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 |
|---|---|---|---|---|---|
| 1 | g.197435162T>A | CA344047021 | CRB1 | c.3299T>A (p.Ile1100Lys) c.2180T>A (p.Ile727Lys) c.1442T>A (p.Ile481Lys) c.2963T>A (p.Ile988Lys) c.3227T>A (p.Ile1076Lys) c.2129-438T>A (n.2129-438T>A) n.3300T>A n.3508T>A c.2717T>A (p.Ile906Lys) c.1742T>A (p.Ile581Lys) c.2456T>A (p.Ile819Lys) c.3434T>A (p.Ile1145Lys) n.3252T>A n.3460T>A | |
| 1 | g.197435162T>C | CA228035 | CRB1 | c.3299T>C (p.Ile1100Thr) c.2180T>C (p.Ile727Thr) c.1442T>C (p.Ile481Thr) c.2963T>C (p.Ile988Thr) c.3227T>C (p.Ile1076Thr) c.2129-438T>C (n.2129-438T>C) n.3300T>C n.3508T>C c.2717T>C (p.Ile906Thr) c.1742T>C (p.Ile581Thr) c.2456T>C (p.Ile819Thr) c.3434T>C (p.Ile1145Thr) n.3252T>C n.3460T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197435162T>G | CA117707 | CRB1 | c.3299T>G (p.Ile1100Arg) c.2180T>G (p.Ile727Arg) c.1442T>G (p.Ile481Arg) c.2963T>G (p.Ile988Arg) c.3227T>G (p.Ile1076Arg) c.2129-438T>G (n.2129-438T>G) n.3300T>G n.3508T>G c.2717T>G (p.Ile906Arg) c.1742T>G (p.Ile581Arg) c.2456T>G (p.Ile819Arg) c.3434T>G (p.Ile1145Arg) n.3252T>G n.3460T>G | ClinVar dbSNP |
| 1 | g.197435162T= | CA1140762963 | CRB1 | c.3299T= (p.Ile1100=) c.2180T= (p.Ile727=) c.1442T= (p.Ile481=) c.2963T= (p.Ile988=) c.3227T= (p.Ile1076=) c.2129-438T= (n.2129-438T=) n.3300T= n.3508T= c.2717T= (p.Ile906=) c.1742T= (p.Ile581=) c.2456T= (p.Ile819=) c.3434T= (p.Ile1145=) n.3252T= n.3460T= | |
| 1 | g.197435163A= | CA1218068819 | CRB1 | c.3300A= (p.Ile1100=) c.2181A= (p.Ile727=) c.1443A= (p.Ile481=) c.2964A= (p.Ile988=) c.3228A= (p.Ile1076=) c.2129-437A= (n.2129-437A=) n.3301A= n.3509A= c.2718A= (p.Ile906=) c.1743A= (p.Ile581=) c.2457A= (p.Ile819=) c.3435A= (p.Ile1145=) n.3253A= n.3461A= | |
| 1 | g.197435163A>C | CA422809118 | CRB1 | c.3300A>C (p.Ile1100=) c.2181A>C (p.Ile727=) c.1443A>C (p.Ile481=) c.2964A>C (p.Ile988=) c.3228A>C (p.Ile1076=) c.2129-437A>C (n.2129-437A>C) n.3301A>C n.3509A>C c.2718A>C (p.Ile906=) c.1743A>C (p.Ile581=) c.2457A>C (p.Ile819=) c.3435A>C (p.Ile1145=) n.3253A>C n.3461A>C | COSMIC |
| 1 | g.197435163A>G | CA344047022 | CRB1 | c.3300A>G (p.Ile1100Met) c.2181A>G (p.Ile727Met) c.1443A>G (p.Ile481Met) c.2964A>G (p.Ile988Met) c.3228A>G (p.Ile1076Met) c.2129-437A>G (n.2129-437A>G) n.3301A>G n.3509A>G c.2718A>G (p.Ile906Met) c.1743A>G (p.Ile581Met) c.2457A>G (p.Ile819Met) c.3435A>G (p.Ile1145Met) n.3253A>G n.3461A>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197435163A>T | CA422809120 | CRB1 | c.3300A>T (p.Ile1100=) c.2181A>T (p.Ile727=) c.1443A>T (p.Ile481=) c.2964A>T (p.Ile988=) c.3228A>T (p.Ile1076=) c.2129-437A>T (n.2129-437A>T) n.3301A>T n.3509A>T c.2718A>T (p.Ile906=) c.1743A>T (p.Ile581=) c.2457A>T (p.Ile819=) c.3435A>T (p.Ile1145=) n.3253A>T n.3461A>T | |
| 1 | g.197435164G>A | CA344047023 | CRB1 | c.3301G>A (p.Glu1101Lys) c.2182G>A (p.Glu728Lys) c.1444G>A (p.Glu482Lys) c.2965G>A (p.Glu989Lys) c.3229G>A (p.Glu1077Lys) c.2129-436G>A (n.2129-436G>A) n.3302G>A n.3510G>A c.2719G>A (p.Glu907Lys) c.1744G>A (p.Glu582Lys) c.2458G>A (p.Glu820Lys) c.3436G>A (p.Glu1146Lys) n.3254G>A n.3462G>A | dbSNP |
| 1 | g.197435164G>C | CA344047025 | CRB1 | c.3301G>C (p.Glu1101Gln) c.2182G>C (p.Glu728Gln) c.1444G>C (p.Glu482Gln) c.2965G>C (p.Glu989Gln) c.3229G>C (p.Glu1077Gln) c.2129-436G>C (n.2129-436G>C) n.3302G>C n.3510G>C c.2719G>C (p.Glu907Gln) c.1744G>C (p.Glu582Gln) c.2458G>C (p.Glu820Gln) c.3436G>C (p.Glu1146Gln) n.3254G>C n.3462G>C | |
| 1 | g.197435164G= | CA1218068820 | CRB1 | c.3301G= (p.Glu1101=) c.2182G= (p.Glu728=) c.1444G= (p.Glu482=) c.2965G= (p.Glu989=) c.3229G= (p.Glu1077=) c.2129-436G= (n.2129-436G=) n.3302G= n.3510G= c.2719G= (p.Glu907=) c.1744G= (p.Glu582=) c.2458G= (p.Glu820=) c.3436G= (p.Glu1146=) n.3254G= n.3462G= | |
| 1 | g.197435164G>T | CA344047024 | CRB1 | c.3301G>T (p.Glu1101Ter) c.2182G>T (p.Glu728Ter) c.1444G>T (p.Glu482Ter) c.2965G>T (p.Glu989Ter) c.3229G>T (p.Glu1077Ter) c.2129-436G>T (n.2129-436G>T) n.3302G>T n.3510G>T c.2719G>T (p.Glu907Ter) c.1744G>T (p.Glu582Ter) c.2458G>T (p.Glu820Ter) c.3436G>T (p.Glu1146Ter) n.3254G>T n.3462G>T | COSMIC |
| 1 | g.197435165A>C | CA344047026 | CRB1 | c.3302A>C (p.Glu1101Ala) c.2183A>C (p.Glu728Ala) c.1445A>C (p.Glu482Ala) c.2966A>C (p.Glu989Ala) c.3230A>C (p.Glu1077Ala) c.2129-435A>C (n.2129-435A>C) n.3303A>C n.3511A>C c.2720A>C (p.Glu907Ala) c.1745A>C (p.Glu582Ala) c.2459A>C (p.Glu820Ala) c.3437A>C (p.Glu1146Ala) n.3255A>C n.3463A>C | |
| 1 | g.197435165A>G | CA344047027 | CRB1 | c.3302A>G (p.Glu1101Gly) c.2183A>G (p.Glu728Gly) c.1445A>G (p.Glu482Gly) c.2966A>G (p.Glu989Gly) c.3230A>G (p.Glu1077Gly) c.2129-435A>G (n.2129-435A>G) n.3303A>G n.3511A>G c.2720A>G (p.Glu907Gly) c.1745A>G (p.Glu582Gly) c.2459A>G (p.Glu820Gly) c.3437A>G (p.Glu1146Gly) n.3255A>G n.3463A>G | |
| 1 | g.197435165A>T | CA344047028 | CRB1 | c.3302A>T (p.Glu1101Val) c.2183A>T (p.Glu728Val) c.1445A>T (p.Glu482Val) c.2966A>T (p.Glu989Val) c.3230A>T (p.Glu1077Val) c.2129-435A>T (n.2129-435A>T) n.3303A>T n.3511A>T c.2720A>T (p.Glu907Val) c.1745A>T (p.Glu582Val) c.2459A>T (p.Glu820Val) c.3437A>T (p.Glu1146Val) n.3255A>T n.3463A>T | |
| 1 | g.197435166A>C | CA344047029 | CRB1 | c.3303A>C (p.Glu1101Asp) c.2184A>C (p.Glu728Asp) c.1446A>C (p.Glu482Asp) c.2967A>C (p.Glu989Asp) c.3231A>C (p.Glu1077Asp) c.2129-434A>C (n.2129-434A>C) n.3304A>C n.3512A>C c.2721A>C (p.Glu907Asp) c.1746A>C (p.Glu582Asp) c.2460A>C (p.Glu820Asp) c.3438A>C (p.Glu1146Asp) n.3256A>C n.3464A>C | |
| 1 | g.197435166A>G | CA422809125 | CRB1 | c.3303A>G (p.Glu1101=) c.2184A>G (p.Glu728=) c.1446A>G (p.Glu482=) c.2967A>G (p.Glu989=) c.3231A>G (p.Glu1077=) c.2129-434A>G (n.2129-434A>G) n.3304A>G n.3512A>G c.2721A>G (p.Glu907=) c.1746A>G (p.Glu582=) c.2460A>G (p.Glu820=) c.3438A>G (p.Glu1146=) n.3256A>G n.3464A>G | |
| 1 | g.197435166A>T | CA344047030 | CRB1 | c.3303A>T (p.Glu1101Asp) c.2184A>T (p.Glu728Asp) c.1446A>T (p.Glu482Asp) c.2967A>T (p.Glu989Asp) c.3231A>T (p.Glu1077Asp) c.2129-434A>T (n.2129-434A>T) n.3304A>T n.3512A>T c.2721A>T (p.Glu907Asp) c.1746A>T (p.Glu582Asp) c.2460A>T (p.Glu820Asp) c.3438A>T (p.Glu1146Asp) n.3256A>T n.3464A>T | gnomAD v4 |
| 1 | g.197435167A= | CA1218068821 | CRB1 | c.3304A= (p.Ile1102=) c.2185A= (p.Ile729=) c.1447A= (p.Ile483=) c.2968A= (p.Ile990=) c.3232A= (p.Ile1078=) c.2129-433A= (n.2129-433A=) n.3305A= n.3513A= c.2722A= (p.Ile908=) c.1747A= (p.Ile583=) c.2461A= (p.Ile821=) c.3439A= (p.Ile1147=) n.3257A= n.3465A= | |
| 1 | g.197435167A>C | CA344047031 | CRB1 | c.3304A>C (p.Ile1102Leu) c.2185A>C (p.Ile729Leu) c.1447A>C (p.Ile483Leu) c.2968A>C (p.Ile990Leu) c.3232A>C (p.Ile1078Leu) c.2129-433A>C (n.2129-433A>C) n.3305A>C n.3513A>C c.2722A>C (p.Ile908Leu) c.1747A>C (p.Ile583Leu) c.2461A>C (p.Ile821Leu) c.3439A>C (p.Ile1147Leu) n.3257A>C n.3465A>C | |
| 1 | g.197435167A>G | CA1312313 | CRB1 | c.3304A>G (p.Ile1102Val) c.2185A>G (p.Ile729Val) c.1447A>G (p.Ile483Val) c.2968A>G (p.Ile990Val) c.3232A>G (p.Ile1078Val) c.2129-433A>G (n.2129-433A>G) n.3305A>G n.3513A>G c.2722A>G (p.Ile908Val) c.1747A>G (p.Ile583Val) c.2461A>G (p.Ile821Val) c.3439A>G (p.Ile1147Val) n.3257A>G n.3465A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197435167A>T | CA344047032 | CRB1 | c.3304A>T (p.Ile1102Phe) c.2185A>T (p.Ile729Phe) c.1447A>T (p.Ile483Phe) c.2968A>T (p.Ile990Phe) c.3232A>T (p.Ile1078Phe) c.2129-433A>T (n.2129-433A>T) n.3305A>T n.3513A>T c.2722A>T (p.Ile908Phe) c.1747A>T (p.Ile583Phe) c.2461A>T (p.Ile821Phe) c.3439A>T (p.Ile1147Phe) n.3257A>T n.3465A>T | |
| 1 | g.197435168T>A | CA344047033 | CRB1 | c.3305T>A (p.Ile1102Asn) c.2186T>A (p.Ile729Asn) c.1448T>A (p.Ile483Asn) c.2969T>A (p.Ile990Asn) c.3233T>A (p.Ile1078Asn) c.2129-432T>A (n.2129-432T>A) n.3306T>A n.3514T>A c.2723T>A (p.Ile908Asn) c.1748T>A (p.Ile583Asn) c.2462T>A (p.Ile821Asn) c.3440T>A (p.Ile1147Asn) n.3258T>A n.3466T>A | |
| 1 | g.197435168T>C | CA344047034 | CRB1 | c.3305T>C (p.Ile1102Thr) c.2186T>C (p.Ile729Thr) c.1448T>C (p.Ile483Thr) c.2969T>C (p.Ile990Thr) c.3233T>C (p.Ile1078Thr) c.2129-432T>C (n.2129-432T>C) n.3306T>C n.3514T>C c.2723T>C (p.Ile908Thr) c.1748T>C (p.Ile583Thr) c.2462T>C (p.Ile821Thr) c.3440T>C (p.Ile1147Thr) n.3258T>C n.3466T>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197435168T>G | CA344047035 | CRB1 | c.3305T>G (p.Ile1102Ser) c.2186T>G (p.Ile729Ser) c.1448T>G (p.Ile483Ser) c.2969T>G (p.Ile990Ser) c.3233T>G (p.Ile1078Ser) c.2129-432T>G (n.2129-432T>G) n.3306T>G n.3514T>G c.2723T>G (p.Ile908Ser) c.1748T>G (p.Ile583Ser) c.2462T>G (p.Ile821Ser) c.3440T>G (p.Ile1147Ser) n.3258T>G n.3466T>G | |
| 1 | g.197435168T= | CA1218068822 | CRB1 | c.3305T= (p.Ile1102=) c.2186T= (p.Ile729=) c.1448T= (p.Ile483=) c.2969T= (p.Ile990=) c.3233T= (p.Ile1078=) c.2129-432T= (n.2129-432T=) n.3306T= n.3514T= c.2723T= (p.Ile908=) c.1748T= (p.Ile583=) c.2462T= (p.Ile821=) c.3440T= (p.Ile1147=) n.3258T= n.3466T= | |
| 1 | g.197435169C>A | CA422809132 | CRB1 | c.3306C>A (p.Ile1102=) c.2187C>A (p.Ile729=) c.1449C>A (p.Ile483=) c.2970C>A (p.Ile990=) c.3234C>A (p.Ile1078=) c.2129-431C>A (n.2129-431C>A) n.3307C>A n.3515C>A c.2724C>A (p.Ile908=) c.1749C>A (p.Ile583=) c.2463C>A (p.Ile821=) c.3441C>A (p.Ile1147=) n.3259C>A n.3467C>A | ClinVar dbSNP gnomAD v4 |
| 1 | g.197435169C= | CA1144017568 | CRB1 | c.3306C= (p.Ile1102=) c.2187C= (p.Ile729=) c.1449C= (p.Ile483=) c.2970C= (p.Ile990=) c.3234C= (p.Ile1078=) c.2129-431C= (n.2129-431C=) n.3307C= n.3515C= c.2724C= (p.Ile908=) c.1749C= (p.Ile583=) c.2463C= (p.Ile821=) c.3441C= (p.Ile1147=) n.3259C= n.3467C= | |
| 1 | g.197435169C>G | CA344047036 | CRB1 | c.3306C>G (p.Ile1102Met) c.2187C>G (p.Ile729Met) c.1449C>G (p.Ile483Met) c.2970C>G (p.Ile990Met) c.3234C>G (p.Ile1078Met) c.2129-431C>G (n.2129-431C>G) n.3307C>G n.3515C>G c.2724C>G (p.Ile908Met) c.1749C>G (p.Ile583Met) c.2463C>G (p.Ile821Met) c.3441C>G (p.Ile1147Met) n.3259C>G n.3467C>G | |
| 1 | g.197435169C>T | CA1312314 | CRB1 | c.3306C>T (p.Ile1102=) c.2187C>T (p.Ile729=) c.1449C>T (p.Ile483=) c.2970C>T (p.Ile990=) c.3234C>T (p.Ile1078=) c.2129-431C>T (n.2129-431C>T) n.3307C>T n.3515C>T c.2724C>T (p.Ile908=) c.1749C>T (p.Ile583=) c.2463C>T (p.Ile821=) c.3441C>T (p.Ile1147=) n.3259C>T n.3467C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.197435170G>A | CA117711 | CRB1 | c.3307G>A (p.Gly1103Arg) c.2188G>A (p.Gly730Arg) c.1450G>A (p.Gly484Arg) c.2971G>A (p.Gly991Arg) c.3235G>A (p.Gly1079Arg) c.2129-430G>A (n.2129-430G>A) n.3308G>A n.3516G>A c.2725G>A (p.Gly909Arg) c.1750G>A (p.Gly584Arg) c.2464G>A (p.Gly822Arg) c.3442G>A (p.Gly1148Arg) n.3260G>A n.3468G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.197435170G>C | CA344047037 | CRB1 | c.3307G>C (p.Gly1103Arg) c.2188G>C (p.Gly730Arg) c.1450G>C (p.Gly484Arg) c.2971G>C (p.Gly991Arg) c.3235G>C (p.Gly1079Arg) c.2129-430G>C (n.2129-430G>C) n.3308G>C n.3516G>C c.2725G>C (p.Gly909Arg) c.1750G>C (p.Gly584Arg) c.2464G>C (p.Gly822Arg) c.3442G>C (p.Gly1148Arg) n.3260G>C n.3468G>C | COSMIC |
| 1 | g.197435170G= | CA1140762964 | CRB1 | c.3307G= (p.Gly1103=) c.2188G= (p.Gly730=) c.1450G= (p.Gly484=) c.2971G= (p.Gly991=) c.3235G= (p.Gly1079=) c.2129-430G= (n.2129-430G=) n.3308G= n.3516G= c.2725G= (p.Gly909=) c.1750G= (p.Gly584=) c.2464G= (p.Gly822=) c.3442G= (p.Gly1148=) n.3260G= n.3468G= | |
| 1 | g.197435170G>T | CA344047038 | CRB1 | c.3307G>T (p.Gly1103Ter) c.2188G>T (p.Gly730Ter) c.1450G>T (p.Gly484Ter) c.2971G>T (p.Gly991Ter) c.3235G>T (p.Gly1079Ter) c.2129-430G>T (n.2129-430G>T) n.3308G>T n.3516G>T c.2725G>T (p.Gly909Ter) c.1750G>T (p.Gly584Ter) c.2464G>T (p.Gly822Ter) c.3442G>T (p.Gly1148Ter) n.3260G>T n.3468G>T | |
| 1 | g.197435171G>A | CA344047039 | CRB1 | c.3308G>A (p.Gly1103Glu) c.2189G>A (p.Gly730Glu) c.1451G>A (p.Gly484Glu) c.2972G>A (p.Gly991Glu) c.3236G>A (p.Gly1079Glu) c.2129-429G>A (n.2129-429G>A) n.3309G>A n.3517G>A c.2726G>A (p.Gly909Glu) c.1751G>A (p.Gly584Glu) c.2465G>A (p.Gly822Glu) c.3443G>A (p.Gly1148Glu) n.3261G>A n.3469G>A | |
| 1 | g.197435171G>C | CA344047040 | CRB1 | c.3308G>C (p.Gly1103Ala) c.2189G>C (p.Gly730Ala) c.1451G>C (p.Gly484Ala) c.2972G>C (p.Gly991Ala) c.3236G>C (p.Gly1079Ala) c.2129-429G>C (n.2129-429G>C) n.3309G>C n.3517G>C c.2726G>C (p.Gly909Ala) c.1751G>C (p.Gly584Ala) c.2465G>C (p.Gly822Ala) c.3443G>C (p.Gly1148Ala) n.3261G>C n.3469G>C | |
| 1 | g.197435171G= | CA1218068823 | CRB1 | c.3308G= (p.Gly1103=) c.2189G= (p.Gly730=) c.1451G= (p.Gly484=) c.2972G= (p.Gly991=) c.3236G= (p.Gly1079=) c.2129-429G= (n.2129-429G=) n.3309G= n.3517G= c.2726G= (p.Gly909=) c.1751G= (p.Gly584=) c.2465G= (p.Gly822=) c.3443G= (p.Gly1148=) n.3261G= n.3469G= | |
| 1 | g.197435171G>T | CA344047041 | CRB1 | c.3308G>T (p.Gly1103Val) c.2189G>T (p.Gly730Val) c.1451G>T (p.Gly484Val) c.2972G>T (p.Gly991Val) c.3236G>T (p.Gly1079Val) c.2129-429G>T (n.2129-429G>T) n.3309G>T n.3517G>T c.2726G>T (p.Gly909Val) c.1751G>T (p.Gly584Val) c.2465G>T (p.Gly822Val) c.3443G>T (p.Gly1148Val) n.3261G>T n.3469G>T | ClinVar dbSNP |
| 1 | g.197435172A>C | CA422809135 | CRB1 | c.3309A>C (p.Gly1103=) c.2190A>C (p.Gly730=) c.1452A>C (p.Gly484=) c.2973A>C (p.Gly991=) c.3237A>C (p.Gly1079=) c.2129-428A>C (n.2129-428A>C) n.3310A>C n.3518A>C c.2727A>C (p.Gly909=) c.1752A>C (p.Gly584=) c.2466A>C (p.Gly822=) c.3444A>C (p.Gly1148=) n.3262A>C n.3470A>C | |
| 1 | g.197435172A>G | CA422809137 | CRB1 | c.3309A>G (p.Gly1103=) c.2190A>G (p.Gly730=) c.1452A>G (p.Gly484=) c.2973A>G (p.Gly991=) c.3237A>G (p.Gly1079=) c.2129-428A>G (n.2129-428A>G) n.3310A>G n.3518A>G c.2727A>G (p.Gly909=) c.1752A>G (p.Gly584=) c.2466A>G (p.Gly822=) c.3444A>G (p.Gly1148=) n.3262A>G n.3470A>G | ClinVar |
| 1 | g.197435172A>T | CA422809136 | CRB1 | c.3309A>T (p.Gly1103=) c.2190A>T (p.Gly730=) c.1452A>T (p.Gly484=) c.2973A>T (p.Gly991=) c.3237A>T (p.Gly1079=) c.2129-428A>T (n.2129-428A>T) n.3310A>T n.3518A>T c.2727A>T (p.Gly909=) c.1752A>T (p.Gly584=) c.2466A>T (p.Gly822=) c.3444A>T (p.Gly1148=) n.3262A>T n.3470A>T | |
| 1 | g.197435173G>A | CA35907397 | CRB1 | c.3310G>A (p.Gly1104Ser) c.2191G>A (p.Gly731Ser) c.1453G>A (p.Gly485Ser) c.2974G>A (p.Gly992Ser) c.3238G>A (p.Gly1080Ser) c.2129-427G>A (n.2129-427G>A) n.3311G>A n.3519G>A c.2728G>A (p.Gly910Ser) c.1753G>A (p.Gly585Ser) c.2467G>A (p.Gly823Ser) c.3445G>A (p.Gly1149Ser) n.3263G>A n.3471G>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197435173G>C | CA344047042 | CRB1 | c.3310G>C (p.Gly1104Arg) c.2191G>C (p.Gly731Arg) c.1453G>C (p.Gly485Arg) c.2974G>C (p.Gly992Arg) c.3238G>C (p.Gly1080Arg) c.2129-427G>C (n.2129-427G>C) n.3311G>C n.3519G>C c.2728G>C (p.Gly910Arg) c.1753G>C (p.Gly585Arg) c.2467G>C (p.Gly823Arg) c.3445G>C (p.Gly1149Arg) n.3263G>C n.3471G>C | |
| 1 | g.197435173G= | CA1218068824 | CRB1 | c.3310G= (p.Gly1104=) c.2191G= (p.Gly731=) c.1453G= (p.Gly485=) c.2974G= (p.Gly992=) c.3238G= (p.Gly1080=) c.2129-427G= (n.2129-427G=) n.3311G= n.3519G= c.2728G= (p.Gly910=) c.1753G= (p.Gly585=) c.2467G= (p.Gly823=) c.3445G= (p.Gly1149=) n.3263G= n.3471G= | |
| 1 | g.197435173G>T | CA344047043 | CRB1 | c.3310G>T (p.Gly1104Cys) c.2191G>T (p.Gly731Cys) c.1453G>T (p.Gly485Cys) c.2974G>T (p.Gly992Cys) c.3238G>T (p.Gly1080Cys) c.2129-427G>T (n.2129-427G>T) n.3311G>T n.3519G>T c.2728G>T (p.Gly910Cys) c.1753G>T (p.Gly585Cys) c.2467G>T (p.Gly823Cys) c.3445G>T (p.Gly1149Cys) n.3263G>T n.3471G>T | |
| 1 | g.197435174G>A | CA344047044 | CRB1 | c.3311G>A (p.Gly1104Asp) c.2192G>A (p.Gly731Asp) c.1454G>A (p.Gly485Asp) c.2975G>A (p.Gly992Asp) c.3239G>A (p.Gly1080Asp) c.2129-426G>A (n.2129-426G>A) n.3312G>A n.3520G>A c.2729G>A (p.Gly910Asp) c.1754G>A (p.Gly585Asp) c.2468G>A (p.Gly823Asp) c.3446G>A (p.Gly1149Asp) n.3264G>A n.3472G>A | dbSNP gnomAD v4 |
| 1 | g.197435174G>C | CA344047045 | CRB1 | c.3311G>C (p.Gly1104Ala) c.2192G>C (p.Gly731Ala) c.1454G>C (p.Gly485Ala) c.2975G>C (p.Gly992Ala) c.3239G>C (p.Gly1080Ala) c.2129-426G>C (n.2129-426G>C) n.3312G>C n.3520G>C c.2729G>C (p.Gly910Ala) c.1754G>C (p.Gly585Ala) c.2468G>C (p.Gly823Ala) c.3446G>C (p.Gly1149Ala) n.3264G>C n.3472G>C | |
| 1 | g.197435174G= | CA1218068825 | CRB1 | c.3311G= (p.Gly1104=) c.2192G= (p.Gly731=) c.1454G= (p.Gly485=) c.2975G= (p.Gly992=) c.3239G= (p.Gly1080=) c.2129-426G= (n.2129-426G=) n.3312G= n.3520G= c.2729G= (p.Gly910=) c.1754G= (p.Gly585=) c.2468G= (p.Gly823=) c.3446G= (p.Gly1149=) n.3264G= n.3472G= | |
| 1 | g.197435174G>T | CA344047046 | CRB1 | c.3311G>T (p.Gly1104Val) c.2192G>T (p.Gly731Val) c.1454G>T (p.Gly485Val) c.2975G>T (p.Gly992Val) c.3239G>T (p.Gly1080Val) c.2129-426G>T (n.2129-426G>T) n.3312G>T n.3520G>T c.2729G>T (p.Gly910Val) c.1754G>T (p.Gly585Val) c.2468G>T (p.Gly823Val) c.3446G>T (p.Gly1149Val) n.3264G>T n.3472G>T | |
| 1 | g.197435175C>A | CA422809143 | CRB1 | c.3312C>A (p.Gly1104=) c.2193C>A (p.Gly731=) c.1455C>A (p.Gly485=) c.2976C>A (p.Gly992=) c.3240C>A (p.Gly1080=) c.2129-425C>A (n.2129-425C>A) n.3313C>A n.3521C>A c.2730C>A (p.Gly910=) c.1755C>A (p.Gly585=) c.2469C>A (p.Gly823=) c.3447C>A (p.Gly1149=) n.3265C>A n.3473C>A |