Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.48457665_48462964del | CA2695199742 | RB1 | c.1960+1316_2107-767del c.194+76222_194+81521del c.1699+1316_1846-767del | ClinVar |
13 | g.48459688_48459833del | CA1139532148 | RB1 | c.1961_2106del (p.Val654AspfsTer18) c.194+78245_194+78390del c.1700_1845del (p.Val567AspfsTer18) | |
13 | g.48459721_48459787del | CA645571615 | RB1 | c.1994_2060del (p.Leu665ProfsTer9) c.194+78278_194+78344del c.1733_1799del (p.Leu578ProfsTer9) | COSMIC |
13 | g.48459745_48459765del | CA2832528992 | RB1 | c.2018_2038del (p.His673_Ile680delinsLeu) c.194+78302_194+78322del c.1757_1777del (p.His586_Ile593delinsLeu) | |
13 | g.48459754_48459761dup | CA645571617 | RB1 | c.2027_2034dup (p.Ile679Ter) c.194+78311_194+78318dup c.1766_1773dup (p.Ile592Ter) | COSMIC |
13 | g.48459753T>A | CA388166790 | RB1 | c.2026T>A (p.Leu676Ile) c.194+78310T>A c.1765T>A (p.Leu589Ile) | |
13 | g.48459753T>C | CA483559016 | RB1 | c.2026T>C (p.Leu676=) c.194+78310T>C c.1765T>C (p.Leu589=) | |
13 | g.48459753T>G | CA388166791 | RB1 | c.2026T>G (p.Leu676Val) c.194+78310T>G c.1765T>G (p.Leu589Val) | ClinVar gnomAD v4 |
13 | g.48459754T>A | CA388166794 | RB1 | c.2027T>A (p.Leu676Ter) c.194+78311T>A c.1766T>A (p.Leu589Ter) | ClinVar dbSNP |
13 | g.48459754T>C | CA388166793 | RB1 | c.2027T>C (p.Leu676Ser) c.194+78311T>C c.1766T>C (p.Leu589Ser) | ClinVar dbSNP |
13 | g.48459754T>G | CA388166792 | RB1 | c.2027T>G (p.Leu676Ter) c.194+78311T>G c.1766T>G (p.Leu589Ter) | ClinVar dbSNP |
13 | g.48459754T= | CA2090008049 | RB1 | c.2027T= (p.Leu676=) c.194+78311T= c.1766T= (p.Leu589=) | |
13 | g.48459755A>C | CA388166795 | RB1 | c.2028A>C (p.Leu676Phe) c.194+78312A>C c.1767A>C (p.Leu589Phe) | |
13 | g.48459755A>G | CA483559017 | RB1 | c.2028A>G (p.Leu676=) c.194+78312A>G c.1767A>G (p.Leu589=) | dbSNP gnomAD v4 |
13 | g.48459755A>T | CA388166796 | RB1 | c.2028A>T (p.Leu676Phe) c.194+78312A>T c.1767A>T (p.Leu589Phe) | dbSNP |
13 | g.48459755_48459767del | CA645571618 | RB1 | c.2028_2040del (p.Leu676PhefsTer16) c.194+78312_194+78324del c.1767_1779del (p.Leu589PhefsTer16) | COSMIC |
13 | g.48459756del | CA2695218638 | RB1 | c.2029del (p.Glu677AsnfsTer19) c.194+78313del c.1768del (p.Glu590AsnfsTer19) | |
13 | g.48459756G>A | CA388166797 | RB1 | c.2029G>A (p.Glu677Lys) c.194+78313G>A c.1768G>A (p.Glu590Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.48459756G>C | CA388166798 | RB1 | c.2029G>C (p.Glu677Gln) c.194+78313G>C c.1768G>C (p.Glu590Gln) | dbSNP |
13 | g.48459756G= | CA2090008059 | RB1 | c.2029G= (p.Glu677=) c.194+78313G= c.1768G= (p.Glu590=) | |
13 | g.48459756G>T | CA16614022 | RB1 | c.2029G>T (p.Glu677Ter) c.194+78313G>T c.1768G>T (p.Glu590Ter) | ClinVar dbSNP COSMIC |
13 | g.48459757A= | CA2090008061 | RB1 | c.2030A= (p.Glu677=) c.194+78314A= c.1769A= (p.Glu590=) | |
13 | g.48459757A>C | CA388166799 | RB1 | c.2030A>C (p.Glu677Ala) c.194+78314A>C c.1769A>C (p.Glu590Ala) | |
13 | g.48459757A>G | CA388166800 | RB1 | c.2030A>G (p.Glu677Gly) c.194+78314A>G c.1769A>G (p.Glu590Gly) | ClinVar dbSNP |
13 | g.48459757A>T | CA388166801 | RB1 | c.2030A>T (p.Glu677Val) c.194+78314A>T c.1769A>T (p.Glu590Val) | dbSNP |
13 | g.48459758dup | CA2695218641 | RB1 | c.2031dup (p.His678ThrfsTer14) c.194+78315dup c.1770dup (p.His591ThrfsTer14) | |
13 | g.48459758del | CA483559018 | RB1 | c.2031del (p.Glu677AspfsTer19) c.194+78315del c.1770del (p.Glu590AspfsTer19) | COSMIC |
13 | g.48459758A>C | CA388166802 | RB1 | c.2031A>C (p.Glu677Asp) c.194+78315A>C c.1770A>C (p.Glu590Asp) | |
13 | g.48459758A>G | CA483559019 | RB1 | c.2031A>G (p.Glu677=) c.194+78315A>G c.1770A>G (p.Glu590=) | |
13 | g.48459758A>T | CA388166803 | RB1 | c.2031A>T (p.Glu677Asp) c.194+78315A>T c.1770A>T (p.Glu590Asp) | dbSNP |
13 | g.48459759C>A | CA388166804 | RB1 | c.2032C>A (p.His678Asn) c.194+78316C>A c.1771C>A (p.His591Asn) | dbSNP |
13 | g.48459759C>G | CA388166805 | RB1 | c.2032C>G (p.His678Asp) c.194+78316C>G c.1771C>G (p.His591Asp) | dbSNP |
13 | g.48459759C>T | CA388166806 | RB1 | c.2032C>T (p.His678Tyr) c.194+78316C>T c.1771C>T (p.His591Tyr) | |
13 | g.48459762_48459766del | CA2695218643 | RB1 | c.2035_2039del (p.Ile679LeufsTer11) c.194+78319_194+78323del c.1774_1778del (p.Ile592LeufsTer11) | |
13 | g.48459760A= | CA2090008066 | RB1 | c.2033A= (p.His678=) c.194+78317A= c.1772A= (p.His591=) | |
13 | g.48459760A>C | CA388166807 | RB1 | c.2033A>C (p.His678Pro) c.194+78317A>C c.1772A>C (p.His591Pro) | |
13 | g.48459760A>G | CA388166808 | RB1 | c.2033A>G (p.His678Arg) c.194+78317A>G c.1772A>G (p.His591Arg) | ClinVar dbSNP gnomAD v4 |
13 | g.48459760A>T | CA033805 | RB1 | c.2033A>T (p.His678Leu) c.194+78317A>T c.1772A>T (p.His591Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48459760_48459763dup | CA1139768307 | RB1 | c.2033_2036dup (p.Ile680TyrfsTer13) c.194+78317_194+78320dup c.1772_1775dup (p.Ile593TyrfsTer13) | |
13 | g.48459761T>A | CA388166809 | RB1 | c.2034T>A (p.His678Gln) c.194+78318T>A c.1773T>A (p.His591Gln) | dbSNP |
13 | g.48459761T>C | CA483559020 | RB1 | c.2034T>C (p.His678=) c.194+78318T>C c.1773T>C (p.His591=) | dbSNP |
13 | g.48459761T>G | CA388166810 | RB1 | c.2034T>G (p.His678Gln) c.194+78318T>G c.1773T>G (p.His591Gln) | |
13 | g.48459761T= | CA2090008071 | RB1 | c.2034T= (p.His678=) c.194+78318T= c.1773T= (p.His591=) | |
13 | g.48459761dup | CA2499222469 | RB1 | c.2034dup (p.Ile679TyrfsTer13) c.194+78318dup c.1773dup (p.Ile592TyrfsTer13) | ClinVar dbSNP |
13 | g.48459762A= | CA2090008079 | RB1 | c.2035A= (p.Ile679=) c.194+78319A= c.1774A= (p.Ile592=) | |
13 | g.48459762A>C | CA388166811 | RB1 | c.2035A>C (p.Ile679Leu) c.194+78319A>C c.1774A>C (p.Ile592Leu) | ClinVar dbSNP |
13 | g.48459762A>G | CA249308179 | RB1 | c.2035A>G (p.Ile679Val) c.194+78319A>G c.1774A>G (p.Ile592Val) | ClinVar dbSNP gnomAD v4 |
13 | g.48459762A>T | CA388166812 | RB1 | c.2035A>T (p.Ile679Phe) c.194+78319A>T c.1774A>T (p.Ile592Phe) | dbSNP |
13 | g.48459762_48459765dup | CA1139663289 | RB1 | c.2035_2038dup (p.Ile680AsnfsTer13) c.194+78319_194+78322dup c.1774_1777dup (p.Ile593AsnfsTer13) | ClinVar dbSNP |
13 | g.48459763del | CA483559021 | RB1 | c.2036del (p.Ile679ThrfsTer17) c.194+78320del c.1775del (p.Ile592ThrfsTer17) | COSMIC COSMIC |
13 | g.48459763T>A | CA388166813 | RB1 | c.2036T>A (p.Ile679Asn) c.194+78320T>A c.1775T>A (p.Ile592Asn) | dbSNP |
13 | g.48459763T>C | CA388166814 | RB1 | c.2036T>C (p.Ile679Thr) c.194+78320T>C c.1775T>C (p.Ile592Thr) | |
13 | g.48459763T>G | CA388166815 | RB1 | c.2036T>G (p.Ile679Ser) c.194+78320T>G c.1775T>G (p.Ile592Ser) | |
13 | g.48459764C>A | CA483559022 | RB1 | c.2037C>A (p.Ile679=) c.194+78321C>A c.1776C>A (p.Ile592=) | dbSNP |
13 | g.48459764C= | CA2090008081 | RB1 | c.2037C= (p.Ile679=) c.194+78321C= c.1776C= (p.Ile592=) | |
13 | g.48459764C>G | CA388166816 | RB1 | c.2037C>G (p.Ile679Met) c.194+78321C>G c.1776C>G (p.Ile592Met) | dbSNP |
13 | g.48459764C>T | CA483559023 | RB1 | c.2037C>T (p.Ile679=) c.194+78321C>T c.1776C>T (p.Ile592=) | ClinVar dbSNP |
13 | g.48459766_48459781dup | CA2695218645 | RB1 | c.2039_2054dup (p.Gln685HisfsTer12) c.194+78323_194+78338dup c.1778_1793dup (p.Gln598HisfsTer12) | |
13 | g.48459765A= | CA2090008082 | RB1 | c.2038A= (p.Ile680=) c.194+78322A= c.1777A= (p.Ile593=) | |
13 | g.48459765A>C | CA388166817 | RB1 | c.2038A>C (p.Ile680Leu) c.194+78322A>C c.1777A>C (p.Ile593Leu) | dbSNP gnomAD v4 |
13 | g.48459765A>G | CA388166818 | RB1 | c.2038A>G (p.Ile680Val) c.194+78322A>G c.1777A>G (p.Ile593Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.48459765A>T | CA388166819 | RB1 | c.2038A>T (p.Ile680Phe) c.194+78322A>T c.1777A>T (p.Ile593Phe) | dbSNP gnomAD v4 |
13 | g.48459766T>A | CA388166820 | RB1 | c.2039T>A (p.Ile680Asn) c.194+78323T>A c.1778T>A (p.Ile593Asn) | |
13 | g.48459766T>C | CA388166821 | RB1 | c.2039T>C (p.Ile680Thr) c.194+78323T>C c.1778T>C (p.Ile593Thr) | ClinVar dbSNP COSMIC |
13 | g.48459766T>G | CA388166822 | RB1 | c.2039T>G (p.Ile680Ser) c.194+78323T>G c.1778T>G (p.Ile593Ser) | |
13 | g.48459766T= | CA2090008089 | RB1 | c.2039T= (p.Ile680=) c.194+78323T= c.1778T= (p.Ile593=) | |
13 | g.48459766dup | CA2831039807 | RB1 | c.2039dup (p.Trp681LeufsTer11) c.194+78323dup c.1778dup (p.Trp594LeufsTer11) | |
13 | g.48459766_48459770dup | CA2695218646 | RB1 | c.2039_2043dup (p.Thr682SerfsTer16) c.194+78323_194+78327dup c.1778_1782dup (p.Thr595SerfsTer16) | |
13 | g.48459767C>A | CA483559025 | RB1 | c.2040C>A (p.Ile680=) c.194+78324C>A c.1779C>A (p.Ile593=) | ClinVar dbSNP |
13 | g.48459767C= | CA2090008092 | RB1 | c.2040C= (p.Ile680=) c.194+78324C= c.1779C= (p.Ile593=) | |
13 | g.48459767C>G | CA388166823 | RB1 | c.2040C>G (p.Ile680Met) c.194+78324C>G c.1779C>G (p.Ile593Met) | dbSNP |
13 | g.48459767C>T | CA483559024 | RB1 | c.2040C>T (p.Ile680=) c.194+78324C>T c.1779C>T (p.Ile593=) | dbSNP |
13 | g.48459768T>A | CA388166825 | RB1 | c.2041T>A (p.Trp681Arg) c.194+78325T>A c.1780T>A (p.Trp594Arg) | |
13 | g.48459768T>C | CA388166824 | RB1 | c.2041T>C (p.Trp681Arg) c.194+78325T>C c.1780T>C (p.Trp594Arg) | |
13 | g.48459768T>G | CA388166826 | RB1 | c.2041T>G (p.Trp681Gly) c.194+78325T>G c.1780T>G (p.Trp594Gly) | |
13 | g.48459769G>A | CA388166827 | RB1 | c.2042G>A (p.Trp681Ter) c.194+78326G>A c.1781G>A (p.Trp594Ter) | ClinVar dbSNP |
13 | g.48459769G>C | CA388166828 | RB1 | c.2042G>C (p.Trp681Ser) c.194+78326G>C c.1781G>C (p.Trp594Ser) | dbSNP |
13 | g.48459769G>T | CA388166829 | RB1 | c.2042G>T (p.Trp681Leu) c.194+78326G>T c.1781G>T (p.Trp594Leu) | |
13 | g.48459770G>A | CA388166830 | RB1 | c.2043G>A (p.Trp681Ter) c.194+78327G>A c.1782G>A (p.Trp594Ter) | ClinVar dbSNP COSMIC COSMIC |
13 | g.48459770G>C | CA388166831 | RB1 | c.2043G>C (p.Trp681Cys) c.194+78327G>C c.1782G>C (p.Trp594Cys) | dbSNP |
13 | g.48459770G>T | CA388166832 | RB1 | c.2043G>T (p.Trp681Cys) c.194+78327G>T c.1782G>T (p.Trp594Cys) | dbSNP COSMIC COSMIC |
13 | g.48459771A>C | CA388166833 | RB1 | c.2044A>C (p.Thr682Pro) c.194+78328A>C c.1783A>C (p.Thr595Pro) | dbSNP |
13 | g.48459771A>G | CA388166834 | RB1 | c.2044A>G (p.Thr682Ala) c.194+78328A>G c.1783A>G (p.Thr595Ala) | dbSNP |
13 | g.48459771A>T | CA388166835 | RB1 | c.2044A>T (p.Thr682Ser) c.194+78328A>T c.1783A>T (p.Thr595Ser) | dbSNP |
13 | g.48459776_48459790del | CA2695218648 | RB1 | c.2049_2063del (p.Phe684_Leu688del) c.194+78333_194+78347del c.1788_1802del (p.Phe597_Leu601del) | |
13 | g.48459772C>A | CA388166836 | RB1 | c.2045C>A (p.Thr682Asn) c.194+78329C>A c.1784C>A (p.Thr595Asn) | dbSNP |
13 | g.48459772C>G | CA388166837 | RB1 | c.2045C>G (p.Thr682Ser) c.194+78329C>G c.1784C>G (p.Thr595Ser) | dbSNP |
13 | g.48459772C>T | CA388166838 | RB1 | c.2045C>T (p.Thr682Ile) c.194+78329C>T c.1784C>T (p.Thr595Ile) | dbSNP |
13 | g.48459774del | CA2580060393 | RB1 | c.2047del (p.Leu683PhefsTer13) c.194+78331del c.1786del (p.Leu596PhefsTer13) | |
13 | g.48459773C>A | CA249308182 | RB1 | c.2046C>A (p.Thr682=) c.194+78330C>A c.1785C>A (p.Thr595=) | dbSNP |
13 | g.48459773C= | CA2090008095 | RB1 | c.2046C= (p.Thr682=) c.194+78330C= c.1785C= (p.Thr595=) | |
13 | g.48459773C>G | CA483559027 | RB1 | c.2046C>G (p.Thr682=) c.194+78330C>G c.1785C>G (p.Thr595=) | ClinVar dbSNP gnomAD v4 |
13 | g.48459773C>T | CA483559026 | RB1 | c.2046C>T (p.Thr682=) c.194+78330C>T c.1785C>T (p.Thr595=) | ClinVar dbSNP |
13 | g.48459773_48459774insA | CA2695218650 | RB1 | c.2046_2047insA (p.Leu683ThrfsTer9) c.194+78330_194+78331insA c.1785_1786insA (p.Leu596ThrfsTer9) | |
13 | g.48459774C>A | CA388166841 | RB1 | c.2047C>A (p.Leu683Ile) c.194+78331C>A c.1786C>A (p.Leu596Ile) | |
13 | g.48459774C>G | CA388166840 | RB1 | c.2047C>G (p.Leu683Val) c.194+78331C>G c.1786C>G (p.Leu596Val) | |
13 | g.48459774C>T | CA388166839 | RB1 | c.2047C>T (p.Leu683Phe) c.194+78331C>T c.1786C>T (p.Leu596Phe) | |
13 | g.48459775T>A | CA388166842 | RB1 | c.2048T>A (p.Leu683His) c.194+78332T>A c.1787T>A (p.Leu596His) | |
13 | g.48459775T>C | CA388166843 | RB1 | c.2048T>C (p.Leu683Pro) c.194+78332T>C c.1787T>C (p.Leu596Pro) | |
13 | g.48459775T>G | CA388166844 | RB1 | c.2048T>G (p.Leu683Arg) c.194+78332T>G c.1787T>G (p.Leu596Arg) | |
13 | g.48459778del | CA483559028 | RB1 | c.2051del (p.Phe684SerfsTer12) c.194+78335del c.1790del (p.Phe597SerfsTer12) | COSMIC |
13 | g.48459776T>A | CA483559029 | RB1 | c.2049T>A (p.Leu683=) c.194+78333T>A c.1788T>A (p.Leu596=) | |
13 | g.48459776T>C | CA249308185 | RB1 | c.2049T>C (p.Leu683=) c.194+78333T>C c.1788T>C (p.Leu596=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.48459776T>G | CA483559030 | RB1 | c.2049T>G (p.Leu683=) c.194+78333T>G c.1788T>G (p.Leu596=) | ClinVar dbSNP |
13 | g.48459776T= | CA2090008099 | RB1 | c.2049T= (p.Leu683=) c.194+78333T= c.1788T= (p.Leu596=) | |
13 | g.48459777T>A | CA388166845 | RB1 | c.2050T>A (p.Phe684Ile) c.194+78334T>A c.1789T>A (p.Phe597Ile) | |
13 | g.48459777T>C | CA388166846 | RB1 | c.2050T>C (p.Phe684Leu) c.194+78334T>C c.1789T>C (p.Phe597Leu) | |
13 | g.48459777T>G | CA388166847 | RB1 | c.2050T>G (p.Phe684Val) c.194+78334T>G c.1789T>G (p.Phe597Val) | |
13 | g.48459778T>A | CA388166848 | RB1 | c.2051T>A (p.Phe684Tyr) c.194+78335T>A c.1790T>A (p.Phe597Tyr) | |
13 | g.48459778T>C | CA388166849 | RB1 | c.2051T>C (p.Phe684Ser) c.194+78335T>C c.1790T>C (p.Phe597Ser) | ClinVar |
13 | g.48459778T>G | CA388166850 | RB1 | c.2051T>G (p.Phe684Cys) c.194+78335T>G c.1790T>G (p.Phe597Cys) | |
13 | g.48459779C>A | CA388166851 | RB1 | c.2052C>A (p.Phe684Leu) c.194+78336C>A c.1791C>A (p.Phe597Leu) | dbSNP |
13 | g.48459779C= | CA2090008102 | RB1 | c.2052C= (p.Phe684=) c.194+78336C= c.1791C= (p.Phe597=) | |
13 | g.48459779C>G | CA388166852 | RB1 | c.2052C>G (p.Phe684Leu) c.194+78336C>G c.1791C>G (p.Phe597Leu) | dbSNP |
13 | g.48459779C>T | CA033830 | RB1 | c.2052C>T (p.Phe684=) c.194+78336C>T c.1791C>T (p.Phe597=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.48459780C>A | CA388166853 | RB1 | c.2053C>A (p.Gln685Lys) c.194+78337C>A c.1792C>A (p.Gln598Lys) | dbSNP |
13 | g.48459780C= | CA2090008110 | RB1 | c.2053C= (p.Gln685=) c.194+78337C= c.1792C= (p.Gln598=) | |
13 | g.48459780C>G | CA388166854 | RB1 | c.2053C>G (p.Gln685Glu) c.194+78337C>G c.1792C>G (p.Gln598Glu) | dbSNP |
13 | g.48459780C>T | CA10583160 | RB1 | c.2053C>T (p.Gln685Ter) c.194+78337C>T c.1792C>T (p.Gln598Ter) | ClinVar dbSNP COSMIC |
13 | g.48459781A>C | CA388166855 | RB1 | c.2054A>C (p.Gln685Pro) c.194+78338A>C c.1793A>C (p.Gln598Pro) | |
13 | g.48459781A>G | CA388166856 | RB1 | c.2054A>G (p.Gln685Arg) c.194+78338A>G c.1793A>G (p.Gln598Arg) | dbSNP gnomAD v4 |
13 | g.48459781A>T | CA388166857 | RB1 | c.2054A>T (p.Gln685Leu) c.194+78338A>T c.1793A>T (p.Gln598Leu) | dbSNP |
13 | g.48459781delinsCC | CA2695218652 | RB1 | c.2054delinsCC (p.Gln685ProfsTer7) c.194+78338delinsCC c.1793delinsCC (p.Gln598ProfsTer7) | |
13 | g.48459781_48459782delinsAG | CA2090008114 | RB1 | c.2054_2055delinsAG (p.Gln685=) c.194+78338_194+78339delinsAG c.1793_1794delinsAG (p.Gln598=) | |
13 | g.48459782del | CA645369598 | RB1 | c.2055del (p.Gln685HisfsTer11) c.194+78339del c.1794del (p.Gln598HisfsTer11) | ClinVar dbSNP |
13 | g.48459782G>A | CA483559031 | RB1 | c.2055G>A (p.Gln685=) c.194+78339G>A c.1794G>A (p.Gln598=) | ClinVar dbSNP |
13 | g.48459782G>C | CA388166858 | RB1 | c.2055G>C (p.Gln685His) c.194+78339G>C c.1794G>C (p.Gln598His) | dbSNP |
13 | g.48459782G>T | CA388166859 | RB1 | c.2055G>T (p.Gln685His) c.194+78339G>T c.1794G>T (p.Gln598His) | |
13 | g.48459782_48459783del | CA2695218653 | RB1 | c.2055_2056del (p.Thr687ProfsTer4) c.194+78339_194+78340del c.1794_1795del (p.Thr600ProfsTer4) | |
13 | g.48459783C>A | CA388166862 | RB1 | c.2056C>A (p.His686Asn) c.194+78340C>A c.1795C>A (p.His599Asn) | ClinVar dbSNP |
13 | g.48459783C>G | CA388166861 | RB1 | c.2056C>G (p.His686Asp) c.194+78340C>G c.1795C>G (p.His599Asp) | dbSNP |
13 | g.48459783C>T | CA388166860 | RB1 | c.2056C>T (p.His686Tyr) c.194+78340C>T c.1795C>T (p.His599Tyr) | dbSNP COSMIC |
13 | g.48459784A= | CA2090008121 | RB1 | c.2057A= (p.His686=) c.194+78341A= c.1796A= (p.His599=) | |
13 | g.48459784A>C | CA388166863 | RB1 | c.2057A>C (p.His686Pro) c.194+78341A>C c.1796A>C (p.His599Pro) | dbSNP |
13 | g.48459784A>G | CA388166864 | RB1 | c.2057A>G (p.His686Arg) c.194+78341A>G c.1796A>G (p.His599Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48459784A>T | CA388166865 | RB1 | c.2057A>T (p.His686Leu) c.194+78341A>T c.1796A>T (p.His599Leu) | dbSNP |
13 | g.48459785C>A | CA388166866 | RB1 | c.2058C>A (p.His686Gln) c.194+78342C>A c.1797C>A (p.His599Gln) | ClinVar dbSNP |
13 | g.48459785C= | CA2090008124 | RB1 | c.2058C= (p.His686=) c.194+78342C= c.1797C= (p.His599=) | |
13 | g.48459785C>G | CA388166867 | RB1 | c.2058C>G (p.His686Gln) c.194+78342C>G c.1797C>G (p.His599Gln) | dbSNP |
13 | g.48459785C>T | CA033838 | RB1 | c.2058C>T (p.His686=) c.194+78342C>T c.1797C>T (p.His599=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.48459786_48459789del | CA2695218654 | RB1 | c.2059_2062del (p.Thr687CysfsTer8) c.194+78343_194+78346del c.1798_1801del (p.Thr600CysfsTer8) | |
13 | g.48459786A>C | CA388166870 | RB1 | c.2059A>C (p.Thr687Pro) c.194+78343A>C c.1798A>C (p.Thr600Pro) | dbSNP |
13 | g.48459786A>G | CA388166868 | RB1 | c.2059A>G (p.Thr687Ala) c.194+78343A>G c.1798A>G (p.Thr600Ala) | ClinVar |
13 | g.48459786A>T | CA388166869 | RB1 | c.2059A>T (p.Thr687Ser) c.194+78343A>T c.1798A>T (p.Thr600Ser) | dbSNP |
13 | g.48459786_48459793dup | CA2697551907 | RB1 | c.2059_2066dup (p.Asn690ProfsTer9) c.194+78343_194+78350dup c.1798_1805dup (p.Asn603ProfsTer9) | ClinVar |
13 | g.48459787C>A | CA388166871 | RB1 | c.2060C>A (p.Thr687Asn) c.194+78344C>A c.1799C>A (p.Thr600Asn) | dbSNP |
13 | g.48459787C>G | CA388166872 | RB1 | c.2060C>G (p.Thr687Ser) c.194+78344C>G c.1799C>G (p.Thr600Ser) | ClinVar dbSNP |
13 | g.48459787C>T | CA388166873 | RB1 | c.2060C>T (p.Thr687Ile) c.194+78344C>T c.1799C>T (p.Thr600Ile) | dbSNP COSMIC |
13 | g.48459789del | CA2695218656 | RB1 | c.2062del (p.Leu688CysfsTer8) c.194+78346del c.1801del (p.Leu601CysfsTer8) | |
13 | g.48459788C>A | CA483559032 | RB1 | c.2061C>A (p.Thr687=) c.194+78345C>A c.1800C>A (p.Thr600=) | dbSNP |
13 | g.48459788C= | CA2090008128 | RB1 | c.2061C= (p.Thr687=) c.194+78345C= c.1800C= (p.Thr600=) | |
13 | g.48459788C>G | CA483559033 | RB1 | c.2061C>G (p.Thr687=) c.194+78345C>G c.1800C>G (p.Thr600=) | dbSNP |
13 | g.48459788C>T | CA033872 | RB1 | c.2061C>T (p.Thr687=) c.194+78345C>T c.1800C>T (p.Thr600=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48459789C>A | CA388166874 | RB1 | c.2062C>A (p.Leu688Met) c.194+78346C>A c.1801C>A (p.Leu601Met) | dbSNP |
13 | g.48459789C>G | CA388166875 | RB1 | c.2062C>G (p.Leu688Val) c.194+78346C>G c.1801C>G (p.Leu601Val) | dbSNP |
13 | g.48459789C>T | CA483559034 | RB1 | c.2062C>T (p.Leu688=) c.194+78346C>T c.1801C>T (p.Leu601=) | ClinVar dbSNP |
13 | g.48459789_48459790delinsGG | CA2831039808 | RB1 | c.2062_2063delinsGG (p.Leu688Gly) c.194+78346_194+78347delinsGG c.1801_1802delinsGG (p.Leu601Gly) | |
13 | g.48459790T>A | CA388166876 | RB1 | c.2063T>A (p.Leu688Gln) c.194+78347T>A c.1802T>A (p.Leu601Gln) | dbSNP |
13 | g.48459790T>C | CA388166877 | RB1 | c.2063T>C (p.Leu688Pro) c.194+78347T>C c.1802T>C (p.Leu601Pro) | dbSNP COSMIC |
13 | g.48459790T>G | CA388166878 | RB1 | c.2063T>G (p.Leu688Arg) c.194+78347T>G c.1802T>G (p.Leu601Arg) | |
13 | g.48459791G>A | CA483559035 | RB1 | c.2064G>A (p.Leu688=) c.194+78348G>A c.1803G>A (p.Leu601=) | ClinVar dbSNP |
13 | g.48459791G>C | CA483559036 | RB1 | c.2064G>C (p.Leu688=) c.194+78348G>C c.1803G>C (p.Leu601=) | dbSNP |
13 | g.48459791G= | CA2090008134 | RB1 | c.2064G= (p.Leu688=) c.194+78348G= c.1803G= (p.Leu601=) | |
13 | g.48459791G>T | CA483559037 | RB1 | c.2064G>T (p.Leu688=) c.194+78348G>T c.1803G>T (p.Leu601=) | |
13 | g.48459791_48459800del | CA645571619 | RB1 | c.2064_2073del (p.Gln689MetfsTer4) c.194+78348_194+78357del c.1803_1812del (p.Gln602MetfsTer4) | COSMIC COSMIC |
13 | g.48459792C>A | CA388166879 | RB1 | c.2065C>A (p.Gln689Lys) c.194+78349C>A c.1804C>A (p.Gln602Lys) | dbSNP |
13 | g.48459792C= | CA2090008138 | RB1 | c.2065C= (p.Gln689=) c.194+78349C= c.1804C= (p.Gln602=) | |
13 | g.48459792C>G | CA388166880 | RB1 | c.2065C>G (p.Gln689Glu) c.194+78349C>G c.1804C>G (p.Gln602Glu) | dbSNP |
13 | g.48459792C>T | CA388166881 | RB1 | c.2065C>T (p.Gln689Ter) c.194+78349C>T c.1804C>T (p.Gln602Ter) | ClinVar dbSNP COSMIC COSMIC |
13 | g.48459793A= | CA2090008143 | RB1 | c.2066A= (p.Gln689=) c.194+78350A= c.1805A= (p.Gln602=) | |
13 | g.48459793A>C | CA388166882 | RB1 | c.2066A>C (p.Gln689Pro) c.194+78350A>C c.1805A>C (p.Gln602Pro) | |
13 | g.48459793A>G | CA388166884 | RB1 | c.2066A>G (p.Gln689Arg) c.194+78350A>G c.1805A>G (p.Gln602Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.48459793A>T | CA388166883 | RB1 | c.2066A>T (p.Gln689Leu) c.194+78350A>T c.1805A>T (p.Gln602Leu) | dbSNP |
13 | g.48459793_48459806delinsAGAATGAGTATGAA | CA2090008142 | RB1 | c.2066_2079delinsAGAATGAGTATGAA (p.Gln689=) c.194+78350_194+78363delinsAGAATGAGTATGAA c.1805_1818delinsAGAATGAGTATGAA (p.Gln602=) | |
13 | g.48459794G>A | CA483559038 | RB1 | c.2067G>A (p.Gln689=) c.194+78351G>A c.1806G>A (p.Gln602=) | dbSNP |
13 | g.48459794G>C | CA388166885 | RB1 | c.2067G>C (p.Gln689His) c.194+78351G>C c.1806G>C (p.Gln602His) | dbSNP |
13 | g.48459794G>T | CA388166886 | RB1 | c.2067G>T (p.Gln689His) c.194+78351G>T c.1806G>T (p.Gln602His) | |
13 | g.48459794_48459806delinsCAC | CA026419 | RB1 | c.2067_2079delinsCAC (p.Gln689HisfsTer4) c.194+78351_194+78363delinsCAC c.1806_1818delinsCAC (p.Gln602HisfsTer4) | ClinVar dbSNP |
13 | g.48459795A>C | CA388166887 | RB1 | c.2068A>C (p.Asn690His) c.194+78352A>C c.1807A>C (p.Asn603His) | |
13 | g.48459795A>G | CA388166888 | RB1 | c.2068A>G (p.Asn690Asp) c.194+78352A>G c.1807A>G (p.Asn603Asp) | |
13 | g.48459795A>T | CA388166889 | RB1 | c.2068A>T (p.Asn690Tyr) c.194+78352A>T c.1807A>T (p.Asn603Tyr) | |
13 | g.48459796A= | CA2090008150 | RB1 | c.2069A= (p.Asn690=) c.194+78353A= c.1808A= (p.Asn603=) | |
13 | g.48459796A>C | CA388166890 | RB1 | c.2069A>C (p.Asn690Thr) c.194+78353A>C c.1808A>C (p.Asn603Thr) | |
13 | g.48459796A>G | CA388166891 | RB1 | c.2069A>G (p.Asn690Ser) c.194+78353A>G c.1808A>G (p.Asn603Ser) | ClinVar dbSNP |
13 | g.48459796A>T | CA388166892 | RB1 | c.2069A>T (p.Asn690Ile) c.194+78353A>T c.1808A>T (p.Asn603Ile) | dbSNP |
13 | g.48459801_48459814del | CA2580087606 | RB1 | c.2074_2087del (p.Tyr692ArgfsTer24) c.194+78358_194+78371del c.1813_1826del (p.Tyr605ArgfsTer24) | ClinVar |
13 | g.48459797T>A | CA388166893 | RB1 | c.2070T>A (p.Asn690Lys) c.194+78354T>A c.1809T>A (p.Asn603Lys) | ClinVar dbSNP |
13 | g.48459797T>C | CA483559039 | RB1 | c.2070T>C (p.Asn690=) c.194+78354T>C c.1809T>C (p.Asn603=) | |
13 | g.48459797T>G | CA388166894 | RB1 | c.2070T>G (p.Asn690Lys) c.194+78354T>G c.1809T>G (p.Asn603Lys) | dbSNP |
13 | g.48459797dup | CA2695218657 | RB1 | c.2070dup (p.Glu691Ter) c.194+78354dup c.1809dup (p.Glu604Ter) | |
13 | g.48459798G>A | CA388166897 | RB1 | c.2071G>A (p.Glu691Lys) c.194+78355G>A c.1810G>A (p.Glu604Lys) | ClinVar dbSNP |
13 | g.48459798G>C | CA388166896 | RB1 | c.2071G>C (p.Glu691Gln) c.194+78355G>C c.1810G>C (p.Glu604Gln) | dbSNP |
13 | g.48459798G= | CA2090008154 | RB1 | c.2071G= (p.Glu691=) c.194+78355G= c.1810G= (p.Glu604=) | |
13 | g.48459798G>T | CA388166895 | RB1 | c.2071G>T (p.Glu691Ter) c.194+78355G>T c.1810G>T (p.Glu604Ter) | dbSNP |
13 | g.48459799del | CA2695218658 | RB1 | c.2072del (p.Glu691GlyfsTer5) c.194+78356del c.1811del (p.Glu604GlyfsTer5) | |
13 | g.48459799A>C | CA388166898 | RB1 | c.2072A>C (p.Glu691Ala) c.194+78356A>C c.1811A>C (p.Glu604Ala) | |
13 | g.48459799A>G | CA388166899 | RB1 | c.2072A>G (p.Glu691Gly) c.194+78356A>G c.1811A>G (p.Glu604Gly) | dbSNP |
13 | g.48459799A>T | CA388166900 | RB1 | c.2072A>T (p.Glu691Val) c.194+78356A>T c.1811A>T (p.Glu604Val) | dbSNP |
13 | g.48459799_48459802del | CA2695218659 | RB1 | c.2072_2075del (p.Glu691ValfsTer4) c.194+78356_194+78359del c.1811_1814del (p.Glu604ValfsTer4) | |
13 | g.48459800del | CA2695218660 | RB1 | c.2073del (p.Glu691AspfsTer5) c.194+78357del c.1812del (p.Glu604AspfsTer5) | |
13 | g.48459800G>A | CA483559040 | RB1 | c.2073G>A (p.Glu691=) c.194+78357G>A c.1812G>A (p.Glu604=) | ClinVar dbSNP |
13 | g.48459800G>C | CA388166901 | RB1 | c.2073G>C (p.Glu691Asp) c.194+78357G>C c.1812G>C (p.Glu604Asp) | dbSNP |
13 | g.48459800G>T | CA388166902 | RB1 | c.2073G>T (p.Glu691Asp) c.194+78357G>T c.1812G>T (p.Glu604Asp) | |
13 | g.48459801T>A | CA388166903 | RB1 | c.2074T>A (p.Tyr692Asn) c.194+78358T>A c.1813T>A (p.Tyr605Asn) | dbSNP gnomAD v4 |
13 | g.48459801T>C | CA388166904 | RB1 | c.2074T>C (p.Tyr692His) c.194+78358T>C c.1813T>C (p.Tyr605His) | gnomAD v4 |
13 | g.48459801T>G | CA388166905 | RB1 | c.2074T>G (p.Tyr692Asp) c.194+78358T>G c.1813T>G (p.Tyr605Asp) | |
13 | g.48459802A= | CA2090008156 | RB1 | c.2075A= (p.Tyr692=) c.194+78359A= c.1814A= (p.Tyr605=) | |
13 | g.48459802A>C | CA388166906 | RB1 | c.2075A>C (p.Tyr692Ser) c.194+78359A>C c.1814A>C (p.Tyr605Ser) | |
13 | g.48459802A>G | CA388166907 | RB1 | c.2075A>G (p.Tyr692Cys) c.194+78359A>G c.1814A>G (p.Tyr605Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.48459802A>T | CA388166908 | RB1 | c.2075A>T (p.Tyr692Phe) c.194+78359A>T c.1814A>T (p.Tyr605Phe) | dbSNP |
13 | g.48459803T>A | CA388166909 | RB1 | c.2076T>A (p.Tyr692Ter) c.194+78360T>A c.1815T>A (p.Tyr605Ter) | dbSNP |
13 | g.48459803T>C | CA16614321 | RB1 | c.2076T>C (p.Tyr692=) c.194+78360T>C c.1815T>C (p.Tyr605=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.48459803T>G | CA388166910 | RB1 | c.2076T>G (p.Tyr692Ter) c.194+78360T>G c.1815T>G (p.Tyr605Ter) | |
13 | g.48459803T= | CA2090008160 | RB1 | c.2076T= (p.Tyr692=) c.194+78360T= c.1815T= (p.Tyr605=) | |
13 | g.48459804del | CA483559041 | RB1 | c.2077del (p.Glu693AsnfsTer3) c.194+78361del c.1816del (p.Glu606AsnfsTer3) | COSMIC |
13 | g.48459804G>A | CA388166912 | RB1 | c.2077G>A (p.Glu693Lys) c.194+78361G>A c.1816G>A (p.Glu606Lys) | dbSNP |
13 | g.48459804G>C | CA388166913 | RB1 | c.2077G>C (p.Glu693Gln) c.194+78361G>C c.1816G>C (p.Glu606Gln) | dbSNP |
13 | g.48459804G>T | CA388166911 | RB1 | c.2077G>T (p.Glu693Ter) c.194+78361G>T c.1816G>T (p.Glu606Ter) | COSMIC COSMIC |
13 | g.48459805A= | CA2090008164 | RB1 | c.2078A= (p.Glu693=) c.194+78362A= c.1817A= (p.Glu606=) | |
13 | g.48459805A>C | CA388166914 | RB1 | c.2078A>C (p.Glu693Ala) c.194+78362A>C c.1817A>C (p.Glu606Ala) | |
13 | g.48459805A>G | CA033921 | RB1 | c.2078A>G (p.Glu693Gly) c.194+78362A>G c.1817A>G (p.Glu606Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.48459805A>T | CA388166915 | RB1 | c.2078A>T (p.Glu693Val) c.194+78362A>T c.1817A>T (p.Glu606Val) | ClinVar dbSNP |
13 | g.48459806dup | CA2837995365 | RB1 | c.2079dup (p.Leu694ThrfsTer27) c.194+78363dup c.1818dup (p.Leu607ThrfsTer27) | |
13 | g.48459806A= | CA2090008168 | RB1 | c.2079A= (p.Glu693=) c.194+78363A= c.1818A= (p.Glu606=) | |
13 | g.48459806A>C | CA388166916 | RB1 | c.2079A>C (p.Glu693Asp) c.194+78363A>C c.1818A>C (p.Glu606Asp) | dbSNP |
13 | g.48459806A>G | CA483559042 | RB1 | c.2079A>G (p.Glu693=) c.194+78363A>G c.1818A>G (p.Glu606=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.48459806A>T | CA388166917 | RB1 | c.2079A>T (p.Glu693Asp) c.194+78363A>T c.1818A>T (p.Glu606Asp) | dbSNP |
13 | g.48459807C>A | CA388166918 | RB1 | c.2080C>A (p.Leu694Ile) c.194+78364C>A c.1819C>A (p.Leu607Ile) | dbSNP |
13 | g.48459807C>G | CA388166919 | RB1 | c.2080C>G (p.Leu694Val) c.194+78364C>G c.1819C>G (p.Leu607Val) | dbSNP |
13 | g.48459807C>T | CA388166920 | RB1 | c.2080C>T (p.Leu694Phe) c.194+78364C>T c.1819C>T (p.Leu607Phe) | dbSNP |
13 | g.48459808T>A | CA388166921 | RB1 | c.2081T>A (p.Leu694His) c.194+78365T>A c.1820T>A (p.Leu607His) | dbSNP gnomAD v4 |
13 | g.48459808T>C | CA388166922 | RB1 | c.2081T>C (p.Leu694Pro) c.194+78365T>C c.1820T>C (p.Leu607Pro) | gnomAD v4 |
13 | g.48459808T>G | CA388166923 | RB1 | c.2081T>G (p.Leu694Arg) c.194+78365T>G c.1820T>G (p.Leu607Arg) | gnomAD v4 |
13 | g.48459809C>A | CA483559043 | RB1 | c.2082C>A (p.Leu694=) c.194+78366C>A c.1821C>A (p.Leu607=) | dbSNP |
13 | g.48459809C= | CA2090008171 | RB1 | c.2082C= (p.Leu694=) c.194+78366C= c.1821C= (p.Leu607=) | |
13 | g.48459809C>G | CA033965 | RB1 | c.2082C>G (p.Leu694=) c.194+78366C>G c.1821C>G (p.Leu607=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.48459809C>T | CA483559044 | RB1 | c.2082C>T (p.Leu694=) c.194+78366C>T c.1821C>T (p.Leu607=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.48459810A= | CA2090008174 | RB1 | c.2083A= (p.Met695=) c.194+78367A= c.1822A= (p.Met608=) | |
13 | g.48459810A>C | CA388166924 | RB1 | c.2083A>C (p.Met695Leu) c.194+78367A>C c.1822A>C (p.Met608Leu) | dbSNP gnomAD v4 |
13 | g.48459810A>G | CA388166925 | RB1 | c.2083A>G (p.Met695Val) c.194+78367A>G c.1822A>G (p.Met608Val) | dbSNP COSMIC |
13 | g.48459810A>T | CA388166926 | RB1 | c.2083A>T (p.Met695Leu) c.194+78367A>T c.1822A>T (p.Met608Leu) | ClinVar dbSNP |
13 | g.48459810dup | CA913189236 | RB1 | c.2083dup (p.Met695AsnfsTer26) c.194+78367dup c.1822dup (p.Met608AsnfsTer26) | |
13 | g.48459811del | CA483559045 | RB1 | c.2084del (p.Met695ArgfsTer10) c.194+78368del c.1823del (p.Met608ArgfsTer10) | COSMIC |
13 | g.48459811T>A | CA388166927 | RB1 | c.2084T>A (p.Met695Lys) c.194+78368T>A c.1823T>A (p.Met608Lys) | ClinVar dbSNP COSMIC COSMIC |
13 | g.48459811T>C | CA388166928 | RB1 | c.2084T>C (p.Met695Thr) c.194+78368T>C c.1823T>C (p.Met608Thr) | |
13 | g.48459811T>G | CA026420 | RB1 | c.2084T>G (p.Met695Arg) c.194+78368T>G c.1823T>G (p.Met608Arg) | ClinVar dbSNP |
13 | g.48459811T= | CA2090008178 | RB1 | c.2084T= (p.Met695=) c.194+78368T= c.1823T= (p.Met608=) | |
13 | g.48459812G>A | CA388166929 | RB1 | c.2085G>A (p.Met695Ile) c.194+78369G>A c.1824G>A (p.Met608Ile) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.48459812G>C | CA388166931 | RB1 | c.2085G>C (p.Met695Ile) c.194+78369G>C c.1824G>C (p.Met608Ile) | dbSNP |
13 | g.48459812G= | CA2090008181 | RB1 | c.2085G= (p.Met695=) c.194+78369G= c.1824G= (p.Met608=) | |
13 | g.48459812G>T | CA388166930 | RB1 | c.2085G>T (p.Met695Ile) c.194+78369G>T c.1824G>T (p.Met608Ile) | dbSNP |
13 | g.48459816_48459817del | CA645571620 | RB1 | c.2089_2090del (p.Asp697GlnfsTer23) c.194+78373_194+78374del c.1828_1829del (p.Asp610GlnfsTer23) | COSMIC |
13 | g.48459814_48459817del | CA2695218662 | RB1 | c.2087_2090del (p.Arg696ThrfsTer8) c.194+78371_194+78374del c.1826_1829del (p.Arg609ThrfsTer8) | |
13 | g.48459813A>C | CA483559046 | RB1 | c.2086A>C (p.Arg696=) c.194+78370A>C c.1825A>C (p.Arg609=) | |
13 | g.48459813A>G | CA388166932 | RB1 | c.2086A>G (p.Arg696Gly) c.194+78370A>G c.1825A>G (p.Arg609Gly) | dbSNP |
13 | g.48459813A>T | CA388166933 | RB1 | c.2086A>T (p.Arg696Ter) c.194+78370A>T c.1825A>T (p.Arg609Ter) | dbSNP |
13 | g.48459814G>A | CA388166934 | RB1 | c.2087G>A (p.Arg696Lys) c.194+78371G>A c.1826G>A (p.Arg609Lys) | dbSNP |
13 | g.48459814G>C | CA388166935 | RB1 | c.2087G>C (p.Arg696Thr) c.194+78371G>C c.1826G>C (p.Arg609Thr) | dbSNP |
13 | g.48459814G>T | CA388166936 | RB1 | c.2087G>T (p.Arg696Ile) c.194+78371G>T c.1826G>T (p.Arg609Ile) | |
13 | g.48459815del | CA2695218663 | RB1 | c.2088del (p.Asp697ThrfsTer8) c.194+78372del c.1827del (p.Asp610ThrfsTer8) | |
13 | g.48459815A>C | CA388166937 | RB1 | c.2088A>C (p.Arg696Ser) c.194+78372A>C c.1827A>C (p.Arg609Ser) | |
13 | g.48459815A>G | CA483559047 | RB1 | c.2088A>G (p.Arg696=) c.194+78372A>G c.1827A>G (p.Arg609=) | dbSNP |
13 | g.48459815A>T | CA388166938 | RB1 | c.2088A>T (p.Arg696Ser) c.194+78372A>T c.1827A>T (p.Arg609Ser) | dbSNP |
13 | g.48459816G>A | CA388166939 | RB1 | c.2089G>A (p.Asp697Asn) c.194+78373G>A c.1828G>A (p.Asp610Asn) | dbSNP |
13 | g.48459816G>C | CA388166940 | RB1 | c.2089G>C (p.Asp697His) c.194+78373G>C c.1828G>C (p.Asp610His) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.48459816G= | CA2090008184 | RB1 | c.2089G= (p.Asp697=) c.194+78373G= c.1828G= (p.Asp610=) | |
13 | g.48459816G>T | CA388166941 | RB1 | c.2089G>T (p.Asp697Tyr) c.194+78373G>T c.1828G>T (p.Asp610Tyr) | |
13 | g.48459817A>C | CA388166944 | RB1 | c.2090A>C (p.Asp697Ala) c.194+78374A>C c.1829A>C (p.Asp610Ala) | dbSNP |
13 | g.48459817A>G | CA388166943 | RB1 | c.2090A>G (p.Asp697Gly) c.194+78374A>G c.1829A>G (p.Asp610Gly) | dbSNP |
13 | g.48459817A>T | CA388166942 | RB1 | c.2090A>T (p.Asp697Val) c.194+78374A>T c.1829A>T (p.Asp610Val) | dbSNP |
13 | g.48459818del | CA2573332678 | RB1 | c.2091del (p.Asp697GlufsTer8) c.194+78375del c.1830del (p.Asp610GlufsTer8) | |
13 | g.48459818C>A | CA388166945 | RB1 | c.2091C>A (p.Asp697Glu) c.194+78375C>A c.1830C>A (p.Asp610Glu) | |
13 | g.48459818C= | CA2018068533 | RB1 | c.2091C= (p.Asp697=) c.194+78375C= c.1830C= (p.Asp610=) | |
13 | g.48459818C>G | CA033984 | RB1 | c.2091C>G (p.Asp697Glu) c.194+78375C>G c.1830C>G (p.Asp610Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48459818C>T | CA483559048 | RB1 | c.2091C>T (p.Asp697=) c.194+78375C>T c.1830C>T (p.Asp610=) | ClinVar dbSNP gnomAD v4 |
13 | g.48459819A>C | CA483559049 | RB1 | c.2092A>C (p.Arg698=) c.194+78376A>C c.1831A>C (p.Arg611=) | |
13 | g.48459819A>G | CA388166946 | RB1 | c.2092A>G (p.Arg698Gly) c.194+78376A>G c.1831A>G (p.Arg611Gly) | dbSNP |
13 | g.48459819A>T | CA388166947 | RB1 | c.2092A>T (p.Arg698Trp) c.194+78376A>T c.1831A>T (p.Arg611Trp) | dbSNP COSMIC COSMIC |
13 | g.48459820G>A | CA388166948 | RB1 | c.2093G>A (p.Arg698Lys) c.194+78377G>A c.1832G>A (p.Arg611Lys) | dbSNP |
13 | g.48459820G>C | CA388166949 | RB1 | c.2093G>C (p.Arg698Thr) c.194+78377G>C c.1832G>C (p.Arg611Thr) | ClinVar dbSNP |
13 | g.48459820G>T | CA388166950 | RB1 | c.2093G>T (p.Arg698Met) c.194+78377G>T c.1832G>T (p.Arg611Met) | dbSNP |
13 | g.48459821del | CA2831039809 | RB1 | c.2094del (p.Arg698SerfsTer7) c.194+78378del c.1833del (p.Arg611SerfsTer7) | |
13 | g.48459821G>A | CA483559050 | RB1 | c.2094G>A (p.Arg698=) c.194+78378G>A c.1833G>A (p.Arg611=) | dbSNP |
13 | g.48459821G>C | CA388166951 | RB1 | c.2094G>C (p.Arg698Ser) c.194+78378G>C c.1833G>C (p.Arg611Ser) | ClinVar dbSNP |
13 | g.48459821G= | CA2090008191 | RB1 | c.2094G= (p.Arg698=) c.194+78378G= c.1833G= (p.Arg611=) | |
13 | g.48459821G>T | CA388166952 | RB1 | c.2094G>T (p.Arg698Ser) c.194+78378G>T c.1833G>T (p.Arg611Ser) | |
13 | g.48459822C>A | CA388166953 | RB1 | c.2095C>A (p.His699Asn) c.194+78379C>A c.1834C>A (p.His612Asn) | dbSNP |
13 | g.48459822C>G | CA388166954 | RB1 | c.2095C>G (p.His699Asp) c.194+78379C>G c.1834C>G (p.His612Asp) | dbSNP |
13 | g.48459822C>T | CA388166955 | RB1 | c.2095C>T (p.His699Tyr) c.194+78379C>T c.1834C>T (p.His612Tyr) | dbSNP gnomAD v4 |
13 | g.48459823A>C | CA388166958 | RB1 | c.2096A>C (p.His699Pro) c.194+78380A>C c.1835A>C (p.His612Pro) | dbSNP |
13 | g.48459823A>G | CA388166956 | RB1 | c.2096A>G (p.His699Arg) c.194+78380A>G c.1835A>G (p.His612Arg) | |
13 | g.48459823A>T | CA388166957 | RB1 | c.2096A>T (p.His699Leu) c.194+78380A>T c.1835A>T (p.His612Leu) | dbSNP |
13 | g.48459824T>A | CA388166959 | RB1 | c.2097T>A (p.His699Gln) c.194+78381T>A c.1836T>A (p.His612Gln) | ClinVar dbSNP |
13 | g.48459824T>C | CA483559051 | RB1 | c.2097T>C (p.His699=) c.194+78381T>C c.1836T>C (p.His612=) | |
13 | g.48459824T>G | CA388166960 | RB1 | c.2097T>G (p.His699Gln) c.194+78381T>G c.1836T>G (p.His612Gln) | |
13 | g.48459824T= | CA2090008194 | RB1 | c.2097T= (p.His699=) c.194+78381T= c.1836T= (p.His612=) | |
13 | g.48459826dup | CA2580087610 | RB1 | c.2099dup (p.Leu700PhefsTer21) c.194+78383dup c.1838dup (p.Leu613PhefsTer21) | ClinVar |
13 | g.48459825T>A | CA388166961 | RB1 | c.2098T>A (p.Leu700Met) c.194+78382T>A c.1837T>A (p.Leu613Met) | dbSNP |
13 | g.48459825T>C | CA483559052 | RB1 | c.2098T>C (p.Leu700=) c.194+78382T>C c.1837T>C (p.Leu613=) | |
13 | g.48459825T>G | CA388166962 | RB1 | c.2098T>G (p.Leu700Val) c.194+78382T>G c.1837T>G (p.Leu613Val) | dbSNP gnomAD v4 |
13 | g.48459826T>A | CA388166963 | RB1 | c.2099T>A (p.Leu700Ter) c.194+78383T>A c.1838T>A (p.Leu613Ter) | dbSNP |
13 | g.48459826T>C | CA388166964 | RB1 | c.2099T>C (p.Leu700Ser) c.194+78383T>C c.1838T>C (p.Leu613Ser) | dbSNP |
13 | g.48459826T>G | CA388166965 | RB1 | c.2099T>G (p.Leu700Trp) c.194+78383T>G c.1838T>G (p.Leu613Trp) | |
13 | g.48459827G>A | CA483559053 | RB1 | c.2100G>A (p.Leu700=) c.194+78384G>A c.1839G>A (p.Leu613=) | dbSNP |
13 | g.48459827G>C | CA388166966 | RB1 | c.2100G>C (p.Leu700Phe) c.194+78384G>C c.1839G>C (p.Leu613Phe) | dbSNP |
13 | g.48459827G= | CA2090008198 | RB1 | c.2100G= (p.Leu700=) c.194+78384G= c.1839G= (p.Leu613=) | |
13 | g.48459827G>T | CA388166967 | RB1 | c.2100G>T (p.Leu700Phe) c.194+78384G>T c.1839G>T (p.Leu613Phe) | dbSNP |
13 | g.48459828G>A | CA026421 | RB1 | c.2101G>A (p.Asp701Asn) c.194+78385G>A c.1840G>A (p.Asp614Asn) | ClinVar dbSNP COSMIC COSMIC |
13 | g.48459828G>C | CA388166968 | RB1 | c.2101G>C (p.Asp701His) c.194+78385G>C c.1840G>C (p.Asp614His) | dbSNP |
13 | g.48459828G= | CA2090008204 | RB1 | c.2101G= (p.Asp701=) c.194+78385G= c.1840G= (p.Asp614=) | |
13 | g.48459828G>T | CA388166969 | RB1 | c.2101G>T (p.Asp701Tyr) c.194+78385G>T c.1840G>T (p.Asp614Tyr) | |
13 | g.48459829A>C | CA388166971 | RB1 | c.2102A>C (p.Asp701Ala) c.194+78386A>C c.1841A>C (p.Asp614Ala) | ClinVar |
13 | g.48459829A>G | CA388166972 | RB1 | c.2102A>G (p.Asp701Gly) c.194+78386A>G c.1841A>G (p.Asp614Gly) | |
13 | g.48459829A>T | CA388166970 | RB1 | c.2102A>T (p.Asp701Val) c.194+78386A>T c.1841A>T (p.Asp614Val) | |
13 | g.48459830_48459842del | CA645571621 | RB1 | c.2103_2106+9del c.194+78387_194+78399del c.1842_1845+9del | COSMIC |
13 | g.48459830C>A | CA388166974 | RB1 | c.2103C>A (p.Asp701Glu) c.194+78387C>A c.1842C>A (p.Asp614Glu) | dbSNP |
13 | g.48459830C>G | CA388166973 | RB1 | c.2103C>G (p.Asp701Glu) c.194+78387C>G c.1842C>G (p.Asp614Glu) | |
13 | g.48459830C>T | CA483559054 | RB1 | c.2103C>T (p.Asp701=) c.194+78387C>T c.1842C>T (p.Asp614=) | dbSNP gnomAD v4 |
13 | g.48459831del | CA2728090172 | RB1 | c.2104del (p.Gln702LysfsTer3) c.194+78388del c.1843del (p.Gln615LysfsTer3) | dbSNP |
13 | g.48459831C>A | CA388166975 | RB1 | c.2104C>A (p.Gln702Lys) c.194+78388C>A c.1843C>A (p.Gln615Lys) | dbSNP COSMIC |
13 | g.48459831C= | CA2090008208 | RB1 | c.2104C= (p.Gln702=) c.194+78388C= c.1843C= (p.Gln615=) | |
13 | g.48459831C>G | CA388166976 | RB1 | c.2104C>G (p.Gln702Glu) c.194+78388C>G c.1843C>G (p.Gln615Glu) | dbSNP |
13 | g.48459831C>T | CA388166977 | RB1 | c.2104C>T (p.Gln702Ter) c.194+78388C>T c.1843C>T (p.Gln615Ter) | ClinVar dbSNP COSMIC COSMIC |
13 | g.48459832A= | CA2090008213 | RB1 | c.2105A= (p.Gln702=) c.194+78389A= c.1844A= (p.Gln615=) | |
13 | g.48459832A>C | CA388166978 | RB1 | c.2105A>C (p.Gln702Pro) c.194+78389A>C c.1844A>C (p.Gln615Pro) | |
13 | g.48459832A>G | CA388166979 | RB1 | c.2105A>G (p.Gln702Arg) c.194+78389A>G c.1844A>G (p.Gln615Arg) | ClinVar dbSNP |
13 | g.48459832A>T | CA388166980 | RB1 | c.2105A>T (p.Gln702Leu) c.194+78389A>T c.1844A>T (p.Gln615Leu) | dbSNP |
13 | g.48459835_48459838del | CA2695218664 | RB1 | c.2106+2_2106+5del c.194+78392_194+78395del c.1845+2_1845+5del | |
13 | g.48459833A>C | CA388166981 | RB1 | c.2106A>C (p.Gln702His) c.194+78390A>C c.1845A>C (p.Gln615His) | |
13 | g.48459833A>G | CA483559055 | RB1 | c.2106A>G (p.Gln702=) c.194+78390A>G c.1845A>G (p.Gln615=) | |
13 | g.48459833A>T | CA388166982 | RB1 | c.2106A>T (p.Gln702His) c.194+78390A>T c.1845A>T (p.Gln615His) | dbSNP |
13 | g.48459834del | CA2695218665 | RB1 | c.2106+1del (n.2106+1del) c.194+78391del c.1845+1del (n.1845+1del) | |
13 | g.48459834G>A | CA388166983 | RB1 | c.2106+1G>A (n.2106+1G>A) c.194+78391G>A c.1845+1G>A (n.1845+1G>A) | ClinVar dbSNP COSMIC |
13 | g.48459834G>C | CA388166984 | RB1 | c.2106+1G>C (n.2106+1G>C) c.194+78391G>C c.1845+1G>C (n.1845+1G>C) | ClinVar dbSNP |
13 | g.48459834G= | CA2090008218 | RB1 | c.2106+1G= (n.2106+1G=) c.194+78391G= c.1845+1G= (n.1845+1G=) | |
13 | g.48459834G>T | CA388166985 | RB1 | c.2106+1G>T (n.2106+1G>T) c.194+78391G>T c.1845+1G>T (n.1845+1G>T) | dbSNP COSMIC COSMIC |
13 | g.48459835T>A | CA388166988 | RB1 | c.2106+2T>A (n.2106+2T>A) c.194+78392T>A c.1845+2T>A (n.1845+2T>A) | ClinVar dbSNP |
13 | g.48459835T>C | CA388166987 | RB1 | c.2106+2T>C (n.2106+2T>C) c.194+78392T>C c.1845+2T>C (n.1845+2T>C) | ClinVar dbSNP |
13 | g.48459835T>G | CA388166986 | RB1 | c.2106+2T>G (n.2106+2T>G) c.194+78392T>G c.1845+2T>G (n.1845+2T>G) | COSMIC |
13 | g.48459835T= | CA2090008224 | RB1 | c.2106+2T= (n.2106+2T=) c.194+78392T= c.1845+2T= (n.1845+2T=) | |
13 | g.48459836A= | CA2090008230 | RB1 | c.2106+3A= (n.2106+3A=) c.194+78393A= c.1845+3A= (n.1845+3A=) | |
13 | g.48459836A>G | CA698682465 | RB1 | c.2106+3A>G (n.2106+3A>G) c.194+78393A>G c.1845+3A>G (n.1845+3A>G) | ClinVar dbSNP gnomAD v4 |
13 | g.48459838_48459840del | CA2799108237 | RB1 | c.2106+5_2106+7del (n.2106+5_2106+7del) c.194+78395_194+78397del c.1845+5_1845+7del (n.1845+5_1845+7del) | |
13 | g.48459838G>A | CA2622985098 | RB1 | c.2106+5G>A (n.2106+5G>A) c.194+78395G>A c.1845+5G>A (n.1845+5G>A) | gnomAD v4 |
13 | g.48459838G>C | CA2728090176 | RB1 | c.2106+5G>C (n.2106+5G>C) c.194+78395G>C c.1845+5G>C (n.1845+5G>C) | dbSNP |
13 | g.48459838_48459839delinsGA | CA2090008232 | RB1 | c.2106+5_2106+6delinsGA (n.2106+5_2106+6delinsGA) c.194+78395_194+78396delinsGA c.1845+5_1845+6delinsGA (n.1845+5_1845+6delinsGA) | |
13 | g.48459842del | CA034167 | RB1 | c.2106+9del (n.2106+9del) c.194+78399del c.1845+9del (n.1845+9del) | dbSNP ExAC gnomAD v2 |
13 | g.48459841A= | CA2090008236 | RB1 | c.2106+8A= (n.2106+8A=) c.194+78398A= c.1845+8A= (n.1845+8A=) | |
13 | g.48459841A>G | CA034188 | RB1 | c.2106+8A>G (n.2106+8A>G) c.194+78398A>G c.1845+8A>G (n.1845+8A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48459841A>T | CA698682474 | RB1 | c.2106+8A>T (n.2106+8A>T) c.194+78398A>T c.1845+8A>T (n.1845+8A>T) | ClinVar dbSNP gnomAD v4 |
13 | g.48459842A= | CA2090008239 | RB1 | c.2106+9A= (n.2106+9A=) c.194+78399A= c.1845+9A= (n.1845+9A=) | |
13 | g.48459842A>C | CA2728090179 | RB1 | c.2106+9A>C (n.2106+9A>C) c.194+78399A>C c.1845+9A>C (n.1845+9A>C) | dbSNP |
13 | g.48459842A>T | CA2728090178 | RB1 | c.2106+9A>T (n.2106+9A>T) c.194+78399A>T c.1845+9A>T (n.1845+9A>T) | dbSNP |
13 | g.48459843T>A | CA2728090183 | RB1 | c.2106+10T>A (n.2106+10T>A) c.194+78400T>A c.1845+10T>A (n.1845+10T>A) | dbSNP |
13 | g.48459844_48459851dup | CA2090008241 | RB1 | c.2106+11_2106+18dup (n.2106+11_2106+18dup) c.194+78401_194+78408dup c.1845+11_1845+18dup (n.1845+11_1845+18dup) | dbSNP |
13 | g.48459844C>G | CA2728090186 | RB1 | c.2106+11C>G (n.2106+11C>G) c.194+78401C>G c.1845+11C>G (n.1845+11C>G) | dbSNP |
13 | g.48459845A= | CA2090008242 | RB1 | c.2106+12A= (n.2106+12A=) c.194+78402A= c.1845+12A= (n.1845+12A=) | |
13 | g.48459845A>C | CA955785578 | RB1 | c.2106+12A>C (n.2106+12A>C) c.194+78402A>C c.1845+12A>C (n.1845+12A>C) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.48459845A>G | CA2727891534 | RB1 | c.2106+12A>G (n.2106+12A>G) c.194+78402A>G c.1845+12A>G (n.1845+12A>G) | dbSNP |
13 | g.48459845A>T | CA2727891535 | RB1 | c.2106+12A>T (n.2106+12A>T) c.194+78402A>T c.1845+12A>T (n.1845+12A>T) | dbSNP |
13 | g.48459846A>G | CA2728090187 | RB1 | c.2106+13A>G (n.2106+13A>G) c.194+78403A>G c.1845+13A>G (n.1845+13A>G) | dbSNP |
13 | g.48459846A>T | CA2728090188 | RB1 | c.2106+13A>T (n.2106+13A>T) c.194+78403A>T c.1845+13A>T (n.1845+13A>T) | dbSNP |
13 | g.48459847G>A | CA2573149593 | RB1 | c.2106+14G>A (n.2106+14G>A) c.194+78404G>A c.1845+14G>A (n.1845+14G>A) | ClinVar dbSNP |
13 | g.48459847G= | CA2090008243 | RB1 | c.2106+14G= (n.2106+14G=) c.194+78404G= c.1845+14G= (n.1845+14G=) | |
13 | g.48459847G>T | CA033996 | RB1 | c.2106+14G>T (n.2106+14G>T) c.194+78404G>T c.1845+14G>T (n.1845+14G>T) | ClinVar dbSNP ExAC gnomAD v4 |
13 | g.48459848C>A | CA2727856456 | RB1 | c.2106+15C>A (n.2106+15C>A) c.194+78405C>A c.1845+15C>A (n.1845+15C>A) | dbSNP |
13 | g.48459848C= | CA2090008244 | RB1 | c.2106+15C= (n.2106+15C=) c.194+78405C= c.1845+15C= (n.1845+15C=) | |
13 | g.48459848C>G | CA609584671 | RB1 | c.2106+15C>G (n.2106+15C>G) c.194+78405C>G c.1845+15C>G (n.1845+15C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.48459848C>T | CA2622985099 | RB1 | c.2106+15C>T (n.2106+15C>T) c.194+78405C>T c.1845+15C>T (n.1845+15C>T) | dbSNP gnomAD v4 |
13 | g.48459849A>C | CA2622985101 | RB1 | c.2106+16A>C (n.2106+16A>C) c.194+78406A>C c.1845+16A>C (n.1845+16A>C) | ClinVar dbSNP gnomAD v4 |
13 | g.48459849A>G | CA2622985100 | RB1 | c.2106+16A>G (n.2106+16A>G) c.194+78406A>G c.1845+16A>G (n.1845+16A>G) | gnomAD v4 |
13 | g.48459849A>T | CA2580087612 | RB1 | c.2106+16A>T (n.2106+16A>T) c.194+78406A>T c.1845+16A>T (n.1845+16A>T) | ClinVar dbSNP gnomAD v4 |
13 | g.48459850C>A | CA2697551908 | RB1 | c.2106+17C>A (n.2106+17C>A) c.194+78407C>A c.1845+17C>A (n.1845+17C>A) | ClinVar dbSNP |
13 | g.48459850C>G | CA2575413692 | RB1 | c.2106+17C>G (n.2106+17C>G) c.194+78407C>G c.1845+17C>G (n.1845+17C>G) | ClinVar dbSNP gnomAD v4 |
13 | g.48459851T>A | CA2728090195 | RB1 | c.2106+18T>A (n.2106+18T>A) c.194+78408T>A c.1845+18T>A (n.1845+18T>A) | dbSNP |
13 | g.48459851T>C | CA2728090193 | RB1 | c.2106+18T>C (n.2106+18T>C) c.194+78408T>C c.1845+18T>C (n.1845+18T>C) | dbSNP |
13 | g.48459851T>G | CA2580087613 | RB1 | c.2106+18T>G (n.2106+18T>G) c.194+78408T>G c.1845+18T>G (n.1845+18T>G) | ClinVar |
13 | g.48459852T>A | CA2573149594 | RB1 | c.2106+19T>A (n.2106+19T>A) c.194+78409T>A c.1845+19T>A (n.1845+19T>A) | ClinVar dbSNP |
13 | g.48459852T>G | CA2580087614 | RB1 | c.2106+19T>G (n.2106+19T>G) c.194+78409T>G c.1845+19T>G (n.1845+19T>G) | ClinVar |
13 | g.48459853C= | CA2090008245 | RB1 | c.2106+20C= (n.2106+20C=) c.194+78410C= c.1845+20C= (n.1845+20C=) | |
13 | g.48459853C>G | CA2622985102 | RB1 | c.2106+20C>G (n.2106+20C>G) c.194+78410C>G c.1845+20C>G (n.1845+20C>G) | dbSNP gnomAD v4 |
13 | g.48459853C>T | CA2090008246 | RB1 | c.2106+20C>T (n.2106+20C>T) c.194+78410C>T c.1845+20C>T (n.1845+20C>T) | dbSNP |