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 |
|---|---|---|---|---|---|
| 2 | g.237340557C>A | CA351195029 | COL6A3 | c.1004G>T c.7741G>T (p.Ala2581Ser) c.362G>T n.626G>T c.8359G>T (p.Ala2787Ser) c.6535G>T (p.Ala2179Ser) n.46G>T c.6538G>T (p.Ala2180Ser) n.4801G>T c.7759G>T (p.Ala2587Ser) c.7138G>T (p.Ala2380Ser) c.7858G>T (p.Ala2620Ser) c.8356G>T (p.Ala2786Ser) c.5953G>T (p.Ala1985Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237340557C= | CA1337608604 | COL6A3 | c.1004G= c.7741G= (p.Ala2581=) c.362G= n.626G= c.8359G= (p.Ala2787=) c.6535G= (p.Ala2179=) n.46G= c.6538G= (p.Ala2180=) n.4801G= c.7759G= (p.Ala2587=) c.7138G= (p.Ala2380=) c.7858G= (p.Ala2620=) c.8356G= (p.Ala2786=) c.5953G= (p.Ala1985=) | |
| 2 | g.237340557C>G | CA351195032 | COL6A3 | c.1004G>C c.7741G>C (p.Ala2581Pro) c.362G>C n.626G>C c.8359G>C (p.Ala2787Pro) c.6535G>C (p.Ala2179Pro) n.46G>C c.6538G>C (p.Ala2180Pro) n.4801G>C c.7759G>C (p.Ala2587Pro) c.7138G>C (p.Ala2380Pro) c.7858G>C (p.Ala2620Pro) c.8356G>C (p.Ala2786Pro) c.5953G>C (p.Ala1985Pro) | |
| 2 | g.237340557C>T | CA2187571 | COL6A3 | c.1004G>A c.7741G>A (p.Ala2581Thr) c.362G>A n.626G>A c.8359G>A (p.Ala2787Thr) c.6535G>A (p.Ala2179Thr) n.46G>A c.6538G>A (p.Ala2180Thr) n.4801G>A c.7759G>A (p.Ala2587Thr) c.7138G>A (p.Ala2380Thr) c.7858G>A (p.Ala2620Thr) c.8356G>A (p.Ala2786Thr) c.5953G>A (p.Ala1985Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237340558G>A | CA2187572 | COL6A3 | c.1003C>T c.7740C>T (p.Phe2580=) c.361C>T n.625C>T c.8358C>T (p.Phe2786=) c.6534C>T (p.Phe2178=) n.45C>T c.6537C>T (p.Phe2179=) n.4800C>T c.7758C>T (p.Phe2586=) c.7137C>T (p.Phe2379=) c.7857C>T (p.Phe2619=) c.8355C>T (p.Phe2785=) c.5952C>T (p.Phe1984=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.237340558G>C | CA351195039 | COL6A3 | c.1003C>G c.7740C>G (p.Phe2580Leu) c.361C>G n.625C>G c.8358C>G (p.Phe2786Leu) c.6534C>G (p.Phe2178Leu) n.45C>G c.6537C>G (p.Phe2179Leu) n.4800C>G c.7758C>G (p.Phe2586Leu) c.7137C>G (p.Phe2379Leu) c.7857C>G (p.Phe2619Leu) c.8355C>G (p.Phe2785Leu) c.5952C>G (p.Phe1984Leu) | |
| 2 | g.237340558G= | CA1337608613 | COL6A3 | c.1003C= c.7740C= (p.Phe2580=) c.361C= n.625C= c.8358C= (p.Phe2786=) c.6534C= (p.Phe2178=) n.45C= c.6537C= (p.Phe2179=) n.4800C= c.7758C= (p.Phe2586=) c.7137C= (p.Phe2379=) c.7857C= (p.Phe2619=) c.8355C= (p.Phe2785=) c.5952C= (p.Phe1984=) | |
