Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.197435070A>CCA422809215CRB1c.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
1g.197435070A>GCA422809214CRB1c.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
1g.197435070A>TCA422809213CRB1c.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
1g.197435071A>CCA344046598CRB1c.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
1g.197435071A>GCA344046600CRB1c.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
1g.197435071A>TCA344046602CRB1c.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
1g.197435072G>ACA344046605CRB1c.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
1g.197435072G>CCA344046607CRB1c.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
1g.197435072G=CA1218068779CRB1c.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=
1g.197435072G>TCA344046609CRB1c.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
1g.197435073C>ACA344046611CRB1c.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
1g.197435073C=CA1218068780CRB1c.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=
1g.197435073C>GCA344046612CRB1c.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
1g.197435073C>TCA422809221CRB1c.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
1g.197435074C>ACA344046615CRB1c.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
1g.197435074C=CA1144233385CRB1c.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=
1g.197435074C>GCA344046617CRB1c.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
1g.197435074C>TCA224389CRB1c.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
1g.197435075T>ACA344046621CRB1c.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
1g.197435075T>CCA228034CRB1c.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
1g.197435075T>GCA344046625CRB1c.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
1g.197435075T=CA1140762962CRB1c.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=
1g.197435076C>ACA422809229CRB1c.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
1g.197435076C>GCA422809230CRB1c.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
1g.197435076C>TCA422809231CRB1c.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
1g.197435077A>CCA344046629CRB1c.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
1g.197435077A>GCA344046632CRB1c.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
1g.197435077A>TCA344046628CRB1c.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
1g.197435078A=CA1218068781CRB1c.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=
1g.197435078A>CCA344046639CRB1c.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
1g.197435078A>GCA1312293CRB1c.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
1g.197435078A>TCA344046637CRB1c.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
1g.197435078_197435079delinsACCA1218068782CRB1c.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
1g.197435079delCA1218068784CRB1c.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
1g.197435079C>ACA344046640CRB1c.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
1g.197435079C=CA1218068783CRB1c.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=
1g.197435079C>GCA344046642CRB1c.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
1g.197435079C>TCA422809237CRB1c.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
1g.197435080T>ACA344046648CRB1c.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
1g.197435080T>CCA344046650CRB1c.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
1g.197435080T>GCA344046652CRB1c.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
1g.197435080T=CA1218068785CRB1c.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=
1g.197435081T>ACA344046659CRB1c.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
1g.197435081T>CCA344046655CRB1c.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
1g.197435081T>GCA344046657CRB1c.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
1g.197435082T>ACA344046662CRB1c.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
1g.197435082T>CCA422809243CRB1c.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
1g.197435082T>GCA344046664CRB1c.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
1g.197435083T>ACA344046667CRB1c.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
1g.197435083T>CCA1312294CRB1c.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
1g.197435083T>GCA344046670CRB1c.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
1g.197435083T=CA1218068786CRB1c.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=
1g.197435084T>ACA344046675CRB1c.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
1g.197435084T>CCA1312295CRB1c.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
1g.197435084T>GCA344046674CRB1c.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
1g.197435084T=CA1218068787CRB1c.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=
1g.197435085G>ACA422809249CRB1c.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
1g.197435085G>CCA344046678CRB1c.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
1g.197435085G>TCA344046680CRB1c.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
1g.197435086A>CCA344046682CRB1c.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
1g.197435086A>GCA344046684CRB1c.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
1g.197435086A>TCA344046690CRB1c.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
1g.197435087A>CCA344046699CRB1c.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
1g.197435087A>GCA344046697CRB1c.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
1g.197435087A>TCA344046694CRB1c.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
1g.197435088G>ACA35907171CRB1c.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
1g.197435088G>CCA344046704CRB1c.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
1g.197435088G=CA1218068788CRB1c.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=
1g.197435088G>TCA344046706CRB1c.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
1g.197435089G>ACA1312296CRB1c.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
1g.197435089G>CCA344046710CRB1c.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
1g.197435089G=CA1218068789CRB1c.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=
1g.197435089G>TCA344046712CRB1c.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
1g.197435090A>CCA344046715CRB1c.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
1g.197435090A>GCA344046719CRB1c.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
1g.197435090A>TCA344046717CRB1c.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
1g.197435091T>ACA344046722CRB1c.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
1g.197435091T>CCA1312297CRB1c.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
1g.197435091T>GCA344046725CRB1c.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
1g.197435091T=CA1218068790CRB1c.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=
1g.197435092A=CA1218068791CRB1c.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=
1g.197435092A>CCA344046728CRB1c.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
1g.197435092A>GCA344046729CRB1c.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
1g.197435092A>TCA344046731CRB1c.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
1g.197435093A=CA1218068792CRB1c.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=
1g.197435093A>CCA344046738CRB1c.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
1g.197435093A>GCA344046734CRB1c.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
1g.197435093A>TCA344046736CRB1c.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
1g.197435094T>ACA344046740CRB1c.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
1g.197435094T>CCA422809268CRB1c.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
1g.197435094T>GCA344046742CRB1c.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
1g.197435095A=CA1144853253CRB1c.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=
1g.197435095A>CCA35907196CRB1c.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
1g.197435095A>GCA1312298CRB1c.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
1g.197435095A>TCA344046748CRB1c.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
1g.197435096C>ACA344046751CRB1c.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
1g.197435096C=CA1218068793CRB1c.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=
1g.197435096C>GCA344046755CRB1c.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
1g.197435096C>TCA344046753CRB1c.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
1g.197435097A>CCA422809278CRB1c.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
1g.197435097A>GCA422809282CRB1c.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
1g.197435097A>TCA422809284CRB1c.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
1g.197435098G>ACA344046758CRB1c.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
1g.197435098G>CCA344046760CRB1c.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
1g.197435098G=CA1218068794CRB1c.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=
1g.197435098G>TCA344046763CRB1c.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
1g.197435099A>CCA344046766CRB1c.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
1g.197435099A>GCA344046768CRB1c.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
1g.197435099A>TCA344046770CRB1c.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
1g.197435100T>ACA344046773CRB1c.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
1g.197435100T>CCA422809302CRB1c.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
1g.197435100T>GCA344046775CRB1c.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
1g.197435100T=CA1218068795CRB1c.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=
1g.197435101A>CCA344046778CRB1c.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
1g.197435101A>GCA344046780CRB1c.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
1g.197435101A>TCA344046781CRB1c.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
1g.197435102T>ACA344046784CRB1c.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
1g.197435102T>CCA1312299CRB1c.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
1g.197435102T>GCA344046786CRB1c.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
1g.197435102T=CA1218068796CRB1c.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=
1g.197435103T>ACA422809312CRB1c.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
1g.197435103T>CCA422809314CRB1c.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
1g.197435103T>GCA344046791CRB1c.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
1g.197435104T>ACA344046797CRB1c.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
1g.197435104T>CCA344046794CRB1c.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
1g.197435104T>GCA344046796CRB1c.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
1g.197435105A>CCA344046799CRB1c.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
1g.197435105A>GCA344046801CRB1c.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
1g.197435105A>TCA344046803CRB1c.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
1g.197435106T>ACA344046805CRB1c.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
1g.197435106T>CCA422809324CRB1c.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
1g.197435106T>GCA344046807CRB1c.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
1g.197435106T=CA1218068797CRB1c.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=
1g.197435107G>ACA1312300CRB1c.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
1g.197435107G>CCA344046810CRB1c.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
1g.197435107G=CA1147340023CRB1c.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=
1g.197435107G>TCA344046812CRB1c.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
1g.197435108T>ACA344046815CRB1c.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
1g.197435108T>CCA344046816CRB1c.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
1g.197435108T>GCA344046819CRB1c.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
1g.197435109G>ACA422809330CRB1c.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
1g.197435109G>CCA422809331CRB1c.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
1g.197435109G>TCA422809333CRB1c.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
1g.197435110G>ACA1312301CRB1c.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
1g.197435110G>CCA344046821CRB1c.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
1g.197435110G=CA1149131823CRB1c.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=
1g.197435110G>TCA344046824CRB1c.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
1g.197435111G>ACA344046828CRB1c.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
1g.197435111G>CCA344046830CRB1c.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
1g.197435111G=CA1218068798CRB1c.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=
1g.197435111G>TCA344046832CRB1c.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
1g.197435112A=CA1218068799CRB1c.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=
1g.197435112A>CCA35907241CRB1c.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
1g.197435112A>GCA422809350CRB1c.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
1g.197435112A>TCA422809347CRB1c.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
1g.197435113G>ACA1312302CRB1c.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
1g.197435113G>CCA344046837CRB1c.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
1g.197435113G=CA1218068800CRB1c.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=
1g.197435113G>TCA344046839CRB1c.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
1g.197435114A=CA1218068801CRB1c.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=
1g.197435114A>CCA344046842CRB1c.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
1g.197435114A>GCA1312303CRB1c.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
1g.197435114A>TCA344046845CRB1c.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
1g.197435115C>ACA344046848CRB1c.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
1g.197435115C>GCA344046850CRB1c.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
1g.197435115C>TCA422809355CRB1c.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
1g.197435116A>CCA422809356CRB1c.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
1g.197435116A>GCA344046853CRB1c.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
1g.197435116A>TCA344046855CRB1c.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
1g.197435117G>ACA344046857CRB1c.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
1g.197435117G>CCA344046859CRB1c.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
1g.197435117G>TCA344046860CRB1c.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
1g.197435118A=CA1218068802CRB1c.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=
1g.197435118A>CCA344046863CRB1c.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
1g.197435118A>GCA1312304CRB1c.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
1g.197435118A>TCA344046866CRB1c.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
1g.197435119G>ACA344046869CRB1c.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
1g.197435119G>CCA344046871CRB1c.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
1g.197435119G>TCA344046873CRB1c.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
1g.197435120C>ACA344046877CRB1c.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
1g.197435120C=CA1218068803CRB1c.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=
1g.197435120C>GCA344046879CRB1c.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
1g.197435120C>TCA344046881CRB1c.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
1g.197435121T>ACA1312305CRB1c.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
1g.197435121T>CCA422809367CRB1c.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
1g.197435121T>GCA422809368CRB1c.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
1g.197435121T=CA1144863167CRB1c.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=
1g.197435122A=CA1218068804CRB1c.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=
1g.197435122A>CCA344046890CRB1c.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
1g.197435122A>GCA344046886CRB1c.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
1g.197435122A>TCA344046888CRB1c.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
1g.197435123T>ACA344046893CRB1c.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
1g.197435123T>CCA344046894CRB1c.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
1g.197435123T>GCA344046897CRB1c.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
1g.197435124T>ACA422809376CRB1c.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
1g.197435124T>CCA422809379CRB1c.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
1g.197435124T>GCA344046900CRB1c.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
1g.197435124_197435125insACCA2747248275CRB1c.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
1g.197435125G>ACA344046902CRB1c.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
1g.197435125G>CCA344046905CRB1c.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
1g.197435125G>TCA344046907CRB1c.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
1g.197435126A>CCA344046910CRB1c.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
1g.197435126A>GCA344046912CRB1c.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
1g.197435126A>TCA344046915CRB1c.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
1g.197435127C>ACA344046918CRB1c.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
1g.197435127C>GCA344046920CRB1c.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
1g.197435127C>TCA422809389CRB1c.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
1g.197435128A>CCA344046927CRB1c.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
1g.197435128A>GCA344046923CRB1c.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
1g.197435128A>TCA344046925CRB1c.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
1g.197435129A=CA1218068805CRB1c.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=
1g.197435129A>CCA344046931CRB1c.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
1g.197435129A>GCA1312306CRB1c.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
1g.197435129A>TCA344046934CRB1c.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
1g.197435130T>ACA344046936CRB1c.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
1g.197435130T>CCA422809392CRB1c.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
1g.197435130T>GCA344046938CRB1c.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
1g.197435131A=CA1218068806CRB1c.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=
1g.197435131A>CCA344046942CRB1c.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
1g.197435131A>GCA344046944CRB1c.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
1g.197435131A>TCA344046946CRB1c.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
1g.197435132T>ACA344046949CRB1c.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
1g.197435132T>CCA1312307CRB1c.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
1g.197435132T>GCA344046950CRB1c.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
1g.197435132T=CA1218068807CRB1c.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=
1g.197435133A>CCA422809406CRB1c.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
1g.197435133A>GCA344046955CRB1c.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
1g.197435133A>TCA422809401CRB1c.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
1g.197435134A>CCA344046957CRB1c.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
1g.197435134A>GCA344046960CRB1c.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
1g.197435134A>TCA344046962CRB1c.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
1g.197435135A>CCA344046967CRB1c.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
1g.197435135A>GCA344046964CRB1c.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
1g.197435135A>TCA344046966CRB1c.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
1g.197435136G>ACA422809418CRB1c.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
1g.197435136G>CCA344046968CRB1c.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
1g.197435136G>TCA344046969CRB1c.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
1g.197435137G>ACA344046970CRB1c.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
1g.197435137G>CCA344046971CRB1c.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
1g.197435137G=CA1218068808CRB1c.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=
1g.197435137G>TCA344046972CRB1c.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
1g.197435138G>ACA35907313CRB1c.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
1g.197435138G>CCA344046974CRB1c.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
1g.197435138G=CA1218068809CRB1c.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=
1g.197435138G>TCA344046973CRB1c.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
1g.197435139C>ACA1312308CRB1c.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
1g.197435139C=CA1146000766CRB1c.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=
1g.197435139C>GCA422809060CRB1c.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
1g.197435139C>TCA422809059CRB1c.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
1g.197435140C>ACA344046975CRB1c.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
1g.197435140C=CA1218068810CRB1c.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=
1g.197435140C>GCA344046976CRB1c.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
1g.197435140C>TCA35907324CRB1c.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
1g.197435141T>ACA344046977CRB1c.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
1g.197435141T>CCA344046978CRB1c.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
1g.197435141T>GCA344046979CRB1c.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
1g.197435142G>ACA422809078CRB1c.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
1g.197435142G>CCA422809079CRB1c.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
1g.197435142G>TCA422809080CRB1c.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
1g.197435143C>ACA344046980CRB1c.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
1g.197435143C>GCA344046982CRB1c.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
1g.197435143C>TCA344046981CRB1c.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
1g.197435144A>CCA344046983CRB1c.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
1g.197435144A>GCA344046984CRB1c.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
1g.197435144A>TCA344046985CRB1c.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
1g.197435145delCA2649670642CRB1c.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
1g.197435145A=CA1218068811CRB1c.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=
1g.197435145A>CCA1312310CRB1c.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
1g.197435145A>GCA1312309CRB1c.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
1g.197435145A>TCA344046986CRB1c.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
1g.197435146G>ACA1312311CRB1c.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
1g.197435146G>CCA344046987CRB1c.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
1g.197435146G=CA1218068812CRB1c.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=
1g.197435146G>TCA344046988CRB1c.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
1g.197435147G>ACA1312312CRB1c.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
1g.197435147G>CCA344046989CRB1c.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
1g.197435147G=CA1218068813CRB1c.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=
1g.197435147G>TCA344046990CRB1c.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
1g.197435148G>ACA422809089CRB1c.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
1g.197435148G>CCA35907364CRB1c.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
1g.197435148G=CA1218068814CRB1c.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=
1g.197435148G>TCA422809092CRB1c.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
1g.197435149T>ACA344046992CRB1c.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
1g.197435149T>CCA344046993CRB1c.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
1g.197435149T>GCA344046991CRB1c.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
1g.197435150G>ACA344046994CRB1c.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
1g.197435150G>CCA344046995CRB1c.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
1g.197435150G>TCA344046996CRB1c.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
1g.197435151T>ACA344046997CRB1c.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
1g.197435151T>CCA422809095CRB1c.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
1g.197435151T>GCA344046998CRB1c.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
1g.197435152C>ACA344047000CRB1c.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
1g.197435152C=CA1218068815CRB1c.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=
1g.197435152C>GCA344046999CRB1c.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
1g.197435152C>TCA422809096CRB1c.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
1g.197435153T>ACA344047001CRB1c.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
1g.197435153T>CCA344047002CRB1c.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
1g.197435153T>GCA344047003CRB1c.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
1g.197435153dupCA2649670643CRB1c.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
1g.197435154A>CCA422809102CRB1c.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
1g.197435154A>GCA422809104CRB1c.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
1g.197435154A>TCA422809105CRB1c.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
1g.197435155delCA2580061938CRB1c.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
1g.197435155A>CCA344047004CRB1c.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
1g.197435155A>GCA344047005CRB1c.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
1g.197435155A>TCA344047006CRB1c.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
1g.197435156G>ACA344047007CRB1c.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
1g.197435156G>CCA344047009CRB1c.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
1g.197435156G=CA1218068816CRB1c.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=
1g.197435156G>TCA344047008CRB1c.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
1g.197435157T>ACA344047010CRB1c.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
1g.197435157T>CCA422809108CRB1c.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
1g.197435157T>GCA344047011CRB1c.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
1g.197435158A>CCA344047012CRB1c.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
1g.197435158A>GCA344047013CRB1c.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
1g.197435158A>TCA344047014CRB1c.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
1g.197435159C>ACA344047015CRB1c.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
1g.197435159C=CA1218068817CRB1c.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=
1g.197435159C>GCA344047016CRB1c.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
1g.197435159C>TCA344047017CRB1c.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
1g.197435160A>CCA422809112CRB1c.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
1g.197435160A>GCA422809113CRB1c.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
1g.197435160A>TCA422809114CRB1c.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
1g.197435161A=CA1218068818CRB1c.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=
1g.197435161A>CCA344047018CRB1c.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
1g.197435161A>GCA344047019CRB1c.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
1g.197435161A>TCA344047020CRB1c.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
1g.197435162T>ACA344047021CRB1c.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
1g.197435162T>CCA228035CRB1c.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
1g.197435162T>GCA117707CRB1c.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
1g.197435162T=CA1140762963CRB1c.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=
1g.197435163A=CA1218068819CRB1c.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=
1g.197435163A>CCA422809118CRB1c.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
1g.197435163A>GCA344047022CRB1c.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
1g.197435163A>TCA422809120CRB1c.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
1g.197435164G>ACA344047023CRB1c.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
1g.197435164G>CCA344047025CRB1c.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
1g.197435164G=CA1218068820CRB1c.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=
1g.197435164G>TCA344047024CRB1c.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
1g.197435165A>CCA344047026CRB1c.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
1g.197435165A>GCA344047027CRB1c.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
1g.197435165A>TCA344047028CRB1c.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
1g.197435166A>CCA344047029CRB1c.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
1g.197435166A>GCA422809125CRB1c.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
1g.197435166A>TCA344047030CRB1c.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
1g.197435167A=CA1218068821CRB1c.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=
1g.197435167A>CCA344047031CRB1c.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
1g.197435167A>GCA1312313CRB1c.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
1g.197435167A>TCA344047032CRB1c.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
1g.197435168T>ACA344047033CRB1c.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
1g.197435168T>CCA344047034CRB1c.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
1g.197435168T>GCA344047035CRB1c.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
1g.197435168T=CA1218068822CRB1c.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=
1g.197435169C>ACA422809132CRB1c.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
1g.197435169C=CA1144017568CRB1c.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=
1g.197435169C>GCA344047036CRB1c.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
1g.197435169C>TCA1312314CRB1c.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
1g.197435170G>ACA117711CRB1c.3307G>A (p.Gly1103Arg)
c.2188G>A (p.Gly730Arg)
c.1450G>A (p.Gly484Arg)
c.2971G>A (p.Gly991Arg)
c.3235G>A (p.Gly1079Arg)
c.2129-430G>A (n.2129-430G>A)
n.3308G>A
n.3516G>A
c.2725G>A (p.Gly909Arg)
c.1750G>A (p.Gly584Arg)
c.2464G>A (p.Gly822Arg)
c.3442G>A (p.Gly1148Arg)
n.3260G>A
n.3468G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.197435170G>CCA344047037CRB1c.3307G>C (p.Gly1103Arg)
c.2188G>C (p.Gly730Arg)
c.1450G>C (p.Gly484Arg)
c.2971G>C (p.Gly991Arg)
c.3235G>C (p.Gly1079Arg)
c.2129-430G>C (n.2129-430G>C)
n.3308G>C
n.3516G>C
c.2725G>C (p.Gly909Arg)
c.1750G>C (p.Gly584Arg)
c.2464G>C (p.Gly822Arg)
c.3442G>C (p.Gly1148Arg)
n.3260G>C
n.3468G>C
 COSMIC
1g.197435170G=CA1140762964CRB1c.3307G= (p.Gly1103=)
c.2188G= (p.Gly730=)
c.1450G= (p.Gly484=)
c.2971G= (p.Gly991=)
c.3235G= (p.Gly1079=)
c.2129-430G= (n.2129-430G=)
n.3308G=
n.3516G=
c.2725G= (p.Gly909=)
c.1750G= (p.Gly584=)
c.2464G= (p.Gly822=)
c.3442G= (p.Gly1148=)
n.3260G=
n.3468G=
1g.197435170G>TCA344047038CRB1c.3307G>T (p.Gly1103Ter)
c.2188G>T (p.Gly730Ter)
c.1450G>T (p.Gly484Ter)
c.2971G>T (p.Gly991Ter)
c.3235G>T (p.Gly1079Ter)
c.2129-430G>T (n.2129-430G>T)
n.3308G>T
n.3516G>T
c.2725G>T (p.Gly909Ter)
c.1750G>T (p.Gly584Ter)
c.2464G>T (p.Gly822Ter)
c.3442G>T (p.Gly1148Ter)
n.3260G>T
n.3468G>T

Number of alleles fetched