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 |
|---|---|---|---|---|---|
| 19 | g.55153811_55153812insAGCAGAGACTCCATCTCAAAAAAAAAAAAAAGGAAATTTAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGAC | CA997255951 | TNNI3 | c.549+274_549+275insAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTCCAGGTGCAGTGGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTT (n.549+274_549+275insAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTCCAGGTGCAGTGGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTT) c.582+274_582+275insAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTCCAGGTGCAGTGGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTT (n.582+274_582+275insAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTCCAGGTGCAGTGGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTT) n.548+274_548+275insAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTCCAGGTGCAGTGGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTT c.474+274_474+275insAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTCCAGGTGCAGTGGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTT (n.474+274_474+275insAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTCCAGGTGCAGTGGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTT) n.377+274_377+275insAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTCCAGGTGCAGTGGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTT | gnomAD v3 gnomAD v4 |
| 19 | g.55153802G>A | CA997261287 | TNNI3 | c.549+228C>T (n.549+228C>T) c.582+228C>T (n.582+228C>T) n.548+228C>T c.474+228C>T (n.474+228C>T) n.377+228C>T | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.55153802G>C | CA997261288 | TNNI3 | c.549+228C>G (n.549+228C>G) c.582+228C>G (n.582+228C>G) n.548+228C>G c.474+228C>G (n.474+228C>G) n.377+228C>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.55153802G= | CA2343273599 | TNNI3 | c.549+228C= (n.549+228C=) c.582+228C= (n.582+228C=) n.548+228C= c.474+228C= (n.474+228C=) n.377+228C= | |
| 19 | g.55153802G>T | CA997261289 | TNNI3 | c.549+228C>A (n.549+228C>A) c.582+228C>A (n.582+228C>A) n.548+228C>A c.474+228C>A (n.474+228C>A) n.377+228C>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.55153803C>A | CA997261291 | TNNI3 | c.549+227G>T (n.549+227G>T) c.582+227G>T (n.582+227G>T) n.548+227G>T c.474+227G>T (n.474+227G>T) n.377+227G>T | gnomAD v3 gnomAD v4 |
| 19 | g.55153803C= | CA2343273600 | TNNI3 | c.549+227G= (n.549+227G=) c.582+227G= (n.582+227G=) n.548+227G= c.474+227G= (n.474+227G=) n.377+227G= | |
| 19 | g.55153803C>T | CA997261292 | TNNI3 | c.549+227G>A (n.549+227G>A) c.582+227G>A (n.582+227G>A) n.548+227G>A c.474+227G>A (n.474+227G>A) n.377+227G>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.55153804A= | CA2343273601 | TNNI3 | c.549+226T= (n.549+226T=) c.582+226T= (n.582+226T=) n.548+226T= c.474+226T= (n.474+226T=) n.377+226T= | |
| 19 | g.55153804A>C | CA883721822 | TNNI3 | c.549+226T>G (n.549+226T>G) c.582+226T>G (n.582+226T>G) n.548+226T>G c.474+226T>G (n.474+226T>G) n.377+226T>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.55153805C>A | CA997261293 | TNNI3 | c.549+225G>T (n.549+225G>T) c.582+225G>T (n.582+225G>T) n.548+225G>T c.474+225G>T (n.474+225G>T) n.377+225G>T | gnomAD v3 gnomAD v4 |
