=) c.3966G>T (p.Ser1322=) c.5307G>T (p.Ser1769=) c.5295G>T (p.Ser1765=) c.5259G>T (p.Ser1753=) c.5247G>T (p.Ser1749=) c.5220G>T (p.Ser1740=) c.4053G>T (p.Ser1351=) c.4041G>T (p.Ser1347=) c.4005G>T (p.Ser1335=) c.4026G>T (p.Ser1342=) c.2946G>T (p.Ser982=) c.5292G>T (p.Ser1764=) c.5265G>T (p.Ser1755=) c.5244G>T (p.Ser1748=) c.5232G>T (p.Ser1744=) c.4566G>T (p.Ser1522=) c.4038G>T (p.Ser1346=) c.5253G>T (p.Ser1751=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.5210721C= | CA2319812206 | PTPRS | n.629G= n.454G= c.5319G= (p.Ser1773=) c.3978G= (p.Ser1326=) c.5205G= (p.Ser1735=) c.3990G= (p.Ser1330=) n.4260G= c.5280G= (p.Ser1760=) c.5193G= (p.Ser1731=) c.3966G= (p.Ser1322=) c.5307G= (p.Ser1769=) c.5295G= (p.Ser1765=) c.5259G= (p.Ser1753=) c.5247G= (p.Ser1749=) c.5220G= (p.Ser1740=) c.4053G= (p.Ser1351=) c.4041G= (p.Ser1347=) c.4005G= (p.Ser1335=) c.4026G= (p.Ser1342=) c.2946G= (p.Ser982=) c.5292G= (p.Ser1764=) c.5265G= (p.Ser1755=) c.5244G= (p.Ser1748=) c.5232G= (p.Ser1744=) c.4566G= (p.Ser1522=) c.4038G= (p.Ser1346=) c.5253G= (p.Ser1751=) | |
19 | g.5210721C>G | CA505177057 | PTPRS | n.629G>C n.454G>C c.5319G>C (p.Ser1773=) c.3978G>C (p.Ser1326=) c.5205G>C (p.Ser1735=) c.3990G>C (p.Ser1330=) n.4260G>C c.5280G>C (p.Ser1760=) c.5193G>C (p.Ser1731=) c.3966G>C (p.Ser1322=) c.5307G>C (p.Ser1769=) c.5295G>C (p.Ser1765=) c.5259G>C (p.Ser1753=) c.5247G>C (p.Ser1749=) c.5220G>C (p.Ser1740=) c.4053G>C (p.Ser1351=) c.4041G>C (p.Ser1347=) c.4005G>C (p.Ser1335=) c.4026G>C (p.Ser1342=) c.2946G>C (p.Ser982=) c.5292G>C (p.Ser1764=) c.5265G>C (p.Ser1755=) c.5244G>C (p.Ser1748=) c.5232G>C (p.Ser1744=) c.4566G>C (p.Ser1522=) c.4038G>C (p.Ser1346=) c.5253G>C (p.Ser1751=) | |
19 | g.5210721C>T | CA505177058 | PTPRS | n.629G>A n.454G>A c.5319G>A (p.Ser1773=) c.3978G>A (p.Ser1326=) c.5205G>A (p.Ser1735=) c.3990G>A (p.Ser1330=) n.4260G>A c.5280G>A (p.Ser1760=) c.5193G>A (p.Ser1731=) c.3966G>A (p.Ser1322=) c.5307G>A (p.Ser1769=) c.5295G>A (p.Ser1765=) c.5259G>A (p.Ser1753=) c.5247G>A (p.Ser1749=) c.5220G>A (p.Ser1740=) c.4053G>A (p.Ser1351=) c.4041G>A (p.Ser1347=) c.4005G>A (p.Ser1335=) c.4026G>A (p.Ser1342=) c.2946G>A (p.Ser982=) c.5292G>A (p.Ser1764=) c.5265G>A (p.Ser1755=) c.5244G>A (p.Ser1748=) c.5232G>A (p.Ser1744=) c.4566G>A (p.Ser1522=) c.4038G>A (p.Ser1346=) c.5253G>A (p.Ser1751=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.5210722G>A | CA9108774 | PTPRS | n.628C>T n.453C>T c.5318C>T (p.Ser1773Leu) c.3977C>T (p.Ser1326Leu) c.5204C>T (p.Ser1735Leu) c.3989C>T (p.Ser1330Leu) n.4259C>T c.5279C>T (p.Ser1760Leu) c.5192C>T (p.Ser1731Leu) c.3965C>T (p.Ser1322Leu) c.5306C>T (p.Ser1769Leu) c.5294C>T (p.Ser1765Leu) c.5258C>T (p.Ser1753Leu) c.5246C>T (p.Ser1749Leu) c.5219C>T (p.Ser1740Leu) c.4052C>T (p.Ser1351Leu) c.4040C>T (p.Ser1347Leu) c.4004C>T (p.Ser1335Leu) c.4025C>T (p.Ser1342Leu) c.2945C>T (p.Ser982Leu) c.5291C>T (p.Ser1764Leu) c.5264C>T (p.Ser1755Leu) c.5243C>T (p.Ser1748Leu) c.5231C>T (p.Ser1744Leu) c.4565C>T (p.Ser1522Leu) c.4037C>T (p.Ser1346Leu) c.5252C>T (p.Ser1751Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.5210722G>C | CA403502015 | PTPRS | n.628C>G n.453C>G c.5318C>G (p.Ser1773Trp) c.3977C>G (p.Ser1326Trp) c.5204C>G (p.Ser1735Trp) c.3989C>G (p.Ser1330Trp) n.4259C>G c.5279C>G (p.Ser1760Trp) c.5192C>G (p.Ser1731Trp) c.3965C>G (p.Ser1322Trp) c.5306C>G (p.Ser1769Trp) c.5294C>G (p.Ser1765Trp) c.5258C>G (p.Ser1753Trp) c.5246C>G (p.Ser1749Trp) c.5219C>G (p.Ser1740Trp) c.4052C>G (p.Ser1351Trp) c.4040C>G (p.Ser1347Trp) c.4004C>G (p.Ser1335Trp) c.4025C>G (p.Ser1342Trp) c.2945C>G (p.Ser982Trp) c.5291C>G (p.Ser1764Trp) c.5264C>G (p.Ser1755Trp) c.5243C>G (p.Ser1748Trp) c.5231C>G (p.Ser1744Trp) c.4565C>G (p.Ser1522Trp) c.4037C>G (p.Ser1346Trp) c.5252C>G (p.Ser1751Trp) | |
19 | g.5210722G= | CA2319812207 | PTPRS | n.628C= n.453C= c.5318C= (p.Ser1773=) c.3977C= (p.Ser1326=) c.5204C= (p.Ser1735=) c.3989C= (p.Ser1330=) n.4259C= c.5279C= (p.Ser1760=) c.5192C= (p.Ser1731=) c.3965C= (p.Ser1322=) c.5306C= (p.Ser1769=) c.5294C= (p.Ser1765=) c.5258C= (p.Ser1753=) c.5246C= (p.Ser1749=) c.5219C= (p.Ser1740=) c.4052C= (p.Ser1351=) c.4040C= (p.Ser1347=) c.4004C= (p.Ser1335=) c.4025C= (p.Ser1342=) c.2945C= (p.Ser982=) c.5291C= (p.Ser1764=) c.5264C= (p.Ser1755=) c.5243C= (p.Ser1748=) c.5231C= (p.Ser1744=) c.4565C= (p.Ser1522=) c.4037C= (p.Ser1346=) c.5252C= (p.Ser1751=) | |
19 | g.5210722G>T | CA403502013 | PTPRS | n.628C>A n.453C>A c.5318C>A (p.Ser1773Ter) c.3977C>A (p.Ser1326Ter) c.5204C>A (p.Ser1735Ter) c.3989C>A (p.Ser1330Ter) n.4259C>A c.5279C>A (p.Ser1760Ter) c.5192C>A (p.Ser1731Ter) c.3965C>A (p.Ser1322Ter) c.5306C>A (p.Ser1769Ter) c.5294C>A (p.Ser1765Ter) c.5258C>A (p.Ser1753Ter) c.5246C>A (p.Ser1749Ter) c.5219C>A (p.Ser1740Ter) c.4052C>A (p.Ser1351Ter) c.4040C>A (p.Ser1347Ter) c.4004C>A (p.Ser1335Ter) c.4025C>A (p.Ser1342Ter) c.2945C>A (p.Ser982Ter) c.5291C>A (p.Ser1764Ter) c.5264C>A (p.Ser1755Ter) c.5243C>A (p.Ser1748Ter) c.5231C>A (p.Ser1744Ter) c.4565C>A (p.Ser1522Ter) c.4037C>A (p.Ser1346Ter) c.5252C>A (p.Ser1751Ter) | |
19 | g.5210723A>C | CA403502017 | PTPRS | n.627T>G n.452T>G c.5317T>G (p.Ser1773Ala) c.3976T>G (p.Ser1326Ala) c.5203T>G (p.Ser1735Ala) c.3988T>G (p.Ser1330Ala) n.4258T>G c.5278T>G (p.Ser1760Ala) c.5191T>G (p.Ser1731Ala) c.3964T>G (p.Ser1322Ala) c.5305T>G (p.Ser1769Ala) c.5293T>G (p.Ser1765Ala) c.5257T>G (p.Ser1753Ala) c.5245T>G (p.Ser1749Ala) c.5218T>G (p.Ser1740Ala) c.4051T>G (p.Ser1351Ala) c.4039T>G (p.Ser1347Ala) c.4003T>G (p.Ser1335Ala) c.4024T>G (p.Ser1342Ala) c.2944T>G (p.Ser982Ala) c.5290T>G (p.Ser1764Ala) c.5263T>G (p.Ser1755Ala) c.5242T>G (p.Ser1748Ala) c.5230T>G (p.Ser1744Ala) c.4564T>G (p.Ser1522Ala) c.4036T>G (p.Ser1346Ala) c.5251T>G (p.Ser1751Ala) | gnomAD v4 |
19 | g.5210723A>G | CA403502020 | PTPRS | n.627T>C n.452T>C c.5317T>C (p.Ser1773Pro) c.3976T>C (p.Ser1326Pro) c.5203T>C (p.Ser1735Pro) c.3988T>C (p.Ser1330Pro) n.4258T>C c.5278T>C (p.Ser1760Pro) c.5191T>C (p.Ser1731Pro) c.3964T>C (p.Ser1322Pro) c.5305T>C (p.Ser1769Pro) c.5293T>C (p.Ser1765Pro) c.5257T>C (p.Ser1753Pro) c.5245T>C (p.Ser1749Pro) c.5218T>C (p.Ser1740Pro) c.4051T>C (p.Ser1351Pro) c.4039T>C (p.Ser1347Pro) c.4003T>C (p.Ser1335Pro) c.4024T>C (p.Ser1342Pro) c.2944T>C (p.Ser982Pro) c.5290T>C (p.Ser1764Pro) c.5263T>C (p.Ser1755Pro) c.5242T>C (p.Ser1748Pro) c.5230T>C (p.Ser1744Pro) c.4564T>C (p.Ser1522Pro) c.4036T>C (p.Ser1346Pro) c.5251T>C (p.Ser1751Pro) | |
19 | g.5210723A>T | CA403502018 | PTPRS | n.627T>A n.452T>A c.5317T>A (p.Ser1773Thr) c.3976T>A (p.Ser1326Thr) c.5203T>A (p.Ser1735Thr) c.3988T>A (p.Ser1330Thr) n.4258T>A c.5278T>A (p.Ser1760Thr) c.5191T>A (p.Ser1731Thr) c.3964T>A (p.Ser1322Thr) c.5305T>A (p.Ser1769Thr) c.5293T>A (p.Ser1765Thr) c.5257T>A (p.Ser1753Thr) c.5245T>A (p.Ser1749Thr) c.5218T>A (p.Ser1740Thr) c.4051T>A (p.Ser1351Thr) c.4039T>A (p.Ser1347Thr) c.4003T>A (p.Ser1335Thr) c.4024T>A (p.Ser1342Thr) c.2944T>A (p.Ser982Thr) c.5290T>A (p.Ser1764Thr) c.5263T>A (p.Ser1755Thr) c.5242T>A (p.Ser1748Thr) c.5230T>A (p.Ser1744Thr) c.4564T>A (p.Ser1522Thr) c.4036T>A (p.Ser1346Thr) c.5251T>A (p.Ser1751Thr) | |
19 | g.5210724A>C | CA403502022 | PTPRS | n.626T>G n.451T>G c.5316T>G (p.Asn1772Lys) c.3975T>G (p.Asn1325Lys) c.5202T>G (p.Asn1734Lys) c.3987T>G (p.Asn1329Lys) n.4257T>G c.5277T>G (p.Asn1759Lys) c.5190T>G (p.Asn1730Lys) c.3963T>G (p.Asn1321Lys) c.5304T>G (p.Asn1768Lys) c.5292T>G (p.Asn1764Lys) c.5256T>G (p.Asn1752Lys) c.5244T>G (p.Asn1748Lys) c.5217T>G (p.Asn1739Lys) c.4050T>G (p.Asn1350Lys) c.4038T>G (p.Asn1346Lys) c.4002T>G (p.Asn1334Lys) c.4023T>G (p.Asn1341Lys) c.2943T>G (p.Asn981Lys) c.5289T>G (p.Asn1763Lys) c.5262T>G (p.Asn1754Lys) c.5241T>G (p.Asn1747Lys) c.5229T>G (p.Asn1743Lys) c.4563T>G (p.Asn1521Lys) c.4035T>G (p.Asn1345Lys) c.5250T>G (p.Asn1750Lys) | |
19 | g.5210724A>G | CA505177059 | PTPRS | n.626T>C n.451T>C c.5316T>C (p.Asn1772=) c.3975T>C (p.Asn1325=) c.5202T>C (p.Asn1734=) c.3987T>C (p.Asn1329=) n.4257T>C c.5277T>C (p.Asn1759=) c.5190T>C (p.Asn1730=) c.3963T>C (p.Asn1321=) c.5304T>C (p.Asn1768=) c.5292T>C (p.Asn1764=) c.5256T>C (p.Asn1752=) c.5244T>C (p.Asn1748=) c.5217T>C (p.Asn1739=) c.4050T>C (p.Asn1350=) c.4038T>C (p.Asn1346=) c.4002T>C (p.Asn1334=) c.4023T>C (p.Asn1341=) c.2943T>C (p.Asn981=) c.5289T>C (p.Asn1763=) c.5262T>C (p.Asn1754=) c.5241T>C (p.Asn1747=) c.5229T>C (p.Asn1743=) c.4563T>C (p.Asn1521=) c.4035T>C (p.Asn1345=) c.5250T>C (p.Asn1750=) | |
19 | g.5210724A>T | CA403502023 | PTPRS | n.626T>A n.451T>A c.5316T>A (p.Asn1772Lys) c.3975T>A (p.Asn1325Lys) c.5202T>A (p.Asn1734Lys) c.3987T>A (p.Asn1329Lys) n.4257T>A c.5277T>A (p.Asn1759Lys) c.5190T>A (p.Asn1730Lys) c.3963T>A (p.Asn1321Lys) c.5304T>A (p.Asn1768Lys) c.5292T>A (p.Asn1764Lys) c.5256T>A (p.Asn1752Lys) c.5244T>A (p.Asn1748Lys) c.5217T>A (p.Asn1739Lys) c.4050T>A (p.Asn1350Lys) c.4038T>A (p.Asn1346Lys) c.4002T>A (p.Asn1334Lys) c.4023T>A (p.Asn1341Lys) c.2943T>A (p.Asn981Lys) c.5289T>A (p.Asn1763Lys) c.5262T>A (p.Asn1754Lys) c.5241T>A (p.Asn1747Lys) c.5229T>A (p.Asn1743Lys) c.4563T>A (p.Asn1521Lys) c.4035T>A (p.Asn1345Lys) c.5250T>A (p.Asn1750Lys) | gnomAD v4 |
19 | g.5210725T>A | CA403502025 | PTPRS | n.625A>T n.450A>T c.5315A>T (p.Asn1772Ile) c.3974A>T (p.Asn1325Ile) c.5201A>T (p.Asn1734Ile) c.3986A>T (p.Asn1329Ile) n.4256A>T c.5276A>T (p.Asn1759Ile) c.5189A>T (p.Asn1730Ile) c.3962A>T (p.Asn1321Ile) c.5303A>T (p.Asn1768Ile) c.5291A>T (p.Asn1764Ile) c.5255A>T (p.Asn1752Ile) c.5243A>T (p.Asn1748Ile) c.5216A>T (p.Asn1739Ile) c.4049A>T (p.Asn1350Ile) c.4037A>T (p.Asn1346Ile) c.4001A>T (p.Asn1334Ile) c.4022A>T (p.Asn1341Ile) c.2942A>T (p.Asn981Ile) c.5288A>T (p.Asn1763Ile) c.5261A>T (p.Asn1754Ile) c.5240A>T (p.Asn1747Ile) c.5228A>T (p.Asn1743Ile) c.4562A>T (p.Asn1521Ile) c.4034A>T (p.Asn1345Ile) c.5249A>T (p.Asn1750Ile) | |
