| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50623526_50623535delinsACCTAGTGGG | CA2410957449 | ARSA | c.*1610_*1619delinsCCCACTAGGT (n.*1610_*1619delinsCCCACTAGGT) c.302+239_302+248delinsCCCACTAGGT | |
| 22 | g.50623528_50623536del | CA754066061 | ARSA | c.*1610_*1618del (n.*1610_*1618del) c.302+239_302+247del | dbSNP |
| 22 | g.50623535G>A | CA2738233910 | ARSA | c.*1610C>T (n.*1610C>T) c.302+239C>T | dbSNP |
| 22 | g.50623537T>C | CA2819315213 | ARSA | c.*1608A>G (n.*1608A>G) c.302+237A>G | |
| 22 | g.50623538G>A | CA2819315216 | ARSA | c.*1607C>T (n.*1607C>T) c.302+236C>T | |
| 22 | g.50623538_50623539delinsGA | CA2410957453 | ARSA | c.*1606_*1607delinsTC (n.*1606_*1607delinsTC) c.302+235_302+236delinsTC | |
| 22 | g.50623540del | CA2410957454 | ARSA | c.*1606del (n.*1606del) c.302+235del | dbSNP |
| 22 | g.50623543G>C | CA325530581 | ARSA | c.*1602C>G (n.*1602C>G) c.302+231C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50623543G= | CA2410957455 | ARSA | c.*1602C= (n.*1602C=) c.302+231C= | |
| 22 | g.50623546T>C | CA2738233913 | ARSA | c.*1599A>G (n.*1599A>G) c.302+228A>G | dbSNP |
| 22 | g.50623546_50623547delinsTC | CA2410957456 | ARSA | c.*1598_*1599delinsGA (n.*1598_*1599delinsGA) c.302+227_302+228delinsGA | |
| 22 | g.50623547del | CA2410957457 | ARSA | c.*1598del (n.*1598del) c.302+227del | dbSNP |
| 22 | g.50623547C= | CA2410957458 | ARSA | c.*1598G= (n.*1598G=) c.302+227G= | |
| 22 | g.50623547C>T | CA325530584 | ARSA | c.*1598G>A (n.*1598G>A) c.302+227G>A | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50623551C= | CA2410957459 | ARSA | c.*1594G= (n.*1594G=) c.302+223G= | |
| 22 | g.50623551C>T | CA640051191 | ARSA | c.*1594G>A (n.*1594G>A) c.302+223G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50623552A>G | CA1026678417 | ARSA | c.*1593T>C (n.*1593T>C) c.302+222T>C | gnomAD v3 gnomAD v4 |
| 22 | g.50623555T>C | CA325530586 | ARSA | c.*1590A>G (n.*1590A>G) c.302+219A>G | dbSNP |
| 22 | g.50623555T= | CA2410957460 | ARSA | c.*1590A= (n.*1590A=) c.302+219A= | |
| 22 | g.50623558A= | CA2410957461 | ARSA | c.*1587T= (n.*1587T=) c.302+216T= | |
| 22 | g.50623558A>G | CA754066073 | ARSA | c.*1587T>C (n.*1587T>C) c.302+216T>C | dbSNP |
| 22 | g.50623567A= | CA2410957462 | ARSA | c.*1578T= (n.*1578T=) c.302+207T= | |
| 22 | g.50623567A>G | CA754066078 | ARSA | c.*1578T>C (n.*1578T>C) c.302+207T>C | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50623569T>C | CA640051193 | ARSA | c.*1576A>G (n.*1576A>G) c.302+205A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50623569T>G | CA10654215 | ARSA | c.*1576A>C (n.*1576A>C) c.302+205A>C | ClinVar dbSNP |
| 22 | g.50623569T= | CA2410957463 | ARSA | c.*1576A= (n.*1576A=) c.302+205A= | |
| 22 | g.50623574G>A | CA1026678421 | ARSA | c.*1571C>T (n.*1571C>T) c.302+200C>T | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50623574G= | CA2410957464 | ARSA | c.*1571C= (n.*1571C=) c.302+200C= | |
