Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
16 | g.2496360C>A | CA394375003 | TBC1D24 | c.212C>A (p.Ala71Asp) n.394C>A | |
16 | g.2496360C>G | CA394375005 | TBC1D24 | c.212C>G (p.Ala71Gly) n.394C>G | |
16 | g.2496360C>T | CA394375007 | TBC1D24 | c.212C>T (p.Ala71Val) n.394C>T | |
16 | g.2496361C>A | CA493366589 | TBC1D24 | c.213C>A (p.Ala71=) n.395C>A | |
16 | g.2496361C= | CA2202259759 | TBC1D24 | c.213C= (p.Ala71=) n.395C= | |
16 | g.2496361C>G | CA493366590 | TBC1D24 | c.213C>G (p.Ala71=) n.395C>G | |
16 | g.2496361C>T | CA7843952 | TBC1D24 | c.213C>T (p.Ala71=) n.395C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496362A>C | CA394375011 | TBC1D24 | c.214A>C (p.Ser72Arg) n.396A>C | |
16 | g.2496362A>G | CA394375013 | TBC1D24 | c.214A>G (p.Ser72Gly) n.396A>G | |
16 | g.2496362A>T | CA394375015 | TBC1D24 | c.214A>T (p.Ser72Cys) n.396A>T | |
16 | g.2496363G>A | CA394375020 | TBC1D24 | c.215G>A (p.Ser72Asn) n.397G>A | ClinVar dbSNP |
16 | g.2496363G>C | CA394375019 | TBC1D24 | c.215G>C (p.Ser72Thr) n.397G>C | |
16 | g.2496363G>T | CA394375017 | TBC1D24 | c.215G>T (p.Ser72Ile) n.397G>T | |
16 | g.2496364C>A | CA394375022 | TBC1D24 | c.216C>A (p.Ser72Arg) n.398C>A | |
16 | g.2496364C= | CA2202259760 | TBC1D24 | c.216C= (p.Ser72=) n.398C= | |
16 | g.2496364C>G | CA394375024 | TBC1D24 | c.216C>G (p.Ser72Arg) n.398C>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496364C>T | CA7843953 | TBC1D24 | c.216C>T (p.Ser72=) n.398C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496365G>A | CA7843954 | TBC1D24 | c.217G>A (p.Val73Met) n.399G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496365G>C | CA394375027 | TBC1D24 | c.217G>C (p.Val73Leu) n.399G>C | |
16 | g.2496365G= | CA2202259761 | TBC1D24 | c.217G= (p.Val73=) n.399G= | |
16 | g.2496365G>T | CA394375029 | TBC1D24 | c.217G>T (p.Val73Leu) n.399G>T | dbSNP gnomAD v4 |
16 | g.2496366T>A | CA394375033 | TBC1D24 | c.218T>A (p.Val73Glu) n.400T>A | |
16 | g.2496366T>C | CA394375035 | TBC1D24 | c.218T>C (p.Val73Ala) n.400T>C | |
16 | g.2496366T>G | CA394375037 | TBC1D24 | c.218T>G (p.Val73Gly) n.400T>G | |
16 | g.2496367G>A | CA493366591 | TBC1D24 | c.219G>A (p.Val73=) n.401G>A | |
16 | g.2496367G>C | CA493366592 | TBC1D24 | c.219G>C (p.Val73=) n.401G>C | |
16 | g.2496367G>T | CA493366593 | TBC1D24 | c.219G>T (p.Val73=) n.401G>T | gnomAD v4 |
16 | g.2496368T>A | CA394375039 | TBC1D24 | c.220T>A (p.Tyr74Asn) n.402T>A | |
16 | g.2496368T>C | CA394375040 | TBC1D24 | c.220T>C (p.Tyr74His) n.402T>C | |
16 | g.2496368T>G | CA394375042 | TBC1D24 | c.220T>G (p.Tyr74Asp) n.402T>G | |
16 | g.2496369A= | CA2202259762 | TBC1D24 | c.221A= (p.Tyr74=) n.403A= | |
16 | g.2496369A>C | CA394375047 | TBC1D24 | c.221A>C (p.Tyr74Ser) n.403A>C | |
16 | g.2496369A>G | CA7843955 | TBC1D24 | c.221A>G (p.Tyr74Cys) n.403A>G | dbSNP ExAC gnomAD v2 |
16 | g.2496369A>T | CA394375045 | TBC1D24 | c.221A>T (p.Tyr74Phe) n.403A>T | |
16 | g.2496370C>A | CA394375050 | TBC1D24 | c.222C>A (p.Tyr74Ter) n.404C>A | dbSNP |
16 | g.2496370C>G | CA394375052 | TBC1D24 | c.222C>G (p.Tyr74Ter) n.404C>G | |
16 | g.2496370C>T | CA493366594 | TBC1D24 | c.222C>T (p.Tyr74=) n.404C>T | |
16 | g.2496371A= | CA2202259763 | TBC1D24 | c.223A= (p.Ser75=) n.405A= | |
16 | g.2496371A>C | CA394375055 | TBC1D24 | c.223A>C (p.Ser75Arg) n.405A>C | |
16 | g.2496371A>G | CA394375057 | TBC1D24 | c.223A>G (p.Ser75Gly) n.405A>G | dbSNP |
16 | g.2496371A>T | CA394375059 | TBC1D24 | c.223A>T (p.Ser75Cys) n.405A>T | |
16 | g.2496372G>A | CA394375066 | TBC1D24 | c.224G>A (p.Ser75Asn) n.406G>A | |
16 | g.2496372G>C | CA394375064 | TBC1D24 | c.224G>C (p.Ser75Thr) n.406G>C | |
16 | g.2496372G>T | CA394375062 | TBC1D24 | c.224G>T (p.Ser75Ile) n.406G>T | |
16 | g.2496373C>A | CA394375068 | TBC1D24 | c.225C>A (p.Ser75Arg) n.407C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496373C= | CA2202259764 | TBC1D24 | c.225C= (p.Ser75=) n.407C= | |
16 | g.2496373C>G | CA394375070 | TBC1D24 | c.225C>G (p.Ser75Arg) n.407C>G | |
16 | g.2496373C>T | CA7843956 | TBC1D24 | c.225C>T (p.Ser75=) n.407C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496374G>A | CA276809614 | TBC1D24 | c.226G>A (p.Asp76Asn) n.408G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496374G>C | CA394375073 | TBC1D24 | c.226G>C (p.Asp76His) n.408G>C | |
16 | g.2496374G= | CA2202259765 | TBC1D24 | c.226G= (p.Asp76=) n.408G= | |
16 | g.2496374G>T | CA394375075 | TBC1D24 | c.226G>T (p.Asp76Tyr) n.408G>T | |
16 | g.2496375A>C | CA394375078 | TBC1D24 | c.227A>C (p.Asp76Ala) n.409A>C | |
16 | g.2496375A>G | CA394375082 | TBC1D24 | c.227A>G (p.Asp76Gly) n.409A>G | ClinVar |
16 | g.2496375A>T | CA394375079 | TBC1D24 | c.227A>T (p.Asp76Val) n.409A>T | |
16 | g.2496376_2496387del | CA2631209326 | TBC1D24 | c.228_239del (p.Asp76_Lys80delinsGlu) n.410_421del | gnomAD v4 |
16 | g.2496376C>A | CA394375083 | TBC1D24 | c.228C>A (p.Asp76Glu) n.410C>A | |
16 | g.2496376C= | CA2202259767 | TBC1D24 | c.228C= (p.Asp76=) n.410C= | |
16 | g.2496376C>G | CA394375084 | TBC1D24 | c.228C>G (p.Asp76Glu) n.410C>G | |
16 | g.2496376C>T | CA493366595 | TBC1D24 | c.228C>T (p.Asp76=) n.410C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496376_2496388delinsCATCGTGGGCAAG | CA2202259766 | TBC1D24 | c.228_240delinsCATCGTGGGCAAG (p.Asp76=) n.410_422delinsCATCGTGGGCAAG | |
16 | g.2496377A= | CA2202259768 | TBC1D24 | c.229A= (p.Ile77=) n.411A= | |
16 | g.2496377A>C | CA394375086 | TBC1D24 | c.229A>C (p.Ile77Leu) n.411A>C | |
16 | g.2496377A>G | CA394375088 | TBC1D24 | c.229A>G (p.Ile77Val) n.411A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496377A>T | CA394375090 | TBC1D24 | c.229A>T (p.Ile77Phe) n.411A>T | ClinVar |
16 | g.2496389_2496400dup | CA973806073 | TBC1D24 | c.241_252dup (p.Lys84_His85insIleValGlyLys) n.423_434dup | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496389_2496400del | CA7843957 | TBC1D24 | c.241_252del (p.Ile81_Lys84del) n.423_434del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496378T>A | CA394375094 | TBC1D24 | c.230T>A (p.Ile77Asn) n.412T>A | |
16 | g.2496378T>C | CA394375096 | TBC1D24 | c.230T>C (p.Ile77Thr) n.412T>C | gnomAD v4 |
16 | g.2496378T>G | CA394375098 | TBC1D24 | c.230T>G (p.Ile77Ser) n.412T>G | |
16 | g.2496379C>A | CA493366596 | TBC1D24 | c.231C>A (p.Ile77=) n.413C>A | COSMIC |
16 | g.2496379C= | CA2202259769 | TBC1D24 | c.231C= (p.Ile77=) n.413C= | |
16 | g.2496379C>G | CA394375100 | TBC1D24 | c.231C>G (p.Ile77Met) n.413C>G | |
16 | g.2496379C>T | CA7843958 | TBC1D24 | c.231C>T (p.Ile77=) n.413C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496380G>A | CA7843959 | TBC1D24 | c.232G>A (p.Val78Met) n.414G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496380G>C | CA394375108 | TBC1D24 | c.232G>C (p.Val78Leu) n.414G>C | |
16 | g.2496380G= | CA2202259770 | TBC1D24 | c.232G= (p.Val78=) n.414G= | |
16 | g.2496380G>T | CA394375106 | TBC1D24 | c.232G>T (p.Val78Leu) n.414G>T | |
16 | g.2496381T>A | CA394375111 | TBC1D24 | c.233T>A (p.Val78Glu) n.415T>A | |
16 | g.2496381T>C | CA394375114 | TBC1D24 | c.233T>C (p.Val78Ala) n.415T>C | |
16 | g.2496381T>G | CA394375112 | TBC1D24 | c.233T>G (p.Val78Gly) n.415T>G | |
16 | g.2496382G>A | CA493366602 | TBC1D24 | c.234G>A (p.Val78=) n.416G>A | gnomAD v4 |
16 | g.2496382G>C | CA493366603 | TBC1D24 | c.234G>C (p.Val78=) n.416G>C | |
16 | g.2496382G>T | CA493366604 | TBC1D24 | c.234G>T (p.Val78=) n.416G>T |