17 | g.80104734_80107789del | CA658795223 | GAA | c.148_859-11del
| ClinVar |
17 | g.80104749G>A | CA401360370 | GAA | c.163G>A (p.Ala55Thr)
| |
17 | g.80104749G>C | CA401360371 | GAA | c.163G>C (p.Ala55Pro)
| |
17 | g.80104749G>T | CA401360372 | GAA | c.163G>T (p.Ala55Ser)
| |
17 | g.80104750C>A | CA401360373 | GAA | c.164C>A (p.Ala55Asp)
| |
17 | g.80104750C>G | CA401360374 | GAA | c.164C>G (p.Ala55Gly)
| |
17 | g.80104750C>T | CA401360375 | GAA | c.164C>T (p.Ala55Val)
| gnomAD v4 |
17 | g.80104751T>A | CA502177159 | GAA | c.165T>A (p.Ala55=)
| |
17 | g.80104751T>C | CA502177158 | GAA | c.165T>C (p.Ala55=)
| |
17 | g.80104751T>G | CA502177157 | GAA | c.165T>G (p.Ala55=)
| |
17 | g.80104752C>A | CA294886642 | GAA | c.166C>A (p.His56Asn)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104752C= | CA2277810616 | GAA | c.166C= (p.His56=)
| |
17 | g.80104752C>G | CA401360376 | GAA | c.166C>G (p.His56Asp)
| gnomAD v4 |
17 | g.80104752C>T | CA8814800 | GAA | c.166C>T (p.His56Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104753A= | CA2277810617 | GAA | c.167A= (p.His56=)
| |
17 | g.80104753A>C | CA401360377 | GAA | c.167A>C (p.His56Pro)
| |
17 | g.80104753A>G | CA401360378 | GAA | c.167A>G (p.His56Arg)
| |
17 | g.80104753A>T | CA294886644 | GAA | c.167A>T (p.His56Leu)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104754C>A | CA401360380 | GAA | c.168C>A (p.His56Gln)
| |
17 | g.80104754C= | CA2277810618 | GAA | c.168C= (p.His56=)
| |
17 | g.80104754C>G | CA401360379 | GAA | c.168C>G (p.His56Gln)
| |
17 | g.80104754C>T | CA8814801 | GAA | c.168C>T (p.His56=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104755C>A | CA401360382 | GAA | c.169C>A (p.Gln57Lys)
| |
17 | g.80104755C= | CA2277810619 | GAA | c.169C= (p.Gln57=)
| |
17 | g.80104755C>G | CA401360381 | GAA | c.169C>G (p.Gln57Glu)
| gnomAD v3 gnomAD v4 |
17 | g.80104755C>T | CA16041879 | GAA | c.169C>T (p.Gln57Ter)
| ClinVar dbSNP |
17 | g.80104756A= | CA2277810620 | GAA | c.170A= (p.Gln57=)
| |
17 | g.80104756A>C | CA401360383 | GAA | c.170A>C (p.Gln57Pro)
| |
17 | g.80104756A>G | CA401360385 | GAA | c.170A>G (p.Gln57Arg)
| dbSNP |
17 | g.80104756A>T | CA401360384 | GAA | c.170A>T (p.Gln57Leu)
| |
17 | g.80104757G>A | CA502177160 | GAA | c.171G>A (p.Gln57=)
| |
17 | g.80104757G>C | CA401360386 | GAA | c.171G>C (p.Gln57His)
| |
17 | g.80104757G>T | CA401360387 | GAA | c.171G>T (p.Gln57His)
| |
17 | g.80104758C>A | CA401360388 | GAA | c.172C>A (p.Gln58Lys)
| |
17 | g.80104758C= | CA2277810621 | GAA | c.172C= (p.Gln58=)
| |
17 | g.80104758C>G | CA401360389 | GAA | c.172C>G (p.Gln58Glu)
| |
17 | g.80104758C>T | CA274104 | GAA | c.172C>T (p.Gln58Ter)
| ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
17 | g.80104759A>C | CA401360390 | GAA | c.173A>C (p.Gln58Pro)
| |
17 | g.80104759A>G | CA401360391 | GAA | c.173A>G (p.Gln58Arg)
| |
17 | g.80104759A>T | CA401360392 | GAA | c.173A>T (p.Gln58Leu)
| |
17 | g.80104760G>A | CA502177161 | GAA | c.174G>A (p.Gln58=)
| gnomAD v4 |
17 | g.80104760G>C | CA294886669 | GAA | c.174G>C (p.Gln58His)
| dbSNP |
17 | g.80104760G= | CA2277810622 | GAA | c.174G= (p.Gln58=)
| |
17 | g.80104760G>T | CA401360393 | GAA | c.174G>T (p.Gln58His)
| |
