Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2046229_2046258delCA2631108820NTHL1c.226_255del (p.Val76_Gln85del)
c.181_210del (p.Val61_Gln70del)
c.250_279del (p.Val84_Gln93del)
c.146_175del
c.189_218del
c.173+24_173+53del
c.24+24_24+53del (n.24+24_24+53del)
gnomAD v4
16g.2046233_2046242delinsGTCCTGGGGCCA2201986738NTHL1c.240_249delinsGCCCCAGGAC (p.Glu80=)
c.195_204delinsGCCCCAGGAC (p.Glu65=)
c.264_273delinsGCCCCAGGAC (p.Glu88=)
c.160_169delinsGCCCCAGGAC
c.203_212delinsGCCCCAGGAC
c.173+38_173+47delinsGCCCCAGGAC
c.24+38_24+47delinsGCCCCAGGAC (n.24+38_24+47delinsGCCCCAGGAC)
16g.2046237_2046245delCA620704675NTHL1c.240_248del (p.Glu80_Gln82del)
c.195_203del (p.Glu65_Gln67del)
c.264_272del (p.Glu88_Gln90del)
c.160_168del
c.203_211del
c.173+38_173+46del
c.24+38_24+46del (n.24+38_24+46del)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2046238G>ACA200196NTHL1c.244C>T (p.Gln82Ter)
c.199C>T (p.Gln67Ter)
c.268C>T (p.Gln90Ter)
c.164C>T
c.207C>T
c.173+42C>T
c.24+42C>T (n.24+42C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2046238G>CCA394297181NTHL1c.244C>G (p.Gln82Glu)
c.199C>G (p.Gln67Glu)
c.268C>G (p.Gln90Glu)
c.164C>G
c.207C>G
c.173+42C>G
c.24+42C>G (n.24+42C>G)
16g.2046238G=CA2201986757NTHL1c.244C= (p.Gln82=)
c.199C= (p.Gln67=)
c.268C= (p.Gln90=)
c.164C=
c.207C=
c.173+42C=
c.24+42C= (n.24+42C=)
16g.2046238G>TCA394297184NTHL1c.244C>A (p.Gln82Lys)
c.199C>A (p.Gln67Lys)
c.268C>A (p.Gln90Lys)
c.164C>A
c.207C>A
c.173+42C>A
c.24+42C>A (n.24+42C>A)
16g.2046239G>ACA492953316NTHL1c.243C>T (p.Pro81=)
c.198C>T (p.Pro66=)
c.267C>T (p.Pro89=)
c.163C>T
c.206C>T
c.173+41C>T
c.24+41C>T (n.24+41C>T)
gnomAD v4
16g.2046239G>CCA492953315NTHL1c.243C>G (p.Pro81=)
c.198C>G (p.Pro66=)
c.267C>G (p.Pro89=)
c.163C>G
c.206C>G
c.173+41C>G
c.24+41C>G (n.24+41C>G)
16g.2046239G>TCA492953314NTHL1c.243C>A (p.Pro81=)
c.198C>A (p.Pro66=)
c.267C>A (p.Pro89=)
c.163C>A
c.206C>A
c.173+41C>A
c.24+41C>A (n.24+41C>A)
16g.2046240G>ACA394297203NTHL1c.242C>T (p.Pro81Leu)
c.197C>T (p.Pro66Leu)
c.266C>T (p.Pro89Leu)
c.162C>T
c.205C>T
c.173+40C>T
c.24+40C>T (n.24+40C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2046240G>CCA394297187NTHL1c.242C>G (p.Pro81Arg)
c.197C>G (p.Pro66Arg)
c.266C>G (p.Pro89Arg)
c.162C>G
c.205C>G
c.173+40C>G
c.24+40C>G (n.24+40C>G)
16g.2046240G=CA2201986760NTHL1c.242C= (p.Pro81=)
c.197C= (p.Pro66=)
c.266C= (p.Pro89=)
c.162C=
c.205C=
c.173+40C=
c.24+40C= (n.24+40C=)
16g.2046240G>TCA7828338NTHL1c.242C>A (p.Pro81His)
c.197C>A (p.Pro66His)
c.266C>A (p.Pro89His)
c.162C>A
c.205C>A
c.173+40C>A
c.24+40C>A (n.24+40C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2046240_2046241insACA2573151821NTHL1c.241_242insT (p.Pro81LeufsTer28)
c.196_197insT (p.Pro66LeufsTer28)
c.265_266insT (p.Pro89LeufsTer28)
c.161_162insT
c.204_205insT
c.173+39_173+40insT
c.24+39_24+40insT (n.24+39_24+40insT)
ClinVar dbSNP
16g.2046241G>ACA394297211NTHL1c.241C>T (p.Pro81Ser)
c.196C>T (p.Pro66Ser)
c.265C>T (p.Pro89Ser)
c.161C>T
c.204C>T
c.173+39C>T
c.24+39C>T (n.24+39C>T)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.2046241G>CCA394297214NTHL1c.241C>G (p.Pro81Ala)
c.196C>G (p.Pro66Ala)
c.265C>G (p.Pro89Ala)
c.161C>G
c.204C>G
c.173+39C>G
c.24+39C>G (n.24+39C>G)
ClinVar dbSNP gnomAD v4
16g.2046241G=CA2201986762NTHL1c.241C= (p.Pro81=)
c.196C= (p.Pro66=)
c.265C= (p.Pro89=)
c.161C=
c.204C=
c.173+39C=
c.24+39C= (n.24+39C=)
16g.2046241G>TCA394297229NTHL1c.241C>A (p.Pro81Thr)
c.196C>A (p.Pro66Thr)
c.265C>A (p.Pro89Thr)
c.161C>A
c.204C>A
c.173+39C>A
c.24+39C>A (n.24+39C>A)
gnomAD v4
16g.2046242C>ACA394297232NTHL1c.240G>T (p.Glu80Asp)
c.195G>T (p.Glu65Asp)
c.264G>T (p.Glu88Asp)
c.160G>T
c.203G>T
c.173+38G>T
c.24+38G>T (n.24+38G>T)
16g.2046242C>GCA394297235NTHL1c.240G>C (p.Glu80Asp)
c.195G>C (p.Glu65Asp)
c.264G>C (p.Glu88Asp)
c.160G>C
c.203G>C
c.173+38G>C
c.24+38G>C (n.24+38G>C)
16g.2046242C>TCA492953320NTHL1c.240G>A (p.Glu80=)
c.195G>A (p.Glu65=)
c.264G>A (p.Glu88=)
c.160G>A
c.203G>A
c.173+38G>A
c.24+38G>A (n.24+38G>A)
ClinVar gnomAD v4
16g.2046243delCA2573151822NTHL1c.239del (p.Glu80GlyfsTer15)
c.194del (p.Glu65GlyfsTer15)
c.263del (p.Glu88GlyfsTer15)
c.159del
c.202del
c.173+37del
c.24+37del (n.24+37del)
ClinVar dbSNP
16g.2046243T>ACA394297242NTHL1c.239A>T (p.Glu80Val)
c.194A>T (p.Glu65Val)
c.263A>T (p.Glu88Val)
c.159A>T
c.202A>T
c.173+37A>T
c.24+37A>T (n.24+37A>T)
16g.2046243T>CCA394297237NTHL1c.239A>G (p.Glu80Gly)
c.194A>G (p.Glu65Gly)
c.263A>G (p.Glu88Gly)
c.159A>G
c.202A>G
c.173+37A>G
c.24+37A>G (n.24+37A>G)
dbSNP
16g.2046243T>GCA394297240NTHL1c.239A>C (p.Glu80Ala)
c.194A>C (p.Glu65Ala)
c.263A>C (p.Glu88Ala)
c.159A>C
c.202A>C
c.173+37A>C
c.24+37A>C (n.24+37A>C)
16g.2046244C>ACA394297246NTHL1c.238G>T (p.Glu80Ter)
c.193G>T (p.Glu65Ter)
c.262G>T (p.Glu88Ter)
c.158G>T
c.201G>T
c.173+36G>T
c.24+36G>T (n.24+36G>T)
dbSNP
16g.2046244C>GCA394297247NTHL1c.238G>C (p.Glu80Gln)
c.193G>C (p.Glu65Gln)
c.262G>C (p.Glu88Gln)
c.158G>C
c.201G>C
c.173+36G>C
c.24+36G>C (n.24+36G>C)
gnomAD v4
16g.2046244C>TCA394297251NTHL1c.238G>A (p.Glu80Lys)
c.193G>A (p.Glu65Lys)
c.262G>A (p.Glu88Lys)
c.158G>A
c.201G>A
c.173+36G>A
c.24+36G>A (n.24+36G>A)
16g.2046245C>ACA394297255NTHL1c.237G>T (p.Trp79Cys)
c.192G>T (p.Trp64Cys)
c.261G>T (p.Trp87Cys)
c.157G>T
c.200G>T
c.173+35G>T
c.24+35G>T (n.24+35G>T)
dbSNP
16g.2046245C=CA2201986765NTHL1c.237G= (p.Trp79=)
c.192G= (p.Trp64=)
c.261G= (p.Trp87=)
c.157G=
c.200G=
c.173+35G=
c.24+35G= (n.24+35G=)
16g.2046245C>GCA394297262NTHL1c.237G>C (p.Trp79Cys)
c.192G>C (p.Trp64Cys)
c.261G>C (p.Trp87Cys)
c.157G>C
c.200G>C
c.173+35G>C
c.24+35G>C (n.24+35G>C)
ClinVar dbSNP
16g.2046245C>TCA394297266NTHL1c.237G>A (p.Trp79Ter)
c.192G>A (p.Trp64Ter)
c.261G>A (p.Trp87Ter)
c.157G>A
c.200G>A
c.173+35G>A
c.24+35G>A (n.24+35G>A)
ClinVar dbSNP
16g.2046246C>ACA394297273NTHL1c.236G>T (p.Trp79Leu)
c.191G>T (p.Trp64Leu)
c.260G>T (p.Trp87Leu)
c.156G>T
c.199G>T
c.173+34G>T
c.24+34G>T (n.24+34G>T)
ClinVar dbSNP
16g.2046246C>GCA394297277NTHL1c.236G>C (p.Trp79Ser)
c.191G>C (p.Trp64Ser)
c.260G>C (p.Trp87Ser)
c.156G>C
c.199G>C
c.173+34G>C
c.24+34G>C (n.24+34G>C)
16g.2046246C>TCA394297311NTHL1c.236G>A (p.Trp79Ter)
c.191G>A (p.Trp64Ter)
c.260G>A (p.Trp87Ter)
c.156G>A
c.199G>A
c.173+34G>A
c.24+34G>A (n.24+34G>A)
16g.2046247A=CA2201986768NTHL1c.235T= (p.Trp79=)
c.190T= (p.Trp64=)
c.259T= (p.Trp87=)
c.155T=
c.198T=
c.173+33T=
c.24+33T= (n.24+33T=)
16g.2046247A>CCA394297314NTHL1c.235T>G (p.Trp79Gly)
c.190T>G (p.Trp64Gly)
c.259T>G (p.Trp87Gly)
c.155T>G
c.198T>G
c.173+33T>G
c.24+33T>G (n.24+33T>G)
ClinVar dbSNP gnomAD v4
16g.2046247A>GCA394297315NTHL1c.235T>C (p.Trp79Arg)
c.190T>C (p.Trp64Arg)
c.259T>C (p.Trp87Arg)
c.155T>C
c.198T>C
c.173+33T>C
c.24+33T>C (n.24+33T>C)
16g.2046247A>TCA394297316NTHL1c.235T>A (p.Trp79Arg)
c.190T>A (p.Trp64Arg)
c.259T>A (p.Trp87Arg)
c.155T>A
c.198T>A
c.173+33T>A
c.24+33T>A (n.24+33T>A)
16g.2046248G>ACA492953321NTHL1c.234C>T (p.Val78=)
c.189C>T (p.Val63=)
c.258C>T (p.Val86=)
c.154C>T
c.197C>T
c.173+32C>T
c.24+32C>T (n.24+32C>T)
ClinVar dbSNP
16g.2046248G>CCA492953322NTHL1c.234C>G (p.Val78=)
c.189C>G (p.Val63=)
c.258C>G (p.Val86=)
c.154C>G
c.197C>G
c.173+32C>G
c.24+32C>G (n.24+32C>G)
ClinVar dbSNP gnomAD v4
16g.2046248G=CA2201986771NTHL1c.234C= (p.Val78=)
c.189C= (p.Val63=)
c.258C= (p.Val86=)
c.154C=
c.197C=
c.173+32C=
c.24+32C= (n.24+32C=)
16g.2046248G>TCA492953323NTHL1c.234C>A (p.Val78=)
c.189C>A (p.Val63=)
c.258C>A (p.Val86=)
c.154C>A
c.197C>A
c.173+32C>A
c.24+32C>A (n.24+32C>A)
16g.2046248dupCA2573151823NTHL1c.234dup (p.Trp79LeufsTer30)
c.189dup (p.Trp64LeufsTer30)
c.258dup (p.Trp87LeufsTer30)
c.154dup
c.197dup
c.173+32dup
c.24+32dup (n.24+32dup)
ClinVar dbSNP
16g.2046249A>CCA394297321NTHL1c.233T>G (p.Val78Gly)
c.188T>G (p.Val63Gly)
c.257T>G (p.Val86Gly)
c.153T>G
c.196T>G
c.173+31T>G
c.24+31T>G (n.24+31T>G)
16g.2046249A>GCA394297320NTHL1c.233T>C (p.Val78Ala)
c.188T>C (p.Val63Ala)
c.257T>C (p.Val86Ala)
c.153T>C
c.196T>C
c.173+31T>C
c.24+31T>C (n.24+31T>C)
16g.2046249A>TCA394297319NTHL1c.233T>A (p.Val78Asp)
c.188T>A (p.Val63Asp)
c.257T>A (p.Val86Asp)
c.153T>A
c.196T>A
c.173+31T>A
c.24+31T>A (n.24+31T>A)
16g.2046249_2046250delinsACCA2201986774NTHL1c.232_233delinsGT (p.Val78=)
c.187_188delinsGT (p.Val63=)
c.256_257delinsGT (p.Val86=)
c.152_153delinsGT
c.195_196delinsGT
c.173+30_173+31delinsGT
c.24+30_24+31delinsGT (n.24+30_24+31delinsGT)
16g.2046250delCA718909211NTHL1c.232del (p.Val78SerfsTer17)
c.187del (p.Val63SerfsTer17)
c.256del (p.Val86SerfsTer17)
c.152del
c.195del
c.173+30del
c.24+30del (n.24+30del)
ClinVar dbSNP gnomAD v4

Number of alleles fetched