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.178618181C>A | CA2662134722 | TTN,TTN-AS1 | c.39565+8G>T (n.39565+8G>T) c.20650+8G>T (n.20650+8G>T) c.20449+8G>T (n.20449+8G>T) c.20074+8G>T (n.20074+8G>T) c.47269+8G>T (n.47269+8G>T) c.42346+8G>T (n.42346+8G>T) n.1605-1572C>A c.46366+8G>T (n.46366+8G>T) c.20260+8G>T (n.20260+8G>T) c.20119+8G>T (n.20119+8G>T) c.46162+8G>T (n.46162+8G>T) c.41560+8G>T (n.41560+8G>T) c.41557+8G>T (n.41557+8G>T) c.38599+8G>T (n.38599+8G>T) c.20215+8G>T (n.20215+8G>T) c.41710+8G>T (n.41710+8G>T) c.41707+8G>T (n.41707+8G>T) c.41140+8G>T (n.41140+8G>T) c.38482+8G>T (n.38482+8G>T) c.38401+8G>T (n.38401+8G>T) c.20164+8G>T (n.20164+8G>T) c.10018+8G>T (n.10018+8G>T) | gnomAD v4 |
| 2 | g.178618184_178618186del | CA2577171296 | TTN,TTN-AS1 | c.39565+6_39565+8del (n.39565+6_39565+8del) c.20650+6_20650+8del (n.20650+6_20650+8del) c.20449+6_20449+8del (n.20449+6_20449+8del) c.20074+6_20074+8del (n.20074+6_20074+8del) c.47269+6_47269+8del (n.47269+6_47269+8del) c.42346+6_42346+8del (n.42346+6_42346+8del) n.1605-1569_1605-1567del c.46366+6_46366+8del (n.46366+6_46366+8del) c.20260+6_20260+8del (n.20260+6_20260+8del) c.20119+6_20119+8del (n.20119+6_20119+8del) c.46162+6_46162+8del (n.46162+6_46162+8del) c.41560+6_41560+8del (n.41560+6_41560+8del) c.41557+6_41557+8del (n.41557+6_41557+8del) c.38599+6_38599+8del (n.38599+6_38599+8del) c.20215+6_20215+8del (n.20215+6_20215+8del) c.41710+6_41710+8del (n.41710+6_41710+8del) c.41707+6_41707+8del (n.41707+6_41707+8del) c.41140+6_41140+8del (n.41140+6_41140+8del) c.38482+6_38482+8del (n.38482+6_38482+8del) c.38401+6_38401+8del (n.38401+6_38401+8del) c.20164+6_20164+8del (n.20164+6_20164+8del) c.10018+6_10018+8del (n.10018+6_10018+8del) | |
| 2 | g.178618182T>C | CA1995094 | TTN,TTN-AS1 | c.39565+7A>G (n.39565+7A>G) c.20650+7A>G (n.20650+7A>G) c.20449+7A>G (n.20449+7A>G) c.20074+7A>G (n.20074+7A>G) c.47269+7A>G (n.47269+7A>G) c.42346+7A>G (n.42346+7A>G) n.1605-1571T>C c.46366+7A>G (n.46366+7A>G) c.20260+7A>G (n.20260+7A>G) c.20119+7A>G (n.20119+7A>G) c.46162+7A>G (n.46162+7A>G) c.41560+7A>G (n.41560+7A>G) c.41557+7A>G (n.41557+7A>G) c.38599+7A>G (n.38599+7A>G) c.20215+7A>G (n.20215+7A>G) c.41710+7A>G (n.41710+7A>G) c.41707+7A>G (n.41707+7A>G) c.41140+7A>G (n.41140+7A>G) c.38482+7A>G (n.38482+7A>G) c.38401+7A>G (n.38401+7A>G) c.20164+7A>G (n.20164+7A>G) c.10018+7A>G (n.10018+7A>G) | dbSNP ExAC gnomAD v2 |
| 2 | g.178618182T= | CA1310550946 | TTN,TTN-AS1 | c.39565+7A= (n.39565+7A=) c.20650+7A= (n.20650+7A=) c.20449+7A= (n.20449+7A=) c.20074+7A= (n.20074+7A=) c.47269+7A= (n.47269+7A=) c.42346+7A= (n.42346+7A=) n.1605-1571T= c.46366+7A= (n.46366+7A=) c.20260+7A= (n.20260+7A=) c.20119+7A= (n.20119+7A=) c.46162+7A= (n.46162+7A=) c.41560+7A= (n.41560+7A=) c.41557+7A= (n.41557+7A=) c.38599+7A= (n.38599+7A=) c.20215+7A= (n.20215+7A=) c.41710+7A= (n.41710+7A=) c.41707+7A= (n.41707+7A=) c.41140+7A= (n.41140+7A=) c.38482+7A= (n.38482+7A=) c.38401+7A= (n.38401+7A=) c.20164+7A= (n.20164+7A=) c.10018+7A= (n.10018+7A=) | |
| 2 | g.178618184C>T | CA2577171297 | TTN,TTN-AS1 | c.39565+5G>A (n.39565+5G>A) c.20650+5G>A (n.20650+5G>A) c.20449+5G>A (n.20449+5G>A) c.20074+5G>A (n.20074+5G>A) c.47269+5G>A (n.47269+5G>A) c.42346+5G>A (n.42346+5G>A) n.1605-1569C>T c.46366+5G>A (n.46366+5G>A) c.20260+5G>A (n.20260+5G>A) c.20119+5G>A (n.20119+5G>A) c.46162+5G>A (n.46162+5G>A) c.41560+5G>A (n.41560+5G>A) c.41557+5G>A (n.41557+5G>A) c.38599+5G>A (n.38599+5G>A) c.20215+5G>A (n.20215+5G>A) c.41710+5G>A (n.41710+5G>A) c.41707+5G>A (n.41707+5G>A) c.41140+5G>A (n.41140+5G>A) c.38482+5G>A (n.38482+5G>A) c.38401+5G>A (n.38401+5G>A) c.20164+5G>A (n.20164+5G>A) c.10018+5G>A (n.10018+5G>A) | |
| 2 | g.178618185T>G | CA60990658 | TTN,TTN-AS1 | c.39565+4A>C (n.39565+4A>C) c.20650+4A>C (n.20650+4A>C) c.20449+4A>C (n.20449+4A>C) c.20074+4A>C (n.20074+4A>C) c.47269+4A>C (n.47269+4A>C) c.42346+4A>C (n.42346+4A>C) n.1605-1568T>G c.46366+4A>C (n.46366+4A>C) c.20260+4A>C (n.20260+4A>C) c.20119+4A>C (n.20119+4A>C) c.46162+4A>C (n.46162+4A>C) c.41560+4A>C (n.41560+4A>C) c.41557+4A>C (n.41557+4A>C) c.38599+4A>C (n.38599+4A>C) c.20215+4A>C (n.20215+4A>C) c.41710+4A>C (n.41710+4A>C) c.41707+4A>C (n.41707+4A>C) c.41140+4A>C (n.41140+4A>C) c.38482+4A>C (n.38482+4A>C) c.38401+4A>C (n.38401+4A>C) c.20164+4A>C (n.20164+4A>C) c.10018+4A>C (n.10018+4A>C) | dbSNP |
| 2 | g.178618185T= | CA1310550947 | TTN,TTN-AS1 | c.39565+4A= (n.39565+4A=) c.20650+4A= (n.20650+4A=) c.20449+4A= (n.20449+4A=) c.20074+4A= (n.20074+4A=) c.47269+4A= (n.47269+4A=) c.42346+4A= (n.42346+4A=) n.1605-1568T= c.46366+4A= (n.46366+4A=) c.20260+4A= (n.20260+4A=) c.20119+4A= (n.20119+4A=) c.46162+4A= (n.46162+4A=) c.41560+4A= (n.41560+4A=) c.41557+4A= (n.41557+4A=) c.38599+4A= (n.38599+4A=) c.20215+4A= (n.20215+4A=) c.41710+4A= (n.41710+4A=) c.41707+4A= (n.41707+4A=) c.41140+4A= (n.41140+4A=) c.38482+4A= (n.38482+4A=) c.38401+4A= (n.38401+4A=) c.20164+4A= (n.20164+4A=) c.10018+4A= (n.10018+4A=) | |
| 2 | g.178618186T>A | CA1310550949 | TTN,TTN-AS1 | c.39565+3A>T (n.39565+3A>T) c.20650+3A>T (n.20650+3A>T) c.20449+3A>T (n.20449+3A>T) c.20074+3A>T (n.20074+3A>T) c.47269+3A>T (n.47269+3A>T) c.42346+3A>T (n.42346+3A>T) n.1605-1567T>A c.46366+3A>T (n.46366+3A>T) c.20260+3A>T (n.20260+3A>T) c.20119+3A>T (n.20119+3A>T) c.46162+3A>T (n.46162+3A>T) c.41560+3A>T (n.41560+3A>T) c.41557+3A>T (n.41557+3A>T) c.38599+3A>T (n.38599+3A>T) c.20215+3A>T (n.20215+3A>T) c.41710+3A>T (n.41710+3A>T) c.41707+3A>T (n.41707+3A>T) c.41140+3A>T (n.41140+3A>T) c.38482+3A>T (n.38482+3A>T) c.38401+3A>T (n.38401+3A>T) c.20164+3A>T (n.20164+3A>T) c.10018+3A>T (n.10018+3A>T) | dbSNP |
| 2 | g.178618186T= | CA1310550948 | TTN,TTN-AS1 | c.39565+3A= (n.39565+3A=) c.20650+3A= (n.20650+3A=) c.20449+3A= (n.20449+3A=) c.20074+3A= (n.20074+3A=) c.47269+3A= (n.47269+3A=) c.42346+3A= (n.42346+3A=) n.1605-1567T= c.46366+3A= (n.46366+3A=) c.20260+3A= (n.20260+3A=) c.20119+3A= (n.20119+3A=) c.46162+3A= (n.46162+3A=) c.41560+3A= (n.41560+3A=) c.41557+3A= (n.41557+3A=) c.38599+3A= (n.38599+3A=) c.20215+3A= (n.20215+3A=) c.41710+3A= (n.41710+3A=) c.41707+3A= (n.41707+3A=) c.41140+3A= (n.41140+3A=) c.38482+3A= (n.38482+3A=) c.38401+3A= (n.38401+3A=) c.20164+3A= (n.20164+3A=) c.10018+3A= (n.10018+3A=) | |
| 2 | g.178618187A= | CA1310550950 | TTN,TTN-AS1 | c.39565+2T= (n.39565+2T=) c.20650+2T= (n.20650+2T=) c.20449+2T= (n.20449+2T=) c.20074+2T= (n.20074+2T=) c.47269+2T= (n.47269+2T=) c.42346+2T= (n.42346+2T=) n.1605-1566A= c.46366+2T= (n.46366+2T=) c.20260+2T= (n.20260+2T=) c.20119+2T= (n.20119+2T=) c.46162+2T= (n.46162+2T=) c.41560+2T= (n.41560+2T=) c.41557+2T= (n.41557+2T=) c.38599+2T= (n.38599+2T=) c.20215+2T= (n.20215+2T=) c.41710+2T= (n.41710+2T=) c.41707+2T= (n.41707+2T=) c.41140+2T= (n.41140+2T=) c.38482+2T= (n.38482+2T=) c.38401+2T= (n.38401+2T=) c.20164+2T= (n.20164+2T=) c.10018+2T= (n.10018+2T=) | |
| 2 | g.178618187A>C | CA349618540 | TTN,TTN-AS1 | c.39565+2T>G (n.39565+2T>G) c.20650+2T>G (n.20650+2T>G) c.20449+2T>G (n.20449+2T>G) c.20074+2T>G (n.20074+2T>G) c.47269+2T>G (n.47269+2T>G) c.42346+2T>G (n.42346+2T>G) n.1605-1566A>C c.46366+2T>G (n.46366+2T>G) c.20260+2T>G (n.20260+2T>G) c.20119+2T>G (n.20119+2T>G) c.46162+2T>G (n.46162+2T>G) c.41560+2T>G (n.41560+2T>G) c.41557+2T>G (n.41557+2T>G) c.38599+2T>G (n.38599+2T>G) c.20215+2T>G (n.20215+2T>G) c.41710+2T>G (n.41710+2T>G) c.41707+2T>G (n.41707+2T>G) c.41140+2T>G (n.41140+2T>G) c.38482+2T>G (n.38482+2T>G) c.38401+2T>G (n.38401+2T>G) c.20164+2T>G (n.20164+2T>G) c.10018+2T>G (n.10018+2T>G) | gnomAD v4 |
| 2 | g.178618187A>G | CA16610398 | TTN,TTN-AS1 | c.39565+2T>C (n.39565+2T>C) c.20650+2T>C (n.20650+2T>C) c.20449+2T>C (n.20449+2T>C) c.20074+2T>C (n.20074+2T>C) c.47269+2T>C (n.47269+2T>C) c.42346+2T>C (n.42346+2T>C) n.1605-1566A>G c.46366+2T>C (n.46366+2T>C) c.20260+2T>C (n.20260+2T>C) c.20119+2T>C (n.20119+2T>C) c.46162+2T>C (n.46162+2T>C) c.41560+2T>C (n.41560+2T>C) c.41557+2T>C (n.41557+2T>C) c.38599+2T>C (n.38599+2T>C) c.20215+2T>C (n.20215+2T>C) c.41710+2T>C (n.41710+2T>C) c.41707+2T>C (n.41707+2T>C) c.41140+2T>C (n.41140+2T>C) c.38482+2T>C (n.38482+2T>C) c.38401+2T>C (n.38401+2T>C) c.20164+2T>C (n.20164+2T>C) c.10018+2T>C (n.10018+2T>C) | ClinVar dbSNP |
| 2 | g.178618187A>T | CA349618558 | TTN,TTN-AS1 | c.39565+2T>A (n.39565+2T>A) c.20650+2T>A (n.20650+2T>A) c.20449+2T>A (n.20449+2T>A) c.20074+2T>A (n.20074+2T>A) c.47269+2T>A (n.47269+2T>A) c.42346+2T>A (n.42346+2T>A) n.1605-1566A>T c.46366+2T>A (n.46366+2T>A) c.20260+2T>A (n.20260+2T>A) c.20119+2T>A (n.20119+2T>A) c.46162+2T>A (n.46162+2T>A) c.41560+2T>A (n.41560+2T>A) c.41557+2T>A (n.41557+2T>A) c.38599+2T>A (n.38599+2T>A) c.20215+2T>A (n.20215+2T>A) c.41710+2T>A (n.41710+2T>A) c.41707+2T>A (n.41707+2T>A) c.41140+2T>A (n.41140+2T>A) c.38482+2T>A (n.38482+2T>A) c.38401+2T>A (n.38401+2T>A) c.20164+2T>A (n.20164+2T>A) c.10018+2T>A (n.10018+2T>A) | |
| 2 | g.178618188C>A | CA349618559 | TTN,TTN-AS1 | c.39565+1G>T (n.39565+1G>T) c.20650+1G>T (n.20650+1G>T) c.20449+1G>T (n.20449+1G>T) c.20074+1G>T (n.20074+1G>T) c.47269+1G>T (n.47269+1G>T) c.42346+1G>T (n.42346+1G>T) n.1605-1565C>A c.46366+1G>T (n.46366+1G>T) c.20260+1G>T (n.20260+1G>T) c.20119+1G>T (n.20119+1G>T) c.46162+1G>T (n.46162+1G>T) c.41560+1G>T (n.41560+1G>T) c.41557+1G>T (n.41557+1G>T) c.38599+1G>T (n.38599+1G>T) c.20215+1G>T (n.20215+1G>T) c.41710+1G>T (n.41710+1G>T) c.41707+1G>T (n.41707+1G>T) c.41140+1G>T (n.41140+1G>T) c.38482+1G>T (n.38482+1G>T) c.38401+1G>T (n.38401+1G>T) c.20164+1G>T (n.20164+1G>T) c.10018+1G>T (n.10018+1G>T) | |
| 2 | g.178618188C>G | CA349618560 | TTN,TTN-AS1 | c.39565+1G>C (n.39565+1G>C) c.20650+1G>C (n.20650+1G>C) c.20449+1G>C (n.20449+1G>C) c.20074+1G>C (n.20074+1G>C) c.47269+1G>C (n.47269+1G>C) c.42346+1G>C (n.42346+1G>C) n.1605-1565C>G c.46366+1G>C (n.46366+1G>C) c.20260+1G>C (n.20260+1G>C) c.20119+1G>C (n.20119+1G>C) c.46162+1G>C (n.46162+1G>C) c.41560+1G>C (n.41560+1G>C) c.41557+1G>C (n.41557+1G>C) c.38599+1G>C (n.38599+1G>C) c.20215+1G>C (n.20215+1G>C) c.41710+1G>C (n.41710+1G>C) c.41707+1G>C (n.41707+1G>C) c.41140+1G>C (n.41140+1G>C) c.38482+1G>C (n.38482+1G>C) c.38401+1G>C (n.38401+1G>C) c.20164+1G>C (n.20164+1G>C) c.10018+1G>C (n.10018+1G>C) | |
| 2 | g.178618188C>T | CA349618562 | TTN,TTN-AS1 | c.39565+1G>A (n.39565+1G>A) c.20650+1G>A (n.20650+1G>A) c.20449+1G>A (n.20449+1G>A) c.20074+1G>A (n.20074+1G>A) c.47269+1G>A (n.47269+1G>A) c.42346+1G>A (n.42346+1G>A) n.1605-1565C>T c.46366+1G>A (n.46366+1G>A) c.20260+1G>A (n.20260+1G>A) c.20119+1G>A (n.20119+1G>A) c.46162+1G>A (n.46162+1G>A) c.41560+1G>A (n.41560+1G>A) c.41557+1G>A (n.41557+1G>A) c.38599+1G>A (n.38599+1G>A) c.20215+1G>A (n.20215+1G>A) c.41710+1G>A (n.41710+1G>A) c.41707+1G>A (n.41707+1G>A) c.41140+1G>A (n.41140+1G>A) c.38482+1G>A (n.38482+1G>A) c.38401+1G>A (n.38401+1G>A) c.20164+1G>A (n.20164+1G>A) c.10018+1G>A (n.10018+1G>A) | |
| 2 | g.178618189C>A | CA349618575 | TTN,TTN-AS1 | c.39565G>T (p.Asp13189Tyr) c.20650G>T (p.Asp6884Tyr) c.20449G>T (p.Asp6817Tyr) c.20074G>T (p.Asp6692Tyr) c.47269G>T (p.Asp15757Tyr) c.42346G>T (p.Asp14116Tyr) n.1605-1564C>A c.46366G>T (p.Asp15456Tyr) c.20260G>T (p.Asp6754Tyr) c.20119G>T (p.Asp6707Tyr) c.46162G>T (p.Asp15388Tyr) c.41560G>T (p.Asp13854Tyr) c.41557G>T (p.Asp13853Tyr) c.38599G>T (p.Asp12867Tyr) c.20215G>T (p.Asp6739Tyr) c.41710G>T (p.Asp13904Tyr) c.41707G>T (p.Asp13903Tyr) c.41140G>T (p.Asp13714Tyr) c.38482G>T (p.Asp12828Tyr) c.38401G>T (p.Asp12801Tyr) c.20164G>T (p.Asp6722Tyr) c.10018G>T (p.Asp3340Tyr) | |
| 2 | g.178618189C>G | CA349618576 | TTN,TTN-AS1 | c.39565G>C (p.Asp13189His) c.20650G>C (p.Asp6884His) c.20449G>C (p.Asp6817His) c.20074G>C (p.Asp6692His) c.47269G>C (p.Asp15757His) c.42346G>C (p.Asp14116His) n.1605-1564C>G c.46366G>C (p.Asp15456His) c.20260G>C (p.Asp6754His) c.20119G>C (p.Asp6707His) c.46162G>C (p.Asp15388His) c.41560G>C (p.Asp13854His) c.41557G>C (p.Asp13853His) c.38599G>C (p.Asp12867His) c.20215G>C (p.Asp6739His) c.41710G>C (p.Asp13904His) c.41707G>C (p.Asp13903His) c.41140G>C (p.Asp13714His) c.38482G>C (p.Asp12828His) c.38401G>C (p.Asp12801His) c.20164G>C (p.Asp6722His) c.10018G>C (p.Asp3340His) | |
| 2 | g.178618189C>T | CA349618573 | TTN,TTN-AS1 | c.39565G>A (p.Asp13189Asn) c.20650G>A (p.Asp6884Asn) c.20449G>A (p.Asp6817Asn) c.20074G>A (p.Asp6692Asn) c.47269G>A (p.Asp15757Asn) c.42346G>A (p.Asp14116Asn) n.1605-1564C>T c.46366G>A (p.Asp15456Asn) c.20260G>A (p.Asp6754Asn) c.20119G>A (p.Asp6707Asn) c.46162G>A (p.Asp15388Asn) c.41560G>A (p.Asp13854Asn) c.41557G>A (p.Asp13853Asn) c.38599G>A (p.Asp12867Asn) c.20215G>A (p.Asp6739Asn) c.41710G>A (p.Asp13904Asn) c.41707G>A (p.Asp13903Asn) c.41140G>A (p.Asp13714Asn) c.38482G>A (p.Asp12828Asn) c.38401G>A (p.Asp12801Asn) c.20164G>A (p.Asp6722Asn) c.10018G>A (p.Asp3340Asn) | gnomAD v4 |
| 2 | g.178618190A= | CA1310550951 | TTN,TTN-AS1 | c.39564T= (p.Tyr13188=) c.20649T= (p.Tyr6883=) c.20448T= (p.Tyr6816=) c.20073T= (p.Tyr6691=) c.47268T= (p.Tyr15756=) c.42345T= (p.Tyr14115=) n.1605-1563A= c.46365T= (p.Tyr15455=) c.20259T= (p.Tyr6753=) c.20118T= (p.Tyr6706=) c.46161T= (p.Tyr15387=) c.41559T= (p.Tyr13853=) c.41556T= (p.Tyr13852=) c.38598T= (p.Tyr12866=) c.20214T= (p.Tyr6738=) c.41709T= (p.Tyr13903=) c.41706T= (p.Tyr13902=) c.41139T= (p.Tyr13713=) c.38481T= (p.Tyr12827=) c.38400T= (p.Tyr12800=) c.20163T= (p.Tyr6721=) c.10017T= (p.Tyr3339=) | |
| 2 | g.178618190A>C | CA349618579 | TTN,TTN-AS1 | c.39564T>G (p.Tyr13188Ter) c.20649T>G (p.Tyr6883Ter) c.20448T>G (p.Tyr6816Ter) c.20073T>G (p.Tyr6691Ter) c.47268T>G (p.Tyr15756Ter) c.42345T>G (p.Tyr14115Ter) n.1605-1563A>C c.46365T>G (p.Tyr15455Ter) c.20259T>G (p.Tyr6753Ter) c.20118T>G (p.Tyr6706Ter) c.46161T>G (p.Tyr15387Ter) c.41559T>G (p.Tyr13853Ter) c.41556T>G (p.Tyr13852Ter) c.38598T>G (p.Tyr12866Ter) c.20214T>G (p.Tyr6738Ter) c.41709T>G (p.Tyr13903Ter) c.41706T>G (p.Tyr13902Ter) c.41139T>G (p.Tyr13713Ter) c.38481T>G (p.Tyr12827Ter) c.38400T>G (p.Tyr12800Ter) c.20163T>G (p.Tyr6721Ter) c.10017T>G (p.Tyr3339Ter) | |
| 2 | g.178618190A>G | CA1995095 | TTN,TTN-AS1 | c.39564T>C (p.Tyr13188=) c.20649T>C (p.Tyr6883=) c.20448T>C (p.Tyr6816=) c.20073T>C (p.Tyr6691=) c.47268T>C (p.Tyr15756=) c.42345T>C (p.Tyr14115=) n.1605-1563A>G c.46365T>C (p.Tyr15455=) c.20259T>C (p.Tyr6753=) c.20118T>C (p.Tyr6706=) c.46161T>C (p.Tyr15387=) c.41559T>C (p.Tyr13853=) c.41556T>C (p.Tyr13852=) c.38598T>C (p.Tyr12866=) c.20214T>C (p.Tyr6738=) c.41709T>C (p.Tyr13903=) c.41706T>C (p.Tyr13902=) c.41139T>C (p.Tyr13713=) c.38481T>C (p.Tyr12827=) c.38400T>C (p.Tyr12800=) c.20163T>C (p.Tyr6721=) c.10017T>C (p.Tyr3339=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178618190A>T | CA349618597 | TTN,TTN-AS1 | c.39564T>A (p.Tyr13188Ter) c.20649T>A (p.Tyr6883Ter) c.20448T>A (p.Tyr6816Ter) c.20073T>A (p.Tyr6691Ter) c.47268T>A (p.Tyr15756Ter) c.42345T>A (p.Tyr14115Ter) n.1605-1563A>T c.46365T>A (p.Tyr15455Ter) c.20259T>A (p.Tyr6753Ter) c.20118T>A (p.Tyr6706Ter) c.46161T>A (p.Tyr15387Ter) c.41559T>A (p.Tyr13853Ter) c.41556T>A (p.Tyr13852Ter) c.38598T>A (p.Tyr12866Ter) c.20214T>A (p.Tyr6738Ter) c.41709T>A (p.Tyr13903Ter) c.41706T>A (p.Tyr13902Ter) c.41139T>A (p.Tyr13713Ter) c.38481T>A (p.Tyr12827Ter) c.38400T>A (p.Tyr12800Ter) c.20163T>A (p.Tyr6721Ter) c.10017T>A (p.Tyr3339Ter) | ClinVar |
| 2 | g.178618191T>A | CA349618601 | TTN,TTN-AS1 | c.39563A>T (p.Tyr13188Phe) c.20648A>T (p.Tyr6883Phe) c.20447A>T (p.Tyr6816Phe) c.20072A>T (p.Tyr6691Phe) c.47267A>T (p.Tyr15756Phe) c.42344A>T (p.Tyr14115Phe) n.1605-1562T>A c.46364A>T (p.Tyr15455Phe) c.20258A>T (p.Tyr6753Phe) c.20117A>T (p.Tyr6706Phe) c.46160A>T (p.Tyr15387Phe) c.41558A>T (p.Tyr13853Phe) c.41555A>T (p.Tyr13852Phe) c.38597A>T (p.Tyr12866Phe) c.20213A>T (p.Tyr6738Phe) c.41708A>T (p.Tyr13903Phe) c.41705A>T (p.Tyr13902Phe) c.41138A>T (p.Tyr13713Phe) c.38480A>T (p.Tyr12827Phe) c.38399A>T (p.Tyr12800Phe) c.20162A>T (p.Tyr6721Phe) c.10016A>T (p.Tyr3339Phe) | |
| 2 | g.178618191T>C | CA349618602 | TTN,TTN-AS1 | c.39563A>G (p.Tyr13188Cys) c.20648A>G (p.Tyr6883Cys) c.20447A>G (p.Tyr6816Cys) c.20072A>G (p.Tyr6691Cys) c.47267A>G (p.Tyr15756Cys) c.42344A>G (p.Tyr14115Cys) n.1605-1562T>C c.46364A>G (p.Tyr15455Cys) c.20258A>G (p.Tyr6753Cys) c.20117A>G (p.Tyr6706Cys) c.46160A>G (p.Tyr15387Cys) c.41558A>G (p.Tyr13853Cys) c.41555A>G (p.Tyr13852Cys) c.38597A>G (p.Tyr12866Cys) c.20213A>G (p.Tyr6738Cys) c.41708A>G (p.Tyr13903Cys) c.41705A>G (p.Tyr13902Cys) c.41138A>G (p.Tyr13713Cys) c.38480A>G (p.Tyr12827Cys) c.38399A>G (p.Tyr12800Cys) c.20162A>G (p.Tyr6721Cys) c.10016A>G (p.Tyr3339Cys) | |
| 2 | g.178618191T>G | CA349618604 | TTN,TTN-AS1 | c.39563A>C (p.Tyr13188Ser) c.20648A>C (p.Tyr6883Ser) c.20447A>C (p.Tyr6816Ser) c.20072A>C (p.Tyr6691Ser) c.47267A>C (p.Tyr15756Ser) c.42344A>C (p.Tyr14115Ser) n.1605-1562T>G c.46364A>C (p.Tyr15455Ser) c.20258A>C (p.Tyr6753Ser) c.20117A>C (p.Tyr6706Ser) c.46160A>C (p.Tyr15387Ser) c.41558A>C (p.Tyr13853Ser) c.41555A>C (p.Tyr13852Ser) c.38597A>C (p.Tyr12866Ser) c.20213A>C (p.Tyr6738Ser) c.41708A>C (p.Tyr13903Ser) c.41705A>C (p.Tyr13902Ser) c.41138A>C (p.Tyr13713Ser) c.38480A>C (p.Tyr12827Ser) c.38399A>C (p.Tyr12800Ser) c.20162A>C (p.Tyr6721Ser) c.10016A>C (p.Tyr3339Ser) | |
| 2 | g.178618192A>C | CA349618612 | TTN,TTN-AS1 | c.39562T>G (p.Tyr13188Asp) c.20647T>G (p.Tyr6883Asp) c.20446T>G (p.Tyr6816Asp) c.20071T>G (p.Tyr6691Asp) c.47266T>G (p.Tyr15756Asp) c.42343T>G (p.Tyr14115Asp) n.1605-1561A>C c.46363T>G (p.Tyr15455Asp) c.20257T>G (p.Tyr6753Asp) c.20116T>G (p.Tyr6706Asp) c.46159T>G (p.Tyr15387Asp) c.41557T>G (p.Tyr13853Asp) c.41554T>G (p.Tyr13852Asp) c.38596T>G (p.Tyr12866Asp) c.20212T>G (p.Tyr6738Asp) c.41707T>G (p.Tyr13903Asp) c.41704T>G (p.Tyr13902Asp) c.41137T>G (p.Tyr13713Asp) c.38479T>G (p.Tyr12827Asp) c.38398T>G (p.Tyr12800Asp) c.20161T>G (p.Tyr6721Asp) c.10015T>G (p.Tyr3339Asp) | |
| 2 | g.178618192A>G | CA349618608 | TTN,TTN-AS1 | c.39562T>C (p.Tyr13188His) c.20647T>C (p.Tyr6883His) c.20446T>C (p.Tyr6816His) c.20071T>C (p.Tyr6691His) c.47266T>C (p.Tyr15756His) c.42343T>C (p.Tyr14115His) n.1605-1561A>G c.46363T>C (p.Tyr15455His) c.20257T>C (p.Tyr6753His) c.20116T>C (p.Tyr6706His) c.46159T>C (p.Tyr15387His) c.41557T>C (p.Tyr13853His) c.41554T>C (p.Tyr13852His) c.38596T>C (p.Tyr12866His) c.20212T>C (p.Tyr6738His) c.41707T>C (p.Tyr13903His) c.41704T>C (p.Tyr13902His) c.41137T>C (p.Tyr13713His) c.38479T>C (p.Tyr12827His) c.38398T>C (p.Tyr12800His) c.20161T>C (p.Tyr6721His) c.10015T>C (p.Tyr3339His) | |
| 2 | g.178618192A>T | CA349618609 | TTN,TTN-AS1 | c.39562T>A (p.Tyr13188Asn) c.20647T>A (p.Tyr6883Asn) c.20446T>A (p.Tyr6816Asn) c.20071T>A (p.Tyr6691Asn) c.47266T>A (p.Tyr15756Asn) c.42343T>A (p.Tyr14115Asn) n.1605-1561A>T c.46363T>A (p.Tyr15455Asn) c.20257T>A (p.Tyr6753Asn) c.20116T>A (p.Tyr6706Asn) c.46159T>A (p.Tyr15387Asn) c.41557T>A (p.Tyr13853Asn) c.41554T>A (p.Tyr13852Asn) c.38596T>A (p.Tyr12866Asn) c.20212T>A (p.Tyr6738Asn) c.41707T>A (p.Tyr13903Asn) c.41704T>A (p.Tyr13902Asn) c.41137T>A (p.Tyr13713Asn) c.38479T>A (p.Tyr12827Asn) c.38398T>A (p.Tyr12800Asn) c.20161T>A (p.Tyr6721Asn) c.10015T>A (p.Tyr3339Asn) | |
| 2 | g.178618193T>A | CA349618614 | TTN,TTN-AS1 | c.39561A>T (p.Lys13187Asn) c.20646A>T (p.Lys6882Asn) c.20445A>T (p.Lys6815Asn) c.20070A>T (p.Lys6690Asn) c.47265A>T (p.Lys15755Asn) c.42342A>T (p.Lys14114Asn) n.1605-1560T>A c.46362A>T (p.Lys15454Asn) c.20256A>T (p.Lys6752Asn) c.20115A>T (p.Lys6705Asn) c.46158A>T (p.Lys15386Asn) c.41556A>T (p.Lys13852Asn) c.41553A>T (p.Lys13851Asn) c.38595A>T (p.Lys12865Asn) c.20211A>T (p.Lys6737Asn) c.41706A>T (p.Lys13902Asn) c.41703A>T (p.Lys13901Asn) c.41136A>T (p.Lys13712Asn) c.38478A>T (p.Lys12826Asn) c.38397A>T (p.Lys12799Asn) c.20160A>T (p.Lys6720Asn) c.10014A>T (p.Lys3338Asn) | |
| 2 | g.178618193T>C | CA60990661 | TTN,TTN-AS1 | c.39561A>G (p.Lys13187=) c.20646A>G (p.Lys6882=) c.20445A>G (p.Lys6815=) c.20070A>G (p.Lys6690=) c.47265A>G (p.Lys15755=) c.42342A>G (p.Lys14114=) n.1605-1560T>C c.46362A>G (p.Lys15454=) c.20256A>G (p.Lys6752=) c.20115A>G (p.Lys6705=) c.46158A>G (p.Lys15386=) c.41556A>G (p.Lys13852=) c.41553A>G (p.Lys13851=) c.38595A>G (p.Lys12865=) c.20211A>G (p.Lys6737=) c.41706A>G (p.Lys13902=) c.41703A>G (p.Lys13901=) c.41136A>G (p.Lys13712=) c.38478A>G (p.Lys12826=) c.38397A>G (p.Lys12799=) c.20160A>G (p.Lys6720=) c.10014A>G (p.Lys3338=) | dbSNP gnomAD v4 |
| 2 | g.178618193T>G | CA349618615 | TTN,TTN-AS1 | c.39561A>C (p.Lys13187Asn) c.20646A>C (p.Lys6882Asn) c.20445A>C (p.Lys6815Asn) c.20070A>C (p.Lys6690Asn) c.47265A>C (p.Lys15755Asn) c.42342A>C (p.Lys14114Asn) n.1605-1560T>G c.46362A>C (p.Lys15454Asn) c.20256A>C (p.Lys6752Asn) c.20115A>C (p.Lys6705Asn) c.46158A>C (p.Lys15386Asn) c.41556A>C (p.Lys13852Asn) c.41553A>C (p.Lys13851Asn) c.38595A>C (p.Lys12865Asn) c.20211A>C (p.Lys6737Asn) c.41706A>C (p.Lys13902Asn) c.41703A>C (p.Lys13901Asn) c.41136A>C (p.Lys13712Asn) c.38478A>C (p.Lys12826Asn) c.38397A>C (p.Lys12799Asn) c.20160A>C (p.Lys6720Asn) c.10014A>C (p.Lys3338Asn) | gnomAD v4 |
| 2 | g.178618193T= | CA1310550952 | TTN,TTN-AS1 | c.39561A= (p.Lys13187=) c.20646A= (p.Lys6882=) c.20445A= (p.Lys6815=) c.20070A= (p.Lys6690=) c.47265A= (p.Lys15755=) c.42342A= (p.Lys14114=) n.1605-1560T= c.46362A= (p.Lys15454=) c.20256A= (p.Lys6752=) c.20115A= (p.Lys6705=) c.46158A= (p.Lys15386=) c.41556A= (p.Lys13852=) c.41553A= (p.Lys13851=) c.38595A= (p.Lys12865=) c.20211A= (p.Lys6737=) c.41706A= (p.Lys13902=) c.41703A= (p.Lys13901=) c.41136A= (p.Lys13712=) c.38478A= (p.Lys12826=) c.38397A= (p.Lys12799=) c.20160A= (p.Lys6720=) c.10014A= (p.Lys3338=) | |
| 2 | g.178618194T>A | CA349618616 | TTN,TTN-AS1 | c.39560A>T (p.Lys13187Ile) c.20645A>T (p.Lys6882Ile) c.20444A>T (p.Lys6815Ile) c.20069A>T (p.Lys6690Ile) c.47264A>T (p.Lys15755Ile) c.42341A>T (p.Lys14114Ile) n.1605-1559T>A c.46361A>T (p.Lys15454Ile) c.20255A>T (p.Lys6752Ile) c.20114A>T (p.Lys6705Ile) c.46157A>T (p.Lys15386Ile) c.41555A>T (p.Lys13852Ile) c.41552A>T (p.Lys13851Ile) c.38594A>T (p.Lys12865Ile) c.20210A>T (p.Lys6737Ile) c.41705A>T (p.Lys13902Ile) c.41702A>T (p.Lys13901Ile) c.41135A>T (p.Lys13712Ile) c.38477A>T (p.Lys12826Ile) c.38396A>T (p.Lys12799Ile) c.20159A>T (p.Lys6720Ile) c.10013A>T (p.Lys3338Ile) | |
| 2 | g.178618194T>C | CA349618620 | TTN,TTN-AS1 | c.39560A>G (p.Lys13187Arg) c.20645A>G (p.Lys6882Arg) c.20444A>G (p.Lys6815Arg) c.20069A>G (p.Lys6690Arg) c.47264A>G (p.Lys15755Arg) c.42341A>G (p.Lys14114Arg) n.1605-1559T>C c.46361A>G (p.Lys15454Arg) c.20255A>G (p.Lys6752Arg) c.20114A>G (p.Lys6705Arg) c.46157A>G (p.Lys15386Arg) c.41555A>G (p.Lys13852Arg) c.41552A>G (p.Lys13851Arg) c.38594A>G (p.Lys12865Arg) c.20210A>G (p.Lys6737Arg) c.41705A>G (p.Lys13902Arg) c.41702A>G (p.Lys13901Arg) c.41135A>G (p.Lys13712Arg) c.38477A>G (p.Lys12826Arg) c.38396A>G (p.Lys12799Arg) c.20159A>G (p.Lys6720Arg) c.10013A>G (p.Lys3338Arg) | |
| 2 | g.178618194T>G | CA349618625 | TTN,TTN-AS1 | c.39560A>C (p.Lys13187Thr) c.20645A>C (p.Lys6882Thr) c.20444A>C (p.Lys6815Thr) c.20069A>C (p.Lys6690Thr) c.47264A>C (p.Lys15755Thr) c.42341A>C (p.Lys14114Thr) n.1605-1559T>G c.46361A>C (p.Lys15454Thr) c.20255A>C (p.Lys6752Thr) c.20114A>C (p.Lys6705Thr) c.46157A>C (p.Lys15386Thr) c.41555A>C (p.Lys13852Thr) c.41552A>C (p.Lys13851Thr) c.38594A>C (p.Lys12865Thr) c.20210A>C (p.Lys6737Thr) c.41705A>C (p.Lys13902Thr) c.41702A>C (p.Lys13901Thr) c.41135A>C (p.Lys13712Thr) c.38477A>C (p.Lys12826Thr) c.38396A>C (p.Lys12799Thr) c.20159A>C (p.Lys6720Thr) c.10013A>C (p.Lys3338Thr) | |
| 2 | g.178618195T>A | CA349618628 | TTN,TTN-AS1 | c.39559A>T (p.Lys13187Ter) c.20644A>T (p.Lys6882Ter) c.20443A>T (p.Lys6815Ter) c.20068A>T (p.Lys6690Ter) c.47263A>T (p.Lys15755Ter) c.42340A>T (p.Lys14114Ter) n.1605-1558T>A c.46360A>T (p.Lys15454Ter) c.20254A>T (p.Lys6752Ter) c.20113A>T (p.Lys6705Ter) c.46156A>T (p.Lys15386Ter) c.41554A>T (p.Lys13852Ter) c.41551A>T (p.Lys13851Ter) c.38593A>T (p.Lys12865Ter) c.20209A>T (p.Lys6737Ter) c.41704A>T (p.Lys13902Ter) c.41701A>T (p.Lys13901Ter) c.41134A>T (p.Lys13712Ter) c.38476A>T (p.Lys12826Ter) c.38395A>T (p.Lys12799Ter) c.20158A>T (p.Lys6720Ter) c.10012A>T (p.Lys3338Ter) | |
| 2 | g.178618195T>C | CA349618634 | TTN,TTN-AS1 | c.39559A>G (p.Lys13187Glu) c.20644A>G (p.Lys6882Glu) c.20443A>G (p.Lys6815Glu) c.20068A>G (p.Lys6690Glu) c.47263A>G (p.Lys15755Glu) c.42340A>G (p.Lys14114Glu) n.1605-1558T>C c.46360A>G (p.Lys15454Glu) c.20254A>G (p.Lys6752Glu) c.20113A>G (p.Lys6705Glu) c.46156A>G (p.Lys15386Glu) c.41554A>G (p.Lys13852Glu) c.41551A>G (p.Lys13851Glu) c.38593A>G (p.Lys12865Glu) c.20209A>G (p.Lys6737Glu) c.41704A>G (p.Lys13902Glu) c.41701A>G (p.Lys13901Glu) c.41134A>G (p.Lys13712Glu) c.38476A>G (p.Lys12826Glu) c.38395A>G (p.Lys12799Glu) c.20158A>G (p.Lys6720Glu) c.10012A>G (p.Lys3338Glu) | |
| 2 | g.178618195T>G | CA349618631 | TTN,TTN-AS1 | c.39559A>C (p.Lys13187Gln) c.20644A>C (p.Lys6882Gln) c.20443A>C (p.Lys6815Gln) c.20068A>C (p.Lys6690Gln) c.47263A>C (p.Lys15755Gln) c.42340A>C (p.Lys14114Gln) n.1605-1558T>G c.46360A>C (p.Lys15454Gln) c.20254A>C (p.Lys6752Gln) c.20113A>C (p.Lys6705Gln) c.46156A>C (p.Lys15386Gln) c.41554A>C (p.Lys13852Gln) c.41551A>C (p.Lys13851Gln) c.38593A>C (p.Lys12865Gln) c.20209A>C (p.Lys6737Gln) c.41704A>C (p.Lys13902Gln) c.41701A>C (p.Lys13901Gln) c.41134A>C (p.Lys13712Gln) c.38476A>C (p.Lys12826Gln) c.38395A>C (p.Lys12799Gln) c.20158A>C (p.Lys6720Gln) c.10012A>C (p.Lys3338Gln) | |
| 2 | g.178618196A>C | CA349618638 | TTN,TTN-AS1 | c.39558T>G (p.Ser13186Arg) c.20643T>G (p.Ser6881Arg) c.20442T>G (p.Ser6814Arg) c.20067T>G (p.Ser6689Arg) c.47262T>G (p.Ser15754Arg) c.42339T>G (p.Ser14113Arg) n.1605-1557A>C c.46359T>G (p.Ser15453Arg) c.20253T>G (p.Ser6751Arg) c.20112T>G (p.Ser6704Arg) c.46155T>G (p.Ser15385Arg) c.41553T>G (p.Ser13851Arg) c.41550T>G (p.Ser13850Arg) c.38592T>G (p.Ser12864Arg) c.20208T>G (p.Ser6736Arg) c.41703T>G (p.Ser13901Arg) c.41700T>G (p.Ser13900Arg) c.41133T>G (p.Ser13711Arg) c.38475T>G (p.Ser12825Arg) c.38394T>G (p.Ser12798Arg) c.20157T>G (p.Ser6719Arg) c.10011T>G (p.Ser3337Arg) | |
| 2 | g.178618196A>G | CA430274590 | TTN,TTN-AS1 | c.39558T>C (p.Ser13186=) c.20643T>C (p.Ser6881=) c.20442T>C (p.Ser6814=) c.20067T>C (p.Ser6689=) c.47262T>C (p.Ser15754=) c.42339T>C (p.Ser14113=) n.1605-1557A>G c.46359T>C (p.Ser15453=) c.20253T>C (p.Ser6751=) c.20112T>C (p.Ser6704=) c.46155T>C (p.Ser15385=) c.41553T>C (p.Ser13851=) c.41550T>C (p.Ser13850=) c.38592T>C (p.Ser12864=) c.20208T>C (p.Ser6736=) c.41703T>C (p.Ser13901=) c.41700T>C (p.Ser13900=) c.41133T>C (p.Ser13711=) c.38475T>C (p.Ser12825=) c.38394T>C (p.Ser12798=) c.20157T>C (p.Ser6719=) c.10011T>C (p.Ser3337=) | |
| 2 | g.178618196A>T | CA349618654 | TTN,TTN-AS1 | c.39558T>A (p.Ser13186Arg) c.20643T>A (p.Ser6881Arg) c.20442T>A (p.Ser6814Arg) c.20067T>A (p.Ser6689Arg) c.47262T>A (p.Ser15754Arg) c.42339T>A (p.Ser14113Arg) n.1605-1557A>T c.46359T>A (p.Ser15453Arg) c.20253T>A (p.Ser6751Arg) c.20112T>A (p.Ser6704Arg) c.46155T>A (p.Ser15385Arg) c.41553T>A (p.Ser13851Arg) c.41550T>A (p.Ser13850Arg) c.38592T>A (p.Ser12864Arg) c.20208T>A (p.Ser6736Arg) c.41703T>A (p.Ser13901Arg) c.41700T>A (p.Ser13900Arg) c.41133T>A (p.Ser13711Arg) c.38475T>A (p.Ser12825Arg) c.38394T>A (p.Ser12798Arg) c.20157T>A (p.Ser6719Arg) c.10011T>A (p.Ser3337Arg) | |
| 2 | g.178618197C>A | CA349618657 | TTN,TTN-AS1 | c.39557G>T (p.Ser13186Ile) c.20642G>T (p.Ser6881Ile) c.20441G>T (p.Ser6814Ile) c.20066G>T (p.Ser6689Ile) c.47261G>T (p.Ser15754Ile) c.42338G>T (p.Ser14113Ile) n.1605-1556C>A c.46358G>T (p.Ser15453Ile) c.20252G>T (p.Ser6751Ile) c.20111G>T (p.Ser6704Ile) c.46154G>T (p.Ser15385Ile) c.41552G>T (p.Ser13851Ile) c.41549G>T (p.Ser13850Ile) c.38591G>T (p.Ser12864Ile) c.20207G>T (p.Ser6736Ile) c.41702G>T (p.Ser13901Ile) c.41699G>T (p.Ser13900Ile) c.41132G>T (p.Ser13711Ile) c.38474G>T (p.Ser12825Ile) c.38393G>T (p.Ser12798Ile) c.20156G>T (p.Ser6719Ile) c.10010G>T (p.Ser3337Ile) | |
| 2 | g.178618197C= | CA1310550953 | TTN,TTN-AS1 | c.39557G= (p.Ser13186=) c.20642G= (p.Ser6881=) c.20441G= (p.Ser6814=) c.20066G= (p.Ser6689=) c.47261G= (p.Ser15754=) c.42338G= (p.Ser14113=) n.1605-1556C= c.46358G= (p.Ser15453=) c.20252G= (p.Ser6751=) c.20111G= (p.Ser6704=) c.46154G= (p.Ser15385=) c.41552G= (p.Ser13851=) c.41549G= (p.Ser13850=) c.38591G= (p.Ser12864=) c.20207G= (p.Ser6736=) c.41702G= (p.Ser13901=) c.41699G= (p.Ser13900=) c.41132G= (p.Ser13711=) c.38474G= (p.Ser12825=) c.38393G= (p.Ser12798=) c.20156G= (p.Ser6719=) c.10010G= (p.Ser3337=) | |
