| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.31179656_31184521del | CA277554 | NF1 | c.587-1766_888+1856del n.970-1766_1271+1856del c.362-1766_663+1856del c.689-1766_990+1856del c.548-1766_849+1856del | ClinVar |
| 17 | g.31181725del | CA2637073975 | NF1 | c.670del (p.Val224Ter) c.85del (p.Val29Ter) c.250del (p.Val84Ter) n.1053del n.304del c.445del c.772del (p.Val258Ter) c.631del (p.Val211Ter) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31181724G>A | CA16043099 | NF1 | c.669G>A (p.Trp223Ter) c.84G>A (p.Trp28Ter) c.249G>A (p.Trp83Ter) n.1052G>A n.303G>A c.444G>A c.771G>A (p.Trp257Ter) c.630G>A (p.Trp210Ter) | ClinVar dbSNP |
| 17 | g.31181724G>C | CA398989739 | NF1 | c.669G>C (p.Trp223Cys) c.84G>C (p.Trp28Cys) c.249G>C (p.Trp83Cys) n.1052G>C n.303G>C c.444G>C c.771G>C (p.Trp257Cys) c.630G>C (p.Trp210Cys) | dbSNP |
| 17 | g.31181724G= | CA2255542100 | NF1 | c.669G= (p.Trp223=) c.84G= (p.Trp28=) c.249G= (p.Trp83=) n.1052G= n.303G= c.444G= c.771G= (p.Trp257=) c.630G= (p.Trp210=) | |
| 17 | g.31181724G>T | CA398989743 | NF1 | c.669G>T (p.Trp223Cys) c.84G>T (p.Trp28Cys) c.249G>T (p.Trp83Cys) n.1052G>T n.303G>T c.444G>T c.771G>T (p.Trp257Cys) c.630G>T (p.Trp210Cys) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31181725G>A | CA398989747 | NF1 | c.670G>A (p.Val224Ile) c.85G>A (p.Val29Ile) c.250G>A (p.Val84Ile) n.1053G>A n.304G>A c.445G>A c.772G>A (p.Val258Ile) c.631G>A (p.Val211Ile) | dbSNP |
| 17 | g.31181725G>C | CA398989750 | NF1 | c.670G>C (p.Val224Leu) c.85G>C (p.Val29Leu) c.250G>C (p.Val84Leu) n.1053G>C n.304G>C c.445G>C c.772G>C (p.Val258Leu) c.631G>C (p.Val211Leu) | ClinVar dbSNP |
| 17 | g.31181725G= | CA2255542101 | NF1 | c.670G= (p.Val224=) c.85G= (p.Val29=) c.250G= (p.Val84=) n.1053G= n.304G= c.445G= c.772G= (p.Val258=) c.631G= (p.Val211=) | |
| 17 | g.31181725G>T | CA398989753 | NF1 | c.670G>T (p.Val224Leu) c.85G>T (p.Val29Leu) c.250G>T (p.Val84Leu) n.1053G>T n.304G>T c.445G>T c.772G>T (p.Val258Leu) c.631G>T (p.Val211Leu) | gnomAD v4 |
| 17 | g.31181726T>A | CA398989758 | NF1 | c.671T>A (p.Val224Glu) c.86T>A (p.Val29Glu) c.251T>A (p.Val84Glu) n.1054T>A n.305T>A c.446T>A c.773T>A (p.Val258Glu) c.632T>A (p.Val211Glu) | |
| 17 | g.31181726T>C | CA398989759 | NF1 | c.671T>C (p.Val224Ala) c.86T>C (p.Val29Ala) c.251T>C (p.Val84Ala) n.1054T>C n.305T>C c.446T>C c.773T>C (p.Val258Ala) c.632T>C (p.Val211Ala) | |
| 17 | g.31181726T>G | CA398989763 | NF1 | c.671T>G (p.Val224Gly) c.86T>G (p.Val29Gly) c.251T>G (p.Val84Gly) n.1054T>G n.305T>G c.446T>G c.773T>G (p.Val258Gly) c.632T>G (p.Val211Gly) | |
| 17 | g.31181726dup | CA2695225243 | NF1 | c.671dup (p.Glu225ArgfsTer6) c.86dup (p.Glu30ArgfsTer6) c.251dup (p.Glu85ArgfsTer6) n.1054dup n.305dup c.446dup c.773dup (p.Glu259ArgfsTer6) c.632dup (p.Glu212ArgfsTer6) | |
| 17 | g.31181727A>C | CA499207279 | NF1 | c.672A>C (p.Val224=) c.87A>C (p.Val29=) c.252A>C (p.Val84=) n.1055A>C n.306A>C c.447A>C c.774A>C (p.Val258=) c.633A>C (p.Val211=) | |
| 17 | g.31181727A>G | CA499207284 | NF1 | c.672A>G (p.Val224=) c.87A>G (p.Val29=) c.252A>G (p.Val84=) n.1055A>G n.306A>G c.447A>G c.774A>G (p.Val258=) c.633A>G (p.Val211=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31181727A>T | CA499207285 | NF1 | c.672A>T (p.Val224=) c.87A>T (p.Val29=) c.252A>T (p.Val84=) n.1055A>T n.306A>T c.447A>T c.774A>T (p.Val258=) c.633A>T (p.Val211=) | |
| 17 | g.31181727_31181728delinsTT | CA2739267279 | NF1 | c.672_673delinsTT (p.Val225Ter) c.87_88delinsTT (p.Val30Ter) c.252_253delinsTT (p.Val85Ter) n.1055_1056delinsTT n.306_307delinsTT c.447_448delinsTT c.774_775delinsTT (p.Val259Ter) c.633_634delinsTT (p.Val212Ter) | ClinVar |
| 17 | g.31181728G>A | CA398989768 | NF1 | c.673G>A (p.Glu225Lys) c.88G>A (p.Glu30Lys) c.253G>A (p.Glu85Lys) n.1056G>A n.307G>A c.448G>A c.775G>A (p.Glu259Lys) c.634G>A (p.Glu212Lys) | dbSNP |
| 17 | g.31181728G>C | CA398989774 | NF1 | c.673G>C (p.Glu225Gln) c.88G>C (p.Glu30Gln) c.253G>C (p.Glu85Gln) n.1056G>C n.307G>C c.448G>C c.775G>C (p.Glu259Gln) c.634G>C (p.Glu212Gln) | dbSNP |
| 17 | g.31181728G>T | CA398989771 | NF1 | c.673G>T (p.Glu225Ter) c.88G>T (p.Glu30Ter) c.253G>T (p.Glu85Ter) n.1056G>T n.307G>T c.448G>T c.775G>T (p.Glu259Ter) c.634G>T (p.Glu212Ter) | |
| 17 | g.31181729A>C | CA398989779 | NF1 | c.674A>C (p.Glu225Ala) c.89A>C (p.Glu30Ala) c.254A>C (p.Glu85Ala) n.1057A>C n.308A>C c.449A>C c.776A>C (p.Glu259Ala) c.635A>C (p.Glu212Ala) | |
| 17 | g.31181729A>G | CA398989783 | NF1 | c.674A>G (p.Glu225Gly) c.89A>G (p.Glu30Gly) c.254A>G (p.Glu85Gly) n.1057A>G n.308A>G c.449A>G c.776A>G (p.Glu259Gly) c.635A>G (p.Glu212Gly) | |
| 17 | g.31181729A>T | CA398989788 | NF1 | c.674A>T (p.Glu225Val) c.89A>T (p.Glu30Val) c.254A>T (p.Glu85Val) n.1057A>T n.308A>T c.449A>T c.776A>T (p.Glu259Val) c.635A>T (p.Glu212Val) | dbSNP |
| 17 | g.31181730A>C | CA398989795 | NF1 | c.675A>C (p.Glu225Asp) c.90A>C (p.Glu30Asp) c.255A>C (p.Glu85Asp) n.1058A>C n.309A>C c.450A>C c.777A>C (p.Glu259Asp) c.636A>C (p.Glu212Asp) | |
| 17 | g.31181730A>G | CA499207310 | NF1 | c.675A>G (p.Glu225=) c.90A>G (p.Glu30=) c.255A>G (p.Glu85=) n.1058A>G n.309A>G c.450A>G c.777A>G (p.Glu259=) c.636A>G (p.Glu212=) | |
| 17 | g.31181730A>T | CA398989798 | NF1 | c.675A>T (p.Glu225Asp) c.90A>T (p.Glu30Asp) c.255A>T (p.Glu85Asp) n.1058A>T n.309A>T c.450A>T c.777A>T (p.Glu259Asp) c.636A>T (p.Glu212Asp) | |
| 17 | g.31181731A>C | CA398989802 | NF1 | c.676A>C (p.Asn226His) c.91A>C (p.Asn31His) c.256A>C (p.Asn86His) n.1059A>C n.310A>C c.451A>C c.778A>C (p.Asn260His) c.637A>C (p.Asn213His) | |
| 17 | g.31181731A>G | CA398989803 | NF1 | c.676A>G (p.Asn226Asp) c.91A>G (p.Asn31Asp) c.256A>G (p.Asn86Asp) n.1059A>G n.310A>G c.451A>G c.778A>G (p.Asn260Asp) c.637A>G (p.Asn213Asp) | ClinVar |
| 17 | g.31181731A>T | CA398989804 | NF1 | c.676A>T (p.Asn226Tyr) c.91A>T (p.Asn31Tyr) c.256A>T (p.Asn86Tyr) n.1059A>T n.310A>T c.451A>T c.778A>T (p.Asn260Tyr) c.637A>T (p.Asn213Tyr) | |
| 17 | g.31181732A= | CA2255542102 | NF1 | c.677A= (p.Asn226=) c.92A= (p.Asn31=) c.257A= (p.Asn86=) n.1060A= n.311A= c.452A= c.779A= (p.Asn260=) c.638A= (p.Asn213=) | |
| 17 | g.31181732A>C | CA8485604 | NF1 | c.677A>C (p.Asn226Thr) c.92A>C (p.Asn31Thr) c.257A>C (p.Asn86Thr) n.1060A>C n.311A>C c.452A>C c.779A>C (p.Asn260Thr) c.638A>C (p.Asn213Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.31181732A>G | CA398989807 | NF1 | c.677A>G (p.Asn226Ser) c.92A>G (p.Asn31Ser) c.257A>G (p.Asn86Ser) n.1060A>G n.311A>G c.452A>G c.779A>G (p.Asn260Ser) c.638A>G (p.Asn213Ser) | |
| 17 | g.31181732A>T | CA398989811 | NF1 | c.677A>T (p.Asn226Ile) c.92A>T (p.Asn31Ile) c.257A>T (p.Asn86Ile) n.1060A>T n.311A>T c.452A>T c.779A>T (p.Asn260Ile) c.638A>T (p.Asn213Ile) | dbSNP |
| 17 | g.31181733T>A | CA398989816 | NF1 | c.678T>A (p.Asn226Lys) c.93T>A (p.Asn31Lys) c.258T>A (p.Asn86Lys) n.1061T>A n.312T>A c.453T>A c.780T>A (p.Asn260Lys) c.639T>A (p.Asn213Lys) | dbSNP |
| 17 | g.31181733T>C | CA499207358 | NF1 | c.678T>C (p.Asn226=) c.93T>C (p.Asn31=) c.258T>C (p.Asn86=) n.1061T>C n.312T>C c.453T>C c.780T>C (p.Asn260=) c.639T>C (p.Asn213=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 17 | g.31181733T>G | CA398989826 | NF1 | c.678T>G (p.Asn226Lys) c.93T>G (p.Asn31Lys) c.258T>G (p.Asn86Lys) n.1061T>G n.312T>G c.453T>G c.780T>G (p.Asn260Lys) c.639T>G (p.Asn213Lys) | dbSNP |
