| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50625255_50625267delinsAGGTCACAGCTGC | CA2410958387 | ARSA | c.1408_1420delinsGCAGCTGTGACCT (p.Ala470=) c.1150_1162delinsGCAGCTGTGACCT (p.Ala384=) c.180+96_180+108delinsGCAGCTGTGACCT c.*141_*153delinsGCAGCTGTGACCT (n.*141_*153delinsGCAGCTGTGACCT) c.1522_1534delinsGCAGCTGTGACCT (p.Ala508=) | |
| 22 | g.50625256_50625267delinsGGTCACAGCTGC | CA2410958388 | ARSA | c.1408_1419delinsGCAGCTGTGACC (p.Ala470=) c.1150_1161delinsGCAGCTGTGACC (p.Ala384=) c.180+96_180+107delinsGCAGCTGTGACC c.*141_*152delinsGCAGCTGTGACC (n.*141_*152delinsGCAGCTGTGACC) c.1522_1533delinsGCAGCTGTGACC (p.Ala508=) | |
| 22 | g.50625257_50625268del | CA1139667190 | ARSA | c.1408_1419del (p.Ala470_Thr473del) c.1150_1161del (p.Ala384_Thr387del) c.180+96_180+107del c.*141_*152del (n.*141_*152del) c.1522_1533del (p.Ala508_Thr511del) | ClinVar dbSNP |
| 22 | g.50625260_50625270del | CA278517 | ARSA | c.1408_1418del (p.Ala470LeufsTer?) c.1150_1160del (p.Ala384LeufsTer?) c.180+96_180+106del c.*141_*151del (n.*141_*151del) c.1522_1532del (p.Ala508LeufsTer?) | ClinVar dbSNP |
| 22 | g.50625260A= | CA2410958391 | ARSA | c.1415T= (p.Val472=) c.1157T= (p.Val386=) c.180+103T= c.*148T= (n.*148T=) c.1529T= (p.Val510=) | |
| 22 | g.50625260A>C | CA412167742 | ARSA | c.1415T>G (p.Val472Gly) c.1157T>G (p.Val386Gly) c.180+103T>G c.*148T>G (n.*148T>G) c.1529T>G (p.Val510Gly) | |
| 22 | g.50625260A>G | CA325531198 | ARSA | c.1415T>C (p.Val472Ala) c.1157T>C (p.Val386Ala) c.180+103T>C c.*148T>C (n.*148T>C) c.1529T>C (p.Val510Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625260A>T | CA412167748 | ARSA | c.1415T>A (p.Val472Glu) c.1157T>A (p.Val386Glu) c.180+103T>A c.*148T>A (n.*148T>A) c.1529T>A (p.Val510Glu) | |
| 22 | g.50625261C>A | CA412167752 | ARSA | c.1414G>T (p.Val472Leu) c.1156G>T (p.Val386Leu) c.180+102G>T c.*147G>T (n.*147G>T) c.1528G>T (p.Val510Leu) | |
| 22 | g.50625261C= | CA2410958392 | ARSA | c.1414G= (p.Val472=) c.1156G= (p.Val386=) c.180+102G= c.*147G= (n.*147G=) c.1528G= (p.Val510=) | |
| 22 | g.50625261C>G | CA412167754 | ARSA | c.1414G>C (p.Val472Leu) c.1156G>C (p.Val386Leu) c.180+102G>C c.*147G>C (n.*147G>C) c.1528G>C (p.Val510Leu) | |
| 22 | g.50625261C>T | CA412167758 | ARSA | c.1414G>A (p.Val472Met) c.1156G>A (p.Val386Met) c.180+102G>A c.*147G>A (n.*147G>A) c.1528G>A (p.Val510Met) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625262A= | CA2410958393 | ARSA | c.1413T= (p.Ala471=) c.1155T= (p.Ala385=) c.180+101T= c.*146T= (n.*146T=) c.1527T= (p.Ala509=) | |
| 22 | g.50625262A>C | CA515391123 | ARSA | c.1413T>G (p.Ala471=) c.1155T>G (p.Ala385=) c.180+101T>G c.*146T>G (n.*146T>G) c.1527T>G (p.Ala509=) | |
