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 |
|---|---|---|---|---|---|
| 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) | |
| 22 | g.50625272A>G | CA412167868 | ARSA | c.1403T>C (p.Leu468Ser) c.1145T>C (p.Leu382Ser) c.180+91T>C c.*136T>C (n.*136T>C) c.1517T>C (p.Leu506Ser) | |
| 22 | g.50625272A>T | CA412167872 | ARSA | c.1403T>A (p.Leu468Ter) c.1145T>A (p.Leu382Ter) c.180+91T>A c.*136T>A (n.*136T>A) c.1517T>A (p.Leu506Ter) | |
| 22 | g.50625273A>C | CA412167875 | ARSA | c.1402T>G (p.Leu468Val) c.1144T>G (p.Leu382Val) c.180+90T>G c.*135T>G (n.*135T>G) c.1516T>G (p.Leu506Val) | |
| 22 | g.50625273A>G | CA515391150 | ARSA | c.1402T>C (p.Leu468=) c.1144T>C (p.Leu382=) c.180+90T>C c.*135T>C (n.*135T>C) c.1516T>C (p.Leu506=) | |
| 22 | g.50625273A>T | CA412167878 | ARSA | c.1402T>A (p.Leu468Ile) c.1144T>A (p.Leu382Ile) c.180+90T>A c.*135T>A (n.*135T>A) c.1516T>A (p.Leu506Ile) | |
| 22 | g.50625274C>A | CA412167882 | ARSA | c.1401G>T (p.Gln467His) c.1143G>T (p.Gln381His) c.180+89G>T c.*134G>T (n.*134G>T) c.1515G>T (p.Gln505His) | |
| 22 | g.50625274C>G | CA412167886 | ARSA | c.1401G>C (p.Gln467His) c.1143G>C (p.Gln381His) c.180+89G>C c.*134G>C (n.*134G>C) c.1515G>C (p.Gln505His) | |
| 22 | g.50625274C>T | CA515391154 | ARSA | c.1401G>A (p.Gln467=) c.1143G>A (p.Gln381=) c.180+89G>A c.*134G>A (n.*134G>A) c.1515G>A (p.Gln505=) | gnomAD v4 |
| 22 | g.50625275T>A | CA412167891 | ARSA | c.1400A>T (p.Gln467Leu) c.1142A>T (p.Gln381Leu) c.180+88A>T c.*133A>T (n.*133A>T) c.1514A>T (p.Gln505Leu) | |
| 22 | g.50625275T>C | CA412167893 | ARSA | c.1400A>G (p.Gln467Arg) c.1142A>G (p.Gln381Arg) c.180+88A>G c.*133A>G (n.*133A>G) c.1514A>G (p.Gln505Arg) | |
| 22 | g.50625275T>G | CA412167896 | ARSA | c.1400A>C (p.Gln467Pro) c.1142A>C (p.Gln381Pro) c.180+88A>C c.*133A>C (n.*133A>C) c.1514A>C (p.Gln505Pro) | ClinVar |
| 22 | g.50625276G>A | CA412167900 | ARSA | c.1399C>T (p.Gln467Ter) c.1141C>T (p.Gln381Ter) c.180+87C>T c.*132C>T (n.*132C>T) c.1513C>T (p.Gln505Ter) | ClinVar gnomAD v4 |
| 22 | g.50625276G>C | CA412167902 | ARSA | c.1399C>G (p.Gln467Glu) c.1141C>G (p.Gln381Glu) c.180+87C>G c.*132C>G (n.*132C>G) c.1513C>G (p.Gln505Glu) | |
| 22 | g.50625276G>T | CA412167904 | ARSA | c.1399C>A (p.Gln467Lys) c.1141C>A (p.Gln381Lys) c.180+87C>A c.*132C>A (n.*132C>A) c.1513C>A (p.Gln505Lys) | |
| 22 | g.50625277G>A | CA515391167 | ARSA | c.1398C>T (p.Ala466=) c.1140C>T (p.Ala380=) c.180+86C>T c.*131C>T (n.*131C>T) c.1512C>T (p.Ala504=) | ClinVar dbSNP |
| 22 | g.50625277G>C | CA515391168 | ARSA | c.1398C>G (p.Ala466=) c.1140C>G (p.Ala380=) c.180+86C>G c.*131C>G (n.*131C>G) c.1512C>G (p.Ala504=) | |
| 22 | g.50625277G= | CA2410958400 | ARSA | c.1398C= (p.Ala466=) c.1140C= (p.Ala380=) c.180+86C= c.*131C= (n.*131C=) c.1512C= (p.Ala504=) | |
| 22 | g.50625277G>T | CA515391169 | ARSA | c.1398C>A (p.Ala466=) c.1140C>A (p.Ala380=) c.180+86C>A c.*131C>A (n.*131C>A) c.1512C>A (p.Ala504=) | |
| 22 | g.50625278G>A | CA10324735 | ARSA | c.1397C>T (p.Ala466Val) c.1139C>T (p.Ala380Val) c.180+85C>T c.*130C>T (n.*130C>T) c.1511C>T (p.Ala504Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625278G>C | CA412167908 | ARSA | c.1397C>G (p.Ala466Gly) c.1139C>G (p.Ala380Gly) c.180+85C>G c.*130C>G (n.*130C>G) c.1511C>G (p.Ala504Gly) | |
| 22 | g.50625278G= | CA2410958401 | ARSA | c.1397C= (p.Ala466=) c.1139C= (p.Ala380=) c.180+85C= c.*130C= (n.*130C=) c.1511C= (p.Ala504=) | |
| 22 | g.50625278G>T | CA412167907 | ARSA | c.1397C>A (p.Ala466Asp) c.1139C>A (p.Ala380Asp) c.180+85C>A c.*130C>A (n.*130C>A) c.1511C>A (p.Ala504Asp) | |
| 22 | g.50625279C>A | CA412167912 | ARSA | c.1396G>T (p.Ala466Ser) c.1138G>T (p.Ala380Ser) c.180+84G>T c.*129G>T (n.*129G>T) c.1510G>T (p.Ala504Ser) | |
| 22 | g.50625279C>G | CA412167913 | ARSA | c.1396G>C (p.Ala466Pro) c.1138G>C (p.Ala380Pro) c.180+84G>C c.*129G>C (n.*129G>C) c.1510G>C (p.Ala504Pro) | |
| 22 | g.50625279C>T | CA412167915 | ARSA | c.1396G>A (p.Ala466Thr) c.1138G>A (p.Ala380Thr) c.180+84G>A c.*129G>A (n.*129G>A) c.1510G>A (p.Ala504Thr) | |
| 22 | g.50625280C>A | CA412167919 | ARSA | c.1395G>T (p.Lys465Asn) c.1137G>T (p.Lys379Asn) c.180+83G>T c.*128G>T (n.*128G>T) c.1509G>T (p.Lys503Asn) | |
| 22 | g.50625280C>G | CA412167922 | ARSA | c.1395G>C (p.Lys465Asn) c.1137G>C (p.Lys379Asn) c.180+83G>C c.*128G>C (n.*128G>C) c.1509G>C (p.Lys503Asn) | |
| 22 | g.50625280C>T | CA515391179 | ARSA | c.1395G>A (p.Lys465=) c.1137G>A (p.Lys379=) c.180+83G>A c.*128G>A (n.*128G>A) c.1509G>A (p.Lys503=) | |
| 22 | g.50625281T>A | CA412167927 | ARSA | c.1394A>T (p.Lys465Met) c.1136A>T (p.Lys379Met) c.180+82A>T c.*127A>T (n.*127A>T) c.1508A>T (p.Lys503Met) | |
| 22 | g.50625281T>C | CA412167930 | ARSA | c.1394A>G (p.Lys465Arg) c.1136A>G (p.Lys379Arg) c.180+82A>G c.*127A>G (n.*127A>G) c.1508A>G (p.Lys503Arg) | |
| 22 | g.50625281T>G | CA412167932 | ARSA | c.1394A>C (p.Lys465Thr) c.1136A>C (p.Lys379Thr) c.180+82A>C c.*127A>C (n.*127A>C) c.1508A>C (p.Lys503Thr) | |
| 22 | g.50625282T>A | CA412167937 | ARSA | c.1393A>T (p.Lys465Ter) c.1135A>T (p.Lys379Ter) c.180+81A>T c.*126A>T (n.*126A>T) c.1507A>T (p.Lys503Ter) | |
| 22 | g.50625282T>C | CA412167940 | ARSA | c.1393A>G (p.Lys465Glu) c.1135A>G (p.Lys379Glu) c.180+81A>G c.*126A>G (n.*126A>G) c.1507A>G (p.Lys503Glu) | |
| 22 | g.50625282T>G | CA412167944 | ARSA | c.1393A>C (p.Lys465Gln) c.1135A>C (p.Lys379Gln) c.180+81A>C c.*126A>C (n.*126A>C) c.1507A>C (p.Lys503Gln) | |
| 22 | g.50625283G>A | CA515391194 | ARSA | c.1392C>T (p.Leu464=) c.1134C>T (p.Leu378=) c.180+80C>T c.*125C>T (n.*125C>T) c.1506C>T (p.Leu502=) | |
| 22 | g.50625283G>C | CA515391191 | ARSA | c.1392C>G (p.Leu464=) c.1134C>G (p.Leu378=) c.180+80C>G c.*125C>G (n.*125C>G) c.1506C>G (p.Leu502=) | |
| 22 | g.50625283G>T | CA515391193 | ARSA | c.1392C>A (p.Leu464=) c.1134C>A (p.Leu378=) c.180+80C>A c.*125C>A (n.*125C>A) c.1506C>A (p.Leu502=) | |
| 22 | g.50625284A= | CA2410958402 | ARSA | c.1391T= (p.Leu464=) c.1133T= (p.Leu378=) c.180+79T= c.*124T= (n.*124T=) c.1505T= (p.Leu502=) | |
| 22 | g.50625284A>C | CA412167947 | ARSA | c.1391T>G (p.Leu464Arg) c.1133T>G (p.Leu378Arg) c.180+79T>G c.*124T>G (n.*124T>G) c.1505T>G (p.Leu502Arg) | |
| 22 | g.50625284A>G | CA412167951 | ARSA | c.1391T>C (p.Leu464Pro) c.1133T>C (p.Leu378Pro) c.180+79T>C c.*124T>C (n.*124T>C) c.1505T>C (p.Leu502Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625284A>T | CA412167954 | ARSA | c.1391T>A (p.Leu464His) c.1133T>A (p.Leu378His) c.180+79T>A c.*124T>A (n.*124T>A) c.1505T>A (p.Leu502His) | |
| 22 | g.50625285G>A | CA412167960 | ARSA | c.1390C>T (p.Leu464Phe) c.1132C>T (p.Leu378Phe) c.180+78C>T c.*123C>T (n.*123C>T) c.1504C>T (p.Leu502Phe) | ClinVar dbSNP |
| 22 | g.50625285G>C | CA412167964 | ARSA | c.1390C>G (p.Leu464Val) c.1132C>G (p.Leu378Val) c.180+78C>G c.*123C>G (n.*123C>G) c.1504C>G (p.Leu502Val) | |
| 22 | g.50625285G>T | CA412167958 | ARSA | c.1390C>A (p.Leu464Ile) c.1132C>A (p.Leu378Ile) c.180+78C>A c.*123C>A (n.*123C>A) c.1504C>A (p.Leu502Ile) | |
| 22 | g.50625286C>A | CA515391197 | ARSA | c.1389G>T (p.Leu463=) c.1131G>T (p.Leu377=) c.180+77G>T c.*122G>T (n.*122G>T) c.1503G>T (p.Leu501=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625286C>G | CA515391198 | ARSA | c.1389G>C (p.Leu463=) c.1131G>C (p.Leu377=) c.180+77G>C c.*122G>C (n.*122G>C) c.1503G>C (p.Leu501=) | |
| 22 | g.50625286C>T | CA515391199 | ARSA | c.1389G>A (p.Leu463=) c.1131G>A (p.Leu377=) c.180+77G>A c.*122G>A (n.*122G>A) c.1503G>A (p.Leu501=) | gnomAD v4 |
| 22 | g.50625286_50625287delinsCA | CA2410958403 | ARSA | c.1388_1389delinsTG (p.Leu463=) c.1130_1131delinsTG (p.Leu377=) c.180+76_180+77delinsTG c.*121_*122delinsTG (n.*121_*122delinsTG) c.1502_1503delinsTG (p.Leu501=) | |
| 22 | g.50625287del | CA16042033 | ARSA | c.1388del (p.Leu463ArgfsTer6) c.1130del (p.Leu377ArgfsTer6) c.180+76del c.*121del (n.*121del) c.1502del (p.Leu501ArgfsTer6) | ClinVar dbSNP |
| 22 | g.50625287A>C | CA412167971 | ARSA | c.1388T>G (p.Leu463Arg) c.1130T>G (p.Leu377Arg) c.180+76T>G c.*121T>G (n.*121T>G) c.1502T>G (p.Leu501Arg) | |
| 22 | g.50625287A>G | CA412167975 | ARSA | c.1388T>C (p.Leu463Pro) c.1130T>C (p.Leu377Pro) c.180+76T>C c.*121T>C (n.*121T>C) c.1502T>C (p.Leu501Pro) | |
| 22 | g.50625287A>T | CA412167980 | ARSA | c.1388T>A (p.Leu463Gln) c.1130T>A (p.Leu377Gln) c.180+76T>A c.*121T>A (n.*121T>A) c.1502T>A (p.Leu501Gln) | |
| 22 | g.50625288G>A | CA515391203 | ARSA | c.1387C>T (p.Leu463=) c.1129C>T (p.Leu377=) c.180+75C>T c.*120C>T (n.*120C>T) c.1501C>T (p.Leu501=) | ClinVar |
| 22 | g.50625288G>C | CA412167985 | ARSA | c.1387C>G (p.Leu463Val) c.1129C>G (p.Leu377Val) c.180+75C>G c.*120C>G (n.*120C>G) c.1501C>G (p.Leu501Val) | |
| 22 | g.50625288G>T | CA412167988 | ARSA | c.1387C>A (p.Leu463Met) c.1129C>A (p.Leu377Met) c.180+75C>A c.*120C>A (n.*120C>A) c.1501C>A (p.Leu501Met) | |
| 22 | g.50625289C>A | CA412167995 | ARSA | c.1386G>T (p.Gln462His) c.1128G>T (p.Gln376His) c.180+74G>T c.*119G>T (n.*119G>T) c.1500G>T (p.Gln500His) | |
| 22 | g.50625289C>G | CA412167993 | ARSA | c.1386G>C (p.Gln462His) c.1128G>C (p.Gln376His) c.180+74G>C c.*119G>C (n.*119G>C) c.1500G>C (p.Gln500His) | gnomAD v4 |
| 22 | g.50625289C>T | CA515391206 | ARSA | c.1386G>A (p.Gln462=) c.1128G>A (p.Gln376=) c.180+74G>A c.*119G>A (n.*119G>A) c.1500G>A (p.Gln500=) | |
| 22 | g.50625290T>A | CA412168000 | ARSA | c.1385A>T (p.Gln462Leu) c.1127A>T (p.Gln376Leu) c.180+73A>T c.*118A>T (n.*118A>T) c.1499A>T (p.Gln500Leu) | |
| 22 | g.50625290T>C | CA412168003 | ARSA | c.1385A>G (p.Gln462Arg) c.1127A>G (p.Gln376Arg) c.180+73A>G c.*118A>G (n.*118A>G) c.1499A>G (p.Gln500Arg) | ClinVar dbSNP |
| 22 | g.50625290T>G | CA412168007 | ARSA | c.1385A>C (p.Gln462Pro) c.1127A>C (p.Gln376Pro) c.180+73A>C c.*118A>C (n.*118A>C) c.1499A>C (p.Gln500Pro) | |
| 22 | g.50625291G>A | CA10324736 | ARSA | c.1384C>T (p.Gln462Ter) c.1126C>T (p.Gln376Ter) c.180+72C>T c.*117C>T (n.*117C>T) c.1498C>T (p.Gln500Ter) | dbSNP ExAC gnomAD v2 |
| 22 | g.50625291G>C | CA412168027 | ARSA | c.1384C>G (p.Gln462Glu) c.1126C>G (p.Gln376Glu) c.180+72C>G c.*117C>G (n.*117C>G) c.1498C>G (p.Gln500Glu) | |
| 22 | g.50625291G= | CA2410958404 | ARSA | c.1384C= (p.Gln462=) c.1126C= (p.Gln376=) c.180+72C= c.*117C= (n.*117C=) c.1498C= (p.Gln500=) | |
| 22 | g.50625291G>T | CA412168032 | ARSA | c.1384C>A (p.Gln462Lys) c.1126C>A (p.Gln376Lys) c.180+72C>A c.*117C>A (n.*117C>A) c.1498C>A (p.Gln500Lys) | |
| 22 | g.50625292A>C | CA515391217 | ARSA | c.1383T>G (p.Leu461=) c.1125T>G (p.Leu375=) c.180+71T>G c.*116T>G (n.*116T>G) c.1497T>G (p.Leu499=) | |
| 22 | g.50625292A>G | CA515391218 | ARSA | c.1383T>C (p.Leu461=) c.1125T>C (p.Leu375=) c.180+71T>C c.*116T>C (n.*116T>C) c.1497T>C (p.Leu499=) | |
| 22 | g.50625292A>T | CA515391219 | ARSA | c.1383T>A (p.Leu461=) c.1125T>A (p.Leu375=) c.180+71T>A c.*116T>A (n.*116T>A) c.1497T>A (p.Leu499=) | |
| 22 | g.50625293A>C | CA412168037 | ARSA | c.1382T>G (p.Leu461Arg) c.1124T>G (p.Leu375Arg) c.180+70T>G c.*115T>G (n.*115T>G) c.1496T>G (p.Leu499Arg) | |
| 22 | g.50625293A>G | CA412168046 | ARSA | c.1382T>C (p.Leu461Pro) c.1124T>C (p.Leu375Pro) c.180+70T>C c.*115T>C (n.*115T>C) c.1496T>C (p.Leu499Pro) | |
| 22 | g.50625293A>T | CA412168040 | ARSA | c.1382T>A (p.Leu461His) c.1124T>A (p.Leu375His) c.180+70T>A c.*115T>A (n.*115T>A) c.1496T>A (p.Leu499His) | |
| 22 | g.50625294G>A | CA412168050 | ARSA | c.1381C>T (p.Leu461Phe) c.1123C>T (p.Leu375Phe) c.180+69C>T c.*114C>T (n.*114C>T) c.1495C>T (p.Leu499Phe) | gnomAD v4 |
| 22 | g.50625294G>C | CA412168054 | ARSA | c.1381C>G (p.Leu461Val) c.1123C>G (p.Leu375Val) c.180+69C>G c.*114C>G (n.*114C>G) c.1495C>G (p.Leu499Val) | |
| 22 | g.50625294G>T | CA412168058 | ARSA | c.1381C>A (p.Leu461Ile) c.1123C>A (p.Leu375Ile) c.180+69C>A c.*114C>A (n.*114C>A) c.1495C>A (p.Leu499Ile) | |
| 22 | g.50625295C>A | CA412168062 | ARSA | c.1380G>T (p.Gln460His) c.1122G>T (p.Gln374His) c.180+68G>T c.*113G>T (n.*113G>T) c.1494G>T (p.Gln498His) | |
| 22 | g.50625295C>G | CA412168065 | ARSA | c.1380G>C (p.Gln460His) c.1122G>C (p.Gln374His) c.180+68G>C c.*113G>C (n.*113G>C) c.1494G>C (p.Gln498His) | |
| 22 | g.50625295C>T | CA515391225 | ARSA | c.1380G>A (p.Gln460=) c.1122G>A (p.Gln374=) c.180+68G>A c.*113G>A (n.*113G>A) c.1494G>A (p.Gln498=) | |
| 22 | g.50625296T>A | CA412168069 | ARSA | c.1379A>T (p.Gln460Leu) c.1121A>T (p.Gln374Leu) c.180+67A>T c.*112A>T (n.*112A>T) c.1493A>T (p.Gln498Leu) | |
| 22 | g.50625296T>C | CA412168071 | ARSA | c.1379A>G (p.Gln460Arg) c.1121A>G (p.Gln374Arg) c.180+67A>G c.*112A>G (n.*112A>G) c.1493A>G (p.Gln498Arg) | |