| 2 | g.178618197C>G | CA349618666 | TTN,TTN-AS1 | c.39557G>C (p.Ser13186Thr) c.20642G>C (p.Ser6881Thr) c.20441G>C (p.Ser6814Thr) c.20066G>C (p.Ser6689Thr) c.47261G>C (p.Ser15754Thr) c.42338G>C (p.Ser14113Thr) n.1605-1556C>G c.46358G>C (p.Ser15453Thr) c.20252G>C (p.Ser6751Thr) c.20111G>C (p.Ser6704Thr) c.46154G>C (p.Ser15385Thr) c.41552G>C (p.Ser13851Thr) c.41549G>C (p.Ser13850Thr) c.38591G>C (p.Ser12864Thr) c.20207G>C (p.Ser6736Thr) c.41702G>C (p.Ser13901Thr) c.41699G>C (p.Ser13900Thr) c.41132G>C (p.Ser13711Thr) c.38474G>C (p.Ser12825Thr) c.38393G>C (p.Ser12798Thr) c.20156G>C (p.Ser6719Thr) c.10010G>C (p.Ser3337Thr) | |
| 2 | g.178618197C>T | CA1995096 | TTN,TTN-AS1 | c.39557G>A (p.Ser13186Asn) c.20642G>A (p.Ser6881Asn) c.20441G>A (p.Ser6814Asn) c.20066G>A (p.Ser6689Asn) c.47261G>A (p.Ser15754Asn) c.42338G>A (p.Ser14113Asn) n.1605-1556C>T c.46358G>A (p.Ser15453Asn) c.20252G>A (p.Ser6751Asn) c.20111G>A (p.Ser6704Asn) c.46154G>A (p.Ser15385Asn) c.41552G>A (p.Ser13851Asn) c.41549G>A (p.Ser13850Asn) c.38591G>A (p.Ser12864Asn) c.20207G>A (p.Ser6736Asn) c.41702G>A (p.Ser13901Asn) c.41699G>A (p.Ser13900Asn) c.41132G>A (p.Ser13711Asn) c.38474G>A (p.Ser12825Asn) c.38393G>A (p.Ser12798Asn) c.20156G>A (p.Ser6719Asn) c.10010G>A (p.Ser3337Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178618198T>A | CA349618685 | TTN,TTN-AS1 | c.39556A>T (p.Ser13186Cys) c.20641A>T (p.Ser6881Cys) c.20440A>T (p.Ser6814Cys) c.20065A>T (p.Ser6689Cys) c.47260A>T (p.Ser15754Cys) c.42337A>T (p.Ser14113Cys) n.1605-1555T>A c.46357A>T (p.Ser15453Cys) c.20251A>T (p.Ser6751Cys) c.20110A>T (p.Ser6704Cys) c.46153A>T (p.Ser15385Cys) c.41551A>T (p.Ser13851Cys) c.41548A>T (p.Ser13850Cys) c.38590A>T (p.Ser12864Cys) c.20206A>T (p.Ser6736Cys) c.41701A>T (p.Ser13901Cys) c.41698A>T (p.Ser13900Cys) c.41131A>T (p.Ser13711Cys) c.38473A>T (p.Ser12825Cys) c.38392A>T (p.Ser12798Cys) c.20155A>T (p.Ser6719Cys) c.10009A>T (p.Ser3337Cys) | |
| 2 | g.178618198T>C | CA349618690 | TTN,TTN-AS1 | c.39556A>G (p.Ser13186Gly) c.20641A>G (p.Ser6881Gly) c.20440A>G (p.Ser6814Gly) c.20065A>G (p.Ser6689Gly) c.47260A>G (p.Ser15754Gly) c.42337A>G (p.Ser14113Gly) n.1605-1555T>C c.46357A>G (p.Ser15453Gly) c.20251A>G (p.Ser6751Gly) c.20110A>G (p.Ser6704Gly) c.46153A>G (p.Ser15385Gly) c.41551A>G (p.Ser13851Gly) c.41548A>G (p.Ser13850Gly) c.38590A>G (p.Ser12864Gly) c.20206A>G (p.Ser6736Gly) c.41701A>G (p.Ser13901Gly) c.41698A>G (p.Ser13900Gly) c.41131A>G (p.Ser13711Gly) c.38473A>G (p.Ser12825Gly) c.38392A>G (p.Ser12798Gly) c.20155A>G (p.Ser6719Gly) c.10009A>G (p.Ser3337Gly) | |
| 2 | g.178618198T>G | CA349618691 | TTN,TTN-AS1 | c.39556A>C (p.Ser13186Arg) c.20641A>C (p.Ser6881Arg) c.20440A>C (p.Ser6814Arg) c.20065A>C (p.Ser6689Arg) c.47260A>C (p.Ser15754Arg) c.42337A>C (p.Ser14113Arg) n.1605-1555T>G c.46357A>C (p.Ser15453Arg) c.20251A>C (p.Ser6751Arg) c.20110A>C (p.Ser6704Arg) c.46153A>C (p.Ser15385Arg) c.41551A>C (p.Ser13851Arg) c.41548A>C (p.Ser13850Arg) c.38590A>C (p.Ser12864Arg) c.20206A>C (p.Ser6736Arg) c.41701A>C (p.Ser13901Arg) c.41698A>C (p.Ser13900Arg) c.41131A>C (p.Ser13711Arg) c.38473A>C (p.Ser12825Arg) c.38392A>C (p.Ser12798Arg) c.20155A>C (p.Ser6719Arg) c.10009A>C (p.Ser3337Arg) | dbSNP |
| 2 | g.178618198T= | CA1310550954 | TTN,TTN-AS1 | c.39556A= (p.Ser13186=) c.20641A= (p.Ser6881=) c.20440A= (p.Ser6814=) c.20065A= (p.Ser6689=) c.47260A= (p.Ser15754=) c.42337A= (p.Ser14113=) n.1605-1555T= c.46357A= (p.Ser15453=) c.20251A= (p.Ser6751=) c.20110A= (p.Ser6704=) c.46153A= (p.Ser15385=) c.41551A= (p.Ser13851=) c.41548A= (p.Ser13850=) c.38590A= (p.Ser12864=) c.20206A= (p.Ser6736=) c.41701A= (p.Ser13901=) c.41698A= (p.Ser13900=) c.41131A= (p.Ser13711=) c.38473A= (p.Ser12825=) c.38392A= (p.Ser12798=) c.20155A= (p.Ser6719=) c.10009A= (p.Ser3337=) |