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 |
|---|---|---|---|---|---|
| 3 | g.48570639C>A | CA433534056 | COL7A1 | c.7344G>T (p.Val2448=) c.339G>T (p.Val113=) n.94G>T n.3983G>T c.7371G>T (p.Val2457=) c.7345G>T (p.Gly2449Trp) n.7407G>T n.7381G>T c.7318G>T (p.Gly2440Trp) n.7380G>T n.7354G>T | gnomAD v4 |
| 3 | g.48570639C= | CA1363080151 | COL7A1 | c.7344G= (p.Val2448=) c.339G= (p.Val113=) n.94G= n.3983G= c.7371G= (p.Val2457=) c.7345G= (p.Gly2449=) n.7407G= n.7381G= c.7318G= (p.Gly2440=) n.7380G= n.7354G= | |
| 3 | g.48570639C>G | CA433534055 | COL7A1 | c.7344G>C (p.Val2448=) c.339G>C (p.Val113=) n.94G>C n.3983G>C c.7371G>C (p.Val2457=) c.7345G>C (p.Gly2449Arg) n.7407G>C n.7381G>C c.7318G>C (p.Gly2440Arg) n.7380G>C n.7354G>C | |
| 3 | g.48570639C>T | CA2378563 | COL7A1 | c.7344G>A (p.Val2448=) c.339G>A (p.Val113=) n.94G>A n.3983G>A c.7371G>A (p.Val2457=) c.7345G>A (p.Gly2449Arg) n.7407G>A n.7381G>A c.7318G>A (p.Gly2440Arg) n.7380G>A n.7354G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48570640A>C | CA352647448 | COL7A1 | c.7343T>G (p.Val2448Gly) c.338T>G (p.Val113Gly) n.93T>G n.3982T>G c.7370T>G (p.Val2457Gly) c.7344T>G (p.Ser2448Arg) n.7406T>G n.7380T>G c.7317T>G (p.Ser2439Arg) n.7379T>G n.7353T>G | |
| 3 | g.48570640A>G | CA352647455 | COL7A1 | c.7343T>C (p.Val2448Ala) c.338T>C (p.Val113Ala) n.93T>C n.3982T>C c.7370T>C (p.Val2457Ala) c.7344T>C (p.Ser2448=) n.7406T>C n.7380T>C c.7317T>C (p.Ser2439=) n.7379T>C n.7353T>C | gnomAD v4 |
| 3 | g.48570640A>T | CA352647453 | COL7A1 | c.7343T>A (p.Val2448Glu) c.338T>A (p.Val113Glu) n.93T>A n.3982T>A c.7370T>A (p.Val2457Glu) c.7344T>A (p.Ser2448Arg) n.7406T>A n.7380T>A c.7317T>A (p.Ser2439Arg) n.7379T>A n.7353T>A | |
| 3 | g.48570641C>A | CA352647457 | COL7A1 | c.7342G>T (p.Val2448Leu) c.337G>T (p.Val113Leu) n.92G>T n.3981G>T c.7369G>T (p.Val2457Leu) c.7343G>T (p.Ser2448Ile) n.7405G>T n.7379G>T c.7316G>T (p.Ser2439Ile) n.7378G>T n.7352G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48570641C= | CA1363080155 | COL7A1 | c.7342G= (p.Val2448=) c.337G= (p.Val113=) n.92G= n.3981G= c.7369G= (p.Val2457=) c.7343G= (p.Ser2448=) n.7405G= n.7379G= c.7316G= (p.Ser2439=) n.7378G= n.7352G= | |
| 3 | g.48570641C>G | CA352647458 | COL7A1 | c.7342G>C (p.Val2448Leu) c.337G>C (p.Val113Leu) n.92G>C n.3981G>C c.7369G>C (p.Val2457Leu) c.7343G>C (p.Ser2448Thr) n.7405G>C n.7379G>C c.7316G>C (p.Ser2439Thr) n.7378G>C n.7352G>C | |
| 3 | g.48570641C>T | CA352647462 | COL7A1 | c.7342G>A (p.Val2448Met) c.337G>A (p.Val113Met) n.92G>A n.3981G>A c.7369G>A (p.Val2457Met) c.7343G>A (p.Ser2448Asn) n.7405G>A n.7379G>A c.7316G>A (p.Ser2439Asn) n.7378G>A n.7352G>A | gnomAD v4 |
| 3 | g.48570642T>A | CA433534058 | COL7A1 | c.7341A>T (p.Ser2447=) c.336A>T (p.Ser112=) n.91A>T n.3980A>T c.7368A>T (p.Ser2456=) c.7342A>T (p.Ser2448Cys) n.7404A>T n.7378A>T c.7315A>T (p.Ser2439Cys) n.7377A>T n.7351A>T | |
| 3 | g.48570642T>C | CA433534059 | COL7A1 | c.7341A>G (p.Ser2447=) c.336A>G (p.Ser112=) n.91A>G n.3980A>G c.7368A>G (p.Ser2456=) c.7342A>G (p.Ser2448Gly) n.7404A>G n.7378A>G c.7315A>G (p.Ser2439Gly) n.7377A>G n.7351A>G | |
| 3 | g.48570642T>G | CA433534062 | COL7A1 | c.7341A>C (p.Ser2447=) c.336A>C (p.Ser112=) n.91A>C n.3980A>C c.7368A>C (p.Ser2456=) c.7342A>C (p.Ser2448Arg) n.7404A>C n.7378A>C c.7315A>C (p.Ser2439Arg) n.7377A>C n.7351A>C | |
| 3 | g.48570643G>A | CA352647472 | COL7A1 | c.7340C>T (p.Ser2447Leu) c.335C>T (p.Ser112Leu) n.90C>T n.3979C>T c.7367C>T (p.Ser2456Leu) c.7341C>T (p.Val2447=) n.7403C>T n.7377C>T c.7314C>T (p.Val2438=) n.7376C>T n.7350C>T | gnomAD v4 |
| 3 | g.48570643G>C | CA352647480 | COL7A1 | c.7340C>G (p.Ser2447Ter) c.335C>G (p.Ser112Ter) n.90C>G n.3979C>G c.7367C>G (p.Ser2456Ter) c.7341C>G (p.Val2447=) n.7403C>G n.7377C>G c.7314C>G (p.Val2438=) n.7376C>G n.7350C>G | |
| 3 | g.48570643G>T | CA352647485 | COL7A1 | c.7340C>A (p.Ser2447Ter) c.335C>A (p.Ser112Ter) n.90C>A n.3979C>A c.7367C>A (p.Ser2456Ter) c.7341C>A (p.Val2447=) n.7403C>A n.7377C>A c.7314C>A (p.Val2438=) n.7376C>A n.7350C>A | |
| 3 | g.48570644A>C | CA352647488 | COL7A1 | c.7339T>G (p.Ser2447Ala) c.334T>G (p.Ser112Ala) n.89T>G n.3978T>G c.7366T>G (p.Ser2456Ala) c.7340T>G (p.Val2447Gly) n.7402T>G n.7376T>G c.7313T>G (p.Val2438Gly) n.7375T>G n.7349T>G | |
| 3 | g.48570644A>G | CA352647490 | COL7A1 | c.7339T>C (p.Ser2447Pro) c.334T>C (p.Ser112Pro) n.89T>C n.3978T>C c.7366T>C (p.Ser2456Pro) c.7340T>C (p.Val2447Ala) n.7402T>C n.7376T>C c.7313T>C (p.Val2438Ala) n.7375T>C n.7349T>C | |
| 3 | g.48570644A>T | CA352647491 | COL7A1 | c.7339T>A (p.Ser2447Thr) c.334T>A (p.Ser112Thr) n.89T>A n.3978T>A c.7366T>A (p.Ser2456Thr) c.7340T>A (p.Val2447Asp) n.7402T>A n.7376T>A c.7313T>A (p.Val2438Asp) n.7375T>A n.7349T>A | |
| 3 | g.48570645C>A | CA2378564 | COL7A1 | c.7338G>T (p.Gly2446=) c.333G>T (p.Gly111=) n.88G>T n.3977G>T c.7365G>T (p.Gly2455=) c.7339G>T (p.Val2447Phe) n.7401G>T n.7375G>T c.7312G>T (p.Val2438Phe) n.7374G>T n.7348G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48570645C= | CA1363080158 | COL7A1 | c.7338G= (p.Gly2446=) c.333G= (p.Gly111=) n.88G= n.3977G= c.7365G= (p.Gly2455=) c.7339G= (p.Val2447=) n.7401G= n.7375G= c.7312G= (p.Val2438=) n.7374G= n.7348G= | |
| 3 | g.48570645C>G | CA433534066 | COL7A1 | c.7338G>C (p.Gly2446=) c.333G>C (p.Gly111=) n.88G>C n.3977G>C c.7365G>C (p.Gly2455=) c.7339G>C (p.Val2447Leu) n.7401G>C n.7375G>C c.7312G>C (p.Val2438Leu) n.7374G>C n.7348G>C | |
| 3 | g.48570645C>T | CA433534064 | COL7A1 | c.7338G>A (p.Gly2446=) c.333G>A (p.Gly111=) n.88G>A n.3977G>A c.7365G>A (p.Gly2455=) c.7339G>A (p.Val2447Ile) n.7401G>A n.7375G>A c.7312G>A (p.Val2438Ile) n.7374G>A n.7348G>A | |
| 3 | g.48570646C>A | CA352647500 | COL7A1 | c.7337G>T (p.Gly2446Val) c.332G>T (p.Gly111Val) n.87G>T n.3976G>T c.7364G>T (p.Gly2455Val) c.7338G>T (p.Gly2446=) n.7400G>T n.7374G>T c.7311G>T (p.Gly2437=) n.7373G>T n.7347G>T | |
| 3 | g.48570646C= | CA1363080161 | COL7A1 | c.7337G= (p.Gly2446=) c.332G= (p.Gly111=) n.87G= n.3976G= c.7364G= (p.Gly2455=) c.7338G= (p.Gly2446=) n.7400G= n.7374G= c.7311G= (p.Gly2437=) n.7373G= n.7347G= | |
| 3 | g.48570646C>G | CA352647498 | COL7A1 | c.7337G>C (p.Gly2446Ala) c.332G>C (p.Gly111Ala) n.87G>C n.3976G>C c.7364G>C (p.Gly2455Ala) c.7338G>C (p.Gly2446=) n.7400G>C n.7374G>C c.7311G>C (p.Gly2437=) n.7373G>C n.7347G>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.48570646C>T | CA2378565 | COL7A1 | c.7337G>A (p.Gly2446Glu) c.332G>A (p.Gly111Glu) n.87G>A n.3976G>A c.7364G>A (p.Gly2455Glu) c.7338G>A (p.Gly2446=) n.7400G>A n.7374G>A c.7311G>A (p.Gly2437=) n.7373G>A n.7347G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.48570647C>A | CA352647505 | COL7A1 | c.7336G>T (p.Gly2446Trp) c.331G>T (p.Gly111Trp) n.86G>T n.3975G>T c.7363G>T (p.Gly2455Trp) c.7337G>T (p.Gly2446Val) n.7399G>T n.7373G>T c.7310G>T (p.Gly2437Val) n.7372G>T n.7346G>T | gnomAD v4 |
| 3 | g.48570647C= | CA1363080164 | COL7A1 | c.7336G= (p.Gly2446=) c.331G= (p.Gly111=) n.86G= n.3975G= c.7363G= (p.Gly2455=) c.7337G= (p.Gly2446=) n.7399G= n.7373G= c.7310G= (p.Gly2437=) n.7372G= n.7346G= | |
| 3 | g.48570647C>G | CA352647522 | COL7A1 | c.7336G>C (p.Gly2446Arg) c.331G>C (p.Gly111Arg) n.86G>C n.3975G>C c.7363G>C (p.Gly2455Arg) c.7337G>C (p.Gly2446Ala) n.7399G>C n.7373G>C c.7310G>C (p.Gly2437Ala) n.7372G>C n.7346G>C | |
| 3 | g.48570647C>T | CA352647520 | COL7A1 | c.7336G>A (p.Gly2446Arg) c.331G>A (p.Gly111Arg) n.86G>A n.3975G>A c.7363G>A (p.Gly2455Arg) c.7337G>A (p.Gly2446Glu) n.7399G>A n.7373G>A c.7310G>A (p.Gly2437Glu) n.7372G>A n.7346G>A | ClinVar dbSNP gnomAD v2 |
| 3 | g.48570648C>A | CA433534067 | COL7A1 | c.7335G>T (p.Pro2445=) c.330G>T (p.Pro110=) n.85G>T n.3974G>T c.7362G>T (p.Pro2454=) c.7336G>T (p.Gly2446Trp) n.7398G>T n.7372G>T c.7309G>T (p.Gly2437Trp) n.7371G>T n.7345G>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.48570648C= | CA1363080168 | COL7A1 | c.7335G= (p.Pro2445=) c.330G= (p.Pro110=) n.85G= n.3974G= c.7362G= (p.Pro2454=) c.7336G= (p.Gly2446=) n.7398G= n.7372G= c.7309G= (p.Gly2437=) n.7371G= n.7345G= | |
| 3 | g.48570648C>G | CA433534068 | COL7A1 | c.7335G>C (p.Pro2445=) c.330G>C (p.Pro110=) n.85G>C n.3974G>C c.7362G>C (p.Pro2454=) c.7336G>C (p.Gly2446Arg) n.7398G>C n.7372G>C c.7309G>C (p.Gly2437Arg) n.7371G>C n.7345G>C | ClinVar |
| 3 | g.48570648C>T | CA2378566 | COL7A1 | c.7335G>A (p.Pro2445=) c.330G>A (p.Pro110=) n.85G>A n.3974G>A c.7362G>A (p.Pro2454=) c.7336G>A (p.Gly2446Arg) n.7398G>A n.7372G>A c.7309G>A (p.Gly2437Arg) n.7371G>A n.7345G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48570649G>A | CA2378567 | COL7A1 | c.7334C>T (p.Pro2445Leu) c.329C>T (p.Pro110Leu) n.84C>T n.3973C>T c.7361C>T (p.Pro2454Leu) c.7335C>T (p.Thr2445=) n.7397C>T n.7371C>T c.7308C>T (p.Thr2436=) n.7370C>T n.7344C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48570649G>C | CA352647530 | COL7A1 | c.7334C>G (p.Pro2445Arg) c.329C>G (p.Pro110Arg) n.84C>G n.3973C>G c.7361C>G (p.Pro2454Arg) c.7335C>G (p.Thr2445=) n.7397C>G n.7371C>G c.7308C>G (p.Thr2436=) n.7370C>G n.7344C>G | |
| 3 | g.48570649G= | CA1363080170 | COL7A1 | c.7334C= (p.Pro2445=) c.329C= (p.Pro110=) n.84C= n.3973C= c.7361C= (p.Pro2454=) c.7335C= (p.Thr2445=) n.7397C= n.7371C= c.7308C= (p.Thr2436=) n.7370C= n.7344C= | |
| 3 | g.48570649G>T | CA352647553 | COL7A1 | c.7334C>A (p.Pro2445Gln) c.329C>A (p.Pro110Gln) n.84C>A n.3973C>A c.7361C>A (p.Pro2454Gln) c.7335C>A (p.Thr2445=) n.7397C>A n.7371C>A c.7308C>A (p.Thr2436=) n.7370C>A n.7344C>A | gnomAD v4 |
| 3 | g.48570650G>A | CA352647565 | COL7A1 | c.7333C>T (p.Pro2445Ser) c.328C>T (p.Pro110Ser) n.83C>T n.3972C>T c.7360C>T (p.Pro2454Ser) c.7334C>T (p.Thr2445Ile) n.7396C>T n.7370C>T c.7307C>T (p.Thr2436Ile) n.7369C>T n.7343C>T | |
| 3 | g.48570650G>C | CA352647569 | COL7A1 | c.7333C>G (p.Pro2445Ala) c.328C>G (p.Pro110Ala) n.83C>G n.3972C>G c.7360C>G (p.Pro2454Ala) c.7334C>G (p.Thr2445Ser) n.7396C>G n.7370C>G c.7307C>G (p.Thr2436Ser) n.7369C>G n.7343C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48570650G= | CA1363080174 | COL7A1 | c.7333C= (p.Pro2445=) c.328C= (p.Pro110=) n.83C= n.3972C= c.7360C= (p.Pro2454=) c.7334C= (p.Thr2445=) n.7396C= n.7370C= c.7307C= (p.Thr2436=) n.7369C= n.7343C= | |
| 3 | g.48570650G>T | CA352647577 | COL7A1 | c.7333C>A (p.Pro2445Thr) c.328C>A (p.Pro110Thr) n.83C>A n.3972C>A c.7360C>A (p.Pro2454Thr) c.7334C>A (p.Thr2445Asn) n.7396C>A n.7370C>A c.7307C>A (p.Thr2436Asn) n.7369C>A n.7343C>A | |
| 3 | g.48570651T>A | CA433534072 | COL7A1 | c.7332A>T (p.Pro2444=) c.327A>T (p.Pro109=) n.82A>T n.3971A>T c.7359A>T (p.Pro2453=) c.7333A>T (p.Thr2445Ser) n.7395A>T n.7369A>T c.7306A>T (p.Thr2436Ser) n.7368A>T n.7342A>T | dbSNP |
| 3 | g.48570651T>C | CA433534076 | COL7A1 | c.7332A>G (p.Pro2444=) c.327A>G (p.Pro109=) n.82A>G n.3971A>G c.7359A>G (p.Pro2453=) c.7333A>G (p.Thr2445Ala) n.7395A>G n.7369A>G c.7306A>G (p.Thr2436Ala) n.7368A>G n.7342A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.48570651T>G | CA433534074 | COL7A1 | c.7332A>C (p.Pro2444=) c.327A>C (p.Pro109=) n.82A>C n.3971A>C c.7359A>C (p.Pro2453=) c.7333A>C (p.Thr2445Pro) n.7395A>C n.7369A>C c.7306A>C (p.Thr2436Pro) n.7368A>C n.7342A>C | |
| 3 | g.48570651T= | CA1363080178 | COL7A1 | c.7332A= (p.Pro2444=) c.327A= (p.Pro109=) n.82A= n.3971A= c.7359A= (p.Pro2453=) c.7333A= (p.Thr2445=) n.7395A= n.7369A= c.7306A= (p.Thr2436=) n.7368A= n.7342A= | |
| 3 | g.48570651dup | CA1363080176 | COL7A1 | c.7332dup (p.Pro2445ThrfsTer?) c.327dup (p.Pro110ThrfsTer?) n.82dup n.3971dup c.7359dup (p.Pro2454ThrfsTer?) c.7359dup (p.Pro2454ThrfsTer18) c.7333dup (p.Thr2445AsnfsTer?) n.7395dup n.7369dup c.7332dup (p.Pro2445ThrfsTer18) c.7306dup (p.Thr2436AsnfsTer?) n.7368dup n.7342dup | dbSNP |
| 3 | g.48570652G>A | CA73974415 | COL7A1 | c.7331C>T (p.Pro2444Leu) c.326C>T (p.Pro109Leu) n.81C>T n.3970C>T c.7358C>T (p.Pro2453Leu) c.7332C>T (p.Thr2444=) n.7394C>T n.7368C>T c.7305C>T (p.Thr2435=) n.7367C>T n.7341C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |