Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.42538614G>ACA2260527941NAGLUc.679-56G>A (n.679-56G>A)
c.281-56G>A
c.274-56G>A (n.274-56G>A)
c.-64-56G>A (n.-64-56G>A)
c.736-56G>A (n.736-56G>A)
 dbSNP gnomAD v4
17g.42538614G=CA2260527940NAGLUc.679-56G= (n.679-56G=)
c.281-56G=
c.274-56G= (n.274-56G=)
c.-64-56G= (n.-64-56G=)
c.736-56G= (n.736-56G=)
17g.42538614G>TCA2637969891NAGLUc.679-56G>T (n.679-56G>T)
c.281-56G>T
c.274-56G>T (n.274-56G>T)
c.-64-56G>T (n.-64-56G>T)
c.736-56G>T (n.736-56G>T)
 gnomAD v4
17g.42538615C>TCA2637969892NAGLUc.679-55C>T (n.679-55C>T)
c.281-55C>T
c.274-55C>T (n.274-55C>T)
c.-64-55C>T (n.-64-55C>T)
c.736-55C>T (n.736-55C>T)
 gnomAD v4
17g.42538618T>CCA2576295392NAGLUc.679-52T>C (n.679-52T>C)
c.281-52T>C
c.274-52T>C (n.274-52T>C)
c.-64-52T>C (n.-64-52T>C)
c.736-52T>C (n.736-52T>C)
17g.42538619C>ACA2260527942NAGLUc.679-51C>A (n.679-51C>A)
c.281-51C>A
c.274-51C>A (n.274-51C>A)
c.-64-51C>A (n.-64-51C>A)
c.736-51C>A (n.736-51C>A)
 dbSNP
17g.42538619C=CA2260527943NAGLUc.679-51C= (n.679-51C=)
c.281-51C=
c.274-51C= (n.274-51C=)
c.-64-51C= (n.-64-51C=)
c.736-51C= (n.736-51C=)
17g.42538619C>GCA626218577NAGLUc.679-51C>G (n.679-51C>G)
c.281-51C>G
c.274-51C>G (n.274-51C>G)
c.-64-51C>G (n.-64-51C>G)
c.736-51C>G (n.736-51C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42538619C>TCA772111410NAGLUc.679-51C>T (n.679-51C>T)
c.281-51C>T
c.274-51C>T (n.274-51C>T)
c.-64-51C>T (n.-64-51C>T)
c.736-51C>T (n.736-51C>T)
 dbSNP
17g.42538622A=CA2260527944NAGLUc.679-48A= (n.679-48A=)
c.281-48A=
c.274-48A= (n.274-48A=)
c.-64-48A= (n.-64-48A=)
c.736-48A= (n.736-48A=)
17g.42538622A>GCA8576821NAGLUc.679-48A>G (n.679-48A>G)
c.281-48A>G
c.274-48A>G (n.274-48A>G)
c.-64-48A>G (n.-64-48A>G)
c.736-48A>G (n.736-48A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42538623T>CCA8576822NAGLUc.679-47T>C (n.679-47T>C)
c.281-47T>C
c.274-47T>C (n.274-47T>C)
c.-64-47T>C (n.-64-47T>C)
c.736-47T>C (n.736-47T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42538623T=CA2260527945NAGLUc.679-47T= (n.679-47T=)
c.281-47T=
c.274-47T= (n.274-47T=)
c.-64-47T= (n.-64-47T=)
c.736-47T= (n.736-47T=)
17g.42538624A>GCA2567235643NAGLUc.679-46A>G (n.679-46A>G)
c.281-46A>G
c.274-46A>G (n.274-46A>G)
c.-64-46A>G (n.-64-46A>G)
c.736-46A>G (n.736-46A>G)
17g.42538625G>ACA2637969893NAGLUc.679-45G>A (n.679-45G>A)
c.281-45G>A
c.274-45G>A (n.274-45G>A)
c.-64-45G>A (n.-64-45G>A)
c.736-45G>A (n.736-45G>A)
 gnomAD v4
17g.42538626G>ACA8576823NAGLUc.679-44G>A (n.679-44G>A)
c.281-44G>A
c.274-44G>A (n.274-44G>A)
c.-64-44G>A (n.-64-44G>A)
c.736-44G>A (n.736-44G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42538626G=CA2260527946NAGLUc.679-44G= (n.679-44G=)
c.281-44G=
c.274-44G= (n.274-44G=)
c.-64-44G= (n.-64-44G=)
c.736-44G= (n.736-44G=)
17g.42538628C=CA2260527947NAGLUc.679-42C= (n.679-42C=)
c.281-42C=
c.274-42C= (n.274-42C=)
c.-64-42C= (n.-64-42C=)
c.736-42C= (n.736-42C=)
17g.42538628C>TCA626218578NAGLUc.679-42C>T (n.679-42C>T)
c.281-42C>T
c.274-42C>T (n.274-42C>T)
c.-64-42C>T (n.-64-42C>T)
c.736-42C>T (n.736-42C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42538630G>ACA2637969895NAGLUc.679-40G>A (n.679-40G>A)
c.281-40G>A
c.274-40G>A (n.274-40G>A)
c.-64-40G>A (n.-64-40G>A)
c.736-40G>A (n.736-40G>A)
 gnomAD v4
17g.42538630G>CCA8576824NAGLUc.679-40G>C (n.679-40G>C)
c.281-40G>C
c.274-40G>C (n.274-40G>C)
c.-64-40G>C (n.-64-40G>C)
c.736-40G>C (n.736-40G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42538630G=CA2260527948NAGLUc.679-40G= (n.679-40G=)
c.281-40G=
c.274-40G= (n.274-40G=)
c.-64-40G= (n.-64-40G=)
c.736-40G= (n.736-40G=)
17g.42538630G>TCA2637969894NAGLUc.679-40G>T (n.679-40G>T)
c.281-40G>T
c.274-40G>T (n.274-40G>T)
c.-64-40G>T (n.-64-40G>T)
c.736-40G>T (n.736-40G>T)
 gnomAD v4
17g.42538631C=CA2260527949NAGLUc.679-39C= (n.679-39C=)
c.281-39C=
c.274-39C= (n.274-39C=)
c.-64-39C= (n.-64-39C=)
c.736-39C= (n.736-39C=)
17g.42538631C>GCA8576825NAGLUc.679-39C>G (n.679-39C>G)
c.281-39C>G
c.274-39C>G (n.274-39C>G)
c.-64-39C>G (n.-64-39C>G)
c.736-39C>G (n.736-39C>G)
 dbSNP ExAC gnomAD v2
17g.42538631C>TCA2637969896NAGLUc.679-39C>T (n.679-39C>T)
c.281-39C>T
c.274-39C>T (n.274-39C>T)
c.-64-39C>T (n.-64-39C>T)
c.736-39C>T (n.736-39C>T)
 gnomAD v4
17g.42538633G>ACA8576826NAGLUc.679-37G>A (n.679-37G>A)
c.281-37G>A
c.274-37G>A (n.274-37G>A)
c.-64-37G>A (n.-64-37G>A)
c.736-37G>A (n.736-37G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42538633G=CA2260527950NAGLUc.679-37G= (n.679-37G=)
c.281-37G=
c.274-37G= (n.274-37G=)
c.-64-37G= (n.-64-37G=)
c.736-37G= (n.736-37G=)
17g.42538636G>ACA2637969897NAGLUc.679-34G>A (n.679-34G>A)
c.281-34G>A
c.274-34G>A (n.274-34G>A)
c.-64-34G>A (n.-64-34G>A)
c.736-34G>A (n.736-34G>A)
 gnomAD v4
17g.42538639A=CA2260527951NAGLUc.679-31A= (n.679-31A=)
c.281-31A=
c.274-31A= (n.274-31A=)
c.-64-31A= (n.-64-31A=)
c.736-31A= (n.736-31A=)
17g.42538639A>GCA626218579NAGLUc.679-31A>G (n.679-31A>G)
c.281-31A>G
c.274-31A>G (n.274-31A>G)
c.-64-31A>G (n.-64-31A>G)
c.736-31A>G (n.736-31A>G)
 dbSNP gnomAD v2 gnomAD v4
17g.42538643T>CCA2637969898NAGLUc.679-27T>C (n.679-27T>C)
c.281-27T>C
c.274-27T>C (n.274-27T>C)
c.-64-27T>C (n.-64-27T>C)
c.736-27T>C (n.736-27T>C)
 gnomAD v4
17g.42538644C>TCA2576295393NAGLUc.679-26C>T (n.679-26C>T)
c.281-26C>T
c.274-26C>T (n.274-26C>T)
c.-64-26C>T (n.-64-26C>T)
c.736-26C>T (n.736-26C>T)
 gnomAD v4
17g.42538645A=CA2260527952NAGLUc.679-25A= (n.679-25A=)
c.281-25A=
c.274-25A= (n.274-25A=)
c.-64-25A= (n.-64-25A=)
c.736-25A= (n.736-25A=)
17g.42538645A>GCA626218580NAGLUc.679-25A>G (n.679-25A>G)
c.281-25A>G
c.274-25A>G (n.274-25A>G)
c.-64-25A>G (n.-64-25A>G)
c.736-25A>G (n.736-25A>G)
 dbSNP gnomAD v2 gnomAD v4
17g.42538648A=CA2260527953NAGLUc.679-22A= (n.679-22A=)
c.281-22A=
c.274-22A= (n.274-22A=)
c.-64-22A= (n.-64-22A=)
c.736-22A= (n.736-22A=)
17g.42538648A>GCA8576827NAGLUc.679-22A>G (n.679-22A>G)
c.281-22A>G
c.274-22A>G (n.274-22A>G)
c.-64-22A>G (n.-64-22A>G)
c.736-22A>G (n.736-22A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42538649C=CA2260527954NAGLUc.679-21C= (n.679-21C=)
c.281-21C=
c.274-21C= (n.274-21C=)
c.-64-21C= (n.-64-21C=)
c.736-21C= (n.736-21C=)
17g.42538649C>TCA8576828NAGLUc.679-21C>T (n.679-21C>T)
c.281-21C>T
c.274-21C>T (n.274-21C>T)
c.-64-21C>T (n.-64-21C>T)
c.736-21C>T (n.736-21C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.42538651delCA2576295394NAGLUc.679-19del (n.679-19del)
c.281-19del
c.274-19del (n.274-19del)
c.-64-19del (n.-64-19del)
c.736-19del (n.736-19del)
 gnomAD v4
17g.42538649_42538653delinsCCCTTCA2260527955NAGLUc.679-21_679-17delinsCCCTT (n.679-21_679-17delinsCCCTT)
c.281-21_281-17delinsCCCTT
c.274-21_274-17delinsCCCTT (n.274-21_274-17delinsCCCTT)
c.-64-21_-64-17delinsCCCTT (n.-64-21_-64-17delinsCCCTT)
c.736-21_736-17delinsCCCTT (n.736-21_736-17delinsCCCTT)
17g.42538650C>ACA983829113NAGLUc.679-20C>A (n.679-20C>A)
c.281-20C>A
c.274-20C>A (n.274-20C>A)
c.-64-20C>A (n.-64-20C>A)
c.736-20C>A (n.736-20C>A)
 dbSNP gnomAD v3 gnomAD v4
17g.42538650C=CA2260527956NAGLUc.679-20C= (n.679-20C=)
c.281-20C=
c.274-20C= (n.274-20C=)
c.-64-20C= (n.-64-20C=)
c.736-20C= (n.736-20C=)
17g.42538650C>TCA2740095366NAGLUc.679-20C>T (n.679-20C>T)
c.281-20C>T
c.274-20C>T (n.274-20C>T)
c.-64-20C>T (n.-64-20C>T)
c.736-20C>T (n.736-20C>T)
 ClinVar
17g.42538655_42538658delCA919842902NAGLUc.679-15_679-12del (n.679-15_679-12del)
c.281-15_281-12del
c.274-15_274-12del (n.274-15_274-12del)
c.-64-15_-64-12del (n.-64-15_-64-12del)
c.736-15_736-12del (n.736-15_736-12del)
 ClinVar dbSNP
17g.42538651C=CA2260527957NAGLUc.679-19C= (n.679-19C=)
c.281-19C=
c.274-19C= (n.274-19C=)
c.-64-19C= (n.-64-19C=)
c.736-19C= (n.736-19C=)
17g.42538651C>GCA2260527958NAGLUc.679-19C>G (n.679-19C>G)
c.281-19C>G
c.274-19C>G (n.274-19C>G)
c.-64-19C>G (n.-64-19C>G)
c.736-19C>G (n.736-19C>G)
 ClinVar dbSNP gnomAD v4
17g.42538651C>TCA8576829NAGLUc.679-19C>T (n.679-19C>T)
c.281-19C>T
c.274-19C>T (n.274-19C>T)
c.-64-19C>T (n.-64-19C>T)
c.736-19C>T (n.736-19C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42538652T>ACA2576295395NAGLUc.679-18T>A (n.679-18T>A)
c.281-18T>A
c.274-18T>A (n.274-18T>A)
c.-64-18T>A (n.-64-18T>A)
c.736-18T>A (n.736-18T>A)
 ClinVar gnomAD v4
17g.42538654C=CA2260527959NAGLUc.679-16C= (n.679-16C=)
c.281-16C=
c.274-16C= (n.274-16C=)
c.-64-16C= (n.-64-16C=)
c.736-16C= (n.736-16C=)
17g.42538654C>GCA2576295396NAGLUc.679-16C>G (n.679-16C>G)
c.281-16C>G
c.274-16C>G (n.274-16C>G)
c.-64-16C>G (n.-64-16C>G)
c.736-16C>G (n.736-16C>G)
 ClinVar gnomAD v4
17g.42538654C>TCA2260527960NAGLUc.679-16C>T (n.679-16C>T)
c.281-16C>T
c.274-16C>T (n.274-16C>T)
c.-64-16C>T (n.-64-16C>T)
c.736-16C>T (n.736-16C>T)
 ClinVar dbSNP gnomAD v4
17g.42538655C=CA2260527961NAGLUc.679-15C= (n.679-15C=)
c.281-15C=
c.274-15C= (n.274-15C=)
c.-64-15C= (n.-64-15C=)
c.736-15C= (n.736-15C=)
17g.42538655C>TCA8576830NAGLUc.679-15C>T (n.679-15C>T)
c.281-15C>T
c.274-15C>T (n.274-15C>T)
c.-64-15C>T (n.-64-15C>T)
c.736-15C>T (n.736-15C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42538659T>GCA2580093983NAGLUc.679-11T>G (n.679-11T>G)
c.281-11T>G
c.274-11T>G (n.274-11T>G)
c.-64-11T>G (n.-64-11T>G)
c.736-11T>G (n.736-11T>G)
 ClinVar
17g.42538660delCA2576295397NAGLUc.679-10del (n.679-10del)
c.281-10del
c.274-10del (n.274-10del)
c.-64-10del (n.-64-10del)
c.736-10del (n.736-10del)
17g.42538663C>TCA2740095367NAGLUc.679-7C>T (n.679-7C>T)
c.281-7C>T
c.274-7C>T (n.274-7C>T)
c.-64-7C>T (n.-64-7C>T)
c.736-7C>T (n.736-7C>T)
 ClinVar
17g.42538664C>TCA2637969899NAGLUc.679-6C>T (n.679-6C>T)
c.281-6C>T
c.274-6C>T (n.274-6C>T)
c.-64-6C>T (n.-64-6C>T)
c.736-6C>T (n.736-6C>T)
 ClinVar dbSNP gnomAD v4
17g.42538664_42538669delinsCTCCAGCA2260527962NAGLUc.679-6_679-1delinsCTCCAG (n.679-6_679-1delinsCTCCAG)
c.281-6_281-1delinsCTCCAG
c.274-6_274-1delinsCTCCAG (n.274-6_274-1delinsCTCCAG)
c.-64-6_-64-1delinsCTCCAG (n.-64-6_-64-1delinsCTCCAG)
c.736-6_736-1delinsCTCCAG (n.736-6_736-1delinsCTCCAG)
17g.42538665T>CCA2499224329NAGLUc.679-5T>C (n.679-5T>C)
c.281-5T>C
c.274-5T>C (n.274-5T>C)
c.-64-5T>C (n.-64-5T>C)
c.736-5T>C (n.736-5T>C)
 ClinVar dbSNP
17g.42538665_42538669delCA626218581NAGLUc.679-5_679-1del (n.679-5_679-1del)
c.281-5_281-1del
c.274-5_274-1del (n.274-5_274-1del)
c.-64-5_-64-1del (n.-64-5_-64-1del)
c.736-5_736-1del (n.736-5_736-1del)
 dbSNP gnomAD v2 gnomAD v4
17g.42538668A>CCA399598821NAGLUc.679-2A>C (n.679-2A>C)
c.281-2A>C
c.274-2A>C (n.274-2A>C)
c.-64-2A>C (n.-64-2A>C)
c.736-2A>C (n.736-2A>C)
17g.42538668A>GCA399598820NAGLUc.679-2A>G (n.679-2A>G)
c.281-2A>G
c.274-2A>G (n.274-2A>G)
c.-64-2A>G (n.-64-2A>G)
c.736-2A>G (n.736-2A>G)
17g.42538668A>TCA399598823NAGLUc.679-2A>T (n.679-2A>T)
c.281-2A>T
c.274-2A>T (n.274-2A>T)
c.-64-2A>T (n.-64-2A>T)
c.736-2A>T (n.736-2A>T)
17g.42538669G>ACA399598825NAGLUc.679-1G>A (n.679-1G>A)
c.281-1G>A
c.274-1G>A (n.274-1G>A)
c.-64-1G>A (n.-64-1G>A)
c.736-1G>A (n.736-1G>A)
17g.42538669G>CCA399598827NAGLUc.679-1G>C (n.679-1G>C)
c.281-1G>C
c.274-1G>C (n.274-1G>C)
c.-64-1G>C (n.-64-1G>C)
c.736-1G>C (n.736-1G>C)
17g.42538669G>TCA399598828NAGLUc.679-1G>T (n.679-1G>T)
c.281-1G>T
c.274-1G>T (n.274-1G>T)
c.-64-1G>T (n.-64-1G>T)
c.736-1G>T (n.736-1G>T)
17g.42538670C>ACA399598830NAGLUc.679C>A (p.His227Asn)
c.281C>A
c.274C>A (p.His92Asn)
c.-64C>A (n.-64C>A)
c.736C>A (p.His246Asn)
17g.42538670C>GCA399598832NAGLUc.679C>G (p.His227Asp)
c.281C>G
c.274C>G (p.His92Asp)
c.-64C>G (n.-64C>G)
c.736C>G (p.His246Asp)
17g.42538670C>TCA399598834NAGLUc.679C>T (p.His227Tyr)
c.281C>T
c.274C>T (p.His92Tyr)
c.-64C>T (n.-64C>T)
c.736C>T (p.His246Tyr)
17g.42538671A=CA2260527963NAGLUc.680A= (p.His227=)
c.282A=
c.275A= (p.His92=)
c.-63A= (n.-63A=)
c.737A= (p.His246=)
17g.42538671A>CCA8576831NAGLUc.680A>C (p.His227Pro)
c.282A>C
c.275A>C (p.His92Pro)
c.-63A>C (n.-63A>C)
c.737A>C (p.His246Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.42538671A>GCA399598837NAGLUc.680A>G (p.His227Arg)
c.282A>G
c.275A>G (p.His92Arg)
c.-63A>G (n.-63A>G)
c.737A>G (p.His246Arg)
17g.42538671A>TCA399598839NAGLUc.680A>T (p.His227Leu)
c.282A>T
c.275A>T (p.His92Leu)
c.-63A>T (n.-63A>T)
c.737A>T (p.His246Leu)
17g.42538672C>ACA399598841NAGLUc.681C>A (p.His227Gln)
c.283C>A
c.276C>A (p.His92Gln)
c.-62C>A (n.-62C>A)
c.738C>A (p.His246Gln)
17g.42538672C=CA2260527964NAGLUc.681C= (p.His227=)
c.283C=
c.276C= (p.His92=)
c.-62C= (n.-62C=)
c.738C= (p.His246=)
17g.42538672C>GCA399598842NAGLUc.681C>G (p.His227Gln)
c.283C>G
c.276C>G (p.His92Gln)
c.-62C>G (n.-62C>G)
c.738C>G (p.His246Gln)
17g.42538672C>TCA500216476NAGLUc.681C>T (p.His227=)
c.283C>T
c.276C>T (p.His92=)
c.-62C>T (n.-62C>T)
c.738C>T (p.His246=)
 dbSNP gnomAD v2 gnomAD v4
17g.42538673C>ACA500216477NAGLUc.682C>A (p.Arg228=)
c.284C>A
c.277C>A (p.Arg93=)
c.-61C>A (n.-61C>A)
c.739C>A (p.Arg247=)
17g.42538673C=CA2260527965NAGLUc.682C= (p.Arg228=)
c.284C=
c.277C= (p.Arg93=)
c.-61C= (n.-61C=)
c.739C= (p.Arg247=)
17g.42538673C>GCA399598845NAGLUc.682C>G (p.Arg228Gly)
c.284C>G
c.277C>G (p.Arg93Gly)
c.-61C>G (n.-61C>G)
c.739C>G (p.Arg247Gly)
17g.42538673C>TCA8576832NAGLUc.682C>T (p.Arg228Trp)
c.284C>T
c.277C>T (p.Arg93Trp)
c.-61C>T (n.-61C>T)
c.739C>T (p.Arg247Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42538674G>ACA8576833NAGLUc.683G>A (p.Arg228Gln)
c.285G>A
c.278G>A (p.Arg93Gln)
c.-60G>A (n.-60G>A)
c.740G>A (p.Arg247Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.42538674G>CCA399598848NAGLUc.683G>C (p.Arg228Pro)
c.285G>C
c.278G>C (p.Arg93Pro)
c.-60G>C (n.-60G>C)
c.740G>C (p.Arg247Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42538674G=CA2260527966NAGLUc.683G= (p.Arg228=)
c.285G=
c.278G= (p.Arg93=)
c.-60G= (n.-60G=)
c.740G= (p.Arg247=)
17g.42538674G>TCA399598850NAGLUc.683G>T (p.Arg228Leu)
c.285G>T
c.278G>T (p.Arg93Leu)
c.-60G>T (n.-60G>T)
c.740G>T (p.Arg247Leu)
 dbSNP COSMIC
17g.42538676delCA2637969900NAGLUc.685del (p.Val229SerfsTer10)
c.287del
c.280del (p.Val94SerfsTer10)
c.-58del (n.-58del)
c.742del (p.Val248SerfsTer10)
 gnomAD v4
17g.42538675G>ACA500216479NAGLUc.684G>A (p.Arg228=)
c.286G>A
c.279G>A (p.Arg93=)
c.-59G>A (n.-59G>A)
c.741G>A (p.Arg247=)
 ClinVar gnomAD v4
17g.42538675G>CCA500216478NAGLUc.684G>C (p.Arg228=)
c.286G>C
c.279G>C (p.Arg93=)
c.-59G>C (n.-59G>C)
c.741G>C (p.Arg247=)
17g.42538675G>TCA500216480NAGLUc.684G>T (p.Arg228=)
c.286G>T
c.279G>T (p.Arg93=)
c.-59G>T (n.-59G>T)
c.741G>T (p.Arg247=)
17g.42538676G>ACA399598854NAGLUc.685G>A (p.Val229Ile)
c.287G>A
c.280G>A (p.Val94Ile)
c.-58G>A (n.-58G>A)
c.742G>A (p.Val248Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42538676G>CCA399598855NAGLUc.685G>C (p.Val229Leu)
c.287G>C
c.280G>C (p.Val94Leu)
c.-58G>C (n.-58G>C)
c.742G>C (p.Val248Leu)
17g.42538676G=CA2260527967NAGLUc.685G= (p.Val229=)
c.287G=
c.280G= (p.Val94=)
c.-58G= (n.-58G=)
c.742G= (p.Val248=)
17g.42538676G>TCA399598857NAGLUc.685G>T (p.Val229Phe)
c.287G>T
c.280G>T (p.Val94Phe)
c.-58G>T (n.-58G>T)
c.742G>T (p.Val248Phe)
17g.42538677T>ACA399598859NAGLUc.686T>A (p.Val229Asp)
c.288T>A
c.281T>A (p.Val94Asp)
c.-57T>A (n.-57T>A)
c.743T>A (p.Val248Asp)
17g.42538677T>CCA399598861NAGLUc.686T>C (p.Val229Ala)
c.288T>C
c.281T>C (p.Val94Ala)
c.-57T>C (n.-57T>C)
c.743T>C (p.Val248Ala)
 dbSNP
17g.42538677T>GCA399598863NAGLUc.686T>G (p.Val229Gly)
c.288T>G
c.281T>G (p.Val94Gly)
c.-57T>G (n.-57T>G)
c.743T>G (p.Val248Gly)
17g.42538677T=CA2260527968NAGLUc.686T= (p.Val229=)
c.288T=
c.281T= (p.Val94=)
c.-57T= (n.-57T=)
c.743T= (p.Val248=)
17g.42538678C>ACA500216481NAGLUc.687C>A (p.Val229=)
c.289C>A
c.282C>A (p.Val94=)
c.-56C>A (n.-56C>A)
c.744C>A (p.Val248=)
17g.42538678C>GCA500216483NAGLUc.687C>G (p.Val229=)
c.289C>G
c.282C>G (p.Val94=)
c.-56C>G (n.-56C>G)
c.744C>G (p.Val248=)
17g.42538678C>TCA500216482NAGLUc.687C>T (p.Val229=)
c.289C>T
c.282C>T (p.Val94=)
c.-56C>T (n.-56C>T)
c.744C>T (p.Val248=)
17g.42538680_42538685delCA2573153967NAGLUc.689_694del (p.Leu230_Asp231del)
c.291_296del
c.284_289del (p.Leu95_Asp96del)
c.-54_-49del (n.-54_-49del)
c.746_751del (p.Leu249_Asp250del)
 ClinVar dbSNP
17g.42538679C>ACA399598866NAGLUc.688C>A (p.Leu230Met)
c.290C>A
c.283C>A (p.Leu95Met)
c.-55C>A (n.-55C>A)
c.745C>A (p.Leu249Met)
17g.42538679C>GCA399598867NAGLUc.688C>G (p.Leu230Val)
c.290C>G
c.283C>G (p.Leu95Val)
c.-55C>G (n.-55C>G)
c.745C>G (p.Leu249Val)
17g.42538679C>TCA500216484NAGLUc.688C>T (p.Leu230=)
c.290C>T
c.283C>T (p.Leu95=)
c.-55C>T (n.-55C>T)
c.745C>T (p.Leu249=)
17g.42538680T>ACA399598869NAGLUc.689T>A (p.Leu230Gln)
c.291T>A
c.284T>A (p.Leu95Gln)
c.-54T>A (n.-54T>A)
c.746T>A (p.Leu249Gln)
17g.42538680T>CCA399598870NAGLUc.689T>C (p.Leu230Pro)
c.291T>C
c.284T>C (p.Leu95Pro)
c.-54T>C (n.-54T>C)
c.746T>C (p.Leu249Pro)
17g.42538680T>GCA399598872NAGLUc.689T>G (p.Leu230Arg)
c.291T>G
c.284T>G (p.Leu95Arg)
c.-54T>G (n.-54T>G)
c.746T>G (p.Leu249Arg)
17g.42538681G>ACA500216485NAGLUc.690G>A (p.Leu230=)
c.292G>A
c.285G>A (p.Leu95=)
c.-53G>A (n.-53G>A)
c.747G>A (p.Leu249=)
 gnomAD v4
17g.42538681G>CCA500216486NAGLUc.690G>C (p.Leu230=)
c.292G>C
c.285G>C (p.Leu95=)
c.-53G>C (n.-53G>C)
c.747G>C (p.Leu249=)
17g.42538681G>TCA500216487NAGLUc.690G>T (p.Leu230=)
c.292G>T
c.285G>T (p.Leu95=)
c.-53G>T (n.-53G>T)
c.747G>T (p.Leu249=)
17g.42538682G>ACA399598877NAGLUc.691G>A (p.Asp231Asn)
c.293G>A
c.286G>A (p.Asp96Asn)
c.-52G>A (n.-52G>A)
c.748G>A (p.Asp250Asn)
 COSMIC
17g.42538682G>CCA399598875NAGLUc.691G>C (p.Asp231His)
c.293G>C
c.286G>C (p.Asp96His)
c.-52G>C (n.-52G>C)
c.748G>C (p.Asp250His)
17g.42538682G>TCA399598874NAGLUc.691G>T (p.Asp231Tyr)
c.293G>T
c.286G>T (p.Asp96Tyr)
c.-52G>T (n.-52G>T)
c.748G>T (p.Asp250Tyr)
17g.42538683A>CCA399598879NAGLUc.692A>C (p.Asp231Ala)
c.294A>C
c.287A>C (p.Asp96Ala)
c.-51A>C (n.-51A>C)
c.749A>C (p.Asp250Ala)
17g.42538683A>GCA399598881NAGLUc.692A>G (p.Asp231Gly)
c.294A>G
c.287A>G (p.Asp96Gly)
c.-51A>G (n.-51A>G)
c.749A>G (p.Asp250Gly)
 gnomAD v4
17g.42538683A>TCA399598882NAGLUc.692A>T (p.Asp231Val)
c.294A>T
c.287A>T (p.Asp96Val)
c.-51A>T (n.-51A>T)
c.749A>T (p.Asp250Val)
17g.42538684C>ACA399598884NAGLUc.693C>A (p.Asp231Glu)
c.295C>A
c.288C>A (p.Asp96Glu)
c.-50C>A (n.-50C>A)
c.750C>A (p.Asp250Glu)
17g.42538684C>GCA399598886NAGLUc.693C>G (p.Asp231Glu)
c.295C>G
c.288C>G (p.Asp96Glu)
c.-50C>G (n.-50C>G)
c.750C>G (p.Asp250Glu)
17g.42538684C>TCA500216488NAGLUc.693C>T (p.Asp231=)
c.295C>T
c.288C>T (p.Asp96=)
c.-50C>T (n.-50C>T)
c.750C>T (p.Asp250=)
17g.42538685C>ACA399598888NAGLUc.694C>A (p.Gln232Lys)
c.296C>A
c.289C>A (p.Gln97Lys)
c.-49C>A (n.-49C>A)
c.751C>A (p.Gln251Lys)
17g.42538685C=CA2260527969NAGLUc.694C= (p.Gln232=)
c.296C=
c.289C= (p.Gln97=)
c.-49C= (n.-49C=)
c.751C= (p.Gln251=)
17g.42538685C>GCA399598890NAGLUc.694C>G (p.Gln232Glu)
c.296C>G
c.289C>G (p.Gln97Glu)
c.-49C>G (n.-49C>G)
c.751C>G (p.Gln251Glu)
17g.42538685C>TCA10605951NAGLUc.694C>T (p.Gln232Ter)
c.296C>T
c.289C>T (p.Gln97Ter)
c.-49C>T (n.-49C>T)
c.751C>T (p.Gln251Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42538686A>CCA399598892NAGLUc.695A>C (p.Gln232Pro)
c.297A>C
c.290A>C (p.Gln97Pro)
c.-48A>C (n.-48A>C)
c.752A>C (p.Gln251Pro)
17g.42538686A>GCA399598893NAGLUc.695A>G (p.Gln232Arg)
c.297A>G
c.290A>G (p.Gln97Arg)
c.-48A>G (n.-48A>G)
c.752A>G (p.Gln251Arg)
17g.42538686A>TCA399598894NAGLUc.695A>T (p.Gln232Leu)
c.297A>T
c.290A>T (p.Gln97Leu)
c.-48A>T (n.-48A>T)
c.752A>T (p.Gln251Leu)
17g.42538687G>ACA500216489NAGLUc.696G>A (p.Gln232=)
c.298G>A
c.291G>A (p.Gln97=)
c.-47G>A (n.-47G>A)
c.753G>A (p.Gln251=)
 gnomAD v4
17g.42538687G>CCA399598896NAGLUc.696G>C (p.Gln232His)
c.298G>C
c.291G>C (p.Gln97His)
c.-47G>C (n.-47G>C)
c.753G>C (p.Gln251His)
17g.42538687G>TCA399598899NAGLUc.696G>T (p.Gln232His)
c.298G>T
c.291G>T (p.Gln97His)
c.-47G>T (n.-47G>T)
c.753G>T (p.Gln251His)
17g.42538688A>CCA399598905NAGLUc.697A>C (p.Met233Leu)
c.299A>C
c.292A>C (p.Met98Leu)
c.-46A>C (n.-46A>C)
c.754A>C (p.Met252Leu)
17g.42538688A>GCA399598902NAGLUc.697A>G (p.Met233Val)
c.299A>G
c.292A>G (p.Met98Val)
c.-46A>G (n.-46A>G)
c.754A>G (p.Met252Val)
17g.42538688A>TCA399598903NAGLUc.697A>T (p.Met233Leu)
c.299A>T
c.292A>T (p.Met98Leu)
c.-46A>T (n.-46A>T)
c.754A>T (p.Met252Leu)
17g.42538689T>ACA399598907NAGLUc.698T>A (p.Met233Lys)
c.300T>A
c.293T>A (p.Met98Lys)
c.-45T>A (n.-45T>A)
c.755T>A (p.Met252Lys)
17g.42538689T>CCA399598908NAGLUc.698T>C (p.Met233Thr)
c.300T>C
c.293T>C (p.Met98Thr)
c.-45T>C (n.-45T>C)
c.755T>C (p.Met252Thr)
17g.42538689T>GCA399598910NAGLUc.698T>G (p.Met233Arg)
c.300T>G
c.293T>G (p.Met98Arg)
c.-45T>G (n.-45T>G)
c.755T>G (p.Met252Arg)
17g.42538690G>ACA399598912NAGLUc.699G>A (p.Met233Ile)
c.301G>A
c.294G>A (p.Met98Ile)
c.-44G>A (n.-44G>A)
c.756G>A (p.Met252Ile)
17g.42538690G>CCA399598914NAGLUc.699G>C (p.Met233Ile)
c.301G>C
c.294G>C (p.Met98Ile)
c.-44G>C (n.-44G>C)
c.756G>C (p.Met252Ile)
17g.42538690G>TCA399598916NAGLUc.699G>T (p.Met233Ile)
c.301G>T
c.294G>T (p.Met98Ile)
c.-44G>T (n.-44G>T)
c.756G>T (p.Met252Ile)
17g.42538691C>ACA399598918NAGLUc.700C>A (p.Arg234Ser)
c.302C>A
c.295C>A (p.Arg99Ser)
c.-43C>A (n.-43C>A)
c.757C>A (p.Arg253Ser)
 dbSNP
17g.42538691C=CA2260527970NAGLUc.700C= (p.Arg234=)
c.302C=
c.295C= (p.Arg99=)
c.-43C= (n.-43C=)
c.757C= (p.Arg253=)
17g.42538691C>GCA399598919NAGLUc.700C>G (p.Arg234Gly)
c.302C>G
c.295C>G (p.Arg99Gly)
c.-43C>G (n.-43C>G)
c.757C>G (p.Arg253Gly)
 ClinVar dbSNP
17g.42538691C>TCA115055NAGLUc.700C>T (p.Arg234Cys)
c.302C>T
c.295C>T (p.Arg99Cys)
c.-43C>T (n.-43C>T)
c.757C>T (p.Arg253Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42538692G>ACA399598921NAGLUc.701G>A (p.Arg234His)
c.303G>A
c.296G>A (p.Arg99His)
c.-42G>A (n.-42G>A)
c.758G>A (p.Arg253His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42538692G>CCA10603774NAGLUc.701G>C (p.Arg234Pro)
c.303G>C
c.296G>C (p.Arg99Pro)
c.-42G>C (n.-42G>C)
c.758G>C (p.Arg253Pro)
 ClinVar dbSNP gnomAD v4
17g.42538692G=CA2260527971NAGLUc.701G= (p.Arg234=)
c.303G=
c.296G= (p.Arg99=)
c.-42G= (n.-42G=)
c.758G= (p.Arg253=)
17g.42538692G>TCA399598923NAGLUc.701G>T (p.Arg234Leu)
c.303G>T
c.296G>T (p.Arg99Leu)
c.-42G>T (n.-42G>T)
c.758G>T (p.Arg253Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42538693C>ACA500216490NAGLUc.702C>A (p.Arg234=)
c.304C>A
c.297C>A (p.Arg99=)
c.-41C>A (n.-41C>A)
c.759C>A (p.Arg253=)
 gnomAD v4
17g.42538693C=CA2260527972NAGLUc.702C= (p.Arg234=)
c.304C=
c.297C= (p.Arg99=)
c.-41C= (n.-41C=)
c.759C= (p.Arg253=)
17g.42538693C>GCA500216491NAGLUc.702C>G (p.Arg234=)
c.304C>G
c.297C>G (p.Arg99=)
c.-41C>G (n.-41C>G)
c.759C>G (p.Arg253=)
17g.42538693C>TCA500216492NAGLUc.702C>T (p.Arg234=)
c.304C>T
c.297C>T (p.Arg99=)
c.-41C>T (n.-41C>T)
c.759C>T (p.Arg253=)
 ClinVar dbSNP
17g.42538694delCA2695226063NAGLUc.703del (p.Ser235ProfsTer4)
c.305del
c.298del (p.Ser100ProfsTer4)
c.-40del (n.-40del)
c.760del (p.Ser254ProfsTer4)
17g.42538694T>ACA399598929NAGLUc.703T>A (p.Ser235Thr)
c.305T>A
c.298T>A (p.Ser100Thr)
c.-40T>A (n.-40T>A)
c.760T>A (p.Ser254Thr)
17g.42538694T>CCA399598927NAGLUc.703T>C (p.Ser235Pro)
c.305T>C
c.298T>C (p.Ser100Pro)
c.-40T>C (n.-40T>C)
c.760T>C (p.Ser254Pro)
 ClinVar dbSNP
17g.42538694T>GCA399598925NAGLUc.703T>G (p.Ser235Ala)
c.305T>G
c.298T>G (p.Ser100Ala)
c.-40T>G (n.-40T>G)
c.760T>G (p.Ser254Ala)
17g.42538695C>ACA399598930NAGLUc.704C>A (p.Ser235Tyr)
c.306C>A
c.299C>A (p.Ser100Tyr)
c.-39C>A (n.-39C>A)
c.761C>A (p.Ser254Tyr)
17g.42538695C>GCA399598931NAGLUc.704C>G (p.Ser235Cys)
c.306C>G
c.299C>G (p.Ser100Cys)
c.-39C>G (n.-39C>G)
c.761C>G (p.Ser254Cys)
17g.42538695C>TCA399598932NAGLUc.704C>T (p.Ser235Phe)
c.306C>T
c.299C>T (p.Ser100Phe)
c.-39C>T (n.-39C>T)
c.761C>T (p.Ser254Phe)
 gnomAD v4
17g.42538696C>ACA500216495NAGLUc.705C>A (p.Ser235=)
c.307C>A
c.300C>A (p.Ser100=)
c.-38C>A (n.-38C>A)
c.762C>A (p.Ser254=)
17g.42538696C>GCA500216494NAGLUc.705C>G (p.Ser235=)
c.307C>G
c.300C>G (p.Ser100=)
c.-38C>G (n.-38C>G)
c.762C>G (p.Ser254=)
17g.42538696C>TCA500216493NAGLUc.705C>T (p.Ser235=)
c.307C>T
c.300C>T (p.Ser100=)
c.-38C>T (n.-38C>T)
c.762C>T (p.Ser254=)
17g.42538697T>ACA399598934NAGLUc.706T>A (p.Phe236Ile)
c.308T>A
c.301T>A (p.Phe101Ile)
c.-37T>A (n.-37T>A)
c.763T>A (p.Phe255Ile)
17g.42538697T>CCA399598936NAGLUc.706T>C (p.Phe236Leu)
c.308T>C
c.301T>C (p.Phe101Leu)
c.-37T>C (n.-37T>C)
c.763T>C (p.Phe255Leu)
17g.42538697T>GCA399598938NAGLUc.706T>G (p.Phe236Val)
c.308T>G
c.301T>G (p.Phe101Val)
c.-37T>G (n.-37T>G)
c.763T>G (p.Phe255Val)
 dbSNP gnomAD v3 gnomAD v4
17g.42538698T>ACA399598943NAGLUc.707T>A (p.Phe236Tyr)
c.309T>A
c.302T>A (p.Phe101Tyr)
c.-36T>A (n.-36T>A)
c.764T>A (p.Phe255Tyr)
17g.42538698T>CCA399598941NAGLUc.707T>C (p.Phe236Ser)
c.309T>C
c.302T>C (p.Phe101Ser)
c.-36T>C (n.-36T>C)
c.764T>C (p.Phe255Ser)
 ClinVar
17g.42538698T>GCA399598940NAGLUc.707T>G (p.Phe236Cys)
c.309T>G
c.302T>G (p.Phe101Cys)
c.-36T>G (n.-36T>G)
c.764T>G (p.Phe255Cys)
17g.42538699C>ACA399598946NAGLUc.708C>A (p.Phe236Leu)
c.310C>A
c.303C>A (p.Phe101Leu)
c.-35C>A (n.-35C>A)
c.765C>A (p.Phe255Leu)
17g.42538699C=CA2260527973NAGLUc.708C= (p.Phe236=)
c.310C=
c.303C= (p.Phe101=)
c.-35C= (n.-35C=)
c.765C= (p.Phe255=)
17g.42538699C>GCA399598947NAGLUc.708C>G (p.Phe236Leu)
c.310C>G
c.303C>G (p.Phe101Leu)
c.-35C>G (n.-35C>G)
c.765C>G (p.Phe255Leu)
17g.42538699C>TCA8576834NAGLUc.708C>T (p.Phe236=)
c.310C>T
c.303C>T (p.Phe101=)
c.-35C>T (n.-35C>T)
c.765C>T (p.Phe255=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42538700G>ACA399598948NAGLUc.709G>A (p.Gly237Ser)
c.311G>A
c.304G>A (p.Gly102Ser)
c.-34G>A (n.-34G>A)
c.766G>A (p.Gly256Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42538700G>CCA399598949NAGLUc.709G>C (p.Gly237Arg)
c.311G>C
c.304G>C (p.Gly102Arg)
c.-34G>C (n.-34G>C)
c.766G>C (p.Gly256Arg)
 gnomAD v4
17g.42538700G=CA2260527974NAGLUc.709G= (p.Gly237=)
c.311G=
c.304G= (p.Gly102=)
c.-34G= (n.-34G=)
c.766G= (p.Gly256=)
17g.42538700G>TCA399598950NAGLUc.709G>T (p.Gly237Cys)
c.311G>T
c.304G>T (p.Gly102Cys)
c.-34G>T (n.-34G>T)
c.766G>T (p.Gly256Cys)
17g.42538701_42538705dupCA2580093985NAGLUc.710_714dup (p.Thr239AlafsTer2)
c.312_316dup
c.305_309dup (p.Thr104AlafsTer2)
c.-33_-29dup (n.-33_-29dup)
c.767_771dup (p.Thr258AlafsTer2)
 ClinVar gnomAD v4
17g.42538701G>ACA8576835NAGLUc.710G>A (p.Gly237Asp)
c.312G>A
c.305G>A (p.Gly102Asp)
c.-33G>A (n.-33G>A)
c.767G>A (p.Gly256Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42538701G>CCA399598953NAGLUc.710G>C (p.Gly237Ala)
c.312G>C
c.305G>C (p.Gly102Ala)
c.-33G>C (n.-33G>C)
c.767G>C (p.Gly256Ala)
17g.42538701G=CA2260527975NAGLUc.710G= (p.Gly237=)
c.312G=
c.305G= (p.Gly102=)
c.-33G= (n.-33G=)
c.767G= (p.Gly256=)
17g.42538701G>TCA399598952NAGLUc.710G>T (p.Gly237Val)
c.312G>T
c.305G>T (p.Gly102Val)
c.-33G>T (n.-33G>T)
c.767G>T (p.Gly256Val)
17g.42538702C>ACA500216496NAGLUc.711C>A (p.Gly237=)
c.313C>A
c.306C>A (p.Gly102=)
c.-32C>A (n.-32C>A)
c.768C>A (p.Gly256=)
 gnomAD v4
17g.42538702C>GCA500216497NAGLUc.711C>G (p.Gly237=)
c.313C>G
c.306C>G (p.Gly102=)
c.-32C>G (n.-32C>G)
c.768C>G (p.Gly256=)
17g.42538702C>TCA500216498NAGLUc.711C>T (p.Gly237=)
c.313C>T
c.306C>T (p.Gly102=)
c.-32C>T (n.-32C>T)
c.768C>T (p.Gly256=)
17g.42538703A=CA2260527976NAGLUc.712A= (p.Met238=)
c.314A=
c.307A= (p.Met103=)
c.-31A= (n.-31A=)
c.769A= (p.Met257=)
17g.42538703A>CCA399598955NAGLUc.712A>C (p.Met238Leu)
c.314A>C
c.307A>C (p.Met103Leu)
c.-31A>C (n.-31A>C)
c.769A>C (p.Met257Leu)
17g.42538703A>GCA399598957NAGLUc.712A>G (p.Met238Val)
c.314A>G
c.307A>G (p.Met103Val)
c.-31A>G (n.-31A>G)
c.769A>G (p.Met257Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42538703A>TCA399598958NAGLUc.712A>T (p.Met238Leu)
c.314A>T
c.307A>T (p.Met103Leu)
c.-31A>T (n.-31A>T)
c.769A>T (p.Met257Leu)
 dbSNP gnomAD v4
17g.42538704delCA2573153968NAGLUc.713del (p.Met238ArgfsTer?)
c.315del
c.308del (p.Met103ArgfsTer?)
c.-30del (n.-30del)
c.770del (p.Met257ArgfsTer?)
 ClinVar dbSNP
17g.42538704T>ACA399598959NAGLUc.713T>A (p.Met238Lys)
c.315T>A
c.308T>A (p.Met103Lys)
c.-30T>A (n.-30T>A)
c.770T>A (p.Met257Lys)
17g.42538704T>CCA399598960NAGLUc.713T>C (p.Met238Thr)
c.315T>C
c.308T>C (p.Met103Thr)
c.-30T>C (n.-30T>C)
c.770T>C (p.Met257Thr)
 gnomAD v4
17g.42538704T>GCA399598962NAGLUc.713T>G (p.Met238Arg)
c.315T>G
c.308T>G (p.Met103Arg)
c.-30T>G (n.-30T>G)
c.770T>G (p.Met257Arg)
17g.42538705G>ACA399598964NAGLUc.714G>A (p.Met238Ile)
c.316G>A
c.309G>A (p.Met103Ile)
c.-29G>A (n.-29G>A)
c.771G>A (p.Met257Ile)
17g.42538705G>CCA399598967NAGLUc.714G>C (p.Met238Ile)
c.316G>C
c.309G>C (p.Met103Ile)
c.-29G>C (n.-29G>C)
c.771G>C (p.Met257Ile)
 dbSNP gnomAD v4
17g.42538705G=CA2260527977NAGLUc.714G= (p.Met238=)
c.316G=
c.309G= (p.Met103=)
c.-29G= (n.-29G=)
c.771G= (p.Met257=)
17g.42538705G>TCA399598969NAGLUc.714G>T (p.Met238Ile)
c.316G>T
c.309G>T (p.Met103Ile)
c.-29G>T (n.-29G>T)
c.771G>T (p.Met257Ile)
17g.42538706A=CA2260527978NAGLUc.715A= (p.Thr239=)
c.317A=
c.310A= (p.Thr104=)
c.-28A= (n.-28A=)
c.772A= (p.Thr258=)
17g.42538706A>CCA399598971NAGLUc.715A>C (p.Thr239Pro)
c.317A>C
c.310A>C (p.Thr104Pro)
c.-28A>C (n.-28A>C)
c.772A>C (p.Thr258Pro)
 dbSNP
17g.42538706A>GCA399598973NAGLUc.715A>G (p.Thr239Ala)
c.317A>G
c.310A>G (p.Thr104Ala)
c.-28A>G (n.-28A>G)
c.772A>G (p.Thr258Ala)
17g.42538706A>TCA399598975NAGLUc.715A>T (p.Thr239Ser)
c.317A>T
c.310A>T (p.Thr104Ser)
c.-28A>T (n.-28A>T)
c.772A>T (p.Thr258Ser)
17g.42538707C>ACA399598977NAGLUc.716C>A (p.Thr239Asn)
c.318C>A
c.311C>A (p.Thr104Asn)
c.-27C>A (n.-27C>A)
c.773C>A (p.Thr258Asn)
 gnomAD v4
17g.42538707C>GCA399598980NAGLUc.716C>G (p.Thr239Ser)
c.318C>G
c.311C>G (p.Thr104Ser)
c.-27C>G (n.-27C>G)
c.773C>G (p.Thr258Ser)
17g.42538707C>TCA399598978NAGLUc.716C>T (p.Thr239Ile)
c.318C>T
c.311C>T (p.Thr104Ile)
c.-27C>T (n.-27C>T)
c.773C>T (p.Thr258Ile)
17g.42538708C>ACA500216500NAGLUc.717C>A (p.Thr239=)
c.319C>A
c.312C>A (p.Thr104=)
c.-26C>A (n.-26C>A)
c.774C>A (p.Thr258=)
17g.42538708C>GCA500216501NAGLUc.717C>G (p.Thr239=)
c.319C>G
c.312C>G (p.Thr104=)
c.-26C>G (n.-26C>G)
c.774C>G (p.Thr258=)
17g.42538708C>TCA500216499NAGLUc.717C>T (p.Thr239=)
c.319C>T
c.312C>T (p.Thr104=)
c.-26C>T (n.-26C>T)
c.774C>T (p.Thr258=)
 ClinVar
17g.42538709C>ACA399598982NAGLUc.718C>A (p.Pro240Thr)
c.320C>A
c.313C>A (p.Pro105Thr)
c.-25C>A (n.-25C>A)
c.775C>A (p.Pro259Thr)
17g.42538709C>GCA399598984NAGLUc.718C>G (p.Pro240Ala)
c.320C>G
c.313C>G (p.Pro105Ala)
c.-25C>G (n.-25C>G)
c.775C>G (p.Pro259Ala)
 gnomAD v4
17g.42538709C>TCA399598985NAGLUc.718C>T (p.Pro240Ser)
c.320C>T
c.313C>T (p.Pro105Ser)
c.-25C>T (n.-25C>T)
c.775C>T (p.Pro259Ser)
 ClinVar COSMIC
17g.42538710C>ACA399598988NAGLUc.719C>A (p.Pro240Gln)
c.321C>A
c.314C>A (p.Pro105Gln)
c.-24C>A (n.-24C>A)
c.776C>A (p.Pro259Gln)
17g.42538710C=CA2260527979NAGLUc.719C= (p.Pro240=)
c.321C=
c.314C= (p.Pro105=)
c.-24C= (n.-24C=)
c.776C= (p.Pro259=)
17g.42538710C>GCA399598990NAGLUc.719C>G (p.Pro240Arg)
c.321C>G
c.314C>G (p.Pro105Arg)
c.-24C>G (n.-24C>G)
c.776C>G (p.Pro259Arg)
17g.42538710C>TCA399598992NAGLUc.719C>T (p.Pro240Leu)
c.321C>T
c.314C>T (p.Pro105Leu)
c.-24C>T (n.-24C>T)
c.776C>T (p.Pro259Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42538711A=CA2260527980NAGLUc.720A= (p.Pro240=)
c.322A=
c.315A= (p.Pro105=)
c.-23A= (n.-23A=)
c.777A= (p.Pro259=)
17g.42538711A>CCA500216503NAGLUc.720A>C (p.Pro240=)
c.322A>C
c.315A>C (p.Pro105=)
c.-23A>C (n.-23A>C)
c.777A>C (p.Pro259=)
 ClinVar dbSNP
17g.42538711A>GCA500216502NAGLUc.720A>G (p.Pro240=)
c.322A>G
c.315A>G (p.Pro105=)
c.-23A>G (n.-23A>G)
c.777A>G (p.Pro259=)
17g.42538711A>TCA290773440NAGLUc.720A>T (p.Pro240=)
c.322A>T
c.315A>T (p.Pro105=)
c.-23A>T (n.-23A>T)
c.777A>T (p.Pro259=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.42538712G>ACA399598994NAGLUc.721G>A (p.Val241Met)
c.323G>A
c.316G>A (p.Val106Met)
c.-22G>A (n.-22G>A)
c.778G>A (p.Val260Met)
17g.42538712G>CCA399598996NAGLUc.721G>C (p.Val241Leu)
c.323G>C
c.316G>C (p.Val106Leu)
c.-22G>C (n.-22G>C)
c.778G>C (p.Val260Leu)
17g.42538712G=CA2260527981NAGLUc.721G= (p.Val241=)
c.323G=
c.316G= (p.Val106=)
c.-22G= (n.-22G=)
c.778G= (p.Val260=)
17g.42538712G>TCA399598998NAGLUc.721G>T (p.Val241Leu)
c.323G>T
c.316G>T (p.Val106Leu)
c.-22G>T (n.-22G>T)
c.778G>T (p.Val260Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42538713T>ACA399599000NAGLUc.722T>A (p.Val241Glu)
c.324T>A
c.317T>A (p.Val106Glu)
c.-21T>A (n.-21T>A)
c.779T>A (p.Val260Glu)
17g.42538713T>CCA399599002NAGLUc.722T>C (p.Val241Ala)
c.324T>C
c.317T>C (p.Val106Ala)
c.-21T>C (n.-21T>C)
c.779T>C (p.Val260Ala)
 dbSNP gnomAD v3 gnomAD v4
17g.42538713T>GCA399599004NAGLUc.722T>G (p.Val241Gly)
c.324T>G
c.317T>G (p.Val106Gly)
c.-21T>G (n.-21T>G)
c.779T>G (p.Val260Gly)
17g.42538713T=CA2260527982NAGLUc.722T= (p.Val241=)
c.324T=
c.317T= (p.Val106=)
c.-21T= (n.-21T=)
c.779T= (p.Val260=)
17g.42538714G>ACA8576836NAGLUc.723G>A (p.Val241=)
c.325G>A
c.318G>A (p.Val106=)
c.-20G>A (n.-20G>A)
c.780G>A (p.Val260=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.42538714G>CCA500216505NAGLUc.723G>C (p.Val241=)
c.325G>C
c.318G>C (p.Val106=)
c.-20G>C (n.-20G>C)
c.780G>C (p.Val260=)
17g.42538714G=CA2260527983NAGLUc.723G= (p.Val241=)
c.325G=
c.318G= (p.Val106=)
c.-20G= (n.-20G=)
c.780G= (p.Val260=)
17g.42538714G>TCA500216504NAGLUc.723G>T (p.Val241=)
c.325G>T
c.318G>T (p.Val106=)
c.-20G>T (n.-20G>T)
c.780G>T (p.Val260=)

Number of alleles fetched