Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.197435069G>A | CA344046593 | CRB1 | c.3206G>A (p.Gly1069Glu) c.2087G>A (p.Gly696Glu) c.1349G>A (p.Gly450Glu) c.2870G>A (p.Gly957Glu) c.3134G>A (p.Gly1045Glu) c.2129-531G>A (n.2129-531G>A) n.3207G>A n.3415G>A c.2624G>A (p.Gly875Glu) c.1649G>A (p.Gly550Glu) c.2363G>A (p.Gly788Glu) c.3341G>A (p.Gly1114Glu) n.3159G>A n.3367G>A | gnomAD v4 |
1 | g.197435069G>C | CA344046595 | CRB1 | c.3206G>C (p.Gly1069Ala) c.2087G>C (p.Gly696Ala) c.1349G>C (p.Gly450Ala) c.2870G>C (p.Gly957Ala) c.3134G>C (p.Gly1045Ala) c.2129-531G>C (n.2129-531G>C) n.3207G>C n.3415G>C c.2624G>C (p.Gly875Ala) c.1649G>C (p.Gly550Ala) c.2363G>C (p.Gly788Ala) c.3341G>C (p.Gly1114Ala) n.3159G>C n.3367G>C | |
1 | g.197435069G>T | CA344046591 | CRB1 | c.3206G>T (p.Gly1069Val) c.2087G>T (p.Gly696Val) c.1349G>T (p.Gly450Val) c.2870G>T (p.Gly957Val) c.3134G>T (p.Gly1045Val) c.2129-531G>T (n.2129-531G>T) n.3207G>T n.3415G>T c.2624G>T (p.Gly875Val) c.1649G>T (p.Gly550Val) c.2363G>T (p.Gly788Val) c.3341G>T (p.Gly1114Val) n.3159G>T n.3367G>T | |
1 | g.197435070A>C | CA422809215 | CRB1 | c.3207A>C (p.Gly1069=) c.2088A>C (p.Gly696=) c.1350A>C (p.Gly450=) c.2871A>C (p.Gly957=) c.3135A>C (p.Gly1045=) c.2129-530A>C (n.2129-530A>C) n.3208A>C n.3416A>C c.2625A>C (p.Gly875=) c.1650A>C (p.Gly550=) c.2364A>C (p.Gly788=) c.3342A>C (p.Gly1114=) n.3160A>C n.3368A>C | |
1 | g.197435070A>G | CA422809214 | CRB1 | c.3207A>G (p.Gly1069=) c.2088A>G (p.Gly696=) c.1350A>G (p.Gly450=) c.2871A>G (p.Gly957=) c.3135A>G (p.Gly1045=) c.2129-530A>G (n.2129-530A>G) n.3208A>G n.3416A>G c.2625A>G (p.Gly875=) c.1650A>G (p.Gly550=) c.2364A>G (p.Gly788=) c.3342A>G (p.Gly1114=) n.3160A>G n.3368A>G | |
1 | g.197435070A>T | CA422809213 | CRB1 | c.3207A>T (p.Gly1069=) c.2088A>T (p.Gly696=) c.1350A>T (p.Gly450=) c.2871A>T (p.Gly957=) c.3135A>T (p.Gly1045=) c.2129-530A>T (n.2129-530A>T) n.3208A>T n.3416A>T c.2625A>T (p.Gly875=) c.1650A>T (p.Gly550=) c.2364A>T (p.Gly788=) c.3342A>T (p.Gly1114=) n.3160A>T n.3368A>T | |
1 | g.197435071A>C | CA344046598 | CRB1 | c.3208A>C (p.Ser1070Arg) c.2089A>C (p.Ser697Arg) c.1351A>C (p.Ser451Arg) c.2872A>C (p.Ser958Arg) c.3136A>C (p.Ser1046Arg) c.2129-529A>C (n.2129-529A>C) n.3209A>C n.3417A>C c.2626A>C (p.Ser876Arg) c.1651A>C (p.Ser551Arg) c.2365A>C (p.Ser789Arg) c.3343A>C (p.Ser1115Arg) n.3161A>C n.3369A>C | |
1 | g.197435071A>G | CA344046600 | CRB1 | c.3208A>G (p.Ser1070Gly) c.2089A>G (p.Ser697Gly) c.1351A>G (p.Ser451Gly) c.2872A>G (p.Ser958Gly) c.3136A>G (p.Ser1046Gly) c.2129-529A>G (n.2129-529A>G) n.3209A>G n.3417A>G c.2626A>G (p.Ser876Gly) c.1651A>G (p.Ser551Gly) c.2365A>G (p.Ser789Gly) c.3343A>G (p.Ser1115Gly) n.3161A>G n.3369A>G | |
1 | g.197435071A>T | CA344046602 | CRB1 | c.3208A>T (p.Ser1070Cys) c.2089A>T (p.Ser697Cys) c.1351A>T (p.Ser451Cys) c.2872A>T (p.Ser958Cys) c.3136A>T (p.Ser1046Cys) c.2129-529A>T (n.2129-529A>T) n.3209A>T n.3417A>T c.2626A>T (p.Ser876Cys) c.1651A>T (p.Ser551Cys) c.2365A>T (p.Ser789Cys) c.3343A>T (p.Ser1115Cys) n.3161A>T n.3369A>T | |
1 | g.197435072G>A | CA344046605 | CRB1 | c.3209G>A (p.Ser1070Asn) c.2090G>A (p.Ser697Asn) c.1352G>A (p.Ser451Asn) c.2873G>A (p.Ser958Asn) c.3137G>A (p.Ser1046Asn) c.2129-528G>A (n.2129-528G>A) n.3210G>A n.3418G>A c.2627G>A (p.Ser876Asn) c.1652G>A (p.Ser551Asn) c.2366G>A (p.Ser789Asn) c.3344G>A (p.Ser1115Asn) n.3162G>A n.3370G>A | |
1 | g.197435072G>C | CA344046607 | CRB1 | c.3209G>C (p.Ser1070Thr) c.2090G>C (p.Ser697Thr) c.1352G>C (p.Ser451Thr) c.2873G>C (p.Ser958Thr) c.3137G>C (p.Ser1046Thr) c.2129-528G>C (n.2129-528G>C) n.3210G>C n.3418G>C c.2627G>C (p.Ser876Thr) c.1652G>C (p.Ser551Thr) c.2366G>C (p.Ser789Thr) c.3344G>C (p.Ser1115Thr) n.3162G>C n.3370G>C | gnomAD v4 |
1 | g.197435072G= | CA1218068779 | CRB1 | c.3209G= (p.Ser1070=) c.2090G= (p.Ser697=) c.1352G= (p.Ser451=) c.2873G= (p.Ser958=) c.3137G= (p.Ser1046=) c.2129-528G= (n.2129-528G=) n.3210G= n.3418G= c.2627G= (p.Ser876=) c.1652G= (p.Ser551=) c.2366G= (p.Ser789=) c.3344G= (p.Ser1115=) n.3162G= n.3370G= | |
1 | g.197435072G>T | CA344046609 | CRB1 | c.3209G>T (p.Ser1070Ile) c.2090G>T (p.Ser697Ile) c.1352G>T (p.Ser451Ile) c.2873G>T (p.Ser958Ile) c.3137G>T (p.Ser1046Ile) c.2129-528G>T (n.2129-528G>T) n.3210G>T n.3418G>T c.2627G>T (p.Ser876Ile) c.1652G>T (p.Ser551Ile) c.2366G>T (p.Ser789Ile) c.3344G>T (p.Ser1115Ile) n.3162G>T n.3370G>T | ClinVar dbSNP |
1 | g.197435073C>A | CA344046611 | CRB1 | c.3210C>A (p.Ser1070Arg) c.2091C>A (p.Ser697Arg) c.1353C>A (p.Ser451Arg) c.2874C>A (p.Ser958Arg) c.3138C>A (p.Ser1046Arg) c.2129-527C>A (n.2129-527C>A) n.3211C>A n.3419C>A c.2628C>A (p.Ser876Arg) c.1653C>A (p.Ser551Arg) c.2367C>A (p.Ser789Arg) c.3345C>A (p.Ser1115Arg) n.3163C>A n.3371C>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.197435073C= | CA1218068780 | CRB1 | c.3210C= (p.Ser1070=) c.2091C= (p.Ser697=) c.1353C= (p.Ser451=) c.2874C= (p.Ser958=) c.3138C= (p.Ser1046=) c.2129-527C= (n.2129-527C=) n.3211C= n.3419C= c.2628C= (p.Ser876=) c.1653C= (p.Ser551=) c.2367C= (p.Ser789=) c.3345C= (p.Ser1115=) n.3163C= n.3371C= | |
1 | g.197435073C>G | CA344046612 | CRB1 | c.3210C>G (p.Ser1070Arg) c.2091C>G (p.Ser697Arg) c.1353C>G (p.Ser451Arg) c.2874C>G (p.Ser958Arg) c.3138C>G (p.Ser1046Arg) c.2129-527C>G (n.2129-527C>G) n.3211C>G n.3419C>G c.2628C>G (p.Ser876Arg) c.1653C>G (p.Ser551Arg) c.2367C>G (p.Ser789Arg) c.3345C>G (p.Ser1115Arg) n.3163C>G n.3371C>G | |
1 | g.197435073C>T | CA422809221 | CRB1 | c.3210C>T (p.Ser1070=) c.2091C>T (p.Ser697=) c.1353C>T (p.Ser451=) c.2874C>T (p.Ser958=) c.3138C>T (p.Ser1046=) c.2129-527C>T (n.2129-527C>T) n.3211C>T n.3419C>T c.2628C>T (p.Ser876=) c.1653C>T (p.Ser551=) c.2367C>T (p.Ser789=) c.3345C>T (p.Ser1115=) n.3163C>T n.3371C>T | COSMIC COSMIC |
1 | g.197435074C>A | CA344046615 | CRB1 | c.3211C>A (p.Leu1071Ile) c.2092C>A (p.Leu698Ile) c.1354C>A (p.Leu452Ile) c.2875C>A (p.Leu959Ile) c.3139C>A (p.Leu1047Ile) c.2129-526C>A (n.2129-526C>A) n.3212C>A n.3420C>A c.2629C>A (p.Leu877Ile) c.1654C>A (p.Leu552Ile) c.2368C>A (p.Leu790Ile) c.3346C>A (p.Leu1116Ile) n.3164C>A n.3372C>A | gnomAD v4 |
1 | g.197435074C= | CA1144233385 | CRB1 | c.3211C= (p.Leu1071=) c.2092C= (p.Leu698=) c.1354C= (p.Leu452=) c.2875C= (p.Leu959=) c.3139C= (p.Leu1047=) c.2129-526C= (n.2129-526C=) n.3212C= n.3420C= c.2629C= (p.Leu877=) c.1654C= (p.Leu552=) c.2368C= (p.Leu790=) c.3346C= (p.Leu1116=) n.3164C= n.3372C= | |
1 | g.197435074C>G | CA344046617 | CRB1 | c.3211C>G (p.Leu1071Val) c.2092C>G (p.Leu698Val) c.1354C>G (p.Leu452Val) c.2875C>G (p.Leu959Val) c.3139C>G (p.Leu1047Val) c.2129-526C>G (n.2129-526C>G) n.3212C>G n.3420C>G c.2629C>G (p.Leu877Val) c.1654C>G (p.Leu552Val) c.2368C>G (p.Leu790Val) c.3346C>G (p.Leu1116Val) n.3164C>G n.3372C>G | |
1 | g.197435074C>T | CA224389 | CRB1 | c.3211C>T (p.Leu1071Phe) c.2092C>T (p.Leu698Phe) c.1354C>T (p.Leu452Phe) c.2875C>T (p.Leu959Phe) c.3139C>T (p.Leu1047Phe) c.2129-526C>T (n.2129-526C>T) n.3212C>T n.3420C>T c.2629C>T (p.Leu877Phe) c.1654C>T (p.Leu552Phe) c.2368C>T (p.Leu790Phe) c.3346C>T (p.Leu1116Phe) n.3164C>T n.3372C>T | ClinVar dbSNP |
1 | g.197435075T>A | CA344046621 | CRB1 | c.3212T>A (p.Leu1071His) c.2093T>A (p.Leu698His) c.1355T>A (p.Leu452His) c.2876T>A (p.Leu959His) c.3140T>A (p.Leu1047His) c.2129-525T>A (n.2129-525T>A) n.3213T>A n.3421T>A c.2630T>A (p.Leu877His) c.1655T>A (p.Leu552His) c.2369T>A (p.Leu790His) c.3347T>A (p.Leu1116His) n.3165T>A n.3373T>A | |
1 | g.197435075T>C | CA228034 | CRB1 | c.3212T>C (p.Leu1071Pro) c.2093T>C (p.Leu698Pro) c.1355T>C (p.Leu452Pro) c.2876T>C (p.Leu959Pro) c.3140T>C (p.Leu1047Pro) c.2129-525T>C (n.2129-525T>C) n.3213T>C n.3421T>C c.2630T>C (p.Leu877Pro) c.1655T>C (p.Leu552Pro) c.2369T>C (p.Leu790Pro) c.3347T>C (p.Leu1116Pro) n.3165T>C n.3373T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197435075T>G | CA344046625 | CRB1 | c.3212T>G (p.Leu1071Arg) c.2093T>G (p.Leu698Arg) c.1355T>G (p.Leu452Arg) c.2876T>G (p.Leu959Arg) c.3140T>G (p.Leu1047Arg) c.2129-525T>G (n.2129-525T>G) n.3213T>G n.3421T>G c.2630T>G (p.Leu877Arg) c.1655T>G (p.Leu552Arg) c.2369T>G (p.Leu790Arg) c.3347T>G (p.Leu1116Arg) n.3165T>G n.3373T>G | |
1 | g.197435075T= | CA1140762962 | CRB1 | c.3212T= (p.Leu1071=) c.2093T= (p.Leu698=) c.1355T= (p.Leu452=) c.2876T= (p.Leu959=) c.3140T= (p.Leu1047=) c.2129-525T= (n.2129-525T=) n.3213T= n.3421T= c.2630T= (p.Leu877=) c.1655T= (p.Leu552=) c.2369T= (p.Leu790=) c.3347T= (p.Leu1116=) n.3165T= n.3373T= | |
1 | g.197435076C>A | CA422809229 | CRB1 | c.3213C>A (p.Leu1071=) c.2094C>A (p.Leu698=) c.1356C>A (p.Leu452=) c.2877C>A (p.Leu959=) c.3141C>A (p.Leu1047=) c.2129-524C>A (n.2129-524C>A) n.3214C>A n.3422C>A c.2631C>A (p.Leu877=) c.1656C>A (p.Leu552=) c.2370C>A (p.Leu790=) c.3348C>A (p.Leu1116=) n.3166C>A n.3374C>A | |
1 | g.197435076C>G | CA422809230 | CRB1 | c.3213C>G (p.Leu1071=) c.2094C>G (p.Leu698=) c.1356C>G (p.Leu452=) c.2877C>G (p.Leu959=) c.3141C>G (p.Leu1047=) c.2129-524C>G (n.2129-524C>G) n.3214C>G n.3422C>G c.2631C>G (p.Leu877=) c.1656C>G (p.Leu552=) c.2370C>G (p.Leu790=) c.3348C>G (p.Leu1116=) n.3166C>G n.3374C>G | |
1 | g.197435076C>T | CA422809231 | CRB1 | c.3213C>T (p.Leu1071=) c.2094C>T (p.Leu698=) c.1356C>T (p.Leu452=) c.2877C>T (p.Leu959=) c.3141C>T (p.Leu1047=) c.2129-524C>T (n.2129-524C>T) n.3214C>T n.3422C>T c.2631C>T (p.Leu877=) c.1656C>T (p.Leu552=) c.2370C>T (p.Leu790=) c.3348C>T (p.Leu1116=) n.3166C>T n.3374C>T | ClinVar dbSNP gnomAD v4 |
1 | g.197435077A>C | CA344046629 | CRB1 | c.3214A>C (p.Asn1072His) c.2095A>C (p.Asn699His) c.1357A>C (p.Asn453His) c.2878A>C (p.Asn960His) c.3142A>C (p.Asn1048His) c.2129-523A>C (n.2129-523A>C) n.3215A>C n.3423A>C c.2632A>C (p.Asn878His) c.1657A>C (p.Asn553His) c.2371A>C (p.Asn791His) c.3349A>C (p.Asn1117His) n.3167A>C n.3375A>C | |
1 | g.197435077A>G | CA344046632 | CRB1 | c.3214A>G (p.Asn1072Asp) c.2095A>G (p.Asn699Asp) c.1357A>G (p.Asn453Asp) c.2878A>G (p.Asn960Asp) c.3142A>G (p.Asn1048Asp) c.2129-523A>G (n.2129-523A>G) n.3215A>G n.3423A>G c.2632A>G (p.Asn878Asp) c.1657A>G (p.Asn553Asp) c.2371A>G (p.Asn791Asp) c.3349A>G (p.Asn1117Asp) n.3167A>G n.3375A>G | COSMIC |
1 | g.197435077A>T | CA344046628 | CRB1 | c.3214A>T (p.Asn1072Tyr) c.2095A>T (p.Asn699Tyr) c.1357A>T (p.Asn453Tyr) c.2878A>T (p.Asn960Tyr) c.3142A>T (p.Asn1048Tyr) c.2129-523A>T (n.2129-523A>T) n.3215A>T n.3423A>T c.2632A>T (p.Asn878Tyr) c.1657A>T (p.Asn553Tyr) c.2371A>T (p.Asn791Tyr) c.3349A>T (p.Asn1117Tyr) n.3167A>T n.3375A>T | |
1 | g.197435078A= | CA1218068781 | CRB1 | c.3215A= (p.Asn1072=) c.2096A= (p.Asn699=) c.1358A= (p.Asn453=) c.2879A= (p.Asn960=) c.3143A= (p.Asn1048=) c.2129-522A= (n.2129-522A=) n.3216A= n.3424A= c.2633A= (p.Asn878=) c.1658A= (p.Asn553=) c.2372A= (p.Asn791=) c.3350A= (p.Asn1117=) n.3168A= n.3376A= | |
1 | g.197435078A>C | CA344046639 | CRB1 | c.3215A>C (p.Asn1072Thr) c.2096A>C (p.Asn699Thr) c.1358A>C (p.Asn453Thr) c.2879A>C (p.Asn960Thr) c.3143A>C (p.Asn1048Thr) c.2129-522A>C (n.2129-522A>C) n.3216A>C n.3424A>C c.2633A>C (p.Asn878Thr) c.1658A>C (p.Asn553Thr) c.2372A>C (p.Asn791Thr) c.3350A>C (p.Asn1117Thr) n.3168A>C n.3376A>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197435078A>G | CA1312293 | CRB1 | c.3215A>G (p.Asn1072Ser) c.2096A>G (p.Asn699Ser) c.1358A>G (p.Asn453Ser) c.2879A>G (p.Asn960Ser) c.3143A>G (p.Asn1048Ser) c.2129-522A>G (n.2129-522A>G) n.3216A>G n.3424A>G c.2633A>G (p.Asn878Ser) c.1658A>G (p.Asn553Ser) c.2372A>G (p.Asn791Ser) c.3350A>G (p.Asn1117Ser) n.3168A>G n.3376A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197435078A>T | CA344046637 | CRB1 | c.3215A>T (p.Asn1072Ile) c.2096A>T (p.Asn699Ile) c.1358A>T (p.Asn453Ile) c.2879A>T (p.Asn960Ile) c.3143A>T (p.Asn1048Ile) c.2129-522A>T (n.2129-522A>T) n.3216A>T n.3424A>T c.2633A>T (p.Asn878Ile) c.1658A>T (p.Asn553Ile) c.2372A>T (p.Asn791Ile) c.3350A>T (p.Asn1117Ile) n.3168A>T n.3376A>T | |
1 | g.197435078_197435079delinsAC | CA1218068782 | CRB1 | c.3215_3216delinsAC (p.Asn1072=) c.2096_2097delinsAC (p.Asn699=) c.1358_1359delinsAC (p.Asn453=) c.2879_2880delinsAC (p.Asn960=) c.3143_3144delinsAC (p.Asn1048=) c.2129-522_2129-521delinsAC (n.2129-522_2129-521delinsAC) n.3216_3217delinsAC n.3424_3425delinsAC c.2633_2634delinsAC (p.Asn878=) c.1658_1659delinsAC (p.Asn553=) c.2372_2373delinsAC (p.Asn791=) c.3350_3351delinsAC (p.Asn1117=) n.3168_3169delinsAC n.3376_3377delinsAC | |
1 | g.197435079del | CA1218068784 | CRB1 | c.3216del (p.Leu1074Ter) c.2097del (p.Leu701Ter) c.1359del (p.Leu455Ter) c.2880del (p.Leu962Ter) c.3144del (p.Leu1050Ter) c.2129-521del (n.2129-521del) n.3217del n.3425del c.2634del (p.Leu880Ter) c.1659del (p.Leu555Ter) c.2373del (p.Leu793Ter) c.3351del (p.Leu1119Ter) n.3169del n.3377del | dbSNP gnomAD v4 |
1 | g.197435079C>A | CA344046640 | CRB1 | c.3216C>A (p.Asn1072Lys) c.2097C>A (p.Asn699Lys) c.1359C>A (p.Asn453Lys) c.2880C>A (p.Asn960Lys) c.3144C>A (p.Asn1048Lys) c.2129-521C>A (n.2129-521C>A) n.3217C>A n.3425C>A c.2634C>A (p.Asn878Lys) c.1659C>A (p.Asn553Lys) c.2373C>A (p.Asn791Lys) c.3351C>A (p.Asn1117Lys) n.3169C>A n.3377C>A | |
1 | g.197435079C= | CA1218068783 | CRB1 | c.3216C= (p.Asn1072=) c.2097C= (p.Asn699=) c.1359C= (p.Asn453=) c.2880C= (p.Asn960=) c.3144C= (p.Asn1048=) c.2129-521C= (n.2129-521C=) n.3217C= n.3425C= c.2634C= (p.Asn878=) c.1659C= (p.Asn553=) c.2373C= (p.Asn791=) c.3351C= (p.Asn1117=) n.3169C= n.3377C= | |
1 | g.197435079C>G | CA344046642 | CRB1 | c.3216C>G (p.Asn1072Lys) c.2097C>G (p.Asn699Lys) c.1359C>G (p.Asn453Lys) c.2880C>G (p.Asn960Lys) c.3144C>G (p.Asn1048Lys) c.2129-521C>G (n.2129-521C>G) n.3217C>G n.3425C>G c.2634C>G (p.Asn878Lys) c.1659C>G (p.Asn553Lys) c.2373C>G (p.Asn791Lys) c.3351C>G (p.Asn1117Lys) n.3169C>G n.3377C>G | dbSNP gnomAD v4 |
1 | g.197435079C>T | CA422809237 | CRB1 | c.3216C>T (p.Asn1072=) c.2097C>T (p.Asn699=) c.1359C>T (p.Asn453=) c.2880C>T (p.Asn960=) c.3144C>T (p.Asn1048=) c.2129-521C>T (n.2129-521C>T) n.3217C>T n.3425C>T c.2634C>T (p.Asn878=) c.1659C>T (p.Asn553=) c.2373C>T (p.Asn791=) c.3351C>T (p.Asn1117=) n.3169C>T n.3377C>T | gnomAD v4 |
1 | g.197435080T>A | CA344046648 | CRB1 | c.3217T>A (p.Phe1073Ile) c.2098T>A (p.Phe700Ile) c.1360T>A (p.Phe454Ile) c.2881T>A (p.Phe961Ile) c.3145T>A (p.Phe1049Ile) c.2129-520T>A (n.2129-520T>A) n.3218T>A n.3426T>A c.2635T>A (p.Phe879Ile) c.1660T>A (p.Phe554Ile) c.2374T>A (p.Phe792Ile) c.3352T>A (p.Phe1118Ile) n.3170T>A n.3378T>A | dbSNP gnomAD v4 |
1 | g.197435080T>C | CA344046650 | CRB1 | c.3217T>C (p.Phe1073Leu) c.2098T>C (p.Phe700Leu) c.1360T>C (p.Phe454Leu) c.2881T>C (p.Phe961Leu) c.3145T>C (p.Phe1049Leu) c.2129-520T>C (n.2129-520T>C) n.3218T>C n.3426T>C c.2635T>C (p.Phe879Leu) c.1660T>C (p.Phe554Leu) c.2374T>C (p.Phe792Leu) c.3352T>C (p.Phe1118Leu) n.3170T>C n.3378T>C | |
1 | g.197435080T>G | CA344046652 | CRB1 | c.3217T>G (p.Phe1073Val) c.2098T>G (p.Phe700Val) c.1360T>G (p.Phe454Val) c.2881T>G (p.Phe961Val) c.3145T>G (p.Phe1049Val) c.2129-520T>G (n.2129-520T>G) n.3218T>G n.3426T>G c.2635T>G (p.Phe879Val) c.1660T>G (p.Phe554Val) c.2374T>G (p.Phe792Val) c.3352T>G (p.Phe1118Val) n.3170T>G n.3378T>G | COSMIC COSMIC |
1 | g.197435080T= | CA1218068785 | CRB1 | c.3217T= (p.Phe1073=) c.2098T= (p.Phe700=) c.1360T= (p.Phe454=) c.2881T= (p.Phe961=) c.3145T= (p.Phe1049=) c.2129-520T= (n.2129-520T=) n.3218T= n.3426T= c.2635T= (p.Phe879=) c.1660T= (p.Phe554=) c.2374T= (p.Phe792=) c.3352T= (p.Phe1118=) n.3170T= n.3378T= | |
1 | g.197435081T>A | CA344046659 | CRB1 | c.3218T>A (p.Phe1073Tyr) c.2099T>A (p.Phe700Tyr) c.1361T>A (p.Phe454Tyr) c.2882T>A (p.Phe961Tyr) c.3146T>A (p.Phe1049Tyr) c.2129-519T>A (n.2129-519T>A) n.3219T>A n.3427T>A c.2636T>A (p.Phe879Tyr) c.1661T>A (p.Phe554Tyr) c.2375T>A (p.Phe792Tyr) c.3353T>A (p.Phe1118Tyr) n.3171T>A n.3379T>A | |
1 | g.197435081T>C | CA344046655 | CRB1 | c.3218T>C (p.Phe1073Ser) c.2099T>C (p.Phe700Ser) c.1361T>C (p.Phe454Ser) c.2882T>C (p.Phe961Ser) c.3146T>C (p.Phe1049Ser) c.2129-519T>C (n.2129-519T>C) n.3219T>C n.3427T>C c.2636T>C (p.Phe879Ser) c.1661T>C (p.Phe554Ser) c.2375T>C (p.Phe792Ser) c.3353T>C (p.Phe1118Ser) n.3171T>C n.3379T>C | |
1 | g.197435081T>G | CA344046657 | CRB1 | c.3218T>G (p.Phe1073Cys) c.2099T>G (p.Phe700Cys) c.1361T>G (p.Phe454Cys) c.2882T>G (p.Phe961Cys) c.3146T>G (p.Phe1049Cys) c.2129-519T>G (n.2129-519T>G) n.3219T>G n.3427T>G c.2636T>G (p.Phe879Cys) c.1661T>G (p.Phe554Cys) c.2375T>G (p.Phe792Cys) c.3353T>G (p.Phe1118Cys) n.3171T>G n.3379T>G | |
1 | g.197435082T>A | CA344046662 | CRB1 | c.3219T>A (p.Phe1073Leu) c.2100T>A (p.Phe700Leu) c.1362T>A (p.Phe454Leu) c.2883T>A (p.Phe961Leu) c.3147T>A (p.Phe1049Leu) c.2129-518T>A (n.2129-518T>A) n.3220T>A n.3428T>A c.2637T>A (p.Phe879Leu) c.1662T>A (p.Phe554Leu) c.2376T>A (p.Phe792Leu) c.3354T>A (p.Phe1118Leu) n.3172T>A n.3380T>A | |
1 | g.197435082T>C | CA422809243 | CRB1 | c.3219T>C (p.Phe1073=) c.2100T>C (p.Phe700=) c.1362T>C (p.Phe454=) c.2883T>C (p.Phe961=) c.3147T>C (p.Phe1049=) c.2129-518T>C (n.2129-518T>C) n.3220T>C n.3428T>C c.2637T>C (p.Phe879=) c.1662T>C (p.Phe554=) c.2376T>C (p.Phe792=) c.3354T>C (p.Phe1118=) n.3172T>C n.3380T>C | |
1 | g.197435082T>G | CA344046664 | CRB1 | c.3219T>G (p.Phe1073Leu) c.2100T>G (p.Phe700Leu) c.1362T>G (p.Phe454Leu) c.2883T>G (p.Phe961Leu) c.3147T>G (p.Phe1049Leu) c.2129-518T>G (n.2129-518T>G) n.3220T>G n.3428T>G c.2637T>G (p.Phe879Leu) c.1662T>G (p.Phe554Leu) c.2376T>G (p.Phe792Leu) c.3354T>G (p.Phe1118Leu) n.3172T>G n.3380T>G | |
1 | g.197435083T>A | CA344046667 | CRB1 | c.3220T>A (p.Leu1074Met) c.2101T>A (p.Leu701Met) c.1363T>A (p.Leu455Met) c.2884T>A (p.Leu962Met) c.3148T>A (p.Leu1050Met) c.2129-517T>A (n.2129-517T>A) n.3221T>A n.3429T>A c.2638T>A (p.Leu880Met) c.1663T>A (p.Leu555Met) c.2377T>A (p.Leu793Met) c.3355T>A (p.Leu1119Met) n.3173T>A n.3381T>A | |
1 | g.197435083T>C | CA1312294 | CRB1 | c.3220T>C (p.Leu1074=) c.2101T>C (p.Leu701=) c.1363T>C (p.Leu455=) c.2884T>C (p.Leu962=) c.3148T>C (p.Leu1050=) c.2129-517T>C (n.2129-517T>C) n.3221T>C n.3429T>C c.2638T>C (p.Leu880=) c.1663T>C (p.Leu555=) c.2377T>C (p.Leu793=) c.3355T>C (p.Leu1119=) n.3173T>C n.3381T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197435083T>G | CA344046670 | CRB1 | c.3220T>G (p.Leu1074Val) c.2101T>G (p.Leu701Val) c.1363T>G (p.Leu455Val) c.2884T>G (p.Leu962Val) c.3148T>G (p.Leu1050Val) c.2129-517T>G (n.2129-517T>G) n.3221T>G n.3429T>G c.2638T>G (p.Leu880Val) c.1663T>G (p.Leu555Val) c.2377T>G (p.Leu793Val) c.3355T>G (p.Leu1119Val) n.3173T>G n.3381T>G | gnomAD v4 |
1 | g.197435083T= | CA1218068786 | CRB1 | c.3220T= (p.Leu1074=) c.2101T= (p.Leu701=) c.1363T= (p.Leu455=) c.2884T= (p.Leu962=) c.3148T= (p.Leu1050=) c.2129-517T= (n.2129-517T=) n.3221T= n.3429T= c.2638T= (p.Leu880=) c.1663T= (p.Leu555=) c.2377T= (p.Leu793=) c.3355T= (p.Leu1119=) n.3173T= n.3381T= | |
1 | g.197435084T>A | CA344046675 | CRB1 | c.3221T>A (p.Leu1074Ter) c.2102T>A (p.Leu701Ter) c.1364T>A (p.Leu455Ter) c.2885T>A (p.Leu962Ter) c.3149T>A (p.Leu1050Ter) c.2129-516T>A (n.2129-516T>A) n.3222T>A n.3430T>A c.2639T>A (p.Leu880Ter) c.1664T>A (p.Leu555Ter) c.2378T>A (p.Leu793Ter) c.3356T>A (p.Leu1119Ter) n.3174T>A n.3382T>A | |
1 | g.197435084T>C | CA1312295 | CRB1 | c.3221T>C (p.Leu1074Ser) c.2102T>C (p.Leu701Ser) c.1364T>C (p.Leu455Ser) c.2885T>C (p.Leu962Ser) c.3149T>C (p.Leu1050Ser) c.2129-516T>C (n.2129-516T>C) n.3222T>C n.3430T>C c.2639T>C (p.Leu880Ser) c.1664T>C (p.Leu555Ser) c.2378T>C (p.Leu793Ser) c.3356T>C (p.Leu1119Ser) n.3174T>C n.3382T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197435084T>G | CA344046674 | CRB1 | c.3221T>G (p.Leu1074Trp) c.2102T>G (p.Leu701Trp) c.1364T>G (p.Leu455Trp) c.2885T>G (p.Leu962Trp) c.3149T>G (p.Leu1050Trp) c.2129-516T>G (n.2129-516T>G) n.3222T>G n.3430T>G c.2639T>G (p.Leu880Trp) c.1664T>G (p.Leu555Trp) c.2378T>G (p.Leu793Trp) c.3356T>G (p.Leu1119Trp) n.3174T>G n.3382T>G | |
1 | g.197435084T= | CA1218068787 | CRB1 | c.3221T= (p.Leu1074=) c.2102T= (p.Leu701=) c.1364T= (p.Leu455=) c.2885T= (p.Leu962=) c.3149T= (p.Leu1050=) c.2129-516T= (n.2129-516T=) n.3222T= n.3430T= c.2639T= (p.Leu880=) c.1664T= (p.Leu555=) c.2378T= (p.Leu793=) c.3356T= (p.Leu1119=) n.3174T= n.3382T= | |
1 | g.197435085G>A | CA422809249 | CRB1 | c.3222G>A (p.Leu1074=) c.2103G>A (p.Leu701=) c.1365G>A (p.Leu455=) c.2886G>A (p.Leu962=) c.3150G>A (p.Leu1050=) c.2129-515G>A (n.2129-515G>A) n.3223G>A n.3431G>A c.2640G>A (p.Leu880=) c.1665G>A (p.Leu555=) c.2379G>A (p.Leu793=) c.3357G>A (p.Leu1119=) n.3175G>A n.3383G>A | gnomAD v4 |
1 | g.197435085G>C | CA344046678 | CRB1 | c.3222G>C (p.Leu1074Phe) c.2103G>C (p.Leu701Phe) c.1365G>C (p.Leu455Phe) c.2886G>C (p.Leu962Phe) c.3150G>C (p.Leu1050Phe) c.2129-515G>C (n.2129-515G>C) n.3223G>C n.3431G>C c.2640G>C (p.Leu880Phe) c.1665G>C (p.Leu555Phe) c.2379G>C (p.Leu793Phe) c.3357G>C (p.Leu1119Phe) n.3175G>C n.3383G>C | |
1 | g.197435085G>T | CA344046680 | CRB1 | c.3222G>T (p.Leu1074Phe) c.2103G>T (p.Leu701Phe) c.1365G>T (p.Leu455Phe) c.2886G>T (p.Leu962Phe) c.3150G>T (p.Leu1050Phe) c.2129-515G>T (n.2129-515G>T) n.3223G>T n.3431G>T c.2640G>T (p.Leu880Phe) c.1665G>T (p.Leu555Phe) c.2379G>T (p.Leu793Phe) c.3357G>T (p.Leu1119Phe) n.3175G>T n.3383G>T | |
1 | g.197435086A>C | CA344046682 | CRB1 | c.3223A>C (p.Lys1075Gln) c.2104A>C (p.Lys702Gln) c.1366A>C (p.Lys456Gln) c.2887A>C (p.Lys963Gln) c.3151A>C (p.Lys1051Gln) c.2129-514A>C (n.2129-514A>C) n.3224A>C n.3432A>C c.2641A>C (p.Lys881Gln) c.1666A>C (p.Lys556Gln) c.2380A>C (p.Lys794Gln) c.3358A>C (p.Lys1120Gln) n.3176A>C n.3384A>C | |
1 | g.197435086A>G | CA344046684 | CRB1 | c.3223A>G (p.Lys1075Glu) c.2104A>G (p.Lys702Glu) c.1366A>G (p.Lys456Glu) c.2887A>G (p.Lys963Glu) c.3151A>G (p.Lys1051Glu) c.2129-514A>G (n.2129-514A>G) n.3224A>G n.3432A>G c.2641A>G (p.Lys881Glu) c.1666A>G (p.Lys556Glu) c.2380A>G (p.Lys794Glu) c.3358A>G (p.Lys1120Glu) n.3176A>G n.3384A>G | |
1 | g.197435086A>T | CA344046690 | CRB1 | c.3223A>T (p.Lys1075Ter) c.2104A>T (p.Lys702Ter) c.1366A>T (p.Lys456Ter) c.2887A>T (p.Lys963Ter) c.3151A>T (p.Lys1051Ter) c.2129-514A>T (n.2129-514A>T) n.3224A>T n.3432A>T c.2641A>T (p.Lys881Ter) c.1666A>T (p.Lys556Ter) c.2380A>T (p.Lys794Ter) c.3358A>T (p.Lys1120Ter) n.3176A>T n.3384A>T | |
1 | g.197435087A>C | CA344046699 | CRB1 | c.3224A>C (p.Lys1075Thr) c.2105A>C (p.Lys702Thr) c.1367A>C (p.Lys456Thr) c.2888A>C (p.Lys963Thr) c.3152A>C (p.Lys1051Thr) c.2129-513A>C (n.2129-513A>C) n.3225A>C n.3433A>C c.2642A>C (p.Lys881Thr) c.1667A>C (p.Lys556Thr) c.2381A>C (p.Lys794Thr) c.3359A>C (p.Lys1120Thr) n.3177A>C n.3385A>C | ClinVar dbSNP |
1 | g.197435087A>G | CA344046697 | CRB1 | c.3224A>G (p.Lys1075Arg) c.2105A>G (p.Lys702Arg) c.1367A>G (p.Lys456Arg) c.2888A>G (p.Lys963Arg) c.3152A>G (p.Lys1051Arg) c.2129-513A>G (n.2129-513A>G) n.3225A>G n.3433A>G c.2642A>G (p.Lys881Arg) c.1667A>G (p.Lys556Arg) c.2381A>G (p.Lys794Arg) c.3359A>G (p.Lys1120Arg) n.3177A>G n.3385A>G | gnomAD v4 |
1 | g.197435087A>T | CA344046694 | CRB1 | c.3224A>T (p.Lys1075Met) c.2105A>T (p.Lys702Met) c.1367A>T (p.Lys456Met) c.2888A>T (p.Lys963Met) c.3152A>T (p.Lys1051Met) c.2129-513A>T (n.2129-513A>T) n.3225A>T n.3433A>T c.2642A>T (p.Lys881Met) c.1667A>T (p.Lys556Met) c.2381A>T (p.Lys794Met) c.3359A>T (p.Lys1120Met) n.3177A>T n.3385A>T | |
1 | g.197435088G>A | CA35907171 | CRB1 | c.3225G>A (p.Lys1075=) c.2106G>A (p.Lys702=) c.1368G>A (p.Lys456=) c.2889G>A (p.Lys963=) c.3153G>A (p.Lys1051=) c.2129-512G>A (n.2129-512G>A) n.3226G>A n.3434G>A c.2643G>A (p.Lys881=) c.1668G>A (p.Lys556=) c.2382G>A (p.Lys794=) c.3360G>A (p.Lys1120=) n.3178G>A n.3386G>A | ClinVar dbSNP |
1 | g.197435088G>C | CA344046704 | CRB1 | c.3225G>C (p.Lys1075Asn) c.2106G>C (p.Lys702Asn) c.1368G>C (p.Lys456Asn) c.2889G>C (p.Lys963Asn) c.3153G>C (p.Lys1051Asn) c.2129-512G>C (n.2129-512G>C) n.3226G>C n.3434G>C c.2643G>C (p.Lys881Asn) c.1668G>C (p.Lys556Asn) c.2382G>C (p.Lys794Asn) c.3360G>C (p.Lys1120Asn) n.3178G>C n.3386G>C | |
1 | g.197435088G= | CA1218068788 | CRB1 | c.3225G= (p.Lys1075=) c.2106G= (p.Lys702=) c.1368G= (p.Lys456=) c.2889G= (p.Lys963=) c.3153G= (p.Lys1051=) c.2129-512G= (n.2129-512G=) n.3226G= n.3434G= c.2643G= (p.Lys881=) c.1668G= (p.Lys556=) c.2382G= (p.Lys794=) c.3360G= (p.Lys1120=) n.3178G= n.3386G= | |
1 | g.197435088G>T | CA344046706 | CRB1 | c.3225G>T (p.Lys1075Asn) c.2106G>T (p.Lys702Asn) c.1368G>T (p.Lys456Asn) c.2889G>T (p.Lys963Asn) c.3153G>T (p.Lys1051Asn) c.2129-512G>T (n.2129-512G>T) n.3226G>T n.3434G>T c.2643G>T (p.Lys881Asn) c.1668G>T (p.Lys556Asn) c.2382G>T (p.Lys794Asn) c.3360G>T (p.Lys1120Asn) n.3178G>T n.3386G>T | |
1 | g.197435089G>A | CA1312296 | CRB1 | c.3226G>A (p.Asp1076Asn) c.2107G>A (p.Asp703Asn) c.1369G>A (p.Asp457Asn) c.2890G>A (p.Asp964Asn) c.3154G>A (p.Asp1052Asn) c.2129-511G>A (n.2129-511G>A) n.3227G>A n.3435G>A c.2644G>A (p.Asp882Asn) c.1669G>A (p.Asp557Asn) c.2383G>A (p.Asp795Asn) c.3361G>A (p.Asp1121Asn) n.3179G>A n.3387G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.197435089G>C | CA344046710 | CRB1 | c.3226G>C (p.Asp1076His) c.2107G>C (p.Asp703His) c.1369G>C (p.Asp457His) c.2890G>C (p.Asp964His) c.3154G>C (p.Asp1052His) c.2129-511G>C (n.2129-511G>C) n.3227G>C n.3435G>C c.2644G>C (p.Asp882His) c.1669G>C (p.Asp557His) c.2383G>C (p.Asp795His) c.3361G>C (p.Asp1121His) n.3179G>C n.3387G>C | |
1 | g.197435089G= | CA1218068789 | CRB1 | c.3226G= (p.Asp1076=) c.2107G= (p.Asp703=) c.1369G= (p.Asp457=) c.2890G= (p.Asp964=) c.3154G= (p.Asp1052=) c.2129-511G= (n.2129-511G=) n.3227G= n.3435G= c.2644G= (p.Asp882=) c.1669G= (p.Asp557=) c.2383G= (p.Asp795=) c.3361G= (p.Asp1121=) n.3179G= n.3387G= | |
1 | g.197435089G>T | CA344046712 | CRB1 | c.3226G>T (p.Asp1076Tyr) c.2107G>T (p.Asp703Tyr) c.1369G>T (p.Asp457Tyr) c.2890G>T (p.Asp964Tyr) c.3154G>T (p.Asp1052Tyr) c.2129-511G>T (n.2129-511G>T) n.3227G>T n.3435G>T c.2644G>T (p.Asp882Tyr) c.1669G>T (p.Asp557Tyr) c.2383G>T (p.Asp795Tyr) c.3361G>T (p.Asp1121Tyr) n.3179G>T n.3387G>T | |
1 | g.197435090A>C | CA344046715 | CRB1 | c.3227A>C (p.Asp1076Ala) c.2108A>C (p.Asp703Ala) c.1370A>C (p.Asp457Ala) c.2891A>C (p.Asp964Ala) c.3155A>C (p.Asp1052Ala) c.2129-510A>C (n.2129-510A>C) n.3228A>C n.3436A>C c.2645A>C (p.Asp882Ala) c.1670A>C (p.Asp557Ala) c.2384A>C (p.Asp795Ala) c.3362A>C (p.Asp1121Ala) n.3180A>C n.3388A>C | |
1 | g.197435090A>G | CA344046719 | CRB1 | c.3227A>G (p.Asp1076Gly) c.2108A>G (p.Asp703Gly) c.1370A>G (p.Asp457Gly) c.2891A>G (p.Asp964Gly) c.3155A>G (p.Asp1052Gly) c.2129-510A>G (n.2129-510A>G) n.3228A>G n.3436A>G c.2645A>G (p.Asp882Gly) c.1670A>G (p.Asp557Gly) c.2384A>G (p.Asp795Gly) c.3362A>G (p.Asp1121Gly) n.3180A>G n.3388A>G | |
1 | g.197435090A>T | CA344046717 | CRB1 | c.3227A>T (p.Asp1076Val) c.2108A>T (p.Asp703Val) c.1370A>T (p.Asp457Val) c.2891A>T (p.Asp964Val) c.3155A>T (p.Asp1052Val) c.2129-510A>T (n.2129-510A>T) n.3228A>T n.3436A>T c.2645A>T (p.Asp882Val) c.1670A>T (p.Asp557Val) c.2384A>T (p.Asp795Val) c.3362A>T (p.Asp1121Val) n.3180A>T n.3388A>T | |
1 | g.197435091T>A | CA344046722 | CRB1 | c.3228T>A (p.Asp1076Glu) c.2109T>A (p.Asp703Glu) c.1371T>A (p.Asp457Glu) c.2892T>A (p.Asp964Glu) c.3156T>A (p.Asp1052Glu) c.2129-509T>A (n.2129-509T>A) n.3229T>A n.3437T>A c.2646T>A (p.Asp882Glu) c.1671T>A (p.Asp557Glu) c.2385T>A (p.Asp795Glu) c.3363T>A (p.Asp1121Glu) n.3181T>A n.3389T>A | |
1 | g.197435091T>C | CA1312297 | CRB1 | c.3228T>C (p.Asp1076=) c.2109T>C (p.Asp703=) c.1371T>C (p.Asp457=) c.2892T>C (p.Asp964=) c.3156T>C (p.Asp1052=) c.2129-509T>C (n.2129-509T>C) n.3229T>C n.3437T>C c.2646T>C (p.Asp882=) c.1671T>C (p.Asp557=) c.2385T>C (p.Asp795=) c.3363T>C (p.Asp1121=) n.3181T>C n.3389T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197435091T>G | CA344046725 | CRB1 | c.3228T>G (p.Asp1076Glu) c.2109T>G (p.Asp703Glu) c.1371T>G (p.Asp457Glu) c.2892T>G (p.Asp964Glu) c.3156T>G (p.Asp1052Glu) c.2129-509T>G (n.2129-509T>G) n.3229T>G n.3437T>G c.2646T>G (p.Asp882Glu) c.1671T>G (p.Asp557Glu) c.2385T>G (p.Asp795Glu) c.3363T>G (p.Asp1121Glu) n.3181T>G n.3389T>G | |
1 | g.197435091T= | CA1218068790 | CRB1 | c.3228T= (p.Asp1076=) c.2109T= (p.Asp703=) c.1371T= (p.Asp457=) c.2892T= (p.Asp964=) c.3156T= (p.Asp1052=) c.2129-509T= (n.2129-509T=) n.3229T= n.3437T= c.2646T= (p.Asp882=) c.1671T= (p.Asp557=) c.2385T= (p.Asp795=) c.3363T= (p.Asp1121=) n.3181T= n.3389T= | |
1 | g.197435092A= | CA1218068791 | CRB1 | c.3229A= (p.Asn1077=) c.2110A= (p.Asn704=) c.1372A= (p.Asn458=) c.2893A= (p.Asn965=) c.3157A= (p.Asn1053=) c.2129-508A= (n.2129-508A=) n.3230A= n.3438A= c.2647A= (p.Asn883=) c.1672A= (p.Asn558=) c.2386A= (p.Asn796=) c.3364A= (p.Asn1122=) n.3182A= n.3390A= | |
1 | g.197435092A>C | CA344046728 | CRB1 | c.3229A>C (p.Asn1077His) c.2110A>C (p.Asn704His) c.1372A>C (p.Asn458His) c.2893A>C (p.Asn965His) c.3157A>C (p.Asn1053His) c.2129-508A>C (n.2129-508A>C) n.3230A>C n.3438A>C c.2647A>C (p.Asn883His) c.1672A>C (p.Asn558His) c.2386A>C (p.Asn796His) c.3364A>C (p.Asn1122His) n.3182A>C n.3390A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197435092A>G | CA344046729 | CRB1 | c.3229A>G (p.Asn1077Asp) c.2110A>G (p.Asn704Asp) c.1372A>G (p.Asn458Asp) c.2893A>G (p.Asn965Asp) c.3157A>G (p.Asn1053Asp) c.2129-508A>G (n.2129-508A>G) n.3230A>G n.3438A>G c.2647A>G (p.Asn883Asp) c.1672A>G (p.Asn558Asp) c.2386A>G (p.Asn796Asp) c.3364A>G (p.Asn1122Asp) n.3182A>G n.3390A>G | gnomAD v4 |
1 | g.197435092A>T | CA344046731 | CRB1 | c.3229A>T (p.Asn1077Tyr) c.2110A>T (p.Asn704Tyr) c.1372A>T (p.Asn458Tyr) c.2893A>T (p.Asn965Tyr) c.3157A>T (p.Asn1053Tyr) c.2129-508A>T (n.2129-508A>T) n.3230A>T n.3438A>T c.2647A>T (p.Asn883Tyr) c.1672A>T (p.Asn558Tyr) c.2386A>T (p.Asn796Tyr) c.3364A>T (p.Asn1122Tyr) n.3182A>T n.3390A>T | |
1 | g.197435093A= | CA1218068792 | CRB1 | c.3230A= (p.Asn1077=) c.2111A= (p.Asn704=) c.1373A= (p.Asn458=) c.2894A= (p.Asn965=) c.3158A= (p.Asn1053=) c.2129-507A= (n.2129-507A=) n.3231A= n.3439A= c.2648A= (p.Asn883=) c.1673A= (p.Asn558=) c.2387A= (p.Asn796=) c.3365A= (p.Asn1122=) n.3183A= n.3391A= | |
1 | g.197435093A>C | CA344046738 | CRB1 | c.3230A>C (p.Asn1077Thr) c.2111A>C (p.Asn704Thr) c.1373A>C (p.Asn458Thr) c.2894A>C (p.Asn965Thr) c.3158A>C (p.Asn1053Thr) c.2129-507A>C (n.2129-507A>C) n.3231A>C n.3439A>C c.2648A>C (p.Asn883Thr) c.1673A>C (p.Asn558Thr) c.2387A>C (p.Asn796Thr) c.3365A>C (p.Asn1122Thr) n.3183A>C n.3391A>C | dbSNP |
1 | g.197435093A>G | CA344046734 | CRB1 | c.3230A>G (p.Asn1077Ser) c.2111A>G (p.Asn704Ser) c.1373A>G (p.Asn458Ser) c.2894A>G (p.Asn965Ser) c.3158A>G (p.Asn1053Ser) c.2129-507A>G (n.2129-507A>G) n.3231A>G n.3439A>G c.2648A>G (p.Asn883Ser) c.1673A>G (p.Asn558Ser) c.2387A>G (p.Asn796Ser) c.3365A>G (p.Asn1122Ser) n.3183A>G n.3391A>G | |
1 | g.197435093A>T | CA344046736 | CRB1 | c.3230A>T (p.Asn1077Ile) c.2111A>T (p.Asn704Ile) c.1373A>T (p.Asn458Ile) c.2894A>T (p.Asn965Ile) c.3158A>T (p.Asn1053Ile) c.2129-507A>T (n.2129-507A>T) n.3231A>T n.3439A>T c.2648A>T (p.Asn883Ile) c.1673A>T (p.Asn558Ile) c.2387A>T (p.Asn796Ile) c.3365A>T (p.Asn1122Ile) n.3183A>T n.3391A>T | |
1 | g.197435094T>A | CA344046740 | CRB1 | c.3231T>A (p.Asn1077Lys) c.2112T>A (p.Asn704Lys) c.1374T>A (p.Asn458Lys) c.2895T>A (p.Asn965Lys) c.3159T>A (p.Asn1053Lys) c.2129-506T>A (n.2129-506T>A) n.3232T>A n.3440T>A c.2649T>A (p.Asn883Lys) c.1674T>A (p.Asn558Lys) c.2388T>A (p.Asn796Lys) c.3366T>A (p.Asn1122Lys) n.3184T>A n.3392T>A | |
1 | g.197435094T>C | CA422809268 | CRB1 | c.3231T>C (p.Asn1077=) c.2112T>C (p.Asn704=) c.1374T>C (p.Asn458=) c.2895T>C (p.Asn965=) c.3159T>C (p.Asn1053=) c.2129-506T>C (n.2129-506T>C) n.3232T>C n.3440T>C c.2649T>C (p.Asn883=) c.1674T>C (p.Asn558=) c.2388T>C (p.Asn796=) c.3366T>C (p.Asn1122=) n.3184T>C n.3392T>C | ClinVar dbSNP COSMIC |
1 | g.197435094T>G | CA344046742 | CRB1 | c.3231T>G (p.Asn1077Lys) c.2112T>G (p.Asn704Lys) c.1374T>G (p.Asn458Lys) c.2895T>G (p.Asn965Lys) c.3159T>G (p.Asn1053Lys) c.2129-506T>G (n.2129-506T>G) n.3232T>G n.3440T>G c.2649T>G (p.Asn883Lys) c.1674T>G (p.Asn558Lys) c.2388T>G (p.Asn796Lys) c.3366T>G (p.Asn1122Lys) n.3184T>G n.3392T>G | |
1 | g.197435095A= | CA1144853253 | CRB1 | c.3232A= (p.Thr1078=) c.2113A= (p.Thr705=) c.1375A= (p.Thr459=) c.2896A= (p.Thr966=) c.3160A= (p.Thr1054=) c.2129-505A= (n.2129-505A=) n.3233A= n.3441A= c.2650A= (p.Thr884=) c.1675A= (p.Thr559=) c.2389A= (p.Thr797=) c.3367A= (p.Thr1123=) n.3185A= n.3393A= | |
1 | g.197435095A>C | CA35907196 | CRB1 | c.3232A>C (p.Thr1078Pro) c.2113A>C (p.Thr705Pro) c.1375A>C (p.Thr459Pro) c.2896A>C (p.Thr966Pro) c.3160A>C (p.Thr1054Pro) c.2129-505A>C (n.2129-505A>C) n.3233A>C n.3441A>C c.2650A>C (p.Thr884Pro) c.1675A>C (p.Thr559Pro) c.2389A>C (p.Thr797Pro) c.3367A>C (p.Thr1123Pro) n.3185A>C n.3393A>C | dbSNP |
1 | g.197435095A>G | CA1312298 | CRB1 | c.3232A>G (p.Thr1078Ala) c.2113A>G (p.Thr705Ala) c.1375A>G (p.Thr459Ala) c.2896A>G (p.Thr966Ala) c.3160A>G (p.Thr1054Ala) c.2129-505A>G (n.2129-505A>G) n.3233A>G n.3441A>G c.2650A>G (p.Thr884Ala) c.1675A>G (p.Thr559Ala) c.2389A>G (p.Thr797Ala) c.3367A>G (p.Thr1123Ala) n.3185A>G n.3393A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197435095A>T | CA344046748 | CRB1 | c.3232A>T (p.Thr1078Ser) c.2113A>T (p.Thr705Ser) c.1375A>T (p.Thr459Ser) c.2896A>T (p.Thr966Ser) c.3160A>T (p.Thr1054Ser) c.2129-505A>T (n.2129-505A>T) n.3233A>T n.3441A>T c.2650A>T (p.Thr884Ser) c.1675A>T (p.Thr559Ser) c.2389A>T (p.Thr797Ser) c.3367A>T (p.Thr1123Ser) n.3185A>T n.3393A>T | |
1 | g.197435096C>A | CA344046751 | CRB1 | c.3233C>A (p.Thr1078Lys) c.2114C>A (p.Thr705Lys) c.1376C>A (p.Thr459Lys) c.2897C>A (p.Thr966Lys) c.3161C>A (p.Thr1054Lys) c.2129-504C>A (n.2129-504C>A) n.3234C>A n.3442C>A c.2651C>A (p.Thr884Lys) c.1676C>A (p.Thr559Lys) c.2390C>A (p.Thr797Lys) c.3368C>A (p.Thr1123Lys) n.3186C>A n.3394C>A | |
1 | g.197435096C= | CA1218068793 | CRB1 | c.3233C= (p.Thr1078=) c.2114C= (p.Thr705=) c.1376C= (p.Thr459=) c.2897C= (p.Thr966=) c.3161C= (p.Thr1054=) c.2129-504C= (n.2129-504C=) n.3234C= n.3442C= c.2651C= (p.Thr884=) c.1676C= (p.Thr559=) c.2390C= (p.Thr797=) c.3368C= (p.Thr1123=) n.3186C= n.3394C= | |
1 | g.197435096C>G | CA344046755 | CRB1 | c.3233C>G (p.Thr1078Arg) c.2114C>G (p.Thr705Arg) c.1376C>G (p.Thr459Arg) c.2897C>G (p.Thr966Arg) c.3161C>G (p.Thr1054Arg) c.2129-504C>G (n.2129-504C>G) n.3234C>G n.3442C>G c.2651C>G (p.Thr884Arg) c.1676C>G (p.Thr559Arg) c.2390C>G (p.Thr797Arg) c.3368C>G (p.Thr1123Arg) n.3186C>G n.3394C>G | |
1 | g.197435096C>T | CA344046753 | CRB1 | c.3233C>T (p.Thr1078Ile) c.2114C>T (p.Thr705Ile) c.1376C>T (p.Thr459Ile) c.2897C>T (p.Thr966Ile) c.3161C>T (p.Thr1054Ile) c.2129-504C>T (n.2129-504C>T) n.3234C>T n.3442C>T c.2651C>T (p.Thr884Ile) c.1676C>T (p.Thr559Ile) c.2390C>T (p.Thr797Ile) c.3368C>T (p.Thr1123Ile) n.3186C>T n.3394C>T | dbSNP |
1 | g.197435097A>C | CA422809278 | CRB1 | c.3234A>C (p.Thr1078=) c.2115A>C (p.Thr705=) c.1377A>C (p.Thr459=) c.2898A>C (p.Thr966=) c.3162A>C (p.Thr1054=) c.2129-503A>C (n.2129-503A>C) n.3235A>C n.3443A>C c.2652A>C (p.Thr884=) c.1677A>C (p.Thr559=) c.2391A>C (p.Thr797=) c.3369A>C (p.Thr1123=) n.3187A>C n.3395A>C | |
1 | g.197435097A>G | CA422809282 | CRB1 | c.3234A>G (p.Thr1078=) c.2115A>G (p.Thr705=) c.1377A>G (p.Thr459=) c.2898A>G (p.Thr966=) c.3162A>G (p.Thr1054=) c.2129-503A>G (n.2129-503A>G) n.3235A>G n.3443A>G c.2652A>G (p.Thr884=) c.1677A>G (p.Thr559=) c.2391A>G (p.Thr797=) c.3369A>G (p.Thr1123=) n.3187A>G n.3395A>G | |
1 | g.197435097A>T | CA422809284 | CRB1 | c.3234A>T (p.Thr1078=) c.2115A>T (p.Thr705=) c.1377A>T (p.Thr459=) c.2898A>T (p.Thr966=) c.3162A>T (p.Thr1054=) c.2129-503A>T (n.2129-503A>T) n.3235A>T n.3443A>T c.2652A>T (p.Thr884=) c.1677A>T (p.Thr559=) c.2391A>T (p.Thr797=) c.3369A>T (p.Thr1123=) n.3187A>T n.3395A>T | |
1 | g.197435098G>A | CA344046758 | CRB1 | c.3235G>A (p.Asp1079Asn) c.2116G>A (p.Asp706Asn) c.1378G>A (p.Asp460Asn) c.2899G>A (p.Asp967Asn) c.3163G>A (p.Asp1055Asn) c.2129-502G>A (n.2129-502G>A) n.3236G>A n.3444G>A c.2653G>A (p.Asp885Asn) c.1678G>A (p.Asp560Asn) c.2392G>A (p.Asp798Asn) c.3370G>A (p.Asp1124Asn) n.3188G>A n.3396G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.197435098G>C | CA344046760 | CRB1 | c.3235G>C (p.Asp1079His) c.2116G>C (p.Asp706His) c.1378G>C (p.Asp460His) c.2899G>C (p.Asp967His) c.3163G>C (p.Asp1055His) c.2129-502G>C (n.2129-502G>C) n.3236G>C n.3444G>C c.2653G>C (p.Asp885His) c.1678G>C (p.Asp560His) c.2392G>C (p.Asp798His) c.3370G>C (p.Asp1124His) n.3188G>C n.3396G>C | |
1 | g.197435098G= | CA1218068794 | CRB1 | c.3235G= (p.Asp1079=) c.2116G= (p.Asp706=) c.1378G= (p.Asp460=) c.2899G= (p.Asp967=) c.3163G= (p.Asp1055=) c.2129-502G= (n.2129-502G=) n.3236G= n.3444G= c.2653G= (p.Asp885=) c.1678G= (p.Asp560=) c.2392G= (p.Asp798=) c.3370G= (p.Asp1124=) n.3188G= n.3396G= | |
1 | g.197435098G>T | CA344046763 | CRB1 | c.3235G>T (p.Asp1079Tyr) c.2116G>T (p.Asp706Tyr) c.1378G>T (p.Asp460Tyr) c.2899G>T (p.Asp967Tyr) c.3163G>T (p.Asp1055Tyr) c.2129-502G>T (n.2129-502G>T) n.3236G>T n.3444G>T c.2653G>T (p.Asp885Tyr) c.1678G>T (p.Asp560Tyr) c.2392G>T (p.Asp798Tyr) c.3370G>T (p.Asp1124Tyr) n.3188G>T n.3396G>T | COSMIC COSMIC |
1 | g.197435099A>C | CA344046766 | CRB1 | c.3236A>C (p.Asp1079Ala) c.2117A>C (p.Asp706Ala) c.1379A>C (p.Asp460Ala) c.2900A>C (p.Asp967Ala) c.3164A>C (p.Asp1055Ala) c.2129-501A>C (n.2129-501A>C) n.3237A>C n.3445A>C c.2654A>C (p.Asp885Ala) c.1679A>C (p.Asp560Ala) c.2393A>C (p.Asp798Ala) c.3371A>C (p.Asp1124Ala) n.3189A>C n.3397A>C | |
1 | g.197435099A>G | CA344046768 | CRB1 | c.3236A>G (p.Asp1079Gly) c.2117A>G (p.Asp706Gly) c.1379A>G (p.Asp460Gly) c.2900A>G (p.Asp967Gly) c.3164A>G (p.Asp1055Gly) c.2129-501A>G (n.2129-501A>G) n.3237A>G n.3445A>G c.2654A>G (p.Asp885Gly) c.1679A>G (p.Asp560Gly) c.2393A>G (p.Asp798Gly) c.3371A>G (p.Asp1124Gly) n.3189A>G n.3397A>G | gnomAD v4 |
1 | g.197435099A>T | CA344046770 | CRB1 | c.3236A>T (p.Asp1079Val) c.2117A>T (p.Asp706Val) c.1379A>T (p.Asp460Val) c.2900A>T (p.Asp967Val) c.3164A>T (p.Asp1055Val) c.2129-501A>T (n.2129-501A>T) n.3237A>T n.3445A>T c.2654A>T (p.Asp885Val) c.1679A>T (p.Asp560Val) c.2393A>T (p.Asp798Val) c.3371A>T (p.Asp1124Val) n.3189A>T n.3397A>T | |
1 | g.197435100T>A | CA344046773 | CRB1 | c.3237T>A (p.Asp1079Glu) c.2118T>A (p.Asp706Glu) c.1380T>A (p.Asp460Glu) c.2901T>A (p.Asp967Glu) c.3165T>A (p.Asp1055Glu) c.2129-500T>A (n.2129-500T>A) n.3238T>A n.3446T>A c.2655T>A (p.Asp885Glu) c.1680T>A (p.Asp560Glu) c.2394T>A (p.Asp798Glu) c.3372T>A (p.Asp1124Glu) n.3190T>A n.3398T>A | |
1 | g.197435100T>C | CA422809302 | CRB1 | c.3237T>C (p.Asp1079=) c.2118T>C (p.Asp706=) c.1380T>C (p.Asp460=) c.2901T>C (p.Asp967=) c.3165T>C (p.Asp1055=) c.2129-500T>C (n.2129-500T>C) n.3238T>C n.3446T>C c.2655T>C (p.Asp885=) c.1680T>C (p.Asp560=) c.2394T>C (p.Asp798=) c.3372T>C (p.Asp1124=) n.3190T>C n.3398T>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197435100T>G | CA344046775 | CRB1 | c.3237T>G (p.Asp1079Glu) c.2118T>G (p.Asp706Glu) c.1380T>G (p.Asp460Glu) c.2901T>G (p.Asp967Glu) c.3165T>G (p.Asp1055Glu) c.2129-500T>G (n.2129-500T>G) n.3238T>G n.3446T>G c.2655T>G (p.Asp885Glu) c.1680T>G (p.Asp560Glu) c.2394T>G (p.Asp798Glu) c.3372T>G (p.Asp1124Glu) n.3190T>G n.3398T>G | |
1 | g.197435100T= | CA1218068795 | CRB1 | c.3237T= (p.Asp1079=) c.2118T= (p.Asp706=) c.1380T= (p.Asp460=) c.2901T= (p.Asp967=) c.3165T= (p.Asp1055=) c.2129-500T= (n.2129-500T=) n.3238T= n.3446T= c.2655T= (p.Asp885=) c.1680T= (p.Asp560=) c.2394T= (p.Asp798=) c.3372T= (p.Asp1124=) n.3190T= n.3398T= | |
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.197435111del | CA2837994670 | CRB1 | c.3248del (p.Gly1083GlufsTer8) c.2129del (p.Gly710GlufsTer8) c.1391del (p.Gly464GlufsTer8) c.2912del (p.Gly971GlufsTer8) c.3176del (p.Gly1059GlufsTer8) c.2129-489del (n.2129-489del) n.3249del n.3457del c.2666del (p.Gly889GlufsTer8) c.1691del (p.Gly564GlufsTer8) c.2405del (p.Gly802GlufsTer8) c.3383del (p.Gly1128GlufsTer8) n.3201del n.3409del | |
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 |