Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.2496259G>A | CA493366524 | TBC1D24 | c.111G>A (p.Gln37=) n.293G>A | |
16 | g.2496259G>C | CA394374570 | TBC1D24 | c.111G>C (p.Gln37His) n.293G>C | |
16 | g.2496259G>T | CA394374571 | TBC1D24 | c.111G>T (p.Gln37His) n.293G>T | |
16 | g.2496260C>A | CA394374577 | TBC1D24 | c.112C>A (p.Leu38Met) n.294C>A | |
16 | g.2496260C>G | CA394374574 | TBC1D24 | c.112C>G (p.Leu38Val) n.294C>G | |
16 | g.2496260C>T | CA493366525 | TBC1D24 | c.112C>T (p.Leu38=) n.294C>T | |
16 | g.2496261T>A | CA394374579 | TBC1D24 | c.113T>A (p.Leu38Gln) n.295T>A | |
16 | g.2496261T>C | CA394374581 | TBC1D24 | c.113T>C (p.Leu38Pro) n.295T>C | |
16 | g.2496261T>G | CA394374583 | TBC1D24 | c.113T>G (p.Leu38Arg) n.295T>G | |
16 | g.2496262G>A | CA493366526 | TBC1D24 | c.114G>A (p.Leu38=) n.296G>A | |
16 | g.2496262G>C | CA493366527 | TBC1D24 | c.114G>C (p.Leu38=) n.296G>C | |
16 | g.2496262G>T | CA493366528 | TBC1D24 | c.114G>T (p.Leu38=) n.296G>T | |
16 | g.2496263G>A | CA7843922 | TBC1D24 | c.115G>A (p.Ala39Thr) n.297G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496263G>C | CA394374586 | TBC1D24 | c.115G>C (p.Ala39Pro) n.297G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496263G= | CA2202259704 | TBC1D24 | c.115G= (p.Ala39=) n.297G= | |
16 | g.2496263G>T | CA394374588 | TBC1D24 | c.115G>T (p.Ala39Ser) n.297G>T | |
16 | g.2496264C>A | CA7843923 | TBC1D24 | c.116C>A (p.Ala39Glu) n.298C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496264C= | CA2202259705 | TBC1D24 | c.116C= (p.Ala39=) n.298C= | |
16 | g.2496264C>G | CA394374590 | TBC1D24 | c.116C>G (p.Ala39Gly) n.298C>G | |
16 | g.2496264C>T | CA7843924 | TBC1D24 | c.116C>T (p.Ala39Val) n.298C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.2496265G>A | CA7843925 | TBC1D24 | c.117G>A (p.Ala39=) n.299G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496265G>C | CA493366529 | TBC1D24 | c.117G>C (p.Ala39=) n.299G>C | |
16 | g.2496265G= | CA2202259706 | TBC1D24 | c.117G= (p.Ala39=) n.299G= | |
16 | g.2496265G>T | CA493366530 | TBC1D24 | c.117G>T (p.Ala39=) n.299G>T | |
16 | g.2496266C>A | CA394374595 | TBC1D24 | c.118C>A (p.Arg40Ser) n.300C>A | |
16 | g.2496266C= | CA2202259707 | TBC1D24 | c.118C= (p.Arg40=) n.300C= | |
16 | g.2496266C>G | CA394374598 | TBC1D24 | c.118C>G (p.Arg40Gly) n.300C>G | dbSNP gnomAD v4 |
16 | g.2496266C>T | CA345418 | TBC1D24 | c.118C>T (p.Arg40Cys) n.300C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.2496267G>A | CA394374601 | TBC1D24 | c.119G>A (p.Arg40His) n.301G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496267G>C | CA7843926 | TBC1D24 | c.119G>C (p.Arg40Pro) n.301G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496267G= | CA2202259708 | TBC1D24 | c.119G= (p.Arg40=) n.301G= | |
16 | g.2496267G>T | CA347136 | TBC1D24 | c.119G>T (p.Arg40Leu) n.301G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496268C>A | CA493366531 | TBC1D24 | c.120C>A (p.Arg40=) n.302C>A | |
16 | g.2496268C>G | CA493366532 | TBC1D24 | c.120C>G (p.Arg40=) n.302C>G | |
16 | g.2496268C>T | CA493366533 | TBC1D24 | c.120C>T (p.Arg40=) n.302C>T | |
16 | g.2496269C>A | CA394374604 | TBC1D24 | c.121C>A (p.Gln41Lys) n.303C>A | |
16 | g.2496269C= | CA2202259709 | TBC1D24 | c.121C= (p.Gln41=) n.303C= | |
16 | g.2496269C>G | CA394374606 | TBC1D24 | c.121C>G (p.Gln41Glu) n.303C>G | |
16 | g.2496269C>T | CA16608135 | TBC1D24 | c.121C>T (p.Gln41Ter) n.303C>T | ClinVar dbSNP |
16 | g.2496270A>C | CA394374609 | TBC1D24 | c.122A>C (p.Gln41Pro) n.304A>C | |
16 | g.2496270A>G | CA394374610 | TBC1D24 | c.122A>G (p.Gln41Arg) n.304A>G | |
16 | g.2496270A>T | CA394374612 | TBC1D24 | c.122A>T (p.Gln41Leu) n.304A>T | |
16 | g.2496271G>A | CA493366534 | TBC1D24 | c.123G>A (p.Gln41=) n.305G>A | |
16 | g.2496271G>C | CA394374614 | TBC1D24 | c.123G>C (p.Gln41His) n.305G>C | |
16 | g.2496271G= | CA2202259710 | TBC1D24 | c.123G= (p.Gln41=) n.305G= | |
