| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178738151C>A | CA349602092 | TTN | c.10570G>T (p.Gly3524Cys) c.13789G>T (p.Gly4597Cys) c.13588G>T (p.Gly4530Cys) c.13213G>T (p.Gly4405Cys) c.14302G>T (p.Gly4768Cys) c.13351G>T (p.Gly4451Cys) c.13399G>T (p.Gly4467Cys) c.13258G>T (p.Gly4420Cys) c.13354G>T (p.Gly4452Cys) c.10573G>T (p.Gly3525Cys) | |
| 2 | g.178738151C= | CA1310600757 | TTN | c.10570G= (p.Gly3524=) c.13789G= (p.Gly4597=) c.13588G= (p.Gly4530=) c.13213G= (p.Gly4405=) c.14302G= (p.Gly4768=) c.13351G= (p.Gly4451=) c.13399G= (p.Gly4467=) c.13258G= (p.Gly4420=) c.13354G= (p.Gly4452=) c.10573G= (p.Gly3525=) | |
| 2 | g.178738151C>G | CA349602094 | TTN | c.10570G>C (p.Gly3524Arg) c.13789G>C (p.Gly4597Arg) c.13588G>C (p.Gly4530Arg) c.13213G>C (p.Gly4405Arg) c.14302G>C (p.Gly4768Arg) c.13351G>C (p.Gly4451Arg) c.13399G>C (p.Gly4467Arg) c.13258G>C (p.Gly4420Arg) c.13354G>C (p.Gly4452Arg) c.10573G>C (p.Gly3525Arg) | |
| 2 | g.178738151C>T | CA179001 | TTN | c.10570G>A (p.Gly3524Ser) c.13789G>A (p.Gly4597Ser) c.13588G>A (p.Gly4530Ser) c.13213G>A (p.Gly4405Ser) c.14302G>A (p.Gly4768Ser) c.13351G>A (p.Gly4451Ser) c.13399G>A (p.Gly4467Ser) c.13258G>A (p.Gly4420Ser) c.13354G>A (p.Gly4452Ser) c.10573G>A (p.Gly3525Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178738152G>A | CA430294973 | TTN | c.10569C>T (p.Cys3523=) c.13788C>T (p.Cys4596=) c.13587C>T (p.Cys4529=) c.13212C>T (p.Cys4404=) c.14301C>T (p.Cys4767=) c.13350C>T (p.Cys4450=) c.13398C>T (p.Cys4466=) c.13257C>T (p.Cys4419=) c.13353C>T (p.Cys4451=) c.10572C>T (p.Cys3524=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178738152G>C | CA349602095 | TTN | c.10569C>G (p.Cys3523Trp) c.13788C>G (p.Cys4596Trp) c.13587C>G (p.Cys4529Trp) c.13212C>G (p.Cys4404Trp) c.14301C>G (p.Cys4767Trp) c.13350C>G (p.Cys4450Trp) c.13398C>G (p.Cys4466Trp) c.13257C>G (p.Cys4419Trp) c.13353C>G (p.Cys4451Trp) c.10572C>G (p.Cys3524Trp) | |
| 2 | g.178738152G= | CA1310600758 | TTN | c.10569C= (p.Cys3523=) c.13788C= (p.Cys4596=) c.13587C= (p.Cys4529=) c.13212C= (p.Cys4404=) c.14301C= (p.Cys4767=) c.13350C= (p.Cys4450=) c.13398C= (p.Cys4466=) c.13257C= (p.Cys4419=) c.13353C= (p.Cys4451=) c.10572C= (p.Cys3524=) | |
| 2 | g.178738152G>T | CA349602096 | TTN | c.10569C>A (p.Cys3523Ter) c.13788C>A (p.Cys4596Ter) c.13587C>A (p.Cys4529Ter) c.13212C>A (p.Cys4404Ter) c.14301C>A (p.Cys4767Ter) c.13350C>A (p.Cys4450Ter) c.13398C>A (p.Cys4466Ter) c.13257C>A (p.Cys4419Ter) c.13353C>A (p.Cys4451Ter) c.10572C>A (p.Cys3524Ter) | ClinVar |
| 2 | g.178738153C>A | CA349602097 | TTN | c.10568G>T (p.Cys3523Phe) c.13787G>T (p.Cys4596Phe) c.13586G>T (p.Cys4529Phe) c.13211G>T (p.Cys4404Phe) c.14300G>T (p.Cys4767Phe) c.13349G>T (p.Cys4450Phe) c.13397G>T (p.Cys4466Phe) c.13256G>T (p.Cys4419Phe) c.13352G>T (p.Cys4451Phe) c.10571G>T (p.Cys3524Phe) | |
| 2 | g.178738153C= | CA1310600759 | TTN | c.10568G= (p.Cys3523=) c.13787G= (p.Cys4596=) c.13586G= (p.Cys4529=) c.13211G= (p.Cys4404=) c.14300G= (p.Cys4767=) c.13349G= (p.Cys4450=) c.13397G= (p.Cys4466=) c.13256G= (p.Cys4419=) c.13352G= (p.Cys4451=) c.10571G= (p.Cys3524=) | |
| 2 | g.178738153C>G | CA349602098 | TTN | c.10568G>C (p.Cys3523Ser) c.13787G>C (p.Cys4596Ser) c.13586G>C (p.Cys4529Ser) c.13211G>C (p.Cys4404Ser) c.14300G>C (p.Cys4767Ser) c.13349G>C (p.Cys4450Ser) c.13397G>C (p.Cys4466Ser) c.13256G>C (p.Cys4419Ser) c.13352G>C (p.Cys4451Ser) c.10571G>C (p.Cys3524Ser) | |
| 2 | g.178738153C>T | CA349602100 | TTN | c.10568G>A (p.Cys3523Tyr) c.13787G>A (p.Cys4596Tyr) c.13586G>A (p.Cys4529Tyr) c.13211G>A (p.Cys4404Tyr) c.14300G>A (p.Cys4767Tyr) c.13349G>A (p.Cys4450Tyr) c.13397G>A (p.Cys4466Tyr) c.13256G>A (p.Cys4419Tyr) c.13352G>A (p.Cys4451Tyr) c.10571G>A (p.Cys3524Tyr) | dbSNP gnomAD v4 |
| 2 | g.178738154A>C | CA349602102 | TTN | c.10567T>G (p.Cys3523Gly) c.13786T>G (p.Cys4596Gly) c.13585T>G (p.Cys4529Gly) c.13210T>G (p.Cys4404Gly) c.14299T>G (p.Cys4767Gly) c.13348T>G (p.Cys4450Gly) c.13396T>G (p.Cys4466Gly) c.13255T>G (p.Cys4419Gly) c.13351T>G (p.Cys4451Gly) c.10570T>G (p.Cys3524Gly) | |
| 2 | g.178738154A>G | CA349602104 | TTN | c.10567T>C (p.Cys3523Arg) c.13786T>C (p.Cys4596Arg) c.13585T>C (p.Cys4529Arg) c.13210T>C (p.Cys4404Arg) c.14299T>C (p.Cys4767Arg) c.13348T>C (p.Cys4450Arg) c.13396T>C (p.Cys4466Arg) c.13255T>C (p.Cys4419Arg) c.13351T>C (p.Cys4451Arg) c.10570T>C (p.Cys3524Arg) | |
| 2 | g.178738154A>T | CA349602107 | TTN | c.10567T>A (p.Cys3523Ser) c.13786T>A (p.Cys4596Ser) c.13585T>A (p.Cys4529Ser) c.13210T>A (p.Cys4404Ser) c.14299T>A (p.Cys4767Ser) c.13348T>A (p.Cys4450Ser) c.13396T>A (p.Cys4466Ser) c.13255T>A (p.Cys4419Ser) c.13351T>A (p.Cys4451Ser) c.10570T>A (p.Cys3524Ser) | |
| 2 | g.178738155G>A | CA430294982 | TTN | c.10566C>T (p.Asp3522=) c.13785C>T (p.Asp4595=) c.13584C>T (p.Asp4528=) c.13209C>T (p.Asp4403=) c.14298C>T (p.Asp4766=) c.13347C>T (p.Asp4449=) c.13395C>T (p.Asp4465=) c.13254C>T (p.Asp4418=) c.13350C>T (p.Asp4450=) c.10569C>T (p.Asp3523=) | |
| 2 | g.178738155G>C | CA349602110 | TTN | c.10566C>G (p.Asp3522Glu) c.13785C>G (p.Asp4595Glu) c.13584C>G (p.Asp4528Glu) c.13209C>G (p.Asp4403Glu) c.14298C>G (p.Asp4766Glu) c.13347C>G (p.Asp4449Glu) c.13395C>G (p.Asp4465Glu) c.13254C>G (p.Asp4418Glu) c.13350C>G (p.Asp4450Glu) c.10569C>G (p.Asp3523Glu) | |
| 2 | g.178738155G>T | CA349602111 | TTN | c.10566C>A (p.Asp3522Glu) c.13785C>A (p.Asp4595Glu) c.13584C>A (p.Asp4528Glu) c.13209C>A (p.Asp4403Glu) c.14298C>A (p.Asp4766Glu) c.13347C>A (p.Asp4449Glu) c.13395C>A (p.Asp4465Glu) c.13254C>A (p.Asp4418Glu) c.13350C>A (p.Asp4450Glu) c.10569C>A (p.Asp3523Glu) | |
| 2 | g.178738156T>A | CA349602119 | TTN | c.10565A>T (p.Asp3522Val) c.13784A>T (p.Asp4595Val) c.13583A>T (p.Asp4528Val) c.13208A>T (p.Asp4403Val) c.14297A>T (p.Asp4766Val) c.13346A>T (p.Asp4449Val) c.13394A>T (p.Asp4465Val) c.13253A>T (p.Asp4418Val) c.13349A>T (p.Asp4450Val) c.10568A>T (p.Asp3523Val) | |
| 2 | g.178738156T>C | CA60982479 | TTN | c.10565A>G (p.Asp3522Gly) c.13784A>G (p.Asp4595Gly) c.13583A>G (p.Asp4528Gly) c.13208A>G (p.Asp4403Gly) c.14297A>G (p.Asp4766Gly) c.13346A>G (p.Asp4449Gly) c.13394A>G (p.Asp4465Gly) c.13253A>G (p.Asp4418Gly) c.13349A>G (p.Asp4450Gly) c.10568A>G (p.Asp3523Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178738156T>G | CA349602118 | TTN | c.10565A>C (p.Asp3522Ala) c.13784A>C (p.Asp4595Ala) c.13583A>C (p.Asp4528Ala) c.13208A>C (p.Asp4403Ala) c.14297A>C (p.Asp4766Ala) c.13346A>C (p.Asp4449Ala) c.13394A>C (p.Asp4465Ala) c.13253A>C (p.Asp4418Ala) c.13349A>C (p.Asp4450Ala) c.10568A>C (p.Asp3523Ala) | |
| 2 | g.178738156T= | CA1310600760 | TTN | c.10565A= (p.Asp3522=) c.13784A= (p.Asp4595=) c.13583A= (p.Asp4528=) c.13208A= (p.Asp4403=) c.14297A= (p.Asp4766=) c.13346A= (p.Asp4449=) c.13394A= (p.Asp4465=) c.13253A= (p.Asp4418=) c.13349A= (p.Asp4450=) c.10568A= (p.Asp3523=) | |
| 2 | g.178738157C>A | CA349602122 | TTN | c.10564G>T (p.Asp3522Tyr) c.13783G>T (p.Asp4595Tyr) c.13582G>T (p.Asp4528Tyr) c.13207G>T (p.Asp4403Tyr) c.14296G>T (p.Asp4766Tyr) c.13345G>T (p.Asp4449Tyr) c.13393G>T (p.Asp4465Tyr) c.13252G>T (p.Asp4418Tyr) c.13348G>T (p.Asp4450Tyr) c.10567G>T (p.Asp3523Tyr) | |
| 2 | g.178738157C= | CA1310600761 | TTN | c.10564G= (p.Asp3522=) c.13783G= (p.Asp4595=) c.13582G= (p.Asp4528=) c.13207G= (p.Asp4403=) c.14296G= (p.Asp4766=) c.13345G= (p.Asp4449=) c.13393G= (p.Asp4465=) c.13252G= (p.Asp4418=) c.13348G= (p.Asp4450=) c.10567G= (p.Asp3523=) | |
| 2 | g.178738157C>G | CA349602124 | TTN | c.10564G>C (p.Asp3522His) c.13783G>C (p.Asp4595His) c.13582G>C (p.Asp4528His) c.13207G>C (p.Asp4403His) c.14296G>C (p.Asp4766His) c.13345G>C (p.Asp4449His) c.13393G>C (p.Asp4465His) c.13252G>C (p.Asp4418His) c.13348G>C (p.Asp4450His) c.10567G>C (p.Asp3523His) | |
| 2 | g.178738157C>T | CA60982481 | TTN | c.10564G>A (p.Asp3522Asn) c.13783G>A (p.Asp4595Asn) c.13582G>A (p.Asp4528Asn) c.13207G>A (p.Asp4403Asn) c.14296G>A (p.Asp4766Asn) c.13345G>A (p.Asp4449Asn) c.13393G>A (p.Asp4465Asn) c.13252G>A (p.Asp4418Asn) c.13348G>A (p.Asp4450Asn) c.10567G>A (p.Asp3523Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178738158A>C | CA430294992 | TTN | c.10563T>G (p.Val3521=) c.13782T>G (p.Val4594=) c.13581T>G (p.Val4527=) c.13206T>G (p.Val4402=) c.14295T>G (p.Val4765=) c.13344T>G (p.Val4448=) c.13392T>G (p.Val4464=) c.13251T>G (p.Val4417=) c.13347T>G (p.Val4449=) c.10566T>G (p.Val3522=) | |
| 2 | g.178738158A>G | CA430294993 | TTN | c.10563T>C (p.Val3521=) c.13782T>C (p.Val4594=) c.13581T>C (p.Val4527=) c.13206T>C (p.Val4402=) c.14295T>C (p.Val4765=) c.13344T>C (p.Val4448=) c.13392T>C (p.Val4464=) c.13251T>C (p.Val4417=) c.13347T>C (p.Val4449=) c.10566T>C (p.Val3522=) | |
| 2 | g.178738158A>T | CA430294995 | TTN | c.10563T>A (p.Val3521=) c.13782T>A (p.Val4594=) c.13581T>A (p.Val4527=) c.13206T>A (p.Val4402=) c.14295T>A (p.Val4765=) c.13344T>A (p.Val4448=) c.13392T>A (p.Val4464=) c.13251T>A (p.Val4417=) c.13347T>A (p.Val4449=) c.10566T>A (p.Val3522=) | |
| 2 | g.178738159A= | CA1310600762 | TTN | c.10562T= (p.Val3521=) c.13781T= (p.Val4594=) c.13580T= (p.Val4527=) c.13205T= (p.Val4402=) c.14294T= (p.Val4765=) c.13343T= (p.Val4448=) c.13391T= (p.Val4464=) c.13250T= (p.Val4417=) c.13346T= (p.Val4449=) c.10565T= (p.Val3522=) | |
| 2 | g.178738159A>C | CA349602128 | TTN | c.10562T>G (p.Val3521Gly) c.13781T>G (p.Val4594Gly) c.13580T>G (p.Val4527Gly) c.13205T>G (p.Val4402Gly) c.14294T>G (p.Val4765Gly) c.13343T>G (p.Val4448Gly) c.13391T>G (p.Val4464Gly) c.13250T>G (p.Val4417Gly) c.13346T>G (p.Val4449Gly) c.10565T>G (p.Val3522Gly) | |
| 2 | g.178738159A>G | CA349602131 | TTN | c.10562T>C (p.Val3521Ala) c.13781T>C (p.Val4594Ala) c.13580T>C (p.Val4527Ala) c.13205T>C (p.Val4402Ala) c.14294T>C (p.Val4765Ala) c.13343T>C (p.Val4448Ala) c.13391T>C (p.Val4464Ala) c.13250T>C (p.Val4417Ala) c.13346T>C (p.Val4449Ala) c.10565T>C (p.Val3522Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178738159A>T | CA349602132 | TTN | c.10562T>A (p.Val3521Asp) c.13781T>A (p.Val4594Asp) c.13580T>A (p.Val4527Asp) c.13205T>A (p.Val4402Asp) c.14294T>A (p.Val4765Asp) c.13343T>A (p.Val4448Asp) c.13391T>A (p.Val4464Asp) c.13250T>A (p.Val4417Asp) c.13346T>A (p.Val4449Asp) c.10565T>A (p.Val3522Asp) | dbSNP gnomAD v4 |
| 2 | g.178738160C>A | CA349602137 | TTN | c.10561G>T (p.Val3521Phe) c.13780G>T (p.Val4594Phe) c.13579G>T (p.Val4527Phe) c.13204G>T (p.Val4402Phe) c.14293G>T (p.Val4765Phe) c.13342G>T (p.Val4448Phe) c.13390G>T (p.Val4464Phe) c.13249G>T (p.Val4417Phe) c.13345G>T (p.Val4449Phe) c.10564G>T (p.Val3522Phe) | |
| 2 | g.178738160C>G | CA349602140 | TTN | c.10561G>C (p.Val3521Leu) c.13780G>C (p.Val4594Leu) c.13579G>C (p.Val4527Leu) c.13204G>C (p.Val4402Leu) c.14293G>C (p.Val4765Leu) c.13342G>C (p.Val4448Leu) c.13390G>C (p.Val4464Leu) c.13249G>C (p.Val4417Leu) c.13345G>C (p.Val4449Leu) c.10564G>C (p.Val3522Leu) | |
| 2 | g.178738160C>T | CA349602141 | TTN | c.10561G>A (p.Val3521Ile) c.13780G>A (p.Val4594Ile) c.13579G>A (p.Val4527Ile) c.13204G>A (p.Val4402Ile) c.14293G>A (p.Val4765Ile) c.13342G>A (p.Val4448Ile) c.13390G>A (p.Val4464Ile) c.13249G>A (p.Val4417Ile) c.13345G>A (p.Val4449Ile) c.10564G>A (p.Val3522Ile) | |
| 2 | g.178738161C>A | CA430295003 | TTN | c.10560G>T (p.Val3520=) c.13779G>T (p.Val4593=) c.13578G>T (p.Val4526=) c.13203G>T (p.Val4401=) c.14292G>T (p.Val4764=) c.13341G>T (p.Val4447=) c.13389G>T (p.Val4463=) c.13248G>T (p.Val4416=) c.13344G>T (p.Val4448=) c.10563G>T (p.Val3521=) | |
| 2 | g.178738161C= | CA1310600763 | TTN | c.10560G= (p.Val3520=) c.13779G= (p.Val4593=) c.13578G= (p.Val4526=) c.13203G= (p.Val4401=) c.14292G= (p.Val4764=) c.13341G= (p.Val4447=) c.13389G= (p.Val4463=) c.13248G= (p.Val4416=) c.13344G= (p.Val4448=) c.10563G= (p.Val3521=) | |
| 2 | g.178738161C>G | CA430295005 | TTN | c.10560G>C (p.Val3520=) c.13779G>C (p.Val4593=) c.13578G>C (p.Val4526=) c.13203G>C (p.Val4401=) c.14292G>C (p.Val4764=) c.13341G>C (p.Val4447=) c.13389G>C (p.Val4463=) c.13248G>C (p.Val4416=) c.13344G>C (p.Val4448=) c.10563G>C (p.Val3521=) | |
| 2 | g.178738161C>T | CA430295008 | TTN | c.10560G>A (p.Val3520=) c.13779G>A (p.Val4593=) c.13578G>A (p.Val4526=) c.13203G>A (p.Val4401=) c.14292G>A (p.Val4764=) c.13341G>A (p.Val4447=) c.13389G>A (p.Val4463=) c.13248G>A (p.Val4416=) c.13344G>A (p.Val4448=) c.10563G>A (p.Val3521=) | dbSNP gnomAD v2 |
| 2 | g.178738162A>C | CA349602144 | TTN | c.10559T>G (p.Val3520Gly) c.13778T>G (p.Val4593Gly) c.13577T>G (p.Val4526Gly) c.13202T>G (p.Val4401Gly) c.14291T>G (p.Val4764Gly) c.13340T>G (p.Val4447Gly) c.13388T>G (p.Val4463Gly) c.13247T>G (p.Val4416Gly) c.13343T>G (p.Val4448Gly) c.10562T>G (p.Val3521Gly) | |
| 2 | g.178738162A>G | CA349602146 | TTN | c.10559T>C (p.Val3520Ala) c.13778T>C (p.Val4593Ala) c.13577T>C (p.Val4526Ala) c.13202T>C (p.Val4401Ala) c.14291T>C (p.Val4764Ala) c.13340T>C (p.Val4447Ala) c.13388T>C (p.Val4463Ala) c.13247T>C (p.Val4416Ala) c.13343T>C (p.Val4448Ala) c.10562T>C (p.Val3521Ala) | |
