Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.73682974A>C | CA456052777 | DNAJC30 | c.450T>G (p.Gly150=) | dbSNP |
7 | g.73682974A>G | CA456052776 | DNAJC30 | c.450T>C (p.Gly150=) | |
7 | g.73682974A>T | CA456052775 | DNAJC30 | c.450T>A (p.Gly150=) | |
7 | g.73682975C>A | CA367826409 | DNAJC30 | c.449G>T (p.Gly150Val) | |
7 | g.73682975C>G | CA367826411 | DNAJC30 | c.449G>C (p.Gly150Ala) | gnomAD v4 |
7 | g.73682975C>T | CA367826410 | DNAJC30 | c.449G>A (p.Gly150Asp) | |
7 | g.73682976C>A | CA367826413 | DNAJC30 | c.448G>T (p.Gly150Cys) | gnomAD v4 |
7 | g.73682976C>G | CA367826415 | DNAJC30 | c.448G>C (p.Gly150Arg) | |
7 | g.73682976C>T | CA367826419 | DNAJC30 | c.448G>A (p.Gly150Ser) | |
7 | g.73682977G>A | CA456052779 | DNAJC30 | c.447C>T (p.Asp149=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73682977G>C | CA4289913 | DNAJC30 | c.447C>G (p.Asp149Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73682977G= | CA1717166243 | DNAJC30 | c.447C= (p.Asp149=) | |
7 | g.73682977G>T | CA367826423 | DNAJC30 | c.447C>A (p.Asp149Glu) | |
7 | g.73682978T>A | CA367826427 | DNAJC30 | c.446A>T (p.Asp149Val) | |
7 | g.73682978T>C | CA367826436 | DNAJC30 | c.446A>G (p.Asp149Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73682978T>G | CA367826438 | DNAJC30 | c.446A>C (p.Asp149Ala) | |
7 | g.73682978T= | CA1717166244 | DNAJC30 | c.446A= (p.Asp149=) | |
7 | g.73682979C>A | CA367826441 | DNAJC30 | c.445G>T (p.Asp149Tyr) | |
7 | g.73682979C>G | CA367826444 | DNAJC30 | c.445G>C (p.Asp149His) | |
7 | g.73682979C>T | CA367826446 | DNAJC30 | c.445G>A (p.Asp149Asn) | COSMIC |
7 | g.73682980G>A | CA4289914 | DNAJC30 | c.444C>T (p.His148=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73682980G>C | CA367826457 | DNAJC30 | c.444C>G (p.His148Gln) | |
7 | g.73682980G= | CA1717166245 | DNAJC30 | c.444C= (p.His148=) | |
7 | g.73682980G>T | CA367826448 | DNAJC30 | c.444C>A (p.His148Gln) | |
7 | g.73682981T>A | CA367826460 | DNAJC30 | c.443A>T (p.His148Leu) | |
7 | g.73682981T>C | CA4289915 | DNAJC30 | c.443A>G (p.His148Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73682981T>G | CA367826463 | DNAJC30 | c.443A>C (p.His148Pro) | |
7 | g.73682981T= | CA1717166246 | DNAJC30 | c.443A= (p.His148=) | |
7 | g.73682982G>A | CA367826469 | DNAJC30 | c.442C>T (p.His148Tyr) | |
7 | g.73682982G>C | CA367826476 | DNAJC30 | c.442C>G (p.His148Asp) | |
7 | g.73682982G>T | CA367826472 | DNAJC30 | c.442C>A (p.His148Asn) | |
7 | g.73682983G>A | CA456052792 | DNAJC30 | c.441C>T (p.Thr147=) | gnomAD v4 |
7 | g.73682983G>C | CA456052791 | DNAJC30 | c.441C>G (p.Thr147=) | |
7 | g.73682983G>T | CA456052790 | DNAJC30 | c.441C>A (p.Thr147=) | |
7 | g.73682984G>A | CA4289917 | DNAJC30 | c.440C>T (p.Thr147Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73682984G>C | CA367826483 | DNAJC30 | c.440C>G (p.Thr147Ser) | gnomAD v4 |
7 | g.73682984G= | CA1717166247 | DNAJC30 | c.440C= (p.Thr147=) | |
7 | g.73682984G>T | CA4289916 | DNAJC30 | c.440C>A (p.Thr147Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73682985T>A | CA367826489 | DNAJC30 | c.439A>T (p.Thr147Ser) | |
7 | g.73682985T>C | CA367826493 | DNAJC30 | c.439A>G (p.Thr147Ala) | |
7 | g.73682985T>G | CA367826496 | DNAJC30 | c.439A>C (p.Thr147Pro) | |
7 | g.73682986C>A | CA456052798 | DNAJC30 | c.438G>T (p.Arg146=) | |
7 | g.73682986C>G | CA456052797 | DNAJC30 | c.438G>C (p.Arg146=) | gnomAD v4 |
7 | g.73682986C>T | CA456052794 | DNAJC30 | c.438G>A (p.Arg146=) | gnomAD v4 |
7 | g.73682987C>A | CA367826502 | DNAJC30 | c.437G>T (p.Arg146Leu) | |
7 | g.73682987C= | CA1717166248 | DNAJC30 | c.437G= (p.Arg146=) | |
7 | g.73682987C>G | CA367826501 | DNAJC30 | c.437G>C (p.Arg146Pro) | gnomAD v4 |
7 | g.73682987C>T | CA367826500 | DNAJC30 | c.437G>A (p.Arg146Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73682988G>A | CA367826503 | DNAJC30 | c.436C>T (p.Arg146Trp) | gnomAD v4 |
7 | g.73682988G>C | CA367826504 | DNAJC30 | c.436C>G (p.Arg146Gly) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73682988G= | CA1717166249 | DNAJC30 | c.436C= (p.Arg146=) | |
7 | g.73682988G>T | CA456052801 | DNAJC30 | c.436C>A (p.Arg146=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73682989A= | CA1717166250 | DNAJC30 | c.435T= (p.Ser145=) | |
7 | g.73682989A>C | CA456052806 | DNAJC30 | c.435T>G (p.Ser145=) | |
7 | g.73682989A>G | CA4289918 | DNAJC30 | c.435T>C (p.Ser145=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73682989A>T | CA456052804 | DNAJC30 | c.435T>A (p.Ser145=) | |
7 | g.73682989_73682990insAAAGCCCAG | CA2776457787 | DNAJC30 | c.434_435insCTGGGCTTT (p.Ser145_Arg146insTrpAlaPhe) | |
7 | g.73682990G>A | CA4289919 | DNAJC30 | c.434C>T (p.Ser145Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73682990G>C | CA367826511 | DNAJC30 | c.434C>G (p.Ser145Cys) | |
7 | g.73682990G= | CA1717166251 | DNAJC30 | c.434C= (p.Ser145=) | |
7 | g.73682990G>T | CA367826514 | DNAJC30 | c.434C>A (p.Ser145Tyr) | |
7 | g.73682991A= | CA1717166252 | DNAJC30 | c.433T= (p.Ser145=) | |
7 | g.73682991A>C | CA367826527 | DNAJC30 | c.433T>G (p.Ser145Ala) | |
7 | g.73682991A>G | CA367826535 | DNAJC30 | c.433T>C (p.Ser145Pro) | |
7 | g.73682991A>T | CA367826528 | DNAJC30 | c.433T>A (p.Ser145Thr) | gnomAD v4 |
7 | g.73682992G>A | CA4289920 | DNAJC30 | c.432C>T (p.Thr144=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73682992G>C | CA456052814 | DNAJC30 | c.432C>G (p.Thr144=) | |
7 | g.73682992G= | CA1717166253 | DNAJC30 | c.432C= (p.Thr144=) | |
7 | g.73682992G>T | CA456052812 | DNAJC30 | c.432C>A (p.Thr144=) | dbSNP gnomAD v4 |
7 | g.73682994_73682997dup | CA1717166254 | DNAJC30 | c.429_432dup (p.Ser145HisfsTer22) | dbSNP |
7 | g.73682992_73682993insTGAAGGGGGTTCCTGGAGTCTCTAGGGTGCTTCTTCCAGAGTCTGTCTTCTTGCTTCCAGAT | CA2776457791 | DNAJC30 | c.431_432insATCTGGAAGCAAGAAGACAGACTCTGGAAGAAGCACCCTAGAGACTCCAGGAACCCCCTTCA (p.Arg146GlyfsTer?) | |
7 | g.73682993G>A | CA367826540 | DNAJC30 | c.431C>T (p.Thr144Ile) | |
7 | g.73682993G>C | CA367826543 | DNAJC30 | c.431C>G (p.Thr144Ser) | |
7 | g.73682993G>T | CA367826546 | DNAJC30 | c.431C>A (p.Thr144Asn) | |
7 | g.73682994T>A | CA367826550 | DNAJC30 | c.430A>T (p.Thr144Ser) | |
7 | g.73682994T>C | CA160072478 | DNAJC30 | c.430A>G (p.Thr144Ala) | dbSNP gnomAD v4 |
7 | g.73682994T>G | CA367826551 | DNAJC30 | c.430A>C (p.Thr144Pro) | |
7 | g.73682994T= | CA1717166255 | DNAJC30 | c.430A= (p.Thr144=) | |
7 | g.73682995G>A | CA456052819 | DNAJC30 | c.429C>T (p.Pro143=) | gnomAD v4 |
7 | g.73682995G>C | CA456052818 | DNAJC30 | c.429C>G (p.Pro143=) | |
7 | g.73682995G= | CA1717166256 | DNAJC30 | c.429C= (p.Pro143=) | |
7 | g.73682995G>T | CA4289921 | DNAJC30 | c.429C>A (p.Pro143=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73682996G>A | CA367826553 | DNAJC30 | c.428C>T (p.Pro143Leu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73682996G>C | CA367826556 | DNAJC30 | c.428C>G (p.Pro143Arg) | |
7 | g.73682996G= | CA1717166257 | DNAJC30 | c.428C= (p.Pro143=) | |
7 | g.73682996G>T | CA367826563 | DNAJC30 | c.428C>A (p.Pro143His) | |
7 | g.73682997G>A | CA367826570 | DNAJC30 | c.427C>T (p.Pro143Ser) | |
7 | g.73682997G>C | CA367826576 | DNAJC30 | c.427C>G (p.Pro143Ala) | |
7 | g.73682997G>T | CA367826573 | DNAJC30 | c.427C>A (p.Pro143Thr) | |
7 | g.73683003_73683014del | CA2683240312 | DNAJC30 | c.416_427del (p.Arg139_Pro142del) | gnomAD v4 |
7 | g.73682998C>A | CA456052826 | DNAJC30 | c.426G>T (p.Pro142=) | gnomAD v4 |
7 | g.73682998C= | CA1717166258 | DNAJC30 | c.426G= (p.Pro142=) | |
7 | g.73682998C>G | CA456052825 | DNAJC30 | c.426G>C (p.Pro142=) | |
7 | g.73682998C>T | CA4289922 | DNAJC30 | c.426G>A (p.Pro142=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73682999G>A | CA367826584 | DNAJC30 | c.425C>T (p.Pro142Leu) | |
7 | g.73682999G>C | CA367826586 | DNAJC30 | c.425C>G (p.Pro142Arg) | dbSNP |
7 | g.73682999G= | CA1717166259 | DNAJC30 | c.425C= (p.Pro142=) | |
7 | g.73682999G>T | CA367826587 | DNAJC30 | c.425C>A (p.Pro142Gln) | |
7 | g.73683000_73683016dup | CA1103051205 | DNAJC30 | c.409_425dup (p.Pro143ArgfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683000G>A | CA367826591 | DNAJC30 | c.424C>T (p.Pro142Ser) | gnomAD v4 |
7 | g.73683000G>C | CA367826593 | DNAJC30 | c.424C>G (p.Pro142Ala) | |
7 | g.73683000G>T | CA367826595 | DNAJC30 | c.424C>A (p.Pro142Thr) | |
7 | g.73683001C>A | CA456052832 | DNAJC30 | c.423G>T (p.Pro141=) | |
7 | g.73683001C= | CA1717166261 | DNAJC30 | c.423G= (p.Pro141=) | |
7 | g.73683001C>G | CA456052830 | DNAJC30 | c.423G>C (p.Pro141=) | |
7 | g.73683001C>T | CA456052828 | DNAJC30 | c.423G>A (p.Pro141=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683001_73683002delinsCG | CA1717166260 | DNAJC30 | c.422_423delinsCG (p.Pro141=) | |
7 | g.73683002G>A | CA367826599 | DNAJC30 | c.422C>T (p.Pro141Leu) | gnomAD v4 |
7 | g.73683002G>C | CA367826601 | DNAJC30 | c.422C>G (p.Pro141Arg) | gnomAD v4 |
7 | g.73683002G>T | CA367826603 | DNAJC30 | c.422C>A (p.Pro141Gln) | |
7 | g.73683005del | CA842009851 | DNAJC30 | c.422del (p.Pro141ArgfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683003G>A | CA367826607 | DNAJC30 | c.421C>T (p.Pro141Ser) | |
7 | g.73683003G>C | CA367826608 | DNAJC30 | c.421C>G (p.Pro141Ala) | gnomAD v4 |
7 | g.73683003G>T | CA367826611 | DNAJC30 | c.421C>A (p.Pro141Thr) | |
7 | g.73683004G>A | CA456052837 | DNAJC30 | c.420C>T (p.Thr140=) | COSMIC |
7 | g.73683004G>C | CA456052835 | DNAJC30 | c.420C>G (p.Thr140=) | dbSNP gnomAD v4 |
7 | g.73683004G= | CA1717166262 | DNAJC30 | c.420C= (p.Thr140=) | |
7 | g.73683004G>T | CA456052834 | DNAJC30 | c.420C>A (p.Thr140=) | |
7 | g.73683005G>A | CA367826614 | DNAJC30 | c.419C>T (p.Thr140Ile) | |
7 | g.73683005G>C | CA367826619 | DNAJC30 | c.419C>G (p.Thr140Ser) | |
7 | g.73683005G>T | CA367826618 | DNAJC30 | c.419C>A (p.Thr140Asn) | |
7 | g.73683006T>A | CA367826620 | DNAJC30 | c.418A>T (p.Thr140Ser) | |
7 | g.73683006T>C | CA367826621 | DNAJC30 | c.418A>G (p.Thr140Ala) | |
7 | g.73683006T>G | CA4289923 | DNAJC30 | c.418A>C (p.Thr140Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683006T= | CA1717166263 | DNAJC30 | c.418A= (p.Thr140=) | |
7 | g.73683007A= | CA1717166264 | DNAJC30 | c.417T= (p.Arg139=) | |
7 | g.73683007A>C | CA456052846 | DNAJC30 | c.417T>G (p.Arg139=) | |
7 | g.73683007A>G | CA456052845 | DNAJC30 | c.417T>C (p.Arg139=) | |
7 | g.73683007A>T | CA456052844 | DNAJC30 | c.417T>A (p.Arg139=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683008C>A | CA160072484 | DNAJC30 | c.416G>T (p.Arg139Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683008C= | CA1717166265 | DNAJC30 | c.416G= (p.Arg139=) | |
7 | g.73683008C>G | CA367826623 | DNAJC30 | c.416G>C (p.Arg139Pro) | gnomAD v4 |
7 | g.73683008C>T | CA367826625 | DNAJC30 | c.416G>A (p.Arg139His) | gnomAD v4 |
7 | g.73683009G>A | CA367826629 | DNAJC30 | c.415C>T (p.Arg139Cys) | gnomAD v4 |
7 | g.73683009G>C | CA367826631 | DNAJC30 | c.415C>G (p.Arg139Gly) | gnomAD v4 |
7 | g.73683009G>T | CA367826633 | DNAJC30 | c.415C>A (p.Arg139Ser) | |
7 | g.73683010C>A | CA456052851 | DNAJC30 | c.414G>T (p.Pro138=) | gnomAD v4 |
7 | g.73683010C>G | CA456052850 | DNAJC30 | c.414G>C (p.Pro138=) | |
7 | g.73683010C>T | CA456052849 | DNAJC30 | c.414G>A (p.Pro138=) | |
7 | g.73683011G>A | CA367826639 | DNAJC30 | c.413C>T (p.Pro138Leu) | gnomAD v4 |
7 | g.73683011G>C | CA4289924 | DNAJC30 | c.413C>G (p.Pro138Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683011G= | CA1717166266 | DNAJC30 | c.413C= (p.Pro138=) | |
7 | g.73683011G>T | CA367826635 | DNAJC30 | c.413C>A (p.Pro138Gln) | gnomAD v4 |
7 | g.73683012G>A | CA367826641 | DNAJC30 | c.412C>T (p.Pro138Ser) | gnomAD v4 |
7 | g.73683012G>C | CA367826642 | DNAJC30 | c.412C>G (p.Pro138Ala) | |
7 | g.73683012G>T | CA367826645 | DNAJC30 | c.412C>A (p.Pro138Thr) | |
7 | g.73683013C>A | CA456052866 | DNAJC30 | c.411G>T (p.Ser137=) | gnomAD v4 |
7 | g.73683013C>G | CA456052865 | DNAJC30 | c.411G>C (p.Ser137=) | |
7 | g.73683013C>T | CA456052864 | DNAJC30 | c.411G>A (p.Ser137=) | gnomAD v4 |
7 | g.73683014G>A | CA367826647 | DNAJC30 | c.410C>T (p.Ser137Leu) | |
7 | g.73683014G>C | CA367826650 | DNAJC30 | c.410C>G (p.Ser137Trp) | |
7 | g.73683014G= | CA1717166267 | DNAJC30 | c.410C= (p.Ser137=) | |
7 | g.73683014G>T | CA4289925 | DNAJC30 | c.410C>A (p.Ser137Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683015A>C | CA367826654 | DNAJC30 | c.409T>G (p.Ser137Ala) | |
7 | g.73683015A>G | CA367826656 | DNAJC30 | c.409T>C (p.Ser137Pro) | |
7 | g.73683015A>T | CA367826659 | DNAJC30 | c.409T>A (p.Ser137Thr) | |
7 | g.73683016G>A | CA4289926 | DNAJC30 | c.408C>T (p.Gly136=) | dbSNP ExAC gnomAD v2 |
7 | g.73683016G>C | CA456052873 | DNAJC30 | c.408C>G (p.Gly136=) | |
7 | g.73683016G= | CA1717166268 | DNAJC30 | c.408C= (p.Gly136=) | |
7 | g.73683016G>T | CA456052871 | DNAJC30 | c.408C>A (p.Gly136=) | gnomAD v4 |
7 | g.73683017C>A | CA367826663 | DNAJC30 | c.407G>T (p.Gly136Val) | gnomAD v4 |
7 | g.73683017C= | CA1717166269 | DNAJC30 | c.407G= (p.Gly136=) | |
7 | g.73683017C>G | CA367826665 | DNAJC30 | c.407G>C (p.Gly136Ala) | |
7 | g.73683017C>T | CA4289927 | DNAJC30 | c.407G>A (p.Gly136Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683018C>A | CA367826673 | DNAJC30 | c.406G>T (p.Gly136Cys) | |
7 | g.73683018C>G | CA367826671 | DNAJC30 | c.406G>C (p.Gly136Arg) | |
7 | g.73683018C>T | CA367826669 | DNAJC30 | c.406G>A (p.Gly136Ser) | gnomAD v4 |
7 | g.73683019G>A | CA456052884 | DNAJC30 | c.405C>T (p.Pro135=) | |
7 | g.73683019G>C | CA456052882 | DNAJC30 | c.405C>G (p.Pro135=) | gnomAD v4 |
7 | g.73683019G>T | CA456052880 | DNAJC30 | c.405C>A (p.Pro135=) | |
7 | g.73683022dup | CA2578906492 | DNAJC30 | c.405dup (p.Gly136ArgfsTer30) | gnomAD v4 |
7 | g.73683021_73683022dup | CA2683240313 | DNAJC30 | c.404_405dup (p.Gly136ProfsTer?) | gnomAD v4 |
7 | g.73683020G>A | CA367826675 | DNAJC30 | c.404C>T (p.Pro135Leu) | ClinVar dbSNP |
7 | g.73683020G>C | CA367826677 | DNAJC30 | c.404C>G (p.Pro135Arg) | dbSNP |
7 | g.73683020G= | CA1717166270 | DNAJC30 | c.404C= (p.Pro135=) | |
7 | g.73683020G>T | CA367826678 | DNAJC30 | c.404C>A (p.Pro135His) | gnomAD v4 |
7 | g.73683021G>A | CA367826680 | DNAJC30 | c.403C>T (p.Pro135Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683021G>C | CA367826682 | DNAJC30 | c.403C>G (p.Pro135Ala) | |
7 | g.73683021G= | CA1717166271 | DNAJC30 | c.403C= (p.Pro135=) | |
7 | g.73683021G>T | CA367826684 | DNAJC30 | c.403C>A (p.Pro135Thr) | |
7 | g.73683022G>A | CA456052889 | DNAJC30 | c.402C>T (p.Asp134=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683022G>C | CA367826687 | DNAJC30 | c.402C>G (p.Asp134Glu) | |
7 | g.73683022G= | CA1717166272 | DNAJC30 | c.402C= (p.Asp134=) | |
7 | g.73683022G>T | CA367826688 | DNAJC30 | c.402C>A (p.Asp134Glu) | |
7 | g.73683023T>A | CA367826691 | DNAJC30 | c.401A>T (p.Asp134Val) | |
7 | g.73683023T>C | CA367826693 | DNAJC30 | c.401A>G (p.Asp134Gly) | gnomAD v4 |
7 | g.73683023T>G | CA4289928 | DNAJC30 | c.401A>C (p.Asp134Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683023T= | CA1717166273 | DNAJC30 | c.401A= (p.Asp134=) | |
7 | g.73683024C>A | CA367826695 | DNAJC30 | c.400G>T (p.Asp134Tyr) | gnomAD v4 |
7 | g.73683024C= | CA1717166274 | DNAJC30 | c.400G= (p.Asp134=) | |
7 | g.73683024C>G | CA367826697 | DNAJC30 | c.400G>C (p.Asp134His) | dbSNP gnomAD v4 |
7 | g.73683024C>T | CA4289929 | DNAJC30 | c.400G>A (p.Asp134Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683025G>A | CA456052898 | BUD23,DNAJC30 | c.399C>T (p.Pro133=) n.1G>A | gnomAD v4 |
7 | g.73683025G>C | CA456052897 | BUD23,DNAJC30 | c.399C>G (p.Pro133=) n.1G>C | |
7 | g.73683025G>T | CA456052896 | BUD23,DNAJC30 | c.399C>A (p.Pro133=) n.1G>T | |
7 | g.73683026G>A | CA4289930 | BUD23,DNAJC30 | c.398C>T (p.Pro133Leu) n.2G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683026G>C | CA4289931 | BUD23,DNAJC30 | c.398C>G (p.Pro133Arg) n.2G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683026G= | CA1717166275 | BUD23,DNAJC30 | c.398C= (p.Pro133=) n.2G= | |
7 | g.73683026G>T | CA367826701 | BUD23,DNAJC30 | c.398C>A (p.Pro133His) n.2G>T | dbSNP |
7 | g.73683027G>A | CA4289932 | BUD23,DNAJC30 | c.397C>T (p.Pro133Ser) n.3G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683027G>C | CA367826706 | BUD23,DNAJC30 | c.397C>G (p.Pro133Ala) n.3G>C | |
7 | g.73683027G= | CA1717166276 | BUD23,DNAJC30 | c.397C= (p.Pro133=) n.3G= | |
7 | g.73683027G>T | CA367826708 | BUD23,DNAJC30 | c.397C>A (p.Pro133Thr) n.3G>T | |
7 | g.73683028T>A | CA456052902 | BUD23,DNAJC30 | c.396A>T (p.Ala132=) n.4T>A | |
7 | g.73683028T>C | CA456052900 | BUD23,DNAJC30 | c.396A>G (p.Ala132=) n.4T>C | |
7 | g.73683028T>G | CA456052899 | BUD23,DNAJC30 | c.396A>C (p.Ala132=) n.4T>G | |
7 | g.73683029G>A | CA367826710 | BUD23,DNAJC30 | c.395C>T (p.Ala132Val) n.5G>A | gnomAD v4 |
7 | g.73683029G>C | CA367826712 | BUD23,DNAJC30 | c.395C>G (p.Ala132Gly) n.5G>C | dbSNP |
7 | g.73683029G= | CA1717166277 | BUD23,DNAJC30 | c.395C= (p.Ala132=) n.5G= | |
7 | g.73683029G>T | CA367826714 | BUD23,DNAJC30 | c.395C>A (p.Ala132Glu) n.5G>T | |
7 | g.73683030C>A | CA367826716 | BUD23,DNAJC30 | c.394G>T (p.Ala132Ser) n.6C>A | dbSNP gnomAD v4 |
7 | g.73683030C= | CA1717166278 | BUD23,DNAJC30 | c.394G= (p.Ala132=) n.6C= | |
7 | g.73683030C>G | CA367826717 | BUD23,DNAJC30 | c.394G>C (p.Ala132Pro) n.6C>G | |
7 | g.73683030C>T | CA4289933 | BUD23,DNAJC30 | c.394G>A (p.Ala132Thr) n.6C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683031G>A | CA456052906 | BUD23,DNAJC30 | c.393C>T (p.Pro131=) n.7G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.73683031G>C | CA456052905 | BUD23,DNAJC30 | c.393C>G (p.Pro131=) n.7G>C | gnomAD v4 |
7 | g.73683031G= | CA1717166279 | BUD23,DNAJC30 | c.393C= (p.Pro131=) n.7G= | |
7 | g.73683031G>T | CA456052904 | BUD23,DNAJC30 | c.393C>A (p.Pro131=) n.7G>T | gnomAD v4 |
7 | g.73683032G>A | CA367826719 | BUD23,DNAJC30 | c.392C>T (p.Pro131Leu) n.8G>A | |
7 | g.73683032G>C | CA4289934 | BUD23,DNAJC30 | c.392C>G (p.Pro131Arg) n.8G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683032G= | CA1717166280 | BUD23,DNAJC30 | c.392C= (p.Pro131=) n.8G= | |
7 | g.73683032G>T | CA367826722 | BUD23,DNAJC30 | c.392C>A (p.Pro131His) n.8G>T | |
7 | g.73683033G>A | CA4289935 | BUD23,DNAJC30 | c.391C>T (p.Pro131Ser) n.9G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683033G>C | CA367826724 | BUD23,DNAJC30 | c.391C>G (p.Pro131Ala) n.9G>C | |
7 | g.73683033G= | CA1717166281 | BUD23,DNAJC30 | c.391C= (p.Pro131=) n.9G= | |
7 | g.73683033G>T | CA367826726 | BUD23,DNAJC30 | c.391C>A (p.Pro131Thr) n.9G>T | gnomAD v4 |
7 | g.73683034C>A | CA4289936 | BUD23,DNAJC30 | c.390G>T (p.Thr130=) n.10C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683034C= | CA1717166282 | BUD23,DNAJC30 | c.390G= (p.Thr130=) n.10C= | |
7 | g.73683034C>G | CA456052911 | BUD23,DNAJC30 | c.390G>C (p.Thr130=) n.10C>G | |
7 | g.73683034C>T | CA456052910 | BUD23,DNAJC30 | c.390G>A (p.Thr130=) n.10C>T | gnomAD v4 |
7 | g.73683035G>A | CA4289937 | BUD23,DNAJC30 | c.389C>T (p.Thr130Met) n.11G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683035G>C | CA367826731 | BUD23,DNAJC30 | c.389C>G (p.Thr130Arg) n.11G>C | gnomAD v4 |
7 | g.73683035G= | CA1717166283 | BUD23,DNAJC30 | c.389C= (p.Thr130=) n.11G= | |
7 | g.73683035G>T | CA367826733 | BUD23,DNAJC30 | c.389C>A (p.Thr130Lys) n.11G>T | gnomAD v4 |
7 | g.73683036T>A | CA367826735 | BUD23,DNAJC30 | c.388A>T (p.Thr130Ser) n.12T>A | |
7 | g.73683036T>C | CA367826737 | BUD23,DNAJC30 | c.388A>G (p.Thr130Ala) n.12T>C | dbSNP |
7 | g.73683036T>G | CA367826739 | BUD23,DNAJC30 | c.388A>C (p.Thr130Pro) n.12T>G | |
7 | g.73683036_73683037insAT | CA2578906493 | BUD23,DNAJC30 | c.388_389insTA (p.Thr130IlefsTer?) n.12_13insAT | gnomAD v4 |
7 | g.73683037C>A | CA367826740 | BUD23,DNAJC30 | c.387G>T (p.Arg129Ser) n.13C>A | dbSNP gnomAD v2 |
7 | g.73683037C= | CA1717166284 | BUD23,DNAJC30 | c.387G= (p.Arg129=) n.13C= | |
7 | g.73683037C>G | CA367826742 | BUD23,DNAJC30 | c.387G>C (p.Arg129Ser) n.13C>G | |
7 | g.73683037C>T | CA456052917 | BUD23,DNAJC30 | c.387G>A (p.Arg129=) n.13C>T | |
7 | g.73683038C>A | CA367826744 | BUD23,DNAJC30 | c.386G>T (p.Arg129Met) n.14C>A | |
7 | g.73683038C>G | CA367826746 | BUD23,DNAJC30 | c.386G>C (p.Arg129Thr) n.14C>G | |
7 | g.73683038C>T | CA367826748 | BUD23,DNAJC30 | c.386G>A (p.Arg129Lys) n.14C>T | |
7 | g.73683039T>A | CA367826750 | BUD23,DNAJC30 | c.385A>T (p.Arg129Trp) n.15T>A | |
7 | g.73683039T>C | CA367826752 | BUD23,DNAJC30 | c.385A>G (p.Arg129Gly) n.15T>C | |
7 | g.73683039T>G | CA456052918 | BUD23,DNAJC30 | c.385A>C (p.Arg129=) n.15T>G | |
7 | g.73683040G>A | CA456052927 | BUD23,DNAJC30 | c.384C>T (p.Ser128=) n.16G>A | |
7 | g.73683040G>C | CA456052926 | BUD23,DNAJC30 | c.384C>G (p.Ser128=) n.16G>C | |
7 | g.73683040G>T | CA456052925 | BUD23,DNAJC30 | c.384C>A (p.Ser128=) n.16G>T | |
7 | g.73683041G>A | CA367826754 | BUD23,DNAJC30 | c.383C>T (p.Ser128Phe) n.17G>A | |
7 | g.73683041G>C | CA367826758 | BUD23,DNAJC30 | c.383C>G (p.Ser128Cys) n.17G>C | gnomAD v4 |
7 | g.73683041G>T | CA367826756 | BUD23,DNAJC30 | c.383C>A (p.Ser128Tyr) n.17G>T | gnomAD v4 |
7 | g.73683042A= | CA1717166285 | BUD23,DNAJC30 | c.382T= (p.Ser128=) n.18A= | |
7 | g.73683042A>C | CA367826759 | BUD23,DNAJC30 | c.382T>G (p.Ser128Ala) n.18A>C | |
7 | g.73683042A>G | CA367826761 | BUD23,DNAJC30 | c.382T>C (p.Ser128Pro) n.18A>G | dbSNP gnomAD v4 |
7 | g.73683042A>T | CA367826763 | BUD23,DNAJC30 | c.382T>A (p.Ser128Thr) n.18A>T | |
7 | g.73683043G>A | CA456052934 | BUD23,DNAJC30 | c.381C>T (p.Pro127=) n.19G>A | dbSNP gnomAD v4 |
7 | g.73683043G>C | CA456052933 | BUD23,DNAJC30 | c.381C>G (p.Pro127=) n.19G>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683043G= | CA1717166286 | BUD23,DNAJC30 | c.381C= (p.Pro127=) n.19G= | |
7 | g.73683043G>T | CA456052932 | BUD23,DNAJC30 | c.381C>A (p.Pro127=) n.19G>T | |
7 | g.73683044G>A | CA367826765 | BUD23,DNAJC30 | c.380C>T (p.Pro127Leu) n.20G>A | dbSNP gnomAD v2 |
7 | g.73683044G>C | CA367826766 | BUD23,DNAJC30 | c.380C>G (p.Pro127Arg) n.20G>C | |
7 | g.73683044G= | CA1717166287 | BUD23,DNAJC30 | c.380C= (p.Pro127=) n.20G= | |
7 | g.73683044G>T | CA367826768 | BUD23,DNAJC30 | c.380C>A (p.Pro127His) n.20G>T | |
7 | g.73683045G>A | CA367826770 | BUD23,DNAJC30 | c.379C>T (p.Pro127Ser) n.21G>A | |
7 | g.73683045G>C | CA367826772 | BUD23,DNAJC30 | c.379C>G (p.Pro127Ala) n.21G>C | |
7 | g.73683045G>T | CA367826774 | BUD23,DNAJC30 | c.379C>A (p.Pro127Thr) n.21G>T | |
7 | g.73683045_73683046delinsGC | CA1717166288 | BUD23,DNAJC30 | c.378_379delinsGC (p.Arg126=) n.21_22delinsGC | |
7 | g.73683046C>A | CA456052940 | BUD23,DNAJC30 | c.378G>T (p.Arg126=) n.22C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683046C= | CA1717166289 | BUD23,DNAJC30 | c.378G= (p.Arg126=) n.22C= | |
7 | g.73683046C>G | CA456052938 | BUD23,DNAJC30 | c.378G>C (p.Arg126=) n.22C>G | |
7 | g.73683046C>T | CA456052937 | BUD23,DNAJC30 | c.378G>A (p.Arg126=) n.22C>T | gnomAD v4 |
7 | g.73683047del | CA575783328 | BUD23,DNAJC30 | c.378del (p.Ser128ProfsTer?) n.23del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683047C>A | CA367826775 | BUD23,DNAJC30 | c.377G>T (p.Arg126Leu) n.23C>A | |
7 | g.73683047C= | CA1717166290 | BUD23,DNAJC30 | c.377G= (p.Arg126=) n.23C= | |
7 | g.73683047C>G | CA4289938 | BUD23,DNAJC30 | c.377G>C (p.Arg126Pro) n.23C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683047C>T | CA367826777 | BUD23,DNAJC30 | c.377G>A (p.Arg126Gln) n.23C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683048G>A | CA367826781 | BUD23,DNAJC30 | c.376C>T (p.Arg126Trp) n.24G>A | gnomAD v4 |
7 | g.73683048G>C | CA367826780 | BUD23,DNAJC30 | c.376C>G (p.Arg126Gly) n.24G>C | |
7 | g.73683048G>T | CA456052943 | BUD23,DNAJC30 | c.376C>A (p.Arg126=) n.24G>T | gnomAD v4 |
7 | g.73683049G>A | CA456052951 | BUD23,DNAJC30 | c.375C>T (p.Val125=) n.25G>A | gnomAD v4 COSMIC |
7 | g.73683049G>C | CA456052945 | BUD23,DNAJC30 | c.375C>G (p.Val125=) n.25G>C | gnomAD v4 |
7 | g.73683049G>T | CA456052944 | BUD23,DNAJC30 | c.375C>A (p.Val125=) n.25G>T | |
7 | g.73683050A= | CA1717166291 | BUD23,DNAJC30 | c.374T= (p.Val125=) n.26A= | |
7 | g.73683050A>C | CA367826784 | BUD23,DNAJC30 | c.374T>G (p.Val125Gly) n.26A>C | |
7 | g.73683050A>G | CA4289939 | BUD23,DNAJC30 | c.374T>C (p.Val125Ala) n.26A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683050A>T | CA367826787 | BUD23,DNAJC30 | c.374T>A (p.Val125Asp) n.26A>T | |
7 | g.73683051C>A | CA367826789 | BUD23,DNAJC30 | c.373G>T (p.Val125Phe) n.27C>A | gnomAD v4 |
7 | g.73683051C>G | CA367826791 | BUD23,DNAJC30 | c.373G>C (p.Val125Leu) n.27C>G | |
7 | g.73683051C>T | CA367826793 | BUD23,DNAJC30 | c.373G>A (p.Val125Ile) n.27C>T | gnomAD v4 |
7 | g.73683052G>A | CA456052957 | BUD23,DNAJC30 | c.372C>T (p.Gly124=) n.28G>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683052G>C | CA456052956 | BUD23,DNAJC30 | c.372C>G (p.Gly124=) n.28G>C | dbSNP gnomAD v4 |
7 | g.73683052G= | CA1717166292 | BUD23,DNAJC30 | c.372C= (p.Gly124=) n.28G= | |
7 | g.73683052G>T | CA456052955 | BUD23,DNAJC30 | c.372C>A (p.Gly124=) n.28G>T | gnomAD v4 |
7 | g.73683053C>A | CA367826795 | BUD23,DNAJC30 | c.371G>T (p.Gly124Val) n.29C>A | dbSNP gnomAD v2 |
7 | g.73683053C= | CA1717166293 | BUD23,DNAJC30 | c.371G= (p.Gly124=) n.29C= | |
7 | g.73683053C>G | CA367826797 | BUD23,DNAJC30 | c.371G>C (p.Gly124Ala) n.29C>G | |
7 | g.73683053C>T | CA367826799 | BUD23,DNAJC30 | c.371G>A (p.Gly124Asp) n.29C>T | |
7 | g.73683054C>A | CA367826801 | BUD23,DNAJC30 | c.370G>T (p.Gly124Cys) n.30C>A | |
7 | g.73683054C>G | CA367826803 | BUD23,DNAJC30 | c.370G>C (p.Gly124Arg) n.30C>G | |
7 | g.73683054C>T | CA367826805 | BUD23,DNAJC30 | c.370G>A (p.Gly124Ser) n.30C>T | gnomAD v4 |
7 | g.73683055A>C | CA456052963 | BUD23,DNAJC30 | c.369T>G (p.Pro123=) n.31A>C | |
7 | g.73683055A>G | CA456052962 | BUD23,DNAJC30 | c.369T>C (p.Pro123=) n.31A>G | gnomAD v4 |
7 | g.73683055A>T | CA456052961 | BUD23,DNAJC30 | c.369T>A (p.Pro123=) n.31A>T | |
7 | g.73683056G>A | CA367826810 | BUD23,DNAJC30 | c.368C>T (p.Pro123Leu) n.32G>A | |
7 | g.73683056G>C | CA4289940 | BUD23,DNAJC30 | c.368C>G (p.Pro123Arg) n.32G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683056G= | CA1717166294 | BUD23,DNAJC30 | c.368C= (p.Pro123=) n.32G= | |
7 | g.73683056G>T | CA367826807 | BUD23,DNAJC30 | c.368C>A (p.Pro123His) n.32G>T | |
7 | g.73683057G>A | CA367826816 | BUD23,DNAJC30 | c.367C>T (p.Pro123Ser) n.33G>A | |
7 | g.73683057G>C | CA367826812 | BUD23,DNAJC30 | c.367C>G (p.Pro123Ala) n.33G>C | |
7 | g.73683057G>T | CA367826814 | BUD23,DNAJC30 | c.367C>A (p.Pro123Thr) n.33G>T | |
7 | g.73683058T>A | CA456052972 | BUD23,DNAJC30 | c.366A>T (p.Gly122=) n.34T>A | |
7 | g.73683058T>C | CA456052971 | BUD23,DNAJC30 | c.366A>G (p.Gly122=) n.34T>C | |
7 | g.73683058T>G | CA456052969 | BUD23,DNAJC30 | c.366A>C (p.Gly122=) n.34T>G | gnomAD v4 |
7 | g.73683059C>A | CA367826818 | BUD23,DNAJC30 | c.365G>T (p.Gly122Val) n.35C>A | gnomAD v4 |
7 | g.73683059C= | CA1717166295 | BUD23,DNAJC30 | c.365G= (p.Gly122=) n.35C= | |
7 | g.73683059C>G | CA367826820 | BUD23,DNAJC30 | c.365G>C (p.Gly122Ala) n.35C>G | gnomAD v4 |
7 | g.73683059C>T | CA367826822 | BUD23,DNAJC30 | c.365G>A (p.Gly122Glu) n.35C>T | dbSNP gnomAD v4 |
7 | g.73683060C>A | CA367826826 | BUD23,DNAJC30 | c.364G>T (p.Gly122Ter) n.36C>A | gnomAD v4 |
7 | g.73683060C= | CA1717166296 | BUD23,DNAJC30 | c.364G= (p.Gly122=) n.36C= | |
7 | g.73683060C>G | CA4289942 | BUD23,DNAJC30 | c.364G>C (p.Gly122Arg) n.36C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683060C>T | CA4289941 | BUD23,DNAJC30 | c.364G>A (p.Gly122Arg) n.36C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683061G>A | CA456052979 | BUD23,DNAJC30 | c.363C>T (p.Arg121=) n.37G>A | gnomAD v4 |
7 | g.73683061G>C | CA456052977 | BUD23,DNAJC30 | c.363C>G (p.Arg121=) n.37G>C | |
7 | g.73683061G>T | CA456052975 | BUD23,DNAJC30 | c.363C>A (p.Arg121=) n.37G>T | |
7 | g.73683062C>A | CA367826828 | BUD23,DNAJC30 | c.362G>T (p.Arg121Leu) n.38C>A | |
7 | g.73683062C= | CA1717166297 | BUD23,DNAJC30 | c.362G= (p.Arg121=) n.38C= | |
7 | g.73683062C>G | CA367826830 | BUD23,DNAJC30 | c.362G>C (p.Arg121Pro) n.38C>G | |
7 | g.73683062C>T | CA367826832 | BUD23,DNAJC30 | c.362G>A (p.Arg121His) n.38C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683063G>A | CA367826833 | BUD23,DNAJC30 | c.361C>T (p.Arg121Cys) n.39G>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683063G>C | CA367826835 | BUD23,DNAJC30 | c.361C>G (p.Arg121Gly) n.39G>C | |
7 | g.73683063G= | CA1717166298 | BUD23,DNAJC30 | c.361C= (p.Arg121=) n.39G= | |
7 | g.73683063G>T | CA367826837 | BUD23,DNAJC30 | c.361C>A (p.Arg121Ser) n.39G>T | |
7 | g.73683064C>A | CA160072517 | BUD23,DNAJC30 | c.360G>T (p.Leu120=) n.40C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683064C= | CA1717166299 | BUD23,DNAJC30 | c.360G= (p.Leu120=) n.40C= | |
7 | g.73683064C>G | CA456052983 | BUD23,DNAJC30 | c.360G>C (p.Leu120=) n.40C>G | |
7 | g.73683064C>T | CA456052981 | BUD23,DNAJC30 | c.360G>A (p.Leu120=) n.40C>T | |
7 | g.73683065A>C | CA367826839 | BUD23,DNAJC30 | c.359T>G (p.Leu120Arg) n.41A>C | |
7 | g.73683065A>G | CA367826843 | BUD23,DNAJC30 | c.359T>C (p.Leu120Pro) n.41A>G | |
7 | g.73683065A>T | CA367826841 | BUD23,DNAJC30 | c.359T>A (p.Leu120Gln) n.41A>T | |
7 | g.73683066G>A | CA456052990 | BUD23,DNAJC30 | c.358C>T (p.Leu120=) n.42G>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683066G>C | CA367826845 | BUD23,DNAJC30 | c.358C>G (p.Leu120Val) n.42G>C | |
7 | g.73683066G= | CA1717166300 | BUD23,DNAJC30 | c.358C= (p.Leu120=) n.42G= | |
7 | g.73683066G>T | CA367826847 | BUD23,DNAJC30 | c.358C>A (p.Leu120Met) n.42G>T | |
7 | g.73683067G>A | CA456052992 | BUD23,DNAJC30 | c.357C>T (p.Asp119=) n.43G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683067G>C | CA367826849 | BUD23,DNAJC30 | c.357C>G (p.Asp119Glu) n.43G>C | |
7 | g.73683067G= | CA1717166301 | BUD23,DNAJC30 | c.357C= (p.Asp119=) n.43G= | |
7 | g.73683067G>T | CA367826851 | BUD23,DNAJC30 | c.357C>A (p.Asp119Glu) n.43G>T | gnomAD v4 |
7 | g.73683068T>A | CA367826853 | BUD23,DNAJC30 | c.356A>T (p.Asp119Val) n.44T>A | |
7 | g.73683068T>C | CA367826854 | BUD23,DNAJC30 | c.356A>G (p.Asp119Gly) n.44T>C | gnomAD v4 |
7 | g.73683068T>G | CA367826855 | BUD23,DNAJC30 | c.356A>C (p.Asp119Ala) n.44T>G | |
7 | g.73683069C>A | CA367826857 | BUD23,DNAJC30 | c.355G>T (p.Asp119Tyr) n.45C>A | |
7 | g.73683069C= | CA1717166302 | BUD23,DNAJC30 | c.355G= (p.Asp119=) n.45C= | |
7 | g.73683069C>G | CA367826859 | BUD23,DNAJC30 | c.355G>C (p.Asp119His) n.45C>G | |
7 | g.73683069C>T | CA367826862 | BUD23,DNAJC30 | c.355G>A (p.Asp119Asn) n.45C>T | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683070C>A | CA367826863 | BUD23,DNAJC30 | c.354G>T (p.Glu118Asp) n.46C>A | |
7 | g.73683070C= | CA1717166303 | BUD23,DNAJC30 | c.354G= (p.Glu118=) n.46C= | |
7 | g.73683070C>G | CA367826865 | BUD23,DNAJC30 | c.354G>C (p.Glu118Asp) n.46C>G | |
7 | g.73683070C>T | CA456052997 | BUD23,DNAJC30 | c.354G>A (p.Glu118=) n.46C>T | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683071T>A | CA367826869 | BUD23,DNAJC30 | c.353A>T (p.Glu118Val) n.47T>A | |
7 | g.73683071T>C | CA367826870 | BUD23,DNAJC30 | c.353A>G (p.Glu118Gly) n.47T>C | |
7 | g.73683071T>G | CA367826868 | BUD23,DNAJC30 | c.353A>C (p.Glu118Ala) n.47T>G | |
7 | g.73683072C>A | CA367826873 | BUD23,DNAJC30 | c.352G>T (p.Glu118Ter) n.48C>A | gnomAD v4 |
7 | g.73683072C>G | CA367826876 | BUD23,DNAJC30 | c.352G>C (p.Glu118Gln) n.48C>G | |
7 | g.73683072C>T | CA367826875 | BUD23,DNAJC30 | c.352G>A (p.Glu118Lys) n.48C>T | |
7 | g.73683073G>A | CA456053004 | BUD23,DNAJC30 | c.351C>T (p.Asp117=) n.49G>A | |
7 | g.73683073G>C | CA367826878 | BUD23,DNAJC30 | c.351C>G (p.Asp117Glu) n.49G>C | gnomAD v4 |
7 | g.73683073G>T | CA367826880 | BUD23,DNAJC30 | c.351C>A (p.Asp117Glu) n.49G>T | |
7 | g.73683074del | CA2683240317 | BUD23,DNAJC30 | c.350del (p.Asp117AlafsTer?) n.50del | gnomAD v4 |
7 | g.73683074T>A | CA367826882 | BUD23,DNAJC30 | c.350A>T (p.Asp117Val) n.50T>A | |
7 | g.73683074T>C | CA367826884 | BUD23,DNAJC30 | c.350A>G (p.Asp117Gly) n.50T>C | |
7 | g.73683074T>G | CA367826886 | BUD23,DNAJC30 | c.350A>C (p.Asp117Ala) n.50T>G |