17 | g.80104761G>A | CA401360394 | GAA | c.175G>A (p.Gly59Arg)
| |
17 | g.80104761G>C | CA8814802 | GAA | c.175G>C (p.Gly59Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104761G= | CA2277810623 | GAA | c.175G= (p.Gly59=)
| |
17 | g.80104761G>T | CA401360395 | GAA | c.175G>T (p.Gly59Ter)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104762G>A | CA8814803 | GAA | c.176G>A (p.Gly59Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104762G>C | CA401360397 | GAA | c.176G>C (p.Gly59Ala)
| |
17 | g.80104762G= | CA2277810624 | GAA | c.176G= (p.Gly59=)
| |
17 | g.80104762G>T | CA401360396 | GAA | c.176G>T (p.Gly59Val)
| |
17 | g.80104763A>C | CA502177162 | GAA | c.177A>C (p.Gly59=)
| |
17 | g.80104763A>G | CA502177163 | GAA | c.177A>G (p.Gly59=)
| |
17 | g.80104763A>T | CA502177164 | GAA | c.177A>T (p.Gly59=)
| |
17 | g.80104764G>A | CA401360398 | GAA | c.178G>A (p.Ala60Thr)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104764G>C | CA401360399 | GAA | c.178G>C (p.Ala60Pro)
| |
17 | g.80104764G= | CA2277810625 | GAA | c.178G= (p.Ala60=)
| |
17 | g.80104764G>T | CA401360400 | GAA | c.178G>T (p.Ala60Ser)
| gnomAD v4 |
17 | g.80104765C>A | CA401360401 | GAA | c.179C>A (p.Ala60Asp)
| dbSNP gnomAD v4 |
17 | g.80104765C= | CA2277810626 | GAA | c.179C= (p.Ala60=)
| |
17 | g.80104765C>G | CA401360402 | GAA | c.179C>G (p.Ala60Gly)
| gnomAD v4 |
17 | g.80104765C>T | CA401360403 | GAA | c.179C>T (p.Ala60Val)
| |
17 | g.80104766C>A | CA502177165 | GAA | c.180C>A (p.Ala60=)
| |
17 | g.80104766C= | CA2277810627 | GAA | c.180C= (p.Ala60=)
| |
17 | g.80104766C>G | CA502177166 | GAA | c.180C>G (p.Ala60=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104766C>T | CA502177167 | GAA | c.180C>T (p.Ala60=)
| |
17 | g.80104767A>C | CA401360404 | GAA | c.181A>C (p.Ser61Arg)
| |
17 | g.80104767A>G | CA401360405 | GAA | c.181A>G (p.Ser61Gly)
| |
17 | g.80104767A>T | CA401360406 | GAA | c.181A>T (p.Ser61Cys)
| |
17 | g.80104768G>A | CA401360409 | GAA | c.182G>A (p.Ser61Asn)
| |
17 | g.80104768G>C | CA401360408 | GAA | c.182G>C (p.Ser61Thr)
| |
17 | g.80104768G>T | CA401360407 | GAA | c.182G>T (p.Ser61Ile)
| |
17 | g.80104769C>A | CA401360410 | GAA | c.183C>A (p.Ser61Arg)
| dbSNP gnomAD v2 |
17 | g.80104769C= | CA2277810628 | GAA | c.183C= (p.Ser61=)
| |
17 | g.80104769C>G | CA401360411 | GAA | c.183C>G (p.Ser61Arg)
| |
17 | g.80104769C>T | CA294886678 | GAA | c.183C>T (p.Ser61=)
| ClinVar dbSNP |
17 | g.80104770A>C | CA502177168 | GAA | c.184A>C (p.Arg62=)
| |
17 | g.80104770A>G | CA401360412 | GAA | c.184A>G (p.Arg62Gly)
| |
17 | g.80104770A>T | CA401360413 | GAA | c.184A>T (p.Arg62Ter)
| |
17 | g.80104771G>A | CA401360414 | GAA | c.185G>A (p.Arg62Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104771G>C | CA401360415 | GAA | c.185G>C (p.Arg62Thr)
| |
17 | g.80104771G= | CA2277810629 | GAA | c.185G= (p.Arg62=)
| |
17 | g.80104771G>T | CA401360416 | GAA | c.185G>T (p.Arg62Ile)
| |
17 | g.80104772A>C | CA401360417 | GAA | c.186A>C (p.Arg62Ser)
| |
17 | g.80104772A>G | CA502177169 | GAA | c.186A>G (p.Arg62=)
| dbSNP |
17 | g.80104772A>T | CA401360418 | GAA | c.186A>T (p.Arg62Ser)
| |
17 | g.80104772_80104782dup | CA658795224 | GAA | c.186_196dup (p.Arg66HisfsTer?)
| |
17 | g.80104773C>A | CA401360419 | GAA | c.187C>A (p.Pro63Thr)
| |
17 | g.80104773C>G | CA401360420 | GAA | c.187C>G (p.Pro63Ala)
| |
17 | g.80104773C>T | CA401360421 | GAA | c.187C>T (p.Pro63Ser)
| gnomAD v4 |
17 | g.80104774C>A | CA401360424 | GAA | c.188C>A (p.Pro63Gln)
| gnomAD v4 |
17 | g.80104774C= | CA2277810630 | GAA | c.188C= (p.Pro63=)
| |
17 | g.80104774C>G | CA401360422 | GAA | c.188C>G (p.Pro63Arg)
| |
17 | g.80104774C>T | CA401360423 | GAA | c.188C>T (p.Pro63Leu)
| dbSNP gnomAD v2 |
17 | g.80104775A= | CA2277810631 | GAA | c.189A= (p.Pro63=)
| |
17 | g.80104775A>C | CA502177173 | GAA | c.189A>C (p.Pro63=)
| ClinVar |
17 | g.80104775A>G | CA502177172 | GAA | c.189A>G (p.Pro63=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104775A>T | CA502177171 | GAA | c.189A>T (p.Pro63=)
| |
17 | g.80104776G>A | CA401360425 | GAA | c.190G>A (p.Gly64Arg)
| |
17 | g.80104776G>C | CA401360426 | GAA | c.190G>C (p.Gly64Arg)
| |
17 | g.80104776G>T | CA401360427 | GAA | c.190G>T (p.Gly64Trp)
| COSMIC |
17 | g.80104777G>A | CA294886682 | GAA | c.191G>A (p.Gly64Glu)
| dbSNP |
17 | g.80104777G>C | CA401360428 | GAA | c.191G>C (p.Gly64Ala)
| |
17 | g.80104777G= | CA2277810632 | GAA | c.191G= (p.Gly64=)
| |
17 | g.80104777G>T | CA401360429 | GAA | c.191G>T (p.Gly64Val)
| |
17 | g.80104778G>A | CA502177175 | GAA | c.192G>A (p.Gly64=)
| gnomAD v4 |
17 | g.80104778G>C | CA502177176 | GAA | c.192G>C (p.Gly64=)
| |
17 | g.80104778G>T | CA502177177 | GAA | c.192G>T (p.Gly64=)
| |
17 | g.80104779C>A | CA401360430 | GAA | c.193C>A (p.Pro65Thr)
| dbSNP |
17 | g.80104779C= | CA2277810633 | GAA | c.193C= (p.Pro65=)
| |
17 | g.80104779C>G | CA401360431 | GAA | c.193C>G (p.Pro65Ala)
| |
17 | g.80104779C>T | CA401360432 | GAA | c.193C>T (p.Pro65Ser)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104780C>A | CA401360433 | GAA | c.194C>A (p.Pro65His)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104780C= | CA2277810634 | GAA | c.194C= (p.Pro65=)
| |
17 | g.80104780C>G | CA401360434 | GAA | c.194C>G (p.Pro65Arg)
| gnomAD v4 |
17 | g.80104780C>T | CA401360435 | GAA | c.194C>T (p.Pro65Leu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104781C>A | CA502177178 | GAA | c.195C>A (p.Pro65=)
| |
17 | g.80104781C>G | CA502177179 | GAA | c.195C>G (p.Pro65=)
| |
17 | g.80104781C>T | CA502177180 | GAA | c.195C>T (p.Pro65=)
| |
17 | g.80104782C>A | CA502177181 | GAA | c.196C>A (p.Arg66=)
| |
17 | g.80104782C= | CA2277810635 | GAA | c.196C= (p.Arg66=)
| |
17 | g.80104782C>G | CA401360436 | GAA | c.196C>G (p.Arg66Gly)
| gnomAD v4 |
17 | g.80104782C>T | CA294886701 | GAA | c.196C>T (p.Arg66Trp)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104783G>A | CA8814804 | GAA | c.197G>A (p.Arg66Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104783G>C | CA401360437 | GAA | c.197G>C (p.Arg66Pro)
| |
17 | g.80104783G= | CA2277810636 | GAA | c.197G= (p.Arg66=)
| |
17 | g.80104783G>T | CA401360438 | GAA | c.197G>T (p.Arg66Leu)
| |
17 | g.80104785del | CA2499224997 | GAA | c.199del (p.Asp67MetfsTer?)
| ClinVar dbSNP |
17 | g.80104784G>A | CA502177182 | GAA | c.198G>A (p.Arg66=)
| ClinVar dbSNP |
17 | g.80104784G>C | CA502177183 | GAA | c.198G>C (p.Arg66=)
| |
17 | g.80104784G>T | CA502177184 | GAA | c.198G>T (p.Arg66=)
| |
17 | g.80104785G>A | CA401360439 | GAA | c.199G>A (p.Asp67Asn)
| |
17 | g.80104785G>C | CA401360440 | GAA | c.199G>C (p.Asp67His)
| |
17 | g.80104785G>T | CA401360441 | GAA | c.199G>T (p.Asp67Tyr)
| |
17 | g.80104786A>C | CA401360442 | GAA | c.200A>C (p.Asp67Ala)
| |
17 | g.80104786A>G | CA401360443 | GAA | c.200A>G (p.Asp67Gly)
| |
17 | g.80104786A>T | CA401360444 | GAA | c.200A>T (p.Asp67Val)
| |
17 | g.80104787T>A | CA401360445 | GAA | c.201T>A (p.Asp67Glu)
| |
17 | g.80104787T>C | CA502177185 | GAA | c.201T>C (p.Asp67=)
| |
17 | g.80104787T>G | CA401360446 | GAA | c.201T>G (p.Asp67Glu)
| |
17 | g.80104788G>A | CA401360447 | GAA | c.202G>A (p.Ala68Thr)
| |
17 | g.80104788G>C | CA401360448 | GAA | c.202G>C (p.Ala68Pro)
| |
17 | g.80104788G= | CA2277810637 | GAA | c.202G= (p.Ala68=)
| |
17 | g.80104788G>T | CA401360449 | GAA | c.202G>T (p.Ala68Ser)
| dbSNP gnomAD v4 |
17 | g.80104789C>A | CA401360452 | GAA | c.203C>A (p.Ala68Asp)
| |
17 | g.80104789C>G | CA401360451 | GAA | c.203C>G (p.Ala68Gly)
| |
17 | g.80104789C>T | CA401360450 | GAA | c.203C>T (p.Ala68Val)
| gnomAD v4 |
17 | g.80104791del | CA645599493 | GAA | c.205del (p.Gln69ArgfsTer?)
| COSMIC |
17 | g.80104790C>A | CA502177186 | GAA | c.204C>A (p.Ala68=)
| |
17 | g.80104790C>G | CA502177187 | GAA | c.204C>G (p.Ala68=)
| |
17 | g.80104790C>T | CA502177188 | GAA | c.204C>T (p.Ala68=)
| ClinVar dbSNP |
17 | g.80104791C>A | CA401360453 | GAA | c.205C>A (p.Gln69Lys)
| |
17 | g.80104791C= | CA2277810638 | GAA | c.205C= (p.Gln69=)
| |
17 | g.80104791C>G | CA8814805 | GAA | c.205C>G (p.Gln69Glu)
| ClinVar dbSNP ExAC gnomAD v4 |
17 | g.80104791C>T | CA8814806 | GAA | c.205C>T (p.Gln69Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104792A= | CA2277810639 | GAA | c.206A= (p.Gln69=)
| |
17 | g.80104792A>C | CA401360454 | GAA | c.206A>C (p.Gln69Pro)
| |
17 | g.80104792A>G | CA8814807 | GAA | c.206A>G (p.Gln69Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104792A>T | CA401360455 | GAA | c.206A>T (p.Gln69Leu)
| |
17 | g.80104793G>A | CA502177192 | GAA | c.207G>A (p.Gln69=)
| ClinVar dbSNP |
17 | g.80104793G>C | CA401360456 | GAA | c.207G>C (p.Gln69His)
| |
17 | g.80104793G= | CA2277810640 | GAA | c.207G= (p.Gln69=)
| |
17 | g.80104793G>T | CA401360457 | GAA | c.207G>T (p.Gln69His)
| |
17 | g.80104794G>A | CA401360458 | GAA | c.208G>A (p.Ala70Thr)
| |
17 | g.80104794G>C | CA401360459 | GAA | c.208G>C (p.Ala70Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104794G= | CA2277810641 | GAA | c.208G= (p.Ala70=)
| |
17 | g.80104794G>T | CA401360460 | GAA | c.208G>T (p.Ala70Ser)
| |
17 | g.80104795C>A | CA8814808 | GAA | c.209C>A (p.Ala70Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104795C= | CA2277810642 | GAA | c.209C= (p.Ala70=)
| |
17 | g.80104795C>G | CA401360461 | GAA | c.209C>G (p.Ala70Gly)
| |
17 | g.80104795C>T | CA401360462 | GAA | c.209C>T (p.Ala70Val)
| |
17 | g.80104796A>C | CA502402163 | GAA | c.210A>C (p.Ala70=)
| |
17 | g.80104796A>G | CA502402164 | GAA | c.210A>G (p.Ala70=)
| |
17 | g.80104796A>T | CA502402165 | GAA | c.210A>T (p.Ala70=)
| |
17 | g.80104797C>A | CA401360464 | GAA | c.211C>A (p.His71Asn)
| |
17 | g.80104797C>G | CA401360465 | GAA | c.211C>G (p.His71Asp)
| |
17 | g.80104797C>T | CA401360463 | GAA | c.211C>T (p.His71Tyr)
| gnomAD v4 |
17 | g.80104798A= | CA2277810643 | GAA | c.212A= (p.His71=)
| |
17 | g.80104798A>C | CA401360466 | GAA | c.212A>C (p.His71Pro)
| |
17 | g.80104798A>G | CA8814809 | GAA | c.212A>G (p.His71Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104798A>T | CA401360467 | GAA | c.212A>T (p.His71Leu)
| |
17 | g.80104799C>A | CA8814810 | GAA | c.213C>A (p.His71Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104799C= | CA2277810644 | GAA | c.213C= (p.His71=)
| |
17 | g.80104799C>G | CA401360468 | GAA | c.213C>G (p.His71Gln)
| |
17 | g.80104799C>T | CA502402166 | GAA | c.213C>T (p.His71=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104800C>A | CA294886764 | GAA | c.214C>A (p.Pro72Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104800C= | CA2277810645 | GAA | c.214C= (p.Pro72=)
| |
17 | g.80104800C>G | CA401360469 | GAA | c.214C>G (p.Pro72Ala)
| |
17 | g.80104800C>T | CA401360470 | GAA | c.214C>T (p.Pro72Ser)
| gnomAD v4 |
17 | g.80104801C>A | CA401360471 | GAA | c.215C>A (p.Pro72His)
| |
17 | g.80104801C>G | CA401360472 | GAA | c.215C>G (p.Pro72Arg)
| |
17 | g.80104801C>T | CA401360473 | GAA | c.215C>T (p.Pro72Leu)
| |
17 | g.80104802C>A | CA502402167 | GAA | c.216C>A (p.Pro72=)
| gnomAD v4 |
17 | g.80104802C= | CA2277810646 | GAA | c.216C= (p.Pro72=)
| |
17 | g.80104802C>G | CA502402168 | GAA | c.216C>G (p.Pro72=)
| gnomAD v4 |
17 | g.80104802C>T | CA8814811 | GAA | c.216C>T (p.Pro72=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104803G>A | CA8814813 | GAA | c.217G>A (p.Gly73Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104803G>C | CA401360474 | GAA | c.217G>C (p.Gly73Arg)
| |
17 | g.80104803G= | CA2277810647 | GAA | c.217G= (p.Gly73=)
| |
17 | g.80104803G>T | CA401360475 | GAA | c.217G>T (p.Gly73Cys)
| ClinVar dbSNP |
17 | g.80104804dup | CA8814812 | GAA | c.218dup (p.Arg74ProfsTer22)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104804G>A | CA401360476 | GAA | c.218G>A (p.Gly73Asp)
| |
17 | g.80104804G>C | CA401360477 | GAA | c.218G>C (p.Gly73Ala)
| |
17 | g.80104804G>T | CA401360478 | GAA | c.218G>T (p.Gly73Val)
| |
17 | g.80104805C>A | CA502402169 | GAA | c.219C>A (p.Gly73=)
| |
17 | g.80104805C>G | CA502402170 | GAA | c.219C>G (p.Gly73=)
| |
17 | g.80104805C>T | CA502402171 | GAA | c.219C>T (p.Gly73=)
| COSMIC |
17 | g.80104806C>A | CA401360479 | GAA | c.220C>A (p.Arg74Ser)
| |
17 | g.80104806C= | CA2277810648 | GAA | c.220C= (p.Arg74=)
| |
17 | g.80104806C>G | CA401360480 | GAA | c.220C>G (p.Arg74Gly)
| |
17 | g.80104806C>T | CA401360481 | GAA | c.220C>T (p.Arg74Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104807G>A | CA8814814 | GAA | c.221G>A (p.Arg74His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104807G>C | CA8814815 | GAA | c.221G>C (p.Arg74Pro)
| dbSNP ExAC gnomAD v4 |
17 | g.80104807G= | CA2277810649 | GAA | c.221G= (p.Arg74=)
| |
17 | g.80104807G>T | CA401360482 | GAA | c.221G>T (p.Arg74Leu)
| gnomAD v4 |
17 | g.80104808T>A | CA502402174 | GAA | c.222T>A (p.Arg74=)
| |
17 | g.80104808T>C | CA502402172 | GAA | c.222T>C (p.Arg74=)
| |
17 | g.80104808T>G | CA502402173 | GAA | c.222T>G (p.Arg74=)
| |
17 | g.80104809C>A | CA401360483 | GAA | c.223C>A (p.Pro75Thr)
| |
17 | g.80104809C= | CA2277810650 | GAA | c.223C= (p.Pro75=)
| |
17 | g.80104809C>G | CA401360484 | GAA | c.223C>G (p.Pro75Ala)
| |
17 | g.80104809C>T | CA8814816 | GAA | c.223C>T (p.Pro75Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104810C>A | CA401360486 | GAA | c.224C>A (p.Pro75His)
| |
17 | g.80104810C= | CA2277810651 | GAA | c.224C= (p.Pro75=)
| |
17 | g.80104810C>G | CA401360487 | GAA | c.224C>G (p.Pro75Arg)
| ClinVar dbSNP |
17 | g.80104810C>T | CA401360485 | GAA | c.224C>T (p.Pro75Leu)
| |
17 | g.80104811C>A | CA502402175 | GAA | c.225C>A (p.Pro75=)
| |
17 | g.80104811C>G | CA502402176 | GAA | c.225C>G (p.Pro75=)
| |
17 | g.80104811C>T | CA502402177 | GAA | c.225C>T (p.Pro75=)
| |
17 | g.80104812A>C | CA502402178 | GAA | c.226A>C (p.Arg76=)
| |
17 | g.80104812A>G | CA401360488 | GAA | c.226A>G (p.Arg76Gly)
| |
17 | g.80104812A>T | CA401360489 | GAA | c.226A>T (p.Arg76Ter)
| |
17 | g.80104813G>A | CA401360490 | GAA | c.227G>A (p.Arg76Lys)
| |
17 | g.80104813G>C | CA401360492 | GAA | c.227G>C (p.Arg76Thr)
| gnomAD v4 |
17 | g.80104813G= | CA2277810652 | GAA | c.227G= (p.Arg76=)
| |
17 | g.80104813G>T | CA401360491 | GAA | c.227G>T (p.Arg76Ile)
| gnomAD v4 |
17 | g.80104814A= | CA2277810653 | GAA | c.228A= (p.Arg76=)
| |
17 | g.80104814A>C | CA401360493 | GAA | c.228A>C (p.Arg76Ser)
| |
17 | g.80104814A>G | CA502402179 | GAA | c.228A>G (p.Arg76=)
| |
17 | g.80104814A>T | CA401360494 | GAA | c.228A>T (p.Arg76Ser)
| |
17 | g.80104816_80104818dup | CA775508124 | GAA | c.230_232dup (p.Ala77_Val78insAla)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104814_80104815insAGC | CA1139665915 | GAA | c.228_229insAGC (p.Arg76_Ala77insSer)
| |
17 | g.80104815G>A | CA401360495 | GAA | c.229G>A (p.Ala77Thr)
| |
17 | g.80104815G>C | CA8814817 | GAA | c.229G>C (p.Ala77Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104815G= | CA2277810654 | GAA | c.229G= (p.Ala77=)
| |
17 | g.80104815G>T | CA401360496 | GAA | c.229G>T (p.Ala77Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104815_80104826delinsGCAGTGCCCACA | CA2277810655 | GAA | c.229_240delinsGCAGTGCCCACA (p.Ala77=)
| |
17 | g.80104816C>A | CA401360497 | GAA | c.230C>A (p.Ala77Glu)
| |
17 | g.80104816C= | CA2277810656 | GAA | c.230C= (p.Ala77=)
| |
17 | g.80104816C>G | CA401360498 | GAA | c.230C>G (p.Ala77Gly)
| |
17 | g.80104816C>T | CA401360499 | GAA | c.230C>T (p.Ala77Val)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104822_80104832del | CA16041880 | GAA | c.236_246del (p.Pro79ArgfsTer13)
| ClinVar dbSNP |
17 | g.80104817A= | CA2277810657 | GAA | c.231A= (p.Ala77=)
| |
17 | g.80104817A>C | CA502402180 | GAA | c.231A>C (p.Ala77=)
| |
17 | g.80104817A>G | CA8814818 | GAA | c.231A>G (p.Ala77=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104817A>T | CA502402181 | GAA | c.231A>T (p.Ala77=)
| |
17 | g.80104818G>A | CA401360500 | GAA | c.232G>A (p.Val78Met)
| |
17 | g.80104818G>C | CA401360501 | GAA | c.232G>C (p.Val78Leu)
| |
17 | g.80104818G>T | CA401360502 | GAA | c.232G>T (p.Val78Leu)
| |
17 | g.80104819T>A | CA401360505 | GAA | c.233T>A (p.Val78Glu)
| |
17 | g.80104819T>C | CA401360504 | GAA | c.233T>C (p.Val78Ala)
| gnomAD v4 |
17 | g.80104819T>G | CA401360503 | GAA | c.233T>G (p.Val78Gly)
| gnomAD v4 |
17 | g.80104820G>A | CA502402182 | GAA | c.234G>A (p.Val78=)
| |
17 | g.80104820G>C | CA502402183 | GAA | c.234G>C (p.Val78=)
| |
17 | g.80104820G= | CA2277810658 | GAA | c.234G= (p.Val78=)
| |
17 | g.80104820G>T | CA502402184 | GAA | c.234G>T (p.Val78=)
| ClinVar dbSNP |
17 | g.80104821C>A | CA401360506 | GAA | c.235C>A (p.Pro79Thr)
| |
17 | g.80104821C= | CA2277810659 | GAA | c.235C= (p.Pro79=)
| |
17 | g.80104821C>G | CA401360507 | GAA | c.235C>G (p.Pro79Ala)
| |
17 | g.80104821C>T | CA8814819 | GAA | c.235C>T (p.Pro79Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104822C>A | CA401360508 | GAA | c.236C>A (p.Pro79His)
| |
17 | g.80104822C>G | CA401360509 | GAA | c.236C>G (p.Pro79Arg)
| |
17 | g.80104822C>T | CA401360510 | GAA | c.236C>T (p.Pro79Leu)
| |
17 | g.80104823C>A | CA502402185 | GAA | c.237C>A (p.Pro79=)
| |
17 | g.80104823C= | CA2277810660 | GAA | c.237C= (p.Pro79=)
| |
17 | g.80104823C>G | CA502402186 | GAA | c.237C>G (p.Pro79=)
| |
17 | g.80104823C>T | CA502402187 | GAA | c.237C>T (p.Pro79=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104824A>C | CA401360511 | GAA | c.238A>C (p.Thr80Pro)
| |
17 | g.80104824A>G | CA401360512 | GAA | c.238A>G (p.Thr80Ala)
| |
17 | g.80104824A>T | CA401360513 | GAA | c.238A>T (p.Thr80Ser)
| |
17 | g.80104825C>A | CA401360514 | GAA | c.239C>A (p.Thr80Lys)
| |
17 | g.80104825C>G | CA401360515 | GAA | c.239C>G (p.Thr80Arg)
| |
17 | g.80104825C>T | CA401360516 | GAA | c.239C>T (p.Thr80Ile)
| gnomAD v4 |
17 | g.80104826A= | CA2277810661 | GAA | c.240A= (p.Thr80=)
| |
17 | g.80104826A>C | CA502402188 | GAA | c.240A>C (p.Thr80=)
| gnomAD v4 |
17 | g.80104826A>G | CA8814820 | GAA | c.240A>G (p.Thr80=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104826A>T | CA502402189 | GAA | c.240A>T (p.Thr80=)
| |
17 | g.80104827C>A | CA401360519 | GAA | c.241C>A (p.Gln81Lys)
| |
17 | g.80104827C= | CA2277810662 | GAA | c.241C= (p.Gln81=)
| |
17 | g.80104827C>G | CA401360517 | GAA | c.241C>G (p.Gln81Glu)
| |
17 | g.80104827C>T | CA401360518 | GAA | c.241C>T (p.Gln81Ter)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104828del | CA2739265767 | GAA | c.242del (p.Gln81ArgfsTer?)
| ClinVar |
17 | g.80104828A= | CA2277810663 | GAA | c.242A= (p.Gln81=)
| |
17 | g.80104828A>C | CA401360520 | GAA | c.242A>C (p.Gln81Pro)
| |
17 | g.80104828A>G | CA401360521 | GAA | c.242A>G (p.Gln81Arg)
| dbSNP |
17 | g.80104828A>T | CA401360522 | GAA | c.242A>T (p.Gln81Leu)
| |
17 | g.80104829G>A | CA502402190 | GAA | c.243G>A (p.Gln81=)
| |
17 | g.80104829G>C | CA401360523 | GAA | c.243G>C (p.Gln81His)
| |
17 | g.80104829G= | CA2277810664 | GAA | c.243G= (p.Gln81=)
| |
17 | g.80104829G>T | CA401360524 | GAA | c.243G>T (p.Gln81His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104830T>A | CA401360525 | GAA | c.244T>A (p.Cys82Ser)
| |
17 | g.80104830T>C | CA401360526 | GAA | c.244T>C (p.Cys82Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104830T>G | CA401360527 | GAA | c.244T>G (p.Cys82Gly)
| gnomAD v4 |
17 | g.80104830T= | CA2277810665 | GAA | c.244T= (p.Cys82=)
| |
17 | g.80104831G>A | CA401360528 | GAA | c.245G>A (p.Cys82Tyr)
| |
17 | g.80104831G>C | CA401360529 | GAA | c.245G>C (p.Cys82Ser)
| |
17 | g.80104831G>T | CA401360530 | GAA | c.245G>T (p.Cys82Phe)
| |
17 | g.80104832C>A | CA401360532 | GAA | c.246C>A (p.Cys82Ter)
| ClinVar dbSNP |
17 | g.80104832C= | CA2277810666 | GAA | c.246C= (p.Cys82=)
| |
17 | g.80104832C>G | CA401360531 | GAA | c.246C>G (p.Cys82Trp)
| |
17 | g.80104832C>T | CA8814821 | GAA | c.246C>T (p.Cys82=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104833G>A | CA8814822 | GAA | c.247G>A (p.Asp83Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104833G>C | CA401360533 | GAA | c.247G>C (p.Asp83His)
| |
17 | g.80104833G= | CA2277810667 | GAA | c.247G= (p.Asp83=)
| |
17 | g.80104833G>T | CA401360534 | GAA | c.247G>T (p.Asp83Tyr)
| |
17 | g.80104834A= | CA2277810668 | GAA | c.248A= (p.Asp83=)
| |
17 | g.80104834A>C | CA401360535 | GAA | c.248A>C (p.Asp83Ala)
| |
17 | g.80104834A>G | CA401360536 | GAA | c.248A>G (p.Asp83Gly)
| |
17 | g.80104834A>T | CA8814823 | GAA | c.248A>T (p.Asp83Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104835C>A | CA401360537 | GAA | c.249C>A (p.Asp83Glu)
| |
17 | g.80104835C= | CA2277810669 | GAA | c.249C= (p.Asp83=)
| |
17 | g.80104835C>G | CA401360538 | GAA | c.249C>G (p.Asp83Glu)
| |
17 | g.80104835C>T | CA8814824 | GAA | c.249C>T (p.Asp83=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104836G>A | CA8814825 | GAA | c.250G>A (p.Val84Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104836G>C | CA401360539 | GAA | c.250G>C (p.Val84Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104836G= | CA2277810670 | GAA | c.250G= (p.Val84=)
| |
17 | g.80104836G>T | CA401360540 | GAA | c.250G>T (p.Val84Phe)
| |
17 | g.80104837T>A | CA401360541 | GAA | c.251T>A (p.Val84Asp)
| |
17 | g.80104837T>C | CA401360543 | GAA | c.251T>C (p.Val84Ala)
| COSMIC |
17 | g.80104837T>G | CA401360542 | GAA | c.251T>G (p.Val84Gly)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104837T= | CA2277810672 | GAA | c.251T= (p.Val84=)
| |
17 | g.80104837_80104838del | CA913014076 | GAA | c.251_252del (p.Val84AlafsTer11)
| |
17 | g.80104837_80104838delinsTC | CA2277810671 | GAA | c.251_252delinsTC (p.Val84=)
| |
17 | g.80104838C>A | CA294886919 | GAA | c.252C>A (p.Val84=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104838C= | CA2277810673 | GAA | c.252C= (p.Val84=)
| |
17 | g.80104838C>G | CA502402191 | GAA | c.252C>G (p.Val84=)
| |
17 | g.80104838C>T | CA8814827 | GAA | c.252C>T (p.Val84=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104844dup | CA8814826 | GAA | c.258dup (p.Asn87GlnfsTer9)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.80104844del | CA502402192 | GAA | c.258del (p.Asn87ThrfsTer?)
| ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.80104839C>A | CA401360544 | GAA | c.253C>A (p.Pro85Thr)
| |
17 | g.80104839C>G | CA401360545 | GAA | c.253C>G (p.Pro85Ala)
| |
17 | g.80104839C>T | CA401360546 | GAA | c.253C>T (p.Pro85Ser)
| COSMIC |
17 | g.80104840C>A | CA401360547 | GAA | c.254C>A (p.Pro85His)
| |
17 | g.80104840C>G | CA401360548 | GAA | c.254C>G (p.Pro85Arg)
| |
17 | g.80104840C>T | CA401360549 | GAA | c.254C>T (p.Pro85Leu)
| |
17 | g.80104841C>A | CA502402193 | GAA | c.255C>A (p.Pro85=)
| |
17 | g.80104841C= | CA2277810674 | GAA | c.255C= (p.Pro85=)
| |
17 | g.80104841C>G | CA502402194 | GAA | c.255C>G (p.Pro85=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104841C>T | CA502402195 | GAA | c.255C>T (p.Pro85=)
| dbSNP gnomAD v2 |
17 | g.80104842C>A | CA401360550 | GAA | c.256C>A (p.Pro86Thr)
| dbSNP |
17 | g.80104842C>G | CA401360551 | GAA | c.256C>G (p.Pro86Ala)
| gnomAD v4 |
17 | g.80104842C>T | CA401360552 | GAA | c.256C>T (p.Pro86Ser)
| dbSNP gnomAD v4 |
17 | g.80104843C>A | CA294886928 | GAA | c.257C>A (p.Pro86His)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104843C= | CA1139532164 | GAA | c.257C= (p.Pro86=)
| |
17 | g.80104843C>G | CA8814828 | GAA | c.257C>G (p.Pro86Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104843C>T | CA401360553 | GAA | c.257C>T (p.Pro86Leu)
| |
17 | g.80104844C>A | CA8814829 | GAA | c.258C>A (p.Pro86=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104844C= | CA2277810675 | GAA | c.258C= (p.Pro86=)
| |
17 | g.80104844C>G | CA502402197 | GAA | c.258C>G (p.Pro86=)
| ClinVar |
17 | g.80104844C>T | CA502402196 | GAA | c.258C>T (p.Pro86=)
| |
17 | g.80104845A= | CA2277810676 | GAA | c.259A= (p.Asn87=)
| |
17 | g.80104845A>C | CA8814830 | GAA | c.259A>C (p.Asn87His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104845A>G | CA401360555 | GAA | c.259A>G (p.Asn87Asp)
| |
17 | g.80104845A>T | CA401360554 | GAA | c.259A>T (p.Asn87Tyr)
| |
17 | g.80104846A= | CA2277810677 | GAA | c.260A= (p.Asn87=)
| |
17 | g.80104846A>C | CA8814831 | GAA | c.260A>C (p.Asn87Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104846A>G | CA401360556 | GAA | c.260A>G (p.Asn87Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104846A>T | CA401360557 | GAA | c.260A>T (p.Asn87Ile)
| |
17 | g.80104847C>A | CA401360558 | GAA | c.261C>A (p.Asn87Lys)
| |
17 | g.80104847C= | CA2277810678 | GAA | c.261C= (p.Asn87=)
| |
17 | g.80104847C>G | CA294886998 | GAA | c.261C>G (p.Asn87Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104847C>T | CA502402198 | GAA | c.261C>T (p.Asn87=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104848A= | CA2277810679 | GAA | c.262A= (p.Ser88=)
| |
17 | g.80104848A>C | CA401360559 | GAA | c.262A>C (p.Ser88Arg)
| |
17 | g.80104848A>G | CA401360560 | GAA | c.262A>G (p.Ser88Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104848A>T | CA401360561 | GAA | c.262A>T (p.Ser88Cys)
| |
17 | g.80104849G>A | CA401360562 | GAA | c.263G>A (p.Ser88Asn)
| |
17 | g.80104849G>C | CA401360563 | GAA | c.263G>C (p.Ser88Thr)
| |
17 | g.80104849G>T | CA401360564 | GAA | c.263G>T (p.Ser88Ile)
| |