16 | g.2496271G>T | CA7843927 | TBC1D24 | c.123G>T (p.Gln41His) n.305G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496272G>A | CA394374618 | TBC1D24 | c.124G>A (p.Gly42Ser) n.306G>A | |
16 | g.2496272G>C | CA394374619 | TBC1D24 | c.124G>C (p.Gly42Arg) n.306G>C | |
16 | g.2496272G>T | CA394374620 | TBC1D24 | c.124G>T (p.Gly42Cys) n.306G>T | |
16 | g.2496273G>A | CA394374623 | TBC1D24 | c.125G>A (p.Gly42Asp) n.307G>A | gnomAD v4 |
16 | g.2496273G>C | CA394374625 | TBC1D24 | c.125G>C (p.Gly42Ala) n.307G>C | |
16 | g.2496273G>T | CA394374627 | TBC1D24 | c.125G>T (p.Gly42Val) n.307G>T | |
16 | g.2496274C>A | CA493366536 | TBC1D24 | c.126C>A (p.Gly42=) n.308C>A | |
16 | g.2496274C>G | CA493366537 | TBC1D24 | c.126C>G (p.Gly42=) n.308C>G | |
16 | g.2496274C>T | CA493366535 | TBC1D24 | c.126C>T (p.Gly42=) n.308C>T | |
16 | g.2496275T>A | CA394374632 | TBC1D24 | c.127T>A (p.Tyr43Asn) n.309T>A | |
16 | g.2496275T>C | CA394374634 | TBC1D24 | c.127T>C (p.Tyr43His) n.309T>C | |
16 | g.2496275T>G | CA394374630 | TBC1D24 | c.127T>G (p.Tyr43Asp) n.309T>G | |
16 | g.2496276A>C | CA394374640 | TBC1D24 | c.128A>C (p.Tyr43Ser) n.310A>C | gnomAD v4 |
16 | g.2496276A>G | CA394374636 | TBC1D24 | c.128A>G (p.Tyr43Cys) n.310A>G | |
16 | g.2496276A>T | CA394374638 | TBC1D24 | c.128A>T (p.Tyr43Phe) n.310A>T | |
16 | g.2496277C>A | CA394374642 | TBC1D24 | c.129C>A (p.Tyr43Ter) n.311C>A | |
16 | g.2496277C>G | CA394374644 | TBC1D24 | c.129C>G (p.Tyr43Ter) n.311C>G | |
16 | g.2496277C>T | CA493366538 | TBC1D24 | c.129C>T (p.Tyr43=) n.311C>T | |
16 | g.2496278T>A | CA394374647 | TBC1D24 | c.130T>A (p.Trp44Arg) n.312T>A | |
16 | g.2496278T>C | CA394374649 | TBC1D24 | c.130T>C (p.Trp44Arg) n.312T>C | ClinVar dbSNP |
16 | g.2496278T>G | CA394374651 | TBC1D24 | c.130T>G (p.Trp44Gly) n.312T>G | |
16 | g.2496278T= | CA2202259711 | TBC1D24 | c.130T= (p.Trp44=) n.312T= | |
16 | g.2496279G>A | CA394374654 | TBC1D24 | c.131G>A (p.Trp44Ter) n.313G>A | ClinVar dbSNP gnomAD v4 |
16 | g.2496279G>C | CA394374655 | TBC1D24 | c.131G>C (p.Trp44Ser) n.313G>C | |
16 | g.2496279G= | CA2202259712 | TBC1D24 | c.131G= (p.Trp44=) n.313G= | |
16 | g.2496279G>T | CA394374657 | TBC1D24 | c.131G>T (p.Trp44Leu) n.313G>T | |
16 | g.2496280G>A | CA7843928 | TBC1D24 | c.132G>A (p.Trp44Ter) n.314G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496280G>C | CA394374659 | TBC1D24 | c.132G>C (p.Trp44Cys) n.314G>C | dbSNP |
16 | g.2496280G= | CA2202259713 | TBC1D24 | c.132G= (p.Trp44=) n.314G= | |
16 | g.2496280G>T | CA394374661 | TBC1D24 | c.132G>T (p.Trp44Cys) n.314G>T | |
16 | g.2496281G>A | CA394374666 | TBC1D24 | c.133G>A (p.Ala45Thr) n.315G>A | |
16 | g.2496281G>C | CA394374664 | TBC1D24 | c.133G>C (p.Ala45Pro) n.315G>C | |
16 | g.2496281G>T | CA394374662 | TBC1D24 | c.133G>T (p.Ala45Ser) n.315G>T | gnomAD v4 |
16 | g.2496281_2496282delinsGC | CA2202259714 | TBC1D24 | c.133_134delinsGC (p.Ala45=) n.315_316delinsGC | |
16 | g.2496282C>A | CA394374668 | TBC1D24 | c.134C>A (p.Ala45Asp) n.316C>A | |
16 | g.2496282C= | CA2202259715 | TBC1D24 | c.134C= (p.Ala45=) n.316C= | |
16 | g.2496282C>G | CA394374670 | TBC1D24 | c.134C>G (p.Ala45Gly) n.316C>G | |
16 | g.2496282C>T | CA394374671 | TBC1D24 | c.134C>T (p.Ala45Val) n.316C>T | dbSNP |
16 | g.2496284del | CA719346151 | TBC1D24 | c.136del (p.Gln46LysfsTer13) c.136del (p.Gln46LysfsTer?) n.318del | dbSNP |
16 | g.2496283C>A | CA493366539 | TBC1D24 | c.135C>A (p.Ala45=) n.317C>A | |
16 | g.2496283C>G | CA493366540 | TBC1D24 | c.135C>G (p.Ala45=) n.317C>G | |
16 | g.2496283C>T | CA493366541 | TBC1D24 | c.135C>T (p.Ala45=) n.317C>T | gnomAD v4 |
16 | g.2496284C>A | CA394374674 | TBC1D24 | c.136C>A (p.Gln46Lys) n.318C>A | |
16 | g.2496284C>G | CA394374676 | TBC1D24 | c.136C>G (p.Gln46Glu) n.318C>G | |
16 | g.2496284C>T | CA394374678 | TBC1D24 | c.136C>T (p.Gln46Ter) n.318C>T | |
16 | g.2496285A>C | CA394374680 | TBC1D24 | c.137A>C (p.Gln46Pro) n.319A>C | |
16 | g.2496285A>G | CA394374682 | TBC1D24 | c.137A>G (p.Gln46Arg) n.319A>G | |
16 | g.2496285A>T | CA394374684 | TBC1D24 | c.137A>T (p.Gln46Leu) n.319A>T | |
16 | g.2496286A>C | CA394374686 | TBC1D24 | c.138A>C (p.Gln46His) n.320A>C | |
16 | g.2496286A>G | CA493366542 | TBC1D24 | c.138A>G (p.Gln46=) n.320A>G | |
16 | g.2496286A>T | CA394374687 | TBC1D24 | c.138A>T (p.Gln46His) n.320A>T | |
16 | g.2496287A>C | CA394374690 | TBC1D24 | c.139A>C (p.Ser47Arg) n.321A>C | |
16 | g.2496287A>G | CA394374692 | TBC1D24 | c.139A>G (p.Ser47Gly) n.321A>G | |
16 | g.2496287A>T | CA394374694 | TBC1D24 | c.139A>T (p.Ser47Cys) n.321A>T | |
16 | g.2496288G>A | CA394374698 | TBC1D24 | c.140G>A (p.Ser47Asn) n.322G>A | |
16 | g.2496288G>C | CA394374699 | TBC1D24 | c.140G>C (p.Ser47Thr) n.322G>C | |
16 | g.2496288G>T | CA394374696 | TBC1D24 | c.140G>T (p.Ser47Ile) n.322G>T | |
16 | g.2496289C>A | CA394374701 | TBC1D24 | c.141C>A (p.Ser47Arg) n.323C>A | |
16 | g.2496289C>G | CA394374703 | TBC1D24 | c.141C>G (p.Ser47Arg) n.323C>G | |
16 | g.2496289C>T | CA493366543 | TBC1D24 | c.141C>T (p.Ser47=) n.323C>T | |
16 | g.2496290C>A | CA394374705 | TBC1D24 | c.142C>A (p.His48Asn) n.324C>A | |
16 | g.2496290C>G | CA394374706 | TBC1D24 | c.142C>G (p.His48Asp) n.324C>G | |
16 | g.2496290C>T | CA394374708 | TBC1D24 | c.142C>T (p.His48Tyr) n.324C>T | gnomAD v4 |
16 | g.2496290_2496291insCACACCAAACACACCCAACAC | CA2805583147 | TBC1D24 | c.142_143insCACACCAAACACACCCAACAC (p.Ser47_His48insProHisGlnThrHisProThr) n.324_325insCACACCAAACACACCCAACAC | |
16 | g.2496291A= | CA2202259716 | TBC1D24 | c.143A= (p.His48=) n.325A= | |
16 | g.2496291A>C | CA394374709 | TBC1D24 | c.143A>C (p.His48Pro) n.325A>C | dbSNP |
16 | g.2496291A>G | CA394374711 | TBC1D24 | c.143A>G (p.His48Arg) n.325A>G | |
16 | g.2496291A>T | CA7843929 | TBC1D24 | c.143A>T (p.His48Leu) n.325A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496292C>A | CA394374713 | TBC1D24 | c.144C>A (p.His48Gln) n.326C>A | |
16 | g.2496292C= | CA2202259717 | TBC1D24 | c.144C= (p.His48=) n.326C= | |
16 | g.2496292C>G | CA7843931 | TBC1D24 | c.144C>G (p.His48Gln) n.326C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496292C>T | CA7843930 | TBC1D24 | c.144C>T (p.His48=) n.326C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496293G>A | CA7843932 | TBC1D24 | c.145G>A (p.Ala49Thr) n.327G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.2496293G>C | CA394374719 | TBC1D24 | c.145G>C (p.Ala49Pro) n.327G>C | gnomAD v4 |
16 | g.2496293G= | CA2202259718 | TBC1D24 | c.145G= (p.Ala49=) n.327G= | |
16 | g.2496293G>T | CA394374717 | TBC1D24 | c.145G>T (p.Ala49Ser) n.327G>T | gnomAD v4 |
16 | g.2496294C>A | CA394374722 | TBC1D24 | c.146C>A (p.Ala49Asp) n.328C>A | |
16 | g.2496294C= | CA2202259719 | TBC1D24 | c.146C= (p.Ala49=) n.328C= | |
16 | g.2496294C>G | CA394374724 | TBC1D24 | c.146C>G (p.Ala49Gly) n.328C>G | |
16 | g.2496294C>T | CA394374727 | TBC1D24 | c.146C>T (p.Ala49Val) n.328C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496295C>A | CA493366546 | TBC1D24 | c.147C>A (p.Ala49=) n.329C>A | |
16 | g.2496295C>G | CA493366544 | TBC1D24 | c.147C>G (p.Ala49=) n.329C>G | |
16 | g.2496295C>T | CA493366545 | TBC1D24 | c.147C>T (p.Ala49=) n.329C>T | |
16 | g.2496296C>A | CA394374728 | TBC1D24 | c.148C>A (p.Leu50Met) n.330C>A | |
16 | g.2496296C= | CA2202259720 | TBC1D24 | c.148C= (p.Leu50=) n.330C= | |
16 | g.2496296C>G | CA394374729 | TBC1D24 | c.148C>G (p.Leu50Val) n.330C>G | |
16 | g.2496296C>T | CA493366547 | TBC1D24 | c.148C>T (p.Leu50=) n.330C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496297T>A | CA394374731 | TBC1D24 | c.149T>A (p.Leu50Gln) n.331T>A | |
16 | g.2496297T>C | CA394374733 | TBC1D24 | c.149T>C (p.Leu50Pro) n.331T>C | |
16 | g.2496297T>G | CA394374735 | TBC1D24 | c.149T>G (p.Leu50Arg) n.331T>G | |
16 | g.2496298G>A | CA493366550 | TBC1D24 | c.150G>A (p.Leu50=) n.332G>A | |
16 | g.2496298G>C | CA493366549 | TBC1D24 | c.150G>C (p.Leu50=) n.332G>C | dbSNP |
16 | g.2496298G= | CA2202259721 | TBC1D24 | c.150G= (p.Leu50=) n.332G= | |
16 | g.2496298G>T | CA493366548 | TBC1D24 | c.150G>T (p.Leu50=) n.332G>T | |
16 | g.2496299C>A | CA493366551 | TBC1D24 | c.151C>A (p.Arg51=) n.333C>A | |
16 | g.2496299C= | CA2202259722 | TBC1D24 | c.151C= (p.Arg51=) n.333C= | |
16 | g.2496299C>G | CA394374737 | TBC1D24 | c.151C>G (p.Arg51Gly) n.333C>G | |
16 | g.2496299C>T | CA10648174 | TBC1D24 | c.151C>T (p.Arg51Trp) n.333C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496300G>A | CA7843933 | TBC1D24 | c.152G>A (p.Arg51Gln) n.334G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496300G>C | CA394374742 | TBC1D24 | c.152G>C (p.Arg51Pro) n.334G>C | |
16 | g.2496300G= | CA2202259723 | TBC1D24 | c.152G= (p.Arg51=) n.334G= | |
16 | g.2496300G>T | CA394374744 | TBC1D24 | c.152G>T (p.Arg51Leu) n.334G>T | gnomAD v4 |
16 | g.2496303del | CA2631209167 | TBC1D24 | c.155del (p.Gly52GlufsTer7) c.155del (p.Gly52GlufsTer?) n.337del | gnomAD v4 |
16 | g.2496301G>A | CA493366554 | TBC1D24 | c.153G>A (p.Arg51=) n.335G>A | |
16 | g.2496301G>C | CA493366552 | TBC1D24 | c.153G>C (p.Arg51=) n.335G>C | |
16 | g.2496301G>T | CA493366553 | TBC1D24 | c.153G>T (p.Arg51=) n.335G>T | gnomAD v4 |
16 | g.2496302G>A | CA7843935 | TBC1D24 | c.154G>A (p.Gly52Arg) n.336G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496302G>C | CA394374749 | TBC1D24 | c.154G>C (p.Gly52Arg) n.336G>C | |
16 | g.2496302G= | CA2202259724 | TBC1D24 | c.154G= (p.Gly52=) n.336G= | |
16 | g.2496302G>T | CA394374747 | TBC1D24 | c.154G>T (p.Gly52Ter) n.336G>T | |
16 | g.2496303G>A | CA7843936 | TBC1D24 | c.155G>A (p.Gly52Glu) n.337G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496303G>C | CA394374755 | TBC1D24 | c.155G>C (p.Gly52Ala) n.337G>C | |
16 | g.2496303G= | CA2202259726 | TBC1D24 | c.155G= (p.Gly52=) n.337G= | |
16 | g.2496303G>T | CA394374752 | TBC1D24 | c.155G>T (p.Gly52Val) n.337G>T | |
16 | g.2496303_2496304delinsGA | CA2202259725 | TBC1D24 | c.155_156delinsGA (p.Gly52=) n.337_338delinsGA | |
16 | g.2496303_2496305dup | CA7843934 | TBC1D24 | c.155_157dup (p.Gly52_Lys53insArg) n.337_339dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496304A>C | CA493366555 | TBC1D24 | c.156A>C (p.Gly52=) n.338A>C | |
16 | g.2496304A>G | CA493366556 | TBC1D24 | c.156A>G (p.Gly52=) n.338A>G | |
16 | g.2496304A>T | CA493366557 | TBC1D24 | c.156A>T (p.Gly52=) n.338A>T | |
16 | g.2496306del | CA620709055 | TBC1D24 | c.158del (p.Lys53ArgfsTer6) c.158del (p.Lys53ArgfsTer?) n.340del | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496305A>C | CA394374757 | TBC1D24 | c.157A>C (p.Lys53Gln) n.339A>C | |
16 | g.2496305A>G | CA394374759 | TBC1D24 | c.157A>G (p.Lys53Glu) n.339A>G | gnomAD v4 |
16 | g.2496305A>T | CA394374760 | TBC1D24 | c.157A>T (p.Lys53Ter) n.339A>T | |
16 | g.2496306A>C | CA394374762 | TBC1D24 | c.158A>C (p.Lys53Thr) n.340A>C | |
16 | g.2496306A>G | CA394374765 | TBC1D24 | c.158A>G (p.Lys53Arg) n.340A>G | |
16 | g.2496306A>T | CA394374766 | TBC1D24 | c.158A>T (p.Lys53Met) n.340A>T | |
16 | g.2496307G>A | CA493366558 | TBC1D24 | c.159G>A (p.Lys53=) n.341G>A | |
16 | g.2496307G>C | CA394374768 | TBC1D24 | c.159G>C (p.Lys53Asn) n.341G>C | |
16 | g.2496307G>T | CA394374770 | TBC1D24 | c.159G>T (p.Lys53Asn) n.341G>T | gnomAD v4 |
16 | g.2496308G>A | CA394374772 | TBC1D24 | c.160G>A (p.Val54Met) c.160G>A n.342G>A | |
16 | g.2496308G>C | CA394374774 | TBC1D24 | c.160G>C (p.Val54Leu) c.160G>C n.342G>C | |
16 | g.2496308G= | CA2202259727 | TBC1D24 | c.160G= (p.Val54=) c.160G= n.342G= | |
16 | g.2496308G>T | CA394374776 | TBC1D24 | c.160G>T (p.Val54Leu) c.160G>T n.342G>T | ClinVar dbSNP gnomAD v4 |
16 | g.2496309T>A | CA394374781 | TBC1D24 | c.161T>A (p.Val54Glu) c.161T>A n.343T>A | |
16 | g.2496309T>C | CA394374780 | TBC1D24 | c.161T>C (p.Val54Ala) c.161T>C n.343T>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496309T>G | CA394374779 | TBC1D24 | c.161T>G (p.Val54Gly) c.161T>G n.343T>G | |