| 2 | g.237340558G>T | CA351195042 | COL6A3 | c.1003C>A c.7740C>A (p.Phe2580Leu) c.361C>A n.625C>A c.8358C>A (p.Phe2786Leu) c.6534C>A (p.Phe2178Leu) n.45C>A c.6537C>A (p.Phe2179Leu) n.4800C>A c.7758C>A (p.Phe2586Leu) c.7137C>A (p.Phe2379Leu) c.7857C>A (p.Phe2619Leu) c.8355C>A (p.Phe2785Leu) c.5952C>A (p.Phe1984Leu) | COSMIC |
| 2 | g.237340559A>C | CA351195049 | COL6A3 | c.1002T>G c.7739T>G (p.Phe2580Cys) c.360T>G n.624T>G c.8357T>G (p.Phe2786Cys) c.6533T>G (p.Phe2178Cys) n.44T>G c.6536T>G (p.Phe2179Cys) n.4799T>G c.7757T>G (p.Phe2586Cys) c.7136T>G (p.Phe2379Cys) c.7856T>G (p.Phe2619Cys) c.8354T>G (p.Phe2785Cys) c.5951T>G (p.Phe1984Cys) | |
| 2 | g.237340559A>G | CA351195052 | COL6A3 | c.1002T>C c.7739T>C (p.Phe2580Ser) c.360T>C n.624T>C c.8357T>C (p.Phe2786Ser) c.6533T>C (p.Phe2178Ser) n.44T>C c.6536T>C (p.Phe2179Ser) n.4799T>C c.7757T>C (p.Phe2586Ser) c.7136T>C (p.Phe2379Ser) c.7856T>C (p.Phe2619Ser) c.8354T>C (p.Phe2785Ser) c.5951T>C (p.Phe1984Ser) | gnomAD v4 |
| 2 | g.237340559A>T | CA351195054 | COL6A3 | c.1002T>A c.7739T>A (p.Phe2580Tyr) c.360T>A n.624T>A c.8357T>A (p.Phe2786Tyr) c.6533T>A (p.Phe2178Tyr) n.44T>A c.6536T>A (p.Phe2179Tyr) n.4799T>A c.7757T>A (p.Phe2586Tyr) c.7136T>A (p.Phe2379Tyr) c.7856T>A (p.Phe2619Tyr) c.8354T>A (p.Phe2785Tyr) c.5951T>A (p.Phe1984Tyr) | |
| 2 | g.237340560A>C | CA351195058 | COL6A3 | c.1001T>G c.7738T>G (p.Phe2580Val) c.359T>G n.623T>G c.8356T>G (p.Phe2786Val) c.6532T>G (p.Phe2178Val) n.43T>G c.6535T>G (p.Phe2179Val) n.4798T>G c.7756T>G (p.Phe2586Val) c.7135T>G (p.Phe2379Val) c.7855T>G (p.Phe2619Val) c.8353T>G (p.Phe2785Val) c.5950T>G (p.Phe1984Val) | gnomAD v4 |
| 2 | g.237340560A>G | CA351195060 | COL6A3 | c.1001T>C c.7738T>C (p.Phe2580Leu) c.359T>C n.623T>C c.8356T>C (p.Phe2786Leu) c.6532T>C (p.Phe2178Leu) n.43T>C c.6535T>C (p.Phe2179Leu) n.4798T>C c.7756T>C (p.Phe2586Leu) c.7135T>C (p.Phe2379Leu) c.7855T>C (p.Phe2619Leu) c.8353T>C (p.Phe2785Leu) c.5950T>C (p.Phe1984Leu) | |
| 2 | g.237340560A>T | CA351195063 | COL6A3 | c.1001T>A c.7738T>A (p.Phe2580Ile) c.359T>A n.623T>A c.8356T>A (p.Phe2786Ile) c.6532T>A (p.Phe2178Ile) n.43T>A c.6535T>A (p.Phe2179Ile) n.4798T>A c.7756T>A (p.Phe2586Ile) c.7135T>A (p.Phe2379Ile) c.7855T>A (p.Phe2619Ile) c.8353T>A (p.Phe2785Ile) c.5950T>A (p.Phe1984Ile) | |
