WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178630320G>A | CA430113548 | TTN | c.36498C>T (p.His12166=) c.17583C>T (p.His5861=) c.17382C>T (p.His5794=) c.17007C>T (p.His5669=) c.44202C>T (p.His14734=) c.39279C>T (p.His13093=) c.43299C>T (p.His14433=) c.17193C>T (p.His5731=) c.17052C>T (p.His5684=) c.43095C>T (p.His14365=) c.38493C>T (p.His12831=) c.38490C>T (p.His12830=) c.35532C>T (p.His11844=) c.17148C>T (p.His5716=) c.38643C>T (p.His12881=) c.38640C>T (p.His12880=) c.38073C>T (p.His12691=) c.35415C>T (p.His11805=) c.35334C>T (p.His11778=) c.17097C>T (p.His5699=) c.6951C>T (p.His2317=) | dbSNP gnomAD v4 |
| 2 | g.178630320G>C | CA349645584 | TTN | c.36498C>G (p.His12166Gln) c.17583C>G (p.His5861Gln) c.17382C>G (p.His5794Gln) c.17007C>G (p.His5669Gln) c.44202C>G (p.His14734Gln) c.39279C>G (p.His13093Gln) c.43299C>G (p.His14433Gln) c.17193C>G (p.His5731Gln) c.17052C>G (p.His5684Gln) c.43095C>G (p.His14365Gln) c.38493C>G (p.His12831Gln) c.38490C>G (p.His12830Gln) c.35532C>G (p.His11844Gln) c.17148C>G (p.His5716Gln) c.38643C>G (p.His12881Gln) c.38640C>G (p.His12880Gln) c.38073C>G (p.His12691Gln) c.35415C>G (p.His11805Gln) c.35334C>G (p.His11778Gln) c.17097C>G (p.His5699Gln) c.6951C>G (p.His2317Gln) | |
| 2 | g.178630320G= | CA1310555928 | TTN | c.36498C= (p.His12166=) c.17583C= (p.His5861=) c.17382C= (p.His5794=) c.17007C= (p.His5669=) c.44202C= (p.His14734=) c.39279C= (p.His13093=) c.43299C= (p.His14433=) c.17193C= (p.His5731=) c.17052C= (p.His5684=) c.43095C= (p.His14365=) c.38493C= (p.His12831=) c.38490C= (p.His12830=) c.35532C= (p.His11844=) c.17148C= (p.His5716=) c.38643C= (p.His12881=) c.38640C= (p.His12880=) c.38073C= (p.His12691=) c.35415C= (p.His11805=) c.35334C= (p.His11778=) c.17097C= (p.His5699=) c.6951C= (p.His2317=) | |
| 2 | g.178630320G>T | CA349645585 | TTN | c.36498C>A (p.His12166Gln) c.17583C>A (p.His5861Gln) c.17382C>A (p.His5794Gln) c.17007C>A (p.His5669Gln) c.44202C>A (p.His14734Gln) c.39279C>A (p.His13093Gln) c.43299C>A (p.His14433Gln) c.17193C>A (p.His5731Gln) c.17052C>A (p.His5684Gln) c.43095C>A (p.His14365Gln) c.38493C>A (p.His12831Gln) c.38490C>A (p.His12830Gln) c.35532C>A (p.His11844Gln) c.17148C>A (p.His5716Gln) c.38643C>A (p.His12881Gln) c.38640C>A (p.His12880Gln) c.38073C>A (p.His12691Gln) c.35415C>A (p.His11805Gln) c.35334C>A (p.His11778Gln) c.17097C>A (p.His5699Gln) c.6951C>A (p.His2317Gln) | |
| 2 | g.178630321T>A | CA349645588 | TTN | c.36497A>T (p.His12166Leu) c.17582A>T (p.His5861Leu) c.17381A>T (p.His5794Leu) c.17006A>T (p.His5669Leu) c.44201A>T (p.His14734Leu) c.39278A>T (p.His13093Leu) c.43298A>T (p.His14433Leu) c.17192A>T (p.His5731Leu) c.17051A>T (p.His5684Leu) c.43094A>T (p.His14365Leu) c.38492A>T (p.His12831Leu) c.38489A>T (p.His12830Leu) c.35531A>T (p.His11844Leu) c.17147A>T (p.His5716Leu) c.38642A>T (p.His12881Leu) c.38639A>T (p.His12880Leu) c.38072A>T (p.His12691Leu) c.35414A>T (p.His11805Leu) c.35333A>T (p.His11778Leu) c.17096A>T (p.His5699Leu) c.6950A>T (p.His2317Leu) | |
| 2 | g.178630321T>C | CA349645590 | TTN | c.36497A>G (p.His12166Arg) c.17582A>G (p.His5861Arg) c.17381A>G (p.His5794Arg) c.17006A>G (p.His5669Arg) c.44201A>G (p.His14734Arg) c.39278A>G (p.His13093Arg) c.43298A>G (p.His14433Arg) c.17192A>G (p.His5731Arg) c.17051A>G (p.His5684Arg) c.43094A>G (p.His14365Arg) c.38492A>G (p.His12831Arg) c.38489A>G (p.His12830Arg) c.35531A>G (p.His11844Arg) c.17147A>G (p.His5716Arg) c.38642A>G (p.His12881Arg) c.38639A>G (p.His12880Arg) c.38072A>G (p.His12691Arg) c.35414A>G (p.His11805Arg) c.35333A>G (p.His11778Arg) c.17096A>G (p.His5699Arg) c.6950A>G (p.His2317Arg) | |
