Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.2046229_2046258del | CA2631108820 | NTHL1 | c.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 |
16 | g.2046233_2046242delinsGTCCTGGGGC | CA2201986738 | NTHL1 | c.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) | |
16 | g.2046237_2046245del | CA620704675 | NTHL1 | c.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 |
16 | g.2046238G>A | CA200196 | NTHL1 | c.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 |
16 | g.2046238G>C | CA394297181 | NTHL1 | c.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) | |
16 | g.2046238G= | CA2201986757 | NTHL1 | c.244C= (p.Gln82=) c.199C= (p.Gln67=) c.268C= (p.Gln90=) c.164C= c.207C= c.173+42C= c.24+42C= (n.24+42C=) | |
16 | g.2046238G>T | CA394297184 | NTHL1 | c.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) | |
16 | g.2046239G>A | CA492953316 | NTHL1 | c.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 |
16 | g.2046239G>C | CA492953315 | NTHL1 | c.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) | |
16 | g.2046239G>T | CA492953314 | NTHL1 | c.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) | |
16 | g.2046240G>A | CA394297203 | NTHL1 | c.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 |
16 | g.2046240G>C | CA394297187 | NTHL1 | c.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) | |
16 | g.2046240G= | CA2201986760 | NTHL1 | c.242C= (p.Pro81=) c.197C= (p.Pro66=) c.266C= (p.Pro89=) c.162C= c.205C= c.173+40C= c.24+40C= (n.24+40C=) | |
16 | g.2046240G>T | CA7828338 | NTHL1 | c.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 |
16 | g.2046240_2046241insA | CA2573151821 | NTHL1 | c.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 |
16 | g.2046241G>A | CA394297211 | NTHL1 | c.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 |
16 | g.2046241G>C | CA394297214 | NTHL1 | c.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 |
16 | g.2046241G= | CA2201986762 | NTHL1 | c.241C= (p.Pro81=) c.196C= (p.Pro66=) c.265C= (p.Pro89=) c.161C= c.204C= c.173+39C= c.24+39C= (n.24+39C=) | |
16 | g.2046241G>T | CA394297229 | NTHL1 | c.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 |
16 | g.2046242C>A | CA394297232 | NTHL1 | c.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) | |
16 | g.2046242C>G | CA394297235 | NTHL1 | c.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) | |
16 | g.2046242C>T | CA492953320 | NTHL1 | c.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 |
16 | g.2046243del | CA2573151822 | NTHL1 | c.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 |
16 | g.2046243T>A | CA394297242 | NTHL1 | c.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) | |
16 | g.2046243T>C | CA394297237 | NTHL1 | c.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 |
16 | g.2046243T>G | CA394297240 | NTHL1 | c.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) | |
16 | g.2046244C>A | CA394297246 | NTHL1 | c.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 |
16 | g.2046244C>G | CA394297247 | NTHL1 | c.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 |
16 | g.2046244C>T | CA394297251 | NTHL1 | c.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) | |
16 | g.2046245C>A | CA394297255 | NTHL1 | c.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 |
16 | g.2046245C= | CA2201986765 | NTHL1 | c.237G= (p.Trp79=) c.192G= (p.Trp64=) c.261G= (p.Trp87=) c.157G= c.200G= c.173+35G= c.24+35G= (n.24+35G=) | |
16 | g.2046245C>G | CA394297262 | NTHL1 | c.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 |
16 | g.2046245C>T | CA394297266 | NTHL1 | c.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 |
16 | g.2046246C>A | CA394297273 | NTHL1 | c.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 |
16 | g.2046246C>G | CA394297277 | NTHL1 | c.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) | |
16 | g.2046246C>T | CA394297311 | NTHL1 | c.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) | |
16 | g.2046247A= | CA2201986768 | NTHL1 | c.235T= (p.Trp79=) c.190T= (p.Trp64=) c.259T= (p.Trp87=) c.155T= c.198T= c.173+33T= c.24+33T= (n.24+33T=) | |
16 | g.2046247A>C | CA394297314 | NTHL1 | c.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 |
16 | g.2046247A>G | CA394297315 | NTHL1 | c.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) | |
16 | g.2046247A>T | CA394297316 | NTHL1 | c.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) | |
16 | g.2046248G>A | CA492953321 | NTHL1 | c.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 |
16 | g.2046248G>C | CA492953322 | NTHL1 | c.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 |
16 | g.2046248G= | CA2201986771 | NTHL1 | c.234C= (p.Val78=) c.189C= (p.Val63=) c.258C= (p.Val86=) c.154C= c.197C= c.173+32C= c.24+32C= (n.24+32C=) | |
16 | g.2046248G>T | CA492953323 | NTHL1 | c.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) | |
16 | g.2046248dup | CA2573151823 | NTHL1 | c.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 |
16 | g.2046249A>C | CA394297321 | NTHL1 | c.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) | |
16 | g.2046249A>G | CA394297320 | NTHL1 | c.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) | |
16 | g.2046249A>T | CA394297319 | NTHL1 | c.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) | |
16 | g.2046249_2046250delinsAC | CA2201986774 | NTHL1 | c.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) | |
16 | g.2046250del | CA718909211 | NTHL1 | c.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 |