Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.123376792_123376824del | CA2691591981 | CRB2 | c.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 |
9 | g.123376809C>A | CA2691592005 | CRB2 | c.3634-29C>A (n.3634-29C>A) c.2638-29C>A (n.2638-29C>A) n.2748-29C>A c.3607-29C>A (n.3607-29C>A) c.3439-29C>A (n.3439-29C>A) | gnomAD v4 |
9 | g.123376809C>T | CA2691592006 | CRB2 | c.3634-29C>T (n.3634-29C>T) c.2638-29C>T (n.2638-29C>T) n.2748-29C>T c.3607-29C>T (n.3607-29C>T) c.3439-29C>T (n.3439-29C>T) | gnomAD v4 |
9 | g.123376810T>A | CA2691592008 | CRB2 | c.3634-28T>A (n.3634-28T>A) c.2638-28T>A (n.2638-28T>A) n.2748-28T>A c.3607-28T>A (n.3607-28T>A) c.3439-28T>A (n.3439-28T>A) | gnomAD v4 |
9 | g.123376812A>G | CA2691592009 | CRB2 | c.3634-26A>G (n.3634-26A>G) c.2638-26A>G (n.2638-26A>G) n.2748-26A>G c.3607-26A>G (n.3607-26A>G) c.3439-26A>G (n.3439-26A>G) | gnomAD v4 |
9 | g.123376813G>T | CA2691592010 | CRB2 | c.3634-25G>T (n.3634-25G>T) c.2638-25G>T (n.2638-25G>T) n.2748-25G>T c.3607-25G>T (n.3607-25G>T) c.3439-25G>T (n.3439-25G>T) | gnomAD v4 |
9 | g.123376814G>A | CA5232571 | CRB2 | c.3634-24G>A (n.3634-24G>A) c.2638-24G>A (n.2638-24G>A) n.2748-24G>A c.3607-24G>A (n.3607-24G>A) c.3439-24G>A (n.3439-24G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.123376814G= | CA1877946289 | CRB2 | c.3634-24G= (n.3634-24G=) c.2638-24G= (n.2638-24G=) n.2748-24G= c.3607-24G= (n.3607-24G=) c.3439-24G= (n.3439-24G=) | |
9 | g.123376814G>T | CA2691592011 | CRB2 | c.3634-24G>T (n.3634-24G>T) c.2638-24G>T (n.2638-24G>T) n.2748-24G>T c.3607-24G>T (n.3607-24G>T) c.3439-24G>T (n.3439-24G>T) | gnomAD v4 |
9 | g.123376815C>A | CA2691592012 | CRB2 | c.3634-23C>A (n.3634-23C>A) c.2638-23C>A (n.2638-23C>A) n.2748-23C>A c.3607-23C>A (n.3607-23C>A) c.3439-23C>A (n.3439-23C>A) | gnomAD v4 |
9 | g.123376815C>T | CA2691592014 | CRB2 | c.3634-23C>T (n.3634-23C>T) c.2638-23C>T (n.2638-23C>T) n.2748-23C>T c.3607-23C>T (n.3607-23C>T) c.3439-23C>T (n.3439-23C>T) | gnomAD v4 |
9 | g.123376816C>A | CA2691592015 | CRB2 | c.3634-22C>A (n.3634-22C>A) c.2638-22C>A (n.2638-22C>A) n.2748-22C>A c.3607-22C>A (n.3607-22C>A) c.3439-22C>A (n.3439-22C>A) | gnomAD v4 |
9 | g.123376820_123376825dup | CA2691592016 | CRB2 | c.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 |
9 | g.123376818C>A | CA2579446750 | CRB2 | c.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 |
9 | g.123376818C= | CA1877946292 | CRB2 | c.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=) | |
9 | g.123376818C>T | CA590936437 | CRB2 | c.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 |
9 | g.123376819G>A | CA199642999 | CRB2 | c.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 |
9 | g.123376819G>C | CA2691592020 | CRB2 | c.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 |
9 | g.123376819G= | CA1877946296 | CRB2 | c.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=) | |
9 | g.123376819G>T | CA2691592019 | CRB2 | c.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 |
9 | g.123376820G>A | CA2691592022 | CRB2 | c.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 |
9 | g.123376825_123376829del | CA2691592021 | CRB2 | c.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 |
9 | g.123376821T>C | CA2691592023 | CRB2 | c.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 |
9 | g.123376821T>G | CA590936438 | CRB2 | c.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 |
9 | g.123376821T= | CA1877946298 | CRB2 | c.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=) | |
9 | g.123376822G>A | CA1877946302 | CRB2 | c.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 |
9 | g.123376822G= | CA1877946300 | CRB2 | c.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=) | |
9 | g.123376823T>G | CA2720612349 | CRB2 | c.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 |
9 | g.123376824C>A | CA2579446751 | CRB2 | c.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 |
9 | g.123376824C= | CA1877946303 | CRB2 | c.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=) | |
9 | g.123376824C>T | CA5232572 | CRB2 | c.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 |
9 | g.123376825G>A | CA5232573 | CRB2 | c.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 |
9 | g.123376825G>C | CA590936439 | CRB2 | c.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 |
9 | g.123376825G= | CA1877946306 | CRB2 | c.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=) | |
9 | g.123376825G>T | CA2691592029 | CRB2 | c.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 |
9 | g.123376826T>C | CA2691592031 | CRB2 | c.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 |
9 | g.123376826T>G | CA590936440 | CRB2 | c.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 |
9 | g.123376826T= | CA1877946309 | CRB2 | c.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=) | |
9 | g.123376827G>A | CA2691592033 | CRB2 | c.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 |
9 | g.123376828dup | CA2691592034 | CRB2 | c.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 |
9 | g.123376829C>A | CA2691592035 | CRB2 | c.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 |
9 | g.123376829C= | CA1877946312 | CRB2 | c.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=) | |
9 | g.123376829C>T | CA1877946313 | CRB2 | c.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 |
9 | g.123376831C= | CA1877946316 | CRB2 | c.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=) | |
9 | g.123376831C>T | CA5232574 | CRB2 | c.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 |
9 | g.123376833T>C | CA590936441 | CRB2 | c.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 |
9 | g.123376833T>G | CA2785875862 | CRB2 | c.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) | |
9 | g.123376833T= | CA1877946318 | CRB2 | c.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=) | |
9 | g.123376834G>A | CA2691592036 | CRB2 | c.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 |
9 | g.123376835C>A | CA2785875863 | CRB2 | c.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) | |
9 | g.123376835C= | CA1877946320 | CRB2 | c.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=) | |
9 | g.123376835C>T | CA5232575 | CRB2 | c.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 |
9 | g.123376836A>C | CA374869515 | CRB2 | c.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) | |
9 | g.123376836A>G | CA374869514 | CRB2 | c.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) | |
9 | g.123376836A>T | CA374869513 | CRB2 | c.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) | |
9 | g.123376837G>A | CA374869516 | CRB2 | c.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) | |
9 | g.123376837G>C | CA374869517 | CRB2 | c.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) | |
9 | g.123376837G>T | CA374869518 | CRB2 | c.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) | |
9 | g.123376838A>C | CA374869519 | CRB2 | c.3634A>C (p.Lys1212Gln) c.2638A>C (p.Lys880Gln) n.2748A>C c.3607A>C (p.Lys1203Gln) c.3439A>C (p.Lys1147Gln) | |
9 | g.123376838A>G | CA374869520 | CRB2 | c.3634A>G (p.Lys1212Glu) c.2638A>G (p.Lys880Glu) n.2748A>G c.3607A>G (p.Lys1203Glu) c.3439A>G (p.Lys1147Glu) | |
9 | g.123376838A>T | CA374869521 | CRB2 | c.3634A>T (p.Lys1212Ter) c.2638A>T (p.Lys880Ter) n.2748A>T c.3607A>T (p.Lys1203Ter) c.3439A>T (p.Lys1147Ter) | |
9 | g.123376839A>C | CA374869522 | CRB2 | c.3635A>C (p.Lys1212Thr) c.2639A>C (p.Lys880Thr) n.2749A>C c.3608A>C (p.Lys1203Thr) c.3440A>C (p.Lys1147Thr) | |
9 | g.123376839A>G | CA374869524 | CRB2 | c.3635A>G (p.Lys1212Arg) c.2639A>G (p.Lys880Arg) n.2749A>G c.3608A>G (p.Lys1203Arg) c.3440A>G (p.Lys1147Arg) | |
9 | g.123376839A>T | CA374869523 | CRB2 | c.3635A>T (p.Lys1212Met) c.2639A>T (p.Lys880Met) n.2749A>T c.3608A>T (p.Lys1203Met) c.3440A>T (p.Lys1147Met) | |
9 | g.123376840G>A | CA5232576 | CRB2 | c.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 |
9 | g.123376840G>C | CA374869525 | CRB2 | c.3636G>C (p.Lys1212Asn) c.2640G>C (p.Lys880Asn) n.2750G>C c.3609G>C (p.Lys1203Asn) c.3441G>C (p.Lys1147Asn) | |
9 | g.123376840G= | CA1877946323 | CRB2 | c.3636G= (p.Lys1212=) c.2640G= (p.Lys880=) n.2750G= c.3609G= (p.Lys1203=) c.3441G= (p.Lys1147=) | |
9 | g.123376840G>T | CA374869526 | CRB2 | c.3636G>T (p.Lys1212Asn) c.2640G>T (p.Lys880Asn) n.2750G>T c.3609G>T (p.Lys1203Asn) c.3441G>T (p.Lys1147Asn) | |
9 | g.123376841G>A | CA374869527 | CRB2 | c.3637G>A (p.Gly1213Ser) c.2641G>A (p.Gly881Ser) n.2751G>A c.3610G>A (p.Gly1204Ser) c.3442G>A (p.Gly1148Ser) | |
9 | g.123376841G>C | CA374869528 | CRB2 | c.3637G>C (p.Gly1213Arg) c.2641G>C (p.Gly881Arg) n.2751G>C c.3610G>C (p.Gly1204Arg) c.3442G>C (p.Gly1148Arg) | |
9 | g.123376841G>T | CA374869529 | CRB2 | c.3637G>T (p.Gly1213Cys) c.2641G>T (p.Gly881Cys) n.2751G>T c.3610G>T (p.Gly1204Cys) c.3442G>T (p.Gly1148Cys) | |
9 | g.123376842G>A | CA374869530 | CRB2 | c.3638G>A (p.Gly1213Asp) c.2642G>A (p.Gly881Asp) n.2752G>A c.3611G>A (p.Gly1204Asp) c.3443G>A (p.Gly1148Asp) | |
9 | g.123376842G>C | CA374869531 | CRB2 | c.3638G>C (p.Gly1213Ala) c.2642G>C (p.Gly881Ala) n.2752G>C c.3611G>C (p.Gly1204Ala) c.3443G>C (p.Gly1148Ala) | |
9 | g.123376842G>T | CA374869532 | CRB2 | c.3638G>T (p.Gly1213Val) c.2642G>T (p.Gly881Val) n.2752G>T c.3611G>T (p.Gly1204Val) c.3443G>T (p.Gly1148Val) | |
9 | g.123376843C>A | CA467089721 | CRB2 | c.3639C>A (p.Gly1213=) c.2643C>A (p.Gly881=) n.2753C>A c.3612C>A (p.Gly1204=) c.3444C>A (p.Gly1148=) | gnomAD v4 |
9 | g.123376843C= | CA1877946325 | CRB2 | c.3639C= (p.Gly1213=) c.2643C= (p.Gly881=) n.2753C= c.3612C= (p.Gly1204=) c.3444C= (p.Gly1148=) | |
9 | g.123376843C>G | CA467089723 | CRB2 | c.3639C>G (p.Gly1213=) c.2643C>G (p.Gly881=) n.2753C>G c.3612C>G (p.Gly1204=) c.3444C>G (p.Gly1148=) | |
9 | g.123376843C>T | CA467089725 | CRB2 | c.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 |
9 | g.123376844C>A | CA374869533 | CRB2 | c.3640C>A (p.Leu1214Met) c.2644C>A (p.Leu882Met) n.2754C>A c.3613C>A (p.Leu1205Met) c.3445C>A (p.Leu1149Met) | |
9 | g.123376844C>G | CA374869534 | CRB2 | c.3640C>G (p.Leu1214Val) c.2644C>G (p.Leu882Val) n.2754C>G c.3613C>G (p.Leu1205Val) c.3445C>G (p.Leu1149Val) | |
9 | g.123376844C>T | CA467089729 | CRB2 | c.3640C>T (p.Leu1214=) c.2644C>T (p.Leu882=) n.2754C>T c.3613C>T (p.Leu1205=) c.3445C>T (p.Leu1149=) | gnomAD v4 |
9 | g.123376845T>A | CA374869535 | CRB2 | c.3641T>A (p.Leu1214Gln) c.2645T>A (p.Leu882Gln) n.2755T>A c.3614T>A (p.Leu1205Gln) c.3446T>A (p.Leu1149Gln) | |
9 | g.123376845T>C | CA374869537 | CRB2 | c.3641T>C (p.Leu1214Pro) c.2645T>C (p.Leu882Pro) n.2755T>C c.3614T>C (p.Leu1205Pro) c.3446T>C (p.Leu1149Pro) | |
9 | g.123376845T>G | CA374869536 | CRB2 | c.3641T>G (p.Leu1214Arg) c.2645T>G (p.Leu882Arg) n.2755T>G c.3614T>G (p.Leu1205Arg) c.3446T>G (p.Leu1149Arg) | |
9 | g.123376846G>A | CA5232577 | CRB2 | c.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 |
9 | g.123376846G>C | CA467089741 | CRB2 | c.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 |
9 | g.123376846G= | CA1877946330 | CRB2 | c.3642G= (p.Leu1214=) c.2646G= (p.Leu882=) n.2756G= c.3615G= (p.Leu1205=) c.3447G= (p.Leu1149=) | |
9 | g.123376846G>T | CA467089743 | CRB2 | c.3642G>T (p.Leu1214=) c.2646G>T (p.Leu882=) n.2756G>T c.3615G>T (p.Leu1205=) c.3447G>T (p.Leu1149=) | |
9 | g.123376847C>A | CA374869539 | CRB2 | c.3643C>A (p.Pro1215Thr) c.2647C>A (p.Pro883Thr) n.2757C>A c.3616C>A (p.Pro1206Thr) c.3448C>A (p.Pro1150Thr) | gnomAD v4 |
9 | g.123376847C= | CA1877946334 | CRB2 | c.3643C= (p.Pro1215=) c.2647C= (p.Pro883=) n.2757C= c.3616C= (p.Pro1206=) c.3448C= (p.Pro1150=) | |
9 | g.123376847C>G | CA374869538 | CRB2 | c.3643C>G (p.Pro1215Ala) c.2647C>G (p.Pro883Ala) n.2757C>G c.3616C>G (p.Pro1206Ala) c.3448C>G (p.Pro1150Ala) | |
9 | g.123376847C>T | CA374869540 | CRB2 | c.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 |
9 | g.123376848C>A | CA374869541 | CRB2 | c.3644C>A (p.Pro1215His) c.2648C>A (p.Pro883His) n.2758C>A c.3617C>A (p.Pro1206His) c.3449C>A (p.Pro1150His) | |
9 | g.123376848C= | CA1877946337 | CRB2 | c.3644C= (p.Pro1215=) c.2648C= (p.Pro883=) n.2758C= c.3617C= (p.Pro1206=) c.3449C= (p.Pro1150=) | |
9 | g.123376848C>G | CA374869542 | CRB2 | c.3644C>G (p.Pro1215Arg) c.2648C>G (p.Pro883Arg) n.2758C>G c.3617C>G (p.Pro1206Arg) c.3449C>G (p.Pro1150Arg) | |
9 | g.123376848C>T | CA5232578 | CRB2 | c.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 |
9 | g.123376849C>A | CA467089759 | CRB2 | c.3645C>A (p.Pro1215=) c.2649C>A (p.Pro883=) n.2759C>A c.3618C>A (p.Pro1206=) c.3450C>A (p.Pro1150=) | |
9 | g.123376849C>G | CA467089761 | CRB2 | c.3645C>G (p.Pro1215=) c.2649C>G (p.Pro883=) n.2759C>G c.3618C>G (p.Pro1206=) c.3450C>G (p.Pro1150=) | |
9 | g.123376849C>T | CA467089763 | CRB2 | c.3645C>T (p.Pro1215=) c.2649C>T (p.Pro883=) n.2759C>T c.3618C>T (p.Pro1206=) c.3450C>T (p.Pro1150=) | |
9 | g.123376849_123376855delinsCCTGCCG | CA1877946341 | CRB2 | c.3645_3651delinsCCTGCCG (p.Pro1215=) c.2649_2655delinsCCTGCCG (p.Pro883=) n.2759_2765delinsCCTGCCG c.3618_3624delinsCCTGCCG (p.Pro1206=) c.3450_3456delinsCCTGCCG (p.Pro1150=) | |
9 | g.123376850C>A | CA374869543 | CRB2 | c.3646C>A (p.Leu1216Met) c.2650C>A (p.Leu884Met) n.2760C>A c.3619C>A (p.Leu1207Met) c.3451C>A (p.Leu1151Met) | |
9 | g.123376850C>G | CA374869544 | CRB2 | c.3646C>G (p.Leu1216Val) c.2650C>G (p.Leu884Val) n.2760C>G c.3619C>G (p.Leu1207Val) c.3451C>G (p.Leu1151Val) | |
9 | g.123376850C>T | CA467089769 | CRB2 | c.3646C>T (p.Leu1216=) c.2650C>T (p.Leu884=) n.2760C>T c.3619C>T (p.Leu1207=) c.3451C>T (p.Leu1151=) | |
9 | g.123376855_123376860dup | CA1877946346 | CRB2 | c.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 |
9 | g.123376855_123376860del | CA1128947739 | CRB2 | c.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 |
9 | g.123376851T>A | CA374869545 | CRB2 | c.3647T>A (p.Leu1216Gln) c.2651T>A (p.Leu884Gln) n.2761T>A c.3620T>A (p.Leu1207Gln) c.3452T>A (p.Leu1151Gln) | |
9 | g.123376851T>C | CA374869546 | CRB2 | c.3647T>C (p.Leu1216Pro) c.2651T>C (p.Leu884Pro) n.2761T>C c.3620T>C (p.Leu1207Pro) c.3452T>C (p.Leu1151Pro) | |
9 | g.123376851T>G | CA5232579 | CRB2 | c.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 |
9 | g.123376851T= | CA1877946348 | CRB2 | c.3647T= (p.Leu1216=) c.2651T= (p.Leu884=) n.2761T= c.3620T= (p.Leu1207=) c.3452T= (p.Leu1151=) | |
9 | g.123376852G>A | CA467089779 | CRB2 | c.3648G>A (p.Leu1216=) c.2652G>A (p.Leu884=) n.2762G>A c.3621G>A (p.Leu1207=) c.3453G>A (p.Leu1151=) | gnomAD v4 |
9 | g.123376852G>C | CA467089784 | CRB2 | c.3648G>C (p.Leu1216=) c.2652G>C (p.Leu884=) n.2762G>C c.3621G>C (p.Leu1207=) c.3453G>C (p.Leu1151=) | |
9 | g.123376852G>T | CA467089780 | CRB2 | c.3648G>T (p.Leu1216=) c.2652G>T (p.Leu884=) n.2762G>T c.3621G>T (p.Leu1207=) c.3453G>T (p.Leu1151=) | |
9 | g.123376853C>A | CA374869547 | CRB2 | c.3649C>A (p.Pro1217Thr) c.2653C>A (p.Pro885Thr) n.2763C>A c.3622C>A (p.Pro1208Thr) c.3454C>A (p.Pro1152Thr) | gnomAD v4 |
9 | g.123376853C>G | CA374869548 | CRB2 | c.3649C>G (p.Pro1217Ala) c.2653C>G (p.Pro885Ala) n.2763C>G c.3622C>G (p.Pro1208Ala) c.3454C>G (p.Pro1152Ala) | |
9 | g.123376853C>T | CA374869549 | CRB2 | c.3649C>T (p.Pro1217Ser) c.2653C>T (p.Pro885Ser) n.2763C>T c.3622C>T (p.Pro1208Ser) c.3454C>T (p.Pro1152Ser) | |
9 | g.123376854C>A | CA374869551 | CRB2 | c.3650C>A (p.Pro1217Gln) c.2654C>A (p.Pro885Gln) n.2764C>A c.3623C>A (p.Pro1208Gln) c.3455C>A (p.Pro1152Gln) | gnomAD v4 |
9 | g.123376854C= | CA1877946351 | CRB2 | c.3650C= (p.Pro1217=) c.2654C= (p.Pro885=) n.2764C= c.3623C= (p.Pro1208=) c.3455C= (p.Pro1152=) | |
9 | g.123376854C>G | CA374869550 | CRB2 | c.3650C>G (p.Pro1217Arg) c.2654C>G (p.Pro885Arg) n.2764C>G c.3623C>G (p.Pro1208Arg) c.3455C>G (p.Pro1152Arg) | |
9 | g.123376854C>T | CA5232580 | CRB2 | c.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 |
9 | g.123376855G>A | CA5232581 | CRB2 | c.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 |
9 | g.123376855G>C | CA467089806 | CRB2 | c.3651G>C (p.Pro1217=) c.2655G>C (p.Pro885=) n.2765G>C c.3624G>C (p.Pro1208=) c.3456G>C (p.Pro1152=) | |
9 | g.123376855G= | CA1877946355 | CRB2 | c.3651G= (p.Pro1217=) c.2655G= (p.Pro885=) n.2765G= c.3624G= (p.Pro1208=) c.3456G= (p.Pro1152=) | |
9 | g.123376855G>T | CA467089808 | CRB2 | c.3651G>T (p.Pro1217=) c.2655G>T (p.Pro885=) n.2765G>T c.3624G>T (p.Pro1208=) c.3456G>T (p.Pro1152=) | |
9 | g.123376856C>A | CA374869552 | CRB2 | c.3652C>A (p.Leu1218Met) c.2656C>A (p.Leu886Met) n.2766C>A c.3625C>A (p.Leu1209Met) c.3457C>A (p.Leu1153Met) | |
9 | g.123376856C>G | CA374869553 | CRB2 | c.3652C>G (p.Leu1218Val) c.2656C>G (p.Leu886Val) n.2766C>G c.3625C>G (p.Leu1209Val) c.3457C>G (p.Leu1153Val) | |
9 | g.123376856C>T | CA467089814 | CRB2 | c.3652C>T (p.Leu1218=) c.2656C>T (p.Leu886=) n.2766C>T c.3625C>T (p.Leu1209=) c.3457C>T (p.Leu1153=) | |
9 | g.123376857T>A | CA374869554 | CRB2 | c.3653T>A (p.Leu1218Gln) c.2657T>A (p.Leu886Gln) n.2767T>A c.3626T>A (p.Leu1209Gln) c.3458T>A (p.Leu1153Gln) | |
9 | g.123376857T>C | CA374869555 | CRB2 | c.3653T>C (p.Leu1218Pro) c.2657T>C (p.Leu886Pro) n.2767T>C c.3626T>C (p.Leu1209Pro) c.3458T>C (p.Leu1153Pro) | |
9 | g.123376857T>G | CA374869556 | CRB2 | c.3653T>G (p.Leu1218Arg) c.2657T>G (p.Leu886Arg) n.2767T>G c.3626T>G (p.Leu1209Arg) c.3458T>G (p.Leu1153Arg) | |
9 | g.123376858G>A | CA467089824 | CRB2 | c.3654G>A (p.Leu1218=) c.2658G>A (p.Leu886=) n.2768G>A c.3627G>A (p.Leu1209=) c.3459G>A (p.Leu1153=) | gnomAD v4 |
9 | g.123376858G>C | CA467089826 | CRB2 | c.3654G>C (p.Leu1218=) c.2658G>C (p.Leu886=) n.2768G>C c.3627G>C (p.Leu1209=) c.3459G>C (p.Leu1153=) | |
9 | g.123376858G>T | CA467089829 | CRB2 | c.3654G>T (p.Leu1218=) c.2658G>T (p.Leu886=) n.2768G>T c.3627G>T (p.Leu1209=) c.3459G>T (p.Leu1153=) | |
9 | g.123376859C>A | CA374869557 | CRB2 | c.3655C>A (p.Pro1219Thr) c.2659C>A (p.Pro887Thr) n.2769C>A c.3628C>A (p.Pro1210Thr) c.3460C>A (p.Pro1154Thr) | |
9 | g.123376859C>G | CA374869558 | CRB2 | c.3655C>G (p.Pro1219Ala) c.2659C>G (p.Pro887Ala) n.2769C>G c.3628C>G (p.Pro1210Ala) c.3460C>G (p.Pro1154Ala) | |
9 | g.123376859C>T | CA374869559 | CRB2 | c.3655C>T (p.Pro1219Ser) c.2659C>T (p.Pro887Ser) n.2769C>T c.3628C>T (p.Pro1210Ser) c.3460C>T (p.Pro1154Ser) | |
9 | g.123376860C>A | CA374869560 | CRB2 | c.3656C>A (p.Pro1219Gln) c.2660C>A (p.Pro887Gln) n.2770C>A c.3629C>A (p.Pro1210Gln) c.3461C>A (p.Pro1154Gln) | |
9 | g.123376860C>G | CA374869561 | CRB2 | c.3656C>G (p.Pro1219Arg) c.2660C>G (p.Pro887Arg) n.2770C>G c.3629C>G (p.Pro1210Arg) c.3461C>G (p.Pro1154Arg) | |
9 | g.123376860C>T | CA374869562 | CRB2 | c.3656C>T (p.Pro1219Leu) c.2660C>T (p.Pro887Leu) n.2770C>T c.3629C>T (p.Pro1210Leu) c.3461C>T (p.Pro1154Leu) | |
9 | g.123376861A= | CA1877946359 | CRB2 | c.3657A= (p.Pro1219=) c.2661A= (p.Pro887=) n.2771A= c.3630A= (p.Pro1210=) c.3462A= (p.Pro1154=) | |
9 | g.123376861A>C | CA467089842 | CRB2 | c.3657A>C (p.Pro1219=) c.2661A>C (p.Pro887=) n.2771A>C c.3630A>C (p.Pro1210=) c.3462A>C (p.Pro1154=) | |
9 | g.123376861A>G | CA199643020 | CRB2 | c.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 |
9 | g.123376861A>T | CA467089846 | CRB2 | c.3657A>T (p.Pro1219=) c.2661A>T (p.Pro887=) n.2771A>T c.3630A>T (p.Pro1210=) c.3462A>T (p.Pro1154=) | |
9 | g.123376862T>A | CA374869565 | CRB2 | c.3658T>A (p.Phe1220Ile) c.2662T>A (p.Phe888Ile) n.2772T>A c.3631T>A (p.Phe1211Ile) c.3463T>A (p.Phe1155Ile) | |
9 | g.123376862T>C | CA374869564 | CRB2 | c.3658T>C (p.Phe1220Leu) c.2662T>C (p.Phe888Leu) n.2772T>C c.3631T>C (p.Phe1211Leu) c.3463T>C (p.Phe1155Leu) | |
9 | g.123376862T>G | CA374869563 | CRB2 | c.3658T>G (p.Phe1220Val) c.2662T>G (p.Phe888Val) n.2772T>G c.3631T>G (p.Phe1211Val) c.3463T>G (p.Phe1155Val) | gnomAD v4 |
9 | g.123376863T>A | CA374869566 | CRB2 | c.3659T>A (p.Phe1220Tyr) c.2663T>A (p.Phe888Tyr) n.2773T>A c.3632T>A (p.Phe1211Tyr) c.3464T>A (p.Phe1155Tyr) | |
9 | g.123376863T>C | CA374869567 | CRB2 | c.3659T>C (p.Phe1220Ser) c.2663T>C (p.Phe888Ser) n.2773T>C c.3632T>C (p.Phe1211Ser) c.3464T>C (p.Phe1155Ser) | |
9 | g.123376863T>G | CA374869568 | CRB2 | c.3659T>G (p.Phe1220Cys) c.2663T>G (p.Phe888Cys) n.2773T>G c.3632T>G (p.Phe1211Cys) c.3464T>G (p.Phe1155Cys) | |
9 | g.123376864C>A | CA374869569 | CRB2 | c.3660C>A (p.Phe1220Leu) c.2664C>A (p.Phe888Leu) n.2774C>A c.3633C>A (p.Phe1211Leu) c.3465C>A (p.Phe1155Leu) | |
9 | g.123376864C= | CA1877946362 | CRB2 | c.3660C= (p.Phe1220=) c.2664C= (p.Phe888=) n.2774C= c.3633C= (p.Phe1211=) c.3465C= (p.Phe1155=) | |
9 | g.123376864C>G | CA374869570 | CRB2 | c.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 |
9 | g.123376864C>T | CA467089859 | CRB2 | c.3660C>T (p.Phe1220=) c.2664C>T (p.Phe888=) n.2774C>T c.3633C>T (p.Phe1211=) c.3465C>T (p.Phe1155=) | |
9 | g.123376865C>A | CA374869571 | CRB2 | c.3661C>A (p.Pro1221Thr) c.2665C>A (p.Pro889Thr) n.2775C>A c.3634C>A (p.Pro1212Thr) c.3466C>A (p.Pro1156Thr) | gnomAD v4 |
9 | g.123376865C>G | CA374869572 | CRB2 | c.3661C>G (p.Pro1221Ala) c.2665C>G (p.Pro889Ala) n.2775C>G c.3634C>G (p.Pro1212Ala) c.3466C>G (p.Pro1156Ala) | |
9 | g.123376865C>T | CA374869573 | CRB2 | c.3661C>T (p.Pro1221Ser) c.2665C>T (p.Pro889Ser) n.2775C>T c.3634C>T (p.Pro1212Ser) c.3466C>T (p.Pro1156Ser) | |
9 | g.123376866C>A | CA374869574 | CRB2 | c.3662C>A (p.Pro1221Gln) c.2666C>A (p.Pro889Gln) n.2776C>A c.3635C>A (p.Pro1212Gln) c.3467C>A (p.Pro1156Gln) | gnomAD v4 |
9 | g.123376866C= | CA1877946369 | CRB2 | c.3662C= (p.Pro1221=) c.2666C= (p.Pro889=) n.2776C= c.3635C= (p.Pro1212=) c.3467C= (p.Pro1156=) | |
9 | g.123376866C>G | CA374869575 | CRB2 | c.3662C>G (p.Pro1221Arg) c.2666C>G (p.Pro889Arg) n.2776C>G c.3635C>G (p.Pro1212Arg) c.3467C>G (p.Pro1156Arg) | gnomAD v4 |
9 | g.123376866C>T | CA5232582 | CRB2 | c.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 |
9 | g.123376867A>C | CA467089872 | CRB2 | c.3663A>C (p.Pro1221=) c.2667A>C (p.Pro889=) n.2777A>C c.3636A>C (p.Pro1212=) c.3468A>C (p.Pro1156=) | gnomAD v4 |
9 | g.123376867A>G | CA467089874 | CRB2 | c.3663A>G (p.Pro1221=) c.2667A>G (p.Pro889=) n.2777A>G c.3636A>G (p.Pro1212=) c.3468A>G (p.Pro1156=) | |
9 | g.123376867A>T | CA467089876 | CRB2 | c.3663A>T (p.Pro1221=) c.2667A>T (p.Pro889=) n.2777A>T c.3636A>T (p.Pro1212=) c.3468A>T (p.Pro1156=) | |
9 | g.123376868C>A | CA374869576 | CRB2 | c.3664C>A (p.Leu1222Met) c.2668C>A (p.Leu890Met) n.2778C>A c.3637C>A (p.Leu1213Met) c.3469C>A (p.Leu1157Met) | gnomAD v4 |
9 | g.123376868C= | CA1877946372 | CRB2 | c.3664C= (p.Leu1222=) c.2668C= (p.Leu890=) n.2778C= c.3637C= (p.Leu1213=) c.3469C= (p.Leu1157=) | |
9 | g.123376868C>G | CA374869577 | CRB2 | c.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 |
9 | g.123376868C>T | CA467089881 | CRB2 | c.3664C>T (p.Leu1222=) c.2668C>T (p.Leu890=) n.2778C>T c.3637C>T (p.Leu1213=) c.3469C>T (p.Leu1157=) | |
9 | g.123376869T>A | CA374869578 | CRB2 | c.3665T>A (p.Leu1222Gln) c.2669T>A (p.Leu890Gln) n.2779T>A c.3638T>A (p.Leu1213Gln) c.3470T>A (p.Leu1157Gln) | |
9 | g.123376869T>C | CA5232583 | CRB2 | c.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 |
9 | g.123376869T>G | CA374869579 | CRB2 | c.3665T>G (p.Leu1222Arg) c.2669T>G (p.Leu890Arg) n.2779T>G c.3638T>G (p.Leu1213Arg) c.3470T>G (p.Leu1157Arg) | |
9 | g.123376869T= | CA1877946375 | CRB2 | c.3665T= (p.Leu1222=) c.2669T= (p.Leu890=) n.2779T= c.3638T= (p.Leu1213=) c.3470T= (p.Leu1157=) | |
9 | g.123376870G>A | CA467089893 | CRB2 | c.3666G>A (p.Leu1222=) c.2670G>A (p.Leu890=) n.2780G>A c.3639G>A (p.Leu1213=) c.3471G>A (p.Leu1157=) | gnomAD v4 |
9 | g.123376870G>C | CA467089895 | CRB2 | c.3666G>C (p.Leu1222=) c.2670G>C (p.Leu890=) n.2780G>C c.3639G>C (p.Leu1213=) c.3471G>C (p.Leu1157=) | |
9 | g.123376870G>T | CA467089898 | CRB2 | c.3666G>T (p.Leu1222=) c.2670G>T (p.Leu890=) n.2780G>T c.3639G>T (p.Leu1213=) c.3471G>T (p.Leu1157=) | gnomAD v4 |
9 | g.123376871C>A | CA374869580 | CRB2 | c.3667C>A (p.Leu1223Met) c.2671C>A (p.Leu891Met) n.2781C>A c.3640C>A (p.Leu1214Met) c.3472C>A (p.Leu1158Met) | gnomAD v4 |
9 | g.123376871C>G | CA374869581 | CRB2 | c.3667C>G (p.Leu1223Val) c.2671C>G (p.Leu891Val) n.2781C>G c.3640C>G (p.Leu1214Val) c.3472C>G (p.Leu1158Val) | |
9 | g.123376871C>T | CA467089905 | CRB2 | c.3667C>T (p.Leu1223=) c.2671C>T (p.Leu891=) n.2781C>T c.3640C>T (p.Leu1214=) c.3472C>T (p.Leu1158=) | gnomAD v4 |
9 | g.123376872T>A | CA374869582 | CRB2 | c.3668T>A (p.Leu1223Gln) c.2672T>A (p.Leu891Gln) n.2782T>A c.3641T>A (p.Leu1214Gln) c.3473T>A (p.Leu1158Gln) | |
9 | g.123376872T>C | CA374869583 | CRB2 | c.3668T>C (p.Leu1223Pro) c.2672T>C (p.Leu891Pro) n.2782T>C c.3641T>C (p.Leu1214Pro) c.3473T>C (p.Leu1158Pro) | |
9 | g.123376872T>G | CA374869584 | CRB2 | c.3668T>G (p.Leu1223Arg) c.2672T>G (p.Leu891Arg) n.2782T>G c.3641T>G (p.Leu1214Arg) c.3473T>G (p.Leu1158Arg) | |
9 | g.123376873G>A | CA467089920 | CRB2 | c.3669G>A (p.Leu1223=) c.2673G>A (p.Leu891=) n.2783G>A c.3642G>A (p.Leu1214=) c.3474G>A (p.Leu1158=) | |
9 | g.123376873G>C | CA467089918 | CRB2 | c.3669G>C (p.Leu1223=) c.2673G>C (p.Leu891=) n.2783G>C c.3642G>C (p.Leu1214=) c.3474G>C (p.Leu1158=) | |
9 | g.123376873G>T | CA467089915 | CRB2 | c.3669G>T (p.Leu1223=) c.2673G>T (p.Leu891=) n.2783G>T c.3642G>T (p.Leu1214=) c.3474G>T (p.Leu1158=) | |
9 | g.123376874G>A | CA374869585 | CRB2 | c.3670G>A (p.Glu1224Lys) c.2674G>A (p.Glu892Lys) n.2784G>A c.3643G>A (p.Glu1215Lys) c.3475G>A (p.Glu1159Lys) | |
9 | g.123376874G>C | CA374869586 | CRB2 | c.3670G>C (p.Glu1224Gln) c.2674G>C (p.Glu892Gln) n.2784G>C c.3643G>C (p.Glu1215Gln) c.3475G>C (p.Glu1159Gln) | gnomAD v4 |
9 | g.123376874G= | CA1877946379 | CRB2 | c.3670G= (p.Glu1224=) c.2674G= (p.Glu892=) n.2784G= c.3643G= (p.Glu1215=) c.3475G= (p.Glu1159=) | |
9 | g.123376874G>T | CA374869587 | CRB2 | c.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 |
9 | g.123376875A= | CA1877946382 | CRB2 | c.3671A= (p.Glu1224=) c.2675A= (p.Glu892=) n.2785A= c.3644A= (p.Glu1215=) c.3476A= (p.Glu1159=) | |
9 | g.123376875A>C | CA374869588 | CRB2 | c.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 |
9 | g.123376875A>G | CA374869589 | CRB2 | c.3671A>G (p.Glu1224Gly) c.2675A>G (p.Glu892Gly) n.2785A>G c.3644A>G (p.Glu1215Gly) c.3476A>G (p.Glu1159Gly) | dbSNP |
9 | g.123376875A>T | CA374869590 | CRB2 | c.3671A>T (p.Glu1224Val) c.2675A>T (p.Glu892Val) n.2785A>T c.3644A>T (p.Glu1215Val) c.3476A>T (p.Glu1159Val) | |
9 | g.123376876G>A | CA467089939 | CRB2 | c.3672G>A (p.Glu1224=) c.2676G>A (p.Glu892=) n.2786G>A c.3645G>A (p.Glu1215=) c.3477G>A (p.Glu1159=) | dbSNP |
9 | g.123376876G>C | CA374869592 | CRB2 | c.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 |
9 | g.123376876G= | CA1877946385 | CRB2 | c.3672G= (p.Glu1224=) c.2676G= (p.Glu892=) n.2786G= c.3645G= (p.Glu1215=) c.3477G= (p.Glu1159=) | |
9 | g.123376876G>T | CA374869591 | CRB2 | c.3672G>T (p.Glu1224Asp) c.2676G>T (p.Glu892Asp) n.2786G>T c.3645G>T (p.Glu1215Asp) c.3477G>T (p.Glu1159Asp) | |
9 | g.123376877G>A | CA374869593 | CRB2 | c.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 |
9 | g.123376877G>C | CA374869595 | CRB2 | c.3673G>C (p.Val1225Leu) c.2677G>C (p.Val893Leu) n.2787G>C c.3646G>C (p.Val1216Leu) c.3478G>C (p.Val1160Leu) | |
9 | g.123376877G= | CA1877946389 | CRB2 | c.3673G= (p.Val1225=) c.2677G= (p.Val893=) n.2787G= c.3646G= (p.Val1216=) c.3478G= (p.Val1160=) | |
9 | g.123376877G>T | CA374869594 | CRB2 | c.3673G>T (p.Val1225Leu) c.2677G>T (p.Val893Leu) n.2787G>T c.3646G>T (p.Val1216Leu) c.3478G>T (p.Val1160Leu) | |
9 | g.123376878T>A | CA374869596 | CRB2 | c.3674T>A (p.Val1225Glu) c.2678T>A (p.Val893Glu) n.2788T>A c.3647T>A (p.Val1216Glu) c.3479T>A (p.Val1160Glu) | |
9 | g.123376878T>C | CA374869597 | CRB2 | c.3674T>C (p.Val1225Ala) c.2678T>C (p.Val893Ala) n.2788T>C c.3647T>C (p.Val1216Ala) c.3479T>C (p.Val1160Ala) | |
9 | g.123376878T>G | CA374869598 | CRB2 | c.3674T>G (p.Val1225Gly) c.2678T>G (p.Val893Gly) n.2788T>G c.3647T>G (p.Val1216Gly) c.3479T>G (p.Val1160Gly) | dbSNP |
9 | g.123376878T= | CA1877946393 | CRB2 | c.3674T= (p.Val1225=) c.2678T= (p.Val893=) n.2788T= c.3647T= (p.Val1216=) c.3479T= (p.Val1160=) | |
9 | g.123376879G>A | CA467089971 | CRB2 | c.3675G>A (p.Val1225=) c.2679G>A (p.Val893=) n.2789G>A c.3648G>A (p.Val1216=) c.3480G>A (p.Val1160=) | gnomAD v4 |
9 | g.123376879G>C | CA467089976 | CRB2 | c.3675G>C (p.Val1225=) c.2679G>C (p.Val893=) n.2789G>C c.3648G>C (p.Val1216=) c.3480G>C (p.Val1160=) | |
9 | g.123376879G>T | CA467089973 | CRB2 | c.3675G>T (p.Val1225=) c.2679G>T (p.Val893=) n.2789G>T c.3648G>T (p.Val1216=) c.3480G>T (p.Val1160=) | gnomAD v4 |
9 | g.123376880G>A | CA374869599 | CRB2 | c.3676G>A (p.Ala1226Thr) c.2680G>A (p.Ala894Thr) n.2790G>A c.3649G>A (p.Ala1217Thr) c.3481G>A (p.Ala1161Thr) | gnomAD v4 |
9 | g.123376880G>C | CA374869600 | CRB2 | c.3676G>C (p.Ala1226Pro) c.2680G>C (p.Ala894Pro) n.2790G>C c.3649G>C (p.Ala1217Pro) c.3481G>C (p.Ala1161Pro) | |
9 | g.123376880G>T | CA374869601 | CRB2 | c.3676G>T (p.Ala1226Ser) c.2680G>T (p.Ala894Ser) n.2790G>T c.3649G>T (p.Ala1217Ser) c.3481G>T (p.Ala1161Ser) | |
9 | g.123376881C>A | CA374869602 | CRB2 | c.3677C>A (p.Ala1226Asp) c.2681C>A (p.Ala894Asp) n.2791C>A c.3650C>A (p.Ala1217Asp) c.3482C>A (p.Ala1161Asp) | gnomAD v4 |
9 | g.123376881C= | CA1877946396 | CRB2 | c.3677C= (p.Ala1226=) c.2681C= (p.Ala894=) n.2791C= c.3650C= (p.Ala1217=) c.3482C= (p.Ala1161=) | |
9 | g.123376881C>G | CA374869603 | CRB2 | c.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 |
9 | g.123376881C>T | CA374869604 | CRB2 | c.3677C>T (p.Ala1226Val) c.2681C>T (p.Ala894Val) n.2791C>T c.3650C>T (p.Ala1217Val) c.3482C>T (p.Ala1161Val) | gnomAD v4 |
9 | g.123376882C>A | CA467089992 | CRB2 | c.3678C>A (p.Ala1226=) c.2682C>A (p.Ala894=) n.2792C>A c.3651C>A (p.Ala1217=) c.3483C>A (p.Ala1161=) | gnomAD v4 |
9 | g.123376882C= | CA1877946407 | CRB2 | c.3678C= (p.Ala1226=) c.2682C= (p.Ala894=) n.2792C= c.3651C= (p.Ala1217=) c.3483C= (p.Ala1161=) | |
9 | g.123376882C>G | CA5232585 | CRB2 | c.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 |
9 | g.123376882C>T | CA5232584 | CRB2 | c.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 |
9 | g.123376883G>A | CA5232586 | CRB2 | c.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 |
9 | g.123376883G>C | CA374869606 | CRB2 | c.3679G>C (p.Val1227Leu) c.2683G>C (p.Val895Leu) n.2793G>C c.3652G>C (p.Val1218Leu) c.3484G>C (p.Val1162Leu) | |
9 | g.123376883G= | CA1877946411 | CRB2 | c.3679G= (p.Val1227=) c.2683G= (p.Val895=) n.2793G= c.3652G= (p.Val1218=) c.3484G= (p.Val1162=) | |
9 | g.123376883G>T | CA374869605 | CRB2 | c.3679G>T (p.Val1227Leu) c.2683G>T (p.Val895Leu) n.2793G>T c.3652G>T (p.Val1218Leu) c.3484G>T (p.Val1162Leu) | |
9 | g.123376885_123376897del | CA2691592047 | CRB2 | c.3681_3693del (p.Ala1230SerfsTer?) c.2685_2697del (p.Ala898SerfsTer?) n.2795_2807del c.3654_3666del (p.Ala1221SerfsTer?) c.3486_3498del (p.Ala1165SerfsTer?) | gnomAD v4 |
9 | g.123376884T>A | CA374869607 | CRB2 | c.3680T>A (p.Val1227Glu) c.2684T>A (p.Val895Glu) n.2794T>A c.3653T>A (p.Val1218Glu) c.3485T>A (p.Val1162Glu) | |
9 | g.123376884T>C | CA374869608 | CRB2 | c.3680T>C (p.Val1227Ala) c.2684T>C (p.Val895Ala) n.2794T>C c.3653T>C (p.Val1218Ala) c.3485T>C (p.Val1162Ala) | |
9 | g.123376884T>G | CA374869609 | CRB2 | c.3680T>G (p.Val1227Gly) c.2684T>G (p.Val895Gly) n.2794T>G c.3653T>G (p.Val1218Gly) c.3485T>G (p.Val1162Gly) | |
9 | g.123376885A= | CA1877946416 | CRB2 | c.3681A= (p.Val1227=) c.2685A= (p.Val895=) n.2795A= c.3654A= (p.Val1218=) c.3486A= (p.Val1162=) | |
9 | g.123376885A>C | CA467090006 | CRB2 | c.3681A>C (p.Val1227=) c.2685A>C (p.Val895=) n.2795A>C c.3654A>C (p.Val1218=) c.3486A>C (p.Val1162=) | dbSNP |
9 | g.123376885A>G | CA467090008 | CRB2 | c.3681A>G (p.Val1227=) c.2685A>G (p.Val895=) n.2795A>G c.3654A>G (p.Val1218=) c.3486A>G (p.Val1162=) | gnomAD v4 |
9 | g.123376885A>T | CA467090011 | CRB2 | c.3681A>T (p.Val1227=) c.2685A>T (p.Val895=) n.2795A>T c.3654A>T (p.Val1218=) c.3486A>T (p.Val1162=) | |
9 | g.123376886C>A | CA5232587 | CRB2 | c.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 |
9 | g.123376886C= | CA1877946418 | CRB2 | c.3682C= (p.Pro1228=) c.2686C= (p.Pro896=) n.2796C= c.3655C= (p.Pro1219=) c.3487C= (p.Pro1163=) | |
9 | g.123376886C>G | CA374869610 | CRB2 | c.3682C>G (p.Pro1228Ala) c.2686C>G (p.Pro896Ala) n.2796C>G c.3655C>G (p.Pro1219Ala) c.3487C>G (p.Pro1163Ala) | |
9 | g.123376886C>T | CA374869611 | CRB2 | c.3682C>T (p.Pro1228Ser) c.2686C>T (p.Pro896Ser) n.2796C>T c.3655C>T (p.Pro1219Ser) c.3487C>T (p.Pro1163Ser) | |
9 | g.123376887C>A | CA374869612 | CRB2 | c.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 |
9 | g.123376887C= | CA1877946421 | CRB2 | c.3683C= (p.Pro1228=) c.2687C= (p.Pro896=) n.2797C= c.3656C= (p.Pro1219=) c.3488C= (p.Pro1163=) | |
9 | g.123376887C>G | CA374869613 | CRB2 | c.3683C>G (p.Pro1228Arg) c.2687C>G (p.Pro896Arg) n.2797C>G c.3656C>G (p.Pro1219Arg) c.3488C>G (p.Pro1163Arg) | |
9 | g.123376887C>T | CA374869614 | CRB2 | c.3683C>T (p.Pro1228Leu) c.2687C>T (p.Pro896Leu) n.2797C>T c.3656C>T (p.Pro1219Leu) c.3488C>T (p.Pro1163Leu) | |
9 | g.123376888T>A | CA467090025 | CRB2 | c.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 |
9 | g.123376888T>C | CA467090027 | CRB2 | c.3684T>C (p.Pro1228=) c.2688T>C (p.Pro896=) n.2798T>C c.3657T>C (p.Pro1219=) c.3489T>C (p.Pro1163=) | |
9 | g.123376888T>G | CA467090029 | CRB2 | c.3684T>G (p.Pro1228=) c.2688T>G (p.Pro896=) n.2798T>G c.3657T>G (p.Pro1219=) c.3489T>G (p.Pro1163=) | |
9 | g.123376888T= | CA1877946426 | CRB2 | c.3684T= (p.Pro1228=) c.2688T= (p.Pro896=) n.2798T= c.3657T= (p.Pro1219=) c.3489T= (p.Pro1163=) | |
9 | g.123376889G>A | CA374869615 | CRB2 | c.3685G>A (p.Ala1229Thr) c.2689G>A (p.Ala897Thr) n.2799G>A c.3658G>A (p.Ala1220Thr) c.3490G>A (p.Ala1164Thr) | gnomAD v4 |
9 | g.123376889G>C | CA374869616 | CRB2 | c.3685G>C (p.Ala1229Pro) c.2689G>C (p.Ala897Pro) n.2799G>C c.3658G>C (p.Ala1220Pro) c.3490G>C (p.Ala1164Pro) | |
9 | g.123376889G>T | CA374869617 | CRB2 | c.3685G>T (p.Ala1229Ser) c.2689G>T (p.Ala897Ser) n.2799G>T c.3658G>T (p.Ala1220Ser) c.3490G>T (p.Ala1164Ser) | |
9 | g.123376890C>A | CA374869618 | CRB2 | c.3686C>A (p.Ala1229Glu) c.2690C>A (p.Ala897Glu) n.2800C>A c.3659C>A (p.Ala1220Glu) c.3491C>A (p.Ala1164Glu) | |
9 | g.123376890C= | CA1877946432 | CRB2 | c.3686C= (p.Ala1229=) c.2690C= (p.Ala897=) n.2800C= c.3659C= (p.Ala1220=) c.3491C= (p.Ala1164=) | |
9 | g.123376890C>G | CA199643034 | CRB2 | c.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 |
9 | g.123376890C>T | CA199643037 | CRB2 | c.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 |
9 | g.123376891A>C | CA467090044 | CRB2 | c.3687A>C (p.Ala1229=) c.2691A>C (p.Ala897=) n.2801A>C c.3660A>C (p.Ala1220=) c.3492A>C (p.Ala1164=) | |
9 | g.123376891A>G | CA467090046 | CRB2 | c.3687A>G (p.Ala1229=) c.2691A>G (p.Ala897=) n.2801A>G c.3660A>G (p.Ala1220=) c.3492A>G (p.Ala1164=) | |
9 | g.123376891A>T | CA467090048 | CRB2 | c.3687A>T (p.Ala1229=) c.2691A>T (p.Ala897=) n.2801A>T c.3660A>T (p.Ala1220=) c.3492A>T (p.Ala1164=) | |
9 | g.123376892G>A | CA374869619 | CRB2 | c.3688G>A (p.Ala1230Thr) c.2692G>A (p.Ala898Thr) n.2802G>A c.3661G>A (p.Ala1221Thr) c.3493G>A (p.Ala1165Thr) | |
9 | g.123376892G>C | CA374869620 | CRB2 | c.3688G>C (p.Ala1230Pro) c.2692G>C (p.Ala898Pro) n.2802G>C c.3661G>C (p.Ala1221Pro) c.3493G>C (p.Ala1165Pro) | |
9 | g.123376892G>T | CA374869621 | CRB2 | c.3688G>T (p.Ala1230Ser) c.2692G>T (p.Ala898Ser) n.2802G>T c.3661G>T (p.Ala1221Ser) c.3493G>T (p.Ala1165Ser) | gnomAD v4 |
9 | g.123376893C>A | CA374869622 | CRB2 | c.3689C>A (p.Ala1230Asp) c.2693C>A (p.Ala898Asp) n.2803C>A c.3662C>A (p.Ala1221Asp) c.3494C>A (p.Ala1165Asp) | |
9 | g.123376893C>G | CA374869623 | CRB2 | c.3689C>G (p.Ala1230Gly) c.2693C>G (p.Ala898Gly) n.2803C>G c.3662C>G (p.Ala1221Gly) c.3494C>G (p.Ala1165Gly) | |
9 | g.123376893C>T | CA374869624 | CRB2 | c.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 |
9 | g.123376894C>A | CA467090063 | CRB2 | c.3690C>A (p.Ala1230=) c.2694C>A (p.Ala898=) n.2804C>A c.3663C>A (p.Ala1221=) c.3495C>A (p.Ala1165=) | |
9 | g.123376894C>G | CA467090064 | CRB2 | c.3690C>G (p.Ala1230=) c.2694C>G (p.Ala898=) n.2804C>G c.3663C>G (p.Ala1221=) c.3495C>G (p.Ala1165=) | |
9 | g.123376894C>T | CA467090067 | CRB2 | c.3690C>T (p.Ala1230=) c.2694C>T (p.Ala898=) n.2804C>T c.3663C>T (p.Ala1221=) c.3495C>T (p.Ala1165=) | |
9 | g.123376895T>A | CA374869626 | CRB2 | c.3691T>A (p.Cys1231Ser) c.2695T>A (p.Cys899Ser) n.2805T>A c.3664T>A (p.Cys1222Ser) c.3496T>A (p.Cys1166Ser) | |
9 | g.123376895T>C | CA374869625 | CRB2 | c.3691T>C (p.Cys1231Arg) c.2695T>C (p.Cys899Arg) n.2805T>C c.3664T>C (p.Cys1222Arg) c.3496T>C (p.Cys1166Arg) | |
9 | g.123376895T>G | CA199643040 | CRB2 | c.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 |
9 | g.123376895T= | CA1877946438 | CRB2 | c.3691T= (p.Cys1231=) c.2695T= (p.Cys899=) n.2805T= c.3664T= (p.Cys1222=) c.3496T= (p.Cys1166=) | |
9 | g.123376896G>A | CA5232588 | CRB2 | c.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 |
9 | g.123376896G>C | CA374869627 | CRB2 | c.3692G>C (p.Cys1231Ser) c.2696G>C (p.Cys899Ser) n.2806G>C c.3665G>C (p.Cys1222Ser) c.3497G>C (p.Cys1166Ser) | |
9 | g.123376896G= | CA1877946441 | CRB2 | c.3692G= (p.Cys1231=) c.2696G= (p.Cys899=) n.2806G= c.3665G= (p.Cys1222=) c.3497G= (p.Cys1166=) | |
9 | g.123376896G>T | CA374869628 | CRB2 | c.3692G>T (p.Cys1231Phe) c.2696G>T (p.Cys899Phe) n.2806G>T c.3665G>T (p.Cys1222Phe) c.3497G>T (p.Cys1166Phe) | |
9 | g.123376897T>A | CA374869629 | CRB2 | c.3693T>A (p.Cys1231Ter) c.2697T>A (p.Cys899Ter) n.2807T>A c.3666T>A (p.Cys1222Ter) c.3498T>A (p.Cys1166Ter) | |
9 | g.123376897T>C | CA467090082 | CRB2 | c.3693T>C (p.Cys1231=) c.2697T>C (p.Cys899=) n.2807T>C c.3666T>C (p.Cys1222=) c.3498T>C (p.Cys1166=) | |
9 | g.123376897T>G | CA374869630 | CRB2 | c.3693T>G (p.Cys1231Trp) c.2697T>G (p.Cys899Trp) n.2807T>G c.3666T>G (p.Cys1222Trp) c.3498T>G (p.Cys1166Trp) | |
9 | g.123376898G>A | CA374869631 | CRB2 | c.3694G>A (p.Ala1232Thr) c.2698G>A (p.Ala900Thr) n.2808G>A c.3667G>A (p.Ala1223Thr) c.3499G>A (p.Ala1167Thr) | |
9 | g.123376898G>C | CA374869633 | CRB2 | c.3694G>C (p.Ala1232Pro) c.2698G>C (p.Ala900Pro) n.2808G>C c.3667G>C (p.Ala1223Pro) c.3499G>C (p.Ala1167Pro) | |
9 | g.123376898G>T | CA374869632 | CRB2 | c.3694G>T (p.Ala1232Ser) c.2698G>T (p.Ala900Ser) n.2808G>T c.3667G>T (p.Ala1223Ser) c.3499G>T (p.Ala1167Ser) | gnomAD v4 |
9 | g.123376899C>A | CA374869634 | CRB2 | c.3695C>A (p.Ala1232Asp) c.2699C>A (p.Ala900Asp) n.2809C>A c.3668C>A (p.Ala1223Asp) c.3500C>A (p.Ala1167Asp) | gnomAD v4 |
9 | g.123376899C>G | CA374869635 | CRB2 | c.3695C>G (p.Ala1232Gly) c.2699C>G (p.Ala900Gly) n.2809C>G c.3668C>G (p.Ala1223Gly) c.3500C>G (p.Ala1167Gly) | |
9 | g.123376899C>T | CA374869636 | CRB2 | c.3695C>T (p.Ala1232Val) c.2699C>T (p.Ala900Val) n.2809C>T c.3668C>T (p.Ala1223Val) c.3500C>T (p.Ala1167Val) | gnomAD v4 |
9 | g.123376900C>A | CA467090102 | CRB2 | c.3696C>A (p.Ala1232=) c.2700C>A (p.Ala900=) n.2810C>A c.3669C>A (p.Ala1223=) c.3501C>A (p.Ala1167=) | gnomAD v4 |
9 | g.123376900C>G | CA467090100 | CRB2 | c.3696C>G (p.Ala1232=) c.2700C>G (p.Ala900=) n.2810C>G c.3669C>G (p.Ala1223=) c.3501C>G (p.Ala1167=) | |
9 | g.123376900C>T | CA467090099 | CRB2 | c.3696C>T (p.Ala1232=) c.2700C>T (p.Ala900=) n.2810C>T c.3669C>T (p.Ala1223=) c.3501C>T (p.Ala1167=) | |
9 | g.123376901T>A | CA374869637 | CRB2 | c.3697T>A (p.Cys1233Ser) c.2701T>A (p.Cys901Ser) n.2811T>A c.3670T>A (p.Cys1224Ser) c.3502T>A (p.Cys1168Ser) | |
9 | g.123376901T>C | CA374869638 | CRB2 | c.3697T>C (p.Cys1233Arg) c.2701T>C (p.Cys901Arg) n.2811T>C c.3670T>C (p.Cys1224Arg) c.3502T>C (p.Cys1168Arg) | |
9 | g.123376901T>G | CA374869639 | CRB2 | c.3697T>G (p.Cys1233Gly) c.2701T>G (p.Cys901Gly) n.2811T>G c.3670T>G (p.Cys1224Gly) c.3502T>G (p.Cys1168Gly) | |
9 | g.123376901T= | CA1877946450 | CRB2 | c.3697T= (p.Cys1233=) c.2701T= (p.Cys901=) n.2811T= c.3670T= (p.Cys1224=) c.3502T= (p.Cys1168=) | |
9 | g.123376902G>A | CA374869640 | CRB2 | c.3698G>A (p.Cys1233Tyr) c.2702G>A (p.Cys901Tyr) n.2812G>A c.3671G>A (p.Cys1224Tyr) c.3503G>A (p.Cys1168Tyr) | gnomAD v4 |
9 | g.123376902G>C | CA374869641 | CRB2 | c.3698G>C (p.Cys1233Ser) c.2702G>C (p.Cys901Ser) n.2812G>C c.3671G>C (p.Cys1224Ser) c.3503G>C (p.Cys1168Ser) | |
9 | g.123376902G= | CA1877946456 | CRB2 | c.3698G= (p.Cys1233=) c.2702G= (p.Cys901=) n.2812G= c.3671G= (p.Cys1224=) c.3503G= (p.Cys1168=) | |
9 | g.123376902G>T | CA374869642 | CRB2 | c.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 |
9 | g.123376902_123376906delinsGCCTC | CA1877946455 | CRB2 | c.3698_3702delinsGCCTC (p.Cys1233=) c.2702_2706delinsGCCTC (p.Cys901=) n.2812_2816delinsGCCTC c.3671_3675delinsGCCTC (p.Cys1224=) c.3503_3507delinsGCCTC (p.Cys1168=) | |
9 | g.123376902_123376910dup | CA5232589 | CRB2 | c.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 |
9 | g.123376902_123376911delinsGCCTCCTCCT | CA1877946458 | CRB2 | c.3698_3707delinsGCCTCCTCCT (p.Cys1233=) c.2702_2711delinsGCCTCCTCCT (p.Cys901=) n.2812_2821delinsGCCTCCTCCT c.3671_3680delinsGCCTCCTCCT (p.Cys1224=) c.3503_3512delinsGCCTCCTCCT (p.Cys1168=) | |
9 | g.123376903C>A | CA374869643 | CRB2 | c.3699C>A (p.Cys1233Ter) c.2703C>A (p.Cys901Ter) n.2813C>A c.3672C>A (p.Cys1224Ter) c.3504C>A (p.Cys1168Ter) | gnomAD v4 |
9 | g.123376903C>G | CA374869644 | CRB2 | c.3699C>G (p.Cys1233Trp) c.2703C>G (p.Cys901Trp) n.2813C>G c.3672C>G (p.Cys1224Trp) c.3504C>G (p.Cys1168Trp) | |
9 | g.123376903C>T | CA467090166 | CRB2 | c.3699C>T (p.Cys1233=) c.2703C>T (p.Cys901=) n.2813C>T c.3672C>T (p.Cys1224=) c.3504C>T (p.Cys1168=) | |
9 | g.123376904_123376907del | CA891862795 | CRB2 | c.3700_3703del (p.Leu1234SerfsTer?) c.2704_2707del (p.Leu902SerfsTer?) n.2814_2817del c.3673_3676del (p.Leu1225SerfsTer?) c.3505_3508del (p.Leu1169SerfsTer?) | ClinVar dbSNP |
9 | g.123376918_123376920dup | CA5232590 | CRB2 | c.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 |
9 | g.123376915_123376920dup | CA5232592 | CRB2 | c.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 |
9 | g.123376918_123376920del | CA5232591 | CRB2 | c.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 |
9 | g.123376915_123376920del | CA5232593 | CRB2 | c.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 |
9 | g.123376912_123376920del | CA467090158 | CRB2 | c.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 |
9 | g.123376904C>A | CA374869645 | CRB2 | c.3700C>A (p.Leu1234Ile) c.2704C>A (p.Leu902Ile) n.2814C>A c.3673C>A (p.Leu1225Ile) c.3505C>A (p.Leu1169Ile) | gnomAD v4 |
9 | g.123376904C= | CA1877946488 | CRB2 | c.3700C= (p.Leu1234=) c.2704C= (p.Leu902=) n.2814C= c.3673C= (p.Leu1225=) c.3505C= (p.Leu1169=) | |
9 | g.123376904C>G | CA374869647 | CRB2 | c.3700C>G (p.Leu1234Val) c.2704C>G (p.Leu902Val) n.2814C>G c.3673C>G (p.Leu1225Val) c.3505C>G (p.Leu1169Val) | dbSNP |
9 | g.123376904C>T | CA374869646 | CRB2 | c.3700C>T (p.Leu1234Phe) c.2704C>T (p.Leu902Phe) n.2814C>T c.3673C>T (p.Leu1225Phe) c.3505C>T (p.Leu1169Phe) | |
9 | g.123376905T>A | CA374869648 | CRB2 | c.3701T>A (p.Leu1234His) c.2705T>A (p.Leu902His) n.2815T>A c.3674T>A (p.Leu1225His) c.3506T>A (p.Leu1169His) | |
9 | g.123376905T>C | CA374869649 | CRB2 | c.3701T>C (p.Leu1234Pro) c.2705T>C (p.Leu902Pro) n.2815T>C c.3674T>C (p.Leu1225Pro) c.3506T>C (p.Leu1169Pro) | |
9 | g.123376905T>G | CA374869650 | CRB2 | c.3701T>G (p.Leu1234Arg) c.2705T>G (p.Leu902Arg) n.2815T>G c.3674T>G (p.Leu1225Arg) c.3506T>G (p.Leu1169Arg) | |
9 | g.123376906_123376907insTTC | CA2691592048 | CRB2 | c.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 |
9 | g.123376906C>A | CA467090186 | CRB2 | c.3702C>A (p.Leu1234=) c.2706C>A (p.Leu902=) n.2816C>A c.3675C>A (p.Leu1225=) c.3507C>A (p.Leu1169=) | |
9 | g.123376906C= | CA1877946491 | CRB2 | c.3702C= (p.Leu1234=) c.2706C= (p.Leu902=) n.2816C= c.3675C= (p.Leu1225=) c.3507C= (p.Leu1169=) | |
9 | g.123376906C>G | CA5232594 | CRB2 | c.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 |
9 | g.123376906C>T | CA467090189 | CRB2 | c.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 |
9 | g.123376907C>A | CA374869651 | CRB2 | c.3703C>A (p.Leu1235Ile) c.2707C>A (p.Leu903Ile) n.2817C>A c.3676C>A (p.Leu1226Ile) c.3508C>A (p.Leu1170Ile) | |
9 | g.123376907C>G | CA374869652 | CRB2 | c.3703C>G (p.Leu1235Val) c.2707C>G (p.Leu903Val) n.2817C>G c.3676C>G (p.Leu1226Val) c.3508C>G (p.Leu1170Val) | |
9 | g.123376907C>T | CA374869653 | CRB2 | c.3703C>T (p.Leu1235Phe) c.2707C>T (p.Leu903Phe) n.2817C>T c.3676C>T (p.Leu1226Phe) c.3508C>T (p.Leu1170Phe) | gnomAD v4 |
9 | g.123376908T>A | CA374869654 | CRB2 | c.3704T>A (p.Leu1235His) c.2708T>A (p.Leu903His) n.2818T>A c.3677T>A (p.Leu1226His) c.3509T>A (p.Leu1170His) | |
9 | g.123376908T>C | CA374869655 | CRB2 | c.3704T>C (p.Leu1235Pro) c.2708T>C (p.Leu903Pro) n.2818T>C c.3677T>C (p.Leu1226Pro) c.3509T>C (p.Leu1170Pro) | |
9 | g.123376908T>G | CA374869656 | CRB2 | c.3704T>G (p.Leu1235Arg) c.2708T>G (p.Leu903Arg) n.2818T>G c.3677T>G (p.Leu1226Arg) c.3509T>G (p.Leu1170Arg) | |
9 | g.123376908T= | CA1877946494 | CRB2 | c.3704T= (p.Leu1235=) c.2708T= (p.Leu903=) n.2818T= c.3677T= (p.Leu1226=) c.3509T= (p.Leu1170=) |