Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.197429461C>ACA344040389CRB1c.2689C>A (p.His897Asn)
c.1570C>A (p.His524Asn)
c.832C>A (p.His278Asn)
c.2353C>A (p.His785Asn)
c.2617C>A (p.His873Asn)
c.2129-6139C>A (n.2129-6139C>A)
n.2690C>A
n.2898C>A
c.2107C>A (p.His703Asn)
c.1132C>A (p.His378Asn)
c.1846C>A (p.His616Asn)
c.2824C>A (p.His942Asn)
n.2642C>A
n.2850C>A
 gnomAD v4
1g.197429461C=CA1218065483CRB1c.2689C= (p.His897=)
c.1570C= (p.His524=)
c.832C= (p.His278=)
c.2353C= (p.His785=)
c.2617C= (p.His873=)
c.2129-6139C= (n.2129-6139C=)
n.2690C=
n.2898C=
c.2107C= (p.His703=)
c.1132C= (p.His378=)
c.1846C= (p.His616=)
c.2824C= (p.His942=)
n.2642C=
n.2850C=
1g.197429461C>GCA344040387CRB1c.2689C>G (p.His897Asp)
c.1570C>G (p.His524Asp)
c.832C>G (p.His278Asp)
c.2353C>G (p.His785Asp)
c.2617C>G (p.His873Asp)
c.2129-6139C>G (n.2129-6139C>G)
n.2690C>G
n.2898C>G
c.2107C>G (p.His703Asp)
c.1132C>G (p.His378Asp)
c.1846C>G (p.His616Asp)
c.2824C>G (p.His942Asp)
n.2642C>G
n.2850C>G
1g.197429461C>TCA344040388CRB1c.2689C>T (p.His897Tyr)
c.1570C>T (p.His524Tyr)
c.832C>T (p.His278Tyr)
c.2353C>T (p.His785Tyr)
c.2617C>T (p.His873Tyr)
c.2129-6139C>T (n.2129-6139C>T)
n.2690C>T
n.2898C>T
c.2107C>T (p.His703Tyr)
c.1132C>T (p.His378Tyr)
c.1846C>T (p.His616Tyr)
c.2824C>T (p.His942Tyr)
n.2642C>T
n.2850C>T
 dbSNP gnomAD v3 gnomAD v4
1g.197429462A>CCA344040392CRB1c.2690A>C (p.His897Pro)
c.1571A>C (p.His524Pro)
c.833A>C (p.His278Pro)
c.2354A>C (p.His785Pro)
c.2618A>C (p.His873Pro)
c.2129-6138A>C (n.2129-6138A>C)
n.2691A>C
n.2899A>C
c.2108A>C (p.His703Pro)
c.1133A>C (p.His378Pro)
c.1847A>C (p.His616Pro)
c.2825A>C (p.His942Pro)
n.2643A>C
n.2851A>C
1g.197429462A>GCA344040394CRB1c.2690A>G (p.His897Arg)
c.1571A>G (p.His524Arg)
c.833A>G (p.His278Arg)
c.2354A>G (p.His785Arg)
c.2618A>G (p.His873Arg)
c.2129-6138A>G (n.2129-6138A>G)
n.2691A>G
n.2899A>G
c.2108A>G (p.His703Arg)
c.1133A>G (p.His378Arg)
c.1847A>G (p.His616Arg)
c.2825A>G (p.His942Arg)
n.2643A>G
n.2851A>G
1g.197429462A>TCA344040395CRB1c.2690A>T (p.His897Leu)
c.1571A>T (p.His524Leu)
c.833A>T (p.His278Leu)
c.2354A>T (p.His785Leu)
c.2618A>T (p.His873Leu)
c.2129-6138A>T (n.2129-6138A>T)
n.2691A>T
n.2899A>T
c.2108A>T (p.His703Leu)
c.1133A>T (p.His378Leu)
c.1847A>T (p.His616Leu)
c.2825A>T (p.His942Leu)
n.2643A>T
n.2851A>T
1g.197429463C>ACA344040398CRB1c.2691C>A (p.His897Gln)
c.1572C>A (p.His524Gln)
c.834C>A (p.His278Gln)
c.2355C>A (p.His785Gln)
c.2619C>A (p.His873Gln)
c.2129-6137C>A (n.2129-6137C>A)
n.2692C>A
n.2900C>A
c.2109C>A (p.His703Gln)
c.1134C>A (p.His378Gln)
c.1848C>A (p.His616Gln)
c.2826C>A (p.His942Gln)
n.2644C>A
n.2852C>A
1g.197429463C=CA1218065486CRB1c.2691C= (p.His897=)
c.1572C= (p.His524=)
c.834C= (p.His278=)
c.2355C= (p.His785=)
c.2619C= (p.His873=)
c.2129-6137C= (n.2129-6137C=)
n.2692C=
n.2900C=
c.2109C= (p.His703=)
c.1134C= (p.His378=)
c.1848C= (p.His616=)
c.2826C= (p.His942=)
n.2644C=
n.2852C=
1g.197429463C>GCA344040399CRB1c.2691C>G (p.His897Gln)
c.1572C>G (p.His524Gln)
c.834C>G (p.His278Gln)
c.2355C>G (p.His785Gln)
c.2619C>G (p.His873Gln)
c.2129-6137C>G (n.2129-6137C>G)
n.2692C>G
n.2900C>G
c.2109C>G (p.His703Gln)
c.1134C>G (p.His378Gln)
c.1848C>G (p.His616Gln)
c.2826C>G (p.His942Gln)
n.2644C>G
n.2852C>G
1g.197429463C>TCA422672256CRB1c.2691C>T (p.His897=)
c.1572C>T (p.His524=)
c.834C>T (p.His278=)
c.2355C>T (p.His785=)
c.2619C>T (p.His873=)
c.2129-6137C>T (n.2129-6137C>T)
n.2692C>T
n.2900C>T
c.2109C>T (p.His703=)
c.1134C>T (p.His378=)
c.1848C>T (p.His616=)
c.2826C>T (p.His942=)
n.2644C>T
n.2852C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.197429464A>CCA344040404CRB1c.2692A>C (p.Asn898His)
c.1573A>C (p.Asn525His)
c.835A>C (p.Asn279His)
c.2356A>C (p.Asn786His)
c.2620A>C (p.Asn874His)
c.2129-6136A>C (n.2129-6136A>C)
n.2693A>C
n.2901A>C
c.2110A>C (p.Asn704His)
c.1135A>C (p.Asn379His)
c.1849A>C (p.Asn617His)
c.2827A>C (p.Asn943His)
n.2645A>C
n.2853A>C
 gnomAD v4
1g.197429464A>GCA344040401CRB1c.2692A>G (p.Asn898Asp)
c.1573A>G (p.Asn525Asp)
c.835A>G (p.Asn279Asp)
c.2356A>G (p.Asn786Asp)
c.2620A>G (p.Asn874Asp)
c.2129-6136A>G (n.2129-6136A>G)
n.2693A>G
n.2901A>G
c.2110A>G (p.Asn704Asp)
c.1135A>G (p.Asn379Asp)
c.1849A>G (p.Asn617Asp)
c.2827A>G (p.Asn943Asp)
n.2645A>G
n.2853A>G
1g.197429464A>TCA344040402CRB1c.2692A>T (p.Asn898Tyr)
c.1573A>T (p.Asn525Tyr)
c.835A>T (p.Asn279Tyr)
c.2356A>T (p.Asn786Tyr)
c.2620A>T (p.Asn874Tyr)
c.2129-6136A>T (n.2129-6136A>T)
n.2693A>T
n.2901A>T
c.2110A>T (p.Asn704Tyr)
c.1135A>T (p.Asn379Tyr)
c.1849A>T (p.Asn617Tyr)
c.2827A>T (p.Asn943Tyr)
n.2645A>T
n.2853A>T
1g.197429465A=CA1218065492CRB1c.2693A= (p.Asn898=)
c.1574A= (p.Asn525=)
c.836A= (p.Asn279=)
c.2357A= (p.Asn786=)
c.2621A= (p.Asn874=)
c.2129-6135A= (n.2129-6135A=)
n.2694A=
n.2902A=
c.2111A= (p.Asn704=)
c.1136A= (p.Asn379=)
c.1850A= (p.Asn617=)
c.2828A= (p.Asn943=)
n.2646A=
n.2854A=
1g.197429465A>CCA344040406CRB1c.2693A>C (p.Asn898Thr)
c.1574A>C (p.Asn525Thr)
c.836A>C (p.Asn279Thr)
c.2357A>C (p.Asn786Thr)
c.2621A>C (p.Asn874Thr)
c.2129-6135A>C (n.2129-6135A>C)
n.2694A>C
n.2902A>C
c.2111A>C (p.Asn704Thr)
c.1136A>C (p.Asn379Thr)
c.1850A>C (p.Asn617Thr)
c.2828A>C (p.Asn943Thr)
n.2646A>C
n.2854A>C
1g.197429465A>GCA1312193CRB1c.2693A>G (p.Asn898Ser)
c.1574A>G (p.Asn525Ser)
c.836A>G (p.Asn279Ser)
c.2357A>G (p.Asn786Ser)
c.2621A>G (p.Asn874Ser)
c.2129-6135A>G (n.2129-6135A>G)
n.2694A>G
n.2902A>G
c.2111A>G (p.Asn704Ser)
c.1136A>G (p.Asn379Ser)
c.1850A>G (p.Asn617Ser)
c.2828A>G (p.Asn943Ser)
n.2646A>G
n.2854A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.197429465A>TCA344040409CRB1c.2693A>T (p.Asn898Ile)
c.1574A>T (p.Asn525Ile)
c.836A>T (p.Asn279Ile)
c.2357A>T (p.Asn786Ile)
c.2621A>T (p.Asn874Ile)
c.2129-6135A>T (n.2129-6135A>T)
n.2694A>T
n.2902A>T
c.2111A>T (p.Asn704Ile)
c.1136A>T (p.Asn379Ile)
c.1850A>T (p.Asn617Ile)
c.2828A>T (p.Asn943Ile)
n.2646A>T
n.2854A>T
1g.197429466T>ACA344040411CRB1c.2694T>A (p.Asn898Lys)
c.1575T>A (p.Asn525Lys)
c.837T>A (p.Asn279Lys)
c.2358T>A (p.Asn786Lys)
c.2622T>A (p.Asn874Lys)
c.2129-6134T>A (n.2129-6134T>A)
n.2695T>A
n.2903T>A
c.2112T>A (p.Asn704Lys)
c.1137T>A (p.Asn379Lys)
c.1851T>A (p.Asn617Lys)
c.2829T>A (p.Asn943Lys)
n.2647T>A
n.2855T>A
1g.197429466T>CCA422672257CRB1c.2694T>C (p.Asn898=)
c.1575T>C (p.Asn525=)
c.837T>C (p.Asn279=)
c.2358T>C (p.Asn786=)
c.2622T>C (p.Asn874=)
c.2129-6134T>C (n.2129-6134T>C)
n.2695T>C
n.2903T>C
c.2112T>C (p.Asn704=)
c.1137T>C (p.Asn379=)
c.1851T>C (p.Asn617=)
c.2829T>C (p.Asn943=)
n.2647T>C
n.2855T>C
1g.197429466T>GCA344040419CRB1c.2694T>G (p.Asn898Lys)
c.1575T>G (p.Asn525Lys)
c.837T>G (p.Asn279Lys)
c.2358T>G (p.Asn786Lys)
c.2622T>G (p.Asn874Lys)
c.2129-6134T>G (n.2129-6134T>G)
n.2695T>G
n.2903T>G
c.2112T>G (p.Asn704Lys)
c.1137T>G (p.Asn379Lys)
c.1851T>G (p.Asn617Lys)
c.2829T>G (p.Asn943Lys)
n.2647T>G
n.2855T>G
 ClinVar dbSNP gnomAD v4
1g.197429467G>ACA344040422CRB1c.2695G>A (p.Gly899Arg)
c.1576G>A (p.Gly526Arg)
c.838G>A (p.Gly280Arg)
c.2359G>A (p.Gly787Arg)
c.2623G>A (p.Gly875Arg)
c.2129-6133G>A (n.2129-6133G>A)
n.2696G>A
n.2904G>A
c.2113G>A (p.Gly705Arg)
c.1138G>A (p.Gly380Arg)
c.1852G>A (p.Gly618Arg)
c.2830G>A (p.Gly944Arg)
n.2648G>A
n.2856G>A
 ClinVar COSMIC
1g.197429467G>CCA344040425CRB1c.2695G>C (p.Gly899Arg)
c.1576G>C (p.Gly526Arg)
c.838G>C (p.Gly280Arg)
c.2359G>C (p.Gly787Arg)
c.2623G>C (p.Gly875Arg)
c.2129-6133G>C (n.2129-6133G>C)
n.2696G>C
n.2904G>C
c.2113G>C (p.Gly705Arg)
c.1138G>C (p.Gly380Arg)
c.1852G>C (p.Gly618Arg)
c.2830G>C (p.Gly944Arg)
n.2648G>C
n.2856G>C
1g.197429467G>TCA344040423CRB1c.2695G>T (p.Gly899Ter)
c.1576G>T (p.Gly526Ter)
c.838G>T (p.Gly280Ter)
c.2359G>T (p.Gly787Ter)
c.2623G>T (p.Gly875Ter)
c.2129-6133G>T (n.2129-6133G>T)
n.2696G>T
n.2904G>T
c.2113G>T (p.Gly705Ter)
c.1138G>T (p.Gly380Ter)
c.1852G>T (p.Gly618Ter)
c.2830G>T (p.Gly944Ter)
n.2648G>T
n.2856G>T
1g.197429468G>ACA344040427CRB1c.2696G>A (p.Gly899Glu)
c.1577G>A (p.Gly526Glu)
c.839G>A (p.Gly280Glu)
c.2360G>A (p.Gly787Glu)
c.2624G>A (p.Gly875Glu)
c.2129-6132G>A (n.2129-6132G>A)
n.2697G>A
n.2905G>A
c.2114G>A (p.Gly705Glu)
c.1139G>A (p.Gly380Glu)
c.1853G>A (p.Gly618Glu)
c.2831G>A (p.Gly944Glu)
n.2649G>A
n.2857G>A
 dbSNP gnomAD v2
1g.197429468G>CCA344040428CRB1c.2696G>C (p.Gly899Ala)
c.1577G>C (p.Gly526Ala)
c.839G>C (p.Gly280Ala)
c.2360G>C (p.Gly787Ala)
c.2624G>C (p.Gly875Ala)
c.2129-6132G>C (n.2129-6132G>C)
n.2697G>C
n.2905G>C
c.2114G>C (p.Gly705Ala)
c.1139G>C (p.Gly380Ala)
c.1853G>C (p.Gly618Ala)
c.2831G>C (p.Gly944Ala)
n.2649G>C
n.2857G>C
 ClinVar gnomAD v4
1g.197429468G=CA1218065505CRB1c.2696G= (p.Gly899=)
c.1577G= (p.Gly526=)
c.839G= (p.Gly280=)
c.2360G= (p.Gly787=)
c.2624G= (p.Gly875=)
c.2129-6132G= (n.2129-6132G=)
n.2697G=
n.2905G=
c.2114G= (p.Gly705=)
c.1139G= (p.Gly380=)
c.1853G= (p.Gly618=)
c.2831G= (p.Gly944=)
n.2649G=
n.2857G=
1g.197429468G>TCA344040429CRB1c.2696G>T (p.Gly899Val)
c.1577G>T (p.Gly526Val)
c.839G>T (p.Gly280Val)
c.2360G>T (p.Gly787Val)
c.2624G>T (p.Gly875Val)
c.2129-6132G>T (n.2129-6132G>T)
n.2697G>T
n.2905G>T
c.2114G>T (p.Gly705Val)
c.1139G>T (p.Gly380Val)
c.1853G>T (p.Gly618Val)
c.2831G>T (p.Gly944Val)
n.2649G>T
n.2857G>T
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
1g.197429469A>CCA422672260CRB1c.2697A>C (p.Gly899=)
c.1578A>C (p.Gly526=)
c.840A>C (p.Gly280=)
c.2361A>C (p.Gly787=)
c.2625A>C (p.Gly875=)
c.2129-6131A>C (n.2129-6131A>C)
n.2698A>C
n.2906A>C
c.2115A>C (p.Gly705=)
c.1140A>C (p.Gly380=)
c.1854A>C (p.Gly618=)
c.2832A>C (p.Gly944=)
n.2650A>C
n.2858A>C
1g.197429469A>GCA422672258CRB1c.2697A>G (p.Gly899=)
c.1578A>G (p.Gly526=)
c.840A>G (p.Gly280=)
c.2361A>G (p.Gly787=)
c.2625A>G (p.Gly875=)
c.2129-6131A>G (n.2129-6131A>G)
n.2698A>G
n.2906A>G
c.2115A>G (p.Gly705=)
c.1140A>G (p.Gly380=)
c.1854A>G (p.Gly618=)
c.2832A>G (p.Gly944=)
n.2650A>G
n.2858A>G
1g.197429469A>TCA422672259CRB1c.2697A>T (p.Gly899=)
c.1578A>T (p.Gly526=)
c.840A>T (p.Gly280=)
c.2361A>T (p.Gly787=)
c.2625A>T (p.Gly875=)
c.2129-6131A>T (n.2129-6131A>T)
n.2698A>T
n.2906A>T
c.2115A>T (p.Gly705=)
c.1140A>T (p.Gly380=)
c.1854A>T (p.Gly618=)
c.2832A>T (p.Gly944=)
n.2650A>T
n.2858A>T
1g.197429470G>ACA344040430CRB1c.2698G>A (p.Gly900Ser)
c.1579G>A (p.Gly527Ser)
c.841G>A (p.Gly281Ser)
c.2362G>A (p.Gly788Ser)
c.2626G>A (p.Gly876Ser)
c.2129-6130G>A (n.2129-6130G>A)
n.2699G>A
n.2907G>A
c.2116G>A (p.Gly706Ser)
c.1141G>A (p.Gly381Ser)
c.1855G>A (p.Gly619Ser)
c.2833G>A (p.Gly945Ser)
n.2651G>A
n.2859G>A
 ClinVar dbSNP
1g.197429470G>CCA344040431CRB1c.2698G>C (p.Gly900Arg)
c.1579G>C (p.Gly527Arg)
c.841G>C (p.Gly281Arg)
c.2362G>C (p.Gly788Arg)
c.2626G>C (p.Gly876Arg)
c.2129-6130G>C (n.2129-6130G>C)
n.2699G>C
n.2907G>C
c.2116G>C (p.Gly706Arg)
c.1141G>C (p.Gly381Arg)
c.1855G>C (p.Gly619Arg)
c.2833G>C (p.Gly945Arg)
n.2651G>C
n.2859G>C
1g.197429470G>TCA344040432CRB1c.2698G>T (p.Gly900Cys)
c.1579G>T (p.Gly527Cys)
c.841G>T (p.Gly281Cys)
c.2362G>T (p.Gly788Cys)
c.2626G>T (p.Gly876Cys)
c.2129-6130G>T (n.2129-6130G>T)
n.2699G>T
n.2907G>T
c.2116G>T (p.Gly706Cys)
c.1141G>T (p.Gly381Cys)
c.1855G>T (p.Gly619Cys)
c.2833G>T (p.Gly945Cys)
n.2651G>T
n.2859G>T
 COSMIC COSMIC
1g.197429471G>ACA344040433CRB1c.2699G>A (p.Gly900Asp)
c.1580G>A (p.Gly527Asp)
c.842G>A (p.Gly281Asp)
c.2363G>A (p.Gly788Asp)
c.2627G>A (p.Gly876Asp)
c.2129-6129G>A (n.2129-6129G>A)
n.2700G>A
n.2908G>A
c.2117G>A (p.Gly706Asp)
c.1142G>A (p.Gly381Asp)
c.1856G>A (p.Gly619Asp)
c.2834G>A (p.Gly945Asp)
n.2652G>A
n.2860G>A
1g.197429471G>CCA344040435CRB1c.2699G>C (p.Gly900Ala)
c.1580G>C (p.Gly527Ala)
c.842G>C (p.Gly281Ala)
c.2363G>C (p.Gly788Ala)
c.2627G>C (p.Gly876Ala)
c.2129-6129G>C (n.2129-6129G>C)
n.2700G>C
n.2908G>C
c.2117G>C (p.Gly706Ala)
c.1142G>C (p.Gly381Ala)
c.1856G>C (p.Gly619Ala)
c.2834G>C (p.Gly945Ala)
n.2652G>C
n.2860G>C
1g.197429471G>TCA344040436CRB1c.2699G>T (p.Gly900Val)
c.1580G>T (p.Gly527Val)
c.842G>T (p.Gly281Val)
c.2363G>T (p.Gly788Val)
c.2627G>T (p.Gly876Val)
c.2129-6129G>T (n.2129-6129G>T)
n.2700G>T
n.2908G>T
c.2117G>T (p.Gly706Val)
c.1142G>T (p.Gly381Val)
c.1856G>T (p.Gly619Val)
c.2834G>T (p.Gly945Val)
n.2652G>T
n.2860G>T
 COSMIC COSMIC
1g.197429472T>ACA422672261CRB1c.2700T>A (p.Gly900=)
c.1581T>A (p.Gly527=)
c.843T>A (p.Gly281=)
c.2364T>A (p.Gly788=)
c.2628T>A (p.Gly876=)
c.2129-6128T>A (n.2129-6128T>A)
n.2701T>A
n.2909T>A
c.2118T>A (p.Gly706=)
c.1143T>A (p.Gly381=)
c.1857T>A (p.Gly619=)
c.2835T>A (p.Gly945=)
n.2653T>A
n.2861T>A
1g.197429472T>CCA422672262CRB1c.2700T>C (p.Gly900=)
c.1581T>C (p.Gly527=)
c.843T>C (p.Gly281=)
c.2364T>C (p.Gly788=)
c.2628T>C (p.Gly876=)
c.2129-6128T>C (n.2129-6128T>C)
n.2701T>C
n.2909T>C
c.2118T>C (p.Gly706=)
c.1143T>C (p.Gly381=)
c.1857T>C (p.Gly619=)
c.2835T>C (p.Gly945=)
n.2653T>C
n.2861T>C
 gnomAD v4
1g.197429472T>GCA422672263CRB1c.2700T>G (p.Gly900=)
c.1581T>G (p.Gly527=)
c.843T>G (p.Gly281=)
c.2364T>G (p.Gly788=)
c.2628T>G (p.Gly876=)
c.2129-6128T>G (n.2129-6128T>G)
n.2701T>G
n.2909T>G
c.2118T>G (p.Gly706=)
c.1143T>G (p.Gly381=)
c.1857T>G (p.Gly619=)
c.2835T>G (p.Gly945=)
n.2653T>G
n.2861T>G
1g.197429473G>ACA344040439CRB1c.2701G>A (p.Val901Ile)
c.1582G>A (p.Val528Ile)
c.844G>A (p.Val282Ile)
c.2365G>A (p.Val789Ile)
c.2629G>A (p.Val877Ile)
c.2129-6127G>A (n.2129-6127G>A)
n.2702G>A
n.2910G>A
c.2119G>A (p.Val707Ile)
c.1144G>A (p.Val382Ile)
c.1858G>A (p.Val620Ile)
c.2836G>A (p.Val946Ile)
n.2654G>A
n.2862G>A
 gnomAD v4
1g.197429473G>CCA344040441CRB1c.2701G>C (p.Val901Leu)
c.1582G>C (p.Val528Leu)
c.844G>C (p.Val282Leu)
c.2365G>C (p.Val789Leu)
c.2629G>C (p.Val877Leu)
c.2129-6127G>C (n.2129-6127G>C)
n.2702G>C
n.2910G>C
c.2119G>C (p.Val707Leu)
c.1144G>C (p.Val382Leu)
c.1858G>C (p.Val620Leu)
c.2836G>C (p.Val946Leu)
n.2654G>C
n.2862G>C
1g.197429473G=CA1218065521CRB1c.2701G= (p.Val901=)
c.1582G= (p.Val528=)
c.844G= (p.Val282=)
c.2365G= (p.Val789=)
c.2629G= (p.Val877=)
c.2129-6127G= (n.2129-6127G=)
n.2702G=
n.2910G=
c.2119G= (p.Val707=)
c.1144G= (p.Val382=)
c.1858G= (p.Val620=)
c.2836G= (p.Val946=)
n.2654G=
n.2862G=
1g.197429473G>TCA344040443CRB1c.2701G>T (p.Val901Phe)
c.1582G>T (p.Val528Phe)
c.844G>T (p.Val282Phe)
c.2365G>T (p.Val789Phe)
c.2629G>T (p.Val877Phe)
c.2129-6127G>T (n.2129-6127G>T)
n.2702G>T
n.2910G>T
c.2119G>T (p.Val707Phe)
c.1144G>T (p.Val382Phe)
c.1858G>T (p.Val620Phe)
c.2836G>T (p.Val946Phe)
n.2654G>T
n.2862G>T
 ClinVar dbSNP gnomAD v4
1g.197429473_197429474delinsGTCA1218065519CRB1c.2701_2702delinsGT (p.Val901=)
c.1582_1583delinsGT (p.Val528=)
c.844_845delinsGT (p.Val282=)
c.2365_2366delinsGT (p.Val789=)
c.2629_2630delinsGT (p.Val877=)
c.2129-6127_2129-6126delinsGT (n.2129-6127_2129-6126delinsGT)
n.2702_2703delinsGT
n.2910_2911delinsGT
c.2119_2120delinsGT (p.Val707=)
c.1144_1145delinsGT (p.Val382=)
c.1858_1859delinsGT (p.Val620=)
c.2836_2837delinsGT (p.Val946=)
n.2654_2655delinsGT
n.2862_2863delinsGT
1g.197429474T>ACA344040449CRB1c.2702T>A (p.Val901Asp)
c.1583T>A (p.Val528Asp)
c.845T>A (p.Val282Asp)
c.2366T>A (p.Val789Asp)
c.2630T>A (p.Val877Asp)
c.2129-6126T>A (n.2129-6126T>A)
n.2703T>A
n.2911T>A
c.2120T>A (p.Val707Asp)
c.1145T>A (p.Val382Asp)
c.1859T>A (p.Val620Asp)
c.2837T>A (p.Val946Asp)
n.2655T>A
n.2863T>A
 dbSNP
1g.197429474T>CCA344040446CRB1c.2702T>C (p.Val901Ala)
c.1583T>C (p.Val528Ala)
c.845T>C (p.Val282Ala)
c.2366T>C (p.Val789Ala)
c.2630T>C (p.Val877Ala)
c.2129-6126T>C (n.2129-6126T>C)
n.2703T>C
n.2911T>C
c.2120T>C (p.Val707Ala)
c.1145T>C (p.Val382Ala)
c.1859T>C (p.Val620Ala)
c.2837T>C (p.Val946Ala)
n.2655T>C
n.2863T>C
 gnomAD v4
1g.197429474T>GCA344040447CRB1c.2702T>G (p.Val901Gly)
c.1583T>G (p.Val528Gly)
c.845T>G (p.Val282Gly)
c.2366T>G (p.Val789Gly)
c.2630T>G (p.Val877Gly)
c.2129-6126T>G (n.2129-6126T>G)
n.2703T>G
n.2911T>G
c.2120T>G (p.Val707Gly)
c.1145T>G (p.Val382Gly)
c.1859T>G (p.Val620Gly)
c.2837T>G (p.Val946Gly)
n.2655T>G
n.2863T>G
1g.197429474T=CA1218065529CRB1c.2702T= (p.Val901=)
c.1583T= (p.Val528=)
c.845T= (p.Val282=)
c.2366T= (p.Val789=)
c.2630T= (p.Val877=)
c.2129-6126T= (n.2129-6126T=)
n.2703T=
n.2911T=
c.2120T= (p.Val707=)
c.1145T= (p.Val382=)
c.1859T= (p.Val620=)
c.2837T= (p.Val946=)
n.2655T=
n.2863T=
1g.197429476delCA1010910297CRB1c.2704del (p.Cys902AlafsTer?)
c.1585del (p.Cys529AlafsTer?)
c.847del (p.Cys283AlafsTer?)
c.2368del (p.Cys790AlafsTer?)
c.2632del (p.Cys878AlafsTer?)
c.2129-6124del (n.2129-6124del)
n.2705del
n.2913del
c.2122del (p.Cys708AlafsTer?)
c.1147del (p.Cys383AlafsTer?)
c.1861del (p.Cys621AlafsTer?)
c.2839del (p.Cys947AlafsTer?)
n.2657del
n.2865del
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.197429475T>ACA422672266CRB1c.2703T>A (p.Val901=)
c.1584T>A (p.Val528=)
c.846T>A (p.Val282=)
c.2367T>A (p.Val789=)
c.2631T>A (p.Val877=)
c.2129-6125T>A (n.2129-6125T>A)
n.2704T>A
n.2912T>A
c.2121T>A (p.Val707=)
c.1146T>A (p.Val382=)
c.1860T>A (p.Val620=)
c.2838T>A (p.Val946=)
n.2656T>A
n.2864T>A
 ClinVar dbSNP
1g.197429475T>CCA422672264CRB1c.2703T>C (p.Val901=)
c.1584T>C (p.Val528=)
c.846T>C (p.Val282=)
c.2367T>C (p.Val789=)
c.2631T>C (p.Val877=)
c.2129-6125T>C (n.2129-6125T>C)
n.2704T>C
n.2912T>C
c.2121T>C (p.Val707=)
c.1146T>C (p.Val382=)
c.1860T>C (p.Val620=)
c.2838T>C (p.Val946=)
n.2656T>C
n.2864T>C
 ClinVar
1g.197429475T>GCA422672265CRB1c.2703T>G (p.Val901=)
c.1584T>G (p.Val528=)
c.846T>G (p.Val282=)
c.2367T>G (p.Val789=)
c.2631T>G (p.Val877=)
c.2129-6125T>G (n.2129-6125T>G)
n.2704T>G
n.2912T>G
c.2121T>G (p.Val707=)
c.1146T>G (p.Val382=)
c.1860T>G (p.Val620=)
c.2838T>G (p.Val946=)
n.2656T>G
n.2864T>G
1g.197429476T>ACA344040452CRB1c.2704T>A (p.Cys902Ser)
c.1585T>A (p.Cys529Ser)
c.847T>A (p.Cys283Ser)
c.2368T>A (p.Cys790Ser)
c.2632T>A (p.Cys878Ser)
c.2129-6124T>A (n.2129-6124T>A)
n.2705T>A
n.2913T>A
c.2122T>A (p.Cys708Ser)
c.1147T>A (p.Cys383Ser)
c.1861T>A (p.Cys621Ser)
c.2839T>A (p.Cys947Ser)
n.2657T>A
n.2865T>A
1g.197429476T>CCA344040456CRB1c.2704T>C (p.Cys902Arg)
c.1585T>C (p.Cys529Arg)
c.847T>C (p.Cys283Arg)
c.2368T>C (p.Cys790Arg)
c.2632T>C (p.Cys878Arg)
c.2129-6124T>C (n.2129-6124T>C)
n.2705T>C
n.2913T>C
c.2122T>C (p.Cys708Arg)
c.1147T>C (p.Cys383Arg)
c.1861T>C (p.Cys621Arg)
c.2839T>C (p.Cys947Arg)
n.2657T>C
n.2865T>C
1g.197429476T>GCA344040457CRB1c.2704T>G (p.Cys902Gly)
c.1585T>G (p.Cys529Gly)
c.847T>G (p.Cys283Gly)
c.2368T>G (p.Cys790Gly)
c.2632T>G (p.Cys878Gly)
c.2129-6124T>G (n.2129-6124T>G)
n.2705T>G
n.2913T>G
c.2122T>G (p.Cys708Gly)
c.1147T>G (p.Cys383Gly)
c.1861T>G (p.Cys621Gly)
c.2839T>G (p.Cys947Gly)
n.2657T>G
n.2865T>G
1g.197429477G>ACA344040460CRB1c.2705G>A (p.Cys902Tyr)
c.1586G>A (p.Cys529Tyr)
c.848G>A (p.Cys283Tyr)
c.2369G>A (p.Cys790Tyr)
c.2633G>A (p.Cys878Tyr)
c.2129-6123G>A (n.2129-6123G>A)
n.2706G>A
n.2914G>A
c.2123G>A (p.Cys708Tyr)
c.1148G>A (p.Cys383Tyr)
c.1862G>A (p.Cys621Tyr)
c.2840G>A (p.Cys947Tyr)
n.2658G>A
n.2866G>A
1g.197429477G>CCA344040463CRB1c.2705G>C (p.Cys902Ser)
c.1586G>C (p.Cys529Ser)
c.848G>C (p.Cys283Ser)
c.2369G>C (p.Cys790Ser)
c.2633G>C (p.Cys878Ser)
c.2129-6123G>C (n.2129-6123G>C)
n.2706G>C
n.2914G>C
c.2123G>C (p.Cys708Ser)
c.1148G>C (p.Cys383Ser)
c.1862G>C (p.Cys621Ser)
c.2840G>C (p.Cys947Ser)
n.2658G>C
n.2866G>C
1g.197429477G>TCA344040465CRB1c.2705G>T (p.Cys902Phe)
c.1586G>T (p.Cys529Phe)
c.848G>T (p.Cys283Phe)
c.2369G>T (p.Cys790Phe)
c.2633G>T (p.Cys878Phe)
c.2129-6123G>T (n.2129-6123G>T)
n.2706G>T
n.2914G>T
c.2123G>T (p.Cys708Phe)
c.1148G>T (p.Cys383Phe)
c.1862G>T (p.Cys621Phe)
c.2840G>T (p.Cys947Phe)
n.2658G>T
n.2866G>T
 COSMIC COSMIC
1g.197429478C>ACA344040466CRB1c.2706C>A (p.Cys902Ter)
c.1587C>A (p.Cys529Ter)
c.849C>A (p.Cys283Ter)
c.2370C>A (p.Cys790Ter)
c.2634C>A (p.Cys878Ter)
c.2129-6122C>A (n.2129-6122C>A)
n.2707C>A
n.2915C>A
c.2124C>A (p.Cys708Ter)
c.1149C>A (p.Cys383Ter)
c.1863C>A (p.Cys621Ter)
c.2841C>A (p.Cys947Ter)
n.2659C>A
n.2867C>A
1g.197429478C>GCA344040468CRB1c.2706C>G (p.Cys902Trp)
c.1587C>G (p.Cys529Trp)
c.849C>G (p.Cys283Trp)
c.2370C>G (p.Cys790Trp)
c.2634C>G (p.Cys878Trp)
c.2129-6122C>G (n.2129-6122C>G)
n.2707C>G
n.2915C>G
c.2124C>G (p.Cys708Trp)
c.1149C>G (p.Cys383Trp)
c.1863C>G (p.Cys621Trp)
c.2841C>G (p.Cys947Trp)
n.2659C>G
n.2867C>G
 gnomAD v4
1g.197429478C>TCA422672267CRB1c.2706C>T (p.Cys902=)
c.1587C>T (p.Cys529=)
c.849C>T (p.Cys283=)
c.2370C>T (p.Cys790=)
c.2634C>T (p.Cys878=)
c.2129-6122C>T (n.2129-6122C>T)
n.2707C>T
n.2915C>T
c.2124C>T (p.Cys708=)
c.1149C>T (p.Cys383=)
c.1863C>T (p.Cys621=)
c.2841C>T (p.Cys947=)
n.2659C>T
n.2867C>T
1g.197429479C>ACA344040470CRB1c.2707C>A (p.His903Asn)
c.1588C>A (p.His530Asn)
c.850C>A (p.His284Asn)
c.2371C>A (p.His791Asn)
c.2635C>A (p.His879Asn)
c.2129-6121C>A (n.2129-6121C>A)
n.2708C>A
n.2916C>A
c.2125C>A (p.His709Asn)
c.1150C>A (p.His384Asn)
c.1864C>A (p.His622Asn)
c.2842C>A (p.His948Asn)
n.2660C>A
n.2868C>A
 COSMIC
1g.197429479C=CA1218065534CRB1c.2707C= (p.His903=)
c.1588C= (p.His530=)
c.850C= (p.His284=)
c.2371C= (p.His791=)
c.2635C= (p.His879=)
c.2129-6121C= (n.2129-6121C=)
n.2708C=
n.2916C=
c.2125C= (p.His709=)
c.1150C= (p.His384=)
c.1864C= (p.His622=)
c.2842C= (p.His948=)
n.2660C=
n.2868C=
1g.197429479C>GCA344040472CRB1c.2707C>G (p.His903Asp)
c.1588C>G (p.His530Asp)
c.850C>G (p.His284Asp)
c.2371C>G (p.His791Asp)
c.2635C>G (p.His879Asp)
c.2129-6121C>G (n.2129-6121C>G)
n.2708C>G
n.2916C>G
c.2125C>G (p.His709Asp)
c.1150C>G (p.His384Asp)
c.1864C>G (p.His622Asp)
c.2842C>G (p.His948Asp)
n.2660C>G
n.2868C>G
1g.197429479C>TCA344040474CRB1c.2707C>T (p.His903Tyr)
c.1588C>T (p.His530Tyr)
c.850C>T (p.His284Tyr)
c.2371C>T (p.His791Tyr)
c.2635C>T (p.His879Tyr)
c.2129-6121C>T (n.2129-6121C>T)
n.2708C>T
n.2916C>T
c.2125C>T (p.His709Tyr)
c.1150C>T (p.His384Tyr)
c.1864C>T (p.His622Tyr)
c.2842C>T (p.His948Tyr)
n.2660C>T
n.2868C>T
 dbSNP gnomAD v3 gnomAD v4
1g.197429479_197429481delinsCATCA1218065536CRB1c.2707_2709delinsCAT (p.His903=)
c.1588_1590delinsCAT (p.His530=)
c.850_852delinsCAT (p.His284=)
c.2371_2373delinsCAT (p.His791=)
c.2635_2637delinsCAT (p.His879=)
c.2129-6121_2129-6119delinsCAT (n.2129-6121_2129-6119delinsCAT)
n.2708_2710delinsCAT
n.2916_2918delinsCAT
c.2125_2127delinsCAT (p.His709=)
c.1150_1152delinsCAT (p.His384=)
c.1864_1866delinsCAT (p.His622=)
c.2842_2844delinsCAT (p.His948=)
n.2660_2662delinsCAT
n.2868_2870delinsCAT
1g.197429480A=CA1218065543CRB1c.2708A= (p.His903=)
c.1589A= (p.His530=)
c.851A= (p.His284=)
c.2372A= (p.His791=)
c.2636A= (p.His879=)
c.2129-6120A= (n.2129-6120A=)
n.2709A=
n.2917A=
c.2126A= (p.His709=)
c.1151A= (p.His384=)
c.1865A= (p.His622=)
c.2843A= (p.His948=)
n.2661A=
n.2869A=
1g.197429480A>CCA344040477CRB1c.2708A>C (p.His903Pro)
c.1589A>C (p.His530Pro)
c.851A>C (p.His284Pro)
c.2372A>C (p.His791Pro)
c.2636A>C (p.His879Pro)
c.2129-6120A>C (n.2129-6120A>C)
n.2709A>C
n.2917A>C
c.2126A>C (p.His709Pro)
c.1151A>C (p.His384Pro)
c.1865A>C (p.His622Pro)
c.2843A>C (p.His948Pro)
n.2661A>C
n.2869A>C
1g.197429480A>GCA344040479CRB1c.2708A>G (p.His903Arg)
c.1589A>G (p.His530Arg)
c.851A>G (p.His284Arg)
c.2372A>G (p.His791Arg)
c.2636A>G (p.His879Arg)
c.2129-6120A>G (n.2129-6120A>G)
n.2709A>G
n.2917A>G
c.2126A>G (p.His709Arg)
c.1151A>G (p.His384Arg)
c.1865A>G (p.His622Arg)
c.2843A>G (p.His948Arg)
n.2661A>G
n.2869A>G
 gnomAD v4
1g.197429480A>TCA344040480CRB1c.2708A>T (p.His903Leu)
c.1589A>T (p.His530Leu)
c.851A>T (p.His284Leu)
c.2372A>T (p.His791Leu)
c.2636A>T (p.His879Leu)
c.2129-6120A>T (n.2129-6120A>T)
n.2709A>T
n.2917A>T
c.2126A>T (p.His709Leu)
c.1151A>T (p.His384Leu)
c.1865A>T (p.His622Leu)
c.2843A>T (p.His948Leu)
n.2661A>T
n.2869A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197429480_197429481delCA1139656478CRB1c.2708_2709del (p.His903LeufsTer5)
c.1589_1590del (p.His530LeufsTer5)
c.851_852del (p.His284LeufsTer5)
c.2372_2373del (p.His791LeufsTer5)
c.2636_2637del (p.His879LeufsTer5)
c.2129-6120_2129-6119del (n.2129-6120_2129-6119del)
n.2709_2710del
n.2917_2918del
c.2126_2127del (p.His709LeufsTer5)
c.1151_1152del (p.His384LeufsTer5)
c.1865_1866del (p.His622LeufsTer5)
c.2843_2844del (p.His948LeufsTer5)
n.2661_2662del
n.2869_2870del
 ClinVar dbSNP
1g.197429481T>ACA344040482CRB1c.2709T>A (p.His903Gln)
c.1590T>A (p.His530Gln)
c.852T>A (p.His284Gln)
c.2373T>A (p.His791Gln)
c.2637T>A (p.His879Gln)
c.2129-6119T>A (n.2129-6119T>A)
n.2710T>A
n.2918T>A
c.2127T>A (p.His709Gln)
c.1152T>A (p.His384Gln)
c.1866T>A (p.His622Gln)
c.2844T>A (p.His948Gln)
n.2662T>A
n.2870T>A
1g.197429481T>CCA422672268CRB1c.2709T>C (p.His903=)
c.1590T>C (p.His530=)
c.852T>C (p.His284=)
c.2373T>C (p.His791=)
c.2637T>C (p.His879=)
c.2129-6119T>C (n.2129-6119T>C)
n.2710T>C
n.2918T>C
c.2127T>C (p.His709=)
c.1152T>C (p.His384=)
c.1866T>C (p.His622=)
c.2844T>C (p.His948=)
n.2662T>C
n.2870T>C
1g.197429481T>GCA344040484CRB1c.2709T>G (p.His903Gln)
c.1590T>G (p.His530Gln)
c.852T>G (p.His284Gln)
c.2373T>G (p.His791Gln)
c.2637T>G (p.His879Gln)
c.2129-6119T>G (n.2129-6119T>G)
n.2710T>G
n.2918T>G
c.2127T>G (p.His709Gln)
c.1152T>G (p.His384Gln)
c.1866T>G (p.His622Gln)
c.2844T>G (p.His948Gln)
n.2662T>G
n.2870T>G
1g.197429482T>ACA344040487CRB1c.2710T>A (p.Ser904Thr)
c.1591T>A (p.Ser531Thr)
c.853T>A (p.Ser285Thr)
c.2374T>A (p.Ser792Thr)
c.2638T>A (p.Ser880Thr)
c.2129-6118T>A (n.2129-6118T>A)
n.2711T>A
n.2919T>A
c.2128T>A (p.Ser710Thr)
c.1153T>A (p.Ser385Thr)
c.1867T>A (p.Ser623Thr)
c.2845T>A (p.Ser949Thr)
n.2663T>A
n.2871T>A
1g.197429482T>CCA344040489CRB1c.2710T>C (p.Ser904Pro)
c.1591T>C (p.Ser531Pro)
c.853T>C (p.Ser285Pro)
c.2374T>C (p.Ser792Pro)
c.2638T>C (p.Ser880Pro)
c.2129-6118T>C (n.2129-6118T>C)
n.2711T>C
n.2919T>C
c.2128T>C (p.Ser710Pro)
c.1153T>C (p.Ser385Pro)
c.1867T>C (p.Ser623Pro)
c.2845T>C (p.Ser949Pro)
n.2663T>C
n.2871T>C
1g.197429482T>GCA344040490CRB1c.2710T>G (p.Ser904Ala)
c.1591T>G (p.Ser531Ala)
c.853T>G (p.Ser285Ala)
c.2374T>G (p.Ser792Ala)
c.2638T>G (p.Ser880Ala)
c.2129-6118T>G (n.2129-6118T>G)
n.2711T>G
n.2919T>G
c.2128T>G (p.Ser710Ala)
c.1153T>G (p.Ser385Ala)
c.1867T>G (p.Ser623Ala)
c.2845T>G (p.Ser949Ala)
n.2663T>G
n.2871T>G
1g.197429483C>ACA344040492CRB1c.2711C>A (p.Ser904Tyr)
c.1592C>A (p.Ser531Tyr)
c.854C>A (p.Ser285Tyr)
c.2375C>A (p.Ser792Tyr)
c.2639C>A (p.Ser880Tyr)
c.2129-6117C>A (n.2129-6117C>A)
n.2712C>A
n.2920C>A
c.2129C>A (p.Ser710Tyr)
c.1154C>A (p.Ser385Tyr)
c.1868C>A (p.Ser623Tyr)
c.2846C>A (p.Ser949Tyr)
n.2664C>A
n.2872C>A
1g.197429483C>GCA344040494CRB1c.2711C>G (p.Ser904Cys)
c.1592C>G (p.Ser531Cys)
c.854C>G (p.Ser285Cys)
c.2375C>G (p.Ser792Cys)
c.2639C>G (p.Ser880Cys)
c.2129-6117C>G (n.2129-6117C>G)
n.2712C>G
n.2920C>G
c.2129C>G (p.Ser710Cys)
c.1154C>G (p.Ser385Cys)
c.1868C>G (p.Ser623Cys)
c.2846C>G (p.Ser949Cys)
n.2664C>G
n.2872C>G
 ClinVar
1g.197429483C>TCA344040496CRB1c.2711C>T (p.Ser904Phe)
c.1592C>T (p.Ser531Phe)
c.854C>T (p.Ser285Phe)
c.2375C>T (p.Ser792Phe)
c.2639C>T (p.Ser880Phe)
c.2129-6117C>T (n.2129-6117C>T)
n.2712C>T
n.2920C>T
c.2129C>T (p.Ser710Phe)
c.1154C>T (p.Ser385Phe)
c.1868C>T (p.Ser623Phe)
c.2846C>T (p.Ser949Phe)
n.2664C>T
n.2872C>T
 gnomAD v4
1g.197429484C>ACA422672269CRB1c.2712C>A (p.Ser904=)
c.1593C>A (p.Ser531=)
c.855C>A (p.Ser285=)
c.2376C>A (p.Ser792=)
c.2640C>A (p.Ser880=)
c.2129-6116C>A (n.2129-6116C>A)
n.2713C>A
n.2921C>A
c.2130C>A (p.Ser710=)
c.1155C>A (p.Ser385=)
c.1869C>A (p.Ser623=)
c.2847C>A (p.Ser949=)
n.2665C>A
n.2873C>A
1g.197429484C=CA1218065554CRB1c.2712C= (p.Ser904=)
c.1593C= (p.Ser531=)
c.855C= (p.Ser285=)
c.2376C= (p.Ser792=)
c.2640C= (p.Ser880=)
c.2129-6116C= (n.2129-6116C=)
n.2713C=
n.2921C=
c.2130C= (p.Ser710=)
c.1155C= (p.Ser385=)
c.1869C= (p.Ser623=)
c.2847C= (p.Ser949=)
n.2665C=
n.2873C=
1g.197429484C>GCA422672270CRB1c.2712C>G (p.Ser904=)
c.1593C>G (p.Ser531=)
c.855C>G (p.Ser285=)
c.2376C>G (p.Ser792=)
c.2640C>G (p.Ser880=)
c.2129-6116C>G (n.2129-6116C>G)
n.2713C>G
n.2921C>G
c.2130C>G (p.Ser710=)
c.1155C>G (p.Ser385=)
c.1869C>G (p.Ser623=)
c.2847C>G (p.Ser949=)
n.2665C>G
n.2873C>G
1g.197429484C>TCA422672271CRB1c.2712C>T (p.Ser904=)
c.1593C>T (p.Ser531=)
c.855C>T (p.Ser285=)
c.2376C>T (p.Ser792=)
c.2640C>T (p.Ser880=)
c.2129-6116C>T (n.2129-6116C>T)
n.2713C>T
n.2921C>T
c.2130C>T (p.Ser710=)
c.1155C>T (p.Ser385=)
c.1869C>T (p.Ser623=)
c.2847C>T (p.Ser949=)
n.2665C>T
n.2873C>T
 ClinVar dbSNP gnomAD v2 COSMIC
1g.197429485C>ACA422672272CRB1c.2713C>A (p.Arg905=)
c.1594C>A (p.Arg532=)
c.856C>A (p.Arg286=)
c.2377C>A (p.Arg793=)
c.2641C>A (p.Arg881=)
c.2129-6115C>A (n.2129-6115C>A)
n.2714C>A
n.2922C>A
c.2131C>A (p.Arg711=)
c.1156C>A (p.Arg386=)
c.1870C>A (p.Arg624=)
c.2848C>A (p.Arg950=)
n.2666C>A
n.2874C>A
 dbSNP gnomAD v2
1g.197429485C=CA1149112174CRB1c.2713C= (p.Arg905=)
c.1594C= (p.Arg532=)
c.856C= (p.Arg286=)
c.2377C= (p.Arg793=)
c.2641C= (p.Arg881=)
c.2129-6115C= (n.2129-6115C=)
n.2714C=
n.2922C=
c.2131C= (p.Arg711=)
c.1156C= (p.Arg386=)
c.1870C= (p.Arg624=)
c.2848C= (p.Arg950=)
n.2666C=
n.2874C=
1g.197429485C>GCA344040497CRB1c.2713C>G (p.Arg905Gly)
c.1594C>G (p.Arg532Gly)
c.856C>G (p.Arg286Gly)
c.2377C>G (p.Arg793Gly)
c.2641C>G (p.Arg881Gly)
c.2129-6115C>G (n.2129-6115C>G)
n.2714C>G
n.2922C>G
c.2131C>G (p.Arg711Gly)
c.1156C>G (p.Arg386Gly)
c.1870C>G (p.Arg624Gly)
c.2848C>G (p.Arg950Gly)
n.2666C>G
n.2874C>G
1g.197429485C>TCA1312194CRB1c.2713C>T (p.Arg905Trp)
c.1594C>T (p.Arg532Trp)
c.856C>T (p.Arg286Trp)
c.2377C>T (p.Arg793Trp)
c.2641C>T (p.Arg881Trp)
c.2129-6115C>T (n.2129-6115C>T)
n.2714C>T
n.2922C>T
c.2131C>T (p.Arg711Trp)
c.1156C>T (p.Arg386Trp)
c.1870C>T (p.Arg624Trp)
c.2848C>T (p.Arg950Trp)
n.2666C>T
n.2874C>T
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC
1g.197429486G>ACA1312195CRB1c.2714G>A (p.Arg905Gln)
c.1595G>A (p.Arg532Gln)
c.857G>A (p.Arg286Gln)
c.2378G>A (p.Arg793Gln)
c.2642G>A (p.Arg881Gln)
c.2129-6114G>A (n.2129-6114G>A)
n.2715G>A
n.2923G>A
c.2132G>A (p.Arg711Gln)
c.1157G>A (p.Arg386Gln)
c.1871G>A (p.Arg624Gln)
c.2849G>A (p.Arg950Gln)
n.2667G>A
n.2875G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197429486G>CCA344040498CRB1c.2714G>C (p.Arg905Pro)
c.1595G>C (p.Arg532Pro)
c.857G>C (p.Arg286Pro)
c.2378G>C (p.Arg793Pro)
c.2642G>C (p.Arg881Pro)
c.2129-6114G>C (n.2129-6114G>C)
n.2715G>C
n.2923G>C
c.2132G>C (p.Arg711Pro)
c.1157G>C (p.Arg386Pro)
c.1871G>C (p.Arg624Pro)
c.2849G>C (p.Arg950Pro)
n.2667G>C
n.2875G>C
1g.197429486G=CA1141377538CRB1c.2714G= (p.Arg905=)
c.1595G= (p.Arg532=)
c.857G= (p.Arg286=)
c.2378G= (p.Arg793=)
c.2642G= (p.Arg881=)
c.2129-6114G= (n.2129-6114G=)
n.2715G=
n.2923G=
c.2132G= (p.Arg711=)
c.1157G= (p.Arg386=)
c.1871G= (p.Arg624=)
c.2849G= (p.Arg950=)
n.2667G=
n.2875G=
1g.197429486G>TCA344040500CRB1c.2714G>T (p.Arg905Leu)
c.1595G>T (p.Arg532Leu)
c.857G>T (p.Arg286Leu)
c.2378G>T (p.Arg793Leu)
c.2642G>T (p.Arg881Leu)
c.2129-6114G>T (n.2129-6114G>T)
n.2715G>T
n.2923G>T
c.2132G>T (p.Arg711Leu)
c.1157G>T (p.Arg386Leu)
c.1871G>T (p.Arg624Leu)
c.2849G>T (p.Arg950Leu)
n.2667G>T
n.2875G>T
 gnomAD v4
1g.197429487G>ACA1312196CRB1c.2715G>A (p.Arg905=)
c.1596G>A (p.Arg532=)
c.858G>A (p.Arg286=)
c.2379G>A (p.Arg793=)
c.2643G>A (p.Arg881=)
c.2129-6113G>A (n.2129-6113G>A)
n.2716G>A
n.2924G>A
c.2133G>A (p.Arg711=)
c.1158G>A (p.Arg386=)
c.1872G>A (p.Arg624=)
c.2850G>A (p.Arg950=)
n.2668G>A
n.2876G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197429487G>CCA422672273CRB1c.2715G>C (p.Arg905=)
c.1596G>C (p.Arg532=)
c.858G>C (p.Arg286=)
c.2379G>C (p.Arg793=)
c.2643G>C (p.Arg881=)
c.2129-6113G>C (n.2129-6113G>C)
n.2716G>C
n.2924G>C
c.2133G>C (p.Arg711=)
c.1158G>C (p.Arg386=)
c.1872G>C (p.Arg624=)
c.2850G>C (p.Arg950=)
n.2668G>C
n.2876G>C
1g.197429487G=CA1144757376CRB1c.2715G= (p.Arg905=)
c.1596G= (p.Arg532=)
c.858G= (p.Arg286=)
c.2379G= (p.Arg793=)
c.2643G= (p.Arg881=)
c.2129-6113G= (n.2129-6113G=)
n.2716G=
n.2924G=
c.2133G= (p.Arg711=)
c.1158G= (p.Arg386=)
c.1872G= (p.Arg624=)
c.2850G= (p.Arg950=)
n.2668G=
n.2876G=
1g.197429487G>TCA422672274CRB1c.2715G>T (p.Arg905=)
c.1596G>T (p.Arg532=)
c.858G>T (p.Arg286=)
c.2379G>T (p.Arg793=)
c.2643G>T (p.Arg881=)
c.2129-6113G>T (n.2129-6113G>T)
n.2716G>T
n.2924G>T
c.2133G>T (p.Arg711=)
c.1158G>T (p.Arg386=)
c.1872G>T (p.Arg624=)
c.2850G>T (p.Arg950=)
n.2668G>T
n.2876G>T
 ClinVar
1g.197429488T>ACA344040503CRB1c.2716T>A (p.Trp906Arg)
c.1597T>A (p.Trp533Arg)
c.859T>A (p.Trp287Arg)
c.2380T>A (p.Trp794Arg)
c.2644T>A (p.Trp882Arg)
c.2129-6112T>A (n.2129-6112T>A)
n.2717T>A
n.2925T>A
c.2134T>A (p.Trp712Arg)
c.1159T>A (p.Trp387Arg)
c.1873T>A (p.Trp625Arg)
c.2851T>A (p.Trp951Arg)
n.2669T>A
n.2877T>A
1g.197429488T>CCA344040507CRB1c.2716T>C (p.Trp906Arg)
c.1597T>C (p.Trp533Arg)
c.859T>C (p.Trp287Arg)
c.2380T>C (p.Trp794Arg)
c.2644T>C (p.Trp882Arg)
c.2129-6112T>C (n.2129-6112T>C)
n.2717T>C
n.2925T>C
c.2134T>C (p.Trp712Arg)
c.1159T>C (p.Trp387Arg)
c.1873T>C (p.Trp625Arg)
c.2851T>C (p.Trp951Arg)
n.2669T>C
n.2877T>C
1g.197429488T>GCA344040505CRB1c.2716T>G (p.Trp906Gly)
c.1597T>G (p.Trp533Gly)
c.859T>G (p.Trp287Gly)
c.2380T>G (p.Trp794Gly)
c.2644T>G (p.Trp882Gly)
c.2129-6112T>G (n.2129-6112T>G)
n.2717T>G
n.2925T>G
c.2134T>G (p.Trp712Gly)
c.1159T>G (p.Trp387Gly)
c.1873T>G (p.Trp625Gly)
c.2851T>G (p.Trp951Gly)
n.2669T>G
n.2877T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197429488T=CA1218065578CRB1c.2716T= (p.Trp906=)
c.1597T= (p.Trp533=)
c.859T= (p.Trp287=)
c.2380T= (p.Trp794=)
c.2644T= (p.Trp882=)
c.2129-6112T= (n.2129-6112T=)
n.2717T=
n.2925T=
c.2134T= (p.Trp712=)
c.1159T= (p.Trp387=)
c.1873T= (p.Trp625=)
c.2851T= (p.Trp951=)
n.2669T=
n.2877T=
1g.197429489G>ACA344040508CRB1c.2717G>A (p.Trp906Ter)
c.1598G>A (p.Trp533Ter)
c.860G>A (p.Trp287Ter)
c.2381G>A (p.Trp794Ter)
c.2645G>A (p.Trp882Ter)
c.2129-6111G>A (n.2129-6111G>A)
n.2718G>A
n.2926G>A
c.2135G>A (p.Trp712Ter)
c.1160G>A (p.Trp387Ter)
c.1874G>A (p.Trp625Ter)
c.2852G>A (p.Trp951Ter)
n.2670G>A
n.2878G>A
 COSMIC COSMIC
1g.197429489G>CCA344040510CRB1c.2717G>C (p.Trp906Ser)
c.1598G>C (p.Trp533Ser)
c.860G>C (p.Trp287Ser)
c.2381G>C (p.Trp794Ser)
c.2645G>C (p.Trp882Ser)
c.2129-6111G>C (n.2129-6111G>C)
n.2718G>C
n.2926G>C
c.2135G>C (p.Trp712Ser)
c.1160G>C (p.Trp387Ser)
c.1874G>C (p.Trp625Ser)
c.2852G>C (p.Trp951Ser)
n.2670G>C
n.2878G>C
1g.197429489G>TCA344040509CRB1c.2717G>T (p.Trp906Leu)
c.1598G>T (p.Trp533Leu)
c.860G>T (p.Trp287Leu)
c.2381G>T (p.Trp794Leu)
c.2645G>T (p.Trp882Leu)
c.2129-6111G>T (n.2129-6111G>T)
n.2718G>T
n.2926G>T
c.2135G>T (p.Trp712Leu)
c.1160G>T (p.Trp387Leu)
c.1874G>T (p.Trp625Leu)
c.2852G>T (p.Trp951Leu)
n.2670G>T
n.2878G>T
1g.197429490G>ACA344040512CRB1c.2718G>A (p.Trp906Ter)
c.1599G>A (p.Trp533Ter)
c.861G>A (p.Trp287Ter)
c.2382G>A (p.Trp794Ter)
c.2646G>A (p.Trp882Ter)
c.2129-6110G>A (n.2129-6110G>A)
n.2719G>A
n.2927G>A
c.2136G>A (p.Trp712Ter)
c.1161G>A (p.Trp387Ter)
c.1875G>A (p.Trp625Ter)
c.2853G>A (p.Trp951Ter)
n.2671G>A
n.2879G>A
 ClinVar dbSNP COSMIC COSMIC
1g.197429490G>CCA344040513CRB1c.2718G>C (p.Trp906Cys)
c.1599G>C (p.Trp533Cys)
c.861G>C (p.Trp287Cys)
c.2382G>C (p.Trp794Cys)
c.2646G>C (p.Trp882Cys)
c.2129-6110G>C (n.2129-6110G>C)
n.2719G>C
n.2927G>C
c.2136G>C (p.Trp712Cys)
c.1161G>C (p.Trp387Cys)
c.1875G>C (p.Trp625Cys)
c.2853G>C (p.Trp951Cys)
n.2671G>C
n.2879G>C
1g.197429490G>TCA344040515CRB1c.2718G>T (p.Trp906Cys)
c.1599G>T (p.Trp533Cys)
c.861G>T (p.Trp287Cys)
c.2382G>T (p.Trp794Cys)
c.2646G>T (p.Trp882Cys)
c.2129-6110G>T (n.2129-6110G>T)
n.2719G>T
n.2927G>T
c.2136G>T (p.Trp712Cys)
c.1161G>T (p.Trp387Cys)
c.1875G>T (p.Trp625Cys)
c.2853G>T (p.Trp951Cys)
n.2671G>T
n.2879G>T
1g.197429491G>ACA344040516CRB1c.2719G>A (p.Asp907Asn)
c.1600G>A (p.Asp534Asn)
c.862G>A (p.Asp288Asn)
c.2383G>A (p.Asp795Asn)
c.2647G>A (p.Asp883Asn)
c.2129-6109G>A (n.2129-6109G>A)
n.2720G>A
n.2928G>A
c.2137G>A (p.Asp713Asn)
c.1162G>A (p.Asp388Asn)
c.1876G>A (p.Asp626Asn)
c.2854G>A (p.Asp952Asn)
n.2672G>A
n.2880G>A
1g.197429491G>CCA344040517CRB1c.2719G>C (p.Asp907His)
c.1600G>C (p.Asp534His)
c.862G>C (p.Asp288His)
c.2383G>C (p.Asp795His)
c.2647G>C (p.Asp883His)
c.2129-6109G>C (n.2129-6109G>C)
n.2720G>C
n.2928G>C
c.2137G>C (p.Asp713His)
c.1162G>C (p.Asp388His)
c.1876G>C (p.Asp626His)
c.2854G>C (p.Asp952His)
n.2672G>C
n.2880G>C
1g.197429491G>TCA344040518CRB1c.2719G>T (p.Asp907Tyr)
c.1600G>T (p.Asp534Tyr)
c.862G>T (p.Asp288Tyr)
c.2383G>T (p.Asp795Tyr)
c.2647G>T (p.Asp883Tyr)
c.2129-6109G>T (n.2129-6109G>T)
n.2720G>T
n.2928G>T
c.2137G>T (p.Asp713Tyr)
c.1162G>T (p.Asp388Tyr)
c.1876G>T (p.Asp626Tyr)
c.2854G>T (p.Asp952Tyr)
n.2672G>T
n.2880G>T
1g.197429492A>CCA344040519CRB1c.2720A>C (p.Asp907Ala)
c.1601A>C (p.Asp534Ala)
c.863A>C (p.Asp288Ala)
c.2384A>C (p.Asp795Ala)
c.2648A>C (p.Asp883Ala)
c.2129-6108A>C (n.2129-6108A>C)
n.2721A>C
n.2929A>C
c.2138A>C (p.Asp713Ala)
c.1163A>C (p.Asp388Ala)
c.1877A>C (p.Asp626Ala)
c.2855A>C (p.Asp952Ala)
n.2673A>C
n.2881A>C
1g.197429492A>GCA344040521CRB1c.2720A>G (p.Asp907Gly)
c.1601A>G (p.Asp534Gly)
c.863A>G (p.Asp288Gly)
c.2384A>G (p.Asp795Gly)
c.2648A>G (p.Asp883Gly)
c.2129-6108A>G (n.2129-6108A>G)
n.2721A>G
n.2929A>G
c.2138A>G (p.Asp713Gly)
c.1163A>G (p.Asp388Gly)
c.1877A>G (p.Asp626Gly)
c.2855A>G (p.Asp952Gly)
n.2673A>G
n.2881A>G
1g.197429492A>TCA344040523CRB1c.2720A>T (p.Asp907Val)
c.1601A>T (p.Asp534Val)
c.863A>T (p.Asp288Val)
c.2384A>T (p.Asp795Val)
c.2648A>T (p.Asp883Val)
c.2129-6108A>T (n.2129-6108A>T)
n.2721A>T
n.2929A>T
c.2138A>T (p.Asp713Val)
c.1163A>T (p.Asp388Val)
c.1877A>T (p.Asp626Val)
c.2855A>T (p.Asp952Val)
n.2673A>T
n.2881A>T
1g.197429493T>ACA344040525CRB1c.2721T>A (p.Asp907Glu)
c.1602T>A (p.Asp534Glu)
c.864T>A (p.Asp288Glu)
c.2385T>A (p.Asp795Glu)
c.2649T>A (p.Asp883Glu)
c.2129-6107T>A (n.2129-6107T>A)
n.2722T>A
n.2930T>A
c.2139T>A (p.Asp713Glu)
c.1164T>A (p.Asp388Glu)
c.1878T>A (p.Asp626Glu)
c.2856T>A (p.Asp952Glu)
n.2674T>A
n.2882T>A
1g.197429493T>CCA422672275CRB1c.2721T>C (p.Asp907=)
c.1602T>C (p.Asp534=)
c.864T>C (p.Asp288=)
c.2385T>C (p.Asp795=)
c.2649T>C (p.Asp883=)
c.2129-6107T>C (n.2129-6107T>C)
n.2722T>C
n.2930T>C
c.2139T>C (p.Asp713=)
c.1164T>C (p.Asp388=)
c.1878T>C (p.Asp626=)
c.2856T>C (p.Asp952=)
n.2674T>C
n.2882T>C
1g.197429493T>GCA344040527CRB1c.2721T>G (p.Asp907Glu)
c.1602T>G (p.Asp534Glu)
c.864T>G (p.Asp288Glu)
c.2385T>G (p.Asp795Glu)
c.2649T>G (p.Asp883Glu)
c.2129-6107T>G (n.2129-6107T>G)
n.2722T>G
n.2930T>G
c.2139T>G (p.Asp713Glu)
c.1164T>G (p.Asp388Glu)
c.1878T>G (p.Asp626Glu)
c.2856T>G (p.Asp952Glu)
n.2674T>G
n.2882T>G
1g.197429494G>ACA344040533CRB1c.2722G>A (p.Asp908Asn)
c.1603G>A (p.Asp535Asn)
c.865G>A (p.Asp289Asn)
c.2386G>A (p.Asp796Asn)
c.2650G>A (p.Asp884Asn)
c.2129-6106G>A (n.2129-6106G>A)
n.2723G>A
n.2931G>A
c.2140G>A (p.Asp714Asn)
c.1165G>A (p.Asp389Asn)
c.1879G>A (p.Asp627Asn)
c.2857G>A (p.Asp953Asn)
n.2675G>A
n.2883G>A
1g.197429494G>CCA344040529CRB1c.2722G>C (p.Asp908His)
c.1603G>C (p.Asp535His)
c.865G>C (p.Asp289His)
c.2386G>C (p.Asp796His)
c.2650G>C (p.Asp884His)
c.2129-6106G>C (n.2129-6106G>C)
n.2723G>C
n.2931G>C
c.2140G>C (p.Asp714His)
c.1165G>C (p.Asp389His)
c.1879G>C (p.Asp627His)
c.2857G>C (p.Asp953His)
n.2675G>C
n.2883G>C
1g.197429494G>TCA344040531CRB1c.2722G>T (p.Asp908Tyr)
c.1603G>T (p.Asp535Tyr)
c.865G>T (p.Asp289Tyr)
c.2386G>T (p.Asp796Tyr)
c.2650G>T (p.Asp884Tyr)
c.2129-6106G>T (n.2129-6106G>T)
n.2723G>T
n.2931G>T
c.2140G>T (p.Asp714Tyr)
c.1165G>T (p.Asp389Tyr)
c.1879G>T (p.Asp627Tyr)
c.2857G>T (p.Asp953Tyr)
n.2675G>T
n.2883G>T
1g.197429495A>CCA344040536CRB1c.2723A>C (p.Asp908Ala)
c.1604A>C (p.Asp535Ala)
c.866A>C (p.Asp289Ala)
c.2387A>C (p.Asp796Ala)
c.2651A>C (p.Asp884Ala)
c.2129-6105A>C (n.2129-6105A>C)
n.2724A>C
n.2932A>C
c.2141A>C (p.Asp714Ala)
c.1166A>C (p.Asp389Ala)
c.1880A>C (p.Asp627Ala)
c.2858A>C (p.Asp953Ala)
n.2676A>C
n.2884A>C
1g.197429495A>GCA344040537CRB1c.2723A>G (p.Asp908Gly)
c.1604A>G (p.Asp535Gly)
c.866A>G (p.Asp289Gly)
c.2387A>G (p.Asp796Gly)
c.2651A>G (p.Asp884Gly)
c.2129-6105A>G (n.2129-6105A>G)
n.2724A>G
n.2932A>G
c.2141A>G (p.Asp714Gly)
c.1166A>G (p.Asp389Gly)
c.1880A>G (p.Asp627Gly)
c.2858A>G (p.Asp953Gly)
n.2676A>G
n.2884A>G
1g.197429495A>TCA344040538CRB1c.2723A>T (p.Asp908Val)
c.1604A>T (p.Asp535Val)
c.866A>T (p.Asp289Val)
c.2387A>T (p.Asp796Val)
c.2651A>T (p.Asp884Val)
c.2129-6105A>T (n.2129-6105A>T)
n.2724A>T
n.2932A>T
c.2141A>T (p.Asp714Val)
c.1166A>T (p.Asp389Val)
c.1880A>T (p.Asp627Val)
c.2858A>T (p.Asp953Val)
n.2676A>T
n.2884A>T
1g.197429496C>ACA344040539CRB1c.2724C>A (p.Asp908Glu)
c.1605C>A (p.Asp535Glu)
c.867C>A (p.Asp289Glu)
c.2388C>A (p.Asp796Glu)
c.2652C>A (p.Asp884Glu)
c.2129-6104C>A (n.2129-6104C>A)
n.2725C>A
n.2933C>A
c.2142C>A (p.Asp714Glu)
c.1167C>A (p.Asp389Glu)
c.1881C>A (p.Asp627Glu)
c.2859C>A (p.Asp953Glu)
n.2677C>A
n.2885C>A
1g.197429496C>GCA344040540CRB1c.2724C>G (p.Asp908Glu)
c.1605C>G (p.Asp535Glu)
c.867C>G (p.Asp289Glu)
c.2388C>G (p.Asp796Glu)
c.2652C>G (p.Asp884Glu)
c.2129-6104C>G (n.2129-6104C>G)
n.2725C>G
n.2933C>G
c.2142C>G (p.Asp714Glu)
c.1167C>G (p.Asp389Glu)
c.1881C>G (p.Asp627Glu)
c.2859C>G (p.Asp953Glu)
n.2677C>G
n.2885C>G
1g.197429496C>TCA422672276CRB1c.2724C>T (p.Asp908=)
c.1605C>T (p.Asp535=)
c.867C>T (p.Asp289=)
c.2388C>T (p.Asp796=)
c.2652C>T (p.Asp884=)
c.2129-6104C>T (n.2129-6104C>T)
n.2725C>T
n.2933C>T
c.2142C>T (p.Asp714=)
c.1167C>T (p.Asp389=)
c.1881C>T (p.Asp627=)
c.2859C>T (p.Asp953=)
n.2677C>T
n.2885C>T
1g.197429497T>ACA344040542CRB1c.2725T>A (p.Phe909Ile)
c.1606T>A (p.Phe536Ile)
c.868T>A (p.Phe290Ile)
c.2389T>A (p.Phe797Ile)
c.2653T>A (p.Phe885Ile)
c.2129-6103T>A (n.2129-6103T>A)
n.2726T>A
n.2934T>A
c.2143T>A (p.Phe715Ile)
c.1168T>A (p.Phe390Ile)
c.1882T>A (p.Phe628Ile)
c.2860T>A (p.Phe954Ile)
n.2678T>A
n.2886T>A
1g.197429497T>CCA344040543CRB1c.2725T>C (p.Phe909Leu)
c.1606T>C (p.Phe536Leu)
c.868T>C (p.Phe290Leu)
c.2389T>C (p.Phe797Leu)
c.2653T>C (p.Phe885Leu)
c.2129-6103T>C (n.2129-6103T>C)
n.2726T>C
n.2934T>C
c.2143T>C (p.Phe715Leu)
c.1168T>C (p.Phe390Leu)
c.1882T>C (p.Phe628Leu)
c.2860T>C (p.Phe954Leu)
n.2678T>C
n.2886T>C
1g.197429497T>GCA344040550CRB1c.2725T>G (p.Phe909Val)
c.1606T>G (p.Phe536Val)
c.868T>G (p.Phe290Val)
c.2389T>G (p.Phe797Val)
c.2653T>G (p.Phe885Val)
c.2129-6103T>G (n.2129-6103T>G)
n.2726T>G
n.2934T>G
c.2143T>G (p.Phe715Val)
c.1168T>G (p.Phe390Val)
c.1882T>G (p.Phe628Val)
c.2860T>G (p.Phe954Val)
n.2678T>G
n.2886T>G
1g.197429498T>ACA344040558CRB1c.2726T>A (p.Phe909Tyr)
c.1607T>A (p.Phe536Tyr)
c.869T>A (p.Phe290Tyr)
c.2390T>A (p.Phe797Tyr)
c.2654T>A (p.Phe885Tyr)
c.2129-6102T>A (n.2129-6102T>A)
n.2727T>A
n.2935T>A
c.2144T>A (p.Phe715Tyr)
c.1169T>A (p.Phe390Tyr)
c.1883T>A (p.Phe628Tyr)
c.2861T>A (p.Phe954Tyr)
n.2679T>A
n.2887T>A
1g.197429498T>CCA344040566CRB1c.2726T>C (p.Phe909Ser)
c.1607T>C (p.Phe536Ser)
c.869T>C (p.Phe290Ser)
c.2390T>C (p.Phe797Ser)
c.2654T>C (p.Phe885Ser)
c.2129-6102T>C (n.2129-6102T>C)
n.2727T>C
n.2935T>C
c.2144T>C (p.Phe715Ser)
c.1169T>C (p.Phe390Ser)
c.1883T>C (p.Phe628Ser)
c.2861T>C (p.Phe954Ser)
n.2679T>C
n.2887T>C
1g.197429498T>GCA344040568CRB1c.2726T>G (p.Phe909Cys)
c.1607T>G (p.Phe536Cys)
c.869T>G (p.Phe290Cys)
c.2390T>G (p.Phe797Cys)
c.2654T>G (p.Phe885Cys)
c.2129-6102T>G (n.2129-6102T>G)
n.2727T>G
n.2935T>G
c.2144T>G (p.Phe715Cys)
c.1169T>G (p.Phe390Cys)
c.1883T>G (p.Phe628Cys)
c.2861T>G (p.Phe954Cys)
n.2679T>G
n.2887T>G
1g.197429498_197429501delinsTCTCCA1218065580CRB1c.2726_2729delinsTCTC (p.Phe909=)
c.1607_1610delinsTCTC (p.Phe536=)
c.869_872delinsTCTC (p.Phe290=)
c.2390_2393delinsTCTC (p.Phe797=)
c.2654_2657delinsTCTC (p.Phe885=)
c.2129-6102_2129-6099delinsTCTC (n.2129-6102_2129-6099delinsTCTC)
n.2727_2730delinsTCTC
n.2935_2938delinsTCTC
c.2144_2147delinsTCTC (p.Phe715=)
c.1169_1172delinsTCTC (p.Phe390=)
c.1883_1886delinsTCTC (p.Phe628=)
c.2861_2864delinsTCTC (p.Phe954=)
n.2679_2682delinsTCTC
n.2887_2890delinsTCTC
1g.197429499C>ACA344040579CRB1c.2727C>A (p.Phe909Leu)
c.1608C>A (p.Phe536Leu)
c.870C>A (p.Phe290Leu)
c.2391C>A (p.Phe797Leu)
c.2655C>A (p.Phe885Leu)
c.2129-6101C>A (n.2129-6101C>A)
n.2728C>A
n.2936C>A
c.2145C>A (p.Phe715Leu)
c.1170C>A (p.Phe390Leu)
c.1884C>A (p.Phe628Leu)
c.2862C>A (p.Phe954Leu)
n.2680C>A
n.2888C>A
 ClinVar
1g.197429499C>GCA344040570CRB1c.2727C>G (p.Phe909Leu)
c.1608C>G (p.Phe536Leu)
c.870C>G (p.Phe290Leu)
c.2391C>G (p.Phe797Leu)
c.2655C>G (p.Phe885Leu)
c.2129-6101C>G (n.2129-6101C>G)
n.2728C>G
n.2936C>G
c.2145C>G (p.Phe715Leu)
c.1170C>G (p.Phe390Leu)
c.1884C>G (p.Phe628Leu)
c.2862C>G (p.Phe954Leu)
n.2680C>G
n.2888C>G
1g.197429499C>TCA422672277CRB1c.2727C>T (p.Phe909=)
c.1608C>T (p.Phe536=)
c.870C>T (p.Phe290=)
c.2391C>T (p.Phe797=)
c.2655C>T (p.Phe885=)
c.2129-6101C>T (n.2129-6101C>T)
n.2728C>T
n.2936C>T
c.2145C>T (p.Phe715=)
c.1170C>T (p.Phe390=)
c.1884C>T (p.Phe628=)
c.2862C>T (p.Phe954=)
n.2680C>T
n.2888C>T
1g.197429501_197429503delCA528535415CRB1c.2729_2731del (p.Ser910del)
c.1610_1612del (p.Ser537del)
c.872_874del (p.Ser291del)
c.2393_2395del (p.Ser798del)
c.2657_2659del (p.Ser886del)
c.2129-6099_2129-6097del (n.2129-6099_2129-6097del)
n.2730_2732del
n.2938_2940del
c.2147_2149del (p.Ser716del)
c.1172_1174del (p.Ser391del)
c.1886_1888del (p.Ser629del)
c.2864_2866del (p.Ser955del)
n.2682_2684del
n.2890_2892del
 dbSNP gnomAD v2 gnomAD v4
1g.197429500T>ACA344040582CRB1c.2728T>A (p.Ser910Thr)
c.1609T>A (p.Ser537Thr)
c.871T>A (p.Ser291Thr)
c.2392T>A (p.Ser798Thr)
c.2656T>A (p.Ser886Thr)
c.2129-6100T>A (n.2129-6100T>A)
n.2729T>A
n.2937T>A
c.2146T>A (p.Ser716Thr)
c.1171T>A (p.Ser391Thr)
c.1885T>A (p.Ser629Thr)
c.2863T>A (p.Ser955Thr)
n.2681T>A
n.2889T>A
1g.197429500T>CCA344040586CRB1c.2728T>C (p.Ser910Pro)
c.1609T>C (p.Ser537Pro)
c.871T>C (p.Ser291Pro)
c.2392T>C (p.Ser798Pro)
c.2656T>C (p.Ser886Pro)
c.2129-6100T>C (n.2129-6100T>C)
n.2729T>C
n.2937T>C
c.2146T>C (p.Ser716Pro)
c.1171T>C (p.Ser391Pro)
c.1885T>C (p.Ser629Pro)
c.2863T>C (p.Ser955Pro)
n.2681T>C
n.2889T>C
1g.197429500T>GCA344040592CRB1c.2728T>G (p.Ser910Ala)
c.1609T>G (p.Ser537Ala)
c.871T>G (p.Ser291Ala)
c.2392T>G (p.Ser798Ala)
c.2656T>G (p.Ser886Ala)
c.2129-6100T>G (n.2129-6100T>G)
n.2729T>G
n.2937T>G
c.2146T>G (p.Ser716Ala)
c.1171T>G (p.Ser391Ala)
c.1885T>G (p.Ser629Ala)
c.2863T>G (p.Ser955Ala)
n.2681T>G
n.2889T>G
1g.197429506_197429511delCA2649670480CRB1c.2734_2739del (p.Ser912_Cys913del)
c.1615_1620del (p.Ser539_Cys540del)
c.877_882del (p.Ser293_Cys294del)
c.2398_2403del (p.Ser800_Cys801del)
c.2662_2667del (p.Ser888_Cys889del)
c.2129-6094_2129-6089del (n.2129-6094_2129-6089del)
n.2735_2740del
n.2943_2948del
c.2152_2157del (p.Ser718_Cys719del)
c.1177_1182del (p.Ser393_Cys394del)
c.1891_1896del (p.Ser631_Cys632del)
c.2869_2874del (p.Ser957_Cys958del)
n.2687_2692del
n.2895_2900del
 gnomAD v4
1g.197429501C>ACA344040595CRB1c.2729C>A (p.Ser910Tyr)
c.1610C>A (p.Ser537Tyr)
c.872C>A (p.Ser291Tyr)
c.2393C>A (p.Ser798Tyr)
c.2657C>A (p.Ser886Tyr)
c.2129-6099C>A (n.2129-6099C>A)
n.2730C>A
n.2938C>A
c.2147C>A (p.Ser716Tyr)
c.1172C>A (p.Ser391Tyr)
c.1886C>A (p.Ser629Tyr)
c.2864C>A (p.Ser955Tyr)
n.2682C>A
n.2890C>A
1g.197429501C=CA1218065586CRB1c.2729C= (p.Ser910=)
c.1610C= (p.Ser537=)
c.872C= (p.Ser291=)
c.2393C= (p.Ser798=)
c.2657C= (p.Ser886=)
c.2129-6099C= (n.2129-6099C=)
n.2730C=
n.2938C=
c.2147C= (p.Ser716=)
c.1172C= (p.Ser391=)
c.1886C= (p.Ser629=)
c.2864C= (p.Ser955=)
n.2682C=
n.2890C=
1g.197429501C>GCA344040598CRB1c.2729C>G (p.Ser910Cys)
c.1610C>G (p.Ser537Cys)
c.872C>G (p.Ser291Cys)
c.2393C>G (p.Ser798Cys)
c.2657C>G (p.Ser886Cys)
c.2129-6099C>G (n.2129-6099C>G)
n.2730C>G
n.2938C>G
c.2147C>G (p.Ser716Cys)
c.1172C>G (p.Ser391Cys)
c.1886C>G (p.Ser629Cys)
c.2864C>G (p.Ser955Cys)
n.2682C>G
n.2890C>G
1g.197429501C>TCA344040601CRB1c.2729C>T (p.Ser910Phe)
c.1610C>T (p.Ser537Phe)
c.872C>T (p.Ser291Phe)
c.2393C>T (p.Ser798Phe)
c.2657C>T (p.Ser886Phe)
c.2129-6099C>T (n.2129-6099C>T)
n.2730C>T
n.2938C>T
c.2147C>T (p.Ser716Phe)
c.1172C>T (p.Ser391Phe)
c.1886C>T (p.Ser629Phe)
c.2864C>T (p.Ser955Phe)
n.2682C>T
n.2890C>T
 dbSNP gnomAD v4
1g.197429502C>ACA422672278CRB1c.2730C>A (p.Ser910=)
c.1611C>A (p.Ser537=)
c.873C>A (p.Ser291=)
c.2394C>A (p.Ser798=)
c.2658C>A (p.Ser886=)
c.2129-6098C>A (n.2129-6098C>A)
n.2731C>A
n.2939C>A
c.2148C>A (p.Ser716=)
c.1173C>A (p.Ser391=)
c.1887C>A (p.Ser629=)
c.2865C>A (p.Ser955=)
n.2683C>A
n.2891C>A
1g.197429502C>GCA422672279CRB1c.2730C>G (p.Ser910=)
c.1611C>G (p.Ser537=)
c.873C>G (p.Ser291=)
c.2394C>G (p.Ser798=)
c.2658C>G (p.Ser886=)
c.2129-6098C>G (n.2129-6098C>G)
n.2731C>G
n.2939C>G
c.2148C>G (p.Ser716=)
c.1173C>G (p.Ser391=)
c.1887C>G (p.Ser629=)
c.2865C>G (p.Ser955=)
n.2683C>G
n.2891C>G
1g.197429502C>TCA422672280CRB1c.2730C>T (p.Ser910=)
c.1611C>T (p.Ser537=)
c.873C>T (p.Ser291=)
c.2394C>T (p.Ser798=)
c.2658C>T (p.Ser886=)
c.2129-6098C>T (n.2129-6098C>T)
n.2731C>T
n.2939C>T
c.2148C>T (p.Ser716=)
c.1173C>T (p.Ser391=)
c.1887C>T (p.Ser629=)
c.2865C>T (p.Ser955=)
n.2683C>T
n.2891C>T
1g.197429503T>ACA344040616CRB1c.2731T>A (p.Cys911Ser)
c.1612T>A (p.Cys538Ser)
c.874T>A (p.Cys292Ser)
c.2395T>A (p.Cys799Ser)
c.2659T>A (p.Cys887Ser)
c.2129-6097T>A (n.2129-6097T>A)
n.2732T>A
n.2940T>A
c.2149T>A (p.Cys717Ser)
c.1174T>A (p.Cys392Ser)
c.1888T>A (p.Cys630Ser)
c.2866T>A (p.Cys956Ser)
n.2684T>A
n.2892T>A
1g.197429503T>CCA344040605CRB1c.2731T>C (p.Cys911Arg)
c.1612T>C (p.Cys538Arg)
c.874T>C (p.Cys292Arg)
c.2395T>C (p.Cys799Arg)
c.2659T>C (p.Cys887Arg)
c.2129-6097T>C (n.2129-6097T>C)
n.2732T>C
n.2940T>C
c.2149T>C (p.Cys717Arg)
c.1174T>C (p.Cys392Arg)
c.1888T>C (p.Cys630Arg)
c.2866T>C (p.Cys956Arg)
n.2684T>C
n.2892T>C
1g.197429503T>GCA344040606CRB1c.2731T>G (p.Cys911Gly)
c.1612T>G (p.Cys538Gly)
c.874T>G (p.Cys292Gly)
c.2395T>G (p.Cys799Gly)
c.2659T>G (p.Cys887Gly)
c.2129-6097T>G (n.2129-6097T>G)
n.2732T>G
n.2940T>G
c.2149T>G (p.Cys717Gly)
c.1174T>G (p.Cys392Gly)
c.1888T>G (p.Cys630Gly)
c.2866T>G (p.Cys956Gly)
n.2684T>G
n.2892T>G
1g.197429504G>ACA344040619CRB1c.2732G>A (p.Cys911Tyr)
c.1613G>A (p.Cys538Tyr)
c.875G>A (p.Cys292Tyr)
c.2396G>A (p.Cys799Tyr)
c.2660G>A (p.Cys887Tyr)
c.2129-6096G>A (n.2129-6096G>A)
n.2733G>A
n.2941G>A
c.2150G>A (p.Cys717Tyr)
c.1175G>A (p.Cys392Tyr)
c.1889G>A (p.Cys630Tyr)
c.2867G>A (p.Cys956Tyr)
n.2685G>A
n.2893G>A
1g.197429504G>CCA35902462CRB1c.2732G>C (p.Cys911Ser)
c.1613G>C (p.Cys538Ser)
c.875G>C (p.Cys292Ser)
c.2396G>C (p.Cys799Ser)
c.2660G>C (p.Cys887Ser)
c.2129-6096G>C (n.2129-6096G>C)
n.2733G>C
n.2941G>C
c.2150G>C (p.Cys717Ser)
c.1175G>C (p.Cys392Ser)
c.1889G>C (p.Cys630Ser)
c.2867G>C (p.Cys956Ser)
n.2685G>C
n.2893G>C
 dbSNP
1g.197429504G=CA1218065588CRB1c.2732G= (p.Cys911=)
c.1613G= (p.Cys538=)
c.875G= (p.Cys292=)
c.2396G= (p.Cys799=)
c.2660G= (p.Cys887=)
c.2129-6096G= (n.2129-6096G=)
n.2733G=
n.2941G=
c.2150G= (p.Cys717=)
c.1175G= (p.Cys392=)
c.1889G= (p.Cys630=)
c.2867G= (p.Cys956=)
n.2685G=
n.2893G=
1g.197429504G>TCA344040625CRB1c.2732G>T (p.Cys911Phe)
c.1613G>T (p.Cys538Phe)
c.875G>T (p.Cys292Phe)
c.2396G>T (p.Cys799Phe)
c.2660G>T (p.Cys887Phe)
c.2129-6096G>T (n.2129-6096G>T)
n.2733G>T
n.2941G>T
c.2150G>T (p.Cys717Phe)
c.1175G>T (p.Cys392Phe)
c.1889G>T (p.Cys630Phe)
c.2867G>T (p.Cys956Phe)
n.2685G>T
n.2893G>T
1g.197429505T>ACA344040628CRB1c.2733T>A (p.Cys911Ter)
c.1614T>A (p.Cys538Ter)
c.876T>A (p.Cys292Ter)
c.2397T>A (p.Cys799Ter)
c.2661T>A (p.Cys887Ter)
c.2129-6095T>A (n.2129-6095T>A)
n.2734T>A
n.2942T>A
c.2151T>A (p.Cys717Ter)
c.1176T>A (p.Cys392Ter)
c.1890T>A (p.Cys630Ter)
c.2868T>A (p.Cys956Ter)
n.2686T>A
n.2894T>A
1g.197429505T>CCA422672281CRB1c.2733T>C (p.Cys911=)
c.1614T>C (p.Cys538=)
c.876T>C (p.Cys292=)
c.2397T>C (p.Cys799=)
c.2661T>C (p.Cys887=)
c.2129-6095T>C (n.2129-6095T>C)
n.2734T>C
n.2942T>C
c.2151T>C (p.Cys717=)
c.1176T>C (p.Cys392=)
c.1890T>C (p.Cys630=)
c.2868T>C (p.Cys956=)
n.2686T>C
n.2894T>C
1g.197429505T>GCA344040629CRB1c.2733T>G (p.Cys911Trp)
c.1614T>G (p.Cys538Trp)
c.876T>G (p.Cys292Trp)
c.2397T>G (p.Cys799Trp)
c.2661T>G (p.Cys887Trp)
c.2129-6095T>G (n.2129-6095T>G)
n.2734T>G
n.2942T>G
c.2151T>G (p.Cys717Trp)
c.1176T>G (p.Cys392Trp)
c.1890T>G (p.Cys630Trp)
c.2868T>G (p.Cys956Trp)
n.2686T>G
n.2894T>G
1g.197429506T>ACA344040633CRB1c.2734T>A (p.Ser912Thr)
c.1615T>A (p.Ser539Thr)
c.877T>A (p.Ser293Thr)
c.2398T>A (p.Ser800Thr)
c.2662T>A (p.Ser888Thr)
c.2129-6094T>A (n.2129-6094T>A)
n.2735T>A
n.2943T>A
c.2152T>A (p.Ser718Thr)
c.1177T>A (p.Ser393Thr)
c.1891T>A (p.Ser631Thr)
c.2869T>A (p.Ser957Thr)
n.2687T>A
n.2895T>A
1g.197429506T>CCA344040639CRB1c.2734T>C (p.Ser912Pro)
c.1615T>C (p.Ser539Pro)
c.877T>C (p.Ser293Pro)
c.2398T>C (p.Ser800Pro)
c.2662T>C (p.Ser888Pro)
c.2129-6094T>C (n.2129-6094T>C)
n.2735T>C
n.2943T>C
c.2152T>C (p.Ser718Pro)
c.1177T>C (p.Ser393Pro)
c.1891T>C (p.Ser631Pro)
c.2869T>C (p.Ser957Pro)
n.2687T>C
n.2895T>C
1g.197429506T>GCA344040635CRB1c.2734T>G (p.Ser912Ala)
c.1615T>G (p.Ser539Ala)
c.877T>G (p.Ser293Ala)
c.2398T>G (p.Ser800Ala)
c.2662T>G (p.Ser888Ala)
c.2129-6094T>G (n.2129-6094T>G)
n.2735T>G
n.2943T>G
c.2152T>G (p.Ser718Ala)
c.1177T>G (p.Ser393Ala)
c.1891T>G (p.Ser631Ala)
c.2869T>G (p.Ser957Ala)
n.2687T>G
n.2895T>G
1g.197429506T=CA1218065590CRB1c.2734T= (p.Ser912=)
c.1615T= (p.Ser539=)
c.877T= (p.Ser293=)
c.2398T= (p.Ser800=)
c.2662T= (p.Ser888=)
c.2129-6094T= (n.2129-6094T=)
n.2735T=
n.2943T=
c.2152T= (p.Ser718=)
c.1177T= (p.Ser393=)
c.1891T= (p.Ser631=)
c.2869T= (p.Ser957=)
n.2687T=
n.2895T=
1g.197429507C>ACA344040641CRB1c.2735C>A (p.Ser912Tyr)
c.1616C>A (p.Ser539Tyr)
c.878C>A (p.Ser293Tyr)
c.2399C>A (p.Ser800Tyr)
c.2663C>A (p.Ser888Tyr)
c.2129-6093C>A (n.2129-6093C>A)
n.2736C>A
n.2944C>A
c.2153C>A (p.Ser718Tyr)
c.1178C>A (p.Ser393Tyr)
c.1892C>A (p.Ser631Tyr)
c.2870C>A (p.Ser957Tyr)
n.2688C>A
n.2896C>A
1g.197429507C>GCA344040645CRB1c.2735C>G (p.Ser912Cys)
c.1616C>G (p.Ser539Cys)
c.878C>G (p.Ser293Cys)
c.2399C>G (p.Ser800Cys)
c.2663C>G (p.Ser888Cys)
c.2129-6093C>G (n.2129-6093C>G)
n.2736C>G
n.2944C>G
c.2153C>G (p.Ser718Cys)
c.1178C>G (p.Ser393Cys)
c.1892C>G (p.Ser631Cys)
c.2870C>G (p.Ser957Cys)
n.2688C>G
n.2896C>G
1g.197429507C>TCA344040647CRB1c.2735C>T (p.Ser912Phe)
c.1616C>T (p.Ser539Phe)
c.878C>T (p.Ser293Phe)
c.2399C>T (p.Ser800Phe)
c.2663C>T (p.Ser888Phe)
c.2129-6093C>T (n.2129-6093C>T)
n.2736C>T
n.2944C>T
c.2153C>T (p.Ser718Phe)
c.1178C>T (p.Ser393Phe)
c.1892C>T (p.Ser631Phe)
c.2870C>T (p.Ser957Phe)
n.2688C>T
n.2896C>T
 COSMIC COSMIC
1g.197429508_197429518dupCA528535416CRB1c.2736_2746dup (p.Leu916ProfsTer?)
c.1617_1627dup (p.Leu543ProfsTer?)
c.879_889dup (p.Leu297ProfsTer?)
c.2400_2410dup (p.Leu804ProfsTer?)
c.2664_2674dup (p.Leu892ProfsTer?)
c.2129-6092_2129-6082dup (n.2129-6092_2129-6082dup)
n.2737_2747dup
n.2945_2955dup
c.2154_2164dup (p.Leu722ProfsTer?)
c.1179_1189dup (p.Leu397ProfsTer?)
c.1893_1903dup (p.Leu635ProfsTer?)
c.2871_2881dup (p.Leu961ProfsTer?)
n.2689_2699dup
n.2897_2907dup
 dbSNP gnomAD v2 gnomAD v4
1g.197429508C>ACA422672282CRB1c.2736C>A (p.Ser912=)
c.1617C>A (p.Ser539=)
c.879C>A (p.Ser293=)
c.2400C>A (p.Ser800=)
c.2664C>A (p.Ser888=)
c.2129-6092C>A (n.2129-6092C>A)
n.2737C>A
n.2945C>A
c.2154C>A (p.Ser718=)
c.1179C>A (p.Ser393=)
c.1893C>A (p.Ser631=)
c.2871C>A (p.Ser957=)
n.2689C>A
n.2897C>A
1g.197429508C>GCA422672284CRB1c.2736C>G (p.Ser912=)
c.1617C>G (p.Ser539=)
c.879C>G (p.Ser293=)
c.2400C>G (p.Ser800=)
c.2664C>G (p.Ser888=)
c.2129-6092C>G (n.2129-6092C>G)
n.2737C>G
n.2945C>G
c.2154C>G (p.Ser718=)
c.1179C>G (p.Ser393=)
c.1893C>G (p.Ser631=)
c.2871C>G (p.Ser957=)
n.2689C>G
n.2897C>G
1g.197429508C>TCA422672283CRB1c.2736C>T (p.Ser912=)
c.1617C>T (p.Ser539=)
c.879C>T (p.Ser293=)
c.2400C>T (p.Ser800=)
c.2664C>T (p.Ser888=)
c.2129-6092C>T (n.2129-6092C>T)
n.2737C>T
n.2945C>T
c.2154C>T (p.Ser718=)
c.1179C>T (p.Ser393=)
c.1893C>T (p.Ser631=)
c.2871C>T (p.Ser957=)
n.2689C>T
n.2897C>T
 ClinVar
1g.197429509T>ACA344040648CRB1c.2737T>A (p.Cys913Ser)
c.1618T>A (p.Cys540Ser)
c.880T>A (p.Cys294Ser)
c.2401T>A (p.Cys801Ser)
c.2665T>A (p.Cys889Ser)
c.2129-6091T>A (n.2129-6091T>A)
n.2738T>A
n.2946T>A
c.2155T>A (p.Cys719Ser)
c.1180T>A (p.Cys394Ser)
c.1894T>A (p.Cys632Ser)
c.2872T>A (p.Cys958Ser)
n.2690T>A
n.2898T>A
1g.197429509T>CCA1312197CRB1c.2737T>C (p.Cys913Arg)
c.1618T>C (p.Cys540Arg)
c.880T>C (p.Cys294Arg)
c.2401T>C (p.Cys801Arg)
c.2665T>C (p.Cys889Arg)
c.2129-6091T>C (n.2129-6091T>C)
n.2738T>C
n.2946T>C
c.2155T>C (p.Cys719Arg)
c.1180T>C (p.Cys394Arg)
c.1894T>C (p.Cys632Arg)
c.2872T>C (p.Cys958Arg)
n.2690T>C
n.2898T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197429509T>GCA344040652CRB1c.2737T>G (p.Cys913Gly)
c.1618T>G (p.Cys540Gly)
c.880T>G (p.Cys294Gly)
c.2401T>G (p.Cys801Gly)
c.2665T>G (p.Cys889Gly)
c.2129-6091T>G (n.2129-6091T>G)
n.2738T>G
n.2946T>G
c.2155T>G (p.Cys719Gly)
c.1180T>G (p.Cys394Gly)
c.1894T>G (p.Cys632Gly)
c.2872T>G (p.Cys958Gly)
n.2690T>G
n.2898T>G
1g.197429509T=CA1148429678CRB1c.2737T= (p.Cys913=)
c.1618T= (p.Cys540=)
c.880T= (p.Cys294=)
c.2401T= (p.Cys801=)
c.2665T= (p.Cys889=)
c.2129-6091T= (n.2129-6091T=)
n.2738T=
n.2946T=
c.2155T= (p.Cys719=)
c.1180T= (p.Cys394=)
c.1894T= (p.Cys632=)
c.2872T= (p.Cys958=)
n.2690T=
n.2898T=
1g.197429510G>ACA344040656CRB1c.2738G>A (p.Cys913Tyr)
c.1619G>A (p.Cys540Tyr)
c.881G>A (p.Cys294Tyr)
c.2402G>A (p.Cys801Tyr)
c.2666G>A (p.Cys889Tyr)
c.2129-6090G>A (n.2129-6090G>A)
n.2739G>A
n.2947G>A
c.2156G>A (p.Cys719Tyr)
c.1181G>A (p.Cys394Tyr)
c.1895G>A (p.Cys632Tyr)
c.2873G>A (p.Cys958Tyr)
n.2691G>A
n.2899G>A
1g.197429510G>CCA344040663CRB1c.2738G>C (p.Cys913Ser)
c.1619G>C (p.Cys540Ser)
c.881G>C (p.Cys294Ser)
c.2402G>C (p.Cys801Ser)
c.2666G>C (p.Cys889Ser)
c.2129-6090G>C (n.2129-6090G>C)
n.2739G>C
n.2947G>C
c.2156G>C (p.Cys719Ser)
c.1181G>C (p.Cys394Ser)
c.1895G>C (p.Cys632Ser)
c.2873G>C (p.Cys958Ser)
n.2691G>C
n.2899G>C
1g.197429510G>TCA344040666CRB1c.2738G>T (p.Cys913Phe)
c.1619G>T (p.Cys540Phe)
c.881G>T (p.Cys294Phe)
c.2402G>T (p.Cys801Phe)
c.2666G>T (p.Cys889Phe)
c.2129-6090G>T (n.2129-6090G>T)
n.2739G>T
n.2947G>T
c.2156G>T (p.Cys719Phe)
c.1181G>T (p.Cys394Phe)
c.1895G>T (p.Cys632Phe)
c.2873G>T (p.Cys958Phe)
n.2691G>T
n.2899G>T
1g.197429511T>ACA344040668CRB1c.2739T>A (p.Cys913Ter)
c.1620T>A (p.Cys540Ter)
c.882T>A (p.Cys294Ter)
c.2403T>A (p.Cys801Ter)
c.2667T>A (p.Cys889Ter)
c.2129-6089T>A (n.2129-6089T>A)
n.2740T>A
n.2948T>A
c.2157T>A (p.Cys719Ter)
c.1182T>A (p.Cys394Ter)
c.1896T>A (p.Cys632Ter)
c.2874T>A (p.Cys958Ter)
n.2692T>A
n.2900T>A
1g.197429511T>CCA422672285CRB1c.2739T>C (p.Cys913=)
c.1620T>C (p.Cys540=)
c.882T>C (p.Cys294=)
c.2403T>C (p.Cys801=)
c.2667T>C (p.Cys889=)
c.2129-6089T>C (n.2129-6089T>C)
n.2740T>C
n.2948T>C
c.2157T>C (p.Cys719=)
c.1182T>C (p.Cys394=)
c.1896T>C (p.Cys632=)
c.2874T>C (p.Cys958=)
n.2692T>C
n.2900T>C
 dbSNP
1g.197429511T>GCA344040670CRB1c.2739T>G (p.Cys913Trp)
c.1620T>G (p.Cys540Trp)
c.882T>G (p.Cys294Trp)
c.2403T>G (p.Cys801Trp)
c.2667T>G (p.Cys889Trp)
c.2129-6089T>G (n.2129-6089T>G)
n.2740T>G
n.2948T>G
c.2157T>G (p.Cys719Trp)
c.1182T>G (p.Cys394Trp)
c.1896T>G (p.Cys632Trp)
c.2874T>G (p.Cys958Trp)
n.2692T>G
n.2900T>G
1g.197429511T=CA1218065597CRB1c.2739T= (p.Cys913=)
c.1620T= (p.Cys540=)
c.882T= (p.Cys294=)
c.2403T= (p.Cys801=)
c.2667T= (p.Cys889=)
c.2129-6089T= (n.2129-6089T=)
n.2740T=
n.2948T=
c.2157T= (p.Cys719=)
c.1182T= (p.Cys394=)
c.1896T= (p.Cys632=)
c.2874T= (p.Cys958=)
n.2692T=
n.2900T=
1g.197429512C>ACA35902471CRB1c.2740C>A (p.Pro914Thr)
c.1621C>A (p.Pro541Thr)
c.883C>A (p.Pro295Thr)
c.2404C>A (p.Pro802Thr)
c.2668C>A (p.Pro890Thr)
c.2129-6088C>A (n.2129-6088C>A)
n.2741C>A
n.2949C>A
c.2158C>A (p.Pro720Thr)
c.1183C>A (p.Pro395Thr)
c.1897C>A (p.Pro633Thr)
c.2875C>A (p.Pro959Thr)
n.2693C>A
n.2901C>A
 dbSNP gnomAD v4
1g.197429512C=CA1141271387CRB1c.2740C= (p.Pro914=)
c.1621C= (p.Pro541=)
c.883C= (p.Pro295=)
c.2404C= (p.Pro802=)
c.2668C= (p.Pro890=)
c.2129-6088C= (n.2129-6088C=)
n.2741C=
n.2949C=
c.2158C= (p.Pro720=)
c.1183C= (p.Pro395=)
c.1897C= (p.Pro633=)
c.2875C= (p.Pro959=)
n.2693C=
n.2901C=
1g.197429512C>GCA344040687CRB1c.2740C>G (p.Pro914Ala)
c.1621C>G (p.Pro541Ala)
c.883C>G (p.Pro295Ala)
c.2404C>G (p.Pro802Ala)
c.2668C>G (p.Pro890Ala)
c.2129-6088C>G (n.2129-6088C>G)
n.2741C>G
n.2949C>G
c.2158C>G (p.Pro720Ala)
c.1183C>G (p.Pro395Ala)
c.1897C>G (p.Pro633Ala)
c.2875C>G (p.Pro959Ala)
n.2693C>G
n.2901C>G
 gnomAD v4
1g.197429512C>TCA344040673CRB1c.2740C>T (p.Pro914Ser)
c.1621C>T (p.Pro541Ser)
c.883C>T (p.Pro295Ser)
c.2404C>T (p.Pro802Ser)
c.2668C>T (p.Pro890Ser)
c.2129-6088C>T (n.2129-6088C>T)
n.2741C>T
n.2949C>T
c.2158C>T (p.Pro720Ser)
c.1183C>T (p.Pro395Ser)
c.1897C>T (p.Pro633Ser)
c.2875C>T (p.Pro959Ser)
n.2693C>T
n.2901C>T
 COSMIC COSMIC
1g.197429513C>ACA344040700CRB1c.2741C>A (p.Pro914His)
c.1622C>A (p.Pro541His)
c.884C>A (p.Pro295His)
c.2405C>A (p.Pro802His)
c.2669C>A (p.Pro890His)
c.2129-6087C>A (n.2129-6087C>A)
n.2742C>A
n.2950C>A
c.2159C>A (p.Pro720His)
c.1184C>A (p.Pro395His)
c.1898C>A (p.Pro633His)
c.2876C>A (p.Pro959His)
n.2694C>A
n.2902C>A
1g.197429513C>GCA344040696CRB1c.2741C>G (p.Pro914Arg)
c.1622C>G (p.Pro541Arg)
c.884C>G (p.Pro295Arg)
c.2405C>G (p.Pro802Arg)
c.2669C>G (p.Pro890Arg)
c.2129-6087C>G (n.2129-6087C>G)
n.2742C>G
n.2950C>G
c.2159C>G (p.Pro720Arg)
c.1184C>G (p.Pro395Arg)
c.1898C>G (p.Pro633Arg)
c.2876C>G (p.Pro959Arg)
n.2694C>G
n.2902C>G
1g.197429513C>TCA344040704CRB1c.2741C>T (p.Pro914Leu)
c.1622C>T (p.Pro541Leu)
c.884C>T (p.Pro295Leu)
c.2405C>T (p.Pro802Leu)
c.2669C>T (p.Pro890Leu)
c.2129-6087C>T (n.2129-6087C>T)
n.2742C>T
n.2950C>T
c.2159C>T (p.Pro720Leu)
c.1184C>T (p.Pro395Leu)
c.1898C>T (p.Pro633Leu)
c.2876C>T (p.Pro959Leu)
n.2694C>T
n.2902C>T
1g.197429514T>ACA422672286CRB1c.2742T>A (p.Pro914=)
c.1623T>A (p.Pro541=)
c.885T>A (p.Pro295=)
c.2406T>A (p.Pro802=)
c.2670T>A (p.Pro890=)
c.2129-6086T>A (n.2129-6086T>A)
n.2743T>A
n.2951T>A
c.2160T>A (p.Pro720=)
c.1185T>A (p.Pro395=)
c.1899T>A (p.Pro633=)
c.2877T>A (p.Pro959=)
n.2695T>A
n.2903T>A
1g.197429514T>CCA422672287CRB1c.2742T>C (p.Pro914=)
c.1623T>C (p.Pro541=)
c.885T>C (p.Pro295=)
c.2406T>C (p.Pro802=)
c.2670T>C (p.Pro890=)
c.2129-6086T>C (n.2129-6086T>C)
n.2743T>C
n.2951T>C
c.2160T>C (p.Pro720=)
c.1185T>C (p.Pro395=)
c.1899T>C (p.Pro633=)
c.2877T>C (p.Pro959=)
n.2695T>C
n.2903T>C
 ClinVar dbSNP gnomAD v4
1g.197429514T>GCA422672288CRB1c.2742T>G (p.Pro914=)
c.1623T>G (p.Pro541=)
c.885T>G (p.Pro295=)
c.2406T>G (p.Pro802=)
c.2670T>G (p.Pro890=)
c.2129-6086T>G (n.2129-6086T>G)
n.2743T>G
n.2951T>G
c.2160T>G (p.Pro720=)
c.1185T>G (p.Pro395=)
c.1899T>G (p.Pro633=)
c.2877T>G (p.Pro959=)
n.2695T>G
n.2903T>G
1g.197429515G>ACA344040708CRB1c.2743G>A (p.Ala915Thr)
c.1624G>A (p.Ala542Thr)
c.886G>A (p.Ala296Thr)
c.2407G>A (p.Ala803Thr)
c.2671G>A (p.Ala891Thr)
c.2129-6085G>A (n.2129-6085G>A)
n.2744G>A
n.2952G>A
c.2161G>A (p.Ala721Thr)
c.1186G>A (p.Ala396Thr)
c.1900G>A (p.Ala634Thr)
c.2878G>A (p.Ala960Thr)
n.2696G>A
n.2904G>A
1g.197429515G>CCA344040712CRB1c.2743G>C (p.Ala915Pro)
c.1624G>C (p.Ala542Pro)
c.886G>C (p.Ala296Pro)
c.2407G>C (p.Ala803Pro)
c.2671G>C (p.Ala891Pro)
c.2129-6085G>C (n.2129-6085G>C)
n.2744G>C
n.2952G>C
c.2161G>C (p.Ala721Pro)
c.1186G>C (p.Ala396Pro)
c.1900G>C (p.Ala634Pro)
c.2878G>C (p.Ala960Pro)
n.2696G>C
n.2904G>C
 gnomAD v4
1g.197429515G>TCA344040716CRB1c.2743G>T (p.Ala915Ser)
c.1624G>T (p.Ala542Ser)
c.886G>T (p.Ala296Ser)
c.2407G>T (p.Ala803Ser)
c.2671G>T (p.Ala891Ser)
c.2129-6085G>T (n.2129-6085G>T)
n.2744G>T
n.2952G>T
c.2161G>T (p.Ala721Ser)
c.1186G>T (p.Ala396Ser)
c.1900G>T (p.Ala634Ser)
c.2878G>T (p.Ala960Ser)
n.2696G>T
n.2904G>T
1g.197429516C>ACA344040719CRB1c.2744C>A (p.Ala915Asp)
c.1625C>A (p.Ala542Asp)
c.887C>A (p.Ala296Asp)
c.2408C>A (p.Ala803Asp)
c.2672C>A (p.Ala891Asp)
c.2129-6084C>A (n.2129-6084C>A)
n.2745C>A
n.2953C>A
c.2162C>A (p.Ala721Asp)
c.1187C>A (p.Ala396Asp)
c.1901C>A (p.Ala634Asp)
c.2879C>A (p.Ala960Asp)
n.2697C>A
n.2905C>A
1g.197429516C>GCA344040724CRB1c.2744C>G (p.Ala915Gly)
c.1625C>G (p.Ala542Gly)
c.887C>G (p.Ala296Gly)
c.2408C>G (p.Ala803Gly)
c.2672C>G (p.Ala891Gly)
c.2129-6084C>G (n.2129-6084C>G)
n.2745C>G
n.2953C>G
c.2162C>G (p.Ala721Gly)
c.1187C>G (p.Ala396Gly)
c.1901C>G (p.Ala634Gly)
c.2879C>G (p.Ala960Gly)
n.2697C>G
n.2905C>G
1g.197429516C>TCA344040725CRB1c.2744C>T (p.Ala915Val)
c.1625C>T (p.Ala542Val)
c.887C>T (p.Ala296Val)
c.2408C>T (p.Ala803Val)
c.2672C>T (p.Ala891Val)
c.2129-6084C>T (n.2129-6084C>T)
n.2745C>T
n.2953C>T
c.2162C>T (p.Ala721Val)
c.1187C>T (p.Ala396Val)
c.1901C>T (p.Ala634Val)
c.2879C>T (p.Ala960Val)
n.2697C>T
n.2905C>T
 gnomAD v4
1g.197429517C>ACA422672290CRB1c.2745C>A (p.Ala915=)
c.1626C>A (p.Ala542=)
c.888C>A (p.Ala296=)
c.2409C>A (p.Ala803=)
c.2673C>A (p.Ala891=)
c.2129-6083C>A (n.2129-6083C>A)
n.2746C>A
n.2954C>A
c.2163C>A (p.Ala721=)
c.1188C>A (p.Ala396=)
c.1902C>A (p.Ala634=)
c.2880C>A (p.Ala960=)
n.2698C>A
n.2906C>A
1g.197429517C=CA1218065607CRB1c.2745C= (p.Ala915=)
c.1626C= (p.Ala542=)
c.888C= (p.Ala296=)
c.2409C= (p.Ala803=)
c.2673C= (p.Ala891=)
c.2129-6083C= (n.2129-6083C=)
n.2746C=
n.2954C=
c.2163C= (p.Ala721=)
c.1188C= (p.Ala396=)
c.1902C= (p.Ala634=)
c.2880C= (p.Ala960=)
n.2698C=
n.2906C=
1g.197429517C>GCA422672291CRB1c.2745C>G (p.Ala915=)
c.1626C>G (p.Ala542=)
c.888C>G (p.Ala296=)
c.2409C>G (p.Ala803=)
c.2673C>G (p.Ala891=)
c.2129-6083C>G (n.2129-6083C>G)
n.2746C>G
n.2954C>G
c.2163C>G (p.Ala721=)
c.1188C>G (p.Ala396=)
c.1902C>G (p.Ala634=)
c.2880C>G (p.Ala960=)
n.2698C>G
n.2906C>G
1g.197429517C>TCA422672289CRB1c.2745C>T (p.Ala915=)
c.1626C>T (p.Ala542=)
c.888C>T (p.Ala296=)
c.2409C>T (p.Ala803=)
c.2673C>T (p.Ala891=)
c.2129-6083C>T (n.2129-6083C>T)
n.2746C>T
n.2954C>T
c.2163C>T (p.Ala721=)
c.1188C>T (p.Ala396=)
c.1902C>T (p.Ala634=)
c.2880C>T (p.Ala960=)
n.2698C>T
n.2906C>T
 ClinVar dbSNP
1g.197429518C>ACA344040726CRB1c.2746C>A (p.Leu916Ile)
c.1627C>A (p.Leu543Ile)
c.889C>A (p.Leu297Ile)
c.2410C>A (p.Leu804Ile)
c.2674C>A (p.Leu892Ile)
c.2129-6082C>A (n.2129-6082C>A)
n.2747C>A
n.2955C>A
c.2164C>A (p.Leu722Ile)
c.1189C>A (p.Leu397Ile)
c.1903C>A (p.Leu635Ile)
c.2881C>A (p.Leu961Ile)
n.2699C>A
n.2907C>A
1g.197429518C=CA1141755924CRB1c.2746C= (p.Leu916=)
c.1627C= (p.Leu543=)
c.889C= (p.Leu297=)
c.2410C= (p.Leu804=)
c.2674C= (p.Leu892=)
c.2129-6082C= (n.2129-6082C=)
n.2747C=
n.2955C=
c.2164C= (p.Leu722=)
c.1189C= (p.Leu397=)
c.1903C= (p.Leu635=)
c.2881C= (p.Leu961=)
n.2699C=
n.2907C=
1g.197429518C>GCA344040728CRB1c.2746C>G (p.Leu916Val)
c.1627C>G (p.Leu543Val)
c.889C>G (p.Leu297Val)
c.2410C>G (p.Leu804Val)
c.2674C>G (p.Leu892Val)
c.2129-6082C>G (n.2129-6082C>G)
n.2747C>G
n.2955C>G
c.2164C>G (p.Leu722Val)
c.1189C>G (p.Leu397Val)
c.1903C>G (p.Leu635Val)
c.2881C>G (p.Leu961Val)
n.2699C>G
n.2907C>G
1g.197429518C>TCA1312198CRB1c.2746C>T (p.Leu916Phe)
c.1627C>T (p.Leu543Phe)
c.889C>T (p.Leu297Phe)
c.2410C>T (p.Leu804Phe)
c.2674C>T (p.Leu892Phe)
c.2129-6082C>T (n.2129-6082C>T)
n.2747C>T
n.2955C>T
c.2164C>T (p.Leu722Phe)
c.1189C>T (p.Leu397Phe)
c.1903C>T (p.Leu635Phe)
c.2881C>T (p.Leu961Phe)
n.2699C>T
n.2907C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197429519T>ACA344040733CRB1c.2747T>A (p.Leu916His)
c.1628T>A (p.Leu543His)
c.890T>A (p.Leu297His)
c.2411T>A (p.Leu804His)
c.2675T>A (p.Leu892His)
c.2129-6081T>A (n.2129-6081T>A)
n.2748T>A
n.2956T>A
c.2165T>A (p.Leu722His)
c.1190T>A (p.Leu397His)
c.1904T>A (p.Leu635His)
c.2882T>A (p.Leu961His)
n.2700T>A
n.2908T>A
 dbSNP
1g.197429519T>CCA344040737CRB1c.2747T>C (p.Leu916Pro)
c.1628T>C (p.Leu543Pro)
c.890T>C (p.Leu297Pro)
c.2411T>C (p.Leu804Pro)
c.2675T>C (p.Leu892Pro)
c.2129-6081T>C (n.2129-6081T>C)
n.2748T>C
n.2956T>C
c.2165T>C (p.Leu722Pro)
c.1190T>C (p.Leu397Pro)
c.1904T>C (p.Leu635Pro)
c.2882T>C (p.Leu961Pro)
n.2700T>C
n.2908T>C
1g.197429519T>GCA344040740CRB1c.2747T>G (p.Leu916Arg)
c.1628T>G (p.Leu543Arg)
c.890T>G (p.Leu297Arg)
c.2411T>G (p.Leu804Arg)
c.2675T>G (p.Leu892Arg)
c.2129-6081T>G (n.2129-6081T>G)
n.2748T>G
n.2956T>G
c.2165T>G (p.Leu722Arg)
c.1190T>G (p.Leu397Arg)
c.1904T>G (p.Leu635Arg)
c.2882T>G (p.Leu961Arg)
n.2700T>G
n.2908T>G
1g.197429520C>ACA422672292CRB1c.2748C>A (p.Leu916=)
c.1629C>A (p.Leu543=)
c.891C>A (p.Leu297=)
c.2412C>A (p.Leu804=)
c.2676C>A (p.Leu892=)
c.2129-6080C>A (n.2129-6080C>A)
n.2749C>A
n.2957C>A
c.2166C>A (p.Leu722=)
c.1191C>A (p.Leu397=)
c.1905C>A (p.Leu635=)
c.2883C>A (p.Leu961=)
n.2701C>A
n.2909C>A
1g.197429520C=CA1218065620CRB1c.2748C= (p.Leu916=)
c.1629C= (p.Leu543=)
c.891C= (p.Leu297=)
c.2412C= (p.Leu804=)
c.2676C= (p.Leu892=)
c.2129-6080C= (n.2129-6080C=)
n.2749C=
n.2957C=
c.2166C= (p.Leu722=)
c.1191C= (p.Leu397=)
c.1905C= (p.Leu635=)
c.2883C= (p.Leu961=)
n.2701C=
n.2909C=
1g.197429520C>GCA422672293CRB1c.2748C>G (p.Leu916=)
c.1629C>G (p.Leu543=)
c.891C>G (p.Leu297=)
c.2412C>G (p.Leu804=)
c.2676C>G (p.Leu892=)
c.2129-6080C>G (n.2129-6080C>G)
n.2749C>G
n.2957C>G
c.2166C>G (p.Leu722=)
c.1191C>G (p.Leu397=)
c.1905C>G (p.Leu635=)
c.2883C>G (p.Leu961=)
n.2701C>G
n.2909C>G
1g.197429520C>TCA422672294CRB1c.2748C>T (p.Leu916=)
c.1629C>T (p.Leu543=)
c.891C>T (p.Leu297=)
c.2412C>T (p.Leu804=)
c.2676C>T (p.Leu892=)
c.2129-6080C>T (n.2129-6080C>T)
n.2749C>T
n.2957C>T
c.2166C>T (p.Leu722=)
c.1191C>T (p.Leu397=)
c.1905C>T (p.Leu635=)
c.2883C>T (p.Leu961=)
n.2701C>T
n.2909C>T
 ClinVar dbSNP gnomAD v4
1g.197429521A>CCA344040763CRB1c.2749A>C (p.Thr917Pro)
c.1630A>C (p.Thr544Pro)
c.892A>C (p.Thr298Pro)
c.2413A>C (p.Thr805Pro)
c.2677A>C (p.Thr893Pro)
c.2129-6079A>C (n.2129-6079A>C)
n.2750A>C
n.2958A>C
c.2167A>C (p.Thr723Pro)
c.1192A>C (p.Thr398Pro)
c.1906A>C (p.Thr636Pro)
c.2884A>C (p.Thr962Pro)
n.2702A>C
n.2910A>C
1g.197429521A>GCA344040755CRB1c.2749A>G (p.Thr917Ala)
c.1630A>G (p.Thr544Ala)
c.892A>G (p.Thr298Ala)
c.2413A>G (p.Thr805Ala)
c.2677A>G (p.Thr893Ala)
c.2129-6079A>G (n.2129-6079A>G)
n.2750A>G
n.2958A>G
c.2167A>G (p.Thr723Ala)
c.1192A>G (p.Thr398Ala)
c.1906A>G (p.Thr636Ala)
c.2884A>G (p.Thr962Ala)
n.2702A>G
n.2910A>G
 gnomAD v4
1g.197429521A>TCA344040761CRB1c.2749A>T (p.Thr917Ser)
c.1630A>T (p.Thr544Ser)
c.892A>T (p.Thr298Ser)
c.2413A>T (p.Thr805Ser)
c.2677A>T (p.Thr893Ser)
c.2129-6079A>T (n.2129-6079A>T)
n.2750A>T
n.2958A>T
c.2167A>T (p.Thr723Ser)
c.1192A>T (p.Thr398Ser)
c.1906A>T (p.Thr636Ser)
c.2884A>T (p.Thr962Ser)
n.2702A>T
n.2910A>T
1g.197429522C>ACA344040770CRB1c.2750C>A (p.Thr917Lys)
c.1631C>A (p.Thr544Lys)
c.893C>A (p.Thr298Lys)
c.2414C>A (p.Thr805Lys)
c.2678C>A (p.Thr893Lys)
c.2129-6078C>A (n.2129-6078C>A)
n.2751C>A
n.2959C>A
c.2168C>A (p.Thr723Lys)
c.1193C>A (p.Thr398Lys)
c.1907C>A (p.Thr636Lys)
c.2885C>A (p.Thr962Lys)
n.2703C>A
n.2911C>A
1g.197429522C=CA1218065621CRB1c.2750C= (p.Thr917=)
c.1631C= (p.Thr544=)
c.893C= (p.Thr298=)
c.2414C= (p.Thr805=)
c.2678C= (p.Thr893=)
c.2129-6078C= (n.2129-6078C=)
n.2751C=
n.2959C=
c.2168C= (p.Thr723=)
c.1193C= (p.Thr398=)
c.1907C= (p.Thr636=)
c.2885C= (p.Thr962=)
n.2703C=
n.2911C=
1g.197429522C>GCA344040776CRB1c.2750C>G (p.Thr917Arg)
c.1631C>G (p.Thr544Arg)
c.893C>G (p.Thr298Arg)
c.2414C>G (p.Thr805Arg)
c.2678C>G (p.Thr893Arg)
c.2129-6078C>G (n.2129-6078C>G)
n.2751C>G
n.2959C>G
c.2168C>G (p.Thr723Arg)
c.1193C>G (p.Thr398Arg)
c.1907C>G (p.Thr636Arg)
c.2885C>G (p.Thr962Arg)
n.2703C>G
n.2911C>G
1g.197429522C>TCA344040779CRB1c.2750C>T (p.Thr917Ile)
c.1631C>T (p.Thr544Ile)
c.893C>T (p.Thr298Ile)
c.2414C>T (p.Thr805Ile)
c.2678C>T (p.Thr893Ile)
c.2129-6078C>T (n.2129-6078C>T)
n.2751C>T
n.2959C>T
c.2168C>T (p.Thr723Ile)
c.1193C>T (p.Thr398Ile)
c.1907C>T (p.Thr636Ile)
c.2885C>T (p.Thr962Ile)
n.2703C>T
n.2911C>T
 dbSNP
1g.197429523A=CA1218065626CRB1c.2751A= (p.Thr917=)
c.1632A= (p.Thr544=)
c.894A= (p.Thr298=)
c.2415A= (p.Thr805=)
c.2679A= (p.Thr893=)
c.2129-6077A= (n.2129-6077A=)
n.2752A=
n.2960A=
c.2169A= (p.Thr723=)
c.1194A= (p.Thr398=)
c.1908A= (p.Thr636=)
c.2886A= (p.Thr962=)
n.2704A=
n.2912A=
1g.197429523A>CCA422672295CRB1c.2751A>C (p.Thr917=)
c.1632A>C (p.Thr544=)
c.894A>C (p.Thr298=)
c.2415A>C (p.Thr805=)
c.2679A>C (p.Thr893=)
c.2129-6077A>C (n.2129-6077A>C)
n.2752A>C
n.2960A>C
c.2169A>C (p.Thr723=)
c.1194A>C (p.Thr398=)
c.1908A>C (p.Thr636=)
c.2886A>C (p.Thr962=)
n.2704A>C
n.2912A>C
1g.197429523A>GCA422672296CRB1c.2751A>G (p.Thr917=)
c.1632A>G (p.Thr544=)
c.894A>G (p.Thr298=)
c.2415A>G (p.Thr805=)
c.2679A>G (p.Thr893=)
c.2129-6077A>G (n.2129-6077A>G)
n.2752A>G
n.2960A>G
c.2169A>G (p.Thr723=)
c.1194A>G (p.Thr398=)
c.1908A>G (p.Thr636=)
c.2886A>G (p.Thr962=)
n.2704A>G
n.2912A>G
 ClinVar dbSNP
1g.197429523A>TCA35902488CRB1c.2751A>T (p.Thr917=)
c.1632A>T (p.Thr544=)
c.894A>T (p.Thr298=)
c.2415A>T (p.Thr805=)
c.2679A>T (p.Thr893=)
c.2129-6077A>T (n.2129-6077A>T)
n.2752A>T
n.2960A>T
c.2169A>T (p.Thr723=)
c.1194A>T (p.Thr398=)
c.1908A>T (p.Thr636=)
c.2886A>T (p.Thr962=)
n.2704A>T
n.2912A>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.197429524A=CA1218065632CRB1c.2752A= (p.Ser918=)
c.1633A= (p.Ser545=)
c.895A= (p.Ser299=)
c.2416A= (p.Ser806=)
c.2680A= (p.Ser894=)
c.2129-6076A= (n.2129-6076A=)
n.2753A=
n.2961A=
c.2170A= (p.Ser724=)
c.1195A= (p.Ser399=)
c.1909A= (p.Ser637=)
c.2887A= (p.Ser963=)
n.2705A=
n.2913A=
1g.197429524A>CCA344040785CRB1c.2752A>C (p.Ser918Arg)
c.1633A>C (p.Ser545Arg)
c.895A>C (p.Ser299Arg)
c.2416A>C (p.Ser806Arg)
c.2680A>C (p.Ser894Arg)
c.2129-6076A>C (n.2129-6076A>C)
n.2753A>C
n.2961A>C
c.2170A>C (p.Ser724Arg)
c.1195A>C (p.Ser399Arg)
c.1909A>C (p.Ser637Arg)
c.2887A>C (p.Ser963Arg)
n.2705A>C
n.2913A>C
1g.197429524A>GCA1312199CRB1c.2752A>G (p.Ser918Gly)
c.1633A>G (p.Ser545Gly)
c.895A>G (p.Ser299Gly)
c.2416A>G (p.Ser806Gly)
c.2680A>G (p.Ser894Gly)
c.2129-6076A>G (n.2129-6076A>G)
n.2753A>G
n.2961A>G
c.2170A>G (p.Ser724Gly)
c.1195A>G (p.Ser399Gly)
c.1909A>G (p.Ser637Gly)
c.2887A>G (p.Ser963Gly)
n.2705A>G
n.2913A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197429524A>TCA35902500CRB1c.2752A>T (p.Ser918Cys)
c.1633A>T (p.Ser545Cys)
c.895A>T (p.Ser299Cys)
c.2416A>T (p.Ser806Cys)
c.2680A>T (p.Ser894Cys)
c.2129-6076A>T (n.2129-6076A>T)
n.2753A>T
n.2961A>T
c.2170A>T (p.Ser724Cys)
c.1195A>T (p.Ser399Cys)
c.1909A>T (p.Ser637Cys)
c.2887A>T (p.Ser963Cys)
n.2705A>T
n.2913A>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197429525G>ACA344040812CRB1c.2753G>A (p.Ser918Asn)
c.1634G>A (p.Ser545Asn)
c.896G>A (p.Ser299Asn)
c.2417G>A (p.Ser806Asn)
c.2681G>A (p.Ser894Asn)
c.2129-6075G>A (n.2129-6075G>A)
n.2754G>A
n.2962G>A
c.2171G>A (p.Ser724Asn)
c.1196G>A (p.Ser399Asn)
c.1910G>A (p.Ser637Asn)
c.2888G>A (p.Ser963Asn)
n.2706G>A
n.2914G>A
 dbSNP gnomAD v3 gnomAD v4
1g.197429525G>CCA344040815CRB1c.2753G>C (p.Ser918Thr)
c.1634G>C (p.Ser545Thr)
c.896G>C (p.Ser299Thr)
c.2417G>C (p.Ser806Thr)
c.2681G>C (p.Ser894Thr)
c.2129-6075G>C (n.2129-6075G>C)
n.2754G>C
n.2962G>C
c.2171G>C (p.Ser724Thr)
c.1196G>C (p.Ser399Thr)
c.1910G>C (p.Ser637Thr)
c.2888G>C (p.Ser963Thr)
n.2706G>C
n.2914G>C
1g.197429525G=CA1218065639CRB1c.2753G= (p.Ser918=)
c.1634G= (p.Ser545=)
c.896G= (p.Ser299=)
c.2417G= (p.Ser806=)
c.2681G= (p.Ser894=)
c.2129-6075G= (n.2129-6075G=)
n.2754G=
n.2962G=
c.2171G= (p.Ser724=)
c.1196G= (p.Ser399=)
c.1910G= (p.Ser637=)
c.2888G= (p.Ser963=)
n.2706G=
n.2914G=
1g.197429525G>TCA344040822CRB1c.2753G>T (p.Ser918Ile)
c.1634G>T (p.Ser545Ile)
c.896G>T (p.Ser299Ile)
c.2417G>T (p.Ser806Ile)
c.2681G>T (p.Ser894Ile)
c.2129-6075G>T (n.2129-6075G>T)
n.2754G>T
n.2962G>T
c.2171G>T (p.Ser724Ile)
c.1196G>T (p.Ser399Ile)
c.1910G>T (p.Ser637Ile)
c.2888G>T (p.Ser963Ile)
n.2706G>T
n.2914G>T
1g.197429526T>ACA344040828CRB1c.2754T>A (p.Ser918Arg)
c.1635T>A (p.Ser545Arg)
c.897T>A (p.Ser299Arg)
c.2418T>A (p.Ser806Arg)
c.2682T>A (p.Ser894Arg)
c.2129-6074T>A (n.2129-6074T>A)
n.2755T>A
n.2963T>A
c.2172T>A (p.Ser724Arg)
c.1197T>A (p.Ser399Arg)
c.1911T>A (p.Ser637Arg)
c.2889T>A (p.Ser963Arg)
n.2707T>A
n.2915T>A
1g.197429526T>CCA422672297CRB1c.2754T>C (p.Ser918=)
c.1635T>C (p.Ser545=)
c.897T>C (p.Ser299=)
c.2418T>C (p.Ser806=)
c.2682T>C (p.Ser894=)
c.2129-6074T>C (n.2129-6074T>C)
n.2755T>C
n.2963T>C
c.2172T>C (p.Ser724=)
c.1197T>C (p.Ser399=)
c.1911T>C (p.Ser637=)
c.2889T>C (p.Ser963=)
n.2707T>C
n.2915T>C
 gnomAD v4
1g.197429526T>GCA344040829CRB1c.2754T>G (p.Ser918Arg)
c.1635T>G (p.Ser545Arg)
c.897T>G (p.Ser299Arg)
c.2418T>G (p.Ser806Arg)
c.2682T>G (p.Ser894Arg)
c.2129-6074T>G (n.2129-6074T>G)
n.2755T>G
n.2963T>G
c.2172T>G (p.Ser724Arg)
c.1197T>G (p.Ser399Arg)
c.1911T>G (p.Ser637Arg)
c.2889T>G (p.Ser963Arg)
n.2707T>G
n.2915T>G
1g.197429527G>ACA344040834CRB1c.2755G>A (p.Gly919Arg)
c.1636G>A (p.Gly546Arg)
c.898G>A (p.Gly300Arg)
c.2419G>A (p.Gly807Arg)
c.2683G>A (p.Gly895Arg)
c.2129-6073G>A (n.2129-6073G>A)
n.2756G>A
n.2964G>A
c.2173G>A (p.Gly725Arg)
c.1198G>A (p.Gly400Arg)
c.1912G>A (p.Gly638Arg)
c.2890G>A (p.Gly964Arg)
n.2708G>A
n.2916G>A
 COSMIC COSMIC
1g.197429527G>CCA344040831CRB1c.2755G>C (p.Gly919Arg)
c.1636G>C (p.Gly546Arg)
c.898G>C (p.Gly300Arg)
c.2419G>C (p.Gly807Arg)
c.2683G>C (p.Gly895Arg)
c.2129-6073G>C (n.2129-6073G>C)
n.2756G>C
n.2964G>C
c.2173G>C (p.Gly725Arg)
c.1198G>C (p.Gly400Arg)
c.1912G>C (p.Gly638Arg)
c.2890G>C (p.Gly964Arg)
n.2708G>C
n.2916G>C
1g.197429527G=CA1218065644CRB1c.2755G= (p.Gly919=)
c.1636G= (p.Gly546=)
c.898G= (p.Gly300=)
c.2419G= (p.Gly807=)
c.2683G= (p.Gly895=)
c.2129-6073G= (n.2129-6073G=)
n.2756G=
n.2964G=
c.2173G= (p.Gly725=)
c.1198G= (p.Gly400=)
c.1912G= (p.Gly638=)
c.2890G= (p.Gly964=)
n.2708G=
n.2916G=
1g.197429527G>TCA344040830CRB1c.2755G>T (p.Gly919Trp)
c.1636G>T (p.Gly546Trp)
c.898G>T (p.Gly300Trp)
c.2419G>T (p.Gly807Trp)
c.2683G>T (p.Gly895Trp)
c.2129-6073G>T (n.2129-6073G>T)
n.2756G>T
n.2964G>T
c.2173G>T (p.Gly725Trp)
c.1198G>T (p.Gly400Trp)
c.1912G>T (p.Gly638Trp)
c.2890G>T (p.Gly964Trp)
n.2708G>T
n.2916G>T
 dbSNP gnomAD v2 gnomAD v4
1g.197429528G>ACA344040840CRB1c.2756G>A (p.Gly919Glu)
c.1637G>A (p.Gly546Glu)
c.899G>A (p.Gly300Glu)
c.2420G>A (p.Gly807Glu)
c.2684G>A (p.Gly895Glu)
c.2129-6072G>A (n.2129-6072G>A)
n.2757G>A
n.2965G>A
c.2174G>A (p.Gly725Glu)
c.1199G>A (p.Gly400Glu)
c.1913G>A (p.Gly638Glu)
c.2891G>A (p.Gly964Glu)
n.2709G>A
n.2917G>A
1g.197429528G>CCA344040847CRB1c.2756G>C (p.Gly919Ala)
c.1637G>C (p.Gly546Ala)
c.899G>C (p.Gly300Ala)
c.2420G>C (p.Gly807Ala)
c.2684G>C (p.Gly895Ala)
c.2129-6072G>C (n.2129-6072G>C)
n.2757G>C
n.2965G>C
c.2174G>C (p.Gly725Ala)
c.1199G>C (p.Gly400Ala)
c.1913G>C (p.Gly638Ala)
c.2891G>C (p.Gly964Ala)
n.2709G>C
n.2917G>C
1g.197429528G>TCA344040850CRB1c.2756G>T (p.Gly919Val)
c.1637G>T (p.Gly546Val)
c.899G>T (p.Gly300Val)
c.2420G>T (p.Gly807Val)
c.2684G>T (p.Gly895Val)
c.2129-6072G>T (n.2129-6072G>T)
n.2757G>T
n.2965G>T
c.2174G>T (p.Gly725Val)
c.1199G>T (p.Gly400Val)
c.1913G>T (p.Gly638Val)
c.2891G>T (p.Gly964Val)
n.2709G>T
n.2917G>T
1g.197429528_197429529insTCA2747247997CRB1c.2756_2757insT (p.Lys920GlufsTer4)
c.1637_1638insT (p.Lys547GlufsTer4)
c.899_900insT (p.Lys301GlufsTer4)
c.2420_2421insT (p.Lys808GlufsTer4)
c.2684_2685insT (p.Lys896GlufsTer4)
c.2129-6072_2129-6071insT (n.2129-6072_2129-6071insT)
n.2757_2758insT
n.2965_2966insT
c.2174_2175insT (p.Lys726GlufsTer4)
c.1199_1200insT (p.Lys401GlufsTer4)
c.1913_1914insT (p.Lys639GlufsTer4)
c.2891_2892insT (p.Lys965GlufsTer4)
n.2709_2710insT
n.2917_2918insT
1g.197429529G>ACA422672301CRB1c.2757G>A (p.Gly919=)
c.1638G>A (p.Gly546=)
c.900G>A (p.Gly300=)
c.2421G>A (p.Gly807=)
c.2685G>A (p.Gly895=)
c.2129-6071G>A (n.2129-6071G>A)
n.2758G>A
n.2966G>A
c.2175G>A (p.Gly725=)
c.1200G>A (p.Gly400=)
c.1914G>A (p.Gly638=)
c.2892G>A (p.Gly964=)
n.2710G>A
n.2918G>A
 COSMIC
1g.197429529G>CCA422672302CRB1c.2757G>C (p.Gly919=)
c.1638G>C (p.Gly546=)
c.900G>C (p.Gly300=)
c.2421G>C (p.Gly807=)
c.2685G>C (p.Gly895=)
c.2129-6071G>C (n.2129-6071G>C)
n.2758G>C
n.2966G>C
c.2175G>C (p.Gly725=)
c.1200G>C (p.Gly400=)
c.1914G>C (p.Gly638=)
c.2892G>C (p.Gly964=)
n.2710G>C
n.2918G>C
1g.197429529G>TCA422672303CRB1c.2757G>T (p.Gly919=)
c.1638G>T (p.Gly546=)
c.900G>T (p.Gly300=)
c.2421G>T (p.Gly807=)
c.2685G>T (p.Gly895=)
c.2129-6071G>T (n.2129-6071G>T)
n.2758G>T
n.2966G>T
c.2175G>T (p.Gly725=)
c.1200G>T (p.Gly400=)
c.1914G>T (p.Gly638=)
c.2892G>T (p.Gly964=)
n.2710G>T
n.2918G>T
1g.197429530A>CCA344040856CRB1c.2758A>C (p.Lys920Gln)
c.1639A>C (p.Lys547Gln)
c.901A>C (p.Lys301Gln)
c.2422A>C (p.Lys808Gln)
c.2686A>C (p.Lys896Gln)
c.2129-6070A>C (n.2129-6070A>C)
n.2759A>C
n.2967A>C
c.2176A>C (p.Lys726Gln)
c.1201A>C (p.Lys401Gln)
c.1915A>C (p.Lys639Gln)
c.2893A>C (p.Lys965Gln)
n.2711A>C
n.2919A>C
1g.197429530A>GCA344040860CRB1c.2758A>G (p.Lys920Glu)
c.1639A>G (p.Lys547Glu)
c.901A>G (p.Lys301Glu)
c.2422A>G (p.Lys808Glu)
c.2686A>G (p.Lys896Glu)
c.2129-6070A>G (n.2129-6070A>G)
n.2759A>G
n.2967A>G
c.2176A>G (p.Lys726Glu)
c.1201A>G (p.Lys401Glu)
c.1915A>G (p.Lys639Glu)
c.2893A>G (p.Lys965Glu)
n.2711A>G
n.2919A>G
1g.197429530A>TCA344040861CRB1c.2758A>T (p.Lys920Ter)
c.1639A>T (p.Lys547Ter)
c.901A>T (p.Lys301Ter)
c.2422A>T (p.Lys808Ter)
c.2686A>T (p.Lys896Ter)
c.2129-6070A>T (n.2129-6070A>T)
n.2759A>T
n.2967A>T
c.2176A>T (p.Lys726Ter)
c.1201A>T (p.Lys401Ter)
c.1915A>T (p.Lys639Ter)
c.2893A>T (p.Lys965Ter)
n.2711A>T
n.2919A>T
1g.197429531A>CCA344040866CRB1c.2759A>C (p.Lys920Thr)
c.1640A>C (p.Lys547Thr)
c.902A>C (p.Lys301Thr)
c.2423A>C (p.Lys808Thr)
c.2687A>C (p.Lys896Thr)
c.2129-6069A>C (n.2129-6069A>C)
n.2760A>C
n.2968A>C
c.2177A>C (p.Lys726Thr)
c.1202A>C (p.Lys401Thr)
c.1916A>C (p.Lys639Thr)
c.2894A>C (p.Lys965Thr)
n.2712A>C
n.2920A>C
1g.197429531A>GCA344040862CRB1c.2759A>G (p.Lys920Arg)
c.1640A>G (p.Lys547Arg)
c.902A>G (p.Lys301Arg)
c.2423A>G (p.Lys808Arg)
c.2687A>G (p.Lys896Arg)
c.2129-6069A>G (n.2129-6069A>G)
n.2760A>G
n.2968A>G
c.2177A>G (p.Lys726Arg)
c.1202A>G (p.Lys401Arg)
c.1916A>G (p.Lys639Arg)
c.2894A>G (p.Lys965Arg)
n.2712A>G
n.2920A>G
1g.197429531A>TCA344040863CRB1c.2759A>T (p.Lys920Ile)
c.1640A>T (p.Lys547Ile)
c.902A>T (p.Lys301Ile)
c.2423A>T (p.Lys808Ile)
c.2687A>T (p.Lys896Ile)
c.2129-6069A>T (n.2129-6069A>T)
n.2760A>T
n.2968A>T
c.2177A>T (p.Lys726Ile)
c.1202A>T (p.Lys401Ile)
c.1916A>T (p.Lys639Ile)
c.2894A>T (p.Lys965Ile)
n.2712A>T
n.2920A>T
1g.197429532A>CCA344040868CRB1c.2760A>C (p.Lys920Asn)
c.1641A>C (p.Lys547Asn)
c.903A>C (p.Lys301Asn)
c.2424A>C (p.Lys808Asn)
c.2688A>C (p.Lys896Asn)
c.2129-6068A>C (n.2129-6068A>C)
n.2761A>C
n.2969A>C
c.2178A>C (p.Lys726Asn)
c.1203A>C (p.Lys401Asn)
c.1917A>C (p.Lys639Asn)
c.2895A>C (p.Lys965Asn)
n.2713A>C
n.2921A>C
1g.197429532A>GCA422672307CRB1c.2760A>G (p.Lys920=)
c.1641A>G (p.Lys547=)
c.903A>G (p.Lys301=)
c.2424A>G (p.Lys808=)
c.2688A>G (p.Lys896=)
c.2129-6068A>G (n.2129-6068A>G)
n.2761A>G
n.2969A>G
c.2178A>G (p.Lys726=)
c.1203A>G (p.Lys401=)
c.1917A>G (p.Lys639=)
c.2895A>G (p.Lys965=)
n.2713A>G
n.2921A>G
1g.197429532A>TCA344040872CRB1c.2760A>T (p.Lys920Asn)
c.1641A>T (p.Lys547Asn)
c.903A>T (p.Lys301Asn)
c.2424A>T (p.Lys808Asn)
c.2688A>T (p.Lys896Asn)
c.2129-6068A>T (n.2129-6068A>T)
n.2761A>T
n.2969A>T
c.2178A>T (p.Lys726Asn)
c.1203A>T (p.Lys401Asn)
c.1917A>T (p.Lys639Asn)
c.2895A>T (p.Lys965Asn)
n.2713A>T
n.2921A>T
1g.197429533G>ACA35902504CRB1c.2761G>A (p.Ala921Thr)
c.1642G>A (p.Ala548Thr)
c.904G>A (p.Ala302Thr)
c.2425G>A (p.Ala809Thr)
c.2689G>A (p.Ala897Thr)
c.2129-6067G>A (n.2129-6067G>A)
n.2762G>A
n.2970G>A
c.2179G>A (p.Ala727Thr)
c.1204G>A (p.Ala402Thr)
c.1918G>A (p.Ala640Thr)
c.2896G>A (p.Ala966Thr)
n.2714G>A
n.2922G>A
 dbSNP gnomAD v4 COSMIC
1g.197429533G>CCA344040893CRB1c.2761G>C (p.Ala921Pro)
c.1642G>C (p.Ala548Pro)
c.904G>C (p.Ala302Pro)
c.2425G>C (p.Ala809Pro)
c.2689G>C (p.Ala897Pro)
c.2129-6067G>C (n.2129-6067G>C)
n.2762G>C
n.2970G>C
c.2179G>C (p.Ala727Pro)
c.1204G>C (p.Ala402Pro)
c.1918G>C (p.Ala640Pro)
c.2896G>C (p.Ala966Pro)
n.2714G>C
n.2922G>C
1g.197429533G=CA1218065652CRB1c.2761G= (p.Ala921=)
c.1642G= (p.Ala548=)
c.904G= (p.Ala302=)
c.2425G= (p.Ala809=)
c.2689G= (p.Ala897=)
c.2129-6067G= (n.2129-6067G=)
n.2762G=
n.2970G=
c.2179G= (p.Ala727=)
c.1204G= (p.Ala402=)
c.1918G= (p.Ala640=)
c.2896G= (p.Ala966=)
n.2714G=
n.2922G=
1g.197429533G>TCA344040895CRB1c.2761G>T (p.Ala921Ser)
c.1642G>T (p.Ala548Ser)
c.904G>T (p.Ala302Ser)
c.2425G>T (p.Ala809Ser)
c.2689G>T (p.Ala897Ser)
c.2129-6067G>T (n.2129-6067G>T)
n.2762G>T
n.2970G>T
c.2179G>T (p.Ala727Ser)
c.1204G>T (p.Ala402Ser)
c.1918G>T (p.Ala640Ser)
c.2896G>T (p.Ala966Ser)
n.2714G>T
n.2922G>T
 dbSNP gnomAD v4
1g.197429534C>ACA344040901CRB1c.2762C>A (p.Ala921Asp)
c.1643C>A (p.Ala548Asp)
c.905C>A (p.Ala302Asp)
c.2426C>A (p.Ala809Asp)
c.2690C>A (p.Ala897Asp)
c.2129-6066C>A (n.2129-6066C>A)
n.2763C>A
n.2971C>A
c.2180C>A (p.Ala727Asp)
c.1205C>A (p.Ala402Asp)
c.1919C>A (p.Ala640Asp)
c.2897C>A (p.Ala966Asp)
n.2715C>A
n.2923C>A
1g.197429534C=CA1218065659CRB1c.2762C= (p.Ala921=)
c.1643C= (p.Ala548=)
c.905C= (p.Ala302=)
c.2426C= (p.Ala809=)
c.2690C= (p.Ala897=)
c.2129-6066C= (n.2129-6066C=)
n.2763C=
n.2971C=
c.2180C= (p.Ala727=)
c.1205C= (p.Ala402=)
c.1919C= (p.Ala640=)
c.2897C= (p.Ala966=)
n.2715C=
n.2923C=
1g.197429534C>GCA1312201CRB1c.2762C>G (p.Ala921Gly)
c.1643C>G (p.Ala548Gly)
c.905C>G (p.Ala302Gly)
c.2426C>G (p.Ala809Gly)
c.2690C>G (p.Ala897Gly)
c.2129-6066C>G (n.2129-6066C>G)
n.2763C>G
n.2971C>G
c.2180C>G (p.Ala727Gly)
c.1205C>G (p.Ala402Gly)
c.1919C>G (p.Ala640Gly)
c.2897C>G (p.Ala966Gly)
n.2715C>G
n.2923C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197429534C>TCA1312200CRB1c.2762C>T (p.Ala921Val)
c.1643C>T (p.Ala548Val)
c.905C>T (p.Ala302Val)
c.2426C>T (p.Ala809Val)
c.2690C>T (p.Ala897Val)
c.2129-6066C>T (n.2129-6066C>T)
n.2763C>T
n.2971C>T
c.2180C>T (p.Ala727Val)
c.1205C>T (p.Ala402Val)
c.1919C>T (p.Ala640Val)
c.2897C>T (p.Ala966Val)
n.2715C>T
n.2923C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.197429535C>ACA422672308CRB1c.2763C>A (p.Ala921=)
c.1644C>A (p.Ala548=)
c.906C>A (p.Ala302=)
c.2427C>A (p.Ala809=)
c.2691C>A (p.Ala897=)
c.2129-6065C>A (n.2129-6065C>A)
n.2764C>A
n.2972C>A
c.2181C>A (p.Ala727=)
c.1206C>A (p.Ala402=)
c.1920C>A (p.Ala640=)
c.2898C>A (p.Ala966=)
n.2716C>A
n.2924C>A
1g.197429535C>GCA422672309CRB1c.2763C>G (p.Ala921=)
c.1644C>G (p.Ala548=)
c.906C>G (p.Ala302=)
c.2427C>G (p.Ala809=)
c.2691C>G (p.Ala897=)
c.2129-6065C>G (n.2129-6065C>G)
n.2764C>G
n.2972C>G
c.2181C>G (p.Ala727=)
c.1206C>G (p.Ala402=)
c.1920C>G (p.Ala640=)
c.2898C>G (p.Ala966=)
n.2716C>G
n.2924C>G
 ClinVar dbSNP
1g.197429535C>TCA422672310CRB1c.2763C>T (p.Ala921=)
c.1644C>T (p.Ala548=)
c.906C>T (p.Ala302=)
c.2427C>T (p.Ala809=)
c.2691C>T (p.Ala897=)
c.2129-6065C>T (n.2129-6065C>T)
n.2764C>T
n.2972C>T
c.2181C>T (p.Ala727=)
c.1206C>T (p.Ala402=)
c.1920C>T (p.Ala640=)
c.2898C>T (p.Ala966=)
n.2716C>T
n.2924C>T
1g.197429536T>ACA344040903CRB1c.2764T>A (p.Cys922Ser)
c.1645T>A (p.Cys549Ser)
c.907T>A (p.Cys303Ser)
c.2428T>A (p.Cys810Ser)
c.2692T>A (p.Cys898Ser)
c.2129-6064T>A (n.2129-6064T>A)
n.2765T>A
n.2973T>A
c.2182T>A (p.Cys728Ser)
c.1207T>A (p.Cys403Ser)
c.1921T>A (p.Cys641Ser)
c.2899T>A (p.Cys967Ser)
n.2717T>A
n.2925T>A
1g.197429536T>CCA344040906CRB1c.2764T>C (p.Cys922Arg)
c.1645T>C (p.Cys549Arg)
c.907T>C (p.Cys303Arg)
c.2428T>C (p.Cys810Arg)
c.2692T>C (p.Cys898Arg)
c.2129-6064T>C (n.2129-6064T>C)
n.2765T>C
n.2973T>C
c.2182T>C (p.Cys728Arg)
c.1207T>C (p.Cys403Arg)
c.1921T>C (p.Cys641Arg)
c.2899T>C (p.Cys967Arg)
n.2717T>C
n.2925T>C
1g.197429536T>GCA344040908CRB1c.2764T>G (p.Cys922Gly)
c.1645T>G (p.Cys549Gly)
c.907T>G (p.Cys303Gly)
c.2428T>G (p.Cys810Gly)
c.2692T>G (p.Cys898Gly)
c.2129-6064T>G (n.2129-6064T>G)
n.2765T>G
n.2973T>G
c.2182T>G (p.Cys728Gly)
c.1207T>G (p.Cys403Gly)
c.1921T>G (p.Cys641Gly)
c.2899T>G (p.Cys967Gly)
n.2717T>G
n.2925T>G
1g.197429537G>ACA344040914CRB1c.2765G>A (p.Cys922Tyr)
c.1646G>A (p.Cys549Tyr)
c.908G>A (p.Cys303Tyr)
c.2429G>A (p.Cys810Tyr)
c.2693G>A (p.Cys898Tyr)
c.2129-6063G>A (n.2129-6063G>A)
n.2766G>A
n.2974G>A
c.2183G>A (p.Cys728Tyr)
c.1208G>A (p.Cys403Tyr)
c.1922G>A (p.Cys641Tyr)
c.2900G>A (p.Cys967Tyr)
n.2718G>A
n.2926G>A
 gnomAD v4
1g.197429537G>CCA344040917CRB1c.2765G>C (p.Cys922Ser)
c.1646G>C (p.Cys549Ser)
c.908G>C (p.Cys303Ser)
c.2429G>C (p.Cys810Ser)
c.2693G>C (p.Cys898Ser)
c.2129-6063G>C (n.2129-6063G>C)
n.2766G>C
n.2974G>C
c.2183G>C (p.Cys728Ser)
c.1208G>C (p.Cys403Ser)
c.1922G>C (p.Cys641Ser)
c.2900G>C (p.Cys967Ser)
n.2718G>C
n.2926G>C
1g.197429537G>TCA344040919CRB1c.2765G>T (p.Cys922Phe)
c.1646G>T (p.Cys549Phe)
c.908G>T (p.Cys303Phe)
c.2429G>T (p.Cys810Phe)
c.2693G>T (p.Cys898Phe)
c.2129-6063G>T (n.2129-6063G>T)
n.2766G>T
n.2974G>T
c.2183G>T (p.Cys728Phe)
c.1208G>T (p.Cys403Phe)
c.1922G>T (p.Cys641Phe)
c.2900G>T (p.Cys967Phe)
n.2718G>T
n.2926G>T
1g.197429538T>ACA344040922CRB1c.2766T>A (p.Cys922Ter)
c.1647T>A (p.Cys549Ter)
c.909T>A (p.Cys303Ter)
c.2430T>A (p.Cys810Ter)
c.2694T>A (p.Cys898Ter)
c.2129-6062T>A (n.2129-6062T>A)
n.2767T>A
n.2975T>A
c.2184T>A (p.Cys728Ter)
c.1209T>A (p.Cys403Ter)
c.1923T>A (p.Cys641Ter)
c.2901T>A (p.Cys967Ter)
n.2719T>A
n.2927T>A
1g.197429538T>CCA422672314CRB1c.2766T>C (p.Cys922=)
c.1647T>C (p.Cys549=)
c.909T>C (p.Cys303=)
c.2430T>C (p.Cys810=)
c.2694T>C (p.Cys898=)
c.2129-6062T>C (n.2129-6062T>C)
n.2767T>C
n.2975T>C
c.2184T>C (p.Cys728=)
c.1209T>C (p.Cys403=)
c.1923T>C (p.Cys641=)
c.2901T>C (p.Cys967=)
n.2719T>C
n.2927T>C
1g.197429538T>GCA344040924CRB1c.2766T>G (p.Cys922Trp)
c.1647T>G (p.Cys549Trp)
c.909T>G (p.Cys303Trp)
c.2430T>G (p.Cys810Trp)
c.2694T>G (p.Cys898Trp)
c.2129-6062T>G (n.2129-6062T>G)
n.2767T>G
n.2975T>G
c.2184T>G (p.Cys728Trp)
c.1209T>G (p.Cys403Trp)
c.1923T>G (p.Cys641Trp)
c.2901T>G (p.Cys967Trp)
n.2719T>G
n.2927T>G
 gnomAD v4
1g.197429539G>ACA344040932CRB1c.2767G>A (p.Glu923Lys)
c.1648G>A (p.Glu550Lys)
c.910G>A (p.Glu304Lys)
c.2431G>A (p.Glu811Lys)
c.2695G>A (p.Glu899Lys)
c.2129-6061G>A (n.2129-6061G>A)
n.2768G>A
n.2976G>A
c.2185G>A (p.Glu729Lys)
c.1210G>A (p.Glu404Lys)
c.1924G>A (p.Glu642Lys)
c.2902G>A (p.Glu968Lys)
n.2720G>A
n.2928G>A
1g.197429539G>CCA344040934CRB1c.2767G>C (p.Glu923Gln)
c.1648G>C (p.Glu550Gln)
c.910G>C (p.Glu304Gln)
c.2431G>C (p.Glu811Gln)
c.2695G>C (p.Glu899Gln)
c.2129-6061G>C (n.2129-6061G>C)
n.2768G>C
n.2976G>C
c.2185G>C (p.Glu729Gln)
c.1210G>C (p.Glu404Gln)
c.1924G>C (p.Glu642Gln)
c.2902G>C (p.Glu968Gln)
n.2720G>C
n.2928G>C
1g.197429539G>TCA344040942CRB1c.2767G>T (p.Glu923Ter)
c.1648G>T (p.Glu550Ter)
c.910G>T (p.Glu304Ter)
c.2431G>T (p.Glu811Ter)
c.2695G>T (p.Glu899Ter)
c.2129-6061G>T (n.2129-6061G>T)
n.2768G>T
n.2976G>T
c.2185G>T (p.Glu729Ter)
c.1210G>T (p.Glu404Ter)
c.1924G>T (p.Glu642Ter)
c.2902G>T (p.Glu968Ter)
n.2720G>T
n.2928G>T
 ClinVar dbSNP
1g.197429540A>CCA344040950CRB1c.2768A>C (p.Glu923Ala)
c.1649A>C (p.Glu550Ala)
c.911A>C (p.Glu304Ala)
c.2432A>C (p.Glu811Ala)
c.2696A>C (p.Glu899Ala)
c.2129-6060A>C (n.2129-6060A>C)
n.2769A>C
n.2977A>C
c.2186A>C (p.Glu729Ala)
c.1211A>C (p.Glu404Ala)
c.1925A>C (p.Glu642Ala)
c.2903A>C (p.Glu968Ala)
n.2721A>C
n.2929A>C
1g.197429540A>GCA344040955CRB1c.2768A>G (p.Glu923Gly)
c.1649A>G (p.Glu550Gly)
c.911A>G (p.Glu304Gly)
c.2432A>G (p.Glu811Gly)
c.2696A>G (p.Glu899Gly)
c.2129-6060A>G (n.2129-6060A>G)
n.2769A>G
n.2977A>G
c.2186A>G (p.Glu729Gly)
c.1211A>G (p.Glu404Gly)
c.1925A>G (p.Glu642Gly)
c.2903A>G (p.Glu968Gly)
n.2721A>G
n.2929A>G
1g.197429540A>TCA344040946CRB1c.2768A>T (p.Glu923Val)
c.1649A>T (p.Glu550Val)
c.911A>T (p.Glu304Val)
c.2432A>T (p.Glu811Val)
c.2696A>T (p.Glu899Val)
c.2129-6060A>T (n.2129-6060A>T)
n.2769A>T
n.2977A>T
c.2186A>T (p.Glu729Val)
c.1211A>T (p.Glu404Val)
c.1925A>T (p.Glu642Val)
c.2903A>T (p.Glu968Val)
n.2721A>T
n.2929A>T
1g.197429541G>ACA35902526CRB1c.2769G>A (p.Glu923=)
c.1650G>A (p.Glu550=)
c.912G>A (p.Glu304=)
c.2433G>A (p.Glu811=)
c.2697G>A (p.Glu899=)
c.2129-6059G>A (n.2129-6059G>A)
n.2770G>A
n.2978G>A
c.2187G>A (p.Glu729=)
c.1212G>A (p.Glu404=)
c.1926G>A (p.Glu642=)
c.2904G>A (p.Glu968=)
n.2722G>A
n.2930G>A
 dbSNP
1g.197429541G>CCA344040961CRB1c.2769G>C (p.Glu923Asp)
c.1650G>C (p.Glu550Asp)
c.912G>C (p.Glu304Asp)
c.2433G>C (p.Glu811Asp)
c.2697G>C (p.Glu899Asp)
c.2129-6059G>C (n.2129-6059G>C)
n.2770G>C
n.2978G>C
c.2187G>C (p.Glu729Asp)
c.1212G>C (p.Glu404Asp)
c.1926G>C (p.Glu642Asp)
c.2904G>C (p.Glu968Asp)
n.2722G>C
n.2930G>C
1g.197429541G=CA1218065662CRB1c.2769G= (p.Glu923=)
c.1650G= (p.Glu550=)
c.912G= (p.Glu304=)
c.2433G= (p.Glu811=)
c.2697G= (p.Glu899=)
c.2129-6059G= (n.2129-6059G=)
n.2770G=
n.2978G=
c.2187G= (p.Glu729=)
c.1212G= (p.Glu404=)
c.1926G= (p.Glu642=)
c.2904G= (p.Glu968=)
n.2722G=
n.2930G=
1g.197429541G>TCA344040966CRB1c.2769G>T (p.Glu923Asp)
c.1650G>T (p.Glu550Asp)
c.912G>T (p.Glu304Asp)
c.2433G>T (p.Glu811Asp)
c.2697G>T (p.Glu899Asp)
c.2129-6059G>T (n.2129-6059G>T)
n.2770G>T
n.2978G>T
c.2187G>T (p.Glu729Asp)
c.1212G>T (p.Glu404Asp)
c.1926G>T (p.Glu642Asp)
c.2904G>T (p.Glu968Asp)
n.2722G>T
n.2930G>T
1g.197429542G>ACA344040974CRB1c.2770G>A (p.Glu924Lys)
c.1651G>A (p.Glu551Lys)
c.913G>A (p.Glu305Lys)
c.2434G>A (p.Glu812Lys)
c.2698G>A (p.Glu900Lys)
c.2129-6058G>A (n.2129-6058G>A)
n.2771G>A
n.2979G>A
c.2188G>A (p.Glu730Lys)
c.1213G>A (p.Glu405Lys)
c.1927G>A (p.Glu643Lys)
c.2905G>A (p.Glu969Lys)
n.2723G>A
n.2931G>A
1g.197429542G>CCA344040975CRB1c.2770G>C (p.Glu924Gln)
c.1651G>C (p.Glu551Gln)
c.913G>C (p.Glu305Gln)
c.2434G>C (p.Glu812Gln)
c.2698G>C (p.Glu900Gln)
c.2129-6058G>C (n.2129-6058G>C)
n.2771G>C
n.2979G>C
c.2188G>C (p.Glu730Gln)
c.1213G>C (p.Glu405Gln)
c.1927G>C (p.Glu643Gln)
c.2905G>C (p.Glu969Gln)
n.2723G>C
n.2931G>C
1g.197429542G>TCA344040976CRB1c.2770G>T (p.Glu924Ter)
c.1651G>T (p.Glu551Ter)
c.913G>T (p.Glu305Ter)
c.2434G>T (p.Glu812Ter)
c.2698G>T (p.Glu900Ter)
c.2129-6058G>T (n.2129-6058G>T)
n.2771G>T
n.2979G>T
c.2188G>T (p.Glu730Ter)
c.1213G>T (p.Glu405Ter)
c.1927G>T (p.Glu643Ter)
c.2905G>T (p.Glu969Ter)
n.2723G>T
n.2931G>T
 COSMIC
1g.197429543A>CCA344040977CRB1c.2771A>C (p.Glu924Ala)
c.1652A>C (p.Glu551Ala)
c.914A>C (p.Glu305Ala)
c.2435A>C (p.Glu812Ala)
c.2699A>C (p.Glu900Ala)
c.2129-6057A>C (n.2129-6057A>C)
n.2772A>C
n.2980A>C
c.2189A>C (p.Glu730Ala)
c.1214A>C (p.Glu405Ala)
c.1928A>C (p.Glu643Ala)
c.2906A>C (p.Glu969Ala)
n.2724A>C
n.2932A>C
1g.197429543A>GCA344040979CRB1c.2771A>G (p.Glu924Gly)
c.1652A>G (p.Glu551Gly)
c.914A>G (p.Glu305Gly)
c.2435A>G (p.Glu812Gly)
c.2699A>G (p.Glu900Gly)
c.2129-6057A>G (n.2129-6057A>G)
n.2772A>G
n.2980A>G
c.2189A>G (p.Glu730Gly)
c.1214A>G (p.Glu405Gly)
c.1928A>G (p.Glu643Gly)
c.2906A>G (p.Glu969Gly)
n.2724A>G
n.2932A>G
1g.197429543A>TCA344040982CRB1c.2771A>T (p.Glu924Val)
c.1652A>T (p.Glu551Val)
c.914A>T (p.Glu305Val)
c.2435A>T (p.Glu812Val)
c.2699A>T (p.Glu900Val)
c.2129-6057A>T (n.2129-6057A>T)
n.2772A>T
n.2980A>T
c.2189A>T (p.Glu730Val)
c.1214A>T (p.Glu405Val)
c.1928A>T (p.Glu643Val)
c.2906A>T (p.Glu969Val)
n.2724A>T
n.2932A>T
1g.197429544G>ACA422672320CRB1c.2772G>A (p.Glu924=)
c.1653G>A (p.Glu551=)
c.915G>A (p.Glu305=)
c.2436G>A (p.Glu812=)
c.2700G>A (p.Glu900=)
c.2129-6056G>A (n.2129-6056G>A)
n.2773G>A
n.2981G>A
c.2190G>A (p.Glu730=)
c.1215G>A (p.Glu405=)
c.1929G>A (p.Glu643=)
c.2907G>A (p.Glu969=)
n.2725G>A
n.2933G>A
 ClinVar dbSNP
1g.197429544G>CCA344040984CRB1c.2772G>C (p.Glu924Asp)
c.1653G>C (p.Glu551Asp)
c.915G>C (p.Glu305Asp)
c.2436G>C (p.Glu812Asp)
c.2700G>C (p.Glu900Asp)
c.2129-6056G>C (n.2129-6056G>C)
n.2773G>C
n.2981G>C
c.2190G>C (p.Glu730Asp)
c.1215G>C (p.Glu405Asp)
c.1929G>C (p.Glu643Asp)
c.2907G>C (p.Glu969Asp)
n.2725G>C
n.2933G>C
1g.197429544G=CA1218065667CRB1c.2772G= (p.Glu924=)
c.1653G= (p.Glu551=)
c.915G= (p.Glu305=)
c.2436G= (p.Glu812=)
c.2700G= (p.Glu900=)
c.2129-6056G= (n.2129-6056G=)
n.2773G=
n.2981G=
c.2190G= (p.Glu730=)
c.1215G= (p.Glu405=)
c.1929G= (p.Glu643=)
c.2907G= (p.Glu969=)
n.2725G=
n.2933G=
1g.197429544G>TCA344040987CRB1c.2772G>T (p.Glu924Asp)
c.1653G>T (p.Glu551Asp)
c.915G>T (p.Glu305Asp)
c.2436G>T (p.Glu812Asp)
c.2700G>T (p.Glu900Asp)
c.2129-6056G>T (n.2129-6056G>T)
n.2773G>T
n.2981G>T
c.2190G>T (p.Glu730Asp)
c.1215G>T (p.Glu405Asp)
c.1929G>T (p.Glu643Asp)
c.2907G>T (p.Glu969Asp)
n.2725G>T
n.2933G>T
 dbSNP gnomAD v3 gnomAD v4
1g.197429545G>ACA344040990CRB1c.2773G>A (p.Val925Ile)
c.1654G>A (p.Val552Ile)
c.916G>A (p.Val306Ile)
c.2437G>A (p.Val813Ile)
c.2701G>A (p.Val901Ile)
c.2129-6055G>A (n.2129-6055G>A)
n.2774G>A
n.2982G>A
c.2191G>A (p.Val731Ile)
c.1216G>A (p.Val406Ile)
c.1930G>A (p.Val644Ile)
c.2908G>A (p.Val970Ile)
n.2726G>A
n.2934G>A
 gnomAD v4
1g.197429545G>CCA344040997CRB1c.2773G>C (p.Val925Leu)
c.1654G>C (p.Val552Leu)
c.916G>C (p.Val306Leu)
c.2437G>C (p.Val813Leu)
c.2701G>C (p.Val901Leu)
c.2129-6055G>C (n.2129-6055G>C)
n.2774G>C
n.2982G>C
c.2191G>C (p.Val731Leu)
c.1216G>C (p.Val406Leu)
c.1930G>C (p.Val644Leu)
c.2908G>C (p.Val970Leu)
n.2726G>C
n.2934G>C
1g.197429545G>TCA344041000CRB1c.2773G>T (p.Val925Phe)
c.1654G>T (p.Val552Phe)
c.916G>T (p.Val306Phe)
c.2437G>T (p.Val813Phe)
c.2701G>T (p.Val901Phe)
c.2129-6055G>T (n.2129-6055G>T)
n.2774G>T
n.2982G>T
c.2191G>T (p.Val731Phe)
c.1216G>T (p.Val406Phe)
c.1930G>T (p.Val644Phe)
c.2908G>T (p.Val970Phe)
n.2726G>T
n.2934G>T
1g.197429546T>ACA344041009CRB1c.2774T>A (p.Val925Asp)
c.1655T>A (p.Val552Asp)
c.917T>A (p.Val306Asp)
c.2438T>A (p.Val813Asp)
c.2702T>A (p.Val901Asp)
c.2129-6054T>A (n.2129-6054T>A)
n.2775T>A
n.2983T>A
c.2192T>A (p.Val731Asp)
c.1217T>A (p.Val406Asp)
c.1931T>A (p.Val644Asp)
c.2909T>A (p.Val970Asp)
n.2727T>A
n.2935T>A
 dbSNP gnomAD v2 gnomAD v4
1g.197429546T>CCA344041007CRB1c.2774T>C (p.Val925Ala)
c.1655T>C (p.Val552Ala)
c.917T>C (p.Val306Ala)
c.2438T>C (p.Val813Ala)
c.2702T>C (p.Val901Ala)
c.2129-6054T>C (n.2129-6054T>C)
n.2775T>C
n.2983T>C
c.2192T>C (p.Val731Ala)
c.1217T>C (p.Val406Ala)
c.1931T>C (p.Val644Ala)
c.2909T>C (p.Val970Ala)
n.2727T>C
n.2935T>C
 dbSNP
1g.197429546T>GCA344041004CRB1c.2774T>G (p.Val925Gly)
c.1655T>G (p.Val552Gly)
c.917T>G (p.Val306Gly)
c.2438T>G (p.Val813Gly)
c.2702T>G (p.Val901Gly)
c.2129-6054T>G (n.2129-6054T>G)
n.2775T>G
n.2983T>G
c.2192T>G (p.Val731Gly)
c.1217T>G (p.Val406Gly)
c.1931T>G (p.Val644Gly)
c.2909T>G (p.Val970Gly)
n.2727T>G
n.2935T>G
1g.197429546T=CA1218065671CRB1c.2774T= (p.Val925=)
c.1655T= (p.Val552=)
c.917T= (p.Val306=)
c.2438T= (p.Val813=)
c.2702T= (p.Val901=)
c.2129-6054T= (n.2129-6054T=)
n.2775T=
n.2983T=
c.2192T= (p.Val731=)
c.1217T= (p.Val406=)
c.1931T= (p.Val644=)
c.2909T= (p.Val970=)
n.2727T=
n.2935T=
1g.197429547T>ACA422672324CRB1c.2775T>A (p.Val925=)
c.1656T>A (p.Val552=)
c.918T>A (p.Val306=)
c.2439T>A (p.Val813=)
c.2703T>A (p.Val901=)
c.2129-6053T>A (n.2129-6053T>A)
n.2776T>A
n.2984T>A
c.2193T>A (p.Val731=)
c.1218T>A (p.Val406=)
c.1932T>A (p.Val644=)
c.2910T>A (p.Val970=)
n.2728T>A
n.2936T>A
1g.197429547T>CCA422672326CRB1c.2775T>C (p.Val925=)
c.1656T>C (p.Val552=)
c.918T>C (p.Val306=)
c.2439T>C (p.Val813=)
c.2703T>C (p.Val901=)
c.2129-6053T>C (n.2129-6053T>C)
n.2776T>C
n.2984T>C
c.2193T>C (p.Val731=)
c.1218T>C (p.Val406=)
c.1932T>C (p.Val644=)
c.2910T>C (p.Val970=)
n.2728T>C
n.2936T>C
1g.197429547T>GCA422672328CRB1c.2775T>G (p.Val925=)
c.1656T>G (p.Val552=)
c.918T>G (p.Val306=)
c.2439T>G (p.Val813=)
c.2703T>G (p.Val901=)
c.2129-6053T>G (n.2129-6053T>G)
n.2776T>G
n.2984T>G
c.2193T>G (p.Val731=)
c.1218T>G (p.Val406=)
c.1932T>G (p.Val644=)
c.2910T>G (p.Val970=)
n.2728T>G
n.2936T>G
 ClinVar
1g.197429548C>ACA344041014CRB1c.2776C>A (p.Gln926Lys)
c.1657C>A (p.Gln553Lys)
c.919C>A (p.Gln307Lys)
c.2440C>A (p.Gln814Lys)
c.2704C>A (p.Gln902Lys)
c.2129-6052C>A (n.2129-6052C>A)
n.2777C>A
n.2985C>A
c.2194C>A (p.Gln732Lys)
c.1219C>A (p.Gln407Lys)
c.1933C>A (p.Gln645Lys)
c.2911C>A (p.Gln971Lys)
n.2729C>A
n.2937C>A
1g.197429548C=CA1218065674CRB1c.2776C= (p.Gln926=)
c.1657C= (p.Gln553=)
c.919C= (p.Gln307=)
c.2440C= (p.Gln814=)
c.2704C= (p.Gln902=)
c.2129-6052C= (n.2129-6052C=)
n.2777C=
n.2985C=
c.2194C= (p.Gln732=)
c.1219C= (p.Gln407=)
c.1933C= (p.Gln645=)
c.2911C= (p.Gln971=)
n.2729C=
n.2937C=
1g.197429548C>GCA344041016CRB1c.2776C>G (p.Gln926Glu)
c.1657C>G (p.Gln553Glu)
c.919C>G (p.Gln307Glu)
c.2440C>G (p.Gln814Glu)
c.2704C>G (p.Gln902Glu)
c.2129-6052C>G (n.2129-6052C>G)
n.2777C>G
n.2985C>G
c.2194C>G (p.Gln732Glu)
c.1219C>G (p.Gln407Glu)
c.1933C>G (p.Gln645Glu)
c.2911C>G (p.Gln971Glu)
n.2729C>G
n.2937C>G
1g.197429548C>TCA344041018CRB1c.2776C>T (p.Gln926Ter)
c.1657C>T (p.Gln553Ter)
c.919C>T (p.Gln307Ter)
c.2440C>T (p.Gln814Ter)
c.2704C>T (p.Gln902Ter)
c.2129-6052C>T (n.2129-6052C>T)
n.2777C>T
n.2985C>T
c.2194C>T (p.Gln732Ter)
c.1219C>T (p.Gln407Ter)
c.1933C>T (p.Gln645Ter)
c.2911C>T (p.Gln971Ter)
n.2729C>T
n.2937C>T
 dbSNP
1g.197429549A>CCA344041020CRB1c.2777A>C (p.Gln926Pro)
c.1658A>C (p.Gln553Pro)
c.920A>C (p.Gln307Pro)
c.2441A>C (p.Gln814Pro)
c.2705A>C (p.Gln902Pro)
c.2129-6051A>C (n.2129-6051A>C)
n.2778A>C
n.2986A>C
c.2195A>C (p.Gln732Pro)
c.1220A>C (p.Gln407Pro)
c.1934A>C (p.Gln645Pro)
c.2912A>C (p.Gln971Pro)
n.2730A>C
n.2938A>C
1g.197429549A>GCA344041022CRB1c.2777A>G (p.Gln926Arg)
c.1658A>G (p.Gln553Arg)
c.920A>G (p.Gln307Arg)
c.2441A>G (p.Gln814Arg)
c.2705A>G (p.Gln902Arg)
c.2129-6051A>G (n.2129-6051A>G)
n.2778A>G
n.2986A>G
c.2195A>G (p.Gln732Arg)
c.1220A>G (p.Gln407Arg)
c.1934A>G (p.Gln645Arg)
c.2912A>G (p.Gln971Arg)
n.2730A>G
n.2938A>G
 gnomAD v4
1g.197429549A>TCA344041025CRB1c.2777A>T (p.Gln926Leu)
c.1658A>T (p.Gln553Leu)
c.920A>T (p.Gln307Leu)
c.2441A>T (p.Gln814Leu)
c.2705A>T (p.Gln902Leu)
c.2129-6051A>T (n.2129-6051A>T)
n.2778A>T
n.2986A>T
c.2195A>T (p.Gln732Leu)
c.1220A>T (p.Gln407Leu)
c.1934A>T (p.Gln645Leu)
c.2912A>T (p.Gln971Leu)
n.2730A>T
n.2938A>T
 COSMIC
1g.197429550G>ACA1312202CRB1c.2778G>A (p.Gln926=)
c.1659G>A (p.Gln553=)
c.921G>A (p.Gln307=)
c.2442G>A (p.Gln814=)
c.2706G>A (p.Gln902=)
c.2129-6050G>A (n.2129-6050G>A)
n.2779G>A
n.2987G>A
c.2196G>A (p.Gln732=)
c.1221G>A (p.Gln407=)
c.1935G>A (p.Gln645=)
c.2913G>A (p.Gln971=)
n.2731G>A
n.2939G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197429550G>CCA344041031CRB1c.2778G>C (p.Gln926His)
c.1659G>C (p.Gln553His)
c.921G>C (p.Gln307His)
c.2442G>C (p.Gln814His)
c.2706G>C (p.Gln902His)
c.2129-6050G>C (n.2129-6050G>C)
n.2779G>C
n.2987G>C
c.2196G>C (p.Gln732His)
c.1221G>C (p.Gln407His)
c.1935G>C (p.Gln645His)
c.2913G>C (p.Gln971His)
n.2731G>C
n.2939G>C
1g.197429550G=CA1218065677CRB1c.2778G= (p.Gln926=)
c.1659G= (p.Gln553=)
c.921G= (p.Gln307=)
c.2442G= (p.Gln814=)
c.2706G= (p.Gln902=)
c.2129-6050G= (n.2129-6050G=)
n.2779G=
n.2987G=
c.2196G= (p.Gln732=)
c.1221G= (p.Gln407=)
c.1935G= (p.Gln645=)
c.2913G= (p.Gln971=)
n.2731G=
n.2939G=
1g.197429550G>TCA344041034CRB1c.2778G>T (p.Gln926His)
c.1659G>T (p.Gln553His)
c.921G>T (p.Gln307His)
c.2442G>T (p.Gln814His)
c.2706G>T (p.Gln902His)
c.2129-6050G>T (n.2129-6050G>T)
n.2779G>T
n.2987G>T
c.2196G>T (p.Gln732His)
c.1221G>T (p.Gln407His)
c.1935G>T (p.Gln645His)
c.2913G>T (p.Gln971His)
n.2731G>T
n.2939G>T
1g.197429551T>ACA344041047CRB1c.2779T>A (p.Trp927Arg)
c.1660T>A (p.Trp554Arg)
c.922T>A (p.Trp308Arg)
c.2443T>A (p.Trp815Arg)
c.2707T>A (p.Trp903Arg)
c.2129-6049T>A (n.2129-6049T>A)
n.2780T>A
n.2988T>A
c.2197T>A (p.Trp733Arg)
c.1222T>A (p.Trp408Arg)
c.1936T>A (p.Trp646Arg)
c.2914T>A (p.Trp972Arg)
n.2732T>A
n.2940T>A
1g.197429551T>CCA1312203CRB1c.2779T>C (p.Trp927Arg)
c.1660T>C (p.Trp554Arg)
c.922T>C (p.Trp308Arg)
c.2443T>C (p.Trp815Arg)
c.2707T>C (p.Trp903Arg)
c.2129-6049T>C (n.2129-6049T>C)
n.2780T>C
n.2988T>C
c.2197T>C (p.Trp733Arg)
c.1222T>C (p.Trp408Arg)
c.1936T>C (p.Trp646Arg)
c.2914T>C (p.Trp972Arg)
n.2732T>C
n.2940T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197429551T>GCA344041064CRB1c.2779T>G (p.Trp927Gly)
c.1660T>G (p.Trp554Gly)
c.922T>G (p.Trp308Gly)
c.2443T>G (p.Trp815Gly)
c.2707T>G (p.Trp903Gly)
c.2129-6049T>G (n.2129-6049T>G)
n.2780T>G
n.2988T>G
c.2197T>G (p.Trp733Gly)
c.1222T>G (p.Trp408Gly)
c.1936T>G (p.Trp646Gly)
c.2914T>G (p.Trp972Gly)
n.2732T>G
n.2940T>G
1g.197429551T=CA1218065681CRB1c.2779T= (p.Trp927=)
c.1660T= (p.Trp554=)
c.922T= (p.Trp308=)
c.2443T= (p.Trp815=)
c.2707T= (p.Trp903=)
c.2129-6049T= (n.2129-6049T=)
n.2780T=
n.2988T=
c.2197T= (p.Trp733=)
c.1222T= (p.Trp408=)
c.1936T= (p.Trp646=)
c.2914T= (p.Trp972=)
n.2732T=
n.2940T=
1g.197429552G>ACA344041069CRB1c.2780G>A (p.Trp927Ter)
c.1661G>A (p.Trp554Ter)
c.923G>A (p.Trp308Ter)
c.2444G>A (p.Trp815Ter)
c.2708G>A (p.Trp903Ter)
c.2129-6048G>A (n.2129-6048G>A)
n.2781G>A
n.2989G>A
c.2198G>A (p.Trp733Ter)
c.1223G>A (p.Trp408Ter)
c.1937G>A (p.Trp646Ter)
c.2915G>A (p.Trp972Ter)
n.2733G>A
n.2941G>A
1g.197429552G>CCA344041077CRB1c.2780G>C (p.Trp927Ser)
c.1661G>C (p.Trp554Ser)
c.923G>C (p.Trp308Ser)
c.2444G>C (p.Trp815Ser)
c.2708G>C (p.Trp903Ser)
c.2129-6048G>C (n.2129-6048G>C)
n.2781G>C
n.2989G>C
c.2198G>C (p.Trp733Ser)
c.1223G>C (p.Trp408Ser)
c.1937G>C (p.Trp646Ser)
c.2915G>C (p.Trp972Ser)
n.2733G>C
n.2941G>C
1g.197429552G>TCA344041080CRB1c.2780G>T (p.Trp927Leu)
c.1661G>T (p.Trp554Leu)
c.923G>T (p.Trp308Leu)
c.2444G>T (p.Trp815Leu)
c.2708G>T (p.Trp903Leu)
c.2129-6048G>T (n.2129-6048G>T)
n.2781G>T
n.2989G>T
c.2198G>T (p.Trp733Leu)
c.1223G>T (p.Trp408Leu)
c.1937G>T (p.Trp646Leu)
c.2915G>T (p.Trp972Leu)
n.2733G>T
n.2941G>T
1g.197429553G>ACA344041101CRB1c.2781G>A (p.Trp927Ter)
c.1662G>A (p.Trp554Ter)
c.924G>A (p.Trp308Ter)
c.2445G>A (p.Trp815Ter)
c.2709G>A (p.Trp903Ter)
c.2129-6047G>A (n.2129-6047G>A)
n.2782G>A
n.2990G>A
c.2199G>A (p.Trp733Ter)
c.1224G>A (p.Trp408Ter)
c.1938G>A (p.Trp646Ter)
c.2916G>A (p.Trp972Ter)
n.2734G>A
n.2942G>A
1g.197429553G>CCA344041103CRB1c.2781G>C (p.Trp927Cys)
c.1662G>C (p.Trp554Cys)
c.924G>C (p.Trp308Cys)
c.2445G>C (p.Trp815Cys)
c.2709G>C (p.Trp903Cys)
c.2129-6047G>C (n.2129-6047G>C)
n.2782G>C
n.2990G>C
c.2199G>C (p.Trp733Cys)
c.1224G>C (p.Trp408Cys)
c.1938G>C (p.Trp646Cys)
c.2916G>C (p.Trp972Cys)
n.2734G>C
n.2942G>C
1g.197429553G>TCA344041090CRB1c.2781G>T (p.Trp927Cys)
c.1662G>T (p.Trp554Cys)
c.924G>T (p.Trp308Cys)
c.2445G>T (p.Trp815Cys)
c.2709G>T (p.Trp903Cys)
c.2129-6047G>T (n.2129-6047G>T)
n.2782G>T
n.2990G>T
c.2199G>T (p.Trp733Cys)
c.1224G>T (p.Trp408Cys)
c.1938G>T (p.Trp646Cys)
c.2916G>T (p.Trp972Cys)
n.2734G>T
n.2942G>T
1g.197429554T>ACA344041106CRB1c.2782T>A (p.Cys928Ser)
c.1663T>A (p.Cys555Ser)
c.925T>A (p.Cys309Ser)
c.2446T>A (p.Cys816Ser)
c.2710T>A (p.Cys904Ser)
c.2129-6046T>A (n.2129-6046T>A)
n.2783T>A
n.2991T>A
c.2200T>A (p.Cys734Ser)
c.1225T>A (p.Cys409Ser)
c.1939T>A (p.Cys647Ser)
c.2917T>A (p.Cys973Ser)
n.2735T>A
n.2943T>A
1g.197429554T>CCA344041110CRB1c.2782T>C (p.Cys928Arg)
c.1663T>C (p.Cys555Arg)
c.925T>C (p.Cys309Arg)
c.2446T>C (p.Cys816Arg)
c.2710T>C (p.Cys904Arg)
c.2129-6046T>C (n.2129-6046T>C)
n.2783T>C
n.2991T>C
c.2200T>C (p.Cys734Arg)
c.1225T>C (p.Cys409Arg)
c.1939T>C (p.Cys647Arg)
c.2917T>C (p.Cys973Arg)
n.2735T>C
n.2943T>C
 gnomAD v4
1g.197429554T>GCA344041112CRB1c.2782T>G (p.Cys928Gly)
c.1663T>G (p.Cys555Gly)
c.925T>G (p.Cys309Gly)
c.2446T>G (p.Cys816Gly)
c.2710T>G (p.Cys904Gly)
c.2129-6046T>G (n.2129-6046T>G)
n.2783T>G
n.2991T>G
c.2200T>G (p.Cys734Gly)
c.1225T>G (p.Cys409Gly)
c.1939T>G (p.Cys647Gly)
c.2917T>G (p.Cys973Gly)
n.2735T>G
n.2943T>G
 gnomAD v4
1g.197429555G>ACA279259CRB1c.2783G>A (p.Cys928Tyr)
c.1664G>A (p.Cys555Tyr)
c.926G>A (p.Cys309Tyr)
c.2447G>A (p.Cys816Tyr)
c.2711G>A (p.Cys904Tyr)
c.2129-6045G>A (n.2129-6045G>A)
n.2784G>A
n.2992G>A
c.2201G>A (p.Cys734Tyr)
c.1226G>A (p.Cys409Tyr)
c.1940G>A (p.Cys647Tyr)
c.2918G>A (p.Cys973Tyr)
n.2736G>A
n.2944G>A
 ClinVar dbSNP gnomAD v4
1g.197429555G>CCA344041121CRB1c.2783G>C (p.Cys928Ser)
c.1664G>C (p.Cys555Ser)
c.926G>C (p.Cys309Ser)
c.2447G>C (p.Cys816Ser)
c.2711G>C (p.Cys904Ser)
c.2129-6045G>C (n.2129-6045G>C)
n.2784G>C
n.2992G>C
c.2201G>C (p.Cys734Ser)
c.1226G>C (p.Cys409Ser)
c.1940G>C (p.Cys647Ser)
c.2918G>C (p.Cys973Ser)
n.2736G>C
n.2944G>C
1g.197429555G=CA1218065689CRB1c.2783G= (p.Cys928=)
c.1664G= (p.Cys555=)
c.926G= (p.Cys309=)
c.2447G= (p.Cys816=)
c.2711G= (p.Cys904=)
c.2129-6045G= (n.2129-6045G=)
n.2784G=
n.2992G=
c.2201G= (p.Cys734=)
c.1226G= (p.Cys409=)
c.1940G= (p.Cys647=)
c.2918G= (p.Cys973=)
n.2736G=
n.2944G=
1g.197429555G>TCA344041122CRB1c.2783G>T (p.Cys928Phe)
c.1664G>T (p.Cys555Phe)
c.926G>T (p.Cys309Phe)
c.2447G>T (p.Cys816Phe)
c.2711G>T (p.Cys904Phe)
c.2129-6045G>T (n.2129-6045G>T)
n.2784G>T
n.2992G>T
c.2201G>T (p.Cys734Phe)
c.1226G>T (p.Cys409Phe)
c.1940G>T (p.Cys647Phe)
c.2918G>T (p.Cys973Phe)
n.2736G>T
n.2944G>T
1g.197429556T>ACA344041127CRB1c.2784T>A (p.Cys928Ter)
c.1665T>A (p.Cys555Ter)
c.927T>A (p.Cys309Ter)
c.2448T>A (p.Cys816Ter)
c.2712T>A (p.Cys904Ter)
c.2129-6044T>A (n.2129-6044T>A)
n.2785T>A
n.2993T>A
c.2202T>A (p.Cys734Ter)
c.1227T>A (p.Cys409Ter)
c.1941T>A (p.Cys647Ter)
c.2919T>A (p.Cys973Ter)
n.2737T>A
n.2945T>A
1g.197429556T>CCA422672333CRB1c.2784T>C (p.Cys928=)
c.1665T>C (p.Cys555=)
c.927T>C (p.Cys309=)
c.2448T>C (p.Cys816=)
c.2712T>C (p.Cys904=)
c.2129-6044T>C (n.2129-6044T>C)
n.2785T>C
n.2993T>C
c.2202T>C (p.Cys734=)
c.1227T>C (p.Cys409=)
c.1941T>C (p.Cys647=)
c.2919T>C (p.Cys973=)
n.2737T>C
n.2945T>C
1g.197429556T>GCA344041123CRB1c.2784T>G (p.Cys928Trp)
c.1665T>G (p.Cys555Trp)
c.927T>G (p.Cys309Trp)
c.2448T>G (p.Cys816Trp)
c.2712T>G (p.Cys904Trp)
c.2129-6044T>G (n.2129-6044T>G)
n.2785T>G
n.2993T>G
c.2202T>G (p.Cys734Trp)
c.1227T>G (p.Cys409Trp)
c.1941T>G (p.Cys647Trp)
c.2919T>G (p.Cys973Trp)
n.2737T>G
n.2945T>G
 ClinVar
1g.197429557G>ACA344041130CRB1c.2785G>A (p.Gly929Arg)
c.1666G>A (p.Gly556Arg)
c.928G>A (p.Gly310Arg)
c.2449G>A (p.Gly817Arg)
c.2713G>A (p.Gly905Arg)
c.2129-6043G>A (n.2129-6043G>A)
n.2786G>A
n.2994G>A
c.2203G>A (p.Gly735Arg)
c.1228G>A (p.Gly410Arg)
c.1942G>A (p.Gly648Arg)
c.2920G>A (p.Gly974Arg)
n.2738G>A
n.2946G>A
1g.197429557G>CCA344041134CRB1c.2785G>C (p.Gly929Arg)
c.1666G>C (p.Gly556Arg)
c.928G>C (p.Gly310Arg)
c.2449G>C (p.Gly817Arg)
c.2713G>C (p.Gly905Arg)
c.2129-6043G>C (n.2129-6043G>C)
n.2786G>C
n.2994G>C
c.2203G>C (p.Gly735Arg)
c.1228G>C (p.Gly410Arg)
c.1942G>C (p.Gly648Arg)
c.2920G>C (p.Gly974Arg)
n.2738G>C
n.2946G>C
1g.197429557G>TCA344041137CRB1c.2785G>T (p.Gly929Ter)
c.1666G>T (p.Gly556Ter)
c.928G>T (p.Gly310Ter)
c.2449G>T (p.Gly817Ter)
c.2713G>T (p.Gly905Ter)
c.2129-6043G>T (n.2129-6043G>T)
n.2786G>T
n.2994G>T
c.2203G>T (p.Gly735Ter)
c.1228G>T (p.Gly410Ter)
c.1942G>T (p.Gly648Ter)
c.2920G>T (p.Gly974Ter)
n.2738G>T
n.2946G>T
 gnomAD v4
1g.197429557_197429559delinsTGCA2695199949CRB1c.2785_2787delinsTG (p.Gly929CysfsTer?)
c.1666_1668delinsTG (p.Gly556CysfsTer?)
c.928_930delinsTG (p.Gly310CysfsTer?)
c.2449_2451delinsTG (p.Gly817CysfsTer?)
c.2713_2715delinsTG (p.Gly905CysfsTer?)
c.2129-6043_2129-6041delinsTG (n.2129-6043_2129-6041delinsTG)
n.2786_2788delinsTG
n.2994_2996delinsTG
c.2203_2205delinsTG (p.Gly735CysfsTer?)
c.1228_1230delinsTG (p.Gly410CysfsTer?)
c.1942_1944delinsTG (p.Gly648CysfsTer?)
c.2920_2922delinsTG (p.Gly974CysfsTer?)
n.2738_2740delinsTG
n.2946_2948delinsTG
 ClinVar
1g.197429558G>ACA344041141CRB1c.2786G>A (p.Gly929Glu)
c.1667G>A (p.Gly556Glu)
c.929G>A (p.Gly310Glu)
c.2450G>A (p.Gly817Glu)
c.2714G>A (p.Gly905Glu)
c.2129-6042G>A (n.2129-6042G>A)
n.2787G>A
n.2995G>A
c.2204G>A (p.Gly735Glu)
c.1229G>A (p.Gly410Glu)
c.1943G>A (p.Gly648Glu)
c.2921G>A (p.Gly974Glu)
n.2739G>A
n.2947G>A
 COSMIC
1g.197429558G>CCA344041143CRB1c.2786G>C (p.Gly929Ala)
c.1667G>C (p.Gly556Ala)
c.929G>C (p.Gly310Ala)
c.2450G>C (p.Gly817Ala)
c.2714G>C (p.Gly905Ala)
c.2129-6042G>C (n.2129-6042G>C)
n.2787G>C
n.2995G>C
c.2204G>C (p.Gly735Ala)
c.1229G>C (p.Gly410Ala)
c.1943G>C (p.Gly648Ala)
c.2921G>C (p.Gly974Ala)
n.2739G>C
n.2947G>C
1g.197429558G>TCA344041151CRB1c.2786G>T (p.Gly929Val)
c.1667G>T (p.Gly556Val)
c.929G>T (p.Gly310Val)
c.2450G>T (p.Gly817Val)
c.2714G>T (p.Gly905Val)
c.2129-6042G>T (n.2129-6042G>T)
n.2787G>T
n.2995G>T
c.2204G>T (p.Gly735Val)
c.1229G>T (p.Gly410Val)
c.1943G>T (p.Gly648Val)
c.2921G>T (p.Gly974Val)
n.2739G>T
n.2947G>T
1g.197429559delCA2649670481CRB1c.2787del (p.Phe930SerfsTer?)
c.1668del (p.Phe557SerfsTer?)
c.930del (p.Phe311SerfsTer?)
c.2451del (p.Phe818SerfsTer?)
c.2715del (p.Phe906SerfsTer?)
c.2129-6041del (n.2129-6041del)
n.2788del
n.2996del
c.2205del (p.Phe736SerfsTer?)
c.1230del (p.Phe411SerfsTer?)
c.1944del (p.Phe649SerfsTer?)
c.2922del (p.Phe975SerfsTer?)
n.2740del
n.2948del
 gnomAD v4
1g.197429559A>CCA422672338CRB1c.2787A>C (p.Gly929=)
c.1668A>C (p.Gly556=)
c.930A>C (p.Gly310=)
c.2451A>C (p.Gly817=)
c.2715A>C (p.Gly905=)
c.2129-6041A>C (n.2129-6041A>C)
n.2788A>C
n.2996A>C
c.2205A>C (p.Gly735=)
c.1230A>C (p.Gly410=)
c.1944A>C (p.Gly648=)
c.2922A>C (p.Gly974=)
n.2740A>C
n.2948A>C
1g.197429559A>GCA422672336CRB1c.2787A>G (p.Gly929=)
c.1668A>G (p.Gly556=)
c.930A>G (p.Gly310=)
c.2451A>G (p.Gly817=)
c.2715A>G (p.Gly905=)
c.2129-6041A>G (n.2129-6041A>G)
n.2788A>G
n.2996A>G
c.2205A>G (p.Gly735=)
c.1230A>G (p.Gly410=)
c.1944A>G (p.Gly648=)
c.2922A>G (p.Gly974=)
n.2740A>G
n.2948A>G
1g.197429559A>TCA422672337CRB1c.2787A>T (p.Gly929=)
c.1668A>T (p.Gly556=)
c.930A>T (p.Gly310=)
c.2451A>T (p.Gly817=)
c.2715A>T (p.Gly905=)
c.2129-6041A>T (n.2129-6041A>T)
n.2788A>T
n.2996A>T
c.2205A>T (p.Gly735=)
c.1230A>T (p.Gly410=)
c.1944A>T (p.Gly648=)
c.2922A>T (p.Gly974=)
n.2740A>T
n.2948A>T
1g.197429560T>ACA344041154CRB1c.2788T>A (p.Phe930Ile)
c.1669T>A (p.Phe557Ile)
c.931T>A (p.Phe311Ile)
c.2452T>A (p.Phe818Ile)
c.2716T>A (p.Phe906Ile)
c.2129-6040T>A (n.2129-6040T>A)
n.2789T>A
n.2997T>A
c.2206T>A (p.Phe736Ile)
c.1231T>A (p.Phe411Ile)
c.1945T>A (p.Phe649Ile)
c.2923T>A (p.Phe975Ile)
n.2741T>A
n.2949T>A
1g.197429560T>CCA344041160CRB1c.2788T>C (p.Phe930Leu)
c.1669T>C (p.Phe557Leu)
c.931T>C (p.Phe311Leu)
c.2452T>C (p.Phe818Leu)
c.2716T>C (p.Phe906Leu)
c.2129-6040T>C (n.2129-6040T>C)
n.2789T>C
n.2997T>C
c.2206T>C (p.Phe736Leu)
c.1231T>C (p.Phe411Leu)
c.1945T>C (p.Phe649Leu)
c.2923T>C (p.Phe975Leu)
n.2741T>C
n.2949T>C
1g.197429560T>GCA344041156CRB1c.2788T>G (p.Phe930Val)
c.1669T>G (p.Phe557Val)
c.931T>G (p.Phe311Val)
c.2452T>G (p.Phe818Val)
c.2716T>G (p.Phe906Val)
c.2129-6040T>G (n.2129-6040T>G)
n.2789T>G
n.2997T>G
c.2206T>G (p.Phe736Val)
c.1231T>G (p.Phe411Val)
c.1945T>G (p.Phe649Val)
c.2923T>G (p.Phe975Val)
n.2741T>G
n.2949T>G
1g.197429561T>ACA344041164CRB1c.2789T>A (p.Phe930Tyr)
c.1670T>A (p.Phe557Tyr)
c.932T>A (p.Phe311Tyr)
c.2453T>A (p.Phe818Tyr)
c.2717T>A (p.Phe906Tyr)
c.2129-6039T>A (n.2129-6039T>A)
n.2790T>A
n.2998T>A
c.2207T>A (p.Phe736Tyr)
c.1232T>A (p.Phe411Tyr)
c.1946T>A (p.Phe649Tyr)
c.2924T>A (p.Phe975Tyr)
n.2742T>A
n.2950T>A
1g.197429561T>CCA344041174CRB1c.2789T>C (p.Phe930Ser)
c.1670T>C (p.Phe557Ser)
c.932T>C (p.Phe311Ser)
c.2453T>C (p.Phe818Ser)
c.2717T>C (p.Phe906Ser)
c.2129-6039T>C (n.2129-6039T>C)
n.2790T>C
n.2998T>C
c.2207T>C (p.Phe736Ser)
c.1232T>C (p.Phe411Ser)
c.1946T>C (p.Phe649Ser)
c.2924T>C (p.Phe975Ser)
n.2742T>C
n.2950T>C
1g.197429561T>GCA344041176CRB1c.2789T>G (p.Phe930Cys)
c.1670T>G (p.Phe557Cys)
c.932T>G (p.Phe311Cys)
c.2453T>G (p.Phe818Cys)
c.2717T>G (p.Phe906Cys)
c.2129-6039T>G (n.2129-6039T>G)
n.2790T>G
n.2998T>G
c.2207T>G (p.Phe736Cys)
c.1232T>G (p.Phe411Cys)
c.1946T>G (p.Phe649Cys)
c.2924T>G (p.Phe975Cys)
n.2742T>G
n.2950T>G

Number of alleles fetched