Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.48457665_48462964delCA2695199742RB1c.1960+1316_2107-767del
c.194+76222_194+81521del
c.1699+1316_1846-767del
 ClinVar
13g.48459688_48459833delCA1139532148RB1c.1961_2106del (p.Val654AspfsTer18)
c.194+78245_194+78390del
c.1700_1845del (p.Val567AspfsTer18)
13g.48459721_48459787delCA645571615RB1c.1994_2060del (p.Leu665ProfsTer9)
c.194+78278_194+78344del
c.1733_1799del (p.Leu578ProfsTer9)
 COSMIC
13g.48459750G>ACA388166783RB1c.2023G>A (p.Glu675Lys)
c.194+78307G>A
c.1762G>A (p.Glu588Lys)
 dbSNP COSMIC COSMIC
13g.48459750G>CCA388166784RB1c.2023G>C (p.Glu675Gln)
c.194+78307G>C
c.1762G>C (p.Glu588Gln)
 dbSNP
13g.48459750G=CA2090008041RB1c.2023G= (p.Glu675=)
c.194+78307G=
c.1762G= (p.Glu588=)
13g.48459750G>TCA249308167RB1c.2023G>T (p.Glu675Ter)
c.194+78307G>T
c.1762G>T (p.Glu588Ter)
 ClinVar dbSNP COSMIC COSMIC
13g.48459751A=CA2090008043RB1c.2024A= (p.Glu675=)
c.194+78308A=
c.1763A= (p.Glu588=)
13g.48459751A>CCA388166785RB1c.2024A>C (p.Glu675Ala)
c.194+78308A>C
c.1763A>C (p.Glu588Ala)
 dbSNP
13g.48459751A>GCA388166786RB1c.2024A>G (p.Glu675Gly)
c.194+78308A>G
c.1763A>G (p.Glu588Gly)
13g.48459751A>TCA388166787RB1c.2024A>T (p.Glu675Val)
c.194+78308A>T
c.1763A>T (p.Glu588Val)
13g.48459752A>CCA388166788RB1c.2025A>C (p.Glu675Asp)
c.194+78309A>C
c.1764A>C (p.Glu588Asp)
13g.48459752A>GCA483559015RB1c.2025A>G (p.Glu675=)
c.194+78309A>G
c.1764A>G (p.Glu588=)
 ClinVar
13g.48459752A>TCA388166789RB1c.2025A>T (p.Glu675Asp)
c.194+78309A>T
c.1764A>T (p.Glu588Asp)
13g.48459754_48459761dupCA645571617RB1c.2027_2034dup (p.Ile679Ter)
c.194+78311_194+78318dup
c.1766_1773dup (p.Ile592Ter)
 COSMIC
13g.48459753T>ACA388166790RB1c.2026T>A (p.Leu676Ile)
c.194+78310T>A
c.1765T>A (p.Leu589Ile)
13g.48459753T>CCA483559016RB1c.2026T>C (p.Leu676=)
c.194+78310T>C
c.1765T>C (p.Leu589=)
13g.48459753T>GCA388166791RB1c.2026T>G (p.Leu676Val)
c.194+78310T>G
c.1765T>G (p.Leu589Val)
 ClinVar gnomAD v4
13g.48459754T>ACA388166794RB1c.2027T>A (p.Leu676Ter)
c.194+78311T>A
c.1766T>A (p.Leu589Ter)
 ClinVar dbSNP
13g.48459754T>CCA388166793RB1c.2027T>C (p.Leu676Ser)
c.194+78311T>C
c.1766T>C (p.Leu589Ser)
 ClinVar dbSNP
13g.48459754T>GCA388166792RB1c.2027T>G (p.Leu676Ter)
c.194+78311T>G
c.1766T>G (p.Leu589Ter)
 ClinVar dbSNP
13g.48459754T=CA2090008049RB1c.2027T= (p.Leu676=)
c.194+78311T=
c.1766T= (p.Leu589=)
13g.48459755A>CCA388166795RB1c.2028A>C (p.Leu676Phe)
c.194+78312A>C
c.1767A>C (p.Leu589Phe)
13g.48459755A>GCA483559017RB1c.2028A>G (p.Leu676=)
c.194+78312A>G
c.1767A>G (p.Leu589=)
 dbSNP gnomAD v4
13g.48459755A>TCA388166796RB1c.2028A>T (p.Leu676Phe)
c.194+78312A>T
c.1767A>T (p.Leu589Phe)
 dbSNP
13g.48459755_48459767delCA645571618RB1c.2028_2040del (p.Leu676PhefsTer16)
c.194+78312_194+78324del
c.1767_1779del (p.Leu589PhefsTer16)
 COSMIC
13g.48459756delCA2695218638RB1c.2029del (p.Glu677AsnfsTer19)
c.194+78313del
c.1768del (p.Glu590AsnfsTer19)
13g.48459756G>ACA388166797RB1c.2029G>A (p.Glu677Lys)
c.194+78313G>A
c.1768G>A (p.Glu590Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.48459756G>CCA388166798RB1c.2029G>C (p.Glu677Gln)
c.194+78313G>C
c.1768G>C (p.Glu590Gln)
 dbSNP
13g.48459756G=CA2090008059RB1c.2029G= (p.Glu677=)
c.194+78313G=
c.1768G= (p.Glu590=)
13g.48459756G>TCA16614022RB1c.2029G>T (p.Glu677Ter)
c.194+78313G>T
c.1768G>T (p.Glu590Ter)
 ClinVar dbSNP COSMIC
13g.48459757A=CA2090008061RB1c.2030A= (p.Glu677=)
c.194+78314A=
c.1769A= (p.Glu590=)
13g.48459757A>CCA388166799RB1c.2030A>C (p.Glu677Ala)
c.194+78314A>C
c.1769A>C (p.Glu590Ala)
13g.48459757A>GCA388166800RB1c.2030A>G (p.Glu677Gly)
c.194+78314A>G
c.1769A>G (p.Glu590Gly)
 ClinVar dbSNP
13g.48459757A>TCA388166801RB1c.2030A>T (p.Glu677Val)
c.194+78314A>T
c.1769A>T (p.Glu590Val)
 dbSNP
13g.48459758dupCA2695218641RB1c.2031dup (p.His678ThrfsTer14)
c.194+78315dup
c.1770dup (p.His591ThrfsTer14)
13g.48459758delCA483559018RB1c.2031del (p.Glu677AspfsTer19)
c.194+78315del
c.1770del (p.Glu590AspfsTer19)
 COSMIC
13g.48459758A>CCA388166802RB1c.2031A>C (p.Glu677Asp)
c.194+78315A>C
c.1770A>C (p.Glu590Asp)
13g.48459758A>GCA483559019RB1c.2031A>G (p.Glu677=)
c.194+78315A>G
c.1770A>G (p.Glu590=)
13g.48459758A>TCA388166803RB1c.2031A>T (p.Glu677Asp)
c.194+78315A>T
c.1770A>T (p.Glu590Asp)
 dbSNP
13g.48459759C>ACA388166804RB1c.2032C>A (p.His678Asn)
c.194+78316C>A
c.1771C>A (p.His591Asn)
 dbSNP
13g.48459759C>GCA388166805RB1c.2032C>G (p.His678Asp)
c.194+78316C>G
c.1771C>G (p.His591Asp)
 dbSNP
13g.48459759C>TCA388166806RB1c.2032C>T (p.His678Tyr)
c.194+78316C>T
c.1771C>T (p.His591Tyr)
13g.48459762_48459766delCA2695218643RB1c.2035_2039del (p.Ile679LeufsTer11)
c.194+78319_194+78323del
c.1774_1778del (p.Ile592LeufsTer11)
13g.48459760A=CA2090008066RB1c.2033A= (p.His678=)
c.194+78317A=
c.1772A= (p.His591=)
13g.48459760A>CCA388166807RB1c.2033A>C (p.His678Pro)
c.194+78317A>C
c.1772A>C (p.His591Pro)
13g.48459760A>GCA388166808RB1c.2033A>G (p.His678Arg)
c.194+78317A>G
c.1772A>G (p.His591Arg)
 ClinVar dbSNP gnomAD v4
13g.48459760A>TCA033805RB1c.2033A>T (p.His678Leu)
c.194+78317A>T
c.1772A>T (p.His591Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48459760_48459763dupCA1139768307RB1c.2033_2036dup (p.Ile680TyrfsTer13)
c.194+78317_194+78320dup
c.1772_1775dup (p.Ile593TyrfsTer13)
13g.48459761T>ACA388166809RB1c.2034T>A (p.His678Gln)
c.194+78318T>A
c.1773T>A (p.His591Gln)
 dbSNP
13g.48459761T>CCA483559020RB1c.2034T>C (p.His678=)
c.194+78318T>C
c.1773T>C (p.His591=)
 dbSNP
13g.48459761T>GCA388166810RB1c.2034T>G (p.His678Gln)
c.194+78318T>G
c.1773T>G (p.His591Gln)
13g.48459761T=CA2090008071RB1c.2034T= (p.His678=)
c.194+78318T=
c.1773T= (p.His591=)
13g.48459761dupCA2499222469RB1c.2034dup (p.Ile679TyrfsTer13)
c.194+78318dup
c.1773dup (p.Ile592TyrfsTer13)
 ClinVar dbSNP
13g.48459762A=CA2090008079RB1c.2035A= (p.Ile679=)
c.194+78319A=
c.1774A= (p.Ile592=)
13g.48459762A>CCA388166811RB1c.2035A>C (p.Ile679Leu)
c.194+78319A>C
c.1774A>C (p.Ile592Leu)
 ClinVar dbSNP
13g.48459762A>GCA249308179RB1c.2035A>G (p.Ile679Val)
c.194+78319A>G
c.1774A>G (p.Ile592Val)
 ClinVar dbSNP gnomAD v4
13g.48459762A>TCA388166812RB1c.2035A>T (p.Ile679Phe)
c.194+78319A>T
c.1774A>T (p.Ile592Phe)
 dbSNP
13g.48459762_48459765dupCA1139663289RB1c.2035_2038dup (p.Ile680AsnfsTer13)
c.194+78319_194+78322dup
c.1774_1777dup (p.Ile593AsnfsTer13)
 ClinVar dbSNP
13g.48459763delCA483559021RB1c.2036del (p.Ile679ThrfsTer17)
c.194+78320del
c.1775del (p.Ile592ThrfsTer17)
 COSMIC COSMIC
13g.48459763T>ACA388166813RB1c.2036T>A (p.Ile679Asn)
c.194+78320T>A
c.1775T>A (p.Ile592Asn)
 dbSNP
13g.48459763T>CCA388166814RB1c.2036T>C (p.Ile679Thr)
c.194+78320T>C
c.1775T>C (p.Ile592Thr)
13g.48459763T>GCA388166815RB1c.2036T>G (p.Ile679Ser)
c.194+78320T>G
c.1775T>G (p.Ile592Ser)
13g.48459764C>ACA483559022RB1c.2037C>A (p.Ile679=)
c.194+78321C>A
c.1776C>A (p.Ile592=)
 dbSNP
13g.48459764C=CA2090008081RB1c.2037C= (p.Ile679=)
c.194+78321C=
c.1776C= (p.Ile592=)
13g.48459764C>GCA388166816RB1c.2037C>G (p.Ile679Met)
c.194+78321C>G
c.1776C>G (p.Ile592Met)
 dbSNP
13g.48459764C>TCA483559023RB1c.2037C>T (p.Ile679=)
c.194+78321C>T
c.1776C>T (p.Ile592=)
 ClinVar dbSNP
13g.48459766_48459781dupCA2695218645RB1c.2039_2054dup (p.Gln685HisfsTer12)
c.194+78323_194+78338dup
c.1778_1793dup (p.Gln598HisfsTer12)
13g.48459765A=CA2090008082RB1c.2038A= (p.Ile680=)
c.194+78322A=
c.1777A= (p.Ile593=)
13g.48459765A>CCA388166817RB1c.2038A>C (p.Ile680Leu)
c.194+78322A>C
c.1777A>C (p.Ile593Leu)
 dbSNP gnomAD v4
13g.48459765A>GCA388166818RB1c.2038A>G (p.Ile680Val)
c.194+78322A>G
c.1777A>G (p.Ile593Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.48459765A>TCA388166819RB1c.2038A>T (p.Ile680Phe)
c.194+78322A>T
c.1777A>T (p.Ile593Phe)
 dbSNP gnomAD v4
13g.48459766T>ACA388166820RB1c.2039T>A (p.Ile680Asn)
c.194+78323T>A
c.1778T>A (p.Ile593Asn)
13g.48459766T>CCA388166821RB1c.2039T>C (p.Ile680Thr)
c.194+78323T>C
c.1778T>C (p.Ile593Thr)
 ClinVar dbSNP COSMIC
13g.48459766T>GCA388166822RB1c.2039T>G (p.Ile680Ser)
c.194+78323T>G
c.1778T>G (p.Ile593Ser)
13g.48459766T=CA2090008089RB1c.2039T= (p.Ile680=)
c.194+78323T=
c.1778T= (p.Ile593=)
13g.48459766_48459770dupCA2695218646RB1c.2039_2043dup (p.Thr682SerfsTer16)
c.194+78323_194+78327dup
c.1778_1782dup (p.Thr595SerfsTer16)
13g.48459767C>ACA483559025RB1c.2040C>A (p.Ile680=)
c.194+78324C>A
c.1779C>A (p.Ile593=)
 ClinVar dbSNP
13g.48459767C=CA2090008092RB1c.2040C= (p.Ile680=)
c.194+78324C=
c.1779C= (p.Ile593=)
13g.48459767C>GCA388166823RB1c.2040C>G (p.Ile680Met)
c.194+78324C>G
c.1779C>G (p.Ile593Met)
 dbSNP
13g.48459767C>TCA483559024RB1c.2040C>T (p.Ile680=)
c.194+78324C>T
c.1779C>T (p.Ile593=)
 dbSNP
13g.48459768T>ACA388166825RB1c.2041T>A (p.Trp681Arg)
c.194+78325T>A
c.1780T>A (p.Trp594Arg)
13g.48459768T>CCA388166824RB1c.2041T>C (p.Trp681Arg)
c.194+78325T>C
c.1780T>C (p.Trp594Arg)
13g.48459768T>GCA388166826RB1c.2041T>G (p.Trp681Gly)
c.194+78325T>G
c.1780T>G (p.Trp594Gly)
13g.48459769G>ACA388166827RB1c.2042G>A (p.Trp681Ter)
c.194+78326G>A
c.1781G>A (p.Trp594Ter)
 ClinVar dbSNP
13g.48459769G>CCA388166828RB1c.2042G>C (p.Trp681Ser)
c.194+78326G>C
c.1781G>C (p.Trp594Ser)
 dbSNP
13g.48459769G>TCA388166829RB1c.2042G>T (p.Trp681Leu)
c.194+78326G>T
c.1781G>T (p.Trp594Leu)
13g.48459770G>ACA388166830RB1c.2043G>A (p.Trp681Ter)
c.194+78327G>A
c.1782G>A (p.Trp594Ter)
 ClinVar dbSNP COSMIC COSMIC
13g.48459770G>CCA388166831RB1c.2043G>C (p.Trp681Cys)
c.194+78327G>C
c.1782G>C (p.Trp594Cys)
 dbSNP
13g.48459770G>TCA388166832RB1c.2043G>T (p.Trp681Cys)
c.194+78327G>T
c.1782G>T (p.Trp594Cys)
 dbSNP COSMIC COSMIC
13g.48459771A>CCA388166833RB1c.2044A>C (p.Thr682Pro)
c.194+78328A>C
c.1783A>C (p.Thr595Pro)
 dbSNP
13g.48459771A>GCA388166834RB1c.2044A>G (p.Thr682Ala)
c.194+78328A>G
c.1783A>G (p.Thr595Ala)
 dbSNP
13g.48459771A>TCA388166835RB1c.2044A>T (p.Thr682Ser)
c.194+78328A>T
c.1783A>T (p.Thr595Ser)
 dbSNP
13g.48459776_48459790delCA2695218648RB1c.2049_2063del (p.Phe684_Leu688del)
c.194+78333_194+78347del
c.1788_1802del (p.Phe597_Leu601del)
13g.48459772C>ACA388166836RB1c.2045C>A (p.Thr682Asn)
c.194+78329C>A
c.1784C>A (p.Thr595Asn)
 dbSNP
13g.48459772C>GCA388166837RB1c.2045C>G (p.Thr682Ser)
c.194+78329C>G
c.1784C>G (p.Thr595Ser)
 dbSNP
13g.48459772C>TCA388166838RB1c.2045C>T (p.Thr682Ile)
c.194+78329C>T
c.1784C>T (p.Thr595Ile)
 dbSNP
13g.48459774delCA2580060393RB1c.2047del (p.Leu683PhefsTer13)
c.194+78331del
c.1786del (p.Leu596PhefsTer13)
13g.48459773C>ACA249308182RB1c.2046C>A (p.Thr682=)
c.194+78330C>A
c.1785C>A (p.Thr595=)
 dbSNP
13g.48459773C=CA2090008095RB1c.2046C= (p.Thr682=)
c.194+78330C=
c.1785C= (p.Thr595=)
13g.48459773C>GCA483559027RB1c.2046C>G (p.Thr682=)
c.194+78330C>G
c.1785C>G (p.Thr595=)
 ClinVar dbSNP gnomAD v4
13g.48459773C>TCA483559026RB1c.2046C>T (p.Thr682=)
c.194+78330C>T
c.1785C>T (p.Thr595=)
 ClinVar dbSNP
13g.48459773_48459774insACA2695218650RB1c.2046_2047insA (p.Leu683ThrfsTer9)
c.194+78330_194+78331insA
c.1785_1786insA (p.Leu596ThrfsTer9)
13g.48459774C>ACA388166841RB1c.2047C>A (p.Leu683Ile)
c.194+78331C>A
c.1786C>A (p.Leu596Ile)
13g.48459774C>GCA388166840RB1c.2047C>G (p.Leu683Val)
c.194+78331C>G
c.1786C>G (p.Leu596Val)
13g.48459774C>TCA388166839RB1c.2047C>T (p.Leu683Phe)
c.194+78331C>T
c.1786C>T (p.Leu596Phe)
13g.48459775T>ACA388166842RB1c.2048T>A (p.Leu683His)
c.194+78332T>A
c.1787T>A (p.Leu596His)
13g.48459775T>CCA388166843RB1c.2048T>C (p.Leu683Pro)
c.194+78332T>C
c.1787T>C (p.Leu596Pro)
13g.48459775T>GCA388166844RB1c.2048T>G (p.Leu683Arg)
c.194+78332T>G
c.1787T>G (p.Leu596Arg)
13g.48459778delCA483559028RB1c.2051del (p.Phe684SerfsTer12)
c.194+78335del
c.1790del (p.Phe597SerfsTer12)
 COSMIC
13g.48459776T>ACA483559029RB1c.2049T>A (p.Leu683=)
c.194+78333T>A
c.1788T>A (p.Leu596=)
13g.48459776T>CCA249308185RB1c.2049T>C (p.Leu683=)
c.194+78333T>C
c.1788T>C (p.Leu596=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.48459776T>GCA483559030RB1c.2049T>G (p.Leu683=)
c.194+78333T>G
c.1788T>G (p.Leu596=)
 ClinVar dbSNP
13g.48459776T=CA2090008099RB1c.2049T= (p.Leu683=)
c.194+78333T=
c.1788T= (p.Leu596=)
13g.48459777T>ACA388166845RB1c.2050T>A (p.Phe684Ile)
c.194+78334T>A
c.1789T>A (p.Phe597Ile)
13g.48459777T>CCA388166846RB1c.2050T>C (p.Phe684Leu)
c.194+78334T>C
c.1789T>C (p.Phe597Leu)
13g.48459777T>GCA388166847RB1c.2050T>G (p.Phe684Val)
c.194+78334T>G
c.1789T>G (p.Phe597Val)
13g.48459778T>ACA388166848RB1c.2051T>A (p.Phe684Tyr)
c.194+78335T>A
c.1790T>A (p.Phe597Tyr)
13g.48459778T>CCA388166849RB1c.2051T>C (p.Phe684Ser)
c.194+78335T>C
c.1790T>C (p.Phe597Ser)
 ClinVar
13g.48459778T>GCA388166850RB1c.2051T>G (p.Phe684Cys)
c.194+78335T>G
c.1790T>G (p.Phe597Cys)
13g.48459779C>ACA388166851RB1c.2052C>A (p.Phe684Leu)
c.194+78336C>A
c.1791C>A (p.Phe597Leu)
 dbSNP
13g.48459779C=CA2090008102RB1c.2052C= (p.Phe684=)
c.194+78336C=
c.1791C= (p.Phe597=)
13g.48459779C>GCA388166852RB1c.2052C>G (p.Phe684Leu)
c.194+78336C>G
c.1791C>G (p.Phe597Leu)
 dbSNP
13g.48459779C>TCA033830RB1c.2052C>T (p.Phe684=)
c.194+78336C>T
c.1791C>T (p.Phe597=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.48459780C>ACA388166853RB1c.2053C>A (p.Gln685Lys)
c.194+78337C>A
c.1792C>A (p.Gln598Lys)
 dbSNP
13g.48459780C=CA2090008110RB1c.2053C= (p.Gln685=)
c.194+78337C=
c.1792C= (p.Gln598=)
13g.48459780C>GCA388166854RB1c.2053C>G (p.Gln685Glu)
c.194+78337C>G
c.1792C>G (p.Gln598Glu)
 dbSNP
13g.48459780C>TCA10583160RB1c.2053C>T (p.Gln685Ter)
c.194+78337C>T
c.1792C>T (p.Gln598Ter)
 ClinVar dbSNP COSMIC
13g.48459781A>CCA388166855RB1c.2054A>C (p.Gln685Pro)
c.194+78338A>C
c.1793A>C (p.Gln598Pro)
13g.48459781A>GCA388166856RB1c.2054A>G (p.Gln685Arg)
c.194+78338A>G
c.1793A>G (p.Gln598Arg)
 dbSNP gnomAD v4
13g.48459781A>TCA388166857RB1c.2054A>T (p.Gln685Leu)
c.194+78338A>T
c.1793A>T (p.Gln598Leu)
 dbSNP
13g.48459781delinsCCCA2695218652RB1c.2054delinsCC (p.Gln685ProfsTer7)
c.194+78338delinsCC
c.1793delinsCC (p.Gln598ProfsTer7)
13g.48459781_48459782delinsAGCA2090008114RB1c.2054_2055delinsAG (p.Gln685=)
c.194+78338_194+78339delinsAG
c.1793_1794delinsAG (p.Gln598=)
13g.48459782delCA645369598RB1c.2055del (p.Gln685HisfsTer11)
c.194+78339del
c.1794del (p.Gln598HisfsTer11)
 ClinVar dbSNP
13g.48459782G>ACA483559031RB1c.2055G>A (p.Gln685=)
c.194+78339G>A
c.1794G>A (p.Gln598=)
 ClinVar dbSNP
13g.48459782G>CCA388166858RB1c.2055G>C (p.Gln685His)
c.194+78339G>C
c.1794G>C (p.Gln598His)
 dbSNP
13g.48459782G>TCA388166859RB1c.2055G>T (p.Gln685His)
c.194+78339G>T
c.1794G>T (p.Gln598His)
13g.48459782_48459783delCA2695218653RB1c.2055_2056del (p.Thr687ProfsTer4)
c.194+78339_194+78340del
c.1794_1795del (p.Thr600ProfsTer4)
13g.48459783C>ACA388166862RB1c.2056C>A (p.His686Asn)
c.194+78340C>A
c.1795C>A (p.His599Asn)
 ClinVar dbSNP
13g.48459783C>GCA388166861RB1c.2056C>G (p.His686Asp)
c.194+78340C>G
c.1795C>G (p.His599Asp)
 dbSNP
13g.48459783C>TCA388166860RB1c.2056C>T (p.His686Tyr)
c.194+78340C>T
c.1795C>T (p.His599Tyr)
 dbSNP COSMIC
13g.48459784A=CA2090008121RB1c.2057A= (p.His686=)
c.194+78341A=
c.1796A= (p.His599=)
13g.48459784A>CCA388166863RB1c.2057A>C (p.His686Pro)
c.194+78341A>C
c.1796A>C (p.His599Pro)
 dbSNP
13g.48459784A>GCA388166864RB1c.2057A>G (p.His686Arg)
c.194+78341A>G
c.1796A>G (p.His599Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48459784A>TCA388166865RB1c.2057A>T (p.His686Leu)
c.194+78341A>T
c.1796A>T (p.His599Leu)
 dbSNP
13g.48459785C>ACA388166866RB1c.2058C>A (p.His686Gln)
c.194+78342C>A
c.1797C>A (p.His599Gln)
 ClinVar dbSNP
13g.48459785C=CA2090008124RB1c.2058C= (p.His686=)
c.194+78342C=
c.1797C= (p.His599=)
13g.48459785C>GCA388166867RB1c.2058C>G (p.His686Gln)
c.194+78342C>G
c.1797C>G (p.His599Gln)
 dbSNP
13g.48459785C>TCA033838RB1c.2058C>T (p.His686=)
c.194+78342C>T
c.1797C>T (p.His599=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.48459786_48459789delCA2695218654RB1c.2059_2062del (p.Thr687CysfsTer8)
c.194+78343_194+78346del
c.1798_1801del (p.Thr600CysfsTer8)
13g.48459786A>CCA388166870RB1c.2059A>C (p.Thr687Pro)
c.194+78343A>C
c.1798A>C (p.Thr600Pro)
 dbSNP
13g.48459786A>GCA388166868RB1c.2059A>G (p.Thr687Ala)
c.194+78343A>G
c.1798A>G (p.Thr600Ala)
 ClinVar
13g.48459786A>TCA388166869RB1c.2059A>T (p.Thr687Ser)
c.194+78343A>T
c.1798A>T (p.Thr600Ser)
 dbSNP
13g.48459786_48459793dupCA2697551907RB1c.2059_2066dup (p.Asn690ProfsTer9)
c.194+78343_194+78350dup
c.1798_1805dup (p.Asn603ProfsTer9)
 ClinVar
13g.48459787C>ACA388166871RB1c.2060C>A (p.Thr687Asn)
c.194+78344C>A
c.1799C>A (p.Thr600Asn)
 dbSNP
13g.48459787C>GCA388166872RB1c.2060C>G (p.Thr687Ser)
c.194+78344C>G
c.1799C>G (p.Thr600Ser)
 ClinVar dbSNP
13g.48459787C>TCA388166873RB1c.2060C>T (p.Thr687Ile)
c.194+78344C>T
c.1799C>T (p.Thr600Ile)
 dbSNP COSMIC
13g.48459789delCA2695218656RB1c.2062del (p.Leu688CysfsTer8)
c.194+78346del
c.1801del (p.Leu601CysfsTer8)
13g.48459788C>ACA483559032RB1c.2061C>A (p.Thr687=)
c.194+78345C>A
c.1800C>A (p.Thr600=)
 dbSNP
13g.48459788C=CA2090008128RB1c.2061C= (p.Thr687=)
c.194+78345C=
c.1800C= (p.Thr600=)
13g.48459788C>GCA483559033RB1c.2061C>G (p.Thr687=)
c.194+78345C>G
c.1800C>G (p.Thr600=)
 dbSNP
13g.48459788C>TCA033872RB1c.2061C>T (p.Thr687=)
c.194+78345C>T
c.1800C>T (p.Thr600=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48459789C>ACA388166874RB1c.2062C>A (p.Leu688Met)
c.194+78346C>A
c.1801C>A (p.Leu601Met)
 dbSNP
13g.48459789C>GCA388166875RB1c.2062C>G (p.Leu688Val)
c.194+78346C>G
c.1801C>G (p.Leu601Val)
 dbSNP
13g.48459789C>TCA483559034RB1c.2062C>T (p.Leu688=)
c.194+78346C>T
c.1801C>T (p.Leu601=)
 ClinVar dbSNP
13g.48459790T>ACA388166876RB1c.2063T>A (p.Leu688Gln)
c.194+78347T>A
c.1802T>A (p.Leu601Gln)
 dbSNP
13g.48459790T>CCA388166877RB1c.2063T>C (p.Leu688Pro)
c.194+78347T>C
c.1802T>C (p.Leu601Pro)
 dbSNP COSMIC
13g.48459790T>GCA388166878RB1c.2063T>G (p.Leu688Arg)
c.194+78347T>G
c.1802T>G (p.Leu601Arg)
13g.48459791G>ACA483559035RB1c.2064G>A (p.Leu688=)
c.194+78348G>A
c.1803G>A (p.Leu601=)
 ClinVar dbSNP
13g.48459791G>CCA483559036RB1c.2064G>C (p.Leu688=)
c.194+78348G>C
c.1803G>C (p.Leu601=)
 dbSNP
13g.48459791G=CA2090008134RB1c.2064G= (p.Leu688=)
c.194+78348G=
c.1803G= (p.Leu601=)
13g.48459791G>TCA483559037RB1c.2064G>T (p.Leu688=)
c.194+78348G>T
c.1803G>T (p.Leu601=)
13g.48459791_48459800delCA645571619RB1c.2064_2073del (p.Gln689MetfsTer4)
c.194+78348_194+78357del
c.1803_1812del (p.Gln602MetfsTer4)
 COSMIC COSMIC
13g.48459792C>ACA388166879RB1c.2065C>A (p.Gln689Lys)
c.194+78349C>A
c.1804C>A (p.Gln602Lys)
 dbSNP
13g.48459792C=CA2090008138RB1c.2065C= (p.Gln689=)
c.194+78349C=
c.1804C= (p.Gln602=)
13g.48459792C>GCA388166880RB1c.2065C>G (p.Gln689Glu)
c.194+78349C>G
c.1804C>G (p.Gln602Glu)
 dbSNP
13g.48459792C>TCA388166881RB1c.2065C>T (p.Gln689Ter)
c.194+78349C>T
c.1804C>T (p.Gln602Ter)
 ClinVar dbSNP COSMIC COSMIC
13g.48459793A=CA2090008143RB1c.2066A= (p.Gln689=)
c.194+78350A=
c.1805A= (p.Gln602=)
13g.48459793A>CCA388166882RB1c.2066A>C (p.Gln689Pro)
c.194+78350A>C
c.1805A>C (p.Gln602Pro)
13g.48459793A>GCA388166884RB1c.2066A>G (p.Gln689Arg)
c.194+78350A>G
c.1805A>G (p.Gln602Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.48459793A>TCA388166883RB1c.2066A>T (p.Gln689Leu)
c.194+78350A>T
c.1805A>T (p.Gln602Leu)
 dbSNP
13g.48459793_48459806delinsAGAATGAGTATGAACA2090008142RB1c.2066_2079delinsAGAATGAGTATGAA (p.Gln689=)
c.194+78350_194+78363delinsAGAATGAGTATGAA
c.1805_1818delinsAGAATGAGTATGAA (p.Gln602=)
13g.48459794G>ACA483559038RB1c.2067G>A (p.Gln689=)
c.194+78351G>A
c.1806G>A (p.Gln602=)
 dbSNP
13g.48459794G>CCA388166885RB1c.2067G>C (p.Gln689His)
c.194+78351G>C
c.1806G>C (p.Gln602His)
 dbSNP
13g.48459794G>TCA388166886RB1c.2067G>T (p.Gln689His)
c.194+78351G>T
c.1806G>T (p.Gln602His)
13g.48459794_48459806delinsCACCA026419RB1c.2067_2079delinsCAC (p.Gln689HisfsTer4)
c.194+78351_194+78363delinsCAC
c.1806_1818delinsCAC (p.Gln602HisfsTer4)
 ClinVar dbSNP
13g.48459795A>CCA388166887RB1c.2068A>C (p.Asn690His)
c.194+78352A>C
c.1807A>C (p.Asn603His)
13g.48459795A>GCA388166888RB1c.2068A>G (p.Asn690Asp)
c.194+78352A>G
c.1807A>G (p.Asn603Asp)
13g.48459795A>TCA388166889RB1c.2068A>T (p.Asn690Tyr)
c.194+78352A>T
c.1807A>T (p.Asn603Tyr)
13g.48459796A=CA2090008150RB1c.2069A= (p.Asn690=)
c.194+78353A=
c.1808A= (p.Asn603=)
13g.48459796A>CCA388166890RB1c.2069A>C (p.Asn690Thr)
c.194+78353A>C
c.1808A>C (p.Asn603Thr)
13g.48459796A>GCA388166891RB1c.2069A>G (p.Asn690Ser)
c.194+78353A>G
c.1808A>G (p.Asn603Ser)
 ClinVar dbSNP
13g.48459796A>TCA388166892RB1c.2069A>T (p.Asn690Ile)
c.194+78353A>T
c.1808A>T (p.Asn603Ile)
 dbSNP
13g.48459801_48459814delCA2580087606RB1c.2074_2087del (p.Tyr692ArgfsTer24)
c.194+78358_194+78371del
c.1813_1826del (p.Tyr605ArgfsTer24)
 ClinVar
13g.48459797T>ACA388166893RB1c.2070T>A (p.Asn690Lys)
c.194+78354T>A
c.1809T>A (p.Asn603Lys)
 ClinVar dbSNP
13g.48459797T>CCA483559039RB1c.2070T>C (p.Asn690=)
c.194+78354T>C
c.1809T>C (p.Asn603=)
13g.48459797T>GCA388166894RB1c.2070T>G (p.Asn690Lys)
c.194+78354T>G
c.1809T>G (p.Asn603Lys)
 dbSNP
13g.48459797dupCA2695218657RB1c.2070dup (p.Glu691Ter)
c.194+78354dup
c.1809dup (p.Glu604Ter)
13g.48459798G>ACA388166897RB1c.2071G>A (p.Glu691Lys)
c.194+78355G>A
c.1810G>A (p.Glu604Lys)
 ClinVar dbSNP
13g.48459798G>CCA388166896RB1c.2071G>C (p.Glu691Gln)
c.194+78355G>C
c.1810G>C (p.Glu604Gln)
 dbSNP
13g.48459798G=CA2090008154RB1c.2071G= (p.Glu691=)
c.194+78355G=
c.1810G= (p.Glu604=)
13g.48459798G>TCA388166895RB1c.2071G>T (p.Glu691Ter)
c.194+78355G>T
c.1810G>T (p.Glu604Ter)
 dbSNP
13g.48459799delCA2695218658RB1c.2072del (p.Glu691GlyfsTer5)
c.194+78356del
c.1811del (p.Glu604GlyfsTer5)
13g.48459799A>CCA388166898RB1c.2072A>C (p.Glu691Ala)
c.194+78356A>C
c.1811A>C (p.Glu604Ala)
13g.48459799A>GCA388166899RB1c.2072A>G (p.Glu691Gly)
c.194+78356A>G
c.1811A>G (p.Glu604Gly)
 dbSNP
13g.48459799A>TCA388166900RB1c.2072A>T (p.Glu691Val)
c.194+78356A>T
c.1811A>T (p.Glu604Val)
 dbSNP
13g.48459799_48459802delCA2695218659RB1c.2072_2075del (p.Glu691ValfsTer4)
c.194+78356_194+78359del
c.1811_1814del (p.Glu604ValfsTer4)
13g.48459800delCA2695218660RB1c.2073del (p.Glu691AspfsTer5)
c.194+78357del
c.1812del (p.Glu604AspfsTer5)
13g.48459800G>ACA483559040RB1c.2073G>A (p.Glu691=)
c.194+78357G>A
c.1812G>A (p.Glu604=)
 ClinVar dbSNP
13g.48459800G>CCA388166901RB1c.2073G>C (p.Glu691Asp)
c.194+78357G>C
c.1812G>C (p.Glu604Asp)
 dbSNP
13g.48459800G>TCA388166902RB1c.2073G>T (p.Glu691Asp)
c.194+78357G>T
c.1812G>T (p.Glu604Asp)
13g.48459801T>ACA388166903RB1c.2074T>A (p.Tyr692Asn)
c.194+78358T>A
c.1813T>A (p.Tyr605Asn)
 dbSNP gnomAD v4
13g.48459801T>CCA388166904RB1c.2074T>C (p.Tyr692His)
c.194+78358T>C
c.1813T>C (p.Tyr605His)
 gnomAD v4
13g.48459801T>GCA388166905RB1c.2074T>G (p.Tyr692Asp)
c.194+78358T>G
c.1813T>G (p.Tyr605Asp)
13g.48459802A=CA2090008156RB1c.2075A= (p.Tyr692=)
c.194+78359A=
c.1814A= (p.Tyr605=)
13g.48459802A>CCA388166906RB1c.2075A>C (p.Tyr692Ser)
c.194+78359A>C
c.1814A>C (p.Tyr605Ser)
13g.48459802A>GCA388166907RB1c.2075A>G (p.Tyr692Cys)
c.194+78359A>G
c.1814A>G (p.Tyr605Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.48459802A>TCA388166908RB1c.2075A>T (p.Tyr692Phe)
c.194+78359A>T
c.1814A>T (p.Tyr605Phe)
 dbSNP
13g.48459803T>ACA388166909RB1c.2076T>A (p.Tyr692Ter)
c.194+78360T>A
c.1815T>A (p.Tyr605Ter)
 dbSNP
13g.48459803T>CCA16614321RB1c.2076T>C (p.Tyr692=)
c.194+78360T>C
c.1815T>C (p.Tyr605=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.48459803T>GCA388166910RB1c.2076T>G (p.Tyr692Ter)
c.194+78360T>G
c.1815T>G (p.Tyr605Ter)
13g.48459803T=CA2090008160RB1c.2076T= (p.Tyr692=)
c.194+78360T=
c.1815T= (p.Tyr605=)
13g.48459804delCA483559041RB1c.2077del (p.Glu693AsnfsTer3)
c.194+78361del
c.1816del (p.Glu606AsnfsTer3)
 COSMIC
13g.48459804G>ACA388166912RB1c.2077G>A (p.Glu693Lys)
c.194+78361G>A
c.1816G>A (p.Glu606Lys)
 dbSNP
13g.48459804G>CCA388166913RB1c.2077G>C (p.Glu693Gln)
c.194+78361G>C
c.1816G>C (p.Glu606Gln)
 dbSNP
13g.48459804G>TCA388166911RB1c.2077G>T (p.Glu693Ter)
c.194+78361G>T
c.1816G>T (p.Glu606Ter)
 COSMIC COSMIC
13g.48459805A=CA2090008164RB1c.2078A= (p.Glu693=)
c.194+78362A=
c.1817A= (p.Glu606=)
13g.48459805A>CCA388166914RB1c.2078A>C (p.Glu693Ala)
c.194+78362A>C
c.1817A>C (p.Glu606Ala)
13g.48459805A>GCA033921RB1c.2078A>G (p.Glu693Gly)
c.194+78362A>G
c.1817A>G (p.Glu606Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.48459805A>TCA388166915RB1c.2078A>T (p.Glu693Val)
c.194+78362A>T
c.1817A>T (p.Glu606Val)
 ClinVar dbSNP
13g.48459806A=CA2090008168RB1c.2079A= (p.Glu693=)
c.194+78363A=
c.1818A= (p.Glu606=)
13g.48459806A>CCA388166916RB1c.2079A>C (p.Glu693Asp)
c.194+78363A>C
c.1818A>C (p.Glu606Asp)
 dbSNP
13g.48459806A>GCA483559042RB1c.2079A>G (p.Glu693=)
c.194+78363A>G
c.1818A>G (p.Glu606=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
13g.48459806A>TCA388166917RB1c.2079A>T (p.Glu693Asp)
c.194+78363A>T
c.1818A>T (p.Glu606Asp)
 dbSNP
13g.48459807C>ACA388166918RB1c.2080C>A (p.Leu694Ile)
c.194+78364C>A
c.1819C>A (p.Leu607Ile)
 dbSNP
13g.48459807C>GCA388166919RB1c.2080C>G (p.Leu694Val)
c.194+78364C>G
c.1819C>G (p.Leu607Val)
 dbSNP
13g.48459807C>TCA388166920RB1c.2080C>T (p.Leu694Phe)
c.194+78364C>T
c.1819C>T (p.Leu607Phe)
 dbSNP
13g.48459808T>ACA388166921RB1c.2081T>A (p.Leu694His)
c.194+78365T>A
c.1820T>A (p.Leu607His)
 dbSNP gnomAD v4
13g.48459808T>CCA388166922RB1c.2081T>C (p.Leu694Pro)
c.194+78365T>C
c.1820T>C (p.Leu607Pro)
 gnomAD v4
13g.48459808T>GCA388166923RB1c.2081T>G (p.Leu694Arg)
c.194+78365T>G
c.1820T>G (p.Leu607Arg)
 gnomAD v4
13g.48459809C>ACA483559043RB1c.2082C>A (p.Leu694=)
c.194+78366C>A
c.1821C>A (p.Leu607=)
 dbSNP
13g.48459809C=CA2090008171RB1c.2082C= (p.Leu694=)
c.194+78366C=
c.1821C= (p.Leu607=)
13g.48459809C>GCA033965RB1c.2082C>G (p.Leu694=)
c.194+78366C>G
c.1821C>G (p.Leu607=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.48459809C>TCA483559044RB1c.2082C>T (p.Leu694=)
c.194+78366C>T
c.1821C>T (p.Leu607=)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
13g.48459810A=CA2090008174RB1c.2083A= (p.Met695=)
c.194+78367A=
c.1822A= (p.Met608=)
13g.48459810A>CCA388166924RB1c.2083A>C (p.Met695Leu)
c.194+78367A>C
c.1822A>C (p.Met608Leu)
 dbSNP gnomAD v4
13g.48459810A>GCA388166925RB1c.2083A>G (p.Met695Val)
c.194+78367A>G
c.1822A>G (p.Met608Val)
 dbSNP COSMIC
13g.48459810A>TCA388166926RB1c.2083A>T (p.Met695Leu)
c.194+78367A>T
c.1822A>T (p.Met608Leu)
 ClinVar dbSNP
13g.48459810dupCA913189236RB1c.2083dup (p.Met695AsnfsTer26)
c.194+78367dup
c.1822dup (p.Met608AsnfsTer26)
13g.48459811delCA483559045RB1c.2084del (p.Met695ArgfsTer10)
c.194+78368del
c.1823del (p.Met608ArgfsTer10)
 COSMIC
13g.48459811T>ACA388166927RB1c.2084T>A (p.Met695Lys)
c.194+78368T>A
c.1823T>A (p.Met608Lys)
 ClinVar dbSNP COSMIC COSMIC
13g.48459811T>CCA388166928RB1c.2084T>C (p.Met695Thr)
c.194+78368T>C
c.1823T>C (p.Met608Thr)
13g.48459811T>GCA026420RB1c.2084T>G (p.Met695Arg)
c.194+78368T>G
c.1823T>G (p.Met608Arg)
 ClinVar dbSNP
13g.48459811T=CA2090008178RB1c.2084T= (p.Met695=)
c.194+78368T=
c.1823T= (p.Met608=)
13g.48459812G>ACA388166929RB1c.2085G>A (p.Met695Ile)
c.194+78369G>A
c.1824G>A (p.Met608Ile)
 dbSNP gnomAD v2 gnomAD v4
13g.48459812G>CCA388166931RB1c.2085G>C (p.Met695Ile)
c.194+78369G>C
c.1824G>C (p.Met608Ile)
 dbSNP
13g.48459812G=CA2090008181RB1c.2085G= (p.Met695=)
c.194+78369G=
c.1824G= (p.Met608=)
13g.48459812G>TCA388166930RB1c.2085G>T (p.Met695Ile)
c.194+78369G>T
c.1824G>T (p.Met608Ile)
 dbSNP
13g.48459816_48459817delCA645571620RB1c.2089_2090del (p.Asp697GlnfsTer23)
c.194+78373_194+78374del
c.1828_1829del (p.Asp610GlnfsTer23)
 COSMIC
13g.48459814_48459817delCA2695218662RB1c.2087_2090del (p.Arg696ThrfsTer8)
c.194+78371_194+78374del
c.1826_1829del (p.Arg609ThrfsTer8)
13g.48459813A>CCA483559046RB1c.2086A>C (p.Arg696=)
c.194+78370A>C
c.1825A>C (p.Arg609=)
13g.48459813A>GCA388166932RB1c.2086A>G (p.Arg696Gly)
c.194+78370A>G
c.1825A>G (p.Arg609Gly)
 dbSNP
13g.48459813A>TCA388166933RB1c.2086A>T (p.Arg696Ter)
c.194+78370A>T
c.1825A>T (p.Arg609Ter)
 dbSNP
13g.48459814G>ACA388166934RB1c.2087G>A (p.Arg696Lys)
c.194+78371G>A
c.1826G>A (p.Arg609Lys)
 dbSNP
13g.48459814G>CCA388166935RB1c.2087G>C (p.Arg696Thr)
c.194+78371G>C
c.1826G>C (p.Arg609Thr)
 dbSNP
13g.48459814G>TCA388166936RB1c.2087G>T (p.Arg696Ile)
c.194+78371G>T
c.1826G>T (p.Arg609Ile)
13g.48459815delCA2695218663RB1c.2088del (p.Asp697ThrfsTer8)
c.194+78372del
c.1827del (p.Asp610ThrfsTer8)
13g.48459815A>CCA388166937RB1c.2088A>C (p.Arg696Ser)
c.194+78372A>C
c.1827A>C (p.Arg609Ser)
13g.48459815A>GCA483559047RB1c.2088A>G (p.Arg696=)
c.194+78372A>G
c.1827A>G (p.Arg609=)
 dbSNP
13g.48459815A>TCA388166938RB1c.2088A>T (p.Arg696Ser)
c.194+78372A>T
c.1827A>T (p.Arg609Ser)
 dbSNP
13g.48459816G>ACA388166939RB1c.2089G>A (p.Asp697Asn)
c.194+78373G>A
c.1828G>A (p.Asp610Asn)
 dbSNP
13g.48459816G>CCA388166940RB1c.2089G>C (p.Asp697His)
c.194+78373G>C
c.1828G>C (p.Asp610His)
 dbSNP gnomAD v2 gnomAD v4
13g.48459816G=CA2090008184RB1c.2089G= (p.Asp697=)
c.194+78373G=
c.1828G= (p.Asp610=)
13g.48459816G>TCA388166941RB1c.2089G>T (p.Asp697Tyr)
c.194+78373G>T
c.1828G>T (p.Asp610Tyr)
13g.48459817A>CCA388166944RB1c.2090A>C (p.Asp697Ala)
c.194+78374A>C
c.1829A>C (p.Asp610Ala)
 dbSNP
13g.48459817A>GCA388166943RB1c.2090A>G (p.Asp697Gly)
c.194+78374A>G
c.1829A>G (p.Asp610Gly)
 dbSNP
13g.48459817A>TCA388166942RB1c.2090A>T (p.Asp697Val)
c.194+78374A>T
c.1829A>T (p.Asp610Val)
 dbSNP
13g.48459818delCA2573332678RB1c.2091del (p.Asp697GlufsTer8)
c.194+78375del
c.1830del (p.Asp610GlufsTer8)
13g.48459818C>ACA388166945RB1c.2091C>A (p.Asp697Glu)
c.194+78375C>A
c.1830C>A (p.Asp610Glu)
13g.48459818C=CA2018068533RB1c.2091C= (p.Asp697=)
c.194+78375C=
c.1830C= (p.Asp610=)
13g.48459818C>GCA033984RB1c.2091C>G (p.Asp697Glu)
c.194+78375C>G
c.1830C>G (p.Asp610Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48459818C>TCA483559048RB1c.2091C>T (p.Asp697=)
c.194+78375C>T
c.1830C>T (p.Asp610=)
 ClinVar dbSNP gnomAD v4
13g.48459819A>CCA483559049RB1c.2092A>C (p.Arg698=)
c.194+78376A>C
c.1831A>C (p.Arg611=)
13g.48459819A>GCA388166946RB1c.2092A>G (p.Arg698Gly)
c.194+78376A>G
c.1831A>G (p.Arg611Gly)
 dbSNP
13g.48459819A>TCA388166947RB1c.2092A>T (p.Arg698Trp)
c.194+78376A>T
c.1831A>T (p.Arg611Trp)
 dbSNP COSMIC COSMIC
13g.48459820G>ACA388166948RB1c.2093G>A (p.Arg698Lys)
c.194+78377G>A
c.1832G>A (p.Arg611Lys)
 dbSNP
13g.48459820G>CCA388166949RB1c.2093G>C (p.Arg698Thr)
c.194+78377G>C
c.1832G>C (p.Arg611Thr)
 ClinVar dbSNP
13g.48459820G>TCA388166950RB1c.2093G>T (p.Arg698Met)
c.194+78377G>T
c.1832G>T (p.Arg611Met)
 dbSNP
13g.48459821G>ACA483559050RB1c.2094G>A (p.Arg698=)
c.194+78378G>A
c.1833G>A (p.Arg611=)
 dbSNP
13g.48459821G>CCA388166951RB1c.2094G>C (p.Arg698Ser)
c.194+78378G>C
c.1833G>C (p.Arg611Ser)
 ClinVar dbSNP
13g.48459821G=CA2090008191RB1c.2094G= (p.Arg698=)
c.194+78378G=
c.1833G= (p.Arg611=)
13g.48459821G>TCA388166952RB1c.2094G>T (p.Arg698Ser)
c.194+78378G>T
c.1833G>T (p.Arg611Ser)
13g.48459822C>ACA388166953RB1c.2095C>A (p.His699Asn)
c.194+78379C>A
c.1834C>A (p.His612Asn)
 dbSNP
13g.48459822C>GCA388166954RB1c.2095C>G (p.His699Asp)
c.194+78379C>G
c.1834C>G (p.His612Asp)
 dbSNP
13g.48459822C>TCA388166955RB1c.2095C>T (p.His699Tyr)
c.194+78379C>T
c.1834C>T (p.His612Tyr)
 dbSNP gnomAD v4
13g.48459823A>CCA388166958RB1c.2096A>C (p.His699Pro)
c.194+78380A>C
c.1835A>C (p.His612Pro)
 dbSNP
13g.48459823A>GCA388166956RB1c.2096A>G (p.His699Arg)
c.194+78380A>G
c.1835A>G (p.His612Arg)
13g.48459823A>TCA388166957RB1c.2096A>T (p.His699Leu)
c.194+78380A>T
c.1835A>T (p.His612Leu)
 dbSNP
13g.48459824T>ACA388166959RB1c.2097T>A (p.His699Gln)
c.194+78381T>A
c.1836T>A (p.His612Gln)
 ClinVar dbSNP
13g.48459824T>CCA483559051RB1c.2097T>C (p.His699=)
c.194+78381T>C
c.1836T>C (p.His612=)
13g.48459824T>GCA388166960RB1c.2097T>G (p.His699Gln)
c.194+78381T>G
c.1836T>G (p.His612Gln)
13g.48459824T=CA2090008194RB1c.2097T= (p.His699=)
c.194+78381T=
c.1836T= (p.His612=)
13g.48459826dupCA2580087610RB1c.2099dup (p.Leu700PhefsTer21)
c.194+78383dup
c.1838dup (p.Leu613PhefsTer21)
 ClinVar
13g.48459825T>ACA388166961RB1c.2098T>A (p.Leu700Met)
c.194+78382T>A
c.1837T>A (p.Leu613Met)
 dbSNP
13g.48459825T>CCA483559052RB1c.2098T>C (p.Leu700=)
c.194+78382T>C
c.1837T>C (p.Leu613=)
13g.48459825T>GCA388166962RB1c.2098T>G (p.Leu700Val)
c.194+78382T>G
c.1837T>G (p.Leu613Val)
 dbSNP gnomAD v4
13g.48459826T>ACA388166963RB1c.2099T>A (p.Leu700Ter)
c.194+78383T>A
c.1838T>A (p.Leu613Ter)
 dbSNP
13g.48459826T>CCA388166964RB1c.2099T>C (p.Leu700Ser)
c.194+78383T>C
c.1838T>C (p.Leu613Ser)
 dbSNP
13g.48459826T>GCA388166965RB1c.2099T>G (p.Leu700Trp)
c.194+78383T>G
c.1838T>G (p.Leu613Trp)
13g.48459827G>ACA483559053RB1c.2100G>A (p.Leu700=)
c.194+78384G>A
c.1839G>A (p.Leu613=)
 dbSNP
13g.48459827G>CCA388166966RB1c.2100G>C (p.Leu700Phe)
c.194+78384G>C
c.1839G>C (p.Leu613Phe)
 dbSNP
13g.48459827G=CA2090008198RB1c.2100G= (p.Leu700=)
c.194+78384G=
c.1839G= (p.Leu613=)
13g.48459827G>TCA388166967RB1c.2100G>T (p.Leu700Phe)
c.194+78384G>T
c.1839G>T (p.Leu613Phe)
 dbSNP
13g.48459828G>ACA026421RB1c.2101G>A (p.Asp701Asn)
c.194+78385G>A
c.1840G>A (p.Asp614Asn)
 ClinVar dbSNP COSMIC COSMIC
13g.48459828G>CCA388166968RB1c.2101G>C (p.Asp701His)
c.194+78385G>C
c.1840G>C (p.Asp614His)
 dbSNP
13g.48459828G=CA2090008204RB1c.2101G= (p.Asp701=)
c.194+78385G=
c.1840G= (p.Asp614=)
13g.48459828G>TCA388166969RB1c.2101G>T (p.Asp701Tyr)
c.194+78385G>T
c.1840G>T (p.Asp614Tyr)
13g.48459829A>CCA388166971RB1c.2102A>C (p.Asp701Ala)
c.194+78386A>C
c.1841A>C (p.Asp614Ala)
 ClinVar
13g.48459829A>GCA388166972RB1c.2102A>G (p.Asp701Gly)
c.194+78386A>G
c.1841A>G (p.Asp614Gly)
13g.48459829A>TCA388166970RB1c.2102A>T (p.Asp701Val)
c.194+78386A>T
c.1841A>T (p.Asp614Val)
13g.48459830_48459842delCA645571621RB1c.2103_2106+9del
c.194+78387_194+78399del
c.1842_1845+9del
 COSMIC
13g.48459830C>ACA388166974RB1c.2103C>A (p.Asp701Glu)
c.194+78387C>A
c.1842C>A (p.Asp614Glu)
 dbSNP
13g.48459830C>GCA388166973RB1c.2103C>G (p.Asp701Glu)
c.194+78387C>G
c.1842C>G (p.Asp614Glu)
13g.48459830C>TCA483559054RB1c.2103C>T (p.Asp701=)
c.194+78387C>T
c.1842C>T (p.Asp614=)
 dbSNP gnomAD v4
13g.48459831delCA2728090172RB1c.2104del (p.Gln702LysfsTer3)
c.194+78388del
c.1843del (p.Gln615LysfsTer3)
 dbSNP
13g.48459831C>ACA388166975RB1c.2104C>A (p.Gln702Lys)
c.194+78388C>A
c.1843C>A (p.Gln615Lys)
 dbSNP COSMIC
13g.48459831C=CA2090008208RB1c.2104C= (p.Gln702=)
c.194+78388C=
c.1843C= (p.Gln615=)
13g.48459831C>GCA388166976RB1c.2104C>G (p.Gln702Glu)
c.194+78388C>G
c.1843C>G (p.Gln615Glu)
 dbSNP
13g.48459831C>TCA388166977RB1c.2104C>T (p.Gln702Ter)
c.194+78388C>T
c.1843C>T (p.Gln615Ter)
 ClinVar dbSNP COSMIC COSMIC
13g.48459832A=CA2090008213RB1c.2105A= (p.Gln702=)
c.194+78389A=
c.1844A= (p.Gln615=)
13g.48459832A>CCA388166978RB1c.2105A>C (p.Gln702Pro)
c.194+78389A>C
c.1844A>C (p.Gln615Pro)
13g.48459832A>GCA388166979RB1c.2105A>G (p.Gln702Arg)
c.194+78389A>G
c.1844A>G (p.Gln615Arg)
 ClinVar dbSNP
13g.48459832A>TCA388166980RB1c.2105A>T (p.Gln702Leu)
c.194+78389A>T
c.1844A>T (p.Gln615Leu)
 dbSNP
13g.48459835_48459838delCA2695218664RB1c.2106+2_2106+5del
c.194+78392_194+78395del
c.1845+2_1845+5del
13g.48459833A>CCA388166981RB1c.2106A>C (p.Gln702His)
c.194+78390A>C
c.1845A>C (p.Gln615His)
13g.48459833A>GCA483559055RB1c.2106A>G (p.Gln702=)
c.194+78390A>G
c.1845A>G (p.Gln615=)
13g.48459833A>TCA388166982RB1c.2106A>T (p.Gln702His)
c.194+78390A>T
c.1845A>T (p.Gln615His)
 dbSNP
13g.48459834delCA2695218665RB1c.2106+1del (n.2106+1del)
c.194+78391del
c.1845+1del (n.1845+1del)
13g.48459834G>ACA388166983RB1c.2106+1G>A (n.2106+1G>A)
c.194+78391G>A
c.1845+1G>A (n.1845+1G>A)
 ClinVar dbSNP COSMIC
13g.48459834G>CCA388166984RB1c.2106+1G>C (n.2106+1G>C)
c.194+78391G>C
c.1845+1G>C (n.1845+1G>C)
 ClinVar dbSNP
13g.48459834G=CA2090008218RB1c.2106+1G= (n.2106+1G=)
c.194+78391G=
c.1845+1G= (n.1845+1G=)
13g.48459834G>TCA388166985RB1c.2106+1G>T (n.2106+1G>T)
c.194+78391G>T
c.1845+1G>T (n.1845+1G>T)
 dbSNP COSMIC COSMIC
13g.48459835T>ACA388166988RB1c.2106+2T>A (n.2106+2T>A)
c.194+78392T>A
c.1845+2T>A (n.1845+2T>A)
 ClinVar dbSNP
13g.48459835T>CCA388166987RB1c.2106+2T>C (n.2106+2T>C)
c.194+78392T>C
c.1845+2T>C (n.1845+2T>C)
 ClinVar dbSNP
13g.48459835T>GCA388166986RB1c.2106+2T>G (n.2106+2T>G)
c.194+78392T>G
c.1845+2T>G (n.1845+2T>G)
 COSMIC
13g.48459835T=CA2090008224RB1c.2106+2T= (n.2106+2T=)
c.194+78392T=
c.1845+2T= (n.1845+2T=)
13g.48459836A=CA2090008230RB1c.2106+3A= (n.2106+3A=)
c.194+78393A=
c.1845+3A= (n.1845+3A=)
13g.48459836A>GCA698682465RB1c.2106+3A>G (n.2106+3A>G)
c.194+78393A>G
c.1845+3A>G (n.1845+3A>G)
 ClinVar dbSNP gnomAD v4
13g.48459838_48459840delCA2799108237RB1c.2106+5_2106+7del (n.2106+5_2106+7del)
c.194+78395_194+78397del
c.1845+5_1845+7del (n.1845+5_1845+7del)
13g.48459838G>ACA2622985098RB1c.2106+5G>A (n.2106+5G>A)
c.194+78395G>A
c.1845+5G>A (n.1845+5G>A)
 gnomAD v4
13g.48459838G>CCA2728090176RB1c.2106+5G>C (n.2106+5G>C)
c.194+78395G>C
c.1845+5G>C (n.1845+5G>C)
 dbSNP
13g.48459838_48459839delinsGACA2090008232RB1c.2106+5_2106+6delinsGA (n.2106+5_2106+6delinsGA)
c.194+78395_194+78396delinsGA
c.1845+5_1845+6delinsGA (n.1845+5_1845+6delinsGA)
13g.48459842delCA034167RB1c.2106+9del (n.2106+9del)
c.194+78399del
c.1845+9del (n.1845+9del)
 dbSNP ExAC gnomAD v2
13g.48459841A=CA2090008236RB1c.2106+8A= (n.2106+8A=)
c.194+78398A=
c.1845+8A= (n.1845+8A=)
13g.48459841A>GCA034188RB1c.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
13g.48459841A>TCA698682474RB1c.2106+8A>T (n.2106+8A>T)
c.194+78398A>T
c.1845+8A>T (n.1845+8A>T)
 ClinVar dbSNP gnomAD v4
13g.48459842A=CA2090008239RB1c.2106+9A= (n.2106+9A=)
c.194+78399A=
c.1845+9A= (n.1845+9A=)
13g.48459842A>CCA2728090179RB1c.2106+9A>C (n.2106+9A>C)
c.194+78399A>C
c.1845+9A>C (n.1845+9A>C)
 dbSNP
13g.48459842A>TCA2728090178RB1c.2106+9A>T (n.2106+9A>T)
c.194+78399A>T
c.1845+9A>T (n.1845+9A>T)
 dbSNP
13g.48459843T>ACA2728090183RB1c.2106+10T>A (n.2106+10T>A)
c.194+78400T>A
c.1845+10T>A (n.1845+10T>A)
 dbSNP
13g.48459844_48459851dupCA2090008241RB1c.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
13g.48459844C>GCA2728090186RB1c.2106+11C>G (n.2106+11C>G)
c.194+78401C>G
c.1845+11C>G (n.1845+11C>G)
 dbSNP
13g.48459845A=CA2090008242RB1c.2106+12A= (n.2106+12A=)
c.194+78402A=
c.1845+12A= (n.1845+12A=)
13g.48459845A>CCA955785578RB1c.2106+12A>C (n.2106+12A>C)
c.194+78402A>C
c.1845+12A>C (n.1845+12A>C)
 dbSNP gnomAD v3 gnomAD v4
13g.48459845A>GCA2727891534RB1c.2106+12A>G (n.2106+12A>G)
c.194+78402A>G
c.1845+12A>G (n.1845+12A>G)
 dbSNP
13g.48459845A>TCA2727891535RB1c.2106+12A>T (n.2106+12A>T)
c.194+78402A>T
c.1845+12A>T (n.1845+12A>T)
 dbSNP
13g.48459846A>GCA2728090187RB1c.2106+13A>G (n.2106+13A>G)
c.194+78403A>G
c.1845+13A>G (n.1845+13A>G)
 dbSNP
13g.48459846A>TCA2728090188RB1c.2106+13A>T (n.2106+13A>T)
c.194+78403A>T
c.1845+13A>T (n.1845+13A>T)
 dbSNP
13g.48459847G>ACA2573149593RB1c.2106+14G>A (n.2106+14G>A)
c.194+78404G>A
c.1845+14G>A (n.1845+14G>A)
 ClinVar dbSNP
13g.48459847G=CA2090008243RB1c.2106+14G= (n.2106+14G=)
c.194+78404G=
c.1845+14G= (n.1845+14G=)
13g.48459847G>TCA033996RB1c.2106+14G>T (n.2106+14G>T)
c.194+78404G>T
c.1845+14G>T (n.1845+14G>T)
 ClinVar dbSNP ExAC gnomAD v4
13g.48459848C>ACA2727856456RB1c.2106+15C>A (n.2106+15C>A)
c.194+78405C>A
c.1845+15C>A (n.1845+15C>A)
 dbSNP
13g.48459848C=CA2090008244RB1c.2106+15C= (n.2106+15C=)
c.194+78405C=
c.1845+15C= (n.1845+15C=)
13g.48459848C>GCA609584671RB1c.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
13g.48459848C>TCA2622985099RB1c.2106+15C>T (n.2106+15C>T)
c.194+78405C>T
c.1845+15C>T (n.1845+15C>T)
 dbSNP gnomAD v4
13g.48459849A>CCA2622985101RB1c.2106+16A>C (n.2106+16A>C)
c.194+78406A>C
c.1845+16A>C (n.1845+16A>C)
 ClinVar dbSNP gnomAD v4
13g.48459849A>GCA2622985100RB1c.2106+16A>G (n.2106+16A>G)
c.194+78406A>G
c.1845+16A>G (n.1845+16A>G)
 gnomAD v4
13g.48459849A>TCA2580087612RB1c.2106+16A>T (n.2106+16A>T)
c.194+78406A>T
c.1845+16A>T (n.1845+16A>T)
 ClinVar dbSNP gnomAD v4
13g.48459850C>ACA2697551908RB1c.2106+17C>A (n.2106+17C>A)
c.194+78407C>A
c.1845+17C>A (n.1845+17C>A)
 ClinVar dbSNP
13g.48459850C>GCA2575413692RB1c.2106+17C>G (n.2106+17C>G)
c.194+78407C>G
c.1845+17C>G (n.1845+17C>G)
 ClinVar dbSNP gnomAD v4

Number of alleles fetched