17 | g.80108206C>A | CA2581285024 | GAA | c.956-84C>A (n.956-84C>A)
| gnomAD v4 |
17 | g.80108206C= | CA2277812610 | GAA | c.956-84C= (n.956-84C=)
| |
17 | g.80108206C>G | CA2581285025 | GAA | c.956-84C>G (n.956-84C>G)
| |
17 | g.80108206C>T | CA14478725 | GAA | c.956-84C>T (n.956-84C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108207G>A | CA294891612 | GAA | c.956-83G>A (n.956-83G>A)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108207G>C | CA2277812612 | GAA | c.956-83G>C (n.956-83G>C)
| dbSNP gnomAD v4 |
17 | g.80108207G= | CA2277812611 | GAA | c.956-83G= (n.956-83G=)
| |
17 | g.80108208C>A | CA2640285407 | GAA | c.956-82C>A (n.956-82C>A)
| gnomAD v4 |
17 | g.80108209C>A | CA2640285410 | GAA | c.956-81C>A (n.956-81C>A)
| gnomAD v4 |
17 | g.80108209C= | CA2277812613 | GAA | c.956-81C= (n.956-81C=)
| |
17 | g.80108209C>T | CA294891616 | GAA | c.956-81C>T (n.956-81C>T)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108213G>A | CA2640285414 | GAA | c.956-77G>A (n.956-77G>A)
| gnomAD v4 |
17 | g.80108215T>C | CA2734101627 | GAA | c.956-75T>C (n.956-75T>C)
| dbSNP |
17 | g.80108217G= | CA2277812614 | GAA | c.956-73G= (n.956-73G=)
| |
17 | g.80108217G>T | CA294891629 | GAA | c.956-73G>T (n.956-73G>T)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108218G= | CA2277812615 | GAA | c.956-72G= (n.956-72G=)
| |
17 | g.80108218G>T | CA294891640 | GAA | c.956-72G>T (n.956-72G>T)
| dbSNP gnomAD v4 |
17 | g.80108219C>A | CA2640285422 | GAA | c.956-71C>A (n.956-71C>A)
| gnomAD v4 |
17 | g.80108219C>T | CA2640285423 | GAA | c.956-71C>T (n.956-71C>T)
| gnomAD v4 |
17 | g.80108221C>A | CA2576414007 | GAA | c.956-69C>A (n.956-69C>A)
| |
17 | g.80108222A= | CA2277812616 | GAA | c.956-68A= (n.956-68A=)
| |
17 | g.80108222A>G | CA986705593 | GAA | c.956-68A>G (n.956-68A>G)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108222A>T | CA775511927 | GAA | c.956-68A>T (n.956-68A>T)
| dbSNP gnomAD v4 |
17 | g.80108224C= | CA2277812617 | GAA | c.956-66C= (n.956-66C=)
| |
17 | g.80108224C>G | CA2277812618 | GAA | c.956-66C>G (n.956-66C>G)
| dbSNP gnomAD v4 |
17 | g.80108225T>C | CA2640285431 | GAA | c.956-65T>C (n.956-65T>C)
| gnomAD v4 |
17 | g.80108226G>A | CA294891646 | GAA | c.956-64G>A (n.956-64G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108226G>C | CA2640285434 | GAA | c.956-64G>C (n.956-64G>C)
| gnomAD v4 |
17 | g.80108226G= | CA2277812619 | GAA | c.956-64G= (n.956-64G=)
| |
17 | g.80108226G>T | CA2640285436 | GAA | c.956-64G>T (n.956-64G>T)
| gnomAD v4 |
17 | g.80108227_80108228delinsTG | CA2277812620 | GAA | c.956-63_956-62delinsTG (n.956-63_956-62delinsTG)
| |
17 | g.80108228G>T | CA2810576451 | GAA | c.956-62G>T (n.956-62G>T)
| |
17 | g.80108231del | CA2277812621 | GAA | c.956-59del (n.956-59del)
| dbSNP |
17 | g.80108229G>T | CA2640285437 | GAA | c.956-61G>T (n.956-61G>T)
| gnomAD v4 |
17 | g.80108230G>A | CA2518499918 | GAA | c.956-60G>A (n.956-60G>A)
| gnomAD v4 |
17 | g.80108231G>A | CA775511929 | GAA | c.956-59G>A (n.956-59G>A)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108231G>C | CA2576414008 | GAA | c.956-59G>C (n.956-59G>C)
| |
17 | g.80108231G= | CA2277812622 | GAA | c.956-59G= (n.956-59G=)
| |
17 | g.80108231G>T | CA294891651 | GAA | c.956-59G>T (n.956-59G>T)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108232T>C | CA2576414009 | GAA | c.956-58T>C (n.956-58T>C)
| |
17 | g.80108233G>A | CA2277812624 | GAA | c.956-57G>A (n.956-57G>A)
| dbSNP gnomAD v4 |
17 | g.80108233G= | CA2277812623 | GAA | c.956-57G= (n.956-57G=)
| |
17 | g.80108233G>T | CA2640285446 | GAA | c.956-57G>T (n.956-57G>T)
| gnomAD v4 |
17 | g.80108234C>A | CA2640285448 | GAA | c.956-56C>A (n.956-56C>A)
| gnomAD v4 |
17 | g.80108234C>T | CA2640285449 | GAA | c.956-56C>T (n.956-56C>T)
| gnomAD v4 |
17 | g.80108235A>G | CA2576414010 | GAA | c.956-55A>G (n.956-55A>G)
| gnomAD v4 |
17 | g.80108236G>A | CA294891657 | GAA | c.956-54G>A (n.956-54G>A)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108236G>C | CA294891659 | GAA | c.956-54G>C (n.956-54G>C)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108236G= | CA2277812625 | GAA | c.956-54G= (n.956-54G=)
| |
17 | g.80108237A= | CA2277812626 | GAA | c.956-53A= (n.956-53A=)
| |
17 | g.80108237A>C | CA2733952936 | GAA | c.956-53A>C (n.956-53A>C)
| dbSNP |
17 | g.80108237A>G | CA627699080 | GAA | c.956-53A>G (n.956-53A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108239C>A | CA2640285455 | GAA | c.956-51C>A (n.956-51C>A)
| gnomAD v4 |
17 | g.80108240C= | CA2277812627 | GAA | c.956-50C= (n.956-50C=)
| |
17 | g.80108240C>T | CA986705599 | GAA | c.956-50C>T (n.956-50C>T)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108241C= | CA2277812628 | GAA | c.956-49C= (n.956-49C=)
| |
17 | g.80108241C>T | CA627699081 | GAA | c.956-49C>T (n.956-49C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108243C= | CA2277812629 | GAA | c.956-47C= (n.956-47C=)
| |
17 | g.80108243C>G | CA627699082 | GAA | c.956-47C>G (n.956-47C>G)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108245A= | CA2277812630 | GAA | c.956-45A= (n.956-45A=)
| |
17 | g.80108245A>G | CA294891660 | GAA | c.956-45A>G (n.956-45A>G)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108246A= | CA2277812631 | GAA | c.956-44A= (n.956-44A=)
| |
17 | g.80108246A>G | CA627699083 | GAA | c.956-44A>G (n.956-44A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108248T>C | CA294891662 | GAA | c.956-42T>C (n.956-42T>C)
| dbSNP gnomAD v4 |
17 | g.80108248T= | CA2277812632 | GAA | c.956-42T= (n.956-42T=)
| |
17 | g.80108254A= | CA2277812633 | GAA | c.956-36A= (n.956-36A=)
| |
17 | g.80108254A>G | CA2277812634 | GAA | c.956-36A>G (n.956-36A>G)
| dbSNP gnomAD v4 |
17 | g.80108255T>A | CA2640285465 | GAA | c.956-35T>A (n.956-35T>A)
| gnomAD v4 |
17 | g.80108258G>A | CA2640285467 | GAA | c.956-32G>A (n.956-32G>A)
| gnomAD v4 |
17 | g.80108259T>C | CA8815115 | GAA | c.956-31T>C (n.956-31T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108259T= | CA2277812635 | GAA | c.956-31T= (n.956-31T=)
| |
17 | g.80108260C>T | CA2734101630 | GAA | c.956-30C>T (n.956-30C>T)
| dbSNP |
17 | g.80108261C>A | CA2640285475 | GAA | c.956-29C>A (n.956-29C>A)
| gnomAD v4 |
17 | g.80108261C>T | CA2640285474 | GAA | c.956-29C>T (n.956-29C>T)
| gnomAD v4 |
17 | g.80108262C= | CA2277812636 | GAA | c.956-28C= (n.956-28C=)
| |
17 | g.80108262C>T | CA8815116 | GAA | c.956-28C>T (n.956-28C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108263C= | CA2277812637 | GAA | c.956-27C= (n.956-27C=)
| |
17 | g.80108263C>G | CA775511953 | GAA | c.956-27C>G (n.956-27C>G)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108263C>T | CA2640285478 | GAA | c.956-27C>T (n.956-27C>T)
| gnomAD v4 |
17 | g.80108264C>A | CA2576414011 | GAA | c.956-26C>A (n.956-26C>A)
| |
17 | g.80108264C>G | CA2640285480 | GAA | c.956-26C>G (n.956-26C>G)
| gnomAD v4 |
17 | g.80108265A>G | CA2576414012 | GAA | c.956-25A>G (n.956-25A>G)
| gnomAD v4 |
17 | g.80108266A= | CA2277812638 | GAA | c.956-24A= (n.956-24A=)
| |
17 | g.80108266A>G | CA775511954 | GAA | c.956-24A>G (n.956-24A>G)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108267C>A | CA2640285482 | GAA | c.956-23C>A (n.956-23C>A)
| gnomAD v4 |
17 | g.80108267C= | CA2277812639 | GAA | c.956-23C= (n.956-23C=)
| |
17 | g.80108267C>T | CA775511955 | GAA | c.956-23C>T (n.956-23C>T)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108269_80108280delinsCCAGAGCTGCTT | CA2277812640 | GAA | c.956-21_956-10delinsCCAGAGCTGCTT (n.956-21_956-10delinsCCAGAGCTGCTT)
| |
17 | g.80108270C>T | CA2640285483 | GAA | c.956-20C>T (n.956-20C>T)
| gnomAD v4 |
17 | g.80108271_80108281del | CA2277812641 | GAA | c.956-19_956-9del (n.956-19_956-9del)
| dbSNP |
17 | g.80108272G>C | CA2640285486 | GAA | c.956-18G>C (n.956-18G>C)
| gnomAD v4 |
17 | g.80108273A= | CA2277812642 | GAA | c.956-17A= (n.956-17A=)
| |
17 | g.80108273A>T | CA2277812643 | GAA | c.956-17A>T (n.956-17A>T)
| ClinVar dbSNP gnomAD v4 |
17 | g.80108276T>A | CA2640285488 | GAA | c.956-14T>A (n.956-14T>A)
| gnomAD v4 |
17 | g.80108276T>G | CA2640285489 | GAA | c.956-14T>G (n.956-14T>G)
| gnomAD v4 |
17 | g.80108277G>T | CA2697555242 | GAA | c.956-13G>T (n.956-13G>T)
| ClinVar |
17 | g.80108278C= | CA2277812644 | GAA | c.956-12C= (n.956-12C=)
| |
17 | g.80108278C>T | CA8815117 | GAA | c.956-12C>T (n.956-12C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108279T>C | CA2573154948 | GAA | c.956-11T>C (n.956-11T>C)
| ClinVar dbSNP gnomAD v4 |
17 | g.80108281C>T | CA2576414013 | GAA | c.956-9C>T (n.956-9C>T)
| |
17 | g.80108282C>A | CA294891689 | GAA | c.956-8C>A (n.956-8C>A)
| ClinVar dbSNP |
17 | g.80108282C= | CA2277812645 | GAA | c.956-8C= (n.956-8C=)
| |
17 | g.80108282C>T | CA2573154949 | GAA | c.956-8C>T (n.956-8C>T)
| ClinVar dbSNP |
17 | g.80108283C= | CA2277812646 | GAA | c.956-7C= (n.956-7C=)
| |
17 | g.80108283C>G | CA986705609 | GAA | c.956-7C>G (n.956-7C>G)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108283C>T | CA2277812648 | GAA | c.956-7C>T (n.956-7C>T)
| dbSNP |
17 | g.80108283_80108290delinsCTTCCAGA | CA2277812647 | GAA | c.956-7_956delinsCTTCCAGA
| |
17 | g.80108285_80108291del | CA2277812649 | GAA | c.956-5_957del
| ClinVar dbSNP |
17 | g.80108285_80108286delinsTC | CA2277812650 | GAA | c.956-5_956-4delinsTC (n.956-5_956-4delinsTC)
| |
17 | g.80108286C>T | CA2573154950 | GAA | c.956-4C>T (n.956-4C>T)
| ClinVar dbSNP gnomAD v4 |
17 | g.80108287del | CA2277812651 | GAA | c.956-3del (n.956-3del)
| dbSNP |
17 | g.80108287C= | CA2277812652 | GAA | c.956-3C= (n.956-3C=)
| |
17 | g.80108287C>T | CA627699086 | GAA | c.956-3C>T (n.956-3C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108288A= | CA2277812653 | GAA | c.956-2A= (n.956-2A=)
| |
17 | g.80108288A>C | CA401364349 | GAA | c.956-2A>C (n.956-2A>C)
| |
17 | g.80108288A>G | CA401364351 | GAA | c.956-2A>G (n.956-2A>G)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108288A>T | CA401364353 | GAA | c.956-2A>T (n.956-2A>T)
| |
17 | g.80108289G>A | CA401364356 | GAA | c.956-1G>A (n.956-1G>A)
| |
17 | g.80108289G>C | CA401364358 | GAA | c.956-1G>C (n.956-1G>C)
| |
17 | g.80108289G>T | CA401364360 | GAA | c.956-1G>T (n.956-1G>T)
| |
17 | g.80108290A>C | CA401364362 | GAA | c.956A>C (p.Asp319Ala)
| |
17 | g.80108290A>G | CA401364363 | GAA | c.956A>G (p.Asp319Gly)
| ClinVar gnomAD v4 |
17 | g.80108290A>T | CA401364365 | GAA | c.956A>T (p.Asp319Val)
| gnomAD v4 |
17 | g.80108290_80108296del | CA2695227072 | GAA | c.956_962del (p.Asp319AlafsTer?)
| |
17 | g.80108291T>A | CA401364367 | GAA | c.957T>A (p.Asp319Glu)
| |
17 | g.80108291T>C | CA502178163 | GAA | c.957T>C (p.Asp319=)
| gnomAD v4 |
17 | g.80108291T>G | CA401364369 | GAA | c.957T>G (p.Asp319Glu)
| |
17 | g.80108292del | CA2640285516 | GAA | c.958del (p.Val320TrpfsTer?)
| gnomAD v4 |
17 | g.80108292G>A | CA294891694 | GAA | c.958G>A (p.Val320Met)
| dbSNP |
17 | g.80108292G>C | CA401364373 | GAA | c.958G>C (p.Val320Leu)
| |
17 | g.80108292G= | CA2277812654 | GAA | c.958G= (p.Val320=)
| |
17 | g.80108292G>T | CA401364371 | GAA | c.958G>T (p.Val320Leu)
| |
17 | g.80108292_80108293delinsAG | CA2580095299 | GAA | c.958_959delinsAG (p.Val320Arg)
| ClinVar |
17 | g.80108293T>A | CA401364374 | GAA | c.959T>A (p.Val320Glu)
| |
17 | g.80108293T>C | CA401364376 | GAA | c.959T>C (p.Val320Ala)
| |
17 | g.80108293T>G | CA401364378 | GAA | c.959T>G (p.Val320Gly)
| |
17 | g.80108294G>A | CA502178170 | GAA | c.960G>A (p.Val320=)
| ClinVar dbSNP |
17 | g.80108294G>C | CA502178171 | GAA | c.960G>C (p.Val320=)
| |
17 | g.80108294G>T | CA502178173 | GAA | c.960G>T (p.Val320=)
| |
17 | g.80108295G>A | CA294891725 | GAA | c.961G>A (p.Val321Ile)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108295G>C | CA401364380 | GAA | c.961G>C (p.Val321Leu)
| |
17 | g.80108295G= | CA2277812655 | GAA | c.961G= (p.Val321=)
| |
17 | g.80108295G>T | CA401364382 | GAA | c.961G>T (p.Val321Phe)
| ClinVar dbSNP gnomAD v4 |
17 | g.80108296T>A | CA401364386 | GAA | c.962T>A (p.Val321Asp)
| |
17 | g.80108296T>C | CA401364384 | GAA | c.962T>C (p.Val321Ala)
| dbSNP gnomAD v4 |
17 | g.80108296T>G | CA401364385 | GAA | c.962T>G (p.Val321Gly)
| |
17 | g.80108296T= | CA2277812656 | GAA | c.962T= (p.Val321=)
| |
17 | g.80108297C>A | CA502178179 | GAA | c.963C>A (p.Val321=)
| |
17 | g.80108297C>G | CA502178180 | GAA | c.963C>G (p.Val321=)
| |
17 | g.80108297C>T | CA502178182 | GAA | c.963C>T (p.Val321=)
| |
17 | g.80108298C>A | CA401364388 | GAA | c.964C>A (p.Leu322Met)
| |
17 | g.80108298C= | CA2277812657 | GAA | c.964C= (p.Leu322=)
| |
17 | g.80108298C>G | CA401364390 | GAA | c.964C>G (p.Leu322Val)
| gnomAD v4 |
17 | g.80108298C>T | CA502178184 | GAA | c.964C>T (p.Leu322=)
| dbSNP |
17 | g.80108299T>A | CA401364392 | GAA | c.965T>A (p.Leu322Gln)
| |
17 | g.80108299T>C | CA401364394 | GAA | c.965T>C (p.Leu322Pro)
| |
17 | g.80108299T>G | CA401364396 | GAA | c.965T>G (p.Leu322Arg)
| |
17 | g.80108300G>A | CA502178190 | GAA | c.966G>A (p.Leu322=)
| ClinVar dbSNP gnomAD v2 |
17 | g.80108300G>C | CA502178191 | GAA | c.966G>C (p.Leu322=)
| |
17 | g.80108300G= | CA2277812658 | GAA | c.966G= (p.Leu322=)
| |
17 | g.80108300G>T | CA502178193 | GAA | c.966G>T (p.Leu322=)
| |
17 | g.80108301C>A | CA401364401 | GAA | c.967C>A (p.Gln323Lys)
| |
17 | g.80108301C>G | CA401364398 | GAA | c.967C>G (p.Gln323Glu)
| |
17 | g.80108301C>T | CA401364399 | GAA | c.967C>T (p.Gln323Ter)
| ClinVar |
17 | g.80108302A>C | CA401364403 | GAA | c.968A>C (p.Gln323Pro)
| |
17 | g.80108302A>G | CA401364405 | GAA | c.968A>G (p.Gln323Arg)
| |
17 | g.80108302A>T | CA401364406 | GAA | c.968A>T (p.Gln323Leu)
| |
17 | g.80108303G>A | CA502178194 | GAA | c.969G>A (p.Gln323=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108303G>C | CA401364409 | GAA | c.969G>C (p.Gln323His)
| gnomAD v4 |
17 | g.80108303G= | CA2277812659 | GAA | c.969G= (p.Gln323=)
| |
17 | g.80108303G>T | CA401364411 | GAA | c.969G>T (p.Gln323His)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108304C>A | CA401364412 | GAA | c.970C>A (p.Pro324Thr)
| |
17 | g.80108304C>G | CA401364414 | GAA | c.970C>G (p.Pro324Ala)
| |
17 | g.80108304C>T | CA401364416 | GAA | c.970C>T (p.Pro324Ser)
| gnomAD v4 |
17 | g.80108305dup | CA1585329339 | GAA | c.971dup (p.Ser325GlufsTer5)
| ClinVar dbSNP |
17 | g.80108305C>A | CA8815118 | GAA | c.971C>A (p.Pro324Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108305C= | CA2277812660 | GAA | c.971C= (p.Pro324=)
| |
17 | g.80108305C>G | CA8815120 | GAA | c.971C>G (p.Pro324Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108305C>T | CA8815119 | GAA | c.971C>T (p.Pro324Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108306G>A | CA8815121 | GAA | c.972G>A (p.Pro324=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108306G>C | CA502178196 | GAA | c.972G>C (p.Pro324=)
| ClinVar dbSNP |
17 | g.80108306G= | CA2277812661 | GAA | c.972G= (p.Pro324=)
| |
17 | g.80108306G>T | CA502178197 | GAA | c.972G>T (p.Pro324=)
| gnomAD v4 |