| 22 | g.50625262A>G | CA515391119 | ARSA | c.1413T>C (p.Ala471=) c.1155T>C (p.Ala385=) c.180+101T>C c.*146T>C (n.*146T>C) c.1527T>C (p.Ala509=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625262A>T | CA515391121 | ARSA | c.1413T>A (p.Ala471=) c.1155T>A (p.Ala385=) c.180+101T>A c.*146T>A (n.*146T>A) c.1527T>A (p.Ala509=) | dbSNP |
| 22 | g.50625263G>A | CA412167762 | ARSA | c.1412C>T (p.Ala471Val) c.1154C>T (p.Ala385Val) c.180+100C>T c.*145C>T (n.*145C>T) c.1526C>T (p.Ala509Val) | |
| 22 | g.50625263G>C | CA218998 | ARSA | c.1412C>G (p.Ala471Gly) c.1154C>G (p.Ala385Gly) c.180+100C>G c.*145C>G (n.*145C>G) c.1526C>G (p.Ala509Gly) | ClinVar dbSNP |
| 22 | g.50625263G= | CA2410958394 | ARSA | c.1412C= (p.Ala471=) c.1154C= (p.Ala385=) c.180+100C= c.*145C= (n.*145C=) c.1526C= (p.Ala509=) | |
| 22 | g.50625263G>T | CA412167768 | ARSA | c.1412C>A (p.Ala471Asp) c.1154C>A (p.Ala385Asp) c.180+100C>A c.*145C>A (n.*145C>A) c.1526C>A (p.Ala509Asp) | |
| 22 | g.50625264C>A | CA412167781 | ARSA | c.1411G>T (p.Ala471Ser) c.1153G>T (p.Ala385Ser) c.180+99G>T c.*144G>T (n.*144G>T) c.1525G>T (p.Ala509Ser) | |
| 22 | g.50625264C= | CA2410958395 | ARSA | c.1411G= (p.Ala471=) c.1153G= (p.Ala385=) c.180+99G= c.*144G= (n.*144G=) c.1525G= (p.Ala509=) | |
| 22 | g.50625264C>G | CA412167778 | ARSA | c.1411G>C (p.Ala471Pro) c.1153G>C (p.Ala385Pro) c.180+99G>C c.*144G>C (n.*144G>C) c.1525G>C (p.Ala509Pro) | |
| 22 | g.50625264C>T | CA412167774 | ARSA | c.1411G>A (p.Ala471Thr) c.1153G>A (p.Ala385Thr) c.180+99G>A c.*144G>A (n.*144G>A) c.1525G>A (p.Ala509Thr) | dbSNP gnomAD v4 |
| 22 | g.50625265T>A | CA10324732 | ARSA | c.1410A>T (p.Ala470=) c.1152A>T (p.Ala384=) c.180+98A>T c.*143A>T (n.*143A>T) c.1524A>T (p.Ala508=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625265T>C | CA515391133 | ARSA | c.1410A>G (p.Ala470=) c.1152A>G (p.Ala384=) c.180+98A>G c.*143A>G (n.*143A>G) c.1524A>G (p.Ala508=) | |
| 22 | g.50625265T>G | CA515391135 | ARSA | c.1410A>C (p.Ala470=) c.1152A>C (p.Ala384=) c.180+98A>C c.*143A>C (n.*143A>C) c.1524A>C (p.Ala508=) | |
| 22 | g.50625265T= | CA2410958396 | ARSA | c.1410A= (p.Ala470=) c.1152A= (p.Ala384=) c.180+98A= c.*143A= (n.*143A=) c.1524A= (p.Ala508=) | |
| 22 | g.50625266G>A | CA412167789 | ARSA | c.1409C>T (p.Ala470Val) c.1151C>T (p.Ala384Val) c.180+97C>T c.*142C>T (n.*142C>T) c.1523C>T (p.Ala508Val) | dbSNP gnomAD v4 |
| 22 | g.50625266G>C | CA412167794 | ARSA | c.1409C>G (p.Ala470Gly) c.1151C>G (p.Ala384Gly) c.180+97C>G c.*142C>G (n.*142C>G) c.1523C>G (p.Ala508Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625266G= | CA2410958397 | ARSA | c.1409C= (p.Ala470=) c.1151C= (p.Ala384=) c.180+97C= c.*142C= (n.*142C=) c.1523C= (p.Ala508=) | |
| 22 | g.50625266G>T | CA412167799 | ARSA | c.1409C>A (p.Ala470Glu) c.1151C>A (p.Ala384Glu) c.180+97C>A c.*142C>A (n.*142C>A) c.1523C>A (p.Ala508Glu) | |
| 22 | g.50625267C>A | CA412167803 | ARSA | c.1408G>T (p.Ala470Ser) c.1150G>T (p.Ala384Ser) c.180+96G>T c.*141G>T (n.*141G>T) c.1522G>T (p.Ala508Ser) | |
| 22 | g.50625267C= | CA2410958398 | ARSA | c.1408G= (p.Ala470=) c.1150G= (p.Ala384=) c.180+96G= c.*141G= (n.*141G=) c.1522G= (p.Ala508=) | |
| 22 | g.50625267C>G | CA412167806 | ARSA | c.1408G>C (p.Ala470Pro) c.1150G>C (p.Ala384Pro) c.180+96G>C c.*141G>C (n.*141G>C) c.1522G>C (p.Ala508Pro) | |
| 22 | g.50625267C>T | CA10324733 | ARSA | c.1408G>A (p.Ala470Thr) c.1150G>A (p.Ala384Thr) c.180+96G>A c.*141G>A (n.*141G>A) c.1522G>A (p.Ala508Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.50625268G>A | CA10324734 | ARSA | c.1407C>T (p.Asp469=) c.1149C>T (p.Asp383=) c.180+95C>T c.*140C>T (n.*140C>T) c.1521C>T (p.Asp507=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625268G>C | CA412167822 | ARSA | c.1407C>G (p.Asp469Glu) c.1149C>G (p.Asp383Glu) c.180+95C>G c.*140C>G (n.*140C>G) c.1521C>G (p.Asp507Glu) | |
| 22 | g.50625268G= | CA2410958399 | ARSA | c.1407C= (p.Asp469=) c.1149C= (p.Asp383=) c.180+95C= c.*140C= (n.*140C=) c.1521C= (p.Asp507=) | |
| 22 | g.50625268G>T | CA412167826 | ARSA | c.1407C>A (p.Asp469Glu) c.1149C>A (p.Asp383Glu) c.180+95C>A c.*140C>A (n.*140C>A) c.1521C>A (p.Asp507Glu) | |
| 22 | g.50625269T>A | CA412167830 | ARSA | c.1406A>T (p.Asp469Val) c.1148A>T (p.Asp383Val) c.180+94A>T c.*139A>T (n.*139A>T) c.1520A>T (p.Asp507Val) | gnomAD v4 |
| 22 | g.50625269T>C | CA412167836 | ARSA | c.1406A>G (p.Asp469Gly) c.1148A>G (p.Asp383Gly) c.180+94A>G c.*139A>G (n.*139A>G) c.1520A>G (p.Asp507Gly) | gnomAD v4 |
| 22 | g.50625269T>G | CA412167848 | ARSA | c.1406A>C (p.Asp469Ala) c.1148A>C (p.Asp383Ala) c.180+94A>C c.*139A>C (n.*139A>C) c.1520A>C (p.Asp507Ala) | |
| 22 | g.50625270C>A | CA412167856 | ARSA | c.1405G>T (p.Asp469Tyr) c.1147G>T (p.Asp383Tyr) c.180+93G>T c.*138G>T (n.*138G>T) c.1519G>T (p.Asp507Tyr) | |
| 22 | g.50625270C>G | CA412167854 | ARSA | c.1405G>C (p.Asp469His) c.1147G>C (p.Asp383His) c.180+93G>C c.*138G>C (n.*138G>C) c.1519G>C (p.Asp507His) | |
| 22 | g.50625270C>T | CA412167853 | ARSA | c.1405G>A (p.Asp469Asn) c.1147G>A (p.Asp383Asn) c.180+93G>A c.*138G>A (n.*138G>A) c.1519G>A (p.Asp507Asn) | |
| 22 | g.50625271T>A | CA412167858 | ARSA | c.1404A>T (p.Leu468Phe) c.1146A>T (p.Leu382Phe) c.180+92A>T c.*137A>T (n.*137A>T) c.1518A>T (p.Leu506Phe) | |
| 22 | g.50625271T>C | CA515391143 | ARSA | c.1404A>G (p.Leu468=) c.1146A>G (p.Leu382=) c.180+92A>G c.*137A>G (n.*137A>G) c.1518A>G (p.Leu506=) | |
| 22 | g.50625271T>G | CA412167861 | ARSA | c.1404A>C (p.Leu468Phe) c.1146A>C (p.Leu382Phe) c.180+92A>C c.*137A>C (n.*137A>C) c.1518A>C (p.Leu506Phe) | |
| 22 | g.50625272A>C | CA412167866 | ARSA | c.1403T>G (p.Leu468Ter) c.1145T>G (p.Leu382Ter) c.180+91T>G c.*136T>G (n.*136T>G) c.1517T>G (p.Leu506Ter) |