| 22 | g.50625296T>G | CA412168078 | ARSA | c.1379A>C (p.Gln460Pro) c.1121A>C (p.Gln374Pro) c.180+67A>C c.*112A>C (n.*112A>C) c.1493A>C (p.Gln498Pro) | |
| 22 | g.50625297G>A | CA412168081 | ARSA | c.1378C>T (p.Gln460Ter) c.1120C>T (p.Gln374Ter) c.180+66C>T c.*111C>T (n.*111C>T) c.1492C>T (p.Gln498Ter) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625297G>C | CA325531208 | ARSA | c.1378C>G (p.Gln460Glu) c.1120C>G (p.Gln374Glu) c.180+66C>G c.*111C>G (n.*111C>G) c.1492C>G (p.Gln498Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625297G= | CA2410958405 | ARSA | c.1378C= (p.Gln460=) c.1120C= (p.Gln374=) c.180+66C= c.*111C= (n.*111C=) c.1492C= (p.Gln498=) | |
| 22 | g.50625297G>T | CA412168087 | ARSA | c.1378C>A (p.Gln460Lys) c.1120C>A (p.Gln374Lys) c.180+66C>A c.*111C>A (n.*111C>A) c.1492C>A (p.Gln498Lys) | gnomAD v4 |
| 22 | g.50625298T>A | CA412168092 | ARSA | c.1377A>T (p.Lys459Asn) c.1119A>T (p.Lys373Asn) c.180+65A>T c.*110A>T (n.*110A>T) c.1491A>T (p.Lys497Asn) | |
| 22 | g.50625298T>C | CA515391234 | ARSA | c.1377A>G (p.Lys459=) c.1119A>G (p.Lys373=) c.180+65A>G c.*110A>G (n.*110A>G) c.1491A>G (p.Lys497=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625298T>G | CA412168096 | ARSA | c.1377A>C (p.Lys459Asn) c.1119A>C (p.Lys373Asn) c.180+65A>C c.*110A>C (n.*110A>C) c.1491A>C (p.Lys497Asn) | |
| 22 | g.50625298T= | CA2410958406 | ARSA | c.1377A= (p.Lys459=) c.1119A= (p.Lys373=) c.180+65A= c.*110A= (n.*110A=) c.1491A= (p.Lys497=) | |
| 22 | g.50625299T>A | CA412168100 | ARSA | c.1376A>T (p.Lys459Ile) c.1118A>T (p.Lys373Ile) c.180+64A>T c.*109A>T (n.*109A>T) c.1490A>T (p.Lys497Ile) | |
| 22 | g.50625299T>C | CA10324737 | ARSA | c.1376A>G (p.Lys459Arg) c.1118A>G (p.Lys373Arg) c.180+64A>G c.*109A>G (n.*109A>G) c.1490A>G (p.Lys497Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625299T>G | CA412168103 | ARSA | c.1376A>C (p.Lys459Thr) c.1118A>C (p.Lys373Thr) c.180+64A>C c.*109A>C (n.*109A>C) c.1490A>C (p.Lys497Thr) | |
| 22 | g.50625299T= | CA2410958407 | ARSA | c.1376A= (p.Lys459=) c.1118A= (p.Lys373=) c.180+64A= c.*109A= (n.*109A=) c.1490A= (p.Lys497=) | |
| 22 | g.50625300T>A | CA412168108 | ARSA | c.1375A>T (p.Lys459Ter) c.1117A>T (p.Lys373Ter) c.180+63A>T c.*108A>T (n.*108A>T) c.1489A>T (p.Lys497Ter) | |
| 22 | g.50625300T>C | CA412168111 | ARSA | c.1375A>G (p.Lys459Glu) c.1117A>G (p.Lys373Glu) c.180+63A>G c.*108A>G (n.*108A>G) c.1489A>G (p.Lys497Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625300T>G | CA412168115 | ARSA | c.1375A>C (p.Lys459Gln) c.1117A>C (p.Lys373Gln) c.180+63A>C c.*108A>C (n.*108A>C) c.1489A>C (p.Lys497Gln) | |
| 22 | g.50625300T= | CA2410958408 | ARSA | c.1375A= (p.Lys459=) c.1117A= (p.Lys373=) c.180+63A= c.*108A= (n.*108A=) c.1489A= (p.Lys497=) | |
| 22 | g.50625301C>A | CA515391235 | ARSA | c.1374G>T (p.Leu458=) c.1116G>T (p.Leu372=) c.180+62G>T c.*107G>T (n.*107G>T) c.1488G>T (p.Leu496=) | |
| 22 | g.50625301C= | CA2410958409 | ARSA | c.1374G= (p.Leu458=) c.1116G= (p.Leu372=) c.180+62G= c.*107G= (n.*107G=) c.1488G= (p.Leu496=) | |
| 22 | g.50625301C>G | CA515391236 | ARSA | c.1374G>C (p.Leu458=) c.1116G>C (p.Leu372=) c.180+62G>C c.*107G>C (n.*107G>C) c.1488G>C (p.Leu496=) | ClinVar |
| 22 | g.50625301C>T | CA325531211 | ARSA | c.1374G>A (p.Leu458=) c.1116G>A (p.Leu372=) c.180+62G>A c.*107G>A (n.*107G>A) c.1488G>A (p.Leu496=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625302A>C | CA412168122 | ARSA | c.1373T>G (p.Leu458Arg) c.1115T>G (p.Leu372Arg) c.180+61T>G c.*106T>G (n.*106T>G) c.1487T>G (p.Leu496Arg) | |
| 22 | g.50625302A>G | CA412168127 | ARSA | c.1373T>C (p.Leu458Pro) c.1115T>C (p.Leu372Pro) c.180+61T>C c.*106T>C (n.*106T>C) c.1487T>C (p.Leu496Pro) | |
| 22 | g.50625302A>T | CA412168130 | ARSA | c.1373T>A (p.Leu458Gln) c.1115T>A (p.Leu372Gln) c.180+61T>A c.*106T>A (n.*106T>A) c.1487T>A (p.Leu496Gln) | |
| 22 | g.50625303G>A | CA515391239 | ARSA | c.1372C>T (p.Leu458=) c.1114C>T (p.Leu372=) c.180+60C>T c.*105C>T (n.*105C>T) c.1486C>T (p.Leu496=) | dbSNP |
| 22 | g.50625303G>C | CA412168134 | ARSA | c.1372C>G (p.Leu458Val) c.1114C>G (p.Leu372Val) c.180+60C>G c.*105C>G (n.*105C>G) c.1486C>G (p.Leu496Val) | |
| 22 | g.50625303G= | CA2410958410 | ARSA | c.1372C= (p.Leu458=) c.1114C= (p.Leu372=) c.180+60C= c.*105C= (n.*105C=) c.1486C= (p.Leu496=) | |
| 22 | g.50625303G>T | CA412168136 | ARSA | c.1372C>A (p.Leu458Met) c.1114C>A (p.Leu372Met) c.180+60C>A c.*105C>A (n.*105C>A) c.1486C>A (p.Leu496Met) | |
| 22 | g.50625304G>A | CA515391246 | ARSA | c.1371C>T (p.Ala457=) c.1113C>T (p.Ala371=) c.180+59C>T c.*104C>T (n.*104C>T) c.1485C>T (p.Ala495=) | ClinVar gnomAD v4 |
| 22 | g.50625304G>C | CA515391245 | ARSA | c.1371C>G (p.Ala457=) c.1113C>G (p.Ala371=) c.180+59C>G c.*104C>G (n.*104C>G) c.1485C>G (p.Ala495=) | |
| 22 | g.50625304G>T | CA515391243 | ARSA | c.1371C>A (p.Ala457=) c.1113C>A (p.Ala371=) c.180+59C>A c.*104C>A (n.*104C>A) c.1485C>A (p.Ala495=) | |
| 22 | g.50625305G>A | CA412168142 | ARSA | c.1370C>T (p.Ala457Val) c.1112C>T (p.Ala371Val) c.180+58C>T c.*103C>T (n.*103C>T) c.1484C>T (p.Ala495Val) | ClinVar |
| 22 | g.50625305G>C | CA412168144 | ARSA | c.1370C>G (p.Ala457Gly) c.1112C>G (p.Ala371Gly) c.180+58C>G c.*103C>G (n.*103C>G) c.1484C>G (p.Ala495Gly) | |
| 22 | g.50625305G>T | CA412168148 | ARSA | c.1370C>A (p.Ala457Asp) c.1112C>A (p.Ala371Asp) c.180+58C>A c.*103C>A (n.*103C>A) c.1484C>A (p.Ala495Asp) | |
| 22 | g.50625306C>A | CA412168158 | ARSA | c.1369G>T (p.Ala457Ser) c.1111G>T (p.Ala371Ser) c.180+57G>T c.*102G>T (n.*102G>T) c.1483G>T (p.Ala495Ser) | dbSNP |
| 22 | g.50625306C= | CA2410958411 | ARSA | c.1369G= (p.Ala457=) c.1111G= (p.Ala371=) c.180+57G= c.*102G= (n.*102G=) c.1483G= (p.Ala495=) | |
| 22 | g.50625306C>G | CA412168152 | ARSA | c.1369G>C (p.Ala457Pro) c.1111G>C (p.Ala371Pro) c.180+57G>C c.*102G>C (n.*102G>C) c.1483G>C (p.Ala495Pro) | |
| 22 | g.50625306C>T | CA10324738 | ARSA | c.1369G>A (p.Ala457Thr) c.1111G>A (p.Ala371Thr) c.180+57G>A c.*102G>A (n.*102G>A) c.1483G>A (p.Ala495Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625307T>A | CA412168162 | ARSA | c.1368A>T (p.Gln456His) c.1110A>T (p.Gln370His) c.180+56A>T c.*101A>T (n.*101A>T) c.1482A>T (p.Gln494His) | |
| 22 | g.50625307T>C | CA515391253 | ARSA | c.1368A>G (p.Gln456=) c.1110A>G (p.Gln370=) c.180+56A>G c.*101A>G (n.*101A>G) c.1482A>G (p.Gln494=) | |
