| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.28844995C>A | CA395417595 | TUFM | c.475G>T (p.Gly159Cys) n.13G>T c.*2G>T (n.*2G>T) | |
| 16 | g.28844995C= | CA2215863173 | TUFM | c.475G= (p.Gly159=) n.13G= c.*2G= (n.*2G=) | |
| 16 | g.28844995C>G | CA395417597 | TUFM | c.475G>C (p.Gly159Arg) n.13G>C c.*2G>C (n.*2G>C) | |
| 16 | g.28844995C>T | CA7985628 | TUFM | c.475G>A (p.Gly159Ser) n.13G>A c.*2G>A (n.*2G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.28844996G>A | CA279238421 | TUFM | c.474C>T (p.Asp158=) n.12C>T c.*1C>T (n.*1C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28844996G>C | CA395417602 | TUFM | c.474C>G (p.Asp158Glu) n.12C>G c.*1C>G (n.*1C>G) | |
| 16 | g.28844996G= | CA2215863186 | TUFM | c.474C= (p.Asp158=) n.12C= c.*1C= (n.*1C=) | |
| 16 | g.28844996G>T | CA395417604 | TUFM | c.474C>A (p.Asp158Glu) n.12C>A c.*1C>A (n.*1C>A) | |
| 16 | g.28844997T>A | CA395417605 | TUFM | c.473A>T (p.Asp158Val) n.11A>T c.306A>T (p.Ter102Cys) | |
| 16 | g.28844997T>C | CA395417606 | TUFM | c.473A>G (p.Asp158Gly) n.11A>G c.306A>G (p.Ter102Trp) | |
| 16 | g.28844997T>G | CA395417609 | TUFM | c.473A>C (p.Asp158Ala) n.11A>C c.306A>C (p.Ter102Cys) | |
| 16 | g.28844998C>A | CA395417611 | TUFM | c.472G>T (p.Asp158Tyr) n.10G>T c.305G>T (p.Ter102Leu) | |
| 16 | g.28844998C>G | CA395417615 | TUFM | c.472G>C (p.Asp158His) n.10G>C c.305G>C (p.Ter102Ser) | |
| 16 | g.28844998C>T | CA395417617 | TUFM | c.472G>A (p.Asp158Asn) n.10G>A c.305G>A (p.Ter102=) | |
| 16 | g.28844999A>C | CA395417618 | TUFM | c.471T>G (p.Asn157Lys) n.9T>G c.304T>G (p.Ter102Gly) | |
| 16 | g.28844999A>G | CA494484783 | TUFM | c.471T>C (p.Asn157=) n.9T>C c.304T>C (p.Ter102Arg) | |
| 16 | g.28844999A>T | CA395417619 | TUFM | c.471T>A (p.Asn157Lys) n.9T>A c.304T>A (p.Ter102Arg) | |
| 16 | g.28845000T>A | CA395417620 | TUFM | c.470A>T (p.Asn157Ile) n.8A>T c.303A>T (p.Gln101His) | |
| 16 | g.28845000T>C | CA7985629 | TUFM | c.470A>G (p.Asn157Ser) n.8A>G c.303A>G (p.Gln101=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.28845000T>G | CA395417621 | TUFM | c.470A>C (p.Asn157Thr) n.8A>C c.303A>C (p.Gln101His) | dbSNP |
| 16 | g.28845000T= | CA2215863192 | TUFM | c.470A= (p.Asn157=) n.8A= c.303A= (p.Gln101=) | |
| 16 | g.28845001T>A | CA395417623 | TUFM | c.469A>T (p.Asn157Tyr) n.7A>T c.302A>T (p.Gln101Leu) | |
| 16 | g.28845001T>C | CA395417625 | TUFM | c.469A>G (p.Asn157Asp) n.7A>G c.302A>G (p.Gln101Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.28845001T>G | CA395417631 | TUFM | c.469A>C (p.Asn157His) n.7A>C c.302A>C (p.Gln101Pro) | |
| 16 | g.28845001T= | CA2215863199 | TUFM | c.469A= (p.Asn157=) n.7A= c.302A= (p.Gln101=) | |
| 16 | g.28845002G>A | CA494484784 | TUFM | c.468C>T (p.Ala156=) n.6C>T c.301C>T (p.Gln101Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.28845002G>C | CA7985630 | TUFM | c.468C>G (p.Ala156=) n.6C>G c.301C>G (p.Gln101Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.28845002G= | CA2215863203 | TUFM | c.468C= (p.Ala156=) n.6C= c.301C= (p.Gln101=) | |
| 16 | g.28845002G>T | CA494484785 | TUFM | c.468C>A (p.Ala156=) n.6C>A c.301C>A (p.Gln101Lys) | |
| 16 | g.28845003G>A | CA395417633 | TUFM | c.467C>T (p.Ala156Val) n.5C>T c.300C>T (p.Ser100=) | |
| 16 | g.28845003G>C | CA395417634 | TUFM | c.467C>G (p.Ala156Gly) n.5C>G c.300C>G (p.Ser100Arg) | |
| 16 | g.28845003G>T | CA395417635 | TUFM | c.467C>A (p.Ala156Asp) n.5C>A c.300C>A (p.Ser100Arg) | |
| 16 | g.28845004C>A | CA395417636 | TUFM | c.466G>T (p.Ala156Ser) n.4G>T c.299G>T (p.Ser100Ile) | |
| 16 | g.28845004C>G | CA395417637 | TUFM | c.466G>C (p.Ala156Pro) n.4G>C c.299G>C (p.Ser100Thr) | |
| 16 | g.28845004C>T | CA395417638 | TUFM | c.466G>A (p.Ala156Thr) n.4G>A c.299G>A (p.Ser100Asn) | |
| 16 | g.28845005T>A | CA494484786 | TUFM | c.465A>T (p.Ala155=) n.3A>T c.298A>T (p.Ser100Cys) | |
| 16 | g.28845005T>C | CA494484787 | TUFM | c.465A>G (p.Ala155=) n.3A>G c.298A>G (p.Ser100Gly) | |
| 16 | g.28845005T>G | CA494484788 | TUFM | c.465A>C (p.Ala155=) n.3A>C c.298A>C (p.Ser100Arg) | |
| 16 | g.28845006G>A | CA395417643 | TUFM | c.464C>T (p.Ala155Val) n.2C>T c.297C>T (p.Ser99=) | gnomAD v4 |
| 16 | g.28845006G>C | CA395417649 | TUFM | c.464C>G (p.Ala155Gly) n.2C>G c.297C>G (p.Ser99Arg) | gnomAD v4 |
| 16 | g.28845006G>T | CA395417641 | TUFM | c.464C>A (p.Ala155Glu) n.2C>A c.297C>A (p.Ser99Arg) | |
| 16 | g.28845007C>A | CA395417652 | TUFM | c.463G>T (p.Ala155Ser) n.1G>T c.296G>T (p.Ser99Ile) | |
| 16 | g.28845007C>G | CA395417650 | TUFM | c.463G>C (p.Ala155Pro) n.1G>C c.296G>C (p.Ser99Thr) | |
| 16 | g.28845007C>T | CA395417651 | TUFM | c.463G>A (p.Ala155Thr) n.1G>A c.296G>A (p.Ser99Asn) | |
| 16 | g.28845008T>A | CA494484789 | TUFM | c.462A>T (p.Val154=) c.295A>T (p.Ser99Cys) | |
| 16 | g.28845008T>C | CA494484790 | TUFM | c.462A>G (p.Val154=) c.295A>G (p.Ser99Gly) | gnomAD v4 |
| 16 | g.28845008T>G | CA494484791 | TUFM | c.462A>C (p.Val154=) c.295A>C (p.Ser99Arg) | |
| 16 | g.28845009A= | CA2215863208 | TUFM | c.461T= (p.Val154=) c.294T= (p.Gly98=) | |
| 16 | g.28845009A>C | CA395417655 | TUFM | c.461T>G (p.Val154Gly) c.294T>G (p.Gly98=) | |
| 16 | g.28845009A>G | CA395417659 | TUFM | c.461T>C (p.Val154Ala) c.294T>C (p.Gly98=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.28845009A>T | CA395417663 | TUFM | c.461T>A (p.Val154Glu) c.294T>A (p.Gly98=) | |
| 16 | g.28845010C>A | CA7985631 | TUFM | c.460G>T (p.Val154Leu) c.293G>T (p.Gly98Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845010C= | CA2215863214 | TUFM | c.460G= (p.Val154=) c.293G= (p.Gly98=) | |
| 16 | g.28845010C>G | CA395417672 | TUFM | c.460G>C (p.Val154Leu) c.293G>C (p.Gly98Ala) | |
| 16 | g.28845010C>T | CA395417674 | TUFM | c.460G>A (p.Val154Ile) c.293G>A (p.Gly98Asp) | |
| 16 | g.28845011C>A | CA494484792 | TUFM | c.459G>T (p.Val153=) c.292G>T (p.Gly98Cys) | |
| 16 | g.28845011C>G | CA494484793 | TUFM | c.459G>C (p.Val153=) c.292G>C (p.Gly98Arg) | |
| 16 | g.28845011C>T | CA494484794 | TUFM | c.459G>A (p.Val153=) c.292G>A (p.Gly98Ser) | gnomAD v4 |
| 16 | g.28845012A>C | CA395417675 | TUFM | c.458T>G (p.Val153Gly) c.291T>G (p.Gly97=) | |
| 16 | g.28845012A>G | CA395417676 | TUFM | c.458T>C (p.Val153Ala) c.291T>C (p.Gly97=) | gnomAD v4 |
| 16 | g.28845012A>T | CA395417677 | TUFM | c.458T>A (p.Val153Glu) c.291T>A (p.Gly97=) | |
| 16 | g.28845013C>A | CA395417678 | TUFM | c.457G>T (p.Val153Leu) c.290G>T (p.Gly97Val) | |
| 16 | g.28845013C>G | CA395417679 | TUFM | c.457G>C (p.Val153Leu) c.290G>C (p.Gly97Ala) | gnomAD v4 |
| 16 | g.28845013C>T | CA395417680 | TUFM | c.457G>A (p.Val153Met) c.290G>A (p.Gly97Asp) | |
| 16 | g.28845014C>A | CA494484795 | TUFM | c.456G>T (p.Leu152=) c.289G>T (p.Gly97Cys) | |
| 16 | g.28845014C>G | CA494484797 | TUFM | c.456G>C (p.Leu152=) c.289G>C (p.Gly97Arg) | |
| 16 | g.28845014C>T | CA494484796 | TUFM | c.456G>A (p.Leu152=) c.289G>A (p.Gly97Ser) | |
| 16 | g.28845015A>C | CA395417684 | TUFM | c.455T>G (p.Leu152Arg) c.288T>G (p.Pro96=) | |
| 16 | g.28845015A>G | CA395417682 | TUFM | c.455T>C (p.Leu152Pro) c.288T>C (p.Pro96=) | |
| 16 | g.28845015A>T | CA395417681 | TUFM | c.455T>A (p.Leu152Gln) c.288T>A (p.Pro96=) | |
| 16 | g.28845016G>A | CA494484798 | TUFM | c.454C>T (p.Leu152=) c.287C>T (p.Pro96Leu) | |
| 16 | g.28845016G>C | CA395417685 | TUFM | c.454C>G (p.Leu152Val) c.287C>G (p.Pro96Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28845016G= | CA2215863215 | TUFM | c.454C= (p.Leu152=) c.287C= (p.Pro96=) | |
| 16 | g.28845016G>T | CA395417688 | TUFM | c.454C>A (p.Leu152Met) c.287C>A (p.Pro96His) | |
| 16 | g.28845017G>A | CA494484799 | TUFM | c.453C>T (p.Ile151=) c.286C>T (p.Pro96Ser) | |
| 16 | g.28845017G>C | CA395417689 | TUFM | c.453C>G (p.Ile151Met) c.286C>G (p.Pro96Ala) | |
| 16 | g.28845017G>T | CA494484800 | TUFM | c.453C>A (p.Ile151=) c.286C>A (p.Pro96Thr) | |
| 16 | g.28845018A>C | CA395417690 | TUFM | c.452T>G (p.Ile151Ser) c.285T>G (p.His95Gln) | |
| 16 | g.28845018A>G | CA395417691 | TUFM | c.452T>C (p.Ile151Thr) c.285T>C (p.His95=) | |
| 16 | g.28845018A>T | CA395417692 | TUFM | c.452T>A (p.Ile151Asn) c.285T>A (p.His95Gln) | |
| 16 | g.28845019T>A | CA395417693 | TUFM | c.451A>T (p.Ile151Phe) c.284A>T (p.His95Leu) | |
| 16 | g.28845019T>C | CA395417694 | TUFM | c.451A>G (p.Ile151Val) c.284A>G (p.His95Arg) | |
| 16 | g.28845019T>G | CA395417695 | TUFM | c.451A>C (p.Ile151Leu) c.284A>C (p.His95Pro) | |
| 16 | g.28845020G>A | CA494484801 | TUFM | c.450C>T (p.Cys150=) c.283C>T (p.His95Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28845020G>C | CA395417696 | TUFM | c.450C>G (p.Cys150Trp) c.283C>G (p.His95Asp) | |
| 16 | g.28845020G= | CA2215863220 | TUFM | c.450C= (p.Cys150=) c.283C= (p.His95=) | |
| 16 | g.28845020G>T | CA395417698 | TUFM | c.450C>A (p.Cys150Ter) c.283C>A (p.His95Asn) | |
| 16 | g.28845021C>A | CA395417699 | TUFM | c.449G>T (p.Cys150Phe) c.282G>T (p.Leu94=) | |
| 16 | g.28845021C>G | CA395417701 | TUFM | c.449G>C (p.Cys150Ser) c.282G>C (p.Leu94=) | |
| 16 | g.28845021C>T | CA395417703 | TUFM | c.449G>A (p.Cys150Tyr) c.282G>A (p.Leu94=) | |
| 16 | g.28845022A>C | CA395417706 | TUFM | c.448T>G (p.Cys150Gly) c.281T>G (p.Leu94Arg) | |
| 16 | g.28845022A>G | CA395417708 | TUFM | c.448T>C (p.Cys150Arg) c.281T>C (p.Leu94Pro) | |
| 16 | g.28845022A>T | CA395417704 | TUFM | c.448T>A (p.Cys150Ser) c.281T>A (p.Leu94Gln) | |
| 16 | g.28845023G>A | CA494484802 | TUFM | c.447C>T (p.Gly149=) c.280C>T (p.Leu94=) | dbSNP |
| 16 | g.28845023G>C | CA494484803 | TUFM | c.447C>G (p.Gly149=) c.280C>G (p.Leu94Val) | gnomAD v4 |
| 16 | g.28845023G= | CA2215863224 | TUFM | c.447C= (p.Gly149=) c.280C= (p.Leu94=) | |
| 16 | g.28845023G>T | CA494484804 | TUFM | c.447C>A (p.Gly149=) c.280C>A (p.Leu94Met) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28845024C>A | CA7985632 | TUFM | c.446G>T (p.Gly149Val) c.279G>T (p.Arg93=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845024C= | CA2215863228 | TUFM | c.446G= (p.Gly149=) c.279G= (p.Arg93=) | |
| 16 | g.28845024C>G | CA395417710 | TUFM | c.446G>C (p.Gly149Ala) c.279G>C (p.Arg93=) | |
| 16 | g.28845024C>T | CA395417716 | TUFM | c.446G>A (p.Gly149Asp) c.279G>A (p.Arg93=) | |
| 16 | g.28845025C>A | CA395417719 | TUFM | c.445G>T (p.Gly149Cys) c.278G>T (p.Arg93Leu) | |
| 16 | g.28845025C= | CA2215863230 | TUFM | c.445G= (p.Gly149=) c.278G= (p.Arg93=) | |
| 16 | g.28845025C>G | CA395417722 | TUFM | c.445G>C (p.Gly149Arg) c.278G>C (p.Arg93Pro) | |
| 16 | g.28845025C>T | CA279238430 | TUFM | c.445G>A (p.Gly149Ser) c.278G>A (p.Arg93Gln) | dbSNP gnomAD v4 COSMIC |
| 16 | g.28845026G>A | CA7985633 | TUFM | c.444C>T (p.Asp148=) c.277C>T (p.Arg93Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845026G>C | CA395417730 | TUFM | c.444C>G (p.Asp148Glu) c.277C>G (p.Arg93Gly) | |
| 16 | g.28845026G= | CA2215863235 | TUFM | c.444C= (p.Asp148=) c.277C= (p.Arg93=) | |
| 16 | g.28845026G>T | CA395417731 | TUFM | c.444C>A (p.Asp148Glu) c.277C>A (p.Arg93=) | |
| 16 | g.28845027T>A | CA395417732 | TUFM | c.443A>T (p.Asp148Val) c.276A>T (p.Arg92=) | |
| 16 | g.28845027T>C | CA395417733 | TUFM | c.443A>G (p.Asp148Gly) c.276A>G (p.Arg92=) | |
| 16 | g.28845027T>G | CA395417734 | TUFM | c.443A>C (p.Asp148Ala) c.276A>C (p.Arg92=) | |
| 16 | g.28845028C>A | CA395417736 | TUFM | c.442G>T (p.Asp148Tyr) c.275G>T (p.Arg92Leu) | gnomAD v4 |
| 16 | g.28845028C>G | CA395417737 | TUFM | c.442G>C (p.Asp148His) c.275G>C (p.Arg92Pro) | |
| 16 | g.28845028C>T | CA395417735 | TUFM | c.442G>A (p.Asp148Asn) c.275G>A (p.Arg92Gln) | gnomAD v4 |
| 16 | g.28845029G>A | CA7985634 | TUFM | c.441C>T (p.Leu147=) c.274C>T (p.Arg92Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.28845029G>C | CA494484805 | TUFM | c.441C>G (p.Leu147=) c.274C>G (p.Arg92Gly) | |
| 16 | g.28845029G= | CA2215863238 | TUFM | c.441C= (p.Leu147=) c.274C= (p.Arg92=) | |
| 16 | g.28845029G>T | CA494484806 | TUFM | c.441C>A (p.Leu147=) c.274C>A (p.Arg92=) | |
| 16 | g.28845030A= | CA2215863246 | TUFM | c.440T= (p.Leu147=) c.273T= (p.Pro91=) | |
| 16 | g.28845030A>C | CA395417739 | TUFM | c.440T>G (p.Leu147Arg) c.273T>G (p.Pro91=) | |
| 16 | g.28845030A>G | CA395417740 | TUFM | c.440T>C (p.Leu147Pro) c.273T>C (p.Pro91=) | |
| 16 | g.28845030A>T | CA16042229 | TUFM | c.440T>A (p.Leu147His) c.273T>A (p.Pro91=) | ClinVar dbSNP |
| 16 | g.28845031G>A | CA395417745 | TUFM | c.439C>T (p.Leu147Phe) c.272C>T (p.Pro91Leu) | |
| 16 | g.28845031G>C | CA7985635 | TUFM | c.439C>G (p.Leu147Val) c.272C>G (p.Pro91Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.28845031G= | CA2215863255 | TUFM | c.439C= (p.Leu147=) c.272C= (p.Pro91=) | |
| 16 | g.28845031G>T | CA395417743 | TUFM | c.439C>A (p.Leu147Ile) c.272C>A (p.Pro91His) | |
| 16 | g.28845032G>A | CA494484807 | TUFM | c.438C>T (p.Pro146=) c.271C>T (p.Pro91Ser) | |
| 16 | g.28845032G>C | CA279238440 | TUFM | c.438C>G (p.Pro146=) c.271C>G (p.Pro91Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28845032G= | CA2215863257 | TUFM | c.438C= (p.Pro146=) c.271C= (p.Pro91=) | |
| 16 | g.28845032G>T | CA494484808 | TUFM | c.438C>A (p.Pro146=) c.271C>A (p.Pro91Thr) | |
| 16 | g.28845033G>A | CA395417748 | TUFM | c.437C>T (p.Pro146Leu) c.270C>T (p.Thr90=) | dbSNP gnomAD v4 |
| 16 | g.28845033G>C | CA395417749 | TUFM | c.437C>G (p.Pro146Arg) c.270C>G (p.Thr90=) | |
| 16 | g.28845033G= | CA2215863265 | TUFM | c.437C= (p.Pro146=) c.270C= (p.Thr90=) | |
| 16 | g.28845033G>T | CA395417750 | TUFM | c.437C>A (p.Pro146His) c.270C>A (p.Thr90=) | |
| 16 | g.28845034G>A | CA395417752 | TUFM | c.436C>T (p.Pro146Ser) c.269C>T (p.Thr90Ile) | gnomAD v4 COSMIC |
| 16 | g.28845034G>C | CA395417754 | TUFM | c.436C>G (p.Pro146Ala) c.269C>G (p.Thr90Ser) | |
| 16 | g.28845034G= | CA2215863270 | TUFM | c.436C= (p.Pro146=) c.269C= (p.Thr90=) | |
| 16 | g.28845034G>T | CA395417755 | TUFM | c.436C>A (p.Pro146Thr) c.269C>A (p.Thr90Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845035T>A | CA494484809 | TUFM | c.435A>T (p.Ala145=) c.268A>T (p.Thr90Ser) | |
| 16 | g.28845035T>C | CA494484810 | TUFM | c.435A>G (p.Ala145=) c.268A>G (p.Thr90Ala) | |
| 16 | g.28845035T>G | CA494484811 | TUFM | c.435A>C (p.Ala145=) c.268A>C (p.Thr90Pro) | dbSNP |
| 16 | g.28845035T= | CA2215863273 | TUFM | c.435A= (p.Ala145=) c.268A= (p.Thr90=) | |
| 16 | g.28845036G>A | CA395417756 | TUFM | c.434C>T (p.Ala145Val) c.267C>T (p.Cys89=) | |
| 16 | g.28845036G>C | CA395417759 | TUFM | c.434C>G (p.Ala145Gly) c.267C>G (p.Cys89Trp) | |
| 16 | g.28845036G>T | CA395417757 | TUFM | c.434C>A (p.Ala145Glu) c.267C>A (p.Cys89Ter) | |
| 16 | g.28845037C>A | CA395417761 | TUFM | c.433G>T (p.Ala145Ser) c.266G>T (p.Cys89Phe) | |
| 16 | g.28845037C= | CA2215863277 | TUFM | c.433G= (p.Ala145=) c.266G= (p.Cys89=) | |
| 16 | g.28845037C>G | CA395417764 | TUFM | c.433G>C (p.Ala145Pro) c.266G>C (p.Cys89Ser) | |
| 16 | g.28845037C>T | CA395417763 | TUFM | c.433G>A (p.Ala145Thr) c.266G>A (p.Cys89Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28845038A= | CA2215863279 | TUFM | c.432T= (p.Thr144=) c.265T= (p.Cys89=) | |
| 16 | g.28845038A>C | CA494484812 | TUFM | c.432T>G (p.Thr144=) c.265T>G (p.Cys89Gly) | |
| 16 | g.28845038A>G | CA7985636 | TUFM | c.432T>C (p.Thr144=) c.265T>C (p.Cys89Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845038A>T | CA494484813 | TUFM | c.432T>A (p.Thr144=) c.265T>A (p.Cys89Ser) | |
| 16 | g.28845039G>A | CA395417766 | TUFM | c.431C>T (p.Thr144Ile) c.264C>T (p.His88=) | gnomAD v4 |
| 16 | g.28845039G>C | CA395417767 | TUFM | c.431C>G (p.Thr144Ser) c.264C>G (p.His88Gln) | |
| 16 | g.28845039G>T | CA395417769 | TUFM | c.431C>A (p.Thr144Asn) c.264C>A (p.His88Gln) | |
| 16 | g.28845040T>A | CA395417773 | TUFM | c.430A>T (p.Thr144Ser) c.263A>T (p.His88Leu) | |
| 16 | g.28845040T>C | CA7985637 | TUFM | c.430A>G (p.Thr144Ala) c.263A>G (p.His88Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.28845040T>G | CA395417775 | TUFM | c.430A>C (p.Thr144Pro) c.263A>C (p.His88Pro) | |
| 16 | g.28845040T= | CA2215863281 | TUFM | c.430A= (p.Thr144=) c.263A= (p.His88=) | |
| 16 | g.28845041G>A | CA7985638 | TUFM | c.429C>T (p.Gly143=) c.262C>T (p.His88Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845041G>C | CA494484814 | TUFM | c.429C>G (p.Gly143=) c.262C>G (p.His88Asp) | |
| 16 | g.28845041G= | CA2215863283 | TUFM | c.429C= (p.Gly143=) c.262C= (p.His88=) | |
| 16 | g.28845041G>T | CA494484815 | TUFM | c.429C>A (p.Gly143=) c.262C>A (p.His88Asn) | |
| 16 | g.28845042C>A | CA395417776 | TUFM | c.428G>T (p.Gly143Val) c.261G>T (p.Arg87Ser) | |
| 16 | g.28845042C= | CA2215863285 | TUFM | c.428G= (p.Gly143=) c.261G= (p.Arg87=) | |
| 16 | g.28845042C>G | CA395417777 | TUFM | c.428G>C (p.Gly143Ala) c.261G>C (p.Arg87Ser) | |
| 16 | g.28845042C>T | CA395417778 | TUFM | c.428G>A (p.Gly143Asp) c.261G>A (p.Arg87=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28845043C>A | CA395417780 | TUFM | c.427G>T (p.Gly143Cys) c.260G>T (p.Arg87Met) | |
| 16 | g.28845043C= | CA2215863290 | TUFM | c.427G= (p.Gly143=) c.260G= (p.Arg87=) | |
| 16 | g.28845043C>G | CA395417779 | TUFM | c.427G>C (p.Gly143Arg) c.260G>C (p.Arg87Thr) | |
| 16 | g.28845043C>T | CA7985639 | TUFM | c.427G>A (p.Gly143Ser) c.260G>A (p.Arg87Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845044T>A | CA494484816 | TUFM | c.426A>T (p.Thr142=) c.259A>T (p.Arg87Trp) | |
| 16 | g.28845044T>C | CA494484817 | TUFM | c.426A>G (p.Thr142=) c.259A>G (p.Arg87Gly) | |
| 16 | g.28845044T>G | CA494484818 | TUFM | c.426A>C (p.Thr142=) c.259A>C (p.Arg87=) | |
| 16 | g.28845045G>A | CA395417782 | TUFM | c.425C>T (p.Thr142Ile) c.258C>T (p.His86=) | |
| 16 | g.28845045G>C | CA395417783 | TUFM | c.425C>G (p.Thr142Arg) c.258C>G (p.His86Gln) | |
| 16 | g.28845045G>T | CA395417784 | TUFM | c.425C>A (p.Thr142Lys) c.258C>A (p.His86Gln) | |
| 16 | g.28845046T>A | CA395417785 | TUFM | c.424A>T (p.Thr142Ser) c.257A>T (p.His86Leu) | |
| 16 | g.28845046T>C | CA395417788 | TUFM | c.424A>G (p.Thr142Ala) c.257A>G (p.His86Arg) | |
| 16 | g.28845046T>G | CA395417789 | TUFM | c.424A>C (p.Thr142Pro) c.257A>C (p.His86Pro) | |
| 16 | g.28845047G>A | CA494484819 | TUFM | c.423C>T (p.Ile141=) c.256C>T (p.His86Tyr) | |
| 16 | g.28845047G>C | CA395417790 | TUFM | c.423C>G (p.Ile141Met) c.256C>G (p.His86Asp) | gnomAD v4 |
| 16 | g.28845047G= | CA2215863295 | TUFM | c.423C= (p.Ile141=) c.256C= (p.His86=) | |
| 16 | g.28845047G>T | CA7985640 | TUFM | c.423C>A (p.Ile141=) c.256C>A (p.His86Asn) | dbSNP ExAC gnomAD v4 |
| 16 | g.28845048A>C | CA395417792 | TUFM | c.422T>G (p.Ile141Ser) c.255T>G (p.Asp85Glu) | |
| 16 | g.28845048A>G | CA395417794 | TUFM | c.422T>C (p.Ile141Thr) c.255T>C (p.Asp85=) | |
| 16 | g.28845048A>T | CA395417798 | TUFM | c.422T>A (p.Ile141Asn) c.255T>A (p.Asp85Glu) | |
| 16 | g.28845049T>A | CA395417804 | TUFM | c.421A>T (p.Ile141Phe) c.254A>T (p.Asp85Val) | |
| 16 | g.28845049T>C | CA395417806 | TUFM | c.421A>G (p.Ile141Val) c.254A>G (p.Asp85Gly) | gnomAD v4 |
| 16 | g.28845049T>G | CA395417800 | TUFM | c.421A>C (p.Ile141Leu) c.254A>C (p.Asp85Ala) | gnomAD v4 |
| 16 | g.28845050C>A | CA395417808 | TUFM | c.420G>T (p.Met140Ile) c.253G>T (p.Asp85Tyr) | |
| 16 | g.28845050C>G | CA395417810 | TUFM | c.420G>C (p.Met140Ile) c.253G>C (p.Asp85His) | |
| 16 | g.28845050C>T | CA395417812 | TUFM | c.420G>A (p.Met140Ile) c.253G>A (p.Asp85Asn) | |
| 16 | g.28845051A>C | CA395417815 | TUFM | c.419T>G (p.Met140Arg) c.252T>G (p.Tyr84Ter) | |
| 16 | g.28845051A>G | CA395417817 | TUFM | c.419T>C (p.Met140Thr) c.252T>C (p.Tyr84=) | gnomAD v4 |
| 16 | g.28845051A>T | CA395417818 | TUFM | c.419T>A (p.Met140Lys) c.252T>A (p.Tyr84Ter) | |
| 16 | g.28845052T>A | CA395417834 | TUFM | c.418A>T (p.Met140Leu) c.251A>T (p.Tyr84Phe) | |
| 16 | g.28845052T>C | CA395417820 | TUFM | c.418A>G (p.Met140Val) c.251A>G (p.Tyr84Cys) | |
| 16 | g.28845052T>G | CA395417828 | TUFM | c.418A>C (p.Met140Leu) c.251A>C (p.Tyr84Ser) | |
| 16 | g.28845053A>C | CA395417836 | TUFM | c.417T>G (p.Asn139Lys) c.250T>G (p.Tyr84Asp) | |
| 16 | g.28845053A>G | CA494484820 | TUFM | c.417T>C (p.Asn139=) c.250T>C (p.Tyr84His) | |
| 16 | g.28845053A>T | CA395417838 | TUFM | c.417T>A (p.Asn139Lys) c.250T>A (p.Tyr84Asn) | |
| 16 | g.28845054T>A | CA395417842 | TUFM | c.416A>T (p.Asn139Ile) c.249A>T (p.Lys83Asn) | |
| 16 | g.28845054T>C | CA395417844 | TUFM | c.416A>G (p.Asn139Ser) c.249A>G (p.Lys83=) | |
| 16 | g.28845054T>G | CA395417848 | TUFM | c.416A>C (p.Asn139Thr) c.249A>C (p.Lys83Asn) | |
| 16 | g.28845055T>A | CA395417850 | TUFM | c.415A>T (p.Asn139Tyr) c.248A>T (p.Lys83Ile) | |
| 16 | g.28845055T>C | CA395417856 | TUFM | c.415A>G (p.Asn139Asp) c.248A>G (p.Lys83Arg) | |
| 16 | g.28845055T>G | CA395417851 | TUFM | c.415A>C (p.Asn139His) c.248A>C (p.Lys83Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28845055T= | CA2215863298 | TUFM | c.415A= (p.Asn139=) c.248A= (p.Lys83=) | |
| 16 | g.28845056C>A | CA395417859 | TUFM | c.415-1G>T (n.415-1G>T) c.248-1G>T (n.248-1G>T) | |
| 16 | g.28845056C>G | CA395417860 | TUFM | c.415-1G>C (n.415-1G>C) c.248-1G>C (n.248-1G>C) | |
| 16 | g.28845056C>T | CA395417861 | TUFM | c.415-1G>A (n.415-1G>A) c.248-1G>A (n.248-1G>A) | |
| 16 | g.28845057T>A | CA395417862 | TUFM | c.415-2A>T (n.415-2A>T) c.248-2A>T (n.248-2A>T) | |
| 16 | g.28845057T>C | CA395417863 | TUFM | c.415-2A>G (n.415-2A>G) c.248-2A>G (n.248-2A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.28845057T>G | CA395417864 | TUFM | c.415-2A>C (n.415-2A>C) c.248-2A>C (n.248-2A>C) | |
| 16 | g.28845057T= | CA2215863300 | TUFM | c.415-2A= (n.415-2A=) c.248-2A= (n.248-2A=) | |
| 16 | g.28845057_28845058insTAACATAATCTGCATGACCC | CA2732136366 | TUFM | c.415-3_415-2insGGGTCATGCAGATTATGTTA (n.415-3_415-2insGGGTCATGCAGATTATGTTA) c.248-3_248-2insGGGTCATGCAGATTATGTTA (n.248-3_248-2insGGGTCATGCAGATTATGTTA) | dbSNP |
| 16 | g.28845057_28845058insTAACATAATCTGCATGACCCGGGCAGTCTGTGTG | CA2806422025 | TUFM | c.415-3_415-2insCACACAGACTGCCCGGGTCATGCAGATTATGTTA (n.415-3_415-2insCACACAGACTGCCCGGGTCATGCAGATTATGTTA) c.248-3_248-2insCACACAGACTGCCCGGGTCATGCAGATTATGTTA (n.248-3_248-2insCACACAGACTGCCCGGGTCATGCAGATTATGTTA) | |
| 16 | g.28845059G>A | CA2632531061 | TUFM | c.415-4C>T (n.415-4C>T) c.248-4C>T (n.248-4C>T) | gnomAD v4 |
| 16 | g.28845059G= | CA2215863302 | TUFM | c.415-4C= (n.415-4C=) c.248-4C= (n.248-4C=) | |
| 16 | g.28845059G>T | CA719724305 | TUFM | c.415-4C>A (n.415-4C>A) c.248-4C>A (n.248-4C>A) | dbSNP gnomAD v4 |
| 16 | g.28845059_28845060insGCAGTCTGTGTGGGCGT | CA2732136401 | TUFM | c.415-5_415-4insACGCCCACACAGACTGC (n.415-5_415-4insACGCCCACACAGACTGC) c.248-5_248-4insACGCCCACACAGACTGC (n.248-5_248-4insACGCCCACACAGACTGC) | dbSNP |
| 16 | g.28845060A>G | CA2806422027 | TUFM | c.415-5T>C (n.415-5T>C) c.248-5T>C (n.248-5T>C) | |
| 16 | g.28845060_28845063delinsAGAG | CA2215863303 | TUFM | c.415-8_415-5delinsCTCT (n.415-8_415-5delinsCTCT) c.248-8_248-5delinsCTCT (n.248-8_248-5delinsCTCT) | |
| 16 | g.28845061G>A | CA2215863309 | TUFM | c.415-6C>T (n.415-6C>T) c.248-6C>T (n.248-6C>T) | dbSNP |
| 16 | g.28845061G>C | CA7985641 | TUFM | c.415-6C>G (n.415-6C>G) c.248-6C>G (n.248-6C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845061G= | CA2215863310 | TUFM | c.415-6C= (n.415-6C=) c.248-6C= (n.248-6C=) | |
| 16 | g.28845064_28845066del | CA719724332 | TUFM | c.415-8_415-6del (n.415-8_415-6del) c.248-8_248-6del (n.248-8_248-6del) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28845062A= | CA2215863313 | TUFM | c.415-7T= (n.415-7T=) c.248-7T= (n.248-7T=) | |
| 16 | g.28845062A>G | CA7985642 | TUFM | c.415-7T>C (n.415-7T>C) c.248-7T>C (n.248-7T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845063G>A | CA2632531064 | TUFM | c.415-8C>T (n.415-8C>T) c.248-8C>T (n.248-8C>T) | gnomAD v4 |
| 16 | g.28845063G>C | CA976138056 | TUFM | c.415-8C>G (n.415-8C>G) c.248-8C>G (n.248-8C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28845063G= | CA2215863318 | TUFM | c.415-8C= (n.415-8C=) c.248-8C= (n.248-8C=) | |
| 16 | g.28845064del | CA2806422028 | TUFM | c.415-8del (n.415-8del) c.248-8del (n.248-8del) | |
| 16 | g.28845064G>A | CA7985643 | TUFM | c.415-9C>T (n.415-9C>T) c.248-9C>T (n.248-9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.28845064G= | CA2215863321 | TUFM | c.415-9C= (n.415-9C=) c.248-9C= (n.248-9C=) | |
| 16 | g.28845066G>A | CA7985644 | TUFM | c.415-11C>T (n.415-11C>T) c.248-11C>T (n.248-11C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845066G= | CA2215863325 | TUFM | c.415-11C= (n.415-11C=) c.248-11C= (n.248-11C=) | |
| 16 | g.28845066_28845071delinsGAAGGA | CA2215863326 | TUFM | c.415-16_415-11delinsTCCTTC (n.415-16_415-11delinsTCCTTC) c.248-16_248-11delinsTCCTTC (n.248-16_248-11delinsTCCTTC) | |
| 16 | g.28845074_28845078del | CA7985645 | TUFM | c.415-16_415-12del (n.415-16_415-12del) c.248-16_248-12del (n.248-16_248-12del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.28845069G>A | CA7985646 | TUFM | c.415-14C>T (n.415-14C>T) c.248-14C>T (n.248-14C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845069G>C | CA622162268 | TUFM | c.415-14C>G (n.415-14C>G) c.248-14C>G (n.248-14C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845069G= | CA2215863331 | TUFM | c.415-14C= (n.415-14C=) c.248-14C= (n.248-14C=) | |
| 16 | g.28845070G>A | CA7985647 | TUFM | c.415-15C>T (n.415-15C>T) c.248-15C>T (n.248-15C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845070G= | CA2215863333 | TUFM | c.415-15C= (n.415-15C=) c.248-15C= (n.248-15C=) | |
| 16 | g.28845072A>G | CA2732136435 | TUFM | c.415-17T>C (n.415-17T>C) c.248-17T>C (n.248-17T>C) | dbSNP |
| 16 | g.28845075G>A | CA7985648 | TUFM | c.415-20C>T (n.415-20C>T) c.248-20C>T (n.248-20C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.28845075G= | CA2215863336 | TUFM | c.415-20C= (n.415-20C=) c.248-20C= (n.248-20C=) | |
| 16 | g.28845075_28845076insCCCAACTCCCCACTCTTCCCTTTTGCATCCTTACCCAGGCTCTGAGT | CA2501269320 | TUFM | c.415-21_415-20insACTCAGAGCCTGGGTAAGGATGCAAAAGGGAAGAGTGGGGAGTTGGG (n.415-21_415-20insACTCAGAGCCTGGGTAAGGATGCAAAAGGGAAGAGTGGGGAGTTGGG) c.248-21_248-20insACTCAGAGCCTGGGTAAGGATGCAAAAGGGAAGAGTGGGGAGTTGGG (n.248-21_248-20insACTCAGAGCCTGGGTAAGGATGCAAAAGGGAAGAGTGGGGAGTTGGG) | |
| 16 | g.28845076A= | CA2215863341 | TUFM | c.415-21T= (n.415-21T=) c.248-21T= (n.248-21T=) | |
| 16 | g.28845076A>C | CA279238484 | TUFM | c.415-21T>G (n.415-21T>G) c.248-21T>G (n.248-21T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845076A>G | CA719724339 | TUFM | c.415-21T>C (n.415-21T>C) c.248-21T>C (n.248-21T>C) | dbSNP gnomAD v4 |
| 16 | g.28845078dup | CA2632531068 | TUFM | c.415-21dup (n.415-21dup) c.248-21dup (n.248-21dup) | gnomAD v4 |
| 16 | g.28845078A= | CA2215863342 | TUFM | c.415-23T= (n.415-23T=) c.248-23T= (n.248-23T=) | |
| 16 | g.28845078A>C | CA976138069 | TUFM | c.415-23T>G (n.415-23T>G) c.248-23T>G (n.248-23T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28845078A>G | CA719724343 | TUFM | c.415-23T>C (n.415-23T>C) c.248-23T>C (n.248-23T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28845079C= | CA2215863347 | TUFM | c.415-24G= (n.415-24G=) c.248-24G= (n.248-24G=) | |
| 16 | g.28845079C>G | CA622162269 | TUFM | c.415-24G>C (n.415-24G>C) c.248-24G>C (n.248-24G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845079C>T | CA279238485 | TUFM | c.415-24G>A (n.415-24G>A) c.248-24G>A (n.248-24G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845080A= | CA2215863353 | TUFM | c.415-25T= (n.415-25T=) c.248-25T= (n.248-25T=) | |
| 16 | g.28845080A>C | CA976138080 | TUFM | c.415-25T>G (n.415-25T>G) c.248-25T>G (n.248-25T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28845080A>T | CA622162270 | TUFM | c.415-25T>A (n.415-25T>A) c.248-25T>A (n.248-25T>A) | dbSNP gnomAD v2 |
| 16 | g.28845081G>A | CA2632531079 | TUFM | c.415-26C>T (n.415-26C>T) c.248-26C>T (n.248-26C>T) | gnomAD v4 |
| 16 | g.28845081G>T | CA2632531080 | TUFM | c.415-26C>A (n.415-26C>A) c.248-26C>A (n.248-26C>A) | gnomAD v4 |
| 16 | g.28845083C>T | CA2632531083 | TUFM | c.415-28G>A (n.415-28G>A) c.248-28G>A (n.248-28G>A) | gnomAD v4 |
| 16 | g.28845085A>C | CA2632531084 | TUFM | c.415-30T>G (n.415-30T>G) c.248-30T>G (n.248-30T>G) | gnomAD v4 |
| 16 | g.28845085A>G | CA2632531085 | TUFM | c.415-30T>C (n.415-30T>C) c.248-30T>C (n.248-30T>C) | gnomAD v4 |
| 16 | g.28845086G>A | CA7985649 | TUFM | c.415-31C>T (n.415-31C>T) c.248-31C>T (n.248-31C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845086G= | CA2215863358 | TUFM | c.415-31C= (n.415-31C=) c.248-31C= (n.248-31C=) | |
| 16 | g.28845086G>T | CA2575959596 | TUFM | c.415-31C>A (n.415-31C>A) c.248-31C>A (n.248-31C>A) | |
| 16 | g.28845087T>C | CA2215863364 | TUFM | c.415-32A>G (n.415-32A>G) c.248-32A>G (n.248-32A>G) | dbSNP gnomAD v4 |
| 16 | g.28845087T= | CA2215863362 | TUFM | c.415-32A= (n.415-32A=) c.248-32A= (n.248-32A=) | |
| 16 | g.28845089C>A | CA2632531091 | TUFM | c.415-34G>T (n.415-34G>T) c.248-34G>T (n.248-34G>T) | gnomAD v4 |
| 16 | g.28845092C= | CA2215863368 | TUFM | c.415-37G= (n.415-37G=) c.248-37G= (n.248-37G=) | |
| 16 | g.28845092C>T | CA7985650 | TUFM | c.415-37G>A (n.415-37G>A) c.248-37G>A (n.248-37G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845093G>A | CA622162271 | TUFM | c.415-38C>T (n.415-38C>T) c.248-38C>T (n.248-38C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28845093G>C | CA2632531098 | TUFM | c.415-38C>G (n.415-38C>G) c.248-38C>G (n.248-38C>G) | gnomAD v4 |
| 16 | g.28845093G= | CA2215863371 | TUFM | c.415-38C= (n.415-38C=) c.248-38C= (n.248-38C=) | |
| 16 | g.28845093G>T | CA2632531095 | TUFM | c.415-38C>A (n.415-38C>A) c.248-38C>A (n.248-38C>A) | gnomAD v4 |
| 16 | g.28845095G>A | CA7985651 | TUFM | c.415-40C>T (n.415-40C>T) c.248-40C>T (n.248-40C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.28845095G= | CA2215863378 | TUFM | c.415-40C= (n.415-40C=) c.248-40C= (n.248-40C=) | |
| 16 | g.28845095G>T | CA2632531099 | TUFM | c.415-40C>A (n.415-40C>A) c.248-40C>A (n.248-40C>A) | gnomAD v4 |