Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.1985960_1986010del | CA2631092520 | GFER | c.325_375del (p.Pro109_Lys125del) c.550_600del (p.Pro184_Lys200del) n.707_757del c.*23_*73del (n.*23_*73del) | gnomAD v4 |
16 | g.1985999G>A | CA7826100 | GFER | c.364G>A (p.Asp122Asn) c.589G>A (p.Asp197Asn) n.746G>A c.*62G>A (n.*62G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1985999G>C | CA394304646 | GFER | c.364G>C (p.Asp122His) c.589G>C (p.Asp197His) n.746G>C c.*62G>C (n.*62G>C) | |
16 | g.1985999G= | CA2201967843 | GFER | c.364G= (p.Asp122=) c.589G= (p.Asp197=) n.746G= c.*62G= (n.*62G=) | |
16 | g.1985999G>T | CA394304649 | GFER | c.364G>T (p.Asp122Tyr) c.589G>T (p.Asp197Tyr) n.746G>T c.*62G>T (n.*62G>T) | gnomAD v4 |
16 | g.1986000A>C | CA394304651 | GFER | c.365A>C (p.Asp122Ala) c.590A>C (p.Asp197Ala) n.747A>C c.*63A>C (n.*63A>C) | |
16 | g.1986000A>G | CA394304652 | GFER | c.365A>G (p.Asp122Gly) c.590A>G (p.Asp197Gly) n.747A>G c.*63A>G (n.*63A>G) | |
16 | g.1986000A>T | CA394304653 | GFER | c.365A>T (p.Asp122Val) c.590A>T (p.Asp197Val) n.747A>T c.*63A>T (n.*63A>T) | |
16 | g.1986001C>A | CA394304654 | GFER | c.366C>A (p.Asp122Glu) c.591C>A (p.Asp197Glu) n.748C>A c.*64C>A (n.*64C>A) | |
16 | g.1986001C= | CA2201967845 | GFER | c.366C= (p.Asp122=) c.591C= (p.Asp197=) n.748C= c.*64C= (n.*64C=) | |
16 | g.1986001C>G | CA7826102 | GFER | c.366C>G (p.Asp122Glu) c.591C>G (p.Asp197Glu) n.748C>G c.*64C>G (n.*64C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1986001C>T | CA7826101 | GFER | c.366C>T (p.Asp122=) c.591C>T (p.Asp197=) n.748C>T c.*64C>T (n.*64C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1986002G>A | CA320714 | GFER | c.367G>A (p.Gly123Ser) c.592G>A (p.Gly198Ser) n.749G>A c.*65G>A (n.*65G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1986002G>C | CA394304660 | GFER | c.367G>C (p.Gly123Arg) c.592G>C (p.Gly198Arg) n.749G>C c.*65G>C (n.*65G>C) | |
16 | g.1986002G= | CA2201967850 | GFER | c.367G= (p.Gly123=) c.592G= (p.Gly198=) n.749G= c.*65G= (n.*65G=) | |
16 | g.1986002G>T | CA394304663 | GFER | c.367G>T (p.Gly123Cys) c.592G>T (p.Gly198Cys) n.749G>T c.*65G>T (n.*65G>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.1986003G>A | CA394304666 | GFER | c.368G>A (p.Gly123Asp) c.593G>A (p.Gly198Asp) n.750G>A c.*66G>A (n.*66G>A) | |
16 | g.1986003G>C | CA394304668 | GFER | c.368G>C (p.Gly123Ala) c.593G>C (p.Gly198Ala) n.750G>C c.*66G>C (n.*66G>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.1986003G= | CA2201967852 | GFER | c.368G= (p.Gly123=) c.593G= (p.Gly198=) n.750G= c.*66G= (n.*66G=) | |
16 | g.1986003G>T | CA394304677 | GFER | c.368G>T (p.Gly123Val) c.593G>T (p.Gly198Val) n.750G>T c.*66G>T (n.*66G>T) | |
16 | g.1986004C>A | CA492950302 | GFER | c.369C>A (p.Gly123=) c.594C>A (p.Gly198=) n.751C>A c.*67C>A (n.*67C>A) | |
16 | g.1986004C>G | CA492950303 | GFER | c.369C>G (p.Gly123=) c.594C>G (p.Gly198=) n.751C>G c.*67C>G (n.*67C>G) | gnomAD v4 |
16 | g.1986004C>T | CA492950304 | GFER | c.369C>T (p.Gly123=) c.594C>T (p.Gly198=) n.751C>T c.*67C>T (n.*67C>T) | |
16 | g.1986005T>A | CA394304683 | GFER | c.370T>A (p.Trp124Arg) c.595T>A (p.Trp199Arg) n.752T>A c.*68T>A (n.*68T>A) | |
16 | g.1986005T>C | CA394304685 | GFER | c.370T>C (p.Trp124Arg) c.595T>C (p.Trp199Arg) n.752T>C c.*68T>C (n.*68T>C) | gnomAD v4 |
16 | g.1986005T>G | CA394304688 | GFER | c.370T>G (p.Trp124Gly) c.595T>G (p.Trp199Gly) n.752T>G c.*68T>G (n.*68T>G) | |
16 | g.1986006G>A | CA394304694 | GFER | c.371G>A (p.Trp124Ter) c.596G>A (p.Trp199Ter) n.753G>A c.*69G>A (n.*69G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.1986006G>C | CA394304692 | GFER | c.371G>C (p.Trp124Ser) c.596G>C (p.Trp199Ser) n.753G>C c.*69G>C (n.*69G>C) | dbSNP |
16 | g.1986006G= | CA2201967853 | GFER | c.371G= (p.Trp124=) c.596G= (p.Trp199=) n.753G= c.*69G= (n.*69G=) | |
16 | g.1986006G>T | CA394304690 | GFER | c.371G>T (p.Trp124Leu) c.596G>T (p.Trp199Leu) n.753G>T c.*69G>T (n.*69G>T) | COSMIC |
16 | g.1986007G>A | CA7826103 | GFER | c.372G>A (p.Trp124Ter) c.597G>A (p.Trp199Ter) n.754G>A c.*70G>A (n.*70G>A) | dbSNP ExAC gnomAD v2 |
16 | g.1986007G>C | CA394304700 | GFER | c.372G>C (p.Trp124Cys) c.597G>C (p.Trp199Cys) n.754G>C c.*70G>C (n.*70G>C) | |
16 | g.1986007G= | CA2201967856 | GFER | c.372G= (p.Trp124=) c.597G= (p.Trp199=) n.754G= c.*70G= (n.*70G=) | |
16 | g.1986007G>T | CA394304704 | GFER | c.372G>T (p.Trp124Cys) c.597G>T (p.Trp199Cys) n.754G>T c.*70G>T (n.*70G>T) | |
16 | g.1986008A>C | CA394304706 | GFER | c.373A>C (p.Lys125Gln) c.598A>C (p.Lys200Gln) n.755A>C c.*71A>C (n.*71A>C) | |
16 | g.1986008A>G | CA394304711 | GFER | c.373A>G (p.Lys125Glu) c.598A>G (p.Lys200Glu) n.755A>G c.*71A>G (n.*71A>G) | |
16 | g.1986008A>T | CA394304713 | GFER | c.373A>T (p.Lys125Ter) c.598A>T (p.Lys200Ter) n.755A>T c.*71A>T (n.*71A>T) | |
16 | g.1986009A>C | CA394304716 | GFER | c.374A>C (p.Lys125Thr) c.599A>C (p.Lys200Thr) n.756A>C c.*72A>C (n.*72A>C) | |
16 | g.1986009A>G | CA394304719 | GFER | c.374A>G (p.Lys125Arg) c.599A>G (p.Lys200Arg) n.756A>G c.*72A>G (n.*72A>G) | |
16 | g.1986009A>T | CA394304720 | GFER | c.374A>T (p.Lys125Met) c.599A>T (p.Lys200Met) n.756A>T c.*72A>T (n.*72A>T) | |
16 | g.1986010G>A | CA7826104 | GFER | c.375G>A (p.Lys125=) c.600G>A (p.Lys200=) n.757G>A c.*73G>A (n.*73G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1986010G>C | CA394304728 | GFER | c.375G>C (p.Lys125Asn) c.600G>C (p.Lys200Asn) n.757G>C c.*73G>C (n.*73G>C) | |
16 | g.1986010G= | CA2201967862 | GFER | c.375G= (p.Lys125=) c.600G= (p.Lys200=) n.757G= c.*73G= (n.*73G=) | |
16 | g.1986010G>T | CA394304730 | GFER | c.375G>T (p.Lys125Asn) c.600G>T (p.Lys200Asn) n.757G>T c.*73G>T (n.*73G>T) | |
16 | g.1986011G>A | CA7826105 | GFER | c.376G>A (p.Asp126Asn) c.601G>A (p.Asp201Asn) n.758G>A c.*74G>A (n.*74G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.1986011G>C | CA7826106 | GFER | c.376G>C (p.Asp126His) c.601G>C (p.Asp201His) n.758G>C c.*74G>C (n.*74G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.1986011G= | CA2201967867 | GFER | c.376G= (p.Asp126=) c.601G= (p.Asp201=) n.758G= c.*74G= (n.*74G=) | |
16 | g.1986011G>T | CA394304735 | GFER | c.376G>T (p.Asp126Tyr) c.601G>T (p.Asp201Tyr) n.758G>T c.*74G>T (n.*74G>T) | |
16 | g.1986012A= | CA2201967870 | GFER | c.377A= (p.Asp126=) c.602A= (p.Asp201=) n.759A= c.*75A= (n.*75A=) | |
16 | g.1986012A>C | CA7826107 | GFER | c.377A>C (p.Asp126Ala) c.602A>C (p.Asp201Ala) n.759A>C c.*75A>C (n.*75A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |