Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) |