Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.197435101A>C | CA344046778 | CRB1 | c.3238A>C (p.Ile1080Leu) c.2119A>C (p.Ile707Leu) c.1381A>C (p.Ile461Leu) c.2902A>C (p.Ile968Leu) c.3166A>C (p.Ile1056Leu) c.2129-499A>C (n.2129-499A>C) n.3239A>C n.3447A>C c.2656A>C (p.Ile886Leu) c.1681A>C (p.Ile561Leu) c.2395A>C (p.Ile799Leu) c.3373A>C (p.Ile1125Leu) n.3191A>C n.3399A>C | |
1 | g.197435101A>G | CA344046780 | CRB1 | c.3238A>G (p.Ile1080Val) c.2119A>G (p.Ile707Val) c.1381A>G (p.Ile461Val) c.2902A>G (p.Ile968Val) c.3166A>G (p.Ile1056Val) c.2129-499A>G (n.2129-499A>G) n.3239A>G n.3447A>G c.2656A>G (p.Ile886Val) c.1681A>G (p.Ile561Val) c.2395A>G (p.Ile799Val) c.3373A>G (p.Ile1125Val) n.3191A>G n.3399A>G | |
1 | g.197435101A>T | CA344046781 | CRB1 | c.3238A>T (p.Ile1080Phe) c.2119A>T (p.Ile707Phe) c.1381A>T (p.Ile461Phe) c.2902A>T (p.Ile968Phe) c.3166A>T (p.Ile1056Phe) c.2129-499A>T (n.2129-499A>T) n.3239A>T n.3447A>T c.2656A>T (p.Ile886Phe) c.1681A>T (p.Ile561Phe) c.2395A>T (p.Ile799Phe) c.3373A>T (p.Ile1125Phe) n.3191A>T n.3399A>T | |
1 | g.197435102T>A | CA344046784 | CRB1 | c.3239T>A (p.Ile1080Asn) c.2120T>A (p.Ile707Asn) c.1382T>A (p.Ile461Asn) c.2903T>A (p.Ile968Asn) c.3167T>A (p.Ile1056Asn) c.2129-498T>A (n.2129-498T>A) n.3240T>A n.3448T>A c.2657T>A (p.Ile886Asn) c.1682T>A (p.Ile561Asn) c.2396T>A (p.Ile799Asn) c.3374T>A (p.Ile1125Asn) n.3192T>A n.3400T>A | |
1 | g.197435102T>C | CA1312299 | CRB1 | c.3239T>C (p.Ile1080Thr) c.2120T>C (p.Ile707Thr) c.1382T>C (p.Ile461Thr) c.2903T>C (p.Ile968Thr) c.3167T>C (p.Ile1056Thr) c.2129-498T>C (n.2129-498T>C) n.3240T>C n.3448T>C c.2657T>C (p.Ile886Thr) c.1682T>C (p.Ile561Thr) c.2396T>C (p.Ile799Thr) c.3374T>C (p.Ile1125Thr) n.3192T>C n.3400T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197435102T>G | CA344046786 | CRB1 | c.3239T>G (p.Ile1080Ser) c.2120T>G (p.Ile707Ser) c.1382T>G (p.Ile461Ser) c.2903T>G (p.Ile968Ser) c.3167T>G (p.Ile1056Ser) c.2129-498T>G (n.2129-498T>G) n.3240T>G n.3448T>G c.2657T>G (p.Ile886Ser) c.1682T>G (p.Ile561Ser) c.2396T>G (p.Ile799Ser) c.3374T>G (p.Ile1125Ser) n.3192T>G n.3400T>G | |
1 | g.197435102T= | CA1218068796 | CRB1 | c.3239T= (p.Ile1080=) c.2120T= (p.Ile707=) c.1382T= (p.Ile461=) c.2903T= (p.Ile968=) c.3167T= (p.Ile1056=) c.2129-498T= (n.2129-498T=) n.3240T= n.3448T= c.2657T= (p.Ile886=) c.1682T= (p.Ile561=) c.2396T= (p.Ile799=) c.3374T= (p.Ile1125=) n.3192T= n.3400T= | |
1 | g.197435103T>A | CA422809312 | CRB1 | c.3240T>A (p.Ile1080=) c.2121T>A (p.Ile707=) c.1383T>A (p.Ile461=) c.2904T>A (p.Ile968=) c.3168T>A (p.Ile1056=) c.2129-497T>A (n.2129-497T>A) n.3241T>A n.3449T>A c.2658T>A (p.Ile886=) c.1683T>A (p.Ile561=) c.2397T>A (p.Ile799=) c.3375T>A (p.Ile1125=) n.3193T>A n.3401T>A | |
1 | g.197435103T>C | CA422809314 | CRB1 | c.3240T>C (p.Ile1080=) c.2121T>C (p.Ile707=) c.1383T>C (p.Ile461=) c.2904T>C (p.Ile968=) c.3168T>C (p.Ile1056=) c.2129-497T>C (n.2129-497T>C) n.3241T>C n.3449T>C c.2658T>C (p.Ile886=) c.1683T>C (p.Ile561=) c.2397T>C (p.Ile799=) c.3375T>C (p.Ile1125=) n.3193T>C n.3401T>C | |
1 | g.197435103T>G | CA344046791 | CRB1 | c.3240T>G (p.Ile1080Met) c.2121T>G (p.Ile707Met) c.1383T>G (p.Ile461Met) c.2904T>G (p.Ile968Met) c.3168T>G (p.Ile1056Met) c.2129-497T>G (n.2129-497T>G) n.3241T>G n.3449T>G c.2658T>G (p.Ile886Met) c.1683T>G (p.Ile561Met) c.2397T>G (p.Ile799Met) c.3375T>G (p.Ile1125Met) n.3193T>G n.3401T>G | |
1 | g.197435104T>A | CA344046797 | CRB1 | c.3241T>A (p.Tyr1081Asn) c.2122T>A (p.Tyr708Asn) c.1384T>A (p.Tyr462Asn) c.2905T>A (p.Tyr969Asn) c.3169T>A (p.Tyr1057Asn) c.2129-496T>A (n.2129-496T>A) n.3242T>A n.3450T>A c.2659T>A (p.Tyr887Asn) c.1684T>A (p.Tyr562Asn) c.2398T>A (p.Tyr800Asn) c.3376T>A (p.Tyr1126Asn) n.3194T>A n.3402T>A | |
1 | g.197435104T>C | CA344046794 | CRB1 | c.3241T>C (p.Tyr1081His) c.2122T>C (p.Tyr708His) c.1384T>C (p.Tyr462His) c.2905T>C (p.Tyr969His) c.3169T>C (p.Tyr1057His) c.2129-496T>C (n.2129-496T>C) n.3242T>C n.3450T>C c.2659T>C (p.Tyr887His) c.1684T>C (p.Tyr562His) c.2398T>C (p.Tyr800His) c.3376T>C (p.Tyr1126His) n.3194T>C n.3402T>C | ClinVar dbSNP |
1 | g.197435104T>G | CA344046796 | CRB1 | c.3241T>G (p.Tyr1081Asp) c.2122T>G (p.Tyr708Asp) c.1384T>G (p.Tyr462Asp) c.2905T>G (p.Tyr969Asp) c.3169T>G (p.Tyr1057Asp) c.2129-496T>G (n.2129-496T>G) n.3242T>G n.3450T>G c.2659T>G (p.Tyr887Asp) c.1684T>G (p.Tyr562Asp) c.2398T>G (p.Tyr800Asp) c.3376T>G (p.Tyr1126Asp) n.3194T>G n.3402T>G | |
1 | g.197435105A>C | CA344046799 | CRB1 | c.3242A>C (p.Tyr1081Ser) c.2123A>C (p.Tyr708Ser) c.1385A>C (p.Tyr462Ser) c.2906A>C (p.Tyr969Ser) c.3170A>C (p.Tyr1057Ser) c.2129-495A>C (n.2129-495A>C) n.3243A>C n.3451A>C c.2660A>C (p.Tyr887Ser) c.1685A>C (p.Tyr562Ser) c.2399A>C (p.Tyr800Ser) c.3377A>C (p.Tyr1126Ser) n.3195A>C n.3403A>C | |
1 | g.197435105A>G | CA344046801 | CRB1 | c.3242A>G (p.Tyr1081Cys) c.2123A>G (p.Tyr708Cys) c.1385A>G (p.Tyr462Cys) c.2906A>G (p.Tyr969Cys) c.3170A>G (p.Tyr1057Cys) c.2129-495A>G (n.2129-495A>G) n.3243A>G n.3451A>G c.2660A>G (p.Tyr887Cys) c.1685A>G (p.Tyr562Cys) c.2399A>G (p.Tyr800Cys) c.3377A>G (p.Tyr1126Cys) n.3195A>G n.3403A>G | |
1 | g.197435105A>T | CA344046803 | CRB1 | c.3242A>T (p.Tyr1081Phe) c.2123A>T (p.Tyr708Phe) c.1385A>T (p.Tyr462Phe) c.2906A>T (p.Tyr969Phe) c.3170A>T (p.Tyr1057Phe) c.2129-495A>T (n.2129-495A>T) n.3243A>T n.3451A>T c.2660A>T (p.Tyr887Phe) c.1685A>T (p.Tyr562Phe) c.2399A>T (p.Tyr800Phe) c.3377A>T (p.Tyr1126Phe) n.3195A>T n.3403A>T | |
1 | g.197435106T>A | CA344046805 | CRB1 | c.3243T>A (p.Tyr1081Ter) c.2124T>A (p.Tyr708Ter) c.1386T>A (p.Tyr462Ter) c.2907T>A (p.Tyr969Ter) c.3171T>A (p.Tyr1057Ter) c.2129-494T>A (n.2129-494T>A) n.3244T>A n.3452T>A c.2661T>A (p.Tyr887Ter) c.1686T>A (p.Tyr562Ter) c.2400T>A (p.Tyr800Ter) c.3378T>A (p.Tyr1126Ter) n.3196T>A n.3404T>A | |
1 | g.197435106T>C | CA422809324 | CRB1 | c.3243T>C (p.Tyr1081=) c.2124T>C (p.Tyr708=) c.1386T>C (p.Tyr462=) c.2907T>C (p.Tyr969=) c.3171T>C (p.Tyr1057=) c.2129-494T>C (n.2129-494T>C) n.3244T>C n.3452T>C c.2661T>C (p.Tyr887=) c.1686T>C (p.Tyr562=) c.2400T>C (p.Tyr800=) c.3378T>C (p.Tyr1126=) n.3196T>C n.3404T>C | ClinVar dbSNP gnomAD v4 |
1 | g.197435106T>G | CA344046807 | CRB1 | c.3243T>G (p.Tyr1081Ter) c.2124T>G (p.Tyr708Ter) c.1386T>G (p.Tyr462Ter) c.2907T>G (p.Tyr969Ter) c.3171T>G (p.Tyr1057Ter) c.2129-494T>G (n.2129-494T>G) n.3244T>G n.3452T>G c.2661T>G (p.Tyr887Ter) c.1686T>G (p.Tyr562Ter) c.2400T>G (p.Tyr800Ter) c.3378T>G (p.Tyr1126Ter) n.3196T>G n.3404T>G | |
1 | g.197435106T= | CA1218068797 | CRB1 | c.3243T= (p.Tyr1081=) c.2124T= (p.Tyr708=) c.1386T= (p.Tyr462=) c.2907T= (p.Tyr969=) c.3171T= (p.Tyr1057=) c.2129-494T= (n.2129-494T=) n.3244T= n.3452T= c.2661T= (p.Tyr887=) c.1686T= (p.Tyr562=) c.2400T= (p.Tyr800=) c.3378T= (p.Tyr1126=) n.3196T= n.3404T= | |
1 | g.197435107G>A | CA1312300 | CRB1 | c.3244G>A (p.Val1082Met) c.2125G>A (p.Val709Met) c.1387G>A (p.Val463Met) c.2908G>A (p.Val970Met) c.3172G>A (p.Val1058Met) c.2129-493G>A (n.2129-493G>A) n.3245G>A n.3453G>A c.2662G>A (p.Val888Met) c.1687G>A (p.Val563Met) c.2401G>A (p.Val801Met) c.3379G>A (p.Val1127Met) n.3197G>A n.3405G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197435107G>C | CA344046810 | CRB1 | c.3244G>C (p.Val1082Leu) c.2125G>C (p.Val709Leu) c.1387G>C (p.Val463Leu) c.2908G>C (p.Val970Leu) c.3172G>C (p.Val1058Leu) c.2129-493G>C (n.2129-493G>C) n.3245G>C n.3453G>C c.2662G>C (p.Val888Leu) c.1687G>C (p.Val563Leu) c.2401G>C (p.Val801Leu) c.3379G>C (p.Val1127Leu) n.3197G>C n.3405G>C | |
1 | g.197435107G= | CA1147340023 | CRB1 | c.3244G= (p.Val1082=) c.2125G= (p.Val709=) c.1387G= (p.Val463=) c.2908G= (p.Val970=) c.3172G= (p.Val1058=) c.2129-493G= (n.2129-493G=) n.3245G= n.3453G= c.2662G= (p.Val888=) c.1687G= (p.Val563=) c.2401G= (p.Val801=) c.3379G= (p.Val1127=) n.3197G= n.3405G= | |
1 | g.197435107G>T | CA344046812 | CRB1 | c.3244G>T (p.Val1082Leu) c.2125G>T (p.Val709Leu) c.1387G>T (p.Val463Leu) c.2908G>T (p.Val970Leu) c.3172G>T (p.Val1058Leu) c.2129-493G>T (n.2129-493G>T) n.3245G>T n.3453G>T c.2662G>T (p.Val888Leu) c.1687G>T (p.Val563Leu) c.2401G>T (p.Val801Leu) c.3379G>T (p.Val1127Leu) n.3197G>T n.3405G>T | |
1 | g.197435108T>A | CA344046815 | CRB1 | c.3245T>A (p.Val1082Glu) c.2126T>A (p.Val709Glu) c.1388T>A (p.Val463Glu) c.2909T>A (p.Val970Glu) c.3173T>A (p.Val1058Glu) c.2129-492T>A (n.2129-492T>A) n.3246T>A n.3454T>A c.2663T>A (p.Val888Glu) c.1688T>A (p.Val563Glu) c.2402T>A (p.Val801Glu) c.3380T>A (p.Val1127Glu) n.3198T>A n.3406T>A | |
1 | g.197435108T>C | CA344046816 | CRB1 | c.3245T>C (p.Val1082Ala) c.2126T>C (p.Val709Ala) c.1388T>C (p.Val463Ala) c.2909T>C (p.Val970Ala) c.3173T>C (p.Val1058Ala) c.2129-492T>C (n.2129-492T>C) n.3246T>C n.3454T>C c.2663T>C (p.Val888Ala) c.1688T>C (p.Val563Ala) c.2402T>C (p.Val801Ala) c.3380T>C (p.Val1127Ala) n.3198T>C n.3406T>C | |
1 | g.197435108T>G | CA344046819 | CRB1 | c.3245T>G (p.Val1082Gly) c.2126T>G (p.Val709Gly) c.1388T>G (p.Val463Gly) c.2909T>G (p.Val970Gly) c.3173T>G (p.Val1058Gly) c.2129-492T>G (n.2129-492T>G) n.3246T>G n.3454T>G c.2663T>G (p.Val888Gly) c.1688T>G (p.Val563Gly) c.2402T>G (p.Val801Gly) c.3380T>G (p.Val1127Gly) n.3198T>G n.3406T>G | |
1 | g.197435109G>A | CA422809330 | CRB1 | c.3246G>A (p.Val1082=) c.2127G>A (p.Val709=) c.1389G>A (p.Val463=) c.2910G>A (p.Val970=) c.3174G>A (p.Val1058=) c.2129-491G>A (n.2129-491G>A) n.3247G>A n.3455G>A c.2664G>A (p.Val888=) c.1689G>A (p.Val563=) c.2403G>A (p.Val801=) c.3381G>A (p.Val1127=) n.3199G>A n.3407G>A | |
1 | g.197435109G>C | CA422809331 | CRB1 | c.3246G>C (p.Val1082=) c.2127G>C (p.Val709=) c.1389G>C (p.Val463=) c.2910G>C (p.Val970=) c.3174G>C (p.Val1058=) c.2129-491G>C (n.2129-491G>C) n.3247G>C n.3455G>C c.2664G>C (p.Val888=) c.1689G>C (p.Val563=) c.2403G>C (p.Val801=) c.3381G>C (p.Val1127=) n.3199G>C n.3407G>C | |
1 | g.197435109G>T | CA422809333 | CRB1 | c.3246G>T (p.Val1082=) c.2127G>T (p.Val709=) c.1389G>T (p.Val463=) c.2910G>T (p.Val970=) c.3174G>T (p.Val1058=) c.2129-491G>T (n.2129-491G>T) n.3247G>T n.3455G>T c.2664G>T (p.Val888=) c.1689G>T (p.Val563=) c.2403G>T (p.Val801=) c.3381G>T (p.Val1127=) n.3199G>T n.3407G>T | |
1 | g.197435110G>A | CA1312301 | CRB1 | c.3247G>A (p.Gly1083Arg) c.2128G>A (p.Gly710Arg) c.1390G>A (p.Gly464Arg) c.2911G>A (p.Gly971Arg) c.3175G>A (p.Gly1059Arg) c.2129-490G>A (n.2129-490G>A) n.3248G>A n.3456G>A c.2665G>A (p.Gly889Arg) c.1690G>A (p.Gly564Arg) c.2404G>A (p.Gly802Arg) c.3382G>A (p.Gly1128Arg) n.3200G>A n.3408G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197435110G>C | CA344046821 | CRB1 | c.3247G>C (p.Gly1083Arg) c.2128G>C (p.Gly710Arg) c.1390G>C (p.Gly464Arg) c.2911G>C (p.Gly971Arg) c.3175G>C (p.Gly1059Arg) c.2129-490G>C (n.2129-490G>C) n.3248G>C n.3456G>C c.2665G>C (p.Gly889Arg) c.1690G>C (p.Gly564Arg) c.2404G>C (p.Gly802Arg) c.3382G>C (p.Gly1128Arg) n.3200G>C n.3408G>C | |
1 | g.197435110G= | CA1149131823 | CRB1 | c.3247G= (p.Gly1083=) c.2128G= (p.Gly710=) c.1390G= (p.Gly464=) c.2911G= (p.Gly971=) c.3175G= (p.Gly1059=) c.2129-490G= (n.2129-490G=) n.3248G= n.3456G= c.2665G= (p.Gly889=) c.1690G= (p.Gly564=) c.2404G= (p.Gly802=) c.3382G= (p.Gly1128=) n.3200G= n.3408G= | |
1 | g.197435110G>T | CA344046824 | CRB1 | c.3247G>T (p.Gly1083Ter) c.2128G>T (p.Gly710Ter) c.1390G>T (p.Gly464Ter) c.2911G>T (p.Gly971Ter) c.3175G>T (p.Gly1059Ter) c.2129-490G>T (n.2129-490G>T) n.3248G>T n.3456G>T c.2665G>T (p.Gly889Ter) c.1690G>T (p.Gly564Ter) c.2404G>T (p.Gly802Ter) c.3382G>T (p.Gly1128Ter) n.3200G>T n.3408G>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197435111G>A | CA344046828 | CRB1 | c.3248G>A (p.Gly1083Glu) c.2129G>A (p.Gly710Glu) c.1391G>A (p.Gly464Glu) c.2912G>A (p.Gly971Glu) c.3176G>A (p.Gly1059Glu) c.2129-489G>A (n.2129-489G>A) n.3249G>A n.3457G>A c.2666G>A (p.Gly889Glu) c.1691G>A (p.Gly564Glu) c.2405G>A (p.Gly802Glu) c.3383G>A (p.Gly1128Glu) n.3201G>A n.3409G>A | |
1 | g.197435111G>C | CA344046830 | CRB1 | c.3248G>C (p.Gly1083Ala) c.2129G>C (p.Gly710Ala) c.1391G>C (p.Gly464Ala) c.2912G>C (p.Gly971Ala) c.3176G>C (p.Gly1059Ala) c.2129-489G>C (n.2129-489G>C) n.3249G>C n.3457G>C c.2666G>C (p.Gly889Ala) c.1691G>C (p.Gly564Ala) c.2405G>C (p.Gly802Ala) c.3383G>C (p.Gly1128Ala) n.3201G>C n.3409G>C | dbSNP gnomAD v4 |
1 | g.197435111G= | CA1218068798 | CRB1 | c.3248G= (p.Gly1083=) c.2129G= (p.Gly710=) c.1391G= (p.Gly464=) c.2912G= (p.Gly971=) c.3176G= (p.Gly1059=) c.2129-489G= (n.2129-489G=) n.3249G= n.3457G= c.2666G= (p.Gly889=) c.1691G= (p.Gly564=) c.2405G= (p.Gly802=) c.3383G= (p.Gly1128=) n.3201G= n.3409G= | |
1 | g.197435111G>T | CA344046832 | CRB1 | c.3248G>T (p.Gly1083Val) c.2129G>T (p.Gly710Val) c.1391G>T (p.Gly464Val) c.2912G>T (p.Gly971Val) c.3176G>T (p.Gly1059Val) c.2129-489G>T (n.2129-489G>T) n.3249G>T n.3457G>T c.2666G>T (p.Gly889Val) c.1691G>T (p.Gly564Val) c.2405G>T (p.Gly802Val) c.3383G>T (p.Gly1128Val) n.3201G>T n.3409G>T | |
1 | g.197435112A= | CA1218068799 | CRB1 | c.3249A= (p.Gly1083=) c.2130A= (p.Gly710=) c.1392A= (p.Gly464=) c.2913A= (p.Gly971=) c.3177A= (p.Gly1059=) c.2129-488A= (n.2129-488A=) n.3250A= n.3458A= c.2667A= (p.Gly889=) c.1692A= (p.Gly564=) c.2406A= (p.Gly802=) c.3384A= (p.Gly1128=) n.3202A= n.3410A= | |
1 | g.197435112A>C | CA35907241 | CRB1 | c.3249A>C (p.Gly1083=) c.2130A>C (p.Gly710=) c.1392A>C (p.Gly464=) c.2913A>C (p.Gly971=) c.3177A>C (p.Gly1059=) c.2129-488A>C (n.2129-488A>C) n.3250A>C n.3458A>C c.2667A>C (p.Gly889=) c.1692A>C (p.Gly564=) c.2406A>C (p.Gly802=) c.3384A>C (p.Gly1128=) n.3202A>C n.3410A>C | dbSNP |
1 | g.197435112A>G | CA422809350 | CRB1 | c.3249A>G (p.Gly1083=) c.2130A>G (p.Gly710=) c.1392A>G (p.Gly464=) c.2913A>G (p.Gly971=) c.3177A>G (p.Gly1059=) c.2129-488A>G (n.2129-488A>G) n.3250A>G n.3458A>G c.2667A>G (p.Gly889=) c.1692A>G (p.Gly564=) c.2406A>G (p.Gly802=) c.3384A>G (p.Gly1128=) n.3202A>G n.3410A>G | |
1 | g.197435112A>T | CA422809347 | CRB1 | c.3249A>T (p.Gly1083=) c.2130A>T (p.Gly710=) c.1392A>T (p.Gly464=) c.2913A>T (p.Gly971=) c.3177A>T (p.Gly1059=) c.2129-488A>T (n.2129-488A>T) n.3250A>T n.3458A>T c.2667A>T (p.Gly889=) c.1692A>T (p.Gly564=) c.2406A>T (p.Gly802=) c.3384A>T (p.Gly1128=) n.3202A>T n.3410A>T | |
1 | g.197435113G>A | CA1312302 | CRB1 | c.3250G>A (p.Asp1084Asn) c.2131G>A (p.Asp711Asn) c.1393G>A (p.Asp465Asn) c.2914G>A (p.Asp972Asn) c.3178G>A (p.Asp1060Asn) c.2129-487G>A (n.2129-487G>A) n.3251G>A n.3459G>A c.2668G>A (p.Asp890Asn) c.1693G>A (p.Asp565Asn) c.2407G>A (p.Asp803Asn) c.3385G>A (p.Asp1129Asn) n.3203G>A n.3411G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197435113G>C | CA344046837 | CRB1 | c.3250G>C (p.Asp1084His) c.2131G>C (p.Asp711His) c.1393G>C (p.Asp465His) c.2914G>C (p.Asp972His) c.3178G>C (p.Asp1060His) c.2129-487G>C (n.2129-487G>C) n.3251G>C n.3459G>C c.2668G>C (p.Asp890His) c.1693G>C (p.Asp565His) c.2407G>C (p.Asp803His) c.3385G>C (p.Asp1129His) n.3203G>C n.3411G>C | |
1 | g.197435113G= | CA1218068800 | CRB1 | c.3250G= (p.Asp1084=) c.2131G= (p.Asp711=) c.1393G= (p.Asp465=) c.2914G= (p.Asp972=) c.3178G= (p.Asp1060=) c.2129-487G= (n.2129-487G=) n.3251G= n.3459G= c.2668G= (p.Asp890=) c.1693G= (p.Asp565=) c.2407G= (p.Asp803=) c.3385G= (p.Asp1129=) n.3203G= n.3411G= | |
1 | g.197435113G>T | CA344046839 | CRB1 | c.3250G>T (p.Asp1084Tyr) c.2131G>T (p.Asp711Tyr) c.1393G>T (p.Asp465Tyr) c.2914G>T (p.Asp972Tyr) c.3178G>T (p.Asp1060Tyr) c.2129-487G>T (n.2129-487G>T) n.3251G>T n.3459G>T c.2668G>T (p.Asp890Tyr) c.1693G>T (p.Asp565Tyr) c.2407G>T (p.Asp803Tyr) c.3385G>T (p.Asp1129Tyr) n.3203G>T n.3411G>T | |
1 | g.197435114A= | CA1218068801 | CRB1 | c.3251A= (p.Asp1084=) c.2132A= (p.Asp711=) c.1394A= (p.Asp465=) c.2915A= (p.Asp972=) c.3179A= (p.Asp1060=) c.2129-486A= (n.2129-486A=) n.3252A= n.3460A= c.2669A= (p.Asp890=) c.1694A= (p.Asp565=) c.2408A= (p.Asp803=) c.3386A= (p.Asp1129=) n.3204A= n.3412A= | |
1 | g.197435114A>C | CA344046842 | CRB1 | c.3251A>C (p.Asp1084Ala) c.2132A>C (p.Asp711Ala) c.1394A>C (p.Asp465Ala) c.2915A>C (p.Asp972Ala) c.3179A>C (p.Asp1060Ala) c.2129-486A>C (n.2129-486A>C) n.3252A>C n.3460A>C c.2669A>C (p.Asp890Ala) c.1694A>C (p.Asp565Ala) c.2408A>C (p.Asp803Ala) c.3386A>C (p.Asp1129Ala) n.3204A>C n.3412A>C | |
1 | g.197435114A>G | CA1312303 | CRB1 | c.3251A>G (p.Asp1084Gly) c.2132A>G (p.Asp711Gly) c.1394A>G (p.Asp465Gly) c.2915A>G (p.Asp972Gly) c.3179A>G (p.Asp1060Gly) c.2129-486A>G (n.2129-486A>G) n.3252A>G n.3460A>G c.2669A>G (p.Asp890Gly) c.1694A>G (p.Asp565Gly) c.2408A>G (p.Asp803Gly) c.3386A>G (p.Asp1129Gly) n.3204A>G n.3412A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197435114A>T | CA344046845 | CRB1 | c.3251A>T (p.Asp1084Val) c.2132A>T (p.Asp711Val) c.1394A>T (p.Asp465Val) c.2915A>T (p.Asp972Val) c.3179A>T (p.Asp1060Val) c.2129-486A>T (n.2129-486A>T) n.3252A>T n.3460A>T c.2669A>T (p.Asp890Val) c.1694A>T (p.Asp565Val) c.2408A>T (p.Asp803Val) c.3386A>T (p.Asp1129Val) n.3204A>T n.3412A>T | |
1 | g.197435115C>A | CA344046848 | CRB1 | c.3252C>A (p.Asp1084Glu) c.2133C>A (p.Asp711Glu) c.1395C>A (p.Asp465Glu) c.2916C>A (p.Asp972Glu) c.3180C>A (p.Asp1060Glu) c.2129-485C>A (n.2129-485C>A) n.3253C>A n.3461C>A c.2670C>A (p.Asp890Glu) c.1695C>A (p.Asp565Glu) c.2409C>A (p.Asp803Glu) c.3387C>A (p.Asp1129Glu) n.3205C>A n.3413C>A | |
1 | g.197435115C>G | CA344046850 | CRB1 | c.3252C>G (p.Asp1084Glu) c.2133C>G (p.Asp711Glu) c.1395C>G (p.Asp465Glu) c.2916C>G (p.Asp972Glu) c.3180C>G (p.Asp1060Glu) c.2129-485C>G (n.2129-485C>G) n.3253C>G n.3461C>G c.2670C>G (p.Asp890Glu) c.1695C>G (p.Asp565Glu) c.2409C>G (p.Asp803Glu) c.3387C>G (p.Asp1129Glu) n.3205C>G n.3413C>G | gnomAD v4 |
1 | g.197435115C>T | CA422809355 | CRB1 | c.3252C>T (p.Asp1084=) c.2133C>T (p.Asp711=) c.1395C>T (p.Asp465=) c.2916C>T (p.Asp972=) c.3180C>T (p.Asp1060=) c.2129-485C>T (n.2129-485C>T) n.3253C>T n.3461C>T c.2670C>T (p.Asp890=) c.1695C>T (p.Asp565=) c.2409C>T (p.Asp803=) c.3387C>T (p.Asp1129=) n.3205C>T n.3413C>T | gnomAD v4 |
1 | g.197435116A>C | CA422809356 | CRB1 | c.3253A>C (p.Arg1085=) c.2134A>C (p.Arg712=) c.1396A>C (p.Arg466=) c.2917A>C (p.Arg973=) c.3181A>C (p.Arg1061=) c.2129-484A>C (n.2129-484A>C) n.3254A>C n.3462A>C c.2671A>C (p.Arg891=) c.1696A>C (p.Arg566=) c.2410A>C (p.Arg804=) c.3388A>C (p.Arg1130=) n.3206A>C n.3414A>C | |
1 | g.197435116A>G | CA344046853 | CRB1 | c.3253A>G (p.Arg1085Gly) c.2134A>G (p.Arg712Gly) c.1396A>G (p.Arg466Gly) c.2917A>G (p.Arg973Gly) c.3181A>G (p.Arg1061Gly) c.2129-484A>G (n.2129-484A>G) n.3254A>G n.3462A>G c.2671A>G (p.Arg891Gly) c.1696A>G (p.Arg566Gly) c.2410A>G (p.Arg804Gly) c.3388A>G (p.Arg1130Gly) n.3206A>G n.3414A>G | COSMIC COSMIC |
1 | g.197435116A>T | CA344046855 | CRB1 | c.3253A>T (p.Arg1085Ter) c.2134A>T (p.Arg712Ter) c.1396A>T (p.Arg466Ter) c.2917A>T (p.Arg973Ter) c.3181A>T (p.Arg1061Ter) c.2129-484A>T (n.2129-484A>T) n.3254A>T n.3462A>T c.2671A>T (p.Arg891Ter) c.1696A>T (p.Arg566Ter) c.2410A>T (p.Arg804Ter) c.3388A>T (p.Arg1130Ter) n.3206A>T n.3414A>T | |
1 | g.197435117G>A | CA344046857 | CRB1 | c.3254G>A (p.Arg1085Lys) c.2135G>A (p.Arg712Lys) c.1397G>A (p.Arg466Lys) c.2918G>A (p.Arg973Lys) c.3182G>A (p.Arg1061Lys) c.2129-483G>A (n.2129-483G>A) n.3255G>A n.3463G>A c.2672G>A (p.Arg891Lys) c.1697G>A (p.Arg566Lys) c.2411G>A (p.Arg804Lys) c.3389G>A (p.Arg1130Lys) n.3207G>A n.3415G>A | |
1 | g.197435117G>C | CA344046859 | CRB1 | c.3254G>C (p.Arg1085Thr) c.2135G>C (p.Arg712Thr) c.1397G>C (p.Arg466Thr) c.2918G>C (p.Arg973Thr) c.3182G>C (p.Arg1061Thr) c.2129-483G>C (n.2129-483G>C) n.3255G>C n.3463G>C c.2672G>C (p.Arg891Thr) c.1697G>C (p.Arg566Thr) c.2411G>C (p.Arg804Thr) c.3389G>C (p.Arg1130Thr) n.3207G>C n.3415G>C | |
1 | g.197435117G>T | CA344046860 | CRB1 | c.3254G>T (p.Arg1085Ile) c.2135G>T (p.Arg712Ile) c.1397G>T (p.Arg466Ile) c.2918G>T (p.Arg973Ile) c.3182G>T (p.Arg1061Ile) c.2129-483G>T (n.2129-483G>T) n.3255G>T n.3463G>T c.2672G>T (p.Arg891Ile) c.1697G>T (p.Arg566Ile) c.2411G>T (p.Arg804Ile) c.3389G>T (p.Arg1130Ile) n.3207G>T n.3415G>T | |
1 | g.197435118A= | CA1218068802 | CRB1 | c.3255A= (p.Arg1085=) c.2136A= (p.Arg712=) c.1398A= (p.Arg466=) c.2919A= (p.Arg973=) c.3183A= (p.Arg1061=) c.2129-482A= (n.2129-482A=) n.3256A= n.3464A= c.2673A= (p.Arg891=) c.1698A= (p.Arg566=) c.2412A= (p.Arg804=) c.3390A= (p.Arg1130=) n.3208A= n.3416A= | |
1 | g.197435118A>C | CA344046863 | CRB1 | c.3255A>C (p.Arg1085Ser) c.2136A>C (p.Arg712Ser) c.1398A>C (p.Arg466Ser) c.2919A>C (p.Arg973Ser) c.3183A>C (p.Arg1061Ser) c.2129-482A>C (n.2129-482A>C) n.3256A>C n.3464A>C c.2673A>C (p.Arg891Ser) c.1698A>C (p.Arg566Ser) c.2412A>C (p.Arg804Ser) c.3390A>C (p.Arg1130Ser) n.3208A>C n.3416A>C | gnomAD v4 |
1 | g.197435118A>G | CA1312304 | CRB1 | c.3255A>G (p.Arg1085=) c.2136A>G (p.Arg712=) c.1398A>G (p.Arg466=) c.2919A>G (p.Arg973=) c.3183A>G (p.Arg1061=) c.2129-482A>G (n.2129-482A>G) n.3256A>G n.3464A>G c.2673A>G (p.Arg891=) c.1698A>G (p.Arg566=) c.2412A>G (p.Arg804=) c.3390A>G (p.Arg1130=) n.3208A>G n.3416A>G | ClinVar dbSNP ExAC gnomAD v2 |
1 | g.197435118A>T | CA344046866 | CRB1 | c.3255A>T (p.Arg1085Ser) c.2136A>T (p.Arg712Ser) c.1398A>T (p.Arg466Ser) c.2919A>T (p.Arg973Ser) c.3183A>T (p.Arg1061Ser) c.2129-482A>T (n.2129-482A>T) n.3256A>T n.3464A>T c.2673A>T (p.Arg891Ser) c.1698A>T (p.Arg566Ser) c.2412A>T (p.Arg804Ser) c.3390A>T (p.Arg1130Ser) n.3208A>T n.3416A>T | |
1 | g.197435119G>A | CA344046869 | CRB1 | c.3256G>A (p.Ala1086Thr) c.2137G>A (p.Ala713Thr) c.1399G>A (p.Ala467Thr) c.2920G>A (p.Ala974Thr) c.3184G>A (p.Ala1062Thr) c.2129-481G>A (n.2129-481G>A) n.3257G>A n.3465G>A c.2674G>A (p.Ala892Thr) c.1699G>A (p.Ala567Thr) c.2413G>A (p.Ala805Thr) c.3391G>A (p.Ala1131Thr) n.3209G>A n.3417G>A | |
1 | g.197435119G>C | CA344046871 | CRB1 | c.3256G>C (p.Ala1086Pro) c.2137G>C (p.Ala713Pro) c.1399G>C (p.Ala467Pro) c.2920G>C (p.Ala974Pro) c.3184G>C (p.Ala1062Pro) c.2129-481G>C (n.2129-481G>C) n.3257G>C n.3465G>C c.2674G>C (p.Ala892Pro) c.1699G>C (p.Ala567Pro) c.2413G>C (p.Ala805Pro) c.3391G>C (p.Ala1131Pro) n.3209G>C n.3417G>C | |
1 | g.197435119G>T | CA344046873 | CRB1 | c.3256G>T (p.Ala1086Ser) c.2137G>T (p.Ala713Ser) c.1399G>T (p.Ala467Ser) c.2920G>T (p.Ala974Ser) c.3184G>T (p.Ala1062Ser) c.2129-481G>T (n.2129-481G>T) n.3257G>T n.3465G>T c.2674G>T (p.Ala892Ser) c.1699G>T (p.Ala567Ser) c.2413G>T (p.Ala805Ser) c.3391G>T (p.Ala1131Ser) n.3209G>T n.3417G>T | ClinVar dbSNP |
1 | g.197435120C>A | CA344046877 | CRB1 | c.3257C>A (p.Ala1086Asp) c.2138C>A (p.Ala713Asp) c.1400C>A (p.Ala467Asp) c.2921C>A (p.Ala974Asp) c.3185C>A (p.Ala1062Asp) c.2129-480C>A (n.2129-480C>A) n.3258C>A n.3466C>A c.2675C>A (p.Ala892Asp) c.1700C>A (p.Ala567Asp) c.2414C>A (p.Ala805Asp) c.3392C>A (p.Ala1131Asp) n.3210C>A n.3418C>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197435120C= | CA1218068803 | CRB1 | c.3257C= (p.Ala1086=) c.2138C= (p.Ala713=) c.1400C= (p.Ala467=) c.2921C= (p.Ala974=) c.3185C= (p.Ala1062=) c.2129-480C= (n.2129-480C=) n.3258C= n.3466C= c.2675C= (p.Ala892=) c.1700C= (p.Ala567=) c.2414C= (p.Ala805=) c.3392C= (p.Ala1131=) n.3210C= n.3418C= | |
1 | g.197435120C>G | CA344046879 | CRB1 | c.3257C>G (p.Ala1086Gly) c.2138C>G (p.Ala713Gly) c.1400C>G (p.Ala467Gly) c.2921C>G (p.Ala974Gly) c.3185C>G (p.Ala1062Gly) c.2129-480C>G (n.2129-480C>G) n.3258C>G n.3466C>G c.2675C>G (p.Ala892Gly) c.1700C>G (p.Ala567Gly) c.2414C>G (p.Ala805Gly) c.3392C>G (p.Ala1131Gly) n.3210C>G n.3418C>G | gnomAD v4 |
1 | g.197435120C>T | CA344046881 | CRB1 | c.3257C>T (p.Ala1086Val) c.2138C>T (p.Ala713Val) c.1400C>T (p.Ala467Val) c.2921C>T (p.Ala974Val) c.3185C>T (p.Ala1062Val) c.2129-480C>T (n.2129-480C>T) n.3258C>T n.3466C>T c.2675C>T (p.Ala892Val) c.1700C>T (p.Ala567Val) c.2414C>T (p.Ala805Val) c.3392C>T (p.Ala1131Val) n.3210C>T n.3418C>T | ClinVar gnomAD v4 |
1 | g.197435121T>A | CA1312305 | CRB1 | c.3258T>A (p.Ala1086=) c.2139T>A (p.Ala713=) c.1401T>A (p.Ala467=) c.2922T>A (p.Ala974=) c.3186T>A (p.Ala1062=) c.2129-479T>A (n.2129-479T>A) n.3259T>A n.3467T>A c.2676T>A (p.Ala892=) c.1701T>A (p.Ala567=) c.2415T>A (p.Ala805=) c.3393T>A (p.Ala1131=) n.3211T>A n.3419T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.197435121T>C | CA422809367 | CRB1 | c.3258T>C (p.Ala1086=) c.2139T>C (p.Ala713=) c.1401T>C (p.Ala467=) c.2922T>C (p.Ala974=) c.3186T>C (p.Ala1062=) c.2129-479T>C (n.2129-479T>C) n.3259T>C n.3467T>C c.2676T>C (p.Ala892=) c.1701T>C (p.Ala567=) c.2415T>C (p.Ala805=) c.3393T>C (p.Ala1131=) n.3211T>C n.3419T>C | ClinVar gnomAD v4 |
1 | g.197435121T>G | CA422809368 | CRB1 | c.3258T>G (p.Ala1086=) c.2139T>G (p.Ala713=) c.1401T>G (p.Ala467=) c.2922T>G (p.Ala974=) c.3186T>G (p.Ala1062=) c.2129-479T>G (n.2129-479T>G) n.3259T>G n.3467T>G c.2676T>G (p.Ala892=) c.1701T>G (p.Ala567=) c.2415T>G (p.Ala805=) c.3393T>G (p.Ala1131=) n.3211T>G n.3419T>G | |
1 | g.197435121T= | CA1144863167 | CRB1 | c.3258T= (p.Ala1086=) c.2139T= (p.Ala713=) c.1401T= (p.Ala467=) c.2922T= (p.Ala974=) c.3186T= (p.Ala1062=) c.2129-479T= (n.2129-479T=) n.3259T= n.3467T= c.2676T= (p.Ala892=) c.1701T= (p.Ala567=) c.2415T= (p.Ala805=) c.3393T= (p.Ala1131=) n.3211T= n.3419T= | |
1 | g.197435122A= | CA1218068804 | CRB1 | c.3259A= (p.Ile1087=) c.2140A= (p.Ile714=) c.1402A= (p.Ile468=) c.2923A= (p.Ile975=) c.3187A= (p.Ile1063=) c.2129-478A= (n.2129-478A=) n.3260A= n.3468A= c.2677A= (p.Ile893=) c.1702A= (p.Ile568=) c.2416A= (p.Ile806=) c.3394A= (p.Ile1132=) n.3212A= n.3420A= | |
1 | g.197435122A>C | CA344046890 | CRB1 | c.3259A>C (p.Ile1087Leu) c.2140A>C (p.Ile714Leu) c.1402A>C (p.Ile468Leu) c.2923A>C (p.Ile975Leu) c.3187A>C (p.Ile1063Leu) c.2129-478A>C (n.2129-478A>C) n.3260A>C n.3468A>C c.2677A>C (p.Ile893Leu) c.1702A>C (p.Ile568Leu) c.2416A>C (p.Ile806Leu) c.3394A>C (p.Ile1132Leu) n.3212A>C n.3420A>C | |
1 | g.197435122A>G | CA344046886 | CRB1 | c.3259A>G (p.Ile1087Val) c.2140A>G (p.Ile714Val) c.1402A>G (p.Ile468Val) c.2923A>G (p.Ile975Val) c.3187A>G (p.Ile1063Val) c.2129-478A>G (n.2129-478A>G) n.3260A>G n.3468A>G c.2677A>G (p.Ile893Val) c.1702A>G (p.Ile568Val) c.2416A>G (p.Ile806Val) c.3394A>G (p.Ile1132Val) n.3212A>G n.3420A>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197435122A>T | CA344046888 | CRB1 | c.3259A>T (p.Ile1087Phe) c.2140A>T (p.Ile714Phe) c.1402A>T (p.Ile468Phe) c.2923A>T (p.Ile975Phe) c.3187A>T (p.Ile1063Phe) c.2129-478A>T (n.2129-478A>T) n.3260A>T n.3468A>T c.2677A>T (p.Ile893Phe) c.1702A>T (p.Ile568Phe) c.2416A>T (p.Ile806Phe) c.3394A>T (p.Ile1132Phe) n.3212A>T n.3420A>T | |
1 | g.197435123T>A | CA344046893 | CRB1 | c.3260T>A (p.Ile1087Asn) c.2141T>A (p.Ile714Asn) c.1403T>A (p.Ile468Asn) c.2924T>A (p.Ile975Asn) c.3188T>A (p.Ile1063Asn) c.2129-477T>A (n.2129-477T>A) n.3261T>A n.3469T>A c.2678T>A (p.Ile893Asn) c.1703T>A (p.Ile568Asn) c.2417T>A (p.Ile806Asn) c.3395T>A (p.Ile1132Asn) n.3213T>A n.3421T>A | |
1 | g.197435123T>C | CA344046894 | CRB1 | c.3260T>C (p.Ile1087Thr) c.2141T>C (p.Ile714Thr) c.1403T>C (p.Ile468Thr) c.2924T>C (p.Ile975Thr) c.3188T>C (p.Ile1063Thr) c.2129-477T>C (n.2129-477T>C) n.3261T>C n.3469T>C c.2678T>C (p.Ile893Thr) c.1703T>C (p.Ile568Thr) c.2417T>C (p.Ile806Thr) c.3395T>C (p.Ile1132Thr) n.3213T>C n.3421T>C | |
1 | g.197435123T>G | CA344046897 | CRB1 | c.3260T>G (p.Ile1087Ser) c.2141T>G (p.Ile714Ser) c.1403T>G (p.Ile468Ser) c.2924T>G (p.Ile975Ser) c.3188T>G (p.Ile1063Ser) c.2129-477T>G (n.2129-477T>G) n.3261T>G n.3469T>G c.2678T>G (p.Ile893Ser) c.1703T>G (p.Ile568Ser) c.2417T>G (p.Ile806Ser) c.3395T>G (p.Ile1132Ser) n.3213T>G n.3421T>G | |
1 | g.197435124T>A | CA422809376 | CRB1 | c.3261T>A (p.Ile1087=) c.2142T>A (p.Ile714=) c.1404T>A (p.Ile468=) c.2925T>A (p.Ile975=) c.3189T>A (p.Ile1063=) c.2129-476T>A (n.2129-476T>A) n.3262T>A n.3470T>A c.2679T>A (p.Ile893=) c.1704T>A (p.Ile568=) c.2418T>A (p.Ile806=) c.3396T>A (p.Ile1132=) n.3214T>A n.3422T>A | |
1 | g.197435124T>C | CA422809379 | CRB1 | c.3261T>C (p.Ile1087=) c.2142T>C (p.Ile714=) c.1404T>C (p.Ile468=) c.2925T>C (p.Ile975=) c.3189T>C (p.Ile1063=) c.2129-476T>C (n.2129-476T>C) n.3262T>C n.3470T>C c.2679T>C (p.Ile893=) c.1704T>C (p.Ile568=) c.2418T>C (p.Ile806=) c.3396T>C (p.Ile1132=) n.3214T>C n.3422T>C | |
1 | g.197435124T>G | CA344046900 | CRB1 | c.3261T>G (p.Ile1087Met) c.2142T>G (p.Ile714Met) c.1404T>G (p.Ile468Met) c.2925T>G (p.Ile975Met) c.3189T>G (p.Ile1063Met) c.2129-476T>G (n.2129-476T>G) n.3262T>G n.3470T>G c.2679T>G (p.Ile893Met) c.1704T>G (p.Ile568Met) c.2418T>G (p.Ile806Met) c.3396T>G (p.Ile1132Met) n.3214T>G n.3422T>G | gnomAD v4 |
1 | g.197435124_197435125insAC | CA2747248275 | CRB1 | c.3261_3262insAC (p.Asp1088ThrfsTer4) c.2142_2143insAC (p.Asp715ThrfsTer4) c.1404_1405insAC (p.Asp469ThrfsTer4) c.2925_2926insAC (p.Asp976ThrfsTer4) c.3189_3190insAC (p.Asp1064ThrfsTer4) c.2129-476_2129-475insAC (n.2129-476_2129-475insAC) n.3262_3263insAC n.3470_3471insAC c.2679_2680insAC (p.Asp894ThrfsTer4) c.1704_1705insAC (p.Asp569ThrfsTer4) c.2418_2419insAC (p.Asp807ThrfsTer4) c.3396_3397insAC (p.Asp1133ThrfsTer4) n.3214_3215insAC n.3422_3423insAC | |
1 | g.197435125G>A | CA344046902 | CRB1 | c.3262G>A (p.Asp1088Asn) c.2143G>A (p.Asp715Asn) c.1405G>A (p.Asp469Asn) c.2926G>A (p.Asp976Asn) c.3190G>A (p.Asp1064Asn) c.2129-475G>A (n.2129-475G>A) n.3263G>A n.3471G>A c.2680G>A (p.Asp894Asn) c.1705G>A (p.Asp569Asn) c.2419G>A (p.Asp807Asn) c.3397G>A (p.Asp1133Asn) n.3215G>A n.3423G>A | gnomAD v4 |
1 | g.197435125G>C | CA344046905 | CRB1 | c.3262G>C (p.Asp1088His) c.2143G>C (p.Asp715His) c.1405G>C (p.Asp469His) c.2926G>C (p.Asp976His) c.3190G>C (p.Asp1064His) c.2129-475G>C (n.2129-475G>C) n.3263G>C n.3471G>C c.2680G>C (p.Asp894His) c.1705G>C (p.Asp569His) c.2419G>C (p.Asp807His) c.3397G>C (p.Asp1133His) n.3215G>C n.3423G>C | |
1 | g.197435125G>T | CA344046907 | CRB1 | c.3262G>T (p.Asp1088Tyr) c.2143G>T (p.Asp715Tyr) c.1405G>T (p.Asp469Tyr) c.2926G>T (p.Asp976Tyr) c.3190G>T (p.Asp1064Tyr) c.2129-475G>T (n.2129-475G>T) n.3263G>T n.3471G>T c.2680G>T (p.Asp894Tyr) c.1705G>T (p.Asp569Tyr) c.2419G>T (p.Asp807Tyr) c.3397G>T (p.Asp1133Tyr) n.3215G>T n.3423G>T | |
1 | g.197435126A>C | CA344046910 | CRB1 | c.3263A>C (p.Asp1088Ala) c.2144A>C (p.Asp715Ala) c.1406A>C (p.Asp469Ala) c.2927A>C (p.Asp976Ala) c.3191A>C (p.Asp1064Ala) c.2129-474A>C (n.2129-474A>C) n.3264A>C n.3472A>C c.2681A>C (p.Asp894Ala) c.1706A>C (p.Asp569Ala) c.2420A>C (p.Asp807Ala) c.3398A>C (p.Asp1133Ala) n.3216A>C n.3424A>C | COSMIC COSMIC |
1 | g.197435126A>G | CA344046912 | CRB1 | c.3263A>G (p.Asp1088Gly) c.2144A>G (p.Asp715Gly) c.1406A>G (p.Asp469Gly) c.2927A>G (p.Asp976Gly) c.3191A>G (p.Asp1064Gly) c.2129-474A>G (n.2129-474A>G) n.3264A>G n.3472A>G c.2681A>G (p.Asp894Gly) c.1706A>G (p.Asp569Gly) c.2420A>G (p.Asp807Gly) c.3398A>G (p.Asp1133Gly) n.3216A>G n.3424A>G | COSMIC |
1 | g.197435126A>T | CA344046915 | CRB1 | c.3263A>T (p.Asp1088Val) c.2144A>T (p.Asp715Val) c.1406A>T (p.Asp469Val) c.2927A>T (p.Asp976Val) c.3191A>T (p.Asp1064Val) c.2129-474A>T (n.2129-474A>T) n.3264A>T n.3472A>T c.2681A>T (p.Asp894Val) c.1706A>T (p.Asp569Val) c.2420A>T (p.Asp807Val) c.3398A>T (p.Asp1133Val) n.3216A>T n.3424A>T | |
1 | g.197435127C>A | CA344046918 | CRB1 | c.3264C>A (p.Asp1088Glu) c.2145C>A (p.Asp715Glu) c.1407C>A (p.Asp469Glu) c.2928C>A (p.Asp976Glu) c.3192C>A (p.Asp1064Glu) c.2129-473C>A (n.2129-473C>A) n.3265C>A n.3473C>A c.2682C>A (p.Asp894Glu) c.1707C>A (p.Asp569Glu) c.2421C>A (p.Asp807Glu) c.3399C>A (p.Asp1133Glu) n.3217C>A n.3425C>A | |
1 | g.197435127C>G | CA344046920 | CRB1 | c.3264C>G (p.Asp1088Glu) c.2145C>G (p.Asp715Glu) c.1407C>G (p.Asp469Glu) c.2928C>G (p.Asp976Glu) c.3192C>G (p.Asp1064Glu) c.2129-473C>G (n.2129-473C>G) n.3265C>G n.3473C>G c.2682C>G (p.Asp894Glu) c.1707C>G (p.Asp569Glu) c.2421C>G (p.Asp807Glu) c.3399C>G (p.Asp1133Glu) n.3217C>G n.3425C>G | gnomAD v4 |
1 | g.197435127C>T | CA422809389 | CRB1 | c.3264C>T (p.Asp1088=) c.2145C>T (p.Asp715=) c.1407C>T (p.Asp469=) c.2928C>T (p.Asp976=) c.3192C>T (p.Asp1064=) c.2129-473C>T (n.2129-473C>T) n.3265C>T n.3473C>T c.2682C>T (p.Asp894=) c.1707C>T (p.Asp569=) c.2421C>T (p.Asp807=) c.3399C>T (p.Asp1133=) n.3217C>T n.3425C>T | |
1 | g.197435128A>C | CA344046927 | CRB1 | c.3265A>C (p.Asn1089His) c.2146A>C (p.Asn716His) c.1408A>C (p.Asn470His) c.2929A>C (p.Asn977His) c.3193A>C (p.Asn1065His) c.2129-472A>C (n.2129-472A>C) n.3266A>C n.3474A>C c.2683A>C (p.Asn895His) c.1708A>C (p.Asn570His) c.2422A>C (p.Asn808His) c.3400A>C (p.Asn1134His) n.3218A>C n.3426A>C | |
1 | g.197435128A>G | CA344046923 | CRB1 | c.3265A>G (p.Asn1089Asp) c.2146A>G (p.Asn716Asp) c.1408A>G (p.Asn470Asp) c.2929A>G (p.Asn977Asp) c.3193A>G (p.Asn1065Asp) c.2129-472A>G (n.2129-472A>G) n.3266A>G n.3474A>G c.2683A>G (p.Asn895Asp) c.1708A>G (p.Asn570Asp) c.2422A>G (p.Asn808Asp) c.3400A>G (p.Asn1134Asp) n.3218A>G n.3426A>G | |
1 | g.197435128A>T | CA344046925 | CRB1 | c.3265A>T (p.Asn1089Tyr) c.2146A>T (p.Asn716Tyr) c.1408A>T (p.Asn470Tyr) c.2929A>T (p.Asn977Tyr) c.3193A>T (p.Asn1065Tyr) c.2129-472A>T (n.2129-472A>T) n.3266A>T n.3474A>T c.2683A>T (p.Asn895Tyr) c.1708A>T (p.Asn570Tyr) c.2422A>T (p.Asn808Tyr) c.3400A>T (p.Asn1134Tyr) n.3218A>T n.3426A>T | |
1 | g.197435129A= | CA1218068805 | CRB1 | c.3266A= (p.Asn1089=) c.2147A= (p.Asn716=) c.1409A= (p.Asn470=) c.2930A= (p.Asn977=) c.3194A= (p.Asn1065=) c.2129-471A= (n.2129-471A=) n.3267A= n.3475A= c.2684A= (p.Asn895=) c.1709A= (p.Asn570=) c.2423A= (p.Asn808=) c.3401A= (p.Asn1134=) n.3219A= n.3427A= | |
1 | g.197435129A>C | CA344046931 | CRB1 | c.3266A>C (p.Asn1089Thr) c.2147A>C (p.Asn716Thr) c.1409A>C (p.Asn470Thr) c.2930A>C (p.Asn977Thr) c.3194A>C (p.Asn1065Thr) c.2129-471A>C (n.2129-471A>C) n.3267A>C n.3475A>C c.2684A>C (p.Asn895Thr) c.1709A>C (p.Asn570Thr) c.2423A>C (p.Asn808Thr) c.3401A>C (p.Asn1134Thr) n.3219A>C n.3427A>C | |
1 | g.197435129A>G | CA1312306 | CRB1 | c.3266A>G (p.Asn1089Ser) c.2147A>G (p.Asn716Ser) c.1409A>G (p.Asn470Ser) c.2930A>G (p.Asn977Ser) c.3194A>G (p.Asn1065Ser) c.2129-471A>G (n.2129-471A>G) n.3267A>G n.3475A>G c.2684A>G (p.Asn895Ser) c.1709A>G (p.Asn570Ser) c.2423A>G (p.Asn808Ser) c.3401A>G (p.Asn1134Ser) n.3219A>G n.3427A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197435129A>T | CA344046934 | CRB1 | c.3266A>T (p.Asn1089Ile) c.2147A>T (p.Asn716Ile) c.1409A>T (p.Asn470Ile) c.2930A>T (p.Asn977Ile) c.3194A>T (p.Asn1065Ile) c.2129-471A>T (n.2129-471A>T) n.3267A>T n.3475A>T c.2684A>T (p.Asn895Ile) c.1709A>T (p.Asn570Ile) c.2423A>T (p.Asn808Ile) c.3401A>T (p.Asn1134Ile) n.3219A>T n.3427A>T | gnomAD v4 |
1 | g.197435130T>A | CA344046936 | CRB1 | c.3267T>A (p.Asn1089Lys) c.2148T>A (p.Asn716Lys) c.1410T>A (p.Asn470Lys) c.2931T>A (p.Asn977Lys) c.3195T>A (p.Asn1065Lys) c.2129-470T>A (n.2129-470T>A) n.3268T>A n.3476T>A c.2685T>A (p.Asn895Lys) c.1710T>A (p.Asn570Lys) c.2424T>A (p.Asn808Lys) c.3402T>A (p.Asn1134Lys) n.3220T>A n.3428T>A | |
1 | g.197435130T>C | CA422809392 | CRB1 | c.3267T>C (p.Asn1089=) c.2148T>C (p.Asn716=) c.1410T>C (p.Asn470=) c.2931T>C (p.Asn977=) c.3195T>C (p.Asn1065=) c.2129-470T>C (n.2129-470T>C) n.3268T>C n.3476T>C c.2685T>C (p.Asn895=) c.1710T>C (p.Asn570=) c.2424T>C (p.Asn808=) c.3402T>C (p.Asn1134=) n.3220T>C n.3428T>C | ClinVar gnomAD v4 |
1 | g.197435130T>G | CA344046938 | CRB1 | c.3267T>G (p.Asn1089Lys) c.2148T>G (p.Asn716Lys) c.1410T>G (p.Asn470Lys) c.2931T>G (p.Asn977Lys) c.3195T>G (p.Asn1065Lys) c.2129-470T>G (n.2129-470T>G) n.3268T>G n.3476T>G c.2685T>G (p.Asn895Lys) c.1710T>G (p.Asn570Lys) c.2424T>G (p.Asn808Lys) c.3402T>G (p.Asn1134Lys) n.3220T>G n.3428T>G | |
1 | g.197435131A= | CA1218068806 | CRB1 | c.3268A= (p.Ile1090=) c.2149A= (p.Ile717=) c.1411A= (p.Ile471=) c.2932A= (p.Ile978=) c.3196A= (p.Ile1066=) c.2129-469A= (n.2129-469A=) n.3269A= n.3477A= c.2686A= (p.Ile896=) c.1711A= (p.Ile571=) c.2425A= (p.Ile809=) c.3403A= (p.Ile1135=) n.3221A= n.3429A= | |
1 | g.197435131A>C | CA344046942 | CRB1 | c.3268A>C (p.Ile1090Leu) c.2149A>C (p.Ile717Leu) c.1411A>C (p.Ile471Leu) c.2932A>C (p.Ile978Leu) c.3196A>C (p.Ile1066Leu) c.2129-469A>C (n.2129-469A>C) n.3269A>C n.3477A>C c.2686A>C (p.Ile896Leu) c.1711A>C (p.Ile571Leu) c.2425A>C (p.Ile809Leu) c.3403A>C (p.Ile1135Leu) n.3221A>C n.3429A>C | |
1 | g.197435131A>G | CA344046944 | CRB1 | c.3268A>G (p.Ile1090Val) c.2149A>G (p.Ile717Val) c.1411A>G (p.Ile471Val) c.2932A>G (p.Ile978Val) c.3196A>G (p.Ile1066Val) c.2129-469A>G (n.2129-469A>G) n.3269A>G n.3477A>G c.2686A>G (p.Ile896Val) c.1711A>G (p.Ile571Val) c.2425A>G (p.Ile809Val) c.3403A>G (p.Ile1135Val) n.3221A>G n.3429A>G | dbSNP gnomAD v4 |
1 | g.197435131A>T | CA344046946 | CRB1 | c.3268A>T (p.Ile1090Leu) c.2149A>T (p.Ile717Leu) c.1411A>T (p.Ile471Leu) c.2932A>T (p.Ile978Leu) c.3196A>T (p.Ile1066Leu) c.2129-469A>T (n.2129-469A>T) n.3269A>T n.3477A>T c.2686A>T (p.Ile896Leu) c.1711A>T (p.Ile571Leu) c.2425A>T (p.Ile809Leu) c.3403A>T (p.Ile1135Leu) n.3221A>T n.3429A>T | |
1 | g.197435132T>A | CA344046949 | CRB1 | c.3269T>A (p.Ile1090Lys) c.2150T>A (p.Ile717Lys) c.1412T>A (p.Ile471Lys) c.2933T>A (p.Ile978Lys) c.3197T>A (p.Ile1066Lys) c.2129-468T>A (n.2129-468T>A) n.3270T>A n.3478T>A c.2687T>A (p.Ile896Lys) c.1712T>A (p.Ile571Lys) c.2426T>A (p.Ile809Lys) c.3404T>A (p.Ile1135Lys) n.3222T>A n.3430T>A | |
1 | g.197435132T>C | CA1312307 | CRB1 | c.3269T>C (p.Ile1090Thr) c.2150T>C (p.Ile717Thr) c.1412T>C (p.Ile471Thr) c.2933T>C (p.Ile978Thr) c.3197T>C (p.Ile1066Thr) c.2129-468T>C (n.2129-468T>C) n.3270T>C n.3478T>C c.2687T>C (p.Ile896Thr) c.1712T>C (p.Ile571Thr) c.2426T>C (p.Ile809Thr) c.3404T>C (p.Ile1135Thr) n.3222T>C n.3430T>C | dbSNP ExAC gnomAD v2 |
1 | g.197435132T>G | CA344046950 | CRB1 | c.3269T>G (p.Ile1090Arg) c.2150T>G (p.Ile717Arg) c.1412T>G (p.Ile471Arg) c.2933T>G (p.Ile978Arg) c.3197T>G (p.Ile1066Arg) c.2129-468T>G (n.2129-468T>G) n.3270T>G n.3478T>G c.2687T>G (p.Ile896Arg) c.1712T>G (p.Ile571Arg) c.2426T>G (p.Ile809Arg) c.3404T>G (p.Ile1135Arg) n.3222T>G n.3430T>G | |
1 | g.197435132T= | CA1218068807 | CRB1 | c.3269T= (p.Ile1090=) c.2150T= (p.Ile717=) c.1412T= (p.Ile471=) c.2933T= (p.Ile978=) c.3197T= (p.Ile1066=) c.2129-468T= (n.2129-468T=) n.3270T= n.3478T= c.2687T= (p.Ile896=) c.1712T= (p.Ile571=) c.2426T= (p.Ile809=) c.3404T= (p.Ile1135=) n.3222T= n.3430T= | |
1 | g.197435133A>C | CA422809406 | CRB1 | c.3270A>C (p.Ile1090=) c.2151A>C (p.Ile717=) c.1413A>C (p.Ile471=) c.2934A>C (p.Ile978=) c.3198A>C (p.Ile1066=) c.2129-467A>C (n.2129-467A>C) n.3271A>C n.3479A>C c.2688A>C (p.Ile896=) c.1713A>C (p.Ile571=) c.2427A>C (p.Ile809=) c.3405A>C (p.Ile1135=) n.3223A>C n.3431A>C | |
1 | g.197435133A>G | CA344046955 | CRB1 | c.3270A>G (p.Ile1090Met) c.2151A>G (p.Ile717Met) c.1413A>G (p.Ile471Met) c.2934A>G (p.Ile978Met) c.3198A>G (p.Ile1066Met) c.2129-467A>G (n.2129-467A>G) n.3271A>G n.3479A>G c.2688A>G (p.Ile896Met) c.1713A>G (p.Ile571Met) c.2427A>G (p.Ile809Met) c.3405A>G (p.Ile1135Met) n.3223A>G n.3431A>G | gnomAD v4 |
1 | g.197435133A>T | CA422809401 | CRB1 | c.3270A>T (p.Ile1090=) c.2151A>T (p.Ile717=) c.1413A>T (p.Ile471=) c.2934A>T (p.Ile978=) c.3198A>T (p.Ile1066=) c.2129-467A>T (n.2129-467A>T) n.3271A>T n.3479A>T c.2688A>T (p.Ile896=) c.1713A>T (p.Ile571=) c.2427A>T (p.Ile809=) c.3405A>T (p.Ile1135=) n.3223A>T n.3431A>T | ClinVar |
1 | g.197435134A>C | CA344046957 | CRB1 | c.3271A>C (p.Lys1091Gln) c.2152A>C (p.Lys718Gln) c.1414A>C (p.Lys472Gln) c.2935A>C (p.Lys979Gln) c.3199A>C (p.Lys1067Gln) c.2129-466A>C (n.2129-466A>C) n.3272A>C n.3480A>C c.2689A>C (p.Lys897Gln) c.1714A>C (p.Lys572Gln) c.2428A>C (p.Lys810Gln) c.3406A>C (p.Lys1136Gln) n.3224A>C n.3432A>C | |
1 | g.197435134A>G | CA344046960 | CRB1 | c.3271A>G (p.Lys1091Glu) c.2152A>G (p.Lys718Glu) c.1414A>G (p.Lys472Glu) c.2935A>G (p.Lys979Glu) c.3199A>G (p.Lys1067Glu) c.2129-466A>G (n.2129-466A>G) n.3272A>G n.3480A>G c.2689A>G (p.Lys897Glu) c.1714A>G (p.Lys572Glu) c.2428A>G (p.Lys810Glu) c.3406A>G (p.Lys1136Glu) n.3224A>G n.3432A>G | |
1 | g.197435134A>T | CA344046962 | CRB1 | c.3271A>T (p.Lys1091Ter) c.2152A>T (p.Lys718Ter) c.1414A>T (p.Lys472Ter) c.2935A>T (p.Lys979Ter) c.3199A>T (p.Lys1067Ter) c.2129-466A>T (n.2129-466A>T) n.3272A>T n.3480A>T c.2689A>T (p.Lys897Ter) c.1714A>T (p.Lys572Ter) c.2428A>T (p.Lys810Ter) c.3406A>T (p.Lys1136Ter) n.3224A>T n.3432A>T | gnomAD v4 |
1 | g.197435135A>C | CA344046967 | CRB1 | c.3272A>C (p.Lys1091Thr) c.2153A>C (p.Lys718Thr) c.1415A>C (p.Lys472Thr) c.2936A>C (p.Lys979Thr) c.3200A>C (p.Lys1067Thr) c.2129-465A>C (n.2129-465A>C) n.3273A>C n.3481A>C c.2690A>C (p.Lys897Thr) c.1715A>C (p.Lys572Thr) c.2429A>C (p.Lys810Thr) c.3407A>C (p.Lys1136Thr) n.3225A>C n.3433A>C | |
1 | g.197435135A>G | CA344046964 | CRB1 | c.3272A>G (p.Lys1091Arg) c.2153A>G (p.Lys718Arg) c.1415A>G (p.Lys472Arg) c.2936A>G (p.Lys979Arg) c.3200A>G (p.Lys1067Arg) c.2129-465A>G (n.2129-465A>G) n.3273A>G n.3481A>G c.2690A>G (p.Lys897Arg) c.1715A>G (p.Lys572Arg) c.2429A>G (p.Lys810Arg) c.3407A>G (p.Lys1136Arg) n.3225A>G n.3433A>G | |
1 | g.197435135A>T | CA344046966 | CRB1 | c.3272A>T (p.Lys1091Met) c.2153A>T (p.Lys718Met) c.1415A>T (p.Lys472Met) c.2936A>T (p.Lys979Met) c.3200A>T (p.Lys1067Met) c.2129-465A>T (n.2129-465A>T) n.3273A>T n.3481A>T c.2690A>T (p.Lys897Met) c.1715A>T (p.Lys572Met) c.2429A>T (p.Lys810Met) c.3407A>T (p.Lys1136Met) n.3225A>T n.3433A>T | |
1 | g.197435136G>A | CA422809418 | CRB1 | c.3273G>A (p.Lys1091=) c.2154G>A (p.Lys718=) c.1416G>A (p.Lys472=) c.2937G>A (p.Lys979=) c.3201G>A (p.Lys1067=) c.2129-464G>A (n.2129-464G>A) n.3274G>A n.3482G>A c.2691G>A (p.Lys897=) c.1716G>A (p.Lys572=) c.2430G>A (p.Lys810=) c.3408G>A (p.Lys1136=) n.3226G>A n.3434G>A | ClinVar dbSNP gnomAD v4 |
1 | g.197435136G>C | CA344046968 | CRB1 | c.3273G>C (p.Lys1091Asn) c.2154G>C (p.Lys718Asn) c.1416G>C (p.Lys472Asn) c.2937G>C (p.Lys979Asn) c.3201G>C (p.Lys1067Asn) c.2129-464G>C (n.2129-464G>C) n.3274G>C n.3482G>C c.2691G>C (p.Lys897Asn) c.1716G>C (p.Lys572Asn) c.2430G>C (p.Lys810Asn) c.3408G>C (p.Lys1136Asn) n.3226G>C n.3434G>C | |
1 | g.197435136G>T | CA344046969 | CRB1 | c.3273G>T (p.Lys1091Asn) c.2154G>T (p.Lys718Asn) c.1416G>T (p.Lys472Asn) c.2937G>T (p.Lys979Asn) c.3201G>T (p.Lys1067Asn) c.2129-464G>T (n.2129-464G>T) n.3274G>T n.3482G>T c.2691G>T (p.Lys897Asn) c.1716G>T (p.Lys572Asn) c.2430G>T (p.Lys810Asn) c.3408G>T (p.Lys1136Asn) n.3226G>T n.3434G>T | gnomAD v4 |
1 | g.197435137G>A | CA344046970 | CRB1 | c.3274G>A (p.Gly1092Ser) c.2155G>A (p.Gly719Ser) c.1417G>A (p.Gly473Ser) c.2938G>A (p.Gly980Ser) c.3202G>A (p.Gly1068Ser) c.2129-463G>A (n.2129-463G>A) n.3275G>A n.3483G>A c.2692G>A (p.Gly898Ser) c.1717G>A (p.Gly573Ser) c.2431G>A (p.Gly811Ser) c.3409G>A (p.Gly1137Ser) n.3227G>A n.3435G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.197435137G>C | CA344046971 | CRB1 | c.3274G>C (p.Gly1092Arg) c.2155G>C (p.Gly719Arg) c.1417G>C (p.Gly473Arg) c.2938G>C (p.Gly980Arg) c.3202G>C (p.Gly1068Arg) c.2129-463G>C (n.2129-463G>C) n.3275G>C n.3483G>C c.2692G>C (p.Gly898Arg) c.1717G>C (p.Gly573Arg) c.2431G>C (p.Gly811Arg) c.3409G>C (p.Gly1137Arg) n.3227G>C n.3435G>C | |
1 | g.197435137G= | CA1218068808 | CRB1 | c.3274G= (p.Gly1092=) c.2155G= (p.Gly719=) c.1417G= (p.Gly473=) c.2938G= (p.Gly980=) c.3202G= (p.Gly1068=) c.2129-463G= (n.2129-463G=) n.3275G= n.3483G= c.2692G= (p.Gly898=) c.1717G= (p.Gly573=) c.2431G= (p.Gly811=) c.3409G= (p.Gly1137=) n.3227G= n.3435G= | |
1 | g.197435137G>T | CA344046972 | CRB1 | c.3274G>T (p.Gly1092Cys) c.2155G>T (p.Gly719Cys) c.1417G>T (p.Gly473Cys) c.2938G>T (p.Gly980Cys) c.3202G>T (p.Gly1068Cys) c.2129-463G>T (n.2129-463G>T) n.3275G>T n.3483G>T c.2692G>T (p.Gly898Cys) c.1717G>T (p.Gly573Cys) c.2431G>T (p.Gly811Cys) c.3409G>T (p.Gly1137Cys) n.3227G>T n.3435G>T | |
1 | g.197435138G>A | CA35907313 | CRB1 | c.3275G>A (p.Gly1092Asp) c.2156G>A (p.Gly719Asp) c.1418G>A (p.Gly473Asp) c.2939G>A (p.Gly980Asp) c.3203G>A (p.Gly1068Asp) c.2129-462G>A (n.2129-462G>A) n.3276G>A n.3484G>A c.2693G>A (p.Gly898Asp) c.1718G>A (p.Gly573Asp) c.2432G>A (p.Gly811Asp) c.3410G>A (p.Gly1137Asp) n.3228G>A n.3436G>A | ClinVar dbSNP gnomAD v4 |
1 | g.197435138G>C | CA344046974 | CRB1 | c.3275G>C (p.Gly1092Ala) c.2156G>C (p.Gly719Ala) c.1418G>C (p.Gly473Ala) c.2939G>C (p.Gly980Ala) c.3203G>C (p.Gly1068Ala) c.2129-462G>C (n.2129-462G>C) n.3276G>C n.3484G>C c.2693G>C (p.Gly898Ala) c.1718G>C (p.Gly573Ala) c.2432G>C (p.Gly811Ala) c.3410G>C (p.Gly1137Ala) n.3228G>C n.3436G>C | |
1 | g.197435138G= | CA1218068809 | CRB1 | c.3275G= (p.Gly1092=) c.2156G= (p.Gly719=) c.1418G= (p.Gly473=) c.2939G= (p.Gly980=) c.3203G= (p.Gly1068=) c.2129-462G= (n.2129-462G=) n.3276G= n.3484G= c.2693G= (p.Gly898=) c.1718G= (p.Gly573=) c.2432G= (p.Gly811=) c.3410G= (p.Gly1137=) n.3228G= n.3436G= | |
1 | g.197435138G>T | CA344046973 | CRB1 | c.3275G>T (p.Gly1092Val) c.2156G>T (p.Gly719Val) c.1418G>T (p.Gly473Val) c.2939G>T (p.Gly980Val) c.3203G>T (p.Gly1068Val) c.2129-462G>T (n.2129-462G>T) n.3276G>T n.3484G>T c.2693G>T (p.Gly898Val) c.1718G>T (p.Gly573Val) c.2432G>T (p.Gly811Val) c.3410G>T (p.Gly1137Val) n.3228G>T n.3436G>T | |
1 | g.197435139C>A | CA1312308 | CRB1 | c.3276C>A (p.Gly1092=) c.2157C>A (p.Gly719=) c.1419C>A (p.Gly473=) c.2940C>A (p.Gly980=) c.3204C>A (p.Gly1068=) c.2129-461C>A (n.2129-461C>A) n.3277C>A n.3485C>A c.2694C>A (p.Gly898=) c.1719C>A (p.Gly573=) c.2433C>A (p.Gly811=) c.3411C>A (p.Gly1137=) n.3229C>A n.3437C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197435139C= | CA1146000766 | CRB1 | c.3276C= (p.Gly1092=) c.2157C= (p.Gly719=) c.1419C= (p.Gly473=) c.2940C= (p.Gly980=) c.3204C= (p.Gly1068=) c.2129-461C= (n.2129-461C=) n.3277C= n.3485C= c.2694C= (p.Gly898=) c.1719C= (p.Gly573=) c.2433C= (p.Gly811=) c.3411C= (p.Gly1137=) n.3229C= n.3437C= | |
1 | g.197435139C>G | CA422809060 | CRB1 | c.3276C>G (p.Gly1092=) c.2157C>G (p.Gly719=) c.1419C>G (p.Gly473=) c.2940C>G (p.Gly980=) c.3204C>G (p.Gly1068=) c.2129-461C>G (n.2129-461C>G) n.3277C>G n.3485C>G c.2694C>G (p.Gly898=) c.1719C>G (p.Gly573=) c.2433C>G (p.Gly811=) c.3411C>G (p.Gly1137=) n.3229C>G n.3437C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197435139C>T | CA422809059 | CRB1 | c.3276C>T (p.Gly1092=) c.2157C>T (p.Gly719=) c.1419C>T (p.Gly473=) c.2940C>T (p.Gly980=) c.3204C>T (p.Gly1068=) c.2129-461C>T (n.2129-461C>T) n.3277C>T n.3485C>T c.2694C>T (p.Gly898=) c.1719C>T (p.Gly573=) c.2433C>T (p.Gly811=) c.3411C>T (p.Gly1137=) n.3229C>T n.3437C>T | dbSNP gnomAD v4 |
1 | g.197435140C>A | CA344046975 | CRB1 | c.3277C>A (p.Leu1093Met) c.2158C>A (p.Leu720Met) c.1420C>A (p.Leu474Met) c.2941C>A (p.Leu981Met) c.3205C>A (p.Leu1069Met) c.2129-460C>A (n.2129-460C>A) n.3278C>A n.3486C>A c.2695C>A (p.Leu899Met) c.1720C>A (p.Leu574Met) c.2434C>A (p.Leu812Met) c.3412C>A (p.Leu1138Met) n.3230C>A n.3438C>A | |
1 | g.197435140C= | CA1218068810 | CRB1 | c.3277C= (p.Leu1093=) c.2158C= (p.Leu720=) c.1420C= (p.Leu474=) c.2941C= (p.Leu981=) c.3205C= (p.Leu1069=) c.2129-460C= (n.2129-460C=) n.3278C= n.3486C= c.2695C= (p.Leu899=) c.1720C= (p.Leu574=) c.2434C= (p.Leu812=) c.3412C= (p.Leu1138=) n.3230C= n.3438C= | |
1 | g.197435140C>G | CA344046976 | CRB1 | c.3277C>G (p.Leu1093Val) c.2158C>G (p.Leu720Val) c.1420C>G (p.Leu474Val) c.2941C>G (p.Leu981Val) c.3205C>G (p.Leu1069Val) c.2129-460C>G (n.2129-460C>G) n.3278C>G n.3486C>G c.2695C>G (p.Leu899Val) c.1720C>G (p.Leu574Val) c.2434C>G (p.Leu812Val) c.3412C>G (p.Leu1138Val) n.3230C>G n.3438C>G | dbSNP gnomAD v4 |
1 | g.197435140C>T | CA35907324 | CRB1 | c.3277C>T (p.Leu1093=) c.2158C>T (p.Leu720=) c.1420C>T (p.Leu474=) c.2941C>T (p.Leu981=) c.3205C>T (p.Leu1069=) c.2129-460C>T (n.2129-460C>T) n.3278C>T n.3486C>T c.2695C>T (p.Leu899=) c.1720C>T (p.Leu574=) c.2434C>T (p.Leu812=) c.3412C>T (p.Leu1138=) n.3230C>T n.3438C>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
1 | g.197435141T>A | CA344046977 | CRB1 | c.3278T>A (p.Leu1093Gln) c.2159T>A (p.Leu720Gln) c.1421T>A (p.Leu474Gln) c.2942T>A (p.Leu981Gln) c.3206T>A (p.Leu1069Gln) c.2129-459T>A (n.2129-459T>A) n.3279T>A n.3487T>A c.2696T>A (p.Leu899Gln) c.1721T>A (p.Leu574Gln) c.2435T>A (p.Leu812Gln) c.3413T>A (p.Leu1138Gln) n.3231T>A n.3439T>A | |
1 | g.197435141T>C | CA344046978 | CRB1 | c.3278T>C (p.Leu1093Pro) c.2159T>C (p.Leu720Pro) c.1421T>C (p.Leu474Pro) c.2942T>C (p.Leu981Pro) c.3206T>C (p.Leu1069Pro) c.2129-459T>C (n.2129-459T>C) n.3279T>C n.3487T>C c.2696T>C (p.Leu899Pro) c.1721T>C (p.Leu574Pro) c.2435T>C (p.Leu812Pro) c.3413T>C (p.Leu1138Pro) n.3231T>C n.3439T>C | gnomAD v4 |
1 | g.197435141T>G | CA344046979 | CRB1 | c.3278T>G (p.Leu1093Arg) c.2159T>G (p.Leu720Arg) c.1421T>G (p.Leu474Arg) c.2942T>G (p.Leu981Arg) c.3206T>G (p.Leu1069Arg) c.2129-459T>G (n.2129-459T>G) n.3279T>G n.3487T>G c.2696T>G (p.Leu899Arg) c.1721T>G (p.Leu574Arg) c.2435T>G (p.Leu812Arg) c.3413T>G (p.Leu1138Arg) n.3231T>G n.3439T>G | |
1 | g.197435142G>A | CA422809078 | CRB1 | c.3279G>A (p.Leu1093=) c.2160G>A (p.Leu720=) c.1422G>A (p.Leu474=) c.2943G>A (p.Leu981=) c.3207G>A (p.Leu1069=) c.2129-458G>A (n.2129-458G>A) n.3280G>A n.3488G>A c.2697G>A (p.Leu899=) c.1722G>A (p.Leu574=) c.2436G>A (p.Leu812=) c.3414G>A (p.Leu1138=) n.3232G>A n.3440G>A | ClinVar gnomAD v4 |
1 | g.197435142G>C | CA422809079 | CRB1 | c.3279G>C (p.Leu1093=) c.2160G>C (p.Leu720=) c.1422G>C (p.Leu474=) c.2943G>C (p.Leu981=) c.3207G>C (p.Leu1069=) c.2129-458G>C (n.2129-458G>C) n.3280G>C n.3488G>C c.2697G>C (p.Leu899=) c.1722G>C (p.Leu574=) c.2436G>C (p.Leu812=) c.3414G>C (p.Leu1138=) n.3232G>C n.3440G>C | |
1 | g.197435142G>T | CA422809080 | CRB1 | c.3279G>T (p.Leu1093=) c.2160G>T (p.Leu720=) c.1422G>T (p.Leu474=) c.2943G>T (p.Leu981=) c.3207G>T (p.Leu1069=) c.2129-458G>T (n.2129-458G>T) n.3280G>T n.3488G>T c.2697G>T (p.Leu899=) c.1722G>T (p.Leu574=) c.2436G>T (p.Leu812=) c.3414G>T (p.Leu1138=) n.3232G>T n.3440G>T | |
1 | g.197435143C>A | CA344046980 | CRB1 | c.3280C>A (p.Gln1094Lys) c.2161C>A (p.Gln721Lys) c.1423C>A (p.Gln475Lys) c.2944C>A (p.Gln982Lys) c.3208C>A (p.Gln1070Lys) c.2129-457C>A (n.2129-457C>A) n.3281C>A n.3489C>A c.2698C>A (p.Gln900Lys) c.1723C>A (p.Gln575Lys) c.2437C>A (p.Gln813Lys) c.3415C>A (p.Gln1139Lys) n.3233C>A n.3441C>A | |
1 | g.197435143C>G | CA344046982 | CRB1 | c.3280C>G (p.Gln1094Glu) c.2161C>G (p.Gln721Glu) c.1423C>G (p.Gln475Glu) c.2944C>G (p.Gln982Glu) c.3208C>G (p.Gln1070Glu) c.2129-457C>G (n.2129-457C>G) n.3281C>G n.3489C>G c.2698C>G (p.Gln900Glu) c.1723C>G (p.Gln575Glu) c.2437C>G (p.Gln813Glu) c.3415C>G (p.Gln1139Glu) n.3233C>G n.3441C>G | |
1 | g.197435143C>T | CA344046981 | CRB1 | c.3280C>T (p.Gln1094Ter) c.2161C>T (p.Gln721Ter) c.1423C>T (p.Gln475Ter) c.2944C>T (p.Gln982Ter) c.3208C>T (p.Gln1070Ter) c.2129-457C>T (n.2129-457C>T) n.3281C>T n.3489C>T c.2698C>T (p.Gln900Ter) c.1723C>T (p.Gln575Ter) c.2437C>T (p.Gln813Ter) c.3415C>T (p.Gln1139Ter) n.3233C>T n.3441C>T | gnomAD v4 |
1 | g.197435144A>C | CA344046983 | CRB1 | c.3281A>C (p.Gln1094Pro) c.2162A>C (p.Gln721Pro) c.1424A>C (p.Gln475Pro) c.2945A>C (p.Gln982Pro) c.3209A>C (p.Gln1070Pro) c.2129-456A>C (n.2129-456A>C) n.3282A>C n.3490A>C c.2699A>C (p.Gln900Pro) c.1724A>C (p.Gln575Pro) c.2438A>C (p.Gln813Pro) c.3416A>C (p.Gln1139Pro) n.3234A>C n.3442A>C | |
1 | g.197435144A>G | CA344046984 | CRB1 | c.3281A>G (p.Gln1094Arg) c.2162A>G (p.Gln721Arg) c.1424A>G (p.Gln475Arg) c.2945A>G (p.Gln982Arg) c.3209A>G (p.Gln1070Arg) c.2129-456A>G (n.2129-456A>G) n.3282A>G n.3490A>G c.2699A>G (p.Gln900Arg) c.1724A>G (p.Gln575Arg) c.2438A>G (p.Gln813Arg) c.3416A>G (p.Gln1139Arg) n.3234A>G n.3442A>G | gnomAD v4 |
1 | g.197435144A>T | CA344046985 | CRB1 | c.3281A>T (p.Gln1094Leu) c.2162A>T (p.Gln721Leu) c.1424A>T (p.Gln475Leu) c.2945A>T (p.Gln982Leu) c.3209A>T (p.Gln1070Leu) c.2129-456A>T (n.2129-456A>T) n.3282A>T n.3490A>T c.2699A>T (p.Gln900Leu) c.1724A>T (p.Gln575Leu) c.2438A>T (p.Gln813Leu) c.3416A>T (p.Gln1139Leu) n.3234A>T n.3442A>T | |
1 | g.197435145del | CA2649670642 | CRB1 | c.3282del (p.Cys1096ValfsTer2) c.2163del (p.Cys723ValfsTer2) c.1425del (p.Cys477ValfsTer2) c.2946del (p.Cys984ValfsTer2) c.3210del (p.Cys1072ValfsTer2) c.2129-455del (n.2129-455del) n.3283del n.3491del c.2700del (p.Cys902ValfsTer2) c.1725del (p.Cys577ValfsTer2) c.2439del (p.Cys815ValfsTer2) c.3417del (p.Cys1141ValfsTer2) n.3235del n.3443del | gnomAD v4 |
1 | g.197435145A= | CA1218068811 | CRB1 | c.3282A= (p.Gln1094=) c.2163A= (p.Gln721=) c.1425A= (p.Gln475=) c.2946A= (p.Gln982=) c.3210A= (p.Gln1070=) c.2129-455A= (n.2129-455A=) n.3283A= n.3491A= c.2700A= (p.Gln900=) c.1725A= (p.Gln575=) c.2439A= (p.Gln813=) c.3417A= (p.Gln1139=) n.3235A= n.3443A= | |
1 | g.197435145A>C | CA1312310 | CRB1 | c.3282A>C (p.Gln1094His) c.2163A>C (p.Gln721His) c.1425A>C (p.Gln475His) c.2946A>C (p.Gln982His) c.3210A>C (p.Gln1070His) c.2129-455A>C (n.2129-455A>C) n.3283A>C n.3491A>C c.2700A>C (p.Gln900His) c.1725A>C (p.Gln575His) c.2439A>C (p.Gln813His) c.3417A>C (p.Gln1139His) n.3235A>C n.3443A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197435145A>G | CA1312309 | CRB1 | c.3282A>G (p.Gln1094=) c.2163A>G (p.Gln721=) c.1425A>G (p.Gln475=) c.2946A>G (p.Gln982=) c.3210A>G (p.Gln1070=) c.2129-455A>G (n.2129-455A>G) n.3283A>G n.3491A>G c.2700A>G (p.Gln900=) c.1725A>G (p.Gln575=) c.2439A>G (p.Gln813=) c.3417A>G (p.Gln1139=) n.3235A>G n.3443A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197435145A>T | CA344046986 | CRB1 | c.3282A>T (p.Gln1094His) c.2163A>T (p.Gln721His) c.1425A>T (p.Gln475His) c.2946A>T (p.Gln982His) c.3210A>T (p.Gln1070His) c.2129-455A>T (n.2129-455A>T) n.3283A>T n.3491A>T c.2700A>T (p.Gln900His) c.1725A>T (p.Gln575His) c.2439A>T (p.Gln813His) c.3417A>T (p.Gln1139His) n.3235A>T n.3443A>T | ClinVar dbSNP gnomAD v4 |
1 | g.197435146G>A | CA1312311 | CRB1 | c.3283G>A (p.Gly1095Arg) c.2164G>A (p.Gly722Arg) c.1426G>A (p.Gly476Arg) c.2947G>A (p.Gly983Arg) c.3211G>A (p.Gly1071Arg) c.2129-454G>A (n.2129-454G>A) n.3284G>A n.3492G>A c.2701G>A (p.Gly901Arg) c.1726G>A (p.Gly576Arg) c.2440G>A (p.Gly814Arg) c.3418G>A (p.Gly1140Arg) n.3236G>A n.3444G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197435146G>C | CA344046987 | CRB1 | c.3283G>C (p.Gly1095Arg) c.2164G>C (p.Gly722Arg) c.1426G>C (p.Gly476Arg) c.2947G>C (p.Gly983Arg) c.3211G>C (p.Gly1071Arg) c.2129-454G>C (n.2129-454G>C) n.3284G>C n.3492G>C c.2701G>C (p.Gly901Arg) c.1726G>C (p.Gly576Arg) c.2440G>C (p.Gly814Arg) c.3418G>C (p.Gly1140Arg) n.3236G>C n.3444G>C | |
1 | g.197435146G= | CA1218068812 | CRB1 | c.3283G= (p.Gly1095=) c.2164G= (p.Gly722=) c.1426G= (p.Gly476=) c.2947G= (p.Gly983=) c.3211G= (p.Gly1071=) c.2129-454G= (n.2129-454G=) n.3284G= n.3492G= c.2701G= (p.Gly901=) c.1726G= (p.Gly576=) c.2440G= (p.Gly814=) c.3418G= (p.Gly1140=) n.3236G= n.3444G= | |
1 | g.197435146G>T | CA344046988 | CRB1 | c.3283G>T (p.Gly1095Trp) c.2164G>T (p.Gly722Trp) c.1426G>T (p.Gly476Trp) c.2947G>T (p.Gly983Trp) c.3211G>T (p.Gly1071Trp) c.2129-454G>T (n.2129-454G>T) n.3284G>T n.3492G>T c.2701G>T (p.Gly901Trp) c.1726G>T (p.Gly576Trp) c.2440G>T (p.Gly814Trp) c.3418G>T (p.Gly1140Trp) n.3236G>T n.3444G>T | COSMIC COSMIC |
1 | g.197435147G>A | CA1312312 | CRB1 | c.3284G>A (p.Gly1095Glu) c.2165G>A (p.Gly722Glu) c.1427G>A (p.Gly476Glu) c.2948G>A (p.Gly983Glu) c.3212G>A (p.Gly1071Glu) c.2129-453G>A (n.2129-453G>A) n.3285G>A n.3493G>A c.2702G>A (p.Gly901Glu) c.1727G>A (p.Gly576Glu) c.2441G>A (p.Gly814Glu) c.3419G>A (p.Gly1140Glu) n.3237G>A n.3445G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197435147G>C | CA344046989 | CRB1 | c.3284G>C (p.Gly1095Ala) c.2165G>C (p.Gly722Ala) c.1427G>C (p.Gly476Ala) c.2948G>C (p.Gly983Ala) c.3212G>C (p.Gly1071Ala) c.2129-453G>C (n.2129-453G>C) n.3285G>C n.3493G>C c.2702G>C (p.Gly901Ala) c.1727G>C (p.Gly576Ala) c.2441G>C (p.Gly814Ala) c.3419G>C (p.Gly1140Ala) n.3237G>C n.3445G>C | COSMIC COSMIC |
1 | g.197435147G= | CA1218068813 | CRB1 | c.3284G= (p.Gly1095=) c.2165G= (p.Gly722=) c.1427G= (p.Gly476=) c.2948G= (p.Gly983=) c.3212G= (p.Gly1071=) c.2129-453G= (n.2129-453G=) n.3285G= n.3493G= c.2702G= (p.Gly901=) c.1727G= (p.Gly576=) c.2441G= (p.Gly814=) c.3419G= (p.Gly1140=) n.3237G= n.3445G= | |
1 | g.197435147G>T | CA344046990 | CRB1 | c.3284G>T (p.Gly1095Val) c.2165G>T (p.Gly722Val) c.1427G>T (p.Gly476Val) c.2948G>T (p.Gly983Val) c.3212G>T (p.Gly1071Val) c.2129-453G>T (n.2129-453G>T) n.3285G>T n.3493G>T c.2702G>T (p.Gly901Val) c.1727G>T (p.Gly576Val) c.2441G>T (p.Gly814Val) c.3419G>T (p.Gly1140Val) n.3237G>T n.3445G>T | |
1 | g.197435148G>A | CA422809089 | CRB1 | c.3285G>A (p.Gly1095=) c.2166G>A (p.Gly722=) c.1428G>A (p.Gly476=) c.2949G>A (p.Gly983=) c.3213G>A (p.Gly1071=) c.2129-452G>A (n.2129-452G>A) n.3286G>A n.3494G>A c.2703G>A (p.Gly901=) c.1728G>A (p.Gly576=) c.2442G>A (p.Gly814=) c.3420G>A (p.Gly1140=) n.3238G>A n.3446G>A | dbSNP gnomAD v4 |
1 | g.197435148G>C | CA35907364 | CRB1 | c.3285G>C (p.Gly1095=) c.2166G>C (p.Gly722=) c.1428G>C (p.Gly476=) c.2949G>C (p.Gly983=) c.3213G>C (p.Gly1071=) c.2129-452G>C (n.2129-452G>C) n.3286G>C n.3494G>C c.2703G>C (p.Gly901=) c.1728G>C (p.Gly576=) c.2442G>C (p.Gly814=) c.3420G>C (p.Gly1140=) n.3238G>C n.3446G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.197435148G= | CA1218068814 | CRB1 | c.3285G= (p.Gly1095=) c.2166G= (p.Gly722=) c.1428G= (p.Gly476=) c.2949G= (p.Gly983=) c.3213G= (p.Gly1071=) c.2129-452G= (n.2129-452G=) n.3286G= n.3494G= c.2703G= (p.Gly901=) c.1728G= (p.Gly576=) c.2442G= (p.Gly814=) c.3420G= (p.Gly1140=) n.3238G= n.3446G= | |
1 | g.197435148G>T | CA422809092 | CRB1 | c.3285G>T (p.Gly1095=) c.2166G>T (p.Gly722=) c.1428G>T (p.Gly476=) c.2949G>T (p.Gly983=) c.3213G>T (p.Gly1071=) c.2129-452G>T (n.2129-452G>T) n.3286G>T n.3494G>T c.2703G>T (p.Gly901=) c.1728G>T (p.Gly576=) c.2442G>T (p.Gly814=) c.3420G>T (p.Gly1140=) n.3238G>T n.3446G>T | ClinVar dbSNP gnomAD v4 |
1 | g.197435149T>A | CA344046992 | CRB1 | c.3286T>A (p.Cys1096Ser) c.2167T>A (p.Cys723Ser) c.1429T>A (p.Cys477Ser) c.2950T>A (p.Cys984Ser) c.3214T>A (p.Cys1072Ser) c.2129-451T>A (n.2129-451T>A) n.3287T>A n.3495T>A c.2704T>A (p.Cys902Ser) c.1729T>A (p.Cys577Ser) c.2443T>A (p.Cys815Ser) c.3421T>A (p.Cys1141Ser) n.3239T>A n.3447T>A | |
1 | g.197435149T>C | CA344046993 | CRB1 | c.3286T>C (p.Cys1096Arg) c.2167T>C (p.Cys723Arg) c.1429T>C (p.Cys477Arg) c.2950T>C (p.Cys984Arg) c.3214T>C (p.Cys1072Arg) c.2129-451T>C (n.2129-451T>C) n.3287T>C n.3495T>C c.2704T>C (p.Cys902Arg) c.1729T>C (p.Cys577Arg) c.2443T>C (p.Cys815Arg) c.3421T>C (p.Cys1141Arg) n.3239T>C n.3447T>C | |
1 | g.197435149T>G | CA344046991 | CRB1 | c.3286T>G (p.Cys1096Gly) c.2167T>G (p.Cys723Gly) c.1429T>G (p.Cys477Gly) c.2950T>G (p.Cys984Gly) c.3214T>G (p.Cys1072Gly) c.2129-451T>G (n.2129-451T>G) n.3287T>G n.3495T>G c.2704T>G (p.Cys902Gly) c.1729T>G (p.Cys577Gly) c.2443T>G (p.Cys815Gly) c.3421T>G (p.Cys1141Gly) n.3239T>G n.3447T>G | |
1 | g.197435150G>A | CA344046994 | CRB1 | c.3287G>A (p.Cys1096Tyr) c.2168G>A (p.Cys723Tyr) c.1430G>A (p.Cys477Tyr) c.2951G>A (p.Cys984Tyr) c.3215G>A (p.Cys1072Tyr) c.2129-450G>A (n.2129-450G>A) n.3288G>A n.3496G>A c.2705G>A (p.Cys902Tyr) c.1730G>A (p.Cys577Tyr) c.2444G>A (p.Cys815Tyr) c.3422G>A (p.Cys1141Tyr) n.3240G>A n.3448G>A | |
1 | g.197435150G>C | CA344046995 | CRB1 | c.3287G>C (p.Cys1096Ser) c.2168G>C (p.Cys723Ser) c.1430G>C (p.Cys477Ser) c.2951G>C (p.Cys984Ser) c.3215G>C (p.Cys1072Ser) c.2129-450G>C (n.2129-450G>C) n.3288G>C n.3496G>C c.2705G>C (p.Cys902Ser) c.1730G>C (p.Cys577Ser) c.2444G>C (p.Cys815Ser) c.3422G>C (p.Cys1141Ser) n.3240G>C n.3448G>C | |
1 | g.197435150G>T | CA344046996 | CRB1 | c.3287G>T (p.Cys1096Phe) c.2168G>T (p.Cys723Phe) c.1430G>T (p.Cys477Phe) c.2951G>T (p.Cys984Phe) c.3215G>T (p.Cys1072Phe) c.2129-450G>T (n.2129-450G>T) n.3288G>T n.3496G>T c.2705G>T (p.Cys902Phe) c.1730G>T (p.Cys577Phe) c.2444G>T (p.Cys815Phe) c.3422G>T (p.Cys1141Phe) n.3240G>T n.3448G>T | |
1 | g.197435151T>A | CA344046997 | CRB1 | c.3288T>A (p.Cys1096Ter) c.2169T>A (p.Cys723Ter) c.1431T>A (p.Cys477Ter) c.2952T>A (p.Cys984Ter) c.3216T>A (p.Cys1072Ter) c.2129-449T>A (n.2129-449T>A) n.3289T>A n.3497T>A c.2706T>A (p.Cys902Ter) c.1731T>A (p.Cys577Ter) c.2445T>A (p.Cys815Ter) c.3423T>A (p.Cys1141Ter) n.3241T>A n.3449T>A | ClinVar |
1 | g.197435151T>C | CA422809095 | CRB1 | c.3288T>C (p.Cys1096=) c.2169T>C (p.Cys723=) c.1431T>C (p.Cys477=) c.2952T>C (p.Cys984=) c.3216T>C (p.Cys1072=) c.2129-449T>C (n.2129-449T>C) n.3289T>C n.3497T>C c.2706T>C (p.Cys902=) c.1731T>C (p.Cys577=) c.2445T>C (p.Cys815=) c.3423T>C (p.Cys1141=) n.3241T>C n.3449T>C | gnomAD v4 |
1 | g.197435151T>G | CA344046998 | CRB1 | c.3288T>G (p.Cys1096Trp) c.2169T>G (p.Cys723Trp) c.1431T>G (p.Cys477Trp) c.2952T>G (p.Cys984Trp) c.3216T>G (p.Cys1072Trp) c.2129-449T>G (n.2129-449T>G) n.3289T>G n.3497T>G c.2706T>G (p.Cys902Trp) c.1731T>G (p.Cys577Trp) c.2445T>G (p.Cys815Trp) c.3423T>G (p.Cys1141Trp) n.3241T>G n.3449T>G | |
1 | g.197435152C>A | CA344047000 | CRB1 | c.3289C>A (p.Leu1097Ile) c.2170C>A (p.Leu724Ile) c.1432C>A (p.Leu478Ile) c.2953C>A (p.Leu985Ile) c.3217C>A (p.Leu1073Ile) c.2129-448C>A (n.2129-448C>A) n.3290C>A n.3498C>A c.2707C>A (p.Leu903Ile) c.1732C>A (p.Leu578Ile) c.2446C>A (p.Leu816Ile) c.3424C>A (p.Leu1142Ile) n.3242C>A n.3450C>A | |
1 | g.197435152C= | CA1218068815 | CRB1 | c.3289C= (p.Leu1097=) c.2170C= (p.Leu724=) c.1432C= (p.Leu478=) c.2953C= (p.Leu985=) c.3217C= (p.Leu1073=) c.2129-448C= (n.2129-448C=) n.3290C= n.3498C= c.2707C= (p.Leu903=) c.1732C= (p.Leu578=) c.2446C= (p.Leu816=) c.3424C= (p.Leu1142=) n.3242C= n.3450C= | |
1 | g.197435152C>G | CA344046999 | CRB1 | c.3289C>G (p.Leu1097Val) c.2170C>G (p.Leu724Val) c.1432C>G (p.Leu478Val) c.2953C>G (p.Leu985Val) c.3217C>G (p.Leu1073Val) c.2129-448C>G (n.2129-448C>G) n.3290C>G n.3498C>G c.2707C>G (p.Leu903Val) c.1732C>G (p.Leu578Val) c.2446C>G (p.Leu816Val) c.3424C>G (p.Leu1142Val) n.3242C>G n.3450C>G | dbSNP |
1 | g.197435152C>T | CA422809096 | CRB1 | c.3289C>T (p.Leu1097=) c.2170C>T (p.Leu724=) c.1432C>T (p.Leu478=) c.2953C>T (p.Leu985=) c.3217C>T (p.Leu1073=) c.2129-448C>T (n.2129-448C>T) n.3290C>T n.3498C>T c.2707C>T (p.Leu903=) c.1732C>T (p.Leu578=) c.2446C>T (p.Leu816=) c.3424C>T (p.Leu1142=) n.3242C>T n.3450C>T | |
1 | g.197435153T>A | CA344047001 | CRB1 | c.3290T>A (p.Leu1097Gln) c.2171T>A (p.Leu724Gln) c.1433T>A (p.Leu478Gln) c.2954T>A (p.Leu985Gln) c.3218T>A (p.Leu1073Gln) c.2129-447T>A (n.2129-447T>A) n.3291T>A n.3499T>A c.2708T>A (p.Leu903Gln) c.1733T>A (p.Leu578Gln) c.2447T>A (p.Leu816Gln) c.3425T>A (p.Leu1142Gln) n.3243T>A n.3451T>A | |
1 | g.197435153T>C | CA344047002 | CRB1 | c.3290T>C (p.Leu1097Pro) c.2171T>C (p.Leu724Pro) c.1433T>C (p.Leu478Pro) c.2954T>C (p.Leu985Pro) c.3218T>C (p.Leu1073Pro) c.2129-447T>C (n.2129-447T>C) n.3291T>C n.3499T>C c.2708T>C (p.Leu903Pro) c.1733T>C (p.Leu578Pro) c.2447T>C (p.Leu816Pro) c.3425T>C (p.Leu1142Pro) n.3243T>C n.3451T>C | |
1 | g.197435153T>G | CA344047003 | CRB1 | c.3290T>G (p.Leu1097Arg) c.2171T>G (p.Leu724Arg) c.1433T>G (p.Leu478Arg) c.2954T>G (p.Leu985Arg) c.3218T>G (p.Leu1073Arg) c.2129-447T>G (n.2129-447T>G) n.3291T>G n.3499T>G c.2708T>G (p.Leu903Arg) c.1733T>G (p.Leu578Arg) c.2447T>G (p.Leu816Arg) c.3425T>G (p.Leu1142Arg) n.3243T>G n.3451T>G | gnomAD v4 |
1 | g.197435153dup | CA2649670643 | CRB1 | c.3290dup (p.Ser1098LysfsTer14) c.2171dup (p.Ser725LysfsTer14) c.1433dup (p.Ser479LysfsTer14) c.2954dup (p.Ser986LysfsTer14) c.3218dup (p.Ser1074LysfsTer14) c.2129-447dup (n.2129-447dup) n.3291dup n.3499dup c.2708dup (p.Ser904LysfsTer14) c.1733dup (p.Ser579LysfsTer14) c.2447dup (p.Ser817LysfsTer14) c.3425dup (p.Ser1143LysfsTer14) n.3243dup n.3451dup | gnomAD v4 |
1 | g.197435154A>C | CA422809102 | CRB1 | c.3291A>C (p.Leu1097=) c.2172A>C (p.Leu724=) c.1434A>C (p.Leu478=) c.2955A>C (p.Leu985=) c.3219A>C (p.Leu1073=) c.2129-446A>C (n.2129-446A>C) n.3292A>C n.3500A>C c.2709A>C (p.Leu903=) c.1734A>C (p.Leu578=) c.2448A>C (p.Leu816=) c.3426A>C (p.Leu1142=) n.3244A>C n.3452A>C | |
1 | g.197435154A>G | CA422809104 | CRB1 | c.3291A>G (p.Leu1097=) c.2172A>G (p.Leu724=) c.1434A>G (p.Leu478=) c.2955A>G (p.Leu985=) c.3219A>G (p.Leu1073=) c.2129-446A>G (n.2129-446A>G) n.3292A>G n.3500A>G c.2709A>G (p.Leu903=) c.1734A>G (p.Leu578=) c.2448A>G (p.Leu816=) c.3426A>G (p.Leu1142=) n.3244A>G n.3452A>G | |
1 | g.197435154A>T | CA422809105 | CRB1 | c.3291A>T (p.Leu1097=) c.2172A>T (p.Leu724=) c.1434A>T (p.Leu478=) c.2955A>T (p.Leu985=) c.3219A>T (p.Leu1073=) c.2129-446A>T (n.2129-446A>T) n.3292A>T n.3500A>T c.2709A>T (p.Leu903=) c.1734A>T (p.Leu578=) c.2448A>T (p.Leu816=) c.3426A>T (p.Leu1142=) n.3244A>T n.3452A>T | |
1 | g.197435155del | CA2580061938 | CRB1 | c.3292del (p.Ser1098ValfsTer3) c.2173del (p.Ser725ValfsTer3) c.1435del (p.Ser479ValfsTer3) c.2956del (p.Ser986ValfsTer3) c.3220del (p.Ser1074ValfsTer3) c.2129-445del (n.2129-445del) n.3293del n.3501del c.2710del (p.Ser904ValfsTer3) c.1735del (p.Ser579ValfsTer3) c.2449del (p.Ser817ValfsTer3) c.3427del (p.Ser1143ValfsTer3) n.3245del n.3453del | ClinVar |
1 | g.197435155A>C | CA344047004 | CRB1 | c.3292A>C (p.Ser1098Arg) c.2173A>C (p.Ser725Arg) c.1435A>C (p.Ser479Arg) c.2956A>C (p.Ser986Arg) c.3220A>C (p.Ser1074Arg) c.2129-445A>C (n.2129-445A>C) n.3293A>C n.3501A>C c.2710A>C (p.Ser904Arg) c.1735A>C (p.Ser579Arg) c.2449A>C (p.Ser817Arg) c.3427A>C (p.Ser1143Arg) n.3245A>C n.3453A>C | |
1 | g.197435155A>G | CA344047005 | CRB1 | c.3292A>G (p.Ser1098Gly) c.2173A>G (p.Ser725Gly) c.1435A>G (p.Ser479Gly) c.2956A>G (p.Ser986Gly) c.3220A>G (p.Ser1074Gly) c.2129-445A>G (n.2129-445A>G) n.3293A>G n.3501A>G c.2710A>G (p.Ser904Gly) c.1735A>G (p.Ser579Gly) c.2449A>G (p.Ser817Gly) c.3427A>G (p.Ser1143Gly) n.3245A>G n.3453A>G | |
1 | g.197435155A>T | CA344047006 | CRB1 | c.3292A>T (p.Ser1098Cys) c.2173A>T (p.Ser725Cys) c.1435A>T (p.Ser479Cys) c.2956A>T (p.Ser986Cys) c.3220A>T (p.Ser1074Cys) c.2129-445A>T (n.2129-445A>T) n.3293A>T n.3501A>T c.2710A>T (p.Ser904Cys) c.1735A>T (p.Ser579Cys) c.2449A>T (p.Ser817Cys) c.3427A>T (p.Ser1143Cys) n.3245A>T n.3453A>T | |
1 | g.197435156G>A | CA344047007 | CRB1 | c.3293G>A (p.Ser1098Asn) c.2174G>A (p.Ser725Asn) c.1436G>A (p.Ser479Asn) c.2957G>A (p.Ser986Asn) c.3221G>A (p.Ser1074Asn) c.2129-444G>A (n.2129-444G>A) n.3294G>A n.3502G>A c.2711G>A (p.Ser904Asn) c.1736G>A (p.Ser579Asn) c.2450G>A (p.Ser817Asn) c.3428G>A (p.Ser1143Asn) n.3246G>A n.3454G>A | gnomAD v4 |
1 | g.197435156G>C | CA344047009 | CRB1 | c.3293G>C (p.Ser1098Thr) c.2174G>C (p.Ser725Thr) c.1436G>C (p.Ser479Thr) c.2957G>C (p.Ser986Thr) c.3221G>C (p.Ser1074Thr) c.2129-444G>C (n.2129-444G>C) n.3294G>C n.3502G>C c.2711G>C (p.Ser904Thr) c.1736G>C (p.Ser579Thr) c.2450G>C (p.Ser817Thr) c.3428G>C (p.Ser1143Thr) n.3246G>C n.3454G>C | dbSNP gnomAD v4 |
1 | g.197435156G= | CA1218068816 | CRB1 | c.3293G= (p.Ser1098=) c.2174G= (p.Ser725=) c.1436G= (p.Ser479=) c.2957G= (p.Ser986=) c.3221G= (p.Ser1074=) c.2129-444G= (n.2129-444G=) n.3294G= n.3502G= c.2711G= (p.Ser904=) c.1736G= (p.Ser579=) c.2450G= (p.Ser817=) c.3428G= (p.Ser1143=) n.3246G= n.3454G= | |
1 | g.197435156G>T | CA344047008 | CRB1 | c.3293G>T (p.Ser1098Ile) c.2174G>T (p.Ser725Ile) c.1436G>T (p.Ser479Ile) c.2957G>T (p.Ser986Ile) c.3221G>T (p.Ser1074Ile) c.2129-444G>T (n.2129-444G>T) n.3294G>T n.3502G>T c.2711G>T (p.Ser904Ile) c.1736G>T (p.Ser579Ile) c.2450G>T (p.Ser817Ile) c.3428G>T (p.Ser1143Ile) n.3246G>T n.3454G>T | |
1 | g.197435157T>A | CA344047010 | CRB1 | c.3294T>A (p.Ser1098Arg) c.2175T>A (p.Ser725Arg) c.1437T>A (p.Ser479Arg) c.2958T>A (p.Ser986Arg) c.3222T>A (p.Ser1074Arg) c.2129-443T>A (n.2129-443T>A) n.3295T>A n.3503T>A c.2712T>A (p.Ser904Arg) c.1737T>A (p.Ser579Arg) c.2451T>A (p.Ser817Arg) c.3429T>A (p.Ser1143Arg) n.3247T>A n.3455T>A | |
1 | g.197435157T>C | CA422809108 | CRB1 | c.3294T>C (p.Ser1098=) c.2175T>C (p.Ser725=) c.1437T>C (p.Ser479=) c.2958T>C (p.Ser986=) c.3222T>C (p.Ser1074=) c.2129-443T>C (n.2129-443T>C) n.3295T>C n.3503T>C c.2712T>C (p.Ser904=) c.1737T>C (p.Ser579=) c.2451T>C (p.Ser817=) c.3429T>C (p.Ser1143=) n.3247T>C n.3455T>C | |
1 | g.197435157T>G | CA344047011 | CRB1 | c.3294T>G (p.Ser1098Arg) c.2175T>G (p.Ser725Arg) c.1437T>G (p.Ser479Arg) c.2958T>G (p.Ser986Arg) c.3222T>G (p.Ser1074Arg) c.2129-443T>G (n.2129-443T>G) n.3295T>G n.3503T>G c.2712T>G (p.Ser904Arg) c.1737T>G (p.Ser579Arg) c.2451T>G (p.Ser817Arg) c.3429T>G (p.Ser1143Arg) n.3247T>G n.3455T>G | |
1 | g.197435158A>C | CA344047012 | CRB1 | c.3295A>C (p.Thr1099Pro) c.2176A>C (p.Thr726Pro) c.1438A>C (p.Thr480Pro) c.2959A>C (p.Thr987Pro) c.3223A>C (p.Thr1075Pro) c.2129-442A>C (n.2129-442A>C) n.3296A>C n.3504A>C c.2713A>C (p.Thr905Pro) c.1738A>C (p.Thr580Pro) c.2452A>C (p.Thr818Pro) c.3430A>C (p.Thr1144Pro) n.3248A>C n.3456A>C | |
1 | g.197435158A>G | CA344047013 | CRB1 | c.3295A>G (p.Thr1099Ala) c.2176A>G (p.Thr726Ala) c.1438A>G (p.Thr480Ala) c.2959A>G (p.Thr987Ala) c.3223A>G (p.Thr1075Ala) c.2129-442A>G (n.2129-442A>G) n.3296A>G n.3504A>G c.2713A>G (p.Thr905Ala) c.1738A>G (p.Thr580Ala) c.2452A>G (p.Thr818Ala) c.3430A>G (p.Thr1144Ala) n.3248A>G n.3456A>G | |
1 | g.197435158A>T | CA344047014 | CRB1 | c.3295A>T (p.Thr1099Ser) c.2176A>T (p.Thr726Ser) c.1438A>T (p.Thr480Ser) c.2959A>T (p.Thr987Ser) c.3223A>T (p.Thr1075Ser) c.2129-442A>T (n.2129-442A>T) n.3296A>T n.3504A>T c.2713A>T (p.Thr905Ser) c.1738A>T (p.Thr580Ser) c.2452A>T (p.Thr818Ser) c.3430A>T (p.Thr1144Ser) n.3248A>T n.3456A>T | |
1 | g.197435159C>A | CA344047015 | CRB1 | c.3296C>A (p.Thr1099Lys) c.2177C>A (p.Thr726Lys) c.1439C>A (p.Thr480Lys) c.2960C>A (p.Thr987Lys) c.3224C>A (p.Thr1075Lys) c.2129-441C>A (n.2129-441C>A) n.3297C>A n.3505C>A c.2714C>A (p.Thr905Lys) c.1739C>A (p.Thr580Lys) c.2453C>A (p.Thr818Lys) c.3431C>A (p.Thr1144Lys) n.3249C>A n.3457C>A | dbSNP COSMIC COSMIC |
1 | g.197435159C= | CA1218068817 | CRB1 | c.3296C= (p.Thr1099=) c.2177C= (p.Thr726=) c.1439C= (p.Thr480=) c.2960C= (p.Thr987=) c.3224C= (p.Thr1075=) c.2129-441C= (n.2129-441C=) n.3297C= n.3505C= c.2714C= (p.Thr905=) c.1739C= (p.Thr580=) c.2453C= (p.Thr818=) c.3431C= (p.Thr1144=) n.3249C= n.3457C= | |
1 | g.197435159C>G | CA344047016 | CRB1 | c.3296C>G (p.Thr1099Arg) c.2177C>G (p.Thr726Arg) c.1439C>G (p.Thr480Arg) c.2960C>G (p.Thr987Arg) c.3224C>G (p.Thr1075Arg) c.2129-441C>G (n.2129-441C>G) n.3297C>G n.3505C>G c.2714C>G (p.Thr905Arg) c.1739C>G (p.Thr580Arg) c.2453C>G (p.Thr818Arg) c.3431C>G (p.Thr1144Arg) n.3249C>G n.3457C>G | |
1 | g.197435159C>T | CA344047017 | CRB1 | c.3296C>T (p.Thr1099Ile) c.2177C>T (p.Thr726Ile) c.1439C>T (p.Thr480Ile) c.2960C>T (p.Thr987Ile) c.3224C>T (p.Thr1075Ile) c.2129-441C>T (n.2129-441C>T) n.3297C>T n.3505C>T c.2714C>T (p.Thr905Ile) c.1739C>T (p.Thr580Ile) c.2453C>T (p.Thr818Ile) c.3431C>T (p.Thr1144Ile) n.3249C>T n.3457C>T | |
1 | g.197435160A>C | CA422809112 | CRB1 | c.3297A>C (p.Thr1099=) c.2178A>C (p.Thr726=) c.1440A>C (p.Thr480=) c.2961A>C (p.Thr987=) c.3225A>C (p.Thr1075=) c.2129-440A>C (n.2129-440A>C) n.3298A>C n.3506A>C c.2715A>C (p.Thr905=) c.1740A>C (p.Thr580=) c.2454A>C (p.Thr818=) c.3432A>C (p.Thr1144=) n.3250A>C n.3458A>C | |
1 | g.197435160A>G | CA422809113 | CRB1 | c.3297A>G (p.Thr1099=) c.2178A>G (p.Thr726=) c.1440A>G (p.Thr480=) c.2961A>G (p.Thr987=) c.3225A>G (p.Thr1075=) c.2129-440A>G (n.2129-440A>G) n.3298A>G n.3506A>G c.2715A>G (p.Thr905=) c.1740A>G (p.Thr580=) c.2454A>G (p.Thr818=) c.3432A>G (p.Thr1144=) n.3250A>G n.3458A>G | ClinVar dbSNP gnomAD v4 |
1 | g.197435160A>T | CA422809114 | CRB1 | c.3297A>T (p.Thr1099=) c.2178A>T (p.Thr726=) c.1440A>T (p.Thr480=) c.2961A>T (p.Thr987=) c.3225A>T (p.Thr1075=) c.2129-440A>T (n.2129-440A>T) n.3298A>T n.3506A>T c.2715A>T (p.Thr905=) c.1740A>T (p.Thr580=) c.2454A>T (p.Thr818=) c.3432A>T (p.Thr1144=) n.3250A>T n.3458A>T | |
1 | g.197435161A= | CA1218068818 | CRB1 | c.3298A= (p.Ile1100=) c.2179A= (p.Ile727=) c.1441A= (p.Ile481=) c.2962A= (p.Ile988=) c.3226A= (p.Ile1076=) c.2129-439A= (n.2129-439A=) n.3299A= n.3507A= c.2716A= (p.Ile906=) c.1741A= (p.Ile581=) c.2455A= (p.Ile819=) c.3433A= (p.Ile1145=) n.3251A= n.3459A= | |
1 | g.197435161A>C | CA344047018 | CRB1 | c.3298A>C (p.Ile1100Leu) c.2179A>C (p.Ile727Leu) c.1441A>C (p.Ile481Leu) c.2962A>C (p.Ile988Leu) c.3226A>C (p.Ile1076Leu) c.2129-439A>C (n.2129-439A>C) n.3299A>C n.3507A>C c.2716A>C (p.Ile906Leu) c.1741A>C (p.Ile581Leu) c.2455A>C (p.Ile819Leu) c.3433A>C (p.Ile1145Leu) n.3251A>C n.3459A>C | |
1 | g.197435161A>G | CA344047019 | CRB1 | c.3298A>G (p.Ile1100Val) c.2179A>G (p.Ile727Val) c.1441A>G (p.Ile481Val) c.2962A>G (p.Ile988Val) c.3226A>G (p.Ile1076Val) c.2129-439A>G (n.2129-439A>G) n.3299A>G n.3507A>G c.2716A>G (p.Ile906Val) c.1741A>G (p.Ile581Val) c.2455A>G (p.Ile819Val) c.3433A>G (p.Ile1145Val) n.3251A>G n.3459A>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197435161A>T | CA344047020 | CRB1 | c.3298A>T (p.Ile1100Leu) c.2179A>T (p.Ile727Leu) c.1441A>T (p.Ile481Leu) c.2962A>T (p.Ile988Leu) c.3226A>T (p.Ile1076Leu) c.2129-439A>T (n.2129-439A>T) n.3299A>T n.3507A>T c.2716A>T (p.Ile906Leu) c.1741A>T (p.Ile581Leu) c.2455A>T (p.Ile819Leu) c.3433A>T (p.Ile1145Leu) n.3251A>T n.3459A>T | |
1 | g.197435162T>A | CA344047021 | CRB1 | c.3299T>A (p.Ile1100Lys) c.2180T>A (p.Ile727Lys) c.1442T>A (p.Ile481Lys) c.2963T>A (p.Ile988Lys) c.3227T>A (p.Ile1076Lys) c.2129-438T>A (n.2129-438T>A) n.3300T>A n.3508T>A c.2717T>A (p.Ile906Lys) c.1742T>A (p.Ile581Lys) c.2456T>A (p.Ile819Lys) c.3434T>A (p.Ile1145Lys) n.3252T>A n.3460T>A | |
1 | g.197435162T>C | CA228035 | CRB1 | c.3299T>C (p.Ile1100Thr) c.2180T>C (p.Ile727Thr) c.1442T>C (p.Ile481Thr) c.2963T>C (p.Ile988Thr) c.3227T>C (p.Ile1076Thr) c.2129-438T>C (n.2129-438T>C) n.3300T>C n.3508T>C c.2717T>C (p.Ile906Thr) c.1742T>C (p.Ile581Thr) c.2456T>C (p.Ile819Thr) c.3434T>C (p.Ile1145Thr) n.3252T>C n.3460T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.197435162T>G | CA117707 | CRB1 | c.3299T>G (p.Ile1100Arg) c.2180T>G (p.Ile727Arg) c.1442T>G (p.Ile481Arg) c.2963T>G (p.Ile988Arg) c.3227T>G (p.Ile1076Arg) c.2129-438T>G (n.2129-438T>G) n.3300T>G n.3508T>G c.2717T>G (p.Ile906Arg) c.1742T>G (p.Ile581Arg) c.2456T>G (p.Ile819Arg) c.3434T>G (p.Ile1145Arg) n.3252T>G n.3460T>G | ClinVar dbSNP |
1 | g.197435162T= | CA1140762963 | CRB1 | c.3299T= (p.Ile1100=) c.2180T= (p.Ile727=) c.1442T= (p.Ile481=) c.2963T= (p.Ile988=) c.3227T= (p.Ile1076=) c.2129-438T= (n.2129-438T=) n.3300T= n.3508T= c.2717T= (p.Ile906=) c.1742T= (p.Ile581=) c.2456T= (p.Ile819=) c.3434T= (p.Ile1145=) n.3252T= n.3460T= | |
1 | g.197435163A= | CA1218068819 | CRB1 | c.3300A= (p.Ile1100=) c.2181A= (p.Ile727=) c.1443A= (p.Ile481=) c.2964A= (p.Ile988=) c.3228A= (p.Ile1076=) c.2129-437A= (n.2129-437A=) n.3301A= n.3509A= c.2718A= (p.Ile906=) c.1743A= (p.Ile581=) c.2457A= (p.Ile819=) c.3435A= (p.Ile1145=) n.3253A= n.3461A= | |
1 | g.197435163A>C | CA422809118 | CRB1 | c.3300A>C (p.Ile1100=) c.2181A>C (p.Ile727=) c.1443A>C (p.Ile481=) c.2964A>C (p.Ile988=) c.3228A>C (p.Ile1076=) c.2129-437A>C (n.2129-437A>C) n.3301A>C n.3509A>C c.2718A>C (p.Ile906=) c.1743A>C (p.Ile581=) c.2457A>C (p.Ile819=) c.3435A>C (p.Ile1145=) n.3253A>C n.3461A>C | COSMIC |
1 | g.197435163A>G | CA344047022 | CRB1 | c.3300A>G (p.Ile1100Met) c.2181A>G (p.Ile727Met) c.1443A>G (p.Ile481Met) c.2964A>G (p.Ile988Met) c.3228A>G (p.Ile1076Met) c.2129-437A>G (n.2129-437A>G) n.3301A>G n.3509A>G c.2718A>G (p.Ile906Met) c.1743A>G (p.Ile581Met) c.2457A>G (p.Ile819Met) c.3435A>G (p.Ile1145Met) n.3253A>G n.3461A>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197435163A>T | CA422809120 | CRB1 | c.3300A>T (p.Ile1100=) c.2181A>T (p.Ile727=) c.1443A>T (p.Ile481=) c.2964A>T (p.Ile988=) c.3228A>T (p.Ile1076=) c.2129-437A>T (n.2129-437A>T) n.3301A>T n.3509A>T c.2718A>T (p.Ile906=) c.1743A>T (p.Ile581=) c.2457A>T (p.Ile819=) c.3435A>T (p.Ile1145=) n.3253A>T n.3461A>T | |
1 | g.197435164G>A | CA344047023 | CRB1 | c.3301G>A (p.Glu1101Lys) c.2182G>A (p.Glu728Lys) c.1444G>A (p.Glu482Lys) c.2965G>A (p.Glu989Lys) c.3229G>A (p.Glu1077Lys) c.2129-436G>A (n.2129-436G>A) n.3302G>A n.3510G>A c.2719G>A (p.Glu907Lys) c.1744G>A (p.Glu582Lys) c.2458G>A (p.Glu820Lys) c.3436G>A (p.Glu1146Lys) n.3254G>A n.3462G>A | dbSNP |
1 | g.197435164G>C | CA344047025 | CRB1 | c.3301G>C (p.Glu1101Gln) c.2182G>C (p.Glu728Gln) c.1444G>C (p.Glu482Gln) c.2965G>C (p.Glu989Gln) c.3229G>C (p.Glu1077Gln) c.2129-436G>C (n.2129-436G>C) n.3302G>C n.3510G>C c.2719G>C (p.Glu907Gln) c.1744G>C (p.Glu582Gln) c.2458G>C (p.Glu820Gln) c.3436G>C (p.Glu1146Gln) n.3254G>C n.3462G>C | |
1 | g.197435164G= | CA1218068820 | CRB1 | c.3301G= (p.Glu1101=) c.2182G= (p.Glu728=) c.1444G= (p.Glu482=) c.2965G= (p.Glu989=) c.3229G= (p.Glu1077=) c.2129-436G= (n.2129-436G=) n.3302G= n.3510G= c.2719G= (p.Glu907=) c.1744G= (p.Glu582=) c.2458G= (p.Glu820=) c.3436G= (p.Glu1146=) n.3254G= n.3462G= | |
1 | g.197435164G>T | CA344047024 | CRB1 | c.3301G>T (p.Glu1101Ter) c.2182G>T (p.Glu728Ter) c.1444G>T (p.Glu482Ter) c.2965G>T (p.Glu989Ter) c.3229G>T (p.Glu1077Ter) c.2129-436G>T (n.2129-436G>T) n.3302G>T n.3510G>T c.2719G>T (p.Glu907Ter) c.1744G>T (p.Glu582Ter) c.2458G>T (p.Glu820Ter) c.3436G>T (p.Glu1146Ter) n.3254G>T n.3462G>T | COSMIC |
1 | g.197435165A>C | CA344047026 | CRB1 | c.3302A>C (p.Glu1101Ala) c.2183A>C (p.Glu728Ala) c.1445A>C (p.Glu482Ala) c.2966A>C (p.Glu989Ala) c.3230A>C (p.Glu1077Ala) c.2129-435A>C (n.2129-435A>C) n.3303A>C n.3511A>C c.2720A>C (p.Glu907Ala) c.1745A>C (p.Glu582Ala) c.2459A>C (p.Glu820Ala) c.3437A>C (p.Glu1146Ala) n.3255A>C n.3463A>C | |
1 | g.197435165A>G | CA344047027 | CRB1 | c.3302A>G (p.Glu1101Gly) c.2183A>G (p.Glu728Gly) c.1445A>G (p.Glu482Gly) c.2966A>G (p.Glu989Gly) c.3230A>G (p.Glu1077Gly) c.2129-435A>G (n.2129-435A>G) n.3303A>G n.3511A>G c.2720A>G (p.Glu907Gly) c.1745A>G (p.Glu582Gly) c.2459A>G (p.Glu820Gly) c.3437A>G (p.Glu1146Gly) n.3255A>G n.3463A>G | |
1 | g.197435165A>T | CA344047028 | CRB1 | c.3302A>T (p.Glu1101Val) c.2183A>T (p.Glu728Val) c.1445A>T (p.Glu482Val) c.2966A>T (p.Glu989Val) c.3230A>T (p.Glu1077Val) c.2129-435A>T (n.2129-435A>T) n.3303A>T n.3511A>T c.2720A>T (p.Glu907Val) c.1745A>T (p.Glu582Val) c.2459A>T (p.Glu820Val) c.3437A>T (p.Glu1146Val) n.3255A>T n.3463A>T | |
1 | g.197435166A>C | CA344047029 | CRB1 | c.3303A>C (p.Glu1101Asp) c.2184A>C (p.Glu728Asp) c.1446A>C (p.Glu482Asp) c.2967A>C (p.Glu989Asp) c.3231A>C (p.Glu1077Asp) c.2129-434A>C (n.2129-434A>C) n.3304A>C n.3512A>C c.2721A>C (p.Glu907Asp) c.1746A>C (p.Glu582Asp) c.2460A>C (p.Glu820Asp) c.3438A>C (p.Glu1146Asp) n.3256A>C n.3464A>C | |
1 | g.197435166A>G | CA422809125 | CRB1 | c.3303A>G (p.Glu1101=) c.2184A>G (p.Glu728=) c.1446A>G (p.Glu482=) c.2967A>G (p.Glu989=) c.3231A>G (p.Glu1077=) c.2129-434A>G (n.2129-434A>G) n.3304A>G n.3512A>G c.2721A>G (p.Glu907=) c.1746A>G (p.Glu582=) c.2460A>G (p.Glu820=) c.3438A>G (p.Glu1146=) n.3256A>G n.3464A>G | |
1 | g.197435166A>T | CA344047030 | CRB1 | c.3303A>T (p.Glu1101Asp) c.2184A>T (p.Glu728Asp) c.1446A>T (p.Glu482Asp) c.2967A>T (p.Glu989Asp) c.3231A>T (p.Glu1077Asp) c.2129-434A>T (n.2129-434A>T) n.3304A>T n.3512A>T c.2721A>T (p.Glu907Asp) c.1746A>T (p.Glu582Asp) c.2460A>T (p.Glu820Asp) c.3438A>T (p.Glu1146Asp) n.3256A>T n.3464A>T | gnomAD v4 |
1 | g.197435167A= | CA1218068821 | CRB1 | c.3304A= (p.Ile1102=) c.2185A= (p.Ile729=) c.1447A= (p.Ile483=) c.2968A= (p.Ile990=) c.3232A= (p.Ile1078=) c.2129-433A= (n.2129-433A=) n.3305A= n.3513A= c.2722A= (p.Ile908=) c.1747A= (p.Ile583=) c.2461A= (p.Ile821=) c.3439A= (p.Ile1147=) n.3257A= n.3465A= | |
1 | g.197435167A>C | CA344047031 | CRB1 | c.3304A>C (p.Ile1102Leu) c.2185A>C (p.Ile729Leu) c.1447A>C (p.Ile483Leu) c.2968A>C (p.Ile990Leu) c.3232A>C (p.Ile1078Leu) c.2129-433A>C (n.2129-433A>C) n.3305A>C n.3513A>C c.2722A>C (p.Ile908Leu) c.1747A>C (p.Ile583Leu) c.2461A>C (p.Ile821Leu) c.3439A>C (p.Ile1147Leu) n.3257A>C n.3465A>C | |
1 | g.197435167A>G | CA1312313 | CRB1 | c.3304A>G (p.Ile1102Val) c.2185A>G (p.Ile729Val) c.1447A>G (p.Ile483Val) c.2968A>G (p.Ile990Val) c.3232A>G (p.Ile1078Val) c.2129-433A>G (n.2129-433A>G) n.3305A>G n.3513A>G c.2722A>G (p.Ile908Val) c.1747A>G (p.Ile583Val) c.2461A>G (p.Ile821Val) c.3439A>G (p.Ile1147Val) n.3257A>G n.3465A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197435167A>T | CA344047032 | CRB1 | c.3304A>T (p.Ile1102Phe) c.2185A>T (p.Ile729Phe) c.1447A>T (p.Ile483Phe) c.2968A>T (p.Ile990Phe) c.3232A>T (p.Ile1078Phe) c.2129-433A>T (n.2129-433A>T) n.3305A>T n.3513A>T c.2722A>T (p.Ile908Phe) c.1747A>T (p.Ile583Phe) c.2461A>T (p.Ile821Phe) c.3439A>T (p.Ile1147Phe) n.3257A>T n.3465A>T | |
1 | g.197435168T>A | CA344047033 | CRB1 | c.3305T>A (p.Ile1102Asn) c.2186T>A (p.Ile729Asn) c.1448T>A (p.Ile483Asn) c.2969T>A (p.Ile990Asn) c.3233T>A (p.Ile1078Asn) c.2129-432T>A (n.2129-432T>A) n.3306T>A n.3514T>A c.2723T>A (p.Ile908Asn) c.1748T>A (p.Ile583Asn) c.2462T>A (p.Ile821Asn) c.3440T>A (p.Ile1147Asn) n.3258T>A n.3466T>A | |
1 | g.197435168T>C | CA344047034 | CRB1 | c.3305T>C (p.Ile1102Thr) c.2186T>C (p.Ile729Thr) c.1448T>C (p.Ile483Thr) c.2969T>C (p.Ile990Thr) c.3233T>C (p.Ile1078Thr) c.2129-432T>C (n.2129-432T>C) n.3306T>C n.3514T>C c.2723T>C (p.Ile908Thr) c.1748T>C (p.Ile583Thr) c.2462T>C (p.Ile821Thr) c.3440T>C (p.Ile1147Thr) n.3258T>C n.3466T>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197435168T>G | CA344047035 | CRB1 | c.3305T>G (p.Ile1102Ser) c.2186T>G (p.Ile729Ser) c.1448T>G (p.Ile483Ser) c.2969T>G (p.Ile990Ser) c.3233T>G (p.Ile1078Ser) c.2129-432T>G (n.2129-432T>G) n.3306T>G n.3514T>G c.2723T>G (p.Ile908Ser) c.1748T>G (p.Ile583Ser) c.2462T>G (p.Ile821Ser) c.3440T>G (p.Ile1147Ser) n.3258T>G n.3466T>G | |
1 | g.197435168T= | CA1218068822 | CRB1 | c.3305T= (p.Ile1102=) c.2186T= (p.Ile729=) c.1448T= (p.Ile483=) c.2969T= (p.Ile990=) c.3233T= (p.Ile1078=) c.2129-432T= (n.2129-432T=) n.3306T= n.3514T= c.2723T= (p.Ile908=) c.1748T= (p.Ile583=) c.2462T= (p.Ile821=) c.3440T= (p.Ile1147=) n.3258T= n.3466T= | |
1 | g.197435169C>A | CA422809132 | CRB1 | c.3306C>A (p.Ile1102=) c.2187C>A (p.Ile729=) c.1449C>A (p.Ile483=) c.2970C>A (p.Ile990=) c.3234C>A (p.Ile1078=) c.2129-431C>A (n.2129-431C>A) n.3307C>A n.3515C>A c.2724C>A (p.Ile908=) c.1749C>A (p.Ile583=) c.2463C>A (p.Ile821=) c.3441C>A (p.Ile1147=) n.3259C>A n.3467C>A | ClinVar dbSNP gnomAD v4 |
1 | g.197435169C= | CA1144017568 | CRB1 | c.3306C= (p.Ile1102=) c.2187C= (p.Ile729=) c.1449C= (p.Ile483=) c.2970C= (p.Ile990=) c.3234C= (p.Ile1078=) c.2129-431C= (n.2129-431C=) n.3307C= n.3515C= c.2724C= (p.Ile908=) c.1749C= (p.Ile583=) c.2463C= (p.Ile821=) c.3441C= (p.Ile1147=) n.3259C= n.3467C= | |
1 | g.197435169C>G | CA344047036 | CRB1 | c.3306C>G (p.Ile1102Met) c.2187C>G (p.Ile729Met) c.1449C>G (p.Ile483Met) c.2970C>G (p.Ile990Met) c.3234C>G (p.Ile1078Met) c.2129-431C>G (n.2129-431C>G) n.3307C>G n.3515C>G c.2724C>G (p.Ile908Met) c.1749C>G (p.Ile583Met) c.2463C>G (p.Ile821Met) c.3441C>G (p.Ile1147Met) n.3259C>G n.3467C>G | |
1 | g.197435169C>T | CA1312314 | CRB1 | c.3306C>T (p.Ile1102=) c.2187C>T (p.Ile729=) c.1449C>T (p.Ile483=) c.2970C>T (p.Ile990=) c.3234C>T (p.Ile1078=) c.2129-431C>T (n.2129-431C>T) n.3307C>T n.3515C>T c.2724C>T (p.Ile908=) c.1749C>T (p.Ile583=) c.2463C>T (p.Ile821=) c.3441C>T (p.Ile1147=) n.3259C>T n.3467C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.197435170G>A | CA117711 | CRB1 | c.3307G>A (p.Gly1103Arg) c.2188G>A (p.Gly730Arg) c.1450G>A (p.Gly484Arg) c.2971G>A (p.Gly991Arg) c.3235G>A (p.Gly1079Arg) c.2129-430G>A (n.2129-430G>A) n.3308G>A n.3516G>A c.2725G>A (p.Gly909Arg) c.1750G>A (p.Gly584Arg) c.2464G>A (p.Gly822Arg) c.3442G>A (p.Gly1148Arg) n.3260G>A n.3468G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.197435170G>C | CA344047037 | CRB1 | c.3307G>C (p.Gly1103Arg) c.2188G>C (p.Gly730Arg) c.1450G>C (p.Gly484Arg) c.2971G>C (p.Gly991Arg) c.3235G>C (p.Gly1079Arg) c.2129-430G>C (n.2129-430G>C) n.3308G>C n.3516G>C c.2725G>C (p.Gly909Arg) c.1750G>C (p.Gly584Arg) c.2464G>C (p.Gly822Arg) c.3442G>C (p.Gly1148Arg) n.3260G>C n.3468G>C | COSMIC |
1 | g.197435170G= | CA1140762964 | CRB1 | c.3307G= (p.Gly1103=) c.2188G= (p.Gly730=) c.1450G= (p.Gly484=) c.2971G= (p.Gly991=) c.3235G= (p.Gly1079=) c.2129-430G= (n.2129-430G=) n.3308G= n.3516G= c.2725G= (p.Gly909=) c.1750G= (p.Gly584=) c.2464G= (p.Gly822=) c.3442G= (p.Gly1148=) n.3260G= n.3468G= | |
1 | g.197435170G>T | CA344047038 | CRB1 | c.3307G>T (p.Gly1103Ter) c.2188G>T (p.Gly730Ter) c.1450G>T (p.Gly484Ter) c.2971G>T (p.Gly991Ter) c.3235G>T (p.Gly1079Ter) c.2129-430G>T (n.2129-430G>T) n.3308G>T n.3516G>T c.2725G>T (p.Gly909Ter) c.1750G>T (p.Gly584Ter) c.2464G>T (p.Gly822Ter) c.3442G>T (p.Gly1148Ter) n.3260G>T n.3468G>T | |
1 | g.197435171G>A | CA344047039 | CRB1 | c.3308G>A (p.Gly1103Glu) c.2189G>A (p.Gly730Glu) c.1451G>A (p.Gly484Glu) c.2972G>A (p.Gly991Glu) c.3236G>A (p.Gly1079Glu) c.2129-429G>A (n.2129-429G>A) n.3309G>A n.3517G>A c.2726G>A (p.Gly909Glu) c.1751G>A (p.Gly584Glu) c.2465G>A (p.Gly822Glu) c.3443G>A (p.Gly1148Glu) n.3261G>A n.3469G>A | |
1 | g.197435171G>C | CA344047040 | CRB1 | c.3308G>C (p.Gly1103Ala) c.2189G>C (p.Gly730Ala) c.1451G>C (p.Gly484Ala) c.2972G>C (p.Gly991Ala) c.3236G>C (p.Gly1079Ala) c.2129-429G>C (n.2129-429G>C) n.3309G>C n.3517G>C c.2726G>C (p.Gly909Ala) c.1751G>C (p.Gly584Ala) c.2465G>C (p.Gly822Ala) c.3443G>C (p.Gly1148Ala) n.3261G>C n.3469G>C | |
1 | g.197435171G= | CA1218068823 | CRB1 | c.3308G= (p.Gly1103=) c.2189G= (p.Gly730=) c.1451G= (p.Gly484=) c.2972G= (p.Gly991=) c.3236G= (p.Gly1079=) c.2129-429G= (n.2129-429G=) n.3309G= n.3517G= c.2726G= (p.Gly909=) c.1751G= (p.Gly584=) c.2465G= (p.Gly822=) c.3443G= (p.Gly1148=) n.3261G= n.3469G= | |
1 | g.197435171G>T | CA344047041 | CRB1 | c.3308G>T (p.Gly1103Val) c.2189G>T (p.Gly730Val) c.1451G>T (p.Gly484Val) c.2972G>T (p.Gly991Val) c.3236G>T (p.Gly1079Val) c.2129-429G>T (n.2129-429G>T) n.3309G>T n.3517G>T c.2726G>T (p.Gly909Val) c.1751G>T (p.Gly584Val) c.2465G>T (p.Gly822Val) c.3443G>T (p.Gly1148Val) n.3261G>T n.3469G>T | ClinVar dbSNP |
1 | g.197435172A>C | CA422809135 | CRB1 | c.3309A>C (p.Gly1103=) c.2190A>C (p.Gly730=) c.1452A>C (p.Gly484=) c.2973A>C (p.Gly991=) c.3237A>C (p.Gly1079=) c.2129-428A>C (n.2129-428A>C) n.3310A>C n.3518A>C c.2727A>C (p.Gly909=) c.1752A>C (p.Gly584=) c.2466A>C (p.Gly822=) c.3444A>C (p.Gly1148=) n.3262A>C n.3470A>C | |
1 | g.197435172A>G | CA422809137 | CRB1 | c.3309A>G (p.Gly1103=) c.2190A>G (p.Gly730=) c.1452A>G (p.Gly484=) c.2973A>G (p.Gly991=) c.3237A>G (p.Gly1079=) c.2129-428A>G (n.2129-428A>G) n.3310A>G n.3518A>G c.2727A>G (p.Gly909=) c.1752A>G (p.Gly584=) c.2466A>G (p.Gly822=) c.3444A>G (p.Gly1148=) n.3262A>G n.3470A>G | ClinVar |
1 | g.197435172A>T | CA422809136 | CRB1 | c.3309A>T (p.Gly1103=) c.2190A>T (p.Gly730=) c.1452A>T (p.Gly484=) c.2973A>T (p.Gly991=) c.3237A>T (p.Gly1079=) c.2129-428A>T (n.2129-428A>T) n.3310A>T n.3518A>T c.2727A>T (p.Gly909=) c.1752A>T (p.Gly584=) c.2466A>T (p.Gly822=) c.3444A>T (p.Gly1148=) n.3262A>T n.3470A>T | |
1 | g.197435173G>A | CA35907397 | CRB1 | c.3310G>A (p.Gly1104Ser) c.2191G>A (p.Gly731Ser) c.1453G>A (p.Gly485Ser) c.2974G>A (p.Gly992Ser) c.3238G>A (p.Gly1080Ser) c.2129-427G>A (n.2129-427G>A) n.3311G>A n.3519G>A c.2728G>A (p.Gly910Ser) c.1753G>A (p.Gly585Ser) c.2467G>A (p.Gly823Ser) c.3445G>A (p.Gly1149Ser) n.3263G>A n.3471G>A | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197435173G>C | CA344047042 | CRB1 | c.3310G>C (p.Gly1104Arg) c.2191G>C (p.Gly731Arg) c.1453G>C (p.Gly485Arg) c.2974G>C (p.Gly992Arg) c.3238G>C (p.Gly1080Arg) c.2129-427G>C (n.2129-427G>C) n.3311G>C n.3519G>C c.2728G>C (p.Gly910Arg) c.1753G>C (p.Gly585Arg) c.2467G>C (p.Gly823Arg) c.3445G>C (p.Gly1149Arg) n.3263G>C n.3471G>C | |
1 | g.197435173G= | CA1218068824 | CRB1 | c.3310G= (p.Gly1104=) c.2191G= (p.Gly731=) c.1453G= (p.Gly485=) c.2974G= (p.Gly992=) c.3238G= (p.Gly1080=) c.2129-427G= (n.2129-427G=) n.3311G= n.3519G= c.2728G= (p.Gly910=) c.1753G= (p.Gly585=) c.2467G= (p.Gly823=) c.3445G= (p.Gly1149=) n.3263G= n.3471G= | |
1 | g.197435173G>T | CA344047043 | CRB1 | c.3310G>T (p.Gly1104Cys) c.2191G>T (p.Gly731Cys) c.1453G>T (p.Gly485Cys) c.2974G>T (p.Gly992Cys) c.3238G>T (p.Gly1080Cys) c.2129-427G>T (n.2129-427G>T) n.3311G>T n.3519G>T c.2728G>T (p.Gly910Cys) c.1753G>T (p.Gly585Cys) c.2467G>T (p.Gly823Cys) c.3445G>T (p.Gly1149Cys) n.3263G>T n.3471G>T | |
1 | g.197435174G>A | CA344047044 | CRB1 | c.3311G>A (p.Gly1104Asp) c.2192G>A (p.Gly731Asp) c.1454G>A (p.Gly485Asp) c.2975G>A (p.Gly992Asp) c.3239G>A (p.Gly1080Asp) c.2129-426G>A (n.2129-426G>A) n.3312G>A n.3520G>A c.2729G>A (p.Gly910Asp) c.1754G>A (p.Gly585Asp) c.2468G>A (p.Gly823Asp) c.3446G>A (p.Gly1149Asp) n.3264G>A n.3472G>A | dbSNP gnomAD v4 |
1 | g.197435174G>C | CA344047045 | CRB1 | c.3311G>C (p.Gly1104Ala) c.2192G>C (p.Gly731Ala) c.1454G>C (p.Gly485Ala) c.2975G>C (p.Gly992Ala) c.3239G>C (p.Gly1080Ala) c.2129-426G>C (n.2129-426G>C) n.3312G>C n.3520G>C c.2729G>C (p.Gly910Ala) c.1754G>C (p.Gly585Ala) c.2468G>C (p.Gly823Ala) c.3446G>C (p.Gly1149Ala) n.3264G>C n.3472G>C | |
1 | g.197435174G= | CA1218068825 | CRB1 | c.3311G= (p.Gly1104=) c.2192G= (p.Gly731=) c.1454G= (p.Gly485=) c.2975G= (p.Gly992=) c.3239G= (p.Gly1080=) c.2129-426G= (n.2129-426G=) n.3312G= n.3520G= c.2729G= (p.Gly910=) c.1754G= (p.Gly585=) c.2468G= (p.Gly823=) c.3446G= (p.Gly1149=) n.3264G= n.3472G= | |
1 | g.197435174G>T | CA344047046 | CRB1 | c.3311G>T (p.Gly1104Val) c.2192G>T (p.Gly731Val) c.1454G>T (p.Gly485Val) c.2975G>T (p.Gly992Val) c.3239G>T (p.Gly1080Val) c.2129-426G>T (n.2129-426G>T) n.3312G>T n.3520G>T c.2729G>T (p.Gly910Val) c.1754G>T (p.Gly585Val) c.2468G>T (p.Gly823Val) c.3446G>T (p.Gly1149Val) n.3264G>T n.3472G>T | |
1 | g.197435175C>A | CA422809143 | CRB1 | c.3312C>A (p.Gly1104=) c.2193C>A (p.Gly731=) c.1455C>A (p.Gly485=) c.2976C>A (p.Gly992=) c.3240C>A (p.Gly1080=) c.2129-425C>A (n.2129-425C>A) n.3313C>A n.3521C>A c.2730C>A (p.Gly910=) c.1755C>A (p.Gly585=) c.2469C>A (p.Gly823=) c.3447C>A (p.Gly1149=) n.3265C>A n.3473C>A | |
1 | g.197435175C>G | CA422809144 | CRB1 | c.3312C>G (p.Gly1104=) c.2193C>G (p.Gly731=) c.1455C>G (p.Gly485=) c.2976C>G (p.Gly992=) c.3240C>G (p.Gly1080=) c.2129-425C>G (n.2129-425C>G) n.3313C>G n.3521C>G c.2730C>G (p.Gly910=) c.1755C>G (p.Gly585=) c.2469C>G (p.Gly823=) c.3447C>G (p.Gly1149=) n.3265C>G n.3473C>G | ClinVar |
1 | g.197435175C>T | CA422809145 | CRB1 | c.3312C>T (p.Gly1104=) c.2193C>T (p.Gly731=) c.1455C>T (p.Gly485=) c.2976C>T (p.Gly992=) c.3240C>T (p.Gly1080=) c.2129-425C>T (n.2129-425C>T) n.3313C>T n.3521C>T c.2730C>T (p.Gly910=) c.1755C>T (p.Gly585=) c.2469C>T (p.Gly823=) c.3447C>T (p.Gly1149=) n.3265C>T n.3473C>T | ClinVar |
1 | g.197435176A= | CA1218068826 | CRB1 | c.3313A= (p.Ile1105=) c.2194A= (p.Ile732=) c.1456A= (p.Ile486=) c.2977A= (p.Ile993=) c.3241A= (p.Ile1081=) c.2129-424A= (n.2129-424A=) n.3314A= n.3522A= c.2731A= (p.Ile911=) c.1756A= (p.Ile586=) c.2470A= (p.Ile824=) c.3448A= (p.Ile1150=) n.3266A= n.3474A= | |
1 | g.197435176A>C | CA344047048 | CRB1 | c.3313A>C (p.Ile1105Leu) c.2194A>C (p.Ile732Leu) c.1456A>C (p.Ile486Leu) c.2977A>C (p.Ile993Leu) c.3241A>C (p.Ile1081Leu) c.2129-424A>C (n.2129-424A>C) n.3314A>C n.3522A>C c.2731A>C (p.Ile911Leu) c.1756A>C (p.Ile586Leu) c.2470A>C (p.Ile824Leu) c.3448A>C (p.Ile1150Leu) n.3266A>C n.3474A>C | |
1 | g.197435176A>G | CA1312315 | CRB1 | c.3313A>G (p.Ile1105Val) c.2194A>G (p.Ile732Val) c.1456A>G (p.Ile486Val) c.2977A>G (p.Ile993Val) c.3241A>G (p.Ile1081Val) c.2129-424A>G (n.2129-424A>G) n.3314A>G n.3522A>G c.2731A>G (p.Ile911Val) c.1756A>G (p.Ile586Val) c.2470A>G (p.Ile824Val) c.3448A>G (p.Ile1150Val) n.3266A>G n.3474A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197435176A>T | CA344047047 | CRB1 | c.3313A>T (p.Ile1105Phe) c.2194A>T (p.Ile732Phe) c.1456A>T (p.Ile486Phe) c.2977A>T (p.Ile993Phe) c.3241A>T (p.Ile1081Phe) c.2129-424A>T (n.2129-424A>T) n.3314A>T n.3522A>T c.2731A>T (p.Ile911Phe) c.1756A>T (p.Ile586Phe) c.2470A>T (p.Ile824Phe) c.3448A>T (p.Ile1150Phe) n.3266A>T n.3474A>T | |
1 | g.197435177T>A | CA344047049 | CRB1 | c.3314T>A (p.Ile1105Asn) c.2195T>A (p.Ile732Asn) c.1457T>A (p.Ile486Asn) c.2978T>A (p.Ile993Asn) c.3242T>A (p.Ile1081Asn) c.2129-423T>A (n.2129-423T>A) n.3315T>A n.3523T>A c.2732T>A (p.Ile911Asn) c.1757T>A (p.Ile586Asn) c.2471T>A (p.Ile824Asn) c.3449T>A (p.Ile1150Asn) n.3267T>A n.3475T>A | |
1 | g.197435177T>C | CA344047050 | CRB1 | c.3314T>C (p.Ile1105Thr) c.2195T>C (p.Ile732Thr) c.1457T>C (p.Ile486Thr) c.2978T>C (p.Ile993Thr) c.3242T>C (p.Ile1081Thr) c.2129-423T>C (n.2129-423T>C) n.3315T>C n.3523T>C c.2732T>C (p.Ile911Thr) c.1757T>C (p.Ile586Thr) c.2471T>C (p.Ile824Thr) c.3449T>C (p.Ile1150Thr) n.3267T>C n.3475T>C | |
1 | g.197435177T>G | CA344047051 | CRB1 | c.3314T>G (p.Ile1105Ser) c.2195T>G (p.Ile732Ser) c.1457T>G (p.Ile486Ser) c.2978T>G (p.Ile993Ser) c.3242T>G (p.Ile1081Ser) c.2129-423T>G (n.2129-423T>G) n.3315T>G n.3523T>G c.2732T>G (p.Ile911Ser) c.1757T>G (p.Ile586Ser) c.2471T>G (p.Ile824Ser) c.3449T>G (p.Ile1150Ser) n.3267T>G n.3475T>G | |
1 | g.197435179_197435193dup | CA1218068827 | CRB1 | c.3316_3330dup (p.Phe1110_Glu1111insTyrLeuSerTyrPhe) c.2197_2211dup (p.Phe737_Glu738insTyrLeuSerTyrPhe) c.1459_1473dup (p.Phe491_Glu492insTyrLeuSerTyrPhe) c.2980_2994dup (p.Phe998_Glu999insTyrLeuSerTyrPhe) c.3244_3258dup (p.Phe1086_Glu1087insTyrLeuSerTyrPhe) c.2129-421_2129-407dup (n.2129-421_2129-407dup) n.3317_3331dup n.3525_3539dup c.2734_2748dup (p.Phe916_Glu917insTyrLeuSerTyrPhe) c.1759_1773dup (p.Phe591_Glu592insTyrLeuSerTyrPhe) c.2473_2487dup (p.Phe829_Glu830insTyrLeuSerTyrPhe) c.3451_3465dup (p.Phe1155_Glu1156insTyrLeuSerTyrPhe) n.3269_3283dup n.3477_3491dup | dbSNP |
1 | g.197435178T>A | CA422809152 | CRB1 | c.3315T>A (p.Ile1105=) c.2196T>A (p.Ile732=) c.1458T>A (p.Ile486=) c.2979T>A (p.Ile993=) c.3243T>A (p.Ile1081=) c.2129-422T>A (n.2129-422T>A) n.3316T>A n.3524T>A c.2733T>A (p.Ile911=) c.1758T>A (p.Ile586=) c.2472T>A (p.Ile824=) c.3450T>A (p.Ile1150=) n.3268T>A n.3476T>A | |
1 | g.197435178T>C | CA422809153 | CRB1 | c.3315T>C (p.Ile1105=) c.2196T>C (p.Ile732=) c.1458T>C (p.Ile486=) c.2979T>C (p.Ile993=) c.3243T>C (p.Ile1081=) c.2129-422T>C (n.2129-422T>C) n.3316T>C n.3524T>C c.2733T>C (p.Ile911=) c.1758T>C (p.Ile586=) c.2472T>C (p.Ile824=) c.3450T>C (p.Ile1150=) n.3268T>C n.3476T>C | |
1 | g.197435178T>G | CA344047052 | CRB1 | c.3315T>G (p.Ile1105Met) c.2196T>G (p.Ile732Met) c.1458T>G (p.Ile486Met) c.2979T>G (p.Ile993Met) c.3243T>G (p.Ile1081Met) c.2129-422T>G (n.2129-422T>G) n.3316T>G n.3524T>G c.2733T>G (p.Ile911Met) c.1758T>G (p.Ile586Met) c.2472T>G (p.Ile824Met) c.3450T>G (p.Ile1150Met) n.3268T>G n.3476T>G | |
1 | g.197435179T>A | CA344047055 | CRB1 | c.3316T>A (p.Tyr1106Asn) c.2197T>A (p.Tyr733Asn) c.1459T>A (p.Tyr487Asn) c.2980T>A (p.Tyr994Asn) c.3244T>A (p.Tyr1082Asn) c.2129-421T>A (n.2129-421T>A) n.3317T>A n.3525T>A c.2734T>A (p.Tyr912Asn) c.1759T>A (p.Tyr587Asn) c.2473T>A (p.Tyr825Asn) c.3451T>A (p.Tyr1151Asn) n.3269T>A n.3477T>A | |
1 | g.197435179T>C | CA344047054 | CRB1 | c.3316T>C (p.Tyr1106His) c.2197T>C (p.Tyr733His) c.1459T>C (p.Tyr487His) c.2980T>C (p.Tyr994His) c.3244T>C (p.Tyr1082His) c.2129-421T>C (n.2129-421T>C) n.3317T>C n.3525T>C c.2734T>C (p.Tyr912His) c.1759T>C (p.Tyr587His) c.2473T>C (p.Tyr825His) c.3451T>C (p.Tyr1151His) n.3269T>C n.3477T>C | |
1 | g.197435179T>G | CA344047053 | CRB1 | c.3316T>G (p.Tyr1106Asp) c.2197T>G (p.Tyr733Asp) c.1459T>G (p.Tyr487Asp) c.2980T>G (p.Tyr994Asp) c.3244T>G (p.Tyr1082Asp) c.2129-421T>G (n.2129-421T>G) n.3317T>G n.3525T>G c.2734T>G (p.Tyr912Asp) c.1759T>G (p.Tyr587Asp) c.2473T>G (p.Tyr825Asp) c.3451T>G (p.Tyr1151Asp) n.3269T>G n.3477T>G | |
1 | g.197435180A= | CA1141480371 | CRB1 | c.3317A= (p.Tyr1106=) c.2198A= (p.Tyr733=) c.1460A= (p.Tyr487=) c.2981A= (p.Tyr994=) c.3245A= (p.Tyr1082=) c.2129-420A= (n.2129-420A=) n.3318A= n.3526A= c.2735A= (p.Tyr912=) c.1760A= (p.Tyr587=) c.2474A= (p.Tyr825=) c.3452A= (p.Tyr1151=) n.3270A= n.3478A= | |
1 | g.197435180A>C | CA344047056 | CRB1 | c.3317A>C (p.Tyr1106Ser) c.2198A>C (p.Tyr733Ser) c.1460A>C (p.Tyr487Ser) c.2981A>C (p.Tyr994Ser) c.3245A>C (p.Tyr1082Ser) c.2129-420A>C (n.2129-420A>C) n.3318A>C n.3526A>C c.2735A>C (p.Tyr912Ser) c.1760A>C (p.Tyr587Ser) c.2474A>C (p.Tyr825Ser) c.3452A>C (p.Tyr1151Ser) n.3270A>C n.3478A>C | |
1 | g.197435180A>G | CA248281 | CRB1 | c.3317A>G (p.Tyr1106Cys) c.2198A>G (p.Tyr733Cys) c.1460A>G (p.Tyr487Cys) c.2981A>G (p.Tyr994Cys) c.3245A>G (p.Tyr1082Cys) c.2129-420A>G (n.2129-420A>G) n.3318A>G n.3526A>G c.2735A>G (p.Tyr912Cys) c.1760A>G (p.Tyr587Cys) c.2474A>G (p.Tyr825Cys) c.3452A>G (p.Tyr1151Cys) n.3270A>G n.3478A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197435180A>T | CA1312316 | CRB1 | c.3317A>T (p.Tyr1106Phe) c.2198A>T (p.Tyr733Phe) c.1460A>T (p.Tyr487Phe) c.2981A>T (p.Tyr994Phe) c.3245A>T (p.Tyr1082Phe) c.2129-420A>T (n.2129-420A>T) n.3318A>T n.3526A>T c.2735A>T (p.Tyr912Phe) c.1760A>T (p.Tyr587Phe) c.2474A>T (p.Tyr825Phe) c.3452A>T (p.Tyr1151Phe) n.3270A>T n.3478A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197435181T>A | CA344047057 | CRB1 | c.3318T>A (p.Tyr1106Ter) c.2199T>A (p.Tyr733Ter) c.1461T>A (p.Tyr487Ter) c.2982T>A (p.Tyr994Ter) c.3246T>A (p.Tyr1082Ter) c.2129-419T>A (n.2129-419T>A) n.3319T>A n.3527T>A c.2736T>A (p.Tyr912Ter) c.1761T>A (p.Tyr587Ter) c.2475T>A (p.Tyr825Ter) c.3453T>A (p.Tyr1151Ter) n.3271T>A n.3479T>A | |
1 | g.197435181T>C | CA1312317 | CRB1 | c.3318T>C (p.Tyr1106=) c.2199T>C (p.Tyr733=) c.1461T>C (p.Tyr487=) c.2982T>C (p.Tyr994=) c.3246T>C (p.Tyr1082=) c.2129-419T>C (n.2129-419T>C) n.3319T>C n.3527T>C c.2736T>C (p.Tyr912=) c.1761T>C (p.Tyr587=) c.2475T>C (p.Tyr825=) c.3453T>C (p.Tyr1151=) n.3271T>C n.3479T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197435181T>G | CA344047058 | CRB1 | c.3318T>G (p.Tyr1106Ter) c.2199T>G (p.Tyr733Ter) c.1461T>G (p.Tyr487Ter) c.2982T>G (p.Tyr994Ter) c.3246T>G (p.Tyr1082Ter) c.2129-419T>G (n.2129-419T>G) n.3319T>G n.3527T>G c.2736T>G (p.Tyr912Ter) c.1761T>G (p.Tyr587Ter) c.2475T>G (p.Tyr825Ter) c.3453T>G (p.Tyr1151Ter) n.3271T>G n.3479T>G | ClinVar |
1 | g.197435181T= | CA1142820985 | CRB1 | c.3318T= (p.Tyr1106=) c.2199T= (p.Tyr733=) c.1461T= (p.Tyr487=) c.2982T= (p.Tyr994=) c.3246T= (p.Tyr1082=) c.2129-419T= (n.2129-419T=) n.3319T= n.3527T= c.2736T= (p.Tyr912=) c.1761T= (p.Tyr587=) c.2475T= (p.Tyr825=) c.3453T= (p.Tyr1151=) n.3271T= n.3479T= | |
1 | g.197435184_197435187del | CA2649670644 | CRB1 | c.3321_3324del (p.Ser1108ThrfsTer?) c.2202_2205del (p.Ser735ThrfsTer?) c.1464_1467del (p.Ser489ThrfsTer?) c.2985_2988del (p.Ser996ThrfsTer?) c.3249_3252del (p.Ser1084ThrfsTer?) c.2129-416_2129-413del (n.2129-416_2129-413del) n.3322_3325del n.3530_3533del c.2739_2742del (p.Ser914ThrfsTer?) c.1764_1767del (p.Ser589ThrfsTer?) c.2478_2481del (p.Ser827ThrfsTer?) c.3456_3459del (p.Ser1153ThrfsTer?) n.3274_3277del n.3482_3485del | gnomAD v4 |
1 | g.197435182C>A | CA344047059 | CRB1 | c.3319C>A (p.Leu1107Ile) c.2200C>A (p.Leu734Ile) c.1462C>A (p.Leu488Ile) c.2983C>A (p.Leu995Ile) c.3247C>A (p.Leu1083Ile) c.2129-418C>A (n.2129-418C>A) n.3320C>A n.3528C>A c.2737C>A (p.Leu913Ile) c.1762C>A (p.Leu588Ile) c.2476C>A (p.Leu826Ile) c.3454C>A (p.Leu1152Ile) n.3272C>A n.3480C>A | |
1 | g.197435182C>G | CA344047061 | CRB1 | c.3319C>G (p.Leu1107Val) c.2200C>G (p.Leu734Val) c.1462C>G (p.Leu488Val) c.2983C>G (p.Leu995Val) c.3247C>G (p.Leu1083Val) c.2129-418C>G (n.2129-418C>G) n.3320C>G n.3528C>G c.2737C>G (p.Leu913Val) c.1762C>G (p.Leu588Val) c.2476C>G (p.Leu826Val) c.3454C>G (p.Leu1152Val) n.3272C>G n.3480C>G | |
1 | g.197435182C>T | CA344047060 | CRB1 | c.3319C>T (p.Leu1107Phe) c.2200C>T (p.Leu734Phe) c.1462C>T (p.Leu488Phe) c.2983C>T (p.Leu995Phe) c.3247C>T (p.Leu1083Phe) c.2129-418C>T (n.2129-418C>T) n.3320C>T n.3528C>T c.2737C>T (p.Leu913Phe) c.1762C>T (p.Leu588Phe) c.2476C>T (p.Leu826Phe) c.3454C>T (p.Leu1152Phe) n.3272C>T n.3480C>T | gnomAD v4 COSMIC COSMIC |
1 | g.197435183T>A | CA344047062 | CRB1 | c.3320T>A (p.Leu1107His) c.2201T>A (p.Leu734His) c.1463T>A (p.Leu488His) c.2984T>A (p.Leu995His) c.3248T>A (p.Leu1083His) c.2129-417T>A (n.2129-417T>A) n.3321T>A n.3529T>A c.2738T>A (p.Leu913His) c.1763T>A (p.Leu588His) c.2477T>A (p.Leu826His) c.3455T>A (p.Leu1152His) n.3273T>A n.3481T>A | |
1 | g.197435183T>C | CA228036 | CRB1 | c.3320T>C (p.Leu1107Pro) c.2201T>C (p.Leu734Pro) c.1463T>C (p.Leu488Pro) c.2984T>C (p.Leu995Pro) c.3248T>C (p.Leu1083Pro) c.2129-417T>C (n.2129-417T>C) n.3321T>C n.3529T>C c.2738T>C (p.Leu913Pro) c.1763T>C (p.Leu588Pro) c.2477T>C (p.Leu826Pro) c.3455T>C (p.Leu1152Pro) n.3273T>C n.3481T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197435183T>G | CA228037 | CRB1 | c.3320T>G (p.Leu1107Arg) c.2201T>G (p.Leu734Arg) c.1463T>G (p.Leu488Arg) c.2984T>G (p.Leu995Arg) c.3248T>G (p.Leu1083Arg) c.2129-417T>G (n.2129-417T>G) n.3321T>G n.3529T>G c.2738T>G (p.Leu913Arg) c.1763T>G (p.Leu588Arg) c.2477T>G (p.Leu826Arg) c.3455T>G (p.Leu1152Arg) n.3273T>G n.3481T>G | ClinVar dbSNP |
1 | g.197435183T= | CA1140762965 | CRB1 | c.3320T= (p.Leu1107=) c.2201T= (p.Leu734=) c.1463T= (p.Leu488=) c.2984T= (p.Leu995=) c.3248T= (p.Leu1083=) c.2129-417T= (n.2129-417T=) n.3321T= n.3529T= c.2738T= (p.Leu913=) c.1763T= (p.Leu588=) c.2477T= (p.Leu826=) c.3455T= (p.Leu1152=) n.3273T= n.3481T= | |
1 | g.197435184C>A | CA422809163 | CRB1 | c.3321C>A (p.Leu1107=) c.2202C>A (p.Leu734=) c.1464C>A (p.Leu488=) c.2985C>A (p.Leu995=) c.3249C>A (p.Leu1083=) c.2129-416C>A (n.2129-416C>A) n.3322C>A n.3530C>A c.2739C>A (p.Leu913=) c.1764C>A (p.Leu588=) c.2478C>A (p.Leu826=) c.3456C>A (p.Leu1152=) n.3274C>A n.3482C>A | |
1 | g.197435184C>G | CA422809164 | CRB1 | c.3321C>G (p.Leu1107=) c.2202C>G (p.Leu734=) c.1464C>G (p.Leu488=) c.2985C>G (p.Leu995=) c.3249C>G (p.Leu1083=) c.2129-416C>G (n.2129-416C>G) n.3322C>G n.3530C>G c.2739C>G (p.Leu913=) c.1764C>G (p.Leu588=) c.2478C>G (p.Leu826=) c.3456C>G (p.Leu1152=) n.3274C>G n.3482C>G | gnomAD v4 |
1 | g.197435184C>T | CA422809165 | CRB1 | c.3321C>T (p.Leu1107=) c.2202C>T (p.Leu734=) c.1464C>T (p.Leu488=) c.2985C>T (p.Leu995=) c.3249C>T (p.Leu1083=) c.2129-416C>T (n.2129-416C>T) n.3322C>T n.3530C>T c.2739C>T (p.Leu913=) c.1764C>T (p.Leu588=) c.2478C>T (p.Leu826=) c.3456C>T (p.Leu1152=) n.3274C>T n.3482C>T | |
1 | g.197435185T>A | CA344047065 | CRB1 | c.3322T>A (p.Ser1108Thr) c.2203T>A (p.Ser735Thr) c.1465T>A (p.Ser489Thr) c.2986T>A (p.Ser996Thr) c.3250T>A (p.Ser1084Thr) c.2129-415T>A (n.2129-415T>A) n.3323T>A n.3531T>A c.2740T>A (p.Ser914Thr) c.1765T>A (p.Ser589Thr) c.2479T>A (p.Ser827Thr) c.3457T>A (p.Ser1153Thr) n.3275T>A n.3483T>A | |
1 | g.197435185T>C | CA344047068 | CRB1 | c.3322T>C (p.Ser1108Pro) c.2203T>C (p.Ser735Pro) c.1465T>C (p.Ser489Pro) c.2986T>C (p.Ser996Pro) c.3250T>C (p.Ser1084Pro) c.2129-415T>C (n.2129-415T>C) n.3323T>C n.3531T>C c.2740T>C (p.Ser914Pro) c.1765T>C (p.Ser589Pro) c.2479T>C (p.Ser827Pro) c.3457T>C (p.Ser1153Pro) n.3275T>C n.3483T>C | |
1 | g.197435185T>G | CA344047067 | CRB1 | c.3322T>G (p.Ser1108Ala) c.2203T>G (p.Ser735Ala) c.1465T>G (p.Ser489Ala) c.2986T>G (p.Ser996Ala) c.3250T>G (p.Ser1084Ala) c.2129-415T>G (n.2129-415T>G) n.3323T>G n.3531T>G c.2740T>G (p.Ser914Ala) c.1765T>G (p.Ser589Ala) c.2479T>G (p.Ser827Ala) c.3457T>G (p.Ser1153Ala) n.3275T>G n.3483T>G | |
1 | g.197435186C>A | CA344047071 | CRB1 | c.3323C>A (p.Ser1108Tyr) c.2204C>A (p.Ser735Tyr) c.1466C>A (p.Ser489Tyr) c.2987C>A (p.Ser996Tyr) c.3251C>A (p.Ser1084Tyr) c.2129-414C>A (n.2129-414C>A) n.3324C>A n.3532C>A c.2741C>A (p.Ser914Tyr) c.1766C>A (p.Ser589Tyr) c.2480C>A (p.Ser827Tyr) c.3458C>A (p.Ser1153Tyr) n.3276C>A n.3484C>A | |
1 | g.197435186C>G | CA344047074 | CRB1 | c.3323C>G (p.Ser1108Cys) c.2204C>G (p.Ser735Cys) c.1466C>G (p.Ser489Cys) c.2987C>G (p.Ser996Cys) c.3251C>G (p.Ser1084Cys) c.2129-414C>G (n.2129-414C>G) n.3324C>G n.3532C>G c.2741C>G (p.Ser914Cys) c.1766C>G (p.Ser589Cys) c.2480C>G (p.Ser827Cys) c.3458C>G (p.Ser1153Cys) n.3276C>G n.3484C>G | |
1 | g.197435186C>T | CA344047073 | CRB1 | c.3323C>T (p.Ser1108Phe) c.2204C>T (p.Ser735Phe) c.1466C>T (p.Ser489Phe) c.2987C>T (p.Ser996Phe) c.3251C>T (p.Ser1084Phe) c.2129-414C>T (n.2129-414C>T) n.3324C>T n.3532C>T c.2741C>T (p.Ser914Phe) c.1766C>T (p.Ser589Phe) c.2480C>T (p.Ser827Phe) c.3458C>T (p.Ser1153Phe) n.3276C>T n.3484C>T | COSMIC COSMIC |
1 | g.197435187T>A | CA422809175 | CRB1 | c.3324T>A (p.Ser1108=) c.2205T>A (p.Ser735=) c.1467T>A (p.Ser489=) c.2988T>A (p.Ser996=) c.3252T>A (p.Ser1084=) c.2129-413T>A (n.2129-413T>A) n.3325T>A n.3533T>A c.2742T>A (p.Ser914=) c.1767T>A (p.Ser589=) c.2481T>A (p.Ser827=) c.3459T>A (p.Ser1153=) n.3277T>A n.3485T>A | |
1 | g.197435187T>C | CA422809174 | CRB1 | c.3324T>C (p.Ser1108=) c.2205T>C (p.Ser735=) c.1467T>C (p.Ser489=) c.2988T>C (p.Ser996=) c.3252T>C (p.Ser1084=) c.2129-413T>C (n.2129-413T>C) n.3325T>C n.3533T>C c.2742T>C (p.Ser914=) c.1767T>C (p.Ser589=) c.2481T>C (p.Ser827=) c.3459T>C (p.Ser1153=) n.3277T>C n.3485T>C | dbSNP |
1 | g.197435187T>G | CA422809173 | CRB1 | c.3324T>G (p.Ser1108=) c.2205T>G (p.Ser735=) c.1467T>G (p.Ser489=) c.2988T>G (p.Ser996=) c.3252T>G (p.Ser1084=) c.2129-413T>G (n.2129-413T>G) n.3325T>G n.3533T>G c.2742T>G (p.Ser914=) c.1767T>G (p.Ser589=) c.2481T>G (p.Ser827=) c.3459T>G (p.Ser1153=) n.3277T>G n.3485T>G | |
1 | g.197435187T= | CA1218068828 | CRB1 | c.3324T= (p.Ser1108=) c.2205T= (p.Ser735=) c.1467T= (p.Ser489=) c.2988T= (p.Ser996=) c.3252T= (p.Ser1084=) c.2129-413T= (n.2129-413T=) n.3325T= n.3533T= c.2742T= (p.Ser914=) c.1767T= (p.Ser589=) c.2481T= (p.Ser827=) c.3459T= (p.Ser1153=) n.3277T= n.3485T= | |
1 | g.197435188dup | CA2499214383 | CRB1 | c.3325dup (p.Tyr1109LeufsTer3) c.2206dup (p.Tyr736LeufsTer3) c.1468dup (p.Tyr490LeufsTer3) c.2989dup (p.Tyr997LeufsTer3) c.3253dup (p.Tyr1085LeufsTer3) c.2129-412dup (n.2129-412dup) n.3326dup n.3534dup c.2743dup (p.Tyr915LeufsTer3) c.1768dup (p.Tyr590LeufsTer3) c.2482dup (p.Tyr828LeufsTer3) c.3460dup (p.Tyr1154LeufsTer3) n.3278dup n.3486dup | ClinVar dbSNP |
1 | g.197435188T>A | CA344047075 | CRB1 | c.3325T>A (p.Tyr1109Asn) c.2206T>A (p.Tyr736Asn) c.1468T>A (p.Tyr490Asn) c.2989T>A (p.Tyr997Asn) c.3253T>A (p.Tyr1085Asn) c.2129-412T>A (n.2129-412T>A) n.3326T>A n.3534T>A c.2743T>A (p.Tyr915Asn) c.1768T>A (p.Tyr590Asn) c.2482T>A (p.Tyr828Asn) c.3460T>A (p.Tyr1154Asn) n.3278T>A n.3486T>A | |
1 | g.197435188T>C | CA344047076 | CRB1 | c.3325T>C (p.Tyr1109His) c.2206T>C (p.Tyr736His) c.1468T>C (p.Tyr490His) c.2989T>C (p.Tyr997His) c.3253T>C (p.Tyr1085His) c.2129-412T>C (n.2129-412T>C) n.3326T>C n.3534T>C c.2743T>C (p.Tyr915His) c.1768T>C (p.Tyr590His) c.2482T>C (p.Tyr828His) c.3460T>C (p.Tyr1154His) n.3278T>C n.3486T>C | gnomAD v4 |
1 | g.197435188T>G | CA344047077 | CRB1 | c.3325T>G (p.Tyr1109Asp) c.2206T>G (p.Tyr736Asp) c.1468T>G (p.Tyr490Asp) c.2989T>G (p.Tyr997Asp) c.3253T>G (p.Tyr1085Asp) c.2129-412T>G (n.2129-412T>G) n.3326T>G n.3534T>G c.2743T>G (p.Tyr915Asp) c.1768T>G (p.Tyr590Asp) c.2482T>G (p.Tyr828Asp) c.3460T>G (p.Tyr1154Asp) n.3278T>G n.3486T>G | |
1 | g.197435188_197435189del | CA2573131450 | CRB1 | c.3325_3326del (p.Tyr1109LeufsTer2) c.2206_2207del (p.Tyr736LeufsTer2) c.1468_1469del (p.Tyr490LeufsTer2) c.2989_2990del (p.Tyr997LeufsTer2) c.3253_3254del (p.Tyr1085LeufsTer2) c.2129-412_2129-411del (n.2129-412_2129-411del) n.3326_3327del n.3534_3535del c.2743_2744del (p.Tyr915LeufsTer2) c.1768_1769del (p.Tyr590LeufsTer2) c.2482_2483del (p.Tyr828LeufsTer2) c.3460_3461del (p.Tyr1154LeufsTer2) n.3278_3279del n.3486_3487del | ClinVar dbSNP |
1 | g.197435189A>C | CA344047079 | CRB1 | c.3326A>C (p.Tyr1109Ser) c.2207A>C (p.Tyr736Ser) c.1469A>C (p.Tyr490Ser) c.2990A>C (p.Tyr997Ser) c.3254A>C (p.Tyr1085Ser) c.2129-411A>C (n.2129-411A>C) n.3327A>C n.3535A>C c.2744A>C (p.Tyr915Ser) c.1769A>C (p.Tyr590Ser) c.2483A>C (p.Tyr828Ser) c.3461A>C (p.Tyr1154Ser) n.3279A>C n.3487A>C | |
1 | g.197435189A>G | CA344047080 | CRB1 | c.3326A>G (p.Tyr1109Cys) c.2207A>G (p.Tyr736Cys) c.1469A>G (p.Tyr490Cys) c.2990A>G (p.Tyr997Cys) c.3254A>G (p.Tyr1085Cys) c.2129-411A>G (n.2129-411A>G) n.3327A>G n.3535A>G c.2744A>G (p.Tyr915Cys) c.1769A>G (p.Tyr590Cys) c.2483A>G (p.Tyr828Cys) c.3461A>G (p.Tyr1154Cys) n.3279A>G n.3487A>G | |
1 | g.197435189A>T | CA344047082 | CRB1 | c.3326A>T (p.Tyr1109Phe) c.2207A>T (p.Tyr736Phe) c.1469A>T (p.Tyr490Phe) c.2990A>T (p.Tyr997Phe) c.3254A>T (p.Tyr1085Phe) c.2129-411A>T (n.2129-411A>T) n.3327A>T n.3535A>T c.2744A>T (p.Tyr915Phe) c.1769A>T (p.Tyr590Phe) c.2483A>T (p.Tyr828Phe) c.3461A>T (p.Tyr1154Phe) n.3279A>T n.3487A>T | |
1 | g.197435190C>A | CA344047084 | CRB1 | c.3327C>A (p.Tyr1109Ter) c.2208C>A (p.Tyr736Ter) c.1470C>A (p.Tyr490Ter) c.2991C>A (p.Tyr997Ter) c.3255C>A (p.Tyr1085Ter) c.2129-410C>A (n.2129-410C>A) n.3328C>A n.3536C>A c.2745C>A (p.Tyr915Ter) c.1770C>A (p.Tyr590Ter) c.2484C>A (p.Tyr828Ter) c.3462C>A (p.Tyr1154Ter) n.3280C>A n.3488C>A | |
1 | g.197435190C>G | CA344047086 | CRB1 | c.3327C>G (p.Tyr1109Ter) c.2208C>G (p.Tyr736Ter) c.1470C>G (p.Tyr490Ter) c.2991C>G (p.Tyr997Ter) c.3255C>G (p.Tyr1085Ter) c.2129-410C>G (n.2129-410C>G) n.3328C>G n.3536C>G c.2745C>G (p.Tyr915Ter) c.1770C>G (p.Tyr590Ter) c.2484C>G (p.Tyr828Ter) c.3462C>G (p.Tyr1154Ter) n.3280C>G n.3488C>G | |
1 | g.197435190C>T | CA422809181 | CRB1 | c.3327C>T (p.Tyr1109=) c.2208C>T (p.Tyr736=) c.1470C>T (p.Tyr490=) c.2991C>T (p.Tyr997=) c.3255C>T (p.Tyr1085=) c.2129-410C>T (n.2129-410C>T) n.3328C>T n.3536C>T c.2745C>T (p.Tyr915=) c.1770C>T (p.Tyr590=) c.2484C>T (p.Tyr828=) c.3462C>T (p.Tyr1154=) n.3280C>T n.3488C>T | ClinVar |
1 | g.197435191T>A | CA344047089 | CRB1 | c.3328T>A (p.Phe1110Ile) c.2209T>A (p.Phe737Ile) c.1471T>A (p.Phe491Ile) c.2992T>A (p.Phe998Ile) c.3256T>A (p.Phe1086Ile) c.2129-409T>A (n.2129-409T>A) n.3329T>A n.3537T>A c.2746T>A (p.Phe916Ile) c.1771T>A (p.Phe591Ile) c.2485T>A (p.Phe829Ile) c.3463T>A (p.Phe1155Ile) n.3281T>A n.3489T>A | |
1 | g.197435191T>C | CA344047091 | CRB1 | c.3328T>C (p.Phe1110Leu) c.2209T>C (p.Phe737Leu) c.1471T>C (p.Phe491Leu) c.2992T>C (p.Phe998Leu) c.3256T>C (p.Phe1086Leu) c.2129-409T>C (n.2129-409T>C) n.3329T>C n.3537T>C c.2746T>C (p.Phe916Leu) c.1771T>C (p.Phe591Leu) c.2485T>C (p.Phe829Leu) c.3463T>C (p.Phe1155Leu) n.3281T>C n.3489T>C | |
1 | g.197435191T>G | CA344047093 | CRB1 | c.3328T>G (p.Phe1110Val) c.2209T>G (p.Phe737Val) c.1471T>G (p.Phe491Val) c.2992T>G (p.Phe998Val) c.3256T>G (p.Phe1086Val) c.2129-409T>G (n.2129-409T>G) n.3329T>G n.3537T>G c.2746T>G (p.Phe916Val) c.1771T>G (p.Phe591Val) c.2485T>G (p.Phe829Val) c.3463T>G (p.Phe1155Val) n.3281T>G n.3489T>G | |
1 | g.197435192T>A | CA344047107 | CRB1 | c.3329T>A (p.Phe1110Tyr) c.2210T>A (p.Phe737Tyr) c.1472T>A (p.Phe491Tyr) c.2993T>A (p.Phe998Tyr) c.3257T>A (p.Phe1086Tyr) c.2129-408T>A (n.2129-408T>A) n.3330T>A n.3538T>A c.2747T>A (p.Phe916Tyr) c.1772T>A (p.Phe591Tyr) c.2486T>A (p.Phe829Tyr) c.3464T>A (p.Phe1155Tyr) n.3282T>A n.3490T>A | |
1 | g.197435192T>C | CA344047102 | CRB1 | c.3329T>C (p.Phe1110Ser) c.2210T>C (p.Phe737Ser) c.1472T>C (p.Phe491Ser) c.2993T>C (p.Phe998Ser) c.3257T>C (p.Phe1086Ser) c.2129-408T>C (n.2129-408T>C) n.3330T>C n.3538T>C c.2747T>C (p.Phe916Ser) c.1772T>C (p.Phe591Ser) c.2486T>C (p.Phe829Ser) c.3464T>C (p.Phe1155Ser) n.3282T>C n.3490T>C | |
1 | g.197435192T>G | CA344047105 | CRB1 | c.3329T>G (p.Phe1110Cys) c.2210T>G (p.Phe737Cys) c.1472T>G (p.Phe491Cys) c.2993T>G (p.Phe998Cys) c.3257T>G (p.Phe1086Cys) c.2129-408T>G (n.2129-408T>G) n.3330T>G n.3538T>G c.2747T>G (p.Phe916Cys) c.1772T>G (p.Phe591Cys) c.2486T>G (p.Phe829Cys) c.3464T>G (p.Phe1155Cys) n.3282T>G n.3490T>G | ClinVar dbSNP gnomAD v4 |
1 | g.197435192T= | CA1218068829 | CRB1 | c.3329T= (p.Phe1110=) c.2210T= (p.Phe737=) c.1472T= (p.Phe491=) c.2993T= (p.Phe998=) c.3257T= (p.Phe1086=) c.2129-408T= (n.2129-408T=) n.3330T= n.3538T= c.2747T= (p.Phe916=) c.1772T= (p.Phe591=) c.2486T= (p.Phe829=) c.3464T= (p.Phe1155=) n.3282T= n.3490T= | |
1 | g.197435193T>A | CA344047110 | CRB1 | c.3330T>A (p.Phe1110Leu) c.2211T>A (p.Phe737Leu) c.1473T>A (p.Phe491Leu) c.2994T>A (p.Phe998Leu) c.3258T>A (p.Phe1086Leu) c.2129-407T>A (n.2129-407T>A) n.3331T>A n.3539T>A c.2748T>A (p.Phe916Leu) c.1773T>A (p.Phe591Leu) c.2487T>A (p.Phe829Leu) c.3465T>A (p.Phe1155Leu) n.3283T>A n.3491T>A | |
1 | g.197435193T>C | CA422809183 | CRB1 | c.3330T>C (p.Phe1110=) c.2211T>C (p.Phe737=) c.1473T>C (p.Phe491=) c.2994T>C (p.Phe998=) c.3258T>C (p.Phe1086=) c.2129-407T>C (n.2129-407T>C) n.3331T>C n.3539T>C c.2748T>C (p.Phe916=) c.1773T>C (p.Phe591=) c.2487T>C (p.Phe829=) c.3465T>C (p.Phe1155=) n.3283T>C n.3491T>C | |
1 | g.197435193T>G | CA344047112 | CRB1 | c.3330T>G (p.Phe1110Leu) c.2211T>G (p.Phe737Leu) c.1473T>G (p.Phe491Leu) c.2994T>G (p.Phe998Leu) c.3258T>G (p.Phe1086Leu) c.2129-407T>G (n.2129-407T>G) n.3331T>G n.3539T>G c.2748T>G (p.Phe916Leu) c.1773T>G (p.Phe591Leu) c.2487T>G (p.Phe829Leu) c.3465T>G (p.Phe1155Leu) n.3283T>G n.3491T>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197435193T= | CA1218068830 | CRB1 | c.3330T= (p.Phe1110=) c.2211T= (p.Phe737=) c.1473T= (p.Phe491=) c.2994T= (p.Phe998=) c.3258T= (p.Phe1086=) c.2129-407T= (n.2129-407T=) n.3331T= n.3539T= c.2748T= (p.Phe916=) c.1773T= (p.Phe591=) c.2487T= (p.Phe829=) c.3465T= (p.Phe1155=) n.3283T= n.3491T= | |
1 | g.197435194G>A | CA344047115 | CRB1 | c.3331G>A (p.Glu1111Lys) c.2212G>A (p.Glu738Lys) c.1474G>A (p.Glu492Lys) c.2995G>A (p.Glu999Lys) c.3259G>A (p.Glu1087Lys) c.2129-406G>A (n.2129-406G>A) n.3332G>A n.3540G>A c.2749G>A (p.Glu917Lys) c.1774G>A (p.Glu592Lys) c.2488G>A (p.Glu830Lys) c.3466G>A (p.Glu1156Lys) n.3284G>A n.3492G>A | |
1 | g.197435194G>C | CA344047117 | CRB1 | c.3331G>C (p.Glu1111Gln) c.2212G>C (p.Glu738Gln) c.1474G>C (p.Glu492Gln) c.2995G>C (p.Glu999Gln) c.3259G>C (p.Glu1087Gln) c.2129-406G>C (n.2129-406G>C) n.3332G>C n.3540G>C c.2749G>C (p.Glu917Gln) c.1774G>C (p.Glu592Gln) c.2488G>C (p.Glu830Gln) c.3466G>C (p.Glu1156Gln) n.3284G>C n.3492G>C | |
1 | g.197435194G= | CA1140762966 | CRB1 | c.3331G= (p.Glu1111=) c.2212G= (p.Glu738=) c.1474G= (p.Glu492=) c.2995G= (p.Glu999=) c.3259G= (p.Glu1087=) c.2129-406G= (n.2129-406G=) n.3332G= n.3540G= c.2749G= (p.Glu917=) c.1774G= (p.Glu592=) c.2488G= (p.Glu830=) c.3466G= (p.Glu1156=) n.3284G= n.3492G= | |
1 | g.197435194G>T | CA228038 | CRB1 | c.3331G>T (p.Glu1111Ter) c.2212G>T (p.Glu738Ter) c.1474G>T (p.Glu492Ter) c.2995G>T (p.Glu999Ter) c.3259G>T (p.Glu1087Ter) c.2129-406G>T (n.2129-406G>T) n.3332G>T n.3540G>T c.2749G>T (p.Glu917Ter) c.1774G>T (p.Glu592Ter) c.2488G>T (p.Glu830Ter) c.3466G>T (p.Glu1156Ter) n.3284G>T n.3492G>T | ClinVar dbSNP |
1 | g.197435195A>C | CA344047125 | CRB1 | c.3332A>C (p.Glu1111Ala) c.2213A>C (p.Glu738Ala) c.1475A>C (p.Glu492Ala) c.2996A>C (p.Glu999Ala) c.3260A>C (p.Glu1087Ala) c.2129-405A>C (n.2129-405A>C) n.3333A>C n.3541A>C c.2750A>C (p.Glu917Ala) c.1775A>C (p.Glu592Ala) c.2489A>C (p.Glu830Ala) c.3467A>C (p.Glu1156Ala) n.3285A>C n.3493A>C | |
1 | g.197435195A>G | CA344047127 | CRB1 | c.3332A>G (p.Glu1111Gly) c.2213A>G (p.Glu738Gly) c.1475A>G (p.Glu492Gly) c.2996A>G (p.Glu999Gly) c.3260A>G (p.Glu1087Gly) c.2129-405A>G (n.2129-405A>G) n.3333A>G n.3541A>G c.2750A>G (p.Glu917Gly) c.1775A>G (p.Glu592Gly) c.2489A>G (p.Glu830Gly) c.3467A>G (p.Glu1156Gly) n.3285A>G n.3493A>G | |
1 | g.197435195A>T | CA344047129 | CRB1 | c.3332A>T (p.Glu1111Val) c.2213A>T (p.Glu738Val) c.1475A>T (p.Glu492Val) c.2996A>T (p.Glu999Val) c.3260A>T (p.Glu1087Val) c.2129-405A>T (n.2129-405A>T) n.3333A>T n.3541A>T c.2750A>T (p.Glu917Val) c.1775A>T (p.Glu592Val) c.2489A>T (p.Glu830Val) c.3467A>T (p.Glu1156Val) n.3285A>T n.3493A>T | |
1 | g.197435196A>C | CA344047130 | CRB1 | c.3333A>C (p.Glu1111Asp) c.2214A>C (p.Glu738Asp) c.1476A>C (p.Glu492Asp) c.2997A>C (p.Glu999Asp) c.3261A>C (p.Glu1087Asp) c.2129-404A>C (n.2129-404A>C) n.3334A>C n.3542A>C c.2751A>C (p.Glu917Asp) c.1776A>C (p.Glu592Asp) c.2490A>C (p.Glu830Asp) c.3468A>C (p.Glu1156Asp) n.3286A>C n.3494A>C | COSMIC COSMIC |
1 | g.197435196A>G | CA422809191 | CRB1 | c.3333A>G (p.Glu1111=) c.2214A>G (p.Glu738=) c.1476A>G (p.Glu492=) c.2997A>G (p.Glu999=) c.3261A>G (p.Glu1087=) c.2129-404A>G (n.2129-404A>G) n.3334A>G n.3542A>G c.2751A>G (p.Glu917=) c.1776A>G (p.Glu592=) c.2490A>G (p.Glu830=) c.3468A>G (p.Glu1156=) n.3286A>G n.3494A>G | |
1 | g.197435196A>T | CA344047132 | CRB1 | c.3333A>T (p.Glu1111Asp) c.2214A>T (p.Glu738Asp) c.1476A>T (p.Glu492Asp) c.2997A>T (p.Glu999Asp) c.3261A>T (p.Glu1087Asp) c.2129-404A>T (n.2129-404A>T) n.3334A>T n.3542A>T c.2751A>T (p.Glu917Asp) c.1776A>T (p.Glu592Asp) c.2490A>T (p.Glu830Asp) c.3468A>T (p.Glu1156Asp) n.3286A>T n.3494A>T | |
1 | g.197435197A>C | CA344047139 | CRB1 | c.3334A>C (p.Asn1112His) c.2215A>C (p.Asn739His) c.1477A>C (p.Asn493His) c.2998A>C (p.Asn1000His) c.3262A>C (p.Asn1088His) c.2129-403A>C (n.2129-403A>C) n.3335A>C n.3543A>C c.2752A>C (p.Asn918His) c.1777A>C (p.Asn593His) c.2491A>C (p.Asn831His) c.3469A>C (p.Asn1157His) n.3287A>C n.3495A>C | |
1 | g.197435197A>G | CA344047137 | CRB1 | c.3334A>G (p.Asn1112Asp) c.2215A>G (p.Asn739Asp) c.1477A>G (p.Asn493Asp) c.2998A>G (p.Asn1000Asp) c.3262A>G (p.Asn1088Asp) c.2129-403A>G (n.2129-403A>G) n.3335A>G n.3543A>G c.2752A>G (p.Asn918Asp) c.1777A>G (p.Asn593Asp) c.2491A>G (p.Asn831Asp) c.3469A>G (p.Asn1157Asp) n.3287A>G n.3495A>G | |
1 | g.197435197A>T | CA344047135 | CRB1 | c.3334A>T (p.Asn1112Tyr) c.2215A>T (p.Asn739Tyr) c.1477A>T (p.Asn493Tyr) c.2998A>T (p.Asn1000Tyr) c.3262A>T (p.Asn1088Tyr) c.2129-403A>T (n.2129-403A>T) n.3335A>T n.3543A>T c.2752A>T (p.Asn918Tyr) c.1777A>T (p.Asn593Tyr) c.2491A>T (p.Asn831Tyr) c.3469A>T (p.Asn1157Tyr) n.3287A>T n.3495A>T | |
1 | g.197435198A>C | CA344047141 | CRB1 | c.3335A>C (p.Asn1112Thr) c.2216A>C (p.Asn739Thr) c.1478A>C (p.Asn493Thr) c.2999A>C (p.Asn1000Thr) c.3263A>C (p.Asn1088Thr) c.2129-402A>C (n.2129-402A>C) n.3336A>C n.3544A>C c.2753A>C (p.Asn918Thr) c.1778A>C (p.Asn593Thr) c.2492A>C (p.Asn831Thr) c.3470A>C (p.Asn1157Thr) n.3288A>C n.3496A>C | |
1 | g.197435198A>G | CA344047150 | CRB1 | c.3335A>G (p.Asn1112Ser) c.2216A>G (p.Asn739Ser) c.1478A>G (p.Asn493Ser) c.2999A>G (p.Asn1000Ser) c.3263A>G (p.Asn1088Ser) c.2129-402A>G (n.2129-402A>G) n.3336A>G n.3544A>G c.2753A>G (p.Asn918Ser) c.1778A>G (p.Asn593Ser) c.2492A>G (p.Asn831Ser) c.3470A>G (p.Asn1157Ser) n.3288A>G n.3496A>G | |
1 | g.197435198A>T | CA344047152 | CRB1 | c.3335A>T (p.Asn1112Ile) c.2216A>T (p.Asn739Ile) c.1478A>T (p.Asn493Ile) c.2999A>T (p.Asn1000Ile) c.3263A>T (p.Asn1088Ile) c.2129-402A>T (n.2129-402A>T) n.3336A>T n.3544A>T c.2753A>T (p.Asn918Ile) c.1778A>T (p.Asn593Ile) c.2492A>T (p.Asn831Ile) c.3470A>T (p.Asn1157Ile) n.3288A>T n.3496A>T | |
1 | g.197435199T>A | CA344047162 | CRB1 | c.3336T>A (p.Asn1112Lys) c.2217T>A (p.Asn739Lys) c.1479T>A (p.Asn493Lys) c.3000T>A (p.Asn1000Lys) c.3264T>A (p.Asn1088Lys) c.2129-401T>A (n.2129-401T>A) n.3337T>A n.3545T>A c.2754T>A (p.Asn918Lys) c.1779T>A (p.Asn593Lys) c.2493T>A (p.Asn831Lys) c.3471T>A (p.Asn1157Lys) n.3289T>A n.3497T>A | |
1 | g.197435199T>C | CA422809200 | CRB1 | c.3336T>C (p.Asn1112=) c.2217T>C (p.Asn739=) c.1479T>C (p.Asn493=) c.3000T>C (p.Asn1000=) c.3264T>C (p.Asn1088=) c.2129-401T>C (n.2129-401T>C) n.3337T>C n.3545T>C c.2754T>C (p.Asn918=) c.1779T>C (p.Asn593=) c.2493T>C (p.Asn831=) c.3471T>C (p.Asn1157=) n.3289T>C n.3497T>C | |
1 | g.197435199T>G | CA344047163 | CRB1 | c.3336T>G (p.Asn1112Lys) c.2217T>G (p.Asn739Lys) c.1479T>G (p.Asn493Lys) c.3000T>G (p.Asn1000Lys) c.3264T>G (p.Asn1088Lys) c.2129-401T>G (n.2129-401T>G) n.3337T>G n.3545T>G c.2754T>G (p.Asn918Lys) c.1779T>G (p.Asn593Lys) c.2493T>G (p.Asn831Lys) c.3471T>G (p.Asn1157Lys) n.3289T>G n.3497T>G | |
1 | g.197435200G>A | CA344047167 | CRB1 | c.3337G>A (p.Val1113Ile) c.2218G>A (p.Val740Ile) c.1480G>A (p.Val494Ile) c.3001G>A (p.Val1001Ile) c.3265G>A (p.Val1089Ile) c.2129-400G>A (n.2129-400G>A) n.3338G>A n.3546G>A c.2755G>A (p.Val919Ile) c.1780G>A (p.Val594Ile) c.2494G>A (p.Val832Ile) c.3472G>A (p.Val1158Ile) n.3290G>A n.3498G>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197435200G>C | CA344047169 | CRB1 | c.3337G>C (p.Val1113Leu) c.2218G>C (p.Val740Leu) c.1480G>C (p.Val494Leu) c.3001G>C (p.Val1001Leu) c.3265G>C (p.Val1089Leu) c.2129-400G>C (n.2129-400G>C) n.3338G>C n.3546G>C c.2755G>C (p.Val919Leu) c.1780G>C (p.Val594Leu) c.2494G>C (p.Val832Leu) c.3472G>C (p.Val1158Leu) n.3290G>C n.3498G>C | |
1 | g.197435200G= | CA1218068831 | CRB1 | c.3337G= (p.Val1113=) c.2218G= (p.Val740=) c.1480G= (p.Val494=) c.3001G= (p.Val1001=) c.3265G= (p.Val1089=) c.2129-400G= (n.2129-400G=) n.3338G= n.3546G= c.2755G= (p.Val919=) c.1780G= (p.Val594=) c.2494G= (p.Val832=) c.3472G= (p.Val1158=) n.3290G= n.3498G= | |
1 | g.197435200G>T | CA344047170 | CRB1 | c.3337G>T (p.Val1113Phe) c.2218G>T (p.Val740Phe) c.1480G>T (p.Val494Phe) c.3001G>T (p.Val1001Phe) c.3265G>T (p.Val1089Phe) c.2129-400G>T (n.2129-400G>T) n.3338G>T n.3546G>T c.2755G>T (p.Val919Phe) c.1780G>T (p.Val594Phe) c.2494G>T (p.Val832Phe) c.3472G>T (p.Val1158Phe) n.3290G>T n.3498G>T | |
1 | g.197435201T>A | CA344047172 | CRB1 | c.3338T>A (p.Val1113Asp) c.2219T>A (p.Val740Asp) c.1481T>A (p.Val494Asp) c.3002T>A (p.Val1001Asp) c.3266T>A (p.Val1089Asp) c.2129-399T>A (n.2129-399T>A) n.3339T>A n.3547T>A c.2756T>A (p.Val919Asp) c.1781T>A (p.Val594Asp) c.2495T>A (p.Val832Asp) c.3473T>A (p.Val1158Asp) n.3291T>A n.3499T>A | |
1 | g.197435201T>C | CA344047174 | CRB1 | c.3338T>C (p.Val1113Ala) c.2219T>C (p.Val740Ala) c.1481T>C (p.Val494Ala) c.3002T>C (p.Val1001Ala) c.3266T>C (p.Val1089Ala) c.2129-399T>C (n.2129-399T>C) n.3339T>C n.3547T>C c.2756T>C (p.Val919Ala) c.1781T>C (p.Val594Ala) c.2495T>C (p.Val832Ala) c.3473T>C (p.Val1158Ala) n.3291T>C n.3499T>C | |
1 | g.197435201T>G | CA344047176 | CRB1 | c.3338T>G (p.Val1113Gly) c.2219T>G (p.Val740Gly) c.1481T>G (p.Val494Gly) c.3002T>G (p.Val1001Gly) c.3266T>G (p.Val1089Gly) c.2129-399T>G (n.2129-399T>G) n.3339T>G n.3547T>G c.2756T>G (p.Val919Gly) c.1781T>G (p.Val594Gly) c.2495T>G (p.Val832Gly) c.3473T>G (p.Val1158Gly) n.3291T>G n.3499T>G |