| 2 | g.237340561G>A | CA431701495 | COL6A3 | c.1000C>T c.7737C>T (p.Thr2579=) c.358C>T n.622C>T c.8355C>T (p.Thr2785=) c.6531C>T (p.Thr2177=) n.42C>T c.6534C>T (p.Thr2178=) n.4797C>T c.7755C>T (p.Thr2585=) c.7134C>T (p.Thr2378=) c.7854C>T (p.Thr2618=) c.8352C>T (p.Thr2784=) c.5949C>T (p.Thr1983=) | gnomAD v4 |
| 2 | g.237340561G>C | CA431701498 | COL6A3 | c.1000C>G c.7737C>G (p.Thr2579=) c.358C>G n.622C>G c.8355C>G (p.Thr2785=) c.6531C>G (p.Thr2177=) n.42C>G c.6534C>G (p.Thr2178=) n.4797C>G c.7755C>G (p.Thr2585=) c.7134C>G (p.Thr2378=) c.7854C>G (p.Thr2618=) c.8352C>G (p.Thr2784=) c.5949C>G (p.Thr1983=) | |
| 2 | g.237340561G>T | CA431701500 | COL6A3 | c.1000C>A c.7737C>A (p.Thr2579=) c.358C>A n.622C>A c.8355C>A (p.Thr2785=) c.6531C>A (p.Thr2177=) n.42C>A c.6534C>A (p.Thr2178=) n.4797C>A c.7755C>A (p.Thr2585=) c.7134C>A (p.Thr2378=) c.7854C>A (p.Thr2618=) c.8352C>A (p.Thr2784=) c.5949C>A (p.Thr1983=) | gnomAD v4 |
| 2 | g.237340562G>A | CA351195067 | COL6A3 | c.999C>T c.7736C>T (p.Thr2579Ile) c.357C>T n.621C>T c.8354C>T (p.Thr2785Ile) c.6530C>T (p.Thr2177Ile) n.41C>T c.6533C>T (p.Thr2178Ile) n.4796C>T c.7754C>T (p.Thr2585Ile) c.7133C>T (p.Thr2378Ile) c.7853C>T (p.Thr2618Ile) c.8351C>T (p.Thr2784Ile) c.5948C>T (p.Thr1983Ile) | |
| 2 | g.237340562G>C | CA351195068 | COL6A3 | c.999C>G c.7736C>G (p.Thr2579Ser) c.357C>G n.621C>G c.8354C>G (p.Thr2785Ser) c.6530C>G (p.Thr2177Ser) n.41C>G c.6533C>G (p.Thr2178Ser) n.4796C>G c.7754C>G (p.Thr2585Ser) c.7133C>G (p.Thr2378Ser) c.7853C>G (p.Thr2618Ser) c.8351C>G (p.Thr2784Ser) c.5948C>G (p.Thr1983Ser) | dbSNP gnomAD v2 |
| 2 | g.237340562G= | CA1337608619 | COL6A3 | c.999C= c.7736C= (p.Thr2579=) c.357C= n.621C= c.8354C= (p.Thr2785=) c.6530C= (p.Thr2177=) n.41C= c.6533C= (p.Thr2178=) n.4796C= c.7754C= (p.Thr2585=) c.7133C= (p.Thr2378=) c.7853C= (p.Thr2618=) c.8351C= (p.Thr2784=) c.5948C= (p.Thr1983=) | |
| 2 | g.237340562G>T | CA351195070 | COL6A3 | c.999C>A c.7736C>A (p.Thr2579Asn) c.357C>A n.621C>A c.8354C>A (p.Thr2785Asn) c.6530C>A (p.Thr2177Asn) n.41C>A c.6533C>A (p.Thr2178Asn) n.4796C>A c.7754C>A (p.Thr2585Asn) c.7133C>A (p.Thr2378Asn) c.7853C>A (p.Thr2618Asn) c.8351C>A (p.Thr2784Asn) c.5948C>A (p.Thr1983Asn) | |
