Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.111409972G>TCA2694473439DCXc.364+63C>A (n.364+63C>A)
c.607+63C>A (n.607+63C>A)
c.582+63C>A
n.604+63C>A
gnomAD v4
Xg.111409973A=CA2451700340DCXc.364+62T= (n.364+62T=)
c.607+62T= (n.607+62T=)
c.582+62T=
n.604+62T=
Xg.111409973A>GCA1136316528DCXc.364+62T>C (n.364+62T>C)
c.607+62T>C (n.607+62T>C)
c.582+62T>C
n.604+62T>C
dbSNP gnomAD v3 gnomAD v4
Xg.111409974A>CCA2694473440DCXc.364+61T>G (n.364+61T>G)
c.607+61T>G (n.607+61T>G)
c.582+61T>G
n.604+61T>G
gnomAD v4
Xg.111409975T>CCA334420937DCXc.364+60A>G (n.364+60A>G)
c.607+60A>G (n.607+60A>G)
c.582+60A>G
n.604+60A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.111409975T=CA2451700341DCXc.364+60A= (n.364+60A=)
c.607+60A= (n.607+60A=)
c.582+60A=
n.604+60A=
Xg.111409976G>ACA2547389115DCXc.364+59C>T (n.364+59C>T)
c.607+59C>T (n.607+59C>T)
c.582+59C>T
n.604+59C>T
Xg.111409979delCA2579680635DCXc.364+57del (n.364+57del)
c.607+57del (n.607+57del)
c.582+57del
n.604+57del
Xg.111409982A>GCA2694473441DCXc.364+53T>C (n.364+53T>C)
c.607+53T>C (n.607+53T>C)
c.582+53T>C
n.604+53T>C
gnomAD v4
Xg.111409986C>ACA334420938DCXc.364+49G>T (n.364+49G>T)
c.607+49G>T (n.607+49G>T)
c.582+49G>T
n.604+49G>T
dbSNP gnomAD v4
Xg.111409986C=CA2451700342DCXc.364+49G= (n.364+49G=)
c.607+49G= (n.607+49G=)
c.582+49G=
n.604+49G=
Xg.111409986C>TCA643831558DCXc.364+49G>A (n.364+49G>A)
c.607+49G>A (n.607+49G>A)
c.582+49G>A
n.604+49G>A
dbSNP gnomAD v2 gnomAD v4
Xg.111409987C>ACA870065250DCXc.364+48G>T (n.364+48G>T)
c.607+48G>T (n.607+48G>T)
c.582+48G>T
n.604+48G>T
dbSNP gnomAD v3 gnomAD v4
Xg.111409987C=CA2451700343DCXc.364+48G= (n.364+48G=)
c.607+48G= (n.607+48G=)
c.582+48G=
n.604+48G=
Xg.111409989A>GCA2694473442DCXc.364+46T>C (n.364+46T>C)
c.607+46T>C (n.607+46T>C)
c.582+46T>C
n.604+46T>C
gnomAD v4
Xg.111409993T>CCA10493332DCXc.364+42A>G (n.364+42A>G)
c.607+42A>G (n.607+42A>G)
c.582+42A>G
n.604+42A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.111409993T=CA2451700344DCXc.364+42A= (n.364+42A=)
c.607+42A= (n.607+42A=)
c.582+42A=
n.604+42A=
Xg.111409994G>ACA2451700346DCXc.364+41C>T (n.364+41C>T)
c.607+41C>T (n.607+41C>T)
c.582+41C>T
n.604+41C>T
dbSNP
Xg.111409994G=CA2451700345DCXc.364+41C= (n.364+41C=)
c.607+41C= (n.607+41C=)
c.582+41C=
n.604+41C=
Xg.111409997A=CA2451700347DCXc.364+38T= (n.364+38T=)
c.607+38T= (n.607+38T=)
c.582+38T=
n.604+38T=
Xg.111409997A>CCA10493333DCXc.364+38T>G (n.364+38T>G)
c.607+38T>G (n.607+38T>G)
c.582+38T>G
n.604+38T>G
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.111409998C>ACA643831568DCXc.364+37G>T (n.364+37G>T)
c.607+37G>T (n.607+37G>T)
c.582+37G>T
n.604+37G>T
dbSNP gnomAD v2 gnomAD v4
Xg.111409998C=CA2451700348DCXc.364+37G= (n.364+37G=)
c.607+37G= (n.607+37G=)
c.582+37G=
n.604+37G=
Xg.111409998C>TCA643831566DCXc.364+37G>A (n.364+37G>A)
c.607+37G>A (n.607+37G>A)
c.582+37G>A
n.604+37G>A
dbSNP gnomAD v2 gnomAD v4
Xg.111409999dupCA2694473443DCXc.364+37dup (n.364+37dup)
c.607+37dup (n.607+37dup)
c.582+37dup
n.604+37dup
gnomAD v4
Xg.111409999C=CA2451700349DCXc.364+36G= (n.364+36G=)
c.607+36G= (n.607+36G=)
c.582+36G=
n.604+36G=
Xg.111409999C>TCA870065267DCXc.364+36G>A (n.364+36G>A)
c.607+36G>A (n.607+36G>A)
c.582+36G>A
n.604+36G>A
dbSNP gnomAD v3 gnomAD v4
Xg.111410000T>CCA658431367DCXc.364+35A>G (n.364+35A>G)
c.607+35A>G (n.607+35A>G)
c.582+35A>G
n.604+35A>G
COSMIC
Xg.111410001C>ACA334420939DCXc.364+34G>T (n.364+34G>T)
c.607+34G>T (n.607+34G>T)
c.582+34G>T
n.604+34G>T
dbSNP
Xg.111410001C=CA2451700350DCXc.364+34G= (n.364+34G=)
c.607+34G= (n.607+34G=)
c.582+34G=
n.604+34G=
Xg.111410002C>TCA658431368DCXc.364+33G>A (n.364+33G>A)
c.607+33G>A (n.607+33G>A)
c.582+33G>A
n.604+33G>A
COSMIC
Xg.111410003C>TCA2694473444DCXc.364+32G>A (n.364+32G>A)
c.607+32G>A (n.607+32G>A)
c.582+32G>A
n.604+32G>A
gnomAD v4
Xg.111410007A=CA2451700351DCXc.364+28T= (n.364+28T=)
c.607+28T= (n.607+28T=)
c.582+28T=
n.604+28T=
Xg.111410007A>TCA1136316538DCXc.364+28T>A (n.364+28T>A)
c.607+28T>A (n.607+28T>A)
c.582+28T>A
n.604+28T>A
dbSNP gnomAD v3 gnomAD v4
Xg.111410009C=CA2451700352DCXc.364+26G= (n.364+26G=)
c.607+26G= (n.607+26G=)
c.582+26G=
n.604+26G=
Xg.111410009C>TCA658431370DCXc.364+26G>A (n.364+26G>A)
c.607+26G>A (n.607+26G>A)
c.582+26G>A
n.604+26G>A
dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.111410010G>ACA2451700354DCXc.364+25C>T (n.364+25C>T)
c.607+25C>T (n.607+25C>T)
c.582+25C>T
n.604+25C>T
dbSNP
Xg.111410010G=CA2451700353DCXc.364+25C= (n.364+25C=)
c.607+25C= (n.607+25C=)
c.582+25C=
n.604+25C=
Xg.111410010G>TCA2694473445DCXc.364+25C>A (n.364+25C>A)
c.607+25C>A (n.607+25C>A)
c.582+25C>A
n.604+25C>A
dbSNP gnomAD v4
Xg.111410011G>TCA2579680636DCXc.364+24C>A (n.364+24C>A)
c.607+24C>A (n.607+24C>A)
c.582+24C>A
n.604+24C>A
Xg.111410014A>GCA2579680637DCXc.364+21T>C (n.364+21T>C)
c.607+21T>C (n.607+21T>C)
c.582+21T>C
n.604+21T>C