19 | g.5210725T>C | CA403502027 | PTPRS | n.625A>G n.450A>G c.5315A>G (p.Asn1772Ser) c.3974A>G (p.Asn1325Ser) c.5201A>G (p.Asn1734Ser) c.3986A>G (p.Asn1329Ser) n.4256A>G c.5276A>G (p.Asn1759Ser) c.5189A>G (p.Asn1730Ser) c.3962A>G (p.Asn1321Ser) c.5303A>G (p.Asn1768Ser) c.5291A>G (p.Asn1764Ser) c.5255A>G (p.Asn1752Ser) c.5243A>G (p.Asn1748Ser) c.5216A>G (p.Asn1739Ser) c.4049A>G (p.Asn1350Ser) c.4037A>G (p.Asn1346Ser) c.4001A>G (p.Asn1334Ser) c.4022A>G (p.Asn1341Ser) c.2942A>G (p.Asn981Ser) c.5288A>G (p.Asn1763Ser) c.5261A>G (p.Asn1754Ser) c.5240A>G (p.Asn1747Ser) c.5228A>G (p.Asn1743Ser) c.4562A>G (p.Asn1521Ser) c.4034A>G (p.Asn1345Ser) c.5249A>G (p.Asn1750Ser) | |
19 | g.5210725T>G | CA403502029 | PTPRS | n.625A>C n.450A>C c.5315A>C (p.Asn1772Thr) c.3974A>C (p.Asn1325Thr) c.5201A>C (p.Asn1734Thr) c.3986A>C (p.Asn1329Thr) n.4256A>C c.5276A>C (p.Asn1759Thr) c.5189A>C (p.Asn1730Thr) c.3962A>C (p.Asn1321Thr) c.5303A>C (p.Asn1768Thr) c.5291A>C (p.Asn1764Thr) c.5255A>C (p.Asn1752Thr) c.5243A>C (p.Asn1748Thr) c.5216A>C (p.Asn1739Thr) c.4049A>C (p.Asn1350Thr) c.4037A>C (p.Asn1346Thr) c.4001A>C (p.Asn1334Thr) c.4022A>C (p.Asn1341Thr) c.2942A>C (p.Asn981Thr) c.5288A>C (p.Asn1763Thr) c.5261A>C (p.Asn1754Thr) c.5240A>C (p.Asn1747Thr) c.5228A>C (p.Asn1743Thr) c.4562A>C (p.Asn1521Thr) c.4034A>C (p.Asn1345Thr) c.5249A>C (p.Asn1750Thr) | |
19 | g.5210726T>A | CA403502030 | PTPRS | n.624A>T n.449A>T c.5314A>T (p.Asn1772Tyr) c.3973A>T (p.Asn1325Tyr) c.5200A>T (p.Asn1734Tyr) c.3985A>T (p.Asn1329Tyr) n.4255A>T c.5275A>T (p.Asn1759Tyr) c.5188A>T (p.Asn1730Tyr) c.3961A>T (p.Asn1321Tyr) c.5302A>T (p.Asn1768Tyr) c.5290A>T (p.Asn1764Tyr) c.5254A>T (p.Asn1752Tyr) c.5242A>T (p.Asn1748Tyr) c.5215A>T (p.Asn1739Tyr) c.4048A>T (p.Asn1350Tyr) c.4036A>T (p.Asn1346Tyr) c.4000A>T (p.Asn1334Tyr) c.4021A>T (p.Asn1341Tyr) c.2941A>T (p.Asn981Tyr) c.5287A>T (p.Asn1763Tyr) c.5260A>T (p.Asn1754Tyr) c.5239A>T (p.Asn1747Tyr) c.5227A>T (p.Asn1743Tyr) c.4561A>T (p.Asn1521Tyr) c.4033A>T (p.Asn1345Tyr) c.5248A>T (p.Asn1750Tyr) | |
19 | g.5210726T>C | CA403502032 | PTPRS | n.624A>G n.449A>G c.5314A>G (p.Asn1772Asp) c.3973A>G (p.Asn1325Asp) c.5200A>G (p.Asn1734Asp) c.3985A>G (p.Asn1329Asp) n.4255A>G c.5275A>G (p.Asn1759Asp) c.5188A>G (p.Asn1730Asp) c.3961A>G (p.Asn1321Asp) c.5302A>G (p.Asn1768Asp) c.5290A>G (p.Asn1764Asp) c.5254A>G (p.Asn1752Asp) c.5242A>G (p.Asn1748Asp) c.5215A>G (p.Asn1739Asp) c.4048A>G (p.Asn1350Asp) c.4036A>G (p.Asn1346Asp) c.4000A>G (p.Asn1334Asp) c.4021A>G (p.Asn1341Asp) c.2941A>G (p.Asn981Asp) c.5287A>G (p.Asn1763Asp) c.5260A>G (p.Asn1754Asp) c.5239A>G (p.Asn1747Asp) c.5227A>G (p.Asn1743Asp) c.4561A>G (p.Asn1521Asp) c.4033A>G (p.Asn1345Asp) c.5248A>G (p.Asn1750Asp) | |
19 | g.5210726T>G | CA403502034 | PTPRS | n.624A>C n.449A>C c.5314A>C (p.Asn1772His) c.3973A>C (p.Asn1325His) c.5200A>C (p.Asn1734His) c.3985A>C (p.Asn1329His) n.4255A>C c.5275A>C (p.Asn1759His) c.5188A>C (p.Asn1730His) c.3961A>C (p.Asn1321His) c.5302A>C (p.Asn1768His) c.5290A>C (p.Asn1764His) c.5254A>C (p.Asn1752His) c.5242A>C (p.Asn1748His) c.5215A>C (p.Asn1739His) c.4048A>C (p.Asn1350His) c.4036A>C (p.Asn1346His) c.4000A>C (p.Asn1334His) c.4021A>C (p.Asn1341His) c.2941A>C (p.Asn981His) c.5287A>C (p.Asn1763His) c.5260A>C (p.Asn1754His) c.5239A>C (p.Asn1747His) c.5227A>C (p.Asn1743His) c.4561A>C (p.Asn1521His) c.4033A>C (p.Asn1345His) c.5248A>C (p.Asn1750His) | |
19 | g.5210727G>A | CA505177060 | PTPRS | n.623C>T n.448C>T c.5313C>T (p.Asn1771=) c.3972C>T (p.Asn1324=) c.5199C>T (p.Asn1733=) c.3984C>T (p.Asn1328=) n.4254C>T c.5274C>T (p.Asn1758=) c.5187C>T (p.Asn1729=) c.3960C>T (p.Asn1320=) c.5301C>T (p.Asn1767=) c.5289C>T (p.Asn1763=) c.5253C>T (p.Asn1751=) c.5241C>T (p.Asn1747=) c.5214C>T (p.Asn1738=) c.4047C>T (p.Asn1349=) c.4035C>T (p.Asn1345=) c.3999C>T (p.Asn1333=) c.4020C>T (p.Asn1340=) c.2940C>T (p.Asn980=) c.5286C>T (p.Asn1762=) c.5259C>T (p.Asn1753=) c.5238C>T (p.Asn1746=) c.5226C>T (p.Asn1742=) c.4560C>T (p.Asn1520=) c.4032C>T (p.Asn1344=) c.5247C>T (p.Asn1749=) | |
19 | g.5210727G>C | CA403502035 | PTPRS | n.623C>G n.448C>G c.5313C>G (p.Asn1771Lys) c.3972C>G (p.Asn1324Lys) c.5199C>G (p.Asn1733Lys) c.3984C>G (p.Asn1328Lys) n.4254C>G c.5274C>G (p.Asn1758Lys) c.5187C>G (p.Asn1729Lys) c.3960C>G (p.Asn1320Lys) c.5301C>G (p.Asn1767Lys) c.5289C>G (p.Asn1763Lys) c.5253C>G (p.Asn1751Lys) c.5241C>G (p.Asn1747Lys) c.5214C>G (p.Asn1738Lys) c.4047C>G (p.Asn1349Lys) c.4035C>G (p.Asn1345Lys) c.3999C>G (p.Asn1333Lys) c.4020C>G (p.Asn1340Lys) c.2940C>G (p.Asn980Lys) c.5286C>G (p.Asn1762Lys) c.5259C>G (p.Asn1753Lys) c.5238C>G (p.Asn1746Lys) c.5226C>G (p.Asn1742Lys) c.4560C>G (p.Asn1520Lys) c.4032C>G (p.Asn1344Lys) c.5247C>G (p.Asn1749Lys) | |
19 | g.5210727G>T | CA403502037 | PTPRS | n.623C>A n.448C>A c.5313C>A (p.Asn1771Lys) c.3972C>A (p.Asn1324Lys) c.5199C>A (p.Asn1733Lys) c.3984C>A (p.Asn1328Lys) n.4254C>A c.5274C>A (p.Asn1758Lys) c.5187C>A (p.Asn1729Lys) c.3960C>A (p.Asn1320Lys) c.5301C>A (p.Asn1767Lys) c.5289C>A (p.Asn1763Lys) c.5253C>A (p.Asn1751Lys) c.5241C>A (p.Asn1747Lys) c.5214C>A (p.Asn1738Lys) c.4047C>A (p.Asn1349Lys) c.4035C>A (p.Asn1345Lys) c.3999C>A (p.Asn1333Lys) c.4020C>A (p.Asn1340Lys) c.2940C>A (p.Asn980Lys) c.5286C>A (p.Asn1762Lys) c.5259C>A (p.Asn1753Lys) c.5238C>A (p.Asn1746Lys) c.5226C>A (p.Asn1742Lys) c.4560C>A (p.Asn1520Lys) c.4032C>A (p.Asn1344Lys) c.5247C>A (p.Asn1749Lys) | |
19 | g.5210728T>A | CA403502039 | PTPRS | n.622A>T n.447A>T c.5312A>T (p.Asn1771Ile) c.3971A>T (p.Asn1324Ile) c.5198A>T (p.Asn1733Ile) c.3983A>T (p.Asn1328Ile) n.4253A>T c.5273A>T (p.Asn1758Ile) c.5186A>T (p.Asn1729Ile) c.3959A>T (p.Asn1320Ile) c.5300A>T (p.Asn1767Ile) c.5288A>T (p.Asn1763Ile) c.5252A>T (p.Asn1751Ile) c.5240A>T (p.Asn1747Ile) c.5213A>T (p.Asn1738Ile) c.4046A>T (p.Asn1349Ile) c.4034A>T (p.Asn1345Ile) c.3998A>T (p.Asn1333Ile) c.4019A>T (p.Asn1340Ile) c.2939A>T (p.Asn980Ile) c.5285A>T (p.Asn1762Ile) c.5258A>T (p.Asn1753Ile) c.5237A>T (p.Asn1746Ile) c.5225A>T (p.Asn1742Ile) c.4559A>T (p.Asn1520Ile) c.4031A>T (p.Asn1344Ile) c.5246A>T (p.Asn1749Ile) | |
19 | g.5210728T>C | CA403502040 | PTPRS | n.622A>G n.447A>G c.5312A>G (p.Asn1771Ser) c.3971A>G (p.Asn1324Ser) c.5198A>G (p.Asn1733Ser) c.3983A>G (p.Asn1328Ser) n.4253A>G c.5273A>G (p.Asn1758Ser) c.5186A>G (p.Asn1729Ser) c.3959A>G (p.Asn1320Ser) c.5300A>G (p.Asn1767Ser) c.5288A>G (p.Asn1763Ser) c.5252A>G (p.Asn1751Ser) c.5240A>G (p.Asn1747Ser) c.5213A>G (p.Asn1738Ser) c.4046A>G (p.Asn1349Ser) c.4034A>G (p.Asn1345Ser) c.3998A>G (p.Asn1333Ser) c.4019A>G (p.Asn1340Ser) c.2939A>G (p.Asn980Ser) c.5285A>G (p.Asn1762Ser) c.5258A>G (p.Asn1753Ser) c.5237A>G (p.Asn1746Ser) c.5225A>G (p.Asn1742Ser) c.4559A>G (p.Asn1520Ser) c.4031A>G (p.Asn1344Ser) c.5246A>G (p.Asn1749Ser) | |
19 | g.5210728T>G | CA403502042 | PTPRS | n.622A>C n.447A>C c.5312A>C (p.Asn1771Thr) c.3971A>C (p.Asn1324Thr) c.5198A>C (p.Asn1733Thr) c.3983A>C (p.Asn1328Thr) n.4253A>C c.5273A>C (p.Asn1758Thr) c.5186A>C (p.Asn1729Thr) c.3959A>C (p.Asn1320Thr) c.5300A>C (p.Asn1767Thr) c.5288A>C (p.Asn1763Thr) c.5252A>C (p.Asn1751Thr) c.5240A>C (p.Asn1747Thr) c.5213A>C (p.Asn1738Thr) c.4046A>C (p.Asn1349Thr) c.4034A>C (p.Asn1345Thr) c.3998A>C (p.Asn1333Thr) c.4019A>C (p.Asn1340Thr) c.2939A>C (p.Asn980Thr) c.5285A>C (p.Asn1762Thr) c.5258A>C (p.Asn1753Thr) c.5237A>C (p.Asn1746Thr) c.5225A>C (p.Asn1742Thr) c.4559A>C (p.Asn1520Thr) c.4031A>C (p.Asn1344Thr) c.5246A>C (p.Asn1749Thr) | |
19 | g.5210729T>A | CA403502047 | PTPRS | n.621A>T n.446A>T c.5311A>T (p.Asn1771Tyr) c.3970A>T (p.Asn1324Tyr) c.5197A>T (p.Asn1733Tyr) c.3982A>T (p.Asn1328Tyr) n.4252A>T c.5272A>T (p.Asn1758Tyr) c.5185A>T (p.Asn1729Tyr) c.3958A>T (p.Asn1320Tyr) c.5299A>T (p.Asn1767Tyr) c.5287A>T (p.Asn1763Tyr) c.5251A>T (p.Asn1751Tyr) c.5239A>T (p.Asn1747Tyr) c.5212A>T (p.Asn1738Tyr) c.4045A>T (p.Asn1349Tyr) c.4033A>T (p.Asn1345Tyr) c.3997A>T (p.Asn1333Tyr) c.4018A>T (p.Asn1340Tyr) c.2938A>T (p.Asn980Tyr) c.5284A>T (p.Asn1762Tyr) c.5257A>T (p.Asn1753Tyr) c.5236A>T (p.Asn1746Tyr) c.5224A>T (p.Asn1742Tyr) c.4558A>T (p.Asn1520Tyr) c.4030A>T (p.Asn1344Tyr) c.5245A>T (p.Asn1749Tyr) | dbSNP |
19 | g.5210729T>C | CA403502043 | PTPRS | n.621A>G n.446A>G c.5311A>G (p.Asn1771Asp) c.3970A>G (p.Asn1324Asp) c.5197A>G (p.Asn1733Asp) c.3982A>G (p.Asn1328Asp) n.4252A>G c.5272A>G (p.Asn1758Asp) c.5185A>G (p.Asn1729Asp) c.3958A>G (p.Asn1320Asp) c.5299A>G (p.Asn1767Asp) c.5287A>G (p.Asn1763Asp) c.5251A>G (p.Asn1751Asp) c.5239A>G (p.Asn1747Asp) c.5212A>G (p.Asn1738Asp) c.4045A>G (p.Asn1349Asp) c.4033A>G (p.Asn1345Asp) c.3997A>G (p.Asn1333Asp) c.4018A>G (p.Asn1340Asp) c.2938A>G (p.Asn980Asp) c.5284A>G (p.Asn1762Asp) c.5257A>G (p.Asn1753Asp) c.5236A>G (p.Asn1746Asp) c.5224A>G (p.Asn1742Asp) c.4558A>G (p.Asn1520Asp) c.4030A>G (p.Asn1344Asp) c.5245A>G (p.Asn1749Asp) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.5210729T>G | CA403502045 | PTPRS | n.621A>C n.446A>C c.5311A>C (p.Asn1771His) c.3970A>C (p.Asn1324His) c.5197A>C (p.Asn1733His) c.3982A>C (p.Asn1328His) n.4252A>C c.5272A>C (p.Asn1758His) c.5185A>C (p.Asn1729His) c.3958A>C (p.Asn1320His) c.5299A>C (p.Asn1767His) c.5287A>C (p.Asn1763His) c.5251A>C (p.Asn1751His) c.5239A>C (p.Asn1747His) c.5212A>C (p.Asn1738His) c.4045A>C (p.Asn1349His) c.4033A>C (p.Asn1345His) c.3997A>C (p.Asn1333His) c.4018A>C (p.Asn1340His) c.2938A>C (p.Asn980His) c.5284A>C (p.Asn1762His) c.5257A>C (p.Asn1753His) c.5236A>C (p.Asn1746His) c.5224A>C (p.Asn1742His) c.4558A>C (p.Asn1520His) c.4030A>C (p.Asn1344His) c.5245A>C (p.Asn1749His) | |
19 | g.5210729T= | CA2319812208 | PTPRS | n.621A= n.446A= c.5311A= (p.Asn1771=) c.3970A= (p.Asn1324=) c.5197A= (p.Asn1733=) c.3982A= (p.Asn1328=) n.4252A= c.5272A= (p.Asn1758=) c.5185A= (p.Asn1729=) c.3958A= (p.Asn1320=) c.5299A= (p.Asn1767=) c.5287A= (p.Asn1763=) c.5251A= (p.Asn1751=) c.5239A= (p.Asn1747=) c.5212A= (p.Asn1738=) c.4045A= (p.Asn1349=) c.4033A= (p.Asn1345=) c.3997A= (p.Asn1333=) c.4018A= (p.Asn1340=) c.2938A= (p.Asn980=) c.5284A= (p.Asn1762=) c.5257A= (p.Asn1753=) c.5236A= (p.Asn1746=) c.5224A= (p.Asn1742=) c.4558A= (p.Asn1520=) c.4030A= (p.Asn1344=) c.5245A= (p.Asn1749=) | |
