Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
Xg.111410071delCA2822982328DCXc.328del (p.Ser110ProfsTer?)
c.571del (p.Ser191ProfsTer?)
c.546del
n.568del
Xg.111410071A>CCA414246636DCXc.328T>G (p.Ser110Ala)
c.571T>G (p.Ser191Ala)
c.546T>G
n.568T>G
Xg.111410071A>GCA414246635DCXc.328T>C (p.Ser110Pro)
c.571T>C (p.Ser191Pro)
c.546T>C
n.568T>C
Xg.111410071A>TCA414246634DCXc.328T>A (p.Ser110Thr)
c.571T>A (p.Ser191Thr)
c.546T>A
n.568T>A
 gnomAD v4
Xg.111410072T>ACA518032957DCXc.327A>T (p.Gly109=)
c.570A>T (p.Gly190=)
c.545A>T
n.567A>T
Xg.111410072T>CCA518032960DCXc.327A>G (p.Gly109=)
c.570A>G (p.Gly190=)
c.545A>G
n.567A>G
Xg.111410072T>GCA518032959DCXc.327A>C (p.Gly109=)
c.570A>C (p.Gly190=)
c.545A>C
n.567A>C
Xg.111410073C>ACA414246637DCXc.326G>T (p.Gly109Val)
c.569G>T (p.Gly190Val)
c.544G>T
n.566G>T
Xg.111410073C>GCA414246638DCXc.326G>C (p.Gly109Ala)
c.569G>C (p.Gly190Ala)
c.544G>C
n.566G>C
Xg.111410073C>TCA414246639DCXc.326G>A (p.Gly109Glu)
c.569G>A (p.Gly190Glu)
c.544G>A
n.566G>A
 COSMIC COSMIC
Xg.111410074_111410766delCA2580612296DCXc.-23+134_326del
c.-22-345_326del
c.-34_326del
c.210_569del
c.185_544del
n.219-345_566del
 ClinVar
Xg.111410074C>ACA414246640DCXc.325G>T (p.Gly109Ter)
c.568G>T (p.Gly190Ter)
c.543G>T
n.565G>T
Xg.111410074C>GCA414246641DCXc.325G>C (p.Gly109Arg)
c.568G>C (p.Gly190Arg)
c.543G>C
n.565G>C
Xg.111410074C>TCA414246642DCXc.325G>A (p.Gly109Arg)
c.568G>A (p.Gly190Arg)
c.543G>A
n.565G>A
Xg.111410075A>CCA414246643DCXc.324T>G (p.Asp108Glu)
c.567T>G (p.Asp189Glu)
c.542T>G
n.564T>G
Xg.111410075A>GCA518032962DCXc.324T>C (p.Asp108=)
c.567T>C (p.Asp189=)
c.542T>C
n.564T>C
Xg.111410075A>TCA414246644DCXc.324T>A (p.Asp108Glu)
c.567T>A (p.Asp189Glu)
c.542T>A
n.564T>A
Xg.111410076T>ACA414246645DCXc.323A>T (p.Asp108Val)
c.566A>T (p.Asp189Val)
c.541A>T
n.563A>T
Xg.111410076T>CCA414246646DCXc.323A>G (p.Asp108Gly)
c.566A>G (p.Asp189Gly)
c.541A>G
n.563A>G
Xg.111410076T>GCA414246647DCXc.323A>C (p.Asp108Ala)
c.566A>C (p.Asp189Ala)
c.541A>C
n.563A>C
Xg.111410077C>ACA414246650DCXc.322G>T (p.Asp108Tyr)
c.565G>T (p.Asp189Tyr)
c.540G>T
n.562G>T
Xg.111410077C>GCA414246649DCXc.322G>C (p.Asp108His)
c.565G>C (p.Asp189His)
c.540G>C
n.562G>C
Xg.111410077C>TCA414246648DCXc.322G>A (p.Asp108Asn)
c.565G>A (p.Asp189Asn)
c.540G>A
n.562G>A
Xg.111410078A>CCA414246651DCXc.321T>G (p.Ile107Met)
c.564T>G (p.Ile188Met)
c.539T>G
n.561T>G
Xg.111410078A>GCA518032968DCXc.321T>C (p.Ile107=)
c.564T>C (p.Ile188=)
c.539T>C
n.561T>C
Xg.111410078A>TCA518032969DCXc.321T>A (p.Ile107=)
c.564T>A (p.Ile188=)
c.539T>A
n.561T>A
Xg.111410079A=CA2451700370DCXc.320T= (p.Ile107=)
c.563T= (p.Ile188=)
c.538T=
n.560T=
Xg.111410079A>CCA414246652DCXc.320T>G (p.Ile107Ser)
c.563T>G (p.Ile188Ser)
c.538T>G
n.560T>G
Xg.111410079A>GCA16621180DCXc.320T>C (p.Ile107Thr)
c.563T>C (p.Ile188Thr)
c.538T>C
n.560T>C
 ClinVar dbSNP gnomAD v4
Xg.111410079A>TCA414246653DCXc.320T>A (p.Ile107Asn)
c.563T>A (p.Ile188Asn)
c.538T>A
n.560T>A
Xg.111410080T>ACA414246654DCXc.319A>T (p.Ile107Phe)
c.562A>T (p.Ile188Phe)
c.537A>T
n.559A>T
Xg.111410080T>CCA10493337DCXc.319A>G (p.Ile107Val)
c.562A>G (p.Ile188Val)
c.537A>G
n.559A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.111410080T>GCA414246655DCXc.319A>C (p.Ile107Leu)
c.562A>C (p.Ile188Leu)
c.537A>C
n.559A>C
Xg.111410080T=CA2451700371DCXc.319A= (p.Ile107=)
c.562A= (p.Ile188=)
c.537A=
n.559A=
Xg.111410081G>ACA518032973DCXc.318C>T (p.Thr106=)
c.561C>T (p.Thr187=)
c.536C>T
n.558C>T
Xg.111410081G>CCA518032975DCXc.318C>G (p.Thr106=)
c.561C>G (p.Thr187=)
c.536C>G
n.558C>G
Xg.111410081G>TCA518032972DCXc.318C>A (p.Thr106=)
c.561C>A (p.Thr187=)
c.536C>A
n.558C>A
Xg.111410082G>ACA414246656DCXc.317C>T (p.Thr106Ile)
c.560C>T (p.Thr187Ile)
c.535C>T
n.557C>T
Xg.111410082G>CCA414246657DCXc.317C>G (p.Thr106Ser)
c.560C>G (p.Thr187Ser)
c.535C>G
n.557C>G
Xg.111410082G>TCA414246658DCXc.317C>A (p.Thr106Asn)
c.560C>A (p.Thr187Asn)
c.535C>A
n.557C>A
Xg.111410083T>ACA414246659DCXc.316A>T (p.Thr106Ser)
c.559A>T (p.Thr187Ser)
c.534A>T
n.556A>T
Xg.111410083T>CCA414246660DCXc.316A>G (p.Thr106Ala)
c.559A>G (p.Thr187Ala)
c.534A>G
n.556A>G
Xg.111410083T>GCA414246661DCXc.316A>C (p.Thr106Pro)
c.559A>C (p.Thr187Pro)
c.534A>C
n.556A>C
Xg.111410083T=CA2451700372DCXc.316A= (p.Thr106=)
c.559A= (p.Thr187=)
c.534A=
n.556A=
Xg.111410084G>ACA518032981DCXc.315C>T (p.Tyr105=)
c.558C>T (p.Tyr186=)
c.533C>T
n.555C>T
 gnomAD v4
Xg.111410084G>CCA414246663DCXc.315C>G (p.Tyr105Ter)
c.558C>G (p.Tyr186Ter)
c.533C>G
n.555C>G
Xg.111410084G>TCA414246662DCXc.315C>A (p.Tyr105Ter)
c.558C>A (p.Tyr186Ter)
c.533C>A
n.555C>A
Xg.111410084_111410086dupCA207338DCXc.313_315dup (p.Tyr105_Thr106insTyr)
c.556_558dup (p.Tyr186_Thr187insTyr)
c.531_533dup
n.553_555dup
 ClinVar dbSNP
Xg.111410085T>ACA414246664DCXc.314A>T (p.Tyr105Phe)
c.557A>T (p.Tyr186Phe)
c.532A>T
n.554A>T
Xg.111410085T>CCA414246665DCXc.314A>G (p.Tyr105Cys)
c.557A>G (p.Tyr186Cys)
c.532A>G
n.554A>G
Xg.111410085T>GCA414246666DCXc.314A>C (p.Tyr105Ser)
c.557A>C (p.Tyr186Ser)
c.532A>C
n.554A>C
Xg.111410086A>CCA414246667DCXc.313T>G (p.Tyr105Asp)
c.556T>G (p.Tyr186Asp)
c.531T>G
n.553T>G
Xg.111410086A>GCA414246668DCXc.313T>C (p.Tyr105His)
c.556T>C (p.Tyr186His)
c.531T>C
n.553T>C
Xg.111410086A>TCA414246669DCXc.313T>A (p.Tyr105Asn)
c.556T>A (p.Tyr186Asn)
c.531T>A
n.553T>A
Xg.111410087A>CCA414246670DCXc.312T>G (p.Ile104Met)
c.555T>G (p.Ile185Met)
c.530T>G
n.552T>G
 COSMIC COSMIC
Xg.111410087A>GCA518032987DCXc.312T>C (p.Ile104=)
c.555T>C (p.Ile185=)
c.530T>C
n.552T>C
Xg.111410087A>TCA518032988DCXc.312T>A (p.Ile104=)
c.555T>A (p.Ile185=)
c.530T>A
n.552T>A
Xg.111410088A>CCA414246671DCXc.311T>G (p.Ile104Ser)
c.554T>G (p.Ile185Ser)
c.529T>G
n.551T>G
Xg.111410088A>GCA414246672DCXc.311T>C (p.Ile104Thr)
c.554T>C (p.Ile185Thr)
c.529T>C
n.551T>C
Xg.111410088A>TCA414246673DCXc.311T>A (p.Ile104Asn)
c.554T>A (p.Ile185Asn)
c.529T>A
n.551T>A
Xg.111410089T>ACA171929DCXc.310A>T (p.Ile104Phe)
c.553A>T (p.Ile185Phe)
c.528A>T
n.550A>T
 ClinVar dbSNP
Xg.111410089T>CCA334420940DCXc.310A>G (p.Ile104Val)
c.553A>G (p.Ile185Val)
c.528A>G
n.550A>G
 dbSNP gnomAD v3 gnomAD v4
Xg.111410089T>GCA414246674DCXc.310A>C (p.Ile104Leu)
c.553A>C (p.Ile185Leu)
c.528A>C
n.550A>C
Xg.111410089T=CA2451700373DCXc.310A= (p.Ile104=)
c.553A= (p.Ile185=)
c.528A=
n.550A=
Xg.111410089_111410090insATAGCA2504518877DCXc.309_310insCTAT (p.Ile104LeufsTer6)
c.552_553insCTAT (p.Ile185LeufsTer6)
c.527_528insCTAT
n.549_550insCTAT
Xg.111410090G>ACA518032992DCXc.309C>T (p.Tyr103=)
c.552C>T (p.Tyr184=)
c.527C>T
n.549C>T
 gnomAD v4
Xg.111410090G>CCA414246676DCXc.309C>G (p.Tyr103Ter)
c.552C>G (p.Tyr184Ter)
c.527C>G
n.549C>G
Xg.111410090G>TCA414246675DCXc.309C>A (p.Tyr103Ter)
c.552C>A (p.Tyr184Ter)
c.527C>A
n.549C>A
Xg.111410091T>ACA414246677DCXc.308A>T (p.Tyr103Phe)
c.551A>T (p.Tyr184Phe)
c.526A>T
n.548A>T
Xg.111410091T>CCA414246678DCXc.308A>G (p.Tyr103Cys)
c.551A>G (p.Tyr184Cys)
c.526A>G
n.548A>G
Xg.111410091T>GCA414246679DCXc.308A>C (p.Tyr103Ser)
c.551A>C (p.Tyr184Ser)
c.526A>C
n.548A>C
Xg.111410091_111410092insTCTATAGCAGTTGCCCA2520449467DCXc.307_308insGGCAACTGCTATAGA (p.Tyr103TrpfsTer5)
c.550_551insGGCAACTGCTATAGA (p.Tyr184TrpfsTer5)
c.525_526insGGCAACTGCTATAGA
n.547_548insGGCAACTGCTATAGA
Xg.111410092A>CCA414246680DCXc.307T>G (p.Tyr103Asp)
c.550T>G (p.Tyr184Asp)
c.525T>G
n.547T>G
Xg.111410092A>GCA414246681DCXc.307T>C (p.Tyr103His)
c.550T>C (p.Tyr184His)
c.525T>C
n.547T>C
Xg.111410092A>TCA414246682DCXc.307T>A (p.Tyr103Asn)
c.550T>A (p.Tyr184Asn)
c.525T>A
n.547T>A
Xg.111410093A=CA2451700374DCXc.306T= (p.Arg102=)
c.549T= (p.Arg183=)
c.524T=
n.546T=
Xg.111410093A>CCA518032996DCXc.306T>G (p.Arg102=)
c.549T>G (p.Arg183=)
c.524T>G
n.546T>G
 dbSNP gnomAD v2 gnomAD v4
Xg.111410093A>GCA10493338DCXc.306T>C (p.Arg102=)
c.549T>C (p.Arg183=)
c.524T>C
n.546T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.111410093A>TCA518032997DCXc.306T>A (p.Arg102=)
c.549T>A (p.Arg183=)
c.524T>A
n.546T>A
Xg.111410093_111410094insTTCGCTCAAGGCTCCAAGAATAAAGTCTTTTACAGGAGTCAATACTTCCACAAGTTTATTAAGAATTGGTCCAACCAATTCACCAATAACAGTTAATACAATATCCA2535105249DCXc.305_306insGATATTGTATTAACTGTTATTGGTGAATTGGTTGGACCAATTCTTAATAAACTTGTGGAAGTATTGACTCCTGTAAAAGACTTTATTCTTGGAGCCTTGAGCGAA (p.Arg103IlefsTer4)
c.548_549insGATATTGTATTAACTGTTATTGGTGAATTGGTTGGACCAATTCTTAATAAACTTGTGGAAGTATTGACTCCTGTAAAAGACTTTATTCTTGGAGCCTTGAGCGAA (p.Arg184IlefsTer4)
c.523_524insGATATTGTATTAACTGTTATTGGTGAATTGGTTGGACCAATTCTTAATAAACTTGTGGAAGTATTGACTCCTGTAAAAGACTTTATTCTTGGAGCCTTGAGCGAA
n.545_546insGATATTGTATTAACTGTTATTGGTGAATTGGTTGGACCAATTCTTAATAAACTTGTGGAAGTATTGACTCCTGTAAAAGACTTTATTCTTGGAGCCTTGAGCGAA
Xg.111410094C>ACA414246683DCXc.305G>T (p.Arg102Leu)
c.548G>T (p.Arg183Leu)
c.523G>T
n.545G>T
Xg.111410094C=CA2451700375DCXc.305G= (p.Arg102=)
c.548G= (p.Arg183=)
c.523G=
n.545G=
Xg.111410094C>GCA414246684DCXc.305G>C (p.Arg102Pro)
c.548G>C (p.Arg183Pro)
c.523G>C
n.545G>C
Xg.111410094C>TCA171926DCXc.305G>A (p.Arg102His)
c.548G>A (p.Arg183His)
c.523G>A
n.545G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.111410095G>ACA171923DCXc.304C>T (p.Arg102Cys)
c.547C>T (p.Arg183Cys)
c.522C>T
n.544C>T
 ClinVar dbSNP COSMIC COSMIC
Xg.111410095G>CCA10603581DCXc.304C>G (p.Arg102Gly)
c.547C>G (p.Arg183Gly)
c.522C>G
n.544C>G
 ClinVar dbSNP
Xg.111410095G=CA2451700376DCXc.304C= (p.Arg102=)
c.547C= (p.Arg183=)
c.522C=
n.544C=
Xg.111410095G>TCA414246685DCXc.304C>A (p.Arg102Ser)
c.547C>A (p.Arg183Ser)
c.522C>A
n.544C>A
 ClinVar dbSNP
Xg.111410096C>ACA518033000DCXc.303G>T (p.Val101=)
c.546G>T (p.Val182=)
c.521G>T
n.543G>T
 gnomAD v4
Xg.111410096C=CA2451700377DCXc.303G= (p.Val101=)
c.546G= (p.Val182=)
c.521G=
n.543G=
Xg.111410096C>GCA518033001DCXc.303G>C (p.Val101=)
c.546G>C (p.Val182=)
c.521G>C
n.543G>C
 dbSNP
Xg.111410096C>TCA518033002DCXc.303G>A (p.Val101=)
c.546G>A (p.Val182=)
c.521G>A
n.543G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.111410097A>CCA414246686DCXc.302T>G (p.Val101Gly)
c.545T>G (p.Val182Gly)
c.520T>G
n.542T>G
 ClinVar
Xg.111410097A>GCA414246688DCXc.302T>C (p.Val101Ala)
c.545T>C (p.Val182Ala)
c.520T>C
n.542T>C
Xg.111410097A>TCA414246687DCXc.302T>A (p.Val101Glu)
c.545T>A (p.Val182Glu)
c.520T>A
n.542T>A
Xg.111410098C>ACA414246689DCXc.301G>T (p.Val101Leu)
c.544G>T (p.Val182Leu)
c.519G>T
n.541G>T
Xg.111410098C=CA2451700378DCXc.301G= (p.Val101=)
c.544G= (p.Val182=)
c.519G=
n.541G=
Xg.111410098C>GCA414246690DCXc.301G>C (p.Val101Leu)
c.544G>C (p.Val182Leu)
c.519G>C
n.541G>C
Xg.111410098C>TCA171920DCXc.301G>A (p.Val101Met)
c.544G>A (p.Val182Met)
c.519G>A
n.541G>A
 ClinVar dbSNP
Xg.111410099T>ACA518033004DCXc.300A>T (p.Gly100=)
c.543A>T (p.Gly181=)
c.518A>T
n.540A>T
Xg.111410099T>CCA518033005DCXc.300A>G (p.Gly100=)
c.543A>G (p.Gly181=)
c.518A>G
n.540A>G
Xg.111410099T>GCA518033007DCXc.300A>C (p.Gly100=)
c.543A>C (p.Gly181=)
c.518A>C
n.540A>C
Xg.111410100C>ACA171914DCXc.299G>T (p.Gly100Val)
c.542G>T (p.Gly181Val)
c.517G>T
n.539G>T
 ClinVar dbSNP
Xg.111410100C=CA2451700379DCXc.299G= (p.Gly100=)
c.542G= (p.Gly181=)
c.517G=
n.539G=
Xg.111410100C>GCA414246691DCXc.299G>C (p.Gly100Ala)
c.542G>C (p.Gly181Ala)
c.517G>C
n.539G>C
Xg.111410100C>TCA171911DCXc.299G>A (p.Gly100Glu)
c.542G>A (p.Gly181Glu)
c.517G>A
n.539G>A
 ClinVar dbSNP
Xg.111410101C>ACA414246692DCXc.298G>T (p.Gly100Ter)
c.541G>T (p.Gly181Ter)
c.516G>T
n.538G>T
Xg.111410101C>GCA414246693DCXc.298G>C (p.Gly100Arg)
c.541G>C (p.Gly181Arg)
c.516G>C
n.538G>C
 ClinVar
Xg.111410101C>TCA414246694DCXc.298G>A (p.Gly100Arg)
c.541G>A (p.Gly181Arg)
c.516G>A
n.538G>A
 COSMIC COSMIC
Xg.111410102C>ACA414246695DCXc.297G>T (p.Gln99His)
c.540G>T (p.Gln180His)
c.515G>T
n.537G>T
Xg.111410102C>GCA414246696DCXc.297G>C (p.Gln99His)
c.540G>C (p.Gln180His)
c.515G>C
n.537G>C
Xg.111410102C>TCA518033013DCXc.297G>A (p.Gln99=)
c.540G>A (p.Gln180=)
c.515G>A
n.537G>A
 gnomAD v4
Xg.111410103T>ACA414246699DCXc.296A>T (p.Gln99Leu)
c.539A>T (p.Gln180Leu)
c.514A>T
n.536A>T
Xg.111410103T>CCA414246698DCXc.296A>G (p.Gln99Arg)
c.539A>G (p.Gln180Arg)
c.514A>G
n.536A>G
Xg.111410103T>GCA414246697DCXc.296A>C (p.Gln99Pro)
c.539A>C (p.Gln180Pro)
c.514A>C
n.536A>C
Xg.111410104G>ACA414246700DCXc.295C>T (p.Gln99Ter)
c.538C>T (p.Gln180Ter)
c.513C>T
n.535C>T
Xg.111410104G>CCA414246701DCXc.295C>G (p.Gln99Glu)
c.538C>G (p.Gln180Glu)
c.513C>G
n.535C>G
Xg.111410104G>TCA414246702DCXc.295C>A (p.Gln99Lys)
c.538C>A (p.Gln180Lys)
c.513C>A
n.535C>A
Xg.111410105A>CCA518033019DCXc.294T>G (p.Pro98=)
c.537T>G (p.Pro179=)
c.512T>G
n.534T>G
Xg.111410105A>GCA518033021DCXc.294T>C (p.Pro98=)
c.537T>C (p.Pro179=)
c.512T>C
n.534T>C
Xg.111410105A>TCA518033022DCXc.294T>A (p.Pro98=)
c.537T>A (p.Pro179=)
c.512T>A
n.534T>A
Xg.111410106G>ACA414246703DCXc.293C>T (p.Pro98Leu)
c.536C>T (p.Pro179Leu)
c.511C>T
n.533C>T
Xg.111410106G>CCA414246704DCXc.293C>G (p.Pro98Arg)
c.536C>G (p.Pro179Arg)
c.511C>G
n.533C>G
Xg.111410106G>TCA414246705DCXc.293C>A (p.Pro98His)
c.536C>A (p.Pro179His)
c.511C>A
n.533C>A
Xg.111410107G>ACA414246706DCXc.292C>T (p.Pro98Ser)
c.535C>T (p.Pro179Ser)
c.510C>T
n.532C>T
Xg.111410107G>CCA414246707DCXc.292C>G (p.Pro98Ala)
c.535C>G (p.Pro179Ala)
c.510C>G
n.532C>G
Xg.111410107G>TCA414246708DCXc.292C>A (p.Pro98Thr)
c.535C>A (p.Pro179Thr)
c.510C>A
n.532C>A

Number of alleles fetched