16 | g.2496309T= | CA2202259728 | TBC1D24 | c.161T= (p.Val54=) c.161T= n.343T= | |
16 | g.2496310G>A | CA7843937 | TBC1D24 | c.162G>A (p.Val54=) n.344G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496310G>C | CA493366559 | TBC1D24 | c.162G>C (p.Val54=) n.344G>C | dbSNP |
16 | g.2496310G= | CA2202259729 | TBC1D24 | c.162G= (p.Val54=) n.344G= | |
16 | g.2496310G>T | CA493366560 | TBC1D24 | c.162G>T (p.Val54=) n.344G>T | |
16 | g.2496311T>A | CA394374785 | TBC1D24 | c.163T>A (p.Tyr55Asn) n.345T>A | |
16 | g.2496311T>C | CA394374787 | TBC1D24 | c.163T>C (p.Tyr55His) n.345T>C | |
16 | g.2496311T>G | CA394374790 | TBC1D24 | c.163T>G (p.Tyr55Asp) n.345T>G | |
16 | g.2496312A= | CA2202259730 | TBC1D24 | c.164A= (p.Tyr55=) n.346A= | |
16 | g.2496312A>C | CA394374791 | TBC1D24 | c.164A>C (p.Tyr55Ser) n.346A>C | dbSNP |
16 | g.2496312A>G | CA394374792 | TBC1D24 | c.164A>G (p.Tyr55Cys) n.346A>G | dbSNP gnomAD v4 |
16 | g.2496312A>T | CA394374794 | TBC1D24 | c.164A>T (p.Tyr55Phe) n.346A>T | |
16 | g.2496313C>A | CA394374796 | TBC1D24 | c.165C>A (p.Tyr55Ter) n.347C>A | |
16 | g.2496313C>G | CA394374797 | TBC1D24 | c.165C>G (p.Tyr55Ter) n.347C>G | |
16 | g.2496313C>T | CA493366561 | TBC1D24 | c.165C>T (p.Tyr55=) n.347C>T | |
16 | g.2496314C>A | CA394374799 | TBC1D24 | c.166C>A (p.Gln56Lys) n.348C>A | |
16 | g.2496314C>G | CA394374802 | TBC1D24 | c.166C>G (p.Gln56Glu) n.348C>G | |
16 | g.2496314C>T | CA394374804 | TBC1D24 | c.166C>T (p.Gln56Ter) n.348C>T | |
16 | g.2496315A>C | CA394374807 | TBC1D24 | c.167A>C (p.Gln56Pro) n.349A>C | |
16 | g.2496315A>G | CA394374809 | TBC1D24 | c.167A>G (p.Gln56Arg) n.349A>G | |
16 | g.2496315A>T | CA394374805 | TBC1D24 | c.167A>T (p.Gln56Leu) n.349A>T | ClinVar dbSNP gnomAD v4 |
16 | g.2496316G>A | CA493366562 | TBC1D24 | c.168G>A (p.Gln56=) n.350G>A | |
16 | g.2496316G>C | CA394374811 | TBC1D24 | c.168G>C (p.Gln56His) n.350G>C | |
16 | g.2496316G>T | CA394374813 | TBC1D24 | c.168G>T (p.Gln56His) n.350G>T | gnomAD v4 |
16 | g.2496317C>A | CA7843938 | TBC1D24 | c.169C>A (p.Arg57Ser) n.351C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496317C= | CA2202259731 | TBC1D24 | c.169C= (p.Arg57=) n.351C= | |
16 | g.2496317C>G | CA394374816 | TBC1D24 | c.169C>G (p.Arg57Gly) n.351C>G | |
16 | g.2496317C>T | CA241775 | TBC1D24 | c.169C>T (p.Arg57Cys) n.351C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496318G>A | CA7843939 | TBC1D24 | c.170G>A (p.Arg57His) n.352G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496318G>C | CA394374822 | TBC1D24 | c.170G>C (p.Arg57Pro) n.352G>C | |
16 | g.2496318G= | CA2202259732 | TBC1D24 | c.170G= (p.Arg57=) n.352G= | |
16 | g.2496318G>T | CA394374820 | TBC1D24 | c.170G>T (p.Arg57Leu) n.352G>T | gnomAD v4 |
16 | g.2496318_2496319delinsGC | CA2202259733 | TBC1D24 | c.170_171delinsGC (p.Arg57=) n.352_353delinsGC | |
16 | g.2496319C>A | CA493366565 | TBC1D24 | c.171C>A (p.Arg57=) n.353C>A | |
16 | g.2496319C>G | CA493366564 | TBC1D24 | c.171C>G (p.Arg57=) n.353C>G | |
16 | g.2496319C>T | CA493366563 | TBC1D24 | c.171C>T (p.Arg57=) n.353C>T | |
16 | g.2496320del | CA620709056 | TBC1D24 | c.172del (p.Leu58Ter) n.354del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496320C>A | CA7843940 | TBC1D24 | c.172C>A (p.Leu58Met) n.354C>A | dbSNP ExAC |
16 | g.2496320C= | CA2202259734 | TBC1D24 | c.172C= (p.Leu58=) n.354C= | |
16 | g.2496320C>G | CA394374826 | TBC1D24 | c.172C>G (p.Leu58Val) n.354C>G | |
16 | g.2496320C>T | CA493366566 | TBC1D24 | c.172C>T (p.Leu58=) n.354C>T | |
16 | g.2496321T>A | CA394374828 | TBC1D24 | c.173T>A (p.Leu58Gln) n.355T>A | |
16 | g.2496321T>C | CA394374829 | TBC1D24 | c.173T>C (p.Leu58Pro) n.355T>C | |
16 | g.2496321T>G | CA394374830 | TBC1D24 | c.173T>G (p.Leu58Arg) n.355T>G | |
16 | g.2496322G>A | CA7843941 | TBC1D24 | c.174G>A (p.Leu58=) n.356G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496322G>C | CA493366568 | TBC1D24 | c.174G>C (p.Leu58=) n.356G>C | |
16 | g.2496322G= | CA2202259735 | TBC1D24 | c.174G= (p.Leu58=) n.356G= | |
16 | g.2496322G>T | CA493366567 | TBC1D24 | c.174G>T (p.Leu58=) n.356G>T | |
16 | g.2496323A>C | CA394374833 | TBC1D24 | c.175A>C (p.Ile59Leu) n.357A>C | |
16 | g.2496323A>G | CA394374837 | TBC1D24 | c.175A>G (p.Ile59Val) n.357A>G | gnomAD v4 |
16 | g.2496323A>T | CA394374834 | TBC1D24 | c.175A>T (p.Ile59Phe) n.357A>T | |
16 | g.2496324T>A | CA394374839 | TBC1D24 | c.176T>A (p.Ile59Asn) n.358T>A | |
16 | g.2496324T>C | CA394374841 | TBC1D24 | c.176T>C (p.Ile59Thr) n.358T>C | gnomAD v4 |
16 | g.2496324T>G | CA394374843 | TBC1D24 | c.176T>G (p.Ile59Ser) n.358T>G | |
16 | g.2496325C>A | CA276809609 | TBC1D24 | c.177C>A (p.Ile59=) n.359C>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496325C= | CA2202259736 | TBC1D24 | c.177C= (p.Ile59=) n.359C= | |
16 | g.2496325C>G | CA394374845 | TBC1D24 | c.177C>G (p.Ile59Met) n.359C>G | ClinVar |
16 | g.2496325C>T | CA493366569 | TBC1D24 | c.177C>T (p.Ile59=) n.359C>T | gnomAD v4 |
16 | g.2496326C>A | CA493366570 | TBC1D24 | c.178C>A (p.Arg60=) n.360C>A | |
16 | g.2496326C= | CA2202259737 | TBC1D24 | c.178C= (p.Arg60=) n.360C= | |
16 | g.2496326C>G | CA394374846 | TBC1D24 | c.178C>G (p.Arg60Gly) n.360C>G | |
16 | g.2496326C>T | CA319072 | TBC1D24 | c.178C>T (p.Arg60Trp) n.360C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496327G>A | CA319074 | TBC1D24 | c.179G>A (p.Arg60Gln) n.361G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496327G>C | CA7843942 | TBC1D24 | c.179G>C (p.Arg60Pro) n.361G>C | ClinVar dbSNP ExAC |
16 | g.2496327G= | CA2202259738 | TBC1D24 | c.179G= (p.Arg60=) n.361G= | |
16 | g.2496327G>T | CA394374852 | TBC1D24 | c.179G>T (p.Arg60Leu) n.361G>T | |
16 | g.2496328G>A | CA493366571 | TBC1D24 | c.180G>A (p.Arg60=) n.362G>A | gnomAD v4 |
16 | g.2496328G>C | CA493366572 | TBC1D24 | c.180G>C (p.Arg60=) n.362G>C | |
16 | g.2496328G>T | CA493366573 | TBC1D24 | c.180G>T (p.Arg60=) n.362G>T | |
16 | g.2496329G>A | CA394374854 | TBC1D24 | c.181G>A (p.Asp61Asn) n.363G>A | gnomAD v4 |
16 | g.2496329G>C | CA394374856 | TBC1D24 | c.181G>C (p.Asp61His) n.363G>C | |
16 | g.2496329G>T | CA394374858 | TBC1D24 | c.181G>T (p.Asp61Tyr) n.363G>T | ClinVar |
16 | g.2496330A= | CA2202259739 | TBC1D24 | c.182A= (p.Asp61=) n.364A= | |
16 | g.2496330A>C | CA394374863 | TBC1D24 | c.182A>C (p.Asp61Ala) n.364A>C | |
16 | g.2496330A>G | CA394374865 | TBC1D24 | c.182A>G (p.Asp61Gly) n.364A>G | |
16 | g.2496330A>T | CA394374861 | TBC1D24 | c.182A>T (p.Asp61Val) n.364A>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496331C>A | CA394374867 | TBC1D24 | c.183C>A (p.Asp61Glu) n.365C>A | gnomAD v4 |
16 | g.2496331C= | CA2202259740 | TBC1D24 | c.183C= (p.Asp61=) n.365C= | |
16 | g.2496331C>G | CA394374870 | TBC1D24 | c.183C>G (p.Asp61Glu) n.365C>G | |
16 | g.2496331C>T | CA7843943 | TBC1D24 | c.183C>T (p.Asp61=) n.365C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496332A= | CA2202259741 | TBC1D24 | c.184A= (p.Ile62=) n.366A= | |
16 | g.2496332A>C | CA394374872 | TBC1D24 | c.184A>C (p.Ile62Leu) n.366A>C | |
16 | g.2496332A>G | CA7843944 | TBC1D24 | c.184A>G (p.Ile62Val) n.366A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496332A>T | CA394374877 | TBC1D24 | c.184A>T (p.Ile62Phe) n.366A>T | dbSNP |
16 | g.2496333T>A | CA394374881 | TBC1D24 | c.185T>A (p.Ile62Asn) n.367T>A | |
16 | g.2496333T>C | CA394374883 | TBC1D24 | c.185T>C (p.Ile62Thr) n.367T>C | |
16 | g.2496333T>G | CA394374886 | TBC1D24 | c.185T>G (p.Ile62Ser) n.367T>G | |
16 | g.2496334T>A | CA276809610 | TBC1D24 | c.186T>A (p.Ile62=) n.368T>A | dbSNP gnomAD v4 |
16 | g.2496334T>C | CA493366574 | TBC1D24 | c.186T>C (p.Ile62=) n.368T>C | dbSNP |
16 | g.2496334T>G | CA394374890 | TBC1D24 | c.186T>G (p.Ile62Met) n.368T>G | |
16 | g.2496334T= | CA2202259742 | TBC1D24 | c.186T= (p.Ile62=) n.368T= | |
16 | g.2496335C>A | CA394374894 | TBC1D24 | c.187C>A (p.Pro63Thr) n.369C>A | |
16 | g.2496335C= | CA2202259743 | TBC1D24 | c.187C= (p.Pro63=) n.369C= | |
16 | g.2496335C>G | CA394374897 | TBC1D24 | c.187C>G (p.Pro63Ala) n.369C>G | |
16 | g.2496335C>T | CA276809612 | TBC1D24 | c.187C>T (p.Pro63Ser) n.369C>T | ClinVar dbSNP |
16 | g.2496337dup | CA276809611 | TBC1D24 | c.189dup (p.Cys64LeufsTer7) n.371dup | dbSNP |
16 | g.2496336C>A | CA394374902 | TBC1D24 | c.188C>A (p.Pro63His) n.370C>A | |
16 | g.2496336C= | CA2202259744 | TBC1D24 | c.188C= (p.Pro63=) n.370C= | |
16 | g.2496336C>G | CA394374904 | TBC1D24 | c.188C>G (p.Pro63Arg) n.370C>G | dbSNP |
16 | g.2496336C>T | CA394374906 | TBC1D24 | c.188C>T (p.Pro63Leu) n.370C>T | gnomAD v4 |
16 | g.2496337C>A | CA493366575 | TBC1D24 | c.189C>A (p.Pro63=) n.371C>A | |
16 | g.2496337C= | CA2202259745 | TBC1D24 | c.189C= (p.Pro63=) n.371C= | |
16 | g.2496337C>G | CA493366576 | TBC1D24 | c.189C>G (p.Pro63=) n.371C>G | |
16 | g.2496337C>T | CA7843945 | TBC1D24 | c.189C>T (p.Pro63=) n.371C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496338T>A | CA394374910 | TBC1D24 | c.190T>A (p.Cys64Ser) n.372T>A | |
16 | g.2496338T>C | CA394374912 | TBC1D24 | c.190T>C (p.Cys64Arg) n.372T>C | |
16 | g.2496338T>G | CA394374914 | TBC1D24 | c.190T>G (p.Cys64Gly) n.372T>G | |
16 | g.2496339G>A | CA394374916 | TBC1D24 | c.191G>A (p.Cys64Tyr) n.373G>A | |
16 | g.2496339G>C | CA394374917 | TBC1D24 | c.191G>C (p.Cys64Ser) n.373G>C | |
16 | g.2496339G>T | CA394374918 | TBC1D24 | c.191G>T (p.Cys64Phe) n.373G>T | |
16 | g.2496340C>A | CA16620168 | TBC1D24 | c.192C>A (p.Cys64Ter) n.374C>A | ClinVar dbSNP gnomAD v4 |
16 | g.2496340C= | CA2202259746 | TBC1D24 | c.192C= (p.Cys64=) n.374C= | |
16 | g.2496340C>G | CA394374921 | TBC1D24 | c.192C>G (p.Cys64Trp) n.374C>G | |
16 | g.2496340C>T | CA10583389 | TBC1D24 | c.192C>T (p.Cys64=) n.374C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496341C>A | CA394374924 | TBC1D24 | c.193C>A (p.Arg65Ser) n.375C>A | |
16 | g.2496341C= | CA2202259747 | TBC1D24 | c.193C= (p.Arg65=) n.375C= | |
16 | g.2496341C>G | CA394374926 | TBC1D24 | c.193C>G (p.Arg65Gly) n.375C>G | |
16 | g.2496341C>T | CA7843946 | TBC1D24 | c.193C>T (p.Arg65Cys) n.375C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496342G>A | CA394374933 | TBC1D24 | c.194G>A (p.Arg65His) n.376G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496342G>C | CA394374931 | TBC1D24 | c.194G>C (p.Arg65Pro) n.376G>C | |
16 | g.2496342G= | CA2202259748 | TBC1D24 | c.194G= (p.Arg65=) n.376G= | |
16 | g.2496342G>T | CA10581511 | TBC1D24 | c.194G>T (p.Arg65Leu) n.376G>T | ClinVar dbSNP |
16 | g.2496343C>A | CA493366577 | TBC1D24 | c.195C>A (p.Arg65=) n.377C>A | |
16 | g.2496343C>G | CA493366578 | TBC1D24 | c.195C>G (p.Arg65=) n.377C>G | |
16 | g.2496343C>T | CA493366579 | TBC1D24 | c.195C>T (p.Arg65=) n.377C>T | |
16 | g.2496344A>C | CA394374939 | TBC1D24 | c.196A>C (p.Thr66Pro) n.378A>C | |
16 | g.2496344A>G | CA394374935 | TBC1D24 | c.196A>G (p.Thr66Ala) n.378A>G | |
16 | g.2496344A>T | CA394374937 | TBC1D24 | c.196A>T (p.Thr66Ser) n.378A>T | |
16 | g.2496345C>A | CA394374942 | TBC1D24 | c.197C>A (p.Thr66Lys) n.379C>A | |
16 | g.2496345C= | CA2202259749 | TBC1D24 | c.197C= (p.Thr66=) n.379C= | |
16 | g.2496345C>G | CA394374944 | TBC1D24 | c.197C>G (p.Thr66Arg) n.379C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496345C>T | CA7843947 | TBC1D24 | c.197C>T (p.Thr66Met) n.379C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496346G>A | CA7843948 | TBC1D24 | c.198G>A (p.Thr66=) n.380G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496346G>C | CA493366580 | TBC1D24 | c.198G>C (p.Thr66=) n.380G>C | |
16 | g.2496346G= | CA2202259750 | TBC1D24 | c.198G= (p.Thr66=) n.380G= | |
16 | g.2496346G>T | CA493366581 | TBC1D24 | c.198G>T (p.Thr66=) n.380G>T | |
16 | g.2496347G>A | CA394374949 | TBC1D24 | c.199G>A (p.Val67Ile) n.381G>A | |
16 | g.2496347G>C | CA7843949 | TBC1D24 | c.199G>C (p.Val67Leu) n.381G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496347G= | CA2202259751 | TBC1D24 | c.199G= (p.Val67=) n.381G= | |
16 | g.2496347G>T | CA394374951 | TBC1D24 | c.199G>T (p.Val67Phe) n.381G>T | |
16 | g.2496348T>A | CA394374954 | TBC1D24 | c.200T>A (p.Val67Asp) n.382T>A | |
16 | g.2496348T>C | CA394374956 | TBC1D24 | c.200T>C (p.Val67Ala) n.382T>C | |
16 | g.2496348T>G | CA394374958 | TBC1D24 | c.200T>G (p.Val67Gly) n.382T>G | |
16 | g.2496349C>A | CA493366583 | TBC1D24 | c.201C>A (p.Val67=) n.383C>A | |
16 | g.2496349C>G | CA493366584 | TBC1D24 | c.201C>G (p.Val67=) n.383C>G | |
16 | g.2496349C>T | CA493366582 | TBC1D24 | c.201C>T (p.Val67=) n.383C>T | |
16 | g.2496350A>C | CA394374961 | TBC1D24 | c.202A>C (p.Thr68Pro) n.384A>C | |
16 | g.2496350A>G | CA394374963 | TBC1D24 | c.202A>G (p.Thr68Ala) n.384A>G | |
16 | g.2496350A>T | CA394374960 | TBC1D24 | c.202A>T (p.Thr68Ser) n.384A>T | |
16 | g.2496351C>A | CA394374965 | TBC1D24 | c.203C>A (p.Thr68Lys) n.385C>A | |
16 | g.2496351C= | CA2202259752 | TBC1D24 | c.203C= (p.Thr68=) n.385C= | |
16 | g.2496351C>G | CA394374967 | TBC1D24 | c.203C>G (p.Thr68Arg) n.385C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496351C>T | CA276809613 | TBC1D24 | c.203C>T (p.Thr68Met) n.385C>T | dbSNP gnomAD v4 COSMIC |
16 | g.2496352G>A | CA293860 | TBC1D24 | c.204G>A (p.Thr68=) n.386G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496352G>C | CA493366585 | TBC1D24 | c.204G>C (p.Thr68=) n.386G>C | |
16 | g.2496352G= | CA2202259753 | TBC1D24 | c.204G= (p.Thr68=) n.386G= | |
16 | g.2496352G>T | CA493366586 | TBC1D24 | c.204G>T (p.Thr68=) n.386G>T | |
16 | g.2496353C>A | CA394374974 | TBC1D24 | c.205C>A (p.Pro69Thr) n.387C>A | |
16 | g.2496353C>G | CA394374973 | TBC1D24 | c.205C>G (p.Pro69Ala) n.387C>G | |
16 | g.2496353C>T | CA394374970 | TBC1D24 | c.205C>T (p.Pro69Ser) n.387C>T | |
16 | g.2496354C>A | CA394374977 | TBC1D24 | c.206C>A (p.Pro69His) n.388C>A | |
16 | g.2496354C= | CA2202259754 | TBC1D24 | c.206C= (p.Pro69=) n.388C= | |
16 | g.2496354C>G | CA394374979 | TBC1D24 | c.206C>G (p.Pro69Arg) n.388C>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496354C>T | CA394374981 | TBC1D24 | c.206C>T (p.Pro69Leu) n.388C>T | |
16 | g.2496355T>A | CA493366587 | TBC1D24 | c.207T>A (p.Pro69=) n.389T>A | |
16 | g.2496355T>C | CA289066 | TBC1D24 | c.207T>C (p.Pro69=) n.389T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496355T>G | CA493366588 | TBC1D24 | c.207T>G (p.Pro69=) n.389T>G | |
16 | g.2496355T= | CA2202259755 | TBC1D24 | c.207T= (p.Pro69=) n.389T= | |
16 | g.2496356G>A | CA394374983 | TBC1D24 | c.208G>A (p.Asp70Asn) n.390G>A | |
16 | g.2496356G>C | CA394374985 | TBC1D24 | c.208G>C (p.Asp70His) n.390G>C | COSMIC |
16 | g.2496356G= | CA2202259756 | TBC1D24 | c.208G= (p.Asp70=) n.390G= | |
16 | g.2496356G>T | CA345451 | TBC1D24 | c.208G>T (p.Asp70Tyr) n.390G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496357A>C | CA394374991 | TBC1D24 | c.209A>C (p.Asp70Ala) n.391A>C | gnomAD v4 |
16 | g.2496357A>G | CA394374993 | TBC1D24 | c.209A>G (p.Asp70Gly) n.391A>G | |
16 | g.2496357A>T | CA394374989 | TBC1D24 | c.209A>T (p.Asp70Val) n.391A>T | |
16 | g.2496358C>A | CA394374994 | TBC1D24 | c.210C>A (p.Asp70Glu) n.392C>A | ClinVar dbSNP gnomAD v4 |
16 | g.2496358C= | CA2202259757 | TBC1D24 | c.210C= (p.Asp70=) n.392C= | |
16 | g.2496358C>G | CA394374997 | TBC1D24 | c.210C>G (p.Asp70Glu) n.392C>G | |
16 | g.2496358C>T | CA7843950 | TBC1D24 | c.210C>T (p.Asp70=) n.392C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496359G>A | CA7843951 | TBC1D24 | c.211G>A (p.Ala71Thr) n.393G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496359G>C | CA394375000 | TBC1D24 | c.211G>C (p.Ala71Pro) n.393G>C | |
16 | g.2496359G= | CA2202259758 | TBC1D24 | c.211G= (p.Ala71=) n.393G= | |
16 | g.2496359G>T | CA394375001 | TBC1D24 | c.211G>T (p.Ala71Ser) n.393G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |