Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.123376792_123376824delCA2691591981CRB2c.3634-46_3634-14del (n.3634-46_3634-14del)
c.2638-46_2638-14del (n.2638-46_2638-14del)
n.2748-46_2748-14del
c.3607-46_3607-14del (n.3607-46_3607-14del)
c.3439-46_3439-14del (n.3439-46_3439-14del)
 gnomAD v4
9g.123376820_123376825dupCA2691592016CRB2c.3634-18_3634-13dup (n.3634-18_3634-13dup)
c.2638-18_2638-13dup (n.2638-18_2638-13dup)
n.2748-18_2748-13dup
c.3607-18_3607-13dup (n.3607-18_3607-13dup)
c.3439-18_3439-13dup (n.3439-18_3439-13dup)
 gnomAD v4
9g.123376818C>ACA2579446750CRB2c.3634-20C>A (n.3634-20C>A)
c.2638-20C>A (n.2638-20C>A)
n.2748-20C>A
c.3607-20C>A (n.3607-20C>A)
c.3439-20C>A (n.3439-20C>A)
 gnomAD v4
9g.123376818C=CA1877946292CRB2c.3634-20C= (n.3634-20C=)
c.2638-20C= (n.2638-20C=)
n.2748-20C=
c.3607-20C= (n.3607-20C=)
c.3439-20C= (n.3439-20C=)
9g.123376818C>TCA590936437CRB2c.3634-20C>T (n.3634-20C>T)
c.2638-20C>T (n.2638-20C>T)
n.2748-20C>T
c.3607-20C>T (n.3607-20C>T)
c.3439-20C>T (n.3439-20C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123376819G>ACA199642999CRB2c.3634-19G>A (n.3634-19G>A)
c.2638-19G>A (n.2638-19G>A)
n.2748-19G>A
c.3607-19G>A (n.3607-19G>A)
c.3439-19G>A (n.3439-19G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123376819G>CCA2691592020CRB2c.3634-19G>C (n.3634-19G>C)
c.2638-19G>C (n.2638-19G>C)
n.2748-19G>C
c.3607-19G>C (n.3607-19G>C)
c.3439-19G>C (n.3439-19G>C)
 gnomAD v4
9g.123376819G=CA1877946296CRB2c.3634-19G= (n.3634-19G=)
c.2638-19G= (n.2638-19G=)
n.2748-19G=
c.3607-19G= (n.3607-19G=)
c.3439-19G= (n.3439-19G=)
9g.123376819G>TCA2691592019CRB2c.3634-19G>T (n.3634-19G>T)
c.2638-19G>T (n.2638-19G>T)
n.2748-19G>T
c.3607-19G>T (n.3607-19G>T)
c.3439-19G>T (n.3439-19G>T)
 gnomAD v4
9g.123376820G>ACA2691592022CRB2c.3634-18G>A (n.3634-18G>A)
c.2638-18G>A (n.2638-18G>A)
n.2748-18G>A
c.3607-18G>A (n.3607-18G>A)
c.3439-18G>A (n.3439-18G>A)
 gnomAD v4
9g.123376825_123376829delCA2691592021CRB2c.3634-13_3634-9del (n.3634-13_3634-9del)
c.2638-13_2638-9del (n.2638-13_2638-9del)
n.2748-13_2748-9del
c.3607-13_3607-9del (n.3607-13_3607-9del)
c.3439-13_3439-9del (n.3439-13_3439-9del)
 gnomAD v4
9g.123376821T>CCA2691592023CRB2c.3634-17T>C (n.3634-17T>C)
c.2638-17T>C (n.2638-17T>C)
n.2748-17T>C
c.3607-17T>C (n.3607-17T>C)
c.3439-17T>C (n.3439-17T>C)
 gnomAD v4
9g.123376821T>GCA590936438CRB2c.3634-17T>G (n.3634-17T>G)
c.2638-17T>G (n.2638-17T>G)
n.2748-17T>G
c.3607-17T>G (n.3607-17T>G)
c.3439-17T>G (n.3439-17T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123376821T=CA1877946298CRB2c.3634-17T= (n.3634-17T=)
c.2638-17T= (n.2638-17T=)
n.2748-17T=
c.3607-17T= (n.3607-17T=)
c.3439-17T= (n.3439-17T=)
9g.123376822G>ACA1877946302CRB2c.3634-16G>A (n.3634-16G>A)
c.2638-16G>A (n.2638-16G>A)
n.2748-16G>A
c.3607-16G>A (n.3607-16G>A)
c.3439-16G>A (n.3439-16G>A)
 dbSNP
9g.123376822G=CA1877946300CRB2c.3634-16G= (n.3634-16G=)
c.2638-16G= (n.2638-16G=)
n.2748-16G=
c.3607-16G= (n.3607-16G=)
c.3439-16G= (n.3439-16G=)
9g.123376823T>GCA2720612349CRB2c.3634-15T>G (n.3634-15T>G)
c.2638-15T>G (n.2638-15T>G)
n.2748-15T>G
c.3607-15T>G (n.3607-15T>G)
c.3439-15T>G (n.3439-15T>G)
 dbSNP
9g.123376824C>ACA2579446751CRB2c.3634-14C>A (n.3634-14C>A)
c.2638-14C>A (n.2638-14C>A)
n.2748-14C>A
c.3607-14C>A (n.3607-14C>A)
c.3439-14C>A (n.3439-14C>A)
 gnomAD v4
9g.123376824C=CA1877946303CRB2c.3634-14C= (n.3634-14C=)
c.2638-14C= (n.2638-14C=)
n.2748-14C=
c.3607-14C= (n.3607-14C=)
c.3439-14C= (n.3439-14C=)
9g.123376824C>TCA5232572CRB2c.3634-14C>T (n.3634-14C>T)
c.2638-14C>T (n.2638-14C>T)
n.2748-14C>T
c.3607-14C>T (n.3607-14C>T)
c.3439-14C>T (n.3439-14C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123376825G>ACA5232573CRB2c.3634-13G>A (n.3634-13G>A)
c.2638-13G>A (n.2638-13G>A)
n.2748-13G>A
c.3607-13G>A (n.3607-13G>A)
c.3439-13G>A (n.3439-13G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123376825G>CCA590936439CRB2c.3634-13G>C (n.3634-13G>C)
c.2638-13G>C (n.2638-13G>C)
n.2748-13G>C
c.3607-13G>C (n.3607-13G>C)
c.3439-13G>C (n.3439-13G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123376825G=CA1877946306CRB2c.3634-13G= (n.3634-13G=)
c.2638-13G= (n.2638-13G=)
n.2748-13G=
c.3607-13G= (n.3607-13G=)
c.3439-13G= (n.3439-13G=)
9g.123376825G>TCA2691592029CRB2c.3634-13G>T (n.3634-13G>T)
c.2638-13G>T (n.2638-13G>T)
n.2748-13G>T
c.3607-13G>T (n.3607-13G>T)
c.3439-13G>T (n.3439-13G>T)
 gnomAD v4
9g.123376826T>CCA2691592031CRB2c.3634-12T>C (n.3634-12T>C)
c.2638-12T>C (n.2638-12T>C)
n.2748-12T>C
c.3607-12T>C (n.3607-12T>C)
c.3439-12T>C (n.3439-12T>C)
 gnomAD v4
9g.123376826T>GCA590936440CRB2c.3634-12T>G (n.3634-12T>G)
c.2638-12T>G (n.2638-12T>G)
n.2748-12T>G
c.3607-12T>G (n.3607-12T>G)
c.3439-12T>G (n.3439-12T>G)
 dbSNP gnomAD v2 gnomAD v4
9g.123376826T=CA1877946309CRB2c.3634-12T= (n.3634-12T=)
c.2638-12T= (n.2638-12T=)
n.2748-12T=
c.3607-12T= (n.3607-12T=)
c.3439-12T= (n.3439-12T=)
9g.123376827G>ACA2691592033CRB2c.3634-11G>A (n.3634-11G>A)
c.2638-11G>A (n.2638-11G>A)
n.2748-11G>A
c.3607-11G>A (n.3607-11G>A)
c.3439-11G>A (n.3439-11G>A)
 gnomAD v4
9g.123376828dupCA2691592034CRB2c.3634-10dup (n.3634-10dup)
c.2638-10dup (n.2638-10dup)
n.2748-10dup
c.3607-10dup (n.3607-10dup)
c.3439-10dup (n.3439-10dup)
 gnomAD v4
9g.123376829C>ACA2691592035CRB2c.3634-9C>A (n.3634-9C>A)
c.2638-9C>A (n.2638-9C>A)
n.2748-9C>A
c.3607-9C>A (n.3607-9C>A)
c.3439-9C>A (n.3439-9C>A)
 gnomAD v4
9g.123376829C=CA1877946312CRB2c.3634-9C= (n.3634-9C=)
c.2638-9C= (n.2638-9C=)
n.2748-9C=
c.3607-9C= (n.3607-9C=)
c.3439-9C= (n.3439-9C=)
9g.123376829C>TCA1877946313CRB2c.3634-9C>T (n.3634-9C>T)
c.2638-9C>T (n.2638-9C>T)
n.2748-9C>T
c.3607-9C>T (n.3607-9C>T)
c.3439-9C>T (n.3439-9C>T)
 dbSNP
9g.123376831C=CA1877946316CRB2c.3634-7C= (n.3634-7C=)
c.2638-7C= (n.2638-7C=)
n.2748-7C=
c.3607-7C= (n.3607-7C=)
c.3439-7C= (n.3439-7C=)
9g.123376831C>TCA5232574CRB2c.3634-7C>T (n.3634-7C>T)
c.2638-7C>T (n.2638-7C>T)
n.2748-7C>T
c.3607-7C>T (n.3607-7C>T)
c.3439-7C>T (n.3439-7C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.123376833T>CCA590936441CRB2c.3634-5T>C (n.3634-5T>C)
c.2638-5T>C (n.2638-5T>C)
n.2748-5T>C
c.3607-5T>C (n.3607-5T>C)
c.3439-5T>C (n.3439-5T>C)
 dbSNP gnomAD v2 gnomAD v4
9g.123376833T>GCA2785875862CRB2c.3634-5T>G (n.3634-5T>G)
c.2638-5T>G (n.2638-5T>G)
n.2748-5T>G
c.3607-5T>G (n.3607-5T>G)
c.3439-5T>G (n.3439-5T>G)
9g.123376833T=CA1877946318CRB2c.3634-5T= (n.3634-5T=)
c.2638-5T= (n.2638-5T=)
n.2748-5T=
c.3607-5T= (n.3607-5T=)
c.3439-5T= (n.3439-5T=)
9g.123376834G>ACA2691592036CRB2c.3634-4G>A (n.3634-4G>A)
c.2638-4G>A (n.2638-4G>A)
n.2748-4G>A
c.3607-4G>A (n.3607-4G>A)
c.3439-4G>A (n.3439-4G>A)
 gnomAD v4
9g.123376835C>ACA2785875863CRB2c.3634-3C>A (n.3634-3C>A)
c.2638-3C>A (n.2638-3C>A)
n.2748-3C>A
c.3607-3C>A (n.3607-3C>A)
c.3439-3C>A (n.3439-3C>A)
9g.123376835C=CA1877946320CRB2c.3634-3C= (n.3634-3C=)
c.2638-3C= (n.2638-3C=)
n.2748-3C=
c.3607-3C= (n.3607-3C=)
c.3439-3C= (n.3439-3C=)
9g.123376835C>TCA5232575CRB2c.3634-3C>T (n.3634-3C>T)
c.2638-3C>T (n.2638-3C>T)
n.2748-3C>T
c.3607-3C>T (n.3607-3C>T)
c.3439-3C>T (n.3439-3C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.123376836A>CCA374869515CRB2c.3634-2A>C (n.3634-2A>C)
c.2638-2A>C (n.2638-2A>C)
n.2748-2A>C
c.3607-2A>C (n.3607-2A>C)
c.3439-2A>C (n.3439-2A>C)
9g.123376836A>GCA374869514CRB2c.3634-2A>G (n.3634-2A>G)
c.2638-2A>G (n.2638-2A>G)
n.2748-2A>G
c.3607-2A>G (n.3607-2A>G)
c.3439-2A>G (n.3439-2A>G)
9g.123376836A>TCA374869513CRB2c.3634-2A>T (n.3634-2A>T)
c.2638-2A>T (n.2638-2A>T)
n.2748-2A>T
c.3607-2A>T (n.3607-2A>T)
c.3439-2A>T (n.3439-2A>T)
9g.123376837G>ACA374869516CRB2c.3634-1G>A (n.3634-1G>A)
c.2638-1G>A (n.2638-1G>A)
n.2748-1G>A
c.3607-1G>A (n.3607-1G>A)
c.3439-1G>A (n.3439-1G>A)
9g.123376837G>CCA374869517CRB2c.3634-1G>C (n.3634-1G>C)
c.2638-1G>C (n.2638-1G>C)
n.2748-1G>C
c.3607-1G>C (n.3607-1G>C)
c.3439-1G>C (n.3439-1G>C)
9g.123376837G>TCA374869518CRB2c.3634-1G>T (n.3634-1G>T)
c.2638-1G>T (n.2638-1G>T)
n.2748-1G>T
c.3607-1G>T (n.3607-1G>T)
c.3439-1G>T (n.3439-1G>T)
9g.123376838A>CCA374869519CRB2c.3634A>C (p.Lys1212Gln)
c.2638A>C (p.Lys880Gln)
n.2748A>C
c.3607A>C (p.Lys1203Gln)
c.3439A>C (p.Lys1147Gln)
9g.123376838A>GCA374869520CRB2c.3634A>G (p.Lys1212Glu)
c.2638A>G (p.Lys880Glu)
n.2748A>G
c.3607A>G (p.Lys1203Glu)
c.3439A>G (p.Lys1147Glu)
9g.123376838A>TCA374869521CRB2c.3634A>T (p.Lys1212Ter)
c.2638A>T (p.Lys880Ter)
n.2748A>T
c.3607A>T (p.Lys1203Ter)
c.3439A>T (p.Lys1147Ter)
9g.123376839A>CCA374869522CRB2c.3635A>C (p.Lys1212Thr)
c.2639A>C (p.Lys880Thr)
n.2749A>C
c.3608A>C (p.Lys1203Thr)
c.3440A>C (p.Lys1147Thr)
9g.123376839A>GCA374869524CRB2c.3635A>G (p.Lys1212Arg)
c.2639A>G (p.Lys880Arg)
n.2749A>G
c.3608A>G (p.Lys1203Arg)
c.3440A>G (p.Lys1147Arg)
9g.123376839A>TCA374869523CRB2c.3635A>T (p.Lys1212Met)
c.2639A>T (p.Lys880Met)
n.2749A>T
c.3608A>T (p.Lys1203Met)
c.3440A>T (p.Lys1147Met)
9g.123376840G>ACA5232576CRB2c.3636G>A (p.Lys1212=)
c.2640G>A (p.Lys880=)
n.2750G>A
c.3609G>A (p.Lys1203=)
c.3441G>A (p.Lys1147=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123376840G>CCA374869525CRB2c.3636G>C (p.Lys1212Asn)
c.2640G>C (p.Lys880Asn)
n.2750G>C
c.3609G>C (p.Lys1203Asn)
c.3441G>C (p.Lys1147Asn)
9g.123376840G=CA1877946323CRB2c.3636G= (p.Lys1212=)
c.2640G= (p.Lys880=)
n.2750G=
c.3609G= (p.Lys1203=)
c.3441G= (p.Lys1147=)
9g.123376840G>TCA374869526CRB2c.3636G>T (p.Lys1212Asn)
c.2640G>T (p.Lys880Asn)
n.2750G>T
c.3609G>T (p.Lys1203Asn)
c.3441G>T (p.Lys1147Asn)
9g.123376841G>ACA374869527CRB2c.3637G>A (p.Gly1213Ser)
c.2641G>A (p.Gly881Ser)
n.2751G>A
c.3610G>A (p.Gly1204Ser)
c.3442G>A (p.Gly1148Ser)
9g.123376841G>CCA374869528CRB2c.3637G>C (p.Gly1213Arg)
c.2641G>C (p.Gly881Arg)
n.2751G>C
c.3610G>C (p.Gly1204Arg)
c.3442G>C (p.Gly1148Arg)
9g.123376841G>TCA374869529CRB2c.3637G>T (p.Gly1213Cys)
c.2641G>T (p.Gly881Cys)
n.2751G>T
c.3610G>T (p.Gly1204Cys)
c.3442G>T (p.Gly1148Cys)
9g.123376842G>ACA374869530CRB2c.3638G>A (p.Gly1213Asp)
c.2642G>A (p.Gly881Asp)
n.2752G>A
c.3611G>A (p.Gly1204Asp)
c.3443G>A (p.Gly1148Asp)
9g.123376842G>CCA374869531CRB2c.3638G>C (p.Gly1213Ala)
c.2642G>C (p.Gly881Ala)
n.2752G>C
c.3611G>C (p.Gly1204Ala)
c.3443G>C (p.Gly1148Ala)
9g.123376842G>TCA374869532CRB2c.3638G>T (p.Gly1213Val)
c.2642G>T (p.Gly881Val)
n.2752G>T
c.3611G>T (p.Gly1204Val)
c.3443G>T (p.Gly1148Val)
9g.123376843C>ACA467089721CRB2c.3639C>A (p.Gly1213=)
c.2643C>A (p.Gly881=)
n.2753C>A
c.3612C>A (p.Gly1204=)
c.3444C>A (p.Gly1148=)
 gnomAD v4
9g.123376843C=CA1877946325CRB2c.3639C= (p.Gly1213=)
c.2643C= (p.Gly881=)
n.2753C=
c.3612C= (p.Gly1204=)
c.3444C= (p.Gly1148=)
9g.123376843C>GCA467089723CRB2c.3639C>G (p.Gly1213=)
c.2643C>G (p.Gly881=)
n.2753C>G
c.3612C>G (p.Gly1204=)
c.3444C>G (p.Gly1148=)
9g.123376843C>TCA467089725CRB2c.3639C>T (p.Gly1213=)
c.2643C>T (p.Gly881=)
n.2753C>T
c.3612C>T (p.Gly1204=)
c.3444C>T (p.Gly1148=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123376844C>ACA374869533CRB2c.3640C>A (p.Leu1214Met)
c.2644C>A (p.Leu882Met)
n.2754C>A
c.3613C>A (p.Leu1205Met)
c.3445C>A (p.Leu1149Met)
9g.123376844C>GCA374869534CRB2c.3640C>G (p.Leu1214Val)
c.2644C>G (p.Leu882Val)
n.2754C>G
c.3613C>G (p.Leu1205Val)
c.3445C>G (p.Leu1149Val)
9g.123376844C>TCA467089729CRB2c.3640C>T (p.Leu1214=)
c.2644C>T (p.Leu882=)
n.2754C>T
c.3613C>T (p.Leu1205=)
c.3445C>T (p.Leu1149=)
 gnomAD v4
9g.123376845T>ACA374869535CRB2c.3641T>A (p.Leu1214Gln)
c.2645T>A (p.Leu882Gln)
n.2755T>A
c.3614T>A (p.Leu1205Gln)
c.3446T>A (p.Leu1149Gln)
9g.123376845T>CCA374869537CRB2c.3641T>C (p.Leu1214Pro)
c.2645T>C (p.Leu882Pro)
n.2755T>C
c.3614T>C (p.Leu1205Pro)
c.3446T>C (p.Leu1149Pro)
9g.123376845T>GCA374869536CRB2c.3641T>G (p.Leu1214Arg)
c.2645T>G (p.Leu882Arg)
n.2755T>G
c.3614T>G (p.Leu1205Arg)
c.3446T>G (p.Leu1149Arg)
9g.123376846G>ACA5232577CRB2c.3642G>A (p.Leu1214=)
c.2646G>A (p.Leu882=)
n.2756G>A
c.3615G>A (p.Leu1205=)
c.3447G>A (p.Leu1149=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123376846G>CCA467089741CRB2c.3642G>C (p.Leu1214=)
c.2646G>C (p.Leu882=)
n.2756G>C
c.3615G>C (p.Leu1205=)
c.3447G>C (p.Leu1149=)
 ClinVar gnomAD v4
9g.123376846G=CA1877946330CRB2c.3642G= (p.Leu1214=)
c.2646G= (p.Leu882=)
n.2756G=
c.3615G= (p.Leu1205=)
c.3447G= (p.Leu1149=)
9g.123376846G>TCA467089743CRB2c.3642G>T (p.Leu1214=)
c.2646G>T (p.Leu882=)
n.2756G>T
c.3615G>T (p.Leu1205=)
c.3447G>T (p.Leu1149=)
9g.123376847C>ACA374869539CRB2c.3643C>A (p.Pro1215Thr)
c.2647C>A (p.Pro883Thr)
n.2757C>A
c.3616C>A (p.Pro1206Thr)
c.3448C>A (p.Pro1150Thr)
 gnomAD v4
9g.123376847C=CA1877946334CRB2c.3643C= (p.Pro1215=)
c.2647C= (p.Pro883=)
n.2757C=
c.3616C= (p.Pro1206=)
c.3448C= (p.Pro1150=)
9g.123376847C>GCA374869538CRB2c.3643C>G (p.Pro1215Ala)
c.2647C>G (p.Pro883Ala)
n.2757C>G
c.3616C>G (p.Pro1206Ala)
c.3448C>G (p.Pro1150Ala)
9g.123376847C>TCA374869540CRB2c.3643C>T (p.Pro1215Ser)
c.2647C>T (p.Pro883Ser)
n.2757C>T
c.3616C>T (p.Pro1206Ser)
c.3448C>T (p.Pro1150Ser)
 dbSNP gnomAD v2 gnomAD v4
9g.123376848C>ACA374869541CRB2c.3644C>A (p.Pro1215His)
c.2648C>A (p.Pro883His)
n.2758C>A
c.3617C>A (p.Pro1206His)
c.3449C>A (p.Pro1150His)
9g.123376848C=CA1877946337CRB2c.3644C= (p.Pro1215=)
c.2648C= (p.Pro883=)
n.2758C=
c.3617C= (p.Pro1206=)
c.3449C= (p.Pro1150=)
9g.123376848C>GCA374869542CRB2c.3644C>G (p.Pro1215Arg)
c.2648C>G (p.Pro883Arg)
n.2758C>G
c.3617C>G (p.Pro1206Arg)
c.3449C>G (p.Pro1150Arg)
9g.123376848C>TCA5232578CRB2c.3644C>T (p.Pro1215Leu)
c.2648C>T (p.Pro883Leu)
n.2758C>T
c.3617C>T (p.Pro1206Leu)
c.3449C>T (p.Pro1150Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.123376849C>ACA467089759CRB2c.3645C>A (p.Pro1215=)
c.2649C>A (p.Pro883=)
n.2759C>A
c.3618C>A (p.Pro1206=)
c.3450C>A (p.Pro1150=)
9g.123376849C>GCA467089761CRB2c.3645C>G (p.Pro1215=)
c.2649C>G (p.Pro883=)
n.2759C>G
c.3618C>G (p.Pro1206=)
c.3450C>G (p.Pro1150=)
9g.123376849C>TCA467089763CRB2c.3645C>T (p.Pro1215=)
c.2649C>T (p.Pro883=)
n.2759C>T
c.3618C>T (p.Pro1206=)
c.3450C>T (p.Pro1150=)
9g.123376849_123376855delinsCCTGCCGCA1877946341CRB2c.3645_3651delinsCCTGCCG (p.Pro1215=)
c.2649_2655delinsCCTGCCG (p.Pro883=)
n.2759_2765delinsCCTGCCG
c.3618_3624delinsCCTGCCG (p.Pro1206=)
c.3450_3456delinsCCTGCCG (p.Pro1150=)
9g.123376850C>ACA374869543CRB2c.3646C>A (p.Leu1216Met)
c.2650C>A (p.Leu884Met)
n.2760C>A
c.3619C>A (p.Leu1207Met)
c.3451C>A (p.Leu1151Met)
9g.123376850C>GCA374869544CRB2c.3646C>G (p.Leu1216Val)
c.2650C>G (p.Leu884Val)
n.2760C>G
c.3619C>G (p.Leu1207Val)
c.3451C>G (p.Leu1151Val)
9g.123376850C>TCA467089769CRB2c.3646C>T (p.Leu1216=)
c.2650C>T (p.Leu884=)
n.2760C>T
c.3619C>T (p.Leu1207=)
c.3451C>T (p.Leu1151=)
9g.123376855_123376860dupCA1877946346CRB2c.3651_3656dup (p.Pro1219_Phe1220insLeuPro)
c.2655_2660dup (p.Pro887_Phe888insLeuPro)
n.2765_2770dup
c.3624_3629dup (p.Pro1210_Phe1211insLeuPro)
c.3456_3461dup (p.Pro1154_Phe1155insLeuPro)
 dbSNP
9g.123376855_123376860delCA1128947739CRB2c.3651_3656del (p.Leu1218_Pro1219del)
c.2655_2660del (p.Leu886_Pro887del)
n.2765_2770del
c.3624_3629del (p.Leu1209_Pro1210del)
c.3456_3461del (p.Leu1153_Pro1154del)
 dbSNP gnomAD v3 gnomAD v4
9g.123376851T>ACA374869545CRB2c.3647T>A (p.Leu1216Gln)
c.2651T>A (p.Leu884Gln)
n.2761T>A
c.3620T>A (p.Leu1207Gln)
c.3452T>A (p.Leu1151Gln)
9g.123376851T>CCA374869546CRB2c.3647T>C (p.Leu1216Pro)
c.2651T>C (p.Leu884Pro)
n.2761T>C
c.3620T>C (p.Leu1207Pro)
c.3452T>C (p.Leu1151Pro)
9g.123376851T>GCA5232579CRB2c.3647T>G (p.Leu1216Arg)
c.2651T>G (p.Leu884Arg)
n.2761T>G
c.3620T>G (p.Leu1207Arg)
c.3452T>G (p.Leu1151Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123376851T=CA1877946348CRB2c.3647T= (p.Leu1216=)
c.2651T= (p.Leu884=)
n.2761T=
c.3620T= (p.Leu1207=)
c.3452T= (p.Leu1151=)
9g.123376852G>ACA467089779CRB2c.3648G>A (p.Leu1216=)
c.2652G>A (p.Leu884=)
n.2762G>A
c.3621G>A (p.Leu1207=)
c.3453G>A (p.Leu1151=)
 gnomAD v4
9g.123376852G>CCA467089784CRB2c.3648G>C (p.Leu1216=)
c.2652G>C (p.Leu884=)
n.2762G>C
c.3621G>C (p.Leu1207=)
c.3453G>C (p.Leu1151=)
9g.123376852G>TCA467089780CRB2c.3648G>T (p.Leu1216=)
c.2652G>T (p.Leu884=)
n.2762G>T
c.3621G>T (p.Leu1207=)
c.3453G>T (p.Leu1151=)
9g.123376853C>ACA374869547CRB2c.3649C>A (p.Pro1217Thr)
c.2653C>A (p.Pro885Thr)
n.2763C>A
c.3622C>A (p.Pro1208Thr)
c.3454C>A (p.Pro1152Thr)
 gnomAD v4
9g.123376853C>GCA374869548CRB2c.3649C>G (p.Pro1217Ala)
c.2653C>G (p.Pro885Ala)
n.2763C>G
c.3622C>G (p.Pro1208Ala)
c.3454C>G (p.Pro1152Ala)
9g.123376853C>TCA374869549CRB2c.3649C>T (p.Pro1217Ser)
c.2653C>T (p.Pro885Ser)
n.2763C>T
c.3622C>T (p.Pro1208Ser)
c.3454C>T (p.Pro1152Ser)
9g.123376854C>ACA374869551CRB2c.3650C>A (p.Pro1217Gln)
c.2654C>A (p.Pro885Gln)
n.2764C>A
c.3623C>A (p.Pro1208Gln)
c.3455C>A (p.Pro1152Gln)
 gnomAD v4
9g.123376854C=CA1877946351CRB2c.3650C= (p.Pro1217=)
c.2654C= (p.Pro885=)
n.2764C=
c.3623C= (p.Pro1208=)
c.3455C= (p.Pro1152=)
9g.123376854C>GCA374869550CRB2c.3650C>G (p.Pro1217Arg)
c.2654C>G (p.Pro885Arg)
n.2764C>G
c.3623C>G (p.Pro1208Arg)
c.3455C>G (p.Pro1152Arg)
9g.123376854C>TCA5232580CRB2c.3650C>T (p.Pro1217Leu)
c.2654C>T (p.Pro885Leu)
n.2764C>T
c.3623C>T (p.Pro1208Leu)
c.3455C>T (p.Pro1152Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123376855G>ACA5232581CRB2c.3651G>A (p.Pro1217=)
c.2655G>A (p.Pro885=)
n.2765G>A
c.3624G>A (p.Pro1208=)
c.3456G>A (p.Pro1152=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123376855G>CCA467089806CRB2c.3651G>C (p.Pro1217=)
c.2655G>C (p.Pro885=)
n.2765G>C
c.3624G>C (p.Pro1208=)
c.3456G>C (p.Pro1152=)
9g.123376855G=CA1877946355CRB2c.3651G= (p.Pro1217=)
c.2655G= (p.Pro885=)
n.2765G=
c.3624G= (p.Pro1208=)
c.3456G= (p.Pro1152=)
9g.123376855G>TCA467089808CRB2c.3651G>T (p.Pro1217=)
c.2655G>T (p.Pro885=)
n.2765G>T
c.3624G>T (p.Pro1208=)
c.3456G>T (p.Pro1152=)
9g.123376856C>ACA374869552CRB2c.3652C>A (p.Leu1218Met)
c.2656C>A (p.Leu886Met)
n.2766C>A
c.3625C>A (p.Leu1209Met)
c.3457C>A (p.Leu1153Met)
9g.123376856C>GCA374869553CRB2c.3652C>G (p.Leu1218Val)
c.2656C>G (p.Leu886Val)
n.2766C>G
c.3625C>G (p.Leu1209Val)
c.3457C>G (p.Leu1153Val)
9g.123376856C>TCA467089814CRB2c.3652C>T (p.Leu1218=)
c.2656C>T (p.Leu886=)
n.2766C>T
c.3625C>T (p.Leu1209=)
c.3457C>T (p.Leu1153=)
9g.123376857T>ACA374869554CRB2c.3653T>A (p.Leu1218Gln)
c.2657T>A (p.Leu886Gln)
n.2767T>A
c.3626T>A (p.Leu1209Gln)
c.3458T>A (p.Leu1153Gln)
9g.123376857T>CCA374869555CRB2c.3653T>C (p.Leu1218Pro)
c.2657T>C (p.Leu886Pro)
n.2767T>C
c.3626T>C (p.Leu1209Pro)
c.3458T>C (p.Leu1153Pro)
9g.123376857T>GCA374869556CRB2c.3653T>G (p.Leu1218Arg)
c.2657T>G (p.Leu886Arg)
n.2767T>G
c.3626T>G (p.Leu1209Arg)
c.3458T>G (p.Leu1153Arg)
9g.123376858G>ACA467089824CRB2c.3654G>A (p.Leu1218=)
c.2658G>A (p.Leu886=)
n.2768G>A
c.3627G>A (p.Leu1209=)
c.3459G>A (p.Leu1153=)
 gnomAD v4
9g.123376858G>CCA467089826CRB2c.3654G>C (p.Leu1218=)
c.2658G>C (p.Leu886=)
n.2768G>C
c.3627G>C (p.Leu1209=)
c.3459G>C (p.Leu1153=)
9g.123376858G>TCA467089829CRB2c.3654G>T (p.Leu1218=)
c.2658G>T (p.Leu886=)
n.2768G>T
c.3627G>T (p.Leu1209=)
c.3459G>T (p.Leu1153=)
9g.123376859C>ACA374869557CRB2c.3655C>A (p.Pro1219Thr)
c.2659C>A (p.Pro887Thr)
n.2769C>A
c.3628C>A (p.Pro1210Thr)
c.3460C>A (p.Pro1154Thr)
9g.123376859C>GCA374869558CRB2c.3655C>G (p.Pro1219Ala)
c.2659C>G (p.Pro887Ala)
n.2769C>G
c.3628C>G (p.Pro1210Ala)
c.3460C>G (p.Pro1154Ala)
9g.123376859C>TCA374869559CRB2c.3655C>T (p.Pro1219Ser)
c.2659C>T (p.Pro887Ser)
n.2769C>T
c.3628C>T (p.Pro1210Ser)
c.3460C>T (p.Pro1154Ser)
9g.123376860C>ACA374869560CRB2c.3656C>A (p.Pro1219Gln)
c.2660C>A (p.Pro887Gln)
n.2770C>A
c.3629C>A (p.Pro1210Gln)
c.3461C>A (p.Pro1154Gln)
9g.123376860C>GCA374869561CRB2c.3656C>G (p.Pro1219Arg)
c.2660C>G (p.Pro887Arg)
n.2770C>G
c.3629C>G (p.Pro1210Arg)
c.3461C>G (p.Pro1154Arg)
9g.123376860C>TCA374869562CRB2c.3656C>T (p.Pro1219Leu)
c.2660C>T (p.Pro887Leu)
n.2770C>T
c.3629C>T (p.Pro1210Leu)
c.3461C>T (p.Pro1154Leu)
9g.123376861A=CA1877946359CRB2c.3657A= (p.Pro1219=)
c.2661A= (p.Pro887=)
n.2771A=
c.3630A= (p.Pro1210=)
c.3462A= (p.Pro1154=)
9g.123376861A>CCA467089842CRB2c.3657A>C (p.Pro1219=)
c.2661A>C (p.Pro887=)
n.2771A>C
c.3630A>C (p.Pro1210=)
c.3462A>C (p.Pro1154=)
9g.123376861A>GCA199643020CRB2c.3657A>G (p.Pro1219=)
c.2661A>G (p.Pro887=)
n.2771A>G
c.3630A>G (p.Pro1210=)
c.3462A>G (p.Pro1154=)
 dbSNP gnomAD v2 gnomAD v4
9g.123376861A>TCA467089846CRB2c.3657A>T (p.Pro1219=)
c.2661A>T (p.Pro887=)
n.2771A>T
c.3630A>T (p.Pro1210=)
c.3462A>T (p.Pro1154=)
9g.123376862T>ACA374869565CRB2c.3658T>A (p.Phe1220Ile)
c.2662T>A (p.Phe888Ile)
n.2772T>A
c.3631T>A (p.Phe1211Ile)
c.3463T>A (p.Phe1155Ile)
9g.123376862T>CCA374869564CRB2c.3658T>C (p.Phe1220Leu)
c.2662T>C (p.Phe888Leu)
n.2772T>C
c.3631T>C (p.Phe1211Leu)
c.3463T>C (p.Phe1155Leu)
9g.123376862T>GCA374869563CRB2c.3658T>G (p.Phe1220Val)
c.2662T>G (p.Phe888Val)
n.2772T>G
c.3631T>G (p.Phe1211Val)
c.3463T>G (p.Phe1155Val)
 gnomAD v4
9g.123376863T>ACA374869566CRB2c.3659T>A (p.Phe1220Tyr)
c.2663T>A (p.Phe888Tyr)
n.2773T>A
c.3632T>A (p.Phe1211Tyr)
c.3464T>A (p.Phe1155Tyr)
9g.123376863T>CCA374869567CRB2c.3659T>C (p.Phe1220Ser)
c.2663T>C (p.Phe888Ser)
n.2773T>C
c.3632T>C (p.Phe1211Ser)
c.3464T>C (p.Phe1155Ser)
9g.123376863T>GCA374869568CRB2c.3659T>G (p.Phe1220Cys)
c.2663T>G (p.Phe888Cys)
n.2773T>G
c.3632T>G (p.Phe1211Cys)
c.3464T>G (p.Phe1155Cys)
9g.123376864C>ACA374869569CRB2c.3660C>A (p.Phe1220Leu)
c.2664C>A (p.Phe888Leu)
n.2774C>A
c.3633C>A (p.Phe1211Leu)
c.3465C>A (p.Phe1155Leu)
9g.123376864C=CA1877946362CRB2c.3660C= (p.Phe1220=)
c.2664C= (p.Phe888=)
n.2774C=
c.3633C= (p.Phe1211=)
c.3465C= (p.Phe1155=)
9g.123376864C>GCA374869570CRB2c.3660C>G (p.Phe1220Leu)
c.2664C>G (p.Phe888Leu)
n.2774C>G
c.3633C>G (p.Phe1211Leu)
c.3465C>G (p.Phe1155Leu)
 dbSNP gnomAD v2
9g.123376864C>TCA467089859CRB2c.3660C>T (p.Phe1220=)
c.2664C>T (p.Phe888=)
n.2774C>T
c.3633C>T (p.Phe1211=)
c.3465C>T (p.Phe1155=)
9g.123376865C>ACA374869571CRB2c.3661C>A (p.Pro1221Thr)
c.2665C>A (p.Pro889Thr)
n.2775C>A
c.3634C>A (p.Pro1212Thr)
c.3466C>A (p.Pro1156Thr)
 gnomAD v4
9g.123376865C>GCA374869572CRB2c.3661C>G (p.Pro1221Ala)
c.2665C>G (p.Pro889Ala)
n.2775C>G
c.3634C>G (p.Pro1212Ala)
c.3466C>G (p.Pro1156Ala)
9g.123376865C>TCA374869573CRB2c.3661C>T (p.Pro1221Ser)
c.2665C>T (p.Pro889Ser)
n.2775C>T
c.3634C>T (p.Pro1212Ser)
c.3466C>T (p.Pro1156Ser)
9g.123376866C>ACA374869574CRB2c.3662C>A (p.Pro1221Gln)
c.2666C>A (p.Pro889Gln)
n.2776C>A
c.3635C>A (p.Pro1212Gln)
c.3467C>A (p.Pro1156Gln)
 gnomAD v4
9g.123376866C=CA1877946369CRB2c.3662C= (p.Pro1221=)
c.2666C= (p.Pro889=)
n.2776C=
c.3635C= (p.Pro1212=)
c.3467C= (p.Pro1156=)
9g.123376866C>GCA374869575CRB2c.3662C>G (p.Pro1221Arg)
c.2666C>G (p.Pro889Arg)
n.2776C>G
c.3635C>G (p.Pro1212Arg)
c.3467C>G (p.Pro1156Arg)
 gnomAD v4
9g.123376866C>TCA5232582CRB2c.3662C>T (p.Pro1221Leu)
c.2666C>T (p.Pro889Leu)
n.2776C>T
c.3635C>T (p.Pro1212Leu)
c.3467C>T (p.Pro1156Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.123376867A>CCA467089872CRB2c.3663A>C (p.Pro1221=)
c.2667A>C (p.Pro889=)
n.2777A>C
c.3636A>C (p.Pro1212=)
c.3468A>C (p.Pro1156=)
 gnomAD v4
9g.123376867A>GCA467089874CRB2c.3663A>G (p.Pro1221=)
c.2667A>G (p.Pro889=)
n.2777A>G
c.3636A>G (p.Pro1212=)
c.3468A>G (p.Pro1156=)
9g.123376867A>TCA467089876CRB2c.3663A>T (p.Pro1221=)
c.2667A>T (p.Pro889=)
n.2777A>T
c.3636A>T (p.Pro1212=)
c.3468A>T (p.Pro1156=)
9g.123376868C>ACA374869576CRB2c.3664C>A (p.Leu1222Met)
c.2668C>A (p.Leu890Met)
n.2778C>A
c.3637C>A (p.Leu1213Met)
c.3469C>A (p.Leu1157Met)
 gnomAD v4
9g.123376868C=CA1877946372CRB2c.3664C= (p.Leu1222=)
c.2668C= (p.Leu890=)
n.2778C=
c.3637C= (p.Leu1213=)
c.3469C= (p.Leu1157=)
9g.123376868C>GCA374869577CRB2c.3664C>G (p.Leu1222Val)
c.2668C>G (p.Leu890Val)
n.2778C>G
c.3637C>G (p.Leu1213Val)
c.3469C>G (p.Leu1157Val)
 dbSNP gnomAD v3 gnomAD v4
9g.123376868C>TCA467089881CRB2c.3664C>T (p.Leu1222=)
c.2668C>T (p.Leu890=)
n.2778C>T
c.3637C>T (p.Leu1213=)
c.3469C>T (p.Leu1157=)
9g.123376869T>ACA374869578CRB2c.3665T>A (p.Leu1222Gln)
c.2669T>A (p.Leu890Gln)
n.2779T>A
c.3638T>A (p.Leu1213Gln)
c.3470T>A (p.Leu1157Gln)
9g.123376869T>CCA5232583CRB2c.3665T>C (p.Leu1222Pro)
c.2669T>C (p.Leu890Pro)
n.2779T>C
c.3638T>C (p.Leu1213Pro)
c.3470T>C (p.Leu1157Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123376869T>GCA374869579CRB2c.3665T>G (p.Leu1222Arg)
c.2669T>G (p.Leu890Arg)
n.2779T>G
c.3638T>G (p.Leu1213Arg)
c.3470T>G (p.Leu1157Arg)
9g.123376869T=CA1877946375CRB2c.3665T= (p.Leu1222=)
c.2669T= (p.Leu890=)
n.2779T=
c.3638T= (p.Leu1213=)
c.3470T= (p.Leu1157=)
9g.123376870G>ACA467089893CRB2c.3666G>A (p.Leu1222=)
c.2670G>A (p.Leu890=)
n.2780G>A
c.3639G>A (p.Leu1213=)
c.3471G>A (p.Leu1157=)
 gnomAD v4
9g.123376870G>CCA467089895CRB2c.3666G>C (p.Leu1222=)
c.2670G>C (p.Leu890=)
n.2780G>C
c.3639G>C (p.Leu1213=)
c.3471G>C (p.Leu1157=)
9g.123376870G>TCA467089898CRB2c.3666G>T (p.Leu1222=)
c.2670G>T (p.Leu890=)
n.2780G>T
c.3639G>T (p.Leu1213=)
c.3471G>T (p.Leu1157=)
 gnomAD v4
9g.123376871C>ACA374869580CRB2c.3667C>A (p.Leu1223Met)
c.2671C>A (p.Leu891Met)
n.2781C>A
c.3640C>A (p.Leu1214Met)
c.3472C>A (p.Leu1158Met)
 gnomAD v4
9g.123376871C>GCA374869581CRB2c.3667C>G (p.Leu1223Val)
c.2671C>G (p.Leu891Val)
n.2781C>G
c.3640C>G (p.Leu1214Val)
c.3472C>G (p.Leu1158Val)
9g.123376871C>TCA467089905CRB2c.3667C>T (p.Leu1223=)
c.2671C>T (p.Leu891=)
n.2781C>T
c.3640C>T (p.Leu1214=)
c.3472C>T (p.Leu1158=)
 gnomAD v4
9g.123376872T>ACA374869582CRB2c.3668T>A (p.Leu1223Gln)
c.2672T>A (p.Leu891Gln)
n.2782T>A
c.3641T>A (p.Leu1214Gln)
c.3473T>A (p.Leu1158Gln)
9g.123376872T>CCA374869583CRB2c.3668T>C (p.Leu1223Pro)
c.2672T>C (p.Leu891Pro)
n.2782T>C
c.3641T>C (p.Leu1214Pro)
c.3473T>C (p.Leu1158Pro)
9g.123376872T>GCA374869584CRB2c.3668T>G (p.Leu1223Arg)
c.2672T>G (p.Leu891Arg)
n.2782T>G
c.3641T>G (p.Leu1214Arg)
c.3473T>G (p.Leu1158Arg)
9g.123376873G>ACA467089920CRB2c.3669G>A (p.Leu1223=)
c.2673G>A (p.Leu891=)
n.2783G>A
c.3642G>A (p.Leu1214=)
c.3474G>A (p.Leu1158=)
9g.123376873G>CCA467089918CRB2c.3669G>C (p.Leu1223=)
c.2673G>C (p.Leu891=)
n.2783G>C
c.3642G>C (p.Leu1214=)
c.3474G>C (p.Leu1158=)
9g.123376873G>TCA467089915CRB2c.3669G>T (p.Leu1223=)
c.2673G>T (p.Leu891=)
n.2783G>T
c.3642G>T (p.Leu1214=)
c.3474G>T (p.Leu1158=)
9g.123376874G>ACA374869585CRB2c.3670G>A (p.Glu1224Lys)
c.2674G>A (p.Glu892Lys)
n.2784G>A
c.3643G>A (p.Glu1215Lys)
c.3475G>A (p.Glu1159Lys)
9g.123376874G>CCA374869586CRB2c.3670G>C (p.Glu1224Gln)
c.2674G>C (p.Glu892Gln)
n.2784G>C
c.3643G>C (p.Glu1215Gln)
c.3475G>C (p.Glu1159Gln)
 gnomAD v4
9g.123376874G=CA1877946379CRB2c.3670G= (p.Glu1224=)
c.2674G= (p.Glu892=)
n.2784G=
c.3643G= (p.Glu1215=)
c.3475G= (p.Glu1159=)
9g.123376874G>TCA374869587CRB2c.3670G>T (p.Glu1224Ter)
c.2674G>T (p.Glu892Ter)
n.2784G>T
c.3643G>T (p.Glu1215Ter)
c.3475G>T (p.Glu1159Ter)
 dbSNP gnomAD v2
9g.123376875A=CA1877946382CRB2c.3671A= (p.Glu1224=)
c.2675A= (p.Glu892=)
n.2785A=
c.3644A= (p.Glu1215=)
c.3476A= (p.Glu1159=)
9g.123376875A>CCA374869588CRB2c.3671A>C (p.Glu1224Ala)
c.2675A>C (p.Glu892Ala)
n.2785A>C
c.3644A>C (p.Glu1215Ala)
c.3476A>C (p.Glu1159Ala)
 dbSNP gnomAD v3 gnomAD v4
9g.123376875A>GCA374869589CRB2c.3671A>G (p.Glu1224Gly)
c.2675A>G (p.Glu892Gly)
n.2785A>G
c.3644A>G (p.Glu1215Gly)
c.3476A>G (p.Glu1159Gly)
 dbSNP
9g.123376875A>TCA374869590CRB2c.3671A>T (p.Glu1224Val)
c.2675A>T (p.Glu892Val)
n.2785A>T
c.3644A>T (p.Glu1215Val)
c.3476A>T (p.Glu1159Val)
9g.123376876G>ACA467089939CRB2c.3672G>A (p.Glu1224=)
c.2676G>A (p.Glu892=)
n.2786G>A
c.3645G>A (p.Glu1215=)
c.3477G>A (p.Glu1159=)
 dbSNP
9g.123376876G>CCA374869592CRB2c.3672G>C (p.Glu1224Asp)
c.2676G>C (p.Glu892Asp)
n.2786G>C
c.3645G>C (p.Glu1215Asp)
c.3477G>C (p.Glu1159Asp)
 dbSNP gnomAD v3 gnomAD v4
9g.123376876G=CA1877946385CRB2c.3672G= (p.Glu1224=)
c.2676G= (p.Glu892=)
n.2786G=
c.3645G= (p.Glu1215=)
c.3477G= (p.Glu1159=)
9g.123376876G>TCA374869591CRB2c.3672G>T (p.Glu1224Asp)
c.2676G>T (p.Glu892Asp)
n.2786G>T
c.3645G>T (p.Glu1215Asp)
c.3477G>T (p.Glu1159Asp)
9g.123376877G>ACA374869593CRB2c.3673G>A (p.Val1225Met)
c.2677G>A (p.Val893Met)
n.2787G>A
c.3646G>A (p.Val1216Met)
c.3478G>A (p.Val1160Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123376877G>CCA374869595CRB2c.3673G>C (p.Val1225Leu)
c.2677G>C (p.Val893Leu)
n.2787G>C
c.3646G>C (p.Val1216Leu)
c.3478G>C (p.Val1160Leu)
9g.123376877G=CA1877946389CRB2c.3673G= (p.Val1225=)
c.2677G= (p.Val893=)
n.2787G=
c.3646G= (p.Val1216=)
c.3478G= (p.Val1160=)
9g.123376877G>TCA374869594CRB2c.3673G>T (p.Val1225Leu)
c.2677G>T (p.Val893Leu)
n.2787G>T
c.3646G>T (p.Val1216Leu)
c.3478G>T (p.Val1160Leu)
9g.123376878T>ACA374869596CRB2c.3674T>A (p.Val1225Glu)
c.2678T>A (p.Val893Glu)
n.2788T>A
c.3647T>A (p.Val1216Glu)
c.3479T>A (p.Val1160Glu)
9g.123376878T>CCA374869597CRB2c.3674T>C (p.Val1225Ala)
c.2678T>C (p.Val893Ala)
n.2788T>C
c.3647T>C (p.Val1216Ala)
c.3479T>C (p.Val1160Ala)
9g.123376878T>GCA374869598CRB2c.3674T>G (p.Val1225Gly)
c.2678T>G (p.Val893Gly)
n.2788T>G
c.3647T>G (p.Val1216Gly)
c.3479T>G (p.Val1160Gly)
 dbSNP
9g.123376878T=CA1877946393CRB2c.3674T= (p.Val1225=)
c.2678T= (p.Val893=)
n.2788T=
c.3647T= (p.Val1216=)
c.3479T= (p.Val1160=)
9g.123376879G>ACA467089971CRB2c.3675G>A (p.Val1225=)
c.2679G>A (p.Val893=)
n.2789G>A
c.3648G>A (p.Val1216=)
c.3480G>A (p.Val1160=)
 gnomAD v4
9g.123376879G>CCA467089976CRB2c.3675G>C (p.Val1225=)
c.2679G>C (p.Val893=)
n.2789G>C
c.3648G>C (p.Val1216=)
c.3480G>C (p.Val1160=)
9g.123376879G>TCA467089973CRB2c.3675G>T (p.Val1225=)
c.2679G>T (p.Val893=)
n.2789G>T
c.3648G>T (p.Val1216=)
c.3480G>T (p.Val1160=)
 gnomAD v4
9g.123376880G>ACA374869599CRB2c.3676G>A (p.Ala1226Thr)
c.2680G>A (p.Ala894Thr)
n.2790G>A
c.3649G>A (p.Ala1217Thr)
c.3481G>A (p.Ala1161Thr)
 gnomAD v4
9g.123376880G>CCA374869600CRB2c.3676G>C (p.Ala1226Pro)
c.2680G>C (p.Ala894Pro)
n.2790G>C
c.3649G>C (p.Ala1217Pro)
c.3481G>C (p.Ala1161Pro)
9g.123376880G>TCA374869601CRB2c.3676G>T (p.Ala1226Ser)
c.2680G>T (p.Ala894Ser)
n.2790G>T
c.3649G>T (p.Ala1217Ser)
c.3481G>T (p.Ala1161Ser)
9g.123376881C>ACA374869602CRB2c.3677C>A (p.Ala1226Asp)
c.2681C>A (p.Ala894Asp)
n.2791C>A
c.3650C>A (p.Ala1217Asp)
c.3482C>A (p.Ala1161Asp)
 gnomAD v4
9g.123376881C=CA1877946396CRB2c.3677C= (p.Ala1226=)
c.2681C= (p.Ala894=)
n.2791C=
c.3650C= (p.Ala1217=)
c.3482C= (p.Ala1161=)
9g.123376881C>GCA374869603CRB2c.3677C>G (p.Ala1226Gly)
c.2681C>G (p.Ala894Gly)
n.2791C>G
c.3650C>G (p.Ala1217Gly)
c.3482C>G (p.Ala1161Gly)
 dbSNP gnomAD v2
9g.123376881C>TCA374869604CRB2c.3677C>T (p.Ala1226Val)
c.2681C>T (p.Ala894Val)
n.2791C>T
c.3650C>T (p.Ala1217Val)
c.3482C>T (p.Ala1161Val)
 gnomAD v4
9g.123376882C>ACA467089992CRB2c.3678C>A (p.Ala1226=)
c.2682C>A (p.Ala894=)
n.2792C>A
c.3651C>A (p.Ala1217=)
c.3483C>A (p.Ala1161=)
 gnomAD v4
9g.123376882C=CA1877946407CRB2c.3678C= (p.Ala1226=)
c.2682C= (p.Ala894=)
n.2792C=
c.3651C= (p.Ala1217=)
c.3483C= (p.Ala1161=)
9g.123376882C>GCA5232585CRB2c.3678C>G (p.Ala1226=)
c.2682C>G (p.Ala894=)
n.2792C>G
c.3651C>G (p.Ala1217=)
c.3483C>G (p.Ala1161=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.123376882C>TCA5232584CRB2c.3678C>T (p.Ala1226=)
c.2682C>T (p.Ala894=)
n.2792C>T
c.3651C>T (p.Ala1217=)
c.3483C>T (p.Ala1161=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123376883G>ACA5232586CRB2c.3679G>A (p.Val1227Ile)
c.2683G>A (p.Val895Ile)
n.2793G>A
c.3652G>A (p.Val1218Ile)
c.3484G>A (p.Val1162Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123376883G>CCA374869606CRB2c.3679G>C (p.Val1227Leu)
c.2683G>C (p.Val895Leu)
n.2793G>C
c.3652G>C (p.Val1218Leu)
c.3484G>C (p.Val1162Leu)
9g.123376883G=CA1877946411CRB2c.3679G= (p.Val1227=)
c.2683G= (p.Val895=)
n.2793G=
c.3652G= (p.Val1218=)
c.3484G= (p.Val1162=)
9g.123376883G>TCA374869605CRB2c.3679G>T (p.Val1227Leu)
c.2683G>T (p.Val895Leu)
n.2793G>T
c.3652G>T (p.Val1218Leu)
c.3484G>T (p.Val1162Leu)
9g.123376885_123376897delCA2691592047CRB2c.3681_3693del (p.Ala1230SerfsTer?)
c.2685_2697del (p.Ala898SerfsTer?)
n.2795_2807del
c.3654_3666del (p.Ala1221SerfsTer?)
c.3486_3498del (p.Ala1165SerfsTer?)
 gnomAD v4
9g.123376884T>ACA374869607CRB2c.3680T>A (p.Val1227Glu)
c.2684T>A (p.Val895Glu)
n.2794T>A
c.3653T>A (p.Val1218Glu)
c.3485T>A (p.Val1162Glu)
9g.123376884T>CCA374869608CRB2c.3680T>C (p.Val1227Ala)
c.2684T>C (p.Val895Ala)
n.2794T>C
c.3653T>C (p.Val1218Ala)
c.3485T>C (p.Val1162Ala)
9g.123376884T>GCA374869609CRB2c.3680T>G (p.Val1227Gly)
c.2684T>G (p.Val895Gly)
n.2794T>G
c.3653T>G (p.Val1218Gly)
c.3485T>G (p.Val1162Gly)
9g.123376885A=CA1877946416CRB2c.3681A= (p.Val1227=)
c.2685A= (p.Val895=)
n.2795A=
c.3654A= (p.Val1218=)
c.3486A= (p.Val1162=)
9g.123376885A>CCA467090006CRB2c.3681A>C (p.Val1227=)
c.2685A>C (p.Val895=)
n.2795A>C
c.3654A>C (p.Val1218=)
c.3486A>C (p.Val1162=)
 dbSNP
9g.123376885A>GCA467090008CRB2c.3681A>G (p.Val1227=)
c.2685A>G (p.Val895=)
n.2795A>G
c.3654A>G (p.Val1218=)
c.3486A>G (p.Val1162=)
 gnomAD v4
9g.123376885A>TCA467090011CRB2c.3681A>T (p.Val1227=)
c.2685A>T (p.Val895=)
n.2795A>T
c.3654A>T (p.Val1218=)
c.3486A>T (p.Val1162=)
9g.123376886C>ACA5232587CRB2c.3682C>A (p.Pro1228Thr)
c.2686C>A (p.Pro896Thr)
n.2796C>A
c.3655C>A (p.Pro1219Thr)
c.3487C>A (p.Pro1163Thr)
 dbSNP ExAC gnomAD v2
9g.123376886C=CA1877946418CRB2c.3682C= (p.Pro1228=)
c.2686C= (p.Pro896=)
n.2796C=
c.3655C= (p.Pro1219=)
c.3487C= (p.Pro1163=)
9g.123376886C>GCA374869610CRB2c.3682C>G (p.Pro1228Ala)
c.2686C>G (p.Pro896Ala)
n.2796C>G
c.3655C>G (p.Pro1219Ala)
c.3487C>G (p.Pro1163Ala)
9g.123376886C>TCA374869611CRB2c.3682C>T (p.Pro1228Ser)
c.2686C>T (p.Pro896Ser)
n.2796C>T
c.3655C>T (p.Pro1219Ser)
c.3487C>T (p.Pro1163Ser)
9g.123376887C>ACA374869612CRB2c.3683C>A (p.Pro1228His)
c.2687C>A (p.Pro896His)
n.2797C>A
c.3656C>A (p.Pro1219His)
c.3488C>A (p.Pro1163His)
 dbSNP gnomAD v4 COSMIC
9g.123376887C=CA1877946421CRB2c.3683C= (p.Pro1228=)
c.2687C= (p.Pro896=)
n.2797C=
c.3656C= (p.Pro1219=)
c.3488C= (p.Pro1163=)
9g.123376887C>GCA374869613CRB2c.3683C>G (p.Pro1228Arg)
c.2687C>G (p.Pro896Arg)
n.2797C>G
c.3656C>G (p.Pro1219Arg)
c.3488C>G (p.Pro1163Arg)
9g.123376887C>TCA374869614CRB2c.3683C>T (p.Pro1228Leu)
c.2687C>T (p.Pro896Leu)
n.2797C>T
c.3656C>T (p.Pro1219Leu)
c.3488C>T (p.Pro1163Leu)
9g.123376888T>ACA467090025CRB2c.3684T>A (p.Pro1228=)
c.2688T>A (p.Pro896=)
n.2798T>A
c.3657T>A (p.Pro1219=)
c.3489T>A (p.Pro1163=)
 dbSNP gnomAD v3 gnomAD v4
9g.123376888T>CCA467090027CRB2c.3684T>C (p.Pro1228=)
c.2688T>C (p.Pro896=)
n.2798T>C
c.3657T>C (p.Pro1219=)
c.3489T>C (p.Pro1163=)
9g.123376888T>GCA467090029CRB2c.3684T>G (p.Pro1228=)
c.2688T>G (p.Pro896=)
n.2798T>G
c.3657T>G (p.Pro1219=)
c.3489T>G (p.Pro1163=)
9g.123376888T=CA1877946426CRB2c.3684T= (p.Pro1228=)
c.2688T= (p.Pro896=)
n.2798T=
c.3657T= (p.Pro1219=)
c.3489T= (p.Pro1163=)
9g.123376889G>ACA374869615CRB2c.3685G>A (p.Ala1229Thr)
c.2689G>A (p.Ala897Thr)
n.2799G>A
c.3658G>A (p.Ala1220Thr)
c.3490G>A (p.Ala1164Thr)
 gnomAD v4
9g.123376889G>CCA374869616CRB2c.3685G>C (p.Ala1229Pro)
c.2689G>C (p.Ala897Pro)
n.2799G>C
c.3658G>C (p.Ala1220Pro)
c.3490G>C (p.Ala1164Pro)
9g.123376889G>TCA374869617CRB2c.3685G>T (p.Ala1229Ser)
c.2689G>T (p.Ala897Ser)
n.2799G>T
c.3658G>T (p.Ala1220Ser)
c.3490G>T (p.Ala1164Ser)
9g.123376890C>ACA374869618CRB2c.3686C>A (p.Ala1229Glu)
c.2690C>A (p.Ala897Glu)
n.2800C>A
c.3659C>A (p.Ala1220Glu)
c.3491C>A (p.Ala1164Glu)
9g.123376890C=CA1877946432CRB2c.3686C= (p.Ala1229=)
c.2690C= (p.Ala897=)
n.2800C=
c.3659C= (p.Ala1220=)
c.3491C= (p.Ala1164=)
9g.123376890C>GCA199643034CRB2c.3686C>G (p.Ala1229Gly)
c.2690C>G (p.Ala897Gly)
n.2800C>G
c.3659C>G (p.Ala1220Gly)
c.3491C>G (p.Ala1164Gly)
 dbSNP gnomAD v4
9g.123376890C>TCA199643037CRB2c.3686C>T (p.Ala1229Val)
c.2690C>T (p.Ala897Val)
n.2800C>T
c.3659C>T (p.Ala1220Val)
c.3491C>T (p.Ala1164Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123376891A>CCA467090044CRB2c.3687A>C (p.Ala1229=)
c.2691A>C (p.Ala897=)
n.2801A>C
c.3660A>C (p.Ala1220=)
c.3492A>C (p.Ala1164=)
9g.123376891A>GCA467090046CRB2c.3687A>G (p.Ala1229=)
c.2691A>G (p.Ala897=)
n.2801A>G
c.3660A>G (p.Ala1220=)
c.3492A>G (p.Ala1164=)
9g.123376891A>TCA467090048CRB2c.3687A>T (p.Ala1229=)
c.2691A>T (p.Ala897=)
n.2801A>T
c.3660A>T (p.Ala1220=)
c.3492A>T (p.Ala1164=)
9g.123376892G>ACA374869619CRB2c.3688G>A (p.Ala1230Thr)
c.2692G>A (p.Ala898Thr)
n.2802G>A
c.3661G>A (p.Ala1221Thr)
c.3493G>A (p.Ala1165Thr)
9g.123376892G>CCA374869620CRB2c.3688G>C (p.Ala1230Pro)
c.2692G>C (p.Ala898Pro)
n.2802G>C
c.3661G>C (p.Ala1221Pro)
c.3493G>C (p.Ala1165Pro)
9g.123376892G>TCA374869621CRB2c.3688G>T (p.Ala1230Ser)
c.2692G>T (p.Ala898Ser)
n.2802G>T
c.3661G>T (p.Ala1221Ser)
c.3493G>T (p.Ala1165Ser)
 gnomAD v4
9g.123376893C>ACA374869622CRB2c.3689C>A (p.Ala1230Asp)
c.2693C>A (p.Ala898Asp)
n.2803C>A
c.3662C>A (p.Ala1221Asp)
c.3494C>A (p.Ala1165Asp)
9g.123376893C>GCA374869623CRB2c.3689C>G (p.Ala1230Gly)
c.2693C>G (p.Ala898Gly)
n.2803C>G
c.3662C>G (p.Ala1221Gly)
c.3494C>G (p.Ala1165Gly)
9g.123376893C>TCA374869624CRB2c.3689C>T (p.Ala1230Val)
c.2693C>T (p.Ala898Val)
n.2803C>T
c.3662C>T (p.Ala1221Val)
c.3494C>T (p.Ala1165Val)
 gnomAD v4 COSMIC
9g.123376894C>ACA467090063CRB2c.3690C>A (p.Ala1230=)
c.2694C>A (p.Ala898=)
n.2804C>A
c.3663C>A (p.Ala1221=)
c.3495C>A (p.Ala1165=)
9g.123376894C>GCA467090064CRB2c.3690C>G (p.Ala1230=)
c.2694C>G (p.Ala898=)
n.2804C>G
c.3663C>G (p.Ala1221=)
c.3495C>G (p.Ala1165=)
9g.123376894C>TCA467090067CRB2c.3690C>T (p.Ala1230=)
c.2694C>T (p.Ala898=)
n.2804C>T
c.3663C>T (p.Ala1221=)
c.3495C>T (p.Ala1165=)
9g.123376895T>ACA374869626CRB2c.3691T>A (p.Cys1231Ser)
c.2695T>A (p.Cys899Ser)
n.2805T>A
c.3664T>A (p.Cys1222Ser)
c.3496T>A (p.Cys1166Ser)
9g.123376895T>CCA374869625CRB2c.3691T>C (p.Cys1231Arg)
c.2695T>C (p.Cys899Arg)
n.2805T>C
c.3664T>C (p.Cys1222Arg)
c.3496T>C (p.Cys1166Arg)
9g.123376895T>GCA199643040CRB2c.3691T>G (p.Cys1231Gly)
c.2695T>G (p.Cys899Gly)
n.2805T>G
c.3664T>G (p.Cys1222Gly)
c.3496T>G (p.Cys1166Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123376895T=CA1877946438CRB2c.3691T= (p.Cys1231=)
c.2695T= (p.Cys899=)
n.2805T=
c.3664T= (p.Cys1222=)
c.3496T= (p.Cys1166=)
9g.123376896G>ACA5232588CRB2c.3692G>A (p.Cys1231Tyr)
c.2696G>A (p.Cys899Tyr)
n.2806G>A
c.3665G>A (p.Cys1222Tyr)
c.3497G>A (p.Cys1166Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.123376896G>CCA374869627CRB2c.3692G>C (p.Cys1231Ser)
c.2696G>C (p.Cys899Ser)
n.2806G>C
c.3665G>C (p.Cys1222Ser)
c.3497G>C (p.Cys1166Ser)
9g.123376896G=CA1877946441CRB2c.3692G= (p.Cys1231=)
c.2696G= (p.Cys899=)
n.2806G=
c.3665G= (p.Cys1222=)
c.3497G= (p.Cys1166=)
9g.123376896G>TCA374869628CRB2c.3692G>T (p.Cys1231Phe)
c.2696G>T (p.Cys899Phe)
n.2806G>T
c.3665G>T (p.Cys1222Phe)
c.3497G>T (p.Cys1166Phe)
9g.123376897T>ACA374869629CRB2c.3693T>A (p.Cys1231Ter)
c.2697T>A (p.Cys899Ter)
n.2807T>A
c.3666T>A (p.Cys1222Ter)
c.3498T>A (p.Cys1166Ter)
9g.123376897T>CCA467090082CRB2c.3693T>C (p.Cys1231=)
c.2697T>C (p.Cys899=)
n.2807T>C
c.3666T>C (p.Cys1222=)
c.3498T>C (p.Cys1166=)
9g.123376897T>GCA374869630CRB2c.3693T>G (p.Cys1231Trp)
c.2697T>G (p.Cys899Trp)
n.2807T>G
c.3666T>G (p.Cys1222Trp)
c.3498T>G (p.Cys1166Trp)
9g.123376898G>ACA374869631CRB2c.3694G>A (p.Ala1232Thr)
c.2698G>A (p.Ala900Thr)
n.2808G>A
c.3667G>A (p.Ala1223Thr)
c.3499G>A (p.Ala1167Thr)
9g.123376898G>CCA374869633CRB2c.3694G>C (p.Ala1232Pro)
c.2698G>C (p.Ala900Pro)
n.2808G>C
c.3667G>C (p.Ala1223Pro)
c.3499G>C (p.Ala1167Pro)
9g.123376898G>TCA374869632CRB2c.3694G>T (p.Ala1232Ser)
c.2698G>T (p.Ala900Ser)
n.2808G>T
c.3667G>T (p.Ala1223Ser)
c.3499G>T (p.Ala1167Ser)
 gnomAD v4
9g.123376899C>ACA374869634CRB2c.3695C>A (p.Ala1232Asp)
c.2699C>A (p.Ala900Asp)
n.2809C>A
c.3668C>A (p.Ala1223Asp)
c.3500C>A (p.Ala1167Asp)
 gnomAD v4
9g.123376899C>GCA374869635CRB2c.3695C>G (p.Ala1232Gly)
c.2699C>G (p.Ala900Gly)
n.2809C>G
c.3668C>G (p.Ala1223Gly)
c.3500C>G (p.Ala1167Gly)
9g.123376899C>TCA374869636CRB2c.3695C>T (p.Ala1232Val)
c.2699C>T (p.Ala900Val)
n.2809C>T
c.3668C>T (p.Ala1223Val)
c.3500C>T (p.Ala1167Val)
 gnomAD v4
9g.123376900C>ACA467090102CRB2c.3696C>A (p.Ala1232=)
c.2700C>A (p.Ala900=)
n.2810C>A
c.3669C>A (p.Ala1223=)
c.3501C>A (p.Ala1167=)
 gnomAD v4
9g.123376900C>GCA467090100CRB2c.3696C>G (p.Ala1232=)
c.2700C>G (p.Ala900=)
n.2810C>G
c.3669C>G (p.Ala1223=)
c.3501C>G (p.Ala1167=)
9g.123376900C>TCA467090099CRB2c.3696C>T (p.Ala1232=)
c.2700C>T (p.Ala900=)
n.2810C>T
c.3669C>T (p.Ala1223=)
c.3501C>T (p.Ala1167=)
9g.123376901T>ACA374869637CRB2c.3697T>A (p.Cys1233Ser)
c.2701T>A (p.Cys901Ser)
n.2811T>A
c.3670T>A (p.Cys1224Ser)
c.3502T>A (p.Cys1168Ser)
9g.123376901T>CCA374869638CRB2c.3697T>C (p.Cys1233Arg)
c.2701T>C (p.Cys901Arg)
n.2811T>C
c.3670T>C (p.Cys1224Arg)
c.3502T>C (p.Cys1168Arg)
9g.123376901T>GCA374869639CRB2c.3697T>G (p.Cys1233Gly)
c.2701T>G (p.Cys901Gly)
n.2811T>G
c.3670T>G (p.Cys1224Gly)
c.3502T>G (p.Cys1168Gly)
9g.123376901T=CA1877946450CRB2c.3697T= (p.Cys1233=)
c.2701T= (p.Cys901=)
n.2811T=
c.3670T= (p.Cys1224=)
c.3502T= (p.Cys1168=)
9g.123376902G>ACA374869640CRB2c.3698G>A (p.Cys1233Tyr)
c.2702G>A (p.Cys901Tyr)
n.2812G>A
c.3671G>A (p.Cys1224Tyr)
c.3503G>A (p.Cys1168Tyr)
 gnomAD v4
9g.123376902G>CCA374869641CRB2c.3698G>C (p.Cys1233Ser)
c.2702G>C (p.Cys901Ser)
n.2812G>C
c.3671G>C (p.Cys1224Ser)
c.3503G>C (p.Cys1168Ser)
9g.123376902G=CA1877946456CRB2c.3698G= (p.Cys1233=)
c.2702G= (p.Cys901=)
n.2812G=
c.3671G= (p.Cys1224=)
c.3503G= (p.Cys1168=)
9g.123376902G>TCA374869642CRB2c.3698G>T (p.Cys1233Phe)
c.2702G>T (p.Cys901Phe)
n.2812G>T
c.3671G>T (p.Cys1224Phe)
c.3503G>T (p.Cys1168Phe)
 dbSNP gnomAD v3 gnomAD v4
9g.123376902_123376906delinsGCCTCCA1877946455CRB2c.3698_3702delinsGCCTC (p.Cys1233=)
c.2702_2706delinsGCCTC (p.Cys901=)
n.2812_2816delinsGCCTC
c.3671_3675delinsGCCTC (p.Cys1224=)
c.3503_3507delinsGCCTC (p.Cys1168=)
9g.123376902_123376910dupCA5232589CRB2c.3698_3706dup (p.Leu1235_Leu1236insArgLeuLeu)
c.2702_2710dup (p.Leu903_Leu904insArgLeuLeu)
n.2812_2820dup
c.3671_3679dup (p.Leu1226_Leu1227insArgLeuLeu)
c.3503_3511dup (p.Leu1170_Leu1171insArgLeuLeu)
 dbSNP ExAC gnomAD v2
9g.123376902_123376911delinsGCCTCCTCCTCA1877946458CRB2c.3698_3707delinsGCCTCCTCCT (p.Cys1233=)
c.2702_2711delinsGCCTCCTCCT (p.Cys901=)
n.2812_2821delinsGCCTCCTCCT
c.3671_3680delinsGCCTCCTCCT (p.Cys1224=)
c.3503_3512delinsGCCTCCTCCT (p.Cys1168=)
9g.123376903C>ACA374869643CRB2c.3699C>A (p.Cys1233Ter)
c.2703C>A (p.Cys901Ter)
n.2813C>A
c.3672C>A (p.Cys1224Ter)
c.3504C>A (p.Cys1168Ter)
 gnomAD v4
9g.123376903C>GCA374869644CRB2c.3699C>G (p.Cys1233Trp)
c.2703C>G (p.Cys901Trp)
n.2813C>G
c.3672C>G (p.Cys1224Trp)
c.3504C>G (p.Cys1168Trp)
9g.123376903C>TCA467090166CRB2c.3699C>T (p.Cys1233=)
c.2703C>T (p.Cys901=)
n.2813C>T
c.3672C>T (p.Cys1224=)
c.3504C>T (p.Cys1168=)
9g.123376904_123376907delCA891862795CRB2c.3700_3703del (p.Leu1234SerfsTer?)
c.2704_2707del (p.Leu902SerfsTer?)
n.2814_2817del
c.3673_3676del (p.Leu1225SerfsTer?)
c.3505_3508del (p.Leu1169SerfsTer?)
 ClinVar dbSNP
9g.123376918_123376920dupCA5232590CRB2c.3714_3716dup (p.Leu1239_Gly1240insLeu)
c.2718_2720dup (p.Leu907_Gly908insLeu)
n.2828_2830dup
c.3687_3689dup (p.Leu1230_Gly1231insLeu)
c.3519_3521dup (p.Leu1174_Gly1175insLeu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123376915_123376920dupCA5232592CRB2c.3711_3716dup (p.Leu1239_Gly1240insLeuLeu)
c.2715_2720dup (p.Leu907_Gly908insLeuLeu)
n.2825_2830dup
c.3684_3689dup (p.Leu1230_Gly1231insLeuLeu)
c.3516_3521dup (p.Leu1174_Gly1175insLeuLeu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123376918_123376920delCA5232591CRB2c.3714_3716del (p.Leu1239del)
c.2718_2720del (p.Leu907del)
n.2828_2830del
c.3687_3689del (p.Leu1230del)
c.3519_3521del (p.Leu1174del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.123376915_123376920delCA5232593CRB2c.3711_3716del (p.Leu1238_Leu1239del)
c.2715_2720del (p.Leu906_Leu907del)
n.2825_2830del
c.3684_3689del (p.Leu1229_Leu1230del)
c.3516_3521del (p.Leu1173_Leu1174del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123376912_123376920delCA467090158CRB2c.3708_3716del (p.Leu1237_Leu1239del)
c.2712_2720del (p.Leu905_Leu907del)
n.2822_2830del
c.3681_3689del (p.Leu1228_Leu1230del)
c.3513_3521del (p.Leu1172_Leu1174del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123376904C>ACA374869645CRB2c.3700C>A (p.Leu1234Ile)
c.2704C>A (p.Leu902Ile)
n.2814C>A
c.3673C>A (p.Leu1225Ile)
c.3505C>A (p.Leu1169Ile)
 gnomAD v4
9g.123376904C=CA1877946488CRB2c.3700C= (p.Leu1234=)
c.2704C= (p.Leu902=)
n.2814C=
c.3673C= (p.Leu1225=)
c.3505C= (p.Leu1169=)
9g.123376904C>GCA374869647CRB2c.3700C>G (p.Leu1234Val)
c.2704C>G (p.Leu902Val)
n.2814C>G
c.3673C>G (p.Leu1225Val)
c.3505C>G (p.Leu1169Val)
 dbSNP
9g.123376904C>TCA374869646CRB2c.3700C>T (p.Leu1234Phe)
c.2704C>T (p.Leu902Phe)
n.2814C>T
c.3673C>T (p.Leu1225Phe)
c.3505C>T (p.Leu1169Phe)
9g.123376905T>ACA374869648CRB2c.3701T>A (p.Leu1234His)
c.2705T>A (p.Leu902His)
n.2815T>A
c.3674T>A (p.Leu1225His)
c.3506T>A (p.Leu1169His)
9g.123376905T>CCA374869649CRB2c.3701T>C (p.Leu1234Pro)
c.2705T>C (p.Leu902Pro)
n.2815T>C
c.3674T>C (p.Leu1225Pro)
c.3506T>C (p.Leu1169Pro)
9g.123376905T>GCA374869650CRB2c.3701T>G (p.Leu1234Arg)
c.2705T>G (p.Leu902Arg)
n.2815T>G
c.3674T>G (p.Leu1225Arg)
c.3506T>G (p.Leu1169Arg)
9g.123376906_123376907insTTCCA2691592048CRB2c.3702_3703insTTC (p.Leu1234_Leu1235insPhe)
c.2706_2707insTTC (p.Leu902_Leu903insPhe)
n.2816_2817insTTC
c.3675_3676insTTC (p.Leu1225_Leu1226insPhe)
c.3507_3508insTTC (p.Leu1169_Leu1170insPhe)
 gnomAD v4
9g.123376906C>ACA467090186CRB2c.3702C>A (p.Leu1234=)
c.2706C>A (p.Leu902=)
n.2816C>A
c.3675C>A (p.Leu1225=)
c.3507C>A (p.Leu1169=)
9g.123376906C=CA1877946491CRB2c.3702C= (p.Leu1234=)
c.2706C= (p.Leu902=)
n.2816C=
c.3675C= (p.Leu1225=)
c.3507C= (p.Leu1169=)
9g.123376906C>GCA5232594CRB2c.3702C>G (p.Leu1234=)
c.2706C>G (p.Leu902=)
n.2816C>G
c.3675C>G (p.Leu1225=)
c.3507C>G (p.Leu1169=)
 dbSNP ExAC gnomAD v2
9g.123376906C>TCA467090189CRB2c.3702C>T (p.Leu1234=)
c.2706C>T (p.Leu902=)
n.2816C>T
c.3675C>T (p.Leu1225=)
c.3507C>T (p.Leu1169=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.123376907C>ACA374869651CRB2c.3703C>A (p.Leu1235Ile)
c.2707C>A (p.Leu903Ile)
n.2817C>A
c.3676C>A (p.Leu1226Ile)
c.3508C>A (p.Leu1170Ile)
9g.123376907C>GCA374869652CRB2c.3703C>G (p.Leu1235Val)
c.2707C>G (p.Leu903Val)
n.2817C>G
c.3676C>G (p.Leu1226Val)
c.3508C>G (p.Leu1170Val)
9g.123376907C>TCA374869653CRB2c.3703C>T (p.Leu1235Phe)
c.2707C>T (p.Leu903Phe)
n.2817C>T
c.3676C>T (p.Leu1226Phe)
c.3508C>T (p.Leu1170Phe)
 gnomAD v4
9g.123376908T>ACA374869654CRB2c.3704T>A (p.Leu1235His)
c.2708T>A (p.Leu903His)
n.2818T>A
c.3677T>A (p.Leu1226His)
c.3509T>A (p.Leu1170His)
9g.123376908T>CCA374869655CRB2c.3704T>C (p.Leu1235Pro)
c.2708T>C (p.Leu903Pro)
n.2818T>C
c.3677T>C (p.Leu1226Pro)
c.3509T>C (p.Leu1170Pro)
9g.123376908T>GCA374869656CRB2c.3704T>G (p.Leu1235Arg)
c.2708T>G (p.Leu903Arg)
n.2818T>G
c.3677T>G (p.Leu1226Arg)
c.3509T>G (p.Leu1170Arg)
9g.123376908T=CA1877946494CRB2c.3704T= (p.Leu1235=)
c.2708T= (p.Leu903=)
n.2818T=
c.3677T= (p.Leu1226=)
c.3509T= (p.Leu1170=)
9g.123376909C>ACA467090203CRB2c.3705C>A (p.Leu1235=)
c.2709C>A (p.Leu903=)
n.2819C>A
c.3678C>A (p.Leu1226=)
c.3510C>A (p.Leu1170=)
9g.123376909C=CA1877946499CRB2c.3705C= (p.Leu1235=)
c.2709C= (p.Leu903=)
n.2819C=
c.3678C= (p.Leu1226=)
c.3510C= (p.Leu1170=)
9g.123376909C>GCA467090205CRB2c.3705C>G (p.Leu1235=)
c.2709C>G (p.Leu903=)
n.2819C>G
c.3678C>G (p.Leu1226=)
c.3510C>G (p.Leu1170=)
 gnomAD v4
9g.123376909C>TCA5232595CRB2c.3705C>T (p.Leu1235=)
c.2709C>T (p.Leu903=)
n.2819C>T
c.3678C>T (p.Leu1226=)
c.3510C>T (p.Leu1170=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123376910_123376911insCCCCA1877946497CRB2c.3706_3707insCCC (p.Leu1235_Leu1236insPro)
c.2710_2711insCCC (p.Leu903_Leu904insPro)
n.2820_2821insCCC
c.3679_3680insCCC (p.Leu1226_Leu1227insPro)
c.3511_3512insCCC (p.Leu1170_Leu1171insPro)
 dbSNP
9g.123376910C>ACA374869657CRB2c.3706C>A (p.Leu1236Ile)
c.2710C>A (p.Leu904Ile)
n.2820C>A
c.3679C>A (p.Leu1227Ile)
c.3511C>A (p.Leu1171Ile)
9g.123376910C=CA1877946502CRB2c.3706C= (p.Leu1236=)
c.2710C= (p.Leu904=)
n.2820C=
c.3679C= (p.Leu1227=)
c.3511C= (p.Leu1171=)
9g.123376910C>GCA374869658CRB2c.3706C>G (p.Leu1236Val)
c.2710C>G (p.Leu904Val)
n.2820C>G
c.3679C>G (p.Leu1227Val)
c.3511C>G (p.Leu1171Val)
9g.123376910C>TCA374869659CRB2c.3706C>T (p.Leu1236Phe)
c.2710C>T (p.Leu904Phe)
n.2820C>T
c.3679C>T (p.Leu1227Phe)
c.3511C>T (p.Leu1171Phe)
 dbSNP gnomAD v2 gnomAD v4
9g.123376911T>ACA374869662CRB2c.3707T>A (p.Leu1236His)
c.2711T>A (p.Leu904His)
n.2821T>A
c.3680T>A (p.Leu1227His)
c.3512T>A (p.Leu1171His)
9g.123376911T>CCA374869661CRB2c.3707T>C (p.Leu1236Pro)
c.2711T>C (p.Leu904Pro)
n.2821T>C
c.3680T>C (p.Leu1227Pro)
c.3512T>C (p.Leu1171Pro)
9g.123376911T>GCA374869660CRB2c.3707T>G (p.Leu1236Arg)
c.2711T>G (p.Leu904Arg)
n.2821T>G
c.3680T>G (p.Leu1227Arg)
c.3512T>G (p.Leu1171Arg)
9g.123376911_123376931delCA2691592049CRB2c.3707_3727del (p.Leu1236_Ser1243delinsPro)
c.2711_2731del (p.Leu904_Ser911delinsPro)
n.2821_2841del
c.3680_3700del (p.Leu1227_Ser1234delinsPro)
c.3512_3532del (p.Leu1171_Ser1178delinsPro)
 gnomAD v4
9g.123376912C>ACA467090218CRB2c.3708C>A (p.Leu1236=)
c.2712C>A (p.Leu904=)
n.2822C>A
c.3681C>A (p.Leu1227=)
c.3513C>A (p.Leu1171=)
9g.123376912C>GCA467090220CRB2c.3708C>G (p.Leu1236=)
c.2712C>G (p.Leu904=)
n.2822C>G
c.3681C>G (p.Leu1227=)
c.3513C>G (p.Leu1171=)
9g.123376912C>TCA467090222CRB2c.3708C>T (p.Leu1236=)
c.2712C>T (p.Leu904=)
n.2822C>T
c.3681C>T (p.Leu1227=)
c.3513C>T (p.Leu1171=)
 gnomAD v4
9g.123376913C>ACA5232596CRB2c.3709C>A (p.Leu1237Ile)
c.2713C>A (p.Leu905Ile)
n.2823C>A
c.3682C>A (p.Leu1228Ile)
c.3514C>A (p.Leu1172Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123376913C=CA1877946508CRB2c.3709C= (p.Leu1237=)
c.2713C= (p.Leu905=)
n.2823C=
c.3682C= (p.Leu1228=)
c.3514C= (p.Leu1172=)
9g.123376913C>GCA5232598CRB2c.3709C>G (p.Leu1237Val)
c.2713C>G (p.Leu905Val)
n.2823C>G
c.3682C>G (p.Leu1228Val)
c.3514C>G (p.Leu1172Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123376913C>TCA5232597CRB2c.3709C>T (p.Leu1237Phe)
c.2713C>T (p.Leu905Phe)
n.2823C>T
c.3682C>T (p.Leu1228Phe)
c.3514C>T (p.Leu1172Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.123376914T>ACA374869663CRB2c.3710T>A (p.Leu1237His)
c.2714T>A (p.Leu905His)
n.2824T>A
c.3683T>A (p.Leu1228His)
c.3515T>A (p.Leu1172His)
9g.123376914T>CCA374869664CRB2c.3710T>C (p.Leu1237Pro)
c.2714T>C (p.Leu905Pro)
n.2824T>C
c.3683T>C (p.Leu1228Pro)
c.3515T>C (p.Leu1172Pro)
9g.123376914T>GCA374869665CRB2c.3710T>G (p.Leu1237Arg)
c.2714T>G (p.Leu905Arg)
n.2824T>G
c.3683T>G (p.Leu1228Arg)
c.3515T>G (p.Leu1172Arg)
9g.123376915C>ACA467090240CRB2c.3711C>A (p.Leu1237=)
c.2715C>A (p.Leu905=)
n.2825C>A
c.3684C>A (p.Leu1228=)
c.3516C>A (p.Leu1172=)
 gnomAD v4
9g.123376915C>GCA467090243CRB2c.3711C>G (p.Leu1237=)
c.2715C>G (p.Leu905=)
n.2825C>G
c.3684C>G (p.Leu1228=)
c.3516C>G (p.Leu1172=)
 gnomAD v4
9g.123376915C>TCA467090245CRB2c.3711C>T (p.Leu1237=)
c.2715C>T (p.Leu905=)
n.2825C>T
c.3684C>T (p.Leu1228=)
c.3516C>T (p.Leu1172=)
 gnomAD v4
9g.123376916C>ACA374869666CRB2c.3712C>A (p.Leu1238Ile)
c.2716C>A (p.Leu906Ile)
n.2826C>A
c.3685C>A (p.Leu1229Ile)
c.3517C>A (p.Leu1173Ile)
9g.123376916C=CA1877946516CRB2c.3712C= (p.Leu1238=)
c.2716C= (p.Leu906=)
n.2826C=
c.3685C= (p.Leu1229=)
c.3517C= (p.Leu1173=)
9g.123376916C>GCA374869667CRB2c.3712C>G (p.Leu1238Val)
c.2716C>G (p.Leu906Val)
n.2826C>G
c.3685C>G (p.Leu1229Val)
c.3517C>G (p.Leu1173Val)
9g.123376916C>TCA5232599CRB2c.3712C>T (p.Leu1238Phe)
c.2716C>T (p.Leu906Phe)
n.2826C>T
c.3685C>T (p.Leu1229Phe)
c.3517C>T (p.Leu1173Phe)
 dbSNP ExAC gnomAD v4
9g.123376917T>ACA374869668CRB2c.3713T>A (p.Leu1238His)
c.2717T>A (p.Leu906His)
n.2827T>A
c.3686T>A (p.Leu1229His)
c.3518T>A (p.Leu1173His)
9g.123376917T>CCA374869669CRB2c.3713T>C (p.Leu1238Pro)
c.2717T>C (p.Leu906Pro)
n.2827T>C
c.3686T>C (p.Leu1229Pro)
c.3518T>C (p.Leu1173Pro)
9g.123376917T>GCA374869670CRB2c.3713T>G (p.Leu1238Arg)
c.2717T>G (p.Leu906Arg)
n.2827T>G
c.3686T>G (p.Leu1229Arg)
c.3518T>G (p.Leu1173Arg)
 gnomAD v4
9g.123376917_123376923delinsTCCTGGGCA1877946520CRB2c.3713_3719delinsTCCTGGG (p.Leu1238=)
c.2717_2723delinsTCCTGGG (p.Leu906=)
n.2827_2833delinsTCCTGGG
c.3686_3692delinsTCCTGGG (p.Leu1229=)
c.3518_3524delinsTCCTGGG (p.Leu1173=)

Number of alleles fetched