| 22 | g.50625307T>G | CA412168165 | ARSA | c.1368A>C (p.Gln456His) c.1110A>C (p.Gln370His) c.180+56A>C c.*101A>C (n.*101A>C) c.1482A>C (p.Gln494His) | |
| 22 | g.50625308T>A | CA412168168 | ARSA | c.1367A>T (p.Gln456Leu) c.1109A>T (p.Gln370Leu) c.180+55A>T c.*100A>T (n.*100A>T) c.1481A>T (p.Gln494Leu) | |
| 22 | g.50625308T>C | CA412168171 | ARSA | c.1367A>G (p.Gln456Arg) c.1109A>G (p.Gln370Arg) c.180+55A>G c.*100A>G (n.*100A>G) c.1481A>G (p.Gln494Arg) | gnomAD v4 |
| 22 | g.50625308T>G | CA412168174 | ARSA | c.1367A>C (p.Gln456Pro) c.1109A>C (p.Gln370Pro) c.180+55A>C c.*100A>C (n.*100A>C) c.1481A>C (p.Gln494Pro) | |
| 22 | g.50625309G>A | CA412168178 | ARSA | c.1366C>T (p.Gln456Ter) c.1108C>T (p.Gln370Ter) c.180+54C>T c.*99C>T (n.*99C>T) c.1480C>T (p.Gln494Ter) | ClinVar dbSNP |
| 22 | g.50625309G>C | CA412168187 | ARSA | c.1366C>G (p.Gln456Glu) c.1108C>G (p.Gln370Glu) c.180+54C>G c.*99C>G (n.*99C>G) c.1480C>G (p.Gln494Glu) | |
| 22 | g.50625309G= | CA2410958412 | ARSA | c.1366C= (p.Gln456=) c.1108C= (p.Gln370=) c.180+54C= c.*99C= (n.*99C=) c.1480C= (p.Gln494=) | |
| 22 | g.50625309G>T | CA412168191 | ARSA | c.1366C>A (p.Gln456Lys) c.1108C>A (p.Gln370Lys) c.180+54C>A c.*99C>A (n.*99C>A) c.1480C>A (p.Gln494Lys) | |
| 22 | g.50625310C>A | CA515391257 | ARSA | c.1365G>T (p.Leu455=) c.1107G>T (p.Leu369=) c.180+53G>T c.*98G>T (n.*98G>T) c.1479G>T (p.Leu493=) | |
| 22 | g.50625310C= | CA2410958413 | ARSA | c.1365G= (p.Leu455=) c.1107G= (p.Leu369=) c.180+53G= c.*98G= (n.*98G=) c.1479G= (p.Leu493=) | |
| 22 | g.50625310C>G | CA515391258 | ARSA | c.1365G>C (p.Leu455=) c.1107G>C (p.Leu369=) c.180+53G>C c.*98G>C (n.*98G>C) c.1479G>C (p.Leu493=) | |
| 22 | g.50625310C>T | CA515391260 | ARSA | c.1365G>A (p.Leu455=) c.1107G>A (p.Leu369=) c.180+53G>A c.*98G>A (n.*98G>A) c.1479G>A (p.Leu493=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625311A>C | CA412168195 | ARSA | c.1364T>G (p.Leu455Arg) c.1106T>G (p.Leu369Arg) c.180+52T>G c.*97T>G (n.*97T>G) c.1478T>G (p.Leu493Arg) | |
| 22 | g.50625311A>G | CA412168197 | ARSA | c.1364T>C (p.Leu455Pro) c.1106T>C (p.Leu369Pro) c.180+52T>C c.*97T>C (n.*97T>C) c.1478T>C (p.Leu493Pro) | |
| 22 | g.50625311A>T | CA412168201 | ARSA | c.1364T>A (p.Leu455Gln) c.1106T>A (p.Leu369Gln) c.180+52T>A c.*97T>A (n.*97T>A) c.1478T>A (p.Leu493Gln) | |
| 22 | g.50625312G>A | CA515391264 | ARSA | c.1363C>T (p.Leu455=) c.1105C>T (p.Leu369=) c.180+51C>T c.*96C>T (n.*96C>T) c.1477C>T (p.Leu493=) | ClinVar dbSNP |
| 22 | g.50625312G>C | CA412168210 | ARSA | c.1363C>G (p.Leu455Val) c.1105C>G (p.Leu369Val) c.180+51C>G c.*96C>G (n.*96C>G) c.1477C>G (p.Leu493Val) | |
| 22 | g.50625312G= | CA2410958414 | ARSA | c.1363C= (p.Leu455=) c.1105C= (p.Leu369=) c.180+51C= c.*96C= (n.*96C=) c.1477C= (p.Leu493=) | |
| 22 | g.50625312G>T | CA412168209 | ARSA | c.1363C>A (p.Leu455Met) c.1105C>A (p.Leu369Met) c.180+51C>A c.*96C>A (n.*96C>A) c.1477C>A (p.Leu493Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625313C>A | CA515391266 | ARSA | c.1362G>T (p.Val454=) c.1104G>T (p.Val368=) c.180+50G>T c.*95G>T (n.*95G>T) c.1476G>T (p.Val492=) | |
| 22 | g.50625313C>G | CA515391267 | ARSA | c.1362G>C (p.Val454=) c.1104G>C (p.Val368=) c.180+50G>C c.*95G>C (n.*95G>C) c.1476G>C (p.Val492=) | |
| 22 | g.50625313C>T | CA515391268 | ARSA | c.1362G>A (p.Val454=) c.1104G>A (p.Val368=) c.180+50G>A c.*95G>A (n.*95G>A) c.1476G>A (p.Val492=) | |
| 22 | g.50625314A= | CA2410958415 | ARSA | c.1361T= (p.Val454=) c.1103T= (p.Val368=) c.180+49T= c.*94T= (n.*94T=) c.1475T= (p.Val492=) | |
| 22 | g.50625314A>C | CA412168213 | ARSA | c.1361T>G (p.Val454Gly) c.1103T>G (p.Val368Gly) c.180+49T>G c.*94T>G (n.*94T>G) c.1475T>G (p.Val492Gly) | dbSNP |
| 22 | g.50625314A>G | CA412168219 | ARSA | c.1361T>C (p.Val454Ala) c.1103T>C (p.Val368Ala) c.180+49T>C c.*94T>C (n.*94T>C) c.1475T>C (p.Val492Ala) | |
| 22 | g.50625314A>T | CA412168216 | ARSA | c.1361T>A (p.Val454Glu) c.1103T>A (p.Val368Glu) c.180+49T>A c.*94T>A (n.*94T>A) c.1475T>A (p.Val492Glu) | |
| 22 | g.50625315C>A | CA412168226 | ARSA | c.1360G>T (p.Val454Leu) c.1102G>T (p.Val368Leu) c.180+48G>T c.*93G>T (n.*93G>T) c.1474G>T (p.Val492Leu) | dbSNP |
| 22 | g.50625315C= | CA2410958416 | ARSA | c.1360G= (p.Val454=) c.1102G= (p.Val368=) c.180+48G= c.*93G= (n.*93G=) c.1474G= (p.Val492=) | |
| 22 | g.50625315C>G | CA412168228 | ARSA | c.1360G>C (p.Val454Leu) c.1102G>C (p.Val368Leu) c.180+48G>C c.*93G>C (n.*93G>C) c.1474G>C (p.Val492Leu) | |
| 22 | g.50625315C>T | CA412168230 | ARSA | c.1360G>A (p.Val454Met) c.1102G>A (p.Val368Met) c.180+48G>A c.*93G>A (n.*93G>A) c.1474G>A (p.Val492Met) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625316C>A | CA412168233 | ARSA | c.1359G>T (p.Glu453Asp) c.1101G>T (p.Glu367Asp) c.180+47G>T c.*92G>T (n.*92G>T) c.1473G>T (p.Glu491Asp) | |
| 22 | g.50625316C= | CA2410958417 | ARSA | c.1359G= (p.Glu453=) c.1101G= (p.Glu367=) c.180+47G= c.*92G= (n.*92G=) c.1473G= (p.Glu491=) | |
| 22 | g.50625316C>G | CA412168237 | ARSA | c.1359G>C (p.Glu453Asp) c.1101G>C (p.Glu367Asp) c.180+47G>C c.*92G>C (n.*92G>C) c.1473G>C (p.Glu491Asp) | |
| 22 | g.50625316C>T | CA515391277 | ARSA | c.1359G>A (p.Glu453=) c.1101G>A (p.Glu367=) c.180+47G>A c.*92G>A (n.*92G>A) c.1473G>A (p.Glu491=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625317T>A | CA412168238 | ARSA | c.1358A>T (p.Glu453Val) c.1100A>T (p.Glu367Val) c.180+46A>T c.*91A>T (n.*91A>T) c.1472A>T (p.Glu491Val) | |
| 22 | g.50625317T>C | CA412168239 | ARSA | c.1358A>G (p.Glu453Gly) c.1100A>G (p.Glu367Gly) c.180+46A>G c.*91A>G (n.*91A>G) c.1472A>G (p.Glu491Gly) | gnomAD v4 |
| 22 | g.50625317T>G | CA412168241 | ARSA | c.1358A>C (p.Glu453Ala) c.1100A>C (p.Glu367Ala) c.180+46A>C c.*91A>C (n.*91A>C) c.1472A>C (p.Glu491Ala) | gnomAD v4 |
| 22 | g.50625318C>A | CA412168249 | ARSA | c.1357G>T (p.Glu453Ter) c.1099G>T (p.Glu367Ter) c.180+45G>T c.*90G>T (n.*90G>T) c.1471G>T (p.Glu491Ter) | |
| 22 | g.50625318C= | CA2410958418 | ARSA | c.1357G= (p.Glu453=) c.1099G= (p.Glu367=) c.180+45G= c.*90G= (n.*90G=) c.1471G= (p.Glu491=) | |
| 22 | g.50625318C>G | CA412168252 | ARSA | c.1357G>C (p.Glu453Gln) c.1099G>C (p.Glu367Gln) c.180+45G>C c.*90G>C (n.*90G>C) c.1471G>C (p.Glu491Gln) | dbSNP gnomAD v4 |
| 22 | g.50625318C>T | CA412168253 | ARSA | c.1357G>A (p.Glu453Lys) c.1099G>A (p.Glu367Lys) c.180+45G>A c.*90G>A (n.*90G>A) c.1471G>A (p.Glu491Lys) | |