| 17 | g.31181734T>A | CA398989838 | NF1 | c.679T>A (p.Tyr227Asn) c.94T>A (p.Tyr32Asn) c.259T>A (p.Tyr87Asn) n.1062T>A n.313T>A c.454T>A c.781T>A (p.Tyr261Asn) c.640T>A (p.Tyr214Asn) | dbSNP |
| 17 | g.31181734T>C | CA8485605 | NF1 | c.679T>C (p.Tyr227His) c.94T>C (p.Tyr32His) c.259T>C (p.Tyr87His) n.1062T>C n.313T>C c.454T>C c.781T>C (p.Tyr261His) c.640T>C (p.Tyr214His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.31181734T>G | CA398989835 | NF1 | c.679T>G (p.Tyr227Asp) c.94T>G (p.Tyr32Asp) c.259T>G (p.Tyr87Asp) n.1062T>G n.313T>G c.454T>G c.781T>G (p.Tyr261Asp) c.640T>G (p.Tyr214Asp) | |
| 17 | g.31181734T= | CA2255542103 | NF1 | c.679T= (p.Tyr227=) c.94T= (p.Tyr32=) c.259T= (p.Tyr87=) n.1062T= n.313T= c.454T= c.781T= (p.Tyr261=) c.640T= (p.Tyr214=) | |
| 17 | g.31181735A= | CA2255542104 | NF1 | c.680A= (p.Tyr227=) c.95A= (p.Tyr32=) c.260A= (p.Tyr87=) n.1063A= n.314A= c.455A= c.782A= (p.Tyr261=) c.641A= (p.Tyr214=) | |
| 17 | g.31181735A>C | CA398989847 | NF1 | c.680A>C (p.Tyr227Ser) c.95A>C (p.Tyr32Ser) c.260A>C (p.Tyr87Ser) n.1063A>C n.314A>C c.455A>C c.782A>C (p.Tyr261Ser) c.641A>C (p.Tyr214Ser) | |
| 17 | g.31181735A>G | CA398989850 | NF1 | c.680A>G (p.Tyr227Cys) c.95A>G (p.Tyr32Cys) c.260A>G (p.Tyr87Cys) n.1063A>G n.314A>G c.455A>G c.782A>G (p.Tyr261Cys) c.641A>G (p.Tyr214Cys) | ClinVar dbSNP |
| 17 | g.31181735A>T | CA398989855 | NF1 | c.680A>T (p.Tyr227Phe) c.95A>T (p.Tyr32Phe) c.260A>T (p.Tyr87Phe) n.1063A>T n.314A>T c.455A>T c.782A>T (p.Tyr261Phe) c.641A>T (p.Tyr214Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.31181736T>A | CA398989860 | NF1 | c.681T>A (p.Tyr227Ter) c.96T>A (p.Tyr32Ter) c.261T>A (p.Tyr87Ter) n.1064T>A n.315T>A c.456T>A c.783T>A (p.Tyr261Ter) c.642T>A (p.Tyr214Ter) | ClinVar dbSNP |
| 17 | g.31181736T>C | CA8485606 | NF1 | c.681T>C (p.Tyr227=) c.96T>C (p.Tyr32=) c.261T>C (p.Tyr87=) n.1064T>C n.315T>C c.456T>C c.783T>C (p.Tyr261=) c.642T>C (p.Tyr214=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 17 | g.31181736T>G | CA398989869 | NF1 | c.681T>G (p.Tyr227Ter) c.96T>G (p.Tyr32Ter) c.261T>G (p.Tyr87Ter) n.1064T>G n.315T>G c.456T>G c.783T>G (p.Tyr261Ter) c.642T>G (p.Tyr214Ter) | ClinVar dbSNP |
| 17 | g.31181736T= | CA2255542105 | NF1 | c.681T= (p.Tyr227=) c.96T= (p.Tyr32=) c.261T= (p.Tyr87=) n.1064T= n.315T= c.456T= c.783T= (p.Tyr261=) c.642T= (p.Tyr214=) | |
| 17 | g.31181737C>A | CA398989875 | NF1 | c.682C>A (p.Pro228Thr) c.97C>A (p.Pro33Thr) c.262C>A (p.Pro88Thr) n.1065C>A n.316C>A c.457C>A c.784C>A (p.Pro262Thr) c.643C>A (p.Pro215Thr) | dbSNP gnomAD v4 |