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.50625141del | CA2819316022 | ARSA | c.*7del (n.*7del) c.180+225del c.*270del (n.*270del) | |
| 22 | g.50625140G>A | CA2657590626 | ARSA | c.*5C>T (n.*5C>T) c.180+223C>T c.*268C>T (n.*268C>T) | gnomAD v4 |
| 22 | g.50625140G>C | CA2819316024 | ARSA | c.*5C>G (n.*5C>G) c.180+223C>G c.*268C>G (n.*268C>G) | |
| 22 | g.50625140G>T | CA2657590627 | ARSA | c.*5C>A (n.*5C>A) c.180+223C>A c.*268C>A (n.*268C>A) | gnomAD v4 |
| 22 | g.50625141G>A | CA2657590628 | ARSA | c.*4C>T (n.*4C>T) c.180+222C>T c.*267C>T (n.*267C>T) | gnomAD v4 |
| 22 | g.50625141G>T | CA2657590629 | ARSA | c.*4C>A (n.*4C>A) c.180+222C>A c.*267C>A (n.*267C>A) | gnomAD v4 |
| 22 | g.50625142C>A | CA2657590631 | ARSA | c.*3G>T (n.*3G>T) c.180+221G>T c.*266G>T (n.*266G>T) | gnomAD v4 |
| 22 | g.50625142C= | CA2410958335 | ARSA | c.*3G= (n.*3G=) c.180+221G= c.*266G= (n.*266G=) | |
| 22 | g.50625142C>G | CA2657590632 | ARSA | c.*3G>C (n.*3G>C) c.180+221G>C c.*266G>C (n.*266G>C) | gnomAD v4 |
| 22 | g.50625142C>T | CA640358551 | ARSA | c.*3G>A (n.*3G>A) c.180+221G>A c.*266G>A (n.*266G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625144del | CA2657590630 | ARSA | c.*3del (n.*3del) c.180+221del c.*266del (n.*266del) | gnomAD v4 |
| 22 | g.50625143C= | CA2410958336 | ARSA | c.*2G= (n.*2G=) c.180+220G= c.*265G= (n.*265G=) | |
| 22 | g.50625143C>T | CA325531145 | ARSA | c.*2G>A (n.*2G>A) c.180+220G>A c.*265G>A (n.*265G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625144C>A | CA2657590633 | ARSA | c.*1G>T (n.*1G>T) c.180+219G>T c.*264G>T (n.*264G>T) | gnomAD v4 |
| 22 | g.50625144C>T | CA2657590634 | ARSA | c.*1G>A (n.*1G>A) c.180+219G>A c.*264G>A (n.*264G>A) | gnomAD v4 |
| 22 | g.50625145T>A | CA412166545 | ARSA | c.1530A>T (p.Ter510Cys) c.1272A>T (p.Ter424Cys) c.180+218A>T c.*263A>T (n.*263A>T) c.1644A>T (p.Ter548Cys) | gnomAD v4 |
| 22 | g.50625145T>C | CA412166546 | ARSA | c.1530A>G (p.Ter510Trp) c.1272A>G (p.Ter424Trp) c.180+218A>G c.*263A>G (n.*263A>G) c.1644A>G (p.Ter548Trp) | gnomAD v4 |
| 22 | g.50625145T>G | CA412166547 | ARSA | c.1530A>C (p.Ter510Cys) c.1272A>C (p.Ter424Cys) c.180+218A>C c.*263A>C (n.*263A>C) c.1644A>C (p.Ter548Cys) | |
| 22 | g.50625146C>A | CA412166551 | ARSA | c.1529G>T (p.Ter510Leu) c.1271G>T (p.Ter424Leu) c.180+217G>T c.*262G>T (n.*262G>T) c.1643G>T (p.Ter548Leu) | gnomAD v4 |
| 22 | g.50625146C>G | CA412166549 | ARSA | c.1529G>C (p.Ter510Ser) c.1271G>C (p.Ter424Ser) c.180+217G>C c.*262G>C (n.*262G>C) c.1643G>C (p.Ter548Ser) | |
| 22 | g.50625146C>T | CA515390741 | ARSA | c.1529G>A (p.Ter510=) c.1271G>A (p.Ter424=) c.180+217G>A c.*262G>A (n.*262G>A) c.1643G>A (p.Ter548=) | gnomAD v4 |
| 22 | g.50625147A>C | CA412166558 | ARSA | c.1528T>G (p.Ter510Gly) c.1270T>G (p.Ter424Gly) c.180+216T>G c.*261T>G (n.*261T>G) c.1642T>G (p.Ter548Gly) | |
| 22 | g.50625147A>G | CA412166561 | ARSA | c.1528T>C (p.Ter510Arg) c.1270T>C (p.Ter424Arg) c.180+216T>C c.*261T>C (n.*261T>C) c.1642T>C (p.Ter548Arg) | ClinVar gnomAD v4 |
| 22 | g.50625147A>T | CA412166563 | ARSA | c.1528T>A (p.Ter510Arg) c.1270T>A (p.Ter424Arg) c.180+216T>A c.*261T>A (n.*261T>A) c.1642T>A (p.Ter548Arg) | |
| 22 | g.50625148G>A | CA515390746 | ARSA | c.1527C>T (p.Ala509=) c.1269C>T (p.Ala423=) c.180+215C>T c.*260C>T (n.*260C>T) c.1641C>T (p.Ala547=) | gnomAD v4 |
| 22 | g.50625148G>C | CA515390743 | ARSA | c.1527C>G (p.Ala509=) c.1269C>G (p.Ala423=) c.180+215C>G c.*260C>G (n.*260C>G) c.1641C>G (p.Ala547=) | gnomAD v4 |
| 22 | g.50625148G= | CA2410958337 | ARSA | c.1527C= (p.Ala509=) c.1269C= (p.Ala423=) c.180+215C= c.*260C= (n.*260C=) c.1641C= (p.Ala547=) | |
| 22 | g.50625148G>T | CA515390745 | ARSA | c.1527C>A (p.Ala509=) c.1269C>A (p.Ala423=) c.180+215C>A c.*260C>A (n.*260C>A) c.1641C>A (p.Ala547=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625149G>A | CA412166564 | ARSA | c.1526C>T (p.Ala509Val) c.1268C>T (p.Ala423Val) c.180+214C>T c.*259C>T (n.*259C>T) c.1640C>T (p.Ala547Val) | gnomAD v4 |
| 22 | g.50625149G>C | CA412166566 | ARSA | c.1526C>G (p.Ala509Gly) c.1268C>G (p.Ala423Gly) c.180+214C>G c.*259C>G (n.*259C>G) c.1640C>G (p.Ala547Gly) | gnomAD v4 |
| 22 | g.50625149G>T | CA412166568 | ARSA | c.1526C>A (p.Ala509Asp) c.1268C>A (p.Ala423Asp) c.180+214C>A c.*259C>A (n.*259C>A) c.1640C>A (p.Ala547Asp) | gnomAD v4 |
| 22 | g.50625150C>A | CA412166573 | ARSA | c.1525G>T (p.Ala509Ser) c.1267G>T (p.Ala423Ser) c.180+213G>T c.*258G>T (n.*258G>T) c.1639G>T (p.Ala547Ser) | gnomAD v4 |
| 22 | g.50625150C>G | CA412166570 | ARSA | c.1525G>C (p.Ala509Pro) c.1267G>C (p.Ala423Pro) c.180+213G>C c.*258G>C (n.*258G>C) c.1639G>C (p.Ala547Pro) | gnomAD v4 |
| 22 | g.50625150C>T | CA412166571 | ARSA | c.1525G>A (p.Ala509Thr) c.1267G>A (p.Ala423Thr) c.180+213G>A c.*258G>A (n.*258G>A) c.1639G>A (p.Ala547Thr) | gnomAD v4 |
| 22 | g.50625151A= | CA2410958338 | ARSA | c.1524T= (p.His508=) c.1266T= (p.His422=) c.180+212T= c.*257T= (n.*257T=) c.1638T= (p.His546=) | |
| 22 | g.50625151A>C | CA10324714 | ARSA | c.1524T>G (p.His508Gln) c.1266T>G (p.His422Gln) c.180+212T>G c.*257T>G (n.*257T>G) c.1638T>G (p.His546Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625151A>G | CA515390754 | ARSA | c.1524T>C (p.His508=) c.1266T>C (p.His422=) c.180+212T>C c.*257T>C (n.*257T>C) c.1638T>C (p.His546=) | |
| 22 | g.50625151A>T | CA412166580 | ARSA | c.1524T>A (p.His508Gln) c.1266T>A (p.His422Gln) c.180+212T>A c.*257T>A (n.*257T>A) c.1638T>A (p.His546Gln) | |
| 22 | g.50625152T>A | CA412166584 | ARSA | c.1523A>T (p.His508Leu) c.1265A>T (p.His422Leu) c.180+211A>T c.*256A>T (n.*256A>T) c.1637A>T (p.His546Leu) | |
| 22 | g.50625152T>C | CA412166587 | ARSA | c.1523A>G (p.His508Arg) c.1265A>G (p.His422Arg) c.180+211A>G c.*256A>G (n.*256A>G) c.1637A>G (p.His546Arg) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625152T>G | CA412166591 | ARSA | c.1523A>C (p.His508Pro) c.1265A>C (p.His422Pro) c.180+211A>C c.*256A>C (n.*256A>C) c.1637A>C (p.His546Pro) | |
| 22 | g.50625152T= | CA2410958339 | ARSA | c.1523A= (p.His508=) c.1265A= (p.His422=) c.180+211A= c.*256A= (n.*256A=) c.1637A= (p.His546=) | |
| 22 | g.50625153G>A | CA412166594 | ARSA | c.1522C>T (p.His508Tyr) c.1264C>T (p.His422Tyr) c.180+210C>T c.*255C>T (n.*255C>T) c.1636C>T (p.His546Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625153G>C | CA412166599 | ARSA | c.1522C>G (p.His508Asp) c.1264C>G (p.His422Asp) c.180+210C>G c.*255C>G (n.*255C>G) c.1636C>G (p.His546Asp) | |
| 22 | g.50625153G= | CA2410958340 | ARSA | c.1522C= (p.His508=) c.1264C= (p.His422=) c.180+210C= c.*255C= (n.*255C=) c.1636C= (p.His546=) | |
| 22 | g.50625153G>T | CA412166596 | ARSA | c.1522C>A (p.His508Asn) c.1264C>A (p.His422Asn) c.180+210C>A c.*255C>A (n.*255C>A) c.1636C>A (p.His546Asn) | gnomAD v4 |
| 22 | g.50625156del | CA2657590635 | ARSA | c.1522del (p.His508MetfsTer12) c.1264del (p.His422MetfsTer12) c.180+210del c.*255del (n.*255del) c.1636del (p.His546MetfsTer12) | gnomAD v4 |
| 22 | g.50625154G>A | CA515390763 | ARSA | c.1521C>T (p.Pro507=) c.1263C>T (p.Pro421=) c.180+209C>T c.*254C>T (n.*254C>T) c.1635C>T (p.Pro545=) | dbSNP gnomAD v4 |
| 22 | g.50625154G>C | CA515390764 | ARSA | c.1521C>G (p.Pro507=) c.1263C>G (p.Pro421=) c.180+209C>G c.*254C>G (n.*254C>G) c.1635C>G (p.Pro545=) | |