19 | g.5210730C>A | CA403502049 | PTPRS | n.620G>T n.445G>T c.5310G>T (p.Glu1770Asp) c.3969G>T (p.Glu1323Asp) c.5196G>T (p.Glu1732Asp) c.3981G>T (p.Glu1327Asp) n.4251G>T c.5271G>T (p.Glu1757Asp) c.5184G>T (p.Glu1728Asp) c.3957G>T (p.Glu1319Asp) c.5298G>T (p.Glu1766Asp) c.5286G>T (p.Glu1762Asp) c.5250G>T (p.Glu1750Asp) c.5238G>T (p.Glu1746Asp) c.5211G>T (p.Glu1737Asp) c.4044G>T (p.Glu1348Asp) c.4032G>T (p.Glu1344Asp) c.3996G>T (p.Glu1332Asp) c.4017G>T (p.Glu1339Asp) c.2937G>T (p.Glu979Asp) c.5283G>T (p.Glu1761Asp) c.5256G>T (p.Glu1752Asp) c.5235G>T (p.Glu1745Asp) c.5223G>T (p.Glu1741Asp) c.4557G>T (p.Glu1519Asp) c.4029G>T (p.Glu1343Asp) c.5244G>T (p.Glu1748Asp) | |
19 | g.5210730C>G | CA403502050 | PTPRS | n.620G>C n.445G>C c.5310G>C (p.Glu1770Asp) c.3969G>C (p.Glu1323Asp) c.5196G>C (p.Glu1732Asp) c.3981G>C (p.Glu1327Asp) n.4251G>C c.5271G>C (p.Glu1757Asp) c.5184G>C (p.Glu1728Asp) c.3957G>C (p.Glu1319Asp) c.5298G>C (p.Glu1766Asp) c.5286G>C (p.Glu1762Asp) c.5250G>C (p.Glu1750Asp) c.5238G>C (p.Glu1746Asp) c.5211G>C (p.Glu1737Asp) c.4044G>C (p.Glu1348Asp) c.4032G>C (p.Glu1344Asp) c.3996G>C (p.Glu1332Asp) c.4017G>C (p.Glu1339Asp) c.2937G>C (p.Glu979Asp) c.5283G>C (p.Glu1761Asp) c.5256G>C (p.Glu1752Asp) c.5235G>C (p.Glu1745Asp) c.5223G>C (p.Glu1741Asp) c.4557G>C (p.Glu1519Asp) c.4029G>C (p.Glu1343Asp) c.5244G>C (p.Glu1748Asp) | |
19 | g.5210730C>T | CA505177061 | PTPRS | n.620G>A n.445G>A c.5310G>A (p.Glu1770=) c.3969G>A (p.Glu1323=) c.5196G>A (p.Glu1732=) c.3981G>A (p.Glu1327=) n.4251G>A c.5271G>A (p.Glu1757=) c.5184G>A (p.Glu1728=) c.3957G>A (p.Glu1319=) c.5298G>A (p.Glu1766=) c.5286G>A (p.Glu1762=) c.5250G>A (p.Glu1750=) c.5238G>A (p.Glu1746=) c.5211G>A (p.Glu1737=) c.4044G>A (p.Glu1348=) c.4032G>A (p.Glu1344=) c.3996G>A (p.Glu1332=) c.4017G>A (p.Glu1339=) c.2937G>A (p.Glu979=) c.5283G>A (p.Glu1761=) c.5256G>A (p.Glu1752=) c.5235G>A (p.Glu1745=) c.5223G>A (p.Glu1741=) c.4557G>A (p.Glu1519=) c.4029G>A (p.Glu1343=) c.5244G>A (p.Glu1748=) | |
19 | g.5210731T>A | CA403502052 | PTPRS | n.619A>T n.444A>T c.5309A>T (p.Glu1770Val) c.3968A>T (p.Glu1323Val) c.5195A>T (p.Glu1732Val) c.3980A>T (p.Glu1327Val) n.4250A>T c.5270A>T (p.Glu1757Val) c.5183A>T (p.Glu1728Val) c.3956A>T (p.Glu1319Val) c.5297A>T (p.Glu1766Val) c.5285A>T (p.Glu1762Val) c.5249A>T (p.Glu1750Val) c.5237A>T (p.Glu1746Val) c.5210A>T (p.Glu1737Val) c.4043A>T (p.Glu1348Val) c.4031A>T (p.Glu1344Val) c.3995A>T (p.Glu1332Val) c.4016A>T (p.Glu1339Val) c.2936A>T (p.Glu979Val) c.5282A>T (p.Glu1761Val) c.5255A>T (p.Glu1752Val) c.5234A>T (p.Glu1745Val) c.5222A>T (p.Glu1741Val) c.4556A>T (p.Glu1519Val) c.4028A>T (p.Glu1343Val) c.5243A>T (p.Glu1748Val) | |
19 | g.5210731T>C | CA403502054 | PTPRS | n.619A>G n.444A>G c.5309A>G (p.Glu1770Gly) c.3968A>G (p.Glu1323Gly) c.5195A>G (p.Glu1732Gly) c.3980A>G (p.Glu1327Gly) n.4250A>G c.5270A>G (p.Glu1757Gly) c.5183A>G (p.Glu1728Gly) c.3956A>G (p.Glu1319Gly) c.5297A>G (p.Glu1766Gly) c.5285A>G (p.Glu1762Gly) c.5249A>G (p.Glu1750Gly) c.5237A>G (p.Glu1746Gly) c.5210A>G (p.Glu1737Gly) c.4043A>G (p.Glu1348Gly) c.4031A>G (p.Glu1344Gly) c.3995A>G (p.Glu1332Gly) c.4016A>G (p.Glu1339Gly) c.2936A>G (p.Glu979Gly) c.5282A>G (p.Glu1761Gly) c.5255A>G (p.Glu1752Gly) c.5234A>G (p.Glu1745Gly) c.5222A>G (p.Glu1741Gly) c.4556A>G (p.Glu1519Gly) c.4028A>G (p.Glu1343Gly) c.5243A>G (p.Glu1748Gly) | gnomAD v4 |
19 | g.5210731T>G | CA403502056 | PTPRS | n.619A>C n.444A>C c.5309A>C (p.Glu1770Ala) c.3968A>C (p.Glu1323Ala) c.5195A>C (p.Glu1732Ala) c.3980A>C (p.Glu1327Ala) n.4250A>C c.5270A>C (p.Glu1757Ala) c.5183A>C (p.Glu1728Ala) c.3956A>C (p.Glu1319Ala) c.5297A>C (p.Glu1766Ala) c.5285A>C (p.Glu1762Ala) c.5249A>C (p.Glu1750Ala) c.5237A>C (p.Glu1746Ala) c.5210A>C (p.Glu1737Ala) c.4043A>C (p.Glu1348Ala) c.4031A>C (p.Glu1344Ala) c.3995A>C (p.Glu1332Ala) c.4016A>C (p.Glu1339Ala) c.2936A>C (p.Glu979Ala) c.5282A>C (p.Glu1761Ala) c.5255A>C (p.Glu1752Ala) c.5234A>C (p.Glu1745Ala) c.5222A>C (p.Glu1741Ala) c.4556A>C (p.Glu1519Ala) c.4028A>C (p.Glu1343Ala) c.5243A>C (p.Glu1748Ala) | |
19 | g.5210732C>A | CA403502057 | PTPRS | n.618G>T n.443G>T c.5308G>T (p.Glu1770Ter) c.3967G>T (p.Glu1323Ter) c.5194G>T (p.Glu1732Ter) c.3979G>T (p.Glu1327Ter) n.4249G>T c.5269G>T (p.Glu1757Ter) c.5182G>T (p.Glu1728Ter) c.3955G>T (p.Glu1319Ter) c.5296G>T (p.Glu1766Ter) c.5284G>T (p.Glu1762Ter) c.5248G>T (p.Glu1750Ter) c.5236G>T (p.Glu1746Ter) c.5209G>T (p.Glu1737Ter) c.4042G>T (p.Glu1348Ter) c.4030G>T (p.Glu1344Ter) c.3994G>T (p.Glu1332Ter) c.4015G>T (p.Glu1339Ter) c.2935G>T (p.Glu979Ter) c.5281G>T (p.Glu1761Ter) c.5254G>T (p.Glu1752Ter) c.5233G>T (p.Glu1745Ter) c.5221G>T (p.Glu1741Ter) c.4555G>T (p.Glu1519Ter) c.4027G>T (p.Glu1343Ter) c.5242G>T (p.Glu1748Ter) | |
19 | g.5210732C>G | CA403502059 | PTPRS | n.618G>C n.443G>C c.5308G>C (p.Glu1770Gln) c.3967G>C (p.Glu1323Gln) c.5194G>C (p.Glu1732Gln) c.3979G>C (p.Glu1327Gln) n.4249G>C c.5269G>C (p.Glu1757Gln) c.5182G>C (p.Glu1728Gln) c.3955G>C (p.Glu1319Gln) c.5296G>C (p.Glu1766Gln) c.5284G>C (p.Glu1762Gln) c.5248G>C (p.Glu1750Gln) c.5236G>C (p.Glu1746Gln) c.5209G>C (p.Glu1737Gln) c.4042G>C (p.Glu1348Gln) c.4030G>C (p.Glu1344Gln) c.3994G>C (p.Glu1332Gln) c.4015G>C (p.Glu1339Gln) c.2935G>C (p.Glu979Gln) c.5281G>C (p.Glu1761Gln) c.5254G>C (p.Glu1752Gln) c.5233G>C (p.Glu1745Gln) c.5221G>C (p.Glu1741Gln) c.4555G>C (p.Glu1519Gln) c.4027G>C (p.Glu1343Gln) c.5242G>C (p.Glu1748Gln) | |
19 | g.5210732C>T | CA403502060 | PTPRS | n.618G>A n.443G>A c.5308G>A (p.Glu1770Lys) c.3967G>A (p.Glu1323Lys) c.5194G>A (p.Glu1732Lys) c.3979G>A (p.Glu1327Lys) n.4249G>A c.5269G>A (p.Glu1757Lys) c.5182G>A (p.Glu1728Lys) c.3955G>A (p.Glu1319Lys) c.5296G>A (p.Glu1766Lys) c.5284G>A (p.Glu1762Lys) c.5248G>A (p.Glu1750Lys) c.5236G>A (p.Glu1746Lys) c.5209G>A (p.Glu1737Lys) c.4042G>A (p.Glu1348Lys) c.4030G>A (p.Glu1344Lys) c.3994G>A (p.Glu1332Lys) c.4015G>A (p.Glu1339Lys) c.2935G>A (p.Glu979Lys) c.5281G>A (p.Glu1761Lys) c.5254G>A (p.Glu1752Lys) c.5233G>A (p.Glu1745Lys) c.5221G>A (p.Glu1741Lys) c.4555G>A (p.Glu1519Lys) c.4027G>A (p.Glu1343Lys) c.5242G>A (p.Glu1748Lys) | COSMIC COSMIC |
19 | g.5210733C>A | CA403502062 | PTPRS | n.617G>T n.442G>T c.5307G>T (p.Trp1769Cys) c.3966G>T (p.Trp1322Cys) c.5193G>T (p.Trp1731Cys) c.3978G>T (p.Trp1326Cys) n.4248G>T c.5268G>T (p.Trp1756Cys) c.5181G>T (p.Trp1727Cys) c.3954G>T (p.Trp1318Cys) c.5295G>T (p.Trp1765Cys) c.5283G>T (p.Trp1761Cys) c.5247G>T (p.Trp1749Cys) c.5235G>T (p.Trp1745Cys) c.5208G>T (p.Trp1736Cys) c.4041G>T (p.Trp1347Cys) c.4029G>T (p.Trp1343Cys) c.3993G>T (p.Trp1331Cys) c.4014G>T (p.Trp1338Cys) c.2934G>T (p.Trp978Cys) c.5280G>T (p.Trp1760Cys) c.5253G>T (p.Trp1751Cys) c.5232G>T (p.Trp1744Cys) c.5220G>T (p.Trp1740Cys) c.4554G>T (p.Trp1518Cys) c.4026G>T (p.Trp1342Cys) c.5241G>T (p.Trp1747Cys) | |
19 | g.5210733C>G | CA403502063 | PTPRS | n.617G>C n.442G>C c.5307G>C (p.Trp1769Cys) c.3966G>C (p.Trp1322Cys) c.5193G>C (p.Trp1731Cys) c.3978G>C (p.Trp1326Cys) n.4248G>C c.5268G>C (p.Trp1756Cys) c.5181G>C (p.Trp1727Cys) c.3954G>C (p.Trp1318Cys) c.5295G>C (p.Trp1765Cys) c.5283G>C (p.Trp1761Cys) c.5247G>C (p.Trp1749Cys) c.5235G>C (p.Trp1745Cys) c.5208G>C (p.Trp1736Cys) c.4041G>C (p.Trp1347Cys) c.4029G>C (p.Trp1343Cys) c.3993G>C (p.Trp1331Cys) c.4014G>C (p.Trp1338Cys) c.2934G>C (p.Trp978Cys) c.5280G>C (p.Trp1760Cys) c.5253G>C (p.Trp1751Cys) c.5232G>C (p.Trp1744Cys) c.5220G>C (p.Trp1740Cys) c.4554G>C (p.Trp1518Cys) c.4026G>C (p.Trp1342Cys) c.5241G>C (p.Trp1747Cys) | |
19 | g.5210733C>T | CA403502064 | PTPRS | n.617G>A n.442G>A c.5307G>A (p.Trp1769Ter) c.3966G>A (p.Trp1322Ter) c.5193G>A (p.Trp1731Ter) c.3978G>A (p.Trp1326Ter) n.4248G>A c.5268G>A (p.Trp1756Ter) c.5181G>A (p.Trp1727Ter) c.3954G>A (p.Trp1318Ter) c.5295G>A (p.Trp1765Ter) c.5283G>A (p.Trp1761Ter) c.5247G>A (p.Trp1749Ter) c.5235G>A (p.Trp1745Ter) c.5208G>A (p.Trp1736Ter) c.4041G>A (p.Trp1347Ter) c.4029G>A (p.Trp1343Ter) c.3993G>A (p.Trp1331Ter) c.4014G>A (p.Trp1338Ter) c.2934G>A (p.Trp978Ter) c.5280G>A (p.Trp1760Ter) c.5253G>A (p.Trp1751Ter) c.5232G>A (p.Trp1744Ter) c.5220G>A (p.Trp1740Ter) c.4554G>A (p.Trp1518Ter) c.4026G>A (p.Trp1342Ter) c.5241G>A (p.Trp1747Ter) | |
19 | g.5210734C>A | CA403502068 | PTPRS | n.616G>T n.441G>T c.5306G>T (p.Trp1769Leu) c.3965G>T (p.Trp1322Leu) c.5192G>T (p.Trp1731Leu) c.3977G>T (p.Trp1326Leu) n.4247G>T c.5267G>T (p.Trp1756Leu) c.5180G>T (p.Trp1727Leu) c.3953G>T (p.Trp1318Leu) c.5294G>T (p.Trp1765Leu) c.5282G>T (p.Trp1761Leu) c.5246G>T (p.Trp1749Leu) c.5234G>T (p.Trp1745Leu) c.5207G>T (p.Trp1736Leu) c.4040G>T (p.Trp1347Leu) c.4028G>T (p.Trp1343Leu) c.3992G>T (p.Trp1331Leu) c.4013G>T (p.Trp1338Leu) c.2933G>T (p.Trp978Leu) c.5279G>T (p.Trp1760Leu) c.5252G>T (p.Trp1751Leu) c.5231G>T (p.Trp1744Leu) c.5219G>T (p.Trp1740Leu) c.4553G>T (p.Trp1518Leu) c.4025G>T (p.Trp1342Leu) c.5240G>T (p.Trp1747Leu) | |
19 | g.5210734C>G | CA403502070 | PTPRS | n.616G>C n.441G>C c.5306G>C (p.Trp1769Ser) c.3965G>C (p.Trp1322Ser) c.5192G>C (p.Trp1731Ser) c.3977G>C (p.Trp1326Ser) n.4247G>C c.5267G>C (p.Trp1756Ser) c.5180G>C (p.Trp1727Ser) c.3953G>C (p.Trp1318Ser) c.5294G>C (p.Trp1765Ser) c.5282G>C (p.Trp1761Ser) c.5246G>C (p.Trp1749Ser) c.5234G>C (p.Trp1745Ser) c.5207G>C (p.Trp1736Ser) c.4040G>C (p.Trp1347Ser) c.4028G>C (p.Trp1343Ser) c.3992G>C (p.Trp1331Ser) c.4013G>C (p.Trp1338Ser) c.2933G>C (p.Trp978Ser) c.5279G>C (p.Trp1760Ser) c.5252G>C (p.Trp1751Ser) c.5231G>C (p.Trp1744Ser) c.5219G>C (p.Trp1740Ser) c.4553G>C (p.Trp1518Ser) c.4025G>C (p.Trp1342Ser) c.5240G>C (p.Trp1747Ser) | |