| 2 | g.237340563T>A | CA351195072 | COL6A3 | c.998A>T c.7735A>T (p.Thr2579Ser) c.356A>T n.620A>T c.8353A>T (p.Thr2785Ser) c.6529A>T (p.Thr2177Ser) n.40A>T c.6532A>T (p.Thr2178Ser) n.4795A>T c.7753A>T (p.Thr2585Ser) c.7132A>T (p.Thr2378Ser) c.7852A>T (p.Thr2618Ser) c.8350A>T (p.Thr2784Ser) c.5947A>T (p.Thr1983Ser) | |
| 2 | g.237340563T>C | CA2187573 | COL6A3 | c.998A>G c.7735A>G (p.Thr2579Ala) c.356A>G n.620A>G c.8353A>G (p.Thr2785Ala) c.6529A>G (p.Thr2177Ala) n.40A>G c.6532A>G (p.Thr2178Ala) n.4795A>G c.7753A>G (p.Thr2585Ala) c.7132A>G (p.Thr2378Ala) c.7852A>G (p.Thr2618Ala) c.8350A>G (p.Thr2784Ala) c.5947A>G (p.Thr1983Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.237340563T>G | CA351195076 | COL6A3 | c.998A>C c.7735A>C (p.Thr2579Pro) c.356A>C n.620A>C c.8353A>C (p.Thr2785Pro) c.6529A>C (p.Thr2177Pro) n.40A>C c.6532A>C (p.Thr2178Pro) n.4795A>C c.7753A>C (p.Thr2585Pro) c.7132A>C (p.Thr2378Pro) c.7852A>C (p.Thr2618Pro) c.8350A>C (p.Thr2784Pro) c.5947A>C (p.Thr1983Pro) | |
| 2 | g.237340563T= | CA1337608623 | COL6A3 | c.998A= c.7735A= (p.Thr2579=) c.356A= n.620A= c.8353A= (p.Thr2785=) c.6529A= (p.Thr2177=) n.40A= c.6532A= (p.Thr2178=) n.4795A= c.7753A= (p.Thr2585=) c.7132A= (p.Thr2378=) c.7852A= (p.Thr2618=) c.8350A= (p.Thr2784=) c.5947A= (p.Thr1983=) | |
| 2 | g.237340564G>A | CA431701518 | COL6A3 | c.997C>T c.7734C>T (p.Tyr2578=) c.355C>T n.619C>T c.8352C>T (p.Tyr2784=) c.6528C>T (p.Tyr2176=) n.39C>T c.6531C>T (p.Tyr2177=) n.4794C>T c.7752C>T (p.Tyr2584=) c.7131C>T (p.Tyr2377=) c.7851C>T (p.Tyr2617=) c.8349C>T (p.Tyr2783=) c.5946C>T (p.Tyr1982=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.237340564G>C | CA351195080 | COL6A3 | c.997C>G c.7734C>G (p.Tyr2578Ter) c.355C>G n.619C>G c.8352C>G (p.Tyr2784Ter) c.6528C>G (p.Tyr2176Ter) n.39C>G c.6531C>G (p.Tyr2177Ter) n.4794C>G c.7752C>G (p.Tyr2584Ter) c.7131C>G (p.Tyr2377Ter) c.7851C>G (p.Tyr2617Ter) c.8349C>G (p.Tyr2783Ter) c.5946C>G (p.Tyr1982Ter) | |
| 2 | g.237340564G= | CA1337608626 | COL6A3 | c.997C= c.7734C= (p.Tyr2578=) c.355C= n.619C= c.8352C= (p.Tyr2784=) c.6528C= (p.Tyr2176=) n.39C= c.6531C= (p.Tyr2177=) n.4794C= c.7752C= (p.Tyr2584=) c.7131C= (p.Tyr2377=) c.7851C= (p.Tyr2617=) c.8349C= (p.Tyr2783=) c.5946C= (p.Tyr1982=) | |
| 2 | g.237340564G>T | CA351195078 | COL6A3 | c.997C>A c.7734C>A (p.Tyr2578Ter) c.355C>A n.619C>A c.8352C>A (p.Tyr2784Ter) c.6528C>A (p.Tyr2176Ter) n.39C>A c.6531C>A (p.Tyr2177Ter) n.4794C>A c.7752C>A (p.Tyr2584Ter) c.7131C>A (p.Tyr2377Ter) c.7851C>A (p.Tyr2617Ter) c.8349C>A (p.Tyr2783Ter) c.5946C>A (p.Tyr1982Ter) | |
| 2 | g.237340565T>A | CA351195082 | COL6A3 | c.996A>T c.7733A>T (p.Tyr2578Phe) c.354A>T n.618A>T c.8351A>T (p.Tyr2784Phe) c.6527A>T (p.Tyr2176Phe) n.38A>T c.6530A>T (p.Tyr2177Phe) n.4793A>T c.7751A>T (p.Tyr2584Phe) c.7130A>T (p.Tyr2377Phe) c.7850A>T (p.Tyr2617Phe) c.8348A>T (p.Tyr2783Phe) c.5945A>T (p.Tyr1982Phe) | ClinVar dbSNP |
| 2 | g.237340565T>C | CA351195084 | COL6A3 | c.996A>G c.7733A>G (p.Tyr2578Cys) c.354A>G n.618A>G c.8351A>G (p.Tyr2784Cys) c.6527A>G (p.Tyr2176Cys) n.38A>G c.6530A>G (p.Tyr2177Cys) n.4793A>G c.7751A>G (p.Tyr2584Cys) c.7130A>G (p.Tyr2377Cys) c.7850A>G (p.Tyr2617Cys) c.8348A>G (p.Tyr2783Cys) c.5945A>G (p.Tyr1982Cys) | |
| 2 | g.237340565T>G | CA351195086 | COL6A3 | c.996A>C c.7733A>C (p.Tyr2578Ser) c.354A>C n.618A>C c.8351A>C (p.Tyr2784Ser) c.6527A>C (p.Tyr2176Ser) n.38A>C c.6530A>C (p.Tyr2177Ser) n.4793A>C c.7751A>C (p.Tyr2584Ser) c.7130A>C (p.Tyr2377Ser) c.7850A>C (p.Tyr2617Ser) c.8348A>C (p.Tyr2783Ser) c.5945A>C (p.Tyr1982Ser) | |
| 2 | g.237340566A>C | CA351195088 | COL6A3 | c.995T>G c.7732T>G (p.Tyr2578Asp) c.353T>G n.617T>G c.8350T>G (p.Tyr2784Asp) c.6526T>G (p.Tyr2176Asp) n.37T>G c.6529T>G (p.Tyr2177Asp) n.4792T>G c.7750T>G (p.Tyr2584Asp) c.7129T>G (p.Tyr2377Asp) c.7849T>G (p.Tyr2617Asp) c.8347T>G (p.Tyr2783Asp) c.5944T>G (p.Tyr1982Asp) | |
| 2 | g.237340566A>G | CA351195090 | COL6A3 | c.995T>C c.7732T>C (p.Tyr2578His) c.353T>C n.617T>C c.8350T>C (p.Tyr2784His) c.6526T>C (p.Tyr2176His) n.37T>C c.6529T>C (p.Tyr2177His) n.4792T>C c.7750T>C (p.Tyr2584His) c.7129T>C (p.Tyr2377His) c.7849T>C (p.Tyr2617His) c.8347T>C (p.Tyr2783His) c.5944T>C (p.Tyr1982His) | |
| 2 | g.237340566A>T | CA351195092 | COL6A3 | c.995T>A c.7732T>A (p.Tyr2578Asn) c.353T>A n.617T>A c.8350T>A (p.Tyr2784Asn) c.6526T>A (p.Tyr2176Asn) n.37T>A c.6529T>A (p.Tyr2177Asn) n.4792T>A c.7750T>A (p.Tyr2584Asn) c.7129T>A (p.Tyr2377Asn) c.7849T>A (p.Tyr2617Asn) c.8347T>A (p.Tyr2783Asn) c.5944T>A (p.Tyr1982Asn) | |
| 2 | g.237340567T>A | CA431701550 | COL6A3 | c.994A>T c.7731A>T (p.Val2577=) c.352A>T n.616A>T c.8349A>T (p.Val2783=) c.6525A>T (p.Val2175=) n.36A>T c.6528A>T (p.Val2176=) n.4791A>T c.7749A>T (p.Val2583=) c.7128A>T (p.Val2376=) c.7848A>T (p.Val2616=) c.8346A>T (p.Val2782=) c.5943A>T (p.Val1981=) | |
| 2 | g.237340567T>C | CA431701554 | COL6A3 | c.994A>G c.7731A>G (p.Val2577=) c.352A>G n.616A>G c.8349A>G (p.Val2783=) c.6525A>G (p.Val2175=) n.36A>G c.6528A>G (p.Val2176=) n.4791A>G c.7749A>G (p.Val2583=) c.7128A>G (p.Val2376=) c.7848A>G (p.Val2616=) c.8346A>G (p.Val2782=) c.5943A>G (p.Val1981=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237340567T>G | CA431701558 | COL6A3 | c.994A>C c.7731A>C (p.Val2577=) c.352A>C n.616A>C c.8349A>C (p.Val2783=) c.6525A>C (p.Val2175=) n.36A>C c.6528A>C (p.Val2176=) n.4791A>C c.7749A>C (p.Val2583=) c.7128A>C (p.Val2376=) c.7848A>C (p.Val2616=) c.8346A>C (p.Val2782=) c.5943A>C (p.Val1981=) | |
| 2 | g.237340567T= | CA1337608629 | COL6A3 | c.994A= c.7731A= (p.Val2577=) c.352A= n.616A= c.8349A= (p.Val2783=) c.6525A= (p.Val2175=) n.36A= c.6528A= (p.Val2176=) n.4791A= c.7749A= (p.Val2583=) c.7128A= (p.Val2376=) c.7848A= (p.Val2616=) c.8346A= (p.Val2782=) c.5943A= (p.Val1981=) | |
| 2 | g.237340568A= | CA1337608632 | COL6A3 | c.993T= c.7730T= (p.Val2577=) c.351T= n.615T= c.8348T= (p.Val2783=) c.6524T= (p.Val2175=) n.35T= c.6527T= (p.Val2176=) n.4790T= c.7748T= (p.Val2583=) c.7127T= (p.Val2376=) c.7847T= (p.Val2616=) c.8345T= (p.Val2782=) c.5942T= (p.Val1981=) | |
| 2 | g.237340568A>C | CA351195098 | COL6A3 | c.993T>G c.7730T>G (p.Val2577Gly) c.351T>G n.615T>G c.8348T>G (p.Val2783Gly) c.6524T>G (p.Val2175Gly) n.35T>G c.6527T>G (p.Val2176Gly) n.4790T>G c.7748T>G (p.Val2583Gly) c.7127T>G (p.Val2376Gly) c.7847T>G (p.Val2616Gly) c.8345T>G (p.Val2782Gly) c.5942T>G (p.Val1981Gly) | dbSNP |
| 2 | g.237340568A>G | CA351195096 | COL6A3 | c.993T>C c.7730T>C (p.Val2577Ala) c.351T>C n.615T>C c.8348T>C (p.Val2783Ala) c.6524T>C (p.Val2175Ala) n.35T>C c.6527T>C (p.Val2176Ala) n.4790T>C c.7748T>C (p.Val2583Ala) c.7127T>C (p.Val2376Ala) c.7847T>C (p.Val2616Ala) c.8345T>C (p.Val2782Ala) c.5942T>C (p.Val1981Ala) | gnomAD v4 |
| 2 | g.237340568A>T | CA351195094 | COL6A3 | c.993T>A c.7730T>A (p.Val2577Glu) c.351T>A n.615T>A c.8348T>A (p.Val2783Glu) c.6524T>A (p.Val2175Glu) n.35T>A c.6527T>A (p.Val2176Glu) n.4790T>A c.7748T>A (p.Val2583Glu) c.7127T>A (p.Val2376Glu) c.7847T>A (p.Val2616Glu) c.8345T>A (p.Val2782Glu) c.5942T>A (p.Val1981Glu) | |
| 2 | g.237340569C>A | CA351195100 | COL6A3 | c.992G>T c.7729G>T (p.Val2577Leu) c.350G>T n.614G>T c.8347G>T (p.Val2783Leu) c.6523G>T (p.Val2175Leu) n.34G>T c.6526G>T (p.Val2176Leu) n.4789G>T c.7747G>T (p.Val2583Leu) c.7126G>T (p.Val2376Leu) c.7846G>T (p.Val2616Leu) c.8344G>T (p.Val2782Leu) c.5941G>T (p.Val1981Leu) | gnomAD v4 |
| 2 | g.237340569C>G | CA351195102 | COL6A3 | c.992G>C c.7729G>C (p.Val2577Leu) c.350G>C n.614G>C c.8347G>C (p.Val2783Leu) c.6523G>C (p.Val2175Leu) n.34G>C c.6526G>C (p.Val2176Leu) n.4789G>C c.7747G>C (p.Val2583Leu) c.7126G>C (p.Val2376Leu) c.7846G>C (p.Val2616Leu) c.8344G>C (p.Val2782Leu) c.5941G>C (p.Val1981Leu) | |
| 2 | g.237340569C>T | CA351195104 | COL6A3 | c.992G>A c.7729G>A (p.Val2577Ile) c.350G>A n.614G>A c.8347G>A (p.Val2783Ile) c.6523G>A (p.Val2175Ile) n.34G>A c.6526G>A (p.Val2176Ile) n.4789G>A c.7747G>A (p.Val2583Ile) c.7126G>A (p.Val2376Ile) c.7846G>A (p.Val2616Ile) c.8344G>A (p.Val2782Ile) c.5941G>A (p.Val1981Ile) | gnomAD v4 |
| 2 | g.237340570C>A | CA351195106 | COL6A3 | c.991G>T c.7728G>T (p.Glu2576Asp) c.349G>T n.613G>T c.8346G>T (p.Glu2782Asp) c.6522G>T (p.Glu2174Asp) n.33G>T c.6525G>T (p.Glu2175Asp) n.4788G>T c.7746G>T (p.Glu2582Asp) c.7125G>T (p.Glu2375Asp) c.7845G>T (p.Glu2615Asp) c.8343G>T (p.Glu2781Asp) c.5940G>T (p.Glu1980Asp) | |
| 2 | g.237340570C= | CA1337608635 | COL6A3 | c.991G= c.7728G= (p.Glu2576=) c.349G= n.613G= c.8346G= (p.Glu2782=) c.6522G= (p.Glu2174=) n.33G= c.6525G= (p.Glu2175=) n.4788G= c.7746G= (p.Glu2582=) c.7125G= (p.Glu2375=) c.7845G= (p.Glu2615=) c.8343G= (p.Glu2781=) c.5940G= (p.Glu1980=) | |
| 2 | g.237340570C>G | CA351195107 | COL6A3 | c.991G>C c.7728G>C (p.Glu2576Asp) c.349G>C n.613G>C c.8346G>C (p.Glu2782Asp) c.6522G>C (p.Glu2174Asp) n.33G>C c.6525G>C (p.Glu2175Asp) n.4788G>C c.7746G>C (p.Glu2582Asp) c.7125G>C (p.Glu2375Asp) c.7845G>C (p.Glu2615Asp) c.8343G>C (p.Glu2781Asp) c.5940G>C (p.Glu1980Asp) | |
| 2 | g.237340570C>T | CA202668 | COL6A3 | c.991G>A c.7728G>A (p.Glu2576=) c.349G>A n.613G>A c.8346G>A (p.Glu2782=) c.6522G>A (p.Glu2174=) n.33G>A c.6525G>A (p.Glu2175=) n.4788G>A c.7746G>A (p.Glu2582=) c.7125G>A (p.Glu2375=) c.7845G>A (p.Glu2615=) c.8343G>A (p.Glu2781=) c.5940G>A (p.Glu1980=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |