2 | g.235052475_235052511delinsTCCTGCGCCGTCTGCTGGAATTCTGCGGGGAGCAGAG | CA1336501514 | SH3BP4 | c.2479-87_2479-51delinsTCCTGCGCCGTCTGCTGGAATTCTGCGGGGAGCAGAG (n.2479-87_2479-51delinsTCCTGCGCCGTCTGCTGGAATTCTGCGGGGAGCAGAG)
| |
2 | g.235052481_235052516del | CA766410861 | SH3BP4 | c.2479-81_2479-46del (n.2479-81_2479-46del)
| dbSNP gnomAD v4 |
2 | g.235052492G>A | CA2663754323 | SH3BP4 | c.2479-70G>A (n.2479-70G>A)
| gnomAD v4 |
2 | g.235052492G>T | CA2663754324 | SH3BP4 | c.2479-70G>T (n.2479-70G>T)
| gnomAD v4 |
2 | g.235052493A>G | CA2663754325 | SH3BP4 | c.2479-69A>G (n.2479-69A>G)
| gnomAD v4 |
2 | g.235052493A>T | CA2663754326 | SH3BP4 | c.2479-69A>T (n.2479-69A>T)
| gnomAD v4 |
2 | g.235052497C>A | CA2663754327 | SH3BP4 | c.2479-65C>A (n.2479-65C>A)
| gnomAD v4 |
2 | g.235052497C= | CA1336501524 | SH3BP4 | c.2479-65C= (n.2479-65C=)
| |
2 | g.235052497C>G | CA2663754328 | SH3BP4 | c.2479-65C>G (n.2479-65C>G)
| gnomAD v4 |
2 | g.235052497C>T | CA540444710 | SH3BP4 | c.2479-65C>T (n.2479-65C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.235052498T>C | CA2577384619 | SH3BP4 | c.2479-64T>C (n.2479-64T>C)
| |
2 | g.235052499G>A | CA1043639747 | SH3BP4 | c.2479-63G>A (n.2479-63G>A)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.235052499G= | CA1336501525 | SH3BP4 | c.2479-63G= (n.2479-63G=)
| |
2 | g.235052499G>T | CA2663754329 | SH3BP4 | c.2479-63G>T (n.2479-63G>T)
| gnomAD v4 |
2 | g.235052500del | CA2663754330 | SH3BP4 | c.2479-62del (n.2479-62del)
| gnomAD v4 |
2 | g.235052500C>A | CA2663754331 | SH3BP4 | c.2479-62C>A (n.2479-62C>A)
| gnomAD v4 |
2 | g.235052500C= | CA1336501526 | SH3BP4 | c.2479-62C= (n.2479-62C=)
| |
2 | g.235052500C>T | CA67671609 | SH3BP4 | c.2479-62C>T (n.2479-62C>T)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.235052501G>A | CA766410880 | SH3BP4 | c.2479-61G>A (n.2479-61G>A)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.235052501G>C | CA1043639753 | SH3BP4 | c.2479-61G>C (n.2479-61G>C)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.235052501G= | CA1336501527 | SH3BP4 | c.2479-61G= (n.2479-61G=)
| |
2 | g.235052501G>T | CA2577384620 | SH3BP4 | c.2479-61G>T (n.2479-61G>T)
| gnomAD v4 |
2 | g.235052504del | CA2663754332 | SH3BP4 | c.2479-58del (n.2479-58del)
| gnomAD v4 |
2 | g.235052502G>A | CA2577384621 | SH3BP4 | c.2479-60G>A (n.2479-60G>A)
| gnomAD v4 |
2 | g.235052502G>T | CA2577384622 | SH3BP4 | c.2479-60G>T (n.2479-60G>T)
| gnomAD v4 |
2 | g.235052503G>A | CA2577384623 | SH3BP4 | c.2479-59G>A (n.2479-59G>A)
| gnomAD v4 |
2 | g.235052503G>C | CA67671613 | SH3BP4 | c.2479-59G>C (n.2479-59G>C)
| dbSNP gnomAD v4 |
2 | g.235052503G= | CA1336501528 | SH3BP4 | c.2479-59G= (n.2479-59G=)
| |
2 | g.235052503G>T | CA2663754333 | SH3BP4 | c.2479-59G>T (n.2479-59G>T)
| gnomAD v4 |
2 | g.235052504G>A | CA2663754334 | SH3BP4 | c.2479-58G>A (n.2479-58G>A)
| gnomAD v4 |
2 | g.235052504G>T | CA2663754335 | SH3BP4 | c.2479-58G>T (n.2479-58G>T)
| gnomAD v4 |
2 | g.235052506G>A | CA2551236590 | SH3BP4 | c.2479-56G>A (n.2479-56G>A)
| gnomAD v4 |
2 | g.235052506G>T | CA2663754336 | SH3BP4 | c.2479-56G>T (n.2479-56G>T)
| dbSNP gnomAD v4 |
2 | g.235052507C>A | CA2663754337 | SH3BP4 | c.2479-55C>A (n.2479-55C>A)
| gnomAD v4 |
2 | g.235052507C>T | CA2663754338 | SH3BP4 | c.2479-55C>T (n.2479-55C>T)
| gnomAD v4 |
2 | g.235052508A= | CA1336501529 | SH3BP4 | c.2479-54A= (n.2479-54A=)
| |
2 | g.235052508A>C | CA2663754340 | SH3BP4 | c.2479-54A>C (n.2479-54A>C)
| gnomAD v4 |
2 | g.235052508A>T | CA1336501530 | SH3BP4 | c.2479-54A>T (n.2479-54A>T)
| dbSNP |
2 | g.235052508_235052522del | CA2663754339 | SH3BP4 | c.2479-54_2479-40del (n.2479-54_2479-40del)
| gnomAD v4 |
2 | g.235052509G>T | CA2663754341 | SH3BP4 | c.2479-53G>T (n.2479-53G>T)
| gnomAD v4 |
2 | g.235052511G>A | CA2663754342 | SH3BP4 | c.2479-51G>A (n.2479-51G>A)
| gnomAD v4 |
2 | g.235052511G>T | CA2663754343 | SH3BP4 | c.2479-51G>T (n.2479-51G>T)
| gnomAD v4 |
2 | g.235052512C>A | CA540444711 | SH3BP4 | c.2479-50C>A (n.2479-50C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.235052512C= | CA1336501531 | SH3BP4 | c.2479-50C= (n.2479-50C=)
| |
2 | g.235052512C>G | CA2663754344 | SH3BP4 | c.2479-50C>G (n.2479-50C>G)
| gnomAD v4 |
2 | g.235052512C>T | CA2663754345 | SH3BP4 | c.2479-50C>T (n.2479-50C>T)
| gnomAD v4 |
2 | g.235052513C>A | CA2663754346 | SH3BP4 | c.2479-49C>A (n.2479-49C>A)
| gnomAD v4 |
2 | g.235052513C>G | CA2663754347 | SH3BP4 | c.2479-49C>G (n.2479-49C>G)
| gnomAD v4 |
2 | g.235052514T>C | CA2663754348 | SH3BP4 | c.2479-48T>C (n.2479-48T>C)
| gnomAD v4 |
2 | g.235052515G>A | CA2577384624 | SH3BP4 | c.2479-47G>A (n.2479-47G>A)
| gnomAD v4 |
2 | g.235052515G>T | CA2663754349 | SH3BP4 | c.2479-47G>T (n.2479-47G>T)
| dbSNP gnomAD v4 |
2 | g.235052516C>A | CA540444712 | SH3BP4 | c.2479-46C>A (n.2479-46C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.235052516C= | CA1336501532 | SH3BP4 | c.2479-46C= (n.2479-46C=)
| |
2 | g.235052516C>T | CA2663754351 | SH3BP4 | c.2479-46C>T (n.2479-46C>T)
| gnomAD v4 |
2 | g.235052519del | CA2663754350 | SH3BP4 | c.2479-43del (n.2479-43del)
| gnomAD v4 |
2 | g.235052517C>A | CA2663754352 | SH3BP4 | c.2479-45C>A (n.2479-45C>A)
| gnomAD v4 |
2 | g.235052517C>T | CA2577384625 | SH3BP4 | c.2479-45C>T (n.2479-45C>T)
| gnomAD v4 |
2 | g.235052518C>A | CA540444714 | SH3BP4 | c.2479-44C>A (n.2479-44C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.235052518C= | CA1336501533 | SH3BP4 | c.2479-44C= (n.2479-44C=)
| |
2 | g.235052518C>T | CA540444713 | SH3BP4 | c.2479-44C>T (n.2479-44C>T)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.235052519C>A | CA2663754353 | SH3BP4 | c.2479-43C>A (n.2479-43C>A)
| gnomAD v4 |
2 | g.235052519C= | CA1336501534 | SH3BP4 | c.2479-43C= (n.2479-43C=)
| |
2 | g.235052519C>T | CA540444715 | SH3BP4 | c.2479-43C>T (n.2479-43C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.235052520A>T | CA2663754354 | SH3BP4 | c.2479-42A>T (n.2479-42A>T)
| gnomAD v4 |
2 | g.235052521C>A | CA2663754356 | SH3BP4 | c.2479-41C>A (n.2479-41C>A)
| gnomAD v4 |
2 | g.235052521C>T | CA2663754355 | SH3BP4 | c.2479-41C>T (n.2479-41C>T)
| gnomAD v4 |
2 | g.235052522T>A | CA2577384626 | SH3BP4 | c.2479-40T>A (n.2479-40T>A)
| |
2 | g.235052522T>C | CA2663754357 | SH3BP4 | c.2479-40T>C (n.2479-40T>C)
| gnomAD v4 |
2 | g.235052523C>A | CA2663754359 | SH3BP4 | c.2479-39C>A (n.2479-39C>A)
| gnomAD v4 |
2 | g.235052523C= | CA1336501535 | SH3BP4 | c.2479-39C= (n.2479-39C=)
| |
2 | g.235052523C>G | CA540444716 | SH3BP4 | c.2479-39C>G (n.2479-39C>G)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.235052523C>T | CA1336501536 | SH3BP4 | c.2479-39C>T (n.2479-39C>T)
| dbSNP gnomAD v4 |
2 | g.235052525del | CA2663754360 | SH3BP4 | c.2479-37del (n.2479-37del)
| gnomAD v4 |
2 | g.235052524_235052525del | CA2663754358 | SH3BP4 | c.2479-38_2479-37del (n.2479-38_2479-37del)
| gnomAD v4 |
2 | g.235052525C>A | CA2663754361 | SH3BP4 | c.2479-37C>A (n.2479-37C>A)
| gnomAD v4 |
2 | g.235052526del | CA2663754362 | SH3BP4 | c.2479-36del (n.2479-36del)
| gnomAD v4 |
2 | g.235052526T>C | CA2663754363 | SH3BP4 | c.2479-36T>C (n.2479-36T>C)
| gnomAD v4 |
2 | g.235052527del | CA2663754364 | SH3BP4 | c.2479-35del (n.2479-35del)
| gnomAD v4 |
2 | g.235052527A= | CA1336501537 | SH3BP4 | c.2479-35A= (n.2479-35A=)
| |
2 | g.235052527A>G | CA2184010 | SH3BP4 | c.2479-35A>G (n.2479-35A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.235052528C>A | CA2663754365 | SH3BP4 | c.2479-34C>A (n.2479-34C>A)
| gnomAD v4 |
2 | g.235052528C= | CA1336501538 | SH3BP4 | c.2479-34C= (n.2479-34C=)
| |
2 | g.235052528C>T | CA540444717 | SH3BP4 | c.2479-34C>T (n.2479-34C>T)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.235052529A= | CA1336501539 | SH3BP4 | c.2479-33A= (n.2479-33A=)
| |
2 | g.235052529A>G | CA540444718 | SH3BP4 | c.2479-33A>G (n.2479-33A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.235052530C>A | CA2663754366 | SH3BP4 | c.2479-32C>A (n.2479-32C>A)
| gnomAD v4 |
2 | g.235052530C= | CA1336501540 | SH3BP4 | c.2479-32C= (n.2479-32C=)
| |
2 | g.235052530C>T | CA540444719 | SH3BP4 | c.2479-32C>T (n.2479-32C>T)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.235052531T>C | CA2663754368 | SH3BP4 | c.2479-31T>C (n.2479-31T>C)
| gnomAD v4 |
2 | g.235052532G>T | CA2663754369 | SH3BP4 | c.2479-30G>T (n.2479-30G>T)
| gnomAD v4 |
2 | g.235052533T>A | CA1336501542 | SH3BP4 | c.2479-29T>A (n.2479-29T>A)
| dbSNP |
2 | g.235052533T>C | CA2663754370 | SH3BP4 | c.2479-29T>C (n.2479-29T>C)
| gnomAD v4 |
2 | g.235052533T= | CA1336501541 | SH3BP4 | c.2479-29T= (n.2479-29T=)
| |
2 | g.235052534C>A | CA2663754371 | SH3BP4 | c.2479-28C>A (n.2479-28C>A)
| gnomAD v4 |
2 | g.235052534C= | CA1336501543 | SH3BP4 | c.2479-28C= (n.2479-28C=)
| |
2 | g.235052534C>T | CA1043639760 | SH3BP4 | c.2479-28C>T (n.2479-28C>T)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.235052536C>A | CA2663754372 | SH3BP4 | c.2479-26C>A (n.2479-26C>A)
| gnomAD v4 |
2 | g.235052536C>G | CA2663754373 | SH3BP4 | c.2479-26C>G (n.2479-26C>G)
| dbSNP gnomAD v4 |
2 | g.235052536C>T | CA2663754374 | SH3BP4 | c.2479-26C>T (n.2479-26C>T)
| gnomAD v4 |
2 | g.235052537A>G | CA2663754375 | SH3BP4 | c.2479-25A>G (n.2479-25A>G)
| gnomAD v4 |
2 | g.235052538C= | CA1336501544 | SH3BP4 | c.2479-24C= (n.2479-24C=)
| |
2 | g.235052538C>G | CA540444721 | SH3BP4 | c.2479-24C>G (n.2479-24C>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.235052538C>T | CA540444720 | SH3BP4 | c.2479-24C>T (n.2479-24C>T)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.235052539G>A | CA2184012 | SH3BP4 | c.2479-23G>A (n.2479-23G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.235052539G= | CA1336501545 | SH3BP4 | c.2479-23G= (n.2479-23G=)
| |
2 | g.235052539G>T | CA2184011 | SH3BP4 | c.2479-23G>T (n.2479-23G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.235052540C>A | CA2663754376 | SH3BP4 | c.2479-22C>A (n.2479-22C>A)
| gnomAD v4 |
2 | g.235052541T>C | CA2663754377 | SH3BP4 | c.2479-21T>C (n.2479-21T>C)
| gnomAD v4 |
2 | g.235052541T>G | CA766410901 | SH3BP4 | c.2479-21T>G (n.2479-21T>G)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.235052541T= | CA1336501546 | SH3BP4 | c.2479-21T= (n.2479-21T=)
| |
2 | g.235052542G>A | CA766410904 | SH3BP4 | c.2479-20G>A (n.2479-20G>A)
| dbSNP |
2 | g.235052542G= | CA1336501547 | SH3BP4 | c.2479-20G= (n.2479-20G=)
| |
2 | g.235052542G>T | CA2663754378 | SH3BP4 | c.2479-20G>T (n.2479-20G>T)
| gnomAD v4 |
2 | g.235052544G>A | CA540444722 | SH3BP4 | c.2479-18G>A (n.2479-18G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.235052544G= | CA1336501548 | SH3BP4 | c.2479-18G= (n.2479-18G=)
| |
2 | g.235052546G>A | CA2577384627 | SH3BP4 | c.2479-16G>A (n.2479-16G>A)
| gnomAD v4 |
2 | g.235052546G>T | CA2663754379 | SH3BP4 | c.2479-16G>T (n.2479-16G>T)
| gnomAD v4 |
2 | g.235052547C>A | CA2663754380 | SH3BP4 | c.2479-15C>A (n.2479-15C>A)
| gnomAD v4 |
2 | g.235052547C>T | CA2663754381 | SH3BP4 | c.2479-15C>T (n.2479-15C>T)
| gnomAD v4 |
2 | g.235052548C= | CA1336501549 | SH3BP4 | c.2479-14C= (n.2479-14C=)
| |
2 | g.235052548C>G | CA540444723 | SH3BP4 | c.2479-14C>G (n.2479-14C>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.235052548C>T | CA2663754382 | SH3BP4 | c.2479-14C>T (n.2479-14C>T)
| gnomAD v4 |
2 | g.235052551T>A | CA2754728198 | SH3BP4 | c.2479-11T>A (n.2479-11T>A)
| |
2 | g.235052554_235052556del | CA2663754383 | SH3BP4 | c.2479-8_2479-6del (n.2479-8_2479-6del)
| gnomAD v4 |
2 | g.235052553C= | CA1336501550 | SH3BP4 | c.2479-9C= (n.2479-9C=)
| |
2 | g.235052553C>T | CA1336501551 | SH3BP4 | c.2479-9C>T (n.2479-9C>T)
| dbSNP |
2 | g.235052554C>A | CA2663754384 | SH3BP4 | c.2479-8C>A (n.2479-8C>A)
| gnomAD v4 |
2 | g.235052554C>T | CA2663754385 | SH3BP4 | c.2479-8C>T (n.2479-8C>T)
| gnomAD v4 |
2 | g.235052555T>C | CA2663754386 | SH3BP4 | c.2479-7T>C (n.2479-7T>C)
| gnomAD v4 |
2 | g.235052556C>A | CA2663754387 | SH3BP4 | c.2479-6C>A (n.2479-6C>A)
| gnomAD v4 |
2 | g.235052556C= | CA1336501552 | SH3BP4 | c.2479-6C= (n.2479-6C=)
| |
2 | g.235052556C>T | CA1336501553 | SH3BP4 | c.2479-6C>T (n.2479-6C>T)
| dbSNP gnomAD v4 |
2 | g.235052558G>A | CA2184013 | SH3BP4 | c.2479-4G>A (n.2479-4G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.235052558G= | CA1336501554 | SH3BP4 | c.2479-4G= (n.2479-4G=)
| |
2 | g.235052558G>T | CA2663754388 | SH3BP4 | c.2479-4G>T (n.2479-4G>T)
| gnomAD v4 |
2 | g.235052559C>A | CA540444724 | SH3BP4 | c.2479-3C>A (n.2479-3C>A)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.235052559C= | CA1336501555 | SH3BP4 | c.2479-3C= (n.2479-3C=)
| |
2 | g.235052559C>T | CA2663754390 | SH3BP4 | c.2479-3C>T (n.2479-3C>T)
| gnomAD v4 |
2 | g.235052560A>C | CA351164762 | SH3BP4 | c.2479-2A>C (n.2479-2A>C)
| |
2 | g.235052560A>G | CA351164763 | SH3BP4 | c.2479-2A>G (n.2479-2A>G)
| |
2 | g.235052560A>T | CA351164764 | SH3BP4 | c.2479-2A>T (n.2479-2A>T)
| gnomAD v4 |
2 | g.235052561G>A | CA351164765 | SH3BP4 | c.2479-1G>A (n.2479-1G>A)
| |
2 | g.235052561G>C | CA351164766 | SH3BP4 | c.2479-1G>C (n.2479-1G>C)
| |
2 | g.235052561G= | CA1336501556 | SH3BP4 | c.2479-1G= (n.2479-1G=)
| |
2 | g.235052561G>T | CA351164767 | SH3BP4 | c.2479-1G>T (n.2479-1G>T)
| dbSNP gnomAD v2 |
2 | g.235052562G>A | CA351164768 | SH3BP4 | c.2479G>A (p.Ala827Thr)
| gnomAD v4 |
2 | g.235052562G>C | CA351164769 | SH3BP4 | c.2479G>C (p.Ala827Pro)
| |
2 | g.235052562G>T | CA351164770 | SH3BP4 | c.2479G>T (p.Ala827Ser)
| |
2 | g.235052563C>A | CA351164771 | SH3BP4 | c.2480C>A (p.Ala827Asp)
| gnomAD v4 |
2 | g.235052563C>G | CA351164773 | SH3BP4 | c.2480C>G (p.Ala827Gly)
| |
2 | g.235052563C>T | CA351164772 | SH3BP4 | c.2480C>T (p.Ala827Val)
| gnomAD v4 |
2 | g.235052565del | CA2754728199 | SH3BP4 | c.2482del (p.Leu828TyrfsTer2)
| |
2 | g.235052564C>A | CA431875737 | SH3BP4 | c.2481C>A (p.Ala827=)
| gnomAD v4 |
2 | g.235052564C= | CA1336501557 | SH3BP4 | c.2481C= (p.Ala827=)
| |
2 | g.235052564C>G | CA431875738 | SH3BP4 | c.2481C>G (p.Ala827=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.235052564C>T | CA431875739 | SH3BP4 | c.2481C>T (p.Ala827=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.235052565C>A | CA351164774 | SH3BP4 | c.2482C>A (p.Leu828Ile)
| gnomAD v4 |
2 | g.235052565C= | CA1336501558 | SH3BP4 | c.2482C= (p.Leu828=)
| |
2 | g.235052565C>G | CA351164775 | SH3BP4 | c.2482C>G (p.Leu828Val)
| |
2 | g.235052565C>T | CA2184014 | SH3BP4 | c.2482C>T (p.Leu828=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.235052566T>A | CA351164776 | SH3BP4 | c.2483T>A (p.Leu828Gln)
| |
2 | g.235052566T>C | CA351164778 | SH3BP4 | c.2483T>C (p.Leu828Pro)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.235052566T>G | CA351164777 | SH3BP4 | c.2483T>G (p.Leu828Arg)
| |
2 | g.235052566T= | CA1336501559 | SH3BP4 | c.2483T= (p.Leu828=)
| |
2 | g.235052567A= | CA1336501560 | SH3BP4 | c.2484A= (p.Leu828=)
| |
2 | g.235052567A>C | CA431875741 | SH3BP4 | c.2484A>C (p.Leu828=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.235052567A>G | CA431875742 | SH3BP4 | c.2484A>G (p.Leu828=)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.235052567A>T | CA431875740 | SH3BP4 | c.2484A>T (p.Leu828=)
| |
2 | g.235052568C>A | CA351164779 | SH3BP4 | c.2485C>A (p.Leu829Met)
| |
2 | g.235052568C>G | CA351164780 | SH3BP4 | c.2485C>G (p.Leu829Val)
| |
2 | g.235052568C>T | CA431875743 | SH3BP4 | c.2485C>T (p.Leu829=)
| |
2 | g.235052569T>A | CA351164781 | SH3BP4 | c.2486T>A (p.Leu829Gln)
| |
2 | g.235052569T>C | CA351164782 | SH3BP4 | c.2486T>C (p.Leu829Pro)
| |
2 | g.235052569T>G | CA351164783 | SH3BP4 | c.2486T>G (p.Leu829Arg)
| |
2 | g.235052570G>A | CA431875745 | SH3BP4 | c.2487G>A (p.Leu829=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.235052570G>C | CA431875744 | SH3BP4 | c.2487G>C (p.Leu829=)
| |
2 | g.235052570G= | CA1336501561 | SH3BP4 | c.2487G= (p.Leu829=)
| |
2 | g.235052570G>T | CA431875746 | SH3BP4 | c.2487G>T (p.Leu829=)
| gnomAD v4 |
2 | g.235052571A= | CA1336501562 | SH3BP4 | c.2488A= (p.Lys830=)
| |
2 | g.235052571A>C | CA351164784 | SH3BP4 | c.2488A>C (p.Lys830Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.235052571A>G | CA351164785 | SH3BP4 | c.2488A>G (p.Lys830Glu)
| |
2 | g.235052571A>T | CA351164786 | SH3BP4 | c.2488A>T (p.Lys830Ter)
| |
2 | g.235052572del | CA2663754392 | SH3BP4 | c.2489del (p.Lys830ArgfsTer18)
| gnomAD v4 |
2 | g.235052572A>C | CA351164787 | SH3BP4 | c.2489A>C (p.Lys830Thr)
| |
2 | g.235052572A>G | CA351164788 | SH3BP4 | c.2489A>G (p.Lys830Arg)
| gnomAD v4 |
2 | g.235052572A>T | CA351164789 | SH3BP4 | c.2489A>T (p.Lys830Met)
| |
2 | g.235052573G>A | CA431875747 | SH3BP4 | c.2490G>A (p.Lys830=)
| |
2 | g.235052573G>C | CA351164790 | SH3BP4 | c.2490G>C (p.Lys830Asn)
| |
2 | g.235052573G>T | CA351164791 | SH3BP4 | c.2490G>T (p.Lys830Asn)
| gnomAD v4 |
2 | g.235052574A>C | CA351164794 | SH3BP4 | c.2491A>C (p.Met831Leu)
| |
2 | g.235052574A>G | CA351164792 | SH3BP4 | c.2491A>G (p.Met831Val)
| gnomAD v4 |
2 | g.235052574A>T | CA351164793 | SH3BP4 | c.2491A>T (p.Met831Leu)
| gnomAD v4 |
2 | g.235052575T>A | CA351164795 | SH3BP4 | c.2492T>A (p.Met831Lys)
| |
2 | g.235052575T>C | CA351164796 | SH3BP4 | c.2492T>C (p.Met831Thr)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.235052575T>G | CA351164797 | SH3BP4 | c.2492T>G (p.Met831Arg)
| |
2 | g.235052575T= | CA1336501563 | SH3BP4 | c.2492T= (p.Met831=)
| |
2 | g.235052576G>A | CA351164798 | SH3BP4 | c.2493G>A (p.Met831Ile)
| dbSNP gnomAD v4 |
2 | g.235052576G>C | CA351164799 | SH3BP4 | c.2493G>C (p.Met831Ile)
| |
2 | g.235052576G= | CA1336501564 | SH3BP4 | c.2493G= (p.Met831=)
| |
2 | g.235052576G>T | CA351164800 | SH3BP4 | c.2493G>T (p.Met831Ile)
| gnomAD v4 |
2 | g.235052577G>A | CA351164801 | SH3BP4 | c.2494G>A (p.Asp832Asn)
| dbSNP gnomAD v4 |
2 | g.235052577G>C | CA351164802 | SH3BP4 | c.2494G>C (p.Asp832His)
| |
2 | g.235052577G= | CA1336501565 | SH3BP4 | c.2494G= (p.Asp832=)
| |
2 | g.235052577G>T | CA351164803 | SH3BP4 | c.2494G>T (p.Asp832Tyr)
| |
2 | g.235052578A>C | CA351164804 | SH3BP4 | c.2495A>C (p.Asp832Ala)
| |
2 | g.235052578A>G | CA351164805 | SH3BP4 | c.2495A>G (p.Asp832Gly)
| |
2 | g.235052578A>T | CA351164806 | SH3BP4 | c.2495A>T (p.Asp832Val)
| |
2 | g.235052579C>A | CA351164807 | SH3BP4 | c.2496C>A (p.Asp832Glu)
| |
2 | g.235052579C= | CA1336501566 | SH3BP4 | c.2496C= (p.Asp832=)
| |
2 | g.235052579C>G | CA351164808 | SH3BP4 | c.2496C>G (p.Asp832Glu)
| |
2 | g.235052579C>T | CA431875748 | SH3BP4 | c.2496C>T (p.Asp832=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.235052580T>A | CA351164809 | SH3BP4 | c.2497T>A (p.Cys833Ser)
| |
2 | g.235052580T>C | CA351164810 | SH3BP4 | c.2497T>C (p.Cys833Arg)
| |
2 | g.235052580T>G | CA351164811 | SH3BP4 | c.2497T>G (p.Cys833Gly)
| |
2 | g.235052581G>A | CA351164812 | SH3BP4 | c.2498G>A (p.Cys833Tyr)
| gnomAD v4 COSMIC |
2 | g.235052581G>C | CA351164813 | SH3BP4 | c.2498G>C (p.Cys833Ser)
| |
2 | g.235052581G>T | CA351164814 | SH3BP4 | c.2498G>T (p.Cys833Phe)
| gnomAD v4 |
2 | g.235052582C>A | CA351164815 | SH3BP4 | c.2499C>A (p.Cys833Ter)
| |
2 | g.235052582C>G | CA351164816 | SH3BP4 | c.2499C>G (p.Cys833Trp)
| |
2 | g.235052582C>T | CA431875749 | SH3BP4 | c.2499C>T (p.Cys833=)
| gnomAD v4 |
2 | g.235052583C>A | CA351164817 | SH3BP4 | c.2500C>A (p.Gln834Lys)
| |
2 | g.235052583C= | CA1336501567 | SH3BP4 | c.2500C= (p.Gln834=)
| |
2 | g.235052583C>G | CA351164818 | SH3BP4 | c.2500C>G (p.Gln834Glu)
| |
2 | g.235052583C>T | CA351164819 | SH3BP4 | c.2500C>T (p.Gln834Ter)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.235052584A>C | CA351164820 | SH3BP4 | c.2501A>C (p.Gln834Pro)
| |
2 | g.235052584A>G | CA351164821 | SH3BP4 | c.2501A>G (p.Gln834Arg)
| gnomAD v4 |
2 | g.235052584A>T | CA351164822 | SH3BP4 | c.2501A>T (p.Gln834Leu)
| gnomAD v4 |
2 | g.235052585G>A | CA431875750 | SH3BP4 | c.2502G>A (p.Gln834=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.235052585G>C | CA351164823 | SH3BP4 | c.2502G>C (p.Gln834His)
| |
2 | g.235052585G= | CA1336501568 | SH3BP4 | c.2502G= (p.Gln834=)
| |
2 | g.235052585G>T | CA351164824 | SH3BP4 | c.2502G>T (p.Gln834His)
| |
2 | g.235052587del | CA2663754393 | SH3BP4 | c.2504del (p.Gly835AlafsTer13)
| gnomAD v4 |
2 | g.235052586G>A | CA351164825 | SH3BP4 | c.2503G>A (p.Gly835Ser)
| dbSNP gnomAD v2 |
2 | g.235052586G>C | CA351164826 | SH3BP4 | c.2503G>C (p.Gly835Arg)
| |
2 | g.235052586G= | CA1336501569 | SH3BP4 | c.2503G= (p.Gly835=)
| |
2 | g.235052586G>T | CA351164827 | SH3BP4 | c.2503G>T (p.Gly835Cys)
| gnomAD v4 |
2 | g.235052587G>A | CA351164828 | SH3BP4 | c.2504G>A (p.Gly835Asp)
| |
2 | g.235052587G>C | CA351164829 | SH3BP4 | c.2504G>C (p.Gly835Ala)
| |
2 | g.235052587G>T | CA351164830 | SH3BP4 | c.2504G>T (p.Gly835Val)
| gnomAD v4 |
2 | g.235052588C>A | CA431875751 | SH3BP4 | c.2505C>A (p.Gly835=)
| |
2 | g.235052588C>G | CA431875752 | SH3BP4 | c.2505C>G (p.Gly835=)
| |
2 | g.235052588C>T | CA431875753 | SH3BP4 | c.2505C>T (p.Gly835=)
| gnomAD v4 |
2 | g.235052589C>A | CA351164831 | SH3BP4 | c.2506C>A (p.Leu836Met)
| |
2 | g.235052589C>G | CA351164832 | SH3BP4 | c.2506C>G (p.Leu836Val)
| |
2 | g.235052589C>T | CA431875754 | SH3BP4 | c.2506C>T (p.Leu836=)
| |
2 | g.235052590T>A | CA351164833 | SH3BP4 | c.2507T>A (p.Leu836Gln)
| |
2 | g.235052590T>C | CA351164834 | SH3BP4 | c.2507T>C (p.Leu836Pro)
| gnomAD v4 |
2 | g.235052590T>G | CA351164835 | SH3BP4 | c.2507T>G (p.Leu836Arg)
| |
2 | g.235052591G>A | CA2184015 | SH3BP4 | c.2508G>A (p.Leu836=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.235052591G>C | CA431875756 | SH3BP4 | c.2508G>C (p.Leu836=)
| gnomAD v4 |
2 | g.235052591G= | CA1336501570 | SH3BP4 | c.2508G= (p.Leu836=)
| |
2 | g.235052591G>T | CA431875755 | SH3BP4 | c.2508G>T (p.Leu836=)
| gnomAD v4 |
2 | g.235052592G>A | CA351164838 | SH3BP4 | c.2509G>A (p.Val837Met)
| gnomAD v4 |
2 | g.235052592G>C | CA351164836 | SH3BP4 | c.2509G>C (p.Val837Leu)
| |
2 | g.235052592G>T | CA351164837 | SH3BP4 | c.2509G>T (p.Val837Leu)
| gnomAD v4 |