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 |
|---|---|---|---|---|---|
| 8 | g.54626258_54626316del | CA2780387017 | RP1 | c.2376_2434del (p.Arg793TyrfsTer3) c.787+3970_787+4028del (n.787+3970_787+4028del) c.2397_2455del (p.Arg800TyrfsTer3) | |
| 8 | g.54626309T>A | CA370993804 | RP1 | c.2427T>A (p.Tyr809Ter) c.787+4021T>A (n.787+4021T>A) c.2448T>A (p.Tyr816Ter) | |
| 8 | g.54626309T>C | CA4751530 | RP1 | c.2427T>C (p.Tyr809=) c.787+4021T>C (n.787+4021T>C) c.2448T>C (p.Tyr816=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626309T>G | CA370993806 | RP1 | c.2427T>G (p.Tyr809Ter) c.787+4021T>G (n.787+4021T>G) c.2448T>G (p.Tyr816Ter) | |
| 8 | g.54626309T= | CA1785188257 | RP1 | c.2427T= (p.Tyr809=) c.787+4021T= (n.787+4021T=) c.2448T= (p.Tyr816=) | |
| 8 | g.54626310T>A | CA370993807 | RP1 | c.2428T>A (p.Cys810Ser) c.787+4022T>A (n.787+4022T>A) c.2449T>A (p.Cys817Ser) | |
| 8 | g.54626310T>C | CA370993809 | RP1 | c.2428T>C (p.Cys810Arg) c.787+4022T>C (n.787+4022T>C) c.2449T>C (p.Cys817Arg) | |
| 8 | g.54626310T>G | CA370993811 | RP1 | c.2428T>G (p.Cys810Gly) c.787+4022T>G (n.787+4022T>G) c.2449T>G (p.Cys817Gly) | |
| 8 | g.54626310T= | CA1785188258 | RP1 | c.2428T= (p.Cys810=) c.787+4022T= (n.787+4022T=) c.2449T= (p.Cys817=) | |
| 8 | g.54626311G>A | CA370993815 | RP1 | c.2429G>A (p.Cys810Tyr) c.787+4023G>A (n.787+4023G>A) c.2450G>A (p.Cys817Tyr) | dbSNP gnomAD v4 |
| 8 | g.54626311G>C | CA370993812 | RP1 | c.2429G>C (p.Cys810Ser) c.787+4023G>C (n.787+4023G>C) c.2450G>C (p.Cys817Ser) | |
| 8 | g.54626311G= | CA1785188259 | RP1 | c.2429G= (p.Cys810=) c.787+4023G= (n.787+4023G=) c.2450G= (p.Cys817=) | |
| 8 | g.54626311G>T | CA370993814 | RP1 | c.2429G>T (p.Cys810Phe) c.787+4023G>T (n.787+4023G>T) c.2450G>T (p.Cys817Phe) | |
| 8 | g.54626311_54626328dup | CA1785188260 | RP1 | c.2429_2446dup (p.Glu815_Asn816insSerLysSerThrPheGlu) c.787+4023_787+4040dup (n.787+4023_787+4040dup) c.2450_2467dup (p.Glu822_Asn823insSerLysSerThrPheGlu) | dbSNP |
| 8 | g.54626312C>A | CA370993818 | RP1 | c.2430C>A (p.Cys810Ter) c.787+4024C>A (n.787+4024C>A) c.2451C>A (p.Cys817Ter) | ClinVar dbSNP |
| 8 | g.54626312C= | CA1785188261 | RP1 | c.2430C= (p.Cys810=) c.787+4024C= (n.787+4024C=) c.2451C= (p.Cys817=) | |
| 8 | g.54626312C>G | CA370993819 | RP1 | c.2430C>G (p.Cys810Trp) c.787+4024C>G (n.787+4024C>G) c.2451C>G (p.Cys817Trp) | |
| 8 | g.54626312C>T | CA461098792 | RP1 | c.2430C>T (p.Cys810=) c.787+4024C>T (n.787+4024C>T) c.2451C>T (p.Cys817=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54626313A= | CA1785188262 | RP1 | c.2431A= (p.Lys811=) c.787+4025A= (n.787+4025A=) c.2452A= (p.Lys818=) | |
| 8 | g.54626313A>C | CA370993821 | RP1 | c.2431A>C (p.Lys811Gln) c.787+4025A>C (n.787+4025A>C) c.2452A>C (p.Lys818Gln) | |
| 8 | g.54626313A>G | CA4751531 | RP1 | c.2431A>G (p.Lys811Glu) c.787+4025A>G (n.787+4025A>G) c.2452A>G (p.Lys818Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626313A>T | CA370993823 | RP1 | c.2431A>T (p.Lys811Ter) c.787+4025A>T (n.787+4025A>T) c.2452A>T (p.Lys818Ter) | |
| 8 | g.54626316del | CA2695209286 | RP1 | c.2434del (p.Ser812ValfsTer?) c.787+4028del (n.787+4028del) c.2455del (p.Ser819ValfsTer?) | |
| 8 | g.54626314A= | CA1785188263 | RP1 | c.2432A= (p.Lys811=) c.787+4026A= (n.787+4026A=) c.2453A= (p.Lys818=) | |
| 8 | g.54626314A>C | CA370993827 | RP1 | c.2432A>C (p.Lys811Thr) c.787+4026A>C (n.787+4026A>C) c.2453A>C (p.Lys818Thr) | gnomAD v4 |
| 8 | g.54626314A>G | CA177237167 | RP1 | c.2432A>G (p.Lys811Arg) c.787+4026A>G (n.787+4026A>G) c.2453A>G (p.Lys818Arg) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54626314A>T | CA370993826 | RP1 | c.2432A>T (p.Lys811Ile) c.787+4026A>T (n.787+4026A>T) c.2453A>T (p.Lys818Ile) | gnomAD v4 |
| 8 | g.54626315A>C | CA370993830 | RP1 | c.2433A>C (p.Lys811Asn) c.787+4027A>C (n.787+4027A>C) c.2454A>C (p.Lys818Asn) | |
| 8 | g.54626315A>G | CA461098794 | RP1 | c.2433A>G (p.Lys811=) c.787+4027A>G (n.787+4027A>G) c.2454A>G (p.Lys818=) | |
| 8 | g.54626315A>T | CA370993831 | RP1 | c.2433A>T (p.Lys811Asn) c.787+4027A>T (n.787+4027A>T) c.2454A>T (p.Lys818Asn) | |
| 8 | g.54626316A>C | CA370993833 | RP1 | c.2434A>C (p.Ser812Arg) c.787+4028A>C (n.787+4028A>C) c.2455A>C (p.Ser819Arg) | |
| 8 | g.54626316A>G | CA370993834 | RP1 | c.2434A>G (p.Ser812Gly) c.787+4028A>G (n.787+4028A>G) c.2455A>G (p.Ser819Gly) | |
| 8 | g.54626316A>T | CA370993835 | RP1 | c.2434A>T (p.Ser812Cys) c.787+4028A>T (n.787+4028A>T) c.2455A>T (p.Ser819Cys) | |
| 8 | g.54626317G>A | CA370993836 | RP1 | c.2435G>A (p.Ser812Asn) c.787+4029G>A (n.787+4029G>A) c.2456G>A (p.Ser819Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54626317G>C | CA370993837 | RP1 | c.2435G>C (p.Ser812Thr) c.787+4029G>C (n.787+4029G>C) c.2456G>C (p.Ser819Thr) | |
| 8 | g.54626317G= | CA1785188264 | RP1 | c.2435G= (p.Ser812=) c.787+4029G= (n.787+4029G=) c.2456G= (p.Ser819=) | |
| 8 | g.54626317G>T | CA370993838 | RP1 | c.2435G>T (p.Ser812Ile) c.787+4029G>T (n.787+4029G>T) c.2456G>T (p.Ser819Ile) | |
| 8 | g.54626318T>A | CA370993839 | RP1 | c.2436T>A (p.Ser812Arg) c.787+4030T>A (n.787+4030T>A) c.2457T>A (p.Ser819Arg) | |
| 8 | g.54626318T>C | CA461098798 | RP1 | c.2436T>C (p.Ser812=) c.787+4030T>C (n.787+4030T>C) c.2457T>C (p.Ser819=) | gnomAD v4 |
| 8 | g.54626318T>G | CA370993840 | RP1 | c.2436T>G (p.Ser812Arg) c.787+4030T>G (n.787+4030T>G) c.2457T>G (p.Ser819Arg) | |
| 8 | g.54626319A= | CA1785188265 | RP1 | c.2437A= (p.Thr813=) c.787+4031A= (n.787+4031A=) c.2458A= (p.Thr820=) | |
| 8 | g.54626319A>C | CA370993841 | RP1 | c.2437A>C (p.Thr813Pro) c.787+4031A>C (n.787+4031A>C) c.2458A>C (p.Thr820Pro) | |
| 8 | g.54626319A>G | CA370993842 | RP1 | c.2437A>G (p.Thr813Ala) c.787+4031A>G (n.787+4031A>G) c.2458A>G (p.Thr820Ala) | gnomAD v4 |
| 8 | g.54626319A>T | CA370993843 | RP1 | c.2437A>T (p.Thr813Ser) c.787+4031A>T (n.787+4031A>T) c.2458A>T (p.Thr820Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54626320C>A | CA370993844 | RP1 | c.2438C>A (p.Thr813Asn) c.787+4032C>A (n.787+4032C>A) c.2459C>A (p.Thr820Asn) | |
| 8 | g.54626320C= | CA1785188266 | RP1 | c.2438C= (p.Thr813=) c.787+4032C= (n.787+4032C=) c.2459C= (p.Thr820=) | |
| 8 | g.54626320C>G | CA370993845 | RP1 | c.2438C>G (p.Thr813Ser) c.787+4032C>G (n.787+4032C>G) c.2459C>G (p.Thr820Ser) | dbSNP |
| 8 | g.54626320C>T | CA4751532 | RP1 | c.2438C>T (p.Thr813Ile) c.787+4032C>T (n.787+4032C>T) c.2459C>T (p.Thr820Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54626321T>A | CA461098803 | RP1 | c.2439T>A (p.Thr813=) c.787+4033T>A (n.787+4033T>A) c.2460T>A (p.Thr820=) | |
| 8 | g.54626321T>C | CA461098804 | RP1 | c.2439T>C (p.Thr813=) c.787+4033T>C (n.787+4033T>C) c.2460T>C (p.Thr820=) |