Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31598039_31598579delinsGGGCTTGGAGACAGGAGACTTGCCTTCCTACTATGGTTCCATCAGAATGTAGACTGGGACAATACAATAATTCAAGTCTGGTTTGCTCATCTGTAAATTGGGAAGAATGTTTCCAGCTCCAGAATGCTAAATCTCTAAGTCTGTGGTTGGCAGCCACTATTGCAGCAGCTCTTCAATGACTCAATGCAGTTTTGCATTCTCCCTACCTTTTTTTTCTAAAACCAATAAAATAGATACAGCCTTTAGGCTTTCTGGGATTTCCCTTAGTCAAGCTAGGGTCATCCTGACTTTCGGCGTGAATTTGCAAAACAAGACCTGACTCTGTACTCCTGCTCTAAGGACTGTGCATGGTTCCAAAGGCTTAGCTTGCCAGCATATTTGAGCTTTTTCCTTCTGTTCAAACTGTTCCAAAATATAAAAGAATAAAATTAATTAAGTTGGCACTGGACTTCCGGTGGTCAGTCATGTGTGTCATCTGTCACGTTTTTCGGGCTCTGGTGGAAATGGATCTGTCTGTCTTCTCTCATAGGTGGTATTCACA | CA2293889082 | TTR | c.337-529_348delinsGGGCTTGGAGACAGGAGACTTGCCTTCCTACTATGGTTCCATCAGAATGTAGACTGGGACAATACAATAATTCAAGTCTGGTTTGCTCATCTGTAAATTGGGAAGAATGTTTCCAGCTCCAGAATGCTAAATCTCTAAGTCTGTGGTTGGCAGCCACTATTGCAGCAGCTCTTCAATGACTCAATGCAGTTTTGCATTCTCCCTACCTTTTTTTTCTAAAACCAATAAAATAGATACAGCCTTTAGGCTTTCTGGGATTTCCCTTAGTCAAGCTAGGGTCATCCTGACTTTCGGCGTGAATTTGCAAAACAAGACCTGACTCTGTACTCCTGCTCTAAGGACTGTGCATGGTTCCAAAGGCTTAGCTTGCCAGCATATTTGAGCTTTTTCCTTCTGTTCAAACTGTTCCAAAATATAAAAGAATAAAATTAATTAAGTTGGCACTGGACTTCCGGTGGTCAGTCATGTGTGTCATCTGTCACGTTTTTCGGGCTCTGGTGGAAATGGATCTGTCTGTCTTCTCTCATAGGTGGTATTCACA c.241-529_252delinsGGGCTTGGAGACAGGAGACTTGCCTTCCTACTATGGTTCCATCAGAATGTAGACTGGGACAATACAATAATTCAAGTCTGGTTTGCTCATCTGTAAATTGGGAAGAATGTTTCCAGCTCCAGAATGCTAAATCTCTAAGTCTGTGGTTGGCAGCCACTATTGCAGCAGCTCTTCAATGACTCAATGCAGTTTTGCATTCTCCCTACCTTTTTTTTCTAAAACCAATAAAATAGATACAGCCTTTAGGCTTTCTGGGATTTCCCTTAGTCAAGCTAGGGTCATCCTGACTTTCGGCGTGAATTTGCAAAACAAGACCTGACTCTGTACTCCTGCTCTAAGGACTGTGCATGGTTCCAAAGGCTTAGCTTGCCAGCATATTTGAGCTTTTTCCTTCTGTTCAAACTGTTCCAAAATATAAAAGAATAAAATTAATTAAGTTGGCACTGGACTTCCGGTGGTCAGTCATGTGTGTCATCTGTCACGTTTTTCGGGCTCTGGTGGAAATGGATCTGTCTGTCTTCTCTCATAGGTGGTATTCACA c.431-34_462delinsGGGCTTGGAGACAGGAGACTTGCCTTCCTACTATGGTTCCATCAGAATGTAGACTGGGACAATACAATAATTCAAGTCTGGTTTGCTCATCTGTAAATTGGGAAGAATGTTTCCAGCTCCAGAATGCTAAATCTCTAAGTCTGTGGTTGGCAGCCACTATTGCAGCAGCTCTTCAATGACTCAATGCAGTTTTGCATTCTCCCTACCTTTTTTTTCTAAAACCAATAAAATAGATACAGCCTTTAGGCTTTCTGGGATTTCCCTTAGTCAAGCTAGGGTCATCCTGACTTTCGGCGTGAATTTGCAAAACAAGACCTGACTCTGTACTCCTGCTCTAAGGACTGTGCATGGTTCCAAAGGCTTAGCTTGCCAGCATATTTGAGCTTTTTCCTTCTGTTCAAACTGTTCCAAAATATAAAAGAATAAAATTAATTAAGTTGGCACTGGACTTCCGGTGGTCAGTCATGTGTGTCATCTGTCACGTTTTTCGGGCTCTGGTGGAAATGGATCTGTCTGTCTTCTCTCATAGGTGGTATTCACA | |
18 | g.31598041_31598580del | CA916081932 | TTR | c.337-527_349del c.241-527_253del c.431-32_463del | ClinVar dbSNP |
18 | g.31598572T>A | CA402158125 | TTR | c.341T>A (p.Val114Glu) c.245T>A (p.Val82Glu) c.455T>A (p.Val152Glu) | |
18 | g.31598572T>C | CA402158127 | TTR | c.341T>C (p.Val114Ala) c.245T>C (p.Val82Ala) c.455T>C (p.Val152Ala) | |
18 | g.31598572T>G | CA402158129 | TTR | c.341T>G (p.Val114Gly) c.245T>G (p.Val82Gly) c.455T>G (p.Val152Gly) | |
18 | g.31598573A>C | CA503610825 | TTR | c.342A>C (p.Val114=) c.246A>C (p.Val82=) c.456A>C (p.Val152=) | |
18 | g.31598573A>G | CA503610826 | TTR | c.342A>G (p.Val114=) c.246A>G (p.Val82=) c.456A>G (p.Val152=) | |
18 | g.31598573A>T | CA503610827 | TTR | c.342A>T (p.Val114=) c.246A>T (p.Val82=) c.456A>T (p.Val152=) | |
18 | g.31598574T>A | CA402158130 | TTR | c.343T>A (p.Phe115Ile) c.247T>A (p.Phe83Ile) c.457T>A (p.Phe153Ile) | |
18 | g.31598574T>C | CA402158131 | TTR | c.343T>C (p.Phe115Leu) c.247T>C (p.Phe83Leu) c.457T>C (p.Phe153Leu) | |
18 | g.31598574T>G | CA402158132 | TTR | c.343T>G (p.Phe115Val) c.247T>G (p.Phe83Val) c.457T>G (p.Phe153Val) | |
18 | g.31598575T>A | CA402158135 | TTR | c.344T>A (p.Phe115Tyr) c.248T>A (p.Phe83Tyr) c.458T>A (p.Phe153Tyr) | |
18 | g.31598575T>C | CA402158133 | TTR | c.344T>C (p.Phe115Ser) c.248T>C (p.Phe83Ser) c.458T>C (p.Phe153Ser) | |
18 | g.31598575T>G | CA402158134 | TTR | c.344T>G (p.Phe115Cys) c.248T>G (p.Phe83Cys) c.458T>G (p.Phe153Cys) | |
18 | g.31598576C>A | CA402158136 | TTR | c.345C>A (p.Phe115Leu) c.249C>A (p.Phe83Leu) c.459C>A (p.Phe153Leu) | |
18 | g.31598576C>G | CA402158137 | TTR | c.345C>G (p.Phe115Leu) c.249C>G (p.Phe83Leu) c.459C>G (p.Phe153Leu) | |
18 | g.31598576C>T | CA503610830 | TTR | c.345C>T (p.Phe115=) c.249C>T (p.Phe83=) c.459C>T (p.Phe153=) | |
18 | g.31598577A>C | CA402158138 | TTR | c.346A>C (p.Thr116Pro) c.250A>C (p.Thr84Pro) c.460A>C (p.Thr154Pro) | |
18 | g.31598577A>G | CA402158139 | TTR | c.346A>G (p.Thr116Ala) c.250A>G (p.Thr84Ala) c.460A>G (p.Thr154Ala) | |
18 | g.31598577A>T | CA402158140 | TTR | c.346A>T (p.Thr116Ser) c.250A>T (p.Thr84Ser) c.460A>T (p.Thr154Ser) | |
18 | g.31598578C>A | CA402158142 | TTR | c.347C>A (p.Thr116Lys) c.251C>A (p.Thr84Lys) c.461C>A (p.Thr154Lys) | |
18 | g.31598578C>G | CA402158141 | TTR | c.347C>G (p.Thr116Arg) c.251C>G (p.Thr84Arg) c.461C>G (p.Thr154Arg) | ClinVar gnomAD v4 |
18 | g.31598578C>T | CA297741802 | TTR | c.347C>T (p.Thr116Ile) c.251C>T (p.Thr84Ile) c.461C>T (p.Thr154Ile) | |
18 | g.31598579A= | CA2293889326 | TTR | c.348A= (p.Thr116=) c.252A= (p.Thr84=) c.462A= (p.Thr154=) | |
18 | g.31598579A>C | CA503610836 | TTR | c.348A>C (p.Thr116=) c.252A>C (p.Thr84=) c.462A>C (p.Thr154=) | |
18 | g.31598579A>G | CA8928497 | TTR | c.348A>G (p.Thr116=) c.252A>G (p.Thr84=) c.462A>G (p.Thr154=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31598579A>T | CA503610834 | TTR | c.348A>T (p.Thr116=) c.252A>T (p.Thr84=) c.462A>T (p.Thr154=) | |
18 | g.31598580G>A | CA402158144 | TTR | c.349G>A (p.Ala117Thr) c.253G>A (p.Ala85Thr) c.463G>A (p.Ala155Thr) | |
18 | g.31598580G>C | CA402158145 | TTR | c.349G>C (p.Ala117Pro) c.253G>C (p.Ala85Pro) c.463G>C (p.Ala155Pro) | |
18 | g.31598580G= | CA2293889327 | TTR | c.349G= (p.Ala117=) c.253G= (p.Ala85=) c.463G= (p.Ala155=) | |
18 | g.31598580G>T | CA256859 | TTR | c.349G>T (p.Ala117Ser) c.253G>T (p.Ala85Ser) c.463G>T (p.Ala155Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31598581C>A | CA402158146 | TTR | c.350C>A (p.Ala117Asp) c.254C>A (p.Ala85Asp) c.464C>A (p.Ala155Asp) | ClinVar gnomAD v4 |
18 | g.31598581C= | CA2293889328 | TTR | c.350C= (p.Ala117=) c.254C= (p.Ala85=) c.464C= (p.Ala155=) | |
18 | g.31598581C>G | CA256841 | TTR | c.350C>G (p.Ala117Gly) c.254C>G (p.Ala85Gly) c.464C>G (p.Ala155Gly) | ClinVar dbSNP |
18 | g.31598581C>T | CA402158147 | TTR | c.350C>T (p.Ala117Val) c.254C>T (p.Ala85Val) c.464C>T (p.Ala155Val) | |
18 | g.31598582C>A | CA503610842 | TTR | c.351C>A (p.Ala117=) c.255C>A (p.Ala85=) c.465C>A (p.Ala155=) | gnomAD v4 |
18 | g.31598582C= | CA2293889329 | TTR | c.351C= (p.Ala117=) c.255C= (p.Ala85=) c.465C= (p.Ala155=) | |
18 | g.31598582C>G | CA503610841 | TTR | c.351C>G (p.Ala117=) c.255C>G (p.Ala85=) c.465C>G (p.Ala155=) | |
18 | g.31598582C>T | CA503610840 | TTR | c.351C>T (p.Ala117=) c.255C>T (p.Ala85=) c.465C>T (p.Ala155=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31598583A>C | CA402158148 | TTR | c.352A>C (p.Asn118His) c.256A>C (p.Asn86His) c.466A>C (p.Asn156His) | |
18 | g.31598583A>G | CA402158149 | TTR | c.352A>G (p.Asn118Asp) c.256A>G (p.Asn86Asp) c.466A>G (p.Asn156Asp) | |
18 | g.31598583A>T | CA402158150 | TTR | c.352A>T (p.Asn118Tyr) c.256A>T (p.Asn86Tyr) c.466A>T (p.Asn156Tyr) | |
18 | g.31598584A>C | CA402158151 | TTR | c.353A>C (p.Asn118Thr) c.257A>C (p.Asn86Thr) c.467A>C (p.Asn156Thr) | |
18 | g.31598584A>G | CA402158152 | TTR | c.353A>G (p.Asn118Ser) c.257A>G (p.Asn86Ser) c.467A>G (p.Asn156Ser) | |
18 | g.31598584A>T | CA402158153 | TTR | c.353A>T (p.Asn118Ile) c.257A>T (p.Asn86Ile) c.467A>T (p.Asn156Ile) | |
18 | g.31598585C>A | CA402158154 | TTR | c.354C>A (p.Asn118Lys) c.258C>A (p.Asn86Lys) c.468C>A (p.Asn156Lys) | |
18 | g.31598585C= | CA2293889330 | TTR | c.354C= (p.Asn118=) c.258C= (p.Asn86=) c.468C= (p.Asn156=) | |
18 | g.31598585C>G | CA402158155 | TTR | c.354C>G (p.Asn118Lys) c.258C>G (p.Asn86Lys) c.468C>G (p.Asn156Lys) | |
18 | g.31598585C>T | CA179464 | TTR | c.354C>T (p.Asn118=) c.258C>T (p.Asn86=) c.468C>T (p.Asn156=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31598586G>A | CA297513 | TTR | c.355G>A (p.Asp119Asn) c.259G>A (p.Asp87Asn) c.469G>A (p.Asp157Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31598586G>C | CA402158156 | TTR | c.355G>C (p.Asp119His) c.259G>C (p.Asp87His) c.469G>C (p.Asp157His) | |
18 | g.31598586G= | CA2293889331 | TTR | c.355G= (p.Asp119=) c.259G= (p.Asp87=) c.469G= (p.Asp157=) | |
18 | g.31598586G>T | CA402158157 | TTR | c.355G>T (p.Asp119Tyr) c.259G>T (p.Asp87Tyr) c.469G>T (p.Asp157Tyr) | |
18 | g.31598587A= | CA2293889332 | TTR | c.356A= (p.Asp119=) c.260A= (p.Asp87=) c.470A= (p.Asp157=) | |
18 | g.31598587A>C | CA8928498 | TTR | c.356A>C (p.Asp119Ala) c.260A>C (p.Asp87Ala) c.470A>C (p.Asp157Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31598587A>G | CA402158158 | TTR | c.356A>G (p.Asp119Gly) c.260A>G (p.Asp87Gly) c.470A>G (p.Asp157Gly) | |
18 | g.31598587A>T | CA402158159 | TTR | c.356A>T (p.Asp119Val) c.260A>T (p.Asp87Val) c.470A>T (p.Asp157Val) | |
18 | g.31598588C>A | CA402158160 | TTR | c.357C>A (p.Asp119Glu) c.261C>A (p.Asp87Glu) c.471C>A (p.Asp157Glu) | |
18 | g.31598588C= | CA2293889333 | TTR | c.357C= (p.Asp119=) c.261C= (p.Asp87=) c.471C= (p.Asp157=) | |
18 | g.31598588C>G | CA402158161 | TTR | c.357C>G (p.Asp119Glu) c.261C>G (p.Asp87Glu) c.471C>G (p.Asp157Glu) | |
18 | g.31598588C>T | CA503610846 | TTR | c.357C>T (p.Asp119=) c.261C>T (p.Asp87=) c.471C>T (p.Asp157=) | dbSNP |
18 | g.31598589T>A | CA402158162 | TTR | c.358T>A (p.Ser120Thr) c.262T>A (p.Ser88Thr) c.472T>A (p.Ser158Thr) | |
18 | g.31598589T>C | CA8928499 | TTR | c.358T>C (p.Ser120Pro) c.262T>C (p.Ser88Pro) c.472T>C (p.Ser158Pro) | ClinVar dbSNP ExAC gnomAD v2 |
18 | g.31598589T>G | CA402158163 | TTR | c.358T>G (p.Ser120Ala) c.262T>G (p.Ser88Ala) c.472T>G (p.Ser158Ala) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31598589T= | CA2293889334 | TTR | c.358T= (p.Ser120=) c.262T= (p.Ser88=) c.472T= (p.Ser158=) | |
18 | g.31598590C>A | CA402158166 | TTR | c.359C>A (p.Ser120Tyr) c.263C>A (p.Ser88Tyr) c.473C>A (p.Ser158Tyr) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31598590C>G | CA402158165 | TTR | c.359C>G (p.Ser120Cys) c.263C>G (p.Ser88Cys) c.473C>G (p.Ser158Cys) | |
18 | g.31598590C>T | CA402158164 | TTR | c.359C>T (p.Ser120Phe) c.263C>T (p.Ser88Phe) c.473C>T (p.Ser158Phe) | |
18 | g.31598591C>A | CA503610849 | TTR | c.360C>A (p.Ser120=) c.264C>A (p.Ser88=) c.474C>A (p.Ser158=) | |
18 | g.31598591C= | CA2293889335 | TTR | c.360C= (p.Ser120=) c.264C= (p.Ser88=) c.474C= (p.Ser158=) | |
18 | g.31598591C>G | CA503610850 | TTR | c.360C>G (p.Ser120=) c.264C>G (p.Ser88=) c.474C>G (p.Ser158=) | |
18 | g.31598591C>T | CA132597 | TTR | c.360C>T (p.Ser120=) c.264C>T (p.Ser88=) c.474C>T (p.Ser158=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31598592G>A | CA8928500 | TTR | c.361G>A (p.Gly121Ser) c.265G>A (p.Gly89Ser) c.475G>A (p.Gly159Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31598592G>C | CA402158167 | TTR | c.361G>C (p.Gly121Arg) c.265G>C (p.Gly89Arg) c.475G>C (p.Gly159Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.31598592G= | CA2293889336 | TTR | c.361G= (p.Gly121=) c.265G= (p.Gly89=) c.475G= (p.Gly159=) | |
18 | g.31598592G>T | CA402158168 | TTR | c.361G>T (p.Gly121Cys) c.265G>T (p.Gly89Cys) c.475G>T (p.Gly159Cys) | dbSNP |
18 | g.31598593G>A | CA8928502 | TTR | c.362G>A (p.Gly121Asp) c.266G>A (p.Gly89Asp) c.476G>A (p.Gly159Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31598593G>C | CA8928501 | TTR | c.362G>C (p.Gly121Ala) c.266G>C (p.Gly89Ala) c.476G>C (p.Gly159Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31598593G= | CA2293889337 | TTR | c.362G= (p.Gly121=) c.266G= (p.Gly89=) c.476G= (p.Gly159=) | |
18 | g.31598593G>T | CA402158169 | TTR | c.362G>T (p.Gly121Val) c.266G>T (p.Gly89Val) c.476G>T (p.Gly159Val) | |
18 | g.31598594C>A | CA503610854 | TTR | c.363C>A (p.Gly121=) c.267C>A (p.Gly89=) c.477C>A (p.Gly159=) | |
18 | g.31598594C= | CA2293889338 | TTR | c.363C= (p.Gly121=) c.267C= (p.Gly89=) c.477C= (p.Gly159=) | |
18 | g.31598594C>G | CA503610855 | TTR | c.363C>G (p.Gly121=) c.267C>G (p.Gly89=) c.477C>G (p.Gly159=) | |
18 | g.31598594C>T | CA503610856 | TTR | c.363C>T (p.Gly121=) c.267C>T (p.Gly89=) c.477C>T (p.Gly159=) | dbSNP |
18 | g.31598598dup | CA2812000724 | TTR | c.367dup (p.Arg123ProfsTer?) c.271dup (p.Arg91ProfsTer?) c.481dup (p.Arg161ProfsTer?) | |
18 | g.31598595C>A | CA402158170 | TTR | c.364C>A (p.Pro122Thr) c.268C>A (p.Pro90Thr) c.478C>A (p.Pro160Thr) | gnomAD v4 |
18 | g.31598595C>G | CA402158171 | TTR | c.364C>G (p.Pro122Ala) c.268C>G (p.Pro90Ala) c.478C>G (p.Pro160Ala) | |
18 | g.31598595C>T | CA402158172 | TTR | c.364C>T (p.Pro122Ser) c.268C>T (p.Pro90Ser) c.478C>T (p.Pro160Ser) | |
18 | g.31598596C>A | CA297741861 | TTR | c.365C>A (p.Pro122His) c.269C>A (p.Pro90His) c.479C>A (p.Pro160His) | |
18 | g.31598596C>G | CA402158173 | TTR | c.365C>G (p.Pro122Arg) c.269C>G (p.Pro90Arg) c.479C>G (p.Pro160Arg) | ClinVar dbSNP gnomAD v4 |