| 2 | g.178630321T>G | CA349645592 | TTN | c.36497A>C (p.His12166Pro) c.17582A>C (p.His5861Pro) c.17381A>C (p.His5794Pro) c.17006A>C (p.His5669Pro) c.44201A>C (p.His14734Pro) c.39278A>C (p.His13093Pro) c.43298A>C (p.His14433Pro) c.17192A>C (p.His5731Pro) c.17051A>C (p.His5684Pro) c.43094A>C (p.His14365Pro) c.38492A>C (p.His12831Pro) c.38489A>C (p.His12830Pro) c.35531A>C (p.His11844Pro) c.17147A>C (p.His5716Pro) c.38642A>C (p.His12881Pro) c.38639A>C (p.His12880Pro) c.38072A>C (p.His12691Pro) c.35414A>C (p.His11805Pro) c.35333A>C (p.His11778Pro) c.17096A>C (p.His5699Pro) c.6950A>C (p.His2317Pro) | |
| 2 | g.178630322G>A | CA349645595 | TTN | c.36496C>T (p.His12166Tyr) c.17581C>T (p.His5861Tyr) c.17380C>T (p.His5794Tyr) c.17005C>T (p.His5669Tyr) c.44200C>T (p.His14734Tyr) c.39277C>T (p.His13093Tyr) c.43297C>T (p.His14433Tyr) c.17191C>T (p.His5731Tyr) c.17050C>T (p.His5684Tyr) c.43093C>T (p.His14365Tyr) c.38491C>T (p.His12831Tyr) c.38488C>T (p.His12830Tyr) c.35530C>T (p.His11844Tyr) c.17146C>T (p.His5716Tyr) c.38641C>T (p.His12881Tyr) c.38638C>T (p.His12880Tyr) c.38071C>T (p.His12691Tyr) c.35413C>T (p.His11805Tyr) c.35332C>T (p.His11778Tyr) c.17095C>T (p.His5699Tyr) c.6949C>T (p.His2317Tyr) | |
| 2 | g.178630322G>C | CA349645596 | TTN | c.36496C>G (p.His12166Asp) c.17581C>G (p.His5861Asp) c.17380C>G (p.His5794Asp) c.17005C>G (p.His5669Asp) c.44200C>G (p.His14734Asp) c.39277C>G (p.His13093Asp) c.43297C>G (p.His14433Asp) c.17191C>G (p.His5731Asp) c.17050C>G (p.His5684Asp) c.43093C>G (p.His14365Asp) c.38491C>G (p.His12831Asp) c.38488C>G (p.His12830Asp) c.35530C>G (p.His11844Asp) c.17146C>G (p.His5716Asp) c.38641C>G (p.His12881Asp) c.38638C>G (p.His12880Asp) c.38071C>G (p.His12691Asp) c.35413C>G (p.His11805Asp) c.35332C>G (p.His11778Asp) c.17095C>G (p.His5699Asp) c.6949C>G (p.His2317Asp) | |
| 2 | g.178630322G>T | CA349645599 | TTN | c.36496C>A (p.His12166Asn) c.17581C>A (p.His5861Asn) c.17380C>A (p.His5794Asn) c.17005C>A (p.His5669Asn) c.44200C>A (p.His14734Asn) c.39277C>A (p.His13093Asn) c.43297C>A (p.His14433Asn) c.17191C>A (p.His5731Asn) c.17050C>A (p.His5684Asn) c.43093C>A (p.His14365Asn) c.38491C>A (p.His12831Asn) c.38488C>A (p.His12830Asn) c.35530C>A (p.His11844Asn) c.17146C>A (p.His5716Asn) c.38641C>A (p.His12881Asn) c.38638C>A (p.His12880Asn) c.38071C>A (p.His12691Asn) c.35413C>A (p.His11805Asn) c.35332C>A (p.His11778Asn) c.17095C>A (p.His5699Asn) c.6949C>A (p.His2317Asn) | |
| 2 | g.178630323C>A | CA349645603 | TTN | c.36495G>T (p.Leu12165Phe) c.17580G>T (p.Leu5860Phe) c.17379G>T (p.Leu5793Phe) c.17004G>T (p.Leu5668Phe) c.44199G>T (p.Leu14733Phe) c.39276G>T (p.Leu13092Phe) c.43296G>T (p.Leu14432Phe) c.17190G>T (p.Leu5730Phe) c.17049G>T (p.Leu5683Phe) c.43092G>T (p.Leu14364Phe) c.38490G>T (p.Leu12830Phe) c.38487G>T (p.Leu12829Phe) c.35529G>T (p.Leu11843Phe) c.17145G>T (p.Leu5715Phe) c.38640G>T (p.Leu12880Phe) c.38637G>T (p.Leu12879Phe) c.38070G>T (p.Leu12690Phe) c.35412G>T (p.Leu11804Phe) c.35331G>T (p.Leu11777Phe) c.17094G>T (p.Leu5698Phe) c.6948G>T (p.Leu2316Phe) | |
| 2 | g.178630323C>G | CA349645604 | TTN | c.36495G>C (p.Leu12165Phe) c.17580G>C (p.Leu5860Phe) c.17379G>C (p.Leu5793Phe) c.17004G>C (p.Leu5668Phe) c.44199G>C (p.Leu14733Phe) c.39276G>C (p.Leu13092Phe) c.43296G>C (p.Leu14432Phe) c.17190G>C (p.Leu5730Phe) c.17049G>C (p.Leu5683Phe) c.43092G>C (p.Leu14364Phe) c.38490G>C (p.Leu12830Phe) c.38487G>C (p.Leu12829Phe) c.35529G>C (p.Leu11843Phe) c.17145G>C (p.Leu5715Phe) c.38640G>C (p.Leu12880Phe) c.38637G>C (p.Leu12879Phe) c.38070G>C (p.Leu12690Phe) c.35412G>C (p.Leu11804Phe) c.35331G>C (p.Leu11777Phe) c.17094G>C (p.Leu5698Phe) c.6948G>C (p.Leu2316Phe) | |
| 2 | g.178630323C>T | CA430113558 | TTN | c.36495G>A (p.Leu12165=) c.17580G>A (p.Leu5860=) c.17379G>A (p.Leu5793=) c.17004G>A (p.Leu5668=) c.44199G>A (p.Leu14733=) c.39276G>A (p.Leu13092=) c.43296G>A (p.Leu14432=) c.17190G>A (p.Leu5730=) c.17049G>A (p.Leu5683=) c.43092G>A (p.Leu14364=) c.38490G>A (p.Leu12830=) c.38487G>A (p.Leu12829=) c.35529G>A (p.Leu11843=) c.17145G>A (p.Leu5715=) c.38640G>A (p.Leu12880=) c.38637G>A (p.Leu12879=) c.38070G>A (p.Leu12690=) c.35412G>A (p.Leu11804=) c.35331G>A (p.Leu11777=) c.17094G>A (p.Leu5698=) c.6948G>A (p.Leu2316=) | |
| 2 | g.178630324A>C | CA349645605 | TTN | c.36494T>G (p.Leu12165Trp) c.17579T>G (p.Leu5860Trp) c.17378T>G (p.Leu5793Trp) c.17003T>G (p.Leu5668Trp) c.44198T>G (p.Leu14733Trp) c.39275T>G (p.Leu13092Trp) c.43295T>G (p.Leu14432Trp) c.17189T>G (p.Leu5730Trp) c.17048T>G (p.Leu5683Trp) c.43091T>G (p.Leu14364Trp) c.38489T>G (p.Leu12830Trp) c.38486T>G (p.Leu12829Trp) c.35528T>G (p.Leu11843Trp) c.17144T>G (p.Leu5715Trp) c.38639T>G (p.Leu12880Trp) c.38636T>G (p.Leu12879Trp) c.38069T>G (p.Leu12690Trp) c.35411T>G (p.Leu11804Trp) c.35330T>G (p.Leu11777Trp) c.17093T>G (p.Leu5698Trp) c.6947T>G (p.Leu2316Trp) | |
| 2 | g.178630324A>G | CA349645611 | TTN | c.36494T>C (p.Leu12165Ser) c.17579T>C (p.Leu5860Ser) c.17378T>C (p.Leu5793Ser) c.17003T>C (p.Leu5668Ser) c.44198T>C (p.Leu14733Ser) c.39275T>C (p.Leu13092Ser) c.43295T>C (p.Leu14432Ser) c.17189T>C (p.Leu5730Ser) c.17048T>C (p.Leu5683Ser) c.43091T>C (p.Leu14364Ser) c.38489T>C (p.Leu12830Ser) c.38486T>C (p.Leu12829Ser) c.35528T>C (p.Leu11843Ser) c.17144T>C (p.Leu5715Ser) c.38639T>C (p.Leu12880Ser) c.38636T>C (p.Leu12879Ser) c.38069T>C (p.Leu12690Ser) c.35411T>C (p.Leu11804Ser) c.35330T>C (p.Leu11777Ser) c.17093T>C (p.Leu5698Ser) c.6947T>C (p.Leu2316Ser) | gnomAD v4 |
| 2 | g.178630324A>T | CA349645608 | TTN | c.36494T>A (p.Leu12165Ter) c.17579T>A (p.Leu5860Ter) c.17378T>A (p.Leu5793Ter) c.17003T>A (p.Leu5668Ter) c.44198T>A (p.Leu14733Ter) c.39275T>A (p.Leu13092Ter) c.43295T>A (p.Leu14432Ter) c.17189T>A (p.Leu5730Ter) c.17048T>A (p.Leu5683Ter) c.43091T>A (p.Leu14364Ter) c.38489T>A (p.Leu12830Ter) c.38486T>A (p.Leu12829Ter) c.35528T>A (p.Leu11843Ter) c.17144T>A (p.Leu5715Ter) c.38639T>A (p.Leu12880Ter) c.38636T>A (p.Leu12879Ter) c.38069T>A (p.Leu12690Ter) c.35411T>A (p.Leu11804Ter) c.35330T>A (p.Leu11777Ter) c.17093T>A (p.Leu5698Ter) c.6947T>A (p.Leu2316Ter) | |
| 2 | g.178630325A= | CA1310555929 | TTN | c.36493T= (p.Leu12165=) c.17578T= (p.Leu5860=) c.17377T= (p.Leu5793=) c.17002T= (p.Leu5668=) c.44197T= (p.Leu14733=) c.39274T= (p.Leu13092=) c.43294T= (p.Leu14432=) c.17188T= (p.Leu5730=) c.17047T= (p.Leu5683=) c.43090T= (p.Leu14364=) c.38488T= (p.Leu12830=) c.38485T= (p.Leu12829=) c.35527T= (p.Leu11843=) c.17143T= (p.Leu5715=) c.38638T= (p.Leu12880=) c.38635T= (p.Leu12879=) c.38068T= (p.Leu12690=) c.35410T= (p.Leu11804=) c.35329T= (p.Leu11777=) c.17092T= (p.Leu5698=) c.6946T= (p.Leu2316=) | |
| 2 | g.178630325A>C | CA349645614 | TTN | c.36493T>G (p.Leu12165Val) c.17578T>G (p.Leu5860Val) c.17377T>G (p.Leu5793Val) c.17002T>G (p.Leu5668Val) c.44197T>G (p.Leu14733Val) c.39274T>G (p.Leu13092Val) c.43294T>G (p.Leu14432Val) c.17188T>G (p.Leu5730Val) c.17047T>G (p.Leu5683Val) c.43090T>G (p.Leu14364Val) c.38488T>G (p.Leu12830Val) c.38485T>G (p.Leu12829Val) c.35527T>G (p.Leu11843Val) c.17143T>G (p.Leu5715Val) c.38638T>G (p.Leu12880Val) c.38635T>G (p.Leu12879Val) c.38068T>G (p.Leu12690Val) c.35410T>G (p.Leu11804Val) c.35329T>G (p.Leu11777Val) c.17092T>G (p.Leu5698Val) c.6946T>G (p.Leu2316Val) | |
| 2 | g.178630325A>G | CA430113560 | TTN | c.36493T>C (p.Leu12165=) c.17578T>C (p.Leu5860=) c.17377T>C (p.Leu5793=) c.17002T>C (p.Leu5668=) c.44197T>C (p.Leu14733=) c.39274T>C (p.Leu13092=) c.43294T>C (p.Leu14432=) c.17188T>C (p.Leu5730=) c.17047T>C (p.Leu5683=) c.43090T>C (p.Leu14364=) c.38488T>C (p.Leu12830=) c.38485T>C (p.Leu12829=) c.35527T>C (p.Leu11843=) c.17143T>C (p.Leu5715=) c.38638T>C (p.Leu12880=) c.38635T>C (p.Leu12879=) c.38068T>C (p.Leu12690=) c.35410T>C (p.Leu11804=) c.35329T>C (p.Leu11777=) c.17092T>C (p.Leu5698=) c.6946T>C (p.Leu2316=) | ClinVar dbSNP |
| 2 | g.178630325A>T | CA349645616 | TTN | c.36493T>A (p.Leu12165Met) c.17578T>A (p.Leu5860Met) c.17377T>A (p.Leu5793Met) c.17002T>A (p.Leu5668Met) c.44197T>A (p.Leu14733Met) c.39274T>A (p.Leu13092Met) c.43294T>A (p.Leu14432Met) c.17188T>A (p.Leu5730Met) c.17047T>A (p.Leu5683Met) c.43090T>A (p.Leu14364Met) c.38488T>A (p.Leu12830Met) c.38485T>A (p.Leu12829Met) c.35527T>A (p.Leu11843Met) c.17143T>A (p.Leu5715Met) c.38638T>A (p.Leu12880Met) c.38635T>A (p.Leu12879Met) c.38068T>A (p.Leu12690Met) c.35410T>A (p.Leu11804Met) c.35329T>A (p.Leu11777Met) c.17092T>A (p.Leu5698Met) c.6946T>A (p.Leu2316Met) | |
| 2 | g.178630326A>C | CA430113562 | TTN | c.36492T>G (p.Val12164=) c.17577T>G (p.Val5859=) c.17376T>G (p.Val5792=) c.17001T>G (p.Val5667=) c.44196T>G (p.Val14732=) c.39273T>G (p.Val13091=) c.43293T>G (p.Val14431=) c.17187T>G (p.Val5729=) c.17046T>G (p.Val5682=) c.43089T>G (p.Val14363=) c.38487T>G (p.Val12829=) c.38484T>G (p.Val12828=) c.35526T>G (p.Val11842=) c.17142T>G (p.Val5714=) c.38637T>G (p.Val12879=) c.38634T>G (p.Val12878=) c.38067T>G (p.Val12689=) c.35409T>G (p.Val11803=) c.35328T>G (p.Val11776=) c.17091T>G (p.Val5697=) c.6945T>G (p.Val2315=) | |
| 2 | g.178630326A>G | CA430113564 | TTN | c.36492T>C (p.Val12164=) c.17577T>C (p.Val5859=) c.17376T>C (p.Val5792=) c.17001T>C (p.Val5667=) c.44196T>C (p.Val14732=) c.39273T>C (p.Val13091=) c.43293T>C (p.Val14431=) c.17187T>C (p.Val5729=) c.17046T>C (p.Val5682=) c.43089T>C (p.Val14363=) c.38487T>C (p.Val12829=) c.38484T>C (p.Val12828=) c.35526T>C (p.Val11842=) c.17142T>C (p.Val5714=) c.38637T>C (p.Val12879=) c.38634T>C (p.Val12878=) c.38067T>C (p.Val12689=) c.35409T>C (p.Val11803=) c.35328T>C (p.Val11776=) c.17091T>C (p.Val5697=) c.6945T>C (p.Val2315=) | |
| 2 | g.178630326A>T | CA430113563 | TTN | c.36492T>A (p.Val12164=) c.17577T>A (p.Val5859=) c.17376T>A (p.Val5792=) c.17001T>A (p.Val5667=) c.44196T>A (p.Val14732=) c.39273T>A (p.Val13091=) c.43293T>A (p.Val14431=) c.17187T>A (p.Val5729=) c.17046T>A (p.Val5682=) c.43089T>A (p.Val14363=) c.38487T>A (p.Val12829=) c.38484T>A (p.Val12828=) c.35526T>A (p.Val11842=) c.17142T>A (p.Val5714=) c.38637T>A (p.Val12879=) c.38634T>A (p.Val12878=) c.38067T>A (p.Val12689=) c.35409T>A (p.Val11803=) c.35328T>A (p.Val11776=) c.17091T>A (p.Val5697=) c.6945T>A (p.Val2315=) | |
| 2 | g.178630327A>C | CA349645619 | TTN | c.36491T>G (p.Val12164Gly) c.17576T>G (p.Val5859Gly) c.17375T>G (p.Val5792Gly) c.17000T>G (p.Val5667Gly) c.44195T>G (p.Val14732Gly) c.39272T>G (p.Val13091Gly) c.43292T>G (p.Val14431Gly) c.17186T>G (p.Val5729Gly) c.17045T>G (p.Val5682Gly) c.43088T>G (p.Val14363Gly) c.38486T>G (p.Val12829Gly) c.38483T>G (p.Val12828Gly) c.35525T>G (p.Val11842Gly) c.17141T>G (p.Val5714Gly) c.38636T>G (p.Val12879Gly) c.38633T>G (p.Val12878Gly) c.38066T>G (p.Val12689Gly) c.35408T>G (p.Val11803Gly) c.35327T>G (p.Val11776Gly) c.17090T>G (p.Val5697Gly) c.6944T>G (p.Val2315Gly) | |
| 2 | g.178630327A>G | CA349645622 | TTN | c.36491T>C (p.Val12164Ala) c.17576T>C (p.Val5859Ala) c.17375T>C (p.Val5792Ala) c.17000T>C (p.Val5667Ala) c.44195T>C (p.Val14732Ala) c.39272T>C (p.Val13091Ala) c.43292T>C (p.Val14431Ala) c.17186T>C (p.Val5729Ala) c.17045T>C (p.Val5682Ala) c.43088T>C (p.Val14363Ala) c.38486T>C (p.Val12829Ala) c.38483T>C (p.Val12828Ala) c.35525T>C (p.Val11842Ala) c.17141T>C (p.Val5714Ala) c.38636T>C (p.Val12879Ala) c.38633T>C (p.Val12878Ala) c.38066T>C (p.Val12689Ala) c.35408T>C (p.Val11803Ala) c.35327T>C (p.Val11776Ala) c.17090T>C (p.Val5697Ala) c.6944T>C (p.Val2315Ala) | |
