17 | g.80104734_80107789del | CA658795223 | GAA | c.148_859-11del
| ClinVar |
17 | g.80105010_80105026del | CA658795228 | GAA | c.424_440del (p.Ser142LeufsTer29)
| ClinVar |
17 | g.80105011_80105014delinsGCTC | CA2277810778 | GAA | c.425_428delinsGCTC (p.Ser142=)
| |
17 | g.80105015_80105017del | CA986720993 | GAA | c.429_431del (p.Ser144del)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105014C>A | CA401361285 | GAA | c.428C>A (p.Ser143Tyr)
| |
17 | g.80105014C= | CA2277810781 | GAA | c.428C= (p.Ser143=)
| |
17 | g.80105014C>G | CA401361288 | GAA | c.428C>G (p.Ser143Cys)
| dbSNP |
17 | g.80105014C>T | CA401361290 | GAA | c.428C>T (p.Ser143Phe)
| gnomAD v4 |
17 | g.80105015C>A | CA502402298 | GAA | c.429C>A (p.Ser143=)
| gnomAD v4 |
17 | g.80105015C= | CA2277810782 | GAA | c.429C= (p.Ser143=)
| |
17 | g.80105015C>G | CA502402299 | GAA | c.429C>G (p.Ser143=)
| dbSNP |
17 | g.80105015C>T | CA502402300 | GAA | c.429C>T (p.Ser143=)
| gnomAD v4 |
17 | g.80105016T>A | CA401361295 | GAA | c.430T>A (p.Ser144Thr)
| |
17 | g.80105016T>C | CA401361297 | GAA | c.430T>C (p.Ser144Pro)
| |
17 | g.80105016T>G | CA401361301 | GAA | c.430T>G (p.Ser144Ala)
| |
17 | g.80105017C>A | CA401361310 | GAA | c.431C>A (p.Ser144Tyr)
| |
17 | g.80105017C>G | CA401361307 | GAA | c.431C>G (p.Ser144Cys)
| |
17 | g.80105017C>T | CA401361304 | GAA | c.431C>T (p.Ser144Phe)
| |
17 | g.80105018T>A | CA502402306 | GAA | c.432T>A (p.Ser144=)
| |
17 | g.80105018T>C | CA502402303 | GAA | c.432T>C (p.Ser144=)
| |
17 | g.80105018T>G | CA502402304 | GAA | c.432T>G (p.Ser144=)
| |
17 | g.80105019G>A | CA401361317 | GAA | c.433G>A (p.Glu145Lys)
| ClinVar dbSNP gnomAD v4 |
17 | g.80105019G>C | CA401361314 | GAA | c.433G>C (p.Glu145Gln)
| |
17 | g.80105019G>T | CA401361319 | GAA | c.433G>T (p.Glu145Ter)
| |
17 | g.80105020A>C | CA401361325 | GAA | c.434A>C (p.Glu145Ala)
| |
17 | g.80105020A>G | CA401361331 | GAA | c.434A>G (p.Glu145Gly)
| |
17 | g.80105020A>T | CA401361327 | GAA | c.434A>T (p.Glu145Val)
| |
17 | g.80105021A= | CA2277810783 | GAA | c.435A= (p.Glu145=)
| |
17 | g.80105021A>C | CA401361335 | GAA | c.435A>C (p.Glu145Asp)
| |
17 | g.80105021A>G | CA502402310 | GAA | c.435A>G (p.Glu145=)
| |
17 | g.80105021A>T | CA8814872 | GAA | c.435A>T (p.Glu145Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80105022A>C | CA401361340 | GAA | c.436A>C (p.Met146Leu)
| |
17 | g.80105022A>G | CA401361343 | GAA | c.436A>G (p.Met146Val)
| gnomAD v4 |
17 | g.80105022A>T | CA401361345 | GAA | c.436A>T (p.Met146Leu)
| |
17 | g.80105022_80105023del | CA913014082 | GAA | c.436_437del (p.Met146GlyfsTer30)
| |
17 | g.80105022_80105023delinsAT | CA2277810784 | GAA | c.436_437delinsAT (p.Met146=)
| |
17 | g.80105023del | CA658824775 | GAA | c.437del (p.Met146ArgfsTer7)
| ClinVar dbSNP gnomAD v4 |
17 | g.80105023T>A | CA401361353 | GAA | c.437T>A (p.Met146Lys)
| |
17 | g.80105023T>C | CA401361355 | GAA | c.437T>C (p.Met146Thr)
| |
17 | g.80105023T>G | CA401361360 | GAA | c.437T>G (p.Met146Arg)
| |
17 | g.80105024G>A | CA401361364 | GAA | c.438G>A (p.Met146Ile)
| |
17 | g.80105024G>C | CA401361366 | GAA | c.438G>C (p.Met146Ile)
| |
17 | g.80105024G= | CA2277810785 | GAA | c.438G= (p.Met146=)
| |
17 | g.80105024G>T | CA401361370 | GAA | c.438G>T (p.Met146Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105025G>A | CA401361382 | GAA | c.439G>A (p.Gly147Ser)
| COSMIC |
17 | g.80105025G>C | CA401361378 | GAA | c.439G>C (p.Gly147Arg)
| |
17 | g.80105025G>T | CA401361376 | GAA | c.439G>T (p.Gly147Cys)
| |
17 | g.80105026G>A | CA401361386 | GAA | c.440G>A (p.Gly147Asp)
| |
17 | g.80105026G>C | CA401361388 | GAA | c.440G>C (p.Gly147Ala)
| |
17 | g.80105026G>T | CA401361391 | GAA | c.440G>T (p.Gly147Val)
| |
17 | g.80105027C>A | CA502402315 | GAA | c.441C>A (p.Gly147=)
| |
17 | g.80105027C>G | CA502402317 | GAA | c.441C>G (p.Gly147=)
| |
17 | g.80105027C>T | CA502402319 | GAA | c.441C>T (p.Gly147=)
| |
17 | g.80105028T>A | CA401361395 | GAA | c.442T>A (p.Tyr148Asn)
| |
17 | g.80105028T>C | CA401361396 | GAA | c.442T>C (p.Tyr148His)
| |
17 | g.80105028T>G | CA401361399 | GAA | c.442T>G (p.Tyr148Asp)
| |
17 | g.80105029A>C | CA401361404 | GAA | c.443A>C (p.Tyr148Ser)
| |
17 | g.80105029A>G | CA401361407 | GAA | c.443A>G (p.Tyr148Cys)
| |
17 | g.80105029A>T | CA401361410 | GAA | c.443A>T (p.Tyr148Phe)
| |
17 | g.80105030C>A | CA401361413 | GAA | c.444C>A (p.Tyr148Ter)
| |
17 | g.80105030C= | CA2277810786 | GAA | c.444C= (p.Tyr148=)
| |
17 | g.80105030C>G | CA401361416 | GAA | c.444C>G (p.Tyr148Ter)
| ClinVar dbSNP |
17 | g.80105030C>T | CA10605123 | GAA | c.444C>T (p.Tyr148=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105031A>C | CA401361429 | GAA | c.445A>C (p.Thr149Pro)
| |
17 | g.80105031A>G | CA401361426 | GAA | c.445A>G (p.Thr149Ala)
| gnomAD v4 |
17 | g.80105031A>T | CA401361423 | GAA | c.445A>T (p.Thr149Ser)
| |
17 | g.80105032C>A | CA401361436 | GAA | c.446C>A (p.Thr149Lys)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105032C= | CA2277810787 | GAA | c.446C= (p.Thr149=)
| |
17 | g.80105032C>G | CA401361432 | GAA | c.446C>G (p.Thr149Arg)
| |
17 | g.80105032C>T | CA8814873 | GAA | c.446C>T (p.Thr149Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105032dup | CA913014083 | GAA | c.446dup (p.Ala150GlyfsTer27)
| |
17 | g.80105033G>A | CA152919 | GAA | c.447G>A (p.Thr149=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105033G>C | CA502402324 | GAA | c.447G>C (p.Thr149=)
| |
17 | g.80105033G= | CA2277810788 | GAA | c.447G= (p.Thr149=)
| |
17 | g.80105033G>T | CA502402326 | GAA | c.447G>T (p.Thr149=)
| |
17 | g.80105034dup | CA658824776 | GAA | c.448dup (p.Ala150GlyfsTer27)
| ClinVar dbSNP |
17 | g.80105034G>A | CA294887248 | GAA | c.448G>A (p.Ala150Thr)
| ClinVar dbSNP gnomAD v4 |
17 | g.80105034G>C | CA401361445 | GAA | c.448G>C (p.Ala150Pro)
| |
17 | g.80105034G= | CA2277810789 | GAA | c.448G= (p.Ala150=)
| |
17 | g.80105034G>T | CA401361448 | GAA | c.448G>T (p.Ala150Ser)
| |
17 | g.80105035C>A | CA401361452 | GAA | c.449C>A (p.Ala150Asp)
| |
17 | g.80105035C= | CA2277810790 | GAA | c.449C= (p.Ala150=)
| |
17 | g.80105035C>G | CA294887253 | GAA | c.449C>G (p.Ala150Gly)
| dbSNP |
17 | g.80105035C>T | CA401361459 | GAA | c.449C>T (p.Ala150Val)
| gnomAD v4 |
17 | g.80105036C>A | CA502402330 | GAA | c.450C>A (p.Ala150=)
| |
17 | g.80105036C= | CA2277810791 | GAA | c.450C= (p.Ala150=)
| |
17 | g.80105036C>G | CA8814874 | GAA | c.450C>G (p.Ala150=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105036C>T | CA502402333 | GAA | c.450C>T (p.Ala150=)
| gnomAD v4 |
17 | g.80105037A= | CA2277810792 | GAA | c.451A= (p.Thr151=)
| |
17 | g.80105037A>C | CA401361465 | GAA | c.451A>C (p.Thr151Pro)
| |
17 | g.80105037A>G | CA401361468 | GAA | c.451A>G (p.Thr151Ala)
| dbSNP gnomAD v4 |
17 | g.80105037A>T | CA401361469 | GAA | c.451A>T (p.Thr151Ser)
| dbSNP |
17 | g.80105038C>A | CA401361474 | GAA | c.452C>A (p.Thr151Asn)
| |
17 | g.80105038C= | CA2277810793 | GAA | c.452C= (p.Thr151=)
| |
17 | g.80105038C>G | CA401361470 | GAA | c.452C>G (p.Thr151Ser)
| |
17 | g.80105038C>T | CA401361472 | GAA | c.452C>T (p.Thr151Ile)
| ClinVar dbSNP gnomAD v4 |
17 | g.80105040dup | CA294887290 | GAA | c.454dup (p.Leu152ProfsTer25)
| dbSNP |
17 | g.80105039C>A | CA502402336 | GAA | c.453C>A (p.Thr151=)
| |
17 | g.80105039C= | CA2277810794 | GAA | c.453C= (p.Thr151=)
| |
17 | g.80105039C>G | CA502402334 | GAA | c.453C>G (p.Thr151=)
| |
17 | g.80105039C>T | CA502402335 | GAA | c.453C>T (p.Thr151=)
| dbSNP gnomAD v2 |
17 | g.80105040C>A | CA401361476 | GAA | c.454C>A (p.Leu152Met)
| |
17 | g.80105040C>G | CA401361478 | GAA | c.454C>G (p.Leu152Val)