18 | g.31598596C>T | CA402158174 | TTR | c.365C>T (p.Pro122Leu) c.269C>T (p.Pro90Leu) c.479C>T (p.Pro160Leu) | ClinVar |
18 | g.31598597C>A | CA503610859 | TTR | c.366C>A (p.Pro122=) c.270C>A (p.Pro90=) c.480C>A (p.Pro160=) | |
18 | g.31598597C>G | CA503610860 | TTR | c.366C>G (p.Pro122=) c.270C>G (p.Pro90=) c.480C>G (p.Pro160=) | |
18 | g.31598597C>T | CA503610862 | TTR | c.366C>T (p.Pro122=) c.270C>T (p.Pro90=) c.480C>T (p.Pro160=) | |
18 | g.31598598C>A | CA402158175 | TTR | c.367C>A (p.Arg123Ser) c.271C>A (p.Arg91Ser) c.481C>A (p.Arg161Ser) | COSMIC |
18 | g.31598598C= | CA2293889339 | TTR | c.367C= (p.Arg123=) c.271C= (p.Arg91=) c.481C= (p.Arg161=) | |
18 | g.31598598C>G | CA297741863 | TTR | c.367C>G (p.Arg123Gly) c.271C>G (p.Arg91Gly) c.481C>G (p.Arg161Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31598598C>T | CA8928503 | TTR | c.367C>T (p.Arg123Cys) c.271C>T (p.Arg91Cys) c.481C>T (p.Arg161Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31598599G>A | CA297529 | TTR | c.368G>A (p.Arg123His) c.272G>A (p.Arg91His) c.482G>A (p.Arg161His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.31598599G>C | CA402158177 | TTR | c.368G>C (p.Arg123Pro) c.272G>C (p.Arg91Pro) c.482G>C (p.Arg161Pro) | |
18 | g.31598599G= | CA2293889340 | TTR | c.368G= (p.Arg123=) c.272G= (p.Arg91=) c.482G= (p.Arg161=) | |
18 | g.31598599G>T | CA402158176 | TTR | c.368G>T (p.Arg123Leu) c.272G>T (p.Arg91Leu) c.482G>T (p.Arg161Leu) | |
18 | g.31598600C>A | CA503610865 | TTR | c.369C>A (p.Arg123=) c.273C>A (p.Arg91=) c.483C>A (p.Arg161=) | |
18 | g.31598600C= | CA2293889341 | TTR | c.369C= (p.Arg123=) c.273C= (p.Arg91=) c.483C= (p.Arg161=) | |
18 | g.31598600C>G | CA503610866 | TTR | c.369C>G (p.Arg123=) c.273C>G (p.Arg91=) c.483C>G (p.Arg161=) | ClinVar dbSNP |
18 | g.31598600C>T | CA503610868 | TTR | c.369C>T (p.Arg123=) c.273C>T (p.Arg91=) c.483C>T (p.Arg161=) | |
18 | g.31598601C>A | CA402158178 | TTR | c.370C>A (p.Arg124Ser) c.274C>A (p.Arg92Ser) c.484C>A (p.Arg162Ser) | |
18 | g.31598601C= | CA2293889342 | TTR | c.370C= (p.Arg124=) c.274C= (p.Arg92=) c.484C= (p.Arg162=) | |
18 | g.31598601C>G | CA402158179 | TTR | c.370C>G (p.Arg124Gly) c.274C>G (p.Arg92Gly) c.484C>G (p.Arg162Gly) | |
18 | g.31598601C>T | CA8928504 | TTR | c.370C>T (p.Arg124Cys) c.274C>T (p.Arg92Cys) c.484C>T (p.Arg162Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.31598602G>A | CA179467 | TTR | c.371G>A (p.Arg124His) c.275G>A (p.Arg92His) c.485G>A (p.Arg162His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31598602G>C | CA402158180 | TTR | c.371G>C (p.Arg124Pro) c.275G>C (p.Arg92Pro) c.485G>C (p.Arg162Pro) | |
18 | g.31598602G= | CA2293889343 | TTR | c.371G= (p.Arg124=) c.275G= (p.Arg92=) c.485G= (p.Arg162=) | |
18 | g.31598602G>T | CA402158181 | TTR | c.371G>T (p.Arg124Leu) c.275G>T (p.Arg92Leu) c.485G>T (p.Arg162Leu) | gnomAD v4 |
18 | g.31598603C>A | CA503610876 | TTR | c.372C>A (p.Arg124=) c.276C>A (p.Arg92=) c.486C>A (p.Arg162=) | |
18 | g.31598603C= | CA2293889344 | TTR | c.372C= (p.Arg124=) c.276C= (p.Arg92=) c.486C= (p.Arg162=) | |
18 | g.31598603C>G | CA8928505 | TTR | c.372C>G (p.Arg124=) c.276C>G (p.Arg92=) c.486C>G (p.Arg162=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31598603C>T | CA503610878 | TTR | c.372C>T (p.Arg124=) c.276C>T (p.Arg92=) c.486C>T (p.Arg162=) | gnomAD v4 |
18 | g.31598604T>A | CA402158184 | TTR | c.373T>A (p.Tyr125Asn) c.277T>A (p.Tyr93Asn) c.487T>A (p.Tyr163Asn) | |
18 | g.31598604T>C | CA402158182 | TTR | c.373T>C (p.Tyr125His) c.277T>C (p.Tyr93His) c.487T>C (p.Tyr163His) | ClinVar dbSNP COSMIC |
18 | g.31598604T>G | CA402158183 | TTR | c.373T>G (p.Tyr125Asp) c.277T>G (p.Tyr93Asp) c.487T>G (p.Tyr163Asp) | |
18 | g.31598604T= | CA2293889345 | TTR | c.373T= (p.Tyr125=) c.277T= (p.Tyr93=) c.487T= (p.Tyr163=) | |
18 | g.31598605A>C | CA402158185 | TTR | c.374A>C (p.Tyr125Ser) c.278A>C (p.Tyr93Ser) c.488A>C (p.Tyr163Ser) | |
18 | g.31598605A>G | CA402158186 | TTR | c.374A>G (p.Tyr125Cys) c.278A>G (p.Tyr93Cys) c.488A>G (p.Tyr163Cys) | |
18 | g.31598605A>T | CA402158187 | TTR | c.374A>T (p.Tyr125Phe) c.278A>T (p.Tyr93Phe) c.488A>T (p.Tyr163Phe) | |
18 | g.31598606C>A | CA8928506 | TTR | c.375C>A (p.Tyr125Ter) c.279C>A (p.Tyr93Ter) c.489C>A (p.Tyr163Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31598606C= | CA2293889346 | TTR | c.375C= (p.Tyr125=) c.279C= (p.Tyr93=) c.489C= (p.Tyr163=) | |
18 | g.31598606C>G | CA402158188 | TTR | c.375C>G (p.Tyr125Ter) c.279C>G (p.Tyr93Ter) c.489C>G (p.Tyr163Ter) | |
18 | g.31598606C>T | CA16616068 | TTR | c.375C>T (p.Tyr125=) c.279C>T (p.Tyr93=) c.489C>T (p.Tyr163=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31598607A>C | CA402158189 | TTR | c.376A>C (p.Thr126Pro) c.280A>C (p.Thr94Pro) c.490A>C (p.Thr164Pro) c.375+1A>C (n.375+1A>C) | |
18 | g.31598607A>G | CA402158191 | TTR | c.376A>G (p.Thr126Ala) c.280A>G (p.Thr94Ala) c.490A>G (p.Thr164Ala) c.375+1A>G (n.375+1A>G) | |
18 | g.31598607A>T | CA402158190 | TTR | c.376A>T (p.Thr126Ser) c.280A>T (p.Thr94Ser) c.490A>T (p.Thr164Ser) c.375+1A>T (n.375+1A>T) | |
18 | g.31598608C>A | CA402158192 | TTR | c.377C>A (p.Thr126Asn) c.281C>A (p.Thr94Asn) c.491C>A (p.Thr164Asn) c.375+2C>A (n.375+2C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31598608C= | CA2293889347 | TTR | c.377C= (p.Thr126=) c.281C= (p.Thr94=) c.491C= (p.Thr164=) c.375+2C= (n.375+2C=) | |
18 | g.31598608C>G | CA402158193 | TTR | c.377C>G (p.Thr126Ser) c.281C>G (p.Thr94Ser) c.491C>G (p.Thr164Ser) c.375+2C>G (n.375+2C>G) | |
18 | g.31598608C>T | CA402158194 | TTR | c.377C>T (p.Thr126Ile) c.281C>T (p.Thr94Ile) c.491C>T (p.Thr164Ile) c.375+2C>T (n.375+2C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
18 | g.31598609C>A | CA503610887 | TTR | c.378C>A (p.Thr126=) c.282C>A (p.Thr94=) c.492C>A (p.Thr164=) c.375+3C>A (n.375+3C>A) | gnomAD v4 |
18 | g.31598609C>G | CA503610888 | TTR | c.378C>G (p.Thr126=) c.282C>G (p.Thr94=) c.492C>G (p.Thr164=) c.375+3C>G (n.375+3C>G) | |
18 | g.31598609C>T | CA503610889 | TTR | c.378C>T (p.Thr126=) c.282C>T (p.Thr94=) c.492C>T (p.Thr164=) c.375+3C>T (n.375+3C>T) | |
18 | g.31598610A= | CA2293889348 | TTR | c.379A= (p.Ile127=) c.283A= (p.Ile95=) c.493A= (p.Ile165=) c.375+4A= (n.375+4A=) | |
18 | g.31598610A>C | CA402158195 | TTR | c.379A>C (p.Ile127Leu) c.283A>C (p.Ile95Leu) c.493A>C (p.Ile165Leu) c.375+4A>C (n.375+4A>C) | |
18 | g.31598610A>G | CA256843 | TTR | c.379A>G (p.Ile127Val) c.283A>G (p.Ile95Val) c.493A>G (p.Ile165Val) c.375+4A>G (n.375+4A>G) | ClinVar dbSNP |
18 | g.31598610A>T | CA402158196 | TTR | c.379A>T (p.Ile127Phe) c.283A>T (p.Ile95Phe) c.493A>T (p.Ile165Phe) c.375+4A>T (n.375+4A>T) | |
18 | g.31598611T>A | CA402158197 | TTR | c.380T>A (p.Ile127Asn) c.284T>A (p.Ile95Asn) c.494T>A (p.Ile165Asn) c.375+5T>A (n.375+5T>A) | |
18 | g.31598611T>C | CA8928507 | TTR | c.380T>C (p.Ile127Thr) c.284T>C (p.Ile95Thr) c.494T>C (p.Ile165Thr) c.375+5T>C (n.375+5T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31598611T>G | CA402158198 | TTR | c.380T>G (p.Ile127Ser) c.284T>G (p.Ile95Ser) c.494T>G (p.Ile165Ser) c.375+5T>G (n.375+5T>G) | |
18 | g.31598611T= | CA2293889349 | TTR | c.380T= (p.Ile127=) c.284T= (p.Ile95=) c.494T= (p.Ile165=) c.375+5T= (n.375+5T=) | |
18 | g.31598612T>A | CA503610891 | TTR | c.381T>A (p.Ile127=) c.285T>A (p.Ile95=) c.495T>A (p.Ile165=) c.375+6T>A (n.375+6T>A) | |
18 | g.31598612T>C | CA297741913 | TTR | c.381T>C (p.Ile127=) c.285T>C (p.Ile95=) c.495T>C (p.Ile165=) c.375+6T>C (n.375+6T>C) | ClinVar dbSNP |
18 | g.31598612T>G | CA402158199 | TTR | c.381T>G (p.Ile127Met) c.285T>G (p.Ile95Met) c.495T>G (p.Ile165Met) c.375+6T>G (n.375+6T>G) | ClinVar dbSNP |
18 | g.31598612T= | CA2293889350 | TTR | c.381T= (p.Ile127=) c.285T= (p.Ile95=) c.495T= (p.Ile165=) c.375+6T= (n.375+6T=) | |
18 | g.31598613G>A | CA402158200 | TTR | c.382G>A (p.Ala128Thr) c.286G>A (p.Ala96Thr) c.496G>A (p.Ala166Thr) c.375+7G>A (n.375+7G>A) | ClinVar dbSNP |
18 | g.31598613G>C | CA402158202 | TTR | c.382G>C (p.Ala128Pro) c.286G>C (p.Ala96Pro) c.496G>C (p.Ala166Pro) c.375+7G>C (n.375+7G>C) | |
18 | g.31598613G= | CA2293889351 | TTR | c.382G= (p.Ala128=) c.286G= (p.Ala96=) c.496G= (p.Ala166=) c.375+7G= (n.375+7G=) | |
18 | g.31598613G>T | CA402158201 | TTR | c.382G>T (p.Ala128Ser) c.286G>T (p.Ala96Ser) c.496G>T (p.Ala166Ser) c.375+7G>T (n.375+7G>T) | |
18 | g.31598614C>A | CA402158203 | TTR | c.383C>A (p.Ala128Asp) c.287C>A (p.Ala96Asp) c.497C>A (p.Ala166Asp) c.375+8C>A (n.375+8C>A) | |
18 | g.31598614C= | CA2293889352 | TTR | c.383C= (p.Ala128=) c.287C= (p.Ala96=) c.497C= (p.Ala166=) c.375+8C= (n.375+8C=) | |
18 | g.31598614C>G | CA402158204 | TTR | c.383C>G (p.Ala128Gly) c.287C>G (p.Ala96Gly) c.497C>G (p.Ala166Gly) c.375+8C>G (n.375+8C>G) | |
18 | g.31598614C>T | CA402158205 | TTR | c.383C>T (p.Ala128Val) c.287C>T (p.Ala96Val) c.497C>T (p.Ala166Val) c.375+8C>T (n.375+8C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31598615C>A | CA503610896 | TTR | c.384C>A (p.Ala128=) c.288C>A (p.Ala96=) c.498C>A (p.Ala166=) c.375+9C>A (n.375+9C>A) | |
18 | g.31598615C= | CA2293889353 | TTR | c.384C= (p.Ala128=) c.288C= (p.Ala96=) c.498C= (p.Ala166=) c.375+9C= (n.375+9C=) | |
18 | g.31598615C>G | CA503610897 | TTR | c.384C>G (p.Ala128=) c.288C>G (p.Ala96=) c.498C>G (p.Ala166=) c.375+9C>G (n.375+9C>G) | |
18 | g.31598615C>T | CA245099 | TTR | c.384C>T (p.Ala128=) c.288C>T (p.Ala96=) c.498C>T (p.Ala166=) c.375+9C>T (n.375+9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31598616G>A | CA132600 | TTR | c.385G>A (p.Ala129Thr) c.289G>A (p.Ala97Thr) c.499G>A (p.Ala167Thr) c.375+10G>A (n.375+10G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.31598616G>C | CA402158206 | TTR | c.385G>C (p.Ala129Pro) c.289G>C (p.Ala97Pro) c.499G>C (p.Ala167Pro) c.375+10G>C (n.375+10G>C) | |
18 | g.31598616G= | CA2293889354 | TTR | c.385G= (p.Ala129=) c.289G= (p.Ala97=) c.499G= (p.Ala167=) c.375+10G= (n.375+10G=) | |
18 | g.31598616G>T | CA402158207 | TTR | c.385G>T (p.Ala129Ser) c.289G>T (p.Ala97Ser) c.499G>T (p.Ala167Ser) c.375+10G>T (n.375+10G>T) | ClinVar dbSNP |
18 | g.31598617C>A | CA402158208 | TTR | c.386C>A (p.Ala129Asp) c.290C>A (p.Ala97Asp) c.500C>A (p.Ala167Asp) c.375+11C>A (n.375+11C>A) | |
18 | g.31598617C= | CA2293889355 | TTR | c.386C= (p.Ala129=) c.290C= (p.Ala97=) c.500C= (p.Ala167=) c.375+11C= (n.375+11C=) | |
18 | g.31598617C>G | CA402158209 | TTR | c.386C>G (p.Ala129Gly) c.290C>G (p.Ala97Gly) c.500C>G (p.Ala167Gly) c.375+11C>G (n.375+11C>G) | |
18 | g.31598617C>T | CA123109 | TTR | c.386C>T (p.Ala129Val) c.290C>T (p.Ala97Val) c.500C>T (p.Ala167Val) c.375+11C>T (n.375+11C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31598618C>A | CA8928508 | TTR | c.387C>A (p.Ala129=) c.291C>A (p.Ala97=) c.501C>A (p.Ala167=) c.376-13C>A (n.376-13C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31598618C= | CA2293889356 | TTR | c.387C= (p.Ala129=) c.291C= (p.Ala97=) c.501C= (p.Ala167=) c.376-13C= (n.376-13C=) | |
18 | g.31598618C>G | CA503610902 | TTR | c.387C>G (p.Ala129=) c.291C>G (p.Ala97=) c.501C>G (p.Ala167=) c.376-13C>G (n.376-13C>G) | gnomAD v4 |
18 | g.31598618C>T | CA503610901 | TTR | c.387C>T (p.Ala129=) c.291C>T (p.Ala97=) c.501C>T (p.Ala167=) c.376-13C>T (n.376-13C>T) | |
18 | g.31598619C>A | CA402158210 | TTR | c.388C>A (p.Leu130Met) c.292C>A (p.Leu98Met) c.502C>A (p.Leu168Met) c.376-12C>A (n.376-12C>A) | |
18 | g.31598619C>G | CA402158211 | TTR | c.388C>G (p.Leu130Val) c.292C>G (p.Leu98Val) c.502C>G (p.Leu168Val) c.376-12C>G (n.376-12C>G) | |
18 | g.31598619C>T | CA503610903 | TTR | c.388C>T (p.Leu130=) c.292C>T (p.Leu98=) c.502C>T (p.Leu168=) c.376-12C>T (n.376-12C>T) | |
18 | g.31598620T>A | CA402158212 | TTR | c.389T>A (p.Leu130Gln) c.293T>A (p.Leu98Gln) c.503T>A (p.Leu168Gln) c.376-11T>A (n.376-11T>A) | |
18 | g.31598620T>C | CA402158214 | TTR | c.389T>C (p.Leu130Pro) c.293T>C (p.Leu98Pro) c.503T>C (p.Leu168Pro) c.376-11T>C (n.376-11T>C) | |
18 | g.31598620T>G | CA402158213 | TTR | c.389T>G (p.Leu130Arg) c.293T>G (p.Leu98Arg) c.503T>G (p.Leu168Arg) c.376-11T>G (n.376-11T>G) | |
18 | g.31598621G>A | CA503610904 | TTR | c.390G>A (p.Leu130=) c.294G>A (p.Leu98=) c.504G>A (p.Leu168=) c.376-10G>A (n.376-10G>A) | ClinVar gnomAD v4 |
18 | g.31598621G>C | CA503610905 | TTR | c.390G>C (p.Leu130=) c.294G>C (p.Leu98=) c.504G>C (p.Leu168=) c.376-10G>C (n.376-10G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.31598621G= | CA2293889357 | TTR | c.390G= (p.Leu130=) c.294G= (p.Leu98=) c.504G= (p.Leu168=) c.376-10G= (n.376-10G=) | |
18 | g.31598621G>T | CA503610906 | TTR | c.390G>T (p.Leu130=) c.294G>T (p.Leu98=) c.504G>T (p.Leu168=) c.376-10G>T (n.376-10G>T) | gnomAD v4 |
18 | g.31598622C>A | CA256804 | TTR | c.391C>A (p.Leu131Met) c.295C>A (p.Leu99Met) c.505C>A (p.Leu169Met) c.376-9C>A (n.376-9C>A) | ClinVar dbSNP |
18 | g.31598622C= | CA2293889358 | TTR | c.391C= (p.Leu131=) c.295C= (p.Leu99=) c.505C= (p.Leu169=) c.376-9C= (n.376-9C=) | |
18 | g.31598622C>G | CA402158215 | TTR | c.391C>G (p.Leu131Val) c.295C>G (p.Leu99Val) c.505C>G (p.Leu169Val) c.376-9C>G (n.376-9C>G) | |
18 | g.31598622C>T | CA503610908 | TTR | c.391C>T (p.Leu131=) c.295C>T (p.Leu99=) c.505C>T (p.Leu169=) c.376-9C>T (n.376-9C>T) | ClinVar dbSNP |
18 | g.31598623T>A | CA402158216 | TTR | c.392T>A (p.Leu131Gln) c.296T>A (p.Leu99Gln) c.506T>A (p.Leu169Gln) c.376-8T>A (n.376-8T>A) | |
18 | g.31598623T>C | CA402158217 | TTR | c.392T>C (p.Leu131Pro) c.296T>C (p.Leu99Pro) c.506T>C (p.Leu169Pro) c.376-8T>C (n.376-8T>C) | |
18 | g.31598623T>G | CA402158218 | TTR | c.392T>G (p.Leu131Arg) c.296T>G (p.Leu99Arg) c.506T>G (p.Leu169Arg) c.376-8T>G (n.376-8T>G) | |
18 | g.31598624G>A | CA503610910 | TTR | c.393G>A (p.Leu131=) c.297G>A (p.Leu99=) c.507G>A (p.Leu169=) c.376-7G>A (n.376-7G>A) | |
18 | g.31598624G>C | CA503610911 | TTR | c.393G>C (p.Leu131=) c.297G>C (p.Leu99=) c.507G>C (p.Leu169=) c.376-7G>C (n.376-7G>C) | |
18 | g.31598624G>T | CA503610912 | TTR | c.393G>T (p.Leu131=) c.297G>T (p.Leu99=) c.507G>T (p.Leu169=) c.376-7G>T (n.376-7G>T) | |
18 | g.31598625A>C | CA402158219 | TTR | c.394A>C (p.Ser132Arg) c.298A>C (p.Ser100Arg) c.508A>C (p.Ser170Arg) c.376-6A>C (n.376-6A>C) | |
18 | g.31598625A>G | CA402158220 | TTR | c.394A>G (p.Ser132Gly) c.298A>G (p.Ser100Gly) c.508A>G (p.Ser170Gly) c.376-6A>G (n.376-6A>G) | |
18 | g.31598625A>T | CA402158221 | TTR | c.394A>T (p.Ser132Cys) c.298A>T (p.Ser100Cys) c.508A>T (p.Ser170Cys) c.376-6A>T (n.376-6A>T) | |
18 | g.31598626G>A | CA402158222 | TTR | c.395G>A (p.Ser132Asn) c.299G>A (p.Ser100Asn) c.509G>A (p.Ser170Asn) c.376-5G>A (n.376-5G>A) | |
18 | g.31598626G>C | CA402158223 | TTR | c.395G>C (p.Ser132Thr) c.299G>C (p.Ser100Thr) c.509G>C (p.Ser170Thr) c.376-5G>C (n.376-5G>C) | |
18 | g.31598626G>T | CA402158224 | TTR | c.395G>T (p.Ser132Ile) c.299G>T (p.Ser100Ile) c.509G>T (p.Ser170Ile) c.376-5G>T (n.376-5G>T) | gnomAD v4 |
18 | g.31598627C>A | CA402158226 | TTR | c.396C>A (p.Ser132Arg) c.300C>A (p.Ser100Arg) c.510C>A (p.Ser170Arg) c.376-4C>A (n.376-4C>A) | gnomAD v4 |
18 | g.31598627C>G | CA402158225 | TTR | c.396C>G (p.Ser132Arg) c.300C>G (p.Ser100Arg) c.510C>G (p.Ser170Arg) c.376-4C>G (n.376-4C>G) | |
18 | g.31598627C>T | CA503610917 | TTR | c.396C>T (p.Ser132=) c.300C>T (p.Ser100=) c.510C>T (p.Ser170=) c.376-4C>T (n.376-4C>T) | ClinVar dbSNP gnomAD v4 |
18 | g.31598628C>A | CA402158227 | TTR | c.397C>A (p.Pro133Thr) c.301C>A (p.Pro101Thr) c.511C>A (p.Pro171Thr) c.376-3C>A (n.376-3C>A) | |
18 | g.31598628C= | CA2293889359 | TTR | c.397C= (p.Pro133=) c.301C= (p.Pro101=) c.511C= (p.Pro171=) c.376-3C= (n.376-3C=) | |
18 | g.31598628C>G | CA402158228 | TTR | c.397C>G (p.Pro133Ala) c.301C>G (p.Pro101Ala) c.511C>G (p.Pro171Ala) c.376-3C>G (n.376-3C>G) | |
18 | g.31598628C>T | CA297532 | TTR | c.397C>T (p.Pro133Ser) c.301C>T (p.Pro101Ser) c.511C>T (p.Pro171Ser) c.376-3C>T (n.376-3C>T) | ClinVar dbSNP gnomAD v4 |
18 | g.31598629C>A | CA402158229 | TTR | c.398C>A (p.Pro133His) c.302C>A (p.Pro101His) c.512C>A (p.Pro171His) c.376-2C>A (n.376-2C>A) | |
18 | g.31598629C= | CA2293889360 | TTR | c.398C= (p.Pro133=) c.302C= (p.Pro101=) c.512C= (p.Pro171=) c.376-2C= (n.376-2C=) | |
18 | g.31598629C>G | CA402158230 | TTR | c.398C>G (p.Pro133Arg) c.302C>G (p.Pro101Arg) c.512C>G (p.Pro171Arg) c.376-2C>G (n.376-2C>G) | |
18 | g.31598629C>T | CA297741934 | TTR | c.398C>T (p.Pro133Leu) c.302C>T (p.Pro101Leu) c.512C>T (p.Pro171Leu) c.376-2C>T (n.376-2C>T) | dbSNP |
18 | g.31598630C>A | CA402158231 | TTR | c.399C>A (p.Pro133=) c.303C>A (p.Pro101=) c.513C>A (p.Pro171=) c.376-1C>A (n.376-1C>A) | |
18 | g.31598630C>G | CA402158232 | TTR | c.399C>G (p.Pro133=) c.303C>G (p.Pro101=) c.513C>G (p.Pro171=) c.376-1C>G (n.376-1C>G) | |
18 | g.31598630C>T | CA402158233 | TTR | c.399C>T (p.Pro133=) c.303C>T (p.Pro101=) c.513C>T (p.Pro171=) c.376-1C>T (n.376-1C>T) | gnomAD v4 |
18 | g.31598631T>A | CA402158234 | TTR | c.400T>A (p.Tyr134Asn) c.304T>A (p.Tyr102Asn) c.514T>A (p.Tyr172Asn) c.376T>A (p.Tyr126Asn) | |
18 | g.31598631T>C | CA123104 | TTR | c.400T>C (p.Tyr134His) c.304T>C (p.Tyr102His) c.514T>C (p.Tyr172His) c.376T>C (p.Tyr126His) | ClinVar dbSNP |
18 | g.31598631T>G | CA402158235 | TTR | c.400T>G (p.Tyr134Asp) c.304T>G (p.Tyr102Asp) c.514T>G (p.Tyr172Asp) c.376T>G (p.Tyr126Asp) | |
18 | g.31598631T= | CA2293889361 | TTR | c.400T= (p.Tyr134=) c.304T= (p.Tyr102=) c.514T= (p.Tyr172=) c.376T= (p.Tyr126=) | |
18 | g.31598632A= | CA2293889362 | TTR | c.401A= (p.Tyr134=) c.305A= (p.Tyr102=) c.515A= (p.Tyr172=) c.377A= (p.Tyr126=) | |
18 | g.31598632A>C | CA402158236 | TTR | c.401A>C (p.Tyr134Ser) c.305A>C (p.Tyr102Ser) c.515A>C (p.Tyr172Ser) c.377A>C (p.Tyr126Ser) | |
18 | g.31598632A>G | CA256794 | TTR | c.401A>G (p.Tyr134Cys) c.305A>G (p.Tyr102Cys) c.515A>G (p.Tyr172Cys) c.377A>G (p.Tyr126Cys) | ClinVar dbSNP |
18 | g.31598632A>T | CA402158237 | TTR | c.401A>T (p.Tyr134Phe) c.305A>T (p.Tyr102Phe) c.515A>T (p.Tyr172Phe) c.377A>T (p.Tyr126Phe) | |
18 | g.31598633C>A | CA402158239 | TTR | c.402C>A (p.Tyr134Ter) c.306C>A (p.Tyr102Ter) c.516C>A (p.Tyr172Ter) c.378C>A (p.Tyr126Ter) | |
18 | g.31598633C>G | CA402158238 | TTR | c.402C>G (p.Tyr134Ter) c.306C>G (p.Tyr102Ter) c.516C>G (p.Tyr172Ter) c.378C>G (p.Tyr126Ter) | |
18 | g.31598633C>T | CA503610924 | TTR | c.402C>T (p.Tyr134=) c.306C>T (p.Tyr102=) c.516C>T (p.Tyr172=) c.378C>T (p.Tyr126=) | gnomAD v4 |
18 | g.31598634T>A | CA402158240 | TTR | c.403T>A (p.Ser135Thr) c.307T>A (p.Ser103Thr) c.517T>A (p.Ser173Thr) c.379T>A (p.Ser127Thr) | |
18 | g.31598634T>C | CA402158241 | TTR | c.403T>C (p.Ser135Pro) c.307T>C (p.Ser103Pro) c.517T>C (p.Ser173Pro) c.379T>C (p.Ser127Pro) | |
18 | g.31598634T>G | CA402158242 | TTR | c.403T>G (p.Ser135Ala) c.307T>G (p.Ser103Ala) c.517T>G (p.Ser173Ala) c.379T>G (p.Ser127Ala) | |
18 | g.31598635C>A | CA402158243 | TTR | c.404C>A (p.Ser135Tyr) c.308C>A (p.Ser103Tyr) c.518C>A (p.Ser173Tyr) c.380C>A (p.Ser127Tyr) | |
18 | g.31598635C>G | CA402158244 | TTR | c.404C>G (p.Ser135Cys) c.308C>G (p.Ser103Cys) c.518C>G (p.Ser173Cys) c.380C>G (p.Ser127Cys) | |
18 | g.31598635C>T | CA402158245 | TTR | c.404C>T (p.Ser135Phe) c.308C>T (p.Ser103Phe) c.518C>T (p.Ser173Phe) c.380C>T (p.Ser127Phe) | COSMIC |
18 | g.31598636C>A | CA503610930 | TTR | c.405C>A (p.Ser135=) c.309C>A (p.Ser103=) c.519C>A (p.Ser173=) c.381C>A (p.Ser127=) | |
18 | g.31598636C= | CA2293889363 | TTR | c.405C= (p.Ser135=) c.309C= (p.Ser103=) c.519C= (p.Ser173=) c.381C= (p.Ser127=) | |
18 | g.31598636C>G | CA8928509 | TTR | c.405C>G (p.Ser135=) c.309C>G (p.Ser103=) c.519C>G (p.Ser173=) c.381C>G (p.Ser127=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31598636C>T | CA503610931 | TTR | c.405C>T (p.Ser135=) c.309C>T (p.Ser103=) c.519C>T (p.Ser173=) c.381C>T (p.Ser127=) | dbSNP gnomAD v4 COSMIC |
18 | g.31598637T>A | CA402158246 | TTR | c.406T>A (p.Tyr136Asn) c.310T>A (p.Tyr104Asn) c.520T>A (p.Tyr174Asn) c.382T>A (p.Tyr128Asn) | |
18 | g.31598637T>C | CA8928510 | TTR | c.406T>C (p.Tyr136His) c.310T>C (p.Tyr104His) c.520T>C (p.Tyr174His) c.382T>C (p.Tyr128His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.31598637T>G | CA402158247 | TTR | c.406T>G (p.Tyr136Asp) c.310T>G (p.Tyr104Asp) c.520T>G (p.Tyr174Asp) c.382T>G (p.Tyr128Asp) | |
18 | g.31598637T= | CA2293889364 | TTR | c.406T= (p.Tyr136=) c.310T= (p.Tyr104=) c.520T= (p.Tyr174=) c.382T= (p.Tyr128=) | |
18 | g.31598638A= | CA2293889365 | TTR | c.407A= (p.Tyr136=) c.311A= (p.Tyr104=) c.521A= (p.Tyr174=) c.383A= (p.Tyr128=) | |
18 | g.31598638A>C | CA297535 | TTR | c.407A>C (p.Tyr136Ser) c.311A>C (p.Tyr104Ser) c.521A>C (p.Tyr174Ser) c.383A>C (p.Tyr128Ser) | ClinVar dbSNP gnomAD v4 |
18 | g.31598638A>G | CA402158248 | TTR | c.407A>G (p.Tyr136Cys) c.311A>G (p.Tyr104Cys) c.521A>G (p.Tyr174Cys) c.383A>G (p.Tyr128Cys) | COSMIC |
18 | g.31598638A>T | CA402158249 | TTR | c.407A>T (p.Tyr136Phe) c.311A>T (p.Tyr104Phe) c.521A>T (p.Tyr174Phe) c.383A>T (p.Tyr128Phe) | |
18 | g.31598639T>A | CA402158251 | TTR | c.408T>A (p.Tyr136Ter) c.312T>A (p.Tyr104Ter) c.522T>A (p.Tyr174Ter) c.384T>A (p.Tyr128Ter) | |
18 | g.31598639T>C | CA503610933 | TTR | c.408T>C (p.Tyr136=) c.312T>C (p.Tyr104=) c.522T>C (p.Tyr174=) c.384T>C (p.Tyr128=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.31598639T>G | CA402158250 | TTR | c.408T>G (p.Tyr136Ter) c.312T>G (p.Tyr104Ter) c.522T>G (p.Tyr174Ter) c.384T>G (p.Tyr128Ter) | ClinVar |
18 | g.31598639T= | CA2293889366 | TTR | c.408T= (p.Tyr136=) c.312T= (p.Tyr104=) c.522T= (p.Tyr174=) c.384T= (p.Tyr128=) | |
18 | g.31598640T>A | CA8928511 | TTR | c.409T>A (p.Ser137Thr) c.313T>A (p.Ser105Thr) c.523T>A (p.Ser175Thr) c.385T>A (p.Ser129Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31598640T>C | CA402158252 | TTR | c.409T>C (p.Ser137Pro) c.313T>C (p.Ser105Pro) c.523T>C (p.Ser175Pro) c.385T>C (p.Ser129Pro) | |
18 | g.31598640T>G | CA402158253 | TTR | c.409T>G (p.Ser137Ala) c.313T>G (p.Ser105Ala) c.523T>G (p.Ser175Ala) c.385T>G (p.Ser129Ala) | |
18 | g.31598640T= | CA2293889367 | TTR | c.409T= (p.Ser137=) c.313T= (p.Ser105=) c.523T= (p.Ser175=) c.385T= (p.Ser129=) | |
18 | g.31598641C>A | CA402158254 | TTR | c.410C>A (p.Ser137Tyr) c.314C>A (p.Ser105Tyr) c.524C>A (p.Ser175Tyr) c.386C>A (p.Ser129Tyr) | |
18 | g.31598641C>G | CA402158255 | TTR | c.410C>G (p.Ser137Cys) c.314C>G (p.Ser105Cys) c.524C>G (p.Ser175Cys) c.386C>G (p.Ser129Cys) | |
18 | g.31598641C>T | CA402158256 | TTR | c.410C>T (p.Ser137Phe) c.314C>T (p.Ser105Phe) c.524C>T (p.Ser175Phe) c.386C>T (p.Ser129Phe) | |
18 | g.31598642C>A | CA503610935 | TTR | c.411C>A (p.Ser137=) c.315C>A (p.Ser105=) c.525C>A (p.Ser175=) c.387C>A (p.Ser129=) | |
18 | g.31598642C= | CA2293889368 | TTR | c.411C= (p.Ser137=) c.315C= (p.Ser105=) c.525C= (p.Ser175=) c.387C= (p.Ser129=) | |
18 | g.31598642C>G | CA503610936 | TTR | c.411C>G (p.Ser137=) c.315C>G (p.Ser105=) c.525C>G (p.Ser175=) c.387C>G (p.Ser129=) | |
18 | g.31598642C>T | CA8928512 | TTR | c.411C>T (p.Ser137=) c.315C>T (p.Ser105=) c.525C>T (p.Ser175=) c.387C>T (p.Ser129=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31598643A>C | CA402158257 | TTR | c.412A>C (p.Thr138Pro) c.316A>C (p.Thr106Pro) c.526A>C (p.Thr176Pro) c.388A>C (p.Thr130Pro) | |
18 | g.31598643A>G | CA402158258 | TTR | c.412A>G (p.Thr138Ala) c.316A>G (p.Thr106Ala) c.526A>G (p.Thr176Ala) c.388A>G (p.Thr130Ala) | |
18 | g.31598643A>T | CA402158259 | TTR | c.412A>T (p.Thr138Ser) c.316A>T (p.Thr106Ser) c.526A>T (p.Thr176Ser) c.388A>T (p.Thr130Ser) | |
18 | g.31598644C>A | CA297741988 | TTR | c.413C>A (p.Thr138Asn) c.317C>A (p.Thr106Asn) c.527C>A (p.Thr176Asn) c.389C>A (p.Thr130Asn) | dbSNP |
18 | g.31598644C= | CA2293889369 | TTR | c.413C= (p.Thr138=) c.317C= (p.Thr106=) c.527C= (p.Thr176=) c.389C= (p.Thr130=) | |
18 | g.31598644C>G | CA402158260 | TTR | c.413C>G (p.Thr138Ser) c.317C>G (p.Thr106Ser) c.527C>G (p.Thr176Ser) c.389C>G (p.Thr130Ser) | |
18 | g.31598644C>T | CA402158261 | TTR | c.413C>T (p.Thr138Ile) c.317C>T (p.Thr106Ile) c.527C>T (p.Thr176Ile) c.389C>T (p.Thr130Ile) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31598645C>A | CA503610942 | TTR | c.414C>A (p.Thr138=) c.318C>A (p.Thr106=) c.528C>A (p.Thr176=) c.390C>A (p.Thr130=) | |
18 | g.31598645C>G | CA503610943 | TTR | c.414C>G (p.Thr138=) c.318C>G (p.Thr106=) c.528C>G (p.Thr176=) c.390C>G (p.Thr130=) | |
18 | g.31598645C>T | CA503610944 | TTR | c.414C>T (p.Thr138=) c.318C>T (p.Thr106=) c.528C>T (p.Thr176=) c.390C>T (p.Thr130=) | |
18 | g.31598646A>C | CA402158264 | TTR | c.415A>C (p.Thr139Pro) c.319A>C (p.Thr107Pro) c.529A>C (p.Thr177Pro) c.391A>C (p.Thr131Pro) | |
18 | g.31598646A>G | CA402158263 | TTR | c.415A>G (p.Thr139Ala) c.319A>G (p.Thr107Ala) c.529A>G (p.Thr177Ala) c.391A>G (p.Thr131Ala) | |
18 | g.31598646A>T | CA402158262 | TTR | c.415A>T (p.Thr139Ser) c.319A>T (p.Thr107Ser) c.529A>T (p.Thr177Ser) c.391A>T (p.Thr131Ser) | |
18 | g.31598647C>A | CA402158265 | TTR | c.416C>A (p.Thr139Lys) c.320C>A (p.Thr107Lys) c.530C>A (p.Thr177Lys) c.392C>A (p.Thr131Lys) | |
18 | g.31598647C= | CA2293889370 | TTR | c.416C= (p.Thr139=) c.320C= (p.Thr107=) c.530C= (p.Thr177=) c.392C= (p.Thr131=) | |
18 | g.31598647C>G | CA402158266 | TTR | c.416C>G (p.Thr139Arg) c.320C>G (p.Thr107Arg) c.530C>G (p.Thr177Arg) c.392C>G (p.Thr131Arg) | |
18 | g.31598647C>T | CA123101 | TTR | c.416C>T (p.Thr139Met) c.320C>T (p.Thr107Met) c.530C>T (p.Thr177Met) c.392C>T (p.Thr131Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31598648G>A | CA132602 | TTR | c.417G>A (p.Thr139=) c.321G>A (p.Thr107=) c.531G>A (p.Thr177=) c.393G>A (p.Thr131=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.31598648G>C | CA503610949 | TTR | c.417G>C (p.Thr139=) c.321G>C (p.Thr107=) c.531G>C (p.Thr177=) c.393G>C (p.Thr131=) | |
18 | g.31598648G= | CA2293889371 | TTR | c.417G= (p.Thr139=) c.321G= (p.Thr107=) c.531G= (p.Thr177=) c.393G= (p.Thr131=) | |
18 | g.31598648G>T | CA503610947 | TTR | c.417G>T (p.Thr139=) c.321G>T (p.Thr107=) c.531G>T (p.Thr177=) c.393G>T (p.Thr131=) | gnomAD v4 |
18 | g.31598648_31598652delinsCAA | CA2499307109 | TTR | c.417_421delinsCAA (p.Ala140AsnfsTer?) c.321_325delinsCAA (p.Ala108AsnfsTer?) c.531_535delinsCAA (p.Ala178AsnfsTer?) c.393_397delinsCAA (p.Ala132AsnfsTer?) | |
18 | g.31598649G>A | CA402158267 | TTR | c.418G>A (p.Ala140Thr) c.322G>A (p.Ala108Thr) c.532G>A (p.Ala178Thr) c.394G>A (p.Ala132Thr) | |
18 | g.31598649G>C | CA402158268 | TTR | c.418G>C (p.Ala140Pro) c.322G>C (p.Ala108Pro) c.532G>C (p.Ala178Pro) c.394G>C (p.Ala132Pro) | |
18 | g.31598649G= | CA2293889372 | TTR | c.418G= (p.Ala140=) c.322G= (p.Ala108=) c.532G= (p.Ala178=) c.394G= (p.Ala132=) | |
18 | g.31598649G>T | CA10577055 | TTR | c.418G>T (p.Ala140Ser) c.322G>T (p.Ala108Ser) c.532G>T (p.Ala178Ser) c.394G>T (p.Ala132Ser) | ClinVar dbSNP gnomAD v4 |
18 | g.31598650C>A | CA402158269 | TTR | c.419C>A (p.Ala140Asp) c.323C>A (p.Ala108Asp) c.533C>A (p.Ala178Asp) c.395C>A (p.Ala132Asp) | |
18 | g.31598650C>G | CA402158270 | TTR | c.419C>G (p.Ala140Gly) c.323C>G (p.Ala108Gly) c.533C>G (p.Ala178Gly) c.395C>G (p.Ala132Gly) | |
18 | g.31598650C>T | CA402158271 | TTR | c.419C>T (p.Ala140Val) c.323C>T (p.Ala108Val) c.533C>T (p.Ala178Val) c.395C>T (p.Ala132Val) | COSMIC |
18 | g.31598651T>A | CA503610953 | TTR | c.420T>A (p.Ala140=) c.324T>A (p.Ala108=) c.534T>A (p.Ala178=) c.396T>A (p.Ala132=) | |
18 | g.31598651T>C | CA503610954 | TTR | c.420T>C (p.Ala140=) c.324T>C (p.Ala108=) c.534T>C (p.Ala178=) c.396T>C (p.Ala132=) | ClinVar |
18 | g.31598651T>G | CA503610955 | TTR | c.420T>G (p.Ala140=) c.324T>G (p.Ala108=) c.534T>G (p.Ala178=) c.396T>G (p.Ala132=) | |
18 | g.31598651_31598654delinsTGTC | CA2293889373 | TTR | c.420_423delinsTGTC (p.Ala140=) c.324_327delinsTGTC (p.Ala108=) c.534_537delinsTGTC (p.Ala178=) c.396_399delinsTGTC (p.Ala132=) | |
18 | g.31598652G>A | CA402158274 | TTR | c.421G>A (p.Val141Ile) c.325G>A (p.Val109Ile) c.535G>A (p.Val179Ile) c.397G>A (p.Val133Ile) | gnomAD v4 |
18 | g.31598652G>C | CA402158273 | TTR | c.421G>C (p.Val141Leu) c.325G>C (p.Val109Leu) c.535G>C (p.Val179Leu) c.397G>C (p.Val133Leu) | |
18 | g.31598652G>T | CA402158272 | TTR | c.421G>T (p.Val141Phe) c.325G>T (p.Val109Phe) c.535G>T (p.Val179Phe) c.397G>T (p.Val133Phe) | |
18 | g.31598655_31598657del | CA256856 | TTR | c.424_426del (p.Val142del) c.328_330del (p.Val110del) c.538_540del (p.Val180del) c.400_402del (p.Val134del) | ClinVar dbSNP |
18 | g.31598653T>A | CA402158275 | TTR | c.422T>A (p.Val141Asp) c.326T>A (p.Val109Asp) c.536T>A (p.Val179Asp) c.398T>A (p.Val133Asp) | |
18 | g.31598653T>C | CA402158277 | TTR | c.422T>C (p.Val141Ala) c.326T>C (p.Val109Ala) c.536T>C (p.Val179Ala) c.398T>C (p.Val133Ala) | gnomAD v4 |
18 | g.31598653T>G | CA402158276 | TTR | c.422T>G (p.Val141Gly) c.326T>G (p.Val109Gly) c.536T>G (p.Val179Gly) c.398T>G (p.Val133Gly) | |
18 | g.31598654C>A | CA503610961 | TTR | c.423C>A (p.Val141=) c.327C>A (p.Val109=) c.537C>A (p.Val179=) c.399C>A (p.Val133=) | |
18 | g.31598654C= | CA2293889374 | TTR | c.423C= (p.Val141=) c.327C= (p.Val109=) c.537C= (p.Val179=) c.399C= (p.Val133=) | |
18 | g.31598654C>G | CA503610963 | TTR | c.423C>G (p.Val141=) c.327C>G (p.Val109=) c.537C>G (p.Val179=) c.399C>G (p.Val133=) | |
18 | g.31598654C>T | CA8928513 | TTR | c.423C>T (p.Val141=) c.327C>T (p.Val109=) c.537C>T (p.Val179=) c.399C>T (p.Val133=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.31598655G>A | CA214382 | TTR | c.424G>A (p.Val142Ile) c.328G>A (p.Val110Ile) c.538G>A (p.Val180Ile) c.400G>A (p.Val134Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31598655G>C | CA402158279 | TTR | c.424G>C (p.Val142Leu) c.328G>C (p.Val110Leu) c.538G>C (p.Val180Leu) c.400G>C (p.Val134Leu) | |
18 | g.31598655G= | CA2293889375 | TTR | c.424G= (p.Val142=) c.328G= (p.Val110=) c.538G= (p.Val180=) c.400G= (p.Val134=) | |
18 | g.31598655G>T | CA402158278 | TTR | c.424G>T (p.Val142Phe) c.328G>T (p.Val110Phe) c.538G>T (p.Val180Phe) c.400G>T (p.Val134Phe) | |
18 | g.31598656T>A | CA402158280 | TTR | c.425T>A (p.Val142Asp) c.329T>A (p.Val110Asp) c.539T>A (p.Val180Asp) c.401T>A (p.Val134Asp) | |
18 | g.31598656T>C | CA402158281 | TTR | c.425T>C (p.Val142Ala) c.329T>C (p.Val110Ala) c.539T>C (p.Val180Ala) c.401T>C (p.Val134Ala) | ClinVar dbSNP |
18 | g.31598656T>G | CA402158282 | TTR | c.425T>G (p.Val142Gly) c.329T>G (p.Val110Gly) c.539T>G (p.Val180Gly) c.401T>G (p.Val134Gly) | |
18 | g.31598657C>A | CA503610965 | TTR | c.426C>A (p.Val142=) c.330C>A (p.Val110=) c.540C>A (p.Val180=) c.402C>A (p.Val134=) | |
18 | g.31598657C= | CA2293889376 | TTR | c.426C= (p.Val142=) c.330C= (p.Val110=) c.540C= (p.Val180=) c.402C= (p.Val134=) | |
18 | g.31598657C>G | CA503610966 | TTR | c.426C>G (p.Val142=) c.330C>G (p.Val110=) c.540C>G (p.Val180=) c.402C>G (p.Val134=) | |
18 | g.31598657C>T | CA297742017 | TTR | c.426C>T (p.Val142=) c.330C>T (p.Val110=) c.540C>T (p.Val180=) c.402C>T (p.Val134=) | dbSNP |
18 | g.31598658A>C | CA402158283 | TTR | c.427A>C (p.Thr143Pro) c.331A>C (p.Thr111Pro) c.541A>C (p.Thr181Pro) c.403A>C (p.Thr135Pro) | |
18 | g.31598658A>G | CA402158284 | TTR | c.427A>G (p.Thr143Ala) c.331A>G (p.Thr111Ala) c.541A>G (p.Thr181Ala) c.403A>G (p.Thr135Ala) | ClinVar gnomAD v4 |
18 | g.31598658A>T | CA402158285 | TTR | c.427A>T (p.Thr143Ser) c.331A>T (p.Thr111Ser) c.541A>T (p.Thr181Ser) c.403A>T (p.Thr135Ser) | gnomAD v4 |
18 | g.31598658_31598664delinsACCAATC | CA2293889377 | TTR | c.427_433delinsACCAATC (p.Thr143=) c.331_337delinsACCAATC (p.Thr111=) c.541_547delinsACCAATC (p.Thr181=) c.403_409delinsACCAATC (p.Thr135=) | |
18 | g.31598659C>A | CA402158286 | TTR | c.428C>A (p.Thr143Asn) c.332C>A (p.Thr111Asn) c.542C>A (p.Thr181Asn) c.404C>A (p.Thr135Asn) | |
18 | g.31598659C>G | CA402158287 | TTR | c.428C>G (p.Thr143Ser) c.332C>G (p.Thr111Ser) c.542C>G (p.Thr181Ser) c.404C>G (p.Thr135Ser) | |
18 | g.31598659C>T | CA402158288 | TTR | c.428C>T (p.Thr143Ile) c.332C>T (p.Thr111Ile) c.542C>T (p.Thr181Ile) c.404C>T (p.Thr135Ile) | |
18 | g.31598663_31598668del | CA10641397 | TTR | c.432_437del (p.Asn144_Pro145del) c.336_341del (p.Asn112_Pro113del) c.546_551del (p.Asn182_Pro183del) c.408_413del (p.Asn136_Pro137del) | ClinVar dbSNP |
18 | g.31598660C>A | CA503610969 | TTR | c.429C>A (p.Thr143=) c.333C>A (p.Thr111=) c.543C>A (p.Thr181=) c.405C>A (p.Thr135=) | |
18 | g.31598660C>G | CA503610970 | TTR | c.429C>G (p.Thr143=) c.333C>G (p.Thr111=) c.543C>G (p.Thr181=) c.405C>G (p.Thr135=) | |
18 | g.31598660C>T | CA503610971 | TTR | c.429C>T (p.Thr143=) c.333C>T (p.Thr111=) c.543C>T (p.Thr181=) c.405C>T (p.Thr135=) | |
18 | g.31598661A>C | CA402158291 | TTR | c.430A>C (p.Asn144His) c.334A>C (p.Asn112His) c.544A>C (p.Asn182His) c.406A>C (p.Asn136His) | |
18 | g.31598661A>G | CA402158290 | TTR | c.430A>G (p.Asn144Asp) c.334A>G (p.Asn112Asp) c.544A>G (p.Asn182Asp) c.406A>G (p.Asn136Asp) | |
18 | g.31598661A>T | CA402158289 | TTR | c.430A>T (p.Asn144Tyr) c.334A>T (p.Asn112Tyr) c.544A>T (p.Asn182Tyr) c.406A>T (p.Asn136Tyr) | |
18 | g.31598662A= | CA2293889378 | TTR | c.431A= (p.Asn144=) c.335A= (p.Asn112=) c.545A= (p.Asn182=) c.407A= (p.Asn136=) | |
18 | g.31598662A>C | CA402158292 | TTR | c.431A>C (p.Asn144Thr) c.335A>C (p.Asn112Thr) c.545A>C (p.Asn182Thr) c.407A>C (p.Asn136Thr) | |
18 | g.31598662A>G | CA8928514 | TTR | c.431A>G (p.Asn144Ser) c.335A>G (p.Asn112Ser) c.545A>G (p.Asn182Ser) c.407A>G (p.Asn136Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31598662A>T | CA402158293 | TTR | c.431A>T (p.Asn144Ile) c.335A>T (p.Asn112Ile) c.545A>T (p.Asn182Ile) c.407A>T (p.Asn136Ile) | dbSNP |
18 | g.31598663T>A | CA402158294 | TTR | c.432T>A (p.Asn144Lys) c.336T>A (p.Asn112Lys) c.546T>A (p.Asn182Lys) c.408T>A (p.Asn136Lys) | |
18 | g.31598663T>C | CA503610972 | TTR | c.432T>C (p.Asn144=) c.336T>C (p.Asn112=) c.546T>C (p.Asn182=) c.408T>C (p.Asn136=) | |
18 | g.31598663T>G | CA402158295 | TTR | c.432T>G (p.Asn144Lys) c.336T>G (p.Asn112Lys) c.546T>G (p.Asn182Lys) c.408T>G (p.Asn136Lys) | |
18 | g.31598664C>A | CA402158296 | TTR | c.433C>A (p.Pro145Thr) c.337C>A (p.Pro113Thr) c.547C>A (p.Pro183Thr) c.409C>A (p.Pro137Thr) | dbSNP |
18 | g.31598664C= | CA2293889379 | TTR | c.433C= (p.Pro145=) c.337C= (p.Pro113=) c.547C= (p.Pro183=) c.409C= (p.Pro137=) | |
18 | g.31598664C>G | CA402158297 | TTR | c.433C>G (p.Pro145Ala) c.337C>G (p.Pro113Ala) c.547C>G (p.Pro183Ala) c.409C>G (p.Pro137Ala) | |
18 | g.31598664C>T | CA402158298 | TTR | c.433C>T (p.Pro145Ser) c.337C>T (p.Pro113Ser) c.547C>T (p.Pro183Ser) c.409C>T (p.Pro137Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
18 | g.31598665C>A | CA297742019 | TTR | c.434C>A (p.Pro145His) c.338C>A (p.Pro113His) c.548C>A (p.Pro183His) c.410C>A (p.Pro137His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.31598665C= | CA2293889380 | TTR | c.434C= (p.Pro145=) c.338C= (p.Pro113=) c.548C= (p.Pro183=) c.410C= (p.Pro137=) | |
18 | g.31598665C>G | CA402158299 | TTR | c.434C>G (p.Pro145Arg) c.338C>G (p.Pro113Arg) c.548C>G (p.Pro183Arg) c.410C>G (p.Pro137Arg) | |
18 | g.31598665C>T | CA402158300 | TTR | c.434C>T (p.Pro145Leu) c.338C>T (p.Pro113Leu) c.548C>T (p.Pro183Leu) c.410C>T (p.Pro137Leu) | |
18 | g.31598666C>A | CA503610974 | TTR | c.435C>A (p.Pro145=) c.339C>A (p.Pro113=) c.549C>A (p.Pro183=) c.411C>A (p.Pro137=) | |
18 | g.31598666C= | CA2293889381 | TTR | c.435C= (p.Pro145=) c.339C= (p.Pro113=) c.549C= (p.Pro183=) c.411C= (p.Pro137=) | |
18 | g.31598666C>G | CA503610975 | TTR | c.435C>G (p.Pro145=) c.339C>G (p.Pro113=) c.549C>G (p.Pro183=) c.411C>G (p.Pro137=) | |
18 | g.31598666C>T | CA503610976 | TTR | c.435C>T (p.Pro145=) c.339C>T (p.Pro113=) c.549C>T (p.Pro183=) c.411C>T (p.Pro137=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31598667A>C | CA402158302 | TTR | c.436A>C (p.Lys146Gln) c.340A>C (p.Lys114Gln) c.550A>C (p.Lys184Gln) c.412A>C (p.Lys138Gln) | |
18 | g.31598667A>G | CA402158303 | TTR | c.436A>G (p.Lys146Glu) c.340A>G (p.Lys114Glu) c.550A>G (p.Lys184Glu) c.412A>G (p.Lys138Glu) | |
18 | g.31598667A>T | CA402158301 | TTR | c.436A>T (p.Lys146Ter) c.340A>T (p.Lys114Ter) c.550A>T (p.Lys184Ter) c.412A>T (p.Lys138Ter) | |
18 | g.31598668A= | CA2293889382 | TTR | c.437A= (p.Lys146=) c.341A= (p.Lys114=) c.551A= (p.Lys184=) c.413A= (p.Lys138=) | |
18 | g.31598668A>C | CA402158304 | TTR | c.437A>C (p.Lys146Thr) c.341A>C (p.Lys114Thr) c.551A>C (p.Lys184Thr) c.413A>C (p.Lys138Thr) | |
18 | g.31598668A>G | CA297551 | TTR | c.437A>G (p.Lys146Arg) c.341A>G (p.Lys114Arg) c.551A>G (p.Lys184Arg) c.413A>G (p.Lys138Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31598668A>T | CA402158305 | TTR | c.437A>T (p.Lys146Met) c.341A>T (p.Lys114Met) c.551A>T (p.Lys184Met) c.413A>T (p.Lys138Met) | |
18 | g.31598669G>A | CA503610977 | TTR | c.438G>A (p.Lys146=) c.342G>A (p.Lys114=) c.552G>A (p.Lys184=) c.414G>A (p.Lys138=) | ClinVar gnomAD v4 |
18 | g.31598669G>C | CA402158306 | TTR | c.438G>C (p.Lys146Asn) c.342G>C (p.Lys114Asn) c.552G>C (p.Lys184Asn) c.414G>C (p.Lys138Asn) | |
18 | g.31598669G>T | CA402158307 | TTR | c.438G>T (p.Lys146Asn) c.342G>T (p.Lys114Asn) c.552G>T (p.Lys184Asn) c.414G>T (p.Lys138Asn) | |
18 | g.31598670G>A | CA402158308 | TTR | c.439G>A (p.Glu147Lys) c.343G>A (p.Glu115Lys) c.553G>A (p.Glu185Lys) c.415G>A (p.Glu139Lys) | |
18 | g.31598670G>C | CA402158309 | TTR | c.439G>C (p.Glu147Gln) c.343G>C (p.Glu115Gln) c.553G>C (p.Glu185Gln) c.415G>C (p.Glu139Gln) | |
18 | g.31598670G= | CA2293889383 | TTR | c.439G= (p.Glu147=) c.343G= (p.Glu115=) c.553G= (p.Glu185=) c.415G= (p.Glu139=) | |
18 | g.31598670G>T | CA297516 | TTR | c.439G>T (p.Glu147Ter) c.343G>T (p.Glu115Ter) c.553G>T (p.Glu185Ter) c.415G>T (p.Glu139Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31598671A= | CA2293889384 | TTR | c.440A= (p.Glu147=) c.344A= (p.Glu115=) c.554A= (p.Glu185=) c.416A= (p.Glu139=) | |
18 | g.31598671A>C | CA402158310 | TTR | c.440A>C (p.Glu147Ala) c.344A>C (p.Glu115Ala) c.554A>C (p.Glu185Ala) c.416A>C (p.Glu139Ala) | |
18 | g.31598671A>G | CA402158311 | TTR | c.440A>G (p.Glu147Gly) c.344A>G (p.Glu115Gly) c.554A>G (p.Glu185Gly) c.416A>G (p.Glu139Gly) | |
18 | g.31598671A>T | CA402158312 | TTR | c.440A>T (p.Glu147Val) c.344A>T (p.Glu115Val) c.554A>T (p.Glu185Val) c.416A>T (p.Glu139Val) | dbSNP |
18 | g.31598672A= | CA2293889385 | TTR | c.441A= (p.Glu147=) c.345A= (p.Glu115=) c.555A= (p.Glu185=) c.417A= (p.Glu139=) | |
18 | g.31598672A>C | CA402158313 | TTR | c.441A>C (p.Glu147Asp) c.345A>C (p.Glu115Asp) c.555A>C (p.Glu185Asp) c.417A>C (p.Glu139Asp) | |
18 | g.31598672A>G | CA8928515 | TTR | c.441A>G (p.Glu147=) c.345A>G (p.Glu115=) c.555A>G (p.Glu185=) c.417A>G (p.Glu139=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31598672A>T | CA8928516 | TTR | c.441A>T (p.Glu147Asp) c.345A>T (p.Glu115Asp) c.555A>T (p.Glu185Asp) c.417A>T (p.Glu139Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |