Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.68309297_68309565delinsCTTGGGAGGCCGAGGCAGGAGAATCGCTTGAACCTGTGAGGCGGAAGTTGCAGTGAGCCGAGATTGTGCCACTACACTCCAGCCTAGACAACAGAGTGAGATTATGTTTCAAAAAAAAAAAAAAAAAAAAGAACCCACTTCACTCTTGCTTATAACTTTTATAACTTCCGCCTCAAAACGAGGCTACTCATTAATAAATATCAGTTTAGTTCTTTGAAAAAAATAAATATTGGCCAGGTGTGGTGGCTCACGTCTGTAATCCTAGCACT | CA1917275573 | PBLD | c.-59-2662_-59-2394delinsAGTGCTAGGATTACAGACGTGAGCCACCACACCTGGCCAATATTTATTTTTTTCAAAGAACTAAACTGATATTTATTAATGAGTAGCCTCGTTTTGAGGCGGAAGTTATAAAAGTTATAAGCAAGAGTGAAGTGGGTTCTTTTTTTTTTTTTTTTTTTTGAAACATAATCTCACTCTGTTGTCTAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACTTCCGCCTCACAGGTTCAAGCGATTCTCCTGCCTCGGCCTCCCAAG (n.-59-2662_-59-2394delinsAGTGCTAGGATTACAGACGTGAGCCACCACACCTGGCCAATATTTATTTTTTTCAAAGAACTAAACTGATATTTATTAATGAGTAGCCTCGTTTTGAGGCGGAAGTTATAAAAGTTATAAGCAAGAGTGAAGTGGGTTCTTTTTTTTTTTTTTTTTTTTGAAACATAATCTCACTCTGTTGTCTAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACTTCCGCCTCACAGGTTCAAGCGATTCTCCTGCCTCGGCCTCCCAAG) c.-62-2659_-62-2391delinsAGTGCTAGGATTACAGACGTGAGCCACCACACCTGGCCAATATTTATTTTTTTCAAAGAACTAAACTGATATTTATTAATGAGTAGCCTCGTTTTGAGGCGGAAGTTATAAAAGTTATAAGCAAGAGTGAAGTGGGTTCTTTTTTTTTTTTTTTTTTTTGAAACATAATCTCACTCTGTTGTCTAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACTTCCGCCTCACAGGTTCAAGCGATTCTCCTGCCTCGGCCTCCCAAG (n.-62-2659_-62-2391delinsAGTGCTAGGATTACAGACGTGAGCCACCACACCTGGCCAATATTTATTTTTTTCAAAGAACTAAACTGATATTTATTAATGAGTAGCCTCGTTTTGAGGCGGAAGTTATAAAAGTTATAAGCAAGAGTGAAGTGGGTTCTTTTTTTTTTTTTTTTTTTTGAAACATAATCTCACTCTGTTGTCTAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACTTCCGCCTCACAGGTTCAAGCGATTCTCCTGCCTCGGCCTCCCAAG) | |
10 | g.68309316_68309583del | CA929538116 | PBLD | c.-59-2662_-59-2395del (n.-59-2662_-59-2395del) c.-62-2659_-62-2392del (n.-62-2659_-62-2392del) | dbSNP |
10 | g.68309400A>C | CA929538269 | PBLD | c.-59-2497T>G (n.-59-2497T>G) c.-62-2494T>G (n.-62-2494T>G) | gnomAD v3 gnomAD v4 |
10 | g.68309400A>T | CA929538283 | PBLD | c.-59-2497T>A (n.-59-2497T>A) c.-62-2494T>A (n.-62-2494T>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68309402G>A | CA929538285 | PBLD | c.-59-2499C>T (n.-59-2499C>T) c.-62-2496C>T (n.-62-2496C>T) | gnomAD v3 gnomAD v4 |
10 | g.68309402G= | CA1917275620 | PBLD | c.-59-2499C= (n.-59-2499C=) c.-62-2496C= (n.-62-2496C=) | |
10 | g.68309402G>T | CA593799296 | PBLD | c.-59-2499C>A (n.-59-2499C>A) c.-62-2496C>A (n.-62-2496C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.68309403T>C | CA1917275622 | PBLD | c.-59-2500A>G (n.-59-2500A>G) c.-62-2497A>G (n.-62-2497A>G) | dbSNP |
10 | g.68309403T= | CA1917275621 | PBLD | c.-59-2500A= (n.-59-2500A=) c.-62-2497A= (n.-62-2497A=) | |
10 | g.68309405del | CA2588827744 | PBLD | c.-59-2500del (n.-59-2500del) c.-62-2497del (n.-62-2497del) | gnomAD v3 gnomAD v4 |
10 | g.68309404T>C | CA929538292 | PBLD | c.-59-2501A>G (n.-59-2501A>G) c.-62-2498A>G (n.-62-2498A>G) | gnomAD v3 gnomAD v4 |
10 | g.68309404_68309407delinsTTCA | CA1917275623 | PBLD | c.-59-2504_-59-2501delinsTGAA (n.-59-2504_-59-2501delinsTGAA) c.-62-2501_-62-2498delinsTGAA (n.-62-2501_-62-2498delinsTGAA) | |
10 | g.68309404_68309414delinsTTCAAAAAAAA | CA1917275624 | PBLD | c.-59-2511_-59-2501delinsTTTTTTTTGAA (n.-59-2511_-59-2501delinsTTTTTTTTGAA) c.-62-2508_-62-2498delinsTTTTTTTTGAA (n.-62-2508_-62-2498delinsTTTTTTTTGAA) | |
10 | g.68309405T>A | CA667836999 | PBLD | c.-59-2502A>T (n.-59-2502A>T) c.-62-2499A>T (n.-62-2499A>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68309405T= | CA1917275625 | PBLD | c.-59-2502A= (n.-59-2502A=) c.-62-2499A= (n.-62-2499A=) | |
10 | g.68309405_68309406del | CA929538310 | PBLD | c.-59-2503_-59-2502del (n.-59-2503_-59-2502del) c.-62-2500_-62-2499del (n.-62-2500_-62-2499del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68309405_68309406delinsTC | CA1917275627 | PBLD | c.-59-2503_-59-2502delinsGA (n.-59-2503_-59-2502delinsGA) c.-62-2500_-62-2499delinsGA (n.-62-2500_-62-2499delinsGA) | |
10 | g.68309405_68309407del | CA918698419 | PBLD | c.-59-2504_-59-2502del (n.-59-2504_-59-2502del) c.-62-2501_-62-2499del (n.-62-2501_-62-2499del) | dbSNP |
10 | g.68309405_68309408delinsTCAA | CA1917275626 | PBLD | c.-59-2505_-59-2502delinsTTGA (n.-59-2505_-59-2502delinsTTGA) c.-62-2502_-62-2499delinsTTGA (n.-62-2502_-62-2499delinsTTGA) | |
10 | g.68309405_68309414del | CA918698420 | PBLD | c.-59-2511_-59-2502del (n.-59-2511_-59-2502del) c.-62-2508_-62-2499del (n.-62-2508_-62-2499del) | dbSNP |
10 | g.68309405_68309415delinsTCAAAAAAAAA | CA1917275628 | PBLD | c.-59-2512_-59-2502delinsTTTTTTTTTGA (n.-59-2512_-59-2502delinsTTTTTTTTTGA) c.-62-2509_-62-2499delinsTTTTTTTTTGA (n.-62-2509_-62-2499delinsTTTTTTTTTGA) | |
10 | g.68309405_68309406insA | CA208215301 | PBLD | c.-59-2503_-59-2502insT (n.-59-2503_-59-2502insT) c.-62-2500_-62-2499insT (n.-62-2500_-62-2499insT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.68309405_68309406insAA | CA593799300 | PBLD | c.-59-2503_-59-2502insTT (n.-59-2503_-59-2502insTT) c.-62-2500_-62-2499insTT (n.-62-2500_-62-2499insTT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.68309405_68309406insTA | CA2722017570 | PBLD | c.-59-2503_-59-2502insTA (n.-59-2503_-59-2502insTA) c.-62-2500_-62-2499insTA (n.-62-2500_-62-2499insTA) | dbSNP |
10 | g.68309406del | CA918698423 | PBLD | c.-59-2503del (n.-59-2503del) c.-62-2500del (n.-62-2500del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68309406C>A | CA593799303 | PBLD | c.-59-2503G>T (n.-59-2503G>T) c.-62-2500G>T (n.-62-2500G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.68309406C= | CA1917275629 | PBLD | c.-59-2503G= (n.-59-2503G=) c.-62-2500G= (n.-62-2500G=) | |
10 | g.68309406C>T | CA929538321 | PBLD | c.-59-2503G>A (n.-59-2503G>A) c.-62-2500G>A (n.-62-2500G>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68309406_68309408del | CA593799299 | PBLD | c.-59-2505_-59-2503del (n.-59-2505_-59-2503del) c.-62-2502_-62-2500del (n.-62-2502_-62-2500del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.68309406_68309415del | CA208215302 | PBLD | c.-59-2512_-59-2503del (n.-59-2512_-59-2503del) c.-62-2509_-62-2500del (n.-62-2509_-62-2500del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68309406_68309418delinsCAAAAAAAAAAAA | CA1917275630 | PBLD | c.-59-2515_-59-2503delinsTTTTTTTTTTTTG (n.-59-2515_-59-2503delinsTTTTTTTTTTTTG) c.-62-2512_-62-2500delinsTTTTTTTTTTTTG (n.-62-2512_-62-2500delinsTTTTTTTTTTTTG) | |
10 | g.68309407A= | CA1917275631 | PBLD | c.-59-2504T= (n.-59-2504T=) c.-62-2501T= (n.-62-2501T=) | |
10 | g.68309407A>C | CA593799310 | PBLD | c.-59-2504T>G (n.-59-2504T>G) c.-62-2501T>G (n.-62-2501T>G) | dbSNP gnomAD v2 |
10 | g.68309426_68309427insAAAAAAAAAAAAAAAAAAAAA | CA929538562 | PBLD | c.-59-2504_-59-2503insTTTTTTTTTTTTTTTTTTTTT (n.-59-2504_-59-2503insTTTTTTTTTTTTTTTTTTTTT) c.-62-2501_-62-2500insTTTTTTTTTTTTTTTTTTTTT (n.-62-2501_-62-2500insTTTTTTTTTTTTTTTTTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68309426_68309427insAAAAAAAAAAAAAAAAAAAAAA | CA929538542 | PBLD | c.-59-2504_-59-2503insTTTTTTTTTTTTTTTTTTTTTT (n.-59-2504_-59-2503insTTTTTTTTTTTTTTTTTTTTTT) c.-62-2501_-62-2500insTTTTTTTTTTTTTTTTTTTTTT (n.-62-2501_-62-2500insTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
10 | g.68309426_68309427insAAAAAAAAAAAAAAAAAAAAAAA | CA2588827757 | PBLD | c.-59-2504_-59-2503insTTTTTTTTTTTTTTTTTTTTTTT (n.-59-2504_-59-2503insTTTTTTTTTTTTTTTTTTTTTTT) c.-62-2501_-62-2500insTTTTTTTTTTTTTTTTTTTTTTT (n.-62-2501_-62-2500insTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
10 | g.68309426_68309427insAAAAAAAAAAAAAAAAAAAAAAAAAA | CA929538550 | PBLD | c.-59-2504_-59-2503insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-59-2504_-59-2503insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-62-2501_-62-2500insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-62-2501_-62-2500insTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
10 | g.68309426_68309427insAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA929538535 | PBLD | c.-59-2504_-59-2503insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-59-2504_-59-2503insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-62-2501_-62-2500insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-62-2501_-62-2500insTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
10 | g.68309426_68309427insAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA929538387 | PBLD | c.-59-2504_-59-2503insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-59-2504_-59-2503insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-62-2501_-62-2500insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-62-2501_-62-2500insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
10 | g.68309426_68309427insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA929538530 | PBLD | c.-59-2504_-59-2503insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-59-2504_-59-2503insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-62-2501_-62-2500insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-62-2501_-62-2500insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68309426_68309427insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA929538522 | PBLD | c.-59-2504_-59-2503insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-59-2504_-59-2503insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-62-2501_-62-2500insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-62-2501_-62-2500insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
10 | g.68309426_68309427insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA929538510 | PBLD | c.-59-2504_-59-2503insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-59-2504_-59-2503insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-62-2501_-62-2500insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-62-2501_-62-2500insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
10 | g.68309426_68309427insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA929538441 | PBLD | c.-59-2504_-59-2503insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-59-2504_-59-2503insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-62-2501_-62-2500insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-62-2501_-62-2500insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68309426_68309427insAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA | CA929538398 | PBLD | c.-59-2504_-59-2503insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-59-2504_-59-2503insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-62-2501_-62-2500insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-62-2501_-62-2500insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
10 | g.68309426_68309427insAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAA | CA929538400 | PBLD | c.-59-2504_-59-2503insTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-59-2504_-59-2503insTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-62-2501_-62-2500insTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-62-2501_-62-2500insTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
10 | g.68309426_68309427insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA929538443 | PBLD | c.-59-2504_-59-2503insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-59-2504_-59-2503insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-62-2501_-62-2500insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-62-2501_-62-2500insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
10 | g.68309426_68309427insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA929538402 | PBLD | c.-59-2504_-59-2503insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-59-2504_-59-2503insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-62-2501_-62-2500insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-62-2501_-62-2500insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
10 | g.68309426_68309427insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA929538376 | PBLD | c.-59-2504_-59-2503insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-59-2504_-59-2503insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-62-2501_-62-2500insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-62-2501_-62-2500insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
10 | g.68309426_68309427insAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA | CA929538396 | PBLD | c.-59-2504_-59-2503insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-59-2504_-59-2503insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-62-2501_-62-2500insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-62-2501_-62-2500insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
10 | g.68309426_68309427insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA929538380 | PBLD | c.-59-2504_-59-2503insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-59-2504_-59-2503insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-62-2501_-62-2500insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-62-2501_-62-2500insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
10 | g.68309426_68309427insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2588827754 | PBLD | c.-59-2504_-59-2503insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-59-2504_-59-2503insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-62-2501_-62-2500insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-62-2501_-62-2500insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
10 | g.68309426_68309427insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2788382678 | PBLD | c.-59-2504_-59-2503insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-59-2504_-59-2503insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-62-2501_-62-2500insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-62-2501_-62-2500insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | |
10 | g.68309426_68309427insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA929538382 | PBLD | c.-59-2504_-59-2503insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-59-2504_-59-2503insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-62-2501_-62-2500insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-62-2501_-62-2500insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68309426_68309427insAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA | CA929538390 | PBLD | c.-59-2504_-59-2503insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-59-2504_-59-2503insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-62-2501_-62-2500insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-62-2501_-62-2500insTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
10 | g.68309426_68309427insAAAAAAAAAAAAAAAAGAAAAATAAAAAAAAAAAAAAAAAAAAAAAA | CA929538392 | PBLD | c.-59-2504_-59-2503insTTTTATTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-59-2504_-59-2503insTTTTATTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-62-2501_-62-2500insTTTTATTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-62-2501_-62-2500insTTTTATTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
10 | g.68309426dup | CA208215307 | PBLD | c.-59-2504dup (n.-59-2504dup) c.-62-2501dup (n.-62-2501dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.68309425_68309426dup | CA593799311 | PBLD | c.-59-2505_-59-2504dup (n.-59-2505_-59-2504dup) c.-62-2502_-62-2501dup (n.-62-2502_-62-2501dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.68309424_68309426dup | CA929538450 | PBLD | c.-59-2506_-59-2504dup (n.-59-2506_-59-2504dup) c.-62-2503_-62-2501dup (n.-62-2503_-62-2501dup) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68309423_68309426dup | CA929538457 | PBLD | c.-59-2507_-59-2504dup (n.-59-2507_-59-2504dup) c.-62-2504_-62-2501dup (n.-62-2504_-62-2501dup) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68309422_68309426dup | CA929538463 | PBLD | c.-59-2508_-59-2504dup (n.-59-2508_-59-2504dup) c.-62-2505_-62-2501dup (n.-62-2505_-62-2501dup) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68309421_68309426dup | CA929538471 | PBLD | c.-59-2509_-59-2504dup (n.-59-2509_-59-2504dup) c.-62-2506_-62-2501dup (n.-62-2506_-62-2501dup) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68309420_68309426dup | CA929538482 | PBLD | c.-59-2510_-59-2504dup (n.-59-2510_-59-2504dup) c.-62-2507_-62-2501dup (n.-62-2507_-62-2501dup) | gnomAD v3 gnomAD v4 |
10 | g.68309419_68309426dup | CA667837059 | PBLD | c.-59-2511_-59-2504dup (n.-59-2511_-59-2504dup) c.-62-2508_-62-2501dup (n.-62-2508_-62-2501dup) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68309418_68309426dup | CA929538487 | PBLD | c.-59-2512_-59-2504dup (n.-59-2512_-59-2504dup) c.-62-2509_-62-2501dup (n.-62-2509_-62-2501dup) | gnomAD v3 gnomAD v4 |
10 | g.68309416_68309426dup | CA2788382679 | PBLD | c.-59-2514_-59-2504dup (n.-59-2514_-59-2504dup) c.-62-2511_-62-2501dup (n.-62-2511_-62-2501dup) | |
10 | g.68309414_68309426dup | CA929538490 | PBLD | c.-59-2516_-59-2504dup (n.-59-2516_-59-2504dup) c.-62-2513_-62-2501dup (n.-62-2513_-62-2501dup) | gnomAD v3 gnomAD v4 |
10 | g.68309413_68309426dup | CA929538502 | PBLD | c.-59-2517_-59-2504dup (n.-59-2517_-59-2504dup) c.-62-2514_-62-2501dup (n.-62-2514_-62-2501dup) | dbSNP |
10 | g.68309410_68309426dup | CA929538500 | PBLD | c.-59-2520_-59-2504dup (n.-59-2520_-59-2504dup) c.-62-2517_-62-2501dup (n.-62-2517_-62-2501dup) | gnomAD v3 gnomAD v4 |
10 | g.68309409_68309426dup | CA929538555 | PBLD | c.-59-2521_-59-2504dup (n.-59-2521_-59-2504dup) c.-62-2518_-62-2501dup (n.-62-2518_-62-2501dup) | gnomAD v3 gnomAD v4 |
10 | g.68309408_68309426dup | CA929538566 | PBLD | c.-59-2522_-59-2504dup (n.-59-2522_-59-2504dup) c.-62-2519_-62-2501dup (n.-62-2519_-62-2501dup) | gnomAD v3 gnomAD v4 |
10 | g.68309426del | CA593799312 | PBLD | c.-59-2504del (n.-59-2504del) c.-62-2501del (n.-62-2501del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.68309425_68309426del | CA667837069 | PBLD | c.-59-2505_-59-2504del (n.-59-2505_-59-2504del) c.-62-2502_-62-2501del (n.-62-2502_-62-2501del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68309424_68309426del | CA593799313 | PBLD | c.-59-2506_-59-2504del (n.-59-2506_-59-2504del) c.-62-2503_-62-2501del (n.-62-2503_-62-2501del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.68309423_68309426del | CA667837070 | PBLD | c.-59-2507_-59-2504del (n.-59-2507_-59-2504del) c.-62-2504_-62-2501del (n.-62-2504_-62-2501del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68309422_68309426del | CA667837039 | PBLD | c.-59-2508_-59-2504del (n.-59-2508_-59-2504del) c.-62-2505_-62-2501del (n.-62-2505_-62-2501del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68309421_68309426del | CA667837040 | PBLD | c.-59-2509_-59-2504del (n.-59-2509_-59-2504del) c.-62-2506_-62-2501del (n.-62-2506_-62-2501del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68309420_68309426del | CA667837068 | PBLD | c.-59-2510_-59-2504del (n.-59-2510_-59-2504del) c.-62-2507_-62-2501del (n.-62-2507_-62-2501del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68309419_68309426del | CA929538416 | PBLD | c.-59-2511_-59-2504del (n.-59-2511_-59-2504del) c.-62-2508_-62-2501del (n.-62-2508_-62-2501del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68309418_68309426del | CA667837051 | PBLD | c.-59-2512_-59-2504del (n.-59-2512_-59-2504del) c.-62-2509_-62-2501del (n.-62-2509_-62-2501del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68309417_68309426del | CA208215308 | PBLD | c.-59-2513_-59-2504del (n.-59-2513_-59-2504del) c.-62-2510_-62-2501del (n.-62-2510_-62-2501del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.68309416_68309426del | CA667837057 | PBLD | c.-59-2514_-59-2504del (n.-59-2514_-59-2504del) c.-62-2511_-62-2501del (n.-62-2511_-62-2501del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68309415_68309426del | CA929538423 | PBLD | c.-59-2515_-59-2504del (n.-59-2515_-59-2504del) c.-62-2512_-62-2501del (n.-62-2512_-62-2501del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68309409A>C | CA2526370151 | PBLD | c.-59-2506T>G (n.-59-2506T>G) c.-62-2503T>G (n.-62-2503T>G) | |
10 | g.68309409_68309410insGA | CA2546241857 | PBLD | c.-59-2506_-59-2505insCT (n.-59-2506_-59-2505insCT) c.-62-2503_-62-2502insCT (n.-62-2503_-62-2502insCT) | |
10 | g.68309410A>G | CA593799315 | PBLD | c.-59-2507T>C (n.-59-2507T>C) c.-62-2504T>C (n.-62-2504T>C) | gnomAD v2 |
10 | g.68309411A= | CA1917275632 | PBLD | c.-59-2508T= (n.-59-2508T=) c.-62-2505T= (n.-62-2505T=) | |
10 | g.68309411_68309412insC | CA929538580 | PBLD | c.-59-2509_-59-2508insG (n.-59-2509_-59-2508insG) c.-62-2506_-62-2505insG (n.-62-2506_-62-2505insG) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68309412A>G | CA2510683080 | PBLD | c.-59-2509T>C (n.-59-2509T>C) c.-62-2506T>C (n.-62-2506T>C) | |
10 | g.68309413A>G | CA593799317 | PBLD | c.-59-2510T>C (n.-59-2510T>C) c.-62-2507T>C (n.-62-2507T>C) | gnomAD v2 |
10 | g.68309414_68309415insG | CA2788382680 | PBLD | c.-59-2512_-59-2511insC (n.-59-2512_-59-2511insC) c.-62-2509_-62-2508insC (n.-62-2509_-62-2508insC) | |
10 | g.68309415A>G | CA2788382681 | PBLD | c.-59-2512T>C (n.-59-2512T>C) c.-62-2509T>C (n.-62-2509T>C) | |
10 | g.68309415_68309416insT | CA2722306856 | PBLD | c.-59-2513_-59-2512insA (n.-59-2513_-59-2512insA) c.-62-2510_-62-2509insA (n.-62-2510_-62-2509insA) | dbSNP |
10 | g.68309416A= | CA1917275633 | PBLD | c.-59-2513T= (n.-59-2513T=) c.-62-2510T= (n.-62-2510T=) | |
