19 | g.855877_855882delinsGGGACT | CA2317361531 | ELANE | c.598-81_598-76delinsGGGACT (n.598-81_598-76delinsGGGACT)
| |
19 | g.855878G>A | CA2576540521 | ELANE | c.598-80G>A (n.598-80G>A)
| |
19 | g.855878G>C | CA2576540522 | ELANE | c.598-80G>C (n.598-80G>C)
| |
19 | g.855878_855882del | CA884315561 | ELANE | c.598-80_598-76del (n.598-80_598-76del)
| dbSNP gnomAD v4 |
19 | g.855879G>A | CA303945176 | ELANE | c.598-79G>A (n.598-79G>A)
| dbSNP gnomAD v4 |
19 | g.855879G= | CA2317361532 | ELANE | c.598-79G= (n.598-79G=)
| |
19 | g.855880A>G | CA2587805369 | ELANE | c.598-78A>G (n.598-78A>G)
| gnomAD v4 |
19 | g.855881dup | CA2840296529 | ELANE | c.598-77dup (n.598-77dup)
| |
19 | g.855882T>G | CA2813227139 | ELANE | c.598-76T>G (n.598-76T>G)
| |
19 | g.855883T>C | CA884315570 | ELANE | c.598-75T>C (n.598-75T>C)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.855883T>G | CA2587805370 | ELANE | c.598-75T>G (n.598-75T>G)
| gnomAD v4 |
19 | g.855883T= | CA2317361533 | ELANE | c.598-75T= (n.598-75T=)
| |
19 | g.855884C>T | CA2813227140 | ELANE | c.598-74C>T (n.598-74C>T)
| |
19 | g.855884_855894delinsCCCAACCCTGA | CA2317361534 | ELANE | c.598-74_598-64delinsCCCAACCCTGA (n.598-74_598-64delinsCCCAACCCTGA)
| |
19 | g.855885C= | CA2317361535 | ELANE | c.598-73C= (n.598-73C=)
| |
19 | g.855885C>G | CA2317361536 | ELANE | c.598-73C>G (n.598-73C>G)
| dbSNP |
19 | g.855886_855895del | CA2317361537 | ELANE | c.598-72_598-63del (n.598-72_598-63del)
| dbSNP gnomAD v4 |
19 | g.855886C>A | CA2587805371 | ELANE | c.598-72C>A (n.598-72C>A)
| gnomAD v4 |
19 | g.855886C= | CA2317361538 | ELANE | c.598-72C= (n.598-72C=)
| |
19 | g.855886C>G | CA884315572 | ELANE | c.598-72C>G (n.598-72C>G)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.855887A= | CA2317361539 | ELANE | c.598-71A= (n.598-71A=)
| |
19 | g.855887A>C | CA992487398 | ELANE | c.598-71A>C (n.598-71A>C)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.855887A>T | CA2317361540 | ELANE | c.598-71A>T (n.598-71A>T)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.855888A= | CA2317361541 | ELANE | c.598-70A= (n.598-70A=)
| |
19 | g.855888A>C | CA2576540523 | ELANE | c.598-70A>C (n.598-70A>C)
| |
19 | g.855888A>G | CA303945180 | ELANE | c.598-70A>G (n.598-70A>G)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.855889C= | CA2317361542 | ELANE | c.598-69C= (n.598-69C=)
| |
19 | g.855889C>T | CA631295808 | ELANE | c.598-69C>T (n.598-69C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855890C>T | CA2587805372 | ELANE | c.598-68C>T (n.598-68C>T)
| gnomAD v4 |
19 | g.855891C>A | CA2587805373 | ELANE | c.598-67C>A (n.598-67C>A)
| gnomAD v4 |
19 | g.855891_855892insGTTAA | CA2582306276 | ELANE | c.598-67_598-66insGTTAA (n.598-67_598-66insGTTAA)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.855892T>G | CA2317361544 | ELANE | c.598-66T>G (n.598-66T>G)
| dbSNP |
19 | g.855892T= | CA2317361543 | ELANE | c.598-66T= (n.598-66T=)
| |
19 | g.855893G>A | CA2317361546 | ELANE | c.598-65G>A (n.598-65G>A)
| dbSNP gnomAD v4 |
19 | g.855893G= | CA2317361547 | ELANE | c.598-65G= (n.598-65G=)
| |
19 | g.855893G>T | CA2317361545 | ELANE | c.598-65G>T (n.598-65G>T)
| dbSNP gnomAD v4 |
19 | g.855894A= | CA2317361548 | ELANE | c.598-64A= (n.598-64A=)
| |
19 | g.855894A>C | CA2317361549 | ELANE | c.598-64A>C (n.598-64A>C)
| dbSNP gnomAD v4 |
19 | g.855894A>T | CA2317361550 | ELANE | c.598-64A>T (n.598-64A>T)
| dbSNP |
19 | g.855894_855899del | CA2582306277 | ELANE | c.598-64_598-59del (n.598-64_598-59del)
| gnomAD v3 gnomAD v4 |
19 | g.855895C>A | CA2317361552 | ELANE | c.598-63C>A (n.598-63C>A)
| dbSNP |
19 | g.855895C= | CA2317361551 | ELANE | c.598-63C= (n.598-63C=)
| |
19 | g.855895C>G | CA2587805374 | ELANE | c.598-63C>G (n.598-63C>G)
| gnomAD v4 |
19 | g.855897G= | CA2317361553 | ELANE | c.598-61G= (n.598-61G=)
| |
19 | g.855897G>T | CA2317361554 | ELANE | c.598-61G>T (n.598-61G>T)
| dbSNP |
19 | g.855898G>A | CA884315594 | ELANE | c.598-60G>A (n.598-60G>A)
| dbSNP gnomAD v4 |
19 | g.855898G= | CA2317361555 | ELANE | c.598-60G= (n.598-60G=)
| |
19 | g.855898G>T | CA2587805375 | ELANE | c.598-60G>T (n.598-60G>T)
| gnomAD v4 |
19 | g.855899C>A | CA992487399 | ELANE | c.598-59C>A (n.598-59C>A)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.855899C= | CA2317361556 | ELANE | c.598-59C= (n.598-59C=)
| |
19 | g.855899C>G | CA2317361557 | ELANE | c.598-59C>G (n.598-59C>G)
| dbSNP |
19 | g.855899C>T | CA2502360425 | ELANE | c.598-59C>T (n.598-59C>T)
| gnomAD v4 |
19 | g.855900G>A | CA303945182 | ELANE | c.598-58G>A (n.598-58G>A)
| dbSNP gnomAD v4 |
19 | g.855900G>C | CA2576540524 | ELANE | c.598-58G>C (n.598-58G>C)
| gnomAD v4 |
19 | g.855900G= | CA2317361558 | ELANE | c.598-58G= (n.598-58G=)
| |
19 | g.855900G>T | CA2587805376 | ELANE | c.598-58G>T (n.598-58G>T)
| gnomAD v4 |
19 | g.855900_855901insA | CA2582306278 | ELANE | c.598-58_598-57insA (n.598-58_598-57insA)
| gnomAD v3 gnomAD v4 |
19 | g.855902C>A | CA2587805377 | ELANE | c.598-56C>A (n.598-56C>A)
| gnomAD v4 |
19 | g.855902C= | CA2317361559 | ELANE | c.598-56C= (n.598-56C=)
| |
19 | g.855902C>T | CA657480008 | ELANE | c.598-56C>T (n.598-56C>T)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.855903G>A | CA303945184 | ELANE | c.598-55G>A (n.598-55G>A)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.855903G= | CA2317361560 | ELANE | c.598-55G= (n.598-55G=)
| |
19 | g.855903G>T | CA2587805378 | ELANE | c.598-55G>T (n.598-55G>T)
| gnomAD v4 |
19 | g.855904G>A | CA2317361562 | ELANE | c.598-54G>A (n.598-54G>A)
| dbSNP |
19 | g.855904G= | CA2317361561 | ELANE | c.598-54G= (n.598-54G=)
| |
19 | g.855905G>A | CA2587805379 | ELANE | c.598-53G>A (n.598-53G>A)
| gnomAD v4 |
19 | g.855906C>T | CA657480009 | ELANE | c.598-52C>T (n.598-52C>T)
| COSMIC |
19 | g.855907A>G | CA2587805380 | ELANE | c.598-51A>G (n.598-51A>G)
| gnomAD v4 |
19 | g.855908G>A | CA2587805381 | ELANE | c.598-50G>A (n.598-50G>A)
| gnomAD v4 |
19 | g.855909G>A | CA631295809 | ELANE | c.598-49G>A (n.598-49G>A)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855909G= | CA2317361563 | ELANE | c.598-49G= (n.598-49G=)
| |
19 | g.855909G>T | CA303945188 | ELANE | c.598-49G>T (n.598-49G>T)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855911G>C | CA2587805382 | ELANE | c.598-47G>C (n.598-47G>C)
| gnomAD v4 |
19 | g.855912G>A | CA2587805383 | ELANE | c.598-46G>A (n.598-46G>A)
| gnomAD v4 |
19 | g.855912G>T | CA2587805384 | ELANE | c.598-46G>T (n.598-46G>T)
| gnomAD v4 |
19 | g.855913G>A | CA2317361565 | ELANE | c.598-45G>A (n.598-45G>A)
| dbSNP gnomAD v4 |
19 | g.855913G= | CA2317361564 | ELANE | c.598-45G= (n.598-45G=)
| |
19 | g.855913G>T | CA2840296530 | ELANE | c.598-45G>T (n.598-45G>T)
| |
19 | g.855914C= | CA2317361566 | ELANE | c.598-44C= (n.598-44C=)
| |
19 | g.855914C>G | CA303945191 | ELANE | c.598-44C>G (n.598-44C>G)
| dbSNP gnomAD v4 |
19 | g.855914C>T | CA2587805385 | ELANE | c.598-44C>T (n.598-44C>T)
| gnomAD v4 |
19 | g.855915A= | CA2317361567 | ELANE | c.598-43A= (n.598-43A=)
| |
19 | g.855915A>C | CA2317361568 | ELANE | c.598-43A>C (n.598-43A>C)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.855915A>G | CA2840296531 | ELANE | c.598-43A>G (n.598-43A>G)
| |
19 | g.855917G>A | CA884315598 | ELANE | c.598-41G>A (n.598-41G>A)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.855917G= | CA2317361569 | ELANE | c.598-41G= (n.598-41G=)
| |
19 | g.855918G>C | CA2587805386 | ELANE | c.598-40G>C (n.598-40G>C)
| gnomAD v4 |
19 | g.855919C= | CA2317361570 | ELANE | c.598-39C= (n.598-39C=)
| |
19 | g.855919C>T | CA631295810 | ELANE | c.598-39C>T (n.598-39C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855920C>A | CA2840296532 | ELANE | c.598-38C>A (n.598-38C>A)
| |
19 | g.855920C= | CA2317361571 | ELANE | c.598-38C= (n.598-38C=)
| |
19 | g.855920C>G | CA2317361572 | ELANE | c.598-38C>G (n.598-38C>G)
| dbSNP |
19 | g.855920C>T | CA2587805387 | ELANE | c.598-38C>T (n.598-38C>T)
| gnomAD v4 |
19 | g.855921T>A | CA2317361574 | ELANE | c.598-37T>A (n.598-37T>A)
| dbSNP |
19 | g.855921T= | CA2317361573 | ELANE | c.598-37T= (n.598-37T=)
| |
19 | g.855922C= | CA2317361575 | ELANE | c.598-36C= (n.598-36C=)
| |
19 | g.855922C>G | CA9026112 | ELANE | c.598-36C>G (n.598-36C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855922C>T | CA631295811 | ELANE | c.598-36C>T (n.598-36C>T)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855923G>A | CA9026113 | ELANE | c.598-35G>A (n.598-35G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855923G>C | CA2317361577 | ELANE | c.598-35G>C (n.598-35G>C)
| dbSNP gnomAD v4 |
19 | g.855923G= | CA2317361576 | ELANE | c.598-35G= (n.598-35G=)
| |
19 | g.855923G>T | CA2587805388 | ELANE | c.598-35G>T (n.598-35G>T)
| gnomAD v4 |
19 | g.855924C>A | CA9026114 | ELANE | c.598-34C>A (n.598-34C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855924C= | CA2317361578 | ELANE | c.598-34C= (n.598-34C=)
| |
19 | g.855926G>A | CA631295813 | ELANE | c.598-32G>A (n.598-32G>A)
| dbSNP gnomAD v2 |
19 | g.855926G= | CA2317361579 | ELANE | c.598-32G= (n.598-32G=)
| |
19 | g.855926G>T | CA2840296533 | ELANE | c.598-32G>T (n.598-32G>T)
| |
19 | g.855927T>C | CA9026115 | ELANE | c.598-31T>C (n.598-31T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855927T>G | CA992487412 | ELANE | c.598-31T>G (n.598-31T>G)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.855927T= | CA2317361580 | ELANE | c.598-31T= (n.598-31T=)
| |
19 | g.855928C>A | CA2813227143 | ELANE | c.598-30C>A (n.598-30C>A)
| |
19 | g.855928C>G | CA2587805389 | ELANE | c.598-30C>G (n.598-30C>G)
| gnomAD v4 |
19 | g.855928C>T | CA2587805390 | ELANE | c.598-30C>T (n.598-30C>T)
| gnomAD v4 |
19 | g.855929C>T | CA2587805391 | ELANE | c.598-29C>T (n.598-29C>T)
| gnomAD v4 |
19 | g.855930A>G | CA2561095019 | ELANE | c.598-28A>G (n.598-28A>G)
| gnomAD v4 |
19 | g.855931G>A | CA2587805392 | ELANE | c.598-27G>A (n.598-27G>A)
| gnomAD v4 |
19 | g.855931G>C | CA2576540525 | ELANE | c.598-27G>C (n.598-27G>C)
| |
19 | g.855932_855933delinsCT | CA2317361581 | ELANE | c.598-26_598-25delinsCT (n.598-26_598-25delinsCT)
| |
19 | g.855933T>G | CA2587805393 | ELANE | c.598-25T>G (n.598-25T>G)
| gnomAD v4 |
19 | g.855934del | CA2317361582 | ELANE | c.598-24del (n.598-24del)
| dbSNP |
19 | g.855934_855935delinsTC | CA2317361583 | ELANE | c.598-24_598-23delinsTC (n.598-24_598-23delinsTC)
| |
19 | g.855935C>A | CA2576540526 | ELANE | c.598-23C>A (n.598-23C>A)
| |
19 | g.855935C= | CA2317361584 | ELANE | c.598-23C= (n.598-23C=)
| |
19 | g.855935C>G | CA2587805394 | ELANE | c.598-23C>G (n.598-23C>G)
| gnomAD v4 |
19 | g.855935C>T | CA9026116 | ELANE | c.598-23C>T (n.598-23C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855938del | CA884315621 | ELANE | c.598-20del (n.598-20del)
| dbSNP |
19 | g.855936C>A | CA9026117 | ELANE | c.598-22C>A (n.598-22C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855936C= | CA2317361585 | ELANE | c.598-22C= (n.598-22C=)
| |
19 | g.855937C>A | CA2576540527 | ELANE | c.598-21C>A (n.598-21C>A)
| |
19 | g.855937C>G | CA2587805395 | ELANE | c.598-21C>G (n.598-21C>G)
| gnomAD v4 |
19 | g.855937C>T | CA2587805396 | ELANE | c.598-21C>T (n.598-21C>T)
| gnomAD v4 |
19 | g.855939A= | CA2317361586 | ELANE | c.598-19A= (n.598-19A=)
| |
19 | g.855939A>G | CA303945207 | ELANE | c.598-19A>G (n.598-19A>G)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855939_855940delinsAC | CA2317361587 | ELANE | c.598-19_598-18delinsAC (n.598-19_598-18delinsAC)
| |
19 | g.855940C>A | CA2587805397 | ELANE | c.598-18C>A (n.598-18C>A)
| gnomAD v4 |
19 | g.855941del | CA2317361588 | ELANE | c.598-17del (n.598-17del)
| ClinVar dbSNP gnomAD v4 |
19 | g.855941C>A | CA2587805398 | ELANE | c.598-17C>A (n.598-17C>A)
| gnomAD v4 |
19 | g.855941C>T | CA2576540528 | ELANE | c.598-17C>T (n.598-17C>T)
| gnomAD v4 |
19 | g.855943T>G | CA631295814 | ELANE | c.598-15T>G (n.598-15T>G)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855943T= | CA2317361589 | ELANE | c.598-15T= (n.598-15T=)
| |
19 | g.855944G>C | CA2587805399 | ELANE | c.598-14G>C (n.598-14G>C)
| gnomAD v4 |
19 | g.855944G>T | CA2587805400 | ELANE | c.598-14G>T (n.598-14G>T)
| gnomAD v4 |
19 | g.855945T>C | CA631295815 | ELANE | c.598-13T>C (n.598-13T>C)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855945T= | CA2317361590 | ELANE | c.598-13T= (n.598-13T=)
| |
19 | g.855948G>A | CA303945209 | ELANE | c.598-10G>A (n.598-10G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855948G= | CA2317361591 | ELANE | c.598-10G= (n.598-10G=)
| |
19 | g.855948G>T | CA2587805401 | ELANE | c.598-10G>T (n.598-10G>T)
| gnomAD v4 |
19 | g.855950dup | CA2587805402 | ELANE | c.598-8dup (n.598-8dup)
| gnomAD v4 |
19 | g.855950C= | CA2317361592 | ELANE | c.598-8C= (n.598-8C=)
| |
19 | g.855950C>T | CA9026118 | ELANE | c.598-8C>T (n.598-8C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855952C>T | CA2576540529 | ELANE | c.598-6C>T (n.598-6C>T)
| |
19 | g.855953C= | CA2317361593 | ELANE | c.598-5C= (n.598-5C=)
| |
19 | g.855953C>T | CA631295816 | ELANE | c.598-5C>T (n.598-5C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855954A= | CA2317361594 | ELANE | c.598-4A= (n.598-4A=)
| |
19 | g.855954A>G | CA915951613 | ELANE | c.598-4A>G (n.598-4A>G)
| ClinVar dbSNP |
19 | g.855955C= | CA2317361595 | ELANE | c.598-3C= (n.598-3C=)
| |
19 | g.855955C>G | CA346328 | ELANE | c.598-3C>G (n.598-3C>G)
| ClinVar dbSNP |
19 | g.855956A= | CA2317361596 | ELANE | c.598-2A= (n.598-2A=)
| |
19 | g.855956A>C | CA16040333 | ELANE | c.598-2A>C (n.598-2A>C)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855956A>G | CA402918839 | ELANE | c.598-2A>G (n.598-2A>G)
| gnomAD v4 |
19 | g.855956A>T | CA402918841 | ELANE | c.598-2A>T (n.598-2A>T)
| |
19 | g.855956_855957del | CA2695227810 | ELANE | c.598-2_598-1del (n.598-2_598-1del)
| |
19 | g.855957G>A | CA10577118 | ELANE | c.598-1G>A (n.598-1G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.855957G>C | CA402918844 | ELANE | c.598-1G>C (n.598-1G>C)
| |
19 | g.855957G= | CA2317361597 | ELANE | c.598-1G= (n.598-1G=)
| |
19 | g.855957G>T | CA402918845 | ELANE | c.598-1G>T (n.598-1G>T)
| |
19 | g.855960_855961dup | CA16043100 | ELANE | c.600_601dup
| ClinVar dbSNP |
19 | g.855961del | CA2695227811 | ELANE | c.601del
| |
19 | g.855958G>A | CA402918847 | ELANE | c.598G>A (p.Gly200Arg)
| |
19 | g.855958G>C | CA402918848 | ELANE | c.598G>C (p.Gly200Arg)
| |
19 | g.855958G= | CA2317361598 | ELANE | c.598G= (p.Gly200=)
| |
19 | g.855958G>T | CA9026119 | ELANE | c.598G>T (p.Gly200Trp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855959G>A | CA402918850 | ELANE | c.599G>A (p.Gly200Glu)
| gnomAD v4 |
19 | g.855959G>C | CA402918853 | ELANE | c.599G>C (p.Gly200Ala)
| |
19 | g.855959G>T | CA402918851 | ELANE | c.599G>T (p.Gly200Val)
| |
19 | g.855961_855968dup | CA2695227812 | ELANE | c.601_608dup (p.Ser204ThrfsTer11)
| |
19 | g.855960G>A | CA9026120 | ELANE | c.600G>A (p.Gly200=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855960G>C | CA504686289 | ELANE | c.600G>C (p.Gly200=)
| |
19 | g.855960G= | CA2317361599 | ELANE | c.600G= (p.Gly200=)
| |
19 | g.855960G>T | CA504686291 | ELANE | c.600G>T (p.Gly200=)
| |
19 | g.855960_855961delinsAA | CA645613904 | ELANE | c.600_601delinsAA (p.Asp201Asn)
| COSMIC |
19 | g.855962_855968del | CA2695227813 | ELANE | c.602_608del (p.Asp201AlafsTer9)
| |
19 | g.855961G>A | CA402918855 | ELANE | c.601G>A (p.Asp201Asn)
| gnomAD v4 |
19 | g.855961G>C | CA402918857 | ELANE | c.601G>C (p.Asp201His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855961G= | CA2317361600 | ELANE | c.601G= (p.Asp201=)
| |
19 | g.855961G>T | CA402918858 | ELANE | c.601G>T (p.Asp201Tyr)
| dbSNP gnomAD v4 |
19 | g.855961_855962delinsGA | CA2317361601 | ELANE | c.601_602delinsGA (p.Asp201=)
| |
19 | g.855962del | CA1139770400 | ELANE | c.602del (p.Asp201AlafsTer11)
| ClinVar dbSNP |
19 | g.855962A>C | CA402918859 | ELANE | c.602A>C (p.Asp201Ala)
| gnomAD v4 |
19 | g.855962A>G | CA402918861 | ELANE | c.602A>G (p.Asp201Gly)
| |
19 | g.855962A>T | CA402918862 | ELANE | c.602A>T (p.Asp201Val)
| gnomAD v4 |
19 | g.855963C>A | CA402918864 | ELANE | c.603C>A (p.Asp201Glu)
| |
19 | g.855963C>G | CA402918865 | ELANE | c.603C>G (p.Asp201Glu)
| |
19 | g.855963C>T | CA504686306 | ELANE | c.603C>T (p.Asp201=)
| |
19 | g.855964T>A | CA402918869 | ELANE | c.604T>A (p.Ser202Thr)
| |
19 | g.855964T>C | CA402918871 | ELANE | c.604T>C (p.Ser202Pro)
| |
19 | g.855964T>G | CA402918867 | ELANE | c.604T>G (p.Ser202Ala)
| |
19 | g.855965C>A | CA402918872 | ELANE | c.605C>A (p.Ser202Tyr)
| |
19 | g.855965C= | CA2317361602 | ELANE | c.605C= (p.Ser202=)
| |
19 | g.855965C>G | CA402918873 | ELANE | c.605C>G (p.Ser202Cys)
| |
19 | g.855965C>T | CA10583965 | ELANE | c.605C>T (p.Ser202Phe)
| ClinVar dbSNP gnomAD v4 |
19 | g.855966C>A | CA290722 | ELANE | c.606C>A (p.Ser202=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855966C= | CA2317361603 | ELANE | c.606C= (p.Ser202=)
| |
19 | g.855966C>G | CA504686320 | ELANE | c.606C>G (p.Ser202=)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855966C>T | CA290725 | ELANE | c.606C>T (p.Ser202=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855967G>A | CA303945234 | ELANE | c.607G>A (p.Gly203Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855967G>C | CA402918877 | ELANE | c.607G>C (p.Gly203Arg)
| ClinVar dbSNP |
19 | g.855967G= | CA2317361604 | ELANE | c.607G= (p.Gly203=)
| |
19 | g.855967G>T | CA402918878 | ELANE | c.607G>T (p.Gly203Cys)
| ClinVar dbSNP |
19 | g.855968G>A | CA402918879 | ELANE | c.608G>A (p.Gly203Asp)
| |
19 | g.855968G>C | CA402918881 | ELANE | c.608G>C (p.Gly203Ala)
| |
19 | g.855968G>T | CA402918883 | ELANE | c.608G>T (p.Gly203Val)
| |
19 | g.855969C>A | CA504686342 | ELANE | c.609C>A (p.Gly203=)
| |
19 | g.855969C>G | CA504686340 | ELANE | c.609C>G (p.Gly203=)
| |
19 | g.855969C>T | CA504686337 | ELANE | c.609C>T (p.Gly203=)
| |
19 | g.855970A>C | CA402918885 | ELANE | c.610A>C (p.Ser204Arg)
| |
19 | g.855970A>G | CA402918887 | ELANE | c.610A>G (p.Ser204Gly)
| gnomAD v4 |
19 | g.855970A>T | CA402918884 | ELANE | c.610A>T (p.Ser204Cys)
| |
19 | g.855971G>A | CA402918889 | ELANE | c.611G>A (p.Ser204Asn)
| COSMIC |
19 | g.855971G>C | CA402918890 | ELANE | c.611G>C (p.Ser204Thr)
| |
19 | g.855971G>T | CA402918892 | ELANE | c.611G>T (p.Ser204Ile)
| |
19 | g.855972C>A | CA402918894 | ELANE | c.612C>A (p.Ser204Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.855972C= | CA2317361605 | ELANE | c.612C= (p.Ser204=)
| |
19 | g.855972C>G | CA402918896 | ELANE | c.612C>G (p.Ser204Arg)
| |
19 | g.855972C>T | CA9026121 | ELANE | c.612C>T (p.Ser204=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855975del | CA2695227814 | ELANE | c.615del (p.Leu206TrpfsTer6)
| |
19 | g.855973C>A | CA402918897 | ELANE | c.613C>A (p.Pro205Thr)
| |
19 | g.855973C= | CA2317361606 | ELANE | c.613C= (p.Pro205=)
| |
19 | g.855973C>G | CA402918901 | ELANE | c.613C>G (p.Pro205Ala)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855973C>T | CA402918898 | ELANE | c.613C>T (p.Pro205Ser)
| |
19 | g.855974C>A | CA402918903 | ELANE | c.614C>A (p.Pro205His)
| |
19 | g.855974C= | CA2317361607 | ELANE | c.614C= (p.Pro205=)
| |
19 | g.855974C>G | CA402918904 | ELANE | c.614C>G (p.Pro205Arg)
| ClinVar dbSNP |
19 | g.855974C>T | CA402918906 | ELANE | c.614C>T (p.Pro205Leu)
| |
19 | g.855975C>A | CA504686369 | ELANE | c.615C>A (p.Pro205=)
| |
19 | g.855975C>G | CA504686371 | ELANE | c.615C>G (p.Pro205=)
| |
19 | g.855975C>T | CA504686372 | ELANE | c.615C>T (p.Pro205=)
| gnomAD v4 |
19 | g.855975_855978del | CA2695227815 | ELANE | c.615_618del (p.Leu206SerfsTer5)
| |
19 | g.855976T>A | CA402918908 | ELANE | c.616T>A (p.Leu206Met)
| |
19 | g.855976T>C | CA504686378 | ELANE | c.616T>C (p.Leu206=)
| gnomAD v4 |
19 | g.855976T>G | CA402918910 | ELANE | c.616T>G (p.Leu206Val)
| |
19 | g.855977T>A | CA402918914 | ELANE | c.617T>A (p.Leu206Ter)
| |
19 | g.855977T>C | CA402918915 | ELANE | c.617T>C (p.Leu206Ser)
| |
19 | g.855977T>G | CA402918912 | ELANE | c.617T>G (p.Leu206Trp)
| |
19 | g.855978G>A | CA504686387 | ELANE | c.618G>A (p.Leu206=)
| ClinVar |
19 | g.855978G>C | CA402918918 | ELANE | c.618G>C (p.Leu206Phe)
| ClinVar dbSNP |
19 | g.855978G= | CA2317361608 | ELANE | c.618G= (p.Leu206=)
| |
19 | g.855978G>T | CA281046 | ELANE | c.618G>T (p.Leu206Phe)
| ClinVar dbSNP |