| 22 | g.50623575G>A | CA10653673 | ARSA | c.*1570C>T (n.*1570C>T) c.302+199C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50623575G= | CA2410957465 | ARSA | c.*1570C= (n.*1570C=) c.302+199C= | |
| 22 | g.50623583C= | CA2410957466 | ARSA | c.*1562G= (n.*1562G=) c.302+191G= | |
| 22 | g.50623583C>T | CA325530588 | ARSA | c.*1562G>A (n.*1562G>A) c.302+191G>A | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50623586C= | CA2410957467 | ARSA | c.*1559G= (n.*1559G=) c.302+188G= | |
| 22 | g.50623586C>G | CA2738181233 | ARSA | c.*1559G>C (n.*1559G>C) c.302+188G>C | dbSNP |
| 22 | g.50623586C>T | CA2410957468 | ARSA | c.*1559G>A (n.*1559G>A) c.302+188G>A | dbSNP |
| 22 | g.50623589C>A | CA2410957470 | ARSA | c.*1556G>T (n.*1556G>T) c.302+185G>T | dbSNP |
| 22 | g.50623589C= | CA2410957469 | ARSA | c.*1556G= (n.*1556G=) c.302+185G= | |
| 22 | g.50623589C>T | CA325530589 | ARSA | c.*1556G>A (n.*1556G>A) c.302+185G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50623590G>A | CA325530592 | ARSA | c.*1555C>T (n.*1555C>T) c.302+184C>T | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50623590G= | CA2410957471 | ARSA | c.*1555C= (n.*1555C=) c.302+184C= | |
| 22 | g.50623594G>A | CA754066099 | ARSA | c.*1551C>T (n.*1551C>T) c.302+180C>T | dbSNP |
| 22 | g.50623594G= | CA2410957472 | ARSA | c.*1551C= (n.*1551C=) c.302+180C= | |
| 22 | g.50623596C= | CA2410957474 | ARSA | c.*1549G= (n.*1549G=) c.302+178G= | |
| 22 | g.50623596C>G | CA2410957475 | ARSA | c.*1549G>C (n.*1549G>C) c.302+178G>C | dbSNP |
| 22 | g.50623596C>T | CA2410957476 | ARSA | c.*1549G>A (n.*1549G>A) c.302+178G>A | dbSNP |
| 22 | g.50623596_50623600delinsCTAAT | CA2410957473 | ARSA | c.*1545_*1549delinsATTAG (n.*1545_*1549delinsATTAG) c.302+174_302+178delinsATTAG | |
| 22 | g.50623597_50623602delinsTAATTA | CA2410957477 | ARSA | c.*1543_*1548delinsTAATTA (n.*1543_*1548delinsTAATTA) c.302+172_302+177delinsTAATTA | |
| 22 | g.50623600_50623603del | CA754066101 | ARSA | c.*1545_*1548del (n.*1545_*1548del) c.302+174_302+177del | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50623600_50623604del | CA754066103 | ARSA | c.*1543_*1547del (n.*1543_*1547del) c.302+172_302+176del | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50623604A= | CA2410957478 | ARSA | c.*1541T= (n.*1541T=) c.302+170T= | |
| 22 | g.50623604A>C | CA640051197 | ARSA | c.*1541T>G (n.*1541T>G) c.302+170T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50623605A= | CA2410957479 | ARSA | c.*1540T= (n.*1540T=) c.302+169T= | |
| 22 | g.50623605A>T | CA325530601 | ARSA | c.*1540T>A (n.*1540T>A) c.302+169T>A | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50623609A= | CA2410957480 | ARSA | c.*1536T= (n.*1536T=) c.302+165T= | |
| 22 | g.50623609A>C | CA2559426456 | ARSA | c.*1536T>G (n.*1536T>G) c.302+165T>G | |
| 22 | g.50623609A>G | CA325530602 | ARSA | c.*1536T>C (n.*1536T>C) c.302+165T>C | dbSNP |
| 22 | g.50623612T>C | CA325530603 | ARSA | c.*1533A>G (n.*1533A>G) c.302+162A>G | dbSNP |
| 22 | g.50623612T= | CA2410957481 | ARSA | c.*1533A= (n.*1533A=) c.302+162A= | |
| 22 | g.50623614G= | CA2410957482 | ARSA | c.*1531C= (n.*1531C=) c.302+160C= | |
| 22 | g.50623614G>T | CA515248750 | ARSA | c.*1531C>A (n.*1531C>A) c.302+160C>A | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50623619C>T | CA2819315224 | ARSA | c.*1526G>A (n.*1526G>A) c.302+155G>A | |
| 22 | g.50623621A= | CA2410957483 | ARSA | c.*1524T= (n.*1524T=) c.302+153T= | |
| 22 | g.50623621A>T | CA2410957484 | ARSA | c.*1524T>A (n.*1524T>A) c.302+153T>A | dbSNP |
| 22 | g.50623623G>A | CA2410957486 | ARSA | c.*1522C>T (n.*1522C>T) c.302+151C>T | dbSNP |
| 22 | g.50623623G= | CA2410957485 | ARSA | c.*1522C= (n.*1522C=) c.302+151C= | |
| 22 | g.50623623G>T | CA10651538 | ARSA | c.*1522C>A (n.*1522C>A) c.302+151C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50623625G>A | CA2410957488 | ARSA | c.*1520C>T (n.*1520C>T) c.302+149C>T | dbSNP |
| 22 | g.50623625G= | CA2410957487 | ARSA | c.*1520C= (n.*1520C=) c.302+149C= | |
| 22 | g.50623626T>A | CA2657589107 | ARSA | c.*1519A>T (n.*1519A>T) c.302+148A>T | gnomAD v4 |
| 22 | g.50623626T>C | CA640051200 | ARSA | c.*1519A>G (n.*1519A>G) c.302+148A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50623626T= | CA2410957489 | ARSA | c.*1519A= (n.*1519A=) c.302+148A= | |
| 22 | g.50623627G>T | CA2657589108 | ARSA | c.*1518C>A (n.*1518C>A) c.302+147C>A | gnomAD v4 |
| 22 | g.50623628G>A | CA325530608 | ARSA | c.*1517C>T (n.*1517C>T) c.302+146C>T | dbSNP |
| 22 | g.50623628G= | CA2410957490 | ARSA | c.*1517C= (n.*1517C=) c.302+146C= | |
| 22 | g.50623629T>A | CA2657589109 | ARSA | c.*1516A>T (n.*1516A>T) c.302+145A>T | gnomAD v4 |
| 22 | g.50623629T>G | CA754066117 | ARSA | c.*1516A>C (n.*1516A>C) c.302+145A>C | dbSNP |
| 22 | g.50623629T= | CA2410957491 | ARSA | c.*1516A= (n.*1516A=) c.302+145A= | |
| 22 | g.50623630G>T | CA2657589110 | ARSA | c.*1515C>A (n.*1515C>A) c.302+144C>A | gnomAD v4 |
| 22 | g.50623631G>A | CA2657589111 | ARSA | c.*1514C>T (n.*1514C>T) c.302+143C>T | gnomAD v4 |
| 22 | g.50623631G>T | CA2657589112 | ARSA | c.*1514C>A (n.*1514C>A) c.302+143C>A | gnomAD v4 |
| 22 | g.50623632T>A | CA2819315232 | ARSA | c.*1513A>T (n.*1513A>T) c.302+142A>T | |
| 22 | g.50623632T>C | CA2410957493 | ARSA | c.*1513A>G (n.*1513A>G) c.302+142A>G | dbSNP gnomAD v4 |
| 22 | g.50623632T>G | CA2410957494 | ARSA | c.*1513A>C (n.*1513A>C) c.302+142A>C | dbSNP |
| 22 | g.50623632T= | CA2410957492 | ARSA | c.*1513A= (n.*1513A=) c.302+142A= | |
| 22 | g.50623634C>A | CA2657589113 | ARSA | c.*1511G>T (n.*1511G>T) c.302+140G>T | gnomAD v4 |
| 22 | g.50623634C>T | CA2657589114 | ARSA | c.*1511G>A (n.*1511G>A) c.302+140G>A | gnomAD v4 |