10 | g.68309416A>C | CA1917275634 | PBLD | c.-59-2513T>G (n.-59-2513T>G) c.-62-2510T>G (n.-62-2510T>G) | dbSNP |
10 | g.68309416A>G | CA2788382682 | PBLD | c.-59-2513T>C (n.-59-2513T>C) c.-62-2510T>C (n.-62-2510T>C) | |
10 | g.68309417A= | CA1917275635 | PBLD | c.-59-2514T= (n.-59-2514T=) c.-62-2511T= (n.-62-2511T=) | |
10 | g.68309417A>G | CA1917275636 | PBLD | c.-59-2514T>C (n.-59-2514T>C) c.-62-2511T>C (n.-62-2511T>C) | dbSNP |
10 | g.68309417_68309418insT | CA2528788595 | PBLD | c.-59-2515_-59-2514insA (n.-59-2515_-59-2514insA) c.-62-2512_-62-2511insA (n.-62-2512_-62-2511insA) | |
10 | g.68309421A= | CA1917275639 | PBLD | c.-59-2518T= (n.-59-2518T=) c.-62-2515T= (n.-62-2515T=) | |
10 | g.68309421A>C | CA1917275638 | PBLD | c.-59-2518T>G (n.-59-2518T>G) c.-62-2515T>G (n.-62-2515T>G) | dbSNP |
10 | g.68309421_68309427delinsAAAAAAG | CA1917275637 | PBLD | c.-59-2524_-59-2518delinsCTTTTTT (n.-59-2524_-59-2518delinsCTTTTTT) c.-62-2521_-62-2515delinsCTTTTTT (n.-62-2521_-62-2515delinsCTTTTTT) | |
10 | g.68309422A= | CA1917275640 | PBLD | c.-59-2519T= (n.-59-2519T=) c.-62-2516T= (n.-62-2516T=) | |
10 | g.68309422A>C | CA208215314 | PBLD | c.-59-2519T>G (n.-59-2519T>G) c.-62-2516T>G (n.-62-2516T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.68309424_68309429del | CA667837103 | PBLD | c.-59-2524_-59-2519del (n.-59-2524_-59-2519del) c.-62-2521_-62-2516del (n.-62-2521_-62-2516del) | dbSNP |
10 | g.68309423A= | CA1917275641 | PBLD | c.-59-2520T= (n.-59-2520T=) c.-62-2517T= (n.-62-2517T=) | |
10 | g.68309423A>G | CA593799318 | PBLD | c.-59-2520T>C (n.-59-2520T>C) c.-62-2517T>C (n.-62-2517T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.68309423_68309427delinsAAAAG | CA1917275642 | PBLD | c.-59-2524_-59-2520delinsCTTTT (n.-59-2524_-59-2520delinsCTTTT) c.-62-2521_-62-2517delinsCTTTT (n.-62-2521_-62-2517delinsCTTTT) | |
10 | g.68309424A= | CA1917275644 | PBLD | c.-59-2521T= (n.-59-2521T=) c.-62-2518T= (n.-62-2518T=) | |
10 | g.68309424A>G | CA1917275645 | PBLD | c.-59-2521T>C (n.-59-2521T>C) c.-62-2518T>C (n.-62-2518T>C) | dbSNP |
10 | g.68309424_68309427delinsAAAG | CA1917275643 | PBLD | c.-59-2524_-59-2521delinsCTTT (n.-59-2524_-59-2521delinsCTTT) c.-62-2521_-62-2518delinsCTTT (n.-62-2521_-62-2518delinsCTTT) | |
10 | g.68309426_68309429del | CA929538591 | PBLD | c.-59-2524_-59-2521del (n.-59-2524_-59-2521del) c.-62-2521_-62-2518del (n.-62-2521_-62-2518del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68309425A= | CA1917275648 | PBLD | c.-59-2522T= (n.-59-2522T=) c.-62-2519T= (n.-62-2519T=) | |
10 | g.68309425A>G | CA469803548 | PBLD | c.-59-2522T>C (n.-59-2522T>C) c.-62-2519T>C (n.-62-2519T>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68309426_68309427insAGAA | CA1917275646 | PBLD | c.-59-2522_-59-2521insCTTT (n.-59-2522_-59-2521insCTTT) c.-62-2519_-62-2518insCTTT (n.-62-2519_-62-2518insCTTT) | dbSNP |
10 | g.68309425_68309427delinsAAG | CA1917275647 | PBLD | c.-59-2524_-59-2522delinsCTT (n.-59-2524_-59-2522delinsCTT) c.-62-2521_-62-2519delinsCTT (n.-62-2521_-62-2519delinsCTT) | |
10 | g.68309427_68309429del | CA469803549 | PBLD | c.-59-2524_-59-2522del (n.-59-2524_-59-2522del) c.-62-2521_-62-2519del (n.-62-2521_-62-2519del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68309426_68309427delinsAG | CA1917275649 | PBLD | c.-59-2524_-59-2523delinsCT (n.-59-2524_-59-2523delinsCT) c.-62-2521_-62-2520delinsCT (n.-62-2521_-62-2520delinsCT) | |
10 | g.68309427_68309428del | CA667837104 | PBLD | c.-59-2524_-59-2523del (n.-59-2524_-59-2523del) c.-62-2521_-62-2520del (n.-62-2521_-62-2520del) | dbSNP |
10 | g.68309427del | CA929538599 | PBLD | c.-59-2524del (n.-59-2524del) c.-62-2521del (n.-62-2521del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68309427G>A | CA208215315 | PBLD | c.-59-2524C>T (n.-59-2524C>T) c.-62-2521C>T (n.-62-2521C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.68309427G= | CA1917275650 | PBLD | c.-59-2524C= (n.-59-2524C=) c.-62-2521C= (n.-62-2521C=) | |
10 | g.68309427G>T | CA593799319 | PBLD | c.-59-2524C>A (n.-59-2524C>A) c.-62-2521C>A (n.-62-2521C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.68309428A= | CA1917275651 | PBLD | c.-59-2525T= (n.-59-2525T=) c.-62-2522T= (n.-62-2522T=) | |
10 | g.68309428A>G | CA667837120 | PBLD | c.-59-2525T>C (n.-59-2525T>C) c.-62-2522T>C (n.-62-2522T>C) | dbSNP |
10 | g.68309429A= | CA1917275652 | PBLD | c.-59-2526T= (n.-59-2526T=) c.-62-2523T= (n.-62-2523T=) | |
10 | g.68309429_68309430insACC | CA1917275653 | PBLD | c.-59-2527_-59-2526insGGT (n.-59-2527_-59-2526insGGT) c.-62-2524_-62-2523insGGT (n.-62-2524_-62-2523insGGT) | dbSNP |
10 | g.68309430C>A | CA593799320 | PBLD | c.-59-2527G>T (n.-59-2527G>T) c.-62-2524G>T (n.-62-2524G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.68309430C= | CA1917275654 | PBLD | c.-59-2527G= (n.-59-2527G=) c.-62-2524G= (n.-62-2524G=) | |
10 | g.68309430C>T | CA2548870063 | PBLD | c.-59-2527G>A (n.-59-2527G>A) c.-62-2524G>A (n.-62-2524G>A) | |
10 | g.68309431_68309432del | CA929538605 | PBLD | c.-59-2528_-59-2527del (n.-59-2528_-59-2527del) c.-62-2525_-62-2524del (n.-62-2525_-62-2524del) | gnomAD v3 gnomAD v4 |
10 | g.68309431C>A | CA593799321 | PBLD | c.-59-2528G>T (n.-59-2528G>T) c.-62-2525G>T (n.-62-2525G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.68309431C= | CA1917275656 | PBLD | c.-59-2528G= (n.-59-2528G=) c.-62-2525G= (n.-62-2525G=) | |
10 | g.68309431C>T | CA1917275655 | PBLD | c.-59-2528G>A (n.-59-2528G>A) c.-62-2525G>A (n.-62-2525G>A) | dbSNP |
10 | g.68309432C>A | CA593799323 | PBLD | c.-59-2529G>T (n.-59-2529G>T) c.-62-2526G>T (n.-62-2526G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.68309432C= | CA1917275657 | PBLD | c.-59-2529G= (n.-59-2529G=) c.-62-2526G= (n.-62-2526G=) | |
10 | g.68309433A>C | CA929538624 | PBLD | c.-59-2530T>G (n.-59-2530T>G) c.-62-2527T>G (n.-62-2527T>G) | gnomAD v3 gnomAD v4 |
10 | g.68309434C>A | CA929538632 | PBLD | c.-59-2531G>T (n.-59-2531G>T) c.-62-2528G>T (n.-62-2528G>T) | gnomAD v3 gnomAD v4 |
10 | g.68309434_68309435insAAA | CA929538634 | PBLD | c.-59-2532_-59-2531insTTT (n.-59-2532_-59-2531insTTT) c.-62-2529_-62-2528insTTT (n.-62-2529_-62-2528insTTT) | gnomAD v3 gnomAD v4 |
10 | g.68309435T>C | CA208215317 | PBLD | c.-59-2532A>G (n.-59-2532A>G) c.-62-2529A>G (n.-62-2529A>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68309435T= | CA1917275658 | PBLD | c.-59-2532A= (n.-59-2532A=) c.-62-2529A= (n.-62-2529A=) | |
10 | g.68309437C>T | CA2588827758 | PBLD | c.-59-2534G>A (n.-59-2534G>A) c.-62-2531G>A (n.-62-2531G>A) | gnomAD v3 gnomAD v4 |
10 | g.68309438A>C | CA929538635 | PBLD | c.-59-2535T>G (n.-59-2535T>G) c.-62-2532T>G (n.-62-2532T>G) | gnomAD v3 gnomAD v4 |
10 | g.68309440T>A | CA2588827760 | PBLD | c.-59-2537A>T (n.-59-2537A>T) c.-62-2534A>T (n.-62-2534A>T) | gnomAD v3 gnomAD v4 |
10 | g.68309440T>C | CA929538636 | PBLD | c.-59-2537A>G (n.-59-2537A>G) c.-62-2534A>G (n.-62-2534A>G) | gnomAD v3 gnomAD v4 |
10 | g.68309442T>G | CA208215322 | PBLD | c.-59-2539A>C (n.-59-2539A>C) c.-62-2536A>C (n.-62-2536A>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68309442T= | CA1917275659 | PBLD | c.-59-2539A= (n.-59-2539A=) c.-62-2536A= (n.-62-2536A=) | |
10 | g.68309444G>T | CA929538639 | PBLD | c.-59-2541C>A (n.-59-2541C>A) c.-62-2538C>A (n.-62-2538C>A) | gnomAD v3 gnomAD v4 |
10 | g.68309445C= | CA1917275660 | PBLD | c.-59-2542G= (n.-59-2542G=) c.-62-2539G= (n.-62-2539G=) | |
10 | g.68309445C>T | CA1917275661 | PBLD | c.-59-2542G>A (n.-59-2542G>A) c.-62-2539G>A (n.-62-2539G>A) | dbSNP |
10 | g.68309449T>C | CA1917275662 | PBLD | c.-59-2546A>G (n.-59-2546A>G) c.-62-2543A>G (n.-62-2543A>G) | dbSNP |
10 | g.68309449T= | CA1917275663 | PBLD | c.-59-2546A= (n.-59-2546A=) c.-62-2543A= (n.-62-2543A=) | |
10 | g.68309452C>A | CA929538642 | PBLD | c.-59-2549G>T (n.-59-2549G>T) c.-62-2546G>T (n.-62-2546G>T) | gnomAD v3 gnomAD v4 |
10 | g.68309453T>A | CA1917275665 | PBLD | c.-59-2550A>T (n.-59-2550A>T) c.-62-2547A>T (n.-62-2547A>T) | dbSNP |
10 | g.68309453T= | CA1917275664 | PBLD | c.-59-2550A= (n.-59-2550A=) c.-62-2547A= (n.-62-2547A=) | |
10 | g.68309456T>C | CA1917275667 | PBLD | c.-59-2553A>G (n.-59-2553A>G) c.-62-2550A>G (n.-62-2550A>G) | dbSNP |
10 | g.68309456T= | CA1917275666 | PBLD | c.-59-2553A= (n.-59-2553A=) c.-62-2550A= (n.-62-2550A=) | |
10 | g.68309457_68309465dup | CA1917275668 | PBLD | c.-59-2562_-59-2554dup (n.-59-2562_-59-2554dup) c.-62-2559_-62-2551dup (n.-62-2559_-62-2551dup) | dbSNP |
10 | g.68309459A>C | CA2722306872 | PBLD | c.-59-2556T>G (n.-59-2556T>G) c.-62-2553T>G (n.-62-2553T>G) | dbSNP |
10 | g.68309461C>A | CA929538645 | PBLD | c.-59-2558G>T (n.-59-2558G>T) c.-62-2555G>T (n.-62-2555G>T) | gnomAD v3 gnomAD v4 |
10 | g.68309461C= | CA1917275669 | PBLD | c.-59-2558G= (n.-59-2558G=) c.-62-2555G= (n.-62-2555G=) | |
10 | g.68309461C>T | CA667837137 | PBLD | c.-59-2558G>A (n.-59-2558G>A) c.-62-2555G>A (n.-62-2555G>A) | dbSNP |
10 | g.68309465C= | CA1917275670 | PBLD | c.-59-2562G= (n.-59-2562G=) c.-62-2559G= (n.-62-2559G=) | |
10 | g.68309465C>T | CA208215323 | PBLD | c.-59-2562G>A (n.-59-2562G>A) c.-62-2559G>A (n.-62-2559G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.68309466G>A | CA208215324 | PBLD | c.-59-2563C>T (n.-59-2563C>T) c.-62-2560C>T (n.-62-2560C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.68309466G= | CA1917275671 | PBLD | c.-59-2563C= (n.-59-2563C=) c.-62-2560C= (n.-62-2560C=) | |
10 | g.68309471A= | CA1917275672 | PBLD | c.-59-2568T= (n.-59-2568T=) c.-62-2565T= (n.-62-2565T=) | |
10 | g.68309471A>G | CA929538652 | PBLD | c.-59-2568T>C (n.-59-2568T>C) c.-62-2565T>C (n.-62-2565T>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68309472A= | CA1917275673 | PBLD | c.-59-2569T= (n.-59-2569T=) c.-62-2566T= (n.-62-2566T=) | |
10 | g.68309472A>C | CA929538657 | PBLD | c.-59-2569T>G (n.-59-2569T>G) c.-62-2566T>G (n.-62-2566T>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68309475C= | CA1917275674 | PBLD | c.-59-2572G= (n.-59-2572G=) c.-62-2569G= (n.-62-2569G=) | |
10 | g.68309475C>T | CA208215334 | PBLD | c.-59-2572G>A (n.-59-2572G>A) c.-62-2569G>A (n.-62-2569G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.68309476G>A | CA13354062 | PBLD | c.-59-2573C>T (n.-59-2573C>T) c.-62-2570C>T (n.-62-2570C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.68309476G= | CA1917275675 | PBLD | c.-59-2573C= (n.-59-2573C=) c.-62-2570C= (n.-62-2570C=) | |
10 | g.68309479G>C | CA1917275677 | PBLD | c.-59-2576C>G (n.-59-2576C>G) c.-62-2573C>G (n.-62-2573C>G) | dbSNP |
10 | g.68309479G= | CA1917275676 | PBLD | c.-59-2576C= (n.-59-2576C=) c.-62-2573C= (n.-62-2573C=) | |
10 | g.68309479_68309481delinsGCT | CA1917275678 | PBLD | c.-59-2578_-59-2576delinsAGC (n.-59-2578_-59-2576delinsAGC) c.-62-2575_-62-2573delinsAGC (n.-62-2575_-62-2573delinsAGC) | |
10 | g.68309480C= | CA1917275680 | PBLD | c.-59-2577G= (n.-59-2577G=) c.-62-2574G= (n.-62-2574G=) | |
10 | g.68309480C>T | CA208215348 | PBLD | c.-59-2577G>A (n.-59-2577G>A) c.-62-2574G>A (n.-62-2574G>A) | dbSNP |
10 | g.68309480_68309481del | CA1917275679 | PBLD | c.-59-2578_-59-2577del (n.-59-2578_-59-2577del) c.-62-2575_-62-2574del (n.-62-2575_-62-2574del) | dbSNP |
10 | g.68309483C>T | CA2565177715 | PBLD | c.-59-2580G>A (n.-59-2580G>A) c.-62-2577G>A (n.-62-2577G>A) | |
10 | g.68309484_68309485insA | CA2522444545 | PBLD | c.-59-2582_-59-2581insT (n.-59-2582_-59-2581insT) c.-62-2579_-62-2578insT (n.-62-2579_-62-2578insT) | |
10 | g.68309485C= | CA1917275681 | PBLD | c.-59-2582G= (n.-59-2582G=) c.-62-2579G= (n.-62-2579G=) | |
10 | g.68309485C>T | CA208215354 | PBLD | c.-59-2582G>A (n.-59-2582G>A) c.-62-2579G>A (n.-62-2579G>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68309486A= | CA1917275682 | PBLD | c.-59-2583T= (n.-59-2583T=) c.-62-2580T= (n.-62-2580T=) | |
10 | g.68309486A>G | CA208215394 | PBLD | c.-59-2583T>C (n.-59-2583T>C) c.-62-2580T>C (n.-62-2580T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.68309491T>C | CA593799328 | PBLD | c.-59-2588A>G (n.-59-2588A>G) c.-62-2585A>G (n.-62-2585A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.68309491T= | CA1917275683 | PBLD | c.-59-2588A= (n.-59-2588A=) c.-62-2585A= (n.-62-2585A=) | |
10 | g.68309495T>A | CA1917275685 | PBLD | c.-59-2592A>T (n.-59-2592A>T) c.-62-2589A>T (n.-62-2589A>T) | dbSNP |
10 | g.68309495T= | CA1917275684 | PBLD | c.-59-2592A= (n.-59-2592A=) c.-62-2589A= (n.-62-2589A=) | |
10 | g.68309498C= | CA1917275686 | PBLD | c.-59-2595G= (n.-59-2595G=) c.-62-2592G= (n.-62-2592G=) | |
10 | g.68309498C>T | CA667837151 | PBLD | c.-59-2595G>A (n.-59-2595G>A) c.-62-2592G>A (n.-62-2592G>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.68309499A= | CA1917275687 | PBLD | c.-59-2596T= (n.-59-2596T=) c.-62-2593T= (n.-62-2593T=) | |
10 | g.68309499A>G | CA1917275688 | PBLD | c.-59-2596T>C (n.-59-2596T>C) c.-62-2593T>C (n.-62-2593T>C) | dbSNP |