Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.110780969G>A | CA471506404 | RBM20 | c.360G>A (p.Leu120=) c.-25G>A (n.-25G>A) c.195G>A (p.Leu65=) | |
10 | g.110780969G>C | CA471506405 | RBM20 | c.360G>C (p.Leu120=) c.-25G>C (n.-25G>C) c.195G>C (p.Leu65=) | |
10 | g.110780969G>T | CA471506406 | RBM20 | c.360G>T (p.Leu120=) c.-25G>T (n.-25G>T) c.195G>T (p.Leu65=) | |
10 | g.110780970A>C | CA378379783 | RBM20 | c.361A>C (p.Asn121His) c.-24A>C (n.-24A>C) c.196A>C (p.Asn66His) | |
10 | g.110780970A>G | CA378379796 | RBM20 | c.361A>G (p.Asn121Asp) c.-24A>G (n.-24A>G) c.196A>G (p.Asn66Asp) | |
10 | g.110780970A>T | CA378379787 | RBM20 | c.361A>T (p.Asn121Tyr) c.-24A>T (n.-24A>T) c.196A>T (p.Asn66Tyr) | |
10 | g.110780971A>C | CA378379800 | RBM20 | c.362A>C (p.Asn121Thr) c.-23A>C (n.-23A>C) c.197A>C (p.Asn66Thr) | |
10 | g.110780971A>G | CA378379801 | RBM20 | c.362A>G (p.Asn121Ser) c.-23A>G (n.-23A>G) c.197A>G (p.Asn66Ser) | dbSNP gnomAD v4 |
10 | g.110780971A>T | CA378379803 | RBM20 | c.362A>T (p.Asn121Ile) c.-23A>T (n.-23A>T) c.197A>T (p.Asn66Ile) | |
10 | g.110780972C>A | CA378379804 | RBM20 | c.363C>A (p.Asn121Lys) c.-22C>A (n.-22C>A) c.198C>A (p.Asn66Lys) | |
10 | g.110780972C>G | CA378379807 | RBM20 | c.363C>G (p.Asn121Lys) c.-22C>G (n.-22C>G) c.198C>G (p.Asn66Lys) | ClinVar dbSNP gnomAD v4 |
10 | g.110780972C>T | CA184615 | RBM20 | c.363C>T (p.Asn121=) c.-22C>T (n.-22C>T) c.198C>T (p.Asn66=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110780973C>A | CA183419 | RBM20 | c.364C>A (p.Gln122Lys) c.-21C>A (n.-21C>A) c.199C>A (p.Gln67Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110780973C>G | CA378379808 | RBM20 | c.364C>G (p.Gln122Glu) c.-21C>G (n.-21C>G) c.199C>G (p.Gln67Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110780973C>T | CA378379809 | RBM20 | c.364C>T (p.Gln122Ter) c.-21C>T (n.-21C>T) c.199C>T (p.Gln67Ter) | |
10 | g.110780974A>C | CA378379812 | RBM20 | c.365A>C (p.Gln122Pro) c.-20A>C (n.-20A>C) c.200A>C (p.Gln67Pro) | ClinVar |
10 | g.110780974A>G | CA378379819 | RBM20 | c.365A>G (p.Gln122Arg) c.-20A>G (n.-20A>G) c.200A>G (p.Gln67Arg) | gnomAD v4 |
10 | g.110780974A>T | CA378379822 | RBM20 | c.365A>T (p.Gln122Leu) c.-20A>T (n.-20A>T) c.200A>T (p.Gln67Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110780974_110780976del | CA2610891277 | RBM20 | c.365_367del (p.Gln122_Val123delinsLeu) c.-20_-18del (n.-20_-18del) c.200_202del (p.Gln67_Val68delinsLeu) | gnomAD v4 |
10 | g.110780975A>C | CA378379827 | RBM20 | c.366A>C (p.Gln122His) c.-19A>C (n.-19A>C) c.201A>C (p.Gln67His) | |
10 | g.110780975A>G | CA471506414 | RBM20 | c.366A>G (p.Gln122=) c.-19A>G (n.-19A>G) c.201A>G (p.Gln67=) | |
10 | g.110780975A>T | CA378379829 | RBM20 | c.366A>T (p.Gln122His) c.-19A>T (n.-19A>T) c.201A>T (p.Gln67His) | |
10 | g.110780975_110780976insAGT | CA2574667332 | RBM20 | c.366_367insAGT (p.Gln122_Val123insSer) c.-19_-18insAGT (n.-19_-18insAGT) c.201_202insAGT (p.Gln67_Val68insSer) | |
10 | g.110780976G>A | CA378379838 | RBM20 | c.367G>A (p.Val123Ile) c.-18G>A (n.-18G>A) c.202G>A (p.Val68Ile) | |
10 | g.110780976G>C | CA378379841 | RBM20 | c.367G>C (p.Val123Leu) c.-18G>C (n.-18G>C) c.202G>C (p.Val68Leu) | |
10 | g.110780976G>T | CA378379844 | RBM20 | c.367G>T (p.Val123Phe) c.-18G>T (n.-18G>T) c.202G>T (p.Val68Phe) | |
10 | g.110780977T>A | CA378379846 | RBM20 | c.368T>A (p.Val123Asp) c.-17T>A (n.-17T>A) c.203T>A (p.Val68Asp) | |
10 | g.110780977T>C | CA378379849 | RBM20 | c.368T>C (p.Val123Ala) c.-17T>C (n.-17T>C) c.203T>C (p.Val68Ala) | |
10 | g.110780977T>G | CA378379852 | RBM20 | c.368T>G (p.Val123Gly) c.-17T>G (n.-17T>G) c.203T>G (p.Val68Gly) | |
10 | g.110780978C>A | CA213234600 | RBM20 | c.369C>A (p.Val123=) c.-16C>A (n.-16C>A) c.204C>A (p.Val68=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.110780978C>G | CA471506419 | RBM20 | c.369C>G (p.Val123=) c.-16C>G (n.-16C>G) c.204C>G (p.Val68=) | |
10 | g.110780978C>T | CA471506418 | RBM20 | c.369C>T (p.Val123=) c.-16C>T (n.-16C>T) c.204C>T (p.Val68=) | |
10 | g.110780979C>A | CA378379855 | RBM20 | c.370C>A (p.Leu124Ile) c.-15C>A (n.-15C>A) c.205C>A (p.Leu69Ile) | gnomAD v4 |
10 | g.110780979C>G | CA213234603 | RBM20 | c.370C>G (p.Leu124Val) c.-15C>G (n.-15C>G) c.205C>G (p.Leu69Val) | dbSNP |
10 | g.110780979C>T | CA378379863 | RBM20 | c.370C>T (p.Leu124Phe) c.-15C>T (n.-15C>T) c.205C>T (p.Leu69Phe) | |
10 | g.110780980T>A | CA378379867 | RBM20 | c.371T>A (p.Leu124His) c.-14T>A (n.-14T>A) c.206T>A (p.Leu69His) | |
10 | g.110780980T>C | CA378379868 | RBM20 | c.371T>C (p.Leu124Pro) c.-14T>C (n.-14T>C) c.206T>C (p.Leu69Pro) | ClinVar gnomAD v4 |
10 | g.110780980T>G | CA378379869 | RBM20 | c.371T>G (p.Leu124Arg) c.-14T>G (n.-14T>G) c.206T>G (p.Leu69Arg) | |
10 | g.110780981C>A | CA471506422 | RBM20 | c.372C>A (p.Leu124=) c.-13C>A (n.-13C>A) c.207C>A (p.Leu69=) | dbSNP gnomAD v2 |
10 | g.110780981C>G | CA471506423 | RBM20 | c.372C>G (p.Leu124=) c.-13C>G (n.-13C>G) c.207C>G (p.Leu69=) | |
10 | g.110780981C>T | CA471506424 | RBM20 | c.372C>T (p.Leu124=) c.-13C>T (n.-13C>T) c.207C>T (p.Leu69=) | gnomAD v4 |
10 | g.110780982T>A | CA378379870 | RBM20 | c.373T>A (p.Ser125Thr) c.-12T>A (n.-12T>A) c.208T>A (p.Ser70Thr) | |
10 | g.110780982T>C | CA378379872 | RBM20 | c.373T>C (p.Ser125Pro) c.-12T>C (n.-12T>C) c.208T>C (p.Ser70Pro) | |
10 | g.110780982T>G | CA378379871 | RBM20 | c.373T>G (p.Ser125Ala) c.-12T>G (n.-12T>G) c.208T>G (p.Ser70Ala) | |
10 | g.110780983C>A | CA378379876 | RBM20 | c.374C>A (p.Ser125Tyr) c.-11C>A (n.-11C>A) c.209C>A (p.Ser70Tyr) | gnomAD v4 |
10 | g.110780983C>G | CA378379877 | RBM20 | c.374C>G (p.Ser125Cys) c.-11C>G (n.-11C>G) c.209C>G (p.Ser70Cys) | |
10 | g.110780983C>T | CA378379882 | RBM20 | c.374C>T (p.Ser125Phe) c.-11C>T (n.-11C>T) c.209C>T (p.Ser70Phe) | |
10 | g.110780984C>A | CA471506428 | RBM20 | c.375C>A (p.Ser125=) c.-10C>A (n.-10C>A) c.210C>A (p.Ser70=) | |
10 | g.110780984C>G | CA471506429 | RBM20 | c.375C>G (p.Ser125=) c.-10C>G (n.-10C>G) c.210C>G (p.Ser70=) | |
10 | g.110780984C>T | CA471506430 | RBM20 | c.375C>T (p.Ser125=) c.-10C>T (n.-10C>T) c.210C>T (p.Ser70=) |