| 19 | g.55153805C= | CA2343273602 | TNNI3 | c.549+225G= (n.549+225G=) c.582+225G= (n.582+225G=) n.548+225G= c.474+225G= (n.474+225G=) n.377+225G= | |
| 19 | g.55153805C>T | CA310146109 | TNNI3 | c.549+225G>A (n.549+225G>A) c.582+225G>A (n.582+225G>A) n.548+225G>A c.474+225G>A (n.474+225G>A) n.377+225G>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.55153806C>A | CA997261295 | TNNI3 | c.549+224G>T (n.549+224G>T) c.582+224G>T (n.582+224G>T) n.548+224G>T c.474+224G>T (n.474+224G>T) n.377+224G>T | gnomAD v3 gnomAD v4 |
| 19 | g.55153806C= | CA2343273604 | TNNI3 | c.549+224G= (n.549+224G=) c.582+224G= (n.582+224G=) n.548+224G= c.474+224G= (n.474+224G=) n.377+224G= | |
| 19 | g.55153806C>G | CA2343273603 | TNNI3 | c.549+224G>C (n.549+224G>C) c.582+224G>C (n.582+224G>C) n.548+224G>C c.474+224G>C (n.474+224G>C) n.377+224G>C | dbSNP |
| 19 | g.55153808G>T | CA997261298 | TNNI3 | c.549+222C>A (n.549+222C>A) c.582+222C>A (n.582+222C>A) n.548+222C>A c.474+222C>A (n.474+222C>A) n.377+222C>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.55153809G>A | CA2539704882 | TNNI3 | c.549+221C>T (n.549+221C>T) c.582+221C>T (n.582+221C>T) n.548+221C>T c.474+221C>T (n.474+221C>T) n.377+221C>T | |
| 19 | g.55153809G>C | CA997261299 | TNNI3 | c.549+221C>G (n.549+221C>G) c.582+221C>G (n.582+221C>G) n.548+221C>G c.474+221C>G (n.474+221C>G) n.377+221C>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.55153809G>T | CA997261301 | TNNI3 | c.549+221C>A (n.549+221C>A) c.582+221C>A (n.582+221C>A) n.548+221C>A c.474+221C>A (n.474+221C>A) n.377+221C>A | gnomAD v3 gnomAD v4 |
| 19 | g.55153811_55153812insAGCAGAGACTCCATCTCAAAAAAAAAAAAAAGGAAATTTAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTTCACCTTGAC | CA2507690889 | TNNI3 | c.549+221_549+222insAAGGTGAAGTGGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTC (n.549+221_549+222insAAGGTGAAGTGGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTC) c.582+221_582+222insAAGGTGAAGTGGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTC (n.582+221_582+222insAAGGTGAAGTGGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTC) n.548+221_548+222insAAGGTGAAGTGGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTC c.474+221_474+222insAAGGTGAAGTGGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTC (n.474+221_474+222insAAGGTGAAGTGGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTC) n.377+221_377+222insAAGGTGAAGTGGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTGTC | |
| 19 | g.55153810A= | CA2343273605 | TNNI3 | c.549+220T= (n.549+220T=) c.582+220T= (n.582+220T=) n.548+220T= c.474+220T= (n.474+220T=) n.377+220T= | |
| 19 | g.55153810A>C | CA997261303 | TNNI3 | c.549+220T>G (n.549+220T>G) c.582+220T>G (n.582+220T>G) n.548+220T>G c.474+220T>G (n.474+220T>G) n.377+220T>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.55153810A>G | CA883721828 | TNNI3 | c.549+220T>C (n.549+220T>C) c.582+220T>C (n.582+220T>C) n.548+220T>C c.474+220T>C (n.474+220T>C) n.377+220T>C | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.55153810A>T | CA2814881290 | TNNI3 | c.549+220T>A (n.549+220T>A) c.582+220T>A (n.582+220T>A) n.548+220T>A c.474+220T>A (n.474+220T>A) n.377+220T>A | |
