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.178580323A= | CA1310535264 | TTN,TTN-AS1 | c.59352T= (p.Leu19784=) c.40437T= (p.Leu13479=) c.40236T= (p.Leu13412=) c.39861T= (p.Leu13287=) c.67056T= (p.Leu22352=) c.62133T= (p.Leu20711=) n.596+8874A= n.2044-2249A= c.66153T= (p.Leu22051=) c.40047T= (p.Leu13349=) c.39906T= (p.Leu13302=) c.65949T= (p.Leu21983=) c.61347T= (p.Leu20449=) c.61344T= (p.Leu20448=) c.58386T= (p.Leu19462=) c.40002T= (p.Leu13334=) c.61497T= (p.Leu20499=) c.61494T= (p.Leu20498=) c.60927T= (p.Leu20309=) c.58269T= (p.Leu19423=) c.58188T= (p.Leu19396=) c.39951T= (p.Leu13317=) c.29805T= (p.Leu9935=) | |
| 2 | g.178580323A>C | CA430262336 | TTN,TTN-AS1 | c.59352T>G (p.Leu19784=) c.40437T>G (p.Leu13479=) c.40236T>G (p.Leu13412=) c.39861T>G (p.Leu13287=) c.67056T>G (p.Leu22352=) c.62133T>G (p.Leu20711=) n.596+8874A>C n.2044-2249A>C c.66153T>G (p.Leu22051=) c.40047T>G (p.Leu13349=) c.39906T>G (p.Leu13302=) c.65949T>G (p.Leu21983=) c.61347T>G (p.Leu20449=) c.61344T>G (p.Leu20448=) c.58386T>G (p.Leu19462=) c.40002T>G (p.Leu13334=) c.61497T>G (p.Leu20499=) c.61494T>G (p.Leu20498=) c.60927T>G (p.Leu20309=) c.58269T>G (p.Leu19423=) c.58188T>G (p.Leu19396=) c.39951T>G (p.Leu13317=) c.29805T>G (p.Leu9935=) | |
| 2 | g.178580323A>G | CA10613266 | TTN,TTN-AS1 | c.59352T>C (p.Leu19784=) c.40437T>C (p.Leu13479=) c.40236T>C (p.Leu13412=) c.39861T>C (p.Leu13287=) c.67056T>C (p.Leu22352=) c.62133T>C (p.Leu20711=) n.596+8874A>G n.2044-2249A>G c.66153T>C (p.Leu22051=) c.40047T>C (p.Leu13349=) c.39906T>C (p.Leu13302=) c.65949T>C (p.Leu21983=) c.61347T>C (p.Leu20449=) c.61344T>C (p.Leu20448=) c.58386T>C (p.Leu19462=) c.40002T>C (p.Leu13334=) c.61497T>C (p.Leu20499=) c.61494T>C (p.Leu20498=) c.60927T>C (p.Leu20309=) c.58269T>C (p.Leu19423=) c.58188T>C (p.Leu19396=) c.39951T>C (p.Leu13317=) c.29805T>C (p.Leu9935=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178580323A>T | CA430262337 | TTN,TTN-AS1 | c.59352T>A (p.Leu19784=) c.40437T>A (p.Leu13479=) c.40236T>A (p.Leu13412=) c.39861T>A (p.Leu13287=) c.67056T>A (p.Leu22352=) c.62133T>A (p.Leu20711=) n.596+8874A>T n.2044-2249A>T c.66153T>A (p.Leu22051=) c.40047T>A (p.Leu13349=) c.39906T>A (p.Leu13302=) c.65949T>A (p.Leu21983=) c.61347T>A (p.Leu20449=) c.61344T>A (p.Leu20448=) c.58386T>A (p.Leu19462=) c.40002T>A (p.Leu13334=) c.61497T>A (p.Leu20499=) c.61494T>A (p.Leu20498=) c.60927T>A (p.Leu20309=) c.58269T>A (p.Leu19423=) c.58188T>A (p.Leu19396=) c.39951T>A (p.Leu13317=) c.29805T>A (p.Leu9935=) | |
| 2 | g.178580324A>C | CA349424673 | TTN,TTN-AS1 | c.59351T>G (p.Leu19784Arg) c.40436T>G (p.Leu13479Arg) c.40235T>G (p.Leu13412Arg) c.39860T>G (p.Leu13287Arg) c.67055T>G (p.Leu22352Arg) c.62132T>G (p.Leu20711Arg) n.596+8875A>C n.2044-2248A>C c.66152T>G (p.Leu22051Arg) c.40046T>G (p.Leu13349Arg) c.39905T>G (p.Leu13302Arg) c.65948T>G (p.Leu21983Arg) c.61346T>G (p.Leu20449Arg) c.61343T>G (p.Leu20448Arg) c.58385T>G (p.Leu19462Arg) c.40001T>G (p.Leu13334Arg) c.61496T>G (p.Leu20499Arg) c.61493T>G (p.Leu20498Arg) c.60926T>G (p.Leu20309Arg) c.58268T>G (p.Leu19423Arg) c.58187T>G (p.Leu19396Arg) c.39950T>G (p.Leu13317Arg) c.29804T>G (p.Leu9935Arg) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178580324A>G | CA349424674 | TTN,TTN-AS1 | c.59351T>C (p.Leu19784Pro) c.40436T>C (p.Leu13479Pro) c.40235T>C (p.Leu13412Pro) c.39860T>C (p.Leu13287Pro) c.67055T>C (p.Leu22352Pro) c.62132T>C (p.Leu20711Pro) n.596+8875A>G n.2044-2248A>G c.66152T>C (p.Leu22051Pro) c.40046T>C (p.Leu13349Pro) c.39905T>C (p.Leu13302Pro) c.65948T>C (p.Leu21983Pro) c.61346T>C (p.Leu20449Pro) c.61343T>C (p.Leu20448Pro) c.58385T>C (p.Leu19462Pro) c.40001T>C (p.Leu13334Pro) c.61496T>C (p.Leu20499Pro) c.61493T>C (p.Leu20498Pro) c.60926T>C (p.Leu20309Pro) c.58268T>C (p.Leu19423Pro) c.58187T>C (p.Leu19396Pro) c.39950T>C (p.Leu13317Pro) c.29804T>C (p.Leu9935Pro) | |
| 2 | g.178580324A>T | CA349424675 | TTN,TTN-AS1 | c.59351T>A (p.Leu19784His) c.40436T>A (p.Leu13479His) c.40235T>A (p.Leu13412His) c.39860T>A (p.Leu13287His) c.67055T>A (p.Leu22352His) c.62132T>A (p.Leu20711His) n.596+8875A>T n.2044-2248A>T c.66152T>A (p.Leu22051His) c.40046T>A (p.Leu13349His) c.39905T>A (p.Leu13302His) c.65948T>A (p.Leu21983His) c.61346T>A (p.Leu20449His) c.61343T>A (p.Leu20448His) c.58385T>A (p.Leu19462His) c.40001T>A (p.Leu13334His) c.61496T>A (p.Leu20499His) c.61493T>A (p.Leu20498His) c.60926T>A (p.Leu20309His) c.58268T>A (p.Leu19423His) c.58187T>A (p.Leu19396His) c.39950T>A (p.Leu13317His) c.29804T>A (p.Leu9935His) | |
| 2 | g.178580325G>A | CA349424676 | TTN,TTN-AS1 | c.59350C>T (p.Leu19784Phe) c.40435C>T (p.Leu13479Phe) c.40234C>T (p.Leu13412Phe) c.39859C>T (p.Leu13287Phe) c.67054C>T (p.Leu22352Phe) c.62131C>T (p.Leu20711Phe) n.596+8876G>A n.2044-2247G>A c.66151C>T (p.Leu22051Phe) c.40045C>T (p.Leu13349Phe) c.39904C>T (p.Leu13302Phe) c.65947C>T (p.Leu21983Phe) c.61345C>T (p.Leu20449Phe) c.61342C>T (p.Leu20448Phe) c.58384C>T (p.Leu19462Phe) c.40000C>T (p.Leu13334Phe) c.61495C>T (p.Leu20499Phe) c.61492C>T (p.Leu20498Phe) c.60925C>T (p.Leu20309Phe) c.58267C>T (p.Leu19423Phe) c.58186C>T (p.Leu19396Phe) c.39949C>T (p.Leu13317Phe) c.29803C>T (p.Leu9935Phe) | ClinVar |
| 2 | g.178580325G>C | CA349424677 | TTN,TTN-AS1 | c.59350C>G (p.Leu19784Val) c.40435C>G (p.Leu13479Val) c.40234C>G (p.Leu13412Val) c.39859C>G (p.Leu13287Val) c.67054C>G (p.Leu22352Val) c.62131C>G (p.Leu20711Val) n.596+8876G>C n.2044-2247G>C c.66151C>G (p.Leu22051Val) c.40045C>G (p.Leu13349Val) c.39904C>G (p.Leu13302Val) c.65947C>G (p.Leu21983Val) c.61345C>G (p.Leu20449Val) c.61342C>G (p.Leu20448Val) c.58384C>G (p.Leu19462Val) c.40000C>G (p.Leu13334Val) c.61495C>G (p.Leu20499Val) c.61492C>G (p.Leu20498Val) c.60925C>G (p.Leu20309Val) c.58267C>G (p.Leu19423Val) c.58186C>G (p.Leu19396Val) c.39949C>G (p.Leu13317Val) c.29803C>G (p.Leu9935Val) | |
| 2 | g.178580325G>T | CA349424678 | TTN,TTN-AS1 | c.59350C>A (p.Leu19784Ile) c.40435C>A (p.Leu13479Ile) c.40234C>A (p.Leu13412Ile) c.39859C>A (p.Leu13287Ile) c.67054C>A (p.Leu22352Ile) c.62131C>A (p.Leu20711Ile) n.596+8876G>T n.2044-2247G>T c.66151C>A (p.Leu22051Ile) c.40045C>A (p.Leu13349Ile) c.39904C>A (p.Leu13302Ile) c.65947C>A (p.Leu21983Ile) c.61345C>A (p.Leu20449Ile) c.61342C>A (p.Leu20448Ile) c.58384C>A (p.Leu19462Ile) c.40000C>A (p.Leu13334Ile) c.61495C>A (p.Leu20499Ile) c.61492C>A (p.Leu20498Ile) c.60925C>A (p.Leu20309Ile) c.58267C>A (p.Leu19423Ile) c.58186C>A (p.Leu19396Ile) c.39949C>A (p.Leu13317Ile) c.29803C>A (p.Leu9935Ile) | |
| 2 | g.178580326C>A | CA430262342 | TTN,TTN-AS1 | c.59349G>T (p.Val19783=) c.40434G>T (p.Val13478=) c.40233G>T (p.Val13411=) c.39858G>T (p.Val13286=) c.67053G>T (p.Val22351=) c.62130G>T (p.Val20710=) n.596+8877C>A n.2044-2246C>A c.66150G>T (p.Val22050=) c.40044G>T (p.Val13348=) c.39903G>T (p.Val13301=) c.65946G>T (p.Val21982=) c.61344G>T (p.Val20448=) c.61341G>T (p.Val20447=) c.58383G>T (p.Val19461=) c.39999G>T (p.Val13333=) c.61494G>T (p.Val20498=) c.61491G>T (p.Val20497=) c.60924G>T (p.Val20308=) c.58266G>T (p.Val19422=) c.58185G>T (p.Val19395=) c.39948G>T (p.Val13316=) c.29802G>T (p.Val9934=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178580326C= | CA1310535265 | TTN,TTN-AS1 | c.59349G= (p.Val19783=) c.40434G= (p.Val13478=) c.40233G= (p.Val13411=) c.39858G= (p.Val13286=) c.67053G= (p.Val22351=) c.62130G= (p.Val20710=) n.596+8877C= n.2044-2246C= c.66150G= (p.Val22050=) c.40044G= (p.Val13348=) c.39903G= (p.Val13301=) c.65946G= (p.Val21982=) c.61344G= (p.Val20448=) c.61341G= (p.Val20447=) c.58383G= (p.Val19461=) c.39999G= (p.Val13333=) c.61494G= (p.Val20498=) c.61491G= (p.Val20497=) c.60924G= (p.Val20308=) c.58266G= (p.Val19422=) c.58185G= (p.Val19395=) c.39948G= (p.Val13316=) c.29802G= (p.Val9934=) | |
| 2 | g.178580326C>G | CA430262343 | TTN,TTN-AS1 | c.59349G>C (p.Val19783=) c.40434G>C (p.Val13478=) c.40233G>C (p.Val13411=) c.39858G>C (p.Val13286=) c.67053G>C (p.Val22351=) c.62130G>C (p.Val20710=) n.596+8877C>G n.2044-2246C>G c.66150G>C (p.Val22050=) c.40044G>C (p.Val13348=) c.39903G>C (p.Val13301=) c.65946G>C (p.Val21982=) c.61344G>C (p.Val20448=) c.61341G>C (p.Val20447=) c.58383G>C (p.Val19461=) c.39999G>C (p.Val13333=) c.61494G>C (p.Val20498=) c.61491G>C (p.Val20497=) c.60924G>C (p.Val20308=) c.58266G>C (p.Val19422=) c.58185G>C (p.Val19395=) c.39948G>C (p.Val13316=) c.29802G>C (p.Val9934=) | |
