Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.2496460C>A | CA394375472 | TBC1D24 | c.312C>A (p.Tyr104Ter) n.494C>A | |
16 | g.2496460C= | CA2202259805 | TBC1D24 | c.312C= (p.Tyr104=) n.494C= | |
16 | g.2496460C>G | CA394375469 | TBC1D24 | c.312C>G (p.Tyr104Ter) n.494C>G | |
16 | g.2496460C>T | CA7843971 | TBC1D24 | c.312C>T (p.Tyr104=) n.494C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496461T>A | CA394375475 | TBC1D24 | c.313T>A (p.Cys105Ser) n.495T>A | |
16 | g.2496461T>C | CA347138 | TBC1D24 | c.313T>C (p.Cys105Arg) n.495T>C | ClinVar dbSNP |
16 | g.2496461T>G | CA394375476 | TBC1D24 | c.313T>G (p.Cys105Gly) n.495T>G | |
16 | g.2496461T= | CA2202259806 | TBC1D24 | c.313T= (p.Cys105=) n.495T= | |
16 | g.2496462G>A | CA394375478 | TBC1D24 | c.314G>A (p.Cys105Tyr) n.496G>A | gnomAD v4 |
16 | g.2496462G>C | CA394375480 | TBC1D24 | c.314G>C (p.Cys105Ser) n.496G>C | |
16 | g.2496462G>T | CA394375481 | TBC1D24 | c.314G>T (p.Cys105Phe) n.496G>T | |
16 | g.2496463C>A | CA394375482 | TBC1D24 | c.315C>A (p.Cys105Ter) n.497C>A | |
16 | g.2496463C>G | CA394375484 | TBC1D24 | c.315C>G (p.Cys105Trp) n.497C>G | |
16 | g.2496463C>T | CA493366693 | TBC1D24 | c.315C>T (p.Cys105=) n.497C>T | |
16 | g.2496464C>A | CA394375485 | TBC1D24 | c.316C>A (p.Leu106Met) n.498C>A | |
16 | g.2496464C>G | CA394375488 | TBC1D24 | c.316C>G (p.Leu106Val) n.498C>G | |
16 | g.2496464C>T | CA493366695 | TBC1D24 | c.316C>T (p.Leu106=) n.498C>T | gnomAD v4 |
16 | g.2496465T>A | CA394375490 | TBC1D24 | c.317T>A (p.Leu106Gln) n.499T>A | ClinVar |
16 | g.2496465T>C | CA394375492 | TBC1D24 | c.317T>C (p.Leu106Pro) n.499T>C | gnomAD v4 |
16 | g.2496465T>G | CA394375494 | TBC1D24 | c.317T>G (p.Leu106Arg) n.499T>G | |
16 | g.2496466G>A | CA493366696 | TBC1D24 | c.318G>A (p.Leu106=) n.500G>A | |
16 | g.2496466G>C | CA493366698 | TBC1D24 | c.318G>C (p.Leu106=) n.500G>C | |
16 | g.2496466G>T | CA493366697 | TBC1D24 | c.318G>T (p.Leu106=) n.500G>T | gnomAD v4 |
16 | g.2496467A>C | CA394375500 | TBC1D24 | c.319A>C (p.Asn107His) n.501A>C | |
16 | g.2496467A>G | CA394375498 | TBC1D24 | c.319A>G (p.Asn107Asp) n.501A>G | |
16 | g.2496467A>T | CA394375496 | TBC1D24 | c.319A>T (p.Asn107Tyr) n.501A>T | |
16 | g.2496468A>C | CA394375502 | TBC1D24 | c.320A>C (p.Asn107Thr) n.502A>C | |
16 | g.2496468A>G | CA394375504 | TBC1D24 | c.320A>G (p.Asn107Ser) n.502A>G | |
16 | g.2496468A>T | CA394375505 | TBC1D24 | c.320A>T (p.Asn107Ile) n.502A>T | |
16 | g.2496469T>A | CA16608138 | TBC1D24 | c.321T>A (p.Asn107Lys) n.503T>A | ClinVar dbSNP gnomAD v4 |
16 | g.2496469T>C | CA493366700 | TBC1D24 | c.321T>C (p.Asn107=) n.503T>C | ClinVar |
16 | g.2496469T>G | CA394375506 | TBC1D24 | c.321T>G (p.Asn107Lys) n.503T>G | |
16 | g.2496469T= | CA2202259807 | TBC1D24 | c.321T= (p.Asn107=) n.503T= | |
16 | g.2496470G>A | CA394375508 | TBC1D24 | c.322G>A (p.Ala108Thr) n.504G>A | |
16 | g.2496470G>C | CA394375511 | TBC1D24 | c.322G>C (p.Ala108Pro) n.504G>C | |
16 | g.2496470G>T | CA394375513 | TBC1D24 | c.322G>T (p.Ala108Ser) n.504G>T | |
16 | g.2496471C>A | CA394375515 | TBC1D24 | c.323C>A (p.Ala108Glu) n.505C>A | |
16 | g.2496471C>G | CA394375517 | TBC1D24 | c.323C>G (p.Ala108Gly) n.505C>G | |
16 | g.2496471C>T | CA394375519 | TBC1D24 | c.323C>T (p.Ala108Val) n.505C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496472A>C | CA493366701 | TBC1D24 | c.324A>C (p.Ala108=) n.506A>C | gnomAD v4 |
16 | g.2496472A>G | CA493366703 | TBC1D24 | c.324A>G (p.Ala108=) n.506A>G | |
16 | g.2496472A>T | CA493366704 | TBC1D24 | c.324A>T (p.Ala108=) n.506A>T | |
16 | g.2496473C>A | CA394375522 | TBC1D24 | c.325C>A (p.Arg109Ser) n.507C>A | ClinVar |
16 | g.2496473C= | CA2202259808 | TBC1D24 | c.325C= (p.Arg109=) n.507C= | |
16 | g.2496473C>G | CA7843972 | TBC1D24 | c.325C>G (p.Arg109Gly) n.507C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496473C>T | CA7843973 | TBC1D24 | c.325C>T (p.Arg109Cys) n.507C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.2496474G>A | CA7843974 | TBC1D24 | c.326G>A (p.Arg109His) n.508G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496474G>C | CA394375529 | TBC1D24 | c.326G>C (p.Arg109Pro) n.508G>C | |
