UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.23424791_23424885delinsTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTC | CA2123455722 | MYH7 | c.2563_2657delinsGAGTTCACACGCCTCAAAGAGGCGCTAGAGAAGTCCGAGGCTCGCCGCAAGGAGCTGGAGGAGAAGATGGTGTCCCTGCTGCAGGAGAAGAATGA (p.Glu855=) n.2669_2763delinsGAGTTCACACGCCTCAAAGAGGCGCTAGAGAAGTCCGAGGCTCGCCGCAAGGAGCTGGAGGAGAAGATGGTGTCCCTGCTGCAGGAGAAGAATGA | |
| 14 | g.23424793_23424886del | CA1139663388 | MYH7 | c.2563_2656del (p.Glu855ThrfsTer23) n.2669_2762del | ClinVar dbSNP |
| 14 | g.23424878_23424882del | CA2624227983 | MYH7 | c.2566_2570del (p.Phe856ThrfsTer29) n.2672_2676del | gnomAD v4 |
| 14 | g.23424882A= | CA2123456065 | MYH7 | c.2566T= (p.Phe856=) n.2672T= | |
| 14 | g.23424882A>C | CA389048140 | MYH7 | c.2566T>G (p.Phe856Val) n.2672T>G | |
| 14 | g.23424882A>G | CA389048139 | MYH7 | c.2566T>C (p.Phe856Leu) n.2672T>C | ClinVar dbSNP |
| 14 | g.23424882A>T | CA389048138 | MYH7 | c.2566T>A (p.Phe856Ile) n.2672T>A | |
| 14 | g.23424882_23424885delinsACTC | CA2123456063 | MYH7 | c.2563_2566delinsGAGT (p.Glu855=) n.2669_2672delinsGAGT | |
| 14 | g.23424883C>A | CA389048141 | MYH7 | c.2565G>T (p.Glu855Asp) n.2671G>T | |
| 14 | g.23424883C>G | CA389048142 | MYH7 | c.2565G>C (p.Glu855Asp) n.2671G>C | gnomAD v4 |
| 14 | g.23424883C>T | CA485767128 | MYH7 | c.2565G>A (p.Glu855=) n.2671G>A | |
| 14 | g.23424888_23424890del | CA012625 | MYH7 | c.2563_2565del (p.Glu855del) n.2669_2671del | ClinVar dbSNP |
| 14 | g.23424884T>A | CA389048143 | MYH7 | c.2564A>T (p.Glu855Val) n.2670A>T | |
| 14 | g.23424884T>C | CA389048144 | MYH7 | c.2564A>G (p.Glu855Gly) n.2670A>G | |
| 14 | g.23424884T>G | CA389048145 | MYH7 | c.2564A>C (p.Glu855Ala) n.2670A>C | |
| 14 | g.23424884_23424885insTTGAGG | CA2624227995 | MYH7 | c.2563_2564insCCTCAA (p.Glu855delinsAlaSerLys) n.2669_2670insCCTCAA | gnomAD v4 |
| 14 | g.23424885C>A | CA389048146 | MYH7 | c.2563G>T (p.Glu855Ter) n.2669G>T | |
| 14 | g.23424885C>G | CA389048147 | MYH7 | c.2563G>C (p.Glu855Gln) n.2669G>C | |
| 14 | g.23424885C>T | CA389048148 | MYH7 | c.2563G>A (p.Glu855Lys) n.2669G>A | |
| 14 | g.23424886C>A | CA389048149 | MYH7 | c.2562G>T (p.Glu854Asp) n.2668G>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 14 | g.23424886C= | CA2123456076 | MYH7 | c.2562G= (p.Glu854=) n.2668G= | |
| 14 | g.23424886C>G | CA389048150 | MYH7 | c.2562G>C (p.Glu854Asp) n.2668G>C | gnomAD v4 |
| 14 | g.23424886C>T | CA033218 | MYH7 | c.2562G>A (p.Glu854=) n.2668G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23424887T>A | CA389048152 | MYH7 | c.2561A>T (p.Glu854Val) n.2667A>T | |
| 14 | g.23424887T>C | CA389048151 | MYH7 | c.2561A>G (p.Glu854Gly) n.2667A>G | dbSNP |
| 14 | g.23424887T>G | CA033204 | MYH7 | c.2561A>C (p.Glu854Ala) n.2667A>C | dbSNP ExAC |
| 14 | g.23424887T= | CA2123456078 | MYH7 | c.2561A= (p.Glu854=) n.2667A= | |
| 14 | g.23424888C>A | CA389048153 | MYH7 | c.2560G>T (p.Glu854Ter) n.2666G>T | |
| 14 | g.23424888C= | CA2123456081 | MYH7 | c.2560G= (p.Glu854=) n.2666G= | |
| 14 | g.23424888C>G | CA389048155 | MYH7 | c.2560G>C (p.Glu854Gln) n.2666G>C | COSMIC |
| 14 | g.23424888C>T | CA389048154 | MYH7 | c.2560G>A (p.Glu854Lys) n.2666G>A | ClinVar dbSNP |
| 14 | g.23424889C>A | CA389048156 | MYH7 | c.2559G>T (p.Lys853Asn) n.2665G>T | |
| 14 | g.23424889C>G | CA389048157 | MYH7 | c.2559G>C (p.Lys853Asn) n.2665G>C | |
| 14 | g.23424889C>T | CA501235 | MYH7 | c.2559G>A (p.Lys853=) n.2665G>A | COSMIC |
| 14 | g.23424890T>A | CA389048158 | MYH7 | c.2558A>T (p.Lys853Met) n.2664A>T | |
| 14 | g.23424890T>C | CA389048160 | MYH7 | c.2558A>G (p.Lys853Arg) n.2664A>G | |
| 14 | g.23424890T>G | CA389048159 | MYH7 | c.2558A>C (p.Lys853Thr) n.2664A>C | |
| 14 | g.23424891T>A | CA389048161 | MYH7 | c.2557A>T (p.Lys853Ter) n.2663A>T | dbSNP |
| 14 | g.23424891T>C | CA389048162 | MYH7 | c.2557A>G (p.Lys853Glu) n.2663A>G | |
| 14 | g.23424891T>G | CA389048163 | MYH7 | c.2557A>C (p.Lys853Gln) n.2663A>C | |
| 14 | g.23424891T= | CA2123456083 | MYH7 | c.2557A= (p.Lys853=) n.2663A= | |
| 14 | g.23424892C>A | CA389048164 | MYH7 | c.2556G>T (p.Met852Ile) n.2662G>T | |
| 14 | g.23424892C= | CA2123456086 | MYH7 | c.2556G= (p.Met852=) n.2662G= | |
| 14 | g.23424892C>G | CA389048165 | MYH7 | c.2556G>C (p.Met852Ile) n.2662G>C | |
| 14 | g.23424892C>T | CA389048166 | MYH7 | c.2556G>A (p.Met852Ile) n.2662G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23424893A= | CA2123456098 | MYH7 | c.2555T= (p.Met852=) n.2661T= | |
| 14 | g.23424893A>C | CA389048167 | MYH7 | c.2555T>G (p.Met852Arg) n.2661T>G | ClinVar dbSNP |
| 14 | g.23424893A>G | CA012623 | MYH7 | c.2555T>C (p.Met852Thr) n.2661T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23424893A>T | CA012614 | MYH7 | c.2555T>A (p.Met852Lys) n.2661T>A | ClinVar dbSNP |
| 14 | g.23424894T>A | CA389048168 | MYH7 | c.2554A>T (p.Met852Leu) n.2660A>T | ClinVar dbSNP |
| 14 | g.23424894T>C | CA389048169 | MYH7 | c.2554A>G (p.Met852Val) n.2660A>G | ClinVar |
| 14 | g.23424894T>G | CA389048170 | MYH7 | c.2554A>C (p.Met852Leu) n.2660A>C | |
| 14 | g.23424894T= | CA2123456110 | MYH7 | c.2554A= (p.Met852=) n.2660A= | |
| 14 | g.23424894dup | CA613317730 | MYH7 | c.2554dup (p.Met852AsnfsTer?) n.2660dup | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23424895G>A | CA485767151 | MYH7 | c.2553C>T (p.Ser851=) n.2659C>T | |
| 14 | g.23424895G>C | CA485767146 | MYH7 | c.2553C>G (p.Ser851=) n.2659C>G | |
| 14 | g.23424895G= | CA2123456119 | MYH7 | c.2553C= (p.Ser851=) n.2659C= | |
| 14 | g.23424895G>T | CA012605 | MYH7 | c.2553C>A (p.Ser851=) n.2659C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23424896G>A | CA389048171 | MYH7 | c.2552C>T (p.Ser851Phe) n.2658C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23424896G>C | CA389048173 | MYH7 | c.2552C>G (p.Ser851Cys) n.2658C>G | |
| 14 | g.23424896G= | CA2123456128 | MYH7 | c.2552C= (p.Ser851=) n.2658C= | |
| 14 | g.23424896G>T | CA389048172 | MYH7 | c.2552C>A (p.Ser851Tyr) n.2658C>A | |
| 14 | g.23424897A>C | CA389048174 | MYH7 | c.2551T>G (p.Ser851Ala) n.2657T>G | |
| 14 | g.23424897A>G | CA389048175 | MYH7 | c.2551T>C (p.Ser851Pro) n.2657T>C | |
| 14 | g.23424897A>T | CA389048176 | MYH7 | c.2551T>A (p.Ser851Thr) n.2657T>A | ClinVar dbSNP |
| 14 | g.23424898G>A | CA485767153 | MYH7 | c.2550C>T (p.Ala850=) n.2656C>T | ClinVar dbSNP |
| 14 | g.23424898G>C | CA485767155 | MYH7 | c.2550C>G (p.Ala850=) n.2656C>G | |
| 14 | g.23424898G= | CA2123456134 | MYH7 | c.2550C= (p.Ala850=) n.2656C= | |
| 14 | g.23424898G>T | CA485767157 | MYH7 | c.2550C>A (p.Ala850=) n.2656C>A | |
| 14 | g.23424899G>A | CA389048177 | MYH7 | c.2549C>T (p.Ala850Val) n.2655C>T | |
| 14 | g.23424899G>C | CA389048178 | MYH7 | c.2549C>G (p.Ala850Gly) n.2655C>G | ClinVar |
| 14 | g.23424899G= | CA2123456137 | MYH7 | c.2549C= (p.Ala850=) n.2655C= | |
| 14 | g.23424899G>T | CA389048179 | MYH7 | c.2549C>A (p.Ala850Asp) n.2655C>A | dbSNP |
| 14 | g.23424899_23424907del | CA913184863 | MYH7 | c.2541_2549del (p.Lys847_Ala850delinsAsn) n.2647_2655del | |
| 14 | g.23424900C>A | CA389048180 | MYH7 | c.2548G>T (p.Ala850Ser) n.2654G>T | |
| 14 | g.23424900C= | CA2123456145 | MYH7 | c.2548G= (p.Ala850=) n.2654G= | |
| 14 | g.23424900C>G | CA389048181 | MYH7 | c.2548G>C (p.Ala850Pro) n.2654G>C | |
| 14 | g.23424900C>T | CA16609767 | MYH7 | c.2548G>A (p.Ala850Thr) n.2654G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23424901C>A | CA389048184 | MYH7 | c.2547G>T (p.Met849Ile) n.2653G>T | |
| 14 | g.23424901C= | CA2123456152 | MYH7 | c.2547G= (p.Met849=) n.2653G= | |
| 14 | g.23424901C>G | CA389048183 | MYH7 | c.2547G>C (p.Met849Ile) n.2653G>C | |
| 14 | g.23424901C>T | CA389048182 | MYH7 | c.2547G>A (p.Met849Ile) n.2653G>A | dbSNP gnomAD v4 |
| 14 | g.23424902del | CA2624228040 | MYH7 | c.2546del (p.Met849ArgfsTer4) n.2652del | gnomAD v4 |
| 14 | g.23424902A= | CA2123456155 | MYH7 | c.2546T= (p.Met849=) n.2652T= | |
| 14 | g.23424902A>C | CA389048185 | MYH7 | c.2546T>G (p.Met849Arg) n.2652T>G | |
| 14 | g.23424902A>G | CA012599 | MYH7 | c.2546T>C (p.Met849Thr) n.2652T>C | ClinVar dbSNP |
| 14 | g.23424902A>T | CA389048186 | MYH7 | c.2546T>A (p.Met849Lys) n.2652T>A | |
| 14 | g.23424903T>A | CA389048187 | MYH7 | c.2545A>T (p.Met849Leu) n.2651A>T | gnomAD v4 |
| 14 | g.23424903T>C | CA389048188 | MYH7 | c.2545A>G (p.Met849Val) n.2651A>G | |
| 14 | g.23424903T>G | CA389048189 | MYH7 | c.2545A>C (p.Met849Leu) n.2651A>C | |
| 14 | g.23424903_23424906delinsTCTC | CA2123456158 | MYH7 | c.2542_2545delinsGAGA (p.Glu848=) n.2648_2651delinsGAGA | |
| 14 | g.23424904C>A | CA389048190 | MYH7 | c.2544G>T (p.Glu848Asp) n.2650G>T | |
| 14 | g.23424904C= | CA2123456162 | MYH7 | c.2544G= (p.Glu848=) n.2650G= | |
| 14 | g.23424904C>G | CA012594 | MYH7 | c.2544G>C (p.Glu848Asp) n.2650G>C | ClinVar dbSNP COSMIC |
| 14 | g.23424904C>T | CA485767179 | MYH7 | c.2544G>A (p.Glu848=) n.2650G>A | |
| 14 | g.23424906_23424908del | CA279274 | MYH7 | c.2542_2544del (p.Glu848del) n.2648_2650del | ClinVar dbSNP |
| 14 | g.23424905T>A | CA389048191 | MYH7 | c.2543A>T (p.Glu848Val) n.2649A>T | |
| 14 | g.23424905T>C | CA012584 | MYH7 | c.2543A>G (p.Glu848Gly) n.2649A>G | ClinVar dbSNP |
| 14 | g.23424905T>G | CA389048192 | MYH7 | c.2543A>C (p.Glu848Ala) n.2649A>C | |
| 14 | g.23424905T= | CA2123456169 | MYH7 | c.2543A= (p.Glu848=) n.2649A= | |
| 14 | g.23424906C>A | CA389048195 | MYH7 | c.2542G>T (p.Glu848Ter) n.2648G>T | |
| 14 | g.23424906C>G | CA389048194 | MYH7 | c.2542G>C (p.Glu848Gln) n.2648G>C | gnomAD v4 |
| 14 | g.23424906C>T | CA389048193 | MYH7 | c.2542G>A (p.Glu848Lys) n.2648G>A | |
| 14 | g.23424906_23424909delinsCCTT | CA2123456174 | MYH7 | c.2539_2542delinsAAGG (p.Lys847=) n.2645_2648delinsAAGG | |
| 14 | g.23424907C>A | CA389048196 | MYH7 | c.2541G>T (p.Lys847Asn) n.2647G>T | COSMIC |
| 14 | g.23424907C= | CA2123456188 | MYH7 | c.2541G= (p.Lys847=) n.2647G= | |
| 14 | g.23424907C>G | CA389048197 | MYH7 | c.2541G>C (p.Lys847Asn) n.2647G>C | |
| 14 | g.23424907C>T | CA257819473 | MYH7 | c.2541G>A (p.Lys847=) n.2647G>A | dbSNP |
| 14 | g.23424909_23424911del | CA012568 | MYH7 | c.2539_2541del (p.Lys847del) n.2645_2647del | ClinVar dbSNP gnomAD v4 |
| 14 | g.23424908T>A | CA389048198 | MYH7 | c.2540A>T (p.Lys847Met) n.2646A>T | |
| 14 | g.23424908T>C | CA389048199 | MYH7 | c.2540A>G (p.Lys847Arg) n.2646A>G | |
| 14 | g.23424908T>G | CA389048200 | MYH7 | c.2540A>C (p.Lys847Thr) n.2646A>C | ClinVar |
| 14 | g.23424909T>A | CA389048201 | MYH7 | c.2539A>T (p.Lys847Ter) n.2645A>T | |
| 14 | g.23424909T>C | CA012578 | MYH7 | c.2539A>G (p.Lys847Glu) n.2645A>G | ClinVar dbSNP gnomAD v4 |
| 14 | g.23424909T>G | CA389048202 | MYH7 | c.2539A>C (p.Lys847Gln) n.2645A>C | |
| 14 | g.23424909T= | CA2123456194 | MYH7 | c.2539A= (p.Lys847=) n.2645A= | |
| 14 | g.23424914_23424915del | CA645581332 | MYH7 | c.2538_2539del (p.Lys847GlyfsTer?) n.2644_2645del | COSMIC |
| 14 | g.23424910C>A | CA389048203 | MYH7 | c.2538G>T (p.Glu846Asp) n.2644G>T | |
| 14 | g.23424910C>G | CA389048204 | MYH7 | c.2538G>C (p.Glu846Asp) n.2644G>C | |
| 14 | g.23424910C>T | CA485767196 | MYH7 | c.2538G>A (p.Glu846=) n.2644G>A | ClinVar COSMIC |
| 14 | g.23424911T>A | CA389048206 | MYH7 | c.2537A>T (p.Glu846Val) n.2643A>T | |
| 14 | g.23424911T>C | CA501236 | MYH7 | c.2537A>G (p.Glu846Gly) n.2643A>G | ClinVar dbSNP |
| 14 | g.23424911T>G | CA389048205 | MYH7 | c.2537A>C (p.Glu846Ala) n.2643A>C | |
| 14 | g.23424911T= | CA2123456203 | MYH7 | c.2537A= (p.Glu846=) n.2643A= | |
| 14 | g.23424912C>A | CA389048207 | MYH7 | c.2536G>T (p.Glu846Ter) n.2642G>T | |
| 14 | g.23424912C= | CA2123456208 | MYH7 | c.2536G= (p.Glu846=) n.2642G= | |
| 14 | g.23424912C>G | CA012562 | MYH7 | c.2536G>C (p.Glu846Gln) n.2642G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23424912C>T | CA389048208 | MYH7 | c.2536G>A (p.Glu846Lys) n.2642G>A | ClinVar dbSNP |
| 14 | g.23424913T>A | CA389048209 | MYH7 | c.2535A>T (p.Arg845Ser) n.2641A>T | |
| 14 | g.23424913T>C | CA485767204 | MYH7 | c.2535A>G (p.Arg845=) n.2641A>G | |
| 14 | g.23424913T>G | CA389048210 | MYH7 | c.2535A>C (p.Arg845Ser) n.2641A>C | |
| 14 | g.23424916_23424919del | CA2580087917 | MYH7 | c.2532_2535del (p.Glu846ArgfsTer6) n.2638_2641del | ClinVar |
| 14 | g.23424914C>A | CA389048211 | MYH7 | c.2534G>T (p.Arg845Ile) n.2640G>T | |
| 14 | g.23424914C= | CA2123456216 | MYH7 | c.2534G= (p.Arg845=) n.2640G= | |
| 14 | g.23424914C>G | CA389048212 | MYH7 | c.2534G>C (p.Arg845Thr) n.2640G>C | |
| 14 | g.23424914C>T | CA389048213 | MYH7 | c.2534G>A (p.Arg845Lys) n.2640G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23424915T>A | CA389048214 | MYH7 | c.2533A>T (p.Arg845Ter) n.2639A>T | |
| 14 | g.23424915T>C | CA389048215 | MYH7 | c.2533A>G (p.Arg845Gly) n.2639A>G | gnomAD v4 |
| 14 | g.23424915T>G | CA485767212 | MYH7 | c.2533A>C (p.Arg845=) n.2639A>C | |
| 14 | g.23424916T>A | CA389048216 | MYH7 | c.2532A>T (p.Glu844Asp) n.2638A>T | |
| 14 | g.23424916T>C | CA485767217 | MYH7 | c.2532A>G (p.Glu844=) n.2638A>G | |
| 14 | g.23424916T>G | CA389048217 | MYH7 | c.2532A>C (p.Glu844Asp) n.2638A>C | |
| 14 | g.23424917T>A | CA389048218 | MYH7 | c.2531A>T (p.Glu844Val) n.2637A>T | |
| 14 | g.23424917T>C | CA389048219 | MYH7 | c.2531A>G (p.Glu844Gly) n.2637A>G | |
| 14 | g.23424917T>G | CA389048220 | MYH7 | c.2531A>C (p.Glu844Ala) n.2637A>C | |
| 14 | g.23424918C>A | CA389048223 | MYH7 | c.2530G>T (p.Glu844Ter) n.2636G>T | |
| 14 | g.23424918C>G | CA389048221 | MYH7 | c.2530G>C (p.Glu844Gln) n.2636G>C | |
| 14 | g.23424918C>T | CA389048222 | MYH7 | c.2530G>A (p.Glu844Lys) n.2636G>A | |
| 14 | g.23424919T>A | CA485767223 | MYH7 | c.2529A>T (p.Ala843=) n.2635A>T | |
| 14 | g.23424919T>C | CA257819479 | MYH7 | c.2529A>G (p.Ala843=) n.2635A>G | dbSNP gnomAD v4 |
| 14 | g.23424919T>G | CA485767225 | MYH7 | c.2529A>C (p.Ala843=) n.2635A>C | |
| 14 | g.23424919T= | CA2123456221 | MYH7 | c.2529A= (p.Ala843=) n.2635A= | |
| 14 | g.23424920G>A | CA389048224 | MYH7 | c.2528C>T (p.Ala843Val) n.2634C>T | |
| 14 | g.23424920G>C | CA389048225 | MYH7 | c.2528C>G (p.Ala843Gly) n.2634C>G | |
| 14 | g.23424920G>T | CA389048226 | MYH7 | c.2528C>A (p.Ala843Glu) n.2634C>A | gnomAD v4 |
| 14 | g.23424921C>A | CA389048227 | MYH7 | c.2527G>T (p.Ala843Ser) n.2633G>T | |
| 14 | g.23424921C= | CA2123456229 | MYH7 | c.2527G= (p.Ala843=) n.2633G= | |
| 14 | g.23424921C>G | CA389048228 | MYH7 | c.2527G>C (p.Ala843Pro) n.2633G>C | |
| 14 | g.23424921C>T | CA012554 | MYH7 | c.2527G>A (p.Ala843Thr) n.2633G>A | ClinVar dbSNP |
| 14 | g.23424922A= | CA2123456238 | MYH7 | c.2526T= (p.Ser842=) n.2632T= | |
| 14 | g.23424922A>C | CA389048229 | MYH7 | c.2526T>G (p.Ser842Arg) n.2632T>G | |
| 14 | g.23424922A>G | CA012544 | MYH7 | c.2526T>C (p.Ser842=) n.2632T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23424922A>T | CA389048230 | MYH7 | c.2526T>A (p.Ser842Arg) n.2632T>A | |
| 14 | g.23424923C>A | CA389048232 | MYH7 | c.2525G>T (p.Ser842Ile) n.2631G>T | |
| 14 | g.23424923C= | CA2123456251 | MYH7 | c.2525G= (p.Ser842=) n.2631G= | |
| 14 | g.23424923C>G | CA389048231 | MYH7 | c.2525G>C (p.Ser842Thr) n.2631G>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.23424923C>T | CA012535 | MYH7 | c.2525G>A (p.Ser842Asn) n.2631G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23424924T>A | CA389048233 | MYH7 | c.2524A>T (p.Ser842Cys) n.2630A>T | |
| 14 | g.23424924T>C | CA279325 | MYH7 | c.2524A>G (p.Ser842Gly) n.2630A>G | ClinVar dbSNP |
| 14 | g.23424924T>G | CA389048234 | MYH7 | c.2524A>C (p.Ser842Arg) n.2630A>C | |
| 14 | g.23424924T= | CA2123456263 | MYH7 | c.2524A= (p.Ser842=) n.2630A= | |
| 14 | g.23424925C>A | CA389048235 | MYH7 | c.2523G>T (p.Lys841Asn) n.2629G>T | |
| 14 | g.23424925C= | CA2123456277 | MYH7 | c.2523G= (p.Lys841=) n.2629G= | |
| 14 | g.23424925C>G | CA389048236 | MYH7 | c.2523G>C (p.Lys841Asn) n.2629G>C | ClinVar |
| 14 | g.23424925C>T | CA485766745 | MYH7 | c.2523G>A (p.Lys841=) n.2629G>A | ClinVar dbSNP |
| 14 | g.23424926T>A | CA389048237 | MYH7 | c.2522A>T (p.Lys841Met) n.2628A>T | |
| 14 | g.23424926T>C | CA389048238 | MYH7 | c.2522A>G (p.Lys841Arg) n.2628A>G | |
| 14 | g.23424926T>G | CA389048239 | MYH7 | c.2522A>C (p.Lys841Thr) n.2628A>C | |
| 14 | g.23424927T>A | CA389048240 | MYH7 | c.2521A>T (p.Lys841Ter) n.2627A>T | |
| 14 | g.23424927T>C | CA389048241 | MYH7 | c.2521A>G (p.Lys841Glu) n.2627A>G | |
| 14 | g.23424927T>G | CA389048242 | MYH7 | c.2521A>C (p.Lys841Gln) n.2627A>C | |
| 14 | g.23424928C>A | CA485766748 | MYH7 | c.2520G>T (p.Leu840=) n.2626G>T | |
| 14 | g.23424928C= | CA2123456284 | MYH7 | c.2520G= (p.Leu840=) n.2626G= | |
| 14 | g.23424928C>G | CA485766749 | MYH7 | c.2520G>C (p.Leu840=) n.2626G>C | |
| 14 | g.23424928C>T | CA485766750 | MYH7 | c.2520G>A (p.Leu840=) n.2626G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23424929A= | CA2123456291 | MYH7 | c.2519T= (p.Leu840=) n.2625T= | |
| 14 | g.23424929A>C | CA389048243 | MYH7 | c.2519T>G (p.Leu840Arg) n.2625T>G | |
| 14 | g.23424929A>G | CA389048244 | MYH7 | c.2519T>C (p.Leu840Pro) n.2625T>C | ClinVar dbSNP gnomAD v2 |
| 14 | g.23424929A>T | CA389048245 | MYH7 | c.2519T>A (p.Leu840Gln) n.2625T>A | |
| 14 | g.23424930G>A | CA485766752 | MYH7 | c.2518C>T (p.Leu840=) n.2624C>T | |
| 14 | g.23424930G>C | CA389048246 | MYH7 | c.2518C>G (p.Leu840Val) n.2624C>G | |
| 14 | g.23424930G= | CA2123456298 | MYH7 | c.2518C= (p.Leu840=) n.2624C= | |
| 14 | g.23424930G>T | CA012529 | MYH7 | c.2518C>A (p.Leu840Met) n.2624C>A | ClinVar dbSNP |
| 14 | g.23424931C>A | CA485766754 | MYH7 | c.2517G>T (p.Leu839=) n.2623G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23424931C= | CA2123456306 | MYH7 | c.2517G= (p.Leu839=) n.2623G= | |
| 14 | g.23424931C>G | CA485766753 | MYH7 | c.2517G>C (p.Leu839=) n.2623G>C | |
| 14 | g.23424931C>T | CA257819491 | MYH7 | c.2517G>A (p.Leu839=) n.2623G>A | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23424932A>C | CA389048247 | MYH7 | c.2516T>G (p.Leu839Arg) n.2622T>G | |
| 14 | g.23424932A>G | CA389048248 | MYH7 | c.2516T>C (p.Leu839Pro) n.2622T>C | |
| 14 | g.23424932A>T | CA389048249 | MYH7 | c.2516T>A (p.Leu839Gln) n.2622T>A | |
| 14 | g.23424933G>A | CA485766755 | MYH7 | c.2515C>T (p.Leu839=) n.2621C>T | |
| 14 | g.23424933G>C | CA389048250 | MYH7 | c.2515C>G (p.Leu839Val) n.2621C>G | |
| 14 | g.23424933G>T | CA389048251 | MYH7 | c.2515C>A (p.Leu839Met) n.2621C>A | |
| 14 | g.23424934C>A | CA485766756 | MYH7 | c.2514G>T (p.Pro838=) n.2620G>T | dbSNP |
| 14 | g.23424934C= | CA2123456310 | MYH7 | c.2514G= (p.Pro838=) n.2620G= | |
| 14 | g.23424934C>G | CA485766757 | MYH7 | c.2514G>C (p.Pro838=) n.2620G>C | |
| 14 | g.23424934C>T | CA012524 | MYH7 | c.2514G>A (p.Pro838=) n.2620G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23424935G>A | CA012515 | MYH7 | c.2513C>T (p.Pro838Leu) n.2619C>T | ClinVar dbSNP COSMIC |
| 14 | g.23424935G>C | CA389048252 | MYH7 | c.2513C>G (p.Pro838Arg) n.2619C>G | |
| 14 | g.23424935G= | CA2123456325 | MYH7 | c.2513C= (p.Pro838=) n.2619C= | |
| 14 | g.23424935G>T | CA012505 | MYH7 | c.2513C>A (p.Pro838Gln) n.2619C>A | ClinVar dbSNP |
| 14 | g.23424936G>A | CA389048253 | MYH7 | c.2512C>T (p.Pro838Ser) n.2618C>T | COSMIC |
| 14 | g.23424936G>C | CA389048254 | MYH7 | c.2512C>G (p.Pro838Ala) n.2618C>G | |
| 14 | g.23424936G>T | CA389048255 | MYH7 | c.2512C>A (p.Pro838Thr) n.2618C>A | |
| 14 | g.23424937C>A | CA389048257 | MYH7 | c.2511G>T (p.Lys837Asn) n.2617G>T | |
| 14 | g.23424937C>G | CA389048256 | MYH7 | c.2511G>C (p.Lys837Asn) n.2617G>C | |
| 14 | g.23424937C>T | CA485766758 | MYH7 | c.2511G>A (p.Lys837=) n.2617G>A | gnomAD v4 |
| 14 | g.23424938T>A | CA16614488 | MYH7 | c.2510A>T (p.Lys837Met) n.2616A>T | ClinVar dbSNP |
| 14 | g.23424938T>C | CA389048259 | MYH7 | c.2510A>G (p.Lys837Arg) n.2616A>G | ClinVar dbSNP |
| 14 | g.23424938T>G | CA389048258 | MYH7 | c.2510A>C (p.Lys837Thr) n.2616A>C | |
| 14 | g.23424938T= | CA2123456333 | MYH7 | c.2510A= (p.Lys837=) n.2616A= | |
| 14 | g.23424939T>A | CA389048260 | MYH7 | c.2509A>T (p.Lys837Ter) n.2615A>T | |
| 14 | g.23424939T>C | CA389048261 | MYH7 | c.2509A>G (p.Lys837Glu) n.2615A>G | |
| 14 | g.23424939T>G | CA389048262 | MYH7 | c.2509A>C (p.Lys837Gln) n.2615A>C | |
| 14 | g.23424940G>A | CA033119 | MYH7 | c.2508C>T (p.Ile836=) n.2614C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.23424940G>C | CA10581173 | MYH7 | c.2508C>G (p.Ile836Met) n.2614C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23424940G= | CA2123456342 | MYH7 | c.2508C= (p.Ile836=) n.2614C= | |
| 14 | g.23424940G>T | CA485766759 | MYH7 | c.2508C>A (p.Ile836=) n.2614C>A | |
| 14 | g.23424941A>C | CA389048263 | MYH7 | c.2507T>G (p.Ile836Ser) n.2613T>G | |
| 14 | g.23424941A>G | CA389048264 | MYH7 | c.2507T>C (p.Ile836Thr) n.2613T>C | |
| 14 | g.23424941A>T | CA389048265 | MYH7 | c.2507T>A (p.Ile836Asn) n.2613T>A | |
| 14 | g.23424942T>A | CA389048266 | MYH7 | c.2506A>T (p.Ile836Phe) n.2612A>T | gnomAD v4 |
| 14 | g.23424942T>C | CA389048267 | MYH7 | c.2506A>G (p.Ile836Val) n.2612A>G | |
| 14 | g.23424942T>G | CA389048268 | MYH7 | c.2506A>C (p.Ile836Leu) n.2612A>C | |
