Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
16 | g.2496383G>A | CA394375116 | TBC1D24 | c.235G>A (p.Gly79Ser) n.417G>A | |
16 | g.2496383G>C | CA394375118 | TBC1D24 | c.235G>C (p.Gly79Arg) n.417G>C | |
16 | g.2496383G>T | CA394375120 | TBC1D24 | c.235G>T (p.Gly79Cys) n.417G>T | |
16 | g.2496384G>A | CA394375122 | TBC1D24 | c.236G>A (p.Gly79Asp) n.418G>A | gnomAD v4 |
16 | g.2496384G>C | CA394375124 | TBC1D24 | c.236G>C (p.Gly79Ala) n.418G>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496384G= | CA2202259771 | TBC1D24 | c.236G= (p.Gly79=) n.418G= | |
16 | g.2496384G>T | CA394375126 | TBC1D24 | c.236G>T (p.Gly79Val) n.418G>T | |
16 | g.2496385C>A | CA493366607 | TBC1D24 | c.237C>A (p.Gly79=) n.419C>A | |
16 | g.2496385C>G | CA493366608 | TBC1D24 | c.237C>G (p.Gly79=) n.419C>G | |
16 | g.2496385C>T | CA493366609 | TBC1D24 | c.237C>T (p.Gly79=) n.419C>T | gnomAD v4 |
16 | g.2496386A>C | CA394375128 | TBC1D24 | c.238A>C (p.Lys80Gln) n.420A>C | |
16 | g.2496386A>G | CA394375130 | TBC1D24 | c.238A>G (p.Lys80Glu) n.420A>G | |
16 | g.2496386A>T | CA394375132 | TBC1D24 | c.238A>T (p.Lys80Ter) n.420A>T | |
16 | g.2496387A>C | CA394375133 | TBC1D24 | c.239A>C (p.Lys80Thr) n.421A>C | |
16 | g.2496387A>G | CA394375134 | TBC1D24 | c.239A>G (p.Lys80Arg) n.421A>G | |
16 | g.2496387A>T | CA394375135 | TBC1D24 | c.239A>T (p.Lys80Met) n.421A>T | |
16 | g.2496388G>A | CA493366611 | TBC1D24 | c.240G>A (p.Lys80=) n.422G>A | |
16 | g.2496388G>C | CA394375137 | TBC1D24 | c.240G>C (p.Lys80Asn) n.422G>C | COSMIC |
16 | g.2496388G>T | CA394375139 | TBC1D24 | c.240G>T (p.Lys80Asn) n.422G>T | |
16 | g.2496389A>C | CA394375143 | TBC1D24 | c.241A>C (p.Ile81Leu) n.423A>C | |
16 | g.2496389A>G | CA394375142 | TBC1D24 | c.241A>G (p.Ile81Val) n.423A>G | |
16 | g.2496389A>T | CA394375141 | TBC1D24 | c.241A>T (p.Ile81Phe) n.423A>T | |
16 | g.2496390T>A | CA394375145 | TBC1D24 | c.242T>A (p.Ile81Asn) n.424T>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496390T>C | CA394375146 | TBC1D24 | c.242T>C (p.Ile81Thr) n.424T>C | ClinVar dbSNP |
16 | g.2496390T>G | CA394375147 | TBC1D24 | c.242T>G (p.Ile81Ser) n.424T>G | |
16 | g.2496390T= | CA2202259772 | TBC1D24 | c.242T= (p.Ile81=) n.424T= | |
16 | g.2496391C>A | CA493366613 | TBC1D24 | c.243C>A (p.Ile81=) n.425C>A | |
16 | g.2496391C= | CA2202259773 | TBC1D24 | c.243C= (p.Ile81=) n.425C= | |
16 | g.2496391C>G | CA394375149 | TBC1D24 | c.243C>G (p.Ile81Met) n.425C>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496391C>T | CA16608137 | TBC1D24 | c.243C>T (p.Ile81=) n.425C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496392G>A | CA7843960 | TBC1D24 | c.244G>A (p.Val82Met) n.426G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496392G>C | CA7843961 | TBC1D24 | c.244G>C (p.Val82Leu) n.426G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496392G= | CA2202259774 | TBC1D24 | c.244G= (p.Val82=) n.426G= | |
16 | g.2496392G>T | CA319011 | TBC1D24 | c.244G>T (p.Val82Leu) n.426G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496393T>A | CA394375154 | TBC1D24 | c.245T>A (p.Val82Glu) n.427T>A | |
16 | g.2496393T>C | CA394375156 | TBC1D24 | c.245T>C (p.Val82Ala) n.427T>C | |
16 | g.2496393T>G | CA394375158 | TBC1D24 | c.245T>G (p.Val82Gly) n.427T>G | |
16 | g.2496393T= | CA2202259775 | TBC1D24 | c.245T= (p.Val82=) n.427T= | |
16 | g.2496394G>A | CA493366615 | TBC1D24 | c.246G>A (p.Val82=) n.428G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496394G>C | CA493366616 | TBC1D24 | c.246G>C (p.Val82=) n.428G>C | |
16 | g.2496394G= | CA2202259776 | TBC1D24 | c.246G= (p.Val82=) n.428G= | |
16 | g.2496394G>T | CA493366617 | TBC1D24 | c.246G>T (p.Val82=) n.428G>T | gnomAD v4 |
16 | g.2496396dup | CA276809615 | TBC1D24 | c.248dup (p.Lys84GlnfsTer?) n.430dup | dbSNP |
16 | g.2496395G>A | CA394375160 | TBC1D24 | c.247G>A (p.Gly83Ser) n.429G>A | |
16 | g.2496395G>C | CA394375162 | TBC1D24 | c.247G>C (p.Gly83Arg) n.429G>C | gnomAD v4 |
16 | g.2496395G>T | CA394375164 | TBC1D24 | c.247G>T (p.Gly83Cys) n.429G>T | ClinVar gnomAD v4 |
16 | g.2496396G>A | CA394375170 | TBC1D24 | c.248G>A (p.Gly83Asp) n.430G>A | COSMIC |
16 | g.2496396G>C | CA394375172 | TBC1D24 | c.248G>C (p.Gly83Ala) n.430G>C | |
16 | g.2496396G= | CA2202259777 | TBC1D24 | c.248G= (p.Gly83=) n.430G= | |
16 | g.2496396G>T | CA394375168 | TBC1D24 | c.248G>T (p.Gly83Val) n.430G>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496397C>A | CA493366620 | TBC1D24 | c.249C>A (p.Gly83=) n.431C>A | |
16 | g.2496397C>G | CA493366621 | TBC1D24 | c.249C>G (p.Gly83=) n.431C>G | |
16 | g.2496397C>T | CA493366622 | TBC1D24 | c.249C>T (p.Gly83=) n.431C>T | |
16 | g.2496398A>C | CA394375175 | TBC1D24 | c.250A>C (p.Lys84Gln) n.432A>C | |
16 | g.2496398A>G | CA394375176 | TBC1D24 | c.250A>G (p.Lys84Glu) n.432A>G | COSMIC |
16 | g.2496398A>T | CA394375177 | TBC1D24 | c.250A>T (p.Lys84Ter) n.432A>T | |
16 | g.2496399A>C | CA394375178 | TBC1D24 | c.251A>C (p.Lys84Thr) n.433A>C | |
16 | g.2496399A>G | CA394375180 | TBC1D24 | c.251A>G (p.Lys84Arg) n.433A>G | |
16 | g.2496399A>T | CA394375182 | TBC1D24 | c.251A>T (p.Lys84Met) n.433A>T | |
16 | g.2496400G>A | CA493366624 | TBC1D24 | c.252G>A (p.Lys84=) n.434G>A | |
16 | g.2496400G>C | CA394375184 | TBC1D24 | c.252G>C (p.Lys84Asn) n.434G>C | gnomAD v4 |
16 | g.2496400G>T | CA394375186 | TBC1D24 | c.252G>T (p.Lys84Asn) n.434G>T | |
16 | g.2496401C>A | CA394375189 | TBC1D24 | c.253C>A (p.His85Asn) n.435C>A | |
16 | g.2496401C= | CA2202259778 | TBC1D24 | c.253C= (p.His85=) n.435C= | |
16 | g.2496401C>G | CA394375191 | TBC1D24 | c.253C>G (p.His85Asp) n.435C>G | ClinVar dbSNP |
16 | g.2496401C>T | CA394375193 | TBC1D24 | c.253C>T (p.His85Tyr) n.435C>T | ClinVar dbSNP |
16 | g.2496402A>C | CA394375195 | TBC1D24 | c.254A>C (p.His85Pro) n.436A>C | |
16 | g.2496402A>G | CA394375197 | TBC1D24 | c.254A>G (p.His85Arg) n.436A>G | |
16 | g.2496402A>T | CA394375199 | TBC1D24 | c.254A>T (p.His85Leu) n.436A>T | |
16 | g.2496403C>A | CA394375202 | TBC1D24 | c.255C>A (p.His85Gln) n.437C>A | |
16 | g.2496403C= | CA2202259779 | TBC1D24 | c.255C= (p.His85=) n.437C= | |
16 | g.2496403C>G | CA394375204 | TBC1D24 | c.255C>G (p.His85Gln) n.437C>G | |
16 | g.2496403C>T | CA493366626 | TBC1D24 | c.255C>T (p.His85=) n.437C>T | dbSNP |
16 | g.2496404A= | CA2202259780 | TBC1D24 | c.256A= (p.Ser86=) n.438A= | |
16 | g.2496404A>C | CA394375206 | TBC1D24 | c.256A>C (p.Ser86Arg) n.438A>C | |
16 | g.2496404A>G | CA394375208 | TBC1D24 | c.256A>G (p.Ser86Gly) n.438A>G | |
16 | g.2496404A>T | CA394375210 | TBC1D24 | c.256A>T (p.Ser86Cys) n.438A>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496405G>A | CA394375212 | TBC1D24 | c.257G>A (p.Ser86Asn) n.439G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496405G>C | CA394375214 | TBC1D24 | c.257G>C (p.Ser86Thr) n.439G>C | |
16 | g.2496405G= | CA2202259781 | TBC1D24 | c.257G= (p.Ser86=) n.439G= | |
16 | g.2496405G>T | CA394375215 | TBC1D24 | c.257G>T (p.Ser86Ile) n.439G>T | |
16 | g.2496406C>A | CA394375216 | TBC1D24 | c.258C>A (p.Ser86Arg) n.440C>A | |
16 | g.2496406C>G | CA394375218 | TBC1D24 | c.258C>G (p.Ser86Arg) n.440C>G | |
16 | g.2496406C>T | CA493366629 | TBC1D24 | c.258C>T (p.Ser86=) n.440C>T | gnomAD v4 |
16 | g.2496407A= | CA2202259782 | TBC1D24 | c.259A= (p.Ser87=) n.441A= | |
16 | g.2496407A>C | CA394375220 | TBC1D24 | c.259A>C (p.Ser87Arg) n.441A>C | |
16 | g.2496407A>G | CA394375222 | TBC1D24 | c.259A>G (p.Ser87Gly) n.441A>G | ClinVar dbSNP gnomAD v4 |
16 | g.2496407A>T | CA394375224 | TBC1D24 | c.259A>T (p.Ser87Cys) n.441A>T | |
16 | g.2496408G>A | CA394375226 | TBC1D24 | c.260G>A (p.Ser87Asn) n.442G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496408G>C | CA394375229 | TBC1D24 | c.260G>C (p.Ser87Thr) n.442G>C | |
16 | g.2496408G= | CA2202259783 | TBC1D24 | c.260G= (p.Ser87=) n.442G= | |
16 | g.2496408G>T | CA394375227 | TBC1D24 | c.260G>T (p.Ser87Ile) n.442G>T | |
16 | g.2496409C>A | CA394375231 | TBC1D24 | c.261C>A (p.Ser87Arg) n.443C>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496409C= | CA2202259784 | TBC1D24 | c.261C= (p.Ser87=) n.443C= | |
16 | g.2496409C>G | CA394375233 | TBC1D24 | c.261C>G (p.Ser87Arg) n.443C>G | dbSNP |
16 | g.2496409C>T | CA493366631 | TBC1D24 | c.261C>T (p.Ser87=) n.443C>T | |
16 | g.2496410A>C | CA394375236 | TBC1D24 | c.262A>C (p.Ser88Arg) n.444A>C | |
16 | g.2496410A>G | CA394375238 | TBC1D24 | c.262A>G (p.Ser88Gly) n.444A>G | |
16 | g.2496410A>T | CA394375240 | TBC1D24 | c.262A>T (p.Ser88Cys) n.444A>T | |
16 | g.2496411G>A | CA394375242 | TBC1D24 | c.263G>A (p.Ser88Asn) n.445G>A | ClinVar dbSNP COSMIC |
16 | g.2496411G>C | CA394375244 | TBC1D24 | c.263G>C (p.Ser88Thr) n.445G>C | |
16 | g.2496411G= | CA2202259785 | TBC1D24 | c.263G= (p.Ser88=) n.445G= | |
16 | g.2496411G>T | CA394375246 | TBC1D24 | c.263G>T (p.Ser88Ile) n.445G>T | gnomAD v4 |
16 | g.2496411_2496416del | CA2590078327 | TBC1D24 | c.263_268del (p.Ser88_Leu90delinsMet) n.445_450del | dbSNP gnomAD v3 gnomAD v4 |