| 22 | g.50625154G= | CA2410958341 | ARSA | c.1521C= (p.Pro507=) c.1263C= (p.Pro421=) c.180+209C= c.*254C= (n.*254C=) c.1635C= (p.Pro545=) | |
| 22 | g.50625154G>T | CA515390765 | ARSA | c.1521C>A (p.Pro507=) c.1263C>A (p.Pro421=) c.180+209C>A c.*254C>A (n.*254C>A) c.1635C>A (p.Pro545=) | gnomAD v4 COSMIC |
| 22 | g.50625155G>A | CA412166605 | ARSA | c.1520C>T (p.Pro507Leu) c.1262C>T (p.Pro421Leu) c.180+208C>T c.*253C>T (n.*253C>T) c.1634C>T (p.Pro545Leu) | gnomAD v4 |
| 22 | g.50625155G>C | CA412166608 | ARSA | c.1520C>G (p.Pro507Arg) c.1262C>G (p.Pro421Arg) c.180+208C>G c.*253C>G (n.*253C>G) c.1634C>G (p.Pro545Arg) | |
| 22 | g.50625155G>T | CA412166613 | ARSA | c.1520C>A (p.Pro507His) c.1262C>A (p.Pro421His) c.180+208C>A c.*253C>A (n.*253C>A) c.1634C>A (p.Pro545His) | gnomAD v4 |
| 22 | g.50625156G>A | CA412166617 | ARSA | c.1519C>T (p.Pro507Ser) c.1261C>T (p.Pro421Ser) c.180+207C>T c.*252C>T (n.*252C>T) c.1633C>T (p.Pro545Ser) | |
| 22 | g.50625156G>C | CA412166620 | ARSA | c.1519C>G (p.Pro507Ala) c.1261C>G (p.Pro421Ala) c.180+207C>G c.*252C>G (n.*252C>G) c.1633C>G (p.Pro545Ala) | |
| 22 | g.50625156G>T | CA412166623 | ARSA | c.1519C>A (p.Pro507Thr) c.1261C>A (p.Pro421Thr) c.180+207C>A c.*252C>A (n.*252C>A) c.1633C>A (p.Pro545Thr) | gnomAD v4 |
| 22 | g.50625157A>C | CA412166640 | ARSA | c.1518T>G (p.Asp506Glu) c.1260T>G (p.Asp420Glu) c.180+206T>G c.*251T>G (n.*251T>G) c.1632T>G (p.Asp544Glu) | |
| 22 | g.50625157A>G | CA515390768 | ARSA | c.1518T>C (p.Asp506=) c.1260T>C (p.Asp420=) c.180+206T>C c.*251T>C (n.*251T>C) c.1632T>C (p.Asp544=) | |
| 22 | g.50625157A>T | CA412166642 | ARSA | c.1518T>A (p.Asp506Glu) c.1260T>A (p.Asp420Glu) c.180+206T>A c.*251T>A (n.*251T>A) c.1632T>A (p.Asp544Glu) | |
| 22 | g.50625158T>A | CA412166643 | ARSA | c.1517A>T (p.Asp506Val) c.1259A>T (p.Asp420Val) c.180+205A>T c.*250A>T (n.*250A>T) c.1631A>T (p.Asp544Val) | gnomAD v4 |
| 22 | g.50625158T>C | CA412166644 | ARSA | c.1517A>G (p.Asp506Gly) c.1259A>G (p.Asp420Gly) c.180+205A>G c.*250A>G (n.*250A>G) c.1631A>G (p.Asp544Gly) | |
| 22 | g.50625158T>G | CA412166646 | ARSA | c.1517A>C (p.Asp506Ala) c.1259A>C (p.Asp420Ala) c.180+205A>C c.*250A>C (n.*250A>C) c.1631A>C (p.Asp544Ala) | |
| 22 | g.50625159C>A | CA10324715 | ARSA | c.1516G>T (p.Asp506Tyr) c.1258G>T (p.Asp420Tyr) c.180+204G>T c.*249G>T (n.*249G>T) c.1630G>T (p.Asp544Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625159C= | CA2410958342 | ARSA | c.1516G= (p.Asp506=) c.1258G= (p.Asp420=) c.180+204G= c.*249G= (n.*249G=) c.1630G= (p.Asp544=) | |
| 22 | g.50625159C>G | CA412166649 | ARSA | c.1516G>C (p.Asp506His) c.1258G>C (p.Asp420His) c.180+204G>C c.*249G>C (n.*249G>C) c.1630G>C (p.Asp544His) | gnomAD v4 |
| 22 | g.50625159C>T | CA412166648 | ARSA | c.1516G>A (p.Asp506Asn) c.1258G>A (p.Asp420Asn) c.180+204G>A c.*249G>A (n.*249G>A) c.1630G>A (p.Asp544Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625160T>A | CA515390773 | ARSA | c.1515A>T (p.Pro505=) c.1257A>T (p.Pro419=) c.180+203A>T c.*248A>T (n.*248A>T) c.1629A>T (p.Pro543=) | |
| 22 | g.50625160T>C | CA515390774 | ARSA | c.1515A>G (p.Pro505=) c.1257A>G (p.Pro419=) c.180+203A>G c.*248A>G (n.*248A>G) c.1629A>G (p.Pro543=) | gnomAD v4 |
| 22 | g.50625160T>G | CA515390775 | ARSA | c.1515A>C (p.Pro505=) c.1257A>C (p.Pro419=) c.180+203A>C c.*248A>C (n.*248A>C) c.1629A>C (p.Pro543=) | |
| 22 | g.50625161G>A | CA412166653 | ARSA | c.1514C>T (p.Pro505Leu) c.1256C>T (p.Pro419Leu) c.180+202C>T c.*247C>T (n.*247C>T) c.1628C>T (p.Pro543Leu) | gnomAD v4 |
| 22 | g.50625161G>C | CA412166659 | ARSA | c.1514C>G (p.Pro505Arg) c.1256C>G (p.Pro419Arg) c.180+202C>G c.*247C>G (n.*247C>G) c.1628C>G (p.Pro543Arg) | |
| 22 | g.50625161G>T | CA412166656 | ARSA | c.1514C>A (p.Pro505Gln) c.1256C>A (p.Pro419Gln) c.180+202C>A c.*247C>A (n.*247C>A) c.1628C>A (p.Pro543Gln) | gnomAD v4 |
| 22 | g.50625162G>A | CA412166664 | ARSA | c.1513C>T (p.Pro505Ser) c.1255C>T (p.Pro419Ser) c.180+201C>T c.*246C>T (n.*246C>T) c.1627C>T (p.Pro543Ser) | gnomAD v4 |
| 22 | g.50625162G>C | CA412166667 | ARSA | c.1513C>G (p.Pro505Ala) c.1255C>G (p.Pro419Ala) c.180+201C>G c.*246C>G (n.*246C>G) c.1627C>G (p.Pro543Ala) | |
| 22 | g.50625162G>T | CA412166669 | ARSA | c.1513C>A (p.Pro505Thr) c.1255C>A (p.Pro419Thr) c.180+201C>A c.*246C>A (n.*246C>A) c.1627C>A (p.Pro543Thr) | gnomAD v4 |
| 22 | g.50625163G>A | CA515390781 | ARSA | c.1512C>T (p.Cys504=) c.1254C>T (p.Cys418=) c.180+200C>T c.*245C>T (n.*245C>T) c.1626C>T (p.Cys542=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 22 | g.50625163G>C | CA412166674 | ARSA | c.1512C>G (p.Cys504Trp) c.1254C>G (p.Cys418Trp) c.180+200C>G c.*245C>G (n.*245C>G) c.1626C>G (p.Cys542Trp) | |
| 22 | g.50625163G>T | CA412166677 | ARSA | c.1512C>A (p.Cys504Ter) c.1254C>A (p.Cys418Ter) c.180+200C>A c.*245C>A (n.*245C>A) c.1626C>A (p.Cys542Ter) | gnomAD v4 |
| 22 | g.50625163_50625164delinsGC | CA2410958343 | ARSA | c.1511_1512delinsGC (p.Cys504=) c.1253_1254delinsGC (p.Cys418=) c.180+199_180+200delinsGC c.*244_*245delinsGC (n.*244_*245delinsGC) c.1625_1626delinsGC (p.Cys542=) | |
| 22 | g.50625164del | CA640358552 | ARSA | c.1511del (p.Cys504SerfsTer16) c.1253del (p.Cys418SerfsTer16) c.180+199del c.*244del (n.*244del) c.1625del (p.Cys542SerfsTer16) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625164C>A | CA412166684 | ARSA | c.1511G>T (p.Cys504Phe) c.1253G>T (p.Cys418Phe) c.180+199G>T c.*244G>T (n.*244G>T) c.1625G>T (p.Cys542Phe) | gnomAD v4 |
| 22 | g.50625164C>G | CA412166686 | ARSA | c.1511G>C (p.Cys504Ser) c.1253G>C (p.Cys418Ser) c.180+199G>C c.*244G>C (n.*244G>C) c.1625G>C (p.Cys542Ser) | |
| 22 | g.50625164C>T | CA412166689 | ARSA | c.1511G>A (p.Cys504Tyr) c.1253G>A (p.Cys418Tyr) c.180+199G>A c.*244G>A (n.*244G>A) c.1625G>A (p.Cys542Tyr) | gnomAD v4 |
| 22 | g.50625165A>C | CA412166691 | ARSA | c.1510T>G (p.Cys504Gly) c.1252T>G (p.Cys418Gly) c.180+198T>G c.*243T>G (n.*243T>G) c.1624T>G (p.Cys542Gly) | |
| 22 | g.50625165A>G | CA412166693 | ARSA | c.1510T>C (p.Cys504Arg) c.1252T>C (p.Cys418Arg) c.180+198T>C c.*243T>C (n.*243T>C) c.1624T>C (p.Cys542Arg) | |
| 22 | g.50625165A>T | CA412166697 | ARSA | c.1510T>A (p.Cys504Ser) c.1252T>A (p.Cys418Ser) c.180+198T>A c.*243T>A (n.*243T>A) c.1624T>A (p.Cys542Ser) | |
| 22 | g.50625166A>C | CA412166701 | ARSA | c.1509T>G (p.His503Gln) c.1251T>G (p.His417Gln) c.180+197T>G c.*242T>G (n.*242T>G) c.1623T>G (p.His541Gln) | gnomAD v4 |
| 22 | g.50625166A>G | CA515390788 | ARSA | c.1509T>C (p.His503=) c.1251T>C (p.His417=) c.180+197T>C c.*242T>C (n.*242T>C) c.1623T>C (p.His541=) | |
| 22 | g.50625166A>T | CA412166703 | ARSA | c.1509T>A (p.His503Gln) c.1251T>A (p.His417Gln) c.180+197T>A c.*242T>A (n.*242T>A) c.1623T>A (p.His541Gln) | |
| 22 | g.50625167T>A | CA412166718 | ARSA | c.1508A>T (p.His503Leu) c.1250A>T (p.His417Leu) c.180+196A>T c.*241A>T (n.*241A>T) c.1622A>T (p.His541Leu) | gnomAD v4 |
| 22 | g.50625167T>C | CA412166712 | ARSA | c.1508A>G (p.His503Arg) c.1250A>G (p.His417Arg) c.180+196A>G c.*241A>G (n.*241A>G) c.1622A>G (p.His541Arg) | gnomAD v4 |
| 22 | g.50625167T>G | CA412166711 | ARSA | c.1508A>C (p.His503Pro) c.1250A>C (p.His417Pro) c.180+196A>C c.*241A>C (n.*241A>C) c.1622A>C (p.His541Pro) | |