| 22 | g.50625319T>A | CA515391281 | ARSA | c.1356A>T (p.Pro452=) c.1098A>T (p.Pro366=) c.180+44A>T c.*89A>T (n.*89A>T) c.1470A>T (p.Pro490=) | |
| 22 | g.50625319T>C | CA515391283 | ARSA | c.1356A>G (p.Pro452=) c.1098A>G (p.Pro366=) c.180+44A>G c.*89A>G (n.*89A>G) c.1470A>G (p.Pro490=) | gnomAD v4 |
| 22 | g.50625319T>G | CA515391285 | ARSA | c.1356A>C (p.Pro452=) c.1098A>C (p.Pro366=) c.180+44A>C c.*89A>C (n.*89A>C) c.1470A>C (p.Pro490=) | gnomAD v4 |
| 22 | g.50625320G>A | CA10324739 | ARSA | c.1355C>T (p.Pro452Leu) c.1097C>T (p.Pro366Leu) c.180+43C>T c.*88C>T (n.*88C>T) c.1469C>T (p.Pro490Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625320G>C | CA412168256 | ARSA | c.1355C>G (p.Pro452Arg) c.1097C>G (p.Pro366Arg) c.180+43C>G c.*88C>G (n.*88C>G) c.1469C>G (p.Pro490Arg) | gnomAD v4 |
| 22 | g.50625320G= | CA2410958419 | ARSA | c.1355C= (p.Pro452=) c.1097C= (p.Pro366=) c.180+43C= c.*88C= (n.*88C=) c.1469C= (p.Pro490=) | |
| 22 | g.50625320G>T | CA412168254 | ARSA | c.1355C>A (p.Pro452Gln) c.1097C>A (p.Pro366Gln) c.180+43C>A c.*88C>A (n.*88C>A) c.1469C>A (p.Pro490Gln) | |
| 22 | g.50625321G>A | CA412168264 | ARSA | c.1354C>T (p.Pro452Ser) c.1096C>T (p.Pro366Ser) c.180+42C>T c.*87C>T (n.*87C>T) c.1468C>T (p.Pro490Ser) | |
| 22 | g.50625321G>C | CA412168269 | ARSA | c.1354C>G (p.Pro452Ala) c.1096C>G (p.Pro366Ala) c.180+42C>G c.*87C>G (n.*87C>G) c.1468C>G (p.Pro490Ala) | |
| 22 | g.50625321G>T | CA412168270 | ARSA | c.1354C>A (p.Pro452Thr) c.1096C>A (p.Pro366Thr) c.180+42C>A c.*87C>A (n.*87C>A) c.1468C>A (p.Pro490Thr) | |
| 22 | g.50625322G>A | CA515391288 | ARSA | c.1353C>T (p.Thr451=) c.1095C>T (p.Thr365=) c.180+41C>T c.*86C>T (n.*86C>T) c.1467C>T (p.Thr489=) | |
| 22 | g.50625322G>C | CA515391289 | ARSA | c.1353C>G (p.Thr451=) c.1095C>G (p.Thr365=) c.180+41C>G c.*86C>G (n.*86C>G) c.1467C>G (p.Thr489=) | |
| 22 | g.50625322G= | CA2410958420 | ARSA | c.1353C= (p.Thr451=) c.1095C= (p.Thr365=) c.180+41C= c.*86C= (n.*86C=) c.1467C= (p.Thr489=) | |
| 22 | g.50625322G>T | CA515391290 | ARSA | c.1353C>A (p.Thr451=) c.1095C>A (p.Thr365=) c.180+41C>A c.*86C>A (n.*86C>A) c.1467C>A (p.Thr489=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625323G>A | CA412168272 | ARSA | c.1352C>T (p.Thr451Ile) c.1094C>T (p.Thr365Ile) c.180+40C>T c.*85C>T (n.*85C>T) c.1466C>T (p.Thr489Ile) | gnomAD v4 |
| 22 | g.50625323G>C | CA412168273 | ARSA | c.1352C>G (p.Thr451Ser) c.1094C>G (p.Thr365Ser) c.180+40C>G c.*85C>G (n.*85C>G) c.1466C>G (p.Thr489Ser) | |
| 22 | g.50625323G>T | CA412168277 | ARSA | c.1352C>A (p.Thr451Asn) c.1094C>A (p.Thr365Asn) c.180+40C>A c.*85C>A (n.*85C>A) c.1466C>A (p.Thr489Asn) | |
| 22 | g.50625324T>A | CA412168280 | ARSA | c.1351A>T (p.Thr451Ser) c.1093A>T (p.Thr365Ser) c.180+39A>T c.*84A>T (n.*84A>T) c.1465A>T (p.Thr489Ser) | |
| 22 | g.50625324T>C | CA412168283 | ARSA | c.1351A>G (p.Thr451Ala) c.1093A>G (p.Thr365Ala) c.180+39A>G c.*84A>G (n.*84A>G) c.1465A>G (p.Thr489Ala) | |
| 22 | g.50625324T>G | CA412168289 | ARSA | c.1351A>C (p.Thr451Pro) c.1093A>C (p.Thr365Pro) c.180+39A>C c.*84A>C (n.*84A>C) c.1465A>C (p.Thr489Pro) | |
| 22 | g.50625325G>A | CA515391305 | ARSA | c.1350C>T (p.Ala450=) c.1092C>T (p.Ala364=) c.180+38C>T c.*83C>T (n.*83C>T) c.1464C>T (p.Ala488=) | |
| 22 | g.50625325G>C | CA515391301 | ARSA | c.1350C>G (p.Ala450=) c.1092C>G (p.Ala364=) c.180+38C>G c.*83C>G (n.*83C>G) c.1464C>G (p.Ala488=) | |
| 22 | g.50625325G>T | CA515391300 | ARSA | c.1350C>A (p.Ala450=) c.1092C>A (p.Ala364=) c.180+38C>A c.*83C>A (n.*83C>A) c.1464C>A (p.Ala488=) | |
| 22 | g.50625326G>A | CA412168295 | ARSA | c.1349C>T (p.Ala450Val) c.1091C>T (p.Ala364Val) c.180+37C>T c.*82C>T (n.*82C>T) c.1463C>T (p.Ala488Val) | |
| 22 | g.50625326G>C | CA412168299 | ARSA | c.1349C>G (p.Ala450Gly) c.1091C>G (p.Ala364Gly) c.180+37C>G c.*82C>G (n.*82C>G) c.1463C>G (p.Ala488Gly) | |
| 22 | g.50625326G>T | CA412168303 | ARSA | c.1349C>A (p.Ala450Asp) c.1091C>A (p.Ala364Asp) c.180+37C>A c.*82C>A (n.*82C>A) c.1463C>A (p.Ala488Asp) | |
| 22 | g.50625327C>A | CA412168311 | ARSA | c.1348G>T (p.Ala450Ser) c.1090G>T (p.Ala364Ser) c.180+36G>T c.*81G>T (n.*81G>T) c.1462G>T (p.Ala488Ser) | |
| 22 | g.50625327C>G | CA412168320 | ARSA | c.1348G>C (p.Ala450Pro) c.1090G>C (p.Ala364Pro) c.180+36G>C c.*81G>C (n.*81G>C) c.1462G>C (p.Ala488Pro) | |
| 22 | g.50625327C>T | CA412168315 | ARSA | c.1348G>A (p.Ala450Thr) c.1090G>A (p.Ala364Thr) c.180+36G>A c.*81G>A (n.*81G>A) c.1462G>A (p.Ala488Thr) | ClinVar dbSNP |
| 22 | g.50625330dup | CA913088700 | ARSA | c.1348dup (p.Ala450GlyfsTer?) c.1090dup (p.Ala364GlyfsTer?) c.180+36dup c.*81dup (n.*81dup) c.1462dup (p.Ala488GlyfsTer?) | |
| 22 | g.50625330del | CA2657590883 | ARSA | c.1348del (p.Ala450ProfsTer9) c.1090del (p.Ala364ProfsTer9) c.180+36del c.*81del (n.*81del) c.1462del (p.Ala488ProfsTer9) | gnomAD v4 |
| 22 | g.50625328C>A | CA515391311 | ARSA | c.1347G>T (p.Gly449=) c.1089G>T (p.Gly363=) c.180+35G>T c.*80G>T (n.*80G>T) c.1461G>T (p.Gly487=) | ClinVar gnomAD v4 |
| 22 | g.50625328C= | CA2410958421 | ARSA | c.1347G= (p.Gly449=) c.1089G= (p.Gly363=) c.180+35G= c.*80G= (n.*80G=) c.1461G= (p.Gly487=) | |
| 22 | g.50625328C>G | CA515391312 | ARSA | c.1347G>C (p.Gly449=) c.1089G>C (p.Gly363=) c.180+35G>C c.*80G>C (n.*80G>C) c.1461G>C (p.Gly487=) | |
| 22 | g.50625328C>T | CA515391313 | ARSA | c.1347G>A (p.Gly449=) c.1089G>A (p.Gly363=) c.180+35G>A c.*80G>A (n.*80G>A) c.1461G>A (p.Gly487=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625329C>A | CA412168326 | ARSA | c.1346G>T (p.Gly449Val) c.1088G>T (p.Gly363Val) c.180+34G>T c.*79G>T (n.*79G>T) c.1460G>T (p.Gly487Val) | |
| 22 | g.50625329C>G | CA412168343 | ARSA | c.1346G>C (p.Gly449Ala) c.1088G>C (p.Gly363Ala) c.180+34G>C c.*79G>C (n.*79G>C) c.1460G>C (p.Gly487Ala) | |
| 22 | g.50625329C>T | CA412168338 | ARSA | c.1346G>A (p.Gly449Glu) c.1088G>A (p.Gly363Glu) c.180+34G>A c.*79G>A (n.*79G>A) c.1460G>A (p.Gly487Glu) | |
| 22 | g.50625329_50625330insG | CA2695231021 | ARSA | c.1345_1346insC (p.Gly449AlafsTer?) c.1087_1088insC (p.Gly363AlafsTer?) c.180+33_180+34insC c.*78_*79insC (n.*78_*79insC) c.1459_1460insC (p.Gly487AlafsTer?) | |
| 22 | g.50625330C>A | CA412168351 | ARSA | c.1345G>T (p.Gly449Trp) c.1087G>T (p.Gly363Trp) c.180+33G>T c.*78G>T (n.*78G>T) c.1459G>T (p.Gly487Trp) | |
| 22 | g.50625330C= | CA2410958422 | ARSA | c.1345G= (p.Gly449=) c.1087G= (p.Gly363=) c.180+33G= c.*78G= (n.*78G=) c.1459G= (p.Gly487=) | |
| 22 | g.50625330C>G | CA412168356 | ARSA | c.1345G>C (p.Gly449Arg) c.1087G>C (p.Gly363Arg) c.180+33G>C c.*78G>C (n.*78G>C) c.1459G>C (p.Gly487Arg) | |
| 22 | g.50625330C>T | CA10324740 | ARSA | c.1345G>A (p.Gly449Arg) c.1087G>A (p.Gly363Arg) c.180+33G>A c.*78G>A (n.*78G>A) c.1459G>A (p.Gly487Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625331G>A | CA10324742 | ARSA | c.1344C>T (p.Ala448=) c.1086C>T (p.Ala362=) c.180+32C>T c.*77C>T (n.*77C>T) c.1458C>T (p.Ala486=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625331G>C | CA515391325 | ARSA | c.1344C>G (p.Ala448=) c.1086C>G (p.Ala362=) c.180+32C>G c.*77C>G (n.*77C>G) c.1458C>G (p.Ala486=) | |
| 22 | g.50625331G= | CA2410958423 | ARSA | c.1344C= (p.Ala448=) c.1086C= (p.Ala362=) c.180+32C= c.*77C= (n.*77C=) c.1458C= (p.Ala486=) | |
| 22 | g.50625331G>T | CA515391327 | ARSA | c.1344C>A (p.Ala448=) c.1086C>A (p.Ala362=) c.180+32C>A c.*77C>A (n.*77C>A) c.1458C>A (p.Ala486=) | |
| 22 | g.50625332dup | CA10324741 | ARSA | c.1344dup (p.Gly449ArgfsTer?) c.1086dup (p.Gly363ArgfsTer?) c.180+32dup c.*77dup (n.*77dup) c.1458dup (p.Gly487ArgfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625331_50625332dup | CA2695231022 | ARSA | c.1343_1344dup (p.Gly449ProfsTer11) c.1085_1086dup (p.Gly363ProfsTer11) c.180+31_180+32dup c.*76_*77dup (n.*76_*77dup) c.1457_1458dup (p.Gly487ProfsTer11) | |
| 22 | g.50625332G>A | CA412168362 | ARSA | c.1343C>T (p.Ala448Val) c.1085C>T (p.Ala362Val) c.180+31C>T c.*76C>T (n.*76C>T) c.1457C>T (p.Ala486Val) | gnomAD v4 |
| 22 | g.50625332G>C | CA412168366 | ARSA | c.1343C>G (p.Ala448Gly) c.1085C>G (p.Ala362Gly) c.180+31C>G c.*76C>G (n.*76C>G) c.1457C>G (p.Ala486Gly) | |
| 22 | g.50625332G>T | CA412168368 | ARSA | c.1343C>A (p.Ala448Asp) c.1085C>A (p.Ala362Asp) c.180+31C>A c.*76C>A (n.*76C>A) c.1457C>A (p.Ala486Asp) | |
| 22 | g.50625333C>A | CA412168371 | ARSA | c.1342G>T (p.Ala448Ser) c.1084G>T (p.Ala362Ser) c.180+30G>T c.*75G>T (n.*75G>T) c.1456G>T (p.Ala486Ser) | gnomAD v4 |
| 22 | g.50625333C= | CA2410958424 | ARSA | c.1342G= (p.Ala448=) c.1084G= (p.Ala362=) c.180+30G= c.*75G= (n.*75G=) c.1456G= (p.Ala486=) | |
| 22 | g.50625333C>G | CA412168375 | ARSA | c.1342G>C (p.Ala448Pro) c.1084G>C (p.Ala362Pro) c.180+30G>C c.*75G>C (n.*75G>C) c.1456G>C (p.Ala486Pro) | |
| 22 | g.50625333C>T | CA412168378 | ARSA | c.1342G>A (p.Ala448Thr) c.1084G>A (p.Ala362Thr) c.180+30G>A c.*75G>A (n.*75G>A) c.1456G>A (p.Ala486Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625334C>A | CA515391330 | ARSA | c.1341G>T (p.Val447=) c.1083G>T (p.Val361=) c.180+29G>T c.*74G>T (n.*74G>T) c.1455G>T (p.Val485=) | |
| 22 | g.50625334C>G | CA515391331 | ARSA | c.1341G>C (p.Val447=) c.1083G>C (p.Val361=) c.180+29G>C c.*74G>C (n.*74G>C) c.1455G>C (p.Val485=) | gnomAD v4 |
| 22 | g.50625334C>T | CA515391334 | ARSA | c.1341G>A (p.Val447=) c.1083G>A (p.Val361=) c.180+29G>A c.*74G>A (n.*74G>A) c.1455G>A (p.Val485=) | ClinVar |
| 22 | g.50625335A>C | CA412168383 | ARSA | c.1340T>G (p.Val447Gly) c.1082T>G (p.Val361Gly) c.180+28T>G c.*73T>G (n.*73T>G) c.1454T>G (p.Val485Gly) | |
| 22 | g.50625335A>G | CA412168403 | ARSA | c.1340T>C (p.Val447Ala) c.1082T>C (p.Val361Ala) c.180+28T>C c.*73T>C (n.*73T>C) c.1454T>C (p.Val485Ala) | |
| 22 | g.50625335A>T | CA412168392 | ARSA | c.1340T>A (p.Val447Glu) c.1082T>A (p.Val361Glu) c.180+28T>A c.*73T>A (n.*73T>A) c.1454T>A (p.Val485Glu) | |
| 22 | g.50625336C>A | CA412168412 | ARSA | c.1339G>T (p.Val447Leu) c.1081G>T (p.Val361Leu) c.180+27G>T c.*72G>T (n.*72G>T) c.1453G>T (p.Val485Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625336C= | CA2410958425 | ARSA | c.1339G= (p.Val447=) c.1081G= (p.Val361=) c.180+27G= c.*72G= (n.*72G=) c.1453G= (p.Val485=) | |
| 22 | g.50625336C>G | CA412168416 | ARSA | c.1339G>C (p.Val447Leu) c.1081G>C (p.Val361Leu) c.180+27G>C c.*72G>C (n.*72G>C) c.1453G>C (p.Val485Leu) | |
| 22 | g.50625336C>T | CA412168419 | ARSA | c.1339G>A (p.Val447Met) c.1081G>A (p.Val361Met) c.180+27G>A c.*72G>A (n.*72G>A) c.1453G>A (p.Val485Met) | gnomAD v4 |
| 22 | g.50625337del | CA2577767851 | ARSA | c.1338del (p.Val447TrpfsTer12) c.1080del (p.Val361TrpfsTer12) c.180+26del c.*71del (n.*71del) c.1452del (p.Val485TrpfsTer12) | |
| 22 | g.50625337A>C | CA515391342 | ARSA | c.1338T>G (p.Gly446=) c.1080T>G (p.Gly360=) c.180+26T>G c.*71T>G (n.*71T>G) c.1452T>G (p.Gly484=) | |
| 22 | g.50625337A>G | CA515391343 | ARSA | c.1338T>C (p.Gly446=) c.1080T>C (p.Gly360=) c.180+26T>C c.*71T>C (n.*71T>C) c.1452T>C (p.Gly484=) | |
| 22 | g.50625337A>T | CA515391344 | ARSA | c.1338T>A (p.Gly446=) c.1080T>A (p.Gly360=) c.180+26T>A c.*71T>A (n.*71T>A) c.1452T>A (p.Gly484=) | |
| 22 | g.50625337_50625338delinsAC | CA2410958426 | ARSA | c.1337_1338delinsGT (p.Gly446=) c.1079_1080delinsGT (p.Gly360=) c.180+25_180+26delinsGT c.*70_*71delinsGT (n.*70_*71delinsGT) c.1451_1452delinsGT (p.Gly484=) | |
| 22 | g.50625338C>A | CA412168438 | ARSA | c.1337G>T (p.Gly446Val) c.1079G>T (p.Gly360Val) c.180+25G>T c.*70G>T (n.*70G>T) c.1451G>T (p.Gly484Val) | gnomAD v4 |
| 22 | g.50625338C= | CA2410958427 | ARSA | c.1337G= (p.Gly446=) c.1079G= (p.Gly360=) c.180+25G= c.*70G= (n.*70G=) c.1451G= (p.Gly484=) | |
| 22 | g.50625338C>G | CA325531215 | ARSA | c.1337G>C (p.Gly446Ala) c.1079G>C (p.Gly360Ala) c.180+25G>C c.*70G>C (n.*70G>C) c.1451G>C (p.Gly484Ala) | dbSNP gnomAD v4 |
| 22 | g.50625338C>T | CA412168432 | ARSA | c.1337G>A (p.Gly446Asp) c.1079G>A (p.Gly360Asp) c.180+25G>A c.*70G>A (n.*70G>A) c.1451G>A (p.Gly484Asp) | dbSNP gnomAD v4 |
| 22 | g.50625343dup | CA10324743 | ARSA | c.1337dup (p.Val447CysfsTer?) c.1079dup (p.Val361CysfsTer?) c.180+25dup c.*70dup (n.*70dup) c.1451dup (p.Val485CysfsTer?) | dbSNP ExAC gnomAD v4 |
| 22 | g.50625343del | CA10324744 | ARSA | c.1337del (p.Gly446ValfsTer13) c.1079del (p.Gly360ValfsTer13) c.180+25del c.*70del (n.*70del) c.1451del (p.Gly484ValfsTer13) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625339C>A | CA412168444 | ARSA | c.1336G>T (p.Gly446Cys) c.1078G>T (p.Gly360Cys) c.180+24G>T c.*69G>T (n.*69G>T) c.1450G>T (p.Gly484Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625339C= | CA2410958428 | ARSA | c.1336G= (p.Gly446=) c.1078G= (p.Gly360=) c.180+24G= c.*69G= (n.*69G=) c.1450G= (p.Gly484=) | |
| 22 | g.50625339C>G | CA412168450 | ARSA | c.1336G>C (p.Gly446Arg) c.1078G>C (p.Gly360Arg) c.180+24G>C c.*69G>C (n.*69G>C) c.1450G>C (p.Gly484Arg) | gnomAD v4 |
| 22 | g.50625339C>T | CA412168454 | ARSA | c.1336G>A (p.Gly446Ser) c.1078G>A (p.Gly360Ser) c.180+24G>A c.*69G>A (n.*69G>A) c.1450G>A (p.Gly484Ser) | gnomAD v4 |
| 22 | g.50625340C>A | CA515391011 | ARSA | c.1335G>T (p.Gly445=) c.1077G>T (p.Gly359=) c.180+23G>T c.*68G>T (n.*68G>T) c.1449G>T (p.Gly483=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625340C= | CA2410958429 | ARSA | c.1335G= (p.Gly445=) c.1077G= (p.Gly359=) c.180+23G= c.*68G= (n.*68G=) c.1449G= (p.Gly483=) | |
| 22 | g.50625340C>G | CA515391014 | ARSA | c.1335G>C (p.Gly445=) c.1077G>C (p.Gly359=) c.180+23G>C c.*68G>C (n.*68G>C) c.1449G>C (p.Gly483=) | ClinVar |
| 22 | g.50625340C>T | CA515391015 | ARSA | c.1335G>A (p.Gly445=) c.1077G>A (p.Gly359=) c.180+23G>A c.*68G>A (n.*68G>A) c.1449G>A (p.Gly483=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625341C>A | CA247538 | ARSA | c.1334G>T (p.Gly445Val) c.1076G>T (p.Gly359Val) c.180+22G>T c.*67G>T (n.*67G>T) c.1448G>T (p.Gly483Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625341C= | CA2410958430 | ARSA | c.1334G= (p.Gly445=) c.1076G= (p.Gly359=) c.180+22G= c.*67G= (n.*67G=) c.1448G= (p.Gly483=) | |
| 22 | g.50625341C>G | CA412168458 | ARSA | c.1334G>C (p.Gly445Ala) c.1076G>C (p.Gly359Ala) c.180+22G>C c.*67G>C (n.*67G>C) c.1448G>C (p.Gly483Ala) | |
| 22 | g.50625341C>T | CA412168459 | ARSA | c.1334G>A (p.Gly445Glu) c.1076G>A (p.Gly359Glu) c.180+22G>A c.*67G>A (n.*67G>A) c.1448G>A (p.Gly483Glu) | |
| 22 | g.50625342C>A | CA412168464 | ARSA | c.1333G>T (p.Gly445Trp) c.1075G>T (p.Gly359Trp) c.180+21G>T c.*66G>T (n.*66G>T) c.1447G>T (p.Gly483Trp) | |
| 22 | g.50625342C>G | CA412168466 | ARSA | c.1333G>C (p.Gly445Arg) c.1075G>C (p.Gly359Arg) c.180+21G>C c.*66G>C (n.*66G>C) c.1447G>C (p.Gly483Arg) | |
| 22 | g.50625342C>T | CA412168471 | ARSA | c.1333G>A (p.Gly445Arg) c.1075G>A (p.Gly359Arg) c.180+21G>A c.*66G>A (n.*66G>A) c.1447G>A (p.Gly483Arg) | |
| 22 | g.50625343C>A | CA10324745 | ARSA | c.1332G>T (p.Leu444=) c.1074G>T (p.Leu358=) c.180+20G>T c.*65G>T (n.*65G>T) c.1446G>T (p.Leu482=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.50625343C= | CA2410958431 | ARSA | c.1332G= (p.Leu444=) c.1074G= (p.Leu358=) c.180+20G= c.*65G= (n.*65G=) c.1446G= (p.Leu482=) | |
| 22 | g.50625343C>G | CA515391025 | ARSA | c.1332G>C (p.Leu444=) c.1074G>C (p.Leu358=) c.180+20G>C c.*65G>C (n.*65G>C) c.1446G>C (p.Leu482=) | dbSNP |
| 22 | g.50625343C>T | CA515391029 | ARSA | c.1332G>A (p.Leu444=) c.1074G>A (p.Leu358=) c.180+20G>A c.*65G>A (n.*65G>A) c.1446G>A (p.Leu482=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625344A>C | CA412168485 | ARSA | c.1331T>G (p.Leu444Arg) c.1073T>G (p.Leu358Arg) c.180+19T>G c.*64T>G (n.*64T>G) c.1445T>G (p.Leu482Arg) | |
| 22 | g.50625344A>G | CA412168480 | ARSA | c.1331T>C (p.Leu444Pro) c.1073T>C (p.Leu358Pro) c.180+19T>C c.*64T>C (n.*64T>C) c.1445T>C (p.Leu482Pro) | gnomAD v4 |
| 22 | g.50625344A>T | CA412168483 | ARSA | c.1331T>A (p.Leu444Gln) c.1073T>A (p.Leu358Gln) c.180+19T>A c.*64T>A (n.*64T>A) c.1445T>A (p.Leu482Gln) | |
| 22 | g.50625345G>A | CA515391040 | ARSA | c.1330C>T (p.Leu444=) c.1072C>T (p.Leu358=) c.180+18C>T c.*63C>T (n.*63C>T) c.1444C>T (p.Leu482=) | ClinVar |
| 22 | g.50625345G>C | CA412168491 | ARSA | c.1330C>G (p.Leu444Val) c.1072C>G (p.Leu358Val) c.180+18C>G c.*63C>G (n.*63C>G) c.1444C>G (p.Leu482Val) | gnomAD v4 |
| 22 | g.50625345G>T | CA412168494 | ARSA | c.1330C>A (p.Leu444Met) c.1072C>A (p.Leu358Met) c.180+18C>A c.*63C>A (n.*63C>A) c.1444C>A (p.Leu482Met) | |
| 22 | g.50625345dup | CA2580100048 | ARSA | c.1330dup (p.Leu444ProfsTer?) c.1072dup (p.Leu358ProfsTer?) c.180+18dup c.*63dup (n.*63dup) c.1444dup (p.Leu482ProfsTer?) | ClinVar |
| 22 | g.50625346C>A | CA515391041 | ARSA | c.1329G>T (p.Leu443=) c.1071G>T (p.Leu357=) c.180+17G>T c.*62G>T (n.*62G>T) c.1443G>T (p.Leu481=) | ClinVar dbSNP |
| 22 | g.50625346C= | CA2410958432 | ARSA | c.1329G= (p.Leu443=) c.1071G= (p.Leu357=) c.180+17G= c.*62G= (n.*62G=) c.1443G= (p.Leu481=) | |
| 22 | g.50625346C>G | CA515391042 | ARSA | c.1329G>C (p.Leu443=) c.1071G>C (p.Leu357=) c.180+17G>C c.*62G>C (n.*62G>C) c.1443G>C (p.Leu481=) | |
| 22 | g.50625346C>T | CA10324746 | ARSA | c.1329G>A (p.Leu443=) c.1071G>A (p.Leu357=) c.180+17G>A c.*62G>A (n.*62G>A) c.1443G>A (p.Leu481=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625347A= | CA2410958433 | ARSA | c.1328T= (p.Leu443=) c.1070T= (p.Leu357=) c.180+16T= c.*61T= (n.*61T=) c.1442T= (p.Leu481=) | |
| 22 | g.50625347A>C | CA412168500 | ARSA | c.1328T>G (p.Leu443Arg) c.1070T>G (p.Leu357Arg) c.180+16T>G c.*61T>G (n.*61T>G) c.1442T>G (p.Leu481Arg) | |
| 22 | g.50625347A>G | CA412168503 | ARSA | c.1328T>C (p.Leu443Pro) c.1070T>C (p.Leu357Pro) c.180+16T>C c.*61T>C (n.*61T>C) c.1442T>C (p.Leu481Pro) | dbSNP gnomAD v2 |
| 22 | g.50625347A>T | CA412168507 | ARSA | c.1328T>A (p.Leu443Gln) c.1070T>A (p.Leu357Gln) c.180+16T>A c.*61T>A (n.*61T>A) c.1442T>A (p.Leu481Gln) | |
| 22 | g.50625348G>A | CA515391045 | ARSA | c.1327C>T (p.Leu443=) c.1069C>T (p.Leu357=) c.180+15C>T c.*60C>T (n.*60C>T) c.1441C>T (p.Leu481=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625348G>C | CA412168513 | ARSA | c.1327C>G (p.Leu443Val) c.1069C>G (p.Leu357Val) c.180+15C>G c.*60C>G (n.*60C>G) c.1441C>G (p.Leu481Val) | |
| 22 | g.50625348G= | CA2410958434 | ARSA | c.1327C= (p.Leu443=) c.1069C= (p.Leu357=) c.180+15C= c.*60C= (n.*60C=) c.1441C= (p.Leu481=) | |
| 22 | g.50625348G>T | CA412168518 | ARSA | c.1327C>A (p.Leu443Met) c.1069C>A (p.Leu357Met) c.180+15C>A c.*60C>A (n.*60C>A) c.1441C>A (p.Leu481Met) | |
| 22 | g.50625349G>A | CA515391048 | ARSA | c.1326C>T (p.Asn442=) c.1068C>T (p.Asn356=) c.180+14C>T c.*59C>T (n.*59C>T) c.1440C>T (p.Asn480=) | |
| 22 | g.50625349G>C | CA412168532 | ARSA | c.1326C>G (p.Asn442Lys) c.1068C>G (p.Asn356Lys) c.180+14C>G c.*59C>G (n.*59C>G) c.1440C>G (p.Asn480Lys) | |
| 22 | g.50625349G>T | CA412168544 | ARSA | c.1326C>A (p.Asn442Lys) c.1068C>A (p.Asn356Lys) c.180+14C>A c.*59C>A (n.*59C>A) c.1440C>A (p.Asn480Lys) | |
| 22 | g.50625350T>A | CA412168553 | ARSA | c.1325A>T (p.Asn442Ile) c.1067A>T (p.Asn356Ile) c.180+13A>T c.*58A>T (n.*58A>T) c.1439A>T (p.Asn480Ile) | |
| 22 | g.50625350T>C | CA10324747 | ARSA | c.1325A>G (p.Asn442Ser) c.1067A>G (p.Asn356Ser) c.180+13A>G c.*58A>G (n.*58A>G) c.1439A>G (p.Asn480Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625350T>G | CA412168549 | ARSA | c.1325A>C (p.Asn442Thr) c.1067A>C (p.Asn356Thr) c.180+13A>C c.*58A>C (n.*58A>C) c.1439A>C (p.Asn480Thr) | |
| 22 | g.50625350T= | CA2410958435 | ARSA | c.1325A= (p.Asn442=) c.1067A= (p.Asn356=) c.180+13A= c.*58A= (n.*58A=) c.1439A= (p.Asn480=) | |
| 22 | g.50625351T>A | CA412168561 | ARSA | c.1324A>T (p.Asn442Tyr) c.1066A>T (p.Asn356Tyr) c.180+12A>T c.*57A>T (n.*57A>T) c.1438A>T (p.Asn480Tyr) | gnomAD v4 |
| 22 | g.50625351T>C | CA412168566 | ARSA | c.1324A>G (p.Asn442Asp) c.1066A>G (p.Asn356Asp) c.180+12A>G c.*57A>G (n.*57A>G) c.1438A>G (p.Asn480Asp) | |
| 22 | g.50625351T>G | CA412168569 | ARSA | c.1324A>C (p.Asn442His) c.1066A>C (p.Asn356His) c.180+12A>C c.*57A>C (n.*57A>C) c.1438A>C (p.Asn480His) | |
| 22 | g.50625351_50625352delinsTG | CA2410958436 | ARSA | c.1323_1324delinsCA (p.Tyr441=) c.1065_1066delinsCA (p.Tyr355=) c.180+11_180+12delinsCA c.*56_*57delinsCA (n.*56_*57delinsCA) c.1437_1438delinsCA (p.Tyr479=) | |
| 22 | g.50625352_50625353del | CA913088701 | ARSA | c.1323_1324del (p.Tyr441Ter) c.1065_1066del (p.Tyr355Ter) c.180+11_180+12del c.*56_*57del (n.*56_*57del) c.1437_1438del (p.Tyr479Ter) | |
| 22 | g.50625352del | CA658824682 | ARSA | c.1323del (p.Tyr441Ter) c.1065del (p.Tyr355Ter) c.180+11del c.*56del (n.*56del) c.1437del (p.Tyr479Ter) | ClinVar dbSNP |
| 22 | g.50625352G>A | CA515391057 | ARSA | c.1323C>T (p.Tyr441=) c.1065C>T (p.Tyr355=) c.180+11C>T c.*56C>T (n.*56C>T) c.1437C>T (p.Tyr479=) | |
| 22 | g.50625352G>C | CA412168576 | ARSA | c.1323C>G (p.Tyr441Ter) c.1065C>G (p.Tyr355Ter) c.180+11C>G c.*56C>G (n.*56C>G) c.1437C>G (p.Tyr479Ter) | |
| 22 | g.50625352G>T | CA412168579 | ARSA | c.1323C>A (p.Tyr441Ter) c.1065C>A (p.Tyr355Ter) c.180+11C>A c.*56C>A (n.*56C>A) c.1437C>A (p.Tyr479Ter) | |
| 22 | g.50625353T>A | CA412168590 | ARSA | c.1322A>T (p.Tyr441Phe) c.1064A>T (p.Tyr355Phe) c.180+10A>T c.*55A>T (n.*55A>T) c.1436A>T (p.Tyr479Phe) | |
| 22 | g.50625353T>C | CA412168585 | ARSA | c.1322A>G (p.Tyr441Cys) c.1064A>G (p.Tyr355Cys) c.180+10A>G c.*55A>G (n.*55A>G) c.1436A>G (p.Tyr479Cys) | |
| 22 | g.50625353T>G | CA412168587 | ARSA | c.1322A>C (p.Tyr441Ser) c.1064A>C (p.Tyr355Ser) c.180+10A>C c.*55A>C (n.*55A>C) c.1436A>C (p.Tyr479Ser) | |
| 22 | g.50625354A= | CA2410958437 | ARSA | c.1321T= (p.Tyr441=) c.1063T= (p.Tyr355=) c.180+9T= c.*54T= (n.*54T=) c.1435T= (p.Tyr479=) | |
| 22 | g.50625354A>C | CA412168597 | ARSA | c.1321T>G (p.Tyr441Asp) c.1063T>G (p.Tyr355Asp) c.180+9T>G c.*54T>G (n.*54T>G) c.1435T>G (p.Tyr479Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625354A>G | CA412168600 | ARSA | c.1321T>C (p.Tyr441His) c.1063T>C (p.Tyr355His) c.180+9T>C c.*54T>C (n.*54T>C) c.1435T>C (p.Tyr479His) | |
| 22 | g.50625354A>T | CA412168603 | ARSA | c.1321T>A (p.Tyr441Asn) c.1063T>A (p.Tyr355Asn) c.180+9T>A c.*54T>A (n.*54T>A) c.1435T>A (p.Tyr479Asn) | |
| 22 | g.50625355G>A | CA515391063 | ARSA | c.1320C>T (p.Asn440=) c.1062C>T (p.Asn354=) c.180+8C>T c.*53C>T (n.*53C>T) c.1434C>T (p.Asn478=) | |
| 22 | g.50625355G>C | CA412168608 | ARSA | c.1320C>G (p.Asn440Lys) c.1062C>G (p.Asn354Lys) c.180+8C>G c.*53C>G (n.*53C>G) c.1434C>G (p.Asn478Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.50625355G= | CA2410958438 | ARSA | c.1320C= (p.Asn440=) c.1062C= (p.Asn354=) c.180+8C= c.*53C= (n.*53C=) c.1434C= (p.Asn478=) | |
| 22 | g.50625355G>T | CA412168613 | ARSA | c.1320C>A (p.Asn440Lys) c.1062C>A (p.Asn354Lys) c.180+8C>A c.*53C>A (n.*53C>A) c.1434C>A (p.Asn478Lys) | |
| 22 | g.50625356T>A | CA412168617 | ARSA | c.1319A>T (p.Asn440Ile) c.1061A>T (p.Asn354Ile) c.180+7A>T c.*52A>T (n.*52A>T) c.1433A>T (p.Asn478Ile) | |
| 22 | g.50625356T>C | CA412168622 | ARSA | c.1319A>G (p.Asn440Ser) c.1061A>G (p.Asn354Ser) c.180+7A>G c.*52A>G (n.*52A>G) c.1433A>G (p.Asn478Ser) | |
| 22 | g.50625356T>G | CA412168621 | ARSA | c.1319A>C (p.Asn440Thr) c.1061A>C (p.Asn354Thr) c.180+7A>C c.*52A>C (n.*52A>C) c.1433A>C (p.Asn478Thr) | |
| 22 | g.50625357T>A | CA412168626 | ARSA | c.1318A>T (p.Asn440Tyr) c.1060A>T (p.Asn354Tyr) c.180+6A>T c.*51A>T (n.*51A>T) c.1432A>T (p.Asn478Tyr) | |
| 22 | g.50625357T>C | CA412168633 | ARSA | c.1318A>G (p.Asn440Asp) c.1060A>G (p.Asn354Asp) c.180+6A>G c.*51A>G (n.*51A>G) c.1432A>G (p.Asn478Asp) | |
| 22 | g.50625357T>G | CA412168630 | ARSA | c.1318A>C (p.Asn440His) c.1060A>C (p.Asn354His) c.180+6A>C c.*51A>C (n.*51A>C) c.1432A>C (p.Asn478His) | |
| 22 | g.50625358C>A | CA412168634 | ARSA | c.1317G>T (p.Glu439Asp) c.1059G>T (p.Glu353Asp) c.180+5G>T c.*50G>T (n.*50G>T) c.1431G>T (p.Glu477Asp) | |
| 22 | g.50625358C>G | CA412168635 | ARSA | c.1317G>C (p.Glu439Asp) c.1059G>C (p.Glu353Asp) c.180+5G>C c.*50G>C (n.*50G>C) c.1431G>C (p.Glu477Asp) | |
| 22 | g.50625358C>T | CA515391076 | ARSA | c.1317G>A (p.Glu439=) c.1059G>A (p.Glu353=) c.180+5G>A c.*50G>A (n.*50G>A) c.1431G>A (p.Glu477=) | ClinVar dbSNP |
| 22 | g.50625359T>A | CA412168636 | ARSA | c.1316A>T (p.Glu439Val) c.1058A>T (p.Glu353Val) c.180+4A>T c.*49A>T (n.*49A>T) c.1430A>T (p.Glu477Val) | |
| 22 | g.50625359T>C | CA412168638 | ARSA | c.1316A>G (p.Glu439Gly) c.1058A>G (p.Glu353Gly) c.180+4A>G c.*49A>G (n.*49A>G) c.1430A>G (p.Glu477Gly) | |
| 22 | g.50625359T>G | CA412168641 | ARSA | c.1316A>C (p.Glu439Ala) c.1058A>C (p.Glu353Ala) c.180+4A>C c.*49A>C (n.*49A>C) c.1430A>C (p.Glu477Ala) | |
| 22 | g.50625360C>A | CA412168646 | ARSA | c.1315G>T (p.Glu439Ter) c.1057G>T (p.Glu353Ter) c.180+3G>T c.*48G>T (n.*48G>T) c.1429G>T (p.Glu477Ter) | |
| 22 | g.50625360C>G | CA412168654 | ARSA | c.1315G>C (p.Glu439Gln) c.1057G>C (p.Glu353Gln) c.180+3G>C c.*48G>C (n.*48G>C) c.1429G>C (p.Glu477Gln) | |
| 22 | g.50625360C>T | CA412168659 | ARSA | c.1315G>A (p.Glu439Lys) c.1057G>A (p.Glu353Lys) c.180+3G>A c.*48G>A (n.*48G>A) c.1429G>A (p.Glu477Lys) | |
| 22 | g.50625361_50625362del | CA2657590893 | ARSA | c.1314_1315del (p.Asn440LeufsTer?) c.1056_1057del (p.Asn354LeufsTer?) c.180+2_180+3del c.*47_*48del (n.*47_*48del) c.1428_1429del (p.Asn478LeufsTer?) | ClinVar gnomAD v4 |