| 14 | g.23424943C>A | CA389048269 | MYH7 | c.2505G>T (p.Lys835Asn) n.2611G>T | |
| 14 | g.23424943C>G | CA389048270 | MYH7 | c.2505G>C (p.Lys835Asn) n.2611G>C | |
| 14 | g.23424943C>T | CA485766760 | MYH7 | c.2505G>A (p.Lys835=) n.2611G>A | |
| 14 | g.23424944T>A | CA10576957 | MYH7 | c.2504A>T (p.Lys835Met) n.2610A>T | ClinVar dbSNP |
| 14 | g.23424944T>C | CA389048272 | MYH7 | c.2504A>G (p.Lys835Arg) n.2610A>G | ClinVar dbSNP |
| 14 | g.23424944T>G | CA389048271 | MYH7 | c.2504A>C (p.Lys835Thr) n.2610A>C | ClinVar dbSNP |
| 14 | g.23424944T= | CA2123456353 | MYH7 | c.2504A= (p.Lys835=) n.2610A= | |
| 14 | g.23424945T>A | CA389048273 | MYH7 | c.2503A>T (p.Lys835Ter) n.2609A>T | |
| 14 | g.23424945T>C | CA389048274 | MYH7 | c.2503A>G (p.Lys835Glu) n.2609A>G | |
| 14 | g.23424945T>G | CA389048275 | MYH7 | c.2503A>C (p.Lys835Gln) n.2609A>C | |
| 14 | g.23424946G>A | CA485766761 | MYH7 | c.2502C>T (p.Phe834=) n.2608C>T | ClinVar COSMIC |
| 14 | g.23424946G>C | CA012501 | MYH7 | c.2502C>G (p.Phe834Leu) n.2608C>G | ClinVar dbSNP |
| 14 | g.23424946G= | CA2123456363 | MYH7 | c.2502C= (p.Phe834=) n.2608C= | |
| 14 | g.23424946G>T | CA389048276 | MYH7 | c.2502C>A (p.Phe834Leu) n.2608C>A | |
| 14 | g.23424947A= | CA2123456366 | MYH7 | c.2501T= (p.Phe834=) n.2607T= | |
| 14 | g.23424947A>C | CA389048277 | MYH7 | c.2501T>G (p.Phe834Cys) n.2607T>G | |
| 14 | g.23424947A>G | CA389048278 | MYH7 | c.2501T>C (p.Phe834Ser) n.2607T>C | |
| 14 | g.23424947A>T | CA389048279 | MYH7 | c.2501T>A (p.Phe834Tyr) n.2607T>A | dbSNP |
| 14 | g.23424948A>C | CA389048280 | MYH7 | c.2500T>G (p.Phe834Val) n.2606T>G | |
| 14 | g.23424948A>G | CA389048281 | MYH7 | c.2500T>C (p.Phe834Leu) n.2606T>C | ClinVar |
| 14 | g.23424948A>T | CA389048282 | MYH7 | c.2500T>A (p.Phe834Ile) n.2606T>A | |
| 14 | g.23424949G>A | CA012494 | MYH7 | c.2499C>T (p.Tyr833=) n.2605C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23424949G>C | CA389048284 | MYH7 | c.2499C>G (p.Tyr833Ter) n.2605C>G | |
| 14 | g.23424949G= | CA2123456374 | MYH7 | c.2499C= (p.Tyr833=) n.2605C= | |
| 14 | g.23424949G>T | CA389048283 | MYH7 | c.2499C>A (p.Tyr833Ter) n.2605C>A | ClinVar dbSNP |
| 14 | g.23424950T>A | CA389048286 | MYH7 | c.2498A>T (p.Tyr833Phe) n.2604A>T | |
| 14 | g.23424950T>C | CA012487 | MYH7 | c.2498A>G (p.Tyr833Cys) n.2604A>G | ClinVar dbSNP |
| 14 | g.23424950T>G | CA389048285 | MYH7 | c.2498A>C (p.Tyr833Ser) n.2604A>C | |
| 14 | g.23424950T= | CA2123456382 | MYH7 | c.2498A= (p.Tyr833=) n.2604A= | |
| 14 | g.23424951A= | CA2123456395 | MYH7 | c.2497T= (p.Tyr833=) n.2603T= | |
| 14 | g.23424951A>C | CA389048287 | MYH7 | c.2497T>G (p.Tyr833Asp) n.2603T>G | |
| 14 | g.23424951A>G | CA012477 | MYH7 | c.2497T>C (p.Tyr833His) n.2603T>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.23424951A>T | CA389048288 | MYH7 | c.2497T>A (p.Tyr833Asn) n.2603T>A | |
| 14 | g.23424952G>A | CA012469 | MYH7 | c.2496C>T (p.Leu832=) n.2602C>T | ClinVar dbSNP gnomAD v2 |
| 14 | g.23424952G>C | CA485766763 | MYH7 | c.2496C>G (p.Leu832=) n.2602C>G | gnomAD v4 |
| 14 | g.23424952G= | CA2123456408 | MYH7 | c.2496C= (p.Leu832=) n.2602C= | |
| 14 | g.23424952G>T | CA485766762 | MYH7 | c.2496C>A (p.Leu832=) n.2602C>A | |
| 14 | g.23424953A= | CA2123456419 | MYH7 | c.2495T= (p.Leu832=) n.2601T= | |
| 14 | g.23424953A>C | CA389048290 | MYH7 | c.2495T>G (p.Leu832Arg) n.2601T>G | |
| 14 | g.23424953A>G | CA012461 | MYH7 | c.2495T>C (p.Leu832Pro) n.2601T>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.23424953A>T | CA389048289 | MYH7 | c.2495T>A (p.Leu832His) n.2601T>A | ClinVar dbSNP |
| 14 | g.23424954G>A | CA10583170 | MYH7 | c.2494C>T (p.Leu832Phe) n.2600C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23424954G>C | CA389048291 | MYH7 | c.2494C>G (p.Leu832Val) n.2600C>G | gnomAD v4 |
| 14 | g.23424954G= | CA2123456430 | MYH7 | c.2494C= (p.Leu832=) n.2600C= | |
| 14 | g.23424954G>T | CA389048292 | MYH7 | c.2494C>A (p.Leu832Ile) n.2600C>A | |
| 14 | g.23424955C>A | CA389048293 | MYH7 | c.2493G>T (p.Lys831Asn) n.2599G>T | |
| 14 | g.23424955C>G | CA389048294 | MYH7 | c.2493G>C (p.Lys831Asn) n.2599G>C | |
| 14 | g.23424955C>T | CA485766764 | MYH7 | c.2493G>A (p.Lys831=) n.2599G>A | |
| 14 | g.23424956T>A | CA389048295 | MYH7 | c.2492A>T (p.Lys831Met) n.2598A>T | |
| 14 | g.23424956T>C | CA389048297 | MYH7 | c.2492A>G (p.Lys831Arg) n.2598A>G | |
| 14 | g.23424956T>G | CA389048296 | MYH7 | c.2492A>C (p.Lys831Thr) n.2598A>C | |
| 14 | g.23424957T>A | CA389048298 | MYH7 | c.2491A>T (p.Lys831Ter) n.2597A>T | |
| 14 | g.23424957T>C | CA389048299 | MYH7 | c.2491A>G (p.Lys831Glu) n.2597A>G | ClinVar |
| 14 | g.23424957T>G | CA389048300 | MYH7 | c.2491A>C (p.Lys831Gln) n.2597A>C | |
| 14 | g.23424958C>A | CA389048301 | MYH7 | c.2490G>T (p.Met830Ile) n.2596G>T | |
| 14 | g.23424958C>G | CA389048302 | MYH7 | c.2490G>C (p.Met830Ile) n.2596G>C | gnomAD v4 |
| 14 | g.23424958C>T | CA389048303 | MYH7 | c.2490G>A (p.Met830Ile) n.2596G>A | |
| 14 | g.23424959A>C | CA389048304 | MYH7 | c.2489T>G (p.Met830Arg) n.2595T>G | |
| 14 | g.23424959A>G | CA389048305 | MYH7 | c.2489T>C (p.Met830Thr) n.2595T>C | |
| 14 | g.23424959A>T | CA389048306 | MYH7 | c.2489T>A (p.Met830Lys) n.2595T>A | |
| 14 | g.23424960T>A | CA389048307 | MYH7 | c.2488A>T (p.Met830Leu) n.2594A>T | |
| 14 | g.23424960T>C | CA389048308 | MYH7 | c.2488A>G (p.Met830Val) n.2594A>G | |
| 14 | g.23424960T>G | CA389048309 | MYH7 | c.2488A>C (p.Met830Leu) n.2594A>C | |
| 14 | g.23424961C>A | CA389048311 | MYH7 | c.2487G>T (p.Trp829Cys) n.2593G>T | COSMIC |
| 14 | g.23424961C>G | CA389048312 | MYH7 | c.2487G>C (p.Trp829Cys) n.2593G>C | |
| 14 | g.23424961C>T | CA389048310 | MYH7 | c.2487G>A (p.Trp829Ter) n.2593G>A | gnomAD v4 |
| 14 | g.23424962C>A | CA389048313 | MYH7 | c.2486G>T (p.Trp829Leu) n.2592G>T | |
| 14 | g.23424962C>G | CA389048315 | MYH7 | c.2486G>C (p.Trp829Ser) n.2592G>C | |
| 14 | g.23424962C>T | CA389048314 | MYH7 | c.2486G>A (p.Trp829Ter) n.2592G>A | |
| 14 | g.23424963A>C | CA389048316 | MYH7 | c.2485T>G (p.Trp829Gly) n.2591T>G | |
| 14 | g.23424963A>G | CA389048317 | MYH7 | c.2485T>C (p.Trp829Arg) n.2591T>C | |
| 14 | g.23424963A>T | CA389048318 | MYH7 | c.2485T>A (p.Trp829Arg) n.2591T>A | |
| 14 | g.23424964G>A | CA485766765 | MYH7 | c.2484C>T (p.Pro828=) n.2590C>T | |
| 14 | g.23424964G>C | CA485766767 | MYH7 | c.2484C>G (p.Pro828=) n.2590C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23424964G= | CA2123456454 | MYH7 | c.2484C= (p.Pro828=) n.2590C= | |
| 14 | g.23424964G>T | CA485766766 | MYH7 | c.2484C>A (p.Pro828=) n.2590C>A | |
| 14 | g.23424965G>A | CA389048319 | MYH7 | c.2483C>T (p.Pro828Leu) n.2589C>T | COSMIC |
| 14 | g.23424965G>C | CA389048320 | MYH7 | c.2483C>G (p.Pro828Arg) n.2589C>G | |
| 14 | g.23424965G>T | CA389048321 | MYH7 | c.2483C>A (p.Pro828His) n.2589C>A | |
| 14 | g.23424966G>A | CA257819508 | MYH7 | c.2482C>T (p.Pro828Ser) n.2588C>T | dbSNP |
| 14 | g.23424966G>C | CA389048322 | MYH7 | c.2482C>G (p.Pro828Ala) n.2588C>G | |
| 14 | g.23424966G= | CA2123456463 | MYH7 | c.2482C= (p.Pro828=) n.2588C= | |
| 14 | g.23424966G>T | CA389048323 | MYH7 | c.2482C>A (p.Pro828Thr) n.2588C>A | ClinVar dbSNP |
| 14 | g.23424967C>A | CA389048324 | MYH7 | c.2481G>T (p.Trp827Cys) n.2587G>T | ClinVar |
| 14 | g.23424967C= | CA2123456469 | MYH7 | c.2481G= (p.Trp827=) n.2587G= | |
| 14 | g.23424967C>G | CA012451 | MYH7 | c.2481G>C (p.Trp827Cys) n.2587G>C | ClinVar dbSNP |
| 14 | g.23424967C>T | CA389048325 | MYH7 | c.2481G>A (p.Trp827Ter) n.2587G>A | |
| 14 | g.23424968C>A | CA033052 | MYH7 | c.2480G>T (p.Trp827Leu) n.2586G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23424968C= | CA2123456475 | MYH7 | c.2480G= (p.Trp827=) n.2586G= | |
| 14 | g.23424968C>G | CA389048326 | MYH7 | c.2480G>C (p.Trp827Ser) n.2586G>C | ClinVar dbSNP |
| 14 | g.23424968C>T | CA389048327 | MYH7 | c.2480G>A (p.Trp827Ter) n.2586G>A | |
| 14 | g.23424969A= | CA2123456479 | MYH7 | c.2479T= (p.Trp827=) n.2585T= | |
| 14 | g.23424969A>C | CA389048328 | MYH7 | c.2479T>G (p.Trp827Gly) n.2585T>G | |
| 14 | g.23424969A>G | CA012445 | MYH7 | c.2479T>C (p.Trp827Arg) n.2585T>C | ClinVar dbSNP |
| 14 | g.23424969A>T | CA389048329 | MYH7 | c.2479T>A (p.Trp827Arg) n.2585T>A | |
| 14 | g.23424970A= | CA2123456482 | MYH7 | c.2478T= (p.Asn826=) n.2584T= | |
| 14 | g.23424970A>C | CA389048330 | MYH7 | c.2478T>G (p.Asn826Lys) n.2584T>G | |
| 14 | g.23424970A>G | CA485766768 | MYH7 | c.2478T>C (p.Asn826=) n.2584T>C | |
| 14 | g.23424970A>T | CA012437 | MYH7 | c.2478T>A (p.Asn826Lys) n.2584T>A | ClinVar dbSNP |
| 14 | g.23424971T>A | CA389048331 | MYH7 | c.2477A>T (p.Asn826Ile) n.2583A>T | |
| 14 | g.23424971T>C | CA389048332 | MYH7 | c.2477A>G (p.Asn826Ser) n.2583A>G | ClinVar dbSNP |
| 14 | g.23424971T>G | CA389048333 | MYH7 | c.2477A>C (p.Asn826Thr) n.2583A>C | |
| 14 | g.23424972T>A | CA389048334 | MYH7 | c.2476A>T (p.Asn826Tyr) n.2582A>T | |
| 14 | g.23424972T>C | CA389048335 | MYH7 | c.2476A>G (p.Asn826Asp) n.2582A>G | |
| 14 | g.23424972T>G | CA389048336 | MYH7 | c.2476A>C (p.Asn826His) n.2582A>C | |
| 14 | g.23424973C>A | CA389048338 | MYH7 | c.2475G>T (p.Lys825Asn) n.2581G>T | |
| 14 | g.23424973C>G | CA389048337 | MYH7 | c.2475G>C (p.Lys825Asn) n.2581G>C | |
| 14 | g.23424973C>T | CA485766769 | MYH7 | c.2475G>A (p.Lys825=) n.2581G>A | |
| 14 | g.23424974T>A | CA389048339 | MYH7 | c.2474A>T (p.Lys825Met) n.2580A>T | |
| 14 | g.23424974T>C | CA012431 | MYH7 | c.2474A>G (p.Lys825Arg) n.2580A>G | dbSNP |
| 14 | g.23424974T>G | CA389048340 | MYH7 | c.2474A>C (p.Lys825Thr) n.2580A>C | |
| 14 | g.23424974T= | CA2123456491 | MYH7 | c.2474A= (p.Lys825=) n.2580A= | |
| 14 | g.23424975T>A | CA389048341 | MYH7 | c.2473A>T (p.Lys825Ter) n.2579A>T | |
| 14 | g.23424975T>C | CA389048342 | MYH7 | c.2473A>G (p.Lys825Glu) n.2579A>G | |
| 14 | g.23424975T>G | CA012422 | MYH7 | c.2473A>C (p.Lys825Gln) n.2579A>C | ClinVar dbSNP |
| 14 | g.23424975T= | CA2123456495 | MYH7 | c.2473A= (p.Lys825=) n.2579A= | |
| 14 | g.23424976G>A | CA012414 | MYH7 | c.2472C>T (p.Val824=) n.2578C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23424976G>C | CA033029 | MYH7 | c.2472C>G (p.Val824=) n.2578C>G | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23424976G= | CA2123456521 | MYH7 | c.2472C= (p.Val824=) n.2578C= | |
| 14 | g.23424976G>T | CA485766770 | MYH7 | c.2472C>A (p.Val824=) n.2578C>A | |
| 14 | g.23424977A= | CA2123456526 | MYH7 | c.2471T= (p.Val824=) n.2577T= | |
| 14 | g.23424977A>C | CA389048343 | MYH7 | c.2471T>G (p.Val824Gly) n.2577T>G | |
| 14 | g.23424977A>G | CA012405 | MYH7 | c.2471T>C (p.Val824Ala) n.2577T>C | ClinVar dbSNP |
| 14 | g.23424977A>T | CA389048344 | MYH7 | c.2471T>A (p.Val824Asp) n.2577T>A | |
| 14 | g.23424977_23424978delinsAC | CA2123456530 | MYH7 | c.2470_2471delinsGT (p.Val824=) n.2576_2577delinsGT | |
| 14 | g.23424978C>A | CA389048346 | MYH7 | c.2470G>T (p.Val824Phe) n.2576G>T | |
| 14 | g.23424978C= | CA2123456536 | MYH7 | c.2470G= (p.Val824=) n.2576G= | |
| 14 | g.23424978C>G | CA012395 | MYH7 | c.2470G>C (p.Val824Leu) n.2576G>C | ClinVar dbSNP |
| 14 | g.23424978C>T | CA389048345 | MYH7 | c.2470G>A (p.Val824Ile) n.2576G>A | ClinVar dbSNP |
| 14 | g.23424982del | CA032999 | MYH7 | c.2470del (p.Val824SerfsTer7) n.2576del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23424979C>A | CA012386 | MYH7 | c.2469G>T (p.Gly823=) n.2575G>T | ClinVar dbSNP |
| 14 | g.23424979C= | CA2123456548 | MYH7 | c.2469G= (p.Gly823=) n.2575G= | |
| 14 | g.23424979C>G | CA485766772 | MYH7 | c.2469G>C (p.Gly823=) n.2575G>C | |
| 14 | g.23424979C>T | CA485766771 | MYH7 | c.2469G>A (p.Gly823=) n.2575G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 14 | g.23424980C>A | CA389048347 | MYH7 | c.2468G>T (p.Gly823Val) n.2574G>T | |
| 14 | g.23424980C= | CA2123456557 | MYH7 | c.2468G= (p.Gly823=) n.2574G= | |
| 14 | g.23424980C>G | CA389048348 | MYH7 | c.2468G>C (p.Gly823Ala) n.2574G>C | |
| 14 | g.23424980C>T | CA389048349 | MYH7 | c.2468G>A (p.Gly823Glu) n.2574G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23424981C>A | CA389048352 | MYH7 | c.2467G>T (p.Gly823Trp) n.2573G>T | COSMIC |
| 14 | g.23424981C= | CA2123456563 | MYH7 | c.2467G= (p.Gly823=) n.2573G= | |
| 14 | g.23424981C>G | CA389048351 | MYH7 | c.2467G>C (p.Gly823Arg) n.2573G>C | ClinVar dbSNP |
| 14 | g.23424981C>T | CA389048350 | MYH7 | c.2467G>A (p.Gly823Arg) n.2573G>A | ClinVar dbSNP |
| 14 | g.23424982C>A | CA389048353 | MYH7 | c.2466G>T (p.Met822Ile) n.2572G>T | COSMIC |
| 14 | g.23424982C>G | CA389048354 | MYH7 | c.2466G>C (p.Met822Ile) n.2572G>C | |
| 14 | g.23424982C>T | CA389048355 | MYH7 | c.2466G>A (p.Met822Ile) n.2572G>A | ClinVar dbSNP COSMIC |