| 2 | g.178580326C>T | CA10586800 | TTN,TTN-AS1 | c.59349G>A (p.Val19783=) c.40434G>A (p.Val13478=) c.40233G>A (p.Val13411=) c.39858G>A (p.Val13286=) c.67053G>A (p.Val22351=) c.62130G>A (p.Val20710=) n.596+8877C>T n.2044-2246C>T c.66150G>A (p.Val22050=) c.40044G>A (p.Val13348=) c.39903G>A (p.Val13301=) c.65946G>A (p.Val21982=) c.61344G>A (p.Val20448=) c.61341G>A (p.Val20447=) c.58383G>A (p.Val19461=) c.39999G>A (p.Val13333=) c.61494G>A (p.Val20498=) c.61491G>A (p.Val20497=) c.60924G>A (p.Val20308=) c.58266G>A (p.Val19422=) c.58185G>A (p.Val19395=) c.39948G>A (p.Val13316=) c.29802G>A (p.Val9934=) | ClinVar dbSNP gnomAD v2 |
| 2 | g.178580327A>C | CA349424689 | TTN,TTN-AS1 | c.59348T>G (p.Val19783Gly) c.40433T>G (p.Val13478Gly) c.40232T>G (p.Val13411Gly) c.39857T>G (p.Val13286Gly) c.67052T>G (p.Val22351Gly) c.62129T>G (p.Val20710Gly) n.596+8878A>C n.2044-2245A>C c.66149T>G (p.Val22050Gly) c.40043T>G (p.Val13348Gly) c.39902T>G (p.Val13301Gly) c.65945T>G (p.Val21982Gly) c.61343T>G (p.Val20448Gly) c.61340T>G (p.Val20447Gly) c.58382T>G (p.Val19461Gly) c.39998T>G (p.Val13333Gly) c.61493T>G (p.Val20498Gly) c.61490T>G (p.Val20497Gly) c.60923T>G (p.Val20308Gly) c.58265T>G (p.Val19422Gly) c.58184T>G (p.Val19395Gly) c.39947T>G (p.Val13316Gly) c.29801T>G (p.Val9934Gly) | |
| 2 | g.178580327A>G | CA349424691 | TTN,TTN-AS1 | c.59348T>C (p.Val19783Ala) c.40433T>C (p.Val13478Ala) c.40232T>C (p.Val13411Ala) c.39857T>C (p.Val13286Ala) c.67052T>C (p.Val22351Ala) c.62129T>C (p.Val20710Ala) n.596+8878A>G n.2044-2245A>G c.66149T>C (p.Val22050Ala) c.40043T>C (p.Val13348Ala) c.39902T>C (p.Val13301Ala) c.65945T>C (p.Val21982Ala) c.61343T>C (p.Val20448Ala) c.61340T>C (p.Val20447Ala) c.58382T>C (p.Val19461Ala) c.39998T>C (p.Val13333Ala) c.61493T>C (p.Val20498Ala) c.61490T>C (p.Val20497Ala) c.60923T>C (p.Val20308Ala) c.58265T>C (p.Val19422Ala) c.58184T>C (p.Val19395Ala) c.39947T>C (p.Val13316Ala) c.29801T>C (p.Val9934Ala) | |
| 2 | g.178580327A>T | CA349424693 | TTN,TTN-AS1 | c.59348T>A (p.Val19783Glu) c.40433T>A (p.Val13478Glu) c.40232T>A (p.Val13411Glu) c.39857T>A (p.Val13286Glu) c.67052T>A (p.Val22351Glu) c.62129T>A (p.Val20710Glu) n.596+8878A>T n.2044-2245A>T c.66149T>A (p.Val22050Glu) c.40043T>A (p.Val13348Glu) c.39902T>A (p.Val13301Glu) c.65945T>A (p.Val21982Glu) c.61343T>A (p.Val20448Glu) c.61340T>A (p.Val20447Glu) c.58382T>A (p.Val19461Glu) c.39998T>A (p.Val13333Glu) c.61493T>A (p.Val20498Glu) c.61490T>A (p.Val20497Glu) c.60923T>A (p.Val20308Glu) c.58265T>A (p.Val19422Glu) c.58184T>A (p.Val19395Glu) c.39947T>A (p.Val13316Glu) c.29801T>A (p.Val9934Glu) | |
| 2 | g.178580328C>A | CA1991384 | TTN,TTN-AS1 | c.59347G>T (p.Val19783Leu) c.40432G>T (p.Val13478Leu) c.40231G>T (p.Val13411Leu) c.39856G>T (p.Val13286Leu) c.67051G>T (p.Val22351Leu) c.62128G>T (p.Val20710Leu) n.596+8879C>A n.2044-2244C>A c.66148G>T (p.Val22050Leu) c.40042G>T (p.Val13348Leu) c.39901G>T (p.Val13301Leu) c.65944G>T (p.Val21982Leu) c.61342G>T (p.Val20448Leu) c.61339G>T (p.Val20447Leu) c.58381G>T (p.Val19461Leu) c.39997G>T (p.Val13333Leu) c.61492G>T (p.Val20498Leu) c.61489G>T (p.Val20497Leu) c.60922G>T (p.Val20308Leu) c.58264G>T (p.Val19422Leu) c.58183G>T (p.Val19395Leu) c.39946G>T (p.Val13316Leu) c.29800G>T (p.Val9934Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178580328C= | CA1310535266 | TTN,TTN-AS1 | c.59347G= (p.Val19783=) c.40432G= (p.Val13478=) c.40231G= (p.Val13411=) c.39856G= (p.Val13286=) c.67051G= (p.Val22351=) c.62128G= (p.Val20710=) n.596+8879C= n.2044-2244C= c.66148G= (p.Val22050=) c.40042G= (p.Val13348=) c.39901G= (p.Val13301=) c.65944G= (p.Val21982=) c.61342G= (p.Val20448=) c.61339G= (p.Val20447=) c.58381G= (p.Val19461=) c.39997G= (p.Val13333=) c.61492G= (p.Val20498=) c.61489G= (p.Val20497=) c.60922G= (p.Val20308=) c.58264G= (p.Val19422=) c.58183G= (p.Val19395=) c.39946G= (p.Val13316=) c.29800G= (p.Val9934=) | |
| 2 | g.178580328C>G | CA349424697 | TTN,TTN-AS1 | c.59347G>C (p.Val19783Leu) c.40432G>C (p.Val13478Leu) c.40231G>C (p.Val13411Leu) c.39856G>C (p.Val13286Leu) c.67051G>C (p.Val22351Leu) c.62128G>C (p.Val20710Leu) n.596+8879C>G n.2044-2244C>G c.66148G>C (p.Val22050Leu) c.40042G>C (p.Val13348Leu) c.39901G>C (p.Val13301Leu) c.65944G>C (p.Val21982Leu) c.61342G>C (p.Val20448Leu) c.61339G>C (p.Val20447Leu) c.58381G>C (p.Val19461Leu) c.39997G>C (p.Val13333Leu) c.61492G>C (p.Val20498Leu) c.61489G>C (p.Val20497Leu) c.60922G>C (p.Val20308Leu) c.58264G>C (p.Val19422Leu) c.58183G>C (p.Val19395Leu) c.39946G>C (p.Val13316Leu) c.29800G>C (p.Val9934Leu) | |
| 2 | g.178580328C>T | CA349424699 | TTN,TTN-AS1 | c.59347G>A (p.Val19783Met) c.40432G>A (p.Val13478Met) c.40231G>A (p.Val13411Met) c.39856G>A (p.Val13286Met) c.67051G>A (p.Val22351Met) c.62128G>A (p.Val20710Met) n.596+8879C>T n.2044-2244C>T c.66148G>A (p.Val22050Met) c.40042G>A (p.Val13348Met) c.39901G>A (p.Val13301Met) c.65944G>A (p.Val21982Met) c.61342G>A (p.Val20448Met) c.61339G>A (p.Val20447Met) c.58381G>A (p.Val19461Met) c.39997G>A (p.Val13333Met) c.61492G>A (p.Val20498Met) c.61489G>A (p.Val20497Met) c.60922G>A (p.Val20308Met) c.58264G>A (p.Val19422Met) c.58183G>A (p.Val19395Met) c.39946G>A (p.Val13316Met) c.29800G>A (p.Val9934Met) | |
| 2 | g.178580329T>A | CA349424702 | TTN,TTN-AS1 | c.59346A>T (p.Lys19782Asn) c.40431A>T (p.Lys13477Asn) c.40230A>T (p.Lys13410Asn) c.39855A>T (p.Lys13285Asn) c.67050A>T (p.Lys22350Asn) c.62127A>T (p.Lys20709Asn) n.596+8880T>A n.2044-2243T>A c.66147A>T (p.Lys22049Asn) c.40041A>T (p.Lys13347Asn) c.39900A>T (p.Lys13300Asn) c.65943A>T (p.Lys21981Asn) c.61341A>T (p.Lys20447Asn) c.61338A>T (p.Lys20446Asn) c.58380A>T (p.Lys19460Asn) c.39996A>T (p.Lys13332Asn) c.61491A>T (p.Lys20497Asn) c.61488A>T (p.Lys20496Asn) c.60921A>T (p.Lys20307Asn) c.58263A>T (p.Lys19421Asn) c.58182A>T (p.Lys19394Asn) c.39945A>T (p.Lys13315Asn) c.29799A>T (p.Lys9933Asn) | dbSNP |
| 2 | g.178580329T>C | CA430262346 | TTN,TTN-AS1 | c.59346A>G (p.Lys19782=) c.40431A>G (p.Lys13477=) c.40230A>G (p.Lys13410=) c.39855A>G (p.Lys13285=) c.67050A>G (p.Lys22350=) c.62127A>G (p.Lys20709=) n.596+8880T>C n.2044-2243T>C c.66147A>G (p.Lys22049=) c.40041A>G (p.Lys13347=) c.39900A>G (p.Lys13300=) c.65943A>G (p.Lys21981=) c.61341A>G (p.Lys20447=) c.61338A>G (p.Lys20446=) c.58380A>G (p.Lys19460=) c.39996A>G (p.Lys13332=) c.61491A>G (p.Lys20497=) c.61488A>G (p.Lys20496=) c.60921A>G (p.Lys20307=) c.58263A>G (p.Lys19421=) c.58182A>G (p.Lys19394=) c.39945A>G (p.Lys13315=) c.29799A>G (p.Lys9933=) | |
| 2 | g.178580329T>G | CA349424704 | TTN,TTN-AS1 | c.59346A>C (p.Lys19782Asn) c.40431A>C (p.Lys13477Asn) c.40230A>C (p.Lys13410Asn) c.39855A>C (p.Lys13285Asn) c.67050A>C (p.Lys22350Asn) c.62127A>C (p.Lys20709Asn) n.596+8880T>G n.2044-2243T>G c.66147A>C (p.Lys22049Asn) c.40041A>C (p.Lys13347Asn) c.39900A>C (p.Lys13300Asn) c.65943A>C (p.Lys21981Asn) c.61341A>C (p.Lys20447Asn) c.61338A>C (p.Lys20446Asn) c.58380A>C (p.Lys19460Asn) c.39996A>C (p.Lys13332Asn) c.61491A>C (p.Lys20497Asn) c.61488A>C (p.Lys20496Asn) c.60921A>C (p.Lys20307Asn) c.58263A>C (p.Lys19421Asn) c.58182A>C (p.Lys19394Asn) c.39945A>C (p.Lys13315Asn) c.29799A>C (p.Lys9933Asn) | |
| 2 | g.178580330T>A | CA349424707 | TTN,TTN-AS1 | c.59345A>T (p.Lys19782Ile) c.40430A>T (p.Lys13477Ile) c.40229A>T (p.Lys13410Ile) c.39854A>T (p.Lys13285Ile) c.67049A>T (p.Lys22350Ile) c.62126A>T (p.Lys20709Ile) n.596+8881T>A n.2044-2242T>A c.66146A>T (p.Lys22049Ile) c.40040A>T (p.Lys13347Ile) c.39899A>T (p.Lys13300Ile) c.65942A>T (p.Lys21981Ile) c.61340A>T (p.Lys20447Ile) c.61337A>T (p.Lys20446Ile) c.58379A>T (p.Lys19460Ile) c.39995A>T (p.Lys13332Ile) c.61490A>T (p.Lys20497Ile) c.61487A>T (p.Lys20496Ile) c.60920A>T (p.Lys20307Ile) c.58262A>T (p.Lys19421Ile) c.58181A>T (p.Lys19394Ile) c.39944A>T (p.Lys13315Ile) c.29798A>T (p.Lys9933Ile) | |
| 2 | g.178580330T>C | CA349424709 | TTN,TTN-AS1 | c.59345A>G (p.Lys19782Arg) c.40430A>G (p.Lys13477Arg) c.40229A>G (p.Lys13410Arg) c.39854A>G (p.Lys13285Arg) c.67049A>G (p.Lys22350Arg) c.62126A>G (p.Lys20709Arg) n.596+8881T>C n.2044-2242T>C c.66146A>G (p.Lys22049Arg) c.40040A>G (p.Lys13347Arg) c.39899A>G (p.Lys13300Arg) c.65942A>G (p.Lys21981Arg) c.61340A>G (p.Lys20447Arg) c.61337A>G (p.Lys20446Arg) c.58379A>G (p.Lys19460Arg) c.39995A>G (p.Lys13332Arg) c.61490A>G (p.Lys20497Arg) c.61487A>G (p.Lys20496Arg) c.60920A>G (p.Lys20307Arg) c.58262A>G (p.Lys19421Arg) c.58181A>G (p.Lys19394Arg) c.39944A>G (p.Lys13315Arg) c.29798A>G (p.Lys9933Arg) | |
| 2 | g.178580330T>G | CA349424711 | TTN,TTN-AS1 | c.59345A>C (p.Lys19782Thr) c.40430A>C (p.Lys13477Thr) c.40229A>C (p.Lys13410Thr) c.39854A>C (p.Lys13285Thr) c.67049A>C (p.Lys22350Thr) c.62126A>C (p.Lys20709Thr) n.596+8881T>G n.2044-2242T>G c.66146A>C (p.Lys22049Thr) c.40040A>C (p.Lys13347Thr) c.39899A>C (p.Lys13300Thr) c.65942A>C (p.Lys21981Thr) c.61340A>C (p.Lys20447Thr) c.61337A>C (p.Lys20446Thr) c.58379A>C (p.Lys19460Thr) c.39995A>C (p.Lys13332Thr) c.61490A>C (p.Lys20497Thr) c.61487A>C (p.Lys20496Thr) c.60920A>C (p.Lys20307Thr) c.58262A>C (p.Lys19421Thr) c.58181A>C (p.Lys19394Thr) c.39944A>C (p.Lys13315Thr) c.29798A>C (p.Lys9933Thr) | |
| 2 | g.178580331T>A | CA349424714 | TTN,TTN-AS1 | c.59344A>T (p.Lys19782Ter) c.40429A>T (p.Lys13477Ter) c.40228A>T (p.Lys13410Ter) c.39853A>T (p.Lys13285Ter) c.67048A>T (p.Lys22350Ter) c.62125A>T (p.Lys20709Ter) n.596+8882T>A n.2044-2241T>A c.66145A>T (p.Lys22049Ter) c.40039A>T (p.Lys13347Ter) c.39898A>T (p.Lys13300Ter) c.65941A>T (p.Lys21981Ter) c.61339A>T (p.Lys20447Ter) c.61336A>T (p.Lys20446Ter) c.58378A>T (p.Lys19460Ter) c.39994A>T (p.Lys13332Ter) c.61489A>T (p.Lys20497Ter) c.61486A>T (p.Lys20496Ter) c.60919A>T (p.Lys20307Ter) c.58261A>T (p.Lys19421Ter) c.58180A>T (p.Lys19394Ter) c.39943A>T (p.Lys13315Ter) c.29797A>T (p.Lys9933Ter) | |
| 2 | g.178580331T>C | CA349424716 | TTN,TTN-AS1 | c.59344A>G (p.Lys19782Glu) c.40429A>G (p.Lys13477Glu) c.40228A>G (p.Lys13410Glu) c.39853A>G (p.Lys13285Glu) c.67048A>G (p.Lys22350Glu) c.62125A>G (p.Lys20709Glu) n.596+8882T>C n.2044-2241T>C c.66145A>G (p.Lys22049Glu) c.40039A>G (p.Lys13347Glu) c.39898A>G (p.Lys13300Glu) c.65941A>G (p.Lys21981Glu) c.61339A>G (p.Lys20447Glu) c.61336A>G (p.Lys20446Glu) c.58378A>G (p.Lys19460Glu) c.39994A>G (p.Lys13332Glu) c.61489A>G (p.Lys20497Glu) c.61486A>G (p.Lys20496Glu) c.60919A>G (p.Lys20307Glu) c.58261A>G (p.Lys19421Glu) c.58180A>G (p.Lys19394Glu) c.39943A>G (p.Lys13315Glu) c.29797A>G (p.Lys9933Glu) | ClinVar |
| 2 | g.178580331T>G | CA349424718 | TTN,TTN-AS1 | c.59344A>C (p.Lys19782Gln) c.40429A>C (p.Lys13477Gln) c.40228A>C (p.Lys13410Gln) c.39853A>C (p.Lys13285Gln) c.67048A>C (p.Lys22350Gln) c.62125A>C (p.Lys20709Gln) n.596+8882T>G n.2044-2241T>G c.66145A>C (p.Lys22049Gln) c.40039A>C (p.Lys13347Gln) c.39898A>C (p.Lys13300Gln) c.65941A>C (p.Lys21981Gln) c.61339A>C (p.Lys20447Gln) c.61336A>C (p.Lys20446Gln) c.58378A>C (p.Lys19460Gln) c.39994A>C (p.Lys13332Gln) c.61489A>C (p.Lys20497Gln) c.61486A>C (p.Lys20496Gln) c.60919A>C (p.Lys20307Gln) c.58261A>C (p.Lys19421Gln) c.58180A>C (p.Lys19394Gln) c.39943A>C (p.Lys13315Gln) c.29797A>C (p.Lys9933Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178580331T= | CA1310535267 | TTN,TTN-AS1 | c.59344A= (p.Lys19782=) c.40429A= (p.Lys13477=) c.40228A= (p.Lys13410=) c.39853A= (p.Lys13285=) c.67048A= (p.Lys22350=) c.62125A= (p.Lys20709=) n.596+8882T= n.2044-2241T= c.66145A= (p.Lys22049=) c.40039A= (p.Lys13347=) c.39898A= (p.Lys13300=) c.65941A= (p.Lys21981=) c.61339A= (p.Lys20447=) c.61336A= (p.Lys20446=) c.58378A= (p.Lys19460=) c.39994A= (p.Lys13332=) c.61489A= (p.Lys20497=) c.61486A= (p.Lys20496=) c.60919A= (p.Lys20307=) c.58261A= (p.Lys19421=) c.58180A= (p.Lys19394=) c.39943A= (p.Lys13315=) c.29797A= (p.Lys9933=) | |
| 2 | g.178580332C>A | CA430262354 | TTN,TTN-AS1 | c.59343G>T (p.Val19781=) c.40428G>T (p.Val13476=) c.40227G>T (p.Val13409=) c.39852G>T (p.Val13284=) c.67047G>T (p.Val22349=) c.62124G>T (p.Val20708=) n.596+8883C>A n.2044-2240C>A c.66144G>T (p.Val22048=) c.40038G>T (p.Val13346=) c.39897G>T (p.Val13299=) c.65940G>T (p.Val21980=) c.61338G>T (p.Val20446=) c.61335G>T (p.Val20445=) c.58377G>T (p.Val19459=) c.39993G>T (p.Val13331=) c.61488G>T (p.Val20496=) c.61485G>T (p.Val20495=) c.60918G>T (p.Val20306=) c.58260G>T (p.Val19420=) c.58179G>T (p.Val19393=) c.39942G>T (p.Val13314=) c.29796G>T (p.Val9932=) | |
| 2 | g.178580332C>G | CA430262355 | TTN,TTN-AS1 | c.59343G>C (p.Val19781=) c.40428G>C (p.Val13476=) c.40227G>C (p.Val13409=) c.39852G>C (p.Val13284=) c.67047G>C (p.Val22349=) c.62124G>C (p.Val20708=) n.596+8883C>G n.2044-2240C>G c.66144G>C (p.Val22048=) c.40038G>C (p.Val13346=) c.39897G>C (p.Val13299=) c.65940G>C (p.Val21980=) c.61338G>C (p.Val20446=) c.61335G>C (p.Val20445=) c.58377G>C (p.Val19459=) c.39993G>C (p.Val13331=) c.61488G>C (p.Val20496=) c.61485G>C (p.Val20495=) c.60918G>C (p.Val20306=) c.58260G>C (p.Val19420=) c.58179G>C (p.Val19393=) c.39942G>C (p.Val13314=) c.29796G>C (p.Val9932=) | |
| 2 | g.178580332C>T | CA430262356 | TTN,TTN-AS1 | c.59343G>A (p.Val19781=) c.40428G>A (p.Val13476=) c.40227G>A (p.Val13409=) c.39852G>A (p.Val13284=) c.67047G>A (p.Val22349=) c.62124G>A (p.Val20708=) n.596+8883C>T n.2044-2240C>T c.66144G>A (p.Val22048=) c.40038G>A (p.Val13346=) c.39897G>A (p.Val13299=) c.65940G>A (p.Val21980=) c.61338G>A (p.Val20446=) c.61335G>A (p.Val20445=) c.58377G>A (p.Val19459=) c.39993G>A (p.Val13331=) c.61488G>A (p.Val20496=) c.61485G>A (p.Val20495=) c.60918G>A (p.Val20306=) c.58260G>A (p.Val19420=) c.58179G>A (p.Val19393=) c.39942G>A (p.Val13314=) c.29796G>A (p.Val9932=) | gnomAD v4 |
| 2 | g.178580333A>C | CA349424721 | TTN,TTN-AS1 | c.59342T>G (p.Val19781Gly) c.40427T>G (p.Val13476Gly) c.40226T>G (p.Val13409Gly) c.39851T>G (p.Val13284Gly) c.67046T>G (p.Val22349Gly) c.62123T>G (p.Val20708Gly) n.596+8884A>C n.2044-2239A>C c.66143T>G (p.Val22048Gly) c.40037T>G (p.Val13346Gly) c.39896T>G (p.Val13299Gly) c.65939T>G (p.Val21980Gly) c.61337T>G (p.Val20446Gly) c.61334T>G (p.Val20445Gly) c.58376T>G (p.Val19459Gly) c.39992T>G (p.Val13331Gly) c.61487T>G (p.Val20496Gly) c.61484T>G (p.Val20495Gly) c.60917T>G (p.Val20306Gly) c.58259T>G (p.Val19420Gly) c.58178T>G (p.Val19393Gly) c.39941T>G (p.Val13314Gly) c.29795T>G (p.Val9932Gly) | |
| 2 | g.178580333A>G | CA349424724 | TTN,TTN-AS1 | c.59342T>C (p.Val19781Ala) c.40427T>C (p.Val13476Ala) c.40226T>C (p.Val13409Ala) c.39851T>C (p.Val13284Ala) c.67046T>C (p.Val22349Ala) c.62123T>C (p.Val20708Ala) n.596+8884A>G n.2044-2239A>G c.66143T>C (p.Val22048Ala) c.40037T>C (p.Val13346Ala) c.39896T>C (p.Val13299Ala) c.65939T>C (p.Val21980Ala) c.61337T>C (p.Val20446Ala) c.61334T>C (p.Val20445Ala) c.58376T>C (p.Val19459Ala) c.39992T>C (p.Val13331Ala) c.61487T>C (p.Val20496Ala) c.61484T>C (p.Val20495Ala) c.60917T>C (p.Val20306Ala) c.58259T>C (p.Val19420Ala) c.58178T>C (p.Val19393Ala) c.39941T>C (p.Val13314Ala) c.29795T>C (p.Val9932Ala) | gnomAD v4 |
| 2 | g.178580333A>T | CA349424725 | TTN,TTN-AS1 | c.59342T>A (p.Val19781Glu) c.40427T>A (p.Val13476Glu) c.40226T>A (p.Val13409Glu) c.39851T>A (p.Val13284Glu) c.67046T>A (p.Val22349Glu) c.62123T>A (p.Val20708Glu) n.596+8884A>T n.2044-2239A>T c.66143T>A (p.Val22048Glu) c.40037T>A (p.Val13346Glu) c.39896T>A (p.Val13299Glu) c.65939T>A (p.Val21980Glu) c.61337T>A (p.Val20446Glu) c.61334T>A (p.Val20445Glu) c.58376T>A (p.Val19459Glu) c.39992T>A (p.Val13331Glu) c.61487T>A (p.Val20496Glu) c.61484T>A (p.Val20495Glu) c.60917T>A (p.Val20306Glu) c.58259T>A (p.Val19420Glu) c.58178T>A (p.Val19393Glu) c.39941T>A (p.Val13314Glu) c.29795T>A (p.Val9932Glu) | |
| 2 | g.178580334C>A | CA349424729 | TTN,TTN-AS1 | c.59341G>T (p.Val19781Leu) c.40426G>T (p.Val13476Leu) c.40225G>T (p.Val13409Leu) c.39850G>T (p.Val13284Leu) c.67045G>T (p.Val22349Leu) c.62122G>T (p.Val20708Leu) n.596+8885C>A n.2044-2238C>A c.66142G>T (p.Val22048Leu) c.40036G>T (p.Val13346Leu) c.39895G>T (p.Val13299Leu) c.65938G>T (p.Val21980Leu) c.61336G>T (p.Val20446Leu) c.61333G>T (p.Val20445Leu) c.58375G>T (p.Val19459Leu) c.39991G>T (p.Val13331Leu) c.61486G>T (p.Val20496Leu) c.61483G>T (p.Val20495Leu) c.60916G>T (p.Val20306Leu) c.58258G>T (p.Val19420Leu) c.58177G>T (p.Val19393Leu) c.39940G>T (p.Val13314Leu) c.29794G>T (p.Val9932Leu) | |
| 2 | g.178580334C>G | CA349424731 | TTN,TTN-AS1 | c.59341G>C (p.Val19781Leu) c.40426G>C (p.Val13476Leu) c.40225G>C (p.Val13409Leu) c.39850G>C (p.Val13284Leu) c.67045G>C (p.Val22349Leu) c.62122G>C (p.Val20708Leu) n.596+8885C>G n.2044-2238C>G c.66142G>C (p.Val22048Leu) c.40036G>C (p.Val13346Leu) c.39895G>C (p.Val13299Leu) c.65938G>C (p.Val21980Leu) c.61336G>C (p.Val20446Leu) c.61333G>C (p.Val20445Leu) c.58375G>C (p.Val19459Leu) c.39991G>C (p.Val13331Leu) c.61486G>C (p.Val20496Leu) c.61483G>C (p.Val20495Leu) c.60916G>C (p.Val20306Leu) c.58258G>C (p.Val19420Leu) c.58177G>C (p.Val19393Leu) c.39940G>C (p.Val13314Leu) c.29794G>C (p.Val9932Leu) | |
| 2 | g.178580334C>T | CA349424733 | TTN,TTN-AS1 | c.59341G>A (p.Val19781Met) c.40426G>A (p.Val13476Met) c.40225G>A (p.Val13409Met) c.39850G>A (p.Val13284Met) c.67045G>A (p.Val22349Met) c.62122G>A (p.Val20708Met) n.596+8885C>T n.2044-2238C>T c.66142G>A (p.Val22048Met) c.40036G>A (p.Val13346Met) c.39895G>A (p.Val13299Met) c.65938G>A (p.Val21980Met) c.61336G>A (p.Val20446Met) c.61333G>A (p.Val20445Met) c.58375G>A (p.Val19459Met) c.39991G>A (p.Val13331Met) c.61486G>A (p.Val20496Met) c.61483G>A (p.Val20495Met) c.60916G>A (p.Val20306Met) c.58258G>A (p.Val19420Met) c.58177G>A (p.Val19393Met) c.39940G>A (p.Val13314Met) c.29794G>A (p.Val9932Met) | |
| 2 | g.178580335A>C | CA430262362 | TTN,TTN-AS1 | c.59340T>G (p.Val19780=) c.40425T>G (p.Val13475=) c.40224T>G (p.Val13408=) c.39849T>G (p.Val13283=) c.67044T>G (p.Val22348=) c.62121T>G (p.Val20707=) n.596+8886A>C n.2044-2237A>C c.66141T>G (p.Val22047=) c.40035T>G (p.Val13345=) c.39894T>G (p.Val13298=) c.65937T>G (p.Val21979=) c.61335T>G (p.Val20445=) c.61332T>G (p.Val20444=) c.58374T>G (p.Val19458=) c.39990T>G (p.Val13330=) c.61485T>G (p.Val20495=) c.61482T>G (p.Val20494=) c.60915T>G (p.Val20305=) c.58257T>G (p.Val19419=) c.58176T>G (p.Val19392=) c.39939T>G (p.Val13313=) c.29793T>G (p.Val9931=) | |
| 2 | g.178580335A>G | CA430262363 | TTN,TTN-AS1 | c.59340T>C (p.Val19780=) c.40425T>C (p.Val13475=) c.40224T>C (p.Val13408=) c.39849T>C (p.Val13283=) c.67044T>C (p.Val22348=) c.62121T>C (p.Val20707=) n.596+8886A>G n.2044-2237A>G c.66141T>C (p.Val22047=) c.40035T>C (p.Val13345=) c.39894T>C (p.Val13298=) c.65937T>C (p.Val21979=) c.61335T>C (p.Val20445=) c.61332T>C (p.Val20444=) c.58374T>C (p.Val19458=) c.39990T>C (p.Val13330=) c.61485T>C (p.Val20495=) c.61482T>C (p.Val20494=) c.60915T>C (p.Val20305=) c.58257T>C (p.Val19419=) c.58176T>C (p.Val19392=) c.39939T>C (p.Val13313=) c.29793T>C (p.Val9931=) | |
| 2 | g.178580335A>T | CA430262364 | TTN,TTN-AS1 | c.59340T>A (p.Val19780=) c.40425T>A (p.Val13475=) c.40224T>A (p.Val13408=) c.39849T>A (p.Val13283=) c.67044T>A (p.Val22348=) c.62121T>A (p.Val20707=) n.596+8886A>T n.2044-2237A>T c.66141T>A (p.Val22047=) c.40035T>A (p.Val13345=) c.39894T>A (p.Val13298=) c.65937T>A (p.Val21979=) c.61335T>A (p.Val20445=) c.61332T>A (p.Val20444=) c.58374T>A (p.Val19458=) c.39990T>A (p.Val13330=) c.61485T>A (p.Val20495=) c.61482T>A (p.Val20494=) c.60915T>A (p.Val20305=) c.58257T>A (p.Val19419=) c.58176T>A (p.Val19392=) c.39939T>A (p.Val13313=) c.29793T>A (p.Val9931=) | gnomAD v4 |
| 2 | g.178580336A>C | CA349424736 | TTN,TTN-AS1 | c.59339T>G (p.Val19780Gly) c.40424T>G (p.Val13475Gly) c.40223T>G (p.Val13408Gly) c.39848T>G (p.Val13283Gly) c.67043T>G (p.Val22348Gly) c.62120T>G (p.Val20707Gly) n.596+8887A>C n.2044-2236A>C c.66140T>G (p.Val22047Gly) c.40034T>G (p.Val13345Gly) c.39893T>G (p.Val13298Gly) c.65936T>G (p.Val21979Gly) c.61334T>G (p.Val20445Gly) c.61331T>G (p.Val20444Gly) c.58373T>G (p.Val19458Gly) c.39989T>G (p.Val13330Gly) c.61484T>G (p.Val20495Gly) c.61481T>G (p.Val20494Gly) c.60914T>G (p.Val20305Gly) c.58256T>G (p.Val19419Gly) c.58175T>G (p.Val19392Gly) c.39938T>G (p.Val13313Gly) c.29792T>G (p.Val9931Gly) | |
| 2 | g.178580336A>G | CA349424740 | TTN,TTN-AS1 | c.59339T>C (p.Val19780Ala) c.40424T>C (p.Val13475Ala) c.40223T>C (p.Val13408Ala) c.39848T>C (p.Val13283Ala) c.67043T>C (p.Val22348Ala) c.62120T>C (p.Val20707Ala) n.596+8887A>G n.2044-2236A>G c.66140T>C (p.Val22047Ala) c.40034T>C (p.Val13345Ala) c.39893T>C (p.Val13298Ala) c.65936T>C (p.Val21979Ala) c.61334T>C (p.Val20445Ala) c.61331T>C (p.Val20444Ala) c.58373T>C (p.Val19458Ala) c.39989T>C (p.Val13330Ala) c.61484T>C (p.Val20495Ala) c.61481T>C (p.Val20494Ala) c.60914T>C (p.Val20305Ala) c.58256T>C (p.Val19419Ala) c.58175T>C (p.Val19392Ala) c.39938T>C (p.Val13313Ala) c.29792T>C (p.Val9931Ala) | gnomAD v4 |
| 2 | g.178580336A>T | CA349424738 | TTN,TTN-AS1 | c.59339T>A (p.Val19780Asp) c.40424T>A (p.Val13475Asp) c.40223T>A (p.Val13408Asp) c.39848T>A (p.Val13283Asp) c.67043T>A (p.Val22348Asp) c.62120T>A (p.Val20707Asp) n.596+8887A>T n.2044-2236A>T c.66140T>A (p.Val22047Asp) c.40034T>A (p.Val13345Asp) c.39893T>A (p.Val13298Asp) c.65936T>A (p.Val21979Asp) c.61334T>A (p.Val20445Asp) c.61331T>A (p.Val20444Asp) c.58373T>A (p.Val19458Asp) c.39989T>A (p.Val13330Asp) c.61484T>A (p.Val20495Asp) c.61481T>A (p.Val20494Asp) c.60914T>A (p.Val20305Asp) c.58256T>A (p.Val19419Asp) c.58175T>A (p.Val19392Asp) c.39938T>A (p.Val13313Asp) c.29792T>A (p.Val9931Asp) | |
| 2 | g.178580337C>A | CA349424743 | TTN,TTN-AS1 | c.59338G>T (p.Val19780Phe) c.40423G>T (p.Val13475Phe) c.40222G>T (p.Val13408Phe) c.39847G>T (p.Val13283Phe) c.67042G>T (p.Val22348Phe) c.62119G>T (p.Val20707Phe) n.596+8888C>A n.2044-2235C>A c.66139G>T (p.Val22047Phe) c.40033G>T (p.Val13345Phe) c.39892G>T (p.Val13298Phe) c.65935G>T (p.Val21979Phe) c.61333G>T (p.Val20445Phe) c.61330G>T (p.Val20444Phe) c.58372G>T (p.Val19458Phe) c.39988G>T (p.Val13330Phe) c.61483G>T (p.Val20495Phe) c.61480G>T (p.Val20494Phe) c.60913G>T (p.Val20305Phe) c.58255G>T (p.Val19419Phe) c.58174G>T (p.Val19392Phe) c.39937G>T (p.Val13313Phe) c.29791G>T (p.Val9931Phe) | |
| 2 | g.178580337C= | CA1310535268 | TTN,TTN-AS1 | c.59338G= (p.Val19780=) c.40423G= (p.Val13475=) c.40222G= (p.Val13408=) c.39847G= (p.Val13283=) c.67042G= (p.Val22348=) c.62119G= (p.Val20707=) n.596+8888C= n.2044-2235C= c.66139G= (p.Val22047=) c.40033G= (p.Val13345=) c.39892G= (p.Val13298=) c.65935G= (p.Val21979=) c.61333G= (p.Val20445=) c.61330G= (p.Val20444=) c.58372G= (p.Val19458=) c.39988G= (p.Val13330=) c.61483G= (p.Val20495=) c.61480G= (p.Val20494=) c.60913G= (p.Val20305=) c.58255G= (p.Val19419=) c.58174G= (p.Val19392=) c.39937G= (p.Val13313=) c.29791G= (p.Val9931=) | |
| 2 | g.178580337C>G | CA349424746 | TTN,TTN-AS1 | c.59338G>C (p.Val19780Leu) c.40423G>C (p.Val13475Leu) c.40222G>C (p.Val13408Leu) c.39847G>C (p.Val13283Leu) c.67042G>C (p.Val22348Leu) c.62119G>C (p.Val20707Leu) n.596+8888C>G n.2044-2235C>G c.66139G>C (p.Val22047Leu) c.40033G>C (p.Val13345Leu) c.39892G>C (p.Val13298Leu) c.65935G>C (p.Val21979Leu) c.61333G>C (p.Val20445Leu) c.61330G>C (p.Val20444Leu) c.58372G>C (p.Val19458Leu) c.39988G>C (p.Val13330Leu) c.61483G>C (p.Val20495Leu) c.61480G>C (p.Val20494Leu) c.60913G>C (p.Val20305Leu) c.58255G>C (p.Val19419Leu) c.58174G>C (p.Val19392Leu) c.39937G>C (p.Val13313Leu) c.29791G>C (p.Val9931Leu) | |
| 2 | g.178580337C>T | CA1991385 | TTN,TTN-AS1 | c.59338G>A (p.Val19780Ile) c.40423G>A (p.Val13475Ile) c.40222G>A (p.Val13408Ile) c.39847G>A (p.Val13283Ile) c.67042G>A (p.Val22348Ile) c.62119G>A (p.Val20707Ile) n.596+8888C>T n.2044-2235C>T c.66139G>A (p.Val22047Ile) c.40033G>A (p.Val13345Ile) c.39892G>A (p.Val13298Ile) c.65935G>A (p.Val21979Ile) c.61333G>A (p.Val20445Ile) c.61330G>A (p.Val20444Ile) c.58372G>A (p.Val19458Ile) c.39988G>A (p.Val13330Ile) c.61483G>A (p.Val20495Ile) c.61480G>A (p.Val20494Ile) c.60913G>A (p.Val20305Ile) c.58255G>A (p.Val19419Ile) c.58174G>A (p.Val19392Ile) c.39937G>A (p.Val13313Ile) c.29791G>A (p.Val9931Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |