Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.73683003_73683014del | CA2683240312 | DNAJC30 | c.416_427del (p.Arg139_Pro142del) | gnomAD v4 |
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 | |
7 | g.73683075C>A | CA367826888 | BUD23,DNAJC30 | c.349G>T (p.Asp117Tyr) n.51C>A | |
7 | g.73683075C>G | CA367826890 | BUD23,DNAJC30 | c.349G>C (p.Asp117His) n.51C>G | |
7 | g.73683075C>T | CA367826891 | BUD23,DNAJC30 | c.349G>A (p.Asp117Asn) n.51C>T | gnomAD v4 |
7 | g.73683075_73683076insAG | CA2683240318 | BUD23,DNAJC30 | c.348_349insCT (p.Asp117LeufsTer?) n.51_52insAG | gnomAD v4 |
7 | g.73683076G>A | CA456053012 | BUD23,DNAJC30 | c.348C>T (p.Ser116=) n.52G>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683076G>C | CA367826892 | BUD23,DNAJC30 | c.348C>G (p.Ser116Arg) n.52G>C | gnomAD v4 |
7 | g.73683076G= | CA1717166304 | BUD23,DNAJC30 | c.348C= (p.Ser116=) n.52G= | |
7 | g.73683076G>T | CA4289943 | BUD23,DNAJC30 | c.348C>A (p.Ser116Arg) n.52G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683077C>A | CA367826899 | BUD23,DNAJC30 | c.347G>T (p.Ser116Ile) n.53C>A | |
7 | g.73683077C>G | CA367826897 | BUD23,DNAJC30 | c.347G>C (p.Ser116Thr) n.53C>G | |
7 | g.73683077C>T | CA367826895 | BUD23,DNAJC30 | c.347G>A (p.Ser116Asn) n.53C>T | |
7 | g.73683078T>A | CA367826901 | BUD23,DNAJC30 | c.346A>T (p.Ser116Cys) n.54T>A | |
7 | g.73683078T>C | CA367826903 | BUD23,DNAJC30 | c.346A>G (p.Ser116Gly) n.54T>C | |
7 | g.73683078T>G | CA367826905 | BUD23,DNAJC30 | c.346A>C (p.Ser116Arg) n.54T>G | |
7 | g.73683079G>A | CA456053016 | BUD23,DNAJC30 | c.345C>T (p.Leu115=) n.55G>A | |
7 | g.73683079G>C | CA456053015 | BUD23,DNAJC30 | c.345C>G (p.Leu115=) n.55G>C | |
7 | g.73683079G>T | CA456053014 | BUD23,DNAJC30 | c.345C>A (p.Leu115=) n.55G>T | |
7 | g.73683080A= | CA1717166305 | BUD23,DNAJC30 | c.344T= (p.Leu115=) n.56A= | |
7 | g.73683080A>C | CA367826907 | BUD23,DNAJC30 | c.344T>G (p.Leu115Arg) n.56A>C | |
7 | g.73683080A>G | CA367826909 | BUD23,DNAJC30 | c.344T>C (p.Leu115Pro) n.56A>G | |
7 | g.73683080A>T | CA367826911 | BUD23,DNAJC30 | c.344T>A (p.Leu115His) n.56A>T | dbSNP |
7 | g.73683081G>A | CA160072521 | BUD23,DNAJC30 | c.343C>T (p.Leu115Phe) n.57G>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683081G>C | CA367826913 | BUD23,DNAJC30 | c.343C>G (p.Leu115Val) n.57G>C | gnomAD v4 |
7 | g.73683081G= | CA1717166306 | BUD23,DNAJC30 | c.343C= (p.Leu115=) n.57G= | |
7 | g.73683081G>T | CA367826915 | BUD23,DNAJC30 | c.343C>A (p.Leu115Ile) n.57G>T | |
7 | g.73683082T>A | CA456053023 | BUD23,DNAJC30 | c.342A>T (p.Leu114=) n.58T>A | |
7 | g.73683082T>C | CA456053022 | BUD23,DNAJC30 | c.342A>G (p.Leu114=) n.58T>C | gnomAD v4 |
7 | g.73683082T>G | CA456053021 | BUD23,DNAJC30 | c.342A>C (p.Leu114=) n.58T>G | |
7 | g.73683083A>C | CA367826917 | BUD23,DNAJC30 | c.341T>G (p.Leu114Arg) n.59A>C | |
7 | g.73683083A>G | CA367826919 | BUD23,DNAJC30 | c.341T>C (p.Leu114Pro) n.59A>G | |
7 | g.73683083A>T | CA367826920 | BUD23,DNAJC30 | c.341T>A (p.Leu114Gln) n.59A>T | |
7 | g.73683084G>A | CA456053024 | BUD23,DNAJC30 | c.340C>T (p.Leu114=) n.60G>A | |
7 | g.73683084G>C | CA367826924 | BUD23,DNAJC30 | c.340C>G (p.Leu114Val) n.60G>C | |
7 | g.73683084G>T | CA367826923 | BUD23,DNAJC30 | c.340C>A (p.Leu114Ile) n.60G>T | |
7 | g.73683085G>A | CA456053028 | BUD23,DNAJC30 | c.339C>T (p.Gly113=) n.61G>A | |
7 | g.73683085G>C | CA456053027 | BUD23,DNAJC30 | c.339C>G (p.Gly113=) n.61G>C | |
7 | g.73683085G= | CA1717166307 | BUD23,DNAJC30 | c.339C= (p.Gly113=) n.61G= | |
7 | g.73683085G>T | CA456053026 | BUD23,DNAJC30 | c.339C>A (p.Gly113=) n.61G>T | dbSNP gnomAD v4 |
7 | g.73683086C>A | CA367826926 | BUD23,DNAJC30 | c.338G>T (p.Gly113Val) n.62C>A | gnomAD v4 |
7 | g.73683086C= | CA1717166308 | BUD23,DNAJC30 | c.338G= (p.Gly113=) n.62C= | |
7 | g.73683086C>G | CA367826928 | BUD23,DNAJC30 | c.338G>C (p.Gly113Ala) n.62C>G | |
7 | g.73683086C>T | CA367826930 | BUD23,DNAJC30 | c.338G>A (p.Gly113Asp) n.62C>T | dbSNP gnomAD v4 |
7 | g.73683087C>A | CA367826932 | BUD23,DNAJC30 | c.337G>T (p.Gly113Cys) n.63C>A | gnomAD v4 |
7 | g.73683087C= | CA1717166309 | BUD23,DNAJC30 | c.337G= (p.Gly113=) n.63C= | |
7 | g.73683087C>G | CA367826934 | BUD23,DNAJC30 | c.337G>C (p.Gly113Arg) n.63C>G | |
7 | g.73683087C>T | CA367826936 | BUD23,DNAJC30 | c.337G>A (p.Gly113Ser) n.63C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683088G>A | CA456053034 | BUD23,DNAJC30 | c.336C>T (p.Arg112=) n.64G>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.73683088G>C | CA456053033 | BUD23,DNAJC30 | c.336C>G (p.Arg112=) n.64G>C | |
7 | g.73683088G= | CA1717166310 | BUD23,DNAJC30 | c.336C= (p.Arg112=) n.64G= | |
7 | g.73683088G>T | CA456053031 | BUD23,DNAJC30 | c.336C>A (p.Arg112=) n.64G>T | |
7 | g.73683089C>A | CA367826941 | BUD23,DNAJC30 | c.335G>T (p.Arg112Leu) n.65C>A | |
7 | g.73683089C= | CA1717166311 | BUD23,DNAJC30 | c.335G= (p.Arg112=) n.65C= | |
7 | g.73683089C>G | CA367826938 | BUD23,DNAJC30 | c.335G>C (p.Arg112Pro) n.65C>G | |
7 | g.73683089C>T | CA4289944 | BUD23,DNAJC30 | c.335G>A (p.Arg112His) n.65C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683090G>A | CA4289945 | BUD23,DNAJC30 | c.334C>T (p.Arg112Cys) n.66G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683090G>C | CA367826944 | BUD23,DNAJC30 | c.334C>G (p.Arg112Gly) n.66G>C | gnomAD v4 |
7 | g.73683090G= | CA1717166312 | BUD23,DNAJC30 | c.334C= (p.Arg112=) n.66G= | |
7 | g.73683090G>T | CA367826946 | BUD23,DNAJC30 | c.334C>A (p.Arg112Ser) n.66G>T | |
7 | g.73683091A>C | CA367826949 | BUD23,DNAJC30 | c.333T>G (p.Asp111Glu) n.67A>C | |
7 | g.73683091A>G | CA456053038 | BUD23,DNAJC30 | c.333T>C (p.Asp111=) n.67A>G | |
7 | g.73683091A>T | CA367826950 | BUD23,DNAJC30 | c.333T>A (p.Asp111Glu) n.67A>T | |
7 | g.73683092T>A | CA367826954 | BUD23,DNAJC30 | c.332A>T (p.Asp111Val) n.68T>A | |
7 | g.73683092T>C | CA367826957 | BUD23,DNAJC30 | c.332A>G (p.Asp111Gly) n.68T>C | |
7 | g.73683092T>G | CA367826955 | BUD23,DNAJC30 | c.332A>C (p.Asp111Ala) n.68T>G | |
7 | g.73683093C>A | CA367826959 | BUD23,DNAJC30 | c.331G>T (p.Asp111Tyr) n.69C>A | |
7 | g.73683093C>G | CA367826961 | BUD23,DNAJC30 | c.331G>C (p.Asp111His) n.69C>G | |
7 | g.73683093C>T | CA367826963 | BUD23,DNAJC30 | c.331G>A (p.Asp111Asn) n.69C>T | |
7 | g.73683094A= | CA1717166313 | BUD23,DNAJC30 | c.330T= (p.Tyr110=) n.70A= | |
7 | g.73683094A>C | CA367826965 | BUD23,DNAJC30 | c.330T>G (p.Tyr110Ter) n.70A>C | |
7 | g.73683094A>G | CA4289946 | BUD23,DNAJC30 | c.330T>C (p.Tyr110=) n.70A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683094A>T | CA367826968 | BUD23,DNAJC30 | c.330T>A (p.Tyr110Ter) n.70A>T | |
7 | g.73683095T>A | CA367826969 | BUD23,DNAJC30 | c.329A>T (p.Tyr110Phe) n.71T>A | |
7 | g.73683095T>C | CA367826970 | BUD23,DNAJC30 | c.329A>G (p.Tyr110Cys) n.71T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.73683095T>G | CA367826972 | BUD23,DNAJC30 | c.329A>C (p.Tyr110Ser) n.71T>G | |
7 | g.73683095T= | CA1717166314 | BUD23,DNAJC30 | c.329A= (p.Tyr110=) n.71T= | |
7 | g.73683096A= | CA1717166315 | BUD23,DNAJC30 | c.328T= (p.Tyr110=) n.72A= | |
7 | g.73683096A>C | CA367826974 | BUD23,DNAJC30 | c.328T>G (p.Tyr110Asp) n.72A>C | |
7 | g.73683096A>G | CA367826976 | BUD23,DNAJC30 | c.328T>C (p.Tyr110His) n.72A>G | |
7 | g.73683096A>T | CA4289947 | BUD23,DNAJC30 | c.328T>A (p.Tyr110Asn) n.72A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.73683096_73683097dup | CA2714961077 | BUD23,DNAJC30 | c.327_328dup (p.Tyr110CysfsTer?) n.72_73dup | dbSNP |
7 | g.73683097C>A | CA367826980 | BUD23,DNAJC30 | c.327G>T (p.Lys109Asn) n.73C>A | |
7 | g.73683097C= | CA1717166316 | BUD23,DNAJC30 | c.327G= (p.Lys109=) n.73C= | |
7 | g.73683097C>G | CA367826981 | BUD23,DNAJC30 | c.327G>C (p.Lys109Asn) n.73C>G | dbSNP gnomAD v3 gnomAD v4 |
7 | g.73683097C>T | CA456053044 | BUD23,DNAJC30 | c.327G>A (p.Lys109=) n.73C>T | dbSNP gnomAD v4 |
7 | g.73683098T>A | CA367826982 | BUD23,DNAJC30 | c.326A>T (p.Lys109Met) n.74T>A | |
7 | g.73683098T>C | CA367826986 | BUD23,DNAJC30 | c.326A>G (p.Lys109Arg) n.74T>C | |
7 | g.73683098T>G | CA367826984 | BUD23,DNAJC30 | c.326A>C (p.Lys109Thr) n.74T>G | |
7 | g.73683099T>A | CA367826988 | BUD23,DNAJC30 | c.325A>T (p.Lys109Ter) n.75T>A | |
7 | g.73683099T>C | CA367826992 | BUD23,DNAJC30 | c.325A>G (p.Lys109Glu) n.75T>C | |
7 | g.73683099T>G | CA367826990 | BUD23,DNAJC30 | c.325A>C (p.Lys109Gln) n.75T>G | |
7 | g.73683100G>A | CA456053050 | BUD23,DNAJC30 | c.324C>T (p.Arg108=) n.76G>A | |
7 | g.73683100G>C | CA456053049 | BUD23,DNAJC30 | c.324C>G (p.Arg108=) n.76G>C | |
7 | g.73683100G>T | CA456053048 | BUD23,DNAJC30 | c.324C>A (p.Arg108=) n.76G>T | gnomAD v4 |