| ClinVar dbSNP gnomAD v4 |
17 | g.80105040C>T | CA502402337 | GAA | c.454C>T (p.Leu152=)
| |
17 | g.80105041T>A | CA401361481 | GAA | c.455T>A (p.Leu152Gln)
| |
17 | g.80105041T>C | CA401361484 | GAA | c.455T>C (p.Leu152Pro)
| gnomAD v4 |
17 | g.80105041T>G | CA401361487 | GAA | c.455T>G (p.Leu152Arg)
| |
17 | g.80105042_80105048del | CA913014084 | GAA | c.456_462del (p.Thr153ProfsTer11)
| |
17 | g.80105042G>A | CA502402339 | GAA | c.456G>A (p.Leu152=)
| |
17 | g.80105042G>C | CA502402341 | GAA | c.456G>C (p.Leu152=)
| ClinVar dbSNP |
17 | g.80105042G= | CA2277810795 | GAA | c.456G= (p.Leu152=)
| |
17 | g.80105042G>T | CA502402343 | GAA | c.456G>T (p.Leu152=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105042_80105043dup | CA2573154927 | GAA | c.456_457dup (p.Thr153ArgfsTer14)
| ClinVar dbSNP |
17 | g.80105042_80105048delinsGACCCGT | CA2277810796 | GAA | c.456_462delinsGACCCGT (p.Leu152=)
| |
17 | g.80105042_80105051delinsGACCCGTACC | CA2277810797 | GAA | c.456_465delinsGACCCGTACC (p.Leu152=)
| |
17 | g.80105043A>C | CA401361490 | GAA | c.457A>C (p.Thr153Pro)
| |
17 | g.80105043A>G | CA401361493 | GAA | c.457A>G (p.Thr153Ala)
| gnomAD v4 |
17 | g.80105043A>T | CA401361496 | GAA | c.457A>T (p.Thr153Ser)
| |
17 | g.80105043_80105045del | CA2695227064 | GAA | c.457_459del (p.Thr153del)
| |
17 | g.80105046_80105051del | CA658795230 | GAA | c.460_465del (p.Arg154_Thr155del)
| ClinVar dbSNP |
17 | g.80105047_80105055del | CA658795229 | GAA | c.461_469del (p.Arg154_Thr156del)
| ClinVar dbSNP |
17 | g.80105044C>A | CA401361500 | GAA | c.458C>A (p.Thr153Asn)
| gnomAD v4 |
17 | g.80105044C>G | CA401361503 | GAA | c.458C>G (p.Thr153Ser)
| |
17 | g.80105044C>T | CA401361506 | GAA | c.458C>T (p.Thr153Ile)
| |
17 | g.80105045C>A | CA502402346 | GAA | c.459C>A (p.Thr153=)
| |
17 | g.80105045C= | CA2277810798 | GAA | c.459C= (p.Thr153=)
| |
17 | g.80105045C>G | CA8814875 | GAA | c.459C>G (p.Thr153=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80105045C>T | CA502402347 | GAA | c.459C>T (p.Thr153=)
| |
17 | g.80105046C>A | CA401361512 | GAA | c.460C>A (p.Arg154Ser)
| COSMIC |
17 | g.80105046C= | CA2277810799 | GAA | c.460C= (p.Arg154=)
| |
17 | g.80105046C>G | CA401361515 | GAA | c.460C>G (p.Arg154Gly)
| |
17 | g.80105046C>T | CA8814876 | GAA | c.460C>T (p.Arg154Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105047G>A | CA8814877 | GAA | c.461G>A (p.Arg154His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105047G>C | CA401361525 | GAA | c.461G>C (p.Arg154Pro)
| ClinVar dbSNP gnomAD v4 |
17 | g.80105047G= | CA2277810800 | GAA | c.461G= (p.Arg154=)
| |
17 | g.80105047G>T | CA401361522 | GAA | c.461G>T (p.Arg154Leu)
| dbSNP gnomAD v4 COSMIC |
17 | g.80105048T>A | CA502402351 | GAA | c.462T>A (p.Arg154=)
| |
17 | g.80105048T>C | CA502402352 | GAA | c.462T>C (p.Arg154=)
| COSMIC |
17 | g.80105048T>G | CA502402353 | GAA | c.462T>G (p.Arg154=)
| |
17 | g.80105049A>C | CA401361530 | GAA | c.463A>C (p.Thr155Pro)
| |
17 | g.80105049A>G | CA401361533 | GAA | c.463A>G (p.Thr155Ala)
| |
17 | g.80105049A>T | CA401361536 | GAA | c.463A>T (p.Thr155Ser)
| |
17 | g.80105050C>A | CA401361539 | GAA | c.464C>A (p.Thr155Asn)
| |
17 | g.80105050C>G | CA401361542 | GAA | c.464C>G (p.Thr155Ser)
| |
17 | g.80105050C>T | CA401361544 | GAA | c.464C>T (p.Thr155Ile)
| |
17 | g.80105051dup | CA2695200350 | GAA | c.465dup (p.Thr156HisfsTer21)
| ClinVar |
17 | g.80105051C>A | CA502402355 | GAA | c.465C>A (p.Thr155=)
| |
17 | g.80105051C>G | CA502402357 | GAA | c.465C>G (p.Thr155=)
| |
17 | g.80105051C>T | CA502402356 | GAA | c.465C>T (p.Thr155=)
| gnomAD v4 |
17 | g.80105052A= | CA2277810801 | GAA | c.466A= (p.Thr156=)
| |
17 | g.80105052A>C | CA401361552 | GAA | c.466A>C (p.Thr156Pro)
| dbSNP |
17 | g.80105052A>G | CA401361555 | GAA | c.466A>G (p.Thr156Ala)
| |
17 | g.80105052A>T | CA401361558 | GAA | c.466A>T (p.Thr156Ser)
| ClinVar dbSNP gnomAD v4 |
17 | g.80105052dup | CA2640275967 | GAA | c.466dup (p.Thr156AsnfsTer21)
| gnomAD v4 |
17 | g.80105052_80105053delinsAC | CA2277810802 | GAA | c.466_467delinsAC (p.Thr156=)
| |
17 | g.80105053C>A | CA401361562 | GAA | c.467C>A (p.Thr156Asn)
| ClinVar dbSNP |
17 | g.80105053C= | CA2277810803 | GAA | c.467C= (p.Thr156=)
| |
17 | g.80105053C>G | CA401361565 | GAA | c.467C>G (p.Thr156Ser)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105053C>T | CA401361571 | GAA | c.467C>T (p.Thr156Ile)
| ClinVar dbSNP |
17 | g.80105057dup | CA2640275982 | GAA | c.471dup (p.Thr158HisfsTer19)
| gnomAD v4 |
17 | g.80105057del | CA16041883 | GAA | c.471del (p.Thr158ProfsTer8)
| ClinVar dbSNP |
17 | g.80105054C>A | CA502402445 | GAA | c.468C>A (p.Thr156=)
| dbSNP |
17 | g.80105054C= | CA2277810804 | GAA | c.468C= (p.Thr156=)
| |
17 | g.80105054C>G | CA502402446 | GAA | c.468C>G (p.Thr156=)
| ClinVar dbSNP |
17 | g.80105054C>T | CA10606807 | GAA | c.468C>T (p.Thr156=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105055C>A | CA401361583 | GAA | c.469C>A (p.Pro157Thr)
| |
17 | g.80105055C= | CA2277810805 | GAA | c.469C= (p.Pro157=)
| |
17 | g.80105055C>G | CA401361579 | GAA | c.469C>G (p.Pro157Ala)
| |
17 | g.80105055C>T | CA401361581 | GAA | c.469C>T (p.Pro157Ser)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105056C>A | CA401361584 | GAA | c.470C>A (p.Pro157His)
| |
17 | g.80105056C>G | CA401361586 | GAA | c.470C>G (p.Pro157Arg)
| |
17 | g.80105056C>T | CA401361589 | GAA | c.470C>T (p.Pro157Leu)
| gnomAD v4 |
17 | g.80105056_80105057insAAACACACCCAACA | CA2810576314 | GAA | c.470_471insAAACACACCCAACA (p.Thr158AsnfsTer13)
| |
17 | g.80105057C>A | CA502402450 | GAA | c.471C>A (p.Pro157=)
| |
17 | g.80105057C= | CA2277810806 | GAA | c.471C= (p.Pro157=)
| |
17 | g.80105057C>G | CA502402451 | GAA | c.471C>G (p.Pro157=)
| |
17 | g.80105057C>T | CA8814878 | GAA | c.471C>T (p.Pro157=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80105058A= | CA2277810807 | GAA | c.472A= (p.Thr158=)
| |
17 | g.80105058A>C | CA401361593 | GAA | c.472A>C (p.Thr158Pro)
| dbSNP |
17 | g.80105058A>G | CA401361595 | GAA | c.472A>G (p.Thr158Ala)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105058A>T | CA401361597 | GAA | c.472A>T (p.Thr158Ser)
| |
17 | g.80105059C>A | CA401361602 | GAA | c.473C>A (p.Thr158Asn)
| gnomAD v4 |
17 | g.80105059C>G | CA401361604 | GAA | c.473C>G (p.Thr158Ser)
| |
17 | g.80105059C>T | CA401361600 | GAA | c.473C>T (p.Thr158Ile)
| gnomAD v4 |
17 | g.80105060C>A | CA502402463 | GAA | c.474C>A (p.Thr158=)
| |
17 | g.80105060C>G | CA502402461 | GAA | c.474C>G (p.Thr158=)
| |
17 | g.80105060C>T | CA502402462 | GAA | c.474C>T (p.Thr158=)
| |
17 | g.80105061T>A | CA401361607 | GAA | c.475T>A (p.Phe159Ile)
| |
17 | g.80105061T>C | CA401361608 | GAA | c.475T>C (p.Phe159Leu)
| |
17 | g.80105061T>G | CA401361611 | GAA | c.475T>G (p.Phe159Val)
| |
17 | g.80105062T>A | CA401361614 | GAA | c.476T>A (p.Phe159Tyr)
| |
17 | g.80105062T>C | CA401361616 | GAA | c.476T>C (p.Phe159Ser)
| |
17 | g.80105062T>G | CA401361618 | GAA | c.476T>G (p.Phe159Cys)
| |
17 | g.80105063C>A | CA401361620 | GAA | c.477C>A (p.Phe159Leu)
| |
17 | g.80105063C= | CA2277810808 | GAA | c.477C= (p.Phe159=)
| |
17 | g.80105063C>G | CA401361619 | GAA | c.477C>G (p.Phe159Leu)
| dbSNP gnomAD v2 |
17 | g.80105063C>T | CA502402468 | GAA | c.477C>T (p.Phe159=)
| gnomAD v4 |
17 | g.80105064T>A | CA401361621 | GAA | c.478T>A (p.Phe160Ile)
| |
17 | g.80105064T>C | CA401361622 | GAA | c.478T>C (p.Phe160Leu)
| gnomAD v4 |
17 | g.80105064T>G | CA401361623 | GAA | c.478T>G (p.Phe160Val)
| |
17 | g.80105065T>A | CA401361624 | GAA | c.479T>A (p.Phe160Tyr)
| |
17 | g.80105065T>C | CA401361625 | GAA | c.479T>C (p.Phe160Ser)
| |
17 | g.80105065T>G | CA401361626 | GAA | c.479T>G (p.Phe160Cys)
| |
17 | g.80105065_80105067delinsTCC | CA2277810809 | GAA | c.479_481delinsTCC (p.Phe160=)
| |
17 | g.80105066C>A | CA401361627 | GAA | c.480C>A (p.Phe160Leu)
| |
17 | g.80105066C= | CA2277810810 | GAA | c.480C= (p.Phe160=)
| |
17 | g.80105066C>G | CA401361628 | GAA | c.480C>G (p.Phe160Leu)
| |
17 | g.80105066C>T | CA502402471 | GAA | c.480C>T (p.Phe160=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105069dup | CA658795231 | GAA | c.483dup (p.Lys162GlnfsTer15)
| |
17 | g.80105069del | CA2838388739 | GAA | c.483del (p.Lys162ArgfsTer4)
| |
17 | g.80105068_80105069del | CA8814879 | GAA | c.482_483del (p.Pro161GlnfsTer15)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80105067C>A | CA401361629 | GAA | c.481C>A (p.Pro161Thr)
| |
17 | g.80105067C>G | CA401361630 | GAA | c.481C>G (p.Pro161Ala)
| |
17 | g.80105067C>T | CA401361631 | GAA | c.481C>T (p.Pro161Ser)
| |
17 | g.80105068C>A | CA294887341 | GAA | c.482C>A (p.Pro161His)
| ClinVar dbSNP gnomAD v4 |
17 | g.80105068C= | CA2277810811 | GAA | c.482C= (p.Pro161=)
| |
17 | g.80105068C>G | CA401361632 | GAA | c.482C>G (p.Pro161Arg)
| |
17 | g.80105068C>T | CA401361633 | GAA | c.482C>T (p.Pro161Leu)
| |
17 | g.80105069C>A | CA502402478 | GAA | c.483C>A (p.Pro161=)
| |
17 | g.80105069C= | CA2277810812 | GAA | c.483C= (p.Pro161=)
| |
17 | g.80105069C>G | CA502402479 | GAA | c.483C>G (p.Pro161=)
| COSMIC |
17 | g.80105069C>T | CA502402480 | GAA | c.483C>T (p.Pro161=)
| dbSNP |
17 | g.80105070A>C | CA401361634 | GAA | c.484A>C (p.Lys162Gln)
| |
17 | g.80105070A>G | CA401361635 | GAA | c.484A>G (p.Lys162Glu)
| |
17 | g.80105070A>T | CA401361636 | GAA | c.484A>T (p.Lys162Ter)
| |
17 | g.80105071A= | CA2277810813 | GAA | c.485A= (p.Lys162=)
| |
17 | g.80105071A>C | CA401361637 | GAA | c.485A>C (p.Lys162Thr)
| |
17 | g.80105071A>G | CA401361638 | GAA | c.485A>G (p.Lys162Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105071A>T | CA401361639 | GAA | c.485A>T (p.Lys162Met)
| |
17 | g.80105072G>A | CA502402482 | GAA | c.486G>A (p.Lys162=)
| |
17 | g.80105072G>C | CA401361641 | GAA | c.486G>C (p.Lys162Asn)
| |
17 | g.80105072G>T | CA401361640 | GAA | c.486G>T (p.Lys162Asn)
| |
17 | g.80105073G>A | CA401361642 | GAA | c.487G>A (p.Asp163Asn)
| ClinVar dbSNP gnomAD v4 |
17 | g.80105073G>C | CA401361644 | GAA | c.487G>C (p.Asp163His)
| |
17 | g.80105073G= | CA2277810814 | GAA | c.487G= (p.Asp163=)
| |
17 | g.80105073G>T | CA401361643 | GAA | c.487G>T (p.Asp163Tyr)
| gnomAD v4 |
17 | g.80105076_80105110del | CA2695200351 | GAA | c.490_524del (p.Ile164Ter)
| ClinVar |
17 | g.80105074A= | CA2277810815 | GAA | c.488A= (p.Asp163=)
| |
17 | g.80105074A>C | CA401361645 | GAA | c.488A>C (p.Asp163Ala)
| |
17 | g.80105074A>G | CA401361646 | GAA | c.488A>G (p.Asp163Gly)
| gnomAD v4 |
17 | g.80105074A>T | CA8814880 | GAA | c.488A>T (p.Asp163Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105075C>A | CA401361647 | GAA | c.489C>A (p.Asp163Glu)
| |
17 | g.80105075C>G | CA401361648 | GAA | c.489C>G (p.Asp163Glu)
| |
17 | g.80105075C>T | CA502402491 | GAA | c.489C>T (p.Asp163=)
| gnomAD v4 |
17 | g.80105076A= | CA2277810816 | GAA | c.490A= (p.Ile164=)
| |
17 | g.80105076A>C | CA401361649 | GAA | c.490A>C (p.Ile164Leu)
| |
17 | g.80105076A>G | CA401361650 | GAA | c.490A>G (p.Ile164Val)
| |
17 | g.80105076A>T | CA401361651 | GAA | c.490A>T (p.Ile164Phe)
| dbSNP |
17 | g.80105077T>A | CA401361652 | GAA | c.491T>A (p.Ile164Asn)
| |
17 | g.80105077T>C | CA401361653 | GAA | c.491T>C (p.Ile164Thr)
| gnomAD v4 |
17 | g.80105077T>G | CA401361654 | GAA | c.491T>G (p.Ile164Ser)
| |
17 | g.80105078C>A | CA502402503 | GAA | c.492C>A (p.Ile164=)
| |
17 | g.80105078C>G | CA401361655 | GAA | c.492C>G (p.Ile164Met)
| |
17 | g.80105078C>T | CA502402498 | GAA | c.492C>T (p.Ile164=)
| |
17 | g.80105079C>A | CA401361657 | GAA | c.493C>A (p.Leu165Met)
| |
17 | g.80105079C>G | CA401361656 | GAA | c.493C>G (p.Leu165Val)
| |
17 | g.80105079C>T | CA502402506 | GAA | c.493C>T (p.Leu165=)
| ClinVar |
17 | g.80105079_80105080insAGCCGCAGGGTCAGGA | CA2839537745 | GAA | c.493_494insAGCCGCAGGGTCAGGA (p.Leu165GlnfsTer17)
| |
17 | g.80105080T>A | CA401361658 | GAA | c.494T>A (p.Leu165Gln)
| |
17 | g.80105080T>C | CA401361659 | GAA | c.494T>C (p.Leu165Pro)
| dbSNP |
17 | g.80105080T>G | CA401361660 | GAA | c.494T>G (p.Leu165Arg)
| gnomAD v4 |
17 | g.80105080T= | CA2277810817 | GAA | c.494T= (p.Leu165=)
| |
17 | g.80105081G>A | CA502402508 | GAA | c.495G>A (p.Leu165=)
| |
17 | g.80105081G>C | CA502402511 | GAA | c.495G>C (p.Leu165=)
| |
17 | g.80105081G>T | CA502402509 | GAA | c.495G>T (p.Leu165=)
| gnomAD v4 |
17 | g.80105082A>C | CA401361661 | GAA | c.496A>C (p.Thr166Pro)
| |
17 | g.80105082A>G | CA401361662 | GAA | c.496A>G (p.Thr166Ala)
| |
17 | g.80105082A>T | CA401361663 | GAA | c.496A>T (p.Thr166Ser)
| |
17 | g.80105083C>A | CA401361666 | GAA | c.497C>A (p.Thr166Asn)
| |
17 | g.80105083C>G | CA401361664 | GAA | c.497C>G (p.Thr166Ser)
| |
17 | g.80105083C>T | CA401361665 | GAA | c.497C>T (p.Thr166Ile)
| ClinVar |
17 | g.80105084C>A | CA502402516 | GAA | c.498C>A (p.Thr166=)
| |
17 | g.80105084C= | CA2277810818 | GAA | c.498C= (p.Thr166=)
| |
17 | g.80105084C>G | CA502402518 | GAA | c.498C>G (p.Thr166=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105084C>T | CA502402519 | GAA | c.498C>T (p.Thr166=)
| ClinVar gnomAD v4 |
17 | g.80105085C>A | CA401361667 | GAA | c.499C>A (p.Leu167Met)
| |
17 | g.80105085C>G | CA401361668 | GAA | c.499C>G (p.Leu167Val)
| |
17 | g.80105085C>T | CA502402521 | GAA | c.499C>T (p.Leu167=)
| ClinVar |
17 | g.80105086T>A | CA401361669 | GAA | c.500T>A (p.Leu167Gln)
| gnomAD v4 |
17 | g.80105086T>C | CA401361670 | GAA | c.500T>C (p.Leu167Pro)
| |
17 | g.80105086T>G | CA401361671 | GAA | c.500T>G (p.Leu167Arg)
| |
17 | g.80105087G>A | CA502402524 | GAA | c.501G>A (p.Leu167=)
| ClinVar dbSNP |
17 | g.80105087G>C | CA502402526 | GAA | c.501G>C (p.Leu167=)
| |
17 | g.80105087G= | CA2277810819 | GAA | c.501G= (p.Leu167=)
| |
17 | g.80105087G>T | CA502402525 | GAA | c.501G>T (p.Leu167=)
| |
17 | g.80105087dup | CA2840238195 | GAA | c.501dup (p.Arg168AlafsTer9)
| |
17 | g.80105087_80105088delinsAA | CA2573154928 | GAA | c.501_502delinsAA (p.Leu167=)
| ClinVar dbSNP |
17 | g.80105088C>A | CA8814881 | GAA | c.502C>A (p.Arg168=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80105088C= | CA2277810820 | GAA | c.502C= (p.Arg168=)
| |
17 | g.80105088C>G | CA401361672 | GAA | c.502C>G (p.Arg168Gly)
| |
17 | g.80105088C>T | CA8814882 | GAA | c.502C>T (p.Arg168Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105089G>A | CA8814884 | GAA | c.503G>A (p.Arg168Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105089G>C | CA401361673 | GAA | c.503G>C (p.Arg168Pro)
| ClinVar dbSNP |
17 | g.80105089G= | CA2277810821 | GAA | c.503G= (p.Arg168=)
| |
17 | g.80105089G>T | CA8814883 | GAA | c.503G>T (p.Arg168Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105090dup | CA2840238196 | GAA | c.504dup (p.Leu169AlafsTer8)
| |
17 | g.80105090G>A | CA502402532 | GAA | c.504G>A (p.Arg168=)
| |
17 | g.80105090G>C | CA502402533 | GAA | c.504G>C (p.Arg168=)
| |
17 | g.80105090G>T | CA502402534 | GAA | c.504G>T (p.Arg168=)
| ClinVar gnomAD v4 |
17 | g.80105091C>A | CA401361677 | GAA | c.505C>A (p.Leu169Met)
| |
17 | g.80105091C>G | CA401361680 | GAA | c.505C>G (p.Leu169Val)
| |
17 | g.80105091C>T | CA502402537 | GAA | c.505C>T (p.Leu169=)
| |
17 | g.80105092T>A | CA401361687 | GAA | c.506T>A (p.Leu169Gln)
| |
17 | g.80105092T>C | CA401361685 | GAA | c.506T>C (p.Leu169Pro)
| ClinVar |
17 | g.80105092T>G | CA401361683 | GAA | c.506T>G (p.Leu169Arg)
| |
17 | g.80105093G>A | CA502402541 | GAA | c.507G>A (p.Leu169=)
| gnomAD v4 |
17 | g.80105093G>C | CA502402542 | GAA | c.507G>C (p.Leu169=)
| |
17 | g.80105093G= | CA2277810822 | GAA | c.507G= (p.Leu169=)
| |
17 | g.80105093G>T | CA502402543 | GAA | c.507G>T (p.Leu169=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105094G>A | CA401361691 | GAA | c.508G>A (p.Asp170Asn)
| |
17 | g.80105094G>C | CA401361693 | GAA | c.508G>C (p.Asp170His)
| |
17 | g.80105094G>T | CA401361695 | GAA | c.508G>T (p.Asp170Tyr)
| |
17 | g.80105095A= | CA2277810823 | GAA | c.509A= (p.Asp170=)
| |
17 | g.80105095A>C | CA401361698 | GAA | c.509A>C (p.Asp170Ala)
| |
17 | g.80105095A>G | CA294887359 | GAA | c.509A>G (p.Asp170Gly)
| dbSNP gnomAD v4 |
17 | g.80105095A>T | CA401361702 | GAA | c.509A>T (p.Asp170Val)
| |
17 | g.80105096C>A | CA401361705 | GAA | c.510C>A (p.Asp170Glu)
| dbSNP |
17 | g.80105096C= | CA2277810824 | GAA | c.510C= (p.Asp170=)
| |
17 | g.80105096C>G | CA401361704 | GAA | c.510C>G (p.Asp170Glu)
| |
17 | g.80105096C>T | CA8814885 | GAA | c.510C>T (p.Asp170=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105097del | CA2573054600 | GAA | c.511del (p.Val171Ter)
| ClinVar dbSNP |
17 | g.80105097G>A | CA10651252 | GAA | c.511G>A (p.Val171Met)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105097G>C | CA401361709 | GAA | c.511G>C (p.Val171Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105097G= | CA2277810825 | GAA | c.511G= (p.Val171=)
| |
17 | g.80105097G>T | CA401361711 | GAA | c.511G>T (p.Val171Leu)
| |
17 | g.80105098T>A | CA401361714 | GAA | c.512T>A (p.Val171Glu)
| |
17 | g.80105098T>C | CA401361716 | GAA | c.512T>C (p.Val171Ala)
| |
17 | g.80105098T>G | CA401361718 | GAA | c.512T>G (p.Val171Gly)
| |
17 | g.80105103_80105105del | CA891862611 | GAA | c.517_519del (p.Met173del)
| |
17 | g.80105099G>A | CA502402552 | GAA | c.513G>A (p.Val171=)
| |
17 | g.80105099G>C | CA502402553 | GAA | c.513G>C (p.Val171=)
| ClinVar dbSNP gnomAD v2 |
17 | g.80105099G= | CA2277810826 | GAA | c.513G= (p.Val171=)
| |
17 | g.80105099G>T | CA502402554 | GAA | c.513G>T (p.Val171=)
| gnomAD v4 |
17 | g.80105100A= | CA2277810827 | GAA | c.514A= (p.Met172=)
| |
17 | g.80105100A>C | CA401361722 | GAA | c.514A>C (p.Met172Leu)
| |
17 | g.80105100A>G | CA401361724 | GAA | c.514A>G (p.Met172Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105100A>T | CA401361726 | GAA | c.514A>T (p.Met172Leu)
| gnomAD v4 |
17 | g.80105101del | CA2640276230 | GAA | c.515del (p.Met172ArgfsTer?)
| gnomAD v4 |
17 | g.80105101T>A | CA401361729 | GAA | c.515T>A (p.Met172Lys)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105101T>C | CA401361732 | GAA | c.515T>C (p.Met172Thr)
| ClinVar gnomAD v4 |
17 | g.80105101T>G | CA401361733 | GAA | c.515T>G (p.Met172Arg)
| |
17 | g.80105101T= | CA2277810828 | GAA | c.515T= (p.Met172=)
| |
17 | g.80105102G>A | CA401361736 | GAA | c.516G>A (p.Met172Ile)
| gnomAD v4 |
17 | g.80105102G>C | CA401361741 | GAA | c.516G>C (p.Met172Ile)
| |
17 | g.80105102G= | CA2277810829 | GAA | c.516G= (p.Met172=)
| |
17 | g.80105102G>T | CA401361738 | GAA | c.516G>T (p.Met172Ile)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105103A= | CA2277810830 | GAA | c.517A= (p.Met173=)
| |
17 | g.80105103A>C | CA401361744 | GAA | c.517A>C (p.Met173Leu)
| |
17 | g.80105103A>G | CA401361748 | GAA | c.517A>G (p.Met173Val)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105103A>T | CA401361746 | GAA | c.517A>T (p.Met173Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105104T>A | CA401361750 | GAA | c.518T>A (p.Met173Lys)
| |
17 | g.80105104T>C | CA401361752 | GAA | c.518T>C (p.Met173Thr)
| gnomAD v4 |
17 | g.80105104T>G | CA401361755 | GAA | c.518T>G (p.Met173Arg)
| |
17 | g.80105106_80105112del | CA2739265768 | GAA | c.520_526del (p.Glu174ArgfsTer?)
| ClinVar |
17 | g.80105105G>A | CA401361758 | GAA | c.519G>A (p.Met173Ile)
| |
17 | g.80105105G>C | CA401361760 | GAA | c.519G>C (p.Met173Ile)
| |
17 | g.80105105G>T | CA401361761 | GAA | c.519G>T (p.Met173Ile)
| |
17 | g.80105106G>A | CA401361764 | GAA | c.520G>A (p.Glu174Lys)
| COSMIC |
17 | g.80105106G>C | CA401361765 | GAA | c.520G>C (p.Glu174Gln)
| |
17 | g.80105106G>T | CA401361768 | GAA | c.520G>T (p.Glu174Ter)
| gnomAD v4 |
17 | g.80105107A>C | CA401361770 | GAA | c.521A>C (p.Glu174Ala)
| |
17 | g.80105107A>G | CA401361772 | GAA | c.521A>G (p.Glu174Gly)
| |
17 | g.80105107A>T | CA401361774 | GAA | c.521A>T (p.Glu174Val)
| gnomAD v4 |
17 | g.80105108G>A | CA502402566 | GAA | c.522G>A (p.Glu174=)
| ClinVar |
17 | g.80105108G>C | CA401361777 | GAA | c.522G>C (p.Glu174Asp)
| |
17 | g.80105108G= | CA2277810831 | GAA | c.522G= (p.Glu174=)
| |
17 | g.80105108G>T | CA8814886 | GAA | c.522G>T (p.Glu174Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80105109A>C | CA401361781 | GAA | c.523A>C (p.Thr175Pro)
| |
17 | g.80105109A>G | CA401361783 | GAA | c.523A>G (p.Thr175Ala)
| |
17 | g.80105109A>T | CA401361785 | GAA | c.523A>T (p.Thr175Ser)
| |
17 | g.80105110C>A | CA401361789 | GAA | c.524C>A (p.Thr175Asn)
| |
17 | g.80105110C= | CA2277810833 | GAA | c.524C= (p.Thr175=)
| |
17 | g.80105110C>G | CA401361791 | GAA | c.524C>G (p.Thr175Ser)
| |
17 | g.80105110C>T | CA401361792 | GAA | c.524C>T (p.Thr175Ile)
| gnomAD v4 |
17 | g.80105110_80105111del | CA913184732 | GAA | c.524_525del (p.Thr175ArgfsTer13)
| |
17 | g.80105110_80105111delinsCT | CA2277810832 | GAA | c.524_525delinsCT (p.Thr175=)
| |
17 | g.80105110_80105112delinsCTG | CA2277810834 | GAA | c.524_526delinsCTG (p.Thr175=)
| |
17 | g.80105111del | CA220406 | GAA | c.525del (p.Glu176ArgfsTer?)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105111T>A | CA502402580 | GAA | c.525T>A (p.Thr175=)
| |
17 | g.80105111T>C | CA502402579 | GAA | c.525T>C (p.Thr175=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80105111T>G | CA502402578 | GAA | c.525T>G (p.Thr175=)
| |
17 | g.80105111T= | CA2277810835 | GAA | c.525T= (p.Thr175=)
| |
17 | g.80105111dup | CA8814887 | GAA | c.525dup (p.Glu176Ter)
| dbSNP ExAC gnomAD v2 |
17 | g.80105111_80105112del | CA274328 | GAA | c.525_526del (p.Asn177ProfsTer11)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80105112del | CA401361805 | GAA | c.526del (p.Glu176ArgfsTer?)
| |
17 | g.80105112G>A | CA294887367 | GAA | c.526G>A (p.Glu176Lys)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105112G>C | CA401361801 | GAA | c.526G>C (p.Glu176Gln)
| COSMIC |
17 | g.80105112G= | CA2277810836 | GAA | c.526G= (p.Glu176=)
| |
17 | g.80105112G>T | CA401361802 | GAA | c.526G>T (p.Glu176Ter)
| gnomAD v4 |
17 | g.80105114_80105115del | CA2580612685 | GAA | c.528_529del (p.Asn177ProfsTer11)
| ClinVar dbSNP |
17 | g.80105113A>C | CA401361808 | GAA | c.527A>C (p.Glu176Ala)
| |
17 | g.80105113A>G | CA401361812 | GAA | c.527A>G (p.Glu176Gly)
| |
17 | g.80105113A>T | CA401361810 | GAA | c.527A>T (p.Glu176Val)
| |
17 | g.80105114G>A | CA502402582 | GAA | c.528G>A (p.Glu176=)
| gnomAD v4 |
17 | g.80105114G>C | CA401361814 | GAA | c.528G>C (p.Glu176Asp)
| |
17 | g.80105114G>T | CA401361816 | GAA | c.528G>T (p.Glu176Asp)
| gnomAD v4 |