| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197434970A= | CA1148378936 | CRB1 | c.3107A= (p.Glu1036=) c.1988A= (p.Glu663=) c.1250A= (p.Glu417=) c.2771A= (p.Glu924=) c.3035A= (p.Glu1012=) c.2129-630A= (n.2129-630A=) n.3108A= n.3316A= c.2525A= (p.Glu842=) c.1550A= (p.Glu517=) c.2264A= (p.Glu755=) c.3242A= (p.Glu1081=) n.3060A= n.3268A= | |
| 1 | g.197434970A>C | CA1312278 | CRB1 | c.3107A>C (p.Glu1036Ala) c.1988A>C (p.Glu663Ala) c.1250A>C (p.Glu417Ala) c.2771A>C (p.Glu924Ala) c.3035A>C (p.Glu1012Ala) c.2129-630A>C (n.2129-630A>C) n.3108A>C n.3316A>C c.2525A>C (p.Glu842Ala) c.1550A>C (p.Glu517Ala) c.2264A>C (p.Glu755Ala) c.3242A>C (p.Glu1081Ala) n.3060A>C n.3268A>C | dbSNP ExAC gnomAD v2 |
| 1 | g.197434970A>G | CA344045628 | CRB1 | c.3107A>G (p.Glu1036Gly) c.1988A>G (p.Glu663Gly) c.1250A>G (p.Glu417Gly) c.2771A>G (p.Glu924Gly) c.3035A>G (p.Glu1012Gly) c.2129-630A>G (n.2129-630A>G) n.3108A>G n.3316A>G c.2525A>G (p.Glu842Gly) c.1550A>G (p.Glu517Gly) c.2264A>G (p.Glu755Gly) c.3242A>G (p.Glu1081Gly) n.3060A>G n.3268A>G | gnomAD v4 |
| 1 | g.197434970A>T | CA344045624 | CRB1 | c.3107A>T (p.Glu1036Val) c.1988A>T (p.Glu663Val) c.1250A>T (p.Glu417Val) c.2771A>T (p.Glu924Val) c.3035A>T (p.Glu1012Val) c.2129-630A>T (n.2129-630A>T) n.3108A>T n.3316A>T c.2525A>T (p.Glu842Val) c.1550A>T (p.Glu517Val) c.2264A>T (p.Glu755Val) c.3242A>T (p.Glu1081Val) n.3060A>T n.3268A>T | |
| 1 | g.197434971A>C | CA344045630 | CRB1 | c.3108A>C (p.Glu1036Asp) c.1989A>C (p.Glu663Asp) c.1251A>C (p.Glu417Asp) c.2772A>C (p.Glu924Asp) c.3036A>C (p.Glu1012Asp) c.2129-629A>C (n.2129-629A>C) n.3109A>C n.3317A>C c.2526A>C (p.Glu842Asp) c.1551A>C (p.Glu517Asp) c.2265A>C (p.Glu755Asp) c.3243A>C (p.Glu1081Asp) n.3061A>C n.3269A>C | |
| 1 | g.197434971A>G | CA422808808 | CRB1 | c.3108A>G (p.Glu1036=) c.1989A>G (p.Glu663=) c.1251A>G (p.Glu417=) c.2772A>G (p.Glu924=) c.3036A>G (p.Glu1012=) c.2129-629A>G (n.2129-629A>G) n.3109A>G n.3317A>G c.2526A>G (p.Glu842=) c.1551A>G (p.Glu517=) c.2265A>G (p.Glu755=) c.3243A>G (p.Glu1081=) n.3061A>G n.3269A>G | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.197434971A>T | CA344045634 | CRB1 | c.3108A>T (p.Glu1036Asp) c.1989A>T (p.Glu663Asp) c.1251A>T (p.Glu417Asp) c.2772A>T (p.Glu924Asp) c.3036A>T (p.Glu1012Asp) c.2129-629A>T (n.2129-629A>T) n.3109A>T n.3317A>T c.2526A>T (p.Glu842Asp) c.1551A>T (p.Glu517Asp) c.2265A>T (p.Glu755Asp) c.3243A>T (p.Glu1081Asp) n.3061A>T n.3269A>T | |
| 1 | g.197434972G>A | CA344045650 | CRB1 | c.3109G>A (p.Val1037Met) c.1990G>A (p.Val664Met) c.1252G>A (p.Val418Met) c.2773G>A (p.Val925Met) c.3037G>A (p.Val1013Met) c.2129-628G>A (n.2129-628G>A) n.3110G>A n.3318G>A c.2527G>A (p.Val843Met) c.1552G>A (p.Val518Met) c.2266G>A (p.Val756Met) c.3244G>A (p.Val1082Met) n.3062G>A n.3270G>A | |
| 1 | g.197434972G>C | CA344045651 | CRB1 | c.3109G>C (p.Val1037Leu) c.1990G>C (p.Val664Leu) c.1252G>C (p.Val418Leu) c.2773G>C (p.Val925Leu) c.3037G>C (p.Val1013Leu) c.2129-628G>C (n.2129-628G>C) n.3110G>C n.3318G>C c.2527G>C (p.Val843Leu) c.1552G>C (p.Val518Leu) c.2266G>C (p.Val756Leu) c.3244G>C (p.Val1082Leu) n.3062G>C n.3270G>C | |
| 1 | g.197434972G= | CA1218068739 | CRB1 | c.3109G= (p.Val1037=) c.1990G= (p.Val664=) c.1252G= (p.Val418=) c.2773G= (p.Val925=) c.3037G= (p.Val1013=) c.2129-628G= (n.2129-628G=) n.3110G= n.3318G= c.2527G= (p.Val843=) c.1552G= (p.Val518=) c.2266G= (p.Val756=) c.3244G= (p.Val1082=) n.3062G= n.3270G= | |
| 1 | g.197434972G>T | CA344045655 | CRB1 | c.3109G>T (p.Val1037Leu) c.1990G>T (p.Val664Leu) c.1252G>T (p.Val418Leu) c.2773G>T (p.Val925Leu) c.3037G>T (p.Val1013Leu) c.2129-628G>T (n.2129-628G>T) n.3110G>T n.3318G>T c.2527G>T (p.Val843Leu) c.1552G>T (p.Val518Leu) c.2266G>T (p.Val756Leu) c.3244G>T (p.Val1082Leu) n.3062G>T n.3270G>T | |
| 1 | g.197434973T>A | CA344045658 | CRB1 | c.3110T>A (p.Val1037Glu) c.1991T>A (p.Val664Glu) c.1253T>A (p.Val418Glu) c.2774T>A (p.Val925Glu) c.3038T>A (p.Val1013Glu) c.2129-627T>A (n.2129-627T>A) n.3111T>A n.3319T>A c.2528T>A (p.Val843Glu) c.1553T>A (p.Val518Glu) c.2267T>A (p.Val756Glu) c.3245T>A (p.Val1082Glu) n.3063T>A n.3271T>A | |
| 1 | g.197434973T>C | CA35907029 | CRB1 | c.3110T>C (p.Val1037Ala) c.1991T>C (p.Val664Ala) c.1253T>C (p.Val418Ala) c.2774T>C (p.Val925Ala) c.3038T>C (p.Val1013Ala) c.2129-627T>C (n.2129-627T>C) n.3111T>C n.3319T>C c.2528T>C (p.Val843Ala) c.1553T>C (p.Val518Ala) c.2267T>C (p.Val756Ala) c.3245T>C (p.Val1082Ala) n.3063T>C n.3271T>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197434973T>G | CA344045676 | CRB1 | c.3110T>G (p.Val1037Gly) c.1991T>G (p.Val664Gly) c.1253T>G (p.Val418Gly) c.2774T>G (p.Val925Gly) c.3038T>G (p.Val1013Gly) c.2129-627T>G (n.2129-627T>G) n.3111T>G n.3319T>G c.2528T>G (p.Val843Gly) c.1553T>G (p.Val518Gly) c.2267T>G (p.Val756Gly) c.3245T>G (p.Val1082Gly) n.3063T>G n.3271T>G | |
| 1 | g.197434973T= | CA1218068740 | CRB1 | c.3110T= (p.Val1037=) c.1991T= (p.Val664=) c.1253T= (p.Val418=) c.2774T= (p.Val925=) c.3038T= (p.Val1013=) c.2129-627T= (n.2129-627T=) n.3111T= n.3319T= c.2528T= (p.Val843=) c.1553T= (p.Val518=) c.2267T= (p.Val756=) c.3245T= (p.Val1082=) n.3063T= n.3271T= | |
| 1 | g.197434973_197435006dup | CA1139656480 | CRB1 | c.3110_3143dup (p.Ser1049AspfsTer40) c.1991_2024dup (p.Ser676AspfsTer40) c.1253_1286dup (p.Ser430AspfsTer40) c.2774_2807dup (p.Ser937AspfsTer40) c.3038_3071dup (p.Ser1025AspfsTer40) c.2129-627_2129-594dup (n.2129-627_2129-594dup) n.3111_3144dup n.3319_3352dup c.2528_2561dup (p.Ser855AspfsTer40) c.1553_1586dup (p.Ser530AspfsTer40) c.2267_2300dup (p.Ser768AspfsTer40) c.3245_3278dup (p.Ser1094AspfsTer40) n.3063_3096dup n.3271_3304dup | ClinVar dbSNP gnomAD v4 |
| 1 | g.197434974G>A | CA422808813 | CRB1 | c.3111G>A (p.Val1037=) c.1992G>A (p.Val664=) c.1254G>A (p.Val418=) c.2775G>A (p.Val925=) c.3039G>A (p.Val1013=) c.2129-626G>A (n.2129-626G>A) n.3112G>A n.3320G>A c.2529G>A (p.Val843=) c.1554G>A (p.Val518=) c.2268G>A (p.Val756=) c.3246G>A (p.Val1082=) n.3064G>A n.3272G>A | |
| 1 | g.197434974G>C | CA422808814 | CRB1 | c.3111G>C (p.Val1037=) c.1992G>C (p.Val664=) c.1254G>C (p.Val418=) c.2775G>C (p.Val925=) c.3039G>C (p.Val1013=) c.2129-626G>C (n.2129-626G>C) n.3112G>C n.3320G>C c.2529G>C (p.Val843=) c.1554G>C (p.Val518=) c.2268G>C (p.Val756=) c.3246G>C (p.Val1082=) n.3064G>C n.3272G>C | ClinVar dbSNP |
| 1 | g.197434974G= | CA1218068741 | CRB1 | c.3111G= (p.Val1037=) c.1992G= (p.Val664=) c.1254G= (p.Val418=) c.2775G= (p.Val925=) c.3039G= (p.Val1013=) c.2129-626G= (n.2129-626G=) n.3112G= n.3320G= c.2529G= (p.Val843=) c.1554G= (p.Val518=) c.2268G= (p.Val756=) c.3246G= (p.Val1082=) n.3064G= n.3272G= | |
| 1 | g.197434974G>T | CA422808815 | CRB1 | c.3111G>T (p.Val1037=) c.1992G>T (p.Val664=) c.1254G>T (p.Val418=) c.2775G>T (p.Val925=) c.3039G>T (p.Val1013=) c.2129-626G>T (n.2129-626G>T) n.3112G>T n.3320G>T c.2529G>T (p.Val843=) c.1554G>T (p.Val518=) c.2268G>T (p.Val756=) c.3246G>T (p.Val1082=) n.3064G>T n.3272G>T | |
| 1 | g.197434975A>C | CA344045678 | CRB1 | c.3112A>C (p.Thr1038Pro) c.1993A>C (p.Thr665Pro) c.1255A>C (p.Thr419Pro) c.2776A>C (p.Thr926Pro) c.3040A>C (p.Thr1014Pro) c.2129-625A>C (n.2129-625A>C) n.3113A>C n.3321A>C c.2530A>C (p.Thr844Pro) c.1555A>C (p.Thr519Pro) c.2269A>C (p.Thr757Pro) c.3247A>C (p.Thr1083Pro) n.3065A>C n.3273A>C | |
| 1 | g.197434975A>G | CA344045680 | CRB1 | c.3112A>G (p.Thr1038Ala) c.1993A>G (p.Thr665Ala) c.1255A>G (p.Thr419Ala) c.2776A>G (p.Thr926Ala) c.3040A>G (p.Thr1014Ala) c.2129-625A>G (n.2129-625A>G) n.3113A>G n.3321A>G c.2530A>G (p.Thr844Ala) c.1555A>G (p.Thr519Ala) c.2269A>G (p.Thr757Ala) c.3247A>G (p.Thr1083Ala) n.3065A>G n.3273A>G | |
| 1 | g.197434975A>T | CA344045683 | CRB1 | c.3112A>T (p.Thr1038Ser) c.1993A>T (p.Thr665Ser) c.1255A>T (p.Thr419Ser) c.2776A>T (p.Thr926Ser) c.3040A>T (p.Thr1014Ser) c.2129-625A>T (n.2129-625A>T) n.3113A>T n.3321A>T c.2530A>T (p.Thr844Ser) c.1555A>T (p.Thr519Ser) c.2269A>T (p.Thr757Ser) c.3247A>T (p.Thr1083Ser) n.3065A>T n.3273A>T | |
| 1 | g.197434975_197434976dup | CA2580061934 | CRB1 | c.3112_3113dup (p.Leu1039ProfsTer4) c.1993_1994dup (p.Leu666ProfsTer4) c.1255_1256dup (p.Leu420ProfsTer4) c.2776_2777dup (p.Leu927ProfsTer4) c.3040_3041dup (p.Leu1015ProfsTer4) c.2129-625_2129-624dup (n.2129-625_2129-624dup) n.3113_3114dup n.3321_3322dup c.2530_2531dup (p.Leu845ProfsTer4) c.1555_1556dup (p.Leu520ProfsTer4) c.2269_2270dup (p.Leu758ProfsTer4) c.3247_3248dup (p.Leu1084ProfsTer4) n.3065_3066dup n.3273_3274dup | ClinVar gnomAD v4 |
| 1 | g.197434976C>A | CA344045689 | CRB1 | c.3113C>A (p.Thr1038Asn) c.1994C>A (p.Thr665Asn) c.1256C>A (p.Thr419Asn) c.2777C>A (p.Thr926Asn) c.3041C>A (p.Thr1014Asn) c.2129-624C>A (n.2129-624C>A) n.3114C>A n.3322C>A c.2531C>A (p.Thr844Asn) c.1556C>A (p.Thr519Asn) c.2270C>A (p.Thr757Asn) c.3248C>A (p.Thr1083Asn) n.3066C>A n.3274C>A | |
| 1 | g.197434976C>G | CA344045691 | CRB1 | c.3113C>G (p.Thr1038Ser) c.1994C>G (p.Thr665Ser) c.1256C>G (p.Thr419Ser) c.2777C>G (p.Thr926Ser) c.3041C>G (p.Thr1014Ser) c.2129-624C>G (n.2129-624C>G) n.3114C>G n.3322C>G c.2531C>G (p.Thr844Ser) c.1556C>G (p.Thr519Ser) c.2270C>G (p.Thr757Ser) c.3248C>G (p.Thr1083Ser) n.3066C>G n.3274C>G | gnomAD v4 |
| 1 | g.197434976C>T | CA344045693 | CRB1 | c.3113C>T (p.Thr1038Ile) c.1994C>T (p.Thr665Ile) c.1256C>T (p.Thr419Ile) c.2777C>T (p.Thr926Ile) c.3041C>T (p.Thr1014Ile) c.2129-624C>T (n.2129-624C>T) n.3114C>T n.3322C>T c.2531C>T (p.Thr844Ile) c.1556C>T (p.Thr519Ile) c.2270C>T (p.Thr757Ile) c.3248C>T (p.Thr1083Ile) n.3066C>T n.3274C>T | COSMIC COSMIC |
| 1 | g.197434977C>A | CA422808820 | CRB1 | c.3114C>A (p.Thr1038=) c.1995C>A (p.Thr665=) c.1257C>A (p.Thr419=) c.2778C>A (p.Thr926=) c.3042C>A (p.Thr1014=) c.2129-623C>A (n.2129-623C>A) n.3115C>A n.3323C>A c.2532C>A (p.Thr844=) c.1557C>A (p.Thr519=) c.2271C>A (p.Thr757=) c.3249C>A (p.Thr1083=) n.3067C>A n.3275C>A | gnomAD v4 |
| 1 | g.197434977C= | CA1218068742 | CRB1 | c.3114C= (p.Thr1038=) c.1995C= (p.Thr665=) c.1257C= (p.Thr419=) c.2778C= (p.Thr926=) c.3042C= (p.Thr1014=) c.2129-623C= (n.2129-623C=) n.3115C= n.3323C= c.2532C= (p.Thr844=) c.1557C= (p.Thr519=) c.2271C= (p.Thr757=) c.3249C= (p.Thr1083=) n.3067C= n.3275C= | |
| 1 | g.197434977C>G | CA422808821 | CRB1 | c.3114C>G (p.Thr1038=) c.1995C>G (p.Thr665=) c.1257C>G (p.Thr419=) c.2778C>G (p.Thr926=) c.3042C>G (p.Thr1014=) c.2129-623C>G (n.2129-623C>G) n.3115C>G n.3323C>G c.2532C>G (p.Thr844=) c.1557C>G (p.Thr519=) c.2271C>G (p.Thr757=) c.3249C>G (p.Thr1083=) n.3067C>G n.3275C>G | |
| 1 | g.197434977C>T | CA422808822 | CRB1 | c.3114C>T (p.Thr1038=) c.1995C>T (p.Thr665=) c.1257C>T (p.Thr419=) c.2778C>T (p.Thr926=) c.3042C>T (p.Thr1014=) c.2129-623C>T (n.2129-623C>T) n.3115C>T n.3323C>T c.2532C>T (p.Thr844=) c.1557C>T (p.Thr519=) c.2271C>T (p.Thr757=) c.3249C>T (p.Thr1083=) n.3067C>T n.3275C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197434978C>A | CA344045708 | CRB1 | c.3115C>A (p.Leu1039Ile) c.1996C>A (p.Leu666Ile) c.1258C>A (p.Leu420Ile) c.2779C>A (p.Leu927Ile) c.3043C>A (p.Leu1015Ile) c.2129-622C>A (n.2129-622C>A) n.3116C>A n.3324C>A c.2533C>A (p.Leu845Ile) c.1558C>A (p.Leu520Ile) c.2272C>A (p.Leu758Ile) c.3250C>A (p.Leu1084Ile) n.3068C>A n.3276C>A | |
| 1 | g.197434978C= | CA1218068743 | CRB1 | c.3115C= (p.Leu1039=) c.1996C= (p.Leu666=) c.1258C= (p.Leu420=) c.2779C= (p.Leu927=) c.3043C= (p.Leu1015=) c.2129-622C= (n.2129-622C=) n.3116C= n.3324C= c.2533C= (p.Leu845=) c.1558C= (p.Leu520=) c.2272C= (p.Leu758=) c.3250C= (p.Leu1084=) n.3068C= n.3276C= | |
| 1 | g.197434978C>G | CA1312279 | CRB1 | c.3115C>G (p.Leu1039Val) c.1996C>G (p.Leu666Val) c.1258C>G (p.Leu420Val) c.2779C>G (p.Leu927Val) c.3043C>G (p.Leu1015Val) c.2129-622C>G (n.2129-622C>G) n.3116C>G n.3324C>G c.2533C>G (p.Leu845Val) c.1558C>G (p.Leu520Val) c.2272C>G (p.Leu758Val) c.3250C>G (p.Leu1084Val) n.3068C>G n.3276C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197434978C>T | CA344045704 | CRB1 | c.3115C>T (p.Leu1039Phe) c.1996C>T (p.Leu666Phe) c.1258C>T (p.Leu420Phe) c.2779C>T (p.Leu927Phe) c.3043C>T (p.Leu1015Phe) c.2129-622C>T (n.2129-622C>T) n.3116C>T n.3324C>T c.2533C>T (p.Leu845Phe) c.1558C>T (p.Leu520Phe) c.2272C>T (p.Leu758Phe) c.3250C>T (p.Leu1084Phe) n.3068C>T n.3276C>T | |
| 1 | g.197434979T>A | CA344045712 | CRB1 | c.3116T>A (p.Leu1039His) c.1997T>A (p.Leu666His) c.1259T>A (p.Leu420His) c.2780T>A (p.Leu927His) c.3044T>A (p.Leu1015His) c.2129-621T>A (n.2129-621T>A) n.3117T>A n.3325T>A c.2534T>A (p.Leu845His) c.1559T>A (p.Leu520His) c.2273T>A (p.Leu758His) c.3251T>A (p.Leu1084His) n.3069T>A n.3277T>A | |
| 1 | g.197434979T>C | CA344045717 | CRB1 | c.3116T>C (p.Leu1039Pro) c.1997T>C (p.Leu666Pro) c.1259T>C (p.Leu420Pro) c.2780T>C (p.Leu927Pro) c.3044T>C (p.Leu1015Pro) c.2129-621T>C (n.2129-621T>C) n.3117T>C n.3325T>C c.2534T>C (p.Leu845Pro) c.1559T>C (p.Leu520Pro) c.2273T>C (p.Leu758Pro) c.3251T>C (p.Leu1084Pro) n.3069T>C n.3277T>C | |
| 1 | g.197434979T>G | CA344045721 | CRB1 | c.3116T>G (p.Leu1039Arg) c.1997T>G (p.Leu666Arg) c.1259T>G (p.Leu420Arg) c.2780T>G (p.Leu927Arg) c.3044T>G (p.Leu1015Arg) c.2129-621T>G (n.2129-621T>G) n.3117T>G n.3325T>G c.2534T>G (p.Leu845Arg) c.1559T>G (p.Leu520Arg) c.2273T>G (p.Leu758Arg) c.3251T>G (p.Leu1084Arg) n.3069T>G n.3277T>G | |
| 1 | g.197434981del | CA422808827 | CRB1 | c.3118del (p.Ser1040ProfsTer2) c.1999del (p.Ser667ProfsTer2) c.1261del (p.Ser421ProfsTer2) c.2782del (p.Ser928ProfsTer2) c.3046del (p.Ser1016ProfsTer2) c.2129-619del (n.2129-619del) n.3119del n.3327del c.2536del (p.Ser846ProfsTer2) c.1561del (p.Ser521ProfsTer2) c.2275del (p.Ser759ProfsTer2) c.3253del (p.Ser1085ProfsTer2) n.3071del n.3279del | COSMIC |
| 1 | g.197434980T>A | CA422808829 | CRB1 | c.3117T>A (p.Leu1039=) c.1998T>A (p.Leu666=) c.1260T>A (p.Leu420=) c.2781T>A (p.Leu927=) c.3045T>A (p.Leu1015=) c.2129-620T>A (n.2129-620T>A) n.3118T>A n.3326T>A c.2535T>A (p.Leu845=) c.1560T>A (p.Leu520=) c.2274T>A (p.Leu758=) c.3252T>A (p.Leu1084=) n.3070T>A n.3278T>A | COSMIC COSMIC |
| 1 | g.197434980T>C | CA422808831 | CRB1 | c.3117T>C (p.Leu1039=) c.1998T>C (p.Leu666=) c.1260T>C (p.Leu420=) c.2781T>C (p.Leu927=) c.3045T>C (p.Leu1015=) c.2129-620T>C (n.2129-620T>C) n.3118T>C n.3326T>C c.2535T>C (p.Leu845=) c.1560T>C (p.Leu520=) c.2274T>C (p.Leu758=) c.3252T>C (p.Leu1084=) n.3070T>C n.3278T>C | |
| 1 | g.197434980T>G | CA422808832 | CRB1 | c.3117T>G (p.Leu1039=) c.1998T>G (p.Leu666=) c.1260T>G (p.Leu420=) c.2781T>G (p.Leu927=) c.3045T>G (p.Leu1015=) c.2129-620T>G (n.2129-620T>G) n.3118T>G n.3326T>G c.2535T>G (p.Leu845=) c.1560T>G (p.Leu520=) c.2274T>G (p.Leu758=) c.3252T>G (p.Leu1084=) n.3070T>G n.3278T>G | |
| 1 | g.197434981T>A | CA344045727 | CRB1 | c.3118T>A (p.Ser1040Thr) c.1999T>A (p.Ser667Thr) c.1261T>A (p.Ser421Thr) c.2782T>A (p.Ser928Thr) c.3046T>A (p.Ser1016Thr) c.2129-619T>A (n.2129-619T>A) n.3119T>A n.3327T>A c.2536T>A (p.Ser846Thr) c.1561T>A (p.Ser521Thr) c.2275T>A (p.Ser759Thr) c.3253T>A (p.Ser1085Thr) n.3071T>A n.3279T>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197434981T>C | CA344045732 | CRB1 | c.3118T>C (p.Ser1040Pro) c.1999T>C (p.Ser667Pro) c.1261T>C (p.Ser421Pro) c.2782T>C (p.Ser928Pro) c.3046T>C (p.Ser1016Pro) c.2129-619T>C (n.2129-619T>C) n.3119T>C n.3327T>C c.2536T>C (p.Ser846Pro) c.1561T>C (p.Ser521Pro) c.2275T>C (p.Ser759Pro) c.3253T>C (p.Ser1085Pro) n.3071T>C n.3279T>C | |
| 1 | g.197434981T>G | CA344045735 | CRB1 | c.3118T>G (p.Ser1040Ala) c.1999T>G (p.Ser667Ala) c.1261T>G (p.Ser421Ala) c.2782T>G (p.Ser928Ala) c.3046T>G (p.Ser1016Ala) c.2129-619T>G (n.2129-619T>G) n.3119T>G n.3327T>G c.2536T>G (p.Ser846Ala) c.1561T>G (p.Ser521Ala) c.2275T>G (p.Ser759Ala) c.3253T>G (p.Ser1085Ala) n.3071T>G n.3279T>G | |
| 1 | g.197434981T= | CA1218068744 | CRB1 | c.3118T= (p.Ser1040=) c.1999T= (p.Ser667=) c.1261T= (p.Ser421=) c.2782T= (p.Ser928=) c.3046T= (p.Ser1016=) c.2129-619T= (n.2129-619T=) n.3119T= n.3327T= c.2536T= (p.Ser846=) c.1561T= (p.Ser521=) c.2275T= (p.Ser759=) c.3253T= (p.Ser1085=) n.3071T= n.3279T= | |
| 1 | g.197434982C>A | CA344045743 | CRB1 | c.3119C>A (p.Ser1040Tyr) c.2000C>A (p.Ser667Tyr) c.1262C>A (p.Ser421Tyr) c.2783C>A (p.Ser928Tyr) c.3047C>A (p.Ser1016Tyr) c.2129-618C>A (n.2129-618C>A) n.3120C>A n.3328C>A c.2537C>A (p.Ser846Tyr) c.1562C>A (p.Ser521Tyr) c.2276C>A (p.Ser759Tyr) c.3254C>A (p.Ser1085Tyr) n.3072C>A n.3280C>A | |
| 1 | g.197434982C= | CA1218068745 | CRB1 | c.3119C= (p.Ser1040=) c.2000C= (p.Ser667=) c.1262C= (p.Ser421=) c.2783C= (p.Ser928=) c.3047C= (p.Ser1016=) c.2129-618C= (n.2129-618C=) n.3120C= n.3328C= c.2537C= (p.Ser846=) c.1562C= (p.Ser521=) c.2276C= (p.Ser759=) c.3254C= (p.Ser1085=) n.3072C= n.3280C= | |
| 1 | g.197434982C>G | CA344045747 | CRB1 | c.3119C>G (p.Ser1040Cys) c.2000C>G (p.Ser667Cys) c.1262C>G (p.Ser421Cys) c.2783C>G (p.Ser928Cys) c.3047C>G (p.Ser1016Cys) c.2129-618C>G (n.2129-618C>G) n.3120C>G n.3328C>G c.2537C>G (p.Ser846Cys) c.1562C>G (p.Ser521Cys) c.2276C>G (p.Ser759Cys) c.3254C>G (p.Ser1085Cys) n.3072C>G n.3280C>G | |
| 1 | g.197434982C>T | CA344045751 | CRB1 | c.3119C>T (p.Ser1040Phe) c.2000C>T (p.Ser667Phe) c.1262C>T (p.Ser421Phe) c.2783C>T (p.Ser928Phe) c.3047C>T (p.Ser1016Phe) c.2129-618C>T (n.2129-618C>T) n.3120C>T n.3328C>T c.2537C>T (p.Ser846Phe) c.1562C>T (p.Ser521Phe) c.2276C>T (p.Ser759Phe) c.3254C>T (p.Ser1085Phe) n.3072C>T n.3280C>T | dbSNP gnomAD v4 COSMIC |
| 1 | g.197434983C>A | CA422808835 | CRB1 | c.3120C>A (p.Ser1040=) c.2001C>A (p.Ser667=) c.1263C>A (p.Ser421=) c.2784C>A (p.Ser928=) c.3048C>A (p.Ser1016=) c.2129-617C>A (n.2129-617C>A) n.3121C>A n.3329C>A c.2538C>A (p.Ser846=) c.1563C>A (p.Ser521=) c.2277C>A (p.Ser759=) c.3255C>A (p.Ser1085=) n.3073C>A n.3281C>A | |
| 1 | g.197434983C= | CA1218068746 | CRB1 | c.3120C= (p.Ser1040=) c.2001C= (p.Ser667=) c.1263C= (p.Ser421=) c.2784C= (p.Ser928=) c.3048C= (p.Ser1016=) c.2129-617C= (n.2129-617C=) n.3121C= n.3329C= c.2538C= (p.Ser846=) c.1563C= (p.Ser521=) c.2277C= (p.Ser759=) c.3255C= (p.Ser1085=) n.3073C= n.3281C= | |
| 1 | g.197434983C>G | CA422808836 | CRB1 | c.3120C>G (p.Ser1040=) c.2001C>G (p.Ser667=) c.1263C>G (p.Ser421=) c.2784C>G (p.Ser928=) c.3048C>G (p.Ser1016=) c.2129-617C>G (n.2129-617C>G) n.3121C>G n.3329C>G c.2538C>G (p.Ser846=) c.1563C>G (p.Ser521=) c.2277C>G (p.Ser759=) c.3255C>G (p.Ser1085=) n.3073C>G n.3281C>G | |
| 1 | g.197434983C>T | CA422808837 | CRB1 | c.3120C>T (p.Ser1040=) c.2001C>T (p.Ser667=) c.1263C>T (p.Ser421=) c.2784C>T (p.Ser928=) c.3048C>T (p.Ser1016=) c.2129-617C>T (n.2129-617C>T) n.3121C>T n.3329C>T c.2538C>T (p.Ser846=) c.1563C>T (p.Ser521=) c.2277C>T (p.Ser759=) c.3255C>T (p.Ser1085=) n.3073C>T n.3281C>T | ClinVar dbSNP |
| 1 | g.197434984A= | CA1218068747 | CRB1 | c.3121A= (p.Met1041=) c.2002A= (p.Met668=) c.1264A= (p.Met422=) c.2785A= (p.Met929=) c.3049A= (p.Met1017=) c.2129-616A= (n.2129-616A=) n.3122A= n.3330A= c.2539A= (p.Met847=) c.1564A= (p.Met522=) c.2278A= (p.Met760=) c.3256A= (p.Met1086=) n.3074A= n.3282A= | |
| 1 | g.197434984A>C | CA344045758 | CRB1 | c.3121A>C (p.Met1041Leu) c.2002A>C (p.Met668Leu) c.1264A>C (p.Met422Leu) c.2785A>C (p.Met929Leu) c.3049A>C (p.Met1017Leu) c.2129-616A>C (n.2129-616A>C) n.3122A>C n.3330A>C c.2539A>C (p.Met847Leu) c.1564A>C (p.Met522Leu) c.2278A>C (p.Met760Leu) c.3256A>C (p.Met1086Leu) n.3074A>C n.3282A>C | |
| 1 | g.197434984A>G | CA1312280 | CRB1 | c.3121A>G (p.Met1041Val) c.2002A>G (p.Met668Val) c.1264A>G (p.Met422Val) c.2785A>G (p.Met929Val) c.3049A>G (p.Met1017Val) c.2129-616A>G (n.2129-616A>G) n.3122A>G n.3330A>G c.2539A>G (p.Met847Val) c.1564A>G (p.Met522Val) c.2278A>G (p.Met760Val) c.3256A>G (p.Met1086Val) n.3074A>G n.3282A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197434984A>T | CA344045766 | CRB1 | c.3121A>T (p.Met1041Leu) c.2002A>T (p.Met668Leu) c.1264A>T (p.Met422Leu) c.2785A>T (p.Met929Leu) c.3049A>T (p.Met1017Leu) c.2129-616A>T (n.2129-616A>T) n.3122A>T n.3330A>T c.2539A>T (p.Met847Leu) c.1564A>T (p.Met522Leu) c.2278A>T (p.Met760Leu) c.3256A>T (p.Met1086Leu) n.3074A>T n.3282A>T | |
| 1 | g.197434985T>A | CA344045781 | CRB1 | c.3122T>A (p.Met1041Lys) c.2003T>A (p.Met668Lys) c.1265T>A (p.Met422Lys) c.2786T>A (p.Met929Lys) c.3050T>A (p.Met1017Lys) c.2129-615T>A (n.2129-615T>A) n.3123T>A n.3331T>A c.2540T>A (p.Met847Lys) c.1565T>A (p.Met522Lys) c.2279T>A (p.Met760Lys) c.3257T>A (p.Met1086Lys) n.3075T>A n.3283T>A | |
| 1 | g.197434985T>C | CA228031 | CRB1 | c.3122T>C (p.Met1041Thr) c.2003T>C (p.Met668Thr) c.1265T>C (p.Met422Thr) c.2786T>C (p.Met929Thr) c.3050T>C (p.Met1017Thr) c.2129-615T>C (n.2129-615T>C) n.3123T>C n.3331T>C c.2540T>C (p.Met847Thr) c.1565T>C (p.Met522Thr) c.2279T>C (p.Met760Thr) c.3257T>C (p.Met1086Thr) n.3075T>C n.3283T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197434985T>G | CA344045775 | CRB1 | c.3122T>G (p.Met1041Arg) c.2003T>G (p.Met668Arg) c.1265T>G (p.Met422Arg) c.2786T>G (p.Met929Arg) c.3050T>G (p.Met1017Arg) c.2129-615T>G (n.2129-615T>G) n.3123T>G n.3331T>G c.2540T>G (p.Met847Arg) c.1565T>G (p.Met522Arg) c.2279T>G (p.Met760Arg) c.3257T>G (p.Met1086Arg) n.3075T>G n.3283T>G | |
| 1 | g.197434985T= | CA1140762960 | CRB1 | c.3122T= (p.Met1041=) c.2003T= (p.Met668=) c.1265T= (p.Met422=) c.2786T= (p.Met929=) c.3050T= (p.Met1017=) c.2129-615T= (n.2129-615T=) n.3123T= n.3331T= c.2540T= (p.Met847=) c.1565T= (p.Met522=) c.2279T= (p.Met760=) c.3257T= (p.Met1086=) n.3075T= n.3283T= | |
| 1 | g.197434986G>A | CA344045791 | CRB1 | c.3123G>A (p.Met1041Ile) c.2004G>A (p.Met668Ile) c.1266G>A (p.Met422Ile) c.2787G>A (p.Met929Ile) c.3051G>A (p.Met1017Ile) c.2129-614G>A (n.2129-614G>A) n.3124G>A n.3332G>A c.2541G>A (p.Met847Ile) c.1566G>A (p.Met522Ile) c.2280G>A (p.Met760Ile) c.3258G>A (p.Met1086Ile) n.3076G>A n.3284G>A | |
| 1 | g.197434986G>C | CA344045784 | CRB1 | c.3123G>C (p.Met1041Ile) c.2004G>C (p.Met668Ile) c.1266G>C (p.Met422Ile) c.2787G>C (p.Met929Ile) c.3051G>C (p.Met1017Ile) c.2129-614G>C (n.2129-614G>C) n.3124G>C n.3332G>C c.2541G>C (p.Met847Ile) c.1566G>C (p.Met522Ile) c.2280G>C (p.Met760Ile) c.3258G>C (p.Met1086Ile) n.3076G>C n.3284G>C | |
| 1 | g.197434986G= | CA1218068748 | CRB1 | c.3123G= (p.Met1041=) c.2004G= (p.Met668=) c.1266G= (p.Met422=) c.2787G= (p.Met929=) c.3051G= (p.Met1017=) c.2129-614G= (n.2129-614G=) n.3124G= n.3332G= c.2541G= (p.Met847=) c.1566G= (p.Met522=) c.2280G= (p.Met760=) c.3258G= (p.Met1086=) n.3076G= n.3284G= | |
| 1 | g.197434986G>T | CA344045788 | CRB1 | c.3123G>T (p.Met1041Ile) c.2004G>T (p.Met668Ile) c.1266G>T (p.Met422Ile) c.2787G>T (p.Met929Ile) c.3051G>T (p.Met1017Ile) c.2129-614G>T (n.2129-614G>T) n.3124G>T n.3332G>T c.2541G>T (p.Met847Ile) c.1566G>T (p.Met522Ile) c.2280G>T (p.Met760Ile) c.3258G>T (p.Met1086Ile) n.3076G>T n.3284G>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197434987A= | CA1218068749 | CRB1 | c.3124A= (p.Thr1042=) c.2005A= (p.Thr669=) c.1267A= (p.Thr423=) c.2788A= (p.Thr930=) c.3052A= (p.Thr1018=) c.2129-613A= (n.2129-613A=) n.3125A= n.3333A= c.2542A= (p.Thr848=) c.1567A= (p.Thr523=) c.2281A= (p.Thr761=) c.3259A= (p.Thr1087=) n.3077A= n.3285A= | |
| 1 | g.197434987A>C | CA344045795 | CRB1 | c.3124A>C (p.Thr1042Pro) c.2005A>C (p.Thr669Pro) c.1267A>C (p.Thr423Pro) c.2788A>C (p.Thr930Pro) c.3052A>C (p.Thr1018Pro) c.2129-613A>C (n.2129-613A>C) n.3125A>C n.3333A>C c.2542A>C (p.Thr848Pro) c.1567A>C (p.Thr523Pro) c.2281A>C (p.Thr761Pro) c.3259A>C (p.Thr1087Pro) n.3077A>C n.3285A>C | |
| 1 | g.197434987A>G | CA344045798 | CRB1 | c.3124A>G (p.Thr1042Ala) c.2005A>G (p.Thr669Ala) c.1267A>G (p.Thr423Ala) c.2788A>G (p.Thr930Ala) c.3052A>G (p.Thr1018Ala) c.2129-613A>G (n.2129-613A>G) n.3125A>G n.3333A>G c.2542A>G (p.Thr848Ala) c.1567A>G (p.Thr523Ala) c.2281A>G (p.Thr761Ala) c.3259A>G (p.Thr1087Ala) n.3077A>G n.3285A>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197434987A>T | CA344045799 | CRB1 | c.3124A>T (p.Thr1042Ser) c.2005A>T (p.Thr669Ser) c.1267A>T (p.Thr423Ser) c.2788A>T (p.Thr930Ser) c.3052A>T (p.Thr1018Ser) c.2129-613A>T (n.2129-613A>T) n.3125A>T n.3333A>T c.2542A>T (p.Thr848Ser) c.1567A>T (p.Thr523Ser) c.2281A>T (p.Thr761Ser) c.3259A>T (p.Thr1087Ser) n.3077A>T n.3285A>T | |
| 1 | g.197434988C>A | CA344045800 | CRB1 | c.3125C>A (p.Thr1042Lys) c.2006C>A (p.Thr669Lys) c.1268C>A (p.Thr423Lys) c.2789C>A (p.Thr930Lys) c.3053C>A (p.Thr1018Lys) c.2129-612C>A (n.2129-612C>A) n.3126C>A n.3334C>A c.2543C>A (p.Thr848Lys) c.1568C>A (p.Thr523Lys) c.2282C>A (p.Thr761Lys) c.3260C>A (p.Thr1087Lys) n.3078C>A n.3286C>A | |
| 1 | g.197434988C>G | CA344045801 | CRB1 | c.3125C>G (p.Thr1042Arg) c.2006C>G (p.Thr669Arg) c.1268C>G (p.Thr423Arg) c.2789C>G (p.Thr930Arg) c.3053C>G (p.Thr1018Arg) c.2129-612C>G (n.2129-612C>G) n.3126C>G n.3334C>G c.2543C>G (p.Thr848Arg) c.1568C>G (p.Thr523Arg) c.2282C>G (p.Thr761Arg) c.3260C>G (p.Thr1087Arg) n.3078C>G n.3286C>G | |
| 1 | g.197434988C>T | CA344045803 | CRB1 | c.3125C>T (p.Thr1042Ile) c.2006C>T (p.Thr669Ile) c.1268C>T (p.Thr423Ile) c.2789C>T (p.Thr930Ile) c.3053C>T (p.Thr1018Ile) c.2129-612C>T (n.2129-612C>T) n.3126C>T n.3334C>T c.2543C>T (p.Thr848Ile) c.1568C>T (p.Thr523Ile) c.2282C>T (p.Thr761Ile) c.3260C>T (p.Thr1087Ile) n.3078C>T n.3286C>T | gnomAD v4 |
| 1 | g.197434989A>C | CA422808850 | CRB1 | c.3126A>C (p.Thr1042=) c.2007A>C (p.Thr669=) c.1269A>C (p.Thr423=) c.2790A>C (p.Thr930=) c.3054A>C (p.Thr1018=) c.2129-611A>C (n.2129-611A>C) n.3127A>C n.3335A>C c.2544A>C (p.Thr848=) c.1569A>C (p.Thr523=) c.2283A>C (p.Thr761=) c.3261A>C (p.Thr1087=) n.3079A>C n.3287A>C | |
| 1 | g.197434989A>G | CA422808852 | CRB1 | c.3126A>G (p.Thr1042=) c.2007A>G (p.Thr669=) c.1269A>G (p.Thr423=) c.2790A>G (p.Thr930=) c.3054A>G (p.Thr1018=) c.2129-611A>G (n.2129-611A>G) n.3127A>G n.3335A>G c.2544A>G (p.Thr848=) c.1569A>G (p.Thr523=) c.2283A>G (p.Thr761=) c.3261A>G (p.Thr1087=) n.3079A>G n.3287A>G | |
| 1 | g.197434989A>T | CA422808853 | CRB1 | c.3126A>T (p.Thr1042=) c.2007A>T (p.Thr669=) c.1269A>T (p.Thr423=) c.2790A>T (p.Thr930=) c.3054A>T (p.Thr1018=) c.2129-611A>T (n.2129-611A>T) n.3127A>T n.3335A>T c.2544A>T (p.Thr848=) c.1569A>T (p.Thr523=) c.2283A>T (p.Thr761=) c.3261A>T (p.Thr1087=) n.3079A>T n.3287A>T | |
| 1 | g.197434990G>A | CA344045807 | CRB1 | c.3127G>A (p.Asp1043Asn) c.2008G>A (p.Asp670Asn) c.1270G>A (p.Asp424Asn) c.2791G>A (p.Asp931Asn) c.3055G>A (p.Asp1019Asn) c.2129-610G>A (n.2129-610G>A) n.3128G>A n.3336G>A c.2545G>A (p.Asp849Asn) c.1570G>A (p.Asp524Asn) c.2284G>A (p.Asp762Asn) c.3262G>A (p.Asp1088Asn) n.3080G>A n.3288G>A | COSMIC COSMIC |
| 1 | g.197434990G>C | CA344045812 | CRB1 | c.3127G>C (p.Asp1043His) c.2008G>C (p.Asp670His) c.1270G>C (p.Asp424His) c.2791G>C (p.Asp931His) c.3055G>C (p.Asp1019His) c.2129-610G>C (n.2129-610G>C) n.3128G>C n.3336G>C c.2545G>C (p.Asp849His) c.1570G>C (p.Asp524His) c.2284G>C (p.Asp762His) c.3262G>C (p.Asp1088His) n.3080G>C n.3288G>C | |
| 1 | g.197434990G>T | CA344045813 | CRB1 | c.3127G>T (p.Asp1043Tyr) c.2008G>T (p.Asp670Tyr) c.1270G>T (p.Asp424Tyr) c.2791G>T (p.Asp931Tyr) c.3055G>T (p.Asp1019Tyr) c.2129-610G>T (n.2129-610G>T) n.3128G>T n.3336G>T c.2545G>T (p.Asp849Tyr) c.1570G>T (p.Asp524Tyr) c.2284G>T (p.Asp762Tyr) c.3262G>T (p.Asp1088Tyr) n.3080G>T n.3288G>T | |
| 1 | g.197434991A= | CA1218068750 | CRB1 | c.3128A= (p.Asp1043=) c.2009A= (p.Asp670=) c.1271A= (p.Asp424=) c.2792A= (p.Asp931=) c.3056A= (p.Asp1019=) c.2129-609A= (n.2129-609A=) n.3129A= n.3337A= c.2546A= (p.Asp849=) c.1571A= (p.Asp524=) c.2285A= (p.Asp762=) c.3263A= (p.Asp1088=) n.3081A= n.3289A= | |
| 1 | g.197434991A>C | CA344045818 | CRB1 | c.3128A>C (p.Asp1043Ala) c.2009A>C (p.Asp670Ala) c.1271A>C (p.Asp424Ala) c.2792A>C (p.Asp931Ala) c.3056A>C (p.Asp1019Ala) c.2129-609A>C (n.2129-609A>C) n.3129A>C n.3337A>C c.2546A>C (p.Asp849Ala) c.1571A>C (p.Asp524Ala) c.2285A>C (p.Asp762Ala) c.3263A>C (p.Asp1088Ala) n.3081A>C n.3289A>C | |
| 1 | g.197434991A>G | CA344045823 | CRB1 | c.3128A>G (p.Asp1043Gly) c.2009A>G (p.Asp670Gly) c.1271A>G (p.Asp424Gly) c.2792A>G (p.Asp931Gly) c.3056A>G (p.Asp1019Gly) c.2129-609A>G (n.2129-609A>G) n.3129A>G n.3337A>G c.2546A>G (p.Asp849Gly) c.1571A>G (p.Asp524Gly) c.2285A>G (p.Asp762Gly) c.3263A>G (p.Asp1088Gly) n.3081A>G n.3289A>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197434991A>T | CA344045827 | CRB1 | c.3128A>T (p.Asp1043Val) c.2009A>T (p.Asp670Val) c.1271A>T (p.Asp424Val) c.2792A>T (p.Asp931Val) c.3056A>T (p.Asp1019Val) c.2129-609A>T (n.2129-609A>T) n.3129A>T n.3337A>T c.2546A>T (p.Asp849Val) c.1571A>T (p.Asp524Val) c.2285A>T (p.Asp762Val) c.3263A>T (p.Asp1088Val) n.3081A>T n.3289A>T | |
| 1 | g.197434992C>A | CA344045832 | CRB1 | c.3129C>A (p.Asp1043Glu) c.2010C>A (p.Asp670Glu) c.1272C>A (p.Asp424Glu) c.2793C>A (p.Asp931Glu) c.3057C>A (p.Asp1019Glu) c.2129-608C>A (n.2129-608C>A) n.3130C>A n.3338C>A c.2547C>A (p.Asp849Glu) c.1572C>A (p.Asp524Glu) c.2286C>A (p.Asp762Glu) c.3264C>A (p.Asp1088Glu) n.3082C>A n.3290C>A | |
| 1 | g.197434992C>G | CA344045838 | CRB1 | c.3129C>G (p.Asp1043Glu) c.2010C>G (p.Asp670Glu) c.1272C>G (p.Asp424Glu) c.2793C>G (p.Asp931Glu) c.3057C>G (p.Asp1019Glu) c.2129-608C>G (n.2129-608C>G) n.3130C>G n.3338C>G c.2547C>G (p.Asp849Glu) c.1572C>G (p.Asp524Glu) c.2286C>G (p.Asp762Glu) c.3264C>G (p.Asp1088Glu) n.3082C>G n.3290C>G | |
| 1 | g.197434992C>T | CA422808860 | CRB1 | c.3129C>T (p.Asp1043=) c.2010C>T (p.Asp670=) c.1272C>T (p.Asp424=) c.2793C>T (p.Asp931=) c.3057C>T (p.Asp1019=) c.2129-608C>T (n.2129-608C>T) n.3130C>T n.3338C>T c.2547C>T (p.Asp849=) c.1572C>T (p.Asp524=) c.2286C>T (p.Asp762=) c.3264C>T (p.Asp1088=) n.3082C>T n.3290C>T | |
| 1 | g.197434993C>A | CA1312281 | CRB1 | c.3130C>A (p.Pro1044Thr) c.2011C>A (p.Pro671Thr) c.1273C>A (p.Pro425Thr) c.2794C>A (p.Pro932Thr) c.3058C>A (p.Pro1020Thr) c.2129-607C>A (n.2129-607C>A) n.3131C>A n.3339C>A c.2548C>A (p.Pro850Thr) c.1573C>A (p.Pro525Thr) c.2287C>A (p.Pro763Thr) c.3265C>A (p.Pro1089Thr) n.3083C>A n.3291C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197434993C= | CA1148306416 | CRB1 | c.3130C= (p.Pro1044=) c.2011C= (p.Pro671=) c.1273C= (p.Pro425=) c.2794C= (p.Pro932=) c.3058C= (p.Pro1020=) c.2129-607C= (n.2129-607C=) n.3131C= n.3339C= c.2548C= (p.Pro850=) c.1573C= (p.Pro525=) c.2287C= (p.Pro763=) c.3265C= (p.Pro1089=) n.3083C= n.3291C= | |
| 1 | g.197434993C>G | CA344045848 | CRB1 | c.3130C>G (p.Pro1044Ala) c.2011C>G (p.Pro671Ala) c.1273C>G (p.Pro425Ala) c.2794C>G (p.Pro932Ala) c.3058C>G (p.Pro1020Ala) c.2129-607C>G (n.2129-607C>G) n.3131C>G n.3339C>G c.2548C>G (p.Pro850Ala) c.1573C>G (p.Pro525Ala) c.2287C>G (p.Pro763Ala) c.3265C>G (p.Pro1089Ala) n.3083C>G n.3291C>G | |
| 1 | g.197434993C>T | CA344045852 | CRB1 | c.3130C>T (p.Pro1044Ser) c.2011C>T (p.Pro671Ser) c.1273C>T (p.Pro425Ser) c.2794C>T (p.Pro932Ser) c.3058C>T (p.Pro1020Ser) c.2129-607C>T (n.2129-607C>T) n.3131C>T n.3339C>T c.2548C>T (p.Pro850Ser) c.1573C>T (p.Pro525Ser) c.2287C>T (p.Pro763Ser) c.3265C>T (p.Pro1089Ser) n.3083C>T n.3291C>T | |
| 1 | g.197434994C>A | CA344045857 | CRB1 | c.3131C>A (p.Pro1044Gln) c.2012C>A (p.Pro671Gln) c.1274C>A (p.Pro425Gln) c.2795C>A (p.Pro932Gln) c.3059C>A (p.Pro1020Gln) c.2129-606C>A (n.2129-606C>A) n.3132C>A n.3340C>A c.2549C>A (p.Pro850Gln) c.1574C>A (p.Pro525Gln) c.2288C>A (p.Pro763Gln) c.3266C>A (p.Pro1089Gln) n.3084C>A n.3292C>A | |
| 1 | g.197434994C>G | CA344045861 | CRB1 | c.3131C>G (p.Pro1044Arg) c.2012C>G (p.Pro671Arg) c.1274C>G (p.Pro425Arg) c.2795C>G (p.Pro932Arg) c.3059C>G (p.Pro1020Arg) c.2129-606C>G (n.2129-606C>G) n.3132C>G n.3340C>G c.2549C>G (p.Pro850Arg) c.1574C>G (p.Pro525Arg) c.2288C>G (p.Pro763Arg) c.3266C>G (p.Pro1089Arg) n.3084C>G n.3292C>G | |
| 1 | g.197434994C>T | CA344045864 | CRB1 | c.3131C>T (p.Pro1044Leu) c.2012C>T (p.Pro671Leu) c.1274C>T (p.Pro425Leu) c.2795C>T (p.Pro932Leu) c.3059C>T (p.Pro1020Leu) c.2129-606C>T (n.2129-606C>T) n.3132C>T n.3340C>T c.2549C>T (p.Pro850Leu) c.1574C>T (p.Pro525Leu) c.2288C>T (p.Pro763Leu) c.3266C>T (p.Pro1089Leu) n.3084C>T n.3292C>T | |
| 1 | g.197434995A= | CA1218068751 | CRB1 | c.3132A= (p.Pro1044=) c.2013A= (p.Pro671=) c.1275A= (p.Pro425=) c.2796A= (p.Pro932=) c.3060A= (p.Pro1020=) c.2129-605A= (n.2129-605A=) n.3133A= n.3341A= c.2550A= (p.Pro850=) c.1575A= (p.Pro525=) c.2289A= (p.Pro763=) c.3267A= (p.Pro1089=) n.3085A= n.3293A= | |
| 1 | g.197434995A>C | CA422808868 | CRB1 | c.3132A>C (p.Pro1044=) c.2013A>C (p.Pro671=) c.1275A>C (p.Pro425=) c.2796A>C (p.Pro932=) c.3060A>C (p.Pro1020=) c.2129-605A>C (n.2129-605A>C) n.3133A>C n.3341A>C c.2550A>C (p.Pro850=) c.1575A>C (p.Pro525=) c.2289A>C (p.Pro763=) c.3267A>C (p.Pro1089=) n.3085A>C n.3293A>C | gnomAD v4 |
| 1 | g.197434995A>G | CA1312282 | CRB1 | c.3132A>G (p.Pro1044=) c.2013A>G (p.Pro671=) c.1275A>G (p.Pro425=) c.2796A>G (p.Pro932=) c.3060A>G (p.Pro1020=) c.2129-605A>G (n.2129-605A>G) n.3133A>G n.3341A>G c.2550A>G (p.Pro850=) c.1575A>G (p.Pro525=) c.2289A>G (p.Pro763=) c.3267A>G (p.Pro1089=) n.3085A>G n.3293A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197434995A>T | CA422808869 | CRB1 | c.3132A>T (p.Pro1044=) c.2013A>T (p.Pro671=) c.1275A>T (p.Pro425=) c.2796A>T (p.Pro932=) c.3060A>T (p.Pro1020=) c.2129-605A>T (n.2129-605A>T) n.3133A>T n.3341A>T c.2550A>T (p.Pro850=) c.1575A>T (p.Pro525=) c.2289A>T (p.Pro763=) c.3267A>T (p.Pro1089=) n.3085A>T n.3293A>T | |
| 1 | g.197434995_197435008del | CA2649670640 | CRB1 | c.3132_3145del (p.Leu1045GlnfsTer28) c.2013_2026del (p.Leu672GlnfsTer28) c.1275_1288del (p.Leu426GlnfsTer28) c.2796_2809del (p.Leu933GlnfsTer28) c.3060_3073del (p.Leu1021GlnfsTer28) c.2129-605_2129-592del (n.2129-605_2129-592del) n.3133_3146del n.3341_3354del c.2550_2563del (p.Leu851GlnfsTer28) c.1575_1588del (p.Leu526GlnfsTer28) c.2289_2302del (p.Leu764GlnfsTer28) c.3267_3280del (p.Leu1090GlnfsTer28) n.3085_3098del n.3293_3306del | gnomAD v4 |
| 1 | g.197434996C>A | CA344045868 | CRB1 | c.3133C>A (p.Leu1045Met) c.2014C>A (p.Leu672Met) c.1276C>A (p.Leu426Met) c.2797C>A (p.Leu933Met) c.3061C>A (p.Leu1021Met) c.2129-604C>A (n.2129-604C>A) n.3134C>A n.3342C>A c.2551C>A (p.Leu851Met) c.1576C>A (p.Leu526Met) c.2290C>A (p.Leu764Met) c.3268C>A (p.Leu1090Met) n.3086C>A n.3294C>A | |
| 1 | g.197434996C>G | CA344045869 | CRB1 | c.3133C>G (p.Leu1045Val) c.2014C>G (p.Leu672Val) c.1276C>G (p.Leu426Val) c.2797C>G (p.Leu933Val) c.3061C>G (p.Leu1021Val) c.2129-604C>G (n.2129-604C>G) n.3134C>G n.3342C>G c.2551C>G (p.Leu851Val) c.1576C>G (p.Leu526Val) c.2290C>G (p.Leu764Val) c.3268C>G (p.Leu1090Val) n.3086C>G n.3294C>G | |
| 1 | g.197434996C>T | CA422808871 | CRB1 | c.3133C>T (p.Leu1045=) c.2014C>T (p.Leu672=) c.1276C>T (p.Leu426=) c.2797C>T (p.Leu933=) c.3061C>T (p.Leu1021=) c.2129-604C>T (n.2129-604C>T) n.3134C>T n.3342C>T c.2551C>T (p.Leu851=) c.1576C>T (p.Leu526=) c.2290C>T (p.Leu764=) c.3268C>T (p.Leu1090=) n.3086C>T n.3294C>T | |
| 1 | g.197434997del | CA2499214382 | CRB1 | c.3134del (p.Leu1045ArgfsTer18) c.2015del (p.Leu672ArgfsTer18) c.1277del (p.Leu426ArgfsTer18) c.2798del (p.Leu933ArgfsTer18) c.3062del (p.Leu1021ArgfsTer18) c.2129-603del (n.2129-603del) n.3135del n.3343del c.2552del (p.Leu851ArgfsTer18) c.1577del (p.Leu526ArgfsTer18) c.2291del (p.Leu764ArgfsTer18) c.3269del (p.Leu1090ArgfsTer18) n.3087del n.3295del | ClinVar dbSNP |
| 1 | g.197434997T>A | CA344045871 | CRB1 | c.3134T>A (p.Leu1045Gln) c.2015T>A (p.Leu672Gln) c.1277T>A (p.Leu426Gln) c.2798T>A (p.Leu933Gln) c.3062T>A (p.Leu1021Gln) c.2129-603T>A (n.2129-603T>A) n.3135T>A n.3343T>A c.2552T>A (p.Leu851Gln) c.1577T>A (p.Leu526Gln) c.2291T>A (p.Leu764Gln) c.3269T>A (p.Leu1090Gln) n.3087T>A n.3295T>A | |
| 1 | g.197434997T>C | CA344045874 | CRB1 | c.3134T>C (p.Leu1045Pro) c.2015T>C (p.Leu672Pro) c.1277T>C (p.Leu426Pro) c.2798T>C (p.Leu933Pro) c.3062T>C (p.Leu1021Pro) c.2129-603T>C (n.2129-603T>C) n.3135T>C n.3343T>C c.2552T>C (p.Leu851Pro) c.1577T>C (p.Leu526Pro) c.2291T>C (p.Leu764Pro) c.3269T>C (p.Leu1090Pro) n.3087T>C n.3295T>C | |
| 1 | g.197434997T>G | CA344045876 | CRB1 | c.3134T>G (p.Leu1045Arg) c.2015T>G (p.Leu672Arg) c.1277T>G (p.Leu426Arg) c.2798T>G (p.Leu933Arg) c.3062T>G (p.Leu1021Arg) c.2129-603T>G (n.2129-603T>G) n.3135T>G n.3343T>G c.2552T>G (p.Leu851Arg) c.1577T>G (p.Leu526Arg) c.2291T>G (p.Leu764Arg) c.3269T>G (p.Leu1090Arg) n.3087T>G n.3295T>G | |
| 1 | g.197434998G>A | CA422808873 | CRB1 | c.3135G>A (p.Leu1045=) c.2016G>A (p.Leu672=) c.1278G>A (p.Leu426=) c.2799G>A (p.Leu933=) c.3063G>A (p.Leu1021=) c.2129-602G>A (n.2129-602G>A) n.3136G>A n.3344G>A c.2553G>A (p.Leu851=) c.1578G>A (p.Leu526=) c.2292G>A (p.Leu764=) c.3270G>A (p.Leu1090=) n.3088G>A n.3296G>A | |
| 1 | g.197434998G>C | CA422808874 | CRB1 | c.3135G>C (p.Leu1045=) c.2016G>C (p.Leu672=) c.1278G>C (p.Leu426=) c.2799G>C (p.Leu933=) c.3063G>C (p.Leu1021=) c.2129-602G>C (n.2129-602G>C) n.3136G>C n.3344G>C c.2553G>C (p.Leu851=) c.1578G>C (p.Leu526=) c.2292G>C (p.Leu764=) c.3270G>C (p.Leu1090=) n.3088G>C n.3296G>C | |
| 1 | g.197434998G>T | CA422808875 | CRB1 | c.3135G>T (p.Leu1045=) c.2016G>T (p.Leu672=) c.1278G>T (p.Leu426=) c.2799G>T (p.Leu933=) c.3063G>T (p.Leu1021=) c.2129-602G>T (n.2129-602G>T) n.3136G>T n.3344G>T c.2553G>T (p.Leu851=) c.1578G>T (p.Leu526=) c.2292G>T (p.Leu764=) c.3270G>T (p.Leu1090=) n.3088G>T n.3296G>T | |
| 1 | g.197434999T>A | CA344045886 | CRB1 | c.3136T>A (p.Ser1046Thr) c.2017T>A (p.Ser673Thr) c.1279T>A (p.Ser427Thr) c.2800T>A (p.Ser934Thr) c.3064T>A (p.Ser1022Thr) c.2129-601T>A (n.2129-601T>A) n.3137T>A n.3345T>A c.2554T>A (p.Ser852Thr) c.1579T>A (p.Ser527Thr) c.2293T>A (p.Ser765Thr) c.3271T>A (p.Ser1091Thr) n.3089T>A n.3297T>A | |
| 1 | g.197434999T>C | CA344045894 | CRB1 | c.3136T>C (p.Ser1046Pro) c.2017T>C (p.Ser673Pro) c.1279T>C (p.Ser427Pro) c.2800T>C (p.Ser934Pro) c.3064T>C (p.Ser1022Pro) c.2129-601T>C (n.2129-601T>C) n.3137T>C n.3345T>C c.2554T>C (p.Ser852Pro) c.1579T>C (p.Ser527Pro) c.2293T>C (p.Ser765Pro) c.3271T>C (p.Ser1091Pro) n.3089T>C n.3297T>C | |
| 1 | g.197434999T>G | CA344045882 | CRB1 | c.3136T>G (p.Ser1046Ala) c.2017T>G (p.Ser673Ala) c.1279T>G (p.Ser427Ala) c.2800T>G (p.Ser934Ala) c.3064T>G (p.Ser1022Ala) c.2129-601T>G (n.2129-601T>G) n.3137T>G n.3345T>G c.2554T>G (p.Ser852Ala) c.1579T>G (p.Ser527Ala) c.2293T>G (p.Ser765Ala) c.3271T>G (p.Ser1091Ala) n.3089T>G n.3297T>G | |
| 1 | g.197435000C>A | CA344045899 | CRB1 | c.3137C>A (p.Ser1046Tyr) c.2018C>A (p.Ser673Tyr) c.1280C>A (p.Ser427Tyr) c.2801C>A (p.Ser934Tyr) c.3065C>A (p.Ser1022Tyr) c.2129-600C>A (n.2129-600C>A) n.3138C>A n.3346C>A c.2555C>A (p.Ser852Tyr) c.1580C>A (p.Ser527Tyr) c.2294C>A (p.Ser765Tyr) c.3272C>A (p.Ser1091Tyr) n.3090C>A n.3298C>A | |
| 1 | g.197435000C= | CA1218068752 | CRB1 | c.3137C= (p.Ser1046=) c.2018C= (p.Ser673=) c.1280C= (p.Ser427=) c.2801C= (p.Ser934=) c.3065C= (p.Ser1022=) c.2129-600C= (n.2129-600C=) n.3138C= n.3346C= c.2555C= (p.Ser852=) c.1580C= (p.Ser527=) c.2294C= (p.Ser765=) c.3272C= (p.Ser1091=) n.3090C= n.3298C= | |
| 1 | g.197435000C>G | CA344045912 | CRB1 | c.3137C>G (p.Ser1046Cys) c.2018C>G (p.Ser673Cys) c.1280C>G (p.Ser427Cys) c.2801C>G (p.Ser934Cys) c.3065C>G (p.Ser1022Cys) c.2129-600C>G (n.2129-600C>G) n.3138C>G n.3346C>G c.2555C>G (p.Ser852Cys) c.1580C>G (p.Ser527Cys) c.2294C>G (p.Ser765Cys) c.3272C>G (p.Ser1091Cys) n.3090C>G n.3298C>G | |
| 1 | g.197435000C>T | CA344045907 | CRB1 | c.3137C>T (p.Ser1046Phe) c.2018C>T (p.Ser673Phe) c.1280C>T (p.Ser427Phe) c.2801C>T (p.Ser934Phe) c.3065C>T (p.Ser1022Phe) c.2129-600C>T (n.2129-600C>T) n.3138C>T n.3346C>T c.2555C>T (p.Ser852Phe) c.1580C>T (p.Ser527Phe) c.2294C>T (p.Ser765Phe) c.3272C>T (p.Ser1091Phe) n.3090C>T n.3298C>T | ClinVar dbSNP |
| 1 | g.197435001C>A | CA422808878 | CRB1 | c.3138C>A (p.Ser1046=) c.2019C>A (p.Ser673=) c.1281C>A (p.Ser427=) c.2802C>A (p.Ser934=) c.3066C>A (p.Ser1022=) c.2129-599C>A (n.2129-599C>A) n.3139C>A n.3347C>A c.2556C>A (p.Ser852=) c.1581C>A (p.Ser527=) c.2295C>A (p.Ser765=) c.3273C>A (p.Ser1091=) n.3091C>A n.3299C>A | |
| 1 | g.197435001C>G | CA422808879 | CRB1 | c.3138C>G (p.Ser1046=) c.2019C>G (p.Ser673=) c.1281C>G (p.Ser427=) c.2802C>G (p.Ser934=) c.3066C>G (p.Ser1022=) c.2129-599C>G (n.2129-599C>G) n.3139C>G n.3347C>G c.2556C>G (p.Ser852=) c.1581C>G (p.Ser527=) c.2295C>G (p.Ser765=) c.3273C>G (p.Ser1091=) n.3091C>G n.3299C>G | |
| 1 | g.197435001C>T | CA422808880 | CRB1 | c.3138C>T (p.Ser1046=) c.2019C>T (p.Ser673=) c.1281C>T (p.Ser427=) c.2802C>T (p.Ser934=) c.3066C>T (p.Ser1022=) c.2129-599C>T (n.2129-599C>T) n.3139C>T n.3347C>T c.2556C>T (p.Ser852=) c.1581C>T (p.Ser527=) c.2295C>T (p.Ser765=) c.3273C>T (p.Ser1091=) n.3091C>T n.3299C>T | |
| 1 | g.197435005_197435012del | CA2580061935 | CRB1 | c.3142_3149del (p.Thr1048ValfsTer27) c.2023_2030del (p.Thr675ValfsTer27) c.1285_1292del (p.Thr429ValfsTer27) c.2806_2813del (p.Thr936ValfsTer27) c.3070_3077del (p.Thr1024ValfsTer27) c.2129-595_2129-588del (n.2129-595_2129-588del) n.3143_3150del n.3351_3358del c.2560_2567del (p.Thr854ValfsTer27) c.1585_1592del (p.Thr529ValfsTer27) c.2299_2306del (p.Thr767ValfsTer27) c.3277_3284del (p.Thr1093ValfsTer27) n.3095_3102del n.3303_3310del | ClinVar |
| 1 | g.197435002C>A | CA344045919 | CRB1 | c.3139C>A (p.Gln1047Lys) c.2020C>A (p.Gln674Lys) c.1282C>A (p.Gln428Lys) c.2803C>A (p.Gln935Lys) c.3067C>A (p.Gln1023Lys) c.2129-598C>A (n.2129-598C>A) n.3140C>A n.3348C>A c.2557C>A (p.Gln853Lys) c.1582C>A (p.Gln528Lys) c.2296C>A (p.Gln766Lys) c.3274C>A (p.Gln1092Lys) n.3092C>A n.3300C>A | gnomAD v4 |
| 1 | g.197435002C= | CA1218068753 | CRB1 | c.3139C= (p.Gln1047=) c.2020C= (p.Gln674=) c.1282C= (p.Gln428=) c.2803C= (p.Gln935=) c.3067C= (p.Gln1023=) c.2129-598C= (n.2129-598C=) n.3140C= n.3348C= c.2557C= (p.Gln853=) c.1582C= (p.Gln528=) c.2296C= (p.Gln766=) c.3274C= (p.Gln1092=) n.3092C= n.3300C= | |
| 1 | g.197435002C>G | CA344045923 | CRB1 | c.3139C>G (p.Gln1047Glu) c.2020C>G (p.Gln674Glu) c.1282C>G (p.Gln428Glu) c.2803C>G (p.Gln935Glu) c.3067C>G (p.Gln1023Glu) c.2129-598C>G (n.2129-598C>G) n.3140C>G n.3348C>G c.2557C>G (p.Gln853Glu) c.1582C>G (p.Gln528Glu) c.2296C>G (p.Gln766Glu) c.3274C>G (p.Gln1092Glu) n.3092C>G n.3300C>G | |
| 1 | g.197435002C>T | CA344045924 | CRB1 | c.3139C>T (p.Gln1047Ter) c.2020C>T (p.Gln674Ter) c.1282C>T (p.Gln428Ter) c.2803C>T (p.Gln935Ter) c.3067C>T (p.Gln1023Ter) c.2129-598C>T (n.2129-598C>T) n.3140C>T n.3348C>T c.2557C>T (p.Gln853Ter) c.1582C>T (p.Gln528Ter) c.2296C>T (p.Gln766Ter) c.3274C>T (p.Gln1092Ter) n.3092C>T n.3300C>T | dbSNP gnomAD v2 |
| 1 | g.197435003A>C | CA344045925 | CRB1 | c.3140A>C (p.Gln1047Pro) c.2021A>C (p.Gln674Pro) c.1283A>C (p.Gln428Pro) c.2804A>C (p.Gln935Pro) c.3068A>C (p.Gln1023Pro) c.2129-597A>C (n.2129-597A>C) n.3141A>C n.3349A>C c.2558A>C (p.Gln853Pro) c.1583A>C (p.Gln528Pro) c.2297A>C (p.Gln766Pro) c.3275A>C (p.Gln1092Pro) n.3093A>C n.3301A>C | |
| 1 | g.197435003A>G | CA344045929 | CRB1 | c.3140A>G (p.Gln1047Arg) c.2021A>G (p.Gln674Arg) c.1283A>G (p.Gln428Arg) c.2804A>G (p.Gln935Arg) c.3068A>G (p.Gln1023Arg) c.2129-597A>G (n.2129-597A>G) n.3141A>G n.3349A>G c.2558A>G (p.Gln853Arg) c.1583A>G (p.Gln528Arg) c.2297A>G (p.Gln766Arg) c.3275A>G (p.Gln1092Arg) n.3093A>G n.3301A>G | |
| 1 | g.197435003A>T | CA344045944 | CRB1 | c.3140A>T (p.Gln1047Leu) c.2021A>T (p.Gln674Leu) c.1283A>T (p.Gln428Leu) c.2804A>T (p.Gln935Leu) c.3068A>T (p.Gln1023Leu) c.2129-597A>T (n.2129-597A>T) n.3141A>T n.3349A>T c.2558A>T (p.Gln853Leu) c.1583A>T (p.Gln528Leu) c.2297A>T (p.Gln766Leu) c.3275A>T (p.Gln1092Leu) n.3093A>T n.3301A>T | |
| 1 | g.197435004G>A | CA422808886 | CRB1 | c.3141G>A (p.Gln1047=) c.2022G>A (p.Gln674=) c.1284G>A (p.Gln428=) c.2805G>A (p.Gln935=) c.3069G>A (p.Gln1023=) c.2129-596G>A (n.2129-596G>A) n.3142G>A n.3350G>A c.2559G>A (p.Gln853=) c.1584G>A (p.Gln528=) c.2298G>A (p.Gln766=) c.3276G>A (p.Gln1092=) n.3094G>A n.3302G>A | |
| 1 | g.197435004G>C | CA344045963 | CRB1 | c.3141G>C (p.Gln1047His) c.2022G>C (p.Gln674His) c.1284G>C (p.Gln428His) c.2805G>C (p.Gln935His) c.3069G>C (p.Gln1023His) c.2129-596G>C (n.2129-596G>C) n.3142G>C n.3350G>C c.2559G>C (p.Gln853His) c.1584G>C (p.Gln528His) c.2298G>C (p.Gln766His) c.3276G>C (p.Gln1092His) n.3094G>C n.3302G>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197435004G= | CA1218068754 | CRB1 | c.3141G= (p.Gln1047=) c.2022G= (p.Gln674=) c.1284G= (p.Gln428=) c.2805G= (p.Gln935=) c.3069G= (p.Gln1023=) c.2129-596G= (n.2129-596G=) n.3142G= n.3350G= c.2559G= (p.Gln853=) c.1584G= (p.Gln528=) c.2298G= (p.Gln766=) c.3276G= (p.Gln1092=) n.3094G= n.3302G= | |
| 1 | g.197435004G>T | CA344045964 | CRB1 | c.3141G>T (p.Gln1047His) c.2022G>T (p.Gln674His) c.1284G>T (p.Gln428His) c.2805G>T (p.Gln935His) c.3069G>T (p.Gln1023His) c.2129-596G>T (n.2129-596G>T) n.3142G>T n.3350G>T c.2559G>T (p.Gln853His) c.1584G>T (p.Gln528His) c.2298G>T (p.Gln766His) c.3276G>T (p.Gln1092His) n.3094G>T n.3302G>T | |
| 1 | g.197435005A>C | CA344045967 | CRB1 | c.3142A>C (p.Thr1048Pro) c.2023A>C (p.Thr675Pro) c.1285A>C (p.Thr429Pro) c.2806A>C (p.Thr936Pro) c.3070A>C (p.Thr1024Pro) c.2129-595A>C (n.2129-595A>C) n.3143A>C n.3351A>C c.2560A>C (p.Thr854Pro) c.1585A>C (p.Thr529Pro) c.2299A>C (p.Thr767Pro) c.3277A>C (p.Thr1093Pro) n.3095A>C n.3303A>C | |
| 1 | g.197435005A>G | CA344045969 | CRB1 | c.3142A>G (p.Thr1048Ala) c.2023A>G (p.Thr675Ala) c.1285A>G (p.Thr429Ala) c.2806A>G (p.Thr936Ala) c.3070A>G (p.Thr1024Ala) c.2129-595A>G (n.2129-595A>G) n.3143A>G n.3351A>G c.2560A>G (p.Thr854Ala) c.1585A>G (p.Thr529Ala) c.2299A>G (p.Thr767Ala) c.3277A>G (p.Thr1093Ala) n.3095A>G n.3303A>G | |
| 1 | g.197435005A>T | CA344045970 | CRB1 | c.3142A>T (p.Thr1048Ser) c.2023A>T (p.Thr675Ser) c.1285A>T (p.Thr429Ser) c.2806A>T (p.Thr936Ser) c.3070A>T (p.Thr1024Ser) c.2129-595A>T (n.2129-595A>T) n.3143A>T n.3351A>T c.2560A>T (p.Thr854Ser) c.1585A>T (p.Thr529Ser) c.2299A>T (p.Thr767Ser) c.3277A>T (p.Thr1093Ser) n.3095A>T n.3303A>T | gnomAD v4 |
| 1 | g.197435005_197435006delinsAC | CA1218068755 | CRB1 | c.3142_3143delinsAC (p.Thr1048=) c.2023_2024delinsAC (p.Thr675=) c.1285_1286delinsAC (p.Thr429=) c.2806_2807delinsAC (p.Thr936=) c.3070_3071delinsAC (p.Thr1024=) c.2129-595_2129-594delinsAC (n.2129-595_2129-594delinsAC) n.3143_3144delinsAC n.3351_3352delinsAC c.2560_2561delinsAC (p.Thr854=) c.1585_1586delinsAC (p.Thr529=) c.2299_2300delinsAC (p.Thr767=) c.3277_3278delinsAC (p.Thr1093=) n.3095_3096delinsAC n.3303_3304delinsAC | |
| 1 | g.197435005_197435017delinsACCTCCAGGTGGC | CA1218068756 | CRB1 | c.3142_3154delinsACCTCCAGGTGGC (p.Thr1048=) c.2023_2035delinsACCTCCAGGTGGC (p.Thr675=) c.1285_1297delinsACCTCCAGGTGGC (p.Thr429=) c.2806_2818delinsACCTCCAGGTGGC (p.Thr936=) c.3070_3082delinsACCTCCAGGTGGC (p.Thr1024=) c.2129-595_2129-583delinsACCTCCAGGTGGC (n.2129-595_2129-583delinsACCTCCAGGTGGC) n.3143_3155delinsACCTCCAGGTGGC n.3351_3363delinsACCTCCAGGTGGC c.2560_2572delinsACCTCCAGGTGGC (p.Thr854=) c.1585_1597delinsACCTCCAGGTGGC (p.Thr529=) c.2299_2311delinsACCTCCAGGTGGC (p.Thr767=) c.3277_3289delinsACCTCCAGGTGGC (p.Thr1093=) n.3095_3107delinsACCTCCAGGTGGC n.3303_3315delinsACCTCCAGGTGGC | |
| 1 | g.197435006C>A | CA344045980 | CRB1 | c.3143C>A (p.Thr1048Asn) c.2024C>A (p.Thr675Asn) c.1286C>A (p.Thr429Asn) c.2807C>A (p.Thr936Asn) c.3071C>A (p.Thr1024Asn) c.2129-594C>A (n.2129-594C>A) n.3144C>A n.3352C>A c.2561C>A (p.Thr854Asn) c.1586C>A (p.Thr529Asn) c.2300C>A (p.Thr767Asn) c.3278C>A (p.Thr1093Asn) n.3096C>A n.3304C>A | |
| 1 | g.197435006C>G | CA344045977 | CRB1 | c.3143C>G (p.Thr1048Ser) c.2024C>G (p.Thr675Ser) c.1286C>G (p.Thr429Ser) c.2807C>G (p.Thr936Ser) c.3071C>G (p.Thr1024Ser) c.2129-594C>G (n.2129-594C>G) n.3144C>G n.3352C>G c.2561C>G (p.Thr854Ser) c.1586C>G (p.Thr529Ser) c.2300C>G (p.Thr767Ser) c.3278C>G (p.Thr1093Ser) n.3096C>G n.3304C>G | |
| 1 | g.197435006C>T | CA344045972 | CRB1 | c.3143C>T (p.Thr1048Ile) c.2024C>T (p.Thr675Ile) c.1286C>T (p.Thr429Ile) c.2807C>T (p.Thr936Ile) c.3071C>T (p.Thr1024Ile) c.2129-594C>T (n.2129-594C>T) n.3144C>T n.3352C>T c.2561C>T (p.Thr854Ile) c.1586C>T (p.Thr529Ile) c.2300C>T (p.Thr767Ile) c.3278C>T (p.Thr1093Ile) n.3096C>T n.3304C>T | |
| 1 | g.197435007del | CA528535387 | CRB1 | c.3144del (p.Ser1049ProfsTer14) c.2025del (p.Ser676ProfsTer14) c.1287del (p.Ser430ProfsTer14) c.2808del (p.Ser937ProfsTer14) c.3072del (p.Ser1025ProfsTer14) c.2129-593del (n.2129-593del) n.3145del n.3353del c.2562del (p.Ser855ProfsTer14) c.1587del (p.Ser530ProfsTer14) c.2301del (p.Ser768ProfsTer14) c.3279del (p.Ser1094ProfsTer14) n.3097del n.3305del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197435006_197435017delinsA | CA1139656481 | CRB1 | c.3143_3154delinsA (p.Thr1048LysfsTer26) c.2024_2035delinsA (p.Thr675LysfsTer26) c.1286_1297delinsA (p.Thr429LysfsTer26) c.2807_2818delinsA (p.Thr936LysfsTer26) c.3071_3082delinsA (p.Thr1024LysfsTer26) c.2129-594_2129-583delinsA (n.2129-594_2129-583delinsA) n.3144_3155delinsA n.3352_3363delinsA c.2561_2572delinsA (p.Thr854LysfsTer26) c.1586_1597delinsA (p.Thr529LysfsTer26) c.2300_2311delinsA (p.Thr767LysfsTer26) c.3278_3289delinsA (p.Thr1093LysfsTer26) n.3096_3107delinsA n.3304_3315delinsA | ClinVar dbSNP |
| 1 | g.197435007C>A | CA422808892 | CRB1 | c.3144C>A (p.Thr1048=) c.2025C>A (p.Thr675=) c.1287C>A (p.Thr429=) c.2808C>A (p.Thr936=) c.3072C>A (p.Thr1024=) c.2129-593C>A (n.2129-593C>A) n.3145C>A n.3353C>A c.2562C>A (p.Thr854=) c.1587C>A (p.Thr529=) c.2301C>A (p.Thr767=) c.3279C>A (p.Thr1093=) n.3097C>A n.3305C>A | |
| 1 | g.197435007C>G | CA422808893 | CRB1 | c.3144C>G (p.Thr1048=) c.2025C>G (p.Thr675=) c.1287C>G (p.Thr429=) c.2808C>G (p.Thr936=) c.3072C>G (p.Thr1024=) c.2129-593C>G (n.2129-593C>G) n.3145C>G n.3353C>G c.2562C>G (p.Thr854=) c.1587C>G (p.Thr529=) c.2301C>G (p.Thr767=) c.3279C>G (p.Thr1093=) n.3097C>G n.3305C>G | gnomAD v4 |
| 1 | g.197435007C>T | CA422808894 | CRB1 | c.3144C>T (p.Thr1048=) c.2025C>T (p.Thr675=) c.1287C>T (p.Thr429=) c.2808C>T (p.Thr936=) c.3072C>T (p.Thr1024=) c.2129-593C>T (n.2129-593C>T) n.3145C>T n.3353C>T c.2562C>T (p.Thr854=) c.1587C>T (p.Thr529=) c.2301C>T (p.Thr767=) c.3279C>T (p.Thr1093=) n.3097C>T n.3305C>T | ClinVar dbSNP |
| 1 | g.197435008T>A | CA344045986 | CRB1 | c.3145T>A (p.Ser1049Thr) c.2026T>A (p.Ser676Thr) c.1288T>A (p.Ser430Thr) c.2809T>A (p.Ser937Thr) c.3073T>A (p.Ser1025Thr) c.2129-592T>A (n.2129-592T>A) n.3146T>A n.3354T>A c.2563T>A (p.Ser855Thr) c.1588T>A (p.Ser530Thr) c.2302T>A (p.Ser768Thr) c.3280T>A (p.Ser1094Thr) n.3098T>A n.3306T>A | |
| 1 | g.197435008T>C | CA344045988 | CRB1 | c.3145T>C (p.Ser1049Pro) c.2026T>C (p.Ser676Pro) c.1288T>C (p.Ser430Pro) c.2809T>C (p.Ser937Pro) c.3073T>C (p.Ser1025Pro) c.2129-592T>C (n.2129-592T>C) n.3146T>C n.3354T>C c.2563T>C (p.Ser855Pro) c.1588T>C (p.Ser530Pro) c.2302T>C (p.Ser768Pro) c.3280T>C (p.Ser1094Pro) n.3098T>C n.3306T>C | ClinVar |
| 1 | g.197435008T>G | CA344045990 | CRB1 | c.3145T>G (p.Ser1049Ala) c.2026T>G (p.Ser676Ala) c.1288T>G (p.Ser430Ala) c.2809T>G (p.Ser937Ala) c.3073T>G (p.Ser1025Ala) c.2129-592T>G (n.2129-592T>G) n.3146T>G n.3354T>G c.2563T>G (p.Ser855Ala) c.1588T>G (p.Ser530Ala) c.2302T>G (p.Ser768Ala) c.3280T>G (p.Ser1094Ala) n.3098T>G n.3306T>G | |
| 1 | g.197435009C>A | CA344045997 | CRB1 | c.3146C>A (p.Ser1049Tyr) c.2027C>A (p.Ser676Tyr) c.1289C>A (p.Ser430Tyr) c.2810C>A (p.Ser937Tyr) c.3074C>A (p.Ser1025Tyr) c.2129-591C>A (n.2129-591C>A) n.3147C>A n.3355C>A c.2564C>A (p.Ser855Tyr) c.1589C>A (p.Ser530Tyr) c.2303C>A (p.Ser768Tyr) c.3281C>A (p.Ser1094Tyr) n.3099C>A n.3307C>A | |
| 1 | g.197435009C= | CA1218068757 | CRB1 | c.3146C= (p.Ser1049=) c.2027C= (p.Ser676=) c.1289C= (p.Ser430=) c.2810C= (p.Ser937=) c.3074C= (p.Ser1025=) c.2129-591C= (n.2129-591C=) n.3147C= n.3355C= c.2564C= (p.Ser855=) c.1589C= (p.Ser530=) c.2303C= (p.Ser768=) c.3281C= (p.Ser1094=) n.3099C= n.3307C= | |
| 1 | g.197435009C>G | CA344046004 | CRB1 | c.3146C>G (p.Ser1049Cys) c.2027C>G (p.Ser676Cys) c.1289C>G (p.Ser430Cys) c.2810C>G (p.Ser937Cys) c.3074C>G (p.Ser1025Cys) c.2129-591C>G (n.2129-591C>G) n.3147C>G n.3355C>G c.2564C>G (p.Ser855Cys) c.1589C>G (p.Ser530Cys) c.2303C>G (p.Ser768Cys) c.3281C>G (p.Ser1094Cys) n.3099C>G n.3307C>G | ClinVar dbSNP gnomAD v4 |
| 1 | g.197435009C>T | CA344046022 | CRB1 | c.3146C>T (p.Ser1049Phe) c.2027C>T (p.Ser676Phe) c.1289C>T (p.Ser430Phe) c.2810C>T (p.Ser937Phe) c.3074C>T (p.Ser1025Phe) c.2129-591C>T (n.2129-591C>T) n.3147C>T n.3355C>T c.2564C>T (p.Ser855Phe) c.1589C>T (p.Ser530Phe) c.2303C>T (p.Ser768Phe) c.3281C>T (p.Ser1094Phe) n.3099C>T n.3307C>T | |
| 1 | g.197435010C>A | CA422809030 | CRB1 | c.3147C>A (p.Ser1049=) c.2028C>A (p.Ser676=) c.1290C>A (p.Ser430=) c.2811C>A (p.Ser937=) c.3075C>A (p.Ser1025=) c.2129-590C>A (n.2129-590C>A) n.3148C>A n.3356C>A c.2565C>A (p.Ser855=) c.1590C>A (p.Ser530=) c.2304C>A (p.Ser768=) c.3282C>A (p.Ser1094=) n.3100C>A n.3308C>A | |
| 1 | g.197435010C= | CA1218068758 | CRB1 | c.3147C= (p.Ser1049=) c.2028C= (p.Ser676=) c.1290C= (p.Ser430=) c.2811C= (p.Ser937=) c.3075C= (p.Ser1025=) c.2129-590C= (n.2129-590C=) n.3148C= n.3356C= c.2565C= (p.Ser855=) c.1590C= (p.Ser530=) c.2304C= (p.Ser768=) c.3282C= (p.Ser1094=) n.3100C= n.3308C= | |
| 1 | g.197435010C>G | CA422809032 | CRB1 | c.3147C>G (p.Ser1049=) c.2028C>G (p.Ser676=) c.1290C>G (p.Ser430=) c.2811C>G (p.Ser937=) c.3075C>G (p.Ser1025=) c.2129-590C>G (n.2129-590C>G) n.3148C>G n.3356C>G c.2565C>G (p.Ser855=) c.1590C>G (p.Ser530=) c.2304C>G (p.Ser768=) c.3282C>G (p.Ser1094=) n.3100C>G n.3308C>G | |
| 1 | g.197435010C>T | CA422809035 | CRB1 | c.3147C>T (p.Ser1049=) c.2028C>T (p.Ser676=) c.1290C>T (p.Ser430=) c.2811C>T (p.Ser937=) c.3075C>T (p.Ser1025=) c.2129-590C>T (n.2129-590C>T) n.3148C>T n.3356C>T c.2565C>T (p.Ser855=) c.1590C>T (p.Ser530=) c.2304C>T (p.Ser768=) c.3282C>T (p.Ser1094=) n.3100C>T n.3308C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197435011A= | CA1218068759 | CRB1 | c.3148A= (p.Arg1050=) c.2029A= (p.Arg677=) c.1291A= (p.Arg431=) c.2812A= (p.Arg938=) c.3076A= (p.Arg1026=) c.2129-589A= (n.2129-589A=) n.3149A= n.3357A= c.2566A= (p.Arg856=) c.1591A= (p.Arg531=) c.2305A= (p.Arg769=) c.3283A= (p.Arg1095=) n.3101A= n.3309A= | |
| 1 | g.197435011A>C | CA422809036 | CRB1 | c.3148A>C (p.Arg1050=) c.2029A>C (p.Arg677=) c.1291A>C (p.Arg431=) c.2812A>C (p.Arg938=) c.3076A>C (p.Arg1026=) c.2129-589A>C (n.2129-589A>C) n.3149A>C n.3357A>C c.2566A>C (p.Arg856=) c.1591A>C (p.Arg531=) c.2305A>C (p.Arg769=) c.3283A>C (p.Arg1095=) n.3101A>C n.3309A>C | |
| 1 | g.197435011A>G | CA344046025 | CRB1 | c.3148A>G (p.Arg1050Gly) c.2029A>G (p.Arg677Gly) c.1291A>G (p.Arg431Gly) c.2812A>G (p.Arg938Gly) c.3076A>G (p.Arg1026Gly) c.2129-589A>G (n.2129-589A>G) n.3149A>G n.3357A>G c.2566A>G (p.Arg856Gly) c.1591A>G (p.Arg531Gly) c.2305A>G (p.Arg769Gly) c.3283A>G (p.Arg1095Gly) n.3101A>G n.3309A>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197435011A>T | CA344046027 | CRB1 | c.3148A>T (p.Arg1050Trp) c.2029A>T (p.Arg677Trp) c.1291A>T (p.Arg431Trp) c.2812A>T (p.Arg938Trp) c.3076A>T (p.Arg1026Trp) c.2129-589A>T (n.2129-589A>T) n.3149A>T n.3357A>T c.2566A>T (p.Arg856Trp) c.1591A>T (p.Arg531Trp) c.2305A>T (p.Arg769Trp) c.3283A>T (p.Arg1095Trp) n.3101A>T n.3309A>T | |
| 1 | g.197435012G>A | CA344046031 | CRB1 | c.3149G>A (p.Arg1050Lys) c.2030G>A (p.Arg677Lys) c.1292G>A (p.Arg431Lys) c.2813G>A (p.Arg938Lys) c.3077G>A (p.Arg1026Lys) c.2129-588G>A (n.2129-588G>A) n.3150G>A n.3358G>A c.2567G>A (p.Arg856Lys) c.1592G>A (p.Arg531Lys) c.2306G>A (p.Arg769Lys) c.3284G>A (p.Arg1095Lys) n.3102G>A n.3310G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197435012G>C | CA344046036 | CRB1 | c.3149G>C (p.Arg1050Thr) c.2030G>C (p.Arg677Thr) c.1292G>C (p.Arg431Thr) c.2813G>C (p.Arg938Thr) c.3077G>C (p.Arg1026Thr) c.2129-588G>C (n.2129-588G>C) n.3150G>C n.3358G>C c.2567G>C (p.Arg856Thr) c.1592G>C (p.Arg531Thr) c.2306G>C (p.Arg769Thr) c.3284G>C (p.Arg1095Thr) n.3102G>C n.3310G>C | |
| 1 | g.197435012G= | CA1218068760 | CRB1 | c.3149G= (p.Arg1050=) c.2030G= (p.Arg677=) c.1292G= (p.Arg431=) c.2813G= (p.Arg938=) c.3077G= (p.Arg1026=) c.2129-588G= (n.2129-588G=) n.3150G= n.3358G= c.2567G= (p.Arg856=) c.1592G= (p.Arg531=) c.2306G= (p.Arg769=) c.3284G= (p.Arg1095=) n.3102G= n.3310G= | |
| 1 | g.197435012G>T | CA344046038 | CRB1 | c.3149G>T (p.Arg1050Met) c.2030G>T (p.Arg677Met) c.1292G>T (p.Arg431Met) c.2813G>T (p.Arg938Met) c.3077G>T (p.Arg1026Met) c.2129-588G>T (n.2129-588G>T) n.3150G>T n.3358G>T c.2567G>T (p.Arg856Met) c.1592G>T (p.Arg531Met) c.2306G>T (p.Arg769Met) c.3284G>T (p.Arg1095Met) n.3102G>T n.3310G>T | |
| 1 | g.197435013G>A | CA1312283 | CRB1 | c.3150G>A (p.Arg1050=) c.2031G>A (p.Arg677=) c.1293G>A (p.Arg431=) c.2814G>A (p.Arg938=) c.3078G>A (p.Arg1026=) c.2129-587G>A (n.2129-587G>A) n.3151G>A n.3359G>A c.2568G>A (p.Arg856=) c.1593G>A (p.Arg531=) c.2307G>A (p.Arg769=) c.3285G>A (p.Arg1095=) n.3103G>A n.3311G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197435013G>C | CA344046047 | CRB1 | c.3150G>C (p.Arg1050Ser) c.2031G>C (p.Arg677Ser) c.1293G>C (p.Arg431Ser) c.2814G>C (p.Arg938Ser) c.3078G>C (p.Arg1026Ser) c.2129-587G>C (n.2129-587G>C) n.3151G>C n.3359G>C c.2568G>C (p.Arg856Ser) c.1593G>C (p.Arg531Ser) c.2307G>C (p.Arg769Ser) c.3285G>C (p.Arg1095Ser) n.3103G>C n.3311G>C | |
| 1 | g.197435013G= | CA1218068761 | CRB1 | c.3150G= (p.Arg1050=) c.2031G= (p.Arg677=) c.1293G= (p.Arg431=) c.2814G= (p.Arg938=) c.3078G= (p.Arg1026=) c.2129-587G= (n.2129-587G=) n.3151G= n.3359G= c.2568G= (p.Arg856=) c.1593G= (p.Arg531=) c.2307G= (p.Arg769=) c.3285G= (p.Arg1095=) n.3103G= n.3311G= | |
| 1 | g.197435013G>T | CA344046041 | CRB1 | c.3150G>T (p.Arg1050Ser) c.2031G>T (p.Arg677Ser) c.1293G>T (p.Arg431Ser) c.2814G>T (p.Arg938Ser) c.3078G>T (p.Arg1026Ser) c.2129-587G>T (n.2129-587G>T) n.3151G>T n.3359G>T c.2568G>T (p.Arg856Ser) c.1593G>T (p.Arg531Ser) c.2307G>T (p.Arg769Ser) c.3285G>T (p.Arg1095Ser) n.3103G>T n.3311G>T | |
| 1 | g.197435014T>A | CA344046073 | CRB1 | c.3151T>A (p.Trp1051Arg) c.2032T>A (p.Trp678Arg) c.1294T>A (p.Trp432Arg) c.2815T>A (p.Trp939Arg) c.3079T>A (p.Trp1027Arg) c.2129-586T>A (n.2129-586T>A) n.3152T>A n.3360T>A c.2569T>A (p.Trp857Arg) c.1594T>A (p.Trp532Arg) c.2308T>A (p.Trp770Arg) c.3286T>A (p.Trp1096Arg) n.3104T>A n.3312T>A | |
| 1 | g.197435014T>C | CA344046079 | CRB1 | c.3151T>C (p.Trp1051Arg) c.2032T>C (p.Trp678Arg) c.1294T>C (p.Trp432Arg) c.2815T>C (p.Trp939Arg) c.3079T>C (p.Trp1027Arg) c.2129-586T>C (n.2129-586T>C) n.3152T>C n.3360T>C c.2569T>C (p.Trp857Arg) c.1594T>C (p.Trp532Arg) c.2308T>C (p.Trp770Arg) c.3286T>C (p.Trp1096Arg) n.3104T>C n.3312T>C | |
| 1 | g.197435014T>G | CA344046081 | CRB1 | c.3151T>G (p.Trp1051Gly) c.2032T>G (p.Trp678Gly) c.1294T>G (p.Trp432Gly) c.2815T>G (p.Trp939Gly) c.3079T>G (p.Trp1027Gly) c.2129-586T>G (n.2129-586T>G) n.3152T>G n.3360T>G c.2569T>G (p.Trp857Gly) c.1594T>G (p.Trp532Gly) c.2308T>G (p.Trp770Gly) c.3286T>G (p.Trp1096Gly) n.3104T>G n.3312T>G | |
| 1 | g.197435015G>A | CA344046087 | CRB1 | c.3152G>A (p.Trp1051Ter) c.2033G>A (p.Trp678Ter) c.1295G>A (p.Trp432Ter) c.2816G>A (p.Trp939Ter) c.3080G>A (p.Trp1027Ter) c.2129-585G>A (n.2129-585G>A) n.3153G>A n.3361G>A c.2570G>A (p.Trp857Ter) c.1595G>A (p.Trp532Ter) c.2309G>A (p.Trp770Ter) c.3287G>A (p.Trp1096Ter) n.3105G>A n.3313G>A | ClinVar dbSNP gnomAD v4 |
| 1 | g.197435015G>C | CA344046092 | CRB1 | c.3152G>C (p.Trp1051Ser) c.2033G>C (p.Trp678Ser) c.1295G>C (p.Trp432Ser) c.2816G>C (p.Trp939Ser) c.3080G>C (p.Trp1027Ser) c.2129-585G>C (n.2129-585G>C) n.3153G>C n.3361G>C c.2570G>C (p.Trp857Ser) c.1595G>C (p.Trp532Ser) c.2309G>C (p.Trp770Ser) c.3287G>C (p.Trp1096Ser) n.3105G>C n.3313G>C | gnomAD v4 |
| 1 | g.197435015G= | CA1218068762 | CRB1 | c.3152G= (p.Trp1051=) c.2033G= (p.Trp678=) c.1295G= (p.Trp432=) c.2816G= (p.Trp939=) c.3080G= (p.Trp1027=) c.2129-585G= (n.2129-585G=) n.3153G= n.3361G= c.2570G= (p.Trp857=) c.1595G= (p.Trp532=) c.2309G= (p.Trp770=) c.3287G= (p.Trp1096=) n.3105G= n.3313G= | |
| 1 | g.197435015G>T | CA344046096 | CRB1 | c.3152G>T (p.Trp1051Leu) c.2033G>T (p.Trp678Leu) c.1295G>T (p.Trp432Leu) c.2816G>T (p.Trp939Leu) c.3080G>T (p.Trp1027Leu) c.2129-585G>T (n.2129-585G>T) n.3153G>T n.3361G>T c.2570G>T (p.Trp857Leu) c.1595G>T (p.Trp532Leu) c.2309G>T (p.Trp770Leu) c.3287G>T (p.Trp1096Leu) n.3105G>T n.3313G>T | |
| 1 | g.197435016G>A | CA344046113 | CRB1 | c.3153G>A (p.Trp1051Ter) c.2034G>A (p.Trp678Ter) c.1296G>A (p.Trp432Ter) c.2817G>A (p.Trp939Ter) c.3081G>A (p.Trp1027Ter) c.2129-584G>A (n.2129-584G>A) n.3154G>A n.3362G>A c.2571G>A (p.Trp857Ter) c.1596G>A (p.Trp532Ter) c.2310G>A (p.Trp770Ter) c.3288G>A (p.Trp1096Ter) n.3106G>A n.3314G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197435016G>C | CA344046125 | CRB1 | c.3153G>C (p.Trp1051Cys) c.2034G>C (p.Trp678Cys) c.1296G>C (p.Trp432Cys) c.2817G>C (p.Trp939Cys) c.3081G>C (p.Trp1027Cys) c.2129-584G>C (n.2129-584G>C) n.3154G>C n.3362G>C c.2571G>C (p.Trp857Cys) c.1596G>C (p.Trp532Cys) c.2310G>C (p.Trp770Cys) c.3288G>C (p.Trp1096Cys) n.3106G>C n.3314G>C | |
| 1 | g.197435016G= | CA1218068763 | CRB1 | c.3153G= (p.Trp1051=) c.2034G= (p.Trp678=) c.1296G= (p.Trp432=) c.2817G= (p.Trp939=) c.3081G= (p.Trp1027=) c.2129-584G= (n.2129-584G=) n.3154G= n.3362G= c.2571G= (p.Trp857=) c.1596G= (p.Trp532=) c.2310G= (p.Trp770=) c.3288G= (p.Trp1096=) n.3106G= n.3314G= | |
| 1 | g.197435016G>T | CA344046127 | CRB1 | c.3153G>T (p.Trp1051Cys) c.2034G>T (p.Trp678Cys) c.1296G>T (p.Trp432Cys) c.2817G>T (p.Trp939Cys) c.3081G>T (p.Trp1027Cys) c.2129-584G>T (n.2129-584G>T) n.3154G>T n.3362G>T c.2571G>T (p.Trp857Cys) c.1596G>T (p.Trp532Cys) c.2310G>T (p.Trp770Cys) c.3288G>T (p.Trp1096Cys) n.3106G>T n.3314G>T | |
| 1 | g.197435017C>A | CA344046138 | CRB1 | c.3154C>A (p.Gln1052Lys) c.2035C>A (p.Gln679Lys) c.1297C>A (p.Gln433Lys) c.2818C>A (p.Gln940Lys) c.3082C>A (p.Gln1028Lys) c.2129-583C>A (n.2129-583C>A) n.3155C>A n.3363C>A c.2572C>A (p.Gln858Lys) c.1597C>A (p.Gln533Lys) c.2311C>A (p.Gln771Lys) c.3289C>A (p.Gln1097Lys) n.3107C>A n.3315C>A | |
| 1 | g.197435017C>G | CA344046141 | CRB1 | c.3154C>G (p.Gln1052Glu) c.2035C>G (p.Gln679Glu) c.1297C>G (p.Gln433Glu) c.2818C>G (p.Gln940Glu) c.3082C>G (p.Gln1028Glu) c.2129-583C>G (n.2129-583C>G) n.3155C>G n.3363C>G c.2572C>G (p.Gln858Glu) c.1597C>G (p.Gln533Glu) c.2311C>G (p.Gln771Glu) c.3289C>G (p.Gln1097Glu) n.3107C>G n.3315C>G | |
| 1 | g.197435017C>T | CA344046145 | CRB1 | c.3154C>T (p.Gln1052Ter) c.2035C>T (p.Gln679Ter) c.1297C>T (p.Gln433Ter) c.2818C>T (p.Gln940Ter) c.3082C>T (p.Gln1028Ter) c.2129-583C>T (n.2129-583C>T) n.3155C>T n.3363C>T c.2572C>T (p.Gln858Ter) c.1597C>T (p.Gln533Ter) c.2311C>T (p.Gln771Ter) c.3289C>T (p.Gln1097Ter) n.3107C>T n.3315C>T | |
| 1 | g.197435018A= | CA1142076694 | CRB1 | c.3155A= (p.Gln1052=) c.2036A= (p.Gln679=) c.1298A= (p.Gln433=) c.2819A= (p.Gln940=) c.3083A= (p.Gln1028=) c.2129-582A= (n.2129-582A=) n.3156A= n.3364A= c.2573A= (p.Gln858=) c.1598A= (p.Gln533=) c.2312A= (p.Gln771=) c.3290A= (p.Gln1097=) n.3108A= n.3316A= | |
| 1 | g.197435018A>C | CA344046167 | CRB1 | c.3155A>C (p.Gln1052Pro) c.2036A>C (p.Gln679Pro) c.1298A>C (p.Gln433Pro) c.2819A>C (p.Gln940Pro) c.3083A>C (p.Gln1028Pro) c.2129-582A>C (n.2129-582A>C) n.3156A>C n.3364A>C c.2573A>C (p.Gln858Pro) c.1598A>C (p.Gln533Pro) c.2312A>C (p.Gln771Pro) c.3290A>C (p.Gln1097Pro) n.3108A>C n.3316A>C | |
| 1 | g.197435018A>G | CA35907060 | CRB1 | c.3155A>G (p.Gln1052Arg) c.2036A>G (p.Gln679Arg) c.1298A>G (p.Gln433Arg) c.2819A>G (p.Gln940Arg) c.3083A>G (p.Gln1028Arg) c.2129-582A>G (n.2129-582A>G) n.3156A>G n.3364A>G c.2573A>G (p.Gln858Arg) c.1598A>G (p.Gln533Arg) c.2312A>G (p.Gln771Arg) c.3290A>G (p.Gln1097Arg) n.3108A>G n.3316A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197435018A>T | CA344046151 | CRB1 | c.3155A>T (p.Gln1052Leu) c.2036A>T (p.Gln679Leu) c.1298A>T (p.Gln433Leu) c.2819A>T (p.Gln940Leu) c.3083A>T (p.Gln1028Leu) c.2129-582A>T (n.2129-582A>T) n.3156A>T n.3364A>T c.2573A>T (p.Gln858Leu) c.1598A>T (p.Gln533Leu) c.2312A>T (p.Gln771Leu) c.3290A>T (p.Gln1097Leu) n.3108A>T n.3316A>T | |
| 1 | g.197435019A>C | CA344046169 | CRB1 | c.3156A>C (p.Gln1052His) c.2037A>C (p.Gln679His) c.1299A>C (p.Gln433His) c.2820A>C (p.Gln940His) c.3084A>C (p.Gln1028His) c.2129-581A>C (n.2129-581A>C) n.3157A>C n.3365A>C c.2574A>C (p.Gln858His) c.1599A>C (p.Gln533His) c.2313A>C (p.Gln771His) c.3291A>C (p.Gln1097His) n.3109A>C n.3317A>C | |
| 1 | g.197435019A>G | CA422809049 | CRB1 | c.3156A>G (p.Gln1052=) c.2037A>G (p.Gln679=) c.1299A>G (p.Gln433=) c.2820A>G (p.Gln940=) c.3084A>G (p.Gln1028=) c.2129-581A>G (n.2129-581A>G) n.3157A>G n.3365A>G c.2574A>G (p.Gln858=) c.1599A>G (p.Gln533=) c.2313A>G (p.Gln771=) c.3291A>G (p.Gln1097=) n.3109A>G n.3317A>G | |
| 1 | g.197435019A>T | CA344046175 | CRB1 | c.3156A>T (p.Gln1052His) c.2037A>T (p.Gln679His) c.1299A>T (p.Gln433His) c.2820A>T (p.Gln940His) c.3084A>T (p.Gln1028His) c.2129-581A>T (n.2129-581A>T) n.3157A>T n.3365A>T c.2574A>T (p.Gln858His) c.1599A>T (p.Gln533His) c.2313A>T (p.Gln771His) c.3291A>T (p.Gln1097His) n.3109A>T n.3317A>T | |
| 1 | g.197435020A= | CA1218068764 | CRB1 | c.3157A= (p.Met1053=) c.2038A= (p.Met680=) c.1300A= (p.Met434=) c.2821A= (p.Met941=) c.3085A= (p.Met1029=) c.2129-580A= (n.2129-580A=) n.3158A= n.3366A= c.2575A= (p.Met859=) c.1600A= (p.Met534=) c.2314A= (p.Met772=) c.3292A= (p.Met1098=) n.3110A= n.3318A= | |
| 1 | g.197435020A>C | CA344046186 | CRB1 | c.3157A>C (p.Met1053Leu) c.2038A>C (p.Met680Leu) c.1300A>C (p.Met434Leu) c.2821A>C (p.Met941Leu) c.3085A>C (p.Met1029Leu) c.2129-580A>C (n.2129-580A>C) n.3158A>C n.3366A>C c.2575A>C (p.Met859Leu) c.1600A>C (p.Met534Leu) c.2314A>C (p.Met772Leu) c.3292A>C (p.Met1098Leu) n.3110A>C n.3318A>C | |
| 1 | g.197435020A>G | CA1312284 | CRB1 | c.3157A>G (p.Met1053Val) c.2038A>G (p.Met680Val) c.1300A>G (p.Met434Val) c.2821A>G (p.Met941Val) c.3085A>G (p.Met1029Val) c.2129-580A>G (n.2129-580A>G) n.3158A>G n.3366A>G c.2575A>G (p.Met859Val) c.1600A>G (p.Met534Val) c.2314A>G (p.Met772Val) c.3292A>G (p.Met1098Val) n.3110A>G n.3318A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197435020A>T | CA344046188 | CRB1 | c.3157A>T (p.Met1053Leu) c.2038A>T (p.Met680Leu) c.1300A>T (p.Met434Leu) c.2821A>T (p.Met941Leu) c.3085A>T (p.Met1029Leu) c.2129-580A>T (n.2129-580A>T) n.3158A>T n.3366A>T c.2575A>T (p.Met859Leu) c.1600A>T (p.Met534Leu) c.2314A>T (p.Met772Leu) c.3292A>T (p.Met1098Leu) n.3110A>T n.3318A>T | |
| 1 | g.197435021T>A | CA344046192 | CRB1 | c.3158T>A (p.Met1053Lys) c.2039T>A (p.Met680Lys) c.1301T>A (p.Met434Lys) c.2822T>A (p.Met941Lys) c.3086T>A (p.Met1029Lys) c.2129-579T>A (n.2129-579T>A) n.3159T>A n.3367T>A c.2576T>A (p.Met859Lys) c.1601T>A (p.Met534Lys) c.2315T>A (p.Met772Lys) c.3293T>A (p.Met1098Lys) n.3111T>A n.3319T>A | |
| 1 | g.197435021T>C | CA344046193 | CRB1 | c.3158T>C (p.Met1053Thr) c.2039T>C (p.Met680Thr) c.1301T>C (p.Met434Thr) c.2822T>C (p.Met941Thr) c.3086T>C (p.Met1029Thr) c.2129-579T>C (n.2129-579T>C) n.3159T>C n.3367T>C c.2576T>C (p.Met859Thr) c.1601T>C (p.Met534Thr) c.2315T>C (p.Met772Thr) c.3293T>C (p.Met1098Thr) n.3111T>C n.3319T>C | gnomAD v4 |
| 1 | g.197435021T>G | CA344046195 | CRB1 | c.3158T>G (p.Met1053Arg) c.2039T>G (p.Met680Arg) c.1301T>G (p.Met434Arg) c.2822T>G (p.Met941Arg) c.3086T>G (p.Met1029Arg) c.2129-579T>G (n.2129-579T>G) n.3159T>G n.3367T>G c.2576T>G (p.Met859Arg) c.1601T>G (p.Met534Arg) c.2315T>G (p.Met772Arg) c.3293T>G (p.Met1098Arg) n.3111T>G n.3319T>G | |
| 1 | g.197435022G>A | CA344046197 | CRB1 | c.3159G>A (p.Met1053Ile) c.2040G>A (p.Met680Ile) c.1302G>A (p.Met434Ile) c.2823G>A (p.Met941Ile) c.3087G>A (p.Met1029Ile) c.2129-578G>A (n.2129-578G>A) n.3160G>A n.3368G>A c.2577G>A (p.Met859Ile) c.1602G>A (p.Met534Ile) c.2316G>A (p.Met772Ile) c.3294G>A (p.Met1098Ile) n.3112G>A n.3320G>A | |
| 1 | g.197435022G>C | CA344046199 | CRB1 | c.3159G>C (p.Met1053Ile) c.2040G>C (p.Met680Ile) c.1302G>C (p.Met434Ile) c.2823G>C (p.Met941Ile) c.3087G>C (p.Met1029Ile) c.2129-578G>C (n.2129-578G>C) n.3160G>C n.3368G>C c.2577G>C (p.Met859Ile) c.1602G>C (p.Met534Ile) c.2316G>C (p.Met772Ile) c.3294G>C (p.Met1098Ile) n.3112G>C n.3320G>C | |
| 1 | g.197435022G>T | CA344046201 | CRB1 | c.3159G>T (p.Met1053Ile) c.2040G>T (p.Met680Ile) c.1302G>T (p.Met434Ile) c.2823G>T (p.Met941Ile) c.3087G>T (p.Met1029Ile) c.2129-578G>T (n.2129-578G>T) n.3160G>T n.3368G>T c.2577G>T (p.Met859Ile) c.1602G>T (p.Met534Ile) c.2316G>T (p.Met772Ile) c.3294G>T (p.Met1098Ile) n.3112G>T n.3320G>T | gnomAD v4 |
| 1 | g.197435023G>A | CA344046206 | CRB1 | c.3160G>A (p.Glu1054Lys) c.2041G>A (p.Glu681Lys) c.1303G>A (p.Glu435Lys) c.2824G>A (p.Glu942Lys) c.3088G>A (p.Glu1030Lys) c.2129-577G>A (n.2129-577G>A) n.3161G>A n.3369G>A c.2578G>A (p.Glu860Lys) c.1603G>A (p.Glu535Lys) c.2317G>A (p.Glu773Lys) c.3295G>A (p.Glu1099Lys) n.3113G>A n.3321G>A | |
| 1 | g.197435023G>C | CA35907069 | CRB1 | c.3160G>C (p.Glu1054Gln) c.2041G>C (p.Glu681Gln) c.1303G>C (p.Glu435Gln) c.2824G>C (p.Glu942Gln) c.3088G>C (p.Glu1030Gln) c.2129-577G>C (n.2129-577G>C) n.3161G>C n.3369G>C c.2578G>C (p.Glu860Gln) c.1603G>C (p.Glu535Gln) c.2317G>C (p.Glu773Gln) c.3295G>C (p.Glu1099Gln) n.3113G>C n.3321G>C | dbSNP |
| 1 | g.197435023G= | CA1218068765 | CRB1 | c.3160G= (p.Glu1054=) c.2041G= (p.Glu681=) c.1303G= (p.Glu435=) c.2824G= (p.Glu942=) c.3088G= (p.Glu1030=) c.2129-577G= (n.2129-577G=) n.3161G= n.3369G= c.2578G= (p.Glu860=) c.1603G= (p.Glu535=) c.2317G= (p.Glu773=) c.3295G= (p.Glu1099=) n.3113G= n.3321G= | |
| 1 | g.197435023G>T | CA344046203 | CRB1 | c.3160G>T (p.Glu1054Ter) c.2041G>T (p.Glu681Ter) c.1303G>T (p.Glu435Ter) c.2824G>T (p.Glu942Ter) c.3088G>T (p.Glu1030Ter) c.2129-577G>T (n.2129-577G>T) n.3161G>T n.3369G>T c.2578G>T (p.Glu860Ter) c.1603G>T (p.Glu535Ter) c.2317G>T (p.Glu773Ter) c.3295G>T (p.Glu1099Ter) n.3113G>T n.3321G>T | |
| 1 | g.197435024A= | CA1218068766 | CRB1 | c.3161A= (p.Glu1054=) c.2042A= (p.Glu681=) c.1304A= (p.Glu435=) c.2825A= (p.Glu942=) c.3089A= (p.Glu1030=) c.2129-576A= (n.2129-576A=) n.3162A= n.3370A= c.2579A= (p.Glu860=) c.1604A= (p.Glu535=) c.2318A= (p.Glu773=) c.3296A= (p.Glu1099=) n.3114A= n.3322A= | |
| 1 | g.197435024A>C | CA344046209 | CRB1 | c.3161A>C (p.Glu1054Ala) c.2042A>C (p.Glu681Ala) c.1304A>C (p.Glu435Ala) c.2825A>C (p.Glu942Ala) c.3089A>C (p.Glu1030Ala) c.2129-576A>C (n.2129-576A>C) n.3162A>C n.3370A>C c.2579A>C (p.Glu860Ala) c.1604A>C (p.Glu535Ala) c.2318A>C (p.Glu773Ala) c.3296A>C (p.Glu1099Ala) n.3114A>C n.3322A>C | |
| 1 | g.197435024A>G | CA344046225 | CRB1 | c.3161A>G (p.Glu1054Gly) c.2042A>G (p.Glu681Gly) c.1304A>G (p.Glu435Gly) c.2825A>G (p.Glu942Gly) c.3089A>G (p.Glu1030Gly) c.2129-576A>G (n.2129-576A>G) n.3162A>G n.3370A>G c.2579A>G (p.Glu860Gly) c.1604A>G (p.Glu535Gly) c.2318A>G (p.Glu773Gly) c.3296A>G (p.Glu1099Gly) n.3114A>G n.3322A>G | |
| 1 | g.197435024A>T | CA35907081 | CRB1 | c.3161A>T (p.Glu1054Val) c.2042A>T (p.Glu681Val) c.1304A>T (p.Glu435Val) c.2825A>T (p.Glu942Val) c.3089A>T (p.Glu1030Val) c.2129-576A>T (n.2129-576A>T) n.3162A>T n.3370A>T c.2579A>T (p.Glu860Val) c.1604A>T (p.Glu535Val) c.2318A>T (p.Glu773Val) c.3296A>T (p.Glu1099Val) n.3114A>T n.3322A>T | dbSNP gnomAD v4 |
| 1 | g.197435025A>C | CA344046229 | CRB1 | c.3162A>C (p.Glu1054Asp) c.2043A>C (p.Glu681Asp) c.1305A>C (p.Glu435Asp) c.2826A>C (p.Glu942Asp) c.3090A>C (p.Glu1030Asp) c.2129-575A>C (n.2129-575A>C) n.3163A>C n.3371A>C c.2580A>C (p.Glu860Asp) c.1605A>C (p.Glu535Asp) c.2319A>C (p.Glu773Asp) c.3297A>C (p.Glu1099Asp) n.3115A>C n.3323A>C | |
| 1 | g.197435025A>G | CA422809067 | CRB1 | c.3162A>G (p.Glu1054=) c.2043A>G (p.Glu681=) c.1305A>G (p.Glu435=) c.2826A>G (p.Glu942=) c.3090A>G (p.Glu1030=) c.2129-575A>G (n.2129-575A>G) n.3163A>G n.3371A>G c.2580A>G (p.Glu860=) c.1605A>G (p.Glu535=) c.2319A>G (p.Glu773=) c.3297A>G (p.Glu1099=) n.3115A>G n.3323A>G | |
| 1 | g.197435025A>T | CA344046230 | CRB1 | c.3162A>T (p.Glu1054Asp) c.2043A>T (p.Glu681Asp) c.1305A>T (p.Glu435Asp) c.2826A>T (p.Glu942Asp) c.3090A>T (p.Glu1030Asp) c.2129-575A>T (n.2129-575A>T) n.3163A>T n.3371A>T c.2580A>T (p.Glu860Asp) c.1605A>T (p.Glu535Asp) c.2319A>T (p.Glu773Asp) c.3297A>T (p.Glu1099Asp) n.3115A>T n.3323A>T | |
| 1 | g.197435026G>A | CA344046232 | CRB1 | c.3163G>A (p.Val1055Met) c.2044G>A (p.Val682Met) c.1306G>A (p.Val436Met) c.2827G>A (p.Val943Met) c.3091G>A (p.Val1031Met) c.2129-574G>A (n.2129-574G>A) n.3164G>A n.3372G>A c.2581G>A (p.Val861Met) c.1606G>A (p.Val536Met) c.2320G>A (p.Val774Met) c.3298G>A (p.Val1100Met) n.3116G>A n.3324G>A | |
| 1 | g.197435026G>C | CA344046235 | CRB1 | c.3163G>C (p.Val1055Leu) c.2044G>C (p.Val682Leu) c.1306G>C (p.Val436Leu) c.2827G>C (p.Val943Leu) c.3091G>C (p.Val1031Leu) c.2129-574G>C (n.2129-574G>C) n.3164G>C n.3372G>C c.2581G>C (p.Val861Leu) c.1606G>C (p.Val536Leu) c.2320G>C (p.Val774Leu) c.3298G>C (p.Val1100Leu) n.3116G>C n.3324G>C | ClinVar |
| 1 | g.197435026G>T | CA344046243 | CRB1 | c.3163G>T (p.Val1055Leu) c.2044G>T (p.Val682Leu) c.1306G>T (p.Val436Leu) c.2827G>T (p.Val943Leu) c.3091G>T (p.Val1031Leu) c.2129-574G>T (n.2129-574G>T) n.3164G>T n.3372G>T c.2581G>T (p.Val861Leu) c.1606G>T (p.Val536Leu) c.2320G>T (p.Val774Leu) c.3298G>T (p.Val1100Leu) n.3116G>T n.3324G>T | |
| 1 | g.197435027T>A | CA344046256 | CRB1 | c.3164T>A (p.Val1055Glu) c.2045T>A (p.Val682Glu) c.1307T>A (p.Val436Glu) c.2828T>A (p.Val943Glu) c.3092T>A (p.Val1031Glu) c.2129-573T>A (n.2129-573T>A) n.3165T>A n.3373T>A c.2582T>A (p.Val861Glu) c.1607T>A (p.Val536Glu) c.2321T>A (p.Val774Glu) c.3299T>A (p.Val1100Glu) n.3117T>A n.3325T>A | ClinVar dbSNP |
| 1 | g.197435027T>C | CA344046257 | CRB1 | c.3164T>C (p.Val1055Ala) c.2045T>C (p.Val682Ala) c.1307T>C (p.Val436Ala) c.2828T>C (p.Val943Ala) c.3092T>C (p.Val1031Ala) c.2129-573T>C (n.2129-573T>C) n.3165T>C n.3373T>C c.2582T>C (p.Val861Ala) c.1607T>C (p.Val536Ala) c.2321T>C (p.Val774Ala) c.3299T>C (p.Val1100Ala) n.3117T>C n.3325T>C | |
| 1 | g.197435027T>G | CA344046260 | CRB1 | c.3164T>G (p.Val1055Gly) c.2045T>G (p.Val682Gly) c.1307T>G (p.Val436Gly) c.2828T>G (p.Val943Gly) c.3092T>G (p.Val1031Gly) c.2129-573T>G (n.2129-573T>G) n.3165T>G n.3373T>G c.2582T>G (p.Val861Gly) c.1607T>G (p.Val536Gly) c.2321T>G (p.Val774Gly) c.3299T>G (p.Val1100Gly) n.3117T>G n.3325T>G | |
| 1 | g.197435027T= | CA1218068767 | CRB1 | c.3164T= (p.Val1055=) c.2045T= (p.Val682=) c.1307T= (p.Val436=) c.2828T= (p.Val943=) c.3092T= (p.Val1031=) c.2129-573T= (n.2129-573T=) n.3165T= n.3373T= c.2582T= (p.Val861=) c.1607T= (p.Val536=) c.2321T= (p.Val774=) c.3299T= (p.Val1100=) n.3117T= n.3325T= | |
| 1 | g.197435028G>A | CA422809073 | CRB1 | c.3165G>A (p.Val1055=) c.2046G>A (p.Val682=) c.1308G>A (p.Val436=) c.2829G>A (p.Val943=) c.3093G>A (p.Val1031=) c.2129-572G>A (n.2129-572G>A) n.3166G>A n.3374G>A c.2583G>A (p.Val861=) c.1608G>A (p.Val536=) c.2322G>A (p.Val774=) c.3300G>A (p.Val1100=) n.3118G>A n.3326G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197435028G>C | CA422809075 | CRB1 | c.3165G>C (p.Val1055=) c.2046G>C (p.Val682=) c.1308G>C (p.Val436=) c.2829G>C (p.Val943=) c.3093G>C (p.Val1031=) c.2129-572G>C (n.2129-572G>C) n.3166G>C n.3374G>C c.2583G>C (p.Val861=) c.1608G>C (p.Val536=) c.2322G>C (p.Val774=) c.3300G>C (p.Val1100=) n.3118G>C n.3326G>C | |
| 1 | g.197435028G= | CA1218068768 | CRB1 | c.3165G= (p.Val1055=) c.2046G= (p.Val682=) c.1308G= (p.Val436=) c.2829G= (p.Val943=) c.3093G= (p.Val1031=) c.2129-572G= (n.2129-572G=) n.3166G= n.3374G= c.2583G= (p.Val861=) c.1608G= (p.Val536=) c.2322G= (p.Val774=) c.3300G= (p.Val1100=) n.3118G= n.3326G= | |
| 1 | g.197435028G>T | CA422809077 | CRB1 | c.3165G>T (p.Val1055=) c.2046G>T (p.Val682=) c.1308G>T (p.Val436=) c.2829G>T (p.Val943=) c.3093G>T (p.Val1031=) c.2129-572G>T (n.2129-572G>T) n.3166G>T n.3374G>T c.2583G>T (p.Val861=) c.1608G>T (p.Val536=) c.2322G>T (p.Val774=) c.3300G>T (p.Val1100=) n.3118G>T n.3326G>T | |
| 1 | g.197435029G>A | CA344046264 | CRB1 | c.3166G>A (p.Asp1056Asn) c.2047G>A (p.Asp683Asn) c.1309G>A (p.Asp437Asn) c.2830G>A (p.Asp944Asn) c.3094G>A (p.Asp1032Asn) c.2129-571G>A (n.2129-571G>A) n.3167G>A n.3375G>A c.2584G>A (p.Asp862Asn) c.1609G>A (p.Asp537Asn) c.2323G>A (p.Asp775Asn) c.3301G>A (p.Asp1101Asn) n.3119G>A n.3327G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.197435029G>C | CA344046268 | CRB1 | c.3166G>C (p.Asp1056His) c.2047G>C (p.Asp683His) c.1309G>C (p.Asp437His) c.2830G>C (p.Asp944His) c.3094G>C (p.Asp1032His) c.2129-571G>C (n.2129-571G>C) n.3167G>C n.3375G>C c.2584G>C (p.Asp862His) c.1609G>C (p.Asp537His) c.2323G>C (p.Asp775His) c.3301G>C (p.Asp1101His) n.3119G>C n.3327G>C | ClinVar |
| 1 | g.197435029G= | CA1148224938 | CRB1 | c.3166G= (p.Asp1056=) c.2047G= (p.Asp683=) c.1309G= (p.Asp437=) c.2830G= (p.Asp944=) c.3094G= (p.Asp1032=) c.2129-571G= (n.2129-571G=) n.3167G= n.3375G= c.2584G= (p.Asp862=) c.1609G= (p.Asp537=) c.2323G= (p.Asp775=) c.3301G= (p.Asp1101=) n.3119G= n.3327G= | |
| 1 | g.197435029G>T | CA233863 | CRB1 | c.3166G>T (p.Asp1056Tyr) c.2047G>T (p.Asp683Tyr) c.1309G>T (p.Asp437Tyr) c.2830G>T (p.Asp944Tyr) c.3094G>T (p.Asp1032Tyr) c.2129-571G>T (n.2129-571G>T) n.3167G>T n.3375G>T c.2584G>T (p.Asp862Tyr) c.1609G>T (p.Asp537Tyr) c.2323G>T (p.Asp775Tyr) c.3301G>T (p.Asp1101Tyr) n.3119G>T n.3327G>T | ClinVar dbSNP |
| 1 | g.197435030A>C | CA344046282 | CRB1 | c.3167A>C (p.Asp1056Ala) c.2048A>C (p.Asp683Ala) c.1310A>C (p.Asp437Ala) c.2831A>C (p.Asp944Ala) c.3095A>C (p.Asp1032Ala) c.2129-570A>C (n.2129-570A>C) n.3168A>C n.3376A>C c.2585A>C (p.Asp862Ala) c.1610A>C (p.Asp537Ala) c.2324A>C (p.Asp775Ala) c.3302A>C (p.Asp1101Ala) n.3120A>C n.3328A>C | gnomAD v4 |
| 1 | g.197435030A>G | CA344046290 | CRB1 | c.3167A>G (p.Asp1056Gly) c.2048A>G (p.Asp683Gly) c.1310A>G (p.Asp437Gly) c.2831A>G (p.Asp944Gly) c.3095A>G (p.Asp1032Gly) c.2129-570A>G (n.2129-570A>G) n.3168A>G n.3376A>G c.2585A>G (p.Asp862Gly) c.1610A>G (p.Asp537Gly) c.2324A>G (p.Asp775Gly) c.3302A>G (p.Asp1101Gly) n.3120A>G n.3328A>G | |
| 1 | g.197435030A>T | CA344046293 | CRB1 | c.3167A>T (p.Asp1056Val) c.2048A>T (p.Asp683Val) c.1310A>T (p.Asp437Val) c.2831A>T (p.Asp944Val) c.3095A>T (p.Asp1032Val) c.2129-570A>T (n.2129-570A>T) n.3168A>T n.3376A>T c.2585A>T (p.Asp862Val) c.1610A>T (p.Asp537Val) c.2324A>T (p.Asp775Val) c.3302A>T (p.Asp1101Val) n.3120A>T n.3328A>T | |
| 1 | g.197435031C>A | CA344046294 | CRB1 | c.3168C>A (p.Asp1056Glu) c.2049C>A (p.Asp683Glu) c.1311C>A (p.Asp437Glu) c.2832C>A (p.Asp944Glu) c.3096C>A (p.Asp1032Glu) c.2129-569C>A (n.2129-569C>A) n.3169C>A n.3377C>A c.2586C>A (p.Asp862Glu) c.1611C>A (p.Asp537Glu) c.2325C>A (p.Asp775Glu) c.3303C>A (p.Asp1101Glu) n.3121C>A n.3329C>A | gnomAD v4 |
| 1 | g.197435031C= | CA1218068769 | CRB1 | c.3168C= (p.Asp1056=) c.2049C= (p.Asp683=) c.1311C= (p.Asp437=) c.2832C= (p.Asp944=) c.3096C= (p.Asp1032=) c.2129-569C= (n.2129-569C=) n.3169C= n.3377C= c.2586C= (p.Asp862=) c.1611C= (p.Asp537=) c.2325C= (p.Asp775=) c.3303C= (p.Asp1101=) n.3121C= n.3329C= | |
| 1 | g.197435031C>G | CA344046295 | CRB1 | c.3168C>G (p.Asp1056Glu) c.2049C>G (p.Asp683Glu) c.1311C>G (p.Asp437Glu) c.2832C>G (p.Asp944Glu) c.3096C>G (p.Asp1032Glu) c.2129-569C>G (n.2129-569C>G) n.3169C>G n.3377C>G c.2586C>G (p.Asp862Glu) c.1611C>G (p.Asp537Glu) c.2325C>G (p.Asp775Glu) c.3303C>G (p.Asp1101Glu) n.3121C>G n.3329C>G | |
| 1 | g.197435031C>T | CA422809084 | CRB1 | c.3168C>T (p.Asp1056=) c.2049C>T (p.Asp683=) c.1311C>T (p.Asp437=) c.2832C>T (p.Asp944=) c.3096C>T (p.Asp1032=) c.2129-569C>T (n.2129-569C>T) n.3169C>T n.3377C>T c.2586C>T (p.Asp862=) c.1611C>T (p.Asp537=) c.2325C>T (p.Asp775=) c.3303C>T (p.Asp1101=) n.3121C>T n.3329C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197435032A>C | CA344046299 | CRB1 | c.3169A>C (p.Asn1057His) c.2050A>C (p.Asn684His) c.1312A>C (p.Asn438His) c.2833A>C (p.Asn945His) c.3097A>C (p.Asn1033His) c.2129-568A>C (n.2129-568A>C) n.3170A>C n.3378A>C c.2587A>C (p.Asn863His) c.1612A>C (p.Asn538His) c.2326A>C (p.Asn776His) c.3304A>C (p.Asn1102His) n.3122A>C n.3330A>C | |
| 1 | g.197435032A>G | CA344046301 | CRB1 | c.3169A>G (p.Asn1057Asp) c.2050A>G (p.Asn684Asp) c.1312A>G (p.Asn438Asp) c.2833A>G (p.Asn945Asp) c.3097A>G (p.Asn1033Asp) c.2129-568A>G (n.2129-568A>G) n.3170A>G n.3378A>G c.2587A>G (p.Asn863Asp) c.1612A>G (p.Asn538Asp) c.2326A>G (p.Asn776Asp) c.3304A>G (p.Asn1102Asp) n.3122A>G n.3330A>G | |
| 1 | g.197435032A>T | CA344046306 | CRB1 | c.3169A>T (p.Asn1057Tyr) c.2050A>T (p.Asn684Tyr) c.1312A>T (p.Asn438Tyr) c.2833A>T (p.Asn945Tyr) c.3097A>T (p.Asn1033Tyr) c.2129-568A>T (n.2129-568A>T) n.3170A>T n.3378A>T c.2587A>T (p.Asn863Tyr) c.1612A>T (p.Asn538Tyr) c.2326A>T (p.Asn776Tyr) c.3304A>T (p.Asn1102Tyr) n.3122A>T n.3330A>T | |
| 1 | g.197435033A= | CA1218068770 | CRB1 | c.3170A= (p.Asn1057=) c.2051A= (p.Asn684=) c.1313A= (p.Asn438=) c.2834A= (p.Asn945=) c.3098A= (p.Asn1033=) c.2129-567A= (n.2129-567A=) n.3171A= n.3379A= c.2588A= (p.Asn863=) c.1613A= (p.Asn538=) c.2327A= (p.Asn776=) c.3305A= (p.Asn1102=) n.3123A= n.3331A= | |
| 1 | g.197435033A>C | CA344046309 | CRB1 | c.3170A>C (p.Asn1057Thr) c.2051A>C (p.Asn684Thr) c.1313A>C (p.Asn438Thr) c.2834A>C (p.Asn945Thr) c.3098A>C (p.Asn1033Thr) c.2129-567A>C (n.2129-567A>C) n.3171A>C n.3379A>C c.2588A>C (p.Asn863Thr) c.1613A>C (p.Asn538Thr) c.2327A>C (p.Asn776Thr) c.3305A>C (p.Asn1102Thr) n.3123A>C n.3331A>C | |
| 1 | g.197435033A>G | CA344046319 | CRB1 | c.3170A>G (p.Asn1057Ser) c.2051A>G (p.Asn684Ser) c.1313A>G (p.Asn438Ser) c.2834A>G (p.Asn945Ser) c.3098A>G (p.Asn1033Ser) c.2129-567A>G (n.2129-567A>G) n.3171A>G n.3379A>G c.2588A>G (p.Asn863Ser) c.1613A>G (p.Asn538Ser) c.2327A>G (p.Asn776Ser) c.3305A>G (p.Asn1102Ser) n.3123A>G n.3331A>G | dbSNP |
| 1 | g.197435033A>T | CA344046331 | CRB1 | c.3170A>T (p.Asn1057Ile) c.2051A>T (p.Asn684Ile) c.1313A>T (p.Asn438Ile) c.2834A>T (p.Asn945Ile) c.3098A>T (p.Asn1033Ile) c.2129-567A>T (n.2129-567A>T) n.3171A>T n.3379A>T c.2588A>T (p.Asn863Ile) c.1613A>T (p.Asn538Ile) c.2327A>T (p.Asn776Ile) c.3305A>T (p.Asn1102Ile) n.3123A>T n.3331A>T | |
| 1 | g.197435034C>A | CA344046335 | CRB1 | c.3171C>A (p.Asn1057Lys) c.2052C>A (p.Asn684Lys) c.1314C>A (p.Asn438Lys) c.2835C>A (p.Asn945Lys) c.3099C>A (p.Asn1033Lys) c.2129-566C>A (n.2129-566C>A) n.3172C>A n.3380C>A c.2589C>A (p.Asn863Lys) c.1614C>A (p.Asn538Lys) c.2328C>A (p.Asn776Lys) c.3306C>A (p.Asn1102Lys) n.3124C>A n.3332C>A | |
| 1 | g.197435034C= | CA1140762961 | CRB1 | c.3171C= (p.Asn1057=) c.2052C= (p.Asn684=) c.1314C= (p.Asn438=) c.2835C= (p.Asn945=) c.3099C= (p.Asn1033=) c.2129-566C= (n.2129-566C=) n.3172C= n.3380C= c.2589C= (p.Asn863=) c.1614C= (p.Asn538=) c.2328C= (p.Asn776=) c.3306C= (p.Asn1102=) n.3124C= n.3332C= | |
| 1 | g.197435034C>G | CA1312285 | CRB1 | c.3171C>G (p.Asn1057Lys) c.2052C>G (p.Asn684Lys) c.1314C>G (p.Asn438Lys) c.2835C>G (p.Asn945Lys) c.3099C>G (p.Asn1033Lys) c.2129-566C>G (n.2129-566C>G) n.3172C>G n.3380C>G c.2589C>G (p.Asn863Lys) c.1614C>G (p.Asn538Lys) c.2328C>G (p.Asn776Lys) c.3306C>G (p.Asn1102Lys) n.3124C>G n.3332C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197435034C>T | CA228032 | CRB1 | c.3171C>T (p.Asn1057=) c.2052C>T (p.Asn684=) c.1314C>T (p.Asn438=) c.2835C>T (p.Asn945=) c.3099C>T (p.Asn1033=) c.2129-566C>T (n.2129-566C>T) n.3172C>T n.3380C>T c.2589C>T (p.Asn863=) c.1614C>T (p.Asn538=) c.2328C>T (p.Asn776=) c.3306C>T (p.Asn1102=) n.3124C>T n.3332C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197435035G>A | CA1312286 | CRB1 | c.3172G>A (p.Glu1058Lys) c.2053G>A (p.Glu685Lys) c.1315G>A (p.Glu439Lys) c.2836G>A (p.Glu946Lys) c.3100G>A (p.Glu1034Lys) c.2129-565G>A (n.2129-565G>A) n.3173G>A n.3381G>A c.2590G>A (p.Glu864Lys) c.1615G>A (p.Glu539Lys) c.2329G>A (p.Glu777Lys) c.3307G>A (p.Glu1103Lys) n.3125G>A n.3333G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.197435035G>C | CA344046343 | CRB1 | c.3172G>C (p.Glu1058Gln) c.2053G>C (p.Glu685Gln) c.1315G>C (p.Glu439Gln) c.2836G>C (p.Glu946Gln) c.3100G>C (p.Glu1034Gln) c.2129-565G>C (n.2129-565G>C) n.3173G>C n.3381G>C c.2590G>C (p.Glu864Gln) c.1615G>C (p.Glu539Gln) c.2329G>C (p.Glu777Gln) c.3307G>C (p.Glu1103Gln) n.3125G>C n.3333G>C | |
| 1 | g.197435035G= | CA1147092687 | CRB1 | c.3172G= (p.Glu1058=) c.2053G= (p.Glu685=) c.1315G= (p.Glu439=) c.2836G= (p.Glu946=) c.3100G= (p.Glu1034=) c.2129-565G= (n.2129-565G=) n.3173G= n.3381G= c.2590G= (p.Glu864=) c.1615G= (p.Glu539=) c.2329G= (p.Glu777=) c.3307G= (p.Glu1103=) n.3125G= n.3333G= | |
| 1 | g.197435035G>T | CA344046346 | CRB1 | c.3172G>T (p.Glu1058Ter) c.2053G>T (p.Glu685Ter) c.1315G>T (p.Glu439Ter) c.2836G>T (p.Glu946Ter) c.3100G>T (p.Glu1034Ter) c.2129-565G>T (n.2129-565G>T) n.3173G>T n.3381G>T c.2590G>T (p.Glu864Ter) c.1615G>T (p.Glu539Ter) c.2329G>T (p.Glu777Ter) c.3307G>T (p.Glu1103Ter) n.3125G>T n.3333G>T | ClinVar dbSNP |
| 1 | g.197435036A= | CA1144353962 | CRB1 | c.3173A= (p.Glu1058=) c.2054A= (p.Glu685=) c.1316A= (p.Glu439=) c.2837A= (p.Glu946=) c.3101A= (p.Glu1034=) c.2129-564A= (n.2129-564A=) n.3174A= n.3382A= c.2591A= (p.Glu864=) c.1616A= (p.Glu539=) c.2330A= (p.Glu777=) c.3308A= (p.Glu1103=) n.3126A= n.3334A= | |
| 1 | g.197435036A>C | CA344046364 | CRB1 | c.3173A>C (p.Glu1058Ala) c.2054A>C (p.Glu685Ala) c.1316A>C (p.Glu439Ala) c.2837A>C (p.Glu946Ala) c.3101A>C (p.Glu1034Ala) c.2129-564A>C (n.2129-564A>C) n.3174A>C n.3382A>C c.2591A>C (p.Glu864Ala) c.1616A>C (p.Glu539Ala) c.2330A>C (p.Glu777Ala) c.3308A>C (p.Glu1103Ala) n.3126A>C n.3334A>C | gnomAD v4 |
| 1 | g.197435036A>G | CA35907090 | CRB1 | c.3173A>G (p.Glu1058Gly) c.2054A>G (p.Glu685Gly) c.1316A>G (p.Glu439Gly) c.2837A>G (p.Glu946Gly) c.3101A>G (p.Glu1034Gly) c.2129-564A>G (n.2129-564A>G) n.3174A>G n.3382A>G c.2591A>G (p.Glu864Gly) c.1616A>G (p.Glu539Gly) c.2330A>G (p.Glu777Gly) c.3308A>G (p.Glu1103Gly) n.3126A>G n.3334A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197435036A>T | CA344046369 | CRB1 | c.3173A>T (p.Glu1058Val) c.2054A>T (p.Glu685Val) c.1316A>T (p.Glu439Val) c.2837A>T (p.Glu946Val) c.3101A>T (p.Glu1034Val) c.2129-564A>T (n.2129-564A>T) n.3174A>T n.3382A>T c.2591A>T (p.Glu864Val) c.1616A>T (p.Glu539Val) c.2330A>T (p.Glu777Val) c.3308A>T (p.Glu1103Val) n.3126A>T n.3334A>T | dbSNP |
| 1 | g.197435037A>C | CA344046372 | CRB1 | c.3174A>C (p.Glu1058Asp) c.2055A>C (p.Glu685Asp) c.1317A>C (p.Glu439Asp) c.2838A>C (p.Glu946Asp) c.3102A>C (p.Glu1034Asp) c.2129-563A>C (n.2129-563A>C) n.3175A>C n.3383A>C c.2592A>C (p.Glu864Asp) c.1617A>C (p.Glu539Asp) c.2331A>C (p.Glu777Asp) c.3309A>C (p.Glu1103Asp) n.3127A>C n.3335A>C | |
| 1 | g.197435037A>G | CA422809098 | CRB1 | c.3174A>G (p.Glu1058=) c.2055A>G (p.Glu685=) c.1317A>G (p.Glu439=) c.2838A>G (p.Glu946=) c.3102A>G (p.Glu1034=) c.2129-563A>G (n.2129-563A>G) n.3175A>G n.3383A>G c.2592A>G (p.Glu864=) c.1617A>G (p.Glu539=) c.2331A>G (p.Glu777=) c.3309A>G (p.Glu1103=) n.3127A>G n.3335A>G | |
| 1 | g.197435037A>T | CA344046374 | CRB1 | c.3174A>T (p.Glu1058Asp) c.2055A>T (p.Glu685Asp) c.1317A>T (p.Glu439Asp) c.2838A>T (p.Glu946Asp) c.3102A>T (p.Glu1034Asp) c.2129-563A>T (n.2129-563A>T) n.3175A>T n.3383A>T c.2592A>T (p.Glu864Asp) c.1617A>T (p.Glu539Asp) c.2331A>T (p.Glu777Asp) c.3309A>T (p.Glu1103Asp) n.3127A>T n.3335A>T | |
| 1 | g.197435038A>C | CA344046377 | CRB1 | c.3175A>C (p.Thr1059Pro) c.2056A>C (p.Thr686Pro) c.1318A>C (p.Thr440Pro) c.2839A>C (p.Thr947Pro) c.3103A>C (p.Thr1035Pro) c.2129-562A>C (n.2129-562A>C) n.3176A>C n.3384A>C c.2593A>C (p.Thr865Pro) c.1618A>C (p.Thr540Pro) c.2332A>C (p.Thr778Pro) c.3310A>C (p.Thr1104Pro) n.3128A>C n.3336A>C | |
| 1 | g.197435038A>G | CA344046397 | CRB1 | c.3175A>G (p.Thr1059Ala) c.2056A>G (p.Thr686Ala) c.1318A>G (p.Thr440Ala) c.2839A>G (p.Thr947Ala) c.3103A>G (p.Thr1035Ala) c.2129-562A>G (n.2129-562A>G) n.3176A>G n.3384A>G c.2593A>G (p.Thr865Ala) c.1618A>G (p.Thr540Ala) c.2332A>G (p.Thr778Ala) c.3310A>G (p.Thr1104Ala) n.3128A>G n.3336A>G | |
| 1 | g.197435038A>T | CA344046409 | CRB1 | c.3175A>T (p.Thr1059Ser) c.2056A>T (p.Thr686Ser) c.1318A>T (p.Thr440Ser) c.2839A>T (p.Thr947Ser) c.3103A>T (p.Thr1035Ser) c.2129-562A>T (n.2129-562A>T) n.3176A>T n.3384A>T c.2593A>T (p.Thr865Ser) c.1618A>T (p.Thr540Ser) c.2332A>T (p.Thr778Ser) c.3310A>T (p.Thr1104Ser) n.3128A>T n.3336A>T | |
| 1 | g.197435039C>A | CA344046414 | CRB1 | c.3176C>A (p.Thr1059Lys) c.2057C>A (p.Thr686Lys) c.1319C>A (p.Thr440Lys) c.2840C>A (p.Thr947Lys) c.3104C>A (p.Thr1035Lys) c.2129-561C>A (n.2129-561C>A) n.3177C>A n.3385C>A c.2594C>A (p.Thr865Lys) c.1619C>A (p.Thr540Lys) c.2333C>A (p.Thr778Lys) c.3311C>A (p.Thr1104Lys) n.3129C>A n.3337C>A | |
| 1 | g.197435039C>G | CA344046417 | CRB1 | c.3176C>G (p.Thr1059Arg) c.2057C>G (p.Thr686Arg) c.1319C>G (p.Thr440Arg) c.2840C>G (p.Thr947Arg) c.3104C>G (p.Thr1035Arg) c.2129-561C>G (n.2129-561C>G) n.3177C>G n.3385C>G c.2594C>G (p.Thr865Arg) c.1619C>G (p.Thr540Arg) c.2333C>G (p.Thr778Arg) c.3311C>G (p.Thr1104Arg) n.3129C>G n.3337C>G | |
| 1 | g.197435039C>T | CA344046427 | CRB1 | c.3176C>T (p.Thr1059Ile) c.2057C>T (p.Thr686Ile) c.1319C>T (p.Thr440Ile) c.2840C>T (p.Thr947Ile) c.3104C>T (p.Thr1035Ile) c.2129-561C>T (n.2129-561C>T) n.3177C>T n.3385C>T c.2594C>T (p.Thr865Ile) c.1619C>T (p.Thr540Ile) c.2333C>T (p.Thr778Ile) c.3311C>T (p.Thr1104Ile) n.3129C>T n.3337C>T | |
| 1 | g.197435040A= | CA1141407302 | CRB1 | c.3177A= (p.Thr1059=) c.2058A= (p.Thr686=) c.1320A= (p.Thr440=) c.2841A= (p.Thr947=) c.3105A= (p.Thr1035=) c.2129-560A= (n.2129-560A=) n.3178A= n.3386A= c.2595A= (p.Thr865=) c.1620A= (p.Thr540=) c.2334A= (p.Thr778=) c.3312A= (p.Thr1104=) n.3130A= n.3338A= | |
| 1 | g.197435040A>C | CA422809106 | CRB1 | c.3177A>C (p.Thr1059=) c.2058A>C (p.Thr686=) c.1320A>C (p.Thr440=) c.2841A>C (p.Thr947=) c.3105A>C (p.Thr1035=) c.2129-560A>C (n.2129-560A>C) n.3178A>C n.3386A>C c.2595A>C (p.Thr865=) c.1620A>C (p.Thr540=) c.2334A>C (p.Thr778=) c.3312A>C (p.Thr1104=) n.3130A>C n.3338A>C | |
| 1 | g.197435040A>G | CA1312287 | CRB1 | c.3177A>G (p.Thr1059=) c.2058A>G (p.Thr686=) c.1320A>G (p.Thr440=) c.2841A>G (p.Thr947=) c.3105A>G (p.Thr1035=) c.2129-560A>G (n.2129-560A>G) n.3178A>G n.3386A>G c.2595A>G (p.Thr865=) c.1620A>G (p.Thr540=) c.2334A>G (p.Thr778=) c.3312A>G (p.Thr1104=) n.3130A>G n.3338A>G | dbSNP ExAC gnomAD v4 |
| 1 | g.197435040A>T | CA422809110 | CRB1 | c.3177A>T (p.Thr1059=) c.2058A>T (p.Thr686=) c.1320A>T (p.Thr440=) c.2841A>T (p.Thr947=) c.3105A>T (p.Thr1035=) c.2129-560A>T (n.2129-560A>T) n.3178A>T n.3386A>T c.2595A>T (p.Thr865=) c.1620A>T (p.Thr540=) c.2334A>T (p.Thr778=) c.3312A>T (p.Thr1104=) n.3130A>T n.3338A>T | |
| 1 | g.197435041C>A | CA344046439 | CRB1 | c.3178C>A (p.Pro1060Thr) c.2059C>A (p.Pro687Thr) c.1321C>A (p.Pro441Thr) c.2842C>A (p.Pro948Thr) c.3106C>A (p.Pro1036Thr) c.2129-559C>A (n.2129-559C>A) n.3179C>A n.3387C>A c.2596C>A (p.Pro866Thr) c.1621C>A (p.Pro541Thr) c.2335C>A (p.Pro779Thr) c.3313C>A (p.Pro1105Thr) n.3131C>A n.3339C>A | |
| 1 | g.197435041C>G | CA344046441 | CRB1 | c.3178C>G (p.Pro1060Ala) c.2059C>G (p.Pro687Ala) c.1321C>G (p.Pro441Ala) c.2842C>G (p.Pro948Ala) c.3106C>G (p.Pro1036Ala) c.2129-559C>G (n.2129-559C>G) n.3179C>G n.3387C>G c.2596C>G (p.Pro866Ala) c.1621C>G (p.Pro541Ala) c.2335C>G (p.Pro779Ala) c.3313C>G (p.Pro1105Ala) n.3131C>G n.3339C>G | gnomAD v4 |
| 1 | g.197435041C>T | CA344046443 | CRB1 | c.3178C>T (p.Pro1060Ser) c.2059C>T (p.Pro687Ser) c.1321C>T (p.Pro441Ser) c.2842C>T (p.Pro948Ser) c.3106C>T (p.Pro1036Ser) c.2129-559C>T (n.2129-559C>T) n.3179C>T n.3387C>T c.2596C>T (p.Pro866Ser) c.1621C>T (p.Pro541Ser) c.2335C>T (p.Pro779Ser) c.3313C>T (p.Pro1105Ser) n.3131C>T n.3339C>T | |
| 1 | g.197435042C>A | CA344046456 | CRB1 | c.3179C>A (p.Pro1060His) c.2060C>A (p.Pro687His) c.1322C>A (p.Pro441His) c.2843C>A (p.Pro948His) c.3107C>A (p.Pro1036His) c.2129-558C>A (n.2129-558C>A) n.3180C>A n.3388C>A c.2597C>A (p.Pro866His) c.1622C>A (p.Pro541His) c.2336C>A (p.Pro779His) c.3314C>A (p.Pro1105His) n.3132C>A n.3340C>A | gnomAD v4 |
| 1 | g.197435042C= | CA1141825531 | CRB1 | c.3179C= (p.Pro1060=) c.2060C= (p.Pro687=) c.1322C= (p.Pro441=) c.2843C= (p.Pro948=) c.3107C= (p.Pro1036=) c.2129-558C= (n.2129-558C=) n.3180C= n.3388C= c.2597C= (p.Pro866=) c.1622C= (p.Pro541=) c.2336C= (p.Pro779=) c.3314C= (p.Pro1105=) n.3132C= n.3340C= | |
| 1 | g.197435042C>G | CA1312289 | CRB1 | c.3179C>G (p.Pro1060Arg) c.2060C>G (p.Pro687Arg) c.1322C>G (p.Pro441Arg) c.2843C>G (p.Pro948Arg) c.3107C>G (p.Pro1036Arg) c.2129-558C>G (n.2129-558C>G) n.3180C>G n.3388C>G c.2597C>G (p.Pro866Arg) c.1622C>G (p.Pro541Arg) c.2336C>G (p.Pro779Arg) c.3314C>G (p.Pro1105Arg) n.3132C>G n.3340C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197435042C>T | CA1312288 | CRB1 | c.3179C>T (p.Pro1060Leu) c.2060C>T (p.Pro687Leu) c.1322C>T (p.Pro441Leu) c.2843C>T (p.Pro948Leu) c.3107C>T (p.Pro1036Leu) c.2129-558C>T (n.2129-558C>T) n.3180C>T n.3388C>T c.2597C>T (p.Pro866Leu) c.1622C>T (p.Pro541Leu) c.2336C>T (p.Pro779Leu) c.3314C>T (p.Pro1105Leu) n.3132C>T n.3340C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197435043T>A | CA422809122 | CRB1 | c.3180T>A (p.Pro1060=) c.2061T>A (p.Pro687=) c.1323T>A (p.Pro441=) c.2844T>A (p.Pro948=) c.3108T>A (p.Pro1036=) c.2129-557T>A (n.2129-557T>A) n.3181T>A n.3389T>A c.2598T>A (p.Pro866=) c.1623T>A (p.Pro541=) c.2337T>A (p.Pro779=) c.3315T>A (p.Pro1105=) n.3133T>A n.3341T>A | |
| 1 | g.197435043T>C | CA422809123 | CRB1 | c.3180T>C (p.Pro1060=) c.2061T>C (p.Pro687=) c.1323T>C (p.Pro441=) c.2844T>C (p.Pro948=) c.3108T>C (p.Pro1036=) c.2129-557T>C (n.2129-557T>C) n.3181T>C n.3389T>C c.2598T>C (p.Pro866=) c.1623T>C (p.Pro541=) c.2337T>C (p.Pro779=) c.3315T>C (p.Pro1105=) n.3133T>C n.3341T>C | |
| 1 | g.197435043T>G | CA422809124 | CRB1 | c.3180T>G (p.Pro1060=) c.2061T>G (p.Pro687=) c.1323T>G (p.Pro441=) c.2844T>G (p.Pro948=) c.3108T>G (p.Pro1036=) c.2129-557T>G (n.2129-557T>G) n.3181T>G n.3389T>G c.2598T>G (p.Pro866=) c.1623T>G (p.Pro541=) c.2337T>G (p.Pro779=) c.3315T>G (p.Pro1105=) n.3133T>G n.3341T>G | |
| 1 | g.197435045_197435046dup | CA2649670641 | CRB1 | c.3182_3183dup (p.Val1062LeufsTer2) c.2063_2064dup (p.Val689LeufsTer2) c.1325_1326dup (p.Val443LeufsTer2) c.2846_2847dup (p.Val950LeufsTer2) c.3110_3111dup (p.Val1038LeufsTer2) c.2129-555_2129-554dup (n.2129-555_2129-554dup) n.3183_3184dup n.3391_3392dup c.2600_2601dup (p.Val868LeufsTer2) c.1625_1626dup (p.Val543LeufsTer2) c.2339_2340dup (p.Val781LeufsTer2) c.3317_3318dup (p.Val1107LeufsTer2) n.3135_3136dup n.3343_3344dup | gnomAD v4 |
| 1 | g.197435044T>A | CA344046461 | CRB1 | c.3181T>A (p.Phe1061Ile) c.2062T>A (p.Phe688Ile) c.1324T>A (p.Phe442Ile) c.2845T>A (p.Phe949Ile) c.3109T>A (p.Phe1037Ile) c.2129-556T>A (n.2129-556T>A) n.3182T>A n.3390T>A c.2599T>A (p.Phe867Ile) c.1624T>A (p.Phe542Ile) c.2338T>A (p.Phe780Ile) c.3316T>A (p.Phe1106Ile) n.3134T>A n.3342T>A | |
| 1 | g.197435044T>C | CA344046463 | CRB1 | c.3181T>C (p.Phe1061Leu) c.2062T>C (p.Phe688Leu) c.1324T>C (p.Phe442Leu) c.2845T>C (p.Phe949Leu) c.3109T>C (p.Phe1037Leu) c.2129-556T>C (n.2129-556T>C) n.3182T>C n.3390T>C c.2599T>C (p.Phe867Leu) c.1624T>C (p.Phe542Leu) c.2338T>C (p.Phe780Leu) c.3316T>C (p.Phe1106Leu) n.3134T>C n.3342T>C | |
| 1 | g.197435044T>G | CA344046464 | CRB1 | c.3181T>G (p.Phe1061Val) c.2062T>G (p.Phe688Val) c.1324T>G (p.Phe442Val) c.2845T>G (p.Phe949Val) c.3109T>G (p.Phe1037Val) c.2129-556T>G (n.2129-556T>G) n.3182T>G n.3390T>G c.2599T>G (p.Phe867Val) c.1624T>G (p.Phe542Val) c.2338T>G (p.Phe780Val) c.3316T>G (p.Phe1106Val) n.3134T>G n.3342T>G | |
| 1 | g.197435045T>A | CA344046465 | CRB1 | c.3182T>A (p.Phe1061Tyr) c.2063T>A (p.Phe688Tyr) c.1325T>A (p.Phe442Tyr) c.2846T>A (p.Phe949Tyr) c.3110T>A (p.Phe1037Tyr) c.2129-555T>A (n.2129-555T>A) n.3183T>A n.3391T>A c.2600T>A (p.Phe867Tyr) c.1625T>A (p.Phe542Tyr) c.2339T>A (p.Phe780Tyr) c.3317T>A (p.Phe1106Tyr) n.3135T>A n.3343T>A | |
| 1 | g.197435045T>C | CA344046468 | CRB1 | c.3182T>C (p.Phe1061Ser) c.2063T>C (p.Phe688Ser) c.1325T>C (p.Phe442Ser) c.2846T>C (p.Phe949Ser) c.3110T>C (p.Phe1037Ser) c.2129-555T>C (n.2129-555T>C) n.3183T>C n.3391T>C c.2600T>C (p.Phe867Ser) c.1625T>C (p.Phe542Ser) c.2339T>C (p.Phe780Ser) c.3317T>C (p.Phe1106Ser) n.3135T>C n.3343T>C | |
| 1 | g.197435045T>G | CA344046473 | CRB1 | c.3182T>G (p.Phe1061Cys) c.2063T>G (p.Phe688Cys) c.1325T>G (p.Phe442Cys) c.2846T>G (p.Phe949Cys) c.3110T>G (p.Phe1037Cys) c.2129-555T>G (n.2129-555T>G) n.3183T>G n.3391T>G c.2600T>G (p.Phe867Cys) c.1625T>G (p.Phe542Cys) c.2339T>G (p.Phe780Cys) c.3317T>G (p.Phe1106Cys) n.3135T>G n.3343T>G | |
| 1 | g.197435046T>A | CA344046478 | CRB1 | c.3183T>A (p.Phe1061Leu) c.2064T>A (p.Phe688Leu) c.1326T>A (p.Phe442Leu) c.2847T>A (p.Phe949Leu) c.3111T>A (p.Phe1037Leu) c.2129-554T>A (n.2129-554T>A) n.3184T>A n.3392T>A c.2601T>A (p.Phe867Leu) c.1626T>A (p.Phe542Leu) c.2340T>A (p.Phe780Leu) c.3318T>A (p.Phe1106Leu) n.3136T>A n.3344T>A | ClinVar |
| 1 | g.197435046T>C | CA422809130 | CRB1 | c.3183T>C (p.Phe1061=) c.2064T>C (p.Phe688=) c.1326T>C (p.Phe442=) c.2847T>C (p.Phe949=) c.3111T>C (p.Phe1037=) c.2129-554T>C (n.2129-554T>C) n.3184T>C n.3392T>C c.2601T>C (p.Phe867=) c.1626T>C (p.Phe542=) c.2340T>C (p.Phe780=) c.3318T>C (p.Phe1106=) n.3136T>C n.3344T>C | |
| 1 | g.197435046T>G | CA344046482 | CRB1 | c.3183T>G (p.Phe1061Leu) c.2064T>G (p.Phe688Leu) c.1326T>G (p.Phe442Leu) c.2847T>G (p.Phe949Leu) c.3111T>G (p.Phe1037Leu) c.2129-554T>G (n.2129-554T>G) n.3184T>G n.3392T>G c.2601T>G (p.Phe867Leu) c.1626T>G (p.Phe542Leu) c.2340T>G (p.Phe780Leu) c.3318T>G (p.Phe1106Leu) n.3136T>G n.3344T>G | |
| 1 | g.197435047G>A | CA344046491 | CRB1 | c.3184G>A (p.Val1062Met) c.2065G>A (p.Val689Met) c.1327G>A (p.Val443Met) c.2848G>A (p.Val950Met) c.3112G>A (p.Val1038Met) c.2129-553G>A (n.2129-553G>A) n.3185G>A n.3393G>A c.2602G>A (p.Val868Met) c.1627G>A (p.Val543Met) c.2341G>A (p.Val781Met) c.3319G>A (p.Val1107Met) n.3137G>A n.3345G>A | |
| 1 | g.197435047G>C | CA344046494 | CRB1 | c.3184G>C (p.Val1062Leu) c.2065G>C (p.Val689Leu) c.1327G>C (p.Val443Leu) c.2848G>C (p.Val950Leu) c.3112G>C (p.Val1038Leu) c.2129-553G>C (n.2129-553G>C) n.3185G>C n.3393G>C c.2602G>C (p.Val868Leu) c.1627G>C (p.Val543Leu) c.2341G>C (p.Val781Leu) c.3319G>C (p.Val1107Leu) n.3137G>C n.3345G>C | |
| 1 | g.197435047G>T | CA344046498 | CRB1 | c.3184G>T (p.Val1062Leu) c.2065G>T (p.Val689Leu) c.1327G>T (p.Val443Leu) c.2848G>T (p.Val950Leu) c.3112G>T (p.Val1038Leu) c.2129-553G>T (n.2129-553G>T) n.3185G>T n.3393G>T c.2602G>T (p.Val868Leu) c.1627G>T (p.Val543Leu) c.2341G>T (p.Val781Leu) c.3319G>T (p.Val1107Leu) n.3137G>T n.3345G>T | |
| 1 | g.197435048T>A | CA344046500 | CRB1 | c.3185T>A (p.Val1062Glu) c.2066T>A (p.Val689Glu) c.1328T>A (p.Val443Glu) c.2849T>A (p.Val950Glu) c.3113T>A (p.Val1038Glu) c.2129-552T>A (n.2129-552T>A) n.3186T>A n.3394T>A c.2603T>A (p.Val868Glu) c.1628T>A (p.Val543Glu) c.2342T>A (p.Val781Glu) c.3320T>A (p.Val1107Glu) n.3138T>A n.3346T>A | |
| 1 | g.197435048T>C | CA344046501 | CRB1 | c.3185T>C (p.Val1062Ala) c.2066T>C (p.Val689Ala) c.1328T>C (p.Val443Ala) c.2849T>C (p.Val950Ala) c.3113T>C (p.Val1038Ala) c.2129-552T>C (n.2129-552T>C) n.3186T>C n.3394T>C c.2603T>C (p.Val868Ala) c.1628T>C (p.Val543Ala) c.2342T>C (p.Val781Ala) c.3320T>C (p.Val1107Ala) n.3138T>C n.3346T>C | |
| 1 | g.197435048T>G | CA344046499 | CRB1 | c.3185T>G (p.Val1062Gly) c.2066T>G (p.Val689Gly) c.1328T>G (p.Val443Gly) c.2849T>G (p.Val950Gly) c.3113T>G (p.Val1038Gly) c.2129-552T>G (n.2129-552T>G) n.3186T>G n.3394T>G c.2603T>G (p.Val868Gly) c.1628T>G (p.Val543Gly) c.2342T>G (p.Val781Gly) c.3320T>G (p.Val1107Gly) n.3138T>G n.3346T>G | |
| 1 | g.197435049G>A | CA422809149 | CRB1 | c.3186G>A (p.Val1062=) c.2067G>A (p.Val689=) c.1329G>A (p.Val443=) c.2850G>A (p.Val950=) c.3114G>A (p.Val1038=) c.2129-551G>A (n.2129-551G>A) n.3187G>A n.3395G>A c.2604G>A (p.Val868=) c.1629G>A (p.Val543=) c.2343G>A (p.Val781=) c.3321G>A (p.Val1107=) n.3139G>A n.3347G>A | |
| 1 | g.197435049G>C | CA422809151 | CRB1 | c.3186G>C (p.Val1062=) c.2067G>C (p.Val689=) c.1329G>C (p.Val443=) c.2850G>C (p.Val950=) c.3114G>C (p.Val1038=) c.2129-551G>C (n.2129-551G>C) n.3187G>C n.3395G>C c.2604G>C (p.Val868=) c.1629G>C (p.Val543=) c.2343G>C (p.Val781=) c.3321G>C (p.Val1107=) n.3139G>C n.3347G>C | |
| 1 | g.197435049G>T | CA422809141 | CRB1 | c.3186G>T (p.Val1062=) c.2067G>T (p.Val689=) c.1329G>T (p.Val443=) c.2850G>T (p.Val950=) c.3114G>T (p.Val1038=) c.2129-551G>T (n.2129-551G>T) n.3187G>T n.3395G>T c.2604G>T (p.Val868=) c.1629G>T (p.Val543=) c.2343G>T (p.Val781=) c.3321G>T (p.Val1107=) n.3139G>T n.3347G>T | |
| 1 | g.197435050A>C | CA344046507 | CRB1 | c.3187A>C (p.Thr1063Pro) c.2068A>C (p.Thr690Pro) c.1330A>C (p.Thr444Pro) c.2851A>C (p.Thr951Pro) c.3115A>C (p.Thr1039Pro) c.2129-550A>C (n.2129-550A>C) n.3188A>C n.3396A>C c.2605A>C (p.Thr869Pro) c.1630A>C (p.Thr544Pro) c.2344A>C (p.Thr782Pro) c.3322A>C (p.Thr1108Pro) n.3140A>C n.3348A>C | |
| 1 | g.197435050A>G | CA344046503 | CRB1 | c.3187A>G (p.Thr1063Ala) c.2068A>G (p.Thr690Ala) c.1330A>G (p.Thr444Ala) c.2851A>G (p.Thr951Ala) c.3115A>G (p.Thr1039Ala) c.2129-550A>G (n.2129-550A>G) n.3188A>G n.3396A>G c.2605A>G (p.Thr869Ala) c.1630A>G (p.Thr544Ala) c.2344A>G (p.Thr782Ala) c.3322A>G (p.Thr1108Ala) n.3140A>G n.3348A>G | |
| 1 | g.197435050A>T | CA344046505 | CRB1 | c.3187A>T (p.Thr1063Ser) c.2068A>T (p.Thr690Ser) c.1330A>T (p.Thr444Ser) c.2851A>T (p.Thr951Ser) c.3115A>T (p.Thr1039Ser) c.2129-550A>T (n.2129-550A>T) n.3188A>T n.3396A>T c.2605A>T (p.Thr869Ser) c.1630A>T (p.Thr544Ser) c.2344A>T (p.Thr782Ser) c.3322A>T (p.Thr1108Ser) n.3140A>T n.3348A>T | |
| 1 | g.197435051C>A | CA344046510 | CRB1 | c.3188C>A (p.Thr1063Asn) c.2069C>A (p.Thr690Asn) c.1331C>A (p.Thr444Asn) c.2852C>A (p.Thr951Asn) c.3116C>A (p.Thr1039Asn) c.2129-549C>A (n.2129-549C>A) n.3189C>A n.3397C>A c.2606C>A (p.Thr869Asn) c.1631C>A (p.Thr544Asn) c.2345C>A (p.Thr782Asn) c.3323C>A (p.Thr1108Asn) n.3141C>A n.3349C>A | |
| 1 | g.197435051C>G | CA344046511 | CRB1 | c.3188C>G (p.Thr1063Ser) c.2069C>G (p.Thr690Ser) c.1331C>G (p.Thr444Ser) c.2852C>G (p.Thr951Ser) c.3116C>G (p.Thr1039Ser) c.2129-549C>G (n.2129-549C>G) n.3189C>G n.3397C>G c.2606C>G (p.Thr869Ser) c.1631C>G (p.Thr544Ser) c.2345C>G (p.Thr782Ser) c.3323C>G (p.Thr1108Ser) n.3141C>G n.3349C>G | |
| 1 | g.197435051C>T | CA344046517 | CRB1 | c.3188C>T (p.Thr1063Ile) c.2069C>T (p.Thr690Ile) c.1331C>T (p.Thr444Ile) c.2852C>T (p.Thr951Ile) c.3116C>T (p.Thr1039Ile) c.2129-549C>T (n.2129-549C>T) n.3189C>T n.3397C>T c.2606C>T (p.Thr869Ile) c.1631C>T (p.Thr544Ile) c.2345C>T (p.Thr782Ile) c.3323C>T (p.Thr1108Ile) n.3141C>T n.3349C>T | |
| 1 | g.197435052C>A | CA1312290 | CRB1 | c.3189C>A (p.Thr1063=) c.2070C>A (p.Thr690=) c.1332C>A (p.Thr444=) c.2853C>A (p.Thr951=) c.3117C>A (p.Thr1039=) c.2129-548C>A (n.2129-548C>A) n.3190C>A n.3398C>A c.2607C>A (p.Thr869=) c.1632C>A (p.Thr544=) c.2346C>A (p.Thr782=) c.3324C>A (p.Thr1108=) n.3142C>A n.3350C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197435052C= | CA1143729064 | CRB1 | c.3189C= (p.Thr1063=) c.2070C= (p.Thr690=) c.1332C= (p.Thr444=) c.2853C= (p.Thr951=) c.3117C= (p.Thr1039=) c.2129-548C= (n.2129-548C=) n.3190C= n.3398C= c.2607C= (p.Thr869=) c.1632C= (p.Thr544=) c.2346C= (p.Thr782=) c.3324C= (p.Thr1108=) n.3142C= n.3350C= | |
| 1 | g.197435052C>G | CA422809154 | CRB1 | c.3189C>G (p.Thr1063=) c.2070C>G (p.Thr690=) c.1332C>G (p.Thr444=) c.2853C>G (p.Thr951=) c.3117C>G (p.Thr1039=) c.2129-548C>G (n.2129-548C>G) n.3190C>G n.3398C>G c.2607C>G (p.Thr869=) c.1632C>G (p.Thr544=) c.2346C>G (p.Thr782=) c.3324C>G (p.Thr1108=) n.3142C>G n.3350C>G | |
| 1 | g.197435052C>T | CA422809157 | CRB1 | c.3189C>T (p.Thr1063=) c.2070C>T (p.Thr690=) c.1332C>T (p.Thr444=) c.2853C>T (p.Thr951=) c.3117C>T (p.Thr1039=) c.2129-548C>T (n.2129-548C>T) n.3190C>T n.3398C>T c.2607C>T (p.Thr869=) c.1632C>T (p.Thr544=) c.2346C>T (p.Thr782=) c.3324C>T (p.Thr1108=) n.3142C>T n.3350C>T | ClinVar COSMIC COSMIC |
| 1 | g.197435053A>C | CA344046524 | CRB1 | c.3190A>C (p.Ser1064Arg) c.2071A>C (p.Ser691Arg) c.1333A>C (p.Ser445Arg) c.2854A>C (p.Ser952Arg) c.3118A>C (p.Ser1040Arg) c.2129-547A>C (n.2129-547A>C) n.3191A>C n.3399A>C c.2608A>C (p.Ser870Arg) c.1633A>C (p.Ser545Arg) c.2347A>C (p.Ser783Arg) c.3325A>C (p.Ser1109Arg) n.3143A>C n.3351A>C | |
| 1 | g.197435053A>G | CA344046520 | CRB1 | c.3190A>G (p.Ser1064Gly) c.2071A>G (p.Ser691Gly) c.1333A>G (p.Ser445Gly) c.2854A>G (p.Ser952Gly) c.3118A>G (p.Ser1040Gly) c.2129-547A>G (n.2129-547A>G) n.3191A>G n.3399A>G c.2608A>G (p.Ser870Gly) c.1633A>G (p.Ser545Gly) c.2347A>G (p.Ser783Gly) c.3325A>G (p.Ser1109Gly) n.3143A>G n.3351A>G | |
| 1 | g.197435053A>T | CA344046522 | CRB1 | c.3190A>T (p.Ser1064Cys) c.2071A>T (p.Ser691Cys) c.1333A>T (p.Ser445Cys) c.2854A>T (p.Ser952Cys) c.3118A>T (p.Ser1040Cys) c.2129-547A>T (n.2129-547A>T) n.3191A>T n.3399A>T c.2608A>T (p.Ser870Cys) c.1633A>T (p.Ser545Cys) c.2347A>T (p.Ser783Cys) c.3325A>T (p.Ser1109Cys) n.3143A>T n.3351A>T | |
| 1 | g.197435054G>A | CA344046526 | CRB1 | c.3191G>A (p.Ser1064Asn) c.2072G>A (p.Ser691Asn) c.1334G>A (p.Ser445Asn) c.2855G>A (p.Ser952Asn) c.3119G>A (p.Ser1040Asn) c.2129-546G>A (n.2129-546G>A) n.3192G>A n.3400G>A c.2609G>A (p.Ser870Asn) c.1634G>A (p.Ser545Asn) c.2348G>A (p.Ser783Asn) c.3326G>A (p.Ser1109Asn) n.3144G>A n.3352G>A | |
| 1 | g.197435054G>C | CA344046527 | CRB1 | c.3191G>C (p.Ser1064Thr) c.2072G>C (p.Ser691Thr) c.1334G>C (p.Ser445Thr) c.2855G>C (p.Ser952Thr) c.3119G>C (p.Ser1040Thr) c.2129-546G>C (n.2129-546G>C) n.3192G>C n.3400G>C c.2609G>C (p.Ser870Thr) c.1634G>C (p.Ser545Thr) c.2348G>C (p.Ser783Thr) c.3326G>C (p.Ser1109Thr) n.3144G>C n.3352G>C | |
| 1 | g.197435054G>T | CA344046528 | CRB1 | c.3191G>T (p.Ser1064Ile) c.2072G>T (p.Ser691Ile) c.1334G>T (p.Ser445Ile) c.2855G>T (p.Ser952Ile) c.3119G>T (p.Ser1040Ile) c.2129-546G>T (n.2129-546G>T) n.3192G>T n.3400G>T c.2609G>T (p.Ser870Ile) c.1634G>T (p.Ser545Ile) c.2348G>T (p.Ser783Ile) c.3326G>T (p.Ser1109Ile) n.3144G>T n.3352G>T | |
| 1 | g.197435055C>A | CA344046529 | CRB1 | c.3192C>A (p.Ser1064Arg) c.2073C>A (p.Ser691Arg) c.1335C>A (p.Ser445Arg) c.2856C>A (p.Ser952Arg) c.3120C>A (p.Ser1040Arg) c.2129-545C>A (n.2129-545C>A) n.3193C>A n.3401C>A c.2610C>A (p.Ser870Arg) c.1635C>A (p.Ser545Arg) c.2349C>A (p.Ser783Arg) c.3327C>A (p.Ser1109Arg) n.3145C>A n.3353C>A | |
| 1 | g.197435055C= | CA1218068771 | CRB1 | c.3192C= (p.Ser1064=) c.2073C= (p.Ser691=) c.1335C= (p.Ser445=) c.2856C= (p.Ser952=) c.3120C= (p.Ser1040=) c.2129-545C= (n.2129-545C=) n.3193C= n.3401C= c.2610C= (p.Ser870=) c.1635C= (p.Ser545=) c.2349C= (p.Ser783=) c.3327C= (p.Ser1109=) n.3145C= n.3353C= | |
| 1 | g.197435055C>G | CA344046530 | CRB1 | c.3192C>G (p.Ser1064Arg) c.2073C>G (p.Ser691Arg) c.1335C>G (p.Ser445Arg) c.2856C>G (p.Ser952Arg) c.3120C>G (p.Ser1040Arg) c.2129-545C>G (n.2129-545C>G) n.3193C>G n.3401C>G c.2610C>G (p.Ser870Arg) c.1635C>G (p.Ser545Arg) c.2349C>G (p.Ser783Arg) c.3327C>G (p.Ser1109Arg) n.3145C>G n.3353C>G | |
| 1 | g.197435055C>T | CA422809166 | CRB1 | c.3192C>T (p.Ser1064=) c.2073C>T (p.Ser691=) c.1335C>T (p.Ser445=) c.2856C>T (p.Ser952=) c.3120C>T (p.Ser1040=) c.2129-545C>T (n.2129-545C>T) n.3193C>T n.3401C>T c.2610C>T (p.Ser870=) c.1635C>T (p.Ser545=) c.2349C>T (p.Ser783=) c.3327C>T (p.Ser1109=) n.3145C>T n.3353C>T | dbSNP COSMIC |
| 1 | g.197435056A= | CA1218068773 | CRB1 | c.3193A= (p.Thr1065=) c.2074A= (p.Thr692=) c.1336A= (p.Thr446=) c.2857A= (p.Thr953=) c.3121A= (p.Thr1041=) c.2129-544A= (n.2129-544A=) n.3194A= n.3402A= c.2611A= (p.Thr871=) c.1636A= (p.Thr546=) c.2350A= (p.Thr784=) c.3328A= (p.Thr1110=) n.3146A= n.3354A= | |
| 1 | g.197435056A>C | CA344046534 | CRB1 | c.3193A>C (p.Thr1065Pro) c.2074A>C (p.Thr692Pro) c.1336A>C (p.Thr446Pro) c.2857A>C (p.Thr953Pro) c.3121A>C (p.Thr1041Pro) c.2129-544A>C (n.2129-544A>C) n.3194A>C n.3402A>C c.2611A>C (p.Thr871Pro) c.1636A>C (p.Thr546Pro) c.2350A>C (p.Thr784Pro) c.3328A>C (p.Thr1110Pro) n.3146A>C n.3354A>C | |
| 1 | g.197435056A>G | CA1312291 | CRB1 | c.3193A>G (p.Thr1065Ala) c.2074A>G (p.Thr692Ala) c.1336A>G (p.Thr446Ala) c.2857A>G (p.Thr953Ala) c.3121A>G (p.Thr1041Ala) c.2129-544A>G (n.2129-544A>G) n.3194A>G n.3402A>G c.2611A>G (p.Thr871Ala) c.1636A>G (p.Thr546Ala) c.2350A>G (p.Thr784Ala) c.3328A>G (p.Thr1110Ala) n.3146A>G n.3354A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197435056A>T | CA344046535 | CRB1 | c.3193A>T (p.Thr1065Ser) c.2074A>T (p.Thr692Ser) c.1336A>T (p.Thr446Ser) c.2857A>T (p.Thr953Ser) c.3121A>T (p.Thr1041Ser) c.2129-544A>T (n.2129-544A>T) n.3194A>T n.3402A>T c.2611A>T (p.Thr871Ser) c.1636A>T (p.Thr546Ser) c.2350A>T (p.Thr784Ser) c.3328A>T (p.Thr1110Ser) n.3146A>T n.3354A>T | |
| 1 | g.197435056_197435057delinsAC | CA1218068772 | CRB1 | c.3193_3194delinsAC (p.Thr1065=) c.2074_2075delinsAC (p.Thr692=) c.1336_1337delinsAC (p.Thr446=) c.2857_2858delinsAC (p.Thr953=) c.3121_3122delinsAC (p.Thr1041=) c.2129-544_2129-543delinsAC (n.2129-544_2129-543delinsAC) n.3194_3195delinsAC n.3402_3403delinsAC c.2611_2612delinsAC (p.Thr871=) c.1636_1637delinsAC (p.Thr546=) c.2350_2351delinsAC (p.Thr784=) c.3328_3329delinsAC (p.Thr1110=) n.3146_3147delinsAC n.3354_3355delinsAC | |
| 1 | g.197435057del | CA1312292 | CRB1 | c.3194del (p.Thr1065LysfsTer10) c.2075del (p.Thr692LysfsTer10) c.1337del (p.Thr446LysfsTer10) c.2858del (p.Thr953LysfsTer10) c.3122del (p.Thr1041LysfsTer10) c.2129-543del (n.2129-543del) n.3195del n.3403del c.2612del (p.Thr871LysfsTer10) c.1637del (p.Thr546LysfsTer10) c.2351del (p.Thr784LysfsTer10) c.3329del (p.Thr1110LysfsTer10) n.3147del n.3355del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197435057C>A | CA344046538 | CRB1 | c.3194C>A (p.Thr1065Lys) c.2075C>A (p.Thr692Lys) c.1337C>A (p.Thr446Lys) c.2858C>A (p.Thr953Lys) c.3122C>A (p.Thr1041Lys) c.2129-543C>A (n.2129-543C>A) n.3195C>A n.3403C>A c.2612C>A (p.Thr871Lys) c.1637C>A (p.Thr546Lys) c.2351C>A (p.Thr784Lys) c.3329C>A (p.Thr1110Lys) n.3147C>A n.3355C>A | |
| 1 | g.197435057C>G | CA344046540 | CRB1 | c.3194C>G (p.Thr1065Arg) c.2075C>G (p.Thr692Arg) c.1337C>G (p.Thr446Arg) c.2858C>G (p.Thr953Arg) c.3122C>G (p.Thr1041Arg) c.2129-543C>G (n.2129-543C>G) n.3195C>G n.3403C>G c.2612C>G (p.Thr871Arg) c.1637C>G (p.Thr546Arg) c.2351C>G (p.Thr784Arg) c.3329C>G (p.Thr1110Arg) n.3147C>G n.3355C>G | |
| 1 | g.197435057C>T | CA344046542 | CRB1 | c.3194C>T (p.Thr1065Ile) c.2075C>T (p.Thr692Ile) c.1337C>T (p.Thr446Ile) c.2858C>T (p.Thr953Ile) c.3122C>T (p.Thr1041Ile) c.2129-543C>T (n.2129-543C>T) n.3195C>T n.3403C>T c.2612C>T (p.Thr871Ile) c.1637C>T (p.Thr546Ile) c.2351C>T (p.Thr784Ile) c.3329C>T (p.Thr1110Ile) n.3147C>T n.3355C>T | |
| 1 | g.197435058A= | CA1218068774 | CRB1 | c.3195A= (p.Thr1065=) c.2076A= (p.Thr692=) c.1338A= (p.Thr446=) c.2859A= (p.Thr953=) c.3123A= (p.Thr1041=) c.2129-542A= (n.2129-542A=) n.3196A= n.3404A= c.2613A= (p.Thr871=) c.1638A= (p.Thr546=) c.2352A= (p.Thr784=) c.3330A= (p.Thr1110=) n.3148A= n.3356A= | |
| 1 | g.197435058A>C | CA422809178 | CRB1 | c.3195A>C (p.Thr1065=) c.2076A>C (p.Thr692=) c.1338A>C (p.Thr446=) c.2859A>C (p.Thr953=) c.3123A>C (p.Thr1041=) c.2129-542A>C (n.2129-542A>C) n.3196A>C n.3404A>C c.2613A>C (p.Thr871=) c.1638A>C (p.Thr546=) c.2352A>C (p.Thr784=) c.3330A>C (p.Thr1110=) n.3148A>C n.3356A>C | |
| 1 | g.197435058A>G | CA422809179 | CRB1 | c.3195A>G (p.Thr1065=) c.2076A>G (p.Thr692=) c.1338A>G (p.Thr446=) c.2859A>G (p.Thr953=) c.3123A>G (p.Thr1041=) c.2129-542A>G (n.2129-542A>G) n.3196A>G n.3404A>G c.2613A>G (p.Thr871=) c.1638A>G (p.Thr546=) c.2352A>G (p.Thr784=) c.3330A>G (p.Thr1110=) n.3148A>G n.3356A>G | ClinVar dbSNP |
| 1 | g.197435058A>T | CA422809180 | CRB1 | c.3195A>T (p.Thr1065=) c.2076A>T (p.Thr692=) c.1338A>T (p.Thr446=) c.2859A>T (p.Thr953=) c.3123A>T (p.Thr1041=) c.2129-542A>T (n.2129-542A>T) n.3196A>T n.3404A>T c.2613A>T (p.Thr871=) c.1638A>T (p.Thr546=) c.2352A>T (p.Thr784=) c.3330A>T (p.Thr1110=) n.3148A>T n.3356A>T | |
| 1 | g.197435059A= | CA1218068775 | CRB1 | c.3196A= (p.Ile1066=) c.2077A= (p.Ile693=) c.1339A= (p.Ile447=) c.2860A= (p.Ile954=) c.3124A= (p.Ile1042=) c.2129-541A= (n.2129-541A=) n.3197A= n.3405A= c.2614A= (p.Ile872=) c.1639A= (p.Ile547=) c.2353A= (p.Ile785=) c.3331A= (p.Ile1111=) n.3149A= n.3357A= | |
| 1 | g.197435059A>C | CA344046545 | CRB1 | c.3196A>C (p.Ile1066Leu) c.2077A>C (p.Ile693Leu) c.1339A>C (p.Ile447Leu) c.2860A>C (p.Ile954Leu) c.3124A>C (p.Ile1042Leu) c.2129-541A>C (n.2129-541A>C) n.3197A>C n.3405A>C c.2614A>C (p.Ile872Leu) c.1639A>C (p.Ile547Leu) c.2353A>C (p.Ile785Leu) c.3331A>C (p.Ile1111Leu) n.3149A>C n.3357A>C | |
| 1 | g.197435059A>G | CA35907122 | CRB1 | c.3196A>G (p.Ile1066Val) c.2077A>G (p.Ile693Val) c.1339A>G (p.Ile447Val) c.2860A>G (p.Ile954Val) c.3124A>G (p.Ile1042Val) c.2129-541A>G (n.2129-541A>G) n.3197A>G n.3405A>G c.2614A>G (p.Ile872Val) c.1639A>G (p.Ile547Val) c.2353A>G (p.Ile785Val) c.3331A>G (p.Ile1111Val) n.3149A>G n.3357A>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197435059A>T | CA344046549 | CRB1 | c.3196A>T (p.Ile1066Phe) c.2077A>T (p.Ile693Phe) c.1339A>T (p.Ile447Phe) c.2860A>T (p.Ile954Phe) c.3124A>T (p.Ile1042Phe) c.2129-541A>T (n.2129-541A>T) n.3197A>T n.3405A>T c.2614A>T (p.Ile872Phe) c.1639A>T (p.Ile547Phe) c.2353A>T (p.Ile785Phe) c.3331A>T (p.Ile1111Phe) n.3149A>T n.3357A>T | |
| 1 | g.197435060T>A | CA344046552 | CRB1 | c.3197T>A (p.Ile1066Asn) c.2078T>A (p.Ile693Asn) c.1340T>A (p.Ile447Asn) c.2861T>A (p.Ile954Asn) c.3125T>A (p.Ile1042Asn) c.2129-540T>A (n.2129-540T>A) n.3198T>A n.3406T>A c.2615T>A (p.Ile872Asn) c.1640T>A (p.Ile547Asn) c.2354T>A (p.Ile785Asn) c.3332T>A (p.Ile1111Asn) n.3150T>A n.3358T>A | |
| 1 | g.197435060T>C | CA344046553 | CRB1 | c.3197T>C (p.Ile1066Thr) c.2078T>C (p.Ile693Thr) c.1340T>C (p.Ile447Thr) c.2861T>C (p.Ile954Thr) c.3125T>C (p.Ile1042Thr) c.2129-540T>C (n.2129-540T>C) n.3198T>C n.3406T>C c.2615T>C (p.Ile872Thr) c.1640T>C (p.Ile547Thr) c.2354T>C (p.Ile785Thr) c.3332T>C (p.Ile1111Thr) n.3150T>C n.3358T>C | |
| 1 | g.197435060T>G | CA344046555 | CRB1 | c.3197T>G (p.Ile1066Ser) c.2078T>G (p.Ile693Ser) c.1340T>G (p.Ile447Ser) c.2861T>G (p.Ile954Ser) c.3125T>G (p.Ile1042Ser) c.2129-540T>G (n.2129-540T>G) n.3198T>G n.3406T>G c.2615T>G (p.Ile872Ser) c.1640T>G (p.Ile547Ser) c.2354T>G (p.Ile785Ser) c.3332T>G (p.Ile1111Ser) n.3150T>G n.3358T>G | |
| 1 | g.197435061T>A | CA422809184 | CRB1 | c.3198T>A (p.Ile1066=) c.2079T>A (p.Ile693=) c.1341T>A (p.Ile447=) c.2862T>A (p.Ile954=) c.3126T>A (p.Ile1042=) c.2129-539T>A (n.2129-539T>A) n.3199T>A n.3407T>A c.2616T>A (p.Ile872=) c.1641T>A (p.Ile547=) c.2355T>A (p.Ile785=) c.3333T>A (p.Ile1111=) n.3151T>A n.3359T>A | |
| 1 | g.197435061T>C | CA422809187 | CRB1 | c.3198T>C (p.Ile1066=) c.2079T>C (p.Ile693=) c.1341T>C (p.Ile447=) c.2862T>C (p.Ile954=) c.3126T>C (p.Ile1042=) c.2129-539T>C (n.2129-539T>C) n.3199T>C n.3407T>C c.2616T>C (p.Ile872=) c.1641T>C (p.Ile547=) c.2355T>C (p.Ile785=) c.3333T>C (p.Ile1111=) n.3151T>C n.3359T>C | |
| 1 | g.197435061T>G | CA344046557 | CRB1 | c.3198T>G (p.Ile1066Met) c.2079T>G (p.Ile693Met) c.1341T>G (p.Ile447Met) c.2862T>G (p.Ile954Met) c.3126T>G (p.Ile1042Met) c.2129-539T>G (n.2129-539T>G) n.3199T>G n.3407T>G c.2616T>G (p.Ile872Met) c.1641T>G (p.Ile547Met) c.2355T>G (p.Ile785Met) c.3333T>G (p.Ile1111Met) n.3151T>G n.3359T>G | |
| 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 |