| 22 | g.50625168G>A | CA10324716 | ARSA | c.1507C>T (p.His503Tyr) c.1249C>T (p.His417Tyr) c.180+195C>T c.*240C>T (n.*240C>T) c.1621C>T (p.His541Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625168G>C | CA412166728 | ARSA | c.1507C>G (p.His503Asp) c.1249C>G (p.His417Asp) c.180+195C>G c.*240C>G (n.*240C>G) c.1621C>G (p.His541Asp) | dbSNP |
| 22 | g.50625168G= | CA2410958344 | ARSA | c.1507C= (p.His503=) c.1249C= (p.His417=) c.180+195C= c.*240C= (n.*240C=) c.1621C= (p.His541=) | |
| 22 | g.50625168G>T | CA412166729 | ARSA | c.1507C>A (p.His503Asn) c.1249C>A (p.His417Asn) c.180+195C>A c.*240C>A (n.*240C>A) c.1621C>A (p.His541Asn) | gnomAD v4 |
| 22 | g.50625169G>A | CA515390793 | ARSA | c.1506C>T (p.Cys502=) c.1248C>T (p.Cys416=) c.180+194C>T c.*239C>T (n.*239C>T) c.1620C>T (p.Cys540=) | gnomAD v4 COSMIC |
| 22 | g.50625169G>C | CA412166730 | ARSA | c.1506C>G (p.Cys502Trp) c.1248C>G (p.Cys416Trp) c.180+194C>G c.*239C>G (n.*239C>G) c.1620C>G (p.Cys540Trp) | gnomAD v4 |
| 22 | g.50625169G>T | CA412166732 | ARSA | c.1506C>A (p.Cys502Ter) c.1248C>A (p.Cys416Ter) c.180+194C>A c.*239C>A (n.*239C>A) c.1620C>A (p.Cys540Ter) | gnomAD v4 |
| 22 | g.50625170C>A | CA412166735 | ARSA | c.1505G>T (p.Cys502Phe) c.1247G>T (p.Cys416Phe) c.180+193G>T c.*238G>T (n.*238G>T) c.1619G>T (p.Cys540Phe) | gnomAD v4 COSMIC |
| 22 | g.50625170C>G | CA412166744 | ARSA | c.1505G>C (p.Cys502Ser) c.1247G>C (p.Cys416Ser) c.180+193G>C c.*238G>C (n.*238G>C) c.1619G>C (p.Cys540Ser) | |
| 22 | g.50625170C>T | CA412166749 | ARSA | c.1505G>A (p.Cys502Tyr) c.1247G>A (p.Cys416Tyr) c.180+193G>A c.*238G>A (n.*238G>A) c.1619G>A (p.Cys540Tyr) | gnomAD v4 |
| 22 | g.50625171A>C | CA412166753 | ARSA | c.1504T>G (p.Cys502Gly) c.1246T>G (p.Cys416Gly) c.180+192T>G c.*237T>G (n.*237T>G) c.1618T>G (p.Cys540Gly) | |
| 22 | g.50625171A>G | CA412166754 | ARSA | c.1504T>C (p.Cys502Arg) c.1246T>C (p.Cys416Arg) c.180+192T>C c.*237T>C (n.*237T>C) c.1618T>C (p.Cys540Arg) | |
| 22 | g.50625171A>T | CA412166755 | ARSA | c.1504T>A (p.Cys502Ser) c.1246T>A (p.Cys416Ser) c.180+192T>A c.*237T>A (n.*237T>A) c.1618T>A (p.Cys540Ser) | gnomAD v4 |
| 22 | g.50625172G>A | CA515390803 | ARSA | c.1503C>T (p.Cys501=) c.1245C>T (p.Cys415=) c.180+191C>T c.*236C>T (n.*236C>T) c.1617C>T (p.Cys539=) | gnomAD v4 |
| 22 | g.50625172G>C | CA412166757 | ARSA | c.1503C>G (p.Cys501Trp) c.1245C>G (p.Cys415Trp) c.180+191C>G c.*236C>G (n.*236C>G) c.1617C>G (p.Cys539Trp) | |
| 22 | g.50625172G>T | CA412166762 | ARSA | c.1503C>A (p.Cys501Ter) c.1245C>A (p.Cys415Ter) c.180+191C>A c.*236C>A (n.*236C>A) c.1617C>A (p.Cys539Ter) | gnomAD v4 |
| 22 | g.50625173C>A | CA412166770 | ARSA | c.1502G>T (p.Cys501Phe) c.1244G>T (p.Cys415Phe) c.180+190G>T c.*235G>T (n.*235G>T) c.1616G>T (p.Cys539Phe) | gnomAD v4 |
| 22 | g.50625173C>G | CA412166774 | ARSA | c.1502G>C (p.Cys501Ser) c.1244G>C (p.Cys415Ser) c.180+190G>C c.*235G>C (n.*235G>C) c.1616G>C (p.Cys539Ser) | |
| 22 | g.50625173C>T | CA412166766 | ARSA | c.1502G>A (p.Cys501Tyr) c.1244G>A (p.Cys415Tyr) c.180+190G>A c.*235G>A (n.*235G>A) c.1616G>A (p.Cys539Tyr) | gnomAD v4 |
| 22 | g.50625174A>C | CA412166778 | ARSA | c.1501T>G (p.Cys501Gly) c.1243T>G (p.Cys415Gly) c.180+189T>G c.*234T>G (n.*234T>G) c.1615T>G (p.Cys539Gly) | |
| 22 | g.50625174A>G | CA412166782 | ARSA | c.1501T>C (p.Cys501Arg) c.1243T>C (p.Cys415Arg) c.180+189T>C c.*234T>C (n.*234T>C) c.1615T>C (p.Cys539Arg) | |
| 22 | g.50625174A>T | CA412166797 | ARSA | c.1501T>A (p.Cys501Ser) c.1243T>A (p.Cys415Ser) c.180+189T>A c.*234T>A (n.*234T>A) c.1615T>A (p.Cys539Ser) | |
| 22 | g.50625175A= | CA2410958345 | ARSA | c.1500T= (p.Ala500=) c.1242T= (p.Ala414=) c.180+188T= c.*233T= (n.*233T=) c.1614T= (p.Ala538=) | |
| 22 | g.50625175A>C | CA515390818 | ARSA | c.1500T>G (p.Ala500=) c.1242T>G (p.Ala414=) c.180+188T>G c.*233T>G (n.*233T>G) c.1614T>G (p.Ala538=) | |
| 22 | g.50625175A>G | CA10324717 | ARSA | c.1500T>C (p.Ala500=) c.1242T>C (p.Ala414=) c.180+188T>C c.*233T>C (n.*233T>C) c.1614T>C (p.Ala538=) | ClinVar dbSNP ExAC gnomAD v4 |
| 22 | g.50625175A>T | CA515390819 | ARSA | c.1500T>A (p.Ala500=) c.1242T>A (p.Ala414=) c.180+188T>A c.*233T>A (n.*233T>A) c.1614T>A (p.Ala538=) | |
| 22 | g.50625176G>A | CA412166812 | ARSA | c.1499C>T (p.Ala500Val) c.1241C>T (p.Ala414Val) c.180+187C>T c.*232C>T (n.*232C>T) c.1613C>T (p.Ala538Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625176G>C | CA412166822 | ARSA | c.1499C>G (p.Ala500Gly) c.1241C>G (p.Ala414Gly) c.180+187C>G c.*232C>G (n.*232C>G) c.1613C>G (p.Ala538Gly) | |
| 22 | g.50625176G= | CA2410958346 | ARSA | c.1499C= (p.Ala500=) c.1241C= (p.Ala414=) c.180+187C= c.*232C= (n.*232C=) c.1613C= (p.Ala538=) | |
| 22 | g.50625176G>T | CA412166826 | ARSA | c.1499C>A (p.Ala500Asp) c.1241C>A (p.Ala414Asp) c.180+187C>A c.*232C>A (n.*232C>A) c.1613C>A (p.Ala538Asp) | gnomAD v4 |
| 22 | g.50625177C>A | CA412166831 | ARSA | c.1498G>T (p.Ala500Ser) c.1240G>T (p.Ala414Ser) c.180+186G>T c.*231G>T (n.*231G>T) c.1612G>T (p.Ala538Ser) | gnomAD v4 |
| 22 | g.50625177C>G | CA412166835 | ARSA | c.1498G>C (p.Ala500Pro) c.1240G>C (p.Ala414Pro) c.180+186G>C c.*231G>C (n.*231G>C) c.1612G>C (p.Ala538Pro) | |
| 22 | g.50625177C>T | CA412166839 | ARSA | c.1498G>A (p.Ala500Thr) c.1240G>A (p.Ala414Thr) c.180+186G>A c.*231G>A (n.*231G>A) c.1612G>A (p.Ala538Thr) | gnomAD v4 |
| 22 | g.50625178T>A | CA515390825 | ARSA | c.1497A>T (p.Pro499=) c.1239A>T (p.Pro413=) c.180+185A>T c.*230A>T (n.*230A>T) c.1611A>T (p.Pro537=) | |
| 22 | g.50625178T>C | CA515390826 | ARSA | c.1497A>G (p.Pro499=) c.1239A>G (p.Pro413=) c.180+185A>G c.*230A>G (n.*230A>G) c.1611A>G (p.Pro537=) | |
| 22 | g.50625178T>G | CA515390827 | ARSA | c.1497A>C (p.Pro499=) c.1239A>C (p.Pro413=) c.180+185A>C c.*230A>C (n.*230A>C) c.1611A>C (p.Pro537=) | |
| 22 | g.50625179G>A | CA412166843 | ARSA | c.1496C>T (p.Pro499Leu) c.1238C>T (p.Pro413Leu) c.180+184C>T c.*229C>T (n.*229C>T) c.1610C>T (p.Pro537Leu) | |
| 22 | g.50625179G>C | CA412166844 | ARSA | c.1496C>G (p.Pro499Arg) c.1238C>G (p.Pro413Arg) c.180+184C>G c.*229C>G (n.*229C>G) c.1610C>G (p.Pro537Arg) | |
| 22 | g.50625179G>T | CA412166845 | ARSA | c.1496C>A (p.Pro499Gln) c.1238C>A (p.Pro413Gln) c.180+184C>A c.*229C>A (n.*229C>A) c.1610C>A (p.Pro537Gln) | |
| 22 | g.50625182_50625185del | CA913088699 | ARSA | c.1493_1496del (p.Arg498GlnfsTer21) c.1235_1238del (p.Arg412GlnfsTer21) c.180+181_180+184del c.*226_*229del (n.*226_*229del) c.1607_1610del (p.Arg536GlnfsTer21) | |
| 22 | g.50625180G>A | CA412166849 | ARSA | c.1495C>T (p.Pro499Ser) c.1237C>T (p.Pro413Ser) c.180+183C>T c.*228C>T (n.*228C>T) c.1609C>T (p.Pro537Ser) | dbSNP gnomAD v4 |
| 22 | g.50625180G>C | CA412166855 | ARSA | c.1495C>G (p.Pro499Ala) c.1237C>G (p.Pro413Ala) c.180+183C>G c.*228C>G (n.*228C>G) c.1609C>G (p.Pro537Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625180G= | CA2410958347 | ARSA | c.1495C= (p.Pro499=) c.1237C= (p.Pro413=) c.180+183C= c.*228C= (n.*228C=) c.1609C= (p.Pro537=) | |
| 22 | g.50625180G>T | CA412166854 | ARSA | c.1495C>A (p.Pro499Thr) c.1237C>A (p.Pro413Thr) c.180+183C>A c.*228C>A (n.*228C>A) c.1609C>A (p.Pro537Thr) | gnomAD v4 |
| 22 | g.50625181G>A | CA515390832 | ARSA | c.1494C>T (p.Arg498=) c.1236C>T (p.Arg412=) c.180+182C>T c.*227C>T (n.*227C>T) c.1608C>T (p.Arg536=) | gnomAD v4 |
| 22 | g.50625181G>C | CA515390833 | ARSA | c.1494C>G (p.Arg498=) c.1236C>G (p.Arg412=) c.180+182C>G c.*227C>G (n.*227C>G) c.1608C>G (p.Arg536=) | |
| 22 | g.50625181G>T | CA515390835 | ARSA | c.1494C>A (p.Arg498=) c.1236C>A (p.Arg412=) c.180+182C>A c.*227C>A (n.*227C>A) c.1608C>A (p.Arg536=) | gnomAD v4 |
| 22 | g.50625182del | CA2657590636 | ARSA | c.1493del (p.Arg498ProfsTer22) c.1235del (p.Arg412ProfsTer22) c.180+181del c.*226del (n.*226del) c.1607del (p.Arg536ProfsTer22) | gnomAD v4 |
| 22 | g.50625182C>A | CA10324719 | ARSA | c.1493G>T (p.Arg498Leu) c.1235G>T (p.Arg412Leu) c.180+181G>T c.*226G>T (n.*226G>T) c.1607G>T (p.Arg536Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625182C= | CA2410958348 | ARSA | c.1493G= (p.Arg498=) c.1235G= (p.Arg412=) c.180+181G= c.*226G= (n.*226G=) c.1607G= (p.Arg536=) | |
| 22 | g.50625182C>G | CA412166858 | ARSA | c.1493G>C (p.Arg498Pro) c.1235G>C (p.Arg412Pro) c.180+181G>C c.*226G>C (n.*226G>C) c.1607G>C (p.Arg536Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625182C>T | CA146671 | ARSA | c.1493G>A (p.Arg498His) c.1235G>A (p.Arg412His) c.180+181G>A c.*226G>A (n.*226G>A) c.1607G>A (p.Arg536His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625182_50625185delinsCGGG | CA2410958349 | ARSA | c.1490_1493delinsCCCG (p.Pro497=) c.1232_1235delinsCCCG (p.Pro411=) c.180+178_180+181delinsCCCG c.*223_*226delinsCCCG (n.*223_*226delinsCCCG) c.1604_1607delinsCCCG (p.Pro535=) | |
| 22 | g.50625183G>A | CA325531157 | ARSA | c.1492C>T (p.Arg498Cys) c.1234C>T (p.Arg412Cys) c.180+180C>T c.*225C>T (n.*225C>T) c.1606C>T (p.Arg536Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625183G>C | CA412166873 | ARSA | c.1492C>G (p.Arg498Gly) c.1234C>G (p.Arg412Gly) c.180+180C>G c.*225C>G (n.*225C>G) c.1606C>G (p.Arg536Gly) | |
| 22 | g.50625183G= | CA2410958350 | ARSA | c.1492C= (p.Arg498=) c.1234C= (p.Arg412=) c.180+180C= c.*225C= (n.*225C=) c.1606C= (p.Arg536=) | |
| 22 | g.50625183G>T | CA412166875 | ARSA | c.1492C>A (p.Arg498Ser) c.1234C>A (p.Arg412Ser) c.180+180C>A c.*225C>A (n.*225C>A) c.1606C>A (p.Arg536Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625188dup | CA10324718 | ARSA | c.1492dup (p.Arg498ProfsTer?) c.1234dup (p.Arg412ProfsTer?) c.180+180dup c.*225dup (n.*225dup) c.1606dup (p.Arg536ProfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625185_50625188dup | CA278472 | ARSA | c.1489_1492dup (p.Arg498ProfsTer?) c.1231_1234dup (p.Arg412ProfsTer?) c.180+177_180+180dup c.*222_*225dup (n.*222_*225dup) c.1603_1606dup (p.Arg536ProfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625183_50625188dup | CA2695231019 | ARSA | c.1487_1492dup (p.Pro497_Arg498insProPro) c.1229_1234dup (p.Pro411_Arg412insProPro) c.180+175_180+180dup c.*220_*225dup (n.*220_*225dup) c.1601_1606dup (p.Pro535_Arg536insProPro) | |
| 22 | g.50625188del | CA412166882 | ARSA | c.1492del (p.Arg498AlafsTer22) c.1234del (p.Arg412AlafsTer22) c.180+180del c.*225del (n.*225del) c.1606del (p.Arg536AlafsTer22) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625186_50625188del | CA658824681 | ARSA | c.1490_1492del (p.Pro497del) c.1232_1234del (p.Pro411del) c.180+178_180+180del c.*223_*225del (n.*223_*225del) c.1604_1606del (p.Pro535del) | ClinVar dbSNP |
| 22 | g.50625183_50625190del | CA2657590647 | ARSA | c.1485_1492del (p.Cys495TrpfsTer?) c.1227_1234del (p.Cys409TrpfsTer?) c.180+173_180+180del c.*218_*225del (n.*218_*225del) c.1599_1606del (p.Cys533TrpfsTer?) | gnomAD v4 |
| 22 | g.50625184G>A | CA515390849 | ARSA | c.1491C>T (p.Pro497=) c.1233C>T (p.Pro411=) c.180+179C>T c.*224C>T (n.*224C>T) c.1605C>T (p.Pro535=) | |
| 22 | g.50625184G>C | CA515390851 | ARSA | c.1491C>G (p.Pro497=) c.1233C>G (p.Pro411=) c.180+179C>G c.*224C>G (n.*224C>G) c.1605C>G (p.Pro535=) | |
| 22 | g.50625184G>T | CA515390854 | ARSA | c.1491C>A (p.Pro497=) c.1233C>A (p.Pro411=) c.180+179C>A c.*224C>A (n.*224C>A) c.1605C>A (p.Pro535=) | gnomAD v4 |
| 22 | g.50625185G>A | CA412166891 | ARSA | c.1490C>T (p.Pro497Leu) c.1232C>T (p.Pro411Leu) c.180+178C>T c.*223C>T (n.*223C>T) c.1604C>T (p.Pro535Leu) | gnomAD v4 |
| 22 | g.50625185G>C | CA412166890 | ARSA | c.1490C>G (p.Pro497Arg) c.1232C>G (p.Pro411Arg) c.180+178C>G c.*223C>G (n.*223C>G) c.1604C>G (p.Pro535Arg) | |
| 22 | g.50625185G>T | CA412166886 | ARSA | c.1490C>A (p.Pro497His) c.1232C>A (p.Pro411His) c.180+178C>A c.*223C>A (n.*223C>A) c.1604C>A (p.Pro535His) | gnomAD v4 |
| 22 | g.50625186G>A | CA412166894 | ARSA | c.1489C>T (p.Pro497Ser) c.1231C>T (p.Pro411Ser) c.180+177C>T c.*222C>T (n.*222C>T) c.1603C>T (p.Pro535Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625186G>C | CA412166904 | ARSA | c.1489C>G (p.Pro497Ala) c.1231C>G (p.Pro411Ala) c.180+177C>G c.*222C>G (n.*222C>G) c.1603C>G (p.Pro535Ala) | |
| 22 | g.50625186G= | CA2410958351 | ARSA | c.1489C= (p.Pro497=) c.1231C= (p.Pro411=) c.180+177C= c.*222C= (n.*222C=) c.1603C= (p.Pro535=) | |
| 22 | g.50625186G>T | CA412166896 | ARSA | c.1489C>A (p.Pro497Thr) c.1231C>A (p.Pro411Thr) c.180+177C>A c.*222C>A (n.*222C>A) c.1603C>A (p.Pro535Thr) | |
| 22 | g.50625187G>A | CA515390859 | ARSA | c.1488C>T (p.Thr496=) c.1230C>T (p.Thr410=) c.180+176C>T c.*221C>T (n.*221C>T) c.1602C>T (p.Thr534=) | gnomAD v4 |
| 22 | g.50625187G>C | CA515390860 | ARSA | c.1488C>G (p.Thr496=) c.1230C>G (p.Thr410=) c.180+176C>G c.*221C>G (n.*221C>G) c.1602C>G (p.Thr534=) | ClinVar |
| 22 | g.50625187G>T | CA515390862 | ARSA | c.1488C>A (p.Thr496=) c.1230C>A (p.Thr410=) c.180+176C>A c.*221C>A (n.*221C>A) c.1602C>A (p.Thr534=) | gnomAD v4 |
| 22 | g.50625188G>A | CA10324720 | ARSA | c.1487C>T (p.Thr496Ile) c.1229C>T (p.Thr410Ile) c.180+175C>T c.*220C>T (n.*220C>T) c.1601C>T (p.Thr534Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625188G>C | CA412166911 | ARSA | c.1487C>G (p.Thr496Ser) c.1229C>G (p.Thr410Ser) c.180+175C>G c.*220C>G (n.*220C>G) c.1601C>G (p.Thr534Ser) | |
| 22 | g.50625188G= | CA2410958352 | ARSA | c.1487C= (p.Thr496=) c.1229C= (p.Thr410=) c.180+175C= c.*220C= (n.*220C=) c.1601C= (p.Thr534=) | |
| 22 | g.50625188G>T | CA412166917 | ARSA | c.1487C>A (p.Thr496Asn) c.1229C>A (p.Thr410Asn) c.180+175C>A c.*220C>A (n.*220C>A) c.1601C>A (p.Thr534Asn) | gnomAD v4 |
| 22 | g.50625189T>A | CA412166920 | ARSA | c.1486A>T (p.Thr496Ser) c.1228A>T (p.Thr410Ser) c.180+174A>T c.*219A>T (n.*219A>T) c.1600A>T (p.Thr534Ser) | gnomAD v4 |
| 22 | g.50625189T>C | CA412166925 | ARSA | c.1486A>G (p.Thr496Ala) c.1228A>G (p.Thr410Ala) c.180+174A>G c.*219A>G (n.*219A>G) c.1600A>G (p.Thr534Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625189T>G | CA412166929 | ARSA | c.1486A>C (p.Thr496Pro) c.1228A>C (p.Thr410Pro) c.180+174A>C c.*219A>C (n.*219A>C) c.1600A>C (p.Thr534Pro) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625189T= | CA2410958353 | ARSA | c.1486A= (p.Thr496=) c.1228A= (p.Thr410=) c.180+174A= c.*219A= (n.*219A=) c.1600A= (p.Thr534=) | |
| 22 | g.50625190G>A | CA515390875 | ARSA | c.1485C>T (p.Cys495=) c.1227C>T (p.Cys409=) c.180+173C>T c.*218C>T (n.*218C>T) c.1599C>T (p.Cys533=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625190G>C | CA412166936 | ARSA | c.1485C>G (p.Cys495Trp) c.1227C>G (p.Cys409Trp) c.180+173C>G c.*218C>G (n.*218C>G) c.1599C>G (p.Cys533Trp) | |
| 22 | g.50625190G= | CA2410958354 | ARSA | c.1485C= (p.Cys495=) c.1227C= (p.Cys409=) c.180+173C= c.*218C= (n.*218C=) c.1599C= (p.Cys533=) | |
| 22 | g.50625190G>T | CA412166941 | ARSA | c.1485C>A (p.Cys495Ter) c.1227C>A (p.Cys409Ter) c.180+173C>A c.*218C>A (n.*218C>A) c.1599C>A (p.Cys533Ter) | gnomAD v4 |
| 22 | g.50625191C>A | CA412166946 | ARSA | c.1484G>T (p.Cys495Phe) c.1226G>T (p.Cys409Phe) c.180+172G>T c.*217G>T (n.*217G>T) c.1598G>T (p.Cys533Phe) | gnomAD v4 |
| 22 | g.50625191C>G | CA412166952 | ARSA | c.1484G>C (p.Cys495Ser) c.1226G>C (p.Cys409Ser) c.180+172G>C c.*217G>C (n.*217G>C) c.1598G>C (p.Cys533Ser) | |
| 22 | g.50625191C>T | CA412166956 | ARSA | c.1484G>A (p.Cys495Tyr) c.1226G>A (p.Cys409Tyr) c.180+172G>A c.*217G>A (n.*217G>A) c.1598G>A (p.Cys533Tyr) | gnomAD v4 |
| 22 | g.50625192A= | CA2410958355 | ARSA | c.1483T= (p.Cys495=) c.1225T= (p.Cys409=) c.180+171T= c.*216T= (n.*216T=) c.1597T= (p.Cys533=) | |
| 22 | g.50625192A>C | CA412166975 | ARSA | c.1483T>G (p.Cys495Gly) c.1225T>G (p.Cys409Gly) c.180+171T>G c.*216T>G (n.*216T>G) c.1597T>G (p.Cys533Gly) | ClinVar |
| 22 | g.50625192A>G | CA412166968 | ARSA | c.1483T>C (p.Cys495Arg) c.1225T>C (p.Cys409Arg) c.180+171T>C c.*216T>C (n.*216T>C) c.1597T>C (p.Cys533Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625192A>T | CA412166964 | ARSA | c.1483T>A (p.Cys495Ser) c.1225T>A (p.Cys409Ser) c.180+171T>A c.*216T>A (n.*216T>A) c.1597T>A (p.Cys533Ser) | |
| 22 | g.50625193G>A | CA515390885 | ARSA | c.1482C>T (p.Gly494=) c.1224C>T (p.Gly408=) c.180+170C>T c.*215C>T (n.*215C>T) c.1596C>T (p.Gly532=) | gnomAD v4 |
| 22 | g.50625193G>C | CA515390887 | ARSA | c.1482C>G (p.Gly494=) c.1224C>G (p.Gly408=) c.180+170C>G c.*215C>G (n.*215C>G) c.1596C>G (p.Gly532=) | |
| 22 | g.50625193G>T | CA515390888 | ARSA | c.1482C>A (p.Gly494=) c.1224C>A (p.Gly408=) c.180+170C>A c.*215C>A (n.*215C>A) c.1596C>A (p.Gly532=) | gnomAD v4 |
| 22 | g.50625194C>A | CA412166980 | ARSA | c.1481G>T (p.Gly494Val) c.1223G>T (p.Gly408Val) c.180+169G>T c.*214G>T (n.*214G>T) c.1595G>T (p.Gly532Val) | gnomAD v4 |
| 22 | g.50625194C>G | CA412166982 | ARSA | c.1481G>C (p.Gly494Ala) c.1223G>C (p.Gly408Ala) c.180+169G>C c.*214G>C (n.*214G>C) c.1595G>C (p.Gly532Ala) | |
| 22 | g.50625194C>T | CA412166997 | ARSA | c.1481G>A (p.Gly494Asp) c.1223G>A (p.Gly408Asp) c.180+169G>A c.*214G>A (n.*214G>A) c.1595G>A (p.Gly532Asp) | |
| 22 | g.50625195C>A | CA412167002 | ARSA | c.1480G>T (p.Gly494Cys) c.1222G>T (p.Gly408Cys) c.180+168G>T c.*213G>T (n.*213G>T) c.1594G>T (p.Gly532Cys) | gnomAD v4 |
| 22 | g.50625195C= | CA2410958356 | ARSA | c.1480G= (p.Gly494=) c.1222G= (p.Gly408=) c.180+168G= c.*213G= (n.*213G=) c.1594G= (p.Gly532=) | |
| 22 | g.50625195C>G | CA412167005 | ARSA | c.1480G>C (p.Gly494Arg) c.1222G>C (p.Gly408Arg) c.180+168G>C c.*213G>C (n.*213G>C) c.1594G>C (p.Gly532Arg) | |
| 22 | g.50625195C>T | CA325531161 | ARSA | c.1480G>A (p.Gly494Ser) c.1222G>A (p.Gly408Ser) c.180+168G>A c.*213G>A (n.*213G>A) c.1594G>A (p.Gly532Ser) | ClinVar dbSNP |
| 22 | g.50625196A>C | CA515390892 | ARSA | c.1479T>G (p.Pro493=) c.1221T>G (p.Pro407=) c.180+167T>G c.*212T>G (n.*212T>G) c.1593T>G (p.Pro531=) | |
| 22 | g.50625196A>G | CA515390893 | ARSA | c.1479T>C (p.Pro493=) c.1221T>C (p.Pro407=) c.180+167T>C c.*212T>C (n.*212T>C) c.1593T>C (p.Pro531=) | gnomAD v4 |
| 22 | g.50625196A>T | CA515390895 | ARSA | c.1479T>A (p.Pro493=) c.1221T>A (p.Pro407=) c.180+167T>A c.*212T>A (n.*212T>A) c.1593T>A (p.Pro531=) | |
| 22 | g.50625197G>A | CA412167013 | ARSA | c.1478C>T (p.Pro493Leu) c.1220C>T (p.Pro407Leu) c.180+166C>T c.*211C>T (n.*211C>T) c.1592C>T (p.Pro531Leu) | gnomAD v4 |
| 22 | g.50625197G>C | CA412167018 | ARSA | c.1478C>G (p.Pro493Arg) c.1220C>G (p.Pro407Arg) c.180+166C>G c.*211C>G (n.*211C>G) c.1592C>G (p.Pro531Arg) | gnomAD v4 |
| 22 | g.50625197G>T | CA412167024 | ARSA | c.1478C>A (p.Pro493His) c.1220C>A (p.Pro407His) c.180+166C>A c.*211C>A (n.*211C>A) c.1592C>A (p.Pro531His) | gnomAD v4 |
| 22 | g.50625198G>A | CA412167031 | ARSA | c.1477C>T (p.Pro493Ser) c.1219C>T (p.Pro407Ser) c.180+165C>T c.*210C>T (n.*210C>T) c.1591C>T (p.Pro531Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625198G>C | CA412167034 | ARSA | c.1477C>G (p.Pro493Ala) c.1219C>G (p.Pro407Ala) c.180+165C>G c.*210C>G (n.*210C>G) c.1591C>G (p.Pro531Ala) | |
| 22 | g.50625198G= | CA2410958357 | ARSA | c.1477C= (p.Pro493=) c.1219C= (p.Pro407=) c.180+165C= c.*210C= (n.*210C=) c.1591C= (p.Pro531=) | |
| 22 | g.50625198G>T | CA412167036 | ARSA | c.1477C>A (p.Pro493Thr) c.1219C>A (p.Pro407Thr) c.180+165C>A c.*210C>A (n.*210C>A) c.1591C>A (p.Pro531Thr) | |
| 22 | g.50625199A>C | CA412167041 | ARSA | c.1476T>G (p.His492Gln) c.1218T>G (p.His406Gln) c.180+164T>G c.*209T>G (n.*209T>G) c.1590T>G (p.His530Gln) | |
| 22 | g.50625199A>G | CA515390900 | ARSA | c.1476T>C (p.His492=) c.1218T>C (p.His406=) c.180+164T>C c.*209T>C (n.*209T>C) c.1590T>C (p.His530=) | |
| 22 | g.50625199A>T | CA412167040 | ARSA | c.1476T>A (p.His492Gln) c.1218T>A (p.His406Gln) c.180+164T>A c.*209T>A (n.*209T>A) c.1590T>A (p.His530Gln) | |
| 22 | g.50625200T>A | CA412167045 | ARSA | c.1475A>T (p.His492Leu) c.1217A>T (p.His406Leu) c.180+163A>T c.*208A>T (n.*208A>T) c.1589A>T (p.His530Leu) | gnomAD v4 |
| 22 | g.50625200T>C | CA412167064 | ARSA | c.1475A>G (p.His492Arg) c.1217A>G (p.His406Arg) c.180+163A>G c.*208A>G (n.*208A>G) c.1589A>G (p.His530Arg) | |
| 22 | g.50625200T>G | CA412167067 | ARSA | c.1475A>C (p.His492Pro) c.1217A>C (p.His406Pro) c.180+163A>C c.*208A>C (n.*208A>C) c.1589A>C (p.His530Pro) | |
| 22 | g.50625201G>A | CA412167072 | ARSA | c.1474C>T (p.His492Tyr) c.1216C>T (p.His406Tyr) c.180+162C>T c.*207C>T (n.*207C>T) c.1588C>T (p.His530Tyr) | |
| 22 | g.50625201G>C | CA412167076 | ARSA | c.1474C>G (p.His492Asp) c.1216C>G (p.His406Asp) c.180+162C>G c.*207C>G (n.*207C>G) c.1588C>G (p.His530Asp) | |
| 22 | g.50625201G>T | CA412167080 | ARSA | c.1474C>A (p.His492Asn) c.1216C>A (p.His406Asn) c.180+162C>A c.*207C>A (n.*207C>A) c.1588C>A (p.His530Asn) | |
| 22 | g.50625202A= | CA2410958358 | ARSA | c.1473T= (p.Cys491=) c.1215T= (p.Cys405=) c.180+161T= c.*206T= (n.*206T=) c.1587T= (p.Cys529=) | |
| 22 | g.50625202A>C | CA412167088 | ARSA | c.1473T>G (p.Cys491Trp) c.1215T>G (p.Cys405Trp) c.180+161T>G c.*206T>G (n.*206T>G) c.1587T>G (p.Cys529Trp) | |
| 22 | g.50625202A>G | CA10324721 | ARSA | c.1473T>C (p.Cys491=) c.1215T>C (p.Cys405=) c.180+161T>C c.*206T>C (n.*206T>C) c.1587T>C (p.Cys529=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625202A>T | CA412167094 | ARSA | c.1473T>A (p.Cys491Ter) c.1215T>A (p.Cys405Ter) c.180+161T>A c.*206T>A (n.*206T>A) c.1587T>A (p.Cys529Ter) | |
| 22 | g.50625203C>A | CA412167104 | ARSA | c.1472G>T (p.Cys491Phe) c.1214G>T (p.Cys405Phe) c.180+160G>T c.*205G>T (n.*205G>T) c.1586G>T (p.Cys529Phe) | gnomAD v4 |
| 22 | g.50625203C= | CA2410958359 | ARSA | c.1472G= (p.Cys491=) c.1214G= (p.Cys405=) c.180+160G= c.*205G= (n.*205G=) c.1586G= (p.Cys529=) | |
| 22 | g.50625203C>G | CA412167109 | ARSA | c.1472G>C (p.Cys491Ser) c.1214G>C (p.Cys405Ser) c.180+160G>C c.*205G>C (n.*205G>C) c.1586G>C (p.Cys529Ser) | |
| 22 | g.50625203C>T | CA16616942 | ARSA | c.1472G>A (p.Cys491Tyr) c.1214G>A (p.Cys405Tyr) c.180+160G>A c.*205G>A (n.*205G>A) c.1586G>A (p.Cys529Tyr) | ClinVar dbSNP |
| 22 | g.50625204A= | CA2410958360 | ARSA | c.1471T= (p.Cys491=) c.1213T= (p.Cys405=) c.180+159T= c.*204T= (n.*204T=) c.1585T= (p.Cys529=) | |
| 22 | g.50625204A>C | CA219000 | ARSA | c.1471T>G (p.Cys491Gly) c.1213T>G (p.Cys405Gly) c.180+159T>G c.*204T>G (n.*204T>G) c.1585T>G (p.Cys529Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625204A>G | CA233473 | ARSA | c.1471T>C (p.Cys491Arg) c.1213T>C (p.Cys405Arg) c.180+159T>C c.*204T>C (n.*204T>C) c.1585T>C (p.Cys529Arg) | ClinVar dbSNP |
| 22 | g.50625204A>T | CA412167118 | ARSA | c.1471T>A (p.Cys491Ser) c.1213T>A (p.Cys405Ser) c.180+159T>A c.*204T>A (n.*204T>A) c.1585T>A (p.Cys529Ser) | |
| 22 | g.50625205G>A | CA325531168 | ARSA | c.1470C>T (p.Cys490=) c.1212C>T (p.Cys404=) c.180+158C>T c.*203C>T (n.*203C>T) c.1584C>T (p.Cys528=) | dbSNP gnomAD v4 |
| 22 | g.50625205G>C | CA412167132 | ARSA | c.1470C>G (p.Cys490Trp) c.1212C>G (p.Cys404Trp) c.180+158C>G c.*203C>G (n.*203C>G) c.1584C>G (p.Cys528Trp) | |
| 22 | g.50625205G= | CA2410958361 | ARSA | c.1470C= (p.Cys490=) c.1212C= (p.Cys404=) c.180+158C= c.*203C= (n.*203C=) c.1584C= (p.Cys528=) | |
| 22 | g.50625205G>T | CA412167135 | ARSA | c.1470C>A (p.Cys490Ter) c.1212C>A (p.Cys404Ter) c.180+158C>A c.*203C>A (n.*203C>A) c.1584C>A (p.Cys528Ter) | |
| 22 | g.50625206C>A | CA412167140 | ARSA | c.1469G>T (p.Cys490Phe) c.1211G>T (p.Cys404Phe) c.180+157G>T c.*202G>T (n.*202G>T) c.1583G>T (p.Cys528Phe) | |
| 22 | g.50625206C>G | CA412167143 | ARSA | c.1469G>C (p.Cys490Ser) c.1211G>C (p.Cys404Ser) c.180+157G>C c.*202G>C (n.*202G>C) c.1583G>C (p.Cys528Ser) | |
| 22 | g.50625206C>T | CA412167145 | ARSA | c.1469G>A (p.Cys490Tyr) c.1211G>A (p.Cys404Tyr) c.180+157G>A c.*202G>A (n.*202G>A) c.1583G>A (p.Cys528Tyr) | gnomAD v4 |
| 22 | g.50625207A= | CA2410958362 | ARSA | c.1468T= (p.Cys490=) c.1210T= (p.Cys404=) c.180+156T= c.*201T= (n.*201T=) c.1582T= (p.Cys528=) | |
| 22 | g.50625207A>C | CA412167150 | ARSA | c.1468T>G (p.Cys490Gly) c.1210T>G (p.Cys404Gly) c.180+156T>G c.*201T>G (n.*201T>G) c.1582T>G (p.Cys528Gly) | |
| 22 | g.50625207A>G | CA10324722 | ARSA | c.1468T>C (p.Cys490Arg) c.1210T>C (p.Cys404Arg) c.180+156T>C c.*201T>C (n.*201T>C) c.1582T>C (p.Cys528Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625207A>T | CA412167153 | ARSA | c.1468T>A (p.Cys490Ser) c.1210T>A (p.Cys404Ser) c.180+156T>A c.*201T>A (n.*201T>A) c.1582T>A (p.Cys528Ser) | |
| 22 | g.50625208G>A | CA515390926 | ARSA | c.1467C>T (p.Ile489=) c.1209C>T (p.Ile403=) c.180+155C>T c.*200C>T (n.*200C>T) c.1581C>T (p.Ile527=) | gnomAD v4 |
| 22 | g.50625208G>C | CA412167176 | ARSA | c.1467C>G (p.Ile489Met) c.1209C>G (p.Ile403Met) c.180+155C>G c.*200C>G (n.*200C>G) c.1581C>G (p.Ile527Met) | |
| 22 | g.50625208G>T | CA515390927 | ARSA | c.1467C>A (p.Ile489=) c.1209C>A (p.Ile403=) c.180+155C>A c.*200C>A (n.*200C>A) c.1581C>A (p.Ile527=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625209A>C | CA412167198 | ARSA | c.1466T>G (p.Ile489Ser) c.1208T>G (p.Ile403Ser) c.180+154T>G c.*199T>G (n.*199T>G) c.1580T>G (p.Ile527Ser) | |
| 22 | g.50625209A>G | CA412167203 | ARSA | c.1466T>C (p.Ile489Thr) c.1208T>C (p.Ile403Thr) c.180+154T>C c.*199T>C (n.*199T>C) c.1580T>C (p.Ile527Thr) | |
| 22 | g.50625209A>T | CA412167218 | ARSA | c.1466T>A (p.Ile489Asn) c.1208T>A (p.Ile403Asn) c.180+154T>A c.*199T>A (n.*199T>A) c.1580T>A (p.Ile527Asn) | |
| 22 | g.50625210T>A | CA412167224 | ARSA | c.1465A>T (p.Ile489Phe) c.1207A>T (p.Ile403Phe) c.180+153A>T c.*198A>T (n.*198A>T) c.1579A>T (p.Ile527Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625210T>C | CA412167244 | ARSA | c.1465A>G (p.Ile489Val) c.1207A>G (p.Ile403Val) c.180+153A>G c.*198A>G (n.*198A>G) c.1579A>G (p.Ile527Val) | |
| 22 | g.50625210T>G | CA412167229 | ARSA | c.1465A>C (p.Ile489Leu) c.1207A>C (p.Ile403Leu) c.180+153A>C c.*198A>C (n.*198A>C) c.1579A>C (p.Ile527Leu) | |
| 22 | g.50625210T= | CA2410958363 | ARSA | c.1465A= (p.Ile489=) c.1207A= (p.Ile403=) c.180+153A= c.*198A= (n.*198A=) c.1579A= (p.Ile527=) | |
| 22 | g.50625211C>A | CA412167249 | ARSA | c.1464G>T (p.Gln488His) c.1206G>T (p.Gln402His) c.180+152G>T c.*197G>T (n.*197G>T) c.1578G>T (p.Gln526His) | |
| 22 | g.50625211C>G | CA412167253 | ARSA | c.1464G>C (p.Gln488His) c.1206G>C (p.Gln402His) c.180+152G>C c.*197G>C (n.*197G>C) c.1578G>C (p.Gln526His) | |
| 22 | g.50625211C>T | CA515390934 | ARSA | c.1464G>A (p.Gln488=) c.1206G>A (p.Gln402=) c.180+152G>A c.*197G>A (n.*197G>A) c.1578G>A (p.Gln526=) | ClinVar |
| 22 | g.50625212T>A | CA412167266 | ARSA | c.1463A>T (p.Gln488Leu) c.1205A>T (p.Gln402Leu) c.180+151A>T c.*196A>T (n.*196A>T) c.1577A>T (p.Gln526Leu) | |
| 22 | g.50625212T>C | CA412167280 | ARSA | c.1463A>G (p.Gln488Arg) c.1205A>G (p.Gln402Arg) c.180+151A>G c.*196A>G (n.*196A>G) c.1577A>G (p.Gln526Arg) | ClinVar dbSNP |
| 22 | g.50625212T>G | CA412167276 | ARSA | c.1463A>C (p.Gln488Pro) c.1205A>C (p.Gln402Pro) c.180+151A>C c.*196A>C (n.*196A>C) c.1577A>C (p.Gln526Pro) | gnomAD v4 |
| 22 | g.50625213G>A | CA116001 | ARSA | c.1462C>T (p.Gln488Ter) c.1204C>T (p.Gln402Ter) c.180+150C>T c.*195C>T (n.*195C>T) c.1576C>T (p.Gln526Ter) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625213G>C | CA412167305 | ARSA | c.1462C>G (p.Gln488Glu) c.1204C>G (p.Gln402Glu) c.180+150C>G c.*195C>G (n.*195C>G) c.1576C>G (p.Gln526Glu) | |
| 22 | g.50625213G= | CA2410958364 | ARSA | c.1462C= (p.Gln488=) c.1204C= (p.Gln402=) c.180+150C= c.*195C= (n.*195C=) c.1576C= (p.Gln526=) | |
| 22 | g.50625213G>T | CA412167287 | ARSA | c.1462C>A (p.Gln488Lys) c.1204C>A (p.Gln402Lys) c.180+150C>A c.*195C>A (n.*195C>A) c.1576C>A (p.Gln526Lys) | gnomAD v4 |
| 22 | g.50625214C>A | CA515390938 | ARSA | c.1461G>T (p.Leu487=) c.1203G>T (p.Leu401=) c.180+149G>T c.*194G>T (n.*194G>T) c.1575G>T (p.Leu525=) | gnomAD v4 |
| 22 | g.50625214C= | CA2410958365 | ARSA | c.1461G= (p.Leu487=) c.1203G= (p.Leu401=) c.180+149G= c.*194G= (n.*194G=) c.1575G= (p.Leu525=) | |
| 22 | g.50625214C>G | CA515390939 | ARSA | c.1461G>C (p.Leu487=) c.1203G>C (p.Leu401=) c.180+149G>C c.*194G>C (n.*194G>C) c.1575G>C (p.Leu525=) | |
| 22 | g.50625214C>T | CA515390941 | ARSA | c.1461G>A (p.Leu487=) c.1203G>A (p.Leu401=) c.180+149G>A c.*194G>A (n.*194G>A) c.1575G>A (p.Leu525=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625215A>C | CA412167310 | ARSA | c.1460T>G (p.Leu487Arg) c.1202T>G (p.Leu401Arg) c.180+148T>G c.*193T>G (n.*193T>G) c.1574T>G (p.Leu525Arg) | |
| 22 | g.50625215A>G | CA412167316 | ARSA | c.1460T>C (p.Leu487Pro) c.1202T>C (p.Leu401Pro) c.180+148T>C c.*193T>C (n.*193T>C) c.1574T>C (p.Leu525Pro) | |
| 22 | g.50625215A>T | CA412167315 | ARSA | c.1460T>A (p.Leu487Gln) c.1202T>A (p.Leu401Gln) c.180+148T>A c.*193T>A (n.*193T>A) c.1574T>A (p.Leu525Gln) | |
| 22 | g.50625216G>A | CA515390945 | ARSA | c.1459C>T (p.Leu487=) c.1201C>T (p.Leu401=) c.180+147C>T c.*192C>T (n.*192C>T) c.1573C>T (p.Leu525=) | ClinVar gnomAD v4 |
| 22 | g.50625216G>C | CA412167317 | ARSA | c.1459C>G (p.Leu487Val) c.1201C>G (p.Leu401Val) c.180+147C>G c.*192C>G (n.*192C>G) c.1573C>G (p.Leu525Val) | |
| 22 | g.50625216G= | CA2410958366 | ARSA | c.1459C= (p.Leu487=) c.1201C= (p.Leu401=) c.180+147C= c.*192C= (n.*192C=) c.1573C= (p.Leu525=) | |
| 22 | g.50625216G>T | CA412167318 | ARSA | c.1459C>A (p.Leu487Met) c.1201C>A (p.Leu401Met) c.180+147C>A c.*192C>A (n.*192C>A) c.1573C>A (p.Leu525Met) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625217G>A | CA515390947 | ARSA | c.1458C>T (p.Ala486=) c.1200C>T (p.Ala400=) c.180+146C>T c.*191C>T (n.*191C>T) c.1572C>T (p.Ala524=) | ClinVar |
| 22 | g.50625217G>C | CA515390948 | ARSA | c.1458C>G (p.Ala486=) c.1200C>G (p.Ala400=) c.180+146C>G c.*191C>G (n.*191C>G) c.1572C>G (p.Ala524=) | |
| 22 | g.50625217G>T | CA515390949 | ARSA | c.1458C>A (p.Ala486=) c.1200C>A (p.Ala400=) c.180+146C>A c.*191C>A (n.*191C>A) c.1572C>A (p.Ala524=) | |
| 22 | g.50625218G>A | CA412167324 | ARSA | c.1457C>T (p.Ala486Val) c.1199C>T (p.Ala400Val) c.180+145C>T c.*190C>T (n.*190C>T) c.1571C>T (p.Ala524Val) | gnomAD v4 |
| 22 | g.50625218G>C | CA412167345 | ARSA | c.1457C>G (p.Ala486Gly) c.1199C>G (p.Ala400Gly) c.180+145C>G c.*190C>G (n.*190C>G) c.1571C>G (p.Ala524Gly) | |
| 22 | g.50625218G>T | CA412167346 | ARSA | c.1457C>A (p.Ala486Asp) c.1199C>A (p.Ala400Asp) c.180+145C>A c.*190C>A (n.*190C>A) c.1571C>A (p.Ala524Asp) | |
| 22 | g.50625219C>A | CA412167350 | ARSA | c.1456G>T (p.Ala486Ser) c.1198G>T (p.Ala400Ser) c.180+144G>T c.*189G>T (n.*189G>T) c.1570G>T (p.Ala524Ser) | dbSNP gnomAD v4 |
| 22 | g.50625219C= | CA2410958367 | ARSA | c.1456G= (p.Ala486=) c.1198G= (p.Ala400=) c.180+144G= c.*189G= (n.*189G=) c.1570G= (p.Ala524=) | |
| 22 | g.50625219C>G | CA412167351 | ARSA | c.1456G>C (p.Ala486Pro) c.1198G>C (p.Ala400Pro) c.180+144G>C c.*189G>C (n.*189G>C) c.1570G>C (p.Ala524Pro) | |
| 22 | g.50625219C>T | CA10324723 | ARSA | c.1456G>A (p.Ala486Thr) c.1198G>A (p.Ala400Thr) c.180+144G>A c.*189G>A (n.*189G>A) c.1570G>A (p.Ala524Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625220G>A | CA325531174 | ARSA | c.1455C>T (p.Pro485=) c.1197C>T (p.Pro399=) c.180+143C>T c.*188C>T (n.*188C>T) c.1569C>T (p.Pro523=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.50625220G>C | CA515390961 | ARSA | c.1455C>G (p.Pro485=) c.1197C>G (p.Pro399=) c.180+143C>G c.*188C>G (n.*188C>G) c.1569C>G (p.Pro523=) | |
| 22 | g.50625220G= | CA2410958368 | ARSA | c.1455C= (p.Pro485=) c.1197C= (p.Pro399=) c.180+143C= c.*188C= (n.*188C=) c.1569C= (p.Pro523=) | |
| 22 | g.50625220G>T | CA515390958 | ARSA | c.1455C>A (p.Pro485=) c.1197C>A (p.Pro399=) c.180+143C>A c.*188C>A (n.*188C>A) c.1569C>A (p.Pro523=) | |
| 22 | g.50625223dup | CA2657590719 | ARSA | c.1455dup (p.Ala486ArgfsTer?) c.1197dup (p.Ala400ArgfsTer?) c.180+143dup c.*188dup (n.*188dup) c.1569dup (p.Ala524ArgfsTer?) | gnomAD v4 |
| 22 | g.50625221G>A | CA412167355 | ARSA | c.1454C>T (p.Pro485Leu) c.1196C>T (p.Pro399Leu) c.180+142C>T c.*187C>T (n.*187C>T) c.1568C>T (p.Pro523Leu) | gnomAD v4 |
| 22 | g.50625221G>C | CA412167363 | ARSA | c.1454C>G (p.Pro485Arg) c.1196C>G (p.Pro399Arg) c.180+142C>G c.*187C>G (n.*187C>G) c.1568C>G (p.Pro523Arg) | |
| 22 | g.50625221G>T | CA412167368 | ARSA | c.1454C>A (p.Pro485His) c.1196C>A (p.Pro399His) c.180+142C>A c.*187C>A (n.*187C>A) c.1568C>A (p.Pro523His) | |
| 22 | g.50625222G>A | CA412167379 | ARSA | c.1453C>T (p.Pro485Ser) c.1195C>T (p.Pro399Ser) c.180+141C>T c.*186C>T (n.*186C>T) c.1567C>T (p.Pro523Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625222G>C | CA412167375 | ARSA | c.1453C>G (p.Pro485Ala) c.1195C>G (p.Pro399Ala) c.180+141C>G c.*186C>G (n.*186C>G) c.1567C>G (p.Pro523Ala) | |
| 22 | g.50625222G= | CA2410958369 | ARSA | c.1453C= (p.Pro485=) c.1195C= (p.Pro399=) c.180+141C= c.*186C= (n.*186C=) c.1567C= (p.Pro523=) | |
| 22 | g.50625222G>T | CA412167374 | ARSA | c.1453C>A (p.Pro485Thr) c.1195C>A (p.Pro399Thr) c.180+141C>A c.*186C>A (n.*186C>A) c.1567C>A (p.Pro523Thr) | |
| 22 | g.50625223G>A | CA515390971 | ARSA | c.1452C>T (p.Asp484=) c.1194C>T (p.Asp398=) c.180+140C>T c.*185C>T (n.*185C>T) c.1566C>T (p.Asp522=) | gnomAD v4 |
| 22 | g.50625223G>C | CA412167382 | ARSA | c.1452C>G (p.Asp484Glu) c.1194C>G (p.Asp398Glu) c.180+140C>G c.*185C>G (n.*185C>G) c.1566C>G (p.Asp522Glu) | |
| 22 | g.50625223G>T | CA412167386 | ARSA | c.1452C>A (p.Asp484Glu) c.1194C>A (p.Asp398Glu) c.180+140C>A c.*185C>A (n.*185C>A) c.1566C>A (p.Asp522Glu) | |
| 22 | g.50625224del | CA2739268048 | ARSA | c.1451del (p.Asp484AlafsTer?) c.1193del (p.Asp398AlafsTer?) c.180+139del c.*184del (n.*184del) c.1565del (p.Asp522AlafsTer?) | ClinVar |
| 22 | g.50625224T>A | CA412167393 | ARSA | c.1451A>T (p.Asp484Val) c.1193A>T (p.Asp398Val) c.180+139A>T c.*184A>T (n.*184A>T) c.1565A>T (p.Asp522Val) | |
| 22 | g.50625224T>C | CA412167395 | ARSA | c.1451A>G (p.Asp484Gly) c.1193A>G (p.Asp398Gly) c.180+139A>G c.*184A>G (n.*184A>G) c.1565A>G (p.Asp522Gly) | |
| 22 | g.50625224T>G | CA412167396 | ARSA | c.1451A>C (p.Asp484Ala) c.1193A>C (p.Asp398Ala) c.180+139A>C c.*184A>C (n.*184A>C) c.1565A>C (p.Asp522Ala) | |
| 22 | g.50625225C>A | CA412167398 | ARSA | c.1450G>T (p.Asp484Tyr) c.1192G>T (p.Asp398Tyr) c.180+138G>T c.*183G>T (n.*183G>T) c.1564G>T (p.Asp522Tyr) | |
| 22 | g.50625225C= | CA2410958370 | ARSA | c.1450G= (p.Asp484=) c.1192G= (p.Asp398=) c.180+138G= c.*183G= (n.*183G=) c.1564G= (p.Asp522=) | |
| 22 | g.50625225C>G | CA10324724 | ARSA | c.1450G>C (p.Asp484His) c.1192G>C (p.Asp398His) c.180+138G>C c.*183G>C (n.*183G>C) c.1564G>C (p.Asp522His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625225C>T | CA412167405 | ARSA | c.1450G>A (p.Asp484Asn) c.1192G>A (p.Asp398Asn) c.180+138G>A c.*183G>A (n.*183G>A) c.1564G>A (p.Asp522Asn) | gnomAD v4 |
| 22 | g.50625226C>A | CA412167418 | ARSA | c.1449G>T (p.Glu483Asp) c.1191G>T (p.Glu397Asp) c.180+137G>T c.*182G>T (n.*182G>T) c.1563G>T (p.Glu521Asp) | |
| 22 | g.50625226C>G | CA412167424 | ARSA | c.1449G>C (p.Glu483Asp) c.1191G>C (p.Glu397Asp) c.180+137G>C c.*182G>C (n.*182G>C) c.1563G>C (p.Glu521Asp) | |
| 22 | g.50625226C>T | CA515390982 | ARSA | c.1449G>A (p.Glu483=) c.1191G>A (p.Glu397=) c.180+137G>A c.*182G>A (n.*182G>A) c.1563G>A (p.Glu521=) | |
| 22 | g.50625227T>A | CA412167430 | ARSA | c.1448A>T (p.Glu483Val) c.1190A>T (p.Glu397Val) c.180+136A>T c.*181A>T (n.*181A>T) c.1562A>T (p.Glu521Val) | |
| 22 | g.50625227T>C | CA412167436 | ARSA | c.1448A>G (p.Glu483Gly) c.1190A>G (p.Glu397Gly) c.180+136A>G c.*181A>G (n.*181A>G) c.1562A>G (p.Glu521Gly) | |
| 22 | g.50625227T>G | CA412167439 | ARSA | c.1448A>C (p.Glu483Ala) c.1190A>C (p.Glu397Ala) c.180+136A>C c.*181A>C (n.*181A>C) c.1562A>C (p.Glu521Ala) | |
| 22 | g.50625228C>A | CA10324725 | ARSA | c.1447G>T (p.Glu483Ter) c.1189G>T (p.Glu397Ter) c.180+135G>T c.*180G>T (n.*180G>T) c.1561G>T (p.Glu521Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625228C= | CA2410958371 | ARSA | c.1447G= (p.Glu483=) c.1189G= (p.Glu397=) c.180+135G= c.*180G= (n.*180G=) c.1561G= (p.Glu521=) | |
| 22 | g.50625228C>G | CA412167450 | ARSA | c.1447G>C (p.Glu483Gln) c.1189G>C (p.Glu397Gln) c.180+135G>C c.*180G>C (n.*180G>C) c.1561G>C (p.Glu521Gln) | |
| 22 | g.50625228C>T | CA247540 | ARSA | c.1447G>A (p.Glu483Lys) c.1189G>A (p.Glu397Lys) c.180+135G>A c.*180G>A (n.*180G>A) c.1561G>A (p.Glu521Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625229G>A | CA325531179 | ARSA | c.1446C>T (p.Gly482=) c.1188C>T (p.Gly396=) c.180+134C>T c.*179C>T (n.*179C>T) c.1560C>T (p.Gly520=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625229G>C | CA515390988 | ARSA | c.1446C>G (p.Gly482=) c.1188C>G (p.Gly396=) c.180+134C>G c.*179C>G (n.*179C>G) c.1560C>G (p.Gly520=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625229G= | CA2410958372 | ARSA | c.1446C= (p.Gly482=) c.1188C= (p.Gly396=) c.180+134C= c.*179C= (n.*179C=) c.1560C= (p.Gly520=) | |
| 22 | g.50625229G>T | CA325531181 | ARSA | c.1446C>A (p.Gly482=) c.1188C>A (p.Gly396=) c.180+134C>A c.*179C>A (n.*179C>A) c.1560C>A (p.Gly520=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625230C>A | CA412167459 | ARSA | c.1445G>T (p.Gly482Val) c.1187G>T (p.Gly396Val) c.180+133G>T c.*178G>T (n.*178G>T) c.1559G>T (p.Gly520Val) | |
| 22 | g.50625230C= | CA2410958373 | ARSA | c.1445G= (p.Gly482=) c.1187G= (p.Gly396=) c.180+133G= c.*178G= (n.*178G=) c.1559G= (p.Gly520=) | |
| 22 | g.50625230C>G | CA412167463 | ARSA | c.1445G>C (p.Gly482Ala) c.1187G>C (p.Gly396Ala) c.180+133G>C c.*178G>C (n.*178G>C) c.1559G>C (p.Gly520Ala) | |
| 22 | g.50625230C>T | CA10324726 | ARSA | c.1445G>A (p.Gly482Asp) c.1187G>A (p.Gly396Asp) c.180+133G>A c.*178G>A (n.*178G>A) c.1559G>A (p.Gly520Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625233del | CA2657590774 | ARSA | c.1445del (p.Gly482AlafsTer?) c.1187del (p.Gly396AlafsTer?) c.180+133del c.*178del (n.*178del) c.1559del (p.Gly520AlafsTer?) | gnomAD v4 |
| 22 | g.50625231C>A | CA412167467 | ARSA | c.1444G>T (p.Gly482Cys) c.1186G>T (p.Gly396Cys) c.180+132G>T c.*177G>T (n.*177G>T) c.1558G>T (p.Gly520Cys) | |
| 22 | g.50625231C= | CA2410958374 | ARSA | c.1444G= (p.Gly482=) c.1186G= (p.Gly396=) c.180+132G= c.*177G= (n.*177G=) c.1558G= (p.Gly520=) | |
| 22 | g.50625231C>G | CA412167468 | ARSA | c.1444G>C (p.Gly482Arg) c.1186G>C (p.Gly396Arg) c.180+132G>C c.*177G>C (n.*177G>C) c.1558G>C (p.Gly520Arg) | |
| 22 | g.50625231C>T | CA10324727 | ARSA | c.1444G>A (p.Gly482Ser) c.1186G>A (p.Gly396Ser) c.180+132G>A c.*177G>A (n.*177G>A) c.1558G>A (p.Gly520Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625232C>A | CA515391002 | ARSA | c.1443G>T (p.Arg481=) c.1185G>T (p.Arg395=) c.180+131G>T c.*176G>T (n.*176G>T) c.1557G>T (p.Arg519=) | |
| 22 | g.50625232C= | CA2410958375 | ARSA | c.1443G= (p.Arg481=) c.1185G= (p.Arg395=) c.180+131G= c.*176G= (n.*176G=) c.1557G= (p.Arg519=) | |
| 22 | g.50625232C>G | CA515391005 | ARSA | c.1443G>C (p.Arg481=) c.1185G>C (p.Arg395=) c.180+131G>C c.*176G>C (n.*176G>C) c.1557G>C (p.Arg519=) | |
| 22 | g.50625232C>T | CA515391006 | ARSA | c.1443G>A (p.Arg481=) c.1185G>A (p.Arg395=) c.180+131G>A c.*176G>A (n.*176G>A) c.1557G>A (p.Arg519=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625233C>A | CA325531185 | ARSA | c.1442G>T (p.Arg481Leu) c.1184G>T (p.Arg395Leu) c.180+130G>T c.*175G>T (n.*175G>T) c.1556G>T (p.Arg519Leu) | dbSNP gnomAD v4 |
| 22 | g.50625233C= | CA2410958376 | ARSA | c.1442G= (p.Arg481=) c.1184G= (p.Arg395=) c.180+130G= c.*175G= (n.*175G=) c.1556G= (p.Arg519=) | |
| 22 | g.50625233C>G | CA412167471 | ARSA | c.1442G>C (p.Arg481Pro) c.1184G>C (p.Arg395Pro) c.180+130G>C c.*175G>C (n.*175G>C) c.1556G>C (p.Arg519Pro) | ClinVar gnomAD v4 |
| 22 | g.50625233C>T | CA10324728 | ARSA | c.1442G>A (p.Arg481Gln) c.1184G>A (p.Arg395Gln) c.180+130G>A c.*175G>A (n.*175G>A) c.1556G>A (p.Arg519Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625234G>A | CA10324729 | ARSA | c.1441C>T (p.Arg481Trp) c.1183C>T (p.Arg395Trp) c.180+129C>T c.*174C>T (n.*174C>T) c.1555C>T (p.Arg519Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625234G>C | CA412167480 | ARSA | c.1441C>G (p.Arg481Gly) c.1183C>G (p.Arg395Gly) c.180+129C>G c.*174C>G (n.*174C>G) c.1555C>G (p.Arg519Gly) | |
| 22 | g.50625234G= | CA2410958377 | ARSA | c.1441C= (p.Arg481=) c.1183C= (p.Arg395=) c.180+129C= c.*174C= (n.*174C=) c.1555C= (p.Arg519=) | |
| 22 | g.50625234G>T | CA515391019 | ARSA | c.1441C>A (p.Arg481=) c.1183C>A (p.Arg395=) c.180+129C>A c.*174C>A (n.*174C>A) c.1555C>A (p.Arg519=) | ClinVar dbSNP |
| 22 | g.50625235G>A | CA515391020 | ARSA | c.1440C>T (p.Ala480=) c.1182C>T (p.Ala394=) c.180+128C>T c.*173C>T (n.*173C>T) c.1554C>T (p.Ala518=) | |
| 22 | g.50625235G>C | CA515391021 | ARSA | c.1440C>G (p.Ala480=) c.1182C>G (p.Ala394=) c.180+128C>G c.*173C>G (n.*173C>G) c.1554C>G (p.Ala518=) | |
| 22 | g.50625235G>T | CA515391022 | ARSA | c.1440C>A (p.Ala480=) c.1182C>A (p.Ala394=) c.180+128C>A c.*173C>A (n.*173C>A) c.1554C>A (p.Ala518=) | gnomAD v4 |
| 22 | g.50625236G>A | CA412167483 | ARSA | c.1439C>T (p.Ala480Val) c.1181C>T (p.Ala394Val) c.180+127C>T c.*172C>T (n.*172C>T) c.1553C>T (p.Ala518Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625236G>C | CA412167491 | ARSA | c.1439C>G (p.Ala480Gly) c.1181C>G (p.Ala394Gly) c.180+127C>G c.*172C>G (n.*172C>G) c.1553C>G (p.Ala518Gly) | |
| 22 | g.50625236G= | CA2410958378 | ARSA | c.1439C= (p.Ala480=) c.1181C= (p.Ala394=) c.180+127C= c.*172C= (n.*172C=) c.1553C= (p.Ala518=) | |
| 22 | g.50625236G>T | CA412167494 | ARSA | c.1439C>A (p.Ala480Asp) c.1181C>A (p.Ala394Asp) c.180+127C>A c.*172C>A (n.*172C>A) c.1553C>A (p.Ala518Asp) | |
| 22 | g.50625237C>A | CA412167500 | ARSA | c.1438G>T (p.Ala480Ser) c.1180G>T (p.Ala394Ser) c.180+126G>T c.*171G>T (n.*171G>T) c.1552G>T (p.Ala518Ser) | |
| 22 | g.50625237C>G | CA412167504 | ARSA | c.1438G>C (p.Ala480Pro) c.1180G>C (p.Ala394Pro) c.180+126G>C c.*171G>C (n.*171G>C) c.1552G>C (p.Ala518Pro) | |
| 22 | g.50625237C>T | CA412167502 | ARSA | c.1438G>A (p.Ala480Thr) c.1180G>A (p.Ala394Thr) c.180+126G>A c.*171G>A (n.*171G>A) c.1552G>A (p.Ala518Thr) | |
| 22 | g.50625238C>A | CA515391036 | ARSA | c.1437G>T (p.Val479=) c.1179G>T (p.Val393=) c.180+125G>T c.*170G>T (n.*170G>T) c.1551G>T (p.Val517=) | |
| 22 | g.50625238C>G | CA515391037 | ARSA | c.1437G>C (p.Val479=) c.1179G>C (p.Val393=) c.180+125G>C c.*170G>C (n.*170G>C) c.1551G>C (p.Val517=) | |
| 22 | g.50625238C>T | CA515391038 | ARSA | c.1437G>A (p.Val479=) c.1179G>A (p.Val393=) c.180+125G>A c.*170G>A (n.*170G>A) c.1551G>A (p.Val517=) | |
| 22 | g.50625239A>C | CA412167506 | ARSA | c.1436T>G (p.Val479Gly) c.1178T>G (p.Val393Gly) c.180+124T>G c.*169T>G (n.*169T>G) c.1550T>G (p.Val517Gly) | |
| 22 | g.50625239A>G | CA412167507 | ARSA | c.1436T>C (p.Val479Ala) c.1178T>C (p.Val393Ala) c.180+124T>C c.*169T>C (n.*169T>C) c.1550T>C (p.Val517Ala) | ClinVar |
| 22 | g.50625239A>T | CA412167511 | ARSA | c.1436T>A (p.Val479Glu) c.1178T>A (p.Val393Glu) c.180+124T>A c.*169T>A (n.*169T>A) c.1550T>A (p.Val517Glu) | |
| 22 | g.50625240C>A | CA412167516 | ARSA | c.1435G>T (p.Val479Leu) c.1177G>T (p.Val393Leu) c.180+123G>T c.*168G>T (n.*168G>T) c.1549G>T (p.Val517Leu) | |
| 22 | g.50625240C= | CA2410958379 | ARSA | c.1435G= (p.Val479=) c.1177G= (p.Val393=) c.180+123G= c.*168G= (n.*168G=) c.1549G= (p.Val517=) | |
| 22 | g.50625240C>G | CA412167518 | ARSA | c.1435G>C (p.Val479Leu) c.1177G>C (p.Val393Leu) c.180+123G>C c.*168G>C (n.*168G>C) c.1549G>C (p.Val517Leu) | |
| 22 | g.50625240C>T | CA325531190 | ARSA | c.1435G>A (p.Val479Met) c.1177G>A (p.Val393Met) c.180+123G>A c.*168G>A (n.*168G>A) c.1549G>A (p.Val517Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625241del | CA2657590802 | ARSA | c.1435del (p.Val479TrpfsTer?) c.1177del (p.Val393TrpfsTer?) c.180+123del c.*168del (n.*168del) c.1549del (p.Val517TrpfsTer?) | gnomAD v4 |