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.197435062G>A | CA344046562 | CRB1 | c.3199G>A (p.Ala1067Thr) c.2080G>A (p.Ala694Thr) c.1342G>A (p.Ala448Thr) c.2863G>A (p.Ala955Thr) c.3127G>A (p.Ala1043Thr) c.2129-538G>A (n.2129-538G>A) n.3200G>A n.3408G>A c.2617G>A (p.Ala873Thr) c.1642G>A (p.Ala548Thr) c.2356G>A (p.Ala786Thr) c.3334G>A (p.Ala1112Thr) n.3152G>A n.3360G>A | |
| 1 | g.197435062G>C | CA344046561 | CRB1 | c.3199G>C (p.Ala1067Pro) c.2080G>C (p.Ala694Pro) c.1342G>C (p.Ala448Pro) c.2863G>C (p.Ala955Pro) c.3127G>C (p.Ala1043Pro) c.2129-538G>C (n.2129-538G>C) n.3200G>C n.3408G>C c.2617G>C (p.Ala873Pro) c.1642G>C (p.Ala548Pro) c.2356G>C (p.Ala786Pro) c.3334G>C (p.Ala1112Pro) n.3152G>C n.3360G>C | |
| 1 | g.197435062G>T | CA344046560 | CRB1 | c.3199G>T (p.Ala1067Ser) c.2080G>T (p.Ala694Ser) c.1342G>T (p.Ala448Ser) c.2863G>T (p.Ala955Ser) c.3127G>T (p.Ala1043Ser) c.2129-538G>T (n.2129-538G>T) n.3200G>T n.3408G>T c.2617G>T (p.Ala873Ser) c.1642G>T (p.Ala548Ser) c.2356G>T (p.Ala786Ser) c.3334G>T (p.Ala1112Ser) n.3152G>T n.3360G>T | |
| 1 | g.197435063C>A | CA344046564 | CRB1 | c.3200C>A (p.Ala1067Asp) c.2081C>A (p.Ala694Asp) c.1343C>A (p.Ala448Asp) c.2864C>A (p.Ala955Asp) c.3128C>A (p.Ala1043Asp) c.2129-537C>A (n.2129-537C>A) n.3201C>A n.3409C>A c.2618C>A (p.Ala873Asp) c.1643C>A (p.Ala548Asp) c.2357C>A (p.Ala786Asp) c.3335C>A (p.Ala1112Asp) n.3153C>A n.3361C>A | |
| 1 | g.197435063C>G | CA344046566 | CRB1 | c.3200C>G (p.Ala1067Gly) c.2081C>G (p.Ala694Gly) c.1343C>G (p.Ala448Gly) c.2864C>G (p.Ala955Gly) c.3128C>G (p.Ala1043Gly) c.2129-537C>G (n.2129-537C>G) n.3201C>G n.3409C>G c.2618C>G (p.Ala873Gly) c.1643C>G (p.Ala548Gly) c.2357C>G (p.Ala786Gly) c.3335C>G (p.Ala1112Gly) n.3153C>G n.3361C>G | |
| 1 | g.197435063C>T | CA344046567 | CRB1 | c.3200C>T (p.Ala1067Val) c.2081C>T (p.Ala694Val) c.1343C>T (p.Ala448Val) c.2864C>T (p.Ala955Val) c.3128C>T (p.Ala1043Val) c.2129-537C>T (n.2129-537C>T) n.3201C>T n.3409C>T c.2618C>T (p.Ala873Val) c.1643C>T (p.Ala548Val) c.2357C>T (p.Ala786Val) c.3335C>T (p.Ala1112Val) n.3153C>T n.3361C>T | |
| 1 | g.197435064T>A | CA422809193 | CRB1 | c.3201T>A (p.Ala1067=) c.2082T>A (p.Ala694=) c.1344T>A (p.Ala448=) c.2865T>A (p.Ala955=) c.3129T>A (p.Ala1043=) c.2129-536T>A (n.2129-536T>A) n.3202T>A n.3410T>A c.2619T>A (p.Ala873=) c.1644T>A (p.Ala548=) c.2358T>A (p.Ala786=) c.3336T>A (p.Ala1112=) n.3154T>A n.3362T>A | |
| 1 | g.197435064T>C | CA422809194 | CRB1 | c.3201T>C (p.Ala1067=) c.2082T>C (p.Ala694=) c.1344T>C (p.Ala448=) c.2865T>C (p.Ala955=) c.3129T>C (p.Ala1043=) c.2129-536T>C (n.2129-536T>C) n.3202T>C n.3410T>C c.2619T>C (p.Ala873=) c.1644T>C (p.Ala548=) c.2358T>C (p.Ala786=) c.3336T>C (p.Ala1112=) n.3154T>C n.3362T>C | |
| 1 | g.197435064T>G | CA422809196 | CRB1 | c.3201T>G (p.Ala1067=) c.2082T>G (p.Ala694=) c.1344T>G (p.Ala448=) c.2865T>G (p.Ala955=) c.3129T>G (p.Ala1043=) c.2129-536T>G (n.2129-536T>G) n.3202T>G n.3410T>G c.2619T>G (p.Ala873=) c.1644T>G (p.Ala548=) c.2358T>G (p.Ala786=) c.3336T>G (p.Ala1112=) n.3154T>G n.3362T>G | |
| 1 | g.197435065A= | CA1218068776 | CRB1 | c.3202A= (p.Thr1068=) c.2083A= (p.Thr695=) c.1345A= (p.Thr449=) c.2866A= (p.Thr956=) c.3130A= (p.Thr1044=) c.2129-535A= (n.2129-535A=) n.3203A= n.3411A= c.2620A= (p.Thr874=) c.1645A= (p.Thr549=) c.2359A= (p.Thr787=) c.3337A= (p.Thr1113=) n.3155A= n.3363A= | |
| 1 | g.197435065A>C | CA344046571 | CRB1 | c.3202A>C (p.Thr1068Pro) c.2083A>C (p.Thr695Pro) c.1345A>C (p.Thr449Pro) c.2866A>C (p.Thr956Pro) c.3130A>C (p.Thr1044Pro) c.2129-535A>C (n.2129-535A>C) n.3203A>C n.3411A>C c.2620A>C (p.Thr874Pro) c.1645A>C (p.Thr549Pro) c.2359A>C (p.Thr787Pro) c.3337A>C (p.Thr1113Pro) n.3155A>C n.3363A>C | |
| 1 | g.197435065A>G | CA10608727 | CRB1 | c.3202A>G (p.Thr1068Ala) c.2083A>G (p.Thr695Ala) c.1345A>G (p.Thr449Ala) c.2866A>G (p.Thr956Ala) c.3130A>G (p.Thr1044Ala) c.2129-535A>G (n.2129-535A>G) n.3203A>G n.3411A>G c.2620A>G (p.Thr874Ala) c.1645A>G (p.Thr549Ala) c.2359A>G (p.Thr787Ala) c.3337A>G (p.Thr1113Ala) n.3155A>G n.3363A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197435065A>T | CA344046574 | CRB1 | c.3202A>T (p.Thr1068Ser) c.2083A>T (p.Thr695Ser) c.1345A>T (p.Thr449Ser) c.2866A>T (p.Thr956Ser) c.3130A>T (p.Thr1044Ser) c.2129-535A>T (n.2129-535A>T) n.3203A>T n.3411A>T c.2620A>T (p.Thr874Ser) c.1645A>T (p.Thr549Ser) c.2359A>T (p.Thr787Ser) c.3337A>T (p.Thr1113Ser) n.3155A>T n.3363A>T | |
| 1 | g.197435066C>A | CA344046577 | CRB1 | c.3203C>A (p.Thr1068Asn) c.2084C>A (p.Thr695Asn) c.1346C>A (p.Thr449Asn) c.2867C>A (p.Thr956Asn) c.3131C>A (p.Thr1044Asn) c.2129-534C>A (n.2129-534C>A) n.3204C>A n.3412C>A c.2621C>A (p.Thr874Asn) c.1646C>A (p.Thr549Asn) c.2360C>A (p.Thr787Asn) c.3338C>A (p.Thr1113Asn) n.3156C>A n.3364C>A | ClinVar dbSNP |
| 1 | g.197435066C= | CA1218068777 | CRB1 | c.3203C= (p.Thr1068=) c.2084C= (p.Thr695=) c.1346C= (p.Thr449=) c.2867C= (p.Thr956=) c.3131C= (p.Thr1044=) c.2129-534C= (n.2129-534C=) n.3204C= n.3412C= c.2621C= (p.Thr874=) c.1646C= (p.Thr549=) c.2360C= (p.Thr787=) c.3338C= (p.Thr1113=) n.3156C= n.3364C= | |
| 1 | g.197435066C>G | CA344046579 | CRB1 | c.3203C>G (p.Thr1068Ser) c.2084C>G (p.Thr695Ser) c.1346C>G (p.Thr449Ser) c.2867C>G (p.Thr956Ser) c.3131C>G (p.Thr1044Ser) c.2129-534C>G (n.2129-534C>G) n.3204C>G n.3412C>G c.2621C>G (p.Thr874Ser) c.1646C>G (p.Thr549Ser) c.2360C>G (p.Thr787Ser) c.3338C>G (p.Thr1113Ser) n.3156C>G n.3364C>G | |
| 1 | g.197435066C>T | CA344046581 | CRB1 | c.3203C>T (p.Thr1068Ile) c.2084C>T (p.Thr695Ile) c.1346C>T (p.Thr449Ile) c.2867C>T (p.Thr956Ile) c.3131C>T (p.Thr1044Ile) c.2129-534C>T (n.2129-534C>T) n.3204C>T n.3412C>T c.2621C>T (p.Thr874Ile) c.1646C>T (p.Thr549Ile) c.2360C>T (p.Thr787Ile) c.3338C>T (p.Thr1113Ile) n.3156C>T n.3364C>T | |
| 1 | g.197435067T>A | CA422809202 | CRB1 | c.3204T>A (p.Thr1068=) c.2085T>A (p.Thr695=) c.1347T>A (p.Thr449=) c.2868T>A (p.Thr956=) c.3132T>A (p.Thr1044=) c.2129-533T>A (n.2129-533T>A) n.3205T>A n.3413T>A c.2622T>A (p.Thr874=) c.1647T>A (p.Thr549=) c.2361T>A (p.Thr787=) c.3339T>A (p.Thr1113=) n.3157T>A n.3365T>A | |
| 1 | g.197435067T>C | CA422809205 | CRB1 | c.3204T>C (p.Thr1068=) c.2085T>C (p.Thr695=) c.1347T>C (p.Thr449=) c.2868T>C (p.Thr956=) c.3132T>C (p.Thr1044=) c.2129-533T>C (n.2129-533T>C) n.3205T>C n.3413T>C c.2622T>C (p.Thr874=) c.1647T>C (p.Thr549=) c.2361T>C (p.Thr787=) c.3339T>C (p.Thr1113=) n.3157T>C n.3365T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197435067T>G | CA422809208 | CRB1 | c.3204T>G (p.Thr1068=) c.2085T>G (p.Thr695=) c.1347T>G (p.Thr449=) c.2868T>G (p.Thr956=) c.3132T>G (p.Thr1044=) c.2129-533T>G (n.2129-533T>G) n.3205T>G n.3413T>G c.2622T>G (p.Thr874=) c.1647T>G (p.Thr549=) c.2361T>G (p.Thr787=) c.3339T>G (p.Thr1113=) n.3157T>G n.3365T>G | |
| 1 | g.197435067T= | CA1218068778 | CRB1 | c.3204T= (p.Thr1068=) c.2085T= (p.Thr695=) c.1347T= (p.Thr449=) c.2868T= (p.Thr956=) c.3132T= (p.Thr1044=) c.2129-533T= (n.2129-533T=) n.3205T= n.3413T= c.2622T= (p.Thr874=) c.1647T= (p.Thr549=) c.2361T= (p.Thr787=) c.3339T= (p.Thr1113=) n.3157T= n.3365T= | |
| 1 | g.197435068G>A | CA344046584 | CRB1 | c.3205G>A (p.Gly1069Arg) c.2086G>A (p.Gly696Arg) c.1348G>A (p.Gly450Arg) c.2869G>A (p.Gly957Arg) c.3133G>A (p.Gly1045Arg) c.2129-532G>A (n.2129-532G>A) n.3206G>A n.3414G>A c.2623G>A (p.Gly875Arg) c.1648G>A (p.Gly550Arg) c.2362G>A (p.Gly788Arg) c.3340G>A (p.Gly1114Arg) n.3158G>A n.3366G>A | |
| 1 | g.197435068G>C | CA344046586 | CRB1 | c.3205G>C (p.Gly1069Arg) c.2086G>C (p.Gly696Arg) c.1348G>C (p.Gly450Arg) c.2869G>C (p.Gly957Arg) c.3133G>C (p.Gly1045Arg) c.2129-532G>C (n.2129-532G>C) n.3206G>C n.3414G>C c.2623G>C (p.Gly875Arg) c.1648G>C (p.Gly550Arg) c.2362G>C (p.Gly788Arg) c.3340G>C (p.Gly1114Arg) n.3158G>C n.3366G>C | |
| 1 | g.197435068G>T | CA344046588 | CRB1 | c.3205G>T (p.Gly1069Ter) c.2086G>T (p.Gly696Ter) c.1348G>T (p.Gly450Ter) c.2869G>T (p.Gly957Ter) c.3133G>T (p.Gly1045Ter) c.2129-532G>T (n.2129-532G>T) n.3206G>T n.3414G>T c.2623G>T (p.Gly875Ter) c.1648G>T (p.Gly550Ter) c.2362G>T (p.Gly788Ter) c.3340G>T (p.Gly1114Ter) n.3158G>T n.3366G>T | |
| 1 | g.197435069G>A | CA344046593 | CRB1 | c.3206G>A (p.Gly1069Glu) c.2087G>A (p.Gly696Glu) c.1349G>A (p.Gly450Glu) c.2870G>A (p.Gly957Glu) c.3134G>A (p.Gly1045Glu) c.2129-531G>A (n.2129-531G>A) n.3207G>A n.3415G>A c.2624G>A (p.Gly875Glu) c.1649G>A (p.Gly550Glu) c.2363G>A (p.Gly788Glu) c.3341G>A (p.Gly1114Glu) n.3159G>A n.3367G>A | gnomAD v4 |
| 1 | g.197435069G>C | CA344046595 | CRB1 | c.3206G>C (p.Gly1069Ala) c.2087G>C (p.Gly696Ala) c.1349G>C (p.Gly450Ala) c.2870G>C (p.Gly957Ala) c.3134G>C (p.Gly1045Ala) c.2129-531G>C (n.2129-531G>C) n.3207G>C n.3415G>C c.2624G>C (p.Gly875Ala) c.1649G>C (p.Gly550Ala) c.2363G>C (p.Gly788Ala) c.3341G>C (p.Gly1114Ala) n.3159G>C n.3367G>C | |
| 1 | g.197435069G>T | CA344046591 | CRB1 | c.3206G>T (p.Gly1069Val) c.2087G>T (p.Gly696Val) c.1349G>T (p.Gly450Val) c.2870G>T (p.Gly957Val) c.3134G>T (p.Gly1045Val) c.2129-531G>T (n.2129-531G>T) n.3207G>T n.3415G>T c.2624G>T (p.Gly875Val) c.1649G>T (p.Gly550Val) c.2363G>T (p.Gly788Val) c.3341G>T (p.Gly1114Val) n.3159G>T n.3367G>T | |
| 1 | g.197435070A>C | CA422809215 | CRB1 | c.3207A>C (p.Gly1069=) c.2088A>C (p.Gly696=) c.1350A>C (p.Gly450=) c.2871A>C (p.Gly957=) c.3135A>C (p.Gly1045=) c.2129-530A>C (n.2129-530A>C) n.3208A>C n.3416A>C c.2625A>C (p.Gly875=) c.1650A>C (p.Gly550=) c.2364A>C (p.Gly788=) c.3342A>C (p.Gly1114=) n.3160A>C n.3368A>C | |
| 1 | g.197435070A>G | CA422809214 | CRB1 | c.3207A>G (p.Gly1069=) c.2088A>G (p.Gly696=) c.1350A>G (p.Gly450=) c.2871A>G (p.Gly957=) c.3135A>G (p.Gly1045=) c.2129-530A>G (n.2129-530A>G) n.3208A>G n.3416A>G c.2625A>G (p.Gly875=) c.1650A>G (p.Gly550=) c.2364A>G (p.Gly788=) c.3342A>G (p.Gly1114=) n.3160A>G n.3368A>G | |
| 1 | g.197435070A>T | CA422809213 | CRB1 | c.3207A>T (p.Gly1069=) c.2088A>T (p.Gly696=) c.1350A>T (p.Gly450=) c.2871A>T (p.Gly957=) c.3135A>T (p.Gly1045=) c.2129-530A>T (n.2129-530A>T) n.3208A>T n.3416A>T c.2625A>T (p.Gly875=) c.1650A>T (p.Gly550=) c.2364A>T (p.Gly788=) c.3342A>T (p.Gly1114=) n.3160A>T n.3368A>T | |
| 1 | g.197435071A>C | CA344046598 | CRB1 | c.3208A>C (p.Ser1070Arg) c.2089A>C (p.Ser697Arg) c.1351A>C (p.Ser451Arg) c.2872A>C (p.Ser958Arg) c.3136A>C (p.Ser1046Arg) c.2129-529A>C (n.2129-529A>C) n.3209A>C n.3417A>C c.2626A>C (p.Ser876Arg) c.1651A>C (p.Ser551Arg) c.2365A>C (p.Ser789Arg) c.3343A>C (p.Ser1115Arg) n.3161A>C n.3369A>C | |
| 1 | g.197435071A>G | CA344046600 | CRB1 | c.3208A>G (p.Ser1070Gly) c.2089A>G (p.Ser697Gly) c.1351A>G (p.Ser451Gly) c.2872A>G (p.Ser958Gly) c.3136A>G (p.Ser1046Gly) c.2129-529A>G (n.2129-529A>G) n.3209A>G n.3417A>G c.2626A>G (p.Ser876Gly) c.1651A>G (p.Ser551Gly) c.2365A>G (p.Ser789Gly) c.3343A>G (p.Ser1115Gly) n.3161A>G n.3369A>G | |
| 1 | g.197435071A>T | CA344046602 | CRB1 | c.3208A>T (p.Ser1070Cys) c.2089A>T (p.Ser697Cys) c.1351A>T (p.Ser451Cys) c.2872A>T (p.Ser958Cys) c.3136A>T (p.Ser1046Cys) c.2129-529A>T (n.2129-529A>T) n.3209A>T n.3417A>T c.2626A>T (p.Ser876Cys) c.1651A>T (p.Ser551Cys) c.2365A>T (p.Ser789Cys) c.3343A>T (p.Ser1115Cys) n.3161A>T n.3369A>T | |
| 1 | g.197435072G>A | CA344046605 | CRB1 | c.3209G>A (p.Ser1070Asn) c.2090G>A (p.Ser697Asn) c.1352G>A (p.Ser451Asn) c.2873G>A (p.Ser958Asn) c.3137G>A (p.Ser1046Asn) c.2129-528G>A (n.2129-528G>A) n.3210G>A n.3418G>A c.2627G>A (p.Ser876Asn) c.1652G>A (p.Ser551Asn) c.2366G>A (p.Ser789Asn) c.3344G>A (p.Ser1115Asn) n.3162G>A n.3370G>A | |
| 1 | g.197435072G>C | CA344046607 | CRB1 | c.3209G>C (p.Ser1070Thr) c.2090G>C (p.Ser697Thr) c.1352G>C (p.Ser451Thr) c.2873G>C (p.Ser958Thr) c.3137G>C (p.Ser1046Thr) c.2129-528G>C (n.2129-528G>C) n.3210G>C n.3418G>C c.2627G>C (p.Ser876Thr) c.1652G>C (p.Ser551Thr) c.2366G>C (p.Ser789Thr) c.3344G>C (p.Ser1115Thr) n.3162G>C n.3370G>C | gnomAD v4 |
| 1 | g.197435072G= | CA1218068779 | CRB1 | c.3209G= (p.Ser1070=) c.2090G= (p.Ser697=) c.1352G= (p.Ser451=) c.2873G= (p.Ser958=) c.3137G= (p.Ser1046=) c.2129-528G= (n.2129-528G=) n.3210G= n.3418G= c.2627G= (p.Ser876=) c.1652G= (p.Ser551=) c.2366G= (p.Ser789=) c.3344G= (p.Ser1115=) n.3162G= n.3370G= | |
| 1 | g.197435072G>T | CA344046609 | CRB1 | c.3209G>T (p.Ser1070Ile) c.2090G>T (p.Ser697Ile) c.1352G>T (p.Ser451Ile) c.2873G>T (p.Ser958Ile) c.3137G>T (p.Ser1046Ile) c.2129-528G>T (n.2129-528G>T) n.3210G>T n.3418G>T c.2627G>T (p.Ser876Ile) c.1652G>T (p.Ser551Ile) c.2366G>T (p.Ser789Ile) c.3344G>T (p.Ser1115Ile) n.3162G>T n.3370G>T | ClinVar dbSNP |
| 1 | g.197435073C>A | CA344046611 | CRB1 | c.3210C>A (p.Ser1070Arg) c.2091C>A (p.Ser697Arg) c.1353C>A (p.Ser451Arg) c.2874C>A (p.Ser958Arg) c.3138C>A (p.Ser1046Arg) c.2129-527C>A (n.2129-527C>A) n.3211C>A n.3419C>A c.2628C>A (p.Ser876Arg) c.1653C>A (p.Ser551Arg) c.2367C>A (p.Ser789Arg) c.3345C>A (p.Ser1115Arg) n.3163C>A n.3371C>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.197435073C= | CA1218068780 | CRB1 | c.3210C= (p.Ser1070=) c.2091C= (p.Ser697=) c.1353C= (p.Ser451=) c.2874C= (p.Ser958=) c.3138C= (p.Ser1046=) c.2129-527C= (n.2129-527C=) n.3211C= n.3419C= c.2628C= (p.Ser876=) c.1653C= (p.Ser551=) c.2367C= (p.Ser789=) c.3345C= (p.Ser1115=) n.3163C= n.3371C= | |
| 1 | g.197435073C>G | CA344046612 | CRB1 | c.3210C>G (p.Ser1070Arg) c.2091C>G (p.Ser697Arg) c.1353C>G (p.Ser451Arg) c.2874C>G (p.Ser958Arg) c.3138C>G (p.Ser1046Arg) c.2129-527C>G (n.2129-527C>G) n.3211C>G n.3419C>G c.2628C>G (p.Ser876Arg) c.1653C>G (p.Ser551Arg) c.2367C>G (p.Ser789Arg) c.3345C>G (p.Ser1115Arg) n.3163C>G n.3371C>G | |
| 1 | g.197435073C>T | CA422809221 | CRB1 | c.3210C>T (p.Ser1070=) c.2091C>T (p.Ser697=) c.1353C>T (p.Ser451=) c.2874C>T (p.Ser958=) c.3138C>T (p.Ser1046=) c.2129-527C>T (n.2129-527C>T) n.3211C>T n.3419C>T c.2628C>T (p.Ser876=) c.1653C>T (p.Ser551=) c.2367C>T (p.Ser789=) c.3345C>T (p.Ser1115=) n.3163C>T n.3371C>T | COSMIC COSMIC |
| 1 | g.197435074C>A | CA344046615 | CRB1 | c.3211C>A (p.Leu1071Ile) c.2092C>A (p.Leu698Ile) c.1354C>A (p.Leu452Ile) c.2875C>A (p.Leu959Ile) c.3139C>A (p.Leu1047Ile) c.2129-526C>A (n.2129-526C>A) n.3212C>A n.3420C>A c.2629C>A (p.Leu877Ile) c.1654C>A (p.Leu552Ile) c.2368C>A (p.Leu790Ile) c.3346C>A (p.Leu1116Ile) n.3164C>A n.3372C>A | gnomAD v4 |
| 1 | g.197435074C= | CA1144233385 | CRB1 | c.3211C= (p.Leu1071=) c.2092C= (p.Leu698=) c.1354C= (p.Leu452=) c.2875C= (p.Leu959=) c.3139C= (p.Leu1047=) c.2129-526C= (n.2129-526C=) n.3212C= n.3420C= c.2629C= (p.Leu877=) c.1654C= (p.Leu552=) c.2368C= (p.Leu790=) c.3346C= (p.Leu1116=) n.3164C= n.3372C= | |
| 1 | g.197435074C>G | CA344046617 | CRB1 | c.3211C>G (p.Leu1071Val) c.2092C>G (p.Leu698Val) c.1354C>G (p.Leu452Val) c.2875C>G (p.Leu959Val) c.3139C>G (p.Leu1047Val) c.2129-526C>G (n.2129-526C>G) n.3212C>G n.3420C>G c.2629C>G (p.Leu877Val) c.1654C>G (p.Leu552Val) c.2368C>G (p.Leu790Val) c.3346C>G (p.Leu1116Val) n.3164C>G n.3372C>G | |
| 1 | g.197435074C>T | CA224389 | CRB1 | c.3211C>T (p.Leu1071Phe) c.2092C>T (p.Leu698Phe) c.1354C>T (p.Leu452Phe) c.2875C>T (p.Leu959Phe) c.3139C>T (p.Leu1047Phe) c.2129-526C>T (n.2129-526C>T) n.3212C>T n.3420C>T c.2629C>T (p.Leu877Phe) c.1654C>T (p.Leu552Phe) c.2368C>T (p.Leu790Phe) c.3346C>T (p.Leu1116Phe) n.3164C>T n.3372C>T | ClinVar dbSNP |
| 1 | g.197435075T>A | CA344046621 | CRB1 | c.3212T>A (p.Leu1071His) c.2093T>A (p.Leu698His) c.1355T>A (p.Leu452His) c.2876T>A (p.Leu959His) c.3140T>A (p.Leu1047His) c.2129-525T>A (n.2129-525T>A) n.3213T>A n.3421T>A c.2630T>A (p.Leu877His) c.1655T>A (p.Leu552His) c.2369T>A (p.Leu790His) c.3347T>A (p.Leu1116His) n.3165T>A n.3373T>A | |
| 1 | g.197435075T>C | CA228034 | CRB1 | c.3212T>C (p.Leu1071Pro) c.2093T>C (p.Leu698Pro) c.1355T>C (p.Leu452Pro) c.2876T>C (p.Leu959Pro) c.3140T>C (p.Leu1047Pro) c.2129-525T>C (n.2129-525T>C) n.3213T>C n.3421T>C c.2630T>C (p.Leu877Pro) c.1655T>C (p.Leu552Pro) c.2369T>C (p.Leu790Pro) c.3347T>C (p.Leu1116Pro) n.3165T>C n.3373T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197435075T>G | CA344046625 | CRB1 | c.3212T>G (p.Leu1071Arg) c.2093T>G (p.Leu698Arg) c.1355T>G (p.Leu452Arg) c.2876T>G (p.Leu959Arg) c.3140T>G (p.Leu1047Arg) c.2129-525T>G (n.2129-525T>G) n.3213T>G n.3421T>G c.2630T>G (p.Leu877Arg) c.1655T>G (p.Leu552Arg) c.2369T>G (p.Leu790Arg) c.3347T>G (p.Leu1116Arg) n.3165T>G n.3373T>G | |
| 1 | g.197435075T= | CA1140762962 | CRB1 | c.3212T= (p.Leu1071=) c.2093T= (p.Leu698=) c.1355T= (p.Leu452=) c.2876T= (p.Leu959=) c.3140T= (p.Leu1047=) c.2129-525T= (n.2129-525T=) n.3213T= n.3421T= c.2630T= (p.Leu877=) c.1655T= (p.Leu552=) c.2369T= (p.Leu790=) c.3347T= (p.Leu1116=) n.3165T= n.3373T= | |
| 1 | g.197435076C>A | CA422809229 | CRB1 | c.3213C>A (p.Leu1071=) c.2094C>A (p.Leu698=) c.1356C>A (p.Leu452=) c.2877C>A (p.Leu959=) c.3141C>A (p.Leu1047=) c.2129-524C>A (n.2129-524C>A) n.3214C>A n.3422C>A c.2631C>A (p.Leu877=) c.1656C>A (p.Leu552=) c.2370C>A (p.Leu790=) c.3348C>A (p.Leu1116=) n.3166C>A n.3374C>A |