UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.39666002_39666017del | CA2637633069 | TCAP | c.397_412del (p.Val133SerfsTer?) c.325_340del (p.Val109SerfsTer?) | gnomAD v4 |
| 17 | g.39666006C>A | CA237513 | TCAP | c.401C>A (p.Ala134Asp) c.329C>A (p.Ala110Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39666006C= | CA2259200862 | TCAP | c.401C= (p.Ala134=) c.329C= (p.Ala110=) | |
| 17 | g.39666006C>G | CA399305563 | TCAP | c.401C>G (p.Ala134Gly) c.329C>G (p.Ala110Gly) | dbSNP |
| 17 | g.39666006C>T | CA399305562 | TCAP | c.401C>T (p.Ala134Val) c.329C>T (p.Ala110Val) | dbSNP |
| 17 | g.39666007del | CA2637633082 | TCAP | c.402del (p.Glu135ArgfsTer?) c.330del (p.Glu111ArgfsTer?) | ClinVar gnomAD v4 |
| 17 | g.39666007T>A | CA499889296 | TCAP | c.402T>A (p.Ala134=) c.330T>A (p.Ala110=) | dbSNP |
| 17 | g.39666007T>C | CA499889297 | TCAP | c.402T>C (p.Ala134=) c.330T>C (p.Ala110=) | dbSNP |
| 17 | g.39666007T>G | CA8532906 | TCAP | c.402T>G (p.Ala134=) c.330T>G (p.Ala110=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39666007T= | CA2259200863 | TCAP | c.402T= (p.Ala134=) c.330T= (p.Ala110=) | |
| 17 | g.39666008G>A | CA399305564 | TCAP | c.403G>A (p.Glu135Lys) c.331G>A (p.Glu111Lys) | dbSNP gnomAD v4 |
| 17 | g.39666008G>C | CA399305566 | TCAP | c.403G>C (p.Glu135Gln) c.331G>C (p.Glu111Gln) | dbSNP |
| 17 | g.39666008G>T | CA399305569 | TCAP | c.403G>T (p.Glu135Ter) c.331G>T (p.Glu111Ter) | gnomAD v4 |
| 17 | g.39666009A>C | CA399305571 | TCAP | c.404A>C (p.Glu135Ala) c.332A>C (p.Glu111Ala) | |
| 17 | g.39666009A>G | CA399305573 | TCAP | c.404A>G (p.Glu135Gly) c.332A>G (p.Glu111Gly) | dbSNP |
| 17 | g.39666009A>T | CA399305576 | TCAP | c.404A>T (p.Glu135Val) c.332A>T (p.Glu111Val) | dbSNP |
| 17 | g.39666010G>A | CA499889299 | TCAP | c.405G>A (p.Glu135=) c.333G>A (p.Glu111=) | gnomAD v4 |
| 17 | g.39666010G>C | CA399305578 | TCAP | c.405G>C (p.Glu135Asp) c.333G>C (p.Glu111Asp) | dbSNP |
| 17 | g.39666010G>T | CA399305581 | TCAP | c.405G>T (p.Glu135Asp) c.333G>T (p.Glu111Asp) | dbSNP |
| 17 | g.39666011A>C | CA399305584 | TCAP | c.406A>C (p.Ile136Leu) c.334A>C (p.Ile112Leu) | ClinVar dbSNP |
| 17 | g.39666011A>G | CA399305586 | TCAP | c.406A>G (p.Ile136Val) c.334A>G (p.Ile112Val) | |
| 17 | g.39666011A>T | CA399305588 | TCAP | c.406A>T (p.Ile136Phe) c.334A>T (p.Ile112Phe) | |
| 17 | g.39666012T>A | CA399305742 | TCAP | c.407T>A (p.Ile136Asn) c.335T>A (p.Ile112Asn) | ClinVar dbSNP |
| 17 | g.39666012T>C | CA399305737 | TCAP | c.407T>C (p.Ile136Thr) c.335T>C (p.Ile112Thr) | |
| 17 | g.39666012T>G | CA399305740 | TCAP | c.407T>G (p.Ile136Ser) c.335T>G (p.Ile112Ser) | dbSNP |
| 17 | g.39666013del | CA2637633102 | TCAP | c.408del (p.Thr137GlnfsTer?) c.336del (p.Thr113GlnfsTer?) | gnomAD v4 |
| 17 | g.39666013C>A | CA499670482 | TCAP | c.408C>A (p.Ile136=) c.336C>A (p.Ile112=) | dbSNP |
| 17 | g.39666013C>G | CA399305744 | TCAP | c.408C>G (p.Ile136Met) c.336C>G (p.Ile112Met) | dbSNP |
| 17 | g.39666013C>T | CA499670483 | TCAP | c.408C>T (p.Ile136=) c.336C>T (p.Ile112=) | dbSNP |
| 17 | g.39666013_39666015delinsA | CA2580093662 | TCAP | c.408_410delinsA (p.Thr137LysfsTer?) c.336_338delinsA (p.Thr113LysfsTer?) | ClinVar |
| 17 | g.39666015_39666016del | CA2576253852 | TCAP | c.410_411del (p.Thr137LysfsTer?) c.338_339del (p.Thr113LysfsTer?) | ClinVar |
| 17 | g.39666014A>C | CA399305749 | TCAP | c.409A>C (p.Thr137Pro) c.337A>C (p.Thr113Pro) | gnomAD v4 |
| 17 | g.39666014A>G | CA399305751 | TCAP | c.409A>G (p.Thr137Ala) c.337A>G (p.Thr113Ala) | |
| 17 | g.39666014A>T | CA399305753 | TCAP | c.409A>T (p.Thr137Ser) c.337A>T (p.Thr113Ser) | dbSNP |
| 17 | g.39666015del | CA2637633110 | TCAP | c.410del (p.Thr137LysfsTer?) c.338del (p.Thr113LysfsTer?) | gnomAD v4 |
| 17 | g.39666015C>A | CA8532907 | TCAP | c.410C>A (p.Thr137Lys) c.338C>A (p.Thr113Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.39666015C= | CA2259200864 | TCAP | c.410C= (p.Thr137=) c.338C= (p.Thr113=) | |
| 17 | g.39666015C>G | CA399305758 | TCAP | c.410C>G (p.Thr137Arg) c.338C>G (p.Thr113Arg) | dbSNP |
| 17 | g.39666015C>T | CA274680 | TCAP | c.410C>T (p.Thr137Ile) c.338C>T (p.Thr113Ile) | ClinVar dbSNP |
| 17 | g.39666016A= | CA2259200865 | TCAP | c.411A= (p.Thr137=) c.339A= (p.Thr113=) | |
| 17 | g.39666016A>C | CA499670486 | TCAP | c.411A>C (p.Thr137=) c.339A>C (p.Thr113=) | dbSNP |
| 17 | g.39666016A>G | CA499670487 | TCAP | c.411A>G (p.Thr137=) c.339A>G (p.Thr113=) | COSMIC |
| 17 | g.39666016A>T | CA499670488 | TCAP | c.411A>T (p.Thr137=) c.339A>T (p.Thr113=) | |
| 17 | g.39666017A>C | CA399305763 | TCAP | c.412A>C (p.Lys138Gln) c.340A>C (p.Lys114Gln) | |
| 17 | g.39666017A>G | CA399305765 | TCAP | c.412A>G (p.Lys138Glu) c.340A>G (p.Lys114Glu) | dbSNP gnomAD v4 |
| 17 | g.39666017A>T | CA399305768 | TCAP | c.412A>T (p.Lys138Ter) c.340A>T (p.Lys114Ter) | dbSNP |
| 17 | g.39666018A>C | CA399305776 | TCAP | c.413A>C (p.Lys138Thr) c.341A>C (p.Lys114Thr) | |
| 17 | g.39666018A>G | CA399305774 | TCAP | c.413A>G (p.Lys138Arg) c.341A>G (p.Lys114Arg) | dbSNP |
| 17 | g.39666018A>T | CA399305772 | TCAP | c.413A>T (p.Lys138Met) c.341A>T (p.Lys114Met) | dbSNP |
| 17 | g.39666019G>A | CA499670489 | TCAP | c.414G>A (p.Lys138=) c.342G>A (p.Lys114=) | dbSNP |
| 17 | g.39666019G>C | CA399305779 | TCAP | c.414G>C (p.Lys138Asn) c.342G>C (p.Lys114Asn) | dbSNP |
| 17 | g.39666019G>T | CA399305781 | TCAP | c.414G>T (p.Lys138Asn) c.342G>T (p.Lys114Asn) | gnomAD v4 |
| 17 | g.39666020C>A | CA399305785 | TCAP | c.415C>A (p.Gln139Lys) c.343C>A (p.Gln115Lys) | |
| 17 | g.39666020C>G | CA399305787 | TCAP | c.415C>G (p.Gln139Glu) c.343C>G (p.Gln115Glu) | dbSNP |
| 17 | g.39666020C>T | CA399305789 | TCAP | c.415C>T (p.Gln139Ter) c.343C>T (p.Gln115Ter) | ClinVar dbSNP |
| 17 | g.39666021A>C | CA399305792 | TCAP | c.416A>C (p.Gln139Pro) c.344A>C (p.Gln115Pro) | |
| 17 | g.39666021A>G | CA399305795 | TCAP | c.416A>G (p.Gln139Arg) c.344A>G (p.Gln115Arg) | |
| 17 | g.39666021A>T | CA399305797 | TCAP | c.416A>T (p.Gln139Leu) c.344A>T (p.Gln115Leu) | dbSNP |
| 17 | g.39666022G>A | CA499670493 | TCAP | c.417G>A (p.Gln139=) c.345G>A (p.Gln115=) | dbSNP |
| 17 | g.39666022G>C | CA399305800 | TCAP | c.417G>C (p.Gln139His) c.345G>C (p.Gln115His) | dbSNP |
| 17 | g.39666022G>T | CA399305802 | TCAP | c.417G>T (p.Gln139His) c.345G>T (p.Gln115His) | |
| 17 | g.39666023C>A | CA399305805 | TCAP | c.418C>A (p.Leu140Met) c.346C>A (p.Leu116Met) | gnomAD v4 |
| 17 | g.39666023C>G | CA399305806 | TCAP | c.418C>G (p.Leu140Val) c.346C>G (p.Leu116Val) | |
| 17 | g.39666023C>T | CA499670494 | TCAP | c.418C>T (p.Leu140=) c.346C>T (p.Leu116=) | dbSNP |
| 17 | g.39666024T>A | CA399305814 | TCAP | c.419T>A (p.Leu140Gln) c.347T>A (p.Leu116Gln) | dbSNP |
| 17 | g.39666024T>C | CA399305812 | TCAP | c.419T>C (p.Leu140Pro) c.347T>C (p.Leu116Pro) | dbSNP |
| 17 | g.39666024T>G | CA399305810 | TCAP | c.419T>G (p.Leu140Arg) c.347T>G (p.Leu116Arg) | dbSNP |
| 17 | g.39666025G>A | CA499670498 | TCAP | c.420G>A (p.Leu140=) c.348G>A (p.Leu116=) | |
| 17 | g.39666025G>C | CA499670499 | TCAP | c.420G>C (p.Leu140=) c.348G>C (p.Leu116=) | |
| 17 | g.39666025G>T | CA499670500 | TCAP | c.420G>T (p.Leu140=) c.348G>T (p.Leu116=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.39666025_39666026delinsGC | CA2259200866 | TCAP | c.420_421delinsGC (p.Leu140=) c.348_349delinsGC (p.Leu116=) | |
| 17 | g.39666026C>A | CA399305818 | TCAP | c.421C>A (p.Pro141Thr) c.349C>A (p.Pro117Thr) | dbSNP |
| 17 | g.39666026C= | CA2259200867 | TCAP | c.421C= (p.Pro141=) c.349C= (p.Pro117=) | |
| 17 | g.39666026C>G | CA308849 | TCAP | c.421C>G (p.Pro141Ala) c.349C>G (p.Pro117Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39666026C>T | CA399305821 | TCAP | c.421C>T (p.Pro141Ser) c.349C>T (p.Pro117Ser) | dbSNP |
| 17 | g.39666030del | CA771858561 | TCAP | c.425del (p.Pro142LeufsTer?) c.353del (p.Pro118LeufsTer?) | ClinVar dbSNP gnomAD v4 |
| 17 | g.39666027C>A | CA399305824 | TCAP | c.422C>A (p.Pro141His) c.350C>A (p.Pro117His) | |
| 17 | g.39666027C= | CA2259200868 | TCAP | c.422C= (p.Pro141=) c.350C= (p.Pro117=) | |
| 17 | g.39666027C>G | CA399305826 | TCAP | c.422C>G (p.Pro141Arg) c.350C>G (p.Pro117Arg) | |
| 17 | g.39666027C>T | CA399305828 | TCAP | c.422C>T (p.Pro141Leu) c.350C>T (p.Pro117Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39666028C>A | CA499670501 | TCAP | c.423C>A (p.Pro141=) c.351C>A (p.Pro117=) | |
| 17 | g.39666028C= | CA2259200869 | TCAP | c.423C= (p.Pro141=) c.351C= (p.Pro117=) | |
| 17 | g.39666028C>G | CA499670502 | TCAP | c.423C>G (p.Pro141=) c.351C>G (p.Pro117=) | dbSNP |
| 17 | g.39666028C>T | CA499670503 | TCAP | c.423C>T (p.Pro141=) c.351C>T (p.Pro117=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39666029C>A | CA290434183 | TCAP | c.424C>A (p.Pro142Thr) c.352C>A (p.Pro118Thr) | ClinVar dbSNP |
| 17 | g.39666029C= | CA2259200870 | TCAP | c.424C= (p.Pro142=) c.352C= (p.Pro118=) | |
| 17 | g.39666029C>G | CA399305832 | TCAP | c.424C>G (p.Pro142Ala) c.352C>G (p.Pro118Ala) | |
| 17 | g.39666029C>T | CA399305834 | TCAP | c.424C>T (p.Pro142Ser) c.352C>T (p.Pro118Ser) | dbSNP gnomAD v4 |
| 17 | g.39666030C>A | CA399305836 | TCAP | c.425C>A (p.Pro142His) c.353C>A (p.Pro118His) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39666030C= | CA2259200871 | TCAP | c.425C= (p.Pro142=) c.353C= (p.Pro118=) | |
| 17 | g.39666030C>G | CA399305839 | TCAP | c.425C>G (p.Pro142Arg) c.353C>G (p.Pro118Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39666030C>T | CA399305840 | TCAP | c.425C>T (p.Pro142Leu) c.353C>T (p.Pro118Leu) | gnomAD v4 |
| 17 | g.39666030_39666031del | CA2573153710 | TCAP | c.425_426del (p.Pro142ArgfsTer?) c.353_354del (p.Pro118ArgfsTer?) | ClinVar dbSNP |
| 17 | g.39666031T>A | CA499670507 | TCAP | c.426T>A (p.Pro142=) c.354T>A (p.Pro118=) | dbSNP |
| 17 | g.39666031T>C | CA499670508 | TCAP | c.426T>C (p.Pro142=) c.354T>C (p.Pro118=) | dbSNP gnomAD v4 |
| 17 | g.39666031T>G | CA499670509 | TCAP | c.426T>G (p.Pro142=) c.354T>G (p.Pro118=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.39666031T= | CA2259200872 | TCAP | c.426T= (p.Pro142=) c.354T= (p.Pro118=) | |
| 17 | g.39666032G>A | CA399305847 | TCAP | c.427G>A (p.Val143Met) c.355G>A (p.Val119Met) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39666032G>C | CA399305844 | TCAP | c.427G>C (p.Val143Leu) c.355G>C (p.Val119Leu) | dbSNP gnomAD v4 |
| 17 | g.39666032G= | CA2259200873 | TCAP | c.427G= (p.Val143=) c.355G= (p.Val119=) | |
| 17 | g.39666032G>T | CA399305843 | TCAP | c.427G>T (p.Val143Leu) c.355G>T (p.Val119Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.39666033T>A | CA399305850 | TCAP | c.428T>A (p.Val143Glu) c.356T>A (p.Val119Glu) | |
| 17 | g.39666033T>C | CA399305853 | TCAP | c.428T>C (p.Val143Ala) c.356T>C (p.Val119Ala) | ClinVar dbSNP |
| 17 | g.39666033T>G | CA399305851 | TCAP | c.428T>G (p.Val143Gly) c.356T>G (p.Val119Gly) | ClinVar |
| 17 | g.39666034G>A | CA499670510 | TCAP | c.429G>A (p.Val143=) c.357G>A (p.Val119=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39666034G>C | CA499670511 | TCAP | c.429G>C (p.Val143=) c.357G>C (p.Val119=) | |
| 17 | g.39666034G= | CA2259200874 | TCAP | c.429G= (p.Val143=) c.357G= (p.Val119=) | |
| 17 | g.39666034G>T | CA499670513 | TCAP | c.429G>T (p.Val143=) c.357G>T (p.Val119=) | gnomAD v4 COSMIC |
| 17 | g.39666035G>A | CA399305856 | TCAP | c.430G>A (p.Val144Met) c.358G>A (p.Val120Met) | dbSNP |
| 17 | g.39666035G>C | CA399305861 | TCAP | c.430G>C (p.Val144Leu) c.358G>C (p.Val120Leu) | dbSNP |
| 17 | g.39666035G>T | CA399305859 | TCAP | c.430G>T (p.Val144Leu) c.358G>T (p.Val120Leu) | dbSNP |
| 17 | g.39666036T>A | CA399305864 | TCAP | c.431T>A (p.Val144Glu) c.359T>A (p.Val120Glu) | |
| 17 | g.39666036T>C | CA399305866 | TCAP | c.431T>C (p.Val144Ala) c.359T>C (p.Val120Ala) | |
| 17 | g.39666036T>G | CA399305868 | TCAP | c.431T>G (p.Val144Gly) c.359T>G (p.Val120Gly) | |
| 17 | g.39666037G>A | CA499670514 | TCAP | c.432G>A (p.Val144=) c.360G>A (p.Val120=) | dbSNP |
| 17 | g.39666037G>C | CA499670516 | TCAP | c.432G>C (p.Val144=) c.360G>C (p.Val120=) | |
| 17 | g.39666037G>T | CA499670517 | TCAP | c.432G>T (p.Val144=) c.360G>T (p.Val120=) | dbSNP gnomAD v4 |
| 17 | g.39666038C>A | CA399305872 | TCAP | c.433C>A (p.Pro145Thr) c.361C>A (p.Pro121Thr) | |
| 17 | g.39666038C= | CA2259200875 | TCAP | c.433C= (p.Pro145=) c.361C= (p.Pro121=) | |
| 17 | g.39666038C>G | CA399305873 | TCAP | c.433C>G (p.Pro145Ala) c.361C>G (p.Pro121Ala) | dbSNP |
| 17 | g.39666038C>T | CA399305875 | TCAP | c.433C>T (p.Pro145Ser) c.361C>T (p.Pro121Ser) | dbSNP gnomAD v4 |
| 17 | g.39666039C>A | CA399305877 | TCAP | c.434C>A (p.Pro145His) c.362C>A (p.Pro121His) | gnomAD v4 |
| 17 | g.39666039C>G | CA399305879 | TCAP | c.434C>G (p.Pro145Arg) c.362C>G (p.Pro121Arg) | gnomAD v4 |
| 17 | g.39666039C>T | CA399305881 | TCAP | c.434C>T (p.Pro145Leu) c.362C>T (p.Pro121Leu) | |
| 17 | g.39666040T>A | CA499670518 | TCAP | c.435T>A (p.Pro145=) c.363T>A (p.Pro121=) | dbSNP |
| 17 | g.39666040T>C | CA499670519 | TCAP | c.435T>C (p.Pro145=) c.363T>C (p.Pro121=) | dbSNP gnomAD v4 |
| 17 | g.39666040T>G | CA499670520 | TCAP | c.435T>G (p.Pro145=) c.363T>G (p.Pro121=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.39666040_39666058del | CA2576253853 | TCAP | c.435_453del (p.Val146PhefsTer?) c.363_381del (p.Val122PhefsTer?) | |
| 17 | g.39666041G>A | CA399305887 | TCAP | c.436G>A (p.Val146Ile) c.364G>A (p.Val122Ile) | dbSNP |
| 17 | g.39666041G>C | CA399305885 | TCAP | c.436G>C (p.Val146Leu) c.364G>C (p.Val122Leu) | dbSNP gnomAD v4 |
| 17 | g.39666041G= | CA2259200876 | TCAP | c.436G= (p.Val146=) c.364G= (p.Val122=) | |
| 17 | g.39666041G>T | CA8532908 | TCAP | c.436G>T (p.Val146Phe) c.364G>T (p.Val122Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.39666042T>A | CA399305890 | TCAP | c.437T>A (p.Val146Asp) c.365T>A (p.Val122Asp) | dbSNP |
| 17 | g.39666042T>C | CA399305891 | TCAP | c.437T>C (p.Val146Ala) c.365T>C (p.Val122Ala) | dbSNP |
| 17 | g.39666042T>G | CA399305893 | TCAP | c.437T>G (p.Val146Gly) c.365T>G (p.Val122Gly) | dbSNP |
| 17 | g.39666043C>A | CA499670523 | TCAP | c.438C>A (p.Val146=) c.366C>A (p.Val122=) | dbSNP |
| 17 | g.39666043C= | CA2259200877 | TCAP | c.438C= (p.Val146=) c.366C= (p.Val122=) | |
| 17 | g.39666043C>G | CA499670524 | TCAP | c.438C>G (p.Val146=) c.366C>G (p.Val122=) | dbSNP gnomAD v4 |
| 17 | g.39666043C>T | CA499670525 | TCAP | c.438C>T (p.Val146=) c.366C>T (p.Val122=) | dbSNP gnomAD v4 |
| 17 | g.39666044A= | CA2259200878 | TCAP | c.439A= (p.Ser147=) c.367A= (p.Ser123=) | |
| 17 | g.39666044A>C | CA399305895 | TCAP | c.439A>C (p.Ser147Arg) c.367A>C (p.Ser123Arg) | |
| 17 | g.39666044A>G | CA399305897 | TCAP | c.439A>G (p.Ser147Gly) c.367A>G (p.Ser123Gly) | dbSNP gnomAD v4 |
| 17 | g.39666044A>T | CA399305900 | TCAP | c.439A>T (p.Ser147Cys) c.367A>T (p.Ser123Cys) | dbSNP |
| 17 | g.39666045G>A | CA399305902 | TCAP | c.440G>A (p.Ser147Asn) c.368G>A (p.Ser123Asn) | dbSNP gnomAD v4 |
| 17 | g.39666045G>C | CA399305909 | TCAP | c.440G>C (p.Ser147Thr) c.368G>C (p.Ser123Thr) | dbSNP |
| 17 | g.39666045G>T | CA399305912 | TCAP | c.440G>T (p.Ser147Ile) c.368G>T (p.Ser123Ile) | gnomAD v4 |
| 17 | g.39666046C>A | CA399305915 | TCAP | c.441C>A (p.Ser147Arg) c.369C>A (p.Ser123Arg) | dbSNP |
| 17 | g.39666046C= | CA2259200879 | TCAP | c.441C= (p.Ser147=) c.369C= (p.Ser123=) | |
| 17 | g.39666046C>G | CA399305917 | TCAP | c.441C>G (p.Ser147Arg) c.369C>G (p.Ser123Arg) | dbSNP |
| 17 | g.39666046C>T | CA499670527 | TCAP | c.441C>T (p.Ser147=) c.369C>T (p.Ser123=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.39666047A>C | CA399305922 | TCAP | c.442A>C (p.Lys148Gln) c.370A>C (p.Lys124Gln) | |
| 17 | g.39666047A>G | CA399305924 | TCAP | c.442A>G (p.Lys148Glu) c.370A>G (p.Lys124Glu) | |
| 17 | g.39666047A>T | CA399305920 | TCAP | c.442A>T (p.Lys148Ter) c.370A>T (p.Lys124Ter) | |
| 17 | g.39666048A>C | CA399305927 | TCAP | c.443A>C (p.Lys148Thr) c.371A>C (p.Lys124Thr) | |
| 17 | g.39666048A>G | CA399305929 | TCAP | c.443A>G (p.Lys148Arg) c.371A>G (p.Lys124Arg) | dbSNP |
| 17 | g.39666048A>T | CA399305931 | TCAP | c.443A>T (p.Lys148Met) c.371A>T (p.Lys124Met) | dbSNP |
| 17 | g.39666049G>A | CA499670528 | TCAP | c.444G>A (p.Lys148=) c.372G>A (p.Lys124=) | dbSNP |
| 17 | g.39666049G>C | CA399305934 | TCAP | c.444G>C (p.Lys148Asn) c.372G>C (p.Lys124Asn) | dbSNP |
| 17 | g.39666049G>T | CA399305936 | TCAP | c.444G>T (p.Lys148Asn) c.372G>T (p.Lys124Asn) | dbSNP gnomAD v4 |
| 17 | g.39666050C>A | CA399305940 | TCAP | c.445C>A (p.Pro149Thr) c.373C>A (p.Pro125Thr) | |
| 17 | g.39666050C= | CA2259200880 | TCAP | c.445C= (p.Pro149=) c.373C= (p.Pro125=) | |
| 17 | g.39666050C>G | CA290434185 | TCAP | c.445C>G (p.Pro149Ala) c.373C>G (p.Pro125Ala) | ClinVar dbSNP gnomAD v4 |
| 17 | g.39666050C>T | CA399305944 | TCAP | c.445C>T (p.Pro149Ser) c.373C>T (p.Pro125Ser) | dbSNP gnomAD v4 |
| 17 | g.39666052del | CA2637633209 | TCAP | c.447del (p.Gly150ValfsTer?) c.375del (p.Gly126ValfsTer?) | gnomAD v4 |
| 17 | g.39666051C>A | CA399305946 | TCAP | c.446C>A (p.Pro149His) c.374C>A (p.Pro125His) | |
| 17 | g.39666051C= | CA2259200881 | TCAP | c.446C= (p.Pro149=) c.374C= (p.Pro125=) | |
| 17 | g.39666051C>G | CA399305949 | TCAP | c.446C>G (p.Pro149Arg) c.374C>G (p.Pro125Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39666051C>T | CA399305951 | TCAP | c.446C>T (p.Pro149Leu) c.374C>T (p.Pro125Leu) | dbSNP gnomAD v4 |
| 17 | g.39666052C>A | CA499670533 | TCAP | c.447C>A (p.Pro149=) c.375C>A (p.Pro125=) | dbSNP gnomAD v4 |
| 17 | g.39666052C= | CA2259200882 | TCAP | c.447C= (p.Pro149=) c.375C= (p.Pro125=) | |
| 17 | g.39666052C>G | CA499670534 | TCAP | c.447C>G (p.Pro149=) c.375C>G (p.Pro125=) | dbSNP |
| 17 | g.39666052C>T | CA8532909 | TCAP | c.447C>T (p.Pro149=) c.375C>T (p.Pro125=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39666053G>A | CA069190 | TCAP | c.448G>A (p.Gly150Ser) c.376G>A (p.Gly126Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39666053G>C | CA399305955 | TCAP | c.448G>C (p.Gly150Arg) c.376G>C (p.Gly126Arg) | ClinVar dbSNP |
| 17 | g.39666053G= | CA2259200884 | TCAP | c.448G= (p.Gly150=) c.376G= (p.Gly126=) | |
| 17 | g.39666053G>T | CA399305958 | TCAP | c.448G>T (p.Gly150Cys) c.376G>T (p.Gly126Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39666057_39666058insCCTGGTGC | CA2259200883 | TCAP | c.452_453insCCTGGTGC (p.Arg153ValfsTer?) c.380_381insCCTGGTGC (p.Arg129ValfsTer?) | dbSNP gnomAD v4 |
| 17 | g.39666054G>A | CA399305962 | TCAP | c.449G>A (p.Gly150Asp) c.377G>A (p.Gly126Asp) | ClinVar dbSNP gnomAD v4 |
| 17 | g.39666054G>C | CA290434192 | TCAP | c.449G>C (p.Gly150Ala) c.377G>C (p.Gly126Ala) | dbSNP |
| 17 | g.39666054G= | CA2259200885 | TCAP | c.449G= (p.Gly150=) c.377G= (p.Gly126=) | |
| 17 | g.39666054G>T | CA399305966 | TCAP | c.449G>T (p.Gly150Val) c.377G>T (p.Gly126Val) | gnomAD v4 |
| 17 | g.39666055_39666056del | CA2733560040 | TCAP | c.450_451del (p.Ala151ThrfsTer?) c.378_379del (p.Ala127ThrfsTer?) | dbSNP |
| 17 | g.39666055T>A | CA499670537 | TCAP | c.450T>A (p.Gly150=) c.378T>A (p.Gly126=) | dbSNP |
| 17 | g.39666055T>C | CA499670538 | TCAP | c.450T>C (p.Gly150=) c.378T>C (p.Gly126=) | dbSNP gnomAD v4 |
| 17 | g.39666055T>G | CA499670539 | TCAP | c.450T>G (p.Gly150=) c.378T>G (p.Gly126=) | dbSNP |
| 17 | g.39666055T= | CA2259200886 | TCAP | c.450T= (p.Gly150=) c.378T= (p.Gly126=) | |
| 17 | g.39666055dup | CA2573153711 | TCAP | c.450dup (p.Ala151CysfsTer?) c.378dup (p.Ala127CysfsTer?) | ClinVar dbSNP |
| 17 | g.39666056G>A | CA399305969 | TCAP | c.451G>A (p.Ala151Thr) c.379G>A (p.Ala127Thr) | dbSNP gnomAD v4 |
| 17 | g.39666056G>C | CA399305971 | TCAP | c.451G>C (p.Ala151Pro) c.379G>C (p.Ala127Pro) | |
| 17 | g.39666056G>T | CA399305974 | TCAP | c.451G>T (p.Ala151Ser) c.379G>T (p.Ala127Ser) | gnomAD v4 |
| 17 | g.39666056_39666074delinsGCACTTCGTCGCTCCCTGT | CA2259200887 | TCAP | c.451_469delinsGCACTTCGTCGCTCCCTGT (p.Ala151=) c.379_397delinsGCACTTCGTCGCTCCCTGT (p.Ala127=) | |
| 17 | g.39666057C>A | CA399305977 | TCAP | c.452C>A (p.Ala151Glu) c.380C>A (p.Ala127Glu) | COSMIC |
| 17 | g.39666057C= | CA2259200889 | TCAP | c.452C= (p.Ala151=) c.380C= (p.Ala127=) | |
| 17 | g.39666057C>G | CA399305980 | TCAP | c.452C>G (p.Ala151Gly) c.380C>G (p.Ala127Gly) | dbSNP |
| 17 | g.39666057C>T | CA8532911 | TCAP | c.452C>T (p.Ala151Val) c.380C>T (p.Ala127Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39666057_39666058delinsCA | CA2259200888 | TCAP | c.452_453delinsCA (p.Ala151=) c.380_381delinsCA (p.Ala127=) | |
| 17 | g.39666057_39666058delinsTC | CA916080660 | TCAP | c.452_453delinsTC (p.Ala151Val) c.380_381delinsTC (p.Ala127Val) | ClinVar dbSNP |
| 17 | g.39666058_39666075del | CA8532910 | TCAP | c.453_470del (p.Leu152_Ser157del) c.381_398del (p.Leu128_Ser133del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.39666057_39666058insCCTTCGTCGCTCCCTGT | CA2637633260 | TCAP | c.452_453insCCTTCGTCGCTCCCTGT (p.Ser157TyrfsTer?) c.380_381insCCTTCGTCGCTCCCTGT (p.Ser133TyrfsTer?) | gnomAD v4 |
| 17 | g.39666058A= | CA180790 | TCAP | c.453A= (p.Ala151=) c.381A= (p.Ala127=) | |
| 17 | g.39666058A>C | CA282451 | TCAP | c.453A>C (p.Ala151=) c.381A>C (p.Ala127=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39666058A>G | CA290434202 | TCAP | c.453A>G (p.Ala151=) c.381A>G (p.Ala127=) | dbSNP |
| 17 | g.39666058A>T | CA499670544 | TCAP | c.453A>T (p.Ala151=) c.381A>T (p.Ala127=) | |
| 17 | g.39666059C>A | CA399305991 | TCAP | c.454C>A (p.Leu152Ile) c.382C>A (p.Leu128Ile) | gnomAD v4 |
| 17 | g.39666059C= | CA2259200890 | TCAP | c.454C= (p.Leu152=) c.382C= (p.Leu128=) | |
| 17 | g.39666059C>G | CA399305993 | TCAP | c.454C>G (p.Leu152Val) c.382C>G (p.Leu128Val) | ClinVar dbSNP |
| 17 | g.39666059C>T | CA399305989 | TCAP | c.454C>T (p.Leu152Phe) c.382C>T (p.Leu128Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39666059_39666060insCC | CA2733560104 | TCAP | c.454_455insCC (p.Leu152ProfsTer?) c.382_383insCC (p.Leu128ProfsTer?) | dbSNP |
| 17 | g.39666060T>A | CA399305997 | TCAP | c.455T>A (p.Leu152His) c.383T>A (p.Leu128His) | |
| 17 | g.39666060T>C | CA399305999 | TCAP | c.455T>C (p.Leu152Pro) c.383T>C (p.Leu128Pro) | |
| 17 | g.39666060T>G | CA399306001 | TCAP | c.455T>G (p.Leu152Arg) c.383T>G (p.Leu128Arg) | |
| 17 | g.39666060_39666061insCCCTG | CA2809442607 | TCAP | c.455_456insCCCTG (p.Arg153ProfsTer?) c.383_384insCCCTG (p.Arg129ProfsTer?) | |
| 17 | g.39666061T>A | CA499670546 | TCAP | c.456T>A (p.Leu152=) c.384T>A (p.Leu128=) | |
| 17 | g.39666061T>C | CA499670547 | TCAP | c.456T>C (p.Leu152=) c.384T>C (p.Leu128=) | |
| 17 | g.39666061T>G | CA499670545 | TCAP | c.456T>G (p.Leu152=) c.384T>G (p.Leu128=) | dbSNP |
| 17 | g.39666061T= | CA2259200891 | TCAP | c.456T= (p.Leu152=) c.384T= (p.Leu128=) | |
| 17 | g.39666062C>A | CA8532913 | TCAP | c.457C>A (p.Arg153Ser) c.385C>A (p.Arg129Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39666062C= | CA2259200892 | TCAP | c.457C= (p.Arg153=) c.385C= (p.Arg129=) | |
| 17 | g.39666062C>G | CA399306005 | TCAP | c.457C>G (p.Arg153Gly) c.385C>G (p.Arg129Gly) | dbSNP |
| 17 | g.39666062C>T | CA8532912 | TCAP | c.457C>T (p.Arg153Cys) c.385C>T (p.Arg129Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39666062_39666063insCCG | CA2809442608 | TCAP | c.457_458insCCG (p.Arg153delinsProGly) c.385_386insCCG (p.Arg129delinsProGly) | |
| 17 | g.39666063G>A | CA134926 | TCAP | c.458G>A (p.Arg153His) c.386G>A (p.Arg129His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39666063G>C | CA399306011 | TCAP | c.458G>C (p.Arg153Pro) c.386G>C (p.Arg129Pro) | dbSNP gnomAD v4 |
| 17 | g.39666063G= | CA2259200893 | TCAP | c.458G= (p.Arg153=) c.386G= (p.Arg129=) | |
| 17 | g.39666063G>T | CA399306014 | TCAP | c.458G>T (p.Arg153Leu) c.386G>T (p.Arg129Leu) | gnomAD v4 |
| 17 | g.39666064T>A | CA499670551 | TCAP | c.459T>A (p.Arg153=) c.387T>A (p.Arg129=) | |
| 17 | g.39666064T>C | CA499670549 | TCAP | c.459T>C (p.Arg153=) c.387T>C (p.Arg129=) | dbSNP |
| 17 | g.39666064T>G | CA499670550 | TCAP | c.459T>G (p.Arg153=) c.387T>G (p.Arg129=) | dbSNP |
| 17 | g.39666064_39666076delinsTCGCTCCCTGTCC | CA2259200894 | TCAP | c.459_471delinsTCGCTCCCTGTCC (p.Arg153=) c.387_399delinsTCGCTCCCTGTCC (p.Arg129=) | |
| 17 | g.39666064_39666065insG | CA2809442611 | TCAP | c.459_460insG (p.Arg154AlafsTer?) c.387_388insG (p.Arg130AlafsTer?) | |
| 17 | g.39666065C>A | CA399306018 | TCAP | c.460C>A (p.Arg154Ser) c.388C>A (p.Arg130Ser) | ClinVar dbSNP |
| 17 | g.39666065C= | CA2259200895 | TCAP | c.460C= (p.Arg154=) c.388C= (p.Arg130=) | |
| 17 | g.39666065C>G | CA399306020 | TCAP | c.460C>G (p.Arg154Gly) c.388C>G (p.Arg130Gly) | dbSNP |
| 17 | g.39666065C>T | CA8532915 | TCAP | c.460C>T (p.Arg154Cys) c.388C>T (p.Arg130Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39666065_39666077del | CA2695225718 | TCAP | c.460_472del (p.Arg154AlafsTer30) c.388_400del (p.Arg130AlafsTer30) | |
| 17 | g.39666071_39666082del | CA8532914 | TCAP | c.466_477del (p.Leu156_Ser159del) c.394_405del (p.Leu132_Ser135del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.39666066G>A | CA8532916 | TCAP | c.461G>A (p.Arg154His) c.389G>A (p.Arg130His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39666066G>C | CA399306027 | TCAP | c.461G>C (p.Arg154Pro) c.389G>C (p.Arg130Pro) | dbSNP |
| 17 | g.39666066G= | CA2259200896 | TCAP | c.461G= (p.Arg154=) c.389G= (p.Arg130=) | |
| 17 | g.39666066G>T | CA399306026 | TCAP | c.461G>T (p.Arg154Leu) c.389G>T (p.Arg130Leu) | gnomAD v4 |
| 17 | g.39666067C>A | CA499670555 | TCAP | c.462C>A (p.Arg154=) c.390C>A (p.Arg130=) | dbSNP |
| 17 | g.39666067C= | CA2259200897 | TCAP | c.462C= (p.Arg154=) c.390C= (p.Arg130=) | |
| 17 | g.39666067C>G | CA290434226 | TCAP | c.462C>G (p.Arg154=) c.390C>G (p.Arg130=) | dbSNP |
| 17 | g.39666067C>T | CA499670554 | TCAP | c.462C>T (p.Arg154=) c.390C>T (p.Arg130=) | dbSNP |
| 17 | g.39666068T>A | CA399306031 | TCAP | c.463T>A (p.Ser155Thr) c.391T>A (p.Ser131Thr) | dbSNP gnomAD v4 |
| 17 | g.39666068T>C | CA399306034 | TCAP | c.463T>C (p.Ser155Pro) c.391T>C (p.Ser131Pro) | |
| 17 | g.39666068T>G | CA399306036 | TCAP | c.463T>G (p.Ser155Ala) c.391T>G (p.Ser131Ala) | |
| 17 | g.39666069C>A | CA399306039 | TCAP | c.464C>A (p.Ser155Tyr) c.392C>A (p.Ser131Tyr) | |
| 17 | g.39666069C= | CA2259200898 | TCAP | c.464C= (p.Ser155=) c.392C= (p.Ser131=) | |
| 17 | g.39666069C>G | CA399306041 | TCAP | c.464C>G (p.Ser155Cys) c.392C>G (p.Ser131Cys) | ClinVar dbSNP |
| 17 | g.39666069C>T | CA399306043 | TCAP | c.464C>T (p.Ser155Phe) c.392C>T (p.Ser131Phe) | dbSNP gnomAD v2 |
| 17 | g.39666070C>A | CA499670557 | TCAP | c.465C>A (p.Ser155=) c.393C>A (p.Ser131=) | dbSNP gnomAD v4 |
| 17 | g.39666070C>G | CA499670558 | TCAP | c.465C>G (p.Ser155=) c.393C>G (p.Ser131=) | |
| 17 | g.39666070C>T | CA499670559 | TCAP | c.465C>T (p.Ser155=) c.393C>T (p.Ser131=) | dbSNP gnomAD v4 COSMIC |
| 17 | g.39666071C>A | CA399306046 | TCAP | c.466C>A (p.Leu156Met) c.394C>A (p.Leu132Met) | |
| 17 | g.39666071C>G | CA399306047 | TCAP | c.466C>G (p.Leu156Val) c.394C>G (p.Leu132Val) | |
| 17 | g.39666071C>T | CA499670561 | TCAP | c.466C>T (p.Leu156=) c.394C>T (p.Leu132=) | |
| 17 | g.39666072T>A | CA399306050 | TCAP | c.467T>A (p.Leu156Gln) c.395T>A (p.Leu132Gln) | |
| 17 | g.39666072T>C | CA399306052 | TCAP | c.467T>C (p.Leu156Pro) c.395T>C (p.Leu132Pro) | dbSNP |
| 17 | g.39666072T>G | CA399306053 | TCAP | c.467T>G (p.Leu156Arg) c.395T>G (p.Leu132Arg) | |
| 17 | g.39666073G>A | CA499670564 | TCAP | c.468G>A (p.Leu156=) c.396G>A (p.Leu132=) | dbSNP gnomAD v4 |
| 17 | g.39666073G>C | CA499670566 | TCAP | c.468G>C (p.Leu156=) c.396G>C (p.Leu132=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39666073G= | CA2259200899 | TCAP | c.468G= (p.Leu156=) c.396G= (p.Leu132=) | |
| 17 | g.39666073G>T | CA499670567 | TCAP | c.468G>T (p.Leu156=) c.396G>T (p.Leu132=) | gnomAD v4 |
| 17 | g.39666074T>A | CA290434229 | TCAP | c.469T>A (p.Ser157Thr) c.397T>A (p.Ser133Thr) | ClinVar dbSNP |
| 17 | g.39666074T>C | CA399306054 | TCAP | c.469T>C (p.Ser157Pro) c.397T>C (p.Ser133Pro) | dbSNP |
| 17 | g.39666074T>G | CA399306055 | TCAP | c.469T>G (p.Ser157Ala) c.397T>G (p.Ser133Ala) | dbSNP |
| 17 | g.39666074T= | CA2259200900 | TCAP | c.469T= (p.Ser157=) c.397T= (p.Ser133=) | |
| 17 | g.39666075C>A | CA399306057 | TCAP | c.470C>A (p.Ser157Tyr) c.398C>A (p.Ser133Tyr) | |
| 17 | g.39666075C= | CA2259200901 | TCAP | c.470C= (p.Ser157=) c.398C= (p.Ser133=) | |
| 17 | g.39666075C>G | CA399306058 | TCAP | c.470C>G (p.Ser157Cys) c.398C>G (p.Ser133Cys) | dbSNP |
| 17 | g.39666075C>T | CA399306056 | TCAP | c.470C>T (p.Ser157Phe) c.398C>T (p.Ser133Phe) | ClinVar dbSNP gnomAD v4 |
| 17 | g.39666075_39666106dup | CA2637633330 | TCAP | c.470_501dup (p.Ter168ProextTer31) c.398_429dup (p.Ter144ProextTer31) | gnomAD v4 |
| 17 | g.39666076C>A | CA499670569 | TCAP | c.471C>A (p.Ser157=) c.399C>A (p.Ser133=) | dbSNP |
| 17 | g.39666076C>G | CA499670570 | TCAP | c.471C>G (p.Ser157=) c.399C>G (p.Ser133=) | dbSNP gnomAD v4 |
| 17 | g.39666076C>T | CA499670571 | TCAP | c.471C>T (p.Ser157=) c.399C>T (p.Ser133=) | dbSNP |
| 17 | g.39666077C>A | CA134928 | TCAP | c.472C>A (p.Arg158Ser) c.400C>A (p.Arg134Ser) | ClinVar dbSNP gnomAD v4 |
| 17 | g.39666077C= | CA2259200902 | TCAP | c.472C= (p.Arg158=) c.400C= (p.Arg134=) | |
| 17 | g.39666077C>G | CA290434231 | TCAP | c.472C>G (p.Arg158Gly) c.400C>G (p.Arg134Gly) | dbSNP |
| 17 | g.39666077C>T | CA10583538 | TCAP | c.472C>T (p.Arg158Cys) c.400C>T (p.Arg134Cys) | ClinVar dbSNP gnomAD v4 |
| 17 | g.39666078G>A | CA134931 | TCAP | c.473G>A (p.Arg158His) c.401G>A (p.Arg134His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39666078G>C | CA399306059 | TCAP | c.473G>C (p.Arg158Pro) c.401G>C (p.Arg134Pro) | dbSNP |
| 17 | g.39666078G= | CA2259200903 | TCAP | c.473G= (p.Arg158=) c.401G= (p.Arg134=) | |
| 17 | g.39666078G>T | CA399306060 | TCAP | c.473G>T (p.Arg158Leu) c.401G>T (p.Arg134Leu) | ClinVar dbSNP gnomAD v4 |
| 17 | g.39666079_39666092dup | CA2809442613 | TCAP | c.474_487dup (p.Glu163AlafsTer30) c.402_415dup (p.Glu139AlafsTer30) | |
| 17 | g.39666079C>A | CA499670573 | TCAP | c.474C>A (p.Arg158=) c.402C>A (p.Arg134=) | |
| 17 | g.39666079C>G | CA499670574 | TCAP | c.474C>G (p.Arg158=) c.402C>G (p.Arg134=) | dbSNP |
| 17 | g.39666079C>T | CA499670575 | TCAP | c.474C>T (p.Arg158=) c.402C>T (p.Arg134=) | dbSNP gnomAD v4 |
| 17 | g.39666080T>A | CA308829 | TCAP | c.475T>A (p.Ser159Thr) c.403T>A (p.Ser135Thr) | ClinVar dbSNP |
| 17 | g.39666080T>C | CA399306061 | TCAP | c.475T>C (p.Ser159Pro) c.403T>C (p.Ser135Pro) | |
| 17 | g.39666080T>G | CA399306062 | TCAP | c.475T>G (p.Ser159Ala) c.403T>G (p.Ser135Ala) | |
| 17 | g.39666080T= | CA2259200904 | TCAP | c.475T= (p.Ser159=) c.403T= (p.Ser135=) | |
| 17 | g.39666081C>A | CA399306063 | TCAP | c.476C>A (p.Ser159Tyr) c.404C>A (p.Ser135Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39666081C= | CA2259200905 | TCAP | c.476C= (p.Ser159=) c.404C= (p.Ser135=) | |
| 17 | g.39666081C>G | CA399306064 | TCAP | c.476C>G (p.Ser159Cys) c.404C>G (p.Ser135Cys) | ClinVar dbSNP gnomAD v4 |
| 17 | g.39666081C>T | CA399306065 | TCAP | c.476C>T (p.Ser159Phe) c.404C>T (p.Ser135Phe) | COSMIC |
| 17 | g.39666082C>A | CA499670579 | TCAP | c.477C>A (p.Ser159=) c.405C>A (p.Ser135=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39666082C= | CA2259200906 | TCAP | c.477C= (p.Ser159=) c.405C= (p.Ser135=) | |
| 17 | g.39666082C>G | CA499670580 | TCAP | c.477C>G (p.Ser159=) c.405C>G (p.Ser135=) | |
| 17 | g.39666082C>T | CA499670581 | TCAP | c.477C>T (p.Ser159=) c.405C>T (p.Ser135=) | gnomAD v4 COSMIC |
| 17 | g.39666084_39666099del | CA2573153714 | TCAP | c.479_494del (p.Met160ArgfsTer23) c.407_422del (p.Met136ArgfsTer23) | ClinVar dbSNP |
| 17 | g.39666083A= | CA2259200907 | TCAP | c.478A= (p.Met160=) c.406A= (p.Met136=) | |
| 17 | g.39666083A>C | CA399306067 | TCAP | c.478A>C (p.Met160Leu) c.406A>C (p.Met136Leu) | |
| 17 | g.39666083A>G | CA290434241 | TCAP | c.478A>G (p.Met160Val) c.406A>G (p.Met136Val) | ClinVar dbSNP gnomAD v4 |
| 17 | g.39666083A>T | CA399306066 | TCAP | c.478A>T (p.Met160Leu) c.406A>T (p.Met136Leu) | dbSNP |
| 17 | g.39666084T>A | CA399306068 | TCAP | c.479T>A (p.Met160Lys) c.407T>A (p.Met136Lys) | dbSNP |
| 17 | g.39666084T>C | CA399306069 | TCAP | c.479T>C (p.Met160Thr) c.407T>C (p.Met136Thr) | ClinVar dbSNP gnomAD v4 |
| 17 | g.39666084T>G | CA399306070 | TCAP | c.479T>G (p.Met160Arg) c.407T>G (p.Met136Arg) | |
| 17 | g.39666085G>A | CA8532917 | TCAP | c.480G>A (p.Met160Ile) c.408G>A (p.Met136Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39666085G>C | CA399306071 | TCAP | c.480G>C (p.Met160Ile) c.408G>C (p.Met136Ile) | dbSNP |
| 17 | g.39666085G= | CA2259200908 | TCAP | c.480G= (p.Met160=) c.408G= (p.Met136=) | |
| 17 | g.39666085G>T | CA399306072 | TCAP | c.480G>T (p.Met160Ile) c.408G>T (p.Met136Ile) | |
| 17 | g.39666086T>A | CA399306073 | TCAP | c.481T>A (p.Ser161Thr) c.409T>A (p.Ser137Thr) | ClinVar dbSNP |
| 17 | g.39666086T>C | CA399306074 | TCAP | c.481T>C (p.Ser161Pro) c.409T>C (p.Ser137Pro) | dbSNP |
| 17 | g.39666086T>G | CA399306075 | TCAP | c.481T>G (p.Ser161Ala) c.409T>G (p.Ser137Ala) | |
| 17 | g.39666086T= | CA2259200909 | TCAP | c.481T= (p.Ser161=) c.409T= (p.Ser137=) | |
| 17 | g.39666087C>A | CA399306076 | TCAP | c.482C>A (p.Ser161Tyr) c.410C>A (p.Ser137Tyr) | dbSNP |
| 17 | g.39666087C= | CA2259200910 | TCAP | c.482C= (p.Ser161=) c.410C= (p.Ser137=) | |
| 17 | g.39666087C>G | CA399306077 | TCAP | c.482C>G (p.Ser161Cys) c.410C>G (p.Ser137Cys) | dbSNP |
| 17 | g.39666087C>T | CA399306078 | TCAP | c.482C>T (p.Ser161Phe) c.410C>T (p.Ser137Phe) | dbSNP gnomAD v2 |
| 17 | g.39666088C>A | CA499670586 | TCAP | c.483C>A (p.Ser161=) c.411C>A (p.Ser137=) | dbSNP gnomAD v4 |
| 17 | g.39666088C= | CA2259200911 | TCAP | c.483C= (p.Ser161=) c.411C= (p.Ser137=) | |
| 17 | g.39666088C>G | CA499670587 | TCAP | c.483C>G (p.Ser161=) c.411C>G (p.Ser137=) | dbSNP |
| 17 | g.39666088C>T | CA499670588 | TCAP | c.483C>T (p.Ser161=) c.411C>T (p.Ser137=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.39666089C>A | CA399306081 | TCAP | c.484C>A (p.Gln162Lys) c.412C>A (p.Gln138Lys) | |
| 17 | g.39666089C>G | CA399306080 | TCAP | c.484C>G (p.Gln162Glu) c.412C>G (p.Gln138Glu) | |
| 17 | g.39666089C>T | CA399306079 | TCAP | c.484C>T (p.Gln162Ter) c.412C>T (p.Gln138Ter) | |
| 17 | g.39666090A>C | CA399306082 | TCAP | c.485A>C (p.Gln162Pro) c.413A>C (p.Gln138Pro) | |
| 17 | g.39666090A>G | CA399306084 | TCAP | c.485A>G (p.Gln162Arg) c.413A>G (p.Gln138Arg) | dbSNP gnomAD v4 |
| 17 | g.39666090A>T | CA399306083 | TCAP | c.485A>T (p.Gln162Leu) c.413A>T (p.Gln138Leu) | |
| 17 | g.39666091G>A | CA499670591 | TCAP | c.486G>A (p.Gln162=) c.414G>A (p.Gln138=) | dbSNP gnomAD v2 |
| 17 | g.39666091G>C | CA399306085 | TCAP | c.486G>C (p.Gln162His) c.414G>C (p.Gln138His) | dbSNP |
| 17 | g.39666091G= | CA2259200912 | TCAP | c.486G= (p.Gln162=) c.414G= (p.Gln138=) | |
| 17 | g.39666091G>T | CA399306086 | TCAP | c.486G>T (p.Gln162His) c.414G>T (p.Gln138His) | dbSNP gnomAD v4 |
| 17 | g.39666092G>A | CA399306087 | TCAP | c.487G>A (p.Glu163Lys) c.415G>A (p.Glu139Lys) | |
| 17 | g.39666092G>C | CA399306088 | TCAP | c.487G>C (p.Glu163Gln) c.415G>C (p.Glu139Gln) | dbSNP |
| 17 | g.39666092G>T | CA399306089 | TCAP | c.487G>T (p.Glu163Ter) c.415G>T (p.Glu139Ter) | |
| 17 | g.39666093A>C | CA399306090 | TCAP | c.488A>C (p.Glu163Ala) c.416A>C (p.Glu139Ala) | |
| 17 | g.39666093A>G | CA399306091 | TCAP | c.488A>G (p.Glu163Gly) c.416A>G (p.Glu139Gly) | dbSNP |
| 17 | g.39666093A>T | CA399306092 | TCAP | c.488A>T (p.Glu163Val) c.416A>T (p.Glu139Val) | |
| 17 | g.39666094A>C | CA399306094 | TCAP | c.489A>C (p.Glu163Asp) c.417A>C (p.Glu139Asp) | |
| 17 | g.39666094A>G | CA499670594 | TCAP | c.489A>G (p.Glu163=) c.417A>G (p.Glu139=) | gnomAD v4 |
| 17 | g.39666094A>T | CA399306093 | TCAP | c.489A>T (p.Glu163Asp) c.417A>T (p.Glu139Asp) | |
| 17 | g.39666095G>A | CA399306095 | TCAP | c.490G>A (p.Ala164Thr) c.418G>A (p.Ala140Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.39666095G>C | CA399306096 | TCAP | c.490G>C (p.Ala164Pro) c.418G>C (p.Ala140Pro) | dbSNP |
| 17 | g.39666095G= | CA2259200914 | TCAP | c.490G= (p.Ala164=) c.418G= (p.Ala140=) | |
| 17 | g.39666095G>T | CA399306097 | TCAP | c.490G>T (p.Ala164Ser) c.418G>T (p.Ala140Ser) | gnomAD v4 |
| 17 | g.39666095_39666097delinsGCA | CA2259200913 | TCAP | c.490_492delinsGCA (p.Ala164=) c.418_420delinsGCA (p.Ala140=) | |
| 17 | g.39666096C>A | CA399306098 | TCAP | c.491C>A (p.Ala164Glu) c.419C>A (p.Ala140Glu) | |
| 17 | g.39666096C>G | CA399306099 | TCAP | c.491C>G (p.Ala164Gly) c.419C>G (p.Ala140Gly) | dbSNP |
| 17 | g.39666096C>T | CA399306100 | TCAP | c.491C>T (p.Ala164Val) c.419C>T (p.Ala140Val) | dbSNP |
| 17 | g.39666098_39666099del | CA771858715 | TCAP | c.493_494del (p.Gln165GlufsTer?) c.421_422del (p.Gln141GlufsTer?) | ClinVar dbSNP gnomAD v4 |
| 17 | g.39666097A>C | CA499670598 | TCAP | c.492A>C (p.Ala164=) c.420A>C (p.Ala140=) | dbSNP gnomAD v4 |
| 17 | g.39666097A>G | CA499670599 | TCAP | c.492A>G (p.Ala164=) c.420A>G (p.Ala140=) | |
| 17 | g.39666097A>T | CA499670600 | TCAP | c.492A>T (p.Ala164=) c.420A>T (p.Ala140=) | |
| 17 | g.39666098_39666101del | CA2637633416 | TCAP | c.493_496del (p.Gln165GlufsTer22) c.421_424del (p.Gln141GlufsTer22) | gnomAD v4 |
| 17 | g.39666098C>A | CA399306102 | TCAP | c.493C>A (p.Gln165Lys) c.421C>A (p.Gln141Lys) | gnomAD v4 |
| 17 | g.39666098C= | CA2259200915 | TCAP | c.493C= (p.Gln165=) c.421C= (p.Gln141=) | |
| 17 | g.39666098C>G | CA134934 | TCAP | c.493C>G (p.Gln165Glu) c.421C>G (p.Gln141Glu) | ClinVar dbSNP |
| 17 | g.39666098C>T | CA399306101 | TCAP | c.493C>T (p.Gln165Ter) c.421C>T (p.Gln141Ter) | gnomAD v4 |
| 17 | g.39666099A= | CA2259200916 | TCAP | c.494A= (p.Gln165=) c.422A= (p.Gln141=) | |
| 17 | g.39666099A>C | CA399306103 | TCAP | c.494A>C (p.Gln165Pro) c.422A>C (p.Gln141Pro) | |
| 17 | g.39666099A>G | CA399306104 | TCAP | c.494A>G (p.Gln165Arg) c.422A>G (p.Gln141Arg) | dbSNP gnomAD v4 |
| 17 | g.39666099A>T | CA399306105 | TCAP | c.494A>T (p.Gln165Leu) c.422A>T (p.Gln141Leu) | ClinVar dbSNP |
| 17 | g.39666103_39666104del | CA2580612607 | TCAP | c.498_499del (p.Gly167LeufsTer?) c.426_427del (p.Gly143LeufsTer?) | ClinVar dbSNP |
| 17 | g.39666101_39666104del | CA2695225719 | TCAP | c.496_499del (p.Arg166AlafsTer21) c.424_427del (p.Arg142AlafsTer21) | |
| 17 | g.39666100G>A | CA499670604 | TCAP | c.495G>A (p.Gln165=) c.423G>A (p.Gln141=) | dbSNP |
| 17 | g.39666100G>C | CA399306106 | TCAP | c.495G>C (p.Gln165His) c.423G>C (p.Gln141His) | dbSNP |
| 17 | g.39666100G>T | CA399306107 | TCAP | c.495G>T (p.Gln165His) c.423G>T (p.Gln141His) | dbSNP |
| 17 | g.39666101A= | CA2259200917 | TCAP | c.496A= (p.Arg166=) c.424A= (p.Arg142=) | |
| 17 | g.39666101A>C | CA499670605 | TCAP | c.496A>C (p.Arg166=) c.424A>C (p.Arg142=) | |
| 17 | g.39666101A>G | CA399306108 | TCAP | c.496A>G (p.Arg166Gly) c.424A>G (p.Arg142Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.39666101A>T | CA399306109 | TCAP | c.496A>T (p.Arg166Ter) c.424A>T (p.Arg142Ter) | |
| 17 | g.39666102G>A | CA8532918 | TCAP | c.497G>A (p.Arg166Lys) c.425G>A (p.Arg142Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.39666102G>C | CA399306110 | TCAP | c.497G>C (p.Arg166Thr) c.425G>C (p.Arg142Thr) | dbSNP |
| 17 | g.39666102G= | CA2259200918 | TCAP | c.497G= (p.Arg166=) c.425G= (p.Arg142=) | |
| 17 | g.39666102G>T | CA399306111 | TCAP | c.497G>T (p.Arg166Ile) c.425G>T (p.Arg142Ile) | |
| 17 | g.39666103A>C | CA399306112 | TCAP | c.498A>C (p.Arg166Ser) c.426A>C (p.Arg142Ser) | |
| 17 | g.39666103A>G | CA499670609 | TCAP | c.498A>G (p.Arg166=) c.426A>G (p.Arg142=) | dbSNP |
| 17 | g.39666103A>T | CA399306113 | TCAP | c.498A>T (p.Arg166Ser) c.426A>T (p.Arg142Ser) | |
| 17 | g.39666104G>A | CA308832 | TCAP | c.499G>A (p.Gly167Ser) c.427G>A (p.Gly143Ser) | ClinVar dbSNP |
| 17 | g.39666104G>C | CA399306115 | TCAP | c.499G>C (p.Gly167Arg) c.427G>C (p.Gly143Arg) | |
| 17 | g.39666104G= | CA2259200919 | TCAP | c.499G= (p.Gly167=) c.427G= (p.Gly143=) | |
| 17 | g.39666104G>T | CA399306114 | TCAP | c.499G>T (p.Gly167Cys) c.427G>T (p.Gly143Cys) | |
| 17 | g.39666105G>A | CA399306116 | TCAP | c.500G>A (p.Gly167Asp) c.428G>A (p.Gly143Asp) | dbSNP |
| 17 | g.39666105G>C | CA399306117 | TCAP | c.500G>C (p.Gly167Ala) c.428G>C (p.Gly143Ala) | ClinVar dbSNP |
| 17 | g.39666105G>T | CA399306118 | TCAP | c.500G>T (p.Gly167Val) c.428G>T (p.Gly143Val) | dbSNP gnomAD v4 |
| 17 | g.39666106C>A | CA499670611 | TCAP | c.501C>A (p.Gly167=) c.429C>A (p.Gly143=) | |
| 17 | g.39666106C>G | CA499670612 | TCAP | c.501C>G (p.Gly167=) c.429C>G (p.Gly143=) | dbSNP |
| 17 | g.39666106C>T | CA499670613 | TCAP | c.501C>T (p.Gly167=) c.429C>T (p.Gly143=) | dbSNP |