Xg.111410014_111410015delinsACCA2451700355DCXc.364+20_364+21delinsGT (n.364+20_364+21delinsGT)
c.607+20_607+21delinsGT (n.607+20_607+21delinsGT)
c.582+20_582+21delinsGT
n.604+20_604+21delinsGT
Xg.111410016delCA643831570DCXc.364+20del (n.364+20del)
c.607+20del (n.607+20del)
c.582+20del
n.604+20del
dbSNP gnomAD v2 gnomAD v4
Xg.111410017A=CA2451700356DCXc.364+18T= (n.364+18T=)
c.607+18T= (n.607+18T=)
c.582+18T=
n.604+18T=
Xg.111410017A>TCA10493334DCXc.364+18T>A (n.364+18T>A)
c.607+18T>A (n.607+18T>A)
c.582+18T>A
n.604+18T>A
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.111410019C>ACA870065276DCXc.364+16G>T (n.364+16G>T)
c.607+16G>T (n.607+16G>T)
c.582+16G>T
n.604+16G>T
dbSNP gnomAD v3 gnomAD v4
Xg.111410019C=CA2451700357DCXc.364+16G= (n.364+16G=)
c.607+16G= (n.607+16G=)
c.582+16G=
n.604+16G=
Xg.111410020C>TCA2694473446DCXc.364+15G>A (n.364+15G>A)
c.607+15G>A (n.607+15G>A)
c.582+15G>A
n.604+15G>A
gnomAD v4
Xg.111410021A=CA2451700358DCXc.364+14T= (n.364+14T=)
c.607+14T= (n.607+14T=)
c.582+14T=
n.604+14T=
Xg.111410021A>GCA10493335DCXc.364+14T>C (n.364+14T>C)
c.607+14T>C (n.607+14T>C)
c.582+14T>C
n.604+14T>C
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.111410022C>GCA2694473447DCXc.364+13G>C (n.364+13G>C)
c.607+13G>C (n.607+13G>C)
c.582+13G>C
n.604+13G>C
gnomAD v4
Xg.111410023T>CCA2579680638DCXc.364+12A>G (n.364+12A>G)
c.607+12A>G (n.607+12A>G)
c.582+12A>G
n.604+12A>G
Xg.111410028A>GCA2547098940DCXc.364+7T>C (n.364+7T>C)
c.607+7T>C (n.607+7T>C)
c.582+7T>C
n.604+7T>C
Xg.111410028A>TCA2822983328DCXc.364+7T>A (n.364+7T>A)
c.607+7T>A (n.607+7T>A)
c.582+7T>A
n.604+7T>A
Xg.111410031T>ACA2694473448DCXc.364+4A>T (n.364+4A>T)
c.607+4A>T (n.607+4A>T)
c.582+4A>T
n.604+4A>T
gnomAD v4
Xg.111410031T>CCA2694473449DCXc.364+4A>G (n.364+4A>G)
c.607+4A>G (n.607+4A>G)
c.582+4A>G
n.604+4A>G
gnomAD v4
Xg.111410033A>CCA414246543DCXc.364+2T>G (n.364+2T>G)
c.607+2T>G (n.607+2T>G)
c.582+2T>G
n.604+2T>G
Xg.111410033A>GCA414246545DCXc.364+2T>C (n.364+2T>C)
c.607+2T>C (n.607+2T>C)
c.582+2T>C
n.604+2T>C
Xg.111410033A>TCA414246544DCXc.364+2T>A (n.364+2T>A)
c.607+2T>A (n.607+2T>A)
c.582+2T>A
n.604+2T>A
Xg.111410033_111410034delinsACCA2451700359DCXc.364+1_364+2delinsGT (n.364+1_364+2delinsGT)
c.607+1_607+2delinsGT (n.607+1_607+2delinsGT)
c.582+1_582+2delinsGT
n.604+1_604+2delinsGT
Xg.111410034C>ACA414246546DCXc.364+1G>T (n.364+1G>T)
c.607+1G>T (n.607+1G>T)
c.582+1G>T
n.604+1G>T
Xg.111410034C>GCA414246547DCXc.364+1G>C (n.364+1G>C)
c.607+1G>C (n.607+1G>C)
c.582+1G>C
n.604+1G>C
Xg.111410034C>TCA414246548DCXc.364+1G>A (n.364+1G>A)
c.607+1G>A (n.607+1G>A)
c.582+1G>A
n.604+1G>A
ClinVar dbSNP
Xg.111410035delCA16621179DCXc.364+1del
c.607+1del
c.582+1del
n.604+1del
ClinVar dbSNP
Xg.111410035C>ACA414246549DCXc.364G>T
c.364G>T (p.Gly122Trp)
c.607G>T (p.Gly203Trp)
c.582G>T
n.604G>T
Xg.111410035C=CA2451700360DCXc.364G=
c.364G= (p.Gly122=)
c.607G= (p.Gly203=)
c.582G=
n.604G=
Xg.111410035C>GCA414246550DCXc.364G>C
c.364G>C (p.Gly122Arg)
c.607G>C (p.Gly203Arg)
c.582G>C
n.604G>C
Xg.111410035C>TCA171938DCXc.364G>A
c.364G>A (p.Gly122Arg)
c.607G>A (p.Gly203Arg)
c.582G>A
n.604G>A
ClinVar dbSNP
Xg.111410036T>ACA414246551DCXc.363A>T (p.Glu121Asp)
c.606A>T (p.Glu202Asp)
c.581A>T
n.603A>T
Xg.111410036T>CCA518032900DCXc.363A>G (p.Glu121=)
c.606A>G (p.Glu202=)
c.581A>G
n.603A>G
Xg.111410036T>GCA414246552DCXc.363A>C (p.Glu121Asp)
c.606A>C (p.Glu202Asp)
c.581A>C
n.603A>C
Xg.111410037T>ACA414246553DCXc.362A>T (p.Glu121Val)
c.605A>T (p.Glu202Val)
c.580A>T
n.602A>T
Xg.111410037T>CCA414246554DCXc.362A>G (p.Glu121Gly)
c.605A>G (p.Glu202Gly)
c.580A>G
n.602A>G
Xg.111410037T>GCA414246555DCXc.362A>C (p.Glu121Ala)
c.605A>C (p.Glu202Ala)
c.580A>C
n.602A>C
Xg.111410038C>ACA414246557DCXc.361G>T (p.Glu121Ter)
c.604G>T (p.Glu202Ter)
c.579G>T
n.601G>T
Xg.111410038C>GCA414246558DCXc.361G>C (p.Glu121Gln)
c.604G>C (p.Glu202Gln)
c.579G>C
n.601G>C
Xg.111410038C>TCA414246556DCXc.361G>A (p.Glu121Lys)
c.604G>A (p.Glu202Lys)
c.579G>A
n.601G>A
gnomAD v4
Xg.111410039C>ACA414246560DCXc.360G>T (p.Glu120Asp)
c.603G>T (p.Glu201Asp)
c.578G>T
n.600G>T
Xg.111410039C=CA2451700361DCXc.360G= (p.Glu120=)
c.603G= (p.Glu201=)
c.578G=
n.600G=
Xg.111410039C>GCA414246559DCXc.360G>C (p.Glu120Asp)
c.603G>C (p.Glu201Asp)
c.578G>C
n.600G>C
Xg.111410039C>TCA518032901DCXc.360G>A (p.Glu120=)
c.603G>A (p.Glu201=)
c.578G>A
n.600G>A
dbSNP gnomAD v4
Xg.111410040T>ACA10493336DCXc.359A>T (p.Glu120Val)
c.602A>T (p.Glu201Val)
c.577A>T
n.599A>T
dbSNP ExAC
Xg.111410040T>CCA414246561DCXc.359A>G (p.Glu120Gly)
c.602A>G (p.Glu201Gly)
c.577A>G
n.599A>G
gnomAD v4
Xg.111410040T>GCA414246562DCXc.359A>C (p.Glu120Ala)
c.602A>C (p.Glu201Ala)
c.577A>C
n.599A>C
Xg.111410040T=CA2451700362DCXc.359A= (p.Glu120=)
c.602A= (p.Glu201=)
c.577A=
n.599A=
Xg.111410041C>ACA414246563DCXc.358G>T (p.Glu120Ter)
c.601G>T (p.Glu201Ter)
c.576G>T
n.598G>T
COSMIC COSMIC
Xg.111410041C>GCA414246564DCXc.358G>C (p.Glu120Gln)
c.601G>C (p.Glu201Gln)
c.576G>C
n.598G>C
Xg.111410041C>TCA414246565DCXc.358G>A (p.Glu120Lys)
c.601G>A (p.Glu201Lys)
c.576G>A
n.598G>A
COSMIC COSMIC
Xg.111410042C>ACA518032908DCXc.357G>T (p.Leu119=)
c.600G>T (p.Leu200=)
c.575G>T
n.597G>T
Xg.111410042C>GCA518032909DCXc.357G>C (p.Leu119=)
c.600G>C (p.Leu200=)
c.575G>C
n.597G>C
Xg.111410042C>TCA518032910DCXc.357G>A (p.Leu119=)
c.600G>A (p.Leu200=)
c.575G>A
n.597G>A
Xg.111410042_111410044delinsCAGCA2451700363DCXc.355_357delinsCTG (p.Leu119=)
c.598_600delinsCTG (p.Leu200=)
c.573_575delinsCTG
n.595_597delinsCTG
Xg.111410043A>CCA414246566DCXc.356T>G (p.Leu119Arg)
c.599T>G (p.Leu200Arg)
c.574T>G
n.596T>G
Xg.111410043A>GCA414246568DCXc.356T>C (p.Leu119Pro)
c.599T>C (p.Leu200Pro)
c.574T>C
n.596T>C
Xg.111410043A>TCA414246567DCXc.356T>A (p.Leu119Gln)
c.599T>A (p.Leu200Gln)
c.574T>A
n.596T>A
Xg.111410043_111410044delCA645372690DCXc.355_356del (p.Leu119GlyfsTer?)
c.355_356del (p.Leu119GlyfsTer15)
c.598_599del (p.Leu200GlyfsTer15)
c.573_574del
n.595_596del
ClinVar dbSNP
Xg.111410044G>ACA518032912DCXc.355C>T (p.Leu119=)
c.598C>T (p.Leu200=)
c.573C>T
n.595C>T
dbSNP gnomAD v4
Xg.111410044G>CCA414246569DCXc.355C>G (p.Leu119Val)
c.598C>G (p.Leu200Val)
c.573C>G
n.595C>G
Xg.111410044G=CA2451700364DCXc.355C= (p.Leu119=)
c.598C= (p.Leu200=)
c.573C=
n.595C=
Xg.111410044G>TCA414246570DCXc.355C>A (p.Leu119Met)
c.598C>A (p.Leu200Met)
c.573C>A
n.595C>A
Xg.111410045T>ACA414246571DCXc.354A>T (p.Glu118Asp)
c.597A>T (p.Glu199Asp)
c.572A>T
n.594A>T
COSMIC COSMIC
Xg.111410045T>CCA518032913DCXc.354A>G (p.Glu118=)
c.597A>G (p.Glu199=)
c.572A>G
n.594A>G
Xg.111410045T>GCA414246572DCXc.354A>C (p.Glu118Asp)
c.597A>C (p.Glu199Asp)
c.572A>C
n.594A>C
Xg.111410046T>ACA414246573DCXc.353A>T (p.Glu118Val)
c.596A>T (p.Glu199Val)
c.571A>T
n.593A>T
Xg.111410046T>CCA414246575DCXc.353A>G (p.Glu118Gly)
c.596A>G (p.Glu199Gly)
c.571A>G
n.593A>G
Xg.111410046T>GCA414246574DCXc.353A>C (p.Glu118Ala)
c.596A>C (p.Glu199Ala)
c.571A>C
n.593A>C
Xg.111410047C>ACA414246576DCXc.352G>T (p.Glu118Ter)
c.595G>T (p.Glu199Ter)
c.570G>T
n.592G>T
Xg.111410047C>GCA414246577DCXc.352G>C (p.Glu118Gln)
c.595G>C (p.Glu199Gln)
c.570G>C
n.592G>C
Xg.111410047C>TCA414246578DCXc.352G>A (p.Glu118Lys)
c.595G>A (p.Glu199Lys)
c.570G>A
n.592G>A
COSMIC COSMIC
Xg.111410048A>CCA414246579DCXc.351T>G (p.Asp117Glu)
c.594T>G (p.Asp198Glu)
c.569T>G
n.591T>G
Xg.111410048A>GCA518032919DCXc.351T>C (p.Asp117=)
c.594T>C (p.Asp198=)
c.569T>C
n.591T>C
Xg.111410048A>TCA414246580DCXc.351T>A (p.Asp117Glu)
c.594T>A (p.Asp198Glu)
c.569T>A
n.591T>A
Xg.111410049T>ACA414246581DCXc.350A>T (p.Asp117Val)
c.593A>T (p.Asp198Val)
c.568A>T
n.590A>T
Xg.111410049T>CCA414246582DCXc.350A>G (p.Asp117Gly)
c.593A>G (p.Asp198Gly)
c.568A>G
n.590A>G
Xg.111410049T>GCA414246583DCXc.350A>C (p.Asp117Ala)
c.593A>C (p.Asp198Ala)
c.568A>C
n.590A>C
Xg.111410050C>ACA414246584DCXc.349G>T (p.Asp117Tyr)
c.592G>T (p.Asp198Tyr)
c.567G>T
n.589G>T
Xg.111410050C>GCA414246585DCXc.349G>C (p.Asp117His)
c.592G>C (p.Asp198His)
c.567G>C
n.589G>C
Xg.111410050C>TCA414246586DCXc.349G>A (p.Asp117Asn)
c.592G>A (p.Asp198Asn)
c.567G>A
n.589G>A
Xg.111410051C>ACA414246589DCXc.348G>T (p.Met116Ile)
c.591G>T (p.Met197Ile)
c.566G>T
n.588G>T
Xg.111410051C>GCA414246588DCXc.348G>C (p.Met116Ile)
c.591G>C (p.Met197Ile)
c.566G>C
n.588G>C
Xg.111410051C>TCA414246587DCXc.348G>A (p.Met116Ile)
c.591G>A (p.Met197Ile)
c.566G>A
n.588G>A
Xg.111410052A>CCA414246590DCXc.347T>G (p.Met116Arg)
c.590T>G (p.Met197Arg)
c.565T>G
n.587T>G
Xg.111410052A>GCA414246591DCXc.347T>C (p.Met116Thr)
c.590T>C (p.Met197Thr)
c.565T>C
n.587T>C
Xg.111410052A>TCA414246592DCXc.347T>A (p.Met116Lys)
c.590T>A (p.Met197Lys)
c.565T>A
n.587T>A
Xg.111410053T>ACA414246593DCXc.346A>T (p.Met116Leu)
c.589A>T (p.Met197Leu)
c.564A>T
n.586A>T
Xg.111410053T>CCA414246594DCXc.346A>G (p.Met116Val)
c.589A>G (p.Met197Val)
c.564A>G
n.586A>G
Xg.111410053T>GCA414246595DCXc.346A>C (p.Met116Leu)
c.589A>C (p.Met197Leu)
c.564A>C
n.586A>C
Xg.111410054G>ACA518032923DCXc.345C>T (p.Ser115=)
c.588C>T (p.Ser196=)
c.563C>T
n.585C>T
dbSNP
Xg.111410054G>CCA414246597DCXc.345C>G (p.Ser115Arg)
c.588C>G (p.Ser196Arg)
c.563C>G
n.585C>G
Xg.111410054G>TCA414246596DCXc.345C>A (p.Ser115Arg)
c.588C>A (p.Ser196Arg)
c.563C>A
n.585C>A
Xg.111410054_111410055insTCA645605819DCXc.344_345insA (p.Ser115ArgfsTer4)
c.587_588insA (p.Ser196ArgfsTer4)
c.562_563insA
n.584_585insA
COSMIC COSMIC
Xg.111410055C>ACA414246598DCXc.344G>T (p.Ser115Ile)
c.587G>T (p.Ser196Ile)
c.562G>T
n.584G>T
Xg.111410055C>GCA414246599DCXc.344G>C (p.Ser115Thr)
c.587G>C (p.Ser196Thr)
c.562G>C
n.584G>C
Xg.111410055C>TCA414246600DCXc.344G>A (p.Ser115Asn)
c.587G>A (p.Ser196Asn)
c.562G>A
n.584G>A
Xg.111410056T>ACA414246601DCXc.343A>T (p.Ser115Cys)
c.586A>T (p.Ser196Cys)
c.561A>T
n.583A>T
Xg.111410056T>CCA414246602DCXc.343A>G (p.Ser115Gly)
c.586A>G (p.Ser196Gly)
c.561A>G
n.583A>G
Xg.111410056T>GCA414246603DCXc.343A>C (p.Ser115Arg)
c.586A>C (p.Ser196Arg)
c.561A>C
n.583A>C
gnomAD v4
Xg.111410057T>ACA518032925DCXc.342A>T (p.Gly114=)
c.585A>T (p.Gly195=)
c.560A>T
n.582A>T
Xg.111410057T>CCA518032926DCXc.342A>G (p.Gly114=)
c.585A>G (p.Gly195=)
c.560A>G
n.582A>G
Xg.111410057T>GCA518032927DCXc.342A>C (p.Gly114=)
c.585A>C (p.Gly195=)
c.560A>C
n.582A>C
COSMIC COSMIC
Xg.111410058C>ACA414246604DCXc.341G>T (p.Gly114Val)
c.584G>T (p.Gly195Val)
c.559G>T
n.581G>T
Xg.111410058C>GCA414246606DCXc.341G>C (p.Gly114Ala)
c.584G>C (p.Gly195Ala)
c.559G>C
n.581G>C
Xg.111410058C>TCA414246605DCXc.341G>A (p.Gly114Glu)
c.584G>A (p.Gly195Glu)
c.559G>A
n.581G>A
COSMIC COSMIC
Xg.111410059C>ACA414246607DCXc.340G>T (p.Gly114Ter)
c.583G>T (p.Gly195Ter)
c.558G>T
n.580G>T
Xg.111410059C=CA2451700365DCXc.340G= (p.Gly114=)
c.583G= (p.Gly195=)
c.558G=
n.580G=
Xg.111410059C>GCA414246608DCXc.340G>C (p.Gly114Arg)
c.583G>C (p.Gly195Arg)
c.558G>C
n.580G>C
Xg.111410059C>TCA414246609DCXc.340G>A (p.Gly114Arg)
c.583G>A (p.Gly195Arg)
c.558G>A
n.580G>A
dbSNP gnomAD v2 gnomAD v4
Xg.111410060G>ACA518032931DCXc.339C>T (p.Ile113=)
c.582C>T (p.Ile194=)
c.557C>T
n.579C>T
gnomAD v4
Xg.111410060G>CCA414246610DCXc.339C>G (p.Ile113Met)
c.582C>G (p.Ile194Met)
c.557C>G
n.579C>G
Xg.111410060G=CA2451700366DCXc.339C= (p.Ile113=)
c.582C= (p.Ile194=)
c.557C=
n.579C=
Xg.111410060G>TCA171935DCXc.339C>A (p.Ile113=)
c.582C>A (p.Ile194=)
c.557C>A
n.579C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.111410060dupCA209374DCXc.339dup (p.Gly114ArgfsTer5)
c.582dup (p.Gly195ArgfsTer5)
c.557dup
n.579dup
ClinVar dbSNP
Xg.111410061A>CCA414246611DCXc.338T>G (p.Ile113Ser)
c.581T>G (p.Ile194Ser)
c.556T>G
n.578T>G
Xg.111410061A>GCA414246612DCXc.338T>C (p.Ile113Thr)
c.581T>C (p.Ile194Thr)
c.556T>C
n.578T>C
Xg.111410061A>TCA414246613DCXc.338T>A (p.Ile113Asn)
c.581T>A (p.Ile194Asn)
c.556T>A
n.578T>A
Xg.111410062T>ACA171932DCXc.337A>T (p.Ile113Phe)
c.580A>T (p.Ile194Phe)
c.555A>T
n.577A>T
ClinVar dbSNP
Xg.111410062T>CCA414246614DCXc.337A>G (p.Ile113Val)
c.580A>G (p.Ile194Val)
c.555A>G
n.577A>G
Xg.111410062T>GCA414246615DCXc.337A>C (p.Ile113Leu)
c.580A>C (p.Ile194Leu)
c.555A>C
n.577A>C
Xg.111410062T=CA2451700367DCXc.337A= (p.Ile113=)
c.580A= (p.Ile194=)
c.555A=
n.577A=
Xg.111410063C>ACA414246616DCXc.336G>T (p.Lys112Asn)
c.579G>T (p.Lys193Asn)
c.554G>T
n.576G>T
COSMIC COSMIC
Xg.111410063C>GCA414246617DCXc.336G>C (p.Lys112Asn)
c.579G>C (p.Lys193Asn)
c.554G>C
n.576G>C
Xg.111410063C>TCA518032939DCXc.336G>A (p.Lys112=)
c.579G>A (p.Lys193=)
c.554G>A
n.576G>A
Xg.111410064T>ACA414246618DCXc.335A>T (p.Lys112Met)
c.578A>T (p.Lys193Met)
c.553A>T
n.575A>T
dbSNP
Xg.111410064T>CCA414246620DCXc.335A>G (p.Lys112Arg)
c.578A>G (p.Lys193Arg)
c.553A>G
n.575A>G
Xg.111410064T>GCA414246619DCXc.335A>C (p.Lys112Thr)
c.578A>C (p.Lys193Thr)
c.553A>C
n.575A>C
Xg.111410064T=CA2451700368DCXc.335A= (p.Lys112=)
c.578A= (p.Lys193=)
c.553A=
n.575A=
Xg.111410065T>ACA414246621DCXc.334A>T (p.Lys112Ter)
c.577A>T (p.Lys193Ter)
c.552A>T
n.574A>T
Xg.111410065T>CCA414246623DCXc.334A>G (p.Lys112Glu)
c.577A>G (p.Lys193Glu)
c.552A>G
n.574A>G
Xg.111410065T>GCA414246622DCXc.334A>C (p.Lys112Gln)
c.577A>C (p.Lys193Gln)
c.552A>C
n.574A>C
Xg.111410066C>ACA414246624DCXc.333G>T (p.Arg111Ser)
c.576G>T (p.Arg192Ser)
c.551G>T
n.573G>T
Xg.111410066C=CA2451700369DCXc.333G= (p.Arg111=)
c.576G= (p.Arg192=)
c.551G=
n.573G=
Xg.111410066C>GCA414246625DCXc.333G>C (p.Arg111Ser)
c.576G>C (p.Arg192Ser)
c.551G>C
n.573G>C
Xg.111410066C>TCA518032946DCXc.333G>A (p.Arg111=)
c.576G>A (p.Arg192=)
c.551G>A
n.573G>A
dbSNP gnomAD v4 COSMIC COSMIC
Xg.111410067C>ACA414246626DCXc.332G>T (p.Arg111Met)
c.575G>T (p.Arg192Met)
c.550G>T
n.572G>T
Xg.111410067C>GCA414246627DCXc.332G>C (p.Arg111Thr)
c.575G>C (p.Arg192Thr)
c.550G>C
n.572G>C
Xg.111410067C>TCA414246628DCXc.332G>A (p.Arg111Lys)
c.575G>A (p.Arg192Lys)
c.550G>A
n.572G>A
Xg.111410068T>ACA414246629DCXc.331A>T (p.Arg111Trp)
c.574A>T (p.Arg192Trp)
c.549A>T
n.571A>T
Xg.111410068T>CCA414246630DCXc.331A>G (p.Arg111Gly)
c.574A>G (p.Arg192Gly)
c.549A>G
n.571A>G
Xg.111410068T>GCA518032950DCXc.331A>C (p.Arg111=)
c.574A>C (p.Arg192=)
c.549A>C
n.571A>C
ClinVar
Xg.111410069G>ACA518032951DCXc.330C>T (p.Ser110=)
c.573C>T (p.Ser191=)
c.548C>T
n.570C>T
Xg.111410069G>CCA518032952DCXc.330C>G (p.Ser110=)
c.573C>G (p.Ser191=)
c.548C>G
n.570C>G
Xg.111410069G>TCA518032953DCXc.330C>A (p.Ser110=)
c.573C>A (p.Ser191=)
c.548C>A
n.570C>A
Xg.111410070G>ACA414246631DCXc.329C>T (p.Ser110Phe)
c.572C>T (p.Ser191Phe)
c.547C>T
n.569C>T
Xg.111410070G>CCA414246632DCXc.329C>G (p.Ser110Cys)
c.572C>G (p.Ser191Cys)
c.547C>G
n.569C>G
Xg.111410070G>TCA414246633DCXc.329C>A (p.Ser110Tyr)
c.572C>A (p.Ser191Tyr)
c.547C>A
n.569C>A

Number of alleles fetched