| 2 | g.178738162A>T | CA349602148 | TTN | c.10559T>A (p.Val3520Glu) c.13778T>A (p.Val4593Glu) c.13577T>A (p.Val4526Glu) c.13202T>A (p.Val4401Glu) c.14291T>A (p.Val4764Glu) c.13340T>A (p.Val4447Glu) c.13388T>A (p.Val4463Glu) c.13247T>A (p.Val4416Glu) c.13343T>A (p.Val4448Glu) c.10562T>A (p.Val3521Glu) | |
| 2 | g.178738163C>A | CA349602150 | TTN | c.10558G>T (p.Val3520Leu) c.13777G>T (p.Val4593Leu) c.13576G>T (p.Val4526Leu) c.13201G>T (p.Val4401Leu) c.14290G>T (p.Val4764Leu) c.13339G>T (p.Val4447Leu) c.13387G>T (p.Val4463Leu) c.13246G>T (p.Val4416Leu) c.13342G>T (p.Val4448Leu) c.10561G>T (p.Val3521Leu) | |
| 2 | g.178738163C>G | CA349602154 | TTN | c.10558G>C (p.Val3520Leu) c.13777G>C (p.Val4593Leu) c.13576G>C (p.Val4526Leu) c.13201G>C (p.Val4401Leu) c.14290G>C (p.Val4764Leu) c.13339G>C (p.Val4447Leu) c.13387G>C (p.Val4463Leu) c.13246G>C (p.Val4416Leu) c.13342G>C (p.Val4448Leu) c.10561G>C (p.Val3521Leu) | |
| 2 | g.178738163C>T | CA349602152 | TTN | c.10558G>A (p.Val3520Met) c.13777G>A (p.Val4593Met) c.13576G>A (p.Val4526Met) c.13201G>A (p.Val4401Met) c.14290G>A (p.Val4764Met) c.13339G>A (p.Val4447Met) c.13387G>A (p.Val4463Met) c.13246G>A (p.Val4416Met) c.13342G>A (p.Val4448Met) c.10561G>A (p.Val3521Met) | |
| 2 | g.178738164C>A | CA349602158 | TTN | c.10557G>T (p.Gln3519His) c.13776G>T (p.Gln4592His) c.13575G>T (p.Gln4525His) c.13200G>T (p.Gln4400His) c.14289G>T (p.Gln4763His) c.13338G>T (p.Gln4446His) c.13386G>T (p.Gln4462His) c.13245G>T (p.Gln4415His) c.13341G>T (p.Gln4447His) c.10560G>T (p.Gln3520His) | |
| 2 | g.178738164C>G | CA349602160 | TTN | c.10557G>C (p.Gln3519His) c.13776G>C (p.Gln4592His) c.13575G>C (p.Gln4525His) c.13200G>C (p.Gln4400His) c.14289G>C (p.Gln4763His) c.13338G>C (p.Gln4446His) c.13386G>C (p.Gln4462His) c.13245G>C (p.Gln4415His) c.13341G>C (p.Gln4447His) c.10560G>C (p.Gln3520His) | |
| 2 | g.178738164C>T | CA430295017 | TTN | c.10557G>A (p.Gln3519=) c.13776G>A (p.Gln4592=) c.13575G>A (p.Gln4525=) c.13200G>A (p.Gln4400=) c.14289G>A (p.Gln4763=) c.13338G>A (p.Gln4446=) c.13386G>A (p.Gln4462=) c.13245G>A (p.Gln4415=) c.13341G>A (p.Gln4447=) c.10560G>A (p.Gln3520=) | gnomAD v4 |
| 2 | g.178738165T>A | CA349602165 | TTN | c.10556A>T (p.Gln3519Leu) c.13775A>T (p.Gln4592Leu) c.13574A>T (p.Gln4525Leu) c.13199A>T (p.Gln4400Leu) c.14288A>T (p.Gln4763Leu) c.13337A>T (p.Gln4446Leu) c.13385A>T (p.Gln4462Leu) c.13244A>T (p.Gln4415Leu) c.13340A>T (p.Gln4447Leu) c.10559A>T (p.Gln3520Leu) | dbSNP gnomAD v4 |