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.48459776_48459790delCA2695218648RB1c.2049_2063del (p.Phe684_Leu688del)
c.194+78333_194+78347del
c.1788_1802del (p.Phe597_Leu601del)
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.48459789_48459790delinsGGCA2831039808RB1c.2062_2063delinsGG (p.Leu688Gly)
c.194+78346_194+78347delinsGG
c.1801_1802delinsGG (p.Leu601Gly)
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.48459806dupCA2837995365RB1c.2079dup (p.Leu694ThrfsTer27)
c.194+78363dup
c.1818dup (p.Leu607ThrfsTer27)
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.48459821delCA2831039809RB1c.2094del (p.Arg698SerfsTer7)
c.194+78378del
c.1833del (p.Arg611SerfsTer7)
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
13g.48459851T>ACA2728090195RB1c.2106+18T>A (n.2106+18T>A)
c.194+78408T>A
c.1845+18T>A (n.1845+18T>A)
 dbSNP
13g.48459851T>CCA2728090193RB1c.2106+18T>C (n.2106+18T>C)
c.194+78408T>C
c.1845+18T>C (n.1845+18T>C)
 dbSNP
13g.48459851T>GCA2580087613RB1c.2106+18T>G (n.2106+18T>G)
c.194+78408T>G
c.1845+18T>G (n.1845+18T>G)
 ClinVar
13g.48459852T>ACA2573149594RB1c.2106+19T>A (n.2106+19T>A)
c.194+78409T>A
c.1845+19T>A (n.1845+19T>A)
 ClinVar dbSNP
13g.48459852T>GCA2580087614RB1c.2106+19T>G (n.2106+19T>G)
c.194+78409T>G
c.1845+19T>G (n.1845+19T>G)
 ClinVar
13g.48459853C=CA2090008245RB1c.2106+20C= (n.2106+20C=)
c.194+78410C=
c.1845+20C= (n.1845+20C=)
13g.48459853C>GCA2622985102RB1c.2106+20C>G (n.2106+20C>G)
c.194+78410C>G
c.1845+20C>G (n.1845+20C>G)
 dbSNP gnomAD v4
13g.48459853C>TCA2090008246RB1c.2106+20C>T (n.2106+20C>T)
c.194+78410C>T
c.1845+20C>T (n.1845+20C>T)
 dbSNP
13g.48459854A=CA2090008248RB1c.2106+21A= (n.2106+21A=)
c.194+78411A=
c.1845+21A= (n.1845+21A=)
13g.48459854A>CCA2727840579RB1c.2106+21A>C (n.2106+21A>C)
c.194+78411A>C
c.1845+21A>C (n.1845+21A>C)
 dbSNP
13g.48459854A>GCA034012RB1c.2106+21A>G (n.2106+21A>G)
c.194+78411A>G
c.1845+21A>G (n.1845+21A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.48459854A>TCA2727840578RB1c.2106+21A>T (n.2106+21A>T)
c.194+78411A>T
c.1845+21A>T (n.1845+21A>T)
 dbSNP
13g.48459855C>ACA2622985103RB1c.2106+22C>A (n.2106+22C>A)
c.194+78412C>A
c.1845+22C>A (n.1845+22C>A)
 dbSNP gnomAD v4
13g.48459855C=CA2090008251RB1c.2106+22C= (n.2106+22C=)
c.194+78412C=
c.1845+22C= (n.1845+22C=)
13g.48459855C>GCA2622985104RB1c.2106+22C>G (n.2106+22C>G)
c.194+78412C>G
c.1845+22C>G (n.1845+22C>G)
 dbSNP gnomAD v4
13g.48459855C>TCA034030RB1c.2106+22C>T (n.2106+22C>T)
c.194+78412C>T
c.1845+22C>T (n.1845+22C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48459856C>ACA2622985105RB1c.2106+23C>A (n.2106+23C>A)
c.194+78413C>A
c.1845+23C>A (n.1845+23C>A)
 dbSNP gnomAD v4
13g.48459856C=CA2090008253RB1c.2106+23C= (n.2106+23C=)
c.194+78413C=
c.1845+23C= (n.1845+23C=)
13g.48459856C>TCA034043RB1c.2106+23C>T (n.2106+23C>T)
c.194+78413C>T
c.1845+23C>T (n.1845+23C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48459857T>ACA2727836821RB1c.2106+24T>A (n.2106+24T>A)
c.194+78414T>A
c.1845+24T>A (n.1845+24T>A)
 dbSNP
13g.48459857T>GCA034052RB1c.2106+24T>G (n.2106+24T>G)
c.194+78414T>G
c.1845+24T>G (n.1845+24T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48459857T=CA2090008255RB1c.2106+24T= (n.2106+24T=)
c.194+78414T=
c.1845+24T= (n.1845+24T=)
13g.48459859C>GCA2622985106RB1c.2106+26C>G (n.2106+26C>G)
c.194+78416C>G
c.1845+26C>G (n.1845+26C>G)
 dbSNP gnomAD v4
13g.48459860T>CCA2622985107RB1c.2106+27T>C (n.2106+27T>C)
c.194+78417T>C
c.1845+27T>C (n.1845+27T>C)
 gnomAD v4
13g.48459861C>ACA2622985108RB1c.2106+28C>A (n.2106+28C>A)
c.194+78418C>A
c.1845+28C>A (n.1845+28C>A)
 dbSNP gnomAD v4
13g.48459861C=CA2090008257RB1c.2106+28C= (n.2106+28C=)
c.194+78418C=
c.1845+28C= (n.1845+28C=)
13g.48459861C>GCA2727877243RB1c.2106+28C>G (n.2106+28C>G)
c.194+78418C>G
c.1845+28C>G (n.1845+28C>G)
 dbSNP
13g.48459861C>TCA2090008258RB1c.2106+28C>T (n.2106+28C>T)
c.194+78418C>T
c.1845+28C>T (n.1845+28C>T)
 dbSNP
13g.48459862T>CCA2575413693RB1c.2106+29T>C (n.2106+29T>C)
c.194+78419T>C
c.1845+29T>C (n.1845+29T>C)
13g.48459862_48459866delinsTCCTCCA2090008259RB1c.2106+29_2106+33delinsTCCTC (n.2106+29_2106+33delinsTCCTC)
c.194+78419_194+78423delinsTCCTC
c.1845+29_1845+33delinsTCCTC (n.1845+29_1845+33delinsTCCTC)
13g.48459863C>ACA609584674RB1c.2106+30C>A (n.2106+30C>A)
c.194+78420C>A
c.1845+30C>A (n.1845+30C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.48459863C=CA2090008262RB1c.2106+30C= (n.2106+30C=)
c.194+78420C=
c.1845+30C= (n.1845+30C=)
13g.48459863C>GCA2727870848RB1c.2106+30C>G (n.2106+30C>G)
c.194+78420C>G
c.1845+30C>G (n.1845+30C>G)
 dbSNP
13g.48459863C>TCA2622985109RB1c.2106+30C>T (n.2106+30C>T)
c.194+78420C>T
c.1845+30C>T (n.1845+30C>T)
 dbSNP gnomAD v4
13g.48459866_48459869delCA2090008261RB1c.2106+33_2106+36del (n.2106+33_2106+36del)
c.194+78423_194+78426del
c.1845+33_1845+36del (n.1845+33_1845+36del)
 dbSNP gnomAD v4
13g.48459864C>ACA2622985110RB1c.2106+31C>A (n.2106+31C>A)
c.194+78421C>A
c.1845+31C>A (n.1845+31C>A)
 dbSNP gnomAD v4
13g.48459864C=CA2090008264RB1c.2106+31C= (n.2106+31C=)
c.194+78421C=
c.1845+31C= (n.1845+31C=)
13g.48459864C>TCA034074RB1c.2106+31C>T (n.2106+31C>T)
c.194+78421C>T
c.1845+31C>T (n.1845+31C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48459865T>ACA2799108239RB1c.2106+32T>A (n.2106+32T>A)
c.194+78422T>A
c.1845+32T>A (n.1845+32T>A)
13g.48459865T>GCA249308219RB1c.2106+32T>G (n.2106+32T>G)
c.194+78422T>G
c.1845+32T>G (n.1845+32T>G)
 dbSNP gnomAD v4
13g.48459865T=CA2090008266RB1c.2106+32T= (n.2106+32T=)
c.194+78422T=
c.1845+32T= (n.1845+32T=)
13g.48459866C>ACA2622985111RB1c.2106+33C>A (n.2106+33C>A)
c.194+78423C>A
c.1845+33C>A (n.1845+33C>A)
 dbSNP gnomAD v4
13g.48459866C>GCA2728090202RB1c.2106+33C>G (n.2106+33C>G)
c.194+78423C>G
c.1845+33C>G (n.1845+33C>G)
 dbSNP
13g.48459866C>TCA2728090200RB1c.2106+33C>T (n.2106+33C>T)
c.194+78423C>T
c.1845+33C>T (n.1845+33C>T)
 dbSNP
13g.48459867C>ACA2728090203RB1c.2106+34C>A (n.2106+34C>A)
c.194+78424C>A
c.1845+34C>A (n.1845+34C>A)
 dbSNP
13g.48459867C>GCA2728090204RB1c.2106+34C>G (n.2106+34C>G)
c.194+78424C>G
c.1845+34C>G (n.1845+34C>G)
 dbSNP
13g.48459867C>TCA2622985112RB1c.2106+34C>T (n.2106+34C>T)
c.194+78424C>T
c.1845+34C>T (n.1845+34C>T)
 dbSNP gnomAD v4
13g.48459868C>ACA2622985113RB1c.2106+35C>A (n.2106+35C>A)
c.194+78425C>A
c.1845+35C>A (n.1845+35C>A)
 gnomAD v4
13g.48459868C=CA2090008269RB1c.2106+35C= (n.2106+35C=)
c.194+78425C=
c.1845+35C= (n.1845+35C=)
13g.48459868C>GCA2090008270RB1c.2106+35C>G (n.2106+35C>G)
c.194+78425C>G
c.1845+35C>G (n.1845+35C>G)
 dbSNP
13g.48459868_48459872delinsCTACTCA2090008268RB1c.2106+35_2106+39delinsCTACT (n.2106+35_2106+39delinsCTACT)
c.194+78425_194+78429delinsCTACT
c.1845+35_1845+39delinsCTACT (n.1845+35_1845+39delinsCTACT)
13g.48459869T>ACA2728090207RB1c.2106+36T>A (n.2106+36T>A)
c.194+78426T>A
c.1845+36T>A (n.1845+36T>A)
 dbSNP
13g.48459869T>CCA2728090206RB1c.2106+36T>C (n.2106+36T>C)
c.194+78426T>C
c.1845+36T>C (n.1845+36T>C)
 dbSNP
13g.48459874_48459877delCA034094RB1c.2106+41_2106+44del (n.2106+41_2106+44del)
c.194+78431_194+78434del
c.1845+41_1845+44del (n.1845+41_1845+44del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48459870A>CCA2622985115RB1c.2106+37A>C (n.2106+37A>C)
c.194+78427A>C
c.1845+37A>C (n.1845+37A>C)
 dbSNP gnomAD v4
13g.48459870A>GCA2622985116RB1c.2106+37A>G (n.2106+37A>G)
c.194+78427A>G
c.1845+37A>G (n.1845+37A>G)
 gnomAD v4
13g.48459870A>TCA955785584RB1c.2106+37A>T (n.2106+37A>T)
c.194+78427A>T
c.1845+37A>T (n.1845+37A>T)
 dbSNP gnomAD v3 gnomAD v4
13g.48459870dupCA2622985114RB1c.2106+37dup (n.2106+37dup)
c.194+78427dup
c.1845+37dup (n.1845+37dup)
 gnomAD v4
13g.48459870_48459871delinsACCA2090008272RB1c.2106+37_2106+38delinsAC (n.2106+37_2106+38delinsAC)
c.194+78427_194+78428delinsAC
c.1845+37_1845+38delinsAC (n.1845+37_1845+38delinsAC)
13g.48459871delCA698682498RB1c.2106+38del (n.2106+38del)
c.194+78428del
c.1845+38del (n.1845+38del)
 dbSNP
13g.48459871C>ACA2622985117RB1c.2106+38C>A (n.2106+38C>A)
c.194+78428C>A
c.1845+38C>A (n.1845+38C>A)
 gnomAD v4
13g.48459871C>TCA2799108241RB1c.2106+38C>T (n.2106+38C>T)
c.194+78428C>T
c.1845+38C>T (n.1845+38C>T)
13g.48459872T>CCA2622985118RB1c.2106+39T>C (n.2106+39T>C)
c.194+78429T>C
c.1845+39T>C (n.1845+39T>C)
 gnomAD v4
13g.48459872T>GCA034110RB1c.2106+39T>G (n.2106+39T>G)
c.194+78429T>G
c.1845+39T>G (n.1845+39T>G)
 dbSNP ExAC gnomAD v4
13g.48459872T=CA2090008276RB1c.2106+39T= (n.2106+39T=)
c.194+78429T=
c.1845+39T= (n.1845+39T=)
13g.48459873delCA2575413694RB1c.2106+40del (n.2106+40del)
c.194+78430del
c.1845+40del (n.1845+40del)
13g.48459873T>ACA2622985119RB1c.2106+40T>A (n.2106+40T>A)
c.194+78430T>A
c.1845+40T>A (n.1845+40T>A)
 dbSNP gnomAD v4
13g.48459873T>CCA2622985120RB1c.2106+40T>C (n.2106+40T>C)
c.194+78430T>C
c.1845+40T>C (n.1845+40T>C)
 gnomAD v4
13g.48459873T>GCA2622985121RB1c.2106+40T>G (n.2106+40T>G)
c.194+78430T>G
c.1845+40T>G (n.1845+40T>G)
 gnomAD v4
13g.48459874A>CCA2622985122RB1c.2106+41A>C (n.2106+41A>C)
c.194+78431A>C
c.1845+41A>C (n.1845+41A>C)
 dbSNP gnomAD v4
13g.48459874A>TCA2728090211RB1c.2106+41A>T (n.2106+41A>T)
c.194+78431A>T
c.1845+41A>T (n.1845+41A>T)
 dbSNP
13g.48459875C>ACA2622985123RB1c.2106+42C>A (n.2106+42C>A)
c.194+78432C>A
c.1845+42C>A (n.1845+42C>A)
 dbSNP gnomAD v4
13g.48459875C=CA2090008278RB1c.2106+42C= (n.2106+42C=)
c.194+78432C=
c.1845+42C= (n.1845+42C=)
13g.48459875C>GCA2727841486RB1c.2106+42C>G (n.2106+42C>G)
c.194+78432C>G
c.1845+42C>G (n.1845+42C>G)
 dbSNP
13g.48459875C>TCA034121RB1c.2106+42C>T (n.2106+42C>T)
c.194+78432C>T
c.1845+42C>T (n.1845+42C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.48459876T>ACA2727837449RB1c.2106+43T>A (n.2106+43T>A)
c.194+78433T>A
c.1845+43T>A (n.1845+43T>A)
 dbSNP
13g.48459876T>CCA2727837450RB1c.2106+43T>C (n.2106+43T>C)
c.194+78433T>C
c.1845+43T>C (n.1845+43T>C)
 dbSNP
13g.48459876T>GCA034139RB1c.2106+43T>G (n.2106+43T>G)
c.194+78433T>G
c.1845+43T>G (n.1845+43T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.48459876T=CA2090008281RB1c.2106+43T= (n.2106+43T=)
c.194+78433T=
c.1845+43T= (n.1845+43T=)
13g.48459877delCA2622985124RB1c.2106+44del (n.2106+44del)
c.194+78434del
c.1845+44del (n.1845+44del)
 gnomAD v4
13g.48459877T>ACA2727861477RB1c.2106+44T>A (n.2106+44T>A)
c.194+78434T>A
c.1845+44T>A (n.1845+44T>A)
 dbSNP
13g.48459877T>CCA2575413695RB1c.2106+44T>C (n.2106+44T>C)
c.194+78434T>C
c.1845+44T>C (n.1845+44T>C)
 gnomAD v4
13g.48459877T>GCA609584678RB1c.2106+44T>G (n.2106+44T>G)
c.194+78434T>G
c.1845+44T>G (n.1845+44T>G)
 dbSNP gnomAD v2 gnomAD v4
13g.48459877T=CA2090008284RB1c.2106+44T= (n.2106+44T=)
c.194+78434T=
c.1845+44T= (n.1845+44T=)
13g.48459878G>ACA609584679RB1c.2106+45G>A (n.2106+45G>A)
c.194+78435G>A
c.1845+45G>A (n.1845+45G>A)
 dbSNP gnomAD v2 gnomAD v4
13g.48459878G>CCA2727868597RB1c.2106+45G>C (n.2106+45G>C)
c.194+78435G>C
c.1845+45G>C (n.1845+45G>C)
 dbSNP
13g.48459878G=CA2090008286RB1c.2106+45G= (n.2106+45G=)
c.194+78435G=
c.1845+45G= (n.1845+45G=)
13g.48459878G>TCA2622985125RB1c.2106+45G>T (n.2106+45G>T)
c.194+78435G>T
c.1845+45G>T (n.1845+45G>T)
 dbSNP gnomAD v4
13g.48459879T>CCA2090008290RB1c.2106+46T>C (n.2106+46T>C)
c.194+78436T>C
c.1845+46T>C (n.1845+46T>C)
 dbSNP gnomAD v4
13g.48459879T=CA2090008289RB1c.2106+46T= (n.2106+46T=)
c.194+78436T=
c.1845+46T= (n.1845+46T=)
13g.48459880T>ACA2575413696RB1c.2106+47T>A (n.2106+47T>A)
c.194+78437T>A
c.1845+47T>A (n.1845+47T>A)
 dbSNP
13g.48459880T>CCA2622985126RB1c.2106+47T>C (n.2106+47T>C)
c.194+78437T>C
c.1845+47T>C (n.1845+47T>C)
 gnomAD v4
13g.48459881A>GCA2622985127RB1c.2106+48A>G (n.2106+48A>G)
c.194+78438A>G
c.1845+48A>G (n.1845+48A>G)
 gnomAD v4
13g.48459881A>TCA2728090214RB1c.2106+48A>T (n.2106+48A>T)
c.194+78438A>T
c.1845+48A>T (n.1845+48A>T)
 dbSNP
13g.48459882A>CCA2622985128RB1c.2106+49A>C (n.2106+49A>C)
c.194+78439A>C
c.1845+49A>C (n.1845+49A>C)
 gnomAD v4
13g.48459883C>ACA2575413697RB1c.2106+50C>A (n.2106+50C>A)
c.194+78440C>A
c.1845+50C>A (n.1845+50C>A)
 gnomAD v4
13g.48459883C>TCA2622985129RB1c.2106+50C>T (n.2106+50C>T)
c.194+78440C>T
c.1845+50C>T (n.1845+50C>T)
 gnomAD v4
13g.48459884T>CCA2622985131RB1c.2106+51T>C (n.2106+51T>C)
c.194+78441T>C
c.1845+51T>C (n.1845+51T>C)
 gnomAD v4
13g.48459885_48459887delCA2622985130RB1c.2106+52_2106+54del (n.2106+52_2106+54del)
c.194+78442_194+78444del
c.1845+52_1845+54del (n.1845+52_1845+54del)
 gnomAD v4

Number of alleles fetched