| 19 | g.55153811C>A | CA997261304 | TNNI3 | c.549+219G>T (n.549+219G>T) c.582+219G>T (n.582+219G>T) n.548+219G>T c.474+219G>T (n.474+219G>T) n.377+219G>T | gnomAD v3 gnomAD v4 |
| 19 | g.55153811C= | CA2343273606 | TNNI3 | c.549+219G= (n.549+219G=) c.582+219G= (n.582+219G=) n.548+219G= c.474+219G= (n.474+219G=) n.377+219G= | |
| 19 | g.55153811_55153812insAGCAGAGACTCCATCTCAAAAAAAAAAAAAAGGAAATTTAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACCGCACCTTCCC | CA2521268278 | TNNI3 | c.549+219_549+220insGGAAGGTGCGGTGGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTG (n.549+219_549+220insGGAAGGTGCGGTGGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTG) c.582+219_582+220insGGAAGGTGCGGTGGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTG (n.582+219_582+220insGGAAGGTGCGGTGGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTG) n.548+219_548+220insGGAAGGTGCGGTGGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTG c.474+219_474+220insGGAAGGTGCGGTGGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTG (n.474+219_474+220insGGAAGGTGCGGTGGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTG) n.377+219_377+220insGGAAGGTGCGGTGGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTG | |
| 19 | g.55153811_55153812insAGCAGAGACTCCATCTCAAAAAAAAAAAAAAGGAAATTTAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAACCACTGCACCTTGTC | CA2814881292 | TNNI3 | c.549+219_549+220insACAAGGTGCAGTGGTTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTG (n.549+219_549+220insACAAGGTGCAGTGGTTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTG) c.582+219_582+220insACAAGGTGCAGTGGTTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTG (n.582+219_582+220insACAAGGTGCAGTGGTTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTG) n.548+219_548+220insACAAGGTGCAGTGGTTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTG c.474+219_474+220insACAAGGTGCAGTGGTTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTG (n.474+219_474+220insACAAGGTGCAGTGGTTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTG) n.377+219_377+220insACAAGGTGCAGTGGTTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTAAATTTCCTTTTTTTTTTTTTTGAGATGGAGTCTCTGCTG | |
| 19 | g.55153811_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 | CA1139635023 | TNNI3 | c.549+219_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 (n.549+219_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) c.582+219_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 (n.582+219_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) n.548+219_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 c.474+219_474+220insCACCCACACCCCACCCACCACAACCCCCCCCCACAACCCCCACGACCCCCCACCCCAACCAACCCCCCCCCCCCCCCCCCACCCACACACCCCACCCCCCCCCCCCCCCCCTCCCCCCCCCCCCCCACCCCACCCCACCCCCACCCCCCCCCCCCCCCCCCCCCCACACACCACCCCCCCCCCCCCCCCCCCCCCCCCTCCCCTCCCAACCCCCCCACCACCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCACCAACCACCCCACCCCCCCGCCACCCCCCCACATCACCACAACCCACCAACCCACCCCCACCCGCACCACCACCCCCCCCCACCACCGCCCACCCCCCCCCCCCCACACCCTACCCCCCCCACCCCCACCCAAACCCCACACCCACCACCCCCACCCCACCCCCCACCCCCCCCACCACCCCACACCCCCCCCCCCCCCAAGCCACCCACCCCCACCCCCCCCACCAACACCCCCACACCCCCACACCCACCCCG (n.474+219_474+220insCACCCACACCCCACCCACCACAACCCCCCCCCACAACCCCCACGACCCCCCACCCCAACCAACCCCCCCCCCCCCCCCCCACCCACACACCCCACCCCCCCCCCCCCCCCCTCCCCCCCCCCCCCCACCCCACCCCACCCCCACCCCCCCCCCCCCCCCCCCCCCACACACCACCCCCCCCCCCCCCCCCCCCCCCCCTCCCCTCCCAACCCCCCCACCACCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCACCAACCACCCCACCCCCCCGCCACCCCCCCACATCACCACAACCCACCAACCCACCCCCACCCGCACCACCACCCCCCCCCACCACCGCCCACCCCCCCCCCCCCACACCCTACCCCCCCCACCCCCACCCAAACCCCACACCCACCACCCCCACCCCACCCCCCACCCCCCCCACCACCCCACACCCCCCCCCCCCCCAAGCCACCCACCCCCACCCCCCCCACCAACACCCCCACACCCCCACACCCACCCCG) n.377+219_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 | |
| 19 | g.55153811_55153812insAG | CA997261307 | TNNI3 | c.549+218_549+219insCT (n.549+218_549+219insCT) c.582+218_582+219insCT (n.582+218_582+219insCT) n.548+218_548+219insCT c.474+218_474+219insCT (n.474+218_474+219insCT) n.377+218_377+219insCT | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.55153811_55153812insAGCAGAGA | CA633870746 | TNNI3 | c.549+218_549+219insTCTCTGCT (n.549+218_549+219insTCTCTGCT) c.582+218_582+219insTCTCTGCT (n.582+218_582+219insTCTCTGCT) n.548+218_548+219insTCTCTGCT c.474+218_474+219insTCTCTGCT (n.474+218_474+219insTCTCTGCT) n.377+218_377+219insTCTCTGCT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.55153811_55153812insAGCAGAGACT | CA997261309 | TNNI3 | c.549+218_549+219insAGTCTCTGCT (n.549+218_549+219insAGTCTCTGCT) c.582+218_582+219insAGTCTCTGCT (n.582+218_582+219insAGTCTCTGCT) n.548+218_548+219insAGTCTCTGCT c.474+218_474+219insAGTCTCTGCT (n.474+218_474+219insAGTCTCTGCT) n.377+218_377+219insAGTCTCTGCT | gnomAD v3 gnomAD v4 |
| 19 | g.55153812C>A | CA997261308 | TNNI3 | c.549+218G>T (n.549+218G>T) c.582+218G>T (n.582+218G>T) n.548+218G>T c.474+218G>T (n.474+218G>T) n.377+218G>T | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.55153812C= | CA2343273607 | TNNI3 | c.549+218G= (n.549+218G=) c.582+218G= (n.582+218G=) n.548+218G= c.474+218G= (n.474+218G=) n.377+218G= | |
| 19 | g.55153812C>T | CA310146113 | TNNI3 | c.549+218G>A (n.549+218G>A) c.582+218G>A (n.582+218G>A) n.548+218G>A c.474+218G>A (n.474+218G>A) n.377+218G>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.55153812_55153813insAGAGACCCCATCTAAAAAAAAAAAAAAAGGAAATTACAAAAAAATTTTT | CA2736113995 | TNNI3 | c.549+217_549+218insAAAAATTTTTTTGTAATTTCCTTTTTTTTTTTTTTTAGATGGGGTCTCT (n.549+217_549+218insAAAAATTTTTTTGTAATTTCCTTTTTTTTTTTTTTTAGATGGGGTCTCT) c.582+217_582+218insAAAAATTTTTTTGTAATTTCCTTTTTTTTTTTTTTTAGATGGGGTCTCT (n.582+217_582+218insAAAAATTTTTTTGTAATTTCCTTTTTTTTTTTTTTTAGATGGGGTCTCT) n.548+217_548+218insAAAAATTTTTTTGTAATTTCCTTTTTTTTTTTTTTTAGATGGGGTCTCT c.474+217_474+218insAAAAATTTTTTTGTAATTTCCTTTTTTTTTTTTTTTAGATGGGGTCTCT (n.474+217_474+218insAAAAATTTTTTTGTAATTTCCTTTTTTTTTTTTTTTAGATGGGGTCTCT) n.377+217_377+218insAAAAATTTTTTTGTAATTTCCTTTTTTTTTTTTTTTAGATGGGGTCTCT | dbSNP |
| 19 | g.55153813T>C | CA997261310 | TNNI3 | c.549+217A>G (n.549+217A>G) c.582+217A>G (n.582+217A>G) n.548+217A>G c.474+217A>G (n.474+217A>G) n.377+217A>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.55153813_55153814insCCATC | CA997261311 | TNNI3 | c.549+216_549+217insGATGG (n.549+216_549+217insGATGG) c.582+216_582+217insGATGG (n.582+216_582+217insGATGG) n.548+216_548+217insGATGG c.474+216_474+217insGATGG (n.474+216_474+217insGATGG) n.377+216_377+217insGATGG | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.55153813_55153814insCCATCTCAAAAAAAAAAAAAAGGAAATTTAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGTCCG | CA2814881293 | TNNI3 | c.549+216_549+217insCGGACCAGGTGCAGTGGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTAAATTTCCTTTTTTTTTTTTTTGAGATGG (n.549+216_549+217insCGGACCAGGTGCAGTGGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTAAATTTCCTTTTTTTTTTTTTTGAGATGG) c.582+216_582+217insCGGACCAGGTGCAGTGGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTAAATTTCCTTTTTTTTTTTTTTGAGATGG (n.582+216_582+217insCGGACCAGGTGCAGTGGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTAAATTTCCTTTTTTTTTTTTTTGAGATGG) n.548+216_548+217insCGGACCAGGTGCAGTGGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTAAATTTCCTTTTTTTTTTTTTTGAGATGG c.474+216_474+217insCGGACCAGGTGCAGTGGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTAAATTTCCTTTTTTTTTTTTTTGAGATGG (n.474+216_474+217insCGGACCAGGTGCAGTGGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTAAATTTCCTTTTTTTTTTTTTTGAGATGG) n.377+216_377+217insCGGACCAGGTGCAGTGGCTTATGCCTGTAATCTTTGAGGTTTAAAAAAAATTTTTTTTAAATTTCCTTTTTTTTTTTTTTGAGATGG | |
| 19 | g.55153814T>A | CA2814881294 | TNNI3 | c.549+216A>T (n.549+216A>T) c.582+216A>T (n.582+216A>T) n.548+216A>T c.474+216A>T (n.474+216A>T) n.377+216A>T | |
| 19 | g.55153814T>C | CA633870748 | TNNI3 | c.549+216A>G (n.549+216A>G) c.582+216A>G (n.582+216A>G) n.548+216A>G c.474+216A>G (n.474+216A>G) n.377+216A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.55153814T>G | CA997261312 | TNNI3 | c.549+216A>C (n.549+216A>C) c.582+216A>C (n.582+216A>C) n.548+216A>C c.474+216A>C (n.474+216A>C) n.377+216A>C | gnomAD v3 gnomAD v4 |
| 19 | g.55153814T= | CA2343273608 | TNNI3 | c.549+216A= (n.549+216A=) c.582+216A= (n.582+216A=) n.548+216A= c.474+216A= (n.474+216A=) n.377+216A= | |
| 19 | g.55153815C>A | CA2814881295 | TNNI3 | c.549+215G>T (n.549+215G>T) c.582+215G>T (n.582+215G>T) n.548+215G>T c.474+215G>T (n.474+215G>T) n.377+215G>T | |
| 19 | g.55153815C>G | CA997261313 | TNNI3 | c.549+215G>C (n.549+215G>C) c.582+215G>C (n.582+215G>C) n.548+215G>C c.474+215G>C (n.474+215G>C) n.377+215G>C | gnomAD v3 gnomAD v4 |
| 19 | g.55153815C>T | CA997261314 | TNNI3 | c.549+215G>A (n.549+215G>A) c.582+215G>A (n.582+215G>A) n.548+215G>A c.474+215G>A (n.474+215G>A) n.377+215G>A | gnomAD v3 gnomAD v4 |
| 19 | g.55153816A>C | CA997261316 | TNNI3 | c.549+214T>G (n.549+214T>G) c.582+214T>G (n.582+214T>G) n.548+214T>G c.474+214T>G (n.474+214T>G) n.377+214T>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.55153816A>T | CA997261318 | TNNI3 | c.549+214T>A (n.549+214T>A) c.582+214T>A (n.582+214T>A) n.548+214T>A c.474+214T>A (n.474+214T>A) n.377+214T>A | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.55153816_55153817insCC | CA2736114057 | TNNI3 | c.549+213_549+214insGG (n.549+213_549+214insGG) c.582+213_582+214insGG (n.582+213_582+214insGG) n.548+213_548+214insGG c.474+213_474+214insGG (n.474+213_474+214insGG) n.377+213_377+214insGG | dbSNP |