UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.95844482A>C | CA377822578 | ENTPD1,ENTPD1-AS1 | c.420A>C (p.Glu140Asp) c.269A>C (p.Lys90Thr) n.405A>C c.456A>C (p.Glu152Asp) c.441A>C (p.Glu147Asp) c.90-73A>C (n.90-73A>C) n.403A>C n.557A>C c.6A>C (p.Glu2Asp) c.96A>C (p.Glu32Asp) c.151A>C (p.Lys51Gln) n.273A>C n.533+2910T>G c.477A>C (p.Glu159Asp) | |
| 10 | g.95844482A>G | CA471197443 | ENTPD1,ENTPD1-AS1 | c.420A>G (p.Glu140=) c.269A>G (p.Lys90Arg) n.405A>G c.456A>G (p.Glu152=) c.441A>G (p.Glu147=) c.90-73A>G (n.90-73A>G) n.403A>G n.557A>G c.6A>G (p.Glu2=) c.96A>G (p.Glu32=) c.151A>G (p.Lys51Glu) n.273A>G n.533+2910T>C c.477A>G (p.Glu159=) | |
| 10 | g.95844482A>T | CA377822579 | ENTPD1,ENTPD1-AS1 | c.420A>T (p.Glu140Asp) c.269A>T (p.Lys90Ile) n.405A>T c.456A>T (p.Glu152Asp) c.441A>T (p.Glu147Asp) c.90-73A>T (n.90-73A>T) n.403A>T n.557A>T c.6A>T (p.Glu2Asp) c.96A>T (p.Glu32Asp) c.151A>T (p.Lys51Ter) n.273A>T n.533+2910T>A c.477A>T (p.Glu159Asp) | |
| 10 | g.95844483A>C | CA377822580 | ENTPD1,ENTPD1-AS1 | c.421A>C (p.Ser141Arg) c.270A>C (p.Lys90Asn) n.406A>C c.457A>C (p.Ser153Arg) c.442A>C (p.Ser148Arg) c.90-72A>C (n.90-72A>C) n.404A>C n.558A>C c.7A>C (p.Ser3Arg) c.97A>C (p.Ser33Arg) c.152A>C (p.Lys51Thr) n.274A>C n.533+2909T>G c.478A>C (p.Ser160Arg) | |
| 10 | g.95844483A>G | CA377822581 | ENTPD1,ENTPD1-AS1 | c.421A>G (p.Ser141Gly) c.270A>G (p.Lys90=) n.406A>G c.457A>G (p.Ser153Gly) c.442A>G (p.Ser148Gly) c.90-72A>G (n.90-72A>G) n.404A>G n.558A>G c.7A>G (p.Ser3Gly) c.97A>G (p.Ser33Gly) c.152A>G (p.Lys51Arg) n.274A>G n.533+2909T>C c.478A>G (p.Ser160Gly) | |
| 10 | g.95844483A>T | CA377822582 | ENTPD1,ENTPD1-AS1 | c.421A>T (p.Ser141Cys) c.270A>T (p.Lys90Asn) n.406A>T c.457A>T (p.Ser153Cys) c.442A>T (p.Ser148Cys) c.90-72A>T (n.90-72A>T) n.404A>T n.558A>T c.7A>T (p.Ser3Cys) c.97A>T (p.Ser33Cys) c.152A>T (p.Lys51Met) n.274A>T n.533+2909T>A c.478A>T (p.Ser160Cys) | |
| 10 | g.95844484G>A | CA377822584 | ENTPD1,ENTPD1-AS1 | c.422G>A (p.Ser141Asn) c.271G>A (p.Val91Met) n.407G>A c.458G>A (p.Ser153Asn) c.443G>A (p.Ser148Asn) c.90-71G>A (n.90-71G>A) n.405G>A n.559G>A c.8G>A (p.Ser3Asn) c.98G>A (p.Ser33Asn) c.153G>A (p.Lys51=) n.275G>A n.533+2908C>T c.479G>A (p.Ser160Asn) | |
| 10 | g.95844484G>C | CA377822585 | ENTPD1,ENTPD1-AS1 | c.422G>C (p.Ser141Thr) c.271G>C (p.Val91Leu) n.407G>C c.458G>C (p.Ser153Thr) c.443G>C (p.Ser148Thr) c.90-71G>C (n.90-71G>C) n.405G>C n.559G>C c.8G>C (p.Ser3Thr) c.98G>C (p.Ser33Thr) c.153G>C (p.Lys51Asn) n.275G>C n.533+2908C>G c.479G>C (p.Ser160Thr) | |
| 10 | g.95844484G>T | CA377822583 | ENTPD1,ENTPD1-AS1 | c.422G>T (p.Ser141Ile) c.271G>T (p.Val91Leu) n.407G>T c.458G>T (p.Ser153Ile) c.443G>T (p.Ser148Ile) c.90-71G>T (n.90-71G>T) n.405G>T n.559G>T c.8G>T (p.Ser3Ile) c.98G>T (p.Ser33Ile) c.153G>T (p.Lys51Asn) n.275G>T n.533+2908C>A c.479G>T (p.Ser160Ile) | |
| 10 | g.95844485T>A | CA377822586 | ENTPD1,ENTPD1-AS1 | c.423T>A (p.Ser141Arg) c.272T>A (p.Val91Glu) n.408T>A c.459T>A (p.Ser153Arg) c.444T>A (p.Ser148Arg) c.90-70T>A (n.90-70T>A) n.406T>A n.560T>A c.9T>A (p.Ser3Arg) c.99T>A (p.Ser33Arg) c.154T>A (p.Ter52Arg) n.276T>A n.533+2907A>T c.480T>A (p.Ser160Arg) | gnomAD v4 |
| 10 | g.95844485T>C | CA471197458 | ENTPD1,ENTPD1-AS1 | c.423T>C (p.Ser141=) c.272T>C (p.Val91Ala) n.408T>C c.459T>C (p.Ser153=) c.444T>C (p.Ser148=) c.90-70T>C (n.90-70T>C) n.406T>C n.560T>C c.9T>C (p.Ser3=) c.99T>C (p.Ser33=) c.154T>C (p.Ter52Arg) n.276T>C n.533+2907A>G c.480T>C (p.Ser160=) | |
| 10 | g.95844485T>G | CA377822587 | ENTPD1,ENTPD1-AS1 | c.423T>G (p.Ser141Arg) c.272T>G (p.Val91Gly) n.408T>G c.459T>G (p.Ser153Arg) c.444T>G (p.Ser148Arg) c.90-70T>G (n.90-70T>G) n.406T>G n.560T>G c.9T>G (p.Ser3Arg) c.99T>G (p.Ser33Arg) c.154T>G (p.Ter52Gly) n.276T>G n.533+2907A>C c.480T>G (p.Ser160Arg) | |
| 10 | g.95844486G>A | CA377822588 | ENTPD1,ENTPD1-AS1 | c.424G>A (p.Glu142Lys) c.273G>A (p.Val91=) n.409G>A c.460G>A (p.Glu154Lys) c.445G>A (p.Glu149Lys) c.90-69G>A (n.90-69G>A) n.407G>A n.561G>A c.10G>A (p.Glu4Lys) c.100G>A (p.Glu34Lys) c.155G>A (p.Ter52=) n.277G>A n.533+2906C>T c.481G>A (p.Glu161Lys) | |
| 10 | g.95844486G>C | CA5621402 | ENTPD1,ENTPD1-AS1 | c.424G>C (p.Glu142Gln) c.273G>C (p.Val91=) n.409G>C c.460G>C (p.Glu154Gln) c.445G>C (p.Glu149Gln) c.90-69G>C (n.90-69G>C) n.407G>C n.561G>C c.10G>C (p.Glu4Gln) c.100G>C (p.Glu34Gln) c.155G>C (p.Ter52Ser) n.277G>C n.533+2906C>G c.481G>C (p.Glu161Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.95844486G= | CA1929710229 | ENTPD1,ENTPD1-AS1 | c.424G= (p.Glu142=) c.273G= (p.Val91=) n.409G= c.460G= (p.Glu154=) c.445G= (p.Glu149=) c.90-69G= (n.90-69G=) n.407G= n.561G= c.10G= (p.Glu4=) c.100G= (p.Glu34=) c.155G= (p.Ter52=) n.277G= n.533+2906C= c.481G= (p.Glu161=) | |
| 10 | g.95844486G>T | CA377822589 | ENTPD1,ENTPD1-AS1 | c.424G>T (p.Glu142Ter) c.273G>T (p.Val91=) n.409G>T c.460G>T (p.Glu154Ter) c.445G>T (p.Glu149Ter) c.90-69G>T (n.90-69G>T) n.407G>T n.561G>T c.10G>T (p.Glu4Ter) c.100G>T (p.Glu34Ter) c.155G>T (p.Ter52Leu) n.277G>T n.533+2906C>A c.481G>T (p.Glu161Ter) | |
| 10 | g.95844488_95844490del | CA2610298587 | ENTPD1,ENTPD1-AS1 | c.426_428del (p.Glu143del) c.275_277del (p.Lys92del) n.411_413del c.462_464del (p.Glu155del) c.447_449del (p.Glu150del) c.90-67_90-65del (n.90-67_90-65del) n.409_411del n.563_565del c.12_14del (p.Glu5del) c.102_104del (p.Glu35del) c.*1_*3del (n.*1_*3del) n.279_281del n.533+2904_533+2906del c.483_485del (p.Glu162del) | gnomAD v4 |
| 10 | g.95844487A>C | CA377822590 | ENTPD1,ENTPD1-AS1 | c.425A>C (p.Glu142Ala) c.274A>C (p.Lys92Gln) n.410A>C c.461A>C (p.Glu154Ala) c.446A>C (p.Glu149Ala) c.90-68A>C (n.90-68A>C) n.408A>C n.562A>C c.11A>C (p.Glu4Ala) c.101A>C (p.Glu34Ala) c.156A>C (p.Ter52Cys) n.278A>C n.533+2905T>G c.482A>C (p.Glu161Ala) | |
| 10 | g.95844487A>G | CA377822591 | ENTPD1,ENTPD1-AS1 | c.425A>G (p.Glu142Gly) c.274A>G (p.Lys92Glu) n.410A>G c.461A>G (p.Glu154Gly) c.446A>G (p.Glu149Gly) c.90-68A>G (n.90-68A>G) n.408A>G n.562A>G c.11A>G (p.Glu4Gly) c.101A>G (p.Glu34Gly) c.156A>G (p.Ter52Trp) n.278A>G n.533+2905T>C c.482A>G (p.Glu161Gly) | |
| 10 | g.95844487A>T | CA377822592 | ENTPD1,ENTPD1-AS1 | c.425A>T (p.Glu142Val) c.274A>T (p.Lys92Ter) n.410A>T c.461A>T (p.Glu154Val) c.446A>T (p.Glu149Val) c.90-68A>T (n.90-68A>T) n.408A>T n.562A>T c.11A>T (p.Glu4Val) c.101A>T (p.Glu34Val) c.156A>T (p.Ter52Cys) n.278A>T n.533+2905T>A c.482A>T (p.Glu161Val) | |
| 10 | g.95844488A>C | CA377822593 | ENTPD1,ENTPD1-AS1 | c.426A>C (p.Glu142Asp) c.275A>C (p.Lys92Thr) n.411A>C c.462A>C (p.Glu154Asp) c.447A>C (p.Glu149Asp) c.90-67A>C (n.90-67A>C) n.409A>C n.563A>C c.12A>C (p.Glu4Asp) c.102A>C (p.Glu34Asp) c.*1A>C (n.*1A>C) n.279A>C n.533+2904T>G c.483A>C (p.Glu161Asp) | |
| 10 | g.95844488A>G | CA471197489 | ENTPD1,ENTPD1-AS1 | c.426A>G (p.Glu142=) c.275A>G (p.Lys92Arg) n.411A>G c.462A>G (p.Glu154=) c.447A>G (p.Glu149=) c.90-67A>G (n.90-67A>G) n.409A>G n.563A>G c.12A>G (p.Glu4=) c.102A>G (p.Glu34=) c.*1A>G (n.*1A>G) n.279A>G n.533+2904T>C c.483A>G (p.Glu161=) | |
| 10 | g.95844488A>T | CA377822594 | ENTPD1,ENTPD1-AS1 | c.426A>T (p.Glu142Asp) c.275A>T (p.Lys92Met) n.411A>T c.462A>T (p.Glu154Asp) c.447A>T (p.Glu149Asp) c.90-67A>T (n.90-67A>T) n.409A>T n.563A>T c.12A>T (p.Glu4Asp) c.102A>T (p.Glu34Asp) c.*1A>T (n.*1A>T) n.279A>T n.533+2904T>A c.483A>T (p.Glu161Asp) | |
| 10 | g.95844489G>A | CA377822595 | ENTPD1,ENTPD1-AS1 | c.427G>A (p.Glu143Lys) c.276G>A (p.Lys92=) n.412G>A c.463G>A (p.Glu155Lys) c.448G>A (p.Glu150Lys) c.90-66G>A (n.90-66G>A) n.410G>A n.564G>A c.13G>A (p.Glu5Lys) c.103G>A (p.Glu35Lys) c.*2G>A (n.*2G>A) n.280G>A n.533+2903C>T c.484G>A (p.Glu162Lys) | |
| 10 | g.95844489G>C | CA377822596 | ENTPD1,ENTPD1-AS1 | c.427G>C (p.Glu143Gln) c.276G>C (p.Lys92Asn) n.412G>C c.463G>C (p.Glu155Gln) c.448G>C (p.Glu150Gln) c.90-66G>C (n.90-66G>C) n.410G>C n.564G>C c.13G>C (p.Glu5Gln) c.103G>C (p.Glu35Gln) c.*2G>C (n.*2G>C) n.280G>C n.533+2903C>G c.484G>C (p.Glu162Gln) | |
| 10 | g.95844489G>T | CA377822597 | ENTPD1,ENTPD1-AS1 | c.427G>T (p.Glu143Ter) c.276G>T (p.Lys92Asn) n.412G>T c.463G>T (p.Glu155Ter) c.448G>T (p.Glu150Ter) c.90-66G>T (n.90-66G>T) n.410G>T n.564G>T c.13G>T (p.Glu5Ter) c.103G>T (p.Glu35Ter) c.*2G>T (n.*2G>T) n.280G>T n.533+2903C>A c.484G>T (p.Glu162Ter) | |
| 10 | g.95844490A= | CA1929710234 | ENTPD1,ENTPD1-AS1 | c.428A= (p.Glu143=) c.277A= (p.Ser93=) n.413A= c.464A= (p.Glu155=) c.449A= (p.Glu150=) c.90-65A= (n.90-65A=) n.411A= n.565A= c.14A= (p.Glu5=) c.104A= (p.Glu35=) c.*3A= (n.*3A=) n.281A= n.533+2902T= c.485A= (p.Glu162=) | |
| 10 | g.95844490A>C | CA377822600 | ENTPD1,ENTPD1-AS1 | c.428A>C (p.Glu143Ala) c.277A>C (p.Ser93Arg) n.413A>C c.464A>C (p.Glu155Ala) c.449A>C (p.Glu150Ala) c.90-65A>C (n.90-65A>C) n.411A>C n.565A>C c.14A>C (p.Glu5Ala) c.104A>C (p.Glu35Ala) c.*3A>C (n.*3A>C) n.281A>C n.533+2902T>G c.485A>C (p.Glu162Ala) | |
| 10 | g.95844490A>G | CA377822598 | ENTPD1,ENTPD1-AS1 | c.428A>G (p.Glu143Gly) c.277A>G (p.Ser93Gly) n.413A>G c.464A>G (p.Glu155Gly) c.449A>G (p.Glu150Gly) c.90-65A>G (n.90-65A>G) n.411A>G n.565A>G c.14A>G (p.Glu5Gly) c.104A>G (p.Glu35Gly) c.*3A>G (n.*3A>G) n.281A>G n.533+2902T>C c.485A>G (p.Glu162Gly) | dbSNP |
| 10 | g.95844490A>T | CA377822599 | ENTPD1,ENTPD1-AS1 | c.428A>T (p.Glu143Val) c.277A>T (p.Ser93Cys) n.413A>T c.464A>T (p.Glu155Val) c.449A>T (p.Glu150Val) c.90-65A>T (n.90-65A>T) n.411A>T n.565A>T c.14A>T (p.Glu5Val) c.104A>T (p.Glu35Val) c.*3A>T (n.*3A>T) n.281A>T n.533+2902T>A c.485A>T (p.Glu162Val) | |
| 10 | g.95844491G>A | CA471197499 | ENTPD1,ENTPD1-AS1 | c.429G>A (p.Glu143=) c.278G>A (p.Ser93Asn) n.414G>A c.465G>A (p.Glu155=) c.450G>A (p.Glu150=) c.90-64G>A (n.90-64G>A) n.412G>A n.566G>A c.15G>A (p.Glu5=) c.105G>A (p.Glu35=) c.*4G>A (n.*4G>A) n.282G>A n.533+2901C>T c.486G>A (p.Glu162=) | |
| 10 | g.95844491G>C | CA377822601 | ENTPD1,ENTPD1-AS1 | c.429G>C (p.Glu143Asp) c.278G>C (p.Ser93Thr) n.414G>C c.465G>C (p.Glu155Asp) c.450G>C (p.Glu150Asp) c.90-64G>C (n.90-64G>C) n.412G>C n.566G>C c.15G>C (p.Glu5Asp) c.105G>C (p.Glu35Asp) c.*4G>C (n.*4G>C) n.282G>C n.533+2901C>G c.486G>C (p.Glu162Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.95844491G= | CA1929710237 | ENTPD1,ENTPD1-AS1 | c.429G= (p.Glu143=) c.278G= (p.Ser93=) n.414G= c.465G= (p.Glu155=) c.450G= (p.Glu150=) c.90-64G= (n.90-64G=) n.412G= n.566G= c.15G= (p.Glu5=) c.105G= (p.Glu35=) c.*4G= (n.*4G=) n.282G= n.533+2901C= c.486G= (p.Glu162=) | |
| 10 | g.95844491G>T | CA377822602 | ENTPD1,ENTPD1-AS1 | c.429G>T (p.Glu143Asp) c.278G>T (p.Ser93Ile) n.414G>T c.465G>T (p.Glu155Asp) c.450G>T (p.Glu150Asp) c.90-64G>T (n.90-64G>T) n.412G>T n.566G>T c.15G>T (p.Glu5Asp) c.105G>T (p.Glu35Asp) c.*4G>T (n.*4G>T) n.282G>T n.533+2901C>A c.486G>T (p.Glu162Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.95844492T>A | CA377822603 | ENTPD1,ENTPD1-AS1 | c.430T>A (p.Leu144Met) c.279T>A (p.Ser93Arg) n.415T>A c.466T>A (p.Leu156Met) c.451T>A (p.Leu151Met) c.90-63T>A (n.90-63T>A) n.413T>A n.567T>A c.16T>A (p.Leu6Met) c.106T>A (p.Leu36Met) c.*5T>A (n.*5T>A) n.283T>A n.533+2900A>T c.487T>A (p.Leu163Met) | |
| 10 | g.95844492T>C | CA471197501 | ENTPD1,ENTPD1-AS1 | c.430T>C (p.Leu144=) c.279T>C (p.Ser93=) n.415T>C c.466T>C (p.Leu156=) c.451T>C (p.Leu151=) c.90-63T>C (n.90-63T>C) n.413T>C n.567T>C c.16T>C (p.Leu6=) c.106T>C (p.Leu36=) c.*5T>C (n.*5T>C) n.283T>C n.533+2900A>G c.487T>C (p.Leu163=) | dbSNP |
| 10 | g.95844492T>G | CA377822604 | ENTPD1,ENTPD1-AS1 | c.430T>G (p.Leu144Val) c.279T>G (p.Ser93Arg) n.415T>G c.466T>G (p.Leu156Val) c.451T>G (p.Leu151Val) c.90-63T>G (n.90-63T>G) n.413T>G n.567T>G c.16T>G (p.Leu6Val) c.106T>G (p.Leu36Val) c.*5T>G (n.*5T>G) n.283T>G n.533+2900A>C c.487T>G (p.Leu163Val) | |
| 10 | g.95844492T= | CA1929710239 | ENTPD1,ENTPD1-AS1 | c.430T= (p.Leu144=) c.279T= (p.Ser93=) n.415T= c.466T= (p.Leu156=) c.451T= (p.Leu151=) c.90-63T= (n.90-63T=) n.413T= n.567T= c.16T= (p.Leu6=) c.106T= (p.Leu36=) c.*5T= (n.*5T=) n.283T= n.533+2900A= c.487T= (p.Leu163=) | |
| 10 | g.95844493T>A | CA377822605 | ENTPD1,ENTPD1-AS1 | c.431T>A (p.Leu144Ter) c.280T>A (p.Trp94Arg) n.416T>A c.467T>A (p.Leu156Ter) c.452T>A (p.Leu151Ter) c.90-62T>A (n.90-62T>A) n.414T>A n.568T>A c.17T>A (p.Leu6Ter) c.107T>A (p.Leu36Ter) c.*6T>A (n.*6T>A) n.284T>A n.533+2899A>T c.488T>A (p.Leu163Ter) | |
| 10 | g.95844493T>C | CA377822606 | ENTPD1,ENTPD1-AS1 | c.431T>C (p.Leu144Ser) c.280T>C (p.Trp94Arg) n.416T>C c.467T>C (p.Leu156Ser) c.452T>C (p.Leu151Ser) c.90-62T>C (n.90-62T>C) n.414T>C n.568T>C c.17T>C (p.Leu6Ser) c.107T>C (p.Leu36Ser) c.*6T>C (n.*6T>C) n.284T>C n.533+2899A>G c.488T>C (p.Leu163Ser) | |
| 10 | g.95844493T>G | CA377822607 | ENTPD1,ENTPD1-AS1 | c.431T>G (p.Leu144Trp) c.280T>G (p.Trp94Gly) n.416T>G c.467T>G (p.Leu156Trp) c.452T>G (p.Leu151Trp) c.90-62T>G (n.90-62T>G) n.414T>G n.568T>G c.17T>G (p.Leu6Trp) c.107T>G (p.Leu36Trp) c.*6T>G (n.*6T>G) n.284T>G n.533+2899A>C c.488T>G (p.Leu163Trp) | |
| 10 | g.95844494G>A | CA471197507 | ENTPD1,ENTPD1-AS1 | c.432G>A (p.Leu144=) c.281G>A (p.Trp94Ter) n.417G>A c.468G>A (p.Leu156=) c.453G>A (p.Leu151=) c.90-61G>A (n.90-61G>A) n.415G>A n.569G>A c.18G>A (p.Leu6=) c.108G>A (p.Leu36=) c.*7G>A (n.*7G>A) n.285G>A n.533+2898C>T c.489G>A (p.Leu163=) | |
| 10 | g.95844494G>C | CA377822608 | ENTPD1,ENTPD1-AS1 | c.432G>C (p.Leu144Phe) c.281G>C (p.Trp94Ser) n.417G>C c.468G>C (p.Leu156Phe) c.453G>C (p.Leu151Phe) c.90-61G>C (n.90-61G>C) n.415G>C n.569G>C c.18G>C (p.Leu6Phe) c.108G>C (p.Leu36Phe) c.*7G>C (n.*7G>C) n.285G>C n.533+2898C>G c.489G>C (p.Leu163Phe) | gnomAD v4 |
| 10 | g.95844494G>T | CA377822609 | ENTPD1,ENTPD1-AS1 | c.432G>T (p.Leu144Phe) c.281G>T (p.Trp94Leu) n.417G>T c.468G>T (p.Leu156Phe) c.453G>T (p.Leu151Phe) c.90-61G>T (n.90-61G>T) n.415G>T n.569G>T c.18G>T (p.Leu6Phe) c.108G>T (p.Leu36Phe) c.*7G>T (n.*7G>T) n.285G>T n.533+2898C>A c.489G>T (p.Leu163Phe) | |
| 10 | g.95844495G>A | CA377822610 | ENTPD1,ENTPD1-AS1 | c.433G>A (p.Ala145Thr) c.282G>A (p.Trp94Ter) n.418G>A c.469G>A (p.Ala157Thr) c.454G>A (p.Ala152Thr) c.90-60G>A (n.90-60G>A) n.416G>A n.570G>A c.19G>A (p.Ala7Thr) c.109G>A (p.Ala37Thr) c.*8G>A (n.*8G>A) n.286G>A n.533+2897C>T c.490G>A (p.Ala164Thr) | |
| 10 | g.95844495G>C | CA377822611 | ENTPD1,ENTPD1-AS1 | c.433G>C (p.Ala145Pro) c.282G>C (p.Trp94Cys) n.418G>C c.469G>C (p.Ala157Pro) c.454G>C (p.Ala152Pro) c.90-60G>C (n.90-60G>C) n.416G>C n.570G>C c.19G>C (p.Ala7Pro) c.109G>C (p.Ala37Pro) c.*8G>C (n.*8G>C) n.286G>C n.533+2897C>G c.490G>C (p.Ala164Pro) | |
| 10 | g.95844495G>T | CA377822612 | ENTPD1,ENTPD1-AS1 | c.433G>T (p.Ala145Ser) c.282G>T (p.Trp94Cys) n.418G>T c.469G>T (p.Ala157Ser) c.454G>T (p.Ala152Ser) c.90-60G>T (n.90-60G>T) n.416G>T n.570G>T c.19G>T (p.Ala7Ser) c.109G>T (p.Ala37Ser) c.*8G>T (n.*8G>T) n.286G>T n.533+2897C>A c.490G>T (p.Ala164Ser) | |
| 10 | g.95844496C>A | CA5621403 | ENTPD1,ENTPD1-AS1 | c.434C>A (p.Ala145Glu) c.283C>A (p.Gln95Lys) n.419C>A c.470C>A (p.Ala157Glu) c.455C>A (p.Ala152Glu) c.90-59C>A (n.90-59C>A) n.417C>A n.571C>A c.20C>A (p.Ala7Glu) c.110C>A (p.Ala37Glu) c.*9C>A (n.*9C>A) n.287C>A n.533+2896G>T c.491C>A (p.Ala164Glu) | dbSNP ExAC gnomAD v2 |
| 10 | g.95844496C= | CA1929710241 | ENTPD1,ENTPD1-AS1 | c.434C= (p.Ala145=) c.283C= (p.Gln95=) n.419C= c.470C= (p.Ala157=) c.455C= (p.Ala152=) c.90-59C= (n.90-59C=) n.417C= n.571C= c.20C= (p.Ala7=) c.110C= (p.Ala37=) c.*9C= (n.*9C=) n.287C= n.533+2896G= c.491C= (p.Ala164=) | |
| 10 | g.95844496C>G | CA377822613 | ENTPD1,ENTPD1-AS1 | c.434C>G (p.Ala145Gly) c.283C>G (p.Gln95Glu) n.419C>G c.470C>G (p.Ala157Gly) c.455C>G (p.Ala152Gly) c.90-59C>G (n.90-59C>G) n.417C>G n.571C>G c.20C>G (p.Ala7Gly) c.110C>G (p.Ala37Gly) c.*9C>G (n.*9C>G) n.287C>G n.533+2896G>C c.491C>G (p.Ala164Gly) |