| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.39872380_39872381delinsAG | CA2259290881 | ZPBP2 | c.517_518delinsAG (p.Ser173=) c.451_452delinsAG (p.Ser151=) c.163_164delinsAG (p.Ser55=) c.407-664_407-663delinsAG (n.407-664_407-663delinsAG) n.708_709delinsAG | |
| 17 | g.39872381del | CA771906275 | ZPBP2 | c.518del (p.Ser173IlefsTer2) c.452del (p.Ser151IlefsTer2) c.164del (p.Ser55IlefsTer2) c.407-663del (n.407-663del) n.709del | dbSNP |
| 17 | g.39872381G>A | CA399279772 | ZPBP2 | c.518G>A (p.Ser173Asn) c.452G>A (p.Ser151Asn) c.164G>A (p.Ser55Asn) c.407-663G>A (n.407-663G>A) n.709G>A | |
| 17 | g.39872381G>C | CA399279773 | ZPBP2 | c.518G>C (p.Ser173Thr) c.452G>C (p.Ser151Thr) c.164G>C (p.Ser55Thr) c.407-663G>C (n.407-663G>C) n.709G>C | |
| 17 | g.39872381G= | CA2259290883 | ZPBP2 | c.518G= (p.Ser173=) c.452G= (p.Ser151=) c.164G= (p.Ser55=) c.407-663G= (n.407-663G=) n.709G= | |
| 17 | g.39872381G>T | CA8535970 | ZPBP2 | c.518G>T (p.Ser173Ile) c.452G>T (p.Ser151Ile) c.164G>T (p.Ser55Ile) c.407-663G>T (n.407-663G>T) n.709G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39872381_39872382delinsGT | CA2259290884 | ZPBP2 | c.518_519delinsGT (p.Ser173=) c.452_453delinsGT (p.Ser151=) c.164_165delinsGT (p.Ser55=) c.407-663_407-662delinsGT (n.407-663_407-662delinsGT) n.709_710delinsGT | |
| 17 | g.39872381_39872382delinsTC | CA290455854 | ZPBP2 | c.518_519delinsTC (p.Ser173Ile) c.452_453delinsTC (p.Ser151Ile) c.164_165delinsTC (p.Ser55Ile) c.407-663_407-662delinsTC (n.407-663_407-662delinsTC) n.709_710delinsTC | dbSNP |
| 17 | g.39872382T>A | CA399279778 | ZPBP2 | c.519T>A (p.Ser173Arg) c.453T>A (p.Ser151Arg) c.165T>A (p.Ser55Arg) c.407-662T>A (n.407-662T>A) n.710T>A | |
| 17 | g.39872382T>C | CA8535971 | ZPBP2 | c.519T>C (p.Ser173=) c.453T>C (p.Ser151=) c.165T>C (p.Ser55=) c.407-662T>C (n.407-662T>C) n.710T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39872382T>G | CA399279776 | ZPBP2 | c.519T>G (p.Ser173Arg) c.453T>G (p.Ser151Arg) c.165T>G (p.Ser55Arg) c.407-662T>G (n.407-662T>G) n.710T>G | |
| 17 | g.39872382T= | CA2259290885 | ZPBP2 | c.519T= (p.Ser173=) c.453T= (p.Ser151=) c.165T= (p.Ser55=) c.407-662T= (n.407-662T=) n.710T= | |
| 17 | g.39872383C>A | CA399279783 | ZPBP2 | c.520C>A (p.Leu174Ile) c.454C>A (p.Leu152Ile) c.166C>A (p.Leu56Ile) c.407-661C>A (n.407-661C>A) n.711C>A | gnomAD v4 |
| 17 | g.39872383C= | CA2259290886 | ZPBP2 | c.520C= (p.Leu174=) c.454C= (p.Leu152=) c.166C= (p.Leu56=) c.407-661C= (n.407-661C=) n.711C= | |
| 17 | g.39872383C>G | CA399279784 | ZPBP2 | c.520C>G (p.Leu174Val) c.454C>G (p.Leu152Val) c.166C>G (p.Leu56Val) c.407-661C>G (n.407-661C>G) n.711C>G | |
| 17 | g.39872383C>T | CA8535972 | ZPBP2 | c.520C>T (p.Leu174=) c.454C>T (p.Leu152=) c.166C>T (p.Leu56=) c.407-661C>T (n.407-661C>T) n.711C>T | dbSNP ExAC gnomAD v2 |
| 17 | g.39872384T>A | CA399279788 | ZPBP2 | c.521T>A (p.Leu174Gln) c.455T>A (p.Leu152Gln) c.167T>A (p.Leu56Gln) c.407-660T>A (n.407-660T>A) n.712T>A | |
| 17 | g.39872384T>C | CA399279789 | ZPBP2 | c.521T>C (p.Leu174Pro) c.455T>C (p.Leu152Pro) c.167T>C (p.Leu56Pro) c.407-660T>C (n.407-660T>C) n.712T>C | |
| 17 | g.39872384T>G | CA399279792 | ZPBP2 | c.521T>G (p.Leu174Arg) c.455T>G (p.Leu152Arg) c.167T>G (p.Leu56Arg) c.407-660T>G (n.407-660T>G) n.712T>G | gnomAD v4 |
| 17 | g.39872384dup | CA8535973 | ZPBP2 | c.521dup (p.Ile175AsnfsTer3) c.455dup (p.Ile153AsnfsTer3) c.167dup (p.Ile57AsnfsTer3) c.407-660dup (n.407-660dup) n.712dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39872385A= | CA2259290887 | ZPBP2 | c.522A= (p.Leu174=) c.456A= (p.Leu152=) c.168A= (p.Leu56=) c.407-659A= (n.407-659A=) n.713A= | |
| 17 | g.39872385A>C | CA290455880 | ZPBP2 | c.522A>C (p.Leu174=) c.456A>C (p.Leu152=) c.168A>C (p.Leu56=) c.407-659A>C (n.407-659A>C) n.713A>C | dbSNP gnomAD v4 |
| 17 | g.39872385A>G | CA499931724 | ZPBP2 | c.522A>G (p.Leu174=) c.456A>G (p.Leu152=) c.168A>G (p.Leu56=) c.407-659A>G (n.407-659A>G) n.713A>G | |
| 17 | g.39872385A>T | CA499931725 | ZPBP2 | c.522A>T (p.Leu174=) c.456A>T (p.Leu152=) c.168A>T (p.Leu56=) c.407-659A>T (n.407-659A>T) n.713A>T | |
| 17 | g.39872386A= | CA2259290888 | ZPBP2 | c.523A= (p.Ile175=) c.457A= (p.Ile153=) c.169A= (p.Ile57=) c.407-658A= (n.407-658A=) n.714A= | |
| 17 | g.39872386A>C | CA8535974 | ZPBP2 | c.523A>C (p.Ile175Leu) c.457A>C (p.Ile153Leu) c.169A>C (p.Ile57Leu) c.407-658A>C (n.407-658A>C) n.714A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39872386A>G | CA399279794 | ZPBP2 | c.523A>G (p.Ile175Val) c.457A>G (p.Ile153Val) c.169A>G (p.Ile57Val) c.407-658A>G (n.407-658A>G) n.714A>G | |
| 17 | g.39872386A>T | CA399279796 | ZPBP2 | c.523A>T (p.Ile175Phe) c.457A>T (p.Ile153Phe) c.169A>T (p.Ile57Phe) c.407-658A>T (n.407-658A>T) n.714A>T | |
| 17 | g.39872386_39872387delinsAT | CA2259290889 | ZPBP2 | c.523_524delinsAT (p.Ile175=) c.457_458delinsAT (p.Ile153=) c.169_170delinsAT (p.Ile57=) c.407-658_407-657delinsAT (n.407-658_407-657delinsAT) n.714_715delinsAT | |
| 17 | g.39872387T>A | CA399279799 | ZPBP2 | c.524T>A (p.Ile175Asn) c.458T>A (p.Ile153Asn) c.170T>A (p.Ile57Asn) c.407-657T>A (n.407-657T>A) n.715T>A | |
| 17 | g.39872387T>C | CA399279802 | ZPBP2 | c.524T>C (p.Ile175Thr) c.458T>C (p.Ile153Thr) c.170T>C (p.Ile57Thr) c.407-657T>C (n.407-657T>C) n.715T>C | |
| 17 | g.39872387T>G | CA399279803 | ZPBP2 | c.524T>G (p.Ile175Ser) c.458T>G (p.Ile153Ser) c.170T>G (p.Ile57Ser) c.407-657T>G (n.407-657T>G) n.715T>G | |
| 17 | g.39872389del | CA8535975 | ZPBP2 | c.526del (p.Ser176LeufsTer8) c.460del (p.Ser154LeufsTer8) c.172del (p.Ser58LeufsTer8) c.407-655del (n.407-655del) n.717del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.39872388T>A | CA499931726 | ZPBP2 | c.525T>A (p.Ile175=) c.459T>A (p.Ile153=) c.171T>A (p.Ile57=) c.407-656T>A (n.407-656T>A) n.716T>A | |
| 17 | g.39872388T>C | CA499931727 | ZPBP2 | c.525T>C (p.Ile175=) c.459T>C (p.Ile153=) c.171T>C (p.Ile57=) c.407-656T>C (n.407-656T>C) n.716T>C | |
| 17 | g.39872388T>G | CA399279807 | ZPBP2 | c.525T>G (p.Ile175Met) c.459T>G (p.Ile153Met) c.171T>G (p.Ile57Met) c.407-656T>G (n.407-656T>G) n.716T>G | |
| 17 | g.39872389T>A | CA399279809 | ZPBP2 | c.526T>A (p.Ser176Thr) c.460T>A (p.Ser154Thr) c.172T>A (p.Ser58Thr) c.407-655T>A (n.407-655T>A) n.717T>A | |
| 17 | g.39872389T>C | CA399279810 | ZPBP2 | c.526T>C (p.Ser176Pro) c.460T>C (p.Ser154Pro) c.172T>C (p.Ser58Pro) c.407-655T>C (n.407-655T>C) n.717T>C | gnomAD v4 |
| 17 | g.39872389T>G | CA399279811 | ZPBP2 | c.526T>G (p.Ser176Ala) c.460T>G (p.Ser154Ala) c.172T>G (p.Ser58Ala) c.407-655T>G (n.407-655T>G) n.717T>G | |
| 17 | g.39872390C>A | CA399279812 | ZPBP2 | c.527C>A (p.Ser176Tyr) c.461C>A (p.Ser154Tyr) c.173C>A (p.Ser58Tyr) c.407-654C>A (n.407-654C>A) n.718C>A | |
| 17 | g.39872390C>G | CA399279813 | ZPBP2 | c.527C>G (p.Ser176Cys) c.461C>G (p.Ser154Cys) c.173C>G (p.Ser58Cys) c.407-654C>G (n.407-654C>G) n.718C>G | |
| 17 | g.39872390C>T | CA399279815 | ZPBP2 | c.527C>T (p.Ser176Phe) c.461C>T (p.Ser154Phe) c.173C>T (p.Ser58Phe) c.407-654C>T (n.407-654C>T) n.718C>T | |
| 17 | g.39872391T>A | CA499931728 | ZPBP2 | c.528T>A (p.Ser176=) c.462T>A (p.Ser154=) c.174T>A (p.Ser58=) c.407-653T>A (n.407-653T>A) n.719T>A | |
| 17 | g.39872391T>C | CA499931730 | ZPBP2 | c.528T>C (p.Ser176=) c.462T>C (p.Ser154=) c.174T>C (p.Ser58=) c.407-653T>C (n.407-653T>C) n.719T>C | |
| 17 | g.39872391T>G | CA499931729 | ZPBP2 | c.528T>G (p.Ser176=) c.462T>G (p.Ser154=) c.174T>G (p.Ser58=) c.407-653T>G (n.407-653T>G) n.719T>G | |
| 17 | g.39872392G>A | CA399279817 | ZPBP2 | c.529G>A (p.Asp177Asn) c.463G>A (p.Asp155Asn) c.175G>A (p.Asp59Asn) c.407-652G>A (n.407-652G>A) n.720G>A | |
| 17 | g.39872392G>C | CA399279819 | ZPBP2 | c.529G>C (p.Asp177His) c.463G>C (p.Asp155His) c.175G>C (p.Asp59His) c.407-652G>C (n.407-652G>C) n.720G>C | |
| 17 | g.39872392G>T | CA399279820 | ZPBP2 | c.529G>T (p.Asp177Tyr) c.463G>T (p.Asp155Tyr) c.175G>T (p.Asp59Tyr) c.407-652G>T (n.407-652G>T) n.720G>T | |
| 17 | g.39872393A>C | CA399279821 | ZPBP2 | c.530A>C (p.Asp177Ala) c.464A>C (p.Asp155Ala) c.176A>C (p.Asp59Ala) c.407-651A>C (n.407-651A>C) n.721A>C | |
| 17 | g.39872393A>G | CA399279822 | ZPBP2 | c.530A>G (p.Asp177Gly) c.464A>G (p.Asp155Gly) c.176A>G (p.Asp59Gly) c.407-651A>G (n.407-651A>G) n.721A>G |