19 | g.5210734C>T | CA403502067 | PTPRS | n.616G>A n.441G>A c.5306G>A (p.Trp1769Ter) c.3965G>A (p.Trp1322Ter) c.5192G>A (p.Trp1731Ter) c.3977G>A (p.Trp1326Ter) n.4247G>A c.5267G>A (p.Trp1756Ter) c.5180G>A (p.Trp1727Ter) c.3953G>A (p.Trp1318Ter) c.5294G>A (p.Trp1765Ter) c.5282G>A (p.Trp1761Ter) c.5246G>A (p.Trp1749Ter) c.5234G>A (p.Trp1745Ter) c.5207G>A (p.Trp1736Ter) c.4040G>A (p.Trp1347Ter) c.4028G>A (p.Trp1343Ter) c.3992G>A (p.Trp1331Ter) c.4013G>A (p.Trp1338Ter) c.2933G>A (p.Trp978Ter) c.5279G>A (p.Trp1760Ter) c.5252G>A (p.Trp1751Ter) c.5231G>A (p.Trp1744Ter) c.5219G>A (p.Trp1740Ter) c.4553G>A (p.Trp1518Ter) c.4025G>A (p.Trp1342Ter) c.5240G>A (p.Trp1747Ter) | |
19 | g.5210735A>C | CA403502071 | PTPRS | n.615T>G n.440T>G c.5305T>G (p.Trp1769Gly) c.3964T>G (p.Trp1322Gly) c.5191T>G (p.Trp1731Gly) c.3976T>G (p.Trp1326Gly) n.4246T>G c.5266T>G (p.Trp1756Gly) c.5179T>G (p.Trp1727Gly) c.3952T>G (p.Trp1318Gly) c.5293T>G (p.Trp1765Gly) c.5281T>G (p.Trp1761Gly) c.5245T>G (p.Trp1749Gly) c.5233T>G (p.Trp1745Gly) c.5206T>G (p.Trp1736Gly) c.4039T>G (p.Trp1347Gly) c.4027T>G (p.Trp1343Gly) c.3991T>G (p.Trp1331Gly) c.4012T>G (p.Trp1338Gly) c.2932T>G (p.Trp978Gly) c.5278T>G (p.Trp1760Gly) c.5251T>G (p.Trp1751Gly) c.5230T>G (p.Trp1744Gly) c.5218T>G (p.Trp1740Gly) c.4552T>G (p.Trp1518Gly) c.4024T>G (p.Trp1342Gly) c.5239T>G (p.Trp1747Gly) | |
19 | g.5210735A>G | CA403502072 | PTPRS | n.615T>C n.440T>C c.5305T>C (p.Trp1769Arg) c.3964T>C (p.Trp1322Arg) c.5191T>C (p.Trp1731Arg) c.3976T>C (p.Trp1326Arg) n.4246T>C c.5266T>C (p.Trp1756Arg) c.5179T>C (p.Trp1727Arg) c.3952T>C (p.Trp1318Arg) c.5293T>C (p.Trp1765Arg) c.5281T>C (p.Trp1761Arg) c.5245T>C (p.Trp1749Arg) c.5233T>C (p.Trp1745Arg) c.5206T>C (p.Trp1736Arg) c.4039T>C (p.Trp1347Arg) c.4027T>C (p.Trp1343Arg) c.3991T>C (p.Trp1331Arg) c.4012T>C (p.Trp1338Arg) c.2932T>C (p.Trp978Arg) c.5278T>C (p.Trp1760Arg) c.5251T>C (p.Trp1751Arg) c.5230T>C (p.Trp1744Arg) c.5218T>C (p.Trp1740Arg) c.4552T>C (p.Trp1518Arg) c.4024T>C (p.Trp1342Arg) c.5239T>C (p.Trp1747Arg) | |
19 | g.5210735A>T | CA403502074 | PTPRS | n.615T>A n.440T>A c.5305T>A (p.Trp1769Arg) c.3964T>A (p.Trp1322Arg) c.5191T>A (p.Trp1731Arg) c.3976T>A (p.Trp1326Arg) n.4246T>A c.5266T>A (p.Trp1756Arg) c.5179T>A (p.Trp1727Arg) c.3952T>A (p.Trp1318Arg) c.5293T>A (p.Trp1765Arg) c.5281T>A (p.Trp1761Arg) c.5245T>A (p.Trp1749Arg) c.5233T>A (p.Trp1745Arg) c.5206T>A (p.Trp1736Arg) c.4039T>A (p.Trp1347Arg) c.4027T>A (p.Trp1343Arg) c.3991T>A (p.Trp1331Arg) c.4012T>A (p.Trp1338Arg) c.2932T>A (p.Trp978Arg) c.5278T>A (p.Trp1760Arg) c.5251T>A (p.Trp1751Arg) c.5230T>A (p.Trp1744Arg) c.5218T>A (p.Trp1740Arg) c.4552T>A (p.Trp1518Arg) c.4024T>A (p.Trp1342Arg) c.5239T>A (p.Trp1747Arg) | |
19 | g.5210736C>A | CA505177062 | PTPRS | n.614G>T n.439G>T c.5304G>T (p.Leu1768=) c.3963G>T (p.Leu1321=) c.5190G>T (p.Leu1730=) c.3975G>T (p.Leu1325=) n.4245G>T c.5265G>T (p.Leu1755=) c.5178G>T (p.Leu1726=) c.3951G>T (p.Leu1317=) c.5292G>T (p.Leu1764=) c.5280G>T (p.Leu1760=) c.5244G>T (p.Leu1748=) c.5232G>T (p.Leu1744=) c.5205G>T (p.Leu1735=) c.4038G>T (p.Leu1346=) c.4026G>T (p.Leu1342=) c.3990G>T (p.Leu1330=) c.4011G>T (p.Leu1337=) c.2931G>T (p.Leu977=) c.5277G>T (p.Leu1759=) c.5250G>T (p.Leu1750=) c.5229G>T (p.Leu1743=) c.5217G>T (p.Leu1739=) c.4551G>T (p.Leu1517=) c.4023G>T (p.Leu1341=) c.5238G>T (p.Leu1746=) | |
19 | g.5210736C>G | CA505177063 | PTPRS | n.614G>C n.439G>C c.5304G>C (p.Leu1768=) c.3963G>C (p.Leu1321=) c.5190G>C (p.Leu1730=) c.3975G>C (p.Leu1325=) n.4245G>C c.5265G>C (p.Leu1755=) c.5178G>C (p.Leu1726=) c.3951G>C (p.Leu1317=) c.5292G>C (p.Leu1764=) c.5280G>C (p.Leu1760=) c.5244G>C (p.Leu1748=) c.5232G>C (p.Leu1744=) c.5205G>C (p.Leu1735=) c.4038G>C (p.Leu1346=) c.4026G>C (p.Leu1342=) c.3990G>C (p.Leu1330=) c.4011G>C (p.Leu1337=) c.2931G>C (p.Leu977=) c.5277G>C (p.Leu1759=) c.5250G>C (p.Leu1750=) c.5229G>C (p.Leu1743=) c.5217G>C (p.Leu1739=) c.4551G>C (p.Leu1517=) c.4023G>C (p.Leu1341=) c.5238G>C (p.Leu1746=) | |
19 | g.5210736C>T | CA505177064 | PTPRS | n.614G>A n.439G>A c.5304G>A (p.Leu1768=) c.3963G>A (p.Leu1321=) c.5190G>A (p.Leu1730=) c.3975G>A (p.Leu1325=) n.4245G>A c.5265G>A (p.Leu1755=) c.5178G>A (p.Leu1726=) c.3951G>A (p.Leu1317=) c.5292G>A (p.Leu1764=) c.5280G>A (p.Leu1760=) c.5244G>A (p.Leu1748=) c.5232G>A (p.Leu1744=) c.5205G>A (p.Leu1735=) c.4038G>A (p.Leu1346=) c.4026G>A (p.Leu1342=) c.3990G>A (p.Leu1330=) c.4011G>A (p.Leu1337=) c.2931G>A (p.Leu977=) c.5277G>A (p.Leu1759=) c.5250G>A (p.Leu1750=) c.5229G>A (p.Leu1743=) c.5217G>A (p.Leu1739=) c.4551G>A (p.Leu1517=) c.4023G>A (p.Leu1341=) c.5238G>A (p.Leu1746=) | |
19 | g.5210737A>C | CA403502077 | PTPRS | n.613T>G n.438T>G c.5303T>G (p.Leu1768Arg) c.3962T>G (p.Leu1321Arg) c.5189T>G (p.Leu1730Arg) c.3974T>G (p.Leu1325Arg) n.4244T>G c.5264T>G (p.Leu1755Arg) c.5177T>G (p.Leu1726Arg) c.3950T>G (p.Leu1317Arg) c.5291T>G (p.Leu1764Arg) c.5279T>G (p.Leu1760Arg) c.5243T>G (p.Leu1748Arg) c.5231T>G (p.Leu1744Arg) c.5204T>G (p.Leu1735Arg) c.4037T>G (p.Leu1346Arg) c.4025T>G (p.Leu1342Arg) c.3989T>G (p.Leu1330Arg) c.4010T>G (p.Leu1337Arg) c.2930T>G (p.Leu977Arg) c.5276T>G (p.Leu1759Arg) c.5249T>G (p.Leu1750Arg) c.5228T>G (p.Leu1743Arg) c.5216T>G (p.Leu1739Arg) c.4550T>G (p.Leu1517Arg) c.4022T>G (p.Leu1341Arg) c.5237T>G (p.Leu1746Arg) | |
19 | g.5210737A>G | CA403502078 | PTPRS | n.613T>C n.438T>C c.5303T>C (p.Leu1768Pro) c.3962T>C (p.Leu1321Pro) c.5189T>C (p.Leu1730Pro) c.3974T>C (p.Leu1325Pro) n.4244T>C c.5264T>C (p.Leu1755Pro) c.5177T>C (p.Leu1726Pro) c.3950T>C (p.Leu1317Pro) c.5291T>C (p.Leu1764Pro) c.5279T>C (p.Leu1760Pro) c.5243T>C (p.Leu1748Pro) c.5231T>C (p.Leu1744Pro) c.5204T>C (p.Leu1735Pro) c.4037T>C (p.Leu1346Pro) c.4025T>C (p.Leu1342Pro) c.3989T>C (p.Leu1330Pro) c.4010T>C (p.Leu1337Pro) c.2930T>C (p.Leu977Pro) c.5276T>C (p.Leu1759Pro) c.5249T>C (p.Leu1750Pro) c.5228T>C (p.Leu1743Pro) c.5216T>C (p.Leu1739Pro) c.4550T>C (p.Leu1517Pro) c.4022T>C (p.Leu1341Pro) c.5237T>C (p.Leu1746Pro) | |
19 | g.5210737A>T | CA403502079 | PTPRS | n.613T>A n.438T>A c.5303T>A (p.Leu1768Gln) c.3962T>A (p.Leu1321Gln) c.5189T>A (p.Leu1730Gln) c.3974T>A (p.Leu1325Gln) n.4244T>A c.5264T>A (p.Leu1755Gln) c.5177T>A (p.Leu1726Gln) c.3950T>A (p.Leu1317Gln) c.5291T>A (p.Leu1764Gln) c.5279T>A (p.Leu1760Gln) c.5243T>A (p.Leu1748Gln) c.5231T>A (p.Leu1744Gln) c.5204T>A (p.Leu1735Gln) c.4037T>A (p.Leu1346Gln) c.4025T>A (p.Leu1342Gln) c.3989T>A (p.Leu1330Gln) c.4010T>A (p.Leu1337Gln) c.2930T>A (p.Leu977Gln) c.5276T>A (p.Leu1759Gln) c.5249T>A (p.Leu1750Gln) c.5228T>A (p.Leu1743Gln) c.5216T>A (p.Leu1739Gln) c.4550T>A (p.Leu1517Gln) c.4022T>A (p.Leu1341Gln) c.5237T>A (p.Leu1746Gln) | |
19 | g.5210738G>A | CA9108775 | PTPRS | n.612C>T n.437C>T c.5302C>T (p.Leu1768=) c.3961C>T (p.Leu1321=) c.5188C>T (p.Leu1730=) c.3973C>T (p.Leu1325=) n.4243C>T c.5263C>T (p.Leu1755=) c.5176C>T (p.Leu1726=) c.3949C>T (p.Leu1317=) c.5290C>T (p.Leu1764=) c.5278C>T (p.Leu1760=) c.5242C>T (p.Leu1748=) c.5230C>T (p.Leu1744=) c.5203C>T (p.Leu1735=) c.4036C>T (p.Leu1346=) c.4024C>T (p.Leu1342=) c.3988C>T (p.Leu1330=) c.4009C>T (p.Leu1337=) c.2929C>T (p.Leu977=) c.5275C>T (p.Leu1759=) c.5248C>T (p.Leu1750=) c.5227C>T (p.Leu1743=) c.5215C>T (p.Leu1739=) c.4549C>T (p.Leu1517=) c.4021C>T (p.Leu1341=) c.5236C>T (p.Leu1746=) | dbSNP ExAC gnomAD v2 |
19 | g.5210738G>C | CA9108776 | PTPRS | n.612C>G n.437C>G c.5302C>G (p.Leu1768Val) c.3961C>G (p.Leu1321Val) c.5188C>G (p.Leu1730Val) c.3973C>G (p.Leu1325Val) n.4243C>G c.5263C>G (p.Leu1755Val) c.5176C>G (p.Leu1726Val) c.3949C>G (p.Leu1317Val) c.5290C>G (p.Leu1764Val) c.5278C>G (p.Leu1760Val) c.5242C>G (p.Leu1748Val) c.5230C>G (p.Leu1744Val) c.5203C>G (p.Leu1735Val) c.4036C>G (p.Leu1346Val) c.4024C>G (p.Leu1342Val) c.3988C>G (p.Leu1330Val) c.4009C>G (p.Leu1337Val) c.2929C>G (p.Leu977Val) c.5275C>G (p.Leu1759Val) c.5248C>G (p.Leu1750Val) c.5227C>G (p.Leu1743Val) c.5215C>G (p.Leu1739Val) c.4549C>G (p.Leu1517Val) c.4021C>G (p.Leu1341Val) c.5236C>G (p.Leu1746Val) | dbSNP ExAC gnomAD v4 |
19 | g.5210738G= | CA2319812209 | PTPRS | n.612C= n.437C= c.5302C= (p.Leu1768=) c.3961C= (p.Leu1321=) c.5188C= (p.Leu1730=) c.3973C= (p.Leu1325=) n.4243C= c.5263C= (p.Leu1755=) c.5176C= (p.Leu1726=) c.3949C= (p.Leu1317=) c.5290C= (p.Leu1764=) c.5278C= (p.Leu1760=) c.5242C= (p.Leu1748=) c.5230C= (p.Leu1744=) c.5203C= (p.Leu1735=) c.4036C= (p.Leu1346=) c.4024C= (p.Leu1342=) c.3988C= (p.Leu1330=) c.4009C= (p.Leu1337=) c.2929C= (p.Leu977=) c.5275C= (p.Leu1759=) c.5248C= (p.Leu1750=) c.5227C= (p.Leu1743=) c.5215C= (p.Leu1739=) c.4549C= (p.Leu1517=) c.4021C= (p.Leu1341=) c.5236C= (p.Leu1746=) | |
19 | g.5210738G>T | CA403502083 | PTPRS | n.612C>A n.437C>A c.5302C>A (p.Leu1768Met) c.3961C>A (p.Leu1321Met) c.5188C>A (p.Leu1730Met) c.3973C>A (p.Leu1325Met) n.4243C>A c.5263C>A (p.Leu1755Met) c.5176C>A (p.Leu1726Met) c.3949C>A (p.Leu1317Met) c.5290C>A (p.Leu1764Met) c.5278C>A (p.Leu1760Met) c.5242C>A (p.Leu1748Met) c.5230C>A (p.Leu1744Met) c.5203C>A (p.Leu1735Met) c.4036C>A (p.Leu1346Met) c.4024C>A (p.Leu1342Met) c.3988C>A (p.Leu1330Met) c.4009C>A (p.Leu1337Met) c.2929C>A (p.Leu977Met) c.5275C>A (p.Leu1759Met) c.5248C>A (p.Leu1750Met) c.5227C>A (p.Leu1743Met) c.5215C>A (p.Leu1739Met) c.4549C>A (p.Leu1517Met) c.4021C>A (p.Leu1341Met) c.5236C>A (p.Leu1746Met) | |
19 | g.5210739C>A | CA403502084 | PTPRS | n.611G>T n.436G>T c.5301G>T (p.Met1767Ile) c.3960G>T (p.Met1320Ile) c.5187G>T (p.Met1729Ile) c.3972G>T (p.Met1324Ile) n.4242G>T c.5262G>T (p.Met1754Ile) c.5175G>T (p.Met1725Ile) c.3948G>T (p.Met1316Ile) c.5289G>T (p.Met1763Ile) c.5277G>T (p.Met1759Ile) c.5241G>T (p.Met1747Ile) c.5229G>T (p.Met1743Ile) c.5202G>T (p.Met1734Ile) c.4035G>T (p.Met1345Ile) c.4023G>T (p.Met1341Ile) c.3987G>T (p.Met1329Ile) c.4008G>T (p.Met1336Ile) c.2928G>T (p.Met976Ile) c.5274G>T (p.Met1758Ile) c.5247G>T (p.Met1749Ile) c.5226G>T (p.Met1742Ile) c.5214G>T (p.Met1738Ile) c.4548G>T (p.Met1516Ile) c.4020G>T (p.Met1340Ile) c.5235G>T (p.Met1745Ile) | gnomAD v4 COSMIC COSMIC |
19 | g.5210739C= | CA2319812210 | PTPRS | n.611G= n.436G= c.5301G= (p.Met1767=) c.3960G= (p.Met1320=) c.5187G= (p.Met1729=) c.3972G= (p.Met1324=) n.4242G= c.5262G= (p.Met1754=) c.5175G= (p.Met1725=) c.3948G= (p.Met1316=) c.5289G= (p.Met1763=) c.5277G= (p.Met1759=) c.5241G= (p.Met1747=) c.5229G= (p.Met1743=) c.5202G= (p.Met1734=) c.4035G= (p.Met1345=) c.4023G= (p.Met1341=) c.3987G= (p.Met1329=) c.4008G= (p.Met1336=) c.2928G= (p.Met976=) c.5274G= (p.Met1758=) c.5247G= (p.Met1749=) c.5226G= (p.Met1742=) c.5214G= (p.Met1738=) c.4548G= (p.Met1516=) c.4020G= (p.Met1340=) c.5235G= (p.Met1745=) | |
19 | g.5210739C>G | CA9108777 | PTPRS | n.611G>C n.436G>C c.5301G>C (p.Met1767Ile) c.3960G>C (p.Met1320Ile) c.5187G>C (p.Met1729Ile) c.3972G>C (p.Met1324Ile) n.4242G>C c.5262G>C (p.Met1754Ile) c.5175G>C (p.Met1725Ile) c.3948G>C (p.Met1316Ile) c.5289G>C (p.Met1763Ile) c.5277G>C (p.Met1759Ile) c.5241G>C (p.Met1747Ile) c.5229G>C (p.Met1743Ile) c.5202G>C (p.Met1734Ile) c.4035G>C (p.Met1345Ile) c.4023G>C (p.Met1341Ile) c.3987G>C (p.Met1329Ile) c.4008G>C (p.Met1336Ile) c.2928G>C (p.Met976Ile) c.5274G>C (p.Met1758Ile) c.5247G>C (p.Met1749Ile) c.5226G>C (p.Met1742Ile) c.5214G>C (p.Met1738Ile) c.4548G>C (p.Met1516Ile) c.4020G>C (p.Met1340Ile) c.5235G>C (p.Met1745Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.5210739C>T | CA403502086 | PTPRS | n.611G>A n.436G>A c.5301G>A (p.Met1767Ile) c.3960G>A (p.Met1320Ile) c.5187G>A (p.Met1729Ile) c.3972G>A (p.Met1324Ile) n.4242G>A c.5262G>A (p.Met1754Ile) c.5175G>A (p.Met1725Ile) c.3948G>A (p.Met1316Ile) c.5289G>A (p.Met1763Ile) c.5277G>A (p.Met1759Ile) c.5241G>A (p.Met1747Ile) c.5229G>A (p.Met1743Ile) c.5202G>A (p.Met1734Ile) c.4035G>A (p.Met1345Ile) c.4023G>A (p.Met1341Ile) c.3987G>A (p.Met1329Ile) c.4008G>A (p.Met1336Ile) c.2928G>A (p.Met976Ile) c.5274G>A (p.Met1758Ile) c.5247G>A (p.Met1749Ile) c.5226G>A (p.Met1742Ile) c.5214G>A (p.Met1738Ile) c.4548G>A (p.Met1516Ile) c.4020G>A (p.Met1340Ile) c.5235G>A (p.Met1745Ile) | |
19 | g.5210740A>C | CA403502091 | PTPRS | n.610T>G n.435T>G c.5300T>G (p.Met1767Arg) c.3959T>G (p.Met1320Arg) c.5186T>G (p.Met1729Arg) c.3971T>G (p.Met1324Arg) n.4241T>G c.5261T>G (p.Met1754Arg) c.5174T>G (p.Met1725Arg) c.3947T>G (p.Met1316Arg) c.5288T>G (p.Met1763Arg) c.5276T>G (p.Met1759Arg) c.5240T>G (p.Met1747Arg) c.5228T>G (p.Met1743Arg) c.5201T>G (p.Met1734Arg) c.4034T>G (p.Met1345Arg) c.4022T>G (p.Met1341Arg) c.3986T>G (p.Met1329Arg) c.4007T>G (p.Met1336Arg) c.2927T>G (p.Met976Arg) c.5273T>G (p.Met1758Arg) c.5246T>G (p.Met1749Arg) c.5225T>G (p.Met1742Arg) c.5213T>G (p.Met1738Arg) c.4547T>G (p.Met1516Arg) c.4019T>G (p.Met1340Arg) c.5234T>G (p.Met1745Arg) | |
19 | g.5210740A>G | CA403502089 | PTPRS | n.610T>C n.435T>C c.5300T>C (p.Met1767Thr) c.3959T>C (p.Met1320Thr) c.5186T>C (p.Met1729Thr) c.3971T>C (p.Met1324Thr) n.4241T>C c.5261T>C (p.Met1754Thr) c.5174T>C (p.Met1725Thr) c.3947T>C (p.Met1316Thr) c.5288T>C (p.Met1763Thr) c.5276T>C (p.Met1759Thr) c.5240T>C (p.Met1747Thr) c.5228T>C (p.Met1743Thr) c.5201T>C (p.Met1734Thr) c.4034T>C (p.Met1345Thr) c.4022T>C (p.Met1341Thr) c.3986T>C (p.Met1329Thr) c.4007T>C (p.Met1336Thr) c.2927T>C (p.Met976Thr) c.5273T>C (p.Met1758Thr) c.5246T>C (p.Met1749Thr) c.5225T>C (p.Met1742Thr) c.5213T>C (p.Met1738Thr) c.4547T>C (p.Met1516Thr) c.4019T>C (p.Met1340Thr) c.5234T>C (p.Met1745Thr) | |
19 | g.5210740A>T | CA403502090 | PTPRS | n.610T>A n.435T>A c.5300T>A (p.Met1767Lys) c.3959T>A (p.Met1320Lys) c.5186T>A (p.Met1729Lys) c.3971T>A (p.Met1324Lys) n.4241T>A c.5261T>A (p.Met1754Lys) c.5174T>A (p.Met1725Lys) c.3947T>A (p.Met1316Lys) c.5288T>A (p.Met1763Lys) c.5276T>A (p.Met1759Lys) c.5240T>A (p.Met1747Lys) c.5228T>A (p.Met1743Lys) c.5201T>A (p.Met1734Lys) c.4034T>A (p.Met1345Lys) c.4022T>A (p.Met1341Lys) c.3986T>A (p.Met1329Lys) c.4007T>A (p.Met1336Lys) c.2927T>A (p.Met976Lys) c.5273T>A (p.Met1758Lys) c.5246T>A (p.Met1749Lys) c.5225T>A (p.Met1742Lys) c.5213T>A (p.Met1738Lys) c.4547T>A (p.Met1516Lys) c.4019T>A (p.Met1340Lys) c.5234T>A (p.Met1745Lys) | |
19 | g.5210741T>A | CA403502094 | PTPRS | n.609A>T n.434A>T c.5299A>T (p.Met1767Leu) c.3958A>T (p.Met1320Leu) c.5185A>T (p.Met1729Leu) c.3970A>T (p.Met1324Leu) n.4240A>T c.5260A>T (p.Met1754Leu) c.5173A>T (p.Met1725Leu) c.3946A>T (p.Met1316Leu) c.5287A>T (p.Met1763Leu) c.5275A>T (p.Met1759Leu) c.5239A>T (p.Met1747Leu) c.5227A>T (p.Met1743Leu) c.5200A>T (p.Met1734Leu) c.4033A>T (p.Met1345Leu) c.4021A>T (p.Met1341Leu) c.3985A>T (p.Met1329Leu) c.4006A>T (p.Met1336Leu) c.2926A>T (p.Met976Leu) c.5272A>T (p.Met1758Leu) c.5245A>T (p.Met1749Leu) c.5224A>T (p.Met1742Leu) c.5212A>T (p.Met1738Leu) c.4546A>T (p.Met1516Leu) c.4018A>T (p.Met1340Leu) c.5233A>T (p.Met1745Leu) | |
19 | g.5210741T>C | CA403502095 | PTPRS | n.609A>G n.434A>G c.5299A>G (p.Met1767Val) c.3958A>G (p.Met1320Val) c.5185A>G (p.Met1729Val) c.3970A>G (p.Met1324Val) n.4240A>G c.5260A>G (p.Met1754Val) c.5173A>G (p.Met1725Val) c.3946A>G (p.Met1316Val) c.5287A>G (p.Met1763Val) c.5275A>G (p.Met1759Val) c.5239A>G (p.Met1747Val) c.5227A>G (p.Met1743Val) c.5200A>G (p.Met1734Val) c.4033A>G (p.Met1345Val) c.4021A>G (p.Met1341Val) c.3985A>G (p.Met1329Val) c.4006A>G (p.Met1336Val) c.2926A>G (p.Met976Val) c.5272A>G (p.Met1758Val) c.5245A>G (p.Met1749Val) c.5224A>G (p.Met1742Val) c.5212A>G (p.Met1738Val) c.4546A>G (p.Met1516Val) c.4018A>G (p.Met1340Val) c.5233A>G (p.Met1745Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.5210741T>G | CA9108778 | PTPRS | n.609A>C n.434A>C c.5299A>C (p.Met1767Leu) c.3958A>C (p.Met1320Leu) c.5185A>C (p.Met1729Leu) c.3970A>C (p.Met1324Leu) n.4240A>C c.5260A>C (p.Met1754Leu) c.5173A>C (p.Met1725Leu) c.3946A>C (p.Met1316Leu) c.5287A>C (p.Met1763Leu) c.5275A>C (p.Met1759Leu) c.5239A>C (p.Met1747Leu) c.5227A>C (p.Met1743Leu) c.5200A>C (p.Met1734Leu) c.4033A>C (p.Met1345Leu) c.4021A>C (p.Met1341Leu) c.3985A>C (p.Met1329Leu) c.4006A>C (p.Met1336Leu) c.2926A>C (p.Met976Leu) c.5272A>C (p.Met1758Leu) c.5245A>C (p.Met1749Leu) c.5224A>C (p.Met1742Leu) c.5212A>C (p.Met1738Leu) c.4546A>C (p.Met1516Leu) c.4018A>C (p.Met1340Leu) c.5233A>C (p.Met1745Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.5210741T= | CA2319812211 | PTPRS | n.609A= n.434A= c.5299A= (p.Met1767=) c.3958A= (p.Met1320=) c.5185A= (p.Met1729=) c.3970A= (p.Met1324=) n.4240A= c.5260A= (p.Met1754=) c.5173A= (p.Met1725=) c.3946A= (p.Met1316=) c.5287A= (p.Met1763=) c.5275A= (p.Met1759=) c.5239A= (p.Met1747=) c.5227A= (p.Met1743=) c.5200A= (p.Met1734=) c.4033A= (p.Met1345=) c.4021A= (p.Met1341=) c.3985A= (p.Met1329=) c.4006A= (p.Met1336=) c.2926A= (p.Met976=) c.5272A= (p.Met1758=) c.5245A= (p.Met1749=) c.5224A= (p.Met1742=) c.5212A= (p.Met1738=) c.4546A= (p.Met1516=) c.4018A= (p.Met1340=) c.5233A= (p.Met1745=) | |
19 | g.5210742G>A | CA505177065 | PTPRS | n.608C>T n.433C>T c.5298C>T (p.Arg1766=) c.3957C>T (p.Arg1319=) c.5184C>T (p.Arg1728=) c.3969C>T (p.Arg1323=) n.4239C>T c.5259C>T (p.Arg1753=) c.5172C>T (p.Arg1724=) c.3945C>T (p.Arg1315=) c.5286C>T (p.Arg1762=) c.5274C>T (p.Arg1758=) c.5238C>T (p.Arg1746=) c.5226C>T (p.Arg1742=) c.5199C>T (p.Arg1733=) c.4032C>T (p.Arg1344=) c.4020C>T (p.Arg1340=) c.3984C>T (p.Arg1328=) c.4005C>T (p.Arg1335=) c.2925C>T (p.Arg975=) c.5271C>T (p.Arg1757=) c.5244C>T (p.Arg1748=) c.5223C>T (p.Arg1741=) c.5211C>T (p.Arg1737=) c.4545C>T (p.Arg1515=) c.4017C>T (p.Arg1339=) c.5232C>T (p.Arg1744=) | gnomAD v4 |
19 | g.5210742G>C | CA505177066 | PTPRS | n.608C>G n.433C>G c.5298C>G (p.Arg1766=) c.3957C>G (p.Arg1319=) c.5184C>G (p.Arg1728=) c.3969C>G (p.Arg1323=) n.4239C>G c.5259C>G (p.Arg1753=) c.5172C>G (p.Arg1724=) c.3945C>G (p.Arg1315=) c.5286C>G (p.Arg1762=) c.5274C>G (p.Arg1758=) c.5238C>G (p.Arg1746=) c.5226C>G (p.Arg1742=) c.5199C>G (p.Arg1733=) c.4032C>G (p.Arg1344=) c.4020C>G (p.Arg1340=) c.3984C>G (p.Arg1328=) c.4005C>G (p.Arg1335=) c.2925C>G (p.Arg975=) c.5271C>G (p.Arg1757=) c.5244C>G (p.Arg1748=) c.5223C>G (p.Arg1741=) c.5211C>G (p.Arg1737=) c.4545C>G (p.Arg1515=) c.4017C>G (p.Arg1339=) c.5232C>G (p.Arg1744=) | |
19 | g.5210742G>T | CA505177067 | PTPRS | n.608C>A n.433C>A c.5298C>A (p.Arg1766=) c.3957C>A (p.Arg1319=) c.5184C>A (p.Arg1728=) c.3969C>A (p.Arg1323=) n.4239C>A c.5259C>A (p.Arg1753=) c.5172C>A (p.Arg1724=) c.3945C>A (p.Arg1315=) c.5286C>A (p.Arg1762=) c.5274C>A (p.Arg1758=) c.5238C>A (p.Arg1746=) c.5226C>A (p.Arg1742=) c.5199C>A (p.Arg1733=) c.4032C>A (p.Arg1344=) c.4020C>A (p.Arg1340=) c.3984C>A (p.Arg1328=) c.4005C>A (p.Arg1335=) c.2925C>A (p.Arg975=) c.5271C>A (p.Arg1757=) c.5244C>A (p.Arg1748=) c.5223C>A (p.Arg1741=) c.5211C>A (p.Arg1737=) c.4545C>A (p.Arg1515=) c.4017C>A (p.Arg1339=) c.5232C>A (p.Arg1744=) | |
19 | g.5210743C>A | CA403502098 | PTPRS | n.607G>T n.432G>T c.5297G>T (p.Arg1766Leu) c.3956G>T (p.Arg1319Leu) c.5183G>T (p.Arg1728Leu) c.3968G>T (p.Arg1323Leu) n.4238G>T c.5258G>T (p.Arg1753Leu) c.5171G>T (p.Arg1724Leu) c.3944G>T (p.Arg1315Leu) c.5285G>T (p.Arg1762Leu) c.5273G>T (p.Arg1758Leu) c.5237G>T (p.Arg1746Leu) c.5225G>T (p.Arg1742Leu) c.5198G>T (p.Arg1733Leu) c.4031G>T (p.Arg1344Leu) c.4019G>T (p.Arg1340Leu) c.3983G>T (p.Arg1328Leu) c.4004G>T (p.Arg1335Leu) c.2924G>T (p.Arg975Leu) c.5270G>T (p.Arg1757Leu) c.5243G>T (p.Arg1748Leu) c.5222G>T (p.Arg1741Leu) c.5210G>T (p.Arg1737Leu) c.4544G>T (p.Arg1515Leu) c.4016G>T (p.Arg1339Leu) c.5231G>T (p.Arg1744Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.5210743C= | CA2319812212 | PTPRS | n.607G= n.432G= c.5297G= (p.Arg1766=) c.3956G= (p.Arg1319=) c.5183G= (p.Arg1728=) c.3968G= (p.Arg1323=) n.4238G= c.5258G= (p.Arg1753=) c.5171G= (p.Arg1724=) c.3944G= (p.Arg1315=) c.5285G= (p.Arg1762=) c.5273G= (p.Arg1758=) c.5237G= (p.Arg1746=) c.5225G= (p.Arg1742=) c.5198G= (p.Arg1733=) c.4031G= (p.Arg1344=) c.4019G= (p.Arg1340=) c.3983G= (p.Arg1328=) c.4004G= (p.Arg1335=) c.2924G= (p.Arg975=) c.5270G= (p.Arg1757=) c.5243G= (p.Arg1748=) c.5222G= (p.Arg1741=) c.5210G= (p.Arg1737=) c.4544G= (p.Arg1515=) c.4016G= (p.Arg1339=) c.5231G= (p.Arg1744=) | |
19 | g.5210743C>G | CA403502100 | PTPRS | n.607G>C n.432G>C c.5297G>C (p.Arg1766Pro) c.3956G>C (p.Arg1319Pro) c.5183G>C (p.Arg1728Pro) c.3968G>C (p.Arg1323Pro) n.4238G>C c.5258G>C (p.Arg1753Pro) c.5171G>C (p.Arg1724Pro) c.3944G>C (p.Arg1315Pro) c.5285G>C (p.Arg1762Pro) c.5273G>C (p.Arg1758Pro) c.5237G>C (p.Arg1746Pro) c.5225G>C (p.Arg1742Pro) c.5198G>C (p.Arg1733Pro) c.4031G>C (p.Arg1344Pro) c.4019G>C (p.Arg1340Pro) c.3983G>C (p.Arg1328Pro) c.4004G>C (p.Arg1335Pro) c.2924G>C (p.Arg975Pro) c.5270G>C (p.Arg1757Pro) c.5243G>C (p.Arg1748Pro) c.5222G>C (p.Arg1741Pro) c.5210G>C (p.Arg1737Pro) c.4544G>C (p.Arg1515Pro) c.4016G>C (p.Arg1339Pro) c.5231G>C (p.Arg1744Pro) | |
19 | g.5210743C>T | CA9108779 | PTPRS | n.607G>A n.432G>A c.5297G>A (p.Arg1766His) c.3956G>A (p.Arg1319His) c.5183G>A (p.Arg1728His) c.3968G>A (p.Arg1323His) n.4238G>A c.5258G>A (p.Arg1753His) c.5171G>A (p.Arg1724His) c.3944G>A (p.Arg1315His) c.5285G>A (p.Arg1762His) c.5273G>A (p.Arg1758His) c.5237G>A (p.Arg1746His) c.5225G>A (p.Arg1742His) c.5198G>A (p.Arg1733His) c.4031G>A (p.Arg1344His) c.4019G>A (p.Arg1340His) c.3983G>A (p.Arg1328His) c.4004G>A (p.Arg1335His) c.2924G>A (p.Arg975His) c.5270G>A (p.Arg1757His) c.5243G>A (p.Arg1748His) c.5222G>A (p.Arg1741His) c.5210G>A (p.Arg1737His) c.4544G>A (p.Arg1515His) c.4016G>A (p.Arg1339His) c.5231G>A (p.Arg1744His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.5210744G>A | CA403502102 | PTPRS | n.606C>T n.431C>T c.5296C>T (p.Arg1766Cys) c.3955C>T (p.Arg1319Cys) c.5182C>T (p.Arg1728Cys) c.3967C>T (p.Arg1323Cys) n.4237C>T c.5257C>T (p.Arg1753Cys) c.5170C>T (p.Arg1724Cys) c.3943C>T (p.Arg1315Cys) c.5284C>T (p.Arg1762Cys) c.5272C>T (p.Arg1758Cys) c.5236C>T (p.Arg1746Cys) c.5224C>T (p.Arg1742Cys) c.5197C>T (p.Arg1733Cys) c.4030C>T (p.Arg1344Cys) c.4018C>T (p.Arg1340Cys) c.3982C>T (p.Arg1328Cys) c.4003C>T (p.Arg1335Cys) c.2923C>T (p.Arg975Cys) c.5269C>T (p.Arg1757Cys) c.5242C>T (p.Arg1748Cys) c.5221C>T (p.Arg1741Cys) c.5209C>T (p.Arg1737Cys) c.4543C>T (p.Arg1515Cys) c.4015C>T (p.Arg1339Cys) c.5230C>T (p.Arg1744Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.5210744G>C | CA403502103 | PTPRS | n.606C>G n.431C>G c.5296C>G (p.Arg1766Gly) c.3955C>G (p.Arg1319Gly) c.5182C>G (p.Arg1728Gly) c.3967C>G (p.Arg1323Gly) n.4237C>G c.5257C>G (p.Arg1753Gly) c.5170C>G (p.Arg1724Gly) c.3943C>G (p.Arg1315Gly) c.5284C>G (p.Arg1762Gly) c.5272C>G (p.Arg1758Gly) c.5236C>G (p.Arg1746Gly) c.5224C>G (p.Arg1742Gly) c.5197C>G (p.Arg1733Gly) c.4030C>G (p.Arg1344Gly) c.4018C>G (p.Arg1340Gly) c.3982C>G (p.Arg1328Gly) c.4003C>G (p.Arg1335Gly) c.2923C>G (p.Arg975Gly) c.5269C>G (p.Arg1757Gly) c.5242C>G (p.Arg1748Gly) c.5221C>G (p.Arg1741Gly) c.5209C>G (p.Arg1737Gly) c.4543C>G (p.Arg1515Gly) c.4015C>G (p.Arg1339Gly) c.5230C>G (p.Arg1744Gly) | |
19 | g.5210744G= | CA2319812213 | PTPRS | n.606C= n.431C= c.5296C= (p.Arg1766=) c.3955C= (p.Arg1319=) c.5182C= (p.Arg1728=) c.3967C= (p.Arg1323=) n.4237C= c.5257C= (p.Arg1753=) c.5170C= (p.Arg1724=) c.3943C= (p.Arg1315=) c.5284C= (p.Arg1762=) c.5272C= (p.Arg1758=) c.5236C= (p.Arg1746=) c.5224C= (p.Arg1742=) c.5197C= (p.Arg1733=) c.4030C= (p.Arg1344=) c.4018C= (p.Arg1340=) c.3982C= (p.Arg1328=) c.4003C= (p.Arg1335=) c.2923C= (p.Arg975=) c.5269C= (p.Arg1757=) c.5242C= (p.Arg1748=) c.5221C= (p.Arg1741=) c.5209C= (p.Arg1737=) c.4543C= (p.Arg1515=) c.4015C= (p.Arg1339=) c.5230C= (p.Arg1744=) | |
19 | g.5210744G>T | CA403502105 | PTPRS | n.606C>A n.431C>A c.5296C>A (p.Arg1766Ser) c.3955C>A (p.Arg1319Ser) c.5182C>A (p.Arg1728Ser) c.3967C>A (p.Arg1323Ser) n.4237C>A c.5257C>A (p.Arg1753Ser) c.5170C>A (p.Arg1724Ser) c.3943C>A (p.Arg1315Ser) c.5284C>A (p.Arg1762Ser) c.5272C>A (p.Arg1758Ser) c.5236C>A (p.Arg1746Ser) c.5224C>A (p.Arg1742Ser) c.5197C>A (p.Arg1733Ser) c.4030C>A (p.Arg1344Ser) c.4018C>A (p.Arg1340Ser) c.3982C>A (p.Arg1328Ser) c.4003C>A (p.Arg1335Ser) c.2923C>A (p.Arg975Ser) c.5269C>A (p.Arg1757Ser) c.5242C>A (p.Arg1748Ser) c.5221C>A (p.Arg1741Ser) c.5209C>A (p.Arg1737Ser) c.4543C>A (p.Arg1515Ser) c.4015C>A (p.Arg1339Ser) c.5230C>A (p.Arg1744Ser) | |
19 | g.5210745C>A | CA403502107 | PTPRS | n.605G>T n.430G>T c.5295G>T (p.Trp1765Cys) c.3954G>T (p.Trp1318Cys) c.5181G>T (p.Trp1727Cys) c.3966G>T (p.Trp1322Cys) n.4236G>T c.5256G>T (p.Trp1752Cys) c.5169G>T (p.Trp1723Cys) c.3942G>T (p.Trp1314Cys) c.5283G>T (p.Trp1761Cys) c.5271G>T (p.Trp1757Cys) c.5235G>T (p.Trp1745Cys) c.5223G>T (p.Trp1741Cys) c.5196G>T (p.Trp1732Cys) c.4029G>T (p.Trp1343Cys) c.4017G>T (p.Trp1339Cys) c.3981G>T (p.Trp1327Cys) c.4002G>T (p.Trp1334Cys) c.2922G>T (p.Trp974Cys) c.5268G>T (p.Trp1756Cys) c.5241G>T (p.Trp1747Cys) c.5220G>T (p.Trp1740Cys) c.5208G>T (p.Trp1736Cys) c.4542G>T (p.Trp1514Cys) c.4014G>T (p.Trp1338Cys) c.5229G>T (p.Trp1743Cys) | |
19 | g.5210745C>G | CA403502108 | PTPRS | n.605G>C n.430G>C c.5295G>C (p.Trp1765Cys) c.3954G>C (p.Trp1318Cys) c.5181G>C (p.Trp1727Cys) c.3966G>C (p.Trp1322Cys) n.4236G>C c.5256G>C (p.Trp1752Cys) c.5169G>C (p.Trp1723Cys) c.3942G>C (p.Trp1314Cys) c.5283G>C (p.Trp1761Cys) c.5271G>C (p.Trp1757Cys) c.5235G>C (p.Trp1745Cys) c.5223G>C (p.Trp1741Cys) c.5196G>C (p.Trp1732Cys) c.4029G>C (p.Trp1343Cys) c.4017G>C (p.Trp1339Cys) c.3981G>C (p.Trp1327Cys) c.4002G>C (p.Trp1334Cys) c.2922G>C (p.Trp974Cys) c.5268G>C (p.Trp1756Cys) c.5241G>C (p.Trp1747Cys) c.5220G>C (p.Trp1740Cys) c.5208G>C (p.Trp1736Cys) c.4542G>C (p.Trp1514Cys) c.4014G>C (p.Trp1338Cys) c.5229G>C (p.Trp1743Cys) | |
19 | g.5210745C>T | CA403502110 | PTPRS | n.605G>A n.430G>A c.5295G>A (p.Trp1765Ter) c.3954G>A (p.Trp1318Ter) c.5181G>A (p.Trp1727Ter) c.3966G>A (p.Trp1322Ter) n.4236G>A c.5256G>A (p.Trp1752Ter) c.5169G>A (p.Trp1723Ter) c.3942G>A (p.Trp1314Ter) c.5283G>A (p.Trp1761Ter) c.5271G>A (p.Trp1757Ter) c.5235G>A (p.Trp1745Ter) c.5223G>A (p.Trp1741Ter) c.5196G>A (p.Trp1732Ter) c.4029G>A (p.Trp1343Ter) c.4017G>A (p.Trp1339Ter) c.3981G>A (p.Trp1327Ter) c.4002G>A (p.Trp1334Ter) c.2922G>A (p.Trp974Ter) c.5268G>A (p.Trp1756Ter) c.5241G>A (p.Trp1747Ter) c.5220G>A (p.Trp1740Ter) c.5208G>A (p.Trp1736Ter) c.4542G>A (p.Trp1514Ter) c.4014G>A (p.Trp1338Ter) c.5229G>A (p.Trp1743Ter) | |
19 | g.5210746C>A | CA403502114 | PTPRS | n.604G>T n.429G>T c.5294G>T (p.Trp1765Leu) c.3953G>T (p.Trp1318Leu) c.5180G>T (p.Trp1727Leu) c.3965G>T (p.Trp1322Leu) n.4235G>T c.5255G>T (p.Trp1752Leu) c.5168G>T (p.Trp1723Leu) c.3941G>T (p.Trp1314Leu) c.5282G>T (p.Trp1761Leu) c.5270G>T (p.Trp1757Leu) c.5234G>T (p.Trp1745Leu) c.5222G>T (p.Trp1741Leu) c.5195G>T (p.Trp1732Leu) c.4028G>T (p.Trp1343Leu) c.4016G>T (p.Trp1339Leu) c.3980G>T (p.Trp1327Leu) c.4001G>T (p.Trp1334Leu) c.2921G>T (p.Trp974Leu) c.5267G>T (p.Trp1756Leu) c.5240G>T (p.Trp1747Leu) c.5219G>T (p.Trp1740Leu) c.5207G>T (p.Trp1736Leu) c.4541G>T (p.Trp1514Leu) c.4013G>T (p.Trp1338Leu) c.5228G>T (p.Trp1743Leu) | |
19 | g.5210746C>G | CA403502113 | PTPRS | n.604G>C n.429G>C c.5294G>C (p.Trp1765Ser) c.3953G>C (p.Trp1318Ser) c.5180G>C (p.Trp1727Ser) c.3965G>C (p.Trp1322Ser) n.4235G>C c.5255G>C (p.Trp1752Ser) c.5168G>C (p.Trp1723Ser) c.3941G>C (p.Trp1314Ser) c.5282G>C (p.Trp1761Ser) c.5270G>C (p.Trp1757Ser) c.5234G>C (p.Trp1745Ser) c.5222G>C (p.Trp1741Ser) c.5195G>C (p.Trp1732Ser) c.4028G>C (p.Trp1343Ser) c.4016G>C (p.Trp1339Ser) c.3980G>C (p.Trp1327Ser) c.4001G>C (p.Trp1334Ser) c.2921G>C (p.Trp974Ser) c.5267G>C (p.Trp1756Ser) c.5240G>C (p.Trp1747Ser) c.5219G>C (p.Trp1740Ser) c.5207G>C (p.Trp1736Ser) c.4541G>C (p.Trp1514Ser) c.4013G>C (p.Trp1338Ser) c.5228G>C (p.Trp1743Ser) | |
19 | g.5210746C>T | CA403502112 | PTPRS | n.604G>A n.429G>A c.5294G>A (p.Trp1765Ter) c.3953G>A (p.Trp1318Ter) c.5180G>A (p.Trp1727Ter) c.3965G>A (p.Trp1322Ter) n.4235G>A c.5255G>A (p.Trp1752Ter) c.5168G>A (p.Trp1723Ter) c.3941G>A (p.Trp1314Ter) c.5282G>A (p.Trp1761Ter) c.5270G>A (p.Trp1757Ter) c.5234G>A (p.Trp1745Ter) c.5222G>A (p.Trp1741Ter) c.5195G>A (p.Trp1732Ter) c.4028G>A (p.Trp1343Ter) c.4016G>A (p.Trp1339Ter) c.3980G>A (p.Trp1327Ter) c.4001G>A (p.Trp1334Ter) c.2921G>A (p.Trp974Ter) c.5267G>A (p.Trp1756Ter) c.5240G>A (p.Trp1747Ter) c.5219G>A (p.Trp1740Ter) c.5207G>A (p.Trp1736Ter) c.4541G>A (p.Trp1514Ter) c.4013G>A (p.Trp1338Ter) c.5228G>A (p.Trp1743Ter) | |
19 | g.5210747A>C | CA403502116 | PTPRS | n.603T>G n.428T>G c.5293T>G (p.Trp1765Gly) c.3952T>G (p.Trp1318Gly) c.5179T>G (p.Trp1727Gly) c.3964T>G (p.Trp1322Gly) n.4234T>G c.5254T>G (p.Trp1752Gly) c.5167T>G (p.Trp1723Gly) c.3940T>G (p.Trp1314Gly) c.5281T>G (p.Trp1761Gly) c.5269T>G (p.Trp1757Gly) c.5233T>G (p.Trp1745Gly) c.5221T>G (p.Trp1741Gly) c.5194T>G (p.Trp1732Gly) c.4027T>G (p.Trp1343Gly) c.4015T>G (p.Trp1339Gly) c.3979T>G (p.Trp1327Gly) c.4000T>G (p.Trp1334Gly) c.2920T>G (p.Trp974Gly) c.5266T>G (p.Trp1756Gly) c.5239T>G (p.Trp1747Gly) c.5218T>G (p.Trp1740Gly) c.5206T>G (p.Trp1736Gly) c.4540T>G (p.Trp1514Gly) c.4012T>G (p.Trp1338Gly) c.5227T>G (p.Trp1743Gly) | |
19 | g.5210747A>G | CA403502119 | PTPRS | n.603T>C n.428T>C c.5293T>C (p.Trp1765Arg) c.3952T>C (p.Trp1318Arg) c.5179T>C (p.Trp1727Arg) c.3964T>C (p.Trp1322Arg) n.4234T>C c.5254T>C (p.Trp1752Arg) c.5167T>C (p.Trp1723Arg) c.3940T>C (p.Trp1314Arg) c.5281T>C (p.Trp1761Arg) c.5269T>C (p.Trp1757Arg) c.5233T>C (p.Trp1745Arg) c.5221T>C (p.Trp1741Arg) c.5194T>C (p.Trp1732Arg) c.4027T>C (p.Trp1343Arg) c.4015T>C (p.Trp1339Arg) c.3979T>C (p.Trp1327Arg) c.4000T>C (p.Trp1334Arg) c.2920T>C (p.Trp974Arg) c.5266T>C (p.Trp1756Arg) c.5239T>C (p.Trp1747Arg) c.5218T>C (p.Trp1740Arg) c.5206T>C (p.Trp1736Arg) c.4540T>C (p.Trp1514Arg) c.4012T>C (p.Trp1338Arg) c.5227T>C (p.Trp1743Arg) | |
19 | g.5210747A>T | CA403502117 | PTPRS | n.603T>A n.428T>A c.5293T>A (p.Trp1765Arg) c.3952T>A (p.Trp1318Arg) c.5179T>A (p.Trp1727Arg) c.3964T>A (p.Trp1322Arg) n.4234T>A c.5254T>A (p.Trp1752Arg) c.5167T>A (p.Trp1723Arg) c.3940T>A (p.Trp1314Arg) c.5281T>A (p.Trp1761Arg) c.5269T>A (p.Trp1757Arg) c.5233T>A (p.Trp1745Arg) c.5221T>A (p.Trp1741Arg) c.5194T>A (p.Trp1732Arg) c.4027T>A (p.Trp1343Arg) c.4015T>A (p.Trp1339Arg) c.3979T>A (p.Trp1327Arg) c.4000T>A (p.Trp1334Arg) c.2920T>A (p.Trp974Arg) c.5266T>A (p.Trp1756Arg) c.5239T>A (p.Trp1747Arg) c.5218T>A (p.Trp1740Arg) c.5206T>A (p.Trp1736Arg) c.4540T>A (p.Trp1514Arg) c.4012T>A (p.Trp1338Arg) c.5227T>A (p.Trp1743Arg) | |
19 | g.5210748G>A | CA505177068 | PTPRS | n.602C>T n.427C>T c.5292C>T (p.Phe1764=) c.3951C>T (p.Phe1317=) c.5178C>T (p.Phe1726=) c.3963C>T (p.Phe1321=) n.4233C>T c.5253C>T (p.Phe1751=) c.5166C>T (p.Phe1722=) c.3939C>T (p.Phe1313=) c.5280C>T (p.Phe1760=) c.5268C>T (p.Phe1756=) c.5232C>T (p.Phe1744=) c.5220C>T (p.Phe1740=) c.5193C>T (p.Phe1731=) c.4026C>T (p.Phe1342=) c.4014C>T (p.Phe1338=) c.3978C>T (p.Phe1326=) c.3999C>T (p.Phe1333=) c.2919C>T (p.Phe973=) c.5265C>T (p.Phe1755=) c.5238C>T (p.Phe1746=) c.5217C>T (p.Phe1739=) c.5205C>T (p.Phe1735=) c.4539C>T (p.Phe1513=) c.4011C>T (p.Phe1337=) c.5226C>T (p.Phe1742=) | COSMIC |
19 | g.5210748G>C | CA403502121 | PTPRS | n.602C>G n.427C>G c.5292C>G (p.Phe1764Leu) c.3951C>G (p.Phe1317Leu) c.5178C>G (p.Phe1726Leu) c.3963C>G (p.Phe1321Leu) n.4233C>G c.5253C>G (p.Phe1751Leu) c.5166C>G (p.Phe1722Leu) c.3939C>G (p.Phe1313Leu) c.5280C>G (p.Phe1760Leu) c.5268C>G (p.Phe1756Leu) c.5232C>G (p.Phe1744Leu) c.5220C>G (p.Phe1740Leu) c.5193C>G (p.Phe1731Leu) c.4026C>G (p.Phe1342Leu) c.4014C>G (p.Phe1338Leu) c.3978C>G (p.Phe1326Leu) c.3999C>G (p.Phe1333Leu) c.2919C>G (p.Phe973Leu) c.5265C>G (p.Phe1755Leu) c.5238C>G (p.Phe1746Leu) c.5217C>G (p.Phe1739Leu) c.5205C>G (p.Phe1735Leu) c.4539C>G (p.Phe1513Leu) c.4011C>G (p.Phe1337Leu) c.5226C>G (p.Phe1742Leu) | |
19 | g.5210748G>T | CA403502122 | PTPRS | n.602C>A n.427C>A c.5292C>A (p.Phe1764Leu) c.3951C>A (p.Phe1317Leu) c.5178C>A (p.Phe1726Leu) c.3963C>A (p.Phe1321Leu) n.4233C>A c.5253C>A (p.Phe1751Leu) c.5166C>A (p.Phe1722Leu) c.3939C>A (p.Phe1313Leu) c.5280C>A (p.Phe1760Leu) c.5268C>A (p.Phe1756Leu) c.5232C>A (p.Phe1744Leu) c.5220C>A (p.Phe1740Leu) c.5193C>A (p.Phe1731Leu) c.4026C>A (p.Phe1342Leu) c.4014C>A (p.Phe1338Leu) c.3978C>A (p.Phe1326Leu) c.3999C>A (p.Phe1333Leu) c.2919C>A (p.Phe973Leu) c.5265C>A (p.Phe1755Leu) c.5238C>A (p.Phe1746Leu) c.5217C>A (p.Phe1739Leu) c.5205C>A (p.Phe1735Leu) c.4539C>A (p.Phe1513Leu) c.4011C>A (p.Phe1337Leu) c.5226C>A (p.Phe1742Leu) | |
19 | g.5210749A>C | CA403502124 | PTPRS | n.601T>G n.426T>G c.5291T>G (p.Phe1764Cys) c.3950T>G (p.Phe1317Cys) c.5177T>G (p.Phe1726Cys) c.3962T>G (p.Phe1321Cys) n.4232T>G c.5252T>G (p.Phe1751Cys) c.5165T>G (p.Phe1722Cys) c.3938T>G (p.Phe1313Cys) c.5279T>G (p.Phe1760Cys) c.5267T>G (p.Phe1756Cys) c.5231T>G (p.Phe1744Cys) c.5219T>G (p.Phe1740Cys) c.5192T>G (p.Phe1731Cys) c.4025T>G (p.Phe1342Cys) c.4013T>G (p.Phe1338Cys) c.3977T>G (p.Phe1326Cys) c.3998T>G (p.Phe1333Cys) c.2918T>G (p.Phe973Cys) c.5264T>G (p.Phe1755Cys) c.5237T>G (p.Phe1746Cys) c.5216T>G (p.Phe1739Cys) c.5204T>G (p.Phe1735Cys) c.4538T>G (p.Phe1513Cys) c.4010T>G (p.Phe1337Cys) c.5225T>G (p.Phe1742Cys) | |
19 | g.5210749A>G | CA403502126 | PTPRS | n.601T>C n.426T>C c.5291T>C (p.Phe1764Ser) c.3950T>C (p.Phe1317Ser) c.5177T>C (p.Phe1726Ser) c.3962T>C (p.Phe1321Ser) n.4232T>C c.5252T>C (p.Phe1751Ser) c.5165T>C (p.Phe1722Ser) c.3938T>C (p.Phe1313Ser) c.5279T>C (p.Phe1760Ser) c.5267T>C (p.Phe1756Ser) c.5231T>C (p.Phe1744Ser) c.5219T>C (p.Phe1740Ser) c.5192T>C (p.Phe1731Ser) c.4025T>C (p.Phe1342Ser) c.4013T>C (p.Phe1338Ser) c.3977T>C (p.Phe1326Ser) c.3998T>C (p.Phe1333Ser) c.2918T>C (p.Phe973Ser) c.5264T>C (p.Phe1755Ser) c.5237T>C (p.Phe1746Ser) c.5216T>C (p.Phe1739Ser) c.5204T>C (p.Phe1735Ser) c.4538T>C (p.Phe1513Ser) c.4010T>C (p.Phe1337Ser) c.5225T>C (p.Phe1742Ser) | |
19 | g.5210749A>T | CA403502128 | PTPRS | n.601T>A n.426T>A c.5291T>A (p.Phe1764Tyr) c.3950T>A (p.Phe1317Tyr) c.5177T>A (p.Phe1726Tyr) c.3962T>A (p.Phe1321Tyr) n.4232T>A c.5252T>A (p.Phe1751Tyr) c.5165T>A (p.Phe1722Tyr) c.3938T>A (p.Phe1313Tyr) c.5279T>A (p.Phe1760Tyr) c.5267T>A (p.Phe1756Tyr) c.5231T>A (p.Phe1744Tyr) c.5219T>A (p.Phe1740Tyr) c.5192T>A (p.Phe1731Tyr) c.4025T>A (p.Phe1342Tyr) c.4013T>A (p.Phe1338Tyr) c.3977T>A (p.Phe1326Tyr) c.3998T>A (p.Phe1333Tyr) c.2918T>A (p.Phe973Tyr) c.5264T>A (p.Phe1755Tyr) c.5237T>A (p.Phe1746Tyr) c.5216T>A (p.Phe1739Tyr) c.5204T>A (p.Phe1735Tyr) c.4538T>A (p.Phe1513Tyr) c.4010T>A (p.Phe1337Tyr) c.5225T>A (p.Phe1742Tyr) | gnomAD v4 |
19 | g.5210750A>C | CA403502129 | PTPRS | n.600T>G n.425T>G c.5290T>G (p.Phe1764Val) c.3949T>G (p.Phe1317Val) c.5176T>G (p.Phe1726Val) c.3961T>G (p.Phe1321Val) n.4231T>G c.5251T>G (p.Phe1751Val) c.5164T>G (p.Phe1722Val) c.3937T>G (p.Phe1313Val) c.5278T>G (p.Phe1760Val) c.5266T>G (p.Phe1756Val) c.5230T>G (p.Phe1744Val) c.5218T>G (p.Phe1740Val) c.5191T>G (p.Phe1731Val) c.4024T>G (p.Phe1342Val) c.4012T>G (p.Phe1338Val) c.3976T>G (p.Phe1326Val) c.3997T>G (p.Phe1333Val) c.2917T>G (p.Phe973Val) c.5263T>G (p.Phe1755Val) c.5236T>G (p.Phe1746Val) c.5215T>G (p.Phe1739Val) c.5203T>G (p.Phe1735Val) c.4537T>G (p.Phe1513Val) c.4009T>G (p.Phe1337Val) c.5224T>G (p.Phe1742Val) | |
19 | g.5210750A>G | CA403502131 | PTPRS | n.600T>C n.425T>C c.5290T>C (p.Phe1764Leu) c.3949T>C (p.Phe1317Leu) c.5176T>C (p.Phe1726Leu) c.3961T>C (p.Phe1321Leu) n.4231T>C c.5251T>C (p.Phe1751Leu) c.5164T>C (p.Phe1722Leu) c.3937T>C (p.Phe1313Leu) c.5278T>C (p.Phe1760Leu) c.5266T>C (p.Phe1756Leu) c.5230T>C (p.Phe1744Leu) c.5218T>C (p.Phe1740Leu) c.5191T>C (p.Phe1731Leu) c.4024T>C (p.Phe1342Leu) c.4012T>C (p.Phe1338Leu) c.3976T>C (p.Phe1326Leu) c.3997T>C (p.Phe1333Leu) c.2917T>C (p.Phe973Leu) c.5263T>C (p.Phe1755Leu) c.5236T>C (p.Phe1746Leu) c.5215T>C (p.Phe1739Leu) c.5203T>C (p.Phe1735Leu) c.4537T>C (p.Phe1513Leu) c.4009T>C (p.Phe1337Leu) c.5224T>C (p.Phe1742Leu) | |
19 | g.5210750A>T | CA403502133 | PTPRS | n.600T>A n.425T>A c.5290T>A (p.Phe1764Ile) c.3949T>A (p.Phe1317Ile) c.5176T>A (p.Phe1726Ile) c.3961T>A (p.Phe1321Ile) n.4231T>A c.5251T>A (p.Phe1751Ile) c.5164T>A (p.Phe1722Ile) c.3937T>A (p.Phe1313Ile) c.5278T>A (p.Phe1760Ile) c.5266T>A (p.Phe1756Ile) c.5230T>A (p.Phe1744Ile) c.5218T>A (p.Phe1740Ile) c.5191T>A (p.Phe1731Ile) c.4024T>A (p.Phe1342Ile) c.4012T>A (p.Phe1338Ile) c.3976T>A (p.Phe1326Ile) c.3997T>A (p.Phe1333Ile) c.2917T>A (p.Phe973Ile) c.5263T>A (p.Phe1755Ile) c.5236T>A (p.Phe1746Ile) c.5215T>A (p.Phe1739Ile) c.5203T>A (p.Phe1735Ile) c.4537T>A (p.Phe1513Ile) c.4009T>A (p.Phe1337Ile) c.5224T>A (p.Phe1742Ile) | |
19 | g.5210751G>A | CA9108780 | PTPRS | n.599C>T n.424C>T c.5289C>T (p.Asp1763=) c.3948C>T (p.Asp1316=) c.5175C>T (p.Asp1725=) c.3960C>T (p.Asp1320=) n.4230C>T c.5250C>T (p.Asp1750=) c.5163C>T (p.Asp1721=) c.3936C>T (p.Asp1312=) c.5277C>T (p.Asp1759=) c.5265C>T (p.Asp1755=) c.5229C>T (p.Asp1743=) c.5217C>T (p.Asp1739=) c.5190C>T (p.Asp1730=) c.4023C>T (p.Asp1341=) c.4011C>T (p.Asp1337=) c.3975C>T (p.Asp1325=) c.3996C>T (p.Asp1332=) c.2916C>T (p.Asp972=) c.5262C>T (p.Asp1754=) c.5235C>T (p.Asp1745=) c.5214C>T (p.Asp1738=) c.5202C>T (p.Asp1734=) c.4536C>T (p.Asp1512=) c.4008C>T (p.Asp1336=) c.5223C>T (p.Asp1741=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.5210751G>C | CA403502135 | PTPRS | n.599C>G n.424C>G c.5289C>G (p.Asp1763Glu) c.3948C>G (p.Asp1316Glu) c.5175C>G (p.Asp1725Glu) c.3960C>G (p.Asp1320Glu) n.4230C>G c.5250C>G (p.Asp1750Glu) c.5163C>G (p.Asp1721Glu) c.3936C>G (p.Asp1312Glu) c.5277C>G (p.Asp1759Glu) c.5265C>G (p.Asp1755Glu) c.5229C>G (p.Asp1743Glu) c.5217C>G (p.Asp1739Glu) c.5190C>G (p.Asp1730Glu) c.4023C>G (p.Asp1341Glu) c.4011C>G (p.Asp1337Glu) c.3975C>G (p.Asp1325Glu) c.3996C>G (p.Asp1332Glu) c.2916C>G (p.Asp972Glu) c.5262C>G (p.Asp1754Glu) c.5235C>G (p.Asp1745Glu) c.5214C>G (p.Asp1738Glu) c.5202C>G (p.Asp1734Glu) c.4536C>G (p.Asp1512Glu) c.4008C>G (p.Asp1336Glu) c.5223C>G (p.Asp1741Glu) | |
19 | g.5210751G= | CA2319812214 | PTPRS | n.599C= n.424C= c.5289C= (p.Asp1763=) c.3948C= (p.Asp1316=) c.5175C= (p.Asp1725=) c.3960C= (p.Asp1320=) n.4230C= c.5250C= (p.Asp1750=) c.5163C= (p.Asp1721=) c.3936C= (p.Asp1312=) c.5277C= (p.Asp1759=) c.5265C= (p.Asp1755=) c.5229C= (p.Asp1743=) c.5217C= (p.Asp1739=) c.5190C= (p.Asp1730=) c.4023C= (p.Asp1341=) c.4011C= (p.Asp1337=) c.3975C= (p.Asp1325=) c.3996C= (p.Asp1332=) c.2916C= (p.Asp972=) c.5262C= (p.Asp1754=) c.5235C= (p.Asp1745=) c.5214C= (p.Asp1738=) c.5202C= (p.Asp1734=) c.4536C= (p.Asp1512=) c.4008C= (p.Asp1336=) c.5223C= (p.Asp1741=) | |
19 | g.5210751G>T | CA403502137 | PTPRS | n.599C>A n.424C>A c.5289C>A (p.Asp1763Glu) c.3948C>A (p.Asp1316Glu) c.5175C>A (p.Asp1725Glu) c.3960C>A (p.Asp1320Glu) n.4230C>A c.5250C>A (p.Asp1750Glu) c.5163C>A (p.Asp1721Glu) c.3936C>A (p.Asp1312Glu) c.5277C>A (p.Asp1759Glu) c.5265C>A (p.Asp1755Glu) c.5229C>A (p.Asp1743Glu) c.5217C>A (p.Asp1739Glu) c.5190C>A (p.Asp1730Glu) c.4023C>A (p.Asp1341Glu) c.4011C>A (p.Asp1337Glu) c.3975C>A (p.Asp1325Glu) c.3996C>A (p.Asp1332Glu) c.2916C>A (p.Asp972Glu) c.5262C>A (p.Asp1754Glu) c.5235C>A (p.Asp1745Glu) c.5214C>A (p.Asp1738Glu) c.5202C>A (p.Asp1734Glu) c.4536C>A (p.Asp1512Glu) c.4008C>A (p.Asp1336Glu) c.5223C>A (p.Asp1741Glu) | |
19 | g.5210752T>A | CA403502142 | PTPRS | n.598A>T n.423A>T c.5288A>T (p.Asp1763Val) c.3947A>T (p.Asp1316Val) c.5174A>T (p.Asp1725Val) c.3959A>T (p.Asp1320Val) n.4229A>T c.5249A>T (p.Asp1750Val) c.5162A>T (p.Asp1721Val) c.3935A>T (p.Asp1312Val) c.5276A>T (p.Asp1759Val) c.5264A>T (p.Asp1755Val) c.5228A>T (p.Asp1743Val) c.5216A>T (p.Asp1739Val) c.5189A>T (p.Asp1730Val) c.4022A>T (p.Asp1341Val) c.4010A>T (p.Asp1337Val) c.3974A>T (p.Asp1325Val) c.3995A>T (p.Asp1332Val) c.2915A>T (p.Asp972Val) c.5261A>T (p.Asp1754Val) c.5234A>T (p.Asp1745Val) c.5213A>T (p.Asp1738Val) c.5201A>T (p.Asp1734Val) c.4535A>T (p.Asp1512Val) c.4007A>T (p.Asp1336Val) c.5222A>T (p.Asp1741Val) | |
19 | g.5210752T>C | CA403502140 | PTPRS | n.598A>G n.423A>G c.5288A>G (p.Asp1763Gly) c.3947A>G (p.Asp1316Gly) c.5174A>G (p.Asp1725Gly) c.3959A>G (p.Asp1320Gly) n.4229A>G c.5249A>G (p.Asp1750Gly) c.5162A>G (p.Asp1721Gly) c.3935A>G (p.Asp1312Gly) c.5276A>G (p.Asp1759Gly) c.5264A>G (p.Asp1755Gly) c.5228A>G (p.Asp1743Gly) c.5216A>G (p.Asp1739Gly) c.5189A>G (p.Asp1730Gly) c.4022A>G (p.Asp1341Gly) c.4010A>G (p.Asp1337Gly) c.3974A>G (p.Asp1325Gly) c.3995A>G (p.Asp1332Gly) c.2915A>G (p.Asp972Gly) c.5261A>G (p.Asp1754Gly) c.5234A>G (p.Asp1745Gly) c.5213A>G (p.Asp1738Gly) c.5201A>G (p.Asp1734Gly) c.4535A>G (p.Asp1512Gly) c.4007A>G (p.Asp1336Gly) c.5222A>G (p.Asp1741Gly) | |
19 | g.5210752T>G | CA403502139 | PTPRS | n.598A>C n.423A>C c.5288A>C (p.Asp1763Ala) c.3947A>C (p.Asp1316Ala) c.5174A>C (p.Asp1725Ala) c.3959A>C (p.Asp1320Ala) n.4229A>C c.5249A>C (p.Asp1750Ala) c.5162A>C (p.Asp1721Ala) c.3935A>C (p.Asp1312Ala) c.5276A>C (p.Asp1759Ala) c.5264A>C (p.Asp1755Ala) c.5228A>C (p.Asp1743Ala) c.5216A>C (p.Asp1739Ala) c.5189A>C (p.Asp1730Ala) c.4022A>C (p.Asp1341Ala) c.4010A>C (p.Asp1337Ala) c.3974A>C (p.Asp1325Ala) c.3995A>C (p.Asp1332Ala) c.2915A>C (p.Asp972Ala) c.5261A>C (p.Asp1754Ala) c.5234A>C (p.Asp1745Ala) c.5213A>C (p.Asp1738Ala) c.5201A>C (p.Asp1734Ala) c.4535A>C (p.Asp1512Ala) c.4007A>C (p.Asp1336Ala) c.5222A>C (p.Asp1741Ala) | |
19 | g.5210753C>A | CA403502144 | PTPRS | n.597G>T n.422G>T c.5287G>T (p.Asp1763Tyr) c.3946G>T (p.Asp1316Tyr) c.5173G>T (p.Asp1725Tyr) c.3958G>T (p.Asp1320Tyr) n.4228G>T c.5248G>T (p.Asp1750Tyr) c.5161G>T (p.Asp1721Tyr) c.3934G>T (p.Asp1312Tyr) c.5275G>T (p.Asp1759Tyr) c.5263G>T (p.Asp1755Tyr) c.5227G>T (p.Asp1743Tyr) c.5215G>T (p.Asp1739Tyr) c.5188G>T (p.Asp1730Tyr) c.4021G>T (p.Asp1341Tyr) c.4009G>T (p.Asp1337Tyr) c.3973G>T (p.Asp1325Tyr) c.3994G>T (p.Asp1332Tyr) c.2914G>T (p.Asp972Tyr) c.5260G>T (p.Asp1754Tyr) c.5233G>T (p.Asp1745Tyr) c.5212G>T (p.Asp1738Tyr) c.5200G>T (p.Asp1734Tyr) c.4534G>T (p.Asp1512Tyr) c.4006G>T (p.Asp1336Tyr) c.5221G>T (p.Asp1741Tyr) | |
19 | g.5210753C>G | CA403502146 | PTPRS | n.597G>C n.422G>C c.5287G>C (p.Asp1763His) c.3946G>C (p.Asp1316His) c.5173G>C (p.Asp1725His) c.3958G>C (p.Asp1320His) n.4228G>C c.5248G>C (p.Asp1750His) c.5161G>C (p.Asp1721His) c.3934G>C (p.Asp1312His) c.5275G>C (p.Asp1759His) c.5263G>C (p.Asp1755His) c.5227G>C (p.Asp1743His) c.5215G>C (p.Asp1739His) c.5188G>C (p.Asp1730His) c.4021G>C (p.Asp1341His) c.4009G>C (p.Asp1337His) c.3973G>C (p.Asp1325His) c.3994G>C (p.Asp1332His) c.2914G>C (p.Asp972His) c.5260G>C (p.Asp1754His) c.5233G>C (p.Asp1745His) c.5212G>C (p.Asp1738His) c.5200G>C (p.Asp1734His) c.4534G>C (p.Asp1512His) c.4006G>C (p.Asp1336His) c.5221G>C (p.Asp1741His) | |
19 | g.5210753C>T | CA403502147 | PTPRS | n.597G>A n.422G>A c.5287G>A (p.Asp1763Asn) c.3946G>A (p.Asp1316Asn) c.5173G>A (p.Asp1725Asn) c.3958G>A (p.Asp1320Asn) n.4228G>A c.5248G>A (p.Asp1750Asn) c.5161G>A (p.Asp1721Asn) c.3934G>A (p.Asp1312Asn) c.5275G>A (p.Asp1759Asn) c.5263G>A (p.Asp1755Asn) c.5227G>A (p.Asp1743Asn) c.5215G>A (p.Asp1739Asn) c.5188G>A (p.Asp1730Asn) c.4021G>A (p.Asp1341Asn) c.4009G>A (p.Asp1337Asn) c.3973G>A (p.Asp1325Asn) c.3994G>A (p.Asp1332Asn) c.2914G>A (p.Asp972Asn) c.5260G>A (p.Asp1754Asn) c.5233G>A (p.Asp1745Asn) c.5212G>A (p.Asp1738Asn) c.5200G>A (p.Asp1734Asn) c.4534G>A (p.Asp1512Asn) c.4006G>A (p.Asp1336Asn) c.5221G>A (p.Asp1741Asn) | |
19 | g.5210754T>A | CA403502148 | PTPRS | n.596A>T n.421A>T c.5286A>T (p.Glu1762Asp) c.3945A>T (p.Glu1315Asp) c.5172A>T (p.Glu1724Asp) c.3957A>T (p.Glu1319Asp) n.4227A>T c.5247A>T (p.Glu1749Asp) c.5160A>T (p.Glu1720Asp) c.3933A>T (p.Glu1311Asp) c.5274A>T (p.Glu1758Asp) c.5262A>T (p.Glu1754Asp) c.5226A>T (p.Glu1742Asp) c.5214A>T (p.Glu1738Asp) c.5187A>T (p.Glu1729Asp) c.4020A>T (p.Glu1340Asp) c.4008A>T (p.Glu1336Asp) c.3972A>T (p.Glu1324Asp) c.3993A>T (p.Glu1331Asp) c.2913A>T (p.Glu971Asp) c.5259A>T (p.Glu1753Asp) c.5232A>T (p.Glu1744Asp) c.5211A>T (p.Glu1737Asp) c.5199A>T (p.Glu1733Asp) c.4533A>T (p.Glu1511Asp) c.4005A>T (p.Glu1335Asp) c.5220A>T (p.Glu1740Asp) | |
19 | g.5210754T>C | CA505177069 | PTPRS | n.596A>G n.421A>G c.5286A>G (p.Glu1762=) c.3945A>G (p.Glu1315=) c.5172A>G (p.Glu1724=) c.3957A>G (p.Glu1319=) n.4227A>G c.5247A>G (p.Glu1749=) c.5160A>G (p.Glu1720=) c.3933A>G (p.Glu1311=) c.5274A>G (p.Glu1758=) c.5262A>G (p.Glu1754=) c.5226A>G (p.Glu1742=) c.5214A>G (p.Glu1738=) c.5187A>G (p.Glu1729=) c.4020A>G (p.Glu1340=) c.4008A>G (p.Glu1336=) c.3972A>G (p.Glu1324=) c.3993A>G (p.Glu1331=) c.2913A>G (p.Glu971=) c.5259A>G (p.Glu1753=) c.5232A>G (p.Glu1744=) c.5211A>G (p.Glu1737=) c.5199A>G (p.Glu1733=) c.4533A>G (p.Glu1511=) c.4005A>G (p.Glu1335=) c.5220A>G (p.Glu1740=) | |
19 | g.5210754T>G | CA403502149 | PTPRS | n.596A>C n.421A>C c.5286A>C (p.Glu1762Asp) c.3945A>C (p.Glu1315Asp) c.5172A>C (p.Glu1724Asp) c.3957A>C (p.Glu1319Asp) n.4227A>C c.5247A>C (p.Glu1749Asp) c.5160A>C (p.Glu1720Asp) c.3933A>C (p.Glu1311Asp) c.5274A>C (p.Glu1758Asp) c.5262A>C (p.Glu1754Asp) c.5226A>C (p.Glu1742Asp) c.5214A>C (p.Glu1738Asp) c.5187A>C (p.Glu1729Asp) c.4020A>C (p.Glu1340Asp) c.4008A>C (p.Glu1336Asp) c.3972A>C (p.Glu1324Asp) c.3993A>C (p.Glu1331Asp) c.2913A>C (p.Glu971Asp) c.5259A>C (p.Glu1753Asp) c.5232A>C (p.Glu1744Asp) c.5211A>C (p.Glu1737Asp) c.5199A>C (p.Glu1733Asp) c.4533A>C (p.Glu1511Asp) c.4005A>C (p.Glu1335Asp) c.5220A>C (p.Glu1740Asp) | |
19 | g.5210755T>A | CA403502150 | PTPRS | n.595A>T n.420A>T c.5285A>T (p.Glu1762Val) c.3944A>T (p.Glu1315Val) c.5171A>T (p.Glu1724Val) c.3956A>T (p.Glu1319Val) n.4226A>T c.5246A>T (p.Glu1749Val) c.5159A>T (p.Glu1720Val) c.3932A>T (p.Glu1311Val) c.5273A>T (p.Glu1758Val) c.5261A>T (p.Glu1754Val) c.5225A>T (p.Glu1742Val) c.5213A>T (p.Glu1738Val) c.5186A>T (p.Glu1729Val) c.4019A>T (p.Glu1340Val) c.4007A>T (p.Glu1336Val) c.3971A>T (p.Glu1324Val) c.3992A>T (p.Glu1331Val) c.2912A>T (p.Glu971Val) c.5258A>T (p.Glu1753Val) c.5231A>T (p.Glu1744Val) c.5210A>T (p.Glu1737Val) c.5198A>T (p.Glu1733Val) c.4532A>T (p.Glu1511Val) c.4004A>T (p.Glu1335Val) c.5219A>T (p.Glu1740Val) | |
19 | g.5210755T>C | CA403502151 | PTPRS | n.595A>G n.420A>G c.5285A>G (p.Glu1762Gly) c.3944A>G (p.Glu1315Gly) c.5171A>G (p.Glu1724Gly) c.3956A>G (p.Glu1319Gly) n.4226A>G c.5246A>G (p.Glu1749Gly) c.5159A>G (p.Glu1720Gly) c.3932A>G (p.Glu1311Gly) c.5273A>G (p.Glu1758Gly) c.5261A>G (p.Glu1754Gly) c.5225A>G (p.Glu1742Gly) c.5213A>G (p.Glu1738Gly) c.5186A>G (p.Glu1729Gly) c.4019A>G (p.Glu1340Gly) c.4007A>G (p.Glu1336Gly) c.3971A>G (p.Glu1324Gly) c.3992A>G (p.Glu1331Gly) c.2912A>G (p.Glu971Gly) c.5258A>G (p.Glu1753Gly) c.5231A>G (p.Glu1744Gly) c.5210A>G (p.Glu1737Gly) c.5198A>G (p.Glu1733Gly) c.4532A>G (p.Glu1511Gly) c.4004A>G (p.Glu1335Gly) c.5219A>G (p.Glu1740Gly) | |
19 | g.5210755T>G | CA403502152 | PTPRS | n.595A>C n.420A>C c.5285A>C (p.Glu1762Ala) c.3944A>C (p.Glu1315Ala) c.5171A>C (p.Glu1724Ala) c.3956A>C (p.Glu1319Ala) n.4226A>C c.5246A>C (p.Glu1749Ala) c.5159A>C (p.Glu1720Ala) c.3932A>C (p.Glu1311Ala) c.5273A>C (p.Glu1758Ala) c.5261A>C (p.Glu1754Ala) c.5225A>C (p.Glu1742Ala) c.5213A>C (p.Glu1738Ala) c.5186A>C (p.Glu1729Ala) c.4019A>C (p.Glu1340Ala) c.4007A>C (p.Glu1336Ala) c.3971A>C (p.Glu1324Ala) c.3992A>C (p.Glu1331Ala) c.2912A>C (p.Glu971Ala) c.5258A>C (p.Glu1753Ala) c.5231A>C (p.Glu1744Ala) c.5210A>C (p.Glu1737Ala) c.5198A>C (p.Glu1733Ala) c.4532A>C (p.Glu1511Ala) c.4004A>C (p.Glu1335Ala) c.5219A>C (p.Glu1740Ala) | gnomAD v4 |
19 | g.5210756C>A | CA403502153 | PTPRS | n.594G>T n.419G>T c.5284G>T (p.Glu1762Ter) c.3943G>T (p.Glu1315Ter) c.5170G>T (p.Glu1724Ter) c.3955G>T (p.Glu1319Ter) n.4225G>T c.5245G>T (p.Glu1749Ter) c.5158G>T (p.Glu1720Ter) c.3931G>T (p.Glu1311Ter) c.5272G>T (p.Glu1758Ter) c.5260G>T (p.Glu1754Ter) c.5224G>T (p.Glu1742Ter) c.5212G>T (p.Glu1738Ter) c.5185G>T (p.Glu1729Ter) c.4018G>T (p.Glu1340Ter) c.4006G>T (p.Glu1336Ter) c.3970G>T (p.Glu1324Ter) c.3991G>T (p.Glu1331Ter) c.2911G>T (p.Glu971Ter) c.5257G>T (p.Glu1753Ter) c.5230G>T (p.Glu1744Ter) c.5209G>T (p.Glu1737Ter) c.5197G>T (p.Glu1733Ter) c.4531G>T (p.Glu1511Ter) c.4003G>T (p.Glu1335Ter) c.5218G>T (p.Glu1740Ter) | |
19 | g.5210756C>G | CA403502154 | PTPRS | n.594G>C n.419G>C c.5284G>C (p.Glu1762Gln) c.3943G>C (p.Glu1315Gln) c.5170G>C (p.Glu1724Gln) c.3955G>C (p.Glu1319Gln) n.4225G>C c.5245G>C (p.Glu1749Gln) c.5158G>C (p.Glu1720Gln) c.3931G>C (p.Glu1311Gln) c.5272G>C (p.Glu1758Gln) c.5260G>C (p.Glu1754Gln) c.5224G>C (p.Glu1742Gln) c.5212G>C (p.Glu1738Gln) c.5185G>C (p.Glu1729Gln) c.4018G>C (p.Glu1340Gln) c.4006G>C (p.Glu1336Gln) c.3970G>C (p.Glu1324Gln) c.3991G>C (p.Glu1331Gln) c.2911G>C (p.Glu971Gln) c.5257G>C (p.Glu1753Gln) c.5230G>C (p.Glu1744Gln) c.5209G>C (p.Glu1737Gln) c.5197G>C (p.Glu1733Gln) c.4531G>C (p.Glu1511Gln) c.4003G>C (p.Glu1335Gln) c.5218G>C (p.Glu1740Gln) | |
19 | g.5210756C>T | CA403502155 | PTPRS | n.594G>A n.419G>A c.5284G>A (p.Glu1762Lys) c.3943G>A (p.Glu1315Lys) c.5170G>A (p.Glu1724Lys) c.3955G>A (p.Glu1319Lys) n.4225G>A c.5245G>A (p.Glu1749Lys) c.5158G>A (p.Glu1720Lys) c.3931G>A (p.Glu1311Lys) c.5272G>A (p.Glu1758Lys) c.5260G>A (p.Glu1754Lys) c.5224G>A (p.Glu1742Lys) c.5212G>A (p.Glu1738Lys) c.5185G>A (p.Glu1729Lys) c.4018G>A (p.Glu1340Lys) c.4006G>A (p.Glu1336Lys) c.3970G>A (p.Glu1324Lys) c.3991G>A (p.Glu1331Lys) c.2911G>A (p.Glu971Lys) c.5257G>A (p.Glu1753Lys) c.5230G>A (p.Glu1744Lys) c.5209G>A (p.Glu1737Lys) c.5197G>A (p.Glu1733Lys) c.4531G>A (p.Glu1511Lys) c.4003G>A (p.Glu1335Lys) c.5218G>A (p.Glu1740Lys) |