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 |
|---|---|---|---|---|---|
| 1 | g.197429460T>A | CA203679 | CRB1 | c.2688T>A (p.Cys896Ter) c.1569T>A (p.Cys523Ter) c.831T>A (p.Cys277Ter) c.2352T>A (p.Cys784Ter) c.2616T>A (p.Cys872Ter) c.2129-6140T>A (n.2129-6140T>A) n.2689T>A n.2897T>A c.2106T>A (p.Cys702Ter) c.1131T>A (p.Cys377Ter) c.1845T>A (p.Cys615Ter) c.2823T>A (p.Cys941Ter) n.2641T>A n.2849T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197429460T>C | CA422672255 | CRB1 | c.2688T>C (p.Cys896=) c.1569T>C (p.Cys523=) c.831T>C (p.Cys277=) c.2352T>C (p.Cys784=) c.2616T>C (p.Cys872=) c.2129-6140T>C (n.2129-6140T>C) n.2689T>C n.2897T>C c.2106T>C (p.Cys702=) c.1131T>C (p.Cys377=) c.1845T>C (p.Cys615=) c.2823T>C (p.Cys941=) n.2641T>C n.2849T>C | ClinVar dbSNP |
| 1 | g.197429460T>G | CA344040384 | CRB1 | c.2688T>G (p.Cys896Trp) c.1569T>G (p.Cys523Trp) c.831T>G (p.Cys277Trp) c.2352T>G (p.Cys784Trp) c.2616T>G (p.Cys872Trp) c.2129-6140T>G (n.2129-6140T>G) n.2689T>G n.2897T>G c.2106T>G (p.Cys702Trp) c.1131T>G (p.Cys377Trp) c.1845T>G (p.Cys615Trp) c.2823T>G (p.Cys941Trp) n.2641T>G n.2849T>G | |
| 1 | g.197429460T= | CA1140762952 | CRB1 | c.2688T= (p.Cys896=) c.1569T= (p.Cys523=) c.831T= (p.Cys277=) c.2352T= (p.Cys784=) c.2616T= (p.Cys872=) c.2129-6140T= (n.2129-6140T=) n.2689T= n.2897T= c.2106T= (p.Cys702=) c.1131T= (p.Cys377=) c.1845T= (p.Cys615=) c.2823T= (p.Cys941=) n.2641T= n.2849T= | |
| 1 | g.197429461C>A | CA344040389 | CRB1 | c.2689C>A (p.His897Asn) c.1570C>A (p.His524Asn) c.832C>A (p.His278Asn) c.2353C>A (p.His785Asn) c.2617C>A (p.His873Asn) c.2129-6139C>A (n.2129-6139C>A) n.2690C>A n.2898C>A c.2107C>A (p.His703Asn) c.1132C>A (p.His378Asn) c.1846C>A (p.His616Asn) c.2824C>A (p.His942Asn) n.2642C>A n.2850C>A | gnomAD v4 |
| 1 | g.197429461C= | CA1218065483 | CRB1 | c.2689C= (p.His897=) c.1570C= (p.His524=) c.832C= (p.His278=) c.2353C= (p.His785=) c.2617C= (p.His873=) c.2129-6139C= (n.2129-6139C=) n.2690C= n.2898C= c.2107C= (p.His703=) c.1132C= (p.His378=) c.1846C= (p.His616=) c.2824C= (p.His942=) n.2642C= n.2850C= | |
| 1 | g.197429461C>G | CA344040387 | CRB1 | c.2689C>G (p.His897Asp) c.1570C>G (p.His524Asp) c.832C>G (p.His278Asp) c.2353C>G (p.His785Asp) c.2617C>G (p.His873Asp) c.2129-6139C>G (n.2129-6139C>G) n.2690C>G n.2898C>G c.2107C>G (p.His703Asp) c.1132C>G (p.His378Asp) c.1846C>G (p.His616Asp) c.2824C>G (p.His942Asp) n.2642C>G n.2850C>G | |
| 1 | g.197429461C>T | CA344040388 | CRB1 | c.2689C>T (p.His897Tyr) c.1570C>T (p.His524Tyr) c.832C>T (p.His278Tyr) c.2353C>T (p.His785Tyr) c.2617C>T (p.His873Tyr) c.2129-6139C>T (n.2129-6139C>T) n.2690C>T n.2898C>T c.2107C>T (p.His703Tyr) c.1132C>T (p.His378Tyr) c.1846C>T (p.His616Tyr) c.2824C>T (p.His942Tyr) n.2642C>T n.2850C>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197429462A>C | CA344040392 | CRB1 | c.2690A>C (p.His897Pro) c.1571A>C (p.His524Pro) c.833A>C (p.His278Pro) c.2354A>C (p.His785Pro) c.2618A>C (p.His873Pro) c.2129-6138A>C (n.2129-6138A>C) n.2691A>C n.2899A>C c.2108A>C (p.His703Pro) c.1133A>C (p.His378Pro) c.1847A>C (p.His616Pro) c.2825A>C (p.His942Pro) n.2643A>C n.2851A>C | |
| 1 | g.197429462A>G | CA344040394 | CRB1 | c.2690A>G (p.His897Arg) c.1571A>G (p.His524Arg) c.833A>G (p.His278Arg) c.2354A>G (p.His785Arg) c.2618A>G (p.His873Arg) c.2129-6138A>G (n.2129-6138A>G) n.2691A>G n.2899A>G c.2108A>G (p.His703Arg) c.1133A>G (p.His378Arg) c.1847A>G (p.His616Arg) c.2825A>G (p.His942Arg) n.2643A>G n.2851A>G | |
| 1 | g.197429462A>T | CA344040395 | CRB1 | c.2690A>T (p.His897Leu) c.1571A>T (p.His524Leu) c.833A>T (p.His278Leu) c.2354A>T (p.His785Leu) c.2618A>T (p.His873Leu) c.2129-6138A>T (n.2129-6138A>T) n.2691A>T n.2899A>T c.2108A>T (p.His703Leu) c.1133A>T (p.His378Leu) c.1847A>T (p.His616Leu) c.2825A>T (p.His942Leu) n.2643A>T n.2851A>T | |
| 1 | g.197429463C>A | CA344040398 | CRB1 | c.2691C>A (p.His897Gln) c.1572C>A (p.His524Gln) c.834C>A (p.His278Gln) c.2355C>A (p.His785Gln) c.2619C>A (p.His873Gln) c.2129-6137C>A (n.2129-6137C>A) n.2692C>A n.2900C>A c.2109C>A (p.His703Gln) c.1134C>A (p.His378Gln) c.1848C>A (p.His616Gln) c.2826C>A (p.His942Gln) n.2644C>A n.2852C>A | |
| 1 | g.197429463C= | CA1218065486 | CRB1 | c.2691C= (p.His897=) c.1572C= (p.His524=) c.834C= (p.His278=) c.2355C= (p.His785=) c.2619C= (p.His873=) c.2129-6137C= (n.2129-6137C=) n.2692C= n.2900C= c.2109C= (p.His703=) c.1134C= (p.His378=) c.1848C= (p.His616=) c.2826C= (p.His942=) n.2644C= n.2852C= | |
| 1 | g.197429463C>G | CA344040399 | CRB1 | c.2691C>G (p.His897Gln) c.1572C>G (p.His524Gln) c.834C>G (p.His278Gln) c.2355C>G (p.His785Gln) c.2619C>G (p.His873Gln) c.2129-6137C>G (n.2129-6137C>G) n.2692C>G n.2900C>G c.2109C>G (p.His703Gln) c.1134C>G (p.His378Gln) c.1848C>G (p.His616Gln) c.2826C>G (p.His942Gln) n.2644C>G n.2852C>G | |
| 1 | g.197429463C>T | CA422672256 | CRB1 | c.2691C>T (p.His897=) c.1572C>T (p.His524=) c.834C>T (p.His278=) c.2355C>T (p.His785=) c.2619C>T (p.His873=) c.2129-6137C>T (n.2129-6137C>T) n.2692C>T n.2900C>T c.2109C>T (p.His703=) c.1134C>T (p.His378=) c.1848C>T (p.His616=) c.2826C>T (p.His942=) n.2644C>T n.2852C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197429464A>C | CA344040404 | CRB1 | c.2692A>C (p.Asn898His) c.1573A>C (p.Asn525His) c.835A>C (p.Asn279His) c.2356A>C (p.Asn786His) c.2620A>C (p.Asn874His) c.2129-6136A>C (n.2129-6136A>C) n.2693A>C n.2901A>C c.2110A>C (p.Asn704His) c.1135A>C (p.Asn379His) c.1849A>C (p.Asn617His) c.2827A>C (p.Asn943His) n.2645A>C n.2853A>C | gnomAD v4 |
| 1 | g.197429464A>G | CA344040401 | CRB1 | c.2692A>G (p.Asn898Asp) c.1573A>G (p.Asn525Asp) c.835A>G (p.Asn279Asp) c.2356A>G (p.Asn786Asp) c.2620A>G (p.Asn874Asp) c.2129-6136A>G (n.2129-6136A>G) n.2693A>G n.2901A>G c.2110A>G (p.Asn704Asp) c.1135A>G (p.Asn379Asp) c.1849A>G (p.Asn617Asp) c.2827A>G (p.Asn943Asp) n.2645A>G n.2853A>G | |
| 1 | g.197429464A>T | CA344040402 | CRB1 | c.2692A>T (p.Asn898Tyr) c.1573A>T (p.Asn525Tyr) c.835A>T (p.Asn279Tyr) c.2356A>T (p.Asn786Tyr) c.2620A>T (p.Asn874Tyr) c.2129-6136A>T (n.2129-6136A>T) n.2693A>T n.2901A>T c.2110A>T (p.Asn704Tyr) c.1135A>T (p.Asn379Tyr) c.1849A>T (p.Asn617Tyr) c.2827A>T (p.Asn943Tyr) n.2645A>T n.2853A>T | |
| 1 | g.197429465A= | CA1218065492 | CRB1 | c.2693A= (p.Asn898=) c.1574A= (p.Asn525=) c.836A= (p.Asn279=) c.2357A= (p.Asn786=) c.2621A= (p.Asn874=) c.2129-6135A= (n.2129-6135A=) n.2694A= n.2902A= c.2111A= (p.Asn704=) c.1136A= (p.Asn379=) c.1850A= (p.Asn617=) c.2828A= (p.Asn943=) n.2646A= n.2854A= | |
| 1 | g.197429465A>C | CA344040406 | CRB1 | c.2693A>C (p.Asn898Thr) c.1574A>C (p.Asn525Thr) c.836A>C (p.Asn279Thr) c.2357A>C (p.Asn786Thr) c.2621A>C (p.Asn874Thr) c.2129-6135A>C (n.2129-6135A>C) n.2694A>C n.2902A>C c.2111A>C (p.Asn704Thr) c.1136A>C (p.Asn379Thr) c.1850A>C (p.Asn617Thr) c.2828A>C (p.Asn943Thr) n.2646A>C n.2854A>C | |
| 1 | g.197429465A>G | CA1312193 | CRB1 | c.2693A>G (p.Asn898Ser) c.1574A>G (p.Asn525Ser) c.836A>G (p.Asn279Ser) c.2357A>G (p.Asn786Ser) c.2621A>G (p.Asn874Ser) c.2129-6135A>G (n.2129-6135A>G) n.2694A>G n.2902A>G c.2111A>G (p.Asn704Ser) c.1136A>G (p.Asn379Ser) c.1850A>G (p.Asn617Ser) c.2828A>G (p.Asn943Ser) n.2646A>G n.2854A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197429465A>T | CA344040409 | CRB1 | c.2693A>T (p.Asn898Ile) c.1574A>T (p.Asn525Ile) c.836A>T (p.Asn279Ile) c.2357A>T (p.Asn786Ile) c.2621A>T (p.Asn874Ile) c.2129-6135A>T (n.2129-6135A>T) n.2694A>T n.2902A>T c.2111A>T (p.Asn704Ile) c.1136A>T (p.Asn379Ile) c.1850A>T (p.Asn617Ile) c.2828A>T (p.Asn943Ile) n.2646A>T n.2854A>T | |
| 1 | g.197429466T>A | CA344040411 | CRB1 | c.2694T>A (p.Asn898Lys) c.1575T>A (p.Asn525Lys) c.837T>A (p.Asn279Lys) c.2358T>A (p.Asn786Lys) c.2622T>A (p.Asn874Lys) c.2129-6134T>A (n.2129-6134T>A) n.2695T>A n.2903T>A c.2112T>A (p.Asn704Lys) c.1137T>A (p.Asn379Lys) c.1851T>A (p.Asn617Lys) c.2829T>A (p.Asn943Lys) n.2647T>A n.2855T>A | |
| 1 | g.197429466T>C | CA422672257 | CRB1 | c.2694T>C (p.Asn898=) c.1575T>C (p.Asn525=) c.837T>C (p.Asn279=) c.2358T>C (p.Asn786=) c.2622T>C (p.Asn874=) c.2129-6134T>C (n.2129-6134T>C) n.2695T>C n.2903T>C c.2112T>C (p.Asn704=) c.1137T>C (p.Asn379=) c.1851T>C (p.Asn617=) c.2829T>C (p.Asn943=) n.2647T>C n.2855T>C | |
| 1 | g.197429466T>G | CA344040419 | CRB1 | c.2694T>G (p.Asn898Lys) c.1575T>G (p.Asn525Lys) c.837T>G (p.Asn279Lys) c.2358T>G (p.Asn786Lys) c.2622T>G (p.Asn874Lys) c.2129-6134T>G (n.2129-6134T>G) n.2695T>G n.2903T>G c.2112T>G (p.Asn704Lys) c.1137T>G (p.Asn379Lys) c.1851T>G (p.Asn617Lys) c.2829T>G (p.Asn943Lys) n.2647T>G n.2855T>G | ClinVar dbSNP gnomAD v4 |
| 1 | g.197429467G>A | CA344040422 | CRB1 | c.2695G>A (p.Gly899Arg) c.1576G>A (p.Gly526Arg) c.838G>A (p.Gly280Arg) c.2359G>A (p.Gly787Arg) c.2623G>A (p.Gly875Arg) c.2129-6133G>A (n.2129-6133G>A) n.2696G>A n.2904G>A c.2113G>A (p.Gly705Arg) c.1138G>A (p.Gly380Arg) c.1852G>A (p.Gly618Arg) c.2830G>A (p.Gly944Arg) n.2648G>A n.2856G>A | ClinVar COSMIC |
| 1 | g.197429467G>C | CA344040425 | CRB1 | c.2695G>C (p.Gly899Arg) c.1576G>C (p.Gly526Arg) c.838G>C (p.Gly280Arg) c.2359G>C (p.Gly787Arg) c.2623G>C (p.Gly875Arg) c.2129-6133G>C (n.2129-6133G>C) n.2696G>C n.2904G>C c.2113G>C (p.Gly705Arg) c.1138G>C (p.Gly380Arg) c.1852G>C (p.Gly618Arg) c.2830G>C (p.Gly944Arg) n.2648G>C n.2856G>C | |
| 1 | g.197429467G>T | CA344040423 | CRB1 | c.2695G>T (p.Gly899Ter) c.1576G>T (p.Gly526Ter) c.838G>T (p.Gly280Ter) c.2359G>T (p.Gly787Ter) c.2623G>T (p.Gly875Ter) c.2129-6133G>T (n.2129-6133G>T) n.2696G>T n.2904G>T c.2113G>T (p.Gly705Ter) c.1138G>T (p.Gly380Ter) c.1852G>T (p.Gly618Ter) c.2830G>T (p.Gly944Ter) n.2648G>T n.2856G>T | |
| 1 | g.197429468G>A | CA344040427 | CRB1 | c.2696G>A (p.Gly899Glu) c.1577G>A (p.Gly526Glu) c.839G>A (p.Gly280Glu) c.2360G>A (p.Gly787Glu) c.2624G>A (p.Gly875Glu) c.2129-6132G>A (n.2129-6132G>A) n.2697G>A n.2905G>A c.2114G>A (p.Gly705Glu) c.1139G>A (p.Gly380Glu) c.1853G>A (p.Gly618Glu) c.2831G>A (p.Gly944Glu) n.2649G>A n.2857G>A | dbSNP gnomAD v2 |
| 1 | g.197429468G>C | CA344040428 | CRB1 | c.2696G>C (p.Gly899Ala) c.1577G>C (p.Gly526Ala) c.839G>C (p.Gly280Ala) c.2360G>C (p.Gly787Ala) c.2624G>C (p.Gly875Ala) c.2129-6132G>C (n.2129-6132G>C) n.2697G>C n.2905G>C c.2114G>C (p.Gly705Ala) c.1139G>C (p.Gly380Ala) c.1853G>C (p.Gly618Ala) c.2831G>C (p.Gly944Ala) n.2649G>C n.2857G>C | ClinVar gnomAD v4 |
| 1 | g.197429468G= | CA1218065505 | CRB1 | c.2696G= (p.Gly899=) c.1577G= (p.Gly526=) c.839G= (p.Gly280=) c.2360G= (p.Gly787=) c.2624G= (p.Gly875=) c.2129-6132G= (n.2129-6132G=) n.2697G= n.2905G= c.2114G= (p.Gly705=) c.1139G= (p.Gly380=) c.1853G= (p.Gly618=) c.2831G= (p.Gly944=) n.2649G= n.2857G= | |
| 1 | g.197429468G>T | CA344040429 | CRB1 | c.2696G>T (p.Gly899Val) c.1577G>T (p.Gly526Val) c.839G>T (p.Gly280Val) c.2360G>T (p.Gly787Val) c.2624G>T (p.Gly875Val) c.2129-6132G>T (n.2129-6132G>T) n.2697G>T n.2905G>T c.2114G>T (p.Gly705Val) c.1139G>T (p.Gly380Val) c.1853G>T (p.Gly618Val) c.2831G>T (p.Gly944Val) n.2649G>T n.2857G>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.197429469A>C | CA422672260 | CRB1 | c.2697A>C (p.Gly899=) c.1578A>C (p.Gly526=) c.840A>C (p.Gly280=) c.2361A>C (p.Gly787=) c.2625A>C (p.Gly875=) c.2129-6131A>C (n.2129-6131A>C) n.2698A>C n.2906A>C c.2115A>C (p.Gly705=) c.1140A>C (p.Gly380=) c.1854A>C (p.Gly618=) c.2832A>C (p.Gly944=) n.2650A>C n.2858A>C | |
| 1 | g.197429469A>G | CA422672258 | CRB1 | c.2697A>G (p.Gly899=) c.1578A>G (p.Gly526=) c.840A>G (p.Gly280=) c.2361A>G (p.Gly787=) c.2625A>G (p.Gly875=) c.2129-6131A>G (n.2129-6131A>G) n.2698A>G n.2906A>G c.2115A>G (p.Gly705=) c.1140A>G (p.Gly380=) c.1854A>G (p.Gly618=) c.2832A>G (p.Gly944=) n.2650A>G n.2858A>G | |
| 1 | g.197429469A>T | CA422672259 | CRB1 | c.2697A>T (p.Gly899=) c.1578A>T (p.Gly526=) c.840A>T (p.Gly280=) c.2361A>T (p.Gly787=) c.2625A>T (p.Gly875=) c.2129-6131A>T (n.2129-6131A>T) n.2698A>T n.2906A>T c.2115A>T (p.Gly705=) c.1140A>T (p.Gly380=) c.1854A>T (p.Gly618=) c.2832A>T (p.Gly944=) n.2650A>T n.2858A>T | |
| 1 | g.197429470G>A | CA344040430 | CRB1 | c.2698G>A (p.Gly900Ser) c.1579G>A (p.Gly527Ser) c.841G>A (p.Gly281Ser) c.2362G>A (p.Gly788Ser) c.2626G>A (p.Gly876Ser) c.2129-6130G>A (n.2129-6130G>A) n.2699G>A n.2907G>A c.2116G>A (p.Gly706Ser) c.1141G>A (p.Gly381Ser) c.1855G>A (p.Gly619Ser) c.2833G>A (p.Gly945Ser) n.2651G>A n.2859G>A | ClinVar dbSNP |
| 1 | g.197429470G>C | CA344040431 | CRB1 | c.2698G>C (p.Gly900Arg) c.1579G>C (p.Gly527Arg) c.841G>C (p.Gly281Arg) c.2362G>C (p.Gly788Arg) c.2626G>C (p.Gly876Arg) c.2129-6130G>C (n.2129-6130G>C) n.2699G>C n.2907G>C c.2116G>C (p.Gly706Arg) c.1141G>C (p.Gly381Arg) c.1855G>C (p.Gly619Arg) c.2833G>C (p.Gly945Arg) n.2651G>C n.2859G>C | |
| 1 | g.197429470G>T | CA344040432 | CRB1 | c.2698G>T (p.Gly900Cys) c.1579G>T (p.Gly527Cys) c.841G>T (p.Gly281Cys) c.2362G>T (p.Gly788Cys) c.2626G>T (p.Gly876Cys) c.2129-6130G>T (n.2129-6130G>T) n.2699G>T n.2907G>T c.2116G>T (p.Gly706Cys) c.1141G>T (p.Gly381Cys) c.1855G>T (p.Gly619Cys) c.2833G>T (p.Gly945Cys) n.2651G>T n.2859G>T | COSMIC COSMIC |
| 1 | g.197429471G>A | CA344040433 | CRB1 | c.2699G>A (p.Gly900Asp) c.1580G>A (p.Gly527Asp) c.842G>A (p.Gly281Asp) c.2363G>A (p.Gly788Asp) c.2627G>A (p.Gly876Asp) c.2129-6129G>A (n.2129-6129G>A) n.2700G>A n.2908G>A c.2117G>A (p.Gly706Asp) c.1142G>A (p.Gly381Asp) c.1856G>A (p.Gly619Asp) c.2834G>A (p.Gly945Asp) n.2652G>A n.2860G>A | |
| 1 | g.197429471G>C | CA344040435 | CRB1 | c.2699G>C (p.Gly900Ala) c.1580G>C (p.Gly527Ala) c.842G>C (p.Gly281Ala) c.2363G>C (p.Gly788Ala) c.2627G>C (p.Gly876Ala) c.2129-6129G>C (n.2129-6129G>C) n.2700G>C n.2908G>C c.2117G>C (p.Gly706Ala) c.1142G>C (p.Gly381Ala) c.1856G>C (p.Gly619Ala) c.2834G>C (p.Gly945Ala) n.2652G>C n.2860G>C | |
| 1 | g.197429471G>T | CA344040436 | CRB1 | c.2699G>T (p.Gly900Val) c.1580G>T (p.Gly527Val) c.842G>T (p.Gly281Val) c.2363G>T (p.Gly788Val) c.2627G>T (p.Gly876Val) c.2129-6129G>T (n.2129-6129G>T) n.2700G>T n.2908G>T c.2117G>T (p.Gly706Val) c.1142G>T (p.Gly381Val) c.1856G>T (p.Gly619Val) c.2834G>T (p.Gly945Val) n.2652G>T n.2860G>T | COSMIC COSMIC |
| 1 | g.197429472T>A | CA422672261 | CRB1 | c.2700T>A (p.Gly900=) c.1581T>A (p.Gly527=) c.843T>A (p.Gly281=) c.2364T>A (p.Gly788=) c.2628T>A (p.Gly876=) c.2129-6128T>A (n.2129-6128T>A) n.2701T>A n.2909T>A c.2118T>A (p.Gly706=) c.1143T>A (p.Gly381=) c.1857T>A (p.Gly619=) c.2835T>A (p.Gly945=) n.2653T>A n.2861T>A | |
| 1 | g.197429472T>C | CA422672262 | CRB1 | c.2700T>C (p.Gly900=) c.1581T>C (p.Gly527=) c.843T>C (p.Gly281=) c.2364T>C (p.Gly788=) c.2628T>C (p.Gly876=) c.2129-6128T>C (n.2129-6128T>C) n.2701T>C n.2909T>C c.2118T>C (p.Gly706=) c.1143T>C (p.Gly381=) c.1857T>C (p.Gly619=) c.2835T>C (p.Gly945=) n.2653T>C n.2861T>C | gnomAD v4 |
| 1 | g.197429472T>G | CA422672263 | CRB1 | c.2700T>G (p.Gly900=) c.1581T>G (p.Gly527=) c.843T>G (p.Gly281=) c.2364T>G (p.Gly788=) c.2628T>G (p.Gly876=) c.2129-6128T>G (n.2129-6128T>G) n.2701T>G n.2909T>G c.2118T>G (p.Gly706=) c.1143T>G (p.Gly381=) c.1857T>G (p.Gly619=) c.2835T>G (p.Gly945=) n.2653T>G n.2861T>G | |
| 1 | g.197429473G>A | CA344040439 | CRB1 | c.2701G>A (p.Val901Ile) c.1582G>A (p.Val528Ile) c.844G>A (p.Val282Ile) c.2365G>A (p.Val789Ile) c.2629G>A (p.Val877Ile) c.2129-6127G>A (n.2129-6127G>A) n.2702G>A n.2910G>A c.2119G>A (p.Val707Ile) c.1144G>A (p.Val382Ile) c.1858G>A (p.Val620Ile) c.2836G>A (p.Val946Ile) n.2654G>A n.2862G>A | gnomAD v4 |
| 1 | g.197429473G>C | CA344040441 | CRB1 | c.2701G>C (p.Val901Leu) c.1582G>C (p.Val528Leu) c.844G>C (p.Val282Leu) c.2365G>C (p.Val789Leu) c.2629G>C (p.Val877Leu) c.2129-6127G>C (n.2129-6127G>C) n.2702G>C n.2910G>C c.2119G>C (p.Val707Leu) c.1144G>C (p.Val382Leu) c.1858G>C (p.Val620Leu) c.2836G>C (p.Val946Leu) n.2654G>C n.2862G>C | |
| 1 | g.197429473G= | CA1218065521 | CRB1 | c.2701G= (p.Val901=) c.1582G= (p.Val528=) c.844G= (p.Val282=) c.2365G= (p.Val789=) c.2629G= (p.Val877=) c.2129-6127G= (n.2129-6127G=) n.2702G= n.2910G= c.2119G= (p.Val707=) c.1144G= (p.Val382=) c.1858G= (p.Val620=) c.2836G= (p.Val946=) n.2654G= n.2862G= | |
| 1 | g.197429473G>T | CA344040443 | CRB1 | c.2701G>T (p.Val901Phe) c.1582G>T (p.Val528Phe) c.844G>T (p.Val282Phe) c.2365G>T (p.Val789Phe) c.2629G>T (p.Val877Phe) c.2129-6127G>T (n.2129-6127G>T) n.2702G>T n.2910G>T c.2119G>T (p.Val707Phe) c.1144G>T (p.Val382Phe) c.1858G>T (p.Val620Phe) c.2836G>T (p.Val946Phe) n.2654G>T n.2862G>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.197429473_197429474delinsGT | CA1218065519 | CRB1 | c.2701_2702delinsGT (p.Val901=) c.1582_1583delinsGT (p.Val528=) c.844_845delinsGT (p.Val282=) c.2365_2366delinsGT (p.Val789=) c.2629_2630delinsGT (p.Val877=) c.2129-6127_2129-6126delinsGT (n.2129-6127_2129-6126delinsGT) n.2702_2703delinsGT n.2910_2911delinsGT c.2119_2120delinsGT (p.Val707=) c.1144_1145delinsGT (p.Val382=) c.1858_1859delinsGT (p.Val620=) c.2836_2837delinsGT (p.Val946=) n.2654_2655delinsGT n.2862_2863delinsGT | |
| 1 | g.197429474T>A | CA344040449 | CRB1 | c.2702T>A (p.Val901Asp) c.1583T>A (p.Val528Asp) c.845T>A (p.Val282Asp) c.2366T>A (p.Val789Asp) c.2630T>A (p.Val877Asp) c.2129-6126T>A (n.2129-6126T>A) n.2703T>A n.2911T>A c.2120T>A (p.Val707Asp) c.1145T>A (p.Val382Asp) c.1859T>A (p.Val620Asp) c.2837T>A (p.Val946Asp) n.2655T>A n.2863T>A | dbSNP |