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 |
17 | g.80108307A>C | CA401364421 | GAA | c.973A>C (p.Ser325Arg)
| |
17 | g.80108307A>G | CA401364426 | GAA | c.973A>G (p.Ser325Gly)
| |
17 | g.80108307A>T | CA401364424 | GAA | c.973A>T (p.Ser325Cys)
| |
17 | g.80108308G>A | CA294891758 | GAA | c.974G>A (p.Ser325Asn)
| ClinVar dbSNP gnomAD v4 |
17 | g.80108308G>C | CA401364431 | GAA | c.974G>C (p.Ser325Thr)
| |
17 | g.80108308G= | CA2277812662 | GAA | c.974G= (p.Ser325=)
| |
17 | g.80108308G>T | CA401364433 | GAA | c.974G>T (p.Ser325Ile)
| |
17 | g.80108309C>A | CA401364435 | GAA | c.975C>A (p.Ser325Arg)
| |
17 | g.80108309C>G | CA401364437 | GAA | c.975C>G (p.Ser325Arg)
| |
17 | g.80108309C>T | CA502178205 | GAA | c.975C>T (p.Ser325=)
| |
17 | g.80108310C>A | CA401364439 | GAA | c.976C>A (p.Pro326Thr)
| |
17 | g.80108310C= | CA2277812663 | GAA | c.976C= (p.Pro326=)
| |
17 | g.80108310C>G | CA401364440 | GAA | c.976C>G (p.Pro326Ala)
| |
17 | g.80108310C>T | CA401364442 | GAA | c.976C>T (p.Pro326Ser)
| ClinVar dbSNP |
17 | g.80108311C>A | CA401364444 | GAA | c.977C>A (p.Pro326His)
| |
17 | g.80108311C>G | CA401364446 | GAA | c.977C>G (p.Pro326Arg)
| |
17 | g.80108311C>T | CA401364447 | GAA | c.977C>T (p.Pro326Leu)
| |
17 | g.80108312T>A | CA502178212 | GAA | c.978T>A (p.Pro326=)
| |
17 | g.80108312T>C | CA502178214 | GAA | c.978T>C (p.Pro326=)
| |
17 | g.80108312T>G | CA502178216 | GAA | c.978T>G (p.Pro326=)
| |
17 | g.80108313G>A | CA8815122 | GAA | c.979G>A (p.Ala327Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108313G>C | CA401364449 | GAA | c.979G>C (p.Ala327Pro)
| gnomAD v4 |
17 | g.80108313G= | CA2277812664 | GAA | c.979G= (p.Ala327=)
| |
17 | g.80108313G>T | CA401364448 | GAA | c.979G>T (p.Ala327Ser)
| gnomAD v4 |
17 | g.80108314C>A | CA401364453 | GAA | c.980C>A (p.Ala327Asp)
| |
17 | g.80108314C= | CA2277812665 | GAA | c.980C= (p.Ala327=)
| |
17 | g.80108314C>G | CA401364455 | GAA | c.980C>G (p.Ala327Gly)
| dbSNP |
17 | g.80108314C>T | CA401364457 | GAA | c.980C>T (p.Ala327Val)
| |
17 | g.80108316del | CA2695227073 | GAA | c.982del (p.Ser329AlafsTer?)
| |
17 | g.80108315C>A | CA502178221 | GAA | c.981C>A (p.Ala327=)
| |
17 | g.80108315C>G | CA502178223 | GAA | c.981C>G (p.Ala327=)
| |
17 | g.80108315C>T | CA502178225 | GAA | c.981C>T (p.Ala327=)
| |
17 | g.80108316C>A | CA401364459 | GAA | c.982C>A (p.Leu328Ile)
| |
17 | g.80108316C= | CA2277812666 | GAA | c.982C= (p.Leu328=)
| |
17 | g.80108316C>G | CA401364461 | GAA | c.982C>G (p.Leu328Val)
| |
17 | g.80108316C>T | CA401364463 | GAA | c.982C>T (p.Leu328Phe)
| ClinVar dbSNP |
17 | g.80108316_80108322del | CA2695227074 | GAA | c.982_988del (p.Leu328GlyfsTer?)
| |
17 | g.80108317T>A | CA401364464 | GAA | c.983T>A (p.Leu328His)
| |
17 | g.80108317T>C | CA401364466 | GAA | c.983T>C (p.Leu328Pro)
| |
17 | g.80108317T>G | CA401364468 | GAA | c.983T>G (p.Leu328Arg)
| gnomAD v4 |
17 | g.80108318T>A | CA502178231 | GAA | c.984T>A (p.Leu328=)
| |
17 | g.80108318T>C | CA502178233 | GAA | c.984T>C (p.Leu328=)
| |
17 | g.80108318T>G | CA502178234 | GAA | c.984T>G (p.Leu328=)
| |
17 | g.80108319del | CA2576414014 | GAA | c.985del (p.Ser329AlafsTer?)
| |
17 | g.80108319A>C | CA401364471 | GAA | c.985A>C (p.Ser329Arg)
| |
17 | g.80108319A>G | CA401364473 | GAA | c.985A>G (p.Ser329Gly)
| |
17 | g.80108319A>T | CA401364475 | GAA | c.985A>T (p.Ser329Cys)
| |
17 | g.80108320G>A | CA401364479 | GAA | c.986G>A (p.Ser329Asn)
| |
17 | g.80108320G>C | CA401364478 | GAA | c.986G>C (p.Ser329Thr)
| |
17 | g.80108320G>T | CA401364476 | GAA | c.986G>T (p.Ser329Ile)
| |
17 | g.80108321C>A | CA401364480 | GAA | c.987C>A (p.Ser329Arg)
| |
17 | g.80108321C= | CA2277812667 | GAA | c.987C= (p.Ser329=)
| |
17 | g.80108321C>G | CA401364482 | GAA | c.987C>G (p.Ser329Arg)
| gnomAD v4 |
17 | g.80108321C>T | CA8815123 | GAA | c.987C>T (p.Ser329=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108322_80108332del | CA2697555243 | GAA | c.988_998del (p.Trp330ArgfsTer?)
| ClinVar |
17 | g.80108322T>A | CA401364483 | GAA | c.988T>A (p.Trp330Arg)
| |
17 | g.80108322T>C | CA401364485 | GAA | c.988T>C (p.Trp330Arg)
| |
17 | g.80108322T>G | CA401364484 | GAA | c.988T>G (p.Trp330Gly)
| |
17 | g.80108323G>A | CA401364487 | GAA | c.989G>A (p.Trp330Ter)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108323G>C | CA401364489 | GAA | c.989G>C (p.Trp330Ser)
| |
17 | g.80108323G= | CA2277812668 | GAA | c.989G= (p.Trp330=)
| |
17 | g.80108323G>T | CA401364491 | GAA | c.989G>T (p.Trp330Leu)
| |
17 | g.80108324G>A | CA401364492 | GAA | c.990G>A (p.Trp330Ter)
| |
17 | g.80108324G>C | CA401364494 | GAA | c.990G>C (p.Trp330Cys)
| ClinVar |
17 | g.80108324G>T | CA401364495 | GAA | c.990G>T (p.Trp330Cys)
| |
17 | g.80108325A>C | CA502178250 | GAA | c.991A>C (p.Arg331=)
| |
17 | g.80108325A>G | CA401364497 | GAA | c.991A>G (p.Arg331Gly)
| |
17 | g.80108325A>T | CA401364498 | GAA | c.991A>T (p.Arg331Trp)
| |
17 | g.80108326G>A | CA401364500 | GAA | c.992G>A (p.Arg331Lys)
| |
17 | g.80108326G>C | CA401364502 | GAA | c.992G>C (p.Arg331Thr)
| |
17 | g.80108326G>T | CA401364503 | GAA | c.992G>T (p.Arg331Met)
| |
17 | g.80108327G>A | CA8815124 | GAA | c.993G>A (p.Arg331=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108327G>C | CA401364505 | GAA | c.993G>C (p.Arg331Ser)
| |
17 | g.80108327G= | CA2277812669 | GAA | c.993G= (p.Arg331=)
| |
17 | g.80108327G>T | CA401364507 | GAA | c.993G>T (p.Arg331Ser)
| gnomAD v4 |
17 | g.80108328T>A | CA401364511 | GAA | c.994T>A (p.Ser332Thr)
| |
17 | g.80108328T>C | CA401364512 | GAA | c.994T>C (p.Ser332Pro)
| |
17 | g.80108328T>G | CA401364514 | GAA | c.994T>G (p.Ser332Ala)
| |
17 | g.80108328_80108329insTT | CA919905421 | GAA | c.994_995insTT (p.Ser332PhefsTer?)
| dbSNP |
17 | g.80108329C>A | CA401364516 | GAA | c.995C>A (p.Ser332Ter)
| ClinVar dbSNP |
17 | g.80108329C= | CA2277812670 | GAA | c.995C= (p.Ser332=)
| |
17 | g.80108329C>G | CA401364518 | GAA | c.995C>G (p.Ser332Trp)
| |
17 | g.80108329C>T | CA8815125 | GAA | c.995C>T (p.Ser332Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108330G>A | CA8815126 | GAA | c.996G>A (p.Ser332=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.80108330G>C | CA502178262 | GAA | c.996G>C (p.Ser332=)
| |
17 | g.80108330G= | CA2277812671 | GAA | c.996G= (p.Ser332=)
| |
17 | g.80108330G>T | CA502178260 | GAA | c.996G>T (p.Ser332=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80108331A>C | CA401364522 | GAA | c.997A>C (p.Thr333Pro)
| |
17 | g.80108331A>G | CA401364523 | GAA | c.997A>G (p.Thr333Ala)
| |
17 | g.80108331A>T | CA401364525 | GAA | c.997A>T (p.Thr333Ser)
| |
17 | g.80108332C>A | CA401364529 | GAA | c.998C>A (p.Thr333Lys)
| gnomAD v4 |
17 | g.80108332C>G | CA401364530 | GAA | c.998C>G (p.Thr333Arg)
| gnomAD v4 |
17 | g.80108332C>T | CA401364527 | GAA | c.998C>T (p.Thr333Ile)
| |