16 | g.2496474G= | CA2202259809 | TBC1D24 | c.326G= (p.Arg109=) n.508G= | |
16 | g.2496474G>T | CA394375525 | TBC1D24 | c.326G>T (p.Arg109Leu) n.508G>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496475C>A | CA7843975 | TBC1D24 | c.327C>A (p.Arg109=) n.509C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496475C= | CA2202259810 | TBC1D24 | c.327C= (p.Arg109=) n.509C= | |
16 | g.2496475C>G | CA493366705 | TBC1D24 | c.327C>G (p.Arg109=) n.509C>G | gnomAD v4 |
16 | g.2496475C>T | CA7843976 | TBC1D24 | c.327C>T (p.Arg109=) n.509C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496476G>A | CA347140 | TBC1D24 | c.328G>A (p.Gly110Ser) n.510G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496476G>C | CA394375534 | TBC1D24 | c.328G>C (p.Gly110Arg) n.510G>C | |
16 | g.2496476G= | CA2202259811 | TBC1D24 | c.328G= (p.Gly110=) n.510G= | |
16 | g.2496476G>T | CA394375536 | TBC1D24 | c.328G>T (p.Gly110Cys) n.510G>T | |
16 | g.2496477G>A | CA394375538 | TBC1D24 | c.329G>A (p.Gly110Asp) n.511G>A | |
16 | g.2496477G>C | CA394375539 | TBC1D24 | c.329G>C (p.Gly110Ala) n.511G>C | |
16 | g.2496477G>T | CA394375541 | TBC1D24 | c.329G>T (p.Gly110Val) n.511G>T | |
16 | g.2496478C>A | CA493366706 | TBC1D24 | c.330C>A (p.Gly110=) n.512C>A | gnomAD v4 |
16 | g.2496478C= | CA2202259812 | TBC1D24 | c.330C= (p.Gly110=) n.512C= | |
16 | g.2496478C>G | CA493366707 | TBC1D24 | c.330C>G (p.Gly110=) n.512C>G | |
16 | g.2496478C>T | CA7843977 | TBC1D24 | c.330C>T (p.Gly110=) n.512C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496479G>A | CA7843978 | TBC1D24 | c.331G>A (p.Glu111Lys) n.513G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496479G>C | CA394375544 | TBC1D24 | c.331G>C (p.Glu111Gln) n.513G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496479G= | CA2202259813 | TBC1D24 | c.331G= (p.Glu111=) n.513G= | |
16 | g.2496479G>T | CA394375546 | TBC1D24 | c.331G>T (p.Glu111Ter) n.513G>T | gnomAD v4 |
16 | g.2496480A>C | CA394375553 | TBC1D24 | c.332A>C (p.Glu111Ala) n.514A>C | |
16 | g.2496480A>G | CA394375551 | TBC1D24 | c.332A>G (p.Glu111Gly) n.514A>G | |
16 | g.2496480A>T | CA394375549 | TBC1D24 | c.332A>T (p.Glu111Val) n.514A>T | |
16 | g.2496481G>A | CA7843979 | TBC1D24 | c.333G>A (p.Glu111=) n.515G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496481G>C | CA394375555 | TBC1D24 | c.333G>C (p.Glu111Asp) n.515G>C | |
16 | g.2496481G= | CA2202259814 | TBC1D24 | c.333G= (p.Glu111=) n.515G= | |
16 | g.2496481G>T | CA394375558 | TBC1D24 | c.333G>T (p.Glu111Asp) n.515G>T | ClinVar |
16 | g.2496485dup | CA2740096857 | TBC1D24 | c.337dup (p.Ala113GlyfsTer?) n.519dup | ClinVar |
16 | g.2496485del | CA2631209600 | TBC1D24 | c.337del (p.Ala113ProfsTer?) n.519del | gnomAD v4 |
16 | g.2496482G>A | CA394375560 | TBC1D24 | c.334G>A (p.Gly112Arg) n.516G>A | |
16 | g.2496482G>C | CA394375562 | TBC1D24 | c.334G>C (p.Gly112Arg) n.516G>C | gnomAD v4 COSMIC |
16 | g.2496482G>T | CA394375564 | TBC1D24 | c.334G>T (p.Gly112Trp) n.516G>T | gnomAD v4 |
16 | g.2496483G>A | CA394375566 | TBC1D24 | c.335G>A (p.Gly112Glu) n.517G>A | ClinVar gnomAD v4 |
16 | g.2496483G>C | CA394375568 | TBC1D24 | c.335G>C (p.Gly112Ala) n.517G>C | |
16 | g.2496483G>T | CA394375570 | TBC1D24 | c.335G>T (p.Gly112Val) n.517G>T | gnomAD v4 |
16 | g.2496484G>A | CA493366709 | TBC1D24 | c.336G>A (p.Gly112=) n.518G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496484G>C | CA493366710 | TBC1D24 | c.336G>C (p.Gly112=) n.518G>C | |
16 | g.2496484G= | CA2202259815 | TBC1D24 | c.336G= (p.Gly112=) n.518G= | |
16 | g.2496484G>T | CA493366712 | TBC1D24 | c.336G>T (p.Gly112=) n.518G>T | |
16 | g.2496485G>A | CA394375573 | TBC1D24 | c.337G>A (p.Ala113Thr) n.519G>A | dbSNP gnomAD v2 |
16 | g.2496485G>C | CA394375575 | TBC1D24 | c.337G>C (p.Ala113Pro) n.519G>C | gnomAD v4 |
16 | g.2496485G= | CA2202259816 | TBC1D24 | c.337G= (p.Ala113=) n.519G= | |
16 | g.2496485G>T | CA394375577 | TBC1D24 | c.337G>T (p.Ala113Ser) n.519G>T | |
16 | g.2496486C>A | CA053198 | TBC1D24 | c.338C>A (p.Ala113Asp) n.520C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496486C= | CA2202259817 | TBC1D24 | c.338C= (p.Ala113=) n.520C= | |
16 | g.2496486C>G | CA394375582 | TBC1D24 | c.338C>G (p.Ala113Gly) n.520C>G | |
16 | g.2496486C>T | CA394375580 | TBC1D24 | c.338C>T (p.Ala113Val) n.520C>T | gnomAD v4 |
16 | g.2496487C>A | CA493366713 | TBC1D24 | c.339C>A (p.Ala113=) n.521C>A | ClinVar |
16 | g.2496487C= | CA2202259818 | TBC1D24 | c.339C= (p.Ala113=) n.521C= | |
16 | g.2496487C>G | CA493366714 | TBC1D24 | c.339C>G (p.Ala113=) n.521C>G | |
16 | g.2496487C>T | CA493366715 | TBC1D24 | c.339C>T (p.Ala113=) n.521C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496488G>A | CA319013 | TBC1D24 | c.340G>A (p.Val114Met) n.522G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.2496488G>C | CA394375586 | TBC1D24 | c.340G>C (p.Val114Leu) n.522G>C | |
16 | g.2496488G= | CA2202259819 | TBC1D24 | c.340G= (p.Val114=) n.522G= | |
16 | g.2496488G>T | CA394375583 | TBC1D24 | c.340G>T (p.Val114Leu) n.522G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496489T>A | CA394375589 | TBC1D24 | c.341T>A (p.Val114Glu) n.523T>A | |
16 | g.2496489T>C | CA394375592 | TBC1D24 | c.341T>C (p.Val114Ala) n.523T>C | |
16 | g.2496489T>G | CA394375591 | TBC1D24 | c.341T>G (p.Val114Gly) n.523T>G | dbSNP |
16 | g.2496489T= | CA2202259820 | TBC1D24 | c.341T= (p.Val114=) n.523T= | |
16 | g.2496490G>A | CA493366717 | TBC1D24 | c.342G>A (p.Val114=) n.524G>A | dbSNP |
16 | g.2496490G>C | CA493366718 | TBC1D24 | c.342G>C (p.Val114=) n.524G>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496490G= | CA2202259821 | TBC1D24 | c.342G= (p.Val114=) n.524G= | |
16 | g.2496490G>T | CA493366719 | TBC1D24 | c.342G>T (p.Val114=) n.524G>T | gnomAD v4 |
16 | g.2496491C>A | CA394375594 | TBC1D24 | c.343C>A (p.Arg115Ser) n.525C>A | |
16 | g.2496491C= | CA2202259822 | TBC1D24 | c.343C= (p.Arg115=) n.525C= | |
16 | g.2496491C>G | CA394375598 | TBC1D24 | c.343C>G (p.Arg115Gly) n.525C>G | dbSNP gnomAD v4 |
16 | g.2496491C>T | CA319015 | TBC1D24 | c.343C>T (p.Arg115Cys) n.525C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496492G>A | CA319018 | TBC1D24 | c.344G>A (p.Arg115His) n.526G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496492G>C | CA394375603 | TBC1D24 | c.344G>C (p.Arg115Pro) n.526G>C | |
16 | g.2496492G= | CA2202259823 | TBC1D24 | c.344G= (p.Arg115=) n.526G= | |
16 | g.2496492G>T | CA7843980 | TBC1D24 | c.344G>T (p.Arg115Leu) n.526G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496493C>A | CA493366721 | TBC1D24 | c.345C>A (p.Arg115=) n.527C>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496493C= | CA2202259824 | TBC1D24 | c.345C= (p.Arg115=) n.527C= | |
16 | g.2496493C>G | CA493366722 | TBC1D24 | c.345C>G (p.Arg115=) n.527C>G | |
16 | g.2496493C>T | CA493366723 | TBC1D24 | c.345C>T (p.Arg115=) n.527C>T | |
16 | g.2496494A= | CA2202259825 | TBC1D24 | c.346A= (p.Lys116=) n.528A= | |
16 | g.2496494A>C | CA394375606 | TBC1D24 | c.346A>C (p.Lys116Gln) n.528A>C | |
16 | g.2496494A>G | CA394375608 | TBC1D24 | c.346A>G (p.Lys116Glu) n.528A>G | |
16 | g.2496494A>T | CA394375609 | TBC1D24 | c.346A>T (p.Lys116Ter) n.528A>T | ClinVar dbSNP |
16 | g.2496495A= | CA2202259826 | TBC1D24 | c.347A= (p.Lys116=) n.529A= | |
16 | g.2496495A>C | CA394375610 | TBC1D24 | c.347A>C (p.Lys116Thr) n.529A>C | |
16 | g.2496495A>G | CA276809621 | TBC1D24 | c.347A>G (p.Lys116Arg) n.529A>G | dbSNP gnomAD v4 |
16 | g.2496495A>T | CA394375612 | TBC1D24 | c.347A>T (p.Lys116Met) n.529A>T | |
16 | g.2496496G>A | CA7843981 | TBC1D24 | c.348G>A (p.Lys116=) n.530G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496496G>C | CA394375614 | TBC1D24 | c.348G>C (p.Lys116Asn) n.530G>C | |
16 | g.2496496G= | CA2202259827 | TBC1D24 | c.348G= (p.Lys116=) n.530G= | |
16 | g.2496496G>T | CA394375615 | TBC1D24 | c.348G>T (p.Lys116Asn) n.530G>T | ClinVar gnomAD v4 |
16 | g.2496497A>C | CA394375616 | TBC1D24 | c.349A>C (p.Ile117Leu) n.531A>C | |
16 | g.2496497A>G | CA394375618 | TBC1D24 | c.349A>G (p.Ile117Val) n.531A>G | |
16 | g.2496497A>T | CA394375620 | TBC1D24 | c.349A>T (p.Ile117Phe) n.531A>T | |
16 | g.2496498T>A | CA394375626 | TBC1D24 | c.350T>A (p.Ile117Asn) n.532T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496498T>C | CA394375624 | TBC1D24 | c.350T>C (p.Ile117Thr) n.532T>C | |
16 | g.2496498T>G | CA394375622 | TBC1D24 | c.350T>G (p.Ile117Ser) n.532T>G | |
16 | g.2496498T= | CA2202259828 | TBC1D24 | c.350T= (p.Ile117=) n.532T= | |
16 | g.2496499C>A | CA493366725 | TBC1D24 | c.351C>A (p.Ile117=) n.533C>A | |
16 | g.2496499C>G | CA394375627 | TBC1D24 | c.351C>G (p.Ile117Met) n.533C>G | |
16 | g.2496499C>T | CA493366726 | TBC1D24 | c.351C>T (p.Ile117=) n.533C>T | COSMIC |
16 | g.2496500del | CA2580091023 | TBC1D24 | c.352del (p.Leu118SerfsTer?) n.534del | ClinVar gnomAD v4 |
16 | g.2496500C>A | CA394375628 | TBC1D24 | c.352C>A (p.Leu118Ile) n.534C>A | |
16 | g.2496500C= | CA2202259829 | TBC1D24 | c.352C= (p.Leu118=) n.534C= | |
16 | g.2496500C>G | CA7843982 | TBC1D24 | c.352C>G (p.Leu118Val) n.534C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496500C>T | CA394375630 | TBC1D24 | c.352C>T (p.Leu118Phe) n.534C>T | ClinVar |
16 | g.2496501T>A | CA394375632 | TBC1D24 | c.353T>A (p.Leu118His) n.535T>A | |
16 | g.2496501T>C | CA394375633 | TBC1D24 | c.353T>C (p.Leu118Pro) n.535T>C | |
16 | g.2496501T>G | CA394375634 | TBC1D24 | c.353T>G (p.Leu118Arg) n.535T>G | |
16 | g.2496502C>A | CA493366728 | TBC1D24 | c.354C>A (p.Leu118=) n.536C>A | |
16 | g.2496502C>G | CA493366729 | TBC1D24 | c.354C>G (p.Leu118=) n.536C>G | ClinVar dbSNP |
16 | g.2496502C>T | CA493366730 | TBC1D24 | c.354C>T (p.Leu118=) n.536C>T | |
16 | g.2496503C>A | CA394375636 | TBC1D24 | c.355C>A (p.Leu119Met) n.537C>A | |
16 | g.2496503C>G | CA394375637 | TBC1D24 | c.355C>G (p.Leu119Val) n.537C>G | |
16 | g.2496503C>T | CA493366732 | TBC1D24 | c.355C>T (p.Leu119=) n.537C>T | |
16 | g.2496504T>A | CA394375639 | TBC1D24 | c.356T>A (p.Leu119Gln) n.538T>A | |
16 | g.2496504T>C | CA394375641 | TBC1D24 | c.356T>C (p.Leu119Pro) n.538T>C | gnomAD v4 |
16 | g.2496504T>G | CA394375643 | TBC1D24 | c.356T>G (p.Leu119Arg) n.538T>G | |
16 | g.2496505del | CA2631209670 | TBC1D24 | c.357del (p.Cys120AlafsTer?) n.539del | gnomAD v4 |
16 | g.2496505G>A | CA493366733 | TBC1D24 | c.357G>A (p.Leu119=) n.539G>A | |
16 | g.2496505G>C | CA493366734 | TBC1D24 | c.357G>C (p.Leu119=) n.539G>C | gnomAD v4 |
16 | g.2496505G= | CA2202259830 | TBC1D24 | c.357G= (p.Leu119=) n.539G= | |
16 | g.2496505G>T | CA493366735 | TBC1D24 | c.357G>T (p.Leu119=) n.539G>T | dbSNP |
16 | g.2496506T>A | CA394375645 | TBC1D24 | c.358T>A (p.Cys120Ser) n.540T>A | |
16 | g.2496506T>C | CA276809622 | TBC1D24 | c.358T>C (p.Cys120Arg) n.540T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496506T>G | CA394375647 | TBC1D24 | c.358T>G (p.Cys120Gly) n.540T>G | |
16 | g.2496506T= | CA2202259831 | TBC1D24 | c.358T= (p.Cys120=) n.540T= | |
16 | g.2496507G>A | CA394375651 | TBC1D24 | c.359G>A (p.Cys120Tyr) n.541G>A | |
16 | g.2496507G>C | CA394375652 | TBC1D24 | c.359G>C (p.Cys120Ser) n.541G>C | |
16 | g.2496507G>T | CA394375653 | TBC1D24 | c.359G>T (p.Cys120Phe) n.541G>T | gnomAD v4 |
16 | g.2496508C>A | CA7843983 | TBC1D24 | c.360C>A (p.Cys120Ter) n.542C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496508C= | CA2202259832 | TBC1D24 | c.360C= (p.Cys120=) n.542C= | |
16 | g.2496508C>G | CA394375656 | TBC1D24 | c.360C>G (p.Cys120Trp) n.542C>G | |
16 | g.2496508C>T | CA493366597 | TBC1D24 | c.360C>T (p.Cys120=) n.542C>T | gnomAD v4 |
16 | g.2496509C>A | CA394375658 | TBC1D24 | c.361C>A (p.Leu121Met) n.543C>A | |
16 | g.2496509C= | CA2202259833 | TBC1D24 | c.361C= (p.Leu121=) n.543C= | |
16 | g.2496509C>G | CA394375660 | TBC1D24 | c.361C>G (p.Leu121Val) n.543C>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496509C>T | CA493366598 | TBC1D24 | c.361C>T (p.Leu121=) n.543C>T | |
16 | g.2496510T>A | CA394375662 | TBC1D24 | c.362T>A (p.Leu121Gln) n.544T>A | |
16 | g.2496510T>C | CA394375663 | TBC1D24 | c.362T>C (p.Leu121Pro) n.544T>C | |
16 | g.2496510T>G | CA394375665 | TBC1D24 | c.362T>G (p.Leu121Arg) n.544T>G | |
16 | g.2496511G>A | CA493366599 | TBC1D24 | c.363G>A (p.Leu121=) n.545G>A | |
16 | g.2496511G>C | CA493366600 | TBC1D24 | c.363G>C (p.Leu121=) n.545G>C | |
16 | g.2496511G>T | CA493366601 | TBC1D24 | c.363G>T (p.Leu121=) n.545G>T | gnomAD v4 |
16 | g.2496512G>A | CA394375671 | TBC1D24 | c.364G>A (p.Ala122Thr) n.546G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496512G>C | CA394375669 | TBC1D24 | c.364G>C (p.Ala122Pro) n.546G>C | gnomAD v4 |
16 | g.2496512G= | CA2202259834 | TBC1D24 | c.364G= (p.Ala122=) n.546G= | |
16 | g.2496512G>T | CA394375667 | TBC1D24 | c.364G>T (p.Ala122Ser) n.546G>T | |
16 | g.2496513C>A | CA394375673 | TBC1D24 | c.365C>A (p.Ala122Asp) n.547C>A | gnomAD v4 |
16 | g.2496513C>G | CA394375675 | TBC1D24 | c.365C>G (p.Ala122Gly) n.547C>G | |
16 | g.2496513C>T | CA394375676 | TBC1D24 | c.365C>T (p.Ala122Val) n.547C>T | |
16 | g.2496514C>A | CA493366605 | TBC1D24 | c.366C>A (p.Ala122=) n.548C>A | |
16 | g.2496514C= | CA2202259835 | TBC1D24 | c.366C= (p.Ala122=) n.548C= | |
16 | g.2496514C>G | CA493366606 | TBC1D24 | c.366C>G (p.Ala122=) n.548C>G | |
16 | g.2496514C>T | CA7843984 | TBC1D24 | c.366C>T (p.Ala122=) n.548C>T | dbSNP ExAC gnomAD v4 |
16 | g.2496515A= | CA2202259836 | TBC1D24 | c.367A= (p.Asn123=) n.549A= | |
16 | g.2496515A>C | CA394375680 | TBC1D24 | c.367A>C (p.Asn123His) n.549A>C | |
16 | g.2496515A>G | CA394375682 | TBC1D24 | c.367A>G (p.Asn123Asp) n.549A>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496515A>T | CA394375683 | TBC1D24 | c.367A>T (p.Asn123Tyr) n.549A>T | |
16 | g.2496516A= | CA2202259837 | TBC1D24 | c.368A= (p.Asn123=) n.550A= | |
16 | g.2496516A>C | CA394375685 | TBC1D24 | c.368A>C (p.Asn123Thr) n.550A>C | |
16 | g.2496516A>G | CA394375686 | TBC1D24 | c.368A>G (p.Asn123Ser) n.550A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496516A>T | CA394375688 | TBC1D24 | c.368A>T (p.Asn123Ile) n.550A>T | |
16 | g.2496517C>A | CA394375690 | TBC1D24 | c.369C>A (p.Asn123Lys) n.551C>A | |
16 | g.2496517C>G | CA394375692 | TBC1D24 | c.369C>G (p.Asn123Lys) n.551C>G | |
16 | g.2496517C>T | CA493366610 | TBC1D24 | c.369C>T (p.Asn123=) n.551C>T | |
16 | g.2496518C>A | CA394375696 | TBC1D24 | c.370C>A (p.Gln124Lys) n.552C>A | ClinVar dbSNP |
16 | g.2496518C>G | CA394375698 | TBC1D24 | c.370C>G (p.Gln124Glu) n.552C>G | |
16 | g.2496518C>T | CA394375695 | TBC1D24 | c.370C>T (p.Gln124Ter) n.552C>T | gnomAD v4 |
16 | g.2496519A>C | CA394375705 | TBC1D24 | c.371A>C (p.Gln124Pro) n.553A>C | |
16 | g.2496519A>G | CA394375701 | TBC1D24 | c.371A>G (p.Gln124Arg) n.553A>G | gnomAD v4 |
16 | g.2496519A>T | CA394375703 | TBC1D24 | c.371A>T (p.Gln124Leu) n.553A>T | |
16 | g.2496520G>A | CA493366612 | TBC1D24 | c.372G>A (p.Gln124=) n.554G>A | |
16 | g.2496520G>C | CA394375706 | TBC1D24 | c.372G>C (p.Gln124His) n.554G>C | |
16 | g.2496520G>T | CA394375707 | TBC1D24 | c.372G>T (p.Gln124His) n.554G>T | |
16 | g.2496521T>A | CA394375709 | TBC1D24 | c.373T>A (p.Phe125Ile) n.555T>A | |
16 | g.2496521T>C | CA394375711 | TBC1D24 | c.373T>C (p.Phe125Leu) n.555T>C | ClinVar dbSNP |
16 | g.2496521T>G | CA394375714 | TBC1D24 | c.373T>G (p.Phe125Val) n.555T>G | |
16 | g.2496521T= | CA2202259838 | TBC1D24 | c.373T= (p.Phe125=) n.555T= | |
16 | g.2496522T>A | CA394375716 | TBC1D24 | c.374T>A (p.Phe125Tyr) n.556T>A | |
16 | g.2496522T>C | CA394375718 | TBC1D24 | c.374T>C (p.Phe125Ser) n.556T>C | |
16 | g.2496522T>G | CA394375719 | TBC1D24 | c.374T>G (p.Phe125Cys) n.556T>G | |
16 | g.2496523C>A | CA394375721 | TBC1D24 | c.375C>A (p.Phe125Leu) n.557C>A | |
16 | g.2496523C= | CA2202259839 | TBC1D24 | c.375C= (p.Phe125=) n.557C= | |
16 | g.2496523C>G | CA394375723 | TBC1D24 | c.375C>G (p.Phe125Leu) n.557C>G | |
16 | g.2496523C>T | CA493366614 | TBC1D24 | c.375C>T (p.Phe125=) n.557C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496524C>A | CA394375729 | TBC1D24 | c.376C>A (p.Pro126Thr) n.558C>A | |
16 | g.2496524C= | CA2202259840 | TBC1D24 | c.376C= (p.Pro126=) n.558C= | |
16 | g.2496524C>G | CA394375727 | TBC1D24 | c.376C>G (p.Pro126Ala) n.558C>G | |
16 | g.2496524C>T | CA394375726 | TBC1D24 | c.376C>T (p.Pro126Ser) n.558C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496525C>A | CA394375732 | TBC1D24 | c.377C>A (p.Pro126His) n.559C>A | |
16 | g.2496525C>G | CA394375733 | TBC1D24 | c.377C>G (p.Pro126Arg) n.559C>G | |
16 | g.2496525C>T | CA394375735 | TBC1D24 | c.377C>T (p.Pro126Leu) n.559C>T | COSMIC |
16 | g.2496526C>A | CA493366618 | TBC1D24 | c.378C>A (p.Pro126=) n.560C>A | |
16 | g.2496526C= | CA2202259841 | TBC1D24 | c.378C= (p.Pro126=) n.560C= | |
16 | g.2496526C>G | CA493366619 | TBC1D24 | c.378C>G (p.Pro126=) n.560C>G | dbSNP |
16 | g.2496526C>T | CA7843985 | TBC1D24 | c.378C>T (p.Pro126=) n.560C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496527G>A | CA319020 | TBC1D24 | c.379G>A (p.Asp127Asn) n.561G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496527G>C | CA394375739 | TBC1D24 | c.379G>C (p.Asp127His) n.561G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496527G= | CA2202259842 | TBC1D24 | c.379G= (p.Asp127=) n.561G= | |
16 | g.2496527G>T | CA394375741 | TBC1D24 | c.379G>T (p.Asp127Tyr) n.561G>T | |
16 | g.2496528A= | CA2202259843 | TBC1D24 | c.380A= (p.Asp127=) n.562A= | |
16 | g.2496528A>C | CA394375742 | TBC1D24 | c.380A>C (p.Asp127Ala) n.562A>C | |
16 | g.2496528A>G | CA394375744 | TBC1D24 | c.380A>G (p.Asp127Gly) n.562A>G | ClinVar dbSNP |
16 | g.2496528A>T | CA394375745 | TBC1D24 | c.380A>T (p.Asp127Val) n.562A>T | |
16 | g.2496529C>A | CA394375747 | TBC1D24 | c.381C>A (p.Asp127Glu) n.563C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496529C= | CA2202259844 | TBC1D24 | c.381C= (p.Asp127=) n.563C= | |
16 | g.2496529C>G | CA394375748 | TBC1D24 | c.381C>G (p.Asp127Glu) n.563C>G | |
16 | g.2496529C>T | CA493366623 | TBC1D24 | c.381C>T (p.Asp127=) n.563C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496530A>C | CA394375755 | TBC1D24 | c.382A>C (p.Ile128Leu) n.564A>C | |
16 | g.2496530A>G | CA394375753 | TBC1D24 | c.382A>G (p.Ile128Val) n.564A>G | |
16 | g.2496530A>T | CA394375751 | TBC1D24 | c.382A>T (p.Ile128Phe) n.564A>T | |
16 | g.2496531T>A | CA394375757 | TBC1D24 | c.383T>A (p.Ile128Asn) n.565T>A | |
16 | g.2496531T>C | CA394375759 | TBC1D24 | c.383T>C (p.Ile128Thr) n.565T>C | |
16 | g.2496531T>G | CA394375760 | TBC1D24 | c.383T>G (p.Ile128Ser) n.565T>G | |
16 | g.2496531_2496534delinsTCTC | CA2202259845 | TBC1D24 | c.383_386delinsTCTC (p.Ile128=) n.565_568delinsTCTC | |
16 | g.2496532C>A | CA493366625 | TBC1D24 | c.384C>A (p.Ile128=) n.566C>A | |
16 | g.2496532C= | CA2202259847 | TBC1D24 | c.384C= (p.Ile128=) n.566C= | |
16 | g.2496532C>G | CA7843987 | TBC1D24 | c.384C>G (p.Ile128Met) n.566C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496532C>T | CA7843986 | TBC1D24 | c.384C>T (p.Ile128=) n.566C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496534_2496536del | CA2202259846 | TBC1D24 | c.386_388del (p.Ser129del) n.568_570del | dbSNP gnomAD v4 |
16 | g.2496533T>A | CA394375763 | TBC1D24 | c.385T>A (p.Ser129Thr) n.567T>A | |
16 | g.2496533T>C | CA394375765 | TBC1D24 | c.385T>C (p.Ser129Pro) n.567T>C | |
16 | g.2496533T>G | CA394375767 | TBC1D24 | c.385T>G (p.Ser129Ala) n.567T>G | |
16 | g.2496534C>A | CA394375769 | TBC1D24 | c.386C>A (p.Ser129Tyr) n.568C>A | |
16 | g.2496534C= | CA2202259848 | TBC1D24 | c.386C= (p.Ser129=) n.568C= | |
16 | g.2496534C>G | CA7843988 | TBC1D24 | c.386C>G (p.Ser129Cys) n.568C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496534C>T | CA394375772 | TBC1D24 | c.386C>T (p.Ser129Phe) n.568C>T | COSMIC |
16 | g.2496534_2496537delinsCCTT | CA2202259849 | TBC1D24 | c.386_389delinsCCTT (p.Ser129=) n.568_571delinsCCTT | |
16 | g.2496535C>A | CA493366627 | TBC1D24 | c.387C>A (p.Ser129=) n.569C>A | |
16 | g.2496535C= | CA2202259850 | TBC1D24 | c.387C= (p.Ser129=) n.569C= | |
16 | g.2496535C>G | CA493366628 | TBC1D24 | c.387C>G (p.Ser129=) n.569C>G | |
16 | g.2496535C>T | CA7843989 | TBC1D24 | c.387C>T (p.Ser129=) n.569C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.2496537_2496539del | CA719315782 | TBC1D24 | c.389_391del (p.Phe130del) n.571_573del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496536T>A | CA394375778 | TBC1D24 | c.388T>A (p.Phe130Ile) n.570T>A | |
16 | g.2496536T>C | CA394375779 | TBC1D24 | c.388T>C (p.Phe130Leu) n.570T>C | |
16 | g.2496536T>G | CA394375776 | TBC1D24 | c.388T>G (p.Phe130Val) n.570T>G | |
16 | g.2496537T>A | CA394375783 | TBC1D24 | c.389T>A (p.Phe130Tyr) n.571T>A | |
16 | g.2496537T>C | CA394375785 | TBC1D24 | c.389T>C (p.Phe130Ser) n.571T>C | |
16 | g.2496537T>G | CA394375787 | TBC1D24 | c.389T>G (p.Phe130Cys) n.571T>G | |
16 | g.2496538C>A | CA394375789 | TBC1D24 | c.390C>A (p.Phe130Leu) n.572C>A | |
16 | g.2496538C= | CA2202259851 | TBC1D24 | c.390C= (p.Phe130=) n.572C= | |
16 | g.2496538C>G | CA394375791 | TBC1D24 | c.390C>G (p.Phe130Leu) n.572C>G | |
16 | g.2496538C>T | CA493366630 | TBC1D24 | c.390C>T (p.Phe130=) n.572C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496539T>A | CA394375797 | TBC1D24 | c.391T>A (p.Cys131Ser) n.573T>A | |
16 | g.2496539T>C | CA394375793 | TBC1D24 | c.391T>C (p.Cys131Arg) n.573T>C | |
16 | g.2496539T>G | CA394375795 | TBC1D24 | c.391T>G (p.Cys131Gly) n.573T>G | gnomAD v4 |
16 | g.2496540G>A | CA394375799 | TBC1D24 | c.392G>A (p.Cys131Tyr) n.574G>A | |
16 | g.2496540G>C | CA394375801 | TBC1D24 | c.392G>C (p.Cys131Ser) n.574G>C | |
16 | g.2496540G>T | CA394375803 | TBC1D24 | c.392G>T (p.Cys131Phe) n.574G>T | |
16 | g.2496541C>A | CA394375805 | TBC1D24 | c.393C>A (p.Cys131Ter) n.575C>A | |
16 | g.2496541C= | CA2202259852 | TBC1D24 | c.393C= (p.Cys131=) n.575C= | |
16 | g.2496541C>G | CA7843991 | TBC1D24 | c.393C>G (p.Cys131Trp) n.575C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496541C>T | CA7843990 | TBC1D24 | c.393C>T (p.Cys131=) n.575C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496542C>A | CA394375810 | TBC1D24 | c.394C>A (p.Pro132Thr) n.576C>A | |
16 | g.2496542C= | CA2202259853 | TBC1D24 | c.394C= (p.Pro132=) n.576C= | |
16 | g.2496542C>G | CA394375811 | TBC1D24 | c.394C>G (p.Pro132Ala) n.576C>G | |
16 | g.2496542C>T | CA394375809 | TBC1D24 | c.394C>T (p.Pro132Ser) n.576C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496543C>A | CA394375816 | TBC1D24 | c.395C>A (p.Pro132His) n.577C>A | |
16 | g.2496543C>G | CA394375813 | TBC1D24 | c.395C>G (p.Pro132Arg) n.577C>G | |
16 | g.2496543C>T | CA394375814 | TBC1D24 | c.395C>T (p.Pro132Leu) n.577C>T | gnomAD v4 |
16 | g.2496544C>A | CA276809623 | TBC1D24 | c.396C>A (p.Pro132=) n.578C>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496544C= | CA2202259854 | TBC1D24 | c.396C= (p.Pro132=) n.578C= | |
16 | g.2496544C>G | CA493366634 | TBC1D24 | c.396C>G (p.Pro132=) n.578C>G | gnomAD v4 |
16 | g.2496544C>T | CA493366633 | TBC1D24 | c.396C>T (p.Pro132=) n.578C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496545G>A | CA7843992 | TBC1D24 | c.397G>A (p.Ala133Thr) n.579G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496545G>C | CA394375823 | TBC1D24 | c.397G>C (p.Ala133Pro) n.579G>C | |
16 | g.2496545G= | CA2202259855 | TBC1D24 | c.397G= (p.Ala133=) n.579G= | |
16 | g.2496545G>T | CA394375825 | TBC1D24 | c.397G>T (p.Ala133Ser) n.579G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496545dup | CA2631209801 | TBC1D24 | c.397dup (p.Ala133GlyfsTer?) n.579dup | gnomAD v4 |
16 | g.2496546C>A | CA394375834 | TBC1D24 | c.398C>A (p.Ala133Asp) n.580C>A | |
16 | g.2496546C= | CA2202259856 | TBC1D24 | c.398C= (p.Ala133=) n.580C= | |
16 | g.2496546C>G | CA394375831 | TBC1D24 | c.398C>G (p.Ala133Gly) n.580C>G | gnomAD v4 |
16 | g.2496546C>T | CA394375833 | TBC1D24 | c.398C>T (p.Ala133Val) n.580C>T | ClinVar dbSNP |
16 | g.2496548del | CA620709057 | TBC1D24 | c.400del (p.Leu134CysfsTer?) n.582del | gnomAD v2 |
16 | g.2496547C>A | CA493366637 | TBC1D24 | c.399C>A (p.Ala133=) n.581C>A | |
16 | g.2496547C= | CA2202259857 | TBC1D24 | c.399C= (p.Ala133=) n.581C= | |
16 | g.2496547C>G | CA493366639 | TBC1D24 | c.399C>G (p.Ala133=) n.581C>G | |
16 | g.2496547C>T | CA493366642 | TBC1D24 | c.399C>T (p.Ala133=) n.581C>T | dbSNP |
16 | g.2496547_2496548insTGG | CA2805583189 | TBC1D24 | c.399_400insTGG (p.Ala133_Leu134insTrp) n.581_582insTGG | |
16 | g.2496548C>A | CA394375836 | TBC1D24 | c.400C>A (p.Leu134Met) n.582C>A | |
16 | g.2496548C= | CA2202259858 | TBC1D24 | c.400C= (p.Leu134=) n.582C= | |
16 | g.2496548C>G | CA394375839 | TBC1D24 | c.400C>G (p.Leu134Val) n.582C>G | dbSNP |
16 | g.2496548C>T | CA493366643 | TBC1D24 | c.400C>T (p.Leu134=) n.582C>T | ClinVar dbSNP gnomAD v4 |
16 | g.2496549T>A | CA394375841 | TBC1D24 | c.401T>A (p.Leu134Gln) n.583T>A | |
16 | g.2496549T>C | CA394375844 | TBC1D24 | c.401T>C (p.Leu134Pro) n.583T>C | ClinVar dbSNP gnomAD v4 |
16 | g.2496549T>G | CA394375845 | TBC1D24 | c.401T>G (p.Leu134Arg) n.583T>G | |
16 | g.2496549T= | CA2202259859 | TBC1D24 | c.401T= (p.Leu134=) n.583T= | |
16 | g.2496549_2496550insAATTTTTTTTTTTTTTTTTGAGAT | CA2805583190 | TBC1D24 | c.401_402insAATTTTTTTTTTTTTTTTTGAGAT (p.Leu134_Pro135insIlePhePhePhePhePheGluMet) n.583_584insAATTTTTTTTTTTTTTTTTGAGAT | |
16 | g.2496550G>A | CA493366647 | TBC1D24 | c.402G>A (p.Leu134=) n.584G>A | |
16 | g.2496550G>C | CA493366649 | TBC1D24 | c.402G>C (p.Leu134=) n.584G>C | gnomAD v4 |
16 | g.2496550G>T | CA493366648 | TBC1D24 | c.402G>T (p.Leu134=) n.584G>T | gnomAD v4 |
16 | g.2496551C>A | CA394375848 | TBC1D24 | c.403C>A (p.Pro135Thr) n.585C>A | |
16 | g.2496551C>G | CA394375852 | TBC1D24 | c.403C>G (p.Pro135Ala) n.585C>G | |
16 | g.2496551C>T | CA394375850 | TBC1D24 | c.403C>T (p.Pro135Ser) n.585C>T | gnomAD v4 |
16 | g.2496552del | CA2580091033 | TBC1D24 | c.404del (p.Pro135ArgfsTer?) n.586del | ClinVar |
16 | g.2496552C>A | CA394375854 | TBC1D24 | c.404C>A (p.Pro135Gln) n.586C>A | |
16 | g.2496552C= | CA2202259860 | TBC1D24 | c.404C= (p.Pro135=) n.586C= | |
16 | g.2496552C>G | CA394375856 | TBC1D24 | c.404C>G (p.Pro135Arg) n.586C>G | |
16 | g.2496552C>T | CA16044430 | TBC1D24 | c.404C>T (p.Pro135Leu) n.586C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496553G>A | CA7843993 | TBC1D24 | c.405G>A (p.Pro135=) n.587G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496553G>C | CA493366653 | TBC1D24 | c.405G>C (p.Pro135=) n.587G>C | |
16 | g.2496553G= | CA2202259861 | TBC1D24 | c.405G= (p.Pro135=) n.587G= | |
16 | g.2496553G>T | CA493366654 | TBC1D24 | c.405G>T (p.Pro135=) n.587G>T | gnomAD v4 |
16 | g.2496554G>A | CA394375862 | TBC1D24 | c.406G>A (p.Ala136Thr) n.588G>A | |
16 | g.2496554G>C | CA394375863 | TBC1D24 | c.406G>C (p.Ala136Pro) n.588G>C | |
16 | g.2496554G= | CA2202259862 | TBC1D24 | c.406G= (p.Ala136=) n.588G= | |
16 | g.2496554G>T | CA394375865 | TBC1D24 | c.406G>T (p.Ala136Ser) n.588G>T | dbSNP gnomAD v4 |
16 | g.2496555C>A | CA394375868 | TBC1D24 | c.407C>A (p.Ala136Asp) n.589C>A | |
16 | g.2496555C>G | CA394375870 | TBC1D24 | c.407C>G (p.Ala136Gly) n.589C>G | |
16 | g.2496555C>T | CA394375872 | TBC1D24 | c.407C>T (p.Ala136Val) n.589C>T | |
16 | g.2496556C>A | CA493366656 | TBC1D24 | c.408C>A (p.Ala136=) n.590C>A | |
16 | g.2496556C= | CA2202259863 | TBC1D24 | c.408C= (p.Ala136=) n.590C= | |
16 | g.2496556C>G | CA493366657 | TBC1D24 | c.408C>G (p.Ala136=) n.590C>G | gnomAD v4 |
16 | g.2496556C>T | CA7843994 | TBC1D24 | c.408C>T (p.Ala136=) n.590C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496557G>A | CA7843995 | TBC1D24 | c.409G>A (p.Val137Met) n.591G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496557G>C | CA394375878 | TBC1D24 | c.409G>C (p.Val137Leu) n.591G>C | |
16 | g.2496557G= | CA2202259864 | TBC1D24 | c.409G= (p.Val137=) n.591G= | |
16 | g.2496557G>T | CA394375876 | TBC1D24 | c.409G>T (p.Val137Leu) n.591G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496558T>A | CA394375886 | TBC1D24 | c.410T>A (p.Val137Glu) n.592T>A | |
16 | g.2496558T>C | CA394375882 | TBC1D24 | c.410T>C (p.Val137Ala) n.592T>C | |
16 | g.2496558T>G | CA394375884 | TBC1D24 | c.410T>G (p.Val137Gly) n.592T>G | |
16 | g.2496559G>A | CA493366658 | TBC1D24 | c.411G>A (p.Val137=) n.593G>A | |
16 | g.2496559G>C | CA493366659 | TBC1D24 | c.411G>C (p.Val137=) n.593G>C | |
16 | g.2496559G>T | CA493366660 | TBC1D24 | c.411G>T (p.Val137=) n.593G>T | gnomAD v4 |
16 | g.2496560G>A | CA394375887 | TBC1D24 | c.412G>A (p.Val138Met) n.594G>A | dbSNP gnomAD v2 |
16 | g.2496560G>C | CA394375889 | TBC1D24 | c.412G>C (p.Val138Leu) n.594G>C | gnomAD v4 |
16 | g.2496560G= | CA2202259865 | TBC1D24 | c.412G= (p.Val138=) n.594G= | |
16 | g.2496560G>T | CA394375892 | TBC1D24 | c.412G>T (p.Val138Leu) n.594G>T |