| 2 | g.178630327A>T | CA349645623 | TTN | c.36491T>A (p.Val12164Asp) c.17576T>A (p.Val5859Asp) c.17375T>A (p.Val5792Asp) c.17000T>A (p.Val5667Asp) c.44195T>A (p.Val14732Asp) c.39272T>A (p.Val13091Asp) c.43292T>A (p.Val14431Asp) c.17186T>A (p.Val5729Asp) c.17045T>A (p.Val5682Asp) c.43088T>A (p.Val14363Asp) c.38486T>A (p.Val12829Asp) c.38483T>A (p.Val12828Asp) c.35525T>A (p.Val11842Asp) c.17141T>A (p.Val5714Asp) c.38636T>A (p.Val12879Asp) c.38633T>A (p.Val12878Asp) c.38066T>A (p.Val12689Asp) c.35408T>A (p.Val11803Asp) c.35327T>A (p.Val11776Asp) c.17090T>A (p.Val5697Asp) c.6944T>A (p.Val2315Asp) | |
| 2 | g.178630328C>A | CA349645625 | TTN | c.36490G>T (p.Val12164Phe) c.17575G>T (p.Val5859Phe) c.17374G>T (p.Val5792Phe) c.16999G>T (p.Val5667Phe) c.44194G>T (p.Val14732Phe) c.39271G>T (p.Val13091Phe) c.43291G>T (p.Val14431Phe) c.17185G>T (p.Val5729Phe) c.17044G>T (p.Val5682Phe) c.43087G>T (p.Val14363Phe) c.38485G>T (p.Val12829Phe) c.38482G>T (p.Val12828Phe) c.35524G>T (p.Val11842Phe) c.17140G>T (p.Val5714Phe) c.38635G>T (p.Val12879Phe) c.38632G>T (p.Val12878Phe) c.38065G>T (p.Val12689Phe) c.35407G>T (p.Val11803Phe) c.35326G>T (p.Val11776Phe) c.17089G>T (p.Val5697Phe) c.6943G>T (p.Val2315Phe) | |
| 2 | g.178630328C>G | CA349645628 | TTN | c.36490G>C (p.Val12164Leu) c.17575G>C (p.Val5859Leu) c.17374G>C (p.Val5792Leu) c.16999G>C (p.Val5667Leu) c.44194G>C (p.Val14732Leu) c.39271G>C (p.Val13091Leu) c.43291G>C (p.Val14431Leu) c.17185G>C (p.Val5729Leu) c.17044G>C (p.Val5682Leu) c.43087G>C (p.Val14363Leu) c.38485G>C (p.Val12829Leu) c.38482G>C (p.Val12828Leu) c.35524G>C (p.Val11842Leu) c.17140G>C (p.Val5714Leu) c.38635G>C (p.Val12879Leu) c.38632G>C (p.Val12878Leu) c.38065G>C (p.Val12689Leu) c.35407G>C (p.Val11803Leu) c.35326G>C (p.Val11776Leu) c.17089G>C (p.Val5697Leu) c.6943G>C (p.Val2315Leu) | |
| 2 | g.178630328C>T | CA349645631 | TTN | c.36490G>A (p.Val12164Ile) c.17575G>A (p.Val5859Ile) c.17374G>A (p.Val5792Ile) c.16999G>A (p.Val5667Ile) c.44194G>A (p.Val14732Ile) c.39271G>A (p.Val13091Ile) c.43291G>A (p.Val14431Ile) c.17185G>A (p.Val5729Ile) c.17044G>A (p.Val5682Ile) c.43087G>A (p.Val14363Ile) c.38485G>A (p.Val12829Ile) c.38482G>A (p.Val12828Ile) c.35524G>A (p.Val11842Ile) c.17140G>A (p.Val5714Ile) c.38635G>A (p.Val12879Ile) c.38632G>A (p.Val12878Ile) c.38065G>A (p.Val12689Ile) c.35407G>A (p.Val11803Ile) c.35326G>A (p.Val11776Ile) c.17089G>A (p.Val5697Ile) c.6943G>A (p.Val2315Ile) | |
| 2 | g.178630329A= | CA1310555930 | TTN | c.36489T= (p.Leu12163=) c.17574T= (p.Leu5858=) c.17373T= (p.Leu5791=) c.16998T= (p.Leu5666=) c.44193T= (p.Leu14731=) c.39270T= (p.Leu13090=) c.43290T= (p.Leu14430=) c.17184T= (p.Leu5728=) c.17043T= (p.Leu5681=) c.43086T= (p.Leu14362=) c.38484T= (p.Leu12828=) c.38481T= (p.Leu12827=) c.35523T= (p.Leu11841=) c.17139T= (p.Leu5713=) c.38634T= (p.Leu12878=) c.38631T= (p.Leu12877=) c.38064T= (p.Leu12688=) c.35406T= (p.Leu11802=) c.35325T= (p.Leu11775=) c.17088T= (p.Leu5696=) c.6942T= (p.Leu2314=) | |
| 2 | g.178630329A>C | CA430113570 | TTN | c.36489T>G (p.Leu12163=) c.17574T>G (p.Leu5858=) c.17373T>G (p.Leu5791=) c.16998T>G (p.Leu5666=) c.44193T>G (p.Leu14731=) c.39270T>G (p.Leu13090=) c.43290T>G (p.Leu14430=) c.17184T>G (p.Leu5728=) c.17043T>G (p.Leu5681=) c.43086T>G (p.Leu14362=) c.38484T>G (p.Leu12828=) c.38481T>G (p.Leu12827=) c.35523T>G (p.Leu11841=) c.17139T>G (p.Leu5713=) c.38634T>G (p.Leu12878=) c.38631T>G (p.Leu12877=) c.38064T>G (p.Leu12688=) c.35406T>G (p.Leu11802=) c.35325T>G (p.Leu11775=) c.17088T>G (p.Leu5696=) c.6942T>G (p.Leu2314=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178630329A>G | CA430113571 | TTN | c.36489T>C (p.Leu12163=) c.17574T>C (p.Leu5858=) c.17373T>C (p.Leu5791=) c.16998T>C (p.Leu5666=) c.44193T>C (p.Leu14731=) c.39270T>C (p.Leu13090=) c.43290T>C (p.Leu14430=) c.17184T>C (p.Leu5728=) c.17043T>C (p.Leu5681=) c.43086T>C (p.Leu14362=) c.38484T>C (p.Leu12828=) c.38481T>C (p.Leu12827=) c.35523T>C (p.Leu11841=) c.17139T>C (p.Leu5713=) c.38634T>C (p.Leu12878=) c.38631T>C (p.Leu12877=) c.38064T>C (p.Leu12688=) c.35406T>C (p.Leu11802=) c.35325T>C (p.Leu11775=) c.17088T>C (p.Leu5696=) c.6942T>C (p.Leu2314=) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178630329A>T | CA430113573 | TTN | c.36489T>A (p.Leu12163=) c.17574T>A (p.Leu5858=) c.17373T>A (p.Leu5791=) c.16998T>A (p.Leu5666=) c.44193T>A (p.Leu14731=) c.39270T>A (p.Leu13090=) c.43290T>A (p.Leu14430=) c.17184T>A (p.Leu5728=) c.17043T>A (p.Leu5681=) c.43086T>A (p.Leu14362=) c.38484T>A (p.Leu12828=) c.38481T>A (p.Leu12827=) c.35523T>A (p.Leu11841=) c.17139T>A (p.Leu5713=) c.38634T>A (p.Leu12878=) c.38631T>A (p.Leu12877=) c.38064T>A (p.Leu12688=) c.35406T>A (p.Leu11802=) c.35325T>A (p.Leu11775=) c.17088T>A (p.Leu5696=) c.6942T>A (p.Leu2314=) | |
| 2 | g.178630330A>C | CA349645632 | TTN | c.36488T>G (p.Leu12163Arg) c.17573T>G (p.Leu5858Arg) c.17372T>G (p.Leu5791Arg) c.16997T>G (p.Leu5666Arg) c.44192T>G (p.Leu14731Arg) c.39269T>G (p.Leu13090Arg) c.43289T>G (p.Leu14430Arg) c.17183T>G (p.Leu5728Arg) c.17042T>G (p.Leu5681Arg) c.43085T>G (p.Leu14362Arg) c.38483T>G (p.Leu12828Arg) c.38480T>G (p.Leu12827Arg) c.35522T>G (p.Leu11841Arg) c.17138T>G (p.Leu5713Arg) c.38633T>G (p.Leu12878Arg) c.38630T>G (p.Leu12877Arg) c.38063T>G (p.Leu12688Arg) c.35405T>G (p.Leu11802Arg) c.35324T>G (p.Leu11775Arg) c.17087T>G (p.Leu5696Arg) c.6941T>G (p.Leu2314Arg) | |
| 2 | g.178630330A>G | CA349645634 | TTN | c.36488T>C (p.Leu12163Pro) c.17573T>C (p.Leu5858Pro) c.17372T>C (p.Leu5791Pro) c.16997T>C (p.Leu5666Pro) c.44192T>C (p.Leu14731Pro) c.39269T>C (p.Leu13090Pro) c.43289T>C (p.Leu14430Pro) c.17183T>C (p.Leu5728Pro) c.17042T>C (p.Leu5681Pro) c.43085T>C (p.Leu14362Pro) c.38483T>C (p.Leu12828Pro) c.38480T>C (p.Leu12827Pro) c.35522T>C (p.Leu11841Pro) c.17138T>C (p.Leu5713Pro) c.38633T>C (p.Leu12878Pro) c.38630T>C (p.Leu12877Pro) c.38063T>C (p.Leu12688Pro) c.35405T>C (p.Leu11802Pro) c.35324T>C (p.Leu11775Pro) c.17087T>C (p.Leu5696Pro) c.6941T>C (p.Leu2314Pro) | |
| 2 | g.178630330A>T | CA349645633 | TTN | c.36488T>A (p.Leu12163His) c.17573T>A (p.Leu5858His) c.17372T>A (p.Leu5791His) c.16997T>A (p.Leu5666His) c.44192T>A (p.Leu14731His) c.39269T>A (p.Leu13090His) c.43289T>A (p.Leu14430His) c.17183T>A (p.Leu5728His) c.17042T>A (p.Leu5681His) c.43085T>A (p.Leu14362His) c.38483T>A (p.Leu12828His) c.38480T>A (p.Leu12827His) c.35522T>A (p.Leu11841His) c.17138T>A (p.Leu5713His) c.38633T>A (p.Leu12878His) c.38630T>A (p.Leu12877His) c.38063T>A (p.Leu12688His) c.35405T>A (p.Leu11802His) c.35324T>A (p.Leu11775His) c.17087T>A (p.Leu5696His) c.6941T>A (p.Leu2314His) | |
| 2 | g.178630331G>A | CA1995723 | TTN | c.36487C>T (p.Leu12163Phe) c.17572C>T (p.Leu5858Phe) c.17371C>T (p.Leu5791Phe) c.16996C>T (p.Leu5666Phe) c.44191C>T (p.Leu14731Phe) c.39268C>T (p.Leu13090Phe) c.43288C>T (p.Leu14430Phe) c.17182C>T (p.Leu5728Phe) c.17041C>T (p.Leu5681Phe) c.43084C>T (p.Leu14362Phe) c.38482C>T (p.Leu12828Phe) c.38479C>T (p.Leu12827Phe) c.35521C>T (p.Leu11841Phe) c.17137C>T (p.Leu5713Phe) c.38632C>T (p.Leu12878Phe) c.38629C>T (p.Leu12877Phe) c.38062C>T (p.Leu12688Phe) c.35404C>T (p.Leu11802Phe) c.35323C>T (p.Leu11775Phe) c.17086C>T (p.Leu5696Phe) c.6940C>T (p.Leu2314Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178630331G>C | CA349645635 | TTN | c.36487C>G (p.Leu12163Val) c.17572C>G (p.Leu5858Val) c.17371C>G (p.Leu5791Val) c.16996C>G (p.Leu5666Val) c.44191C>G (p.Leu14731Val) c.39268C>G (p.Leu13090Val) c.43288C>G (p.Leu14430Val) c.17182C>G (p.Leu5728Val) c.17041C>G (p.Leu5681Val) c.43084C>G (p.Leu14362Val) c.38482C>G (p.Leu12828Val) c.38479C>G (p.Leu12827Val) c.35521C>G (p.Leu11841Val) c.17137C>G (p.Leu5713Val) c.38632C>G (p.Leu12878Val) c.38629C>G (p.Leu12877Val) c.38062C>G (p.Leu12688Val) c.35404C>G (p.Leu11802Val) c.35323C>G (p.Leu11775Val) c.17086C>G (p.Leu5696Val) c.6940C>G (p.Leu2314Val) | |
| 2 | g.178630331G= | CA1310555931 | TTN | c.36487C= (p.Leu12163=) c.17572C= (p.Leu5858=) c.17371C= (p.Leu5791=) c.16996C= (p.Leu5666=) c.44191C= (p.Leu14731=) c.39268C= (p.Leu13090=) c.43288C= (p.Leu14430=) c.17182C= (p.Leu5728=) c.17041C= (p.Leu5681=) c.43084C= (p.Leu14362=) c.38482C= (p.Leu12828=) c.38479C= (p.Leu12827=) c.35521C= (p.Leu11841=) c.17137C= (p.Leu5713=) c.38632C= (p.Leu12878=) c.38629C= (p.Leu12877=) c.38062C= (p.Leu12688=) c.35404C= (p.Leu11802=) c.35323C= (p.Leu11775=) c.17086C= (p.Leu5696=) c.6940C= (p.Leu2314=) | |
| 2 | g.178630331G>T | CA349645638 | TTN | c.36487C>A (p.Leu12163Ile) c.17572C>A (p.Leu5858Ile) c.17371C>A (p.Leu5791Ile) c.16996C>A (p.Leu5666Ile) c.44191C>A (p.Leu14731Ile) c.39268C>A (p.Leu13090Ile) c.43288C>A (p.Leu14430Ile) c.17182C>A (p.Leu5728Ile) c.17041C>A (p.Leu5681Ile) c.43084C>A (p.Leu14362Ile) c.38482C>A (p.Leu12828Ile) c.38479C>A (p.Leu12827Ile) c.35521C>A (p.Leu11841Ile) c.17137C>A (p.Leu5713Ile) c.38632C>A (p.Leu12878Ile) c.38629C>A (p.Leu12877Ile) c.38062C>A (p.Leu12688Ile) c.35404C>A (p.Leu11802Ile) c.35323C>A (p.Leu11775Ile) c.17086C>A (p.Leu5696Ile) c.6940C>A (p.Leu2314Ile) | |
| 2 | g.178630332G>A | CA61001001 | TTN | c.36486C>T (p.Ser12162=) c.17571C>T (p.Ser5857=) c.17370C>T (p.Ser5790=) c.16995C>T (p.Ser5665=) c.44190C>T (p.Ser14730=) c.39267C>T (p.Ser13089=) c.43287C>T (p.Ser14429=) c.17181C>T (p.Ser5727=) c.17040C>T (p.Ser5680=) c.43083C>T (p.Ser14361=) c.38481C>T (p.Ser12827=) c.38478C>T (p.Ser12826=) c.35520C>T (p.Ser11840=) c.17136C>T (p.Ser5712=) c.38631C>T (p.Ser12877=) c.38628C>T (p.Ser12876=) c.38061C>T (p.Ser12687=) c.35403C>T (p.Ser11801=) c.35322C>T (p.Ser11774=) c.17085C>T (p.Ser5695=) c.6939C>T (p.Ser2313=) | dbSNP COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178630332G>C | CA430113580 | TTN | c.36486C>G (p.Ser12162=) c.17571C>G (p.Ser5857=) c.17370C>G (p.Ser5790=) c.16995C>G (p.Ser5665=) c.44190C>G (p.Ser14730=) c.39267C>G (p.Ser13089=) c.43287C>G (p.Ser14429=) c.17181C>G (p.Ser5727=) c.17040C>G (p.Ser5680=) c.43083C>G (p.Ser14361=) c.38481C>G (p.Ser12827=) c.38478C>G (p.Ser12826=) c.35520C>G (p.Ser11840=) c.17136C>G (p.Ser5712=) c.38631C>G (p.Ser12877=) c.38628C>G (p.Ser12876=) c.38061C>G (p.Ser12687=) c.35403C>G (p.Ser11801=) c.35322C>G (p.Ser11774=) c.17085C>G (p.Ser5695=) c.6939C>G (p.Ser2313=) | |
| 2 | g.178630332G= | CA1310555932 | TTN | c.36486C= (p.Ser12162=) c.17571C= (p.Ser5857=) c.17370C= (p.Ser5790=) c.16995C= (p.Ser5665=) c.44190C= (p.Ser14730=) c.39267C= (p.Ser13089=) c.43287C= (p.Ser14429=) c.17181C= (p.Ser5727=) c.17040C= (p.Ser5680=) c.43083C= (p.Ser14361=) c.38481C= (p.Ser12827=) c.38478C= (p.Ser12826=) c.35520C= (p.Ser11840=) c.17136C= (p.Ser5712=) c.38631C= (p.Ser12877=) c.38628C= (p.Ser12876=) c.38061C= (p.Ser12687=) c.35403C= (p.Ser11801=) c.35322C= (p.Ser11774=) c.17085C= (p.Ser5695=) c.6939C= (p.Ser2313=) | |
| 2 | g.178630332G>T | CA430113581 | TTN | c.36486C>A (p.Ser12162=) c.17571C>A (p.Ser5857=) c.17370C>A (p.Ser5790=) c.16995C>A (p.Ser5665=) c.44190C>A (p.Ser14730=) c.39267C>A (p.Ser13089=) c.43287C>A (p.Ser14429=) c.17181C>A (p.Ser5727=) c.17040C>A (p.Ser5680=) c.43083C>A (p.Ser14361=) c.38481C>A (p.Ser12827=) c.38478C>A (p.Ser12826=) c.35520C>A (p.Ser11840=) c.17136C>A (p.Ser5712=) c.38631C>A (p.Ser12877=) c.38628C>A (p.Ser12876=) c.38061C>A (p.Ser12687=) c.35403C>A (p.Ser11801=) c.35322C>A (p.Ser11774=) c.17085C>A (p.Ser5695=) c.6939C>A (p.Ser2313=) | |
| 2 | g.178630333G>A | CA349645641 | TTN | c.36485C>T (p.Ser12162Phe) c.17570C>T (p.Ser5857Phe) c.17369C>T (p.Ser5790Phe) c.16994C>T (p.Ser5665Phe) c.44189C>T (p.Ser14730Phe) c.39266C>T (p.Ser13089Phe) c.43286C>T (p.Ser14429Phe) c.17180C>T (p.Ser5727Phe) c.17039C>T (p.Ser5680Phe) c.43082C>T (p.Ser14361Phe) c.38480C>T (p.Ser12827Phe) c.38477C>T (p.Ser12826Phe) c.35519C>T (p.Ser11840Phe) c.17135C>T (p.Ser5712Phe) c.38630C>T (p.Ser12877Phe) c.38627C>T (p.Ser12876Phe) c.38060C>T (p.Ser12687Phe) c.35402C>T (p.Ser11801Phe) c.35321C>T (p.Ser11774Phe) c.17084C>T (p.Ser5695Phe) c.6938C>T (p.Ser2313Phe) | gnomAD v4 |
| 2 | g.178630333G>C | CA349645644 | TTN | c.36485C>G (p.Ser12162Cys) c.17570C>G (p.Ser5857Cys) c.17369C>G (p.Ser5790Cys) c.16994C>G (p.Ser5665Cys) c.44189C>G (p.Ser14730Cys) c.39266C>G (p.Ser13089Cys) c.43286C>G (p.Ser14429Cys) c.17180C>G (p.Ser5727Cys) c.17039C>G (p.Ser5680Cys) c.43082C>G (p.Ser14361Cys) c.38480C>G (p.Ser12827Cys) c.38477C>G (p.Ser12826Cys) c.35519C>G (p.Ser11840Cys) c.17135C>G (p.Ser5712Cys) c.38630C>G (p.Ser12877Cys) c.38627C>G (p.Ser12876Cys) c.38060C>G (p.Ser12687Cys) c.35402C>G (p.Ser11801Cys) c.35321C>G (p.Ser11774Cys) c.17084C>G (p.Ser5695Cys) c.6938C>G (p.Ser2313Cys) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178630333G>T | CA349645642 | TTN | c.36485C>A (p.Ser12162Tyr) c.17570C>A (p.Ser5857Tyr) c.17369C>A (p.Ser5790Tyr) c.16994C>A (p.Ser5665Tyr) c.44189C>A (p.Ser14730Tyr) c.39266C>A (p.Ser13089Tyr) c.43286C>A (p.Ser14429Tyr) c.17180C>A (p.Ser5727Tyr) c.17039C>A (p.Ser5680Tyr) c.43082C>A (p.Ser14361Tyr) c.38480C>A (p.Ser12827Tyr) c.38477C>A (p.Ser12826Tyr) c.35519C>A (p.Ser11840Tyr) c.17135C>A (p.Ser5712Tyr) c.38630C>A (p.Ser12877Tyr) c.38627C>A (p.Ser12876Tyr) c.38060C>A (p.Ser12687Tyr) c.35402C>A (p.Ser11801Tyr) c.35321C>A (p.Ser11774Tyr) c.17084C>A (p.Ser5695Tyr) c.6938C>A (p.Ser2313Tyr) | |
| 2 | g.178630334A>C | CA349645647 | TTN | c.36484T>G (p.Ser12162Ala) c.17569T>G (p.Ser5857Ala) c.17368T>G (p.Ser5790Ala) c.16993T>G (p.Ser5665Ala) c.44188T>G (p.Ser14730Ala) c.39265T>G (p.Ser13089Ala) c.43285T>G (p.Ser14429Ala) c.17179T>G (p.Ser5727Ala) c.17038T>G (p.Ser5680Ala) c.43081T>G (p.Ser14361Ala) c.38479T>G (p.Ser12827Ala) c.38476T>G (p.Ser12826Ala) c.35518T>G (p.Ser11840Ala) c.17134T>G (p.Ser5712Ala) c.38629T>G (p.Ser12877Ala) c.38626T>G (p.Ser12876Ala) c.38059T>G (p.Ser12687Ala) c.35401T>G (p.Ser11801Ala) c.35320T>G (p.Ser11774Ala) c.17083T>G (p.Ser5695Ala) c.6937T>G (p.Ser2313Ala) | |
| 2 | g.178630334A>G | CA349645650 | TTN | c.36484T>C (p.Ser12162Pro) c.17569T>C (p.Ser5857Pro) c.17368T>C (p.Ser5790Pro) c.16993T>C (p.Ser5665Pro) c.44188T>C (p.Ser14730Pro) c.39265T>C (p.Ser13089Pro) c.43285T>C (p.Ser14429Pro) c.17179T>C (p.Ser5727Pro) c.17038T>C (p.Ser5680Pro) c.43081T>C (p.Ser14361Pro) c.38479T>C (p.Ser12827Pro) c.38476T>C (p.Ser12826Pro) c.35518T>C (p.Ser11840Pro) c.17134T>C (p.Ser5712Pro) c.38629T>C (p.Ser12877Pro) c.38626T>C (p.Ser12876Pro) c.38059T>C (p.Ser12687Pro) c.35401T>C (p.Ser11801Pro) c.35320T>C (p.Ser11774Pro) c.17083T>C (p.Ser5695Pro) c.6937T>C (p.Ser2313Pro) | |
| 2 | g.178630334A>T | CA349645653 | TTN | c.36484T>A (p.Ser12162Thr) c.17569T>A (p.Ser5857Thr) c.17368T>A (p.Ser5790Thr) c.16993T>A (p.Ser5665Thr) c.44188T>A (p.Ser14730Thr) c.39265T>A (p.Ser13089Thr) c.43285T>A (p.Ser14429Thr) c.17179T>A (p.Ser5727Thr) c.17038T>A (p.Ser5680Thr) c.43081T>A (p.Ser14361Thr) c.38479T>A (p.Ser12827Thr) c.38476T>A (p.Ser12826Thr) c.35518T>A (p.Ser11840Thr) c.17134T>A (p.Ser5712Thr) c.38629T>A (p.Ser12877Thr) c.38626T>A (p.Ser12876Thr) c.38059T>A (p.Ser12687Thr) c.35401T>A (p.Ser11801Thr) c.35320T>A (p.Ser11774Thr) c.17083T>A (p.Ser5695Thr) c.6937T>A (p.Ser2313Thr) | COSMIC COSMIC COSMIC COSMIC |