Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.66871069C>ACA312918PCc.616G>T (p.Val206Leu)
n.290-21004G>T
c.496G>T (p.Val166Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66871069C=CA1979904620PCc.616G= (p.Val206=)
n.290-21004G=
c.496G= (p.Val166=)
11g.66871069C>GCA381502042PCc.616G>C (p.Val206Leu)
n.290-21004G>C
c.496G>C (p.Val166Leu)
11g.66871069C>TCA381502043PCc.616G>A (p.Val206Met)
n.290-21004G>A
c.496G>A (p.Val166Met)
11g.66871070C>ACA381502044PCc.615G>T (p.Arg205Ser)
n.290-21005G>T
c.495G>T (p.Arg165Ser)
11g.66871070C>GCA381502045PCc.615G>C (p.Arg205Ser)
n.290-21005G>C
c.495G>C (p.Arg165Ser)
11g.66871070C>TCA475502469PCc.615G>A (p.Arg205=)
n.290-21005G>A
c.495G>A (p.Arg165=)
ClinVar dbSNP
11g.66871071C>ACA381502046PCc.614G>T (p.Arg205Met)
n.290-21006G>T
c.494G>T (p.Arg165Met)
11g.66871071C>GCA381502048PCc.614G>C (p.Arg205Thr)
n.290-21006G>C
c.494G>C (p.Arg165Thr)
11g.66871071C>TCA381502047PCc.614G>A (p.Arg205Lys)
n.290-21006G>A
c.494G>A (p.Arg165Lys)
gnomAD v4
11g.66871072T>ACA381502049PCc.613A>T (p.Arg205Trp)
n.290-21007A>T
c.493A>T (p.Arg165Trp)
11g.66871072T>CCA381502050PCc.613A>G (p.Arg205Gly)
n.290-21007A>G
c.493A>G (p.Arg165Gly)
11g.66871072T>GCA475502470PCc.613A>C (p.Arg205=)
n.290-21007A>C
c.493A>C (p.Arg165=)
11g.66871073C>ACA6132178PCc.612G>T (p.Met204Ile)
n.290-21008G>T
c.492G>T (p.Met164Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66871073C=CA1979904626PCc.612G= (p.Met204=)
n.290-21008G=
c.492G= (p.Met164=)
11g.66871073C>GCA381502051PCc.612G>C (p.Met204Ile)
n.290-21008G>C
c.492G>C (p.Met164Ile)
11g.66871073C>TCA381502052PCc.612G>A (p.Met204Ile)
n.290-21008G>A
c.492G>A (p.Met164Ile)
11g.66871076_66871095delCA2739270604PCc.593_612del (p.Gly198GlufsTer?)
n.290-21027_290-21008del
c.473_492del (p.Gly158GlufsTer?)
ClinVar
11g.66871074A>CCA381502053PCc.611T>G (p.Met204Arg)
n.290-21009T>G
c.491T>G (p.Met164Arg)
11g.66871074A>GCA381502054PCc.611T>C (p.Met204Thr)
n.290-21009T>C
c.491T>C (p.Met164Thr)
11g.66871074A>TCA381502055PCc.611T>A (p.Met204Lys)
n.290-21009T>A
c.491T>A (p.Met164Lys)
11g.66871075T>ACA381502056PCc.610A>T (p.Met204Leu)
n.290-21010A>T
c.490A>T (p.Met164Leu)
11g.66871075T>CCA381502057PCc.610A>G (p.Met204Val)
n.290-21010A>G
c.490A>G (p.Met164Val)
dbSNP gnomAD v4
11g.66871075T>GCA381502058PCc.610A>C (p.Met204Leu)
n.290-21010A>C
c.490A>C (p.Met164Leu)
ClinVar
11g.66871075T=CA1979904634PCc.610A= (p.Met204=)
n.290-21010A=
c.490A= (p.Met164=)
11g.66871076G>ACA475502473PCc.609C>T (p.Gly203=)
n.290-21011C>T
c.489C>T (p.Gly163=)
11g.66871076G>CCA475502476PCc.609C>G (p.Gly203=)
n.290-21011C>G
c.489C>G (p.Gly163=)
11g.66871076G>TCA475502478PCc.609C>A (p.Gly203=)
n.290-21011C>A
c.489C>A (p.Gly163=)
11g.66871077C>ACA381502061PCc.608G>T (p.Gly203Val)
n.290-21012G>T
c.488G>T (p.Gly163Val)
11g.66871077C>GCA381502060PCc.608G>C (p.Gly203Ala)
n.290-21012G>C
c.488G>C (p.Gly163Ala)
11g.66871077C>TCA381502059PCc.608G>A (p.Gly203Asp)
n.290-21012G>A
c.488G>A (p.Gly163Asp)
11g.66871078C>ACA381502062PCc.607G>T (p.Gly203Cys)
n.290-21013G>T
c.487G>T (p.Gly163Cys)
11g.66871078C>GCA381502063PCc.607G>C (p.Gly203Arg)
n.290-21013G>C
c.487G>C (p.Gly163Arg)
11g.66871078C>TCA381502064PCc.607G>A (p.Gly203Ser)
n.290-21013G>A
c.487G>A (p.Gly163Ser)
11g.66871079A>CCA475502479PCc.606T>G (p.Arg202=)
n.290-21014T>G
c.486T>G (p.Arg162=)
11g.66871079A>GCA475502481PCc.606T>C (p.Arg202=)
n.290-21014T>C
c.486T>C (p.Arg162=)
11g.66871079A>TCA475502483PCc.606T>A (p.Arg202=)
n.290-21014T>A
c.486T>A (p.Arg162=)
11g.66871079_66871088delinsTTCA2580084586PCc.597_606delinsAA (p.Gly200ArgfsTer?)
n.290-21023_290-21014delinsAA
c.477_486delinsAA (p.Gly160ArgfsTer?)
ClinVar
11g.66871080C>ACA381502065PCc.605G>T (p.Arg202Leu)
n.290-21015G>T
c.485G>T (p.Arg162Leu)
11g.66871080C=CA1979904640PCc.605G= (p.Arg202=)
n.290-21015G=
c.485G= (p.Arg162=)
11g.66871080C>GCA381502066PCc.605G>C (p.Arg202Pro)
n.290-21015G>C
c.485G>C (p.Arg162Pro)
11g.66871080C>TCA381502067PCc.605G>A (p.Arg202His)
n.290-21015G>A
c.485G>A (p.Arg162His)
dbSNP gnomAD v4 COSMIC COSMIC
11g.66871081G>ACA6132179PCc.604C>T (p.Arg202Cys)
n.290-21016C>T
c.484C>T (p.Arg162Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66871081G>CCA381502069PCc.604C>G (p.Arg202Gly)
n.290-21016C>G
c.484C>G (p.Arg162Gly)
11g.66871081G=CA1979904645PCc.604C= (p.Arg202=)
n.290-21016C=
c.484C= (p.Arg162=)
11g.66871081G>TCA381502068PCc.604C>A (p.Arg202Ser)
n.290-21016C>A
c.484C>A (p.Arg162Ser)
dbSNP gnomAD v2 gnomAD v4
11g.66871082C>ACA475502489PCc.603G>T (p.Gly201=)
n.290-21017G>T
c.483G>T (p.Gly161=)
11g.66871082C>GCA475502486PCc.603G>C (p.Gly201=)
n.290-21017G>C
c.483G>C (p.Gly161=)
11g.66871082C>TCA475502488PCc.603G>A (p.Gly201=)
n.290-21017G>A
c.483G>A (p.Gly161=)
11g.66871083C>ACA381502070PCc.602G>T (p.Gly201Val)
n.290-21018G>T
c.482G>T (p.Gly161Val)
11g.66871083C>GCA381502071PCc.602G>C (p.Gly201Ala)
n.290-21018G>C
c.482G>C (p.Gly161Ala)
11g.66871083C>TCA381502072PCc.602G>A (p.Gly201Glu)
n.290-21018G>A
c.482G>A (p.Gly161Glu)
11g.66871084C>ACA381502073PCc.601G>T (p.Gly201Trp)
n.290-21019G>T
c.481G>T (p.Gly161Trp)
11g.66871084C>GCA381502074PCc.601G>C (p.Gly201Arg)
n.290-21019G>C
c.481G>C (p.Gly161Arg)
11g.66871084C>TCA381502075PCc.601G>A (p.Gly201Arg)
n.290-21019G>A
c.481G>A (p.Gly161Arg)
11g.66871085T>ACA475502490PCc.600A>T (p.Gly200=)
n.290-21020A>T
c.480A>T (p.Gly160=)
11g.66871085T>CCA6132180PCc.600A>G (p.Gly200=)
n.290-21020A>G
c.480A>G (p.Gly160=)
dbSNP ExAC
11g.66871085T>GCA475502492PCc.600A>C (p.Gly200=)
n.290-21020A>C
c.480A>C (p.Gly160=)
ClinVar
11g.66871085T=CA1979904650PCc.600A= (p.Gly200=)
n.290-21020A=
c.480A= (p.Gly160=)
11g.66871086C>ACA381502076PCc.599G>T (p.Gly200Val)
n.290-21021G>T
c.479G>T (p.Gly160Val)
11g.66871086C>GCA381502078PCc.599G>C (p.Gly200Ala)
n.290-21021G>C
c.479G>C (p.Gly160Ala)
11g.66871086C>TCA381502077PCc.599G>A (p.Gly200Glu)
n.290-21021G>A
c.479G>A (p.Gly160Glu)
11g.66871087C>ACA381502079PCc.598G>T (p.Gly200Ter)
n.290-21022G>T
c.478G>T (p.Gly160Ter)
11g.66871087C>GCA381502080PCc.598G>C (p.Gly200Arg)
n.290-21022G>C
c.478G>C (p.Gly160Arg)
11g.66871087C>TCA381502081PCc.598G>A (p.Gly200Arg)
n.290-21022G>A
c.478G>A (p.Gly160Arg)
11g.66871088A=CA1979904660PCc.597T= (p.Gly199=)
n.290-21023T=
c.477T= (p.Gly159=)
11g.66871088A>CCA475502497PCc.597T>G (p.Gly199=)
n.290-21023T>G
c.477T>G (p.Gly159=)
dbSNP
11g.66871088A>GCA475502495PCc.597T>C (p.Gly199=)
n.290-21023T>C
c.477T>C (p.Gly159=)
11g.66871088A>TCA475502498PCc.597T>A (p.Gly199=)
n.290-21023T>A
c.477T>A (p.Gly159=)
ClinVar dbSNP
11g.66871089C>ACA381502082PCc.596G>T (p.Gly199Val)
n.290-21024G>T
c.476G>T (p.Gly159Val)
dbSNP gnomAD v2 gnomAD v4
11g.66871089C=CA1979904668PCc.596G= (p.Gly199=)
n.290-21024G=
c.476G= (p.Gly159=)
11g.66871089C>GCA381502083PCc.596G>C (p.Gly199Ala)
n.290-21024G>C
c.476G>C (p.Gly159Ala)
dbSNP gnomAD v2 gnomAD v4
11g.66871089C>TCA381502084PCc.596G>A (p.Gly199Asp)
n.290-21024G>A
c.476G>A (p.Gly159Asp)
11g.66871093dupCA645580236PCc.596dup (p.Gly200TrpfsTer?)
n.290-21024dup
c.476dup (p.Gly160TrpfsTer?)
COSMIC COSMIC
11g.66871090C>ACA381502085PCc.595G>T (p.Gly199Cys)
n.290-21025G>T
c.475G>T (p.Gly159Cys)
11g.66871090C>GCA381502086PCc.595G>C (p.Gly199Arg)
n.290-21025G>C
c.475G>C (p.Gly159Arg)
11g.66871090C>TCA381502087PCc.595G>A (p.Gly199Ser)
n.290-21025G>A
c.475G>A (p.Gly159Ser)
11g.66871091C>ACA475502500PCc.594G>T (p.Gly198=)
n.290-21026G>T
c.474G>T (p.Gly158=)
11g.66871091C=CA1979904673PCc.594G= (p.Gly198=)
n.290-21026G=
c.474G= (p.Gly158=)
11g.66871091C>GCA475502502PCc.594G>C (p.Gly198=)
n.290-21026G>C
c.474G>C (p.Gly158=)
11g.66871091C>TCA475502504PCc.594G>A (p.Gly198=)
n.290-21026G>A
c.474G>A (p.Gly158=)
dbSNP gnomAD v2 gnomAD v4
11g.66871092C>ACA381502088PCc.593G>T (p.Gly198Val)
n.290-21027G>T
c.473G>T (p.Gly158Val)
11g.66871092C>GCA381502089PCc.593G>C (p.Gly198Ala)
n.290-21027G>C
c.473G>C (p.Gly158Ala)
11g.66871092C>TCA381502090PCc.593G>A (p.Gly198Glu)
n.290-21027G>A
c.473G>A (p.Gly158Glu)
11g.66871093C>ACA381502091PCc.592G>T (p.Gly198Trp)
n.290-21028G>T
c.472G>T (p.Gly158Trp)
11g.66871093C>GCA381502093PCc.592G>C (p.Gly198Arg)
n.290-21028G>C
c.472G>C (p.Gly158Arg)
11g.66871093C>TCA381502092PCc.592G>A (p.Gly198Arg)
n.290-21028G>A
c.472G>A (p.Gly158Arg)
11g.66871094A>CCA381502094PCc.591T>G (p.Tyr197Ter)
n.290-21029T>G
c.471T>G (p.Tyr157Ter)
11g.66871094A>GCA475502509PCc.591T>C (p.Tyr197=)
n.290-21029T>C
c.471T>C (p.Tyr157=)
11g.66871094A>TCA381502095PCc.591T>A (p.Tyr197Ter)
n.290-21029T>A
c.471T>A (p.Tyr157Ter)
11g.66871095T>ACA381502096PCc.590A>T (p.Tyr197Phe)
n.290-21030A>T
c.470A>T (p.Tyr157Phe)
11g.66871095T>CCA224094891PCc.590A>G (p.Tyr197Cys)
n.290-21030A>G
c.470A>G (p.Tyr157Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.66871095T>GCA381502097PCc.590A>C (p.Tyr197Ser)
n.290-21030A>C
c.470A>C (p.Tyr157Ser)
11g.66871095T=CA1979904681PCc.590A= (p.Tyr197=)
n.290-21030A=
c.470A= (p.Tyr157=)
11g.66871096A>CCA381502098PCc.589T>G (p.Tyr197Asp)
n.290-21031T>G
c.469T>G (p.Tyr157Asp)
11g.66871096A>GCA381502099PCc.589T>C (p.Tyr197His)
n.290-21031T>C
c.469T>C (p.Tyr157His)
11g.66871096A>TCA381502100PCc.589T>A (p.Tyr197Asn)
n.290-21031T>A
c.469T>A (p.Tyr157Asn)
11g.66871097G>ACA475502511PCc.588C>T (p.Ala196=)
n.290-21032C>T
c.468C>T (p.Ala156=)
11g.66871097G>CCA475502512PCc.588C>G (p.Ala196=)
n.290-21032C>G
c.468C>G (p.Ala156=)
11g.66871097G>TCA475502513PCc.588C>A (p.Ala196=)
n.290-21032C>A
c.468C>A (p.Ala156=)
11g.66871098G>ACA381502101PCc.587C>T (p.Ala196Val)
n.290-21033C>T
c.467C>T (p.Ala156Val)
11g.66871098G>CCA381502102PCc.587C>G (p.Ala196Gly)
n.290-21033C>G
c.467C>G (p.Ala156Gly)
11g.66871098G>TCA381502103PCc.587C>A (p.Ala196Asp)
n.290-21033C>A
c.467C>A (p.Ala156Asp)
11g.66871099C>ACA381502104PCc.586G>T (p.Ala196Ser)
n.290-21034G>T
c.466G>T (p.Ala156Ser)
11g.66871099C=CA1979904686PCc.586G= (p.Ala196=)
n.290-21034G=
c.466G= (p.Ala156=)
11g.66871099C>GCA381502105PCc.586G>C (p.Ala196Pro)
n.290-21034G>C
c.466G>C (p.Ala156Pro)
11g.66871099C>TCA381502106PCc.586G>A (p.Ala196Thr)
n.290-21034G>A
c.466G>A (p.Ala156Thr)
dbSNP gnomAD v2 gnomAD v4
11g.66871100C>ACA6132182PCc.585G>T (p.Ala195=)
n.290-21035G>T
c.465G>T (p.Ala155=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66871100C=CA1979904689PCc.585G= (p.Ala195=)
n.290-21035G=
c.465G= (p.Ala155=)
11g.66871100C>GCA475502516PCc.585G>C (p.Ala195=)
n.290-21035G>C
c.465G>C (p.Ala155=)
ClinVar dbSNP
11g.66871100C>TCA6132181PCc.585G>A (p.Ala195=)
n.290-21035G>A
c.465G>A (p.Ala155=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66871101G>ACA381502107PCc.584C>T (p.Ala195Val)
n.290-21036C>T
c.464C>T (p.Ala155Val)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.66871101G>CCA381502108PCc.584C>G (p.Ala195Gly)
n.290-21036C>G
c.464C>G (p.Ala155Gly)
11g.66871101G=CA1979904698PCc.584C= (p.Ala195=)
n.290-21036C=
c.464C= (p.Ala155=)
11g.66871101G>TCA381502109PCc.584C>A (p.Ala195Glu)
n.290-21036C>A
c.464C>A (p.Ala155Glu)
11g.66871102C>ACA381502110PCc.583G>T (p.Ala195Ser)
n.290-21037G>T
c.463G>T (p.Ala155Ser)
11g.66871102C>GCA381502111PCc.583G>C (p.Ala195Pro)
n.290-21037G>C
c.463G>C (p.Ala155Pro)
11g.66871102C>TCA381502112PCc.583G>A (p.Ala195Thr)
n.290-21037G>A
c.463G>A (p.Ala155Thr)
11g.66871103C>ACA381502113PCc.582G>T (p.Lys194Asn)
n.290-21038G>T
c.462G>T (p.Lys154Asn)
11g.66871103C>GCA381502114PCc.582G>C (p.Lys194Asn)
n.290-21038G>C
c.462G>C (p.Lys154Asn)
11g.66871103C>TCA475502518PCc.582G>A (p.Lys194=)
n.290-21038G>A
c.462G>A (p.Lys154=)
11g.66871104T>ACA381502115PCc.581A>T (p.Lys194Met)
n.290-21039A>T
c.461A>T (p.Lys154Met)
11g.66871104T>CCA381502116PCc.581A>G (p.Lys194Arg)
n.290-21039A>G
c.461A>G (p.Lys154Arg)
11g.66871104T>GCA381502117PCc.581A>C (p.Lys194Thr)
n.290-21039A>C
c.461A>C (p.Lys154Thr)
11g.66871105T>ACA381502120PCc.580A>T (p.Lys194Ter)
n.290-21040A>T
c.460A>T (p.Lys154Ter)
11g.66871105T>CCA381502119PCc.580A>G (p.Lys194Glu)
n.290-21040A>G
c.460A>G (p.Lys154Glu)
11g.66871105T>GCA381502118PCc.580A>C (p.Lys194Gln)
n.290-21040A>C
c.460A>C (p.Lys154Gln)
11g.66871106G>ACA475502520PCc.579C>T (p.Phe193=)
n.290-21041C>T
c.459C>T (p.Phe153=)
11g.66871106G>CCA381502121PCc.579C>G (p.Phe193Leu)
n.290-21041C>G
c.459C>G (p.Phe153Leu)
11g.66871106G=CA1979904706PCc.579C= (p.Phe193=)
n.290-21041C=
c.459C= (p.Phe153=)
11g.66871106G>TCA381502122PCc.579C>A (p.Phe193Leu)
n.290-21041C>A
c.459C>A (p.Phe153Leu)
dbSNP gnomAD v4
11g.66871107A>CCA381502123PCc.578T>G (p.Phe193Cys)
n.290-21042T>G
c.458T>G (p.Phe153Cys)
gnomAD v4
11g.66871107A>GCA381502125PCc.578T>C (p.Phe193Ser)
n.290-21042T>C
c.458T>C (p.Phe153Ser)
11g.66871107A>TCA381502124PCc.578T>A (p.Phe193Tyr)
n.290-21042T>A
c.458T>A (p.Phe153Tyr)
11g.66871108A>CCA381502126PCc.577T>G (p.Phe193Val)
n.290-21043T>G
c.457T>G (p.Phe153Val)
11g.66871108A>GCA381502128PCc.577T>C (p.Phe193Leu)
n.290-21043T>C
c.457T>C (p.Phe153Leu)
11g.66871108A>TCA381502127PCc.577T>A (p.Phe193Ile)
n.290-21043T>A
c.457T>A (p.Phe153Ile)
11g.66871109G>ACA475502524PCc.576C>T (p.Ile192=)
n.290-21044C>T
c.456C>T (p.Ile152=)
dbSNP gnomAD v2 gnomAD v4
11g.66871109G>CCA381502129PCc.576C>G (p.Ile192Met)
n.290-21044C>G
c.456C>G (p.Ile152Met)
11g.66871109G=CA1979904708PCc.576C= (p.Ile192=)
n.290-21044C=
c.456C= (p.Ile152=)
11g.66871109G>TCA6132183PCc.576C>A (p.Ile192=)
n.290-21044C>A
c.456C>A (p.Ile152=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66871110A>CCA381502130PCc.575T>G (p.Ile192Ser)
n.290-21045T>G
c.455T>G (p.Ile152Ser)
11g.66871110A>GCA381502131PCc.575T>C (p.Ile192Thr)
n.290-21045T>C
c.455T>C (p.Ile152Thr)
11g.66871110A>TCA381502132PCc.575T>A (p.Ile192Asn)
n.290-21045T>A
c.455T>A (p.Ile152Asn)
11g.66871111T>ACA381502133PCc.574A>T (p.Ile192Phe)
n.290-21046A>T
c.454A>T (p.Ile152Phe)
11g.66871111T>CCA381502134PCc.574A>G (p.Ile192Val)
n.290-21046A>G
c.454A>G (p.Ile152Val)
11g.66871111T>GCA381502135PCc.574A>C (p.Ile192Leu)
n.290-21046A>C
c.454A>C (p.Ile152Leu)
11g.66871112G>ACA475502526PCc.573C>T (p.Ile191=)
n.290-21047C>T
c.453C>T (p.Ile151=)
11g.66871112G>CCA381502136PCc.573C>G (p.Ile191Met)
n.290-21047C>G
c.453C>G (p.Ile151Met)
11g.66871112G>TCA475502525PCc.573C>A (p.Ile191=)
n.290-21047C>A
c.453C>A (p.Ile151=)
11g.66871113A>CCA381502137PCc.572T>G (p.Ile191Ser)
n.290-21048T>G
c.452T>G (p.Ile151Ser)
11g.66871113A>GCA381502138PCc.572T>C (p.Ile191Thr)
n.290-21048T>C
c.452T>C (p.Ile151Thr)
gnomAD v4
11g.66871113A>TCA381502139PCc.572T>A (p.Ile191Asn)
n.290-21048T>A
c.452T>A (p.Ile151Asn)
11g.66871114T>ACA381502140PCc.571A>T (p.Ile191Phe)
n.290-21049A>T
c.451A>T (p.Ile151Phe)
11g.66871114T>CCA312884PCc.571A>G (p.Ile191Val)
n.290-21049A>G
c.451A>G (p.Ile151Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66871114T>GCA381502141PCc.571A>C (p.Ile191Leu)
n.290-21049A>C
c.451A>C (p.Ile151Leu)
dbSNP
11g.66871114T=CA1979904714PCc.571A= (p.Ile191=)
n.290-21049A=
c.451A= (p.Ile151=)
11g.66871115G>ACA475502528PCc.570C>T (p.Pro190=)
n.290-21050C>T
c.450C>T (p.Pro150=)
ClinVar dbSNP gnomAD v4
11g.66871115G>CCA475502530PCc.570C>G (p.Pro190=)
n.290-21050C>G
c.450C>G (p.Pro150=)
11g.66871115G=CA1979904720PCc.570C= (p.Pro190=)
n.290-21050C=
c.450C= (p.Pro150=)
11g.66871115G>TCA475502529PCc.570C>A (p.Pro190=)
n.290-21050C>A
c.450C>A (p.Pro150=)
11g.66871116G>ACA381502142PCc.569C>T (p.Pro190Leu)
n.290-21051C>T
c.449C>T (p.Pro150Leu)
11g.66871116G>CCA381502144PCc.569C>G (p.Pro190Arg)
n.290-21051C>G
c.449C>G (p.Pro150Arg)
11g.66871116G>TCA381502143PCc.569C>A (p.Pro190His)
n.290-21051C>A
c.449C>A (p.Pro150His)
11g.66871117G>ACA381502145PCc.568C>T (p.Pro190Ser)
n.290-21052C>T
c.448C>T (p.Pro150Ser)
11g.66871117G>CCA381502146PCc.568C>G (p.Pro190Ala)
n.290-21052C>G
c.448C>G (p.Pro150Ala)
11g.66871117G>TCA381502147PCc.568C>A (p.Pro190Thr)
n.290-21052C>A
c.448C>A (p.Pro150Thr)
11g.66871118G>ACA6132184PCc.567C>T (p.Phe189=)
n.290-21053C>T
c.447C>T (p.Phe149=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.66871118G>CCA381502148PCc.567C>G (p.Phe189Leu)
n.290-21053C>G
c.447C>G (p.Phe149Leu)
11g.66871118G=CA1979904726PCc.567C= (p.Phe189=)
n.290-21053C=
c.447C= (p.Phe149=)
11g.66871118G>TCA381502149PCc.567C>A (p.Phe189Leu)
n.290-21053C>A
c.447C>A (p.Phe149Leu)
11g.66871119A>CCA381502150PCc.566T>G (p.Phe189Cys)
n.290-21054T>G
c.446T>G (p.Phe149Cys)
11g.66871119A>GCA381502151PCc.566T>C (p.Phe189Ser)
n.290-21054T>C
c.446T>C (p.Phe149Ser)
11g.66871119A>TCA381502152PCc.566T>A (p.Phe189Tyr)
n.290-21054T>A
c.446T>A (p.Phe149Tyr)
11g.66871120A>CCA381502155PCc.565T>G (p.Phe189Val)
n.290-21055T>G
c.445T>G (p.Phe149Val)
11g.66871120A>GCA381502154PCc.565T>C (p.Phe189Leu)
n.290-21055T>C
c.445T>C (p.Phe149Leu)
11g.66871120A>TCA381502153PCc.565T>A (p.Phe189Ile)
n.290-21055T>A
c.445T>A (p.Phe149Ile)
11g.66871121G>ACA475502537PCc.564C>T (p.Gly188=)
n.290-21056C>T
c.444C>T (p.Gly148=)
ClinVar
11g.66871121G>CCA475502538PCc.564C>G (p.Gly188=)
n.290-21056C>G
c.444C>G (p.Gly148=)
11g.66871121G>TCA475502539PCc.564C>A (p.Gly188=)
n.290-21056C>A
c.444C>A (p.Gly148=)
11g.66871122C>ACA381502156PCc.563G>T (p.Gly188Val)
n.290-21057G>T
c.443G>T (p.Gly148Val)
ClinVar dbSNP
11g.66871122C=CA1979904742PCc.563G= (p.Gly188=)
n.290-21057G=
c.443G= (p.Gly148=)
11g.66871122C>GCA381502157PCc.563G>C (p.Gly188Ala)
n.290-21057G>C
c.443G>C (p.Gly148Ala)
11g.66871122C>TCA381502158PCc.563G>A (p.Gly188Asp)
n.290-21057G>A
c.443G>A (p.Gly148Asp)
gnomAD v4
11g.66871123C>ACA381502159PCc.562G>T (p.Gly188Cys)
n.290-21058G>T
c.442G>T (p.Gly148Cys)
gnomAD v4
11g.66871123C=CA1979904755PCc.562G= (p.Gly188=)
n.290-21058G=
c.442G= (p.Gly148=)
11g.66871123C>GCA381502160PCc.562G>C (p.Gly188Arg)
n.290-21058G>C
c.442G>C (p.Gly148Arg)
11g.66871123C>TCA6132185PCc.562G>A (p.Gly188Ser)
n.290-21058G>A
c.442G>A (p.Gly148Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66871124G>ACA6132186PCc.561C>T (p.Tyr187=)
n.290-21059C>T
c.441C>T (p.Tyr147=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66871124G>CCA381502161PCc.561C>G (p.Tyr187Ter)
n.290-21059C>G
c.441C>G (p.Tyr147Ter)
11g.66871124G=CA1979904757PCc.561C= (p.Tyr187=)
n.290-21059C=
c.441C= (p.Tyr147=)
11g.66871124G>TCA381502162PCc.561C>A (p.Tyr187Ter)
n.290-21059C>A
c.441C>A (p.Tyr147Ter)
11g.66871125T>ACA381502163PCc.560A>T (p.Tyr187Phe)
n.290-21060A>T
c.440A>T (p.Tyr147Phe)
gnomAD v4
11g.66871125T>CCA6132187PCc.560A>G (p.Tyr187Cys)
n.290-21060A>G
c.440A>G (p.Tyr147Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66871125T>GCA381502164PCc.560A>C (p.Tyr187Ser)
n.290-21060A>C
c.440A>C (p.Tyr147Ser)
11g.66871125T=CA1979904766PCc.560A= (p.Tyr187=)
n.290-21060A=
c.440A= (p.Tyr147=)
11g.66871126A>CCA381502167PCc.559T>G (p.Tyr187Asp)
n.290-21061T>G
c.439T>G (p.Tyr147Asp)
11g.66871126A>GCA381502165PCc.559T>C (p.Tyr187His)
n.290-21061T>C
c.439T>C (p.Tyr147His)
11g.66871126A>TCA381502166PCc.559T>A (p.Tyr187Asn)
n.290-21061T>A
c.439T>A (p.Tyr147Asn)
11g.66871127G>ACA475502543PCc.558C>T (p.Thr186=)
n.290-21062C>T
c.438C>T (p.Thr146=)
11g.66871127G>CCA475502544PCc.558C>G (p.Thr186=)
n.290-21062C>G
c.438C>G (p.Thr146=)
11g.66871127G>TCA475502545PCc.558C>A (p.Thr186=)
n.290-21062C>A
c.438C>A (p.Thr146=)
11g.66871128G>ACA381502168PCc.557C>T (p.Thr186Ile)
n.290-21063C>T
c.437C>T (p.Thr146Ile)
gnomAD v4
11g.66871128G>CCA381502169PCc.557C>G (p.Thr186Ser)
n.290-21063C>G
c.437C>G (p.Thr146Ser)
11g.66871128G>TCA381502170PCc.557C>A (p.Thr186Asn)
n.290-21063C>A
c.437C>A (p.Thr146Asn)
11g.66871129T>ACA381502171PCc.556A>T (p.Thr186Ser)
n.290-21064A>T
c.436A>T (p.Thr146Ser)
11g.66871129T>CCA381502172PCc.556A>G (p.Thr186Ala)
n.290-21064A>G
c.436A>G (p.Thr146Ala)
11g.66871129T>GCA381502173PCc.556A>C (p.Thr186Pro)
n.290-21064A>C
c.436A>C (p.Thr146Pro)
dbSNP
11g.66871129T=CA1979904791PCc.556A= (p.Thr186=)
n.290-21064A=
c.436A= (p.Thr146=)
11g.66871130G>ACA475502549PCc.555C>T (p.Asn185=)
n.290-21065C>T
c.435C>T (p.Asn145=)
11g.66871130G>CCA381502174PCc.555C>G (p.Asn185Lys)
n.290-21065C>G
c.435C>G (p.Asn145Lys)
11g.66871130G>TCA381502175PCc.555C>A (p.Asn185Lys)
n.290-21065C>A
c.435C>A (p.Asn145Lys)
11g.66871131T>ACA381502176PCc.554A>T (p.Asn185Ile)
n.290-21066A>T
c.434A>T (p.Asn145Ile)
11g.66871131T>CCA381502177PCc.554A>G (p.Asn185Ser)
n.290-21066A>G
c.434A>G (p.Asn145Ser)
11g.66871131T>GCA381502178PCc.554A>C (p.Asn185Thr)
n.290-21066A>C
c.434A>C (p.Asn145Thr)
11g.66871132T>ACA381502180PCc.553A>T (p.Asn185Tyr)
n.290-21067A>T
c.433A>T (p.Asn145Tyr)
11g.66871132T>CCA381502181PCc.553A>G (p.Asn185Asp)
n.290-21067A>G
c.433A>G (p.Asn145Asp)
11g.66871132T>GCA381502179PCc.553A>C (p.Asn185His)
n.290-21067A>C
c.433A>C (p.Asn145His)
11g.66871133G>ACA475502551PCc.552C>T (p.Ser184=)
n.290-21068C>T
c.432C>T (p.Ser144=)
ClinVar dbSNP
11g.66871133G>CCA475502552PCc.552C>G (p.Ser184=)
n.290-21068C>G
c.432C>G (p.Ser144=)
11g.66871133G=CA1979904799PCc.552C= (p.Ser184=)
n.290-21068C=
c.432C= (p.Ser144=)
11g.66871133G>TCA475502553PCc.552C>A (p.Ser184=)
n.290-21068C>A
c.432C>A (p.Ser144=)
11g.66871134G>ACA381502184PCc.551C>T (p.Ser184Phe)
n.290-21069C>T
c.431C>T (p.Ser144Phe)
11g.66871134G>CCA381502182PCc.551C>G (p.Ser184Cys)
n.290-21069C>G
c.431C>G (p.Ser144Cys)
ClinVar dbSNP gnomAD v4
11g.66871134G=CA1979904802PCc.551C= (p.Ser184=)
n.290-21069C=
c.431C= (p.Ser144=)
11g.66871134G>TCA381502183PCc.551C>A (p.Ser184Tyr)
n.290-21069C>A
c.431C>A (p.Ser144Tyr)
11g.66871135A>CCA381502185PCc.550T>G (p.Ser184Ala)
n.290-21070T>G
c.430T>G (p.Ser144Ala)
gnomAD v4
11g.66871135A>GCA381502186PCc.550T>C (p.Ser184Pro)
n.290-21070T>C
c.430T>C (p.Ser144Pro)
11g.66871135A>TCA381502187PCc.550T>A (p.Ser184Thr)
n.290-21070T>A
c.430T>A (p.Ser144Thr)
11g.66871136G>ACA475502557PCc.549C>T (p.Phe183=)
n.290-21071C>T
c.429C>T (p.Phe143=)
11g.66871136G>CCA381502188PCc.549C>G (p.Phe183Leu)
n.290-21071C>G
c.429C>G (p.Phe143Leu)
11g.66871136G>TCA381502189PCc.549C>A (p.Phe183Leu)
n.290-21071C>A
c.429C>A (p.Phe143Leu)
11g.66871137A>CCA381502190PCc.548T>G (p.Phe183Cys)
n.290-21072T>G
c.428T>G (p.Phe143Cys)
11g.66871137A>GCA381502191PCc.548T>C (p.Phe183Ser)
n.290-21072T>C
c.428T>C (p.Phe143Ser)
11g.66871137A>TCA381502192PCc.548T>A (p.Phe183Tyr)
n.290-21072T>A
c.428T>A (p.Phe143Tyr)
11g.66871138A>CCA381502193PCc.547T>G (p.Phe183Val)
n.290-21073T>G
c.427T>G (p.Phe143Val)
11g.66871138A>GCA381502194PCc.547T>C (p.Phe183Leu)
n.290-21073T>C
c.427T>C (p.Phe143Leu)
gnomAD v4
11g.66871138A>TCA381502195PCc.547T>A (p.Phe183Ile)
n.290-21073T>A
c.427T>A (p.Phe143Ile)
11g.66871139C>ACA381502196PCc.546G>T (p.Glu182Asp)
n.290-21074G>T
c.426G>T (p.Glu142Asp)
11g.66871139C>GCA381502197PCc.546G>C (p.Glu182Asp)
n.290-21074G>C
c.426G>C (p.Glu142Asp)
11g.66871139C>TCA475502561PCc.546G>A (p.Glu182=)
n.290-21074G>A
c.426G>A (p.Glu142=)
11g.66871140T>ACA381502198PCc.545A>T (p.Glu182Val)
n.290-21075A>T
c.425A>T (p.Glu142Val)
11g.66871140T>CCA381502199PCc.545A>G (p.Glu182Gly)
n.290-21075A>G
c.425A>G (p.Glu142Gly)
gnomAD v4
11g.66871140T>GCA381502200PCc.545A>C (p.Glu182Ala)
n.290-21075A>C
c.425A>C (p.Glu142Ala)
11g.66871141C>ACA381502201PCc.544G>T (p.Glu182Ter)
n.290-21076G>T
c.424G>T (p.Glu142Ter)
COSMIC COSMIC
11g.66871141C=CA1979904812PCc.544G= (p.Glu182=)
n.290-21076G=
c.424G= (p.Glu142=)
11g.66871141C>GCA381502202PCc.544G>C (p.Glu182Gln)
n.290-21076G>C
c.424G>C (p.Glu142Gln)
11g.66871141C>TCA6132188PCc.544G>A (p.Glu182Lys)
n.290-21076G>A
c.424G>A (p.Glu142Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66871142G>ACA6132189PCc.543C>T (p.His181=)
n.290-21077C>T
c.423C>T (p.His141=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.66871142G>CCA381502203PCc.543C>G (p.His181Gln)
n.290-21077C>G
c.423C>G (p.His141Gln)
11g.66871142G=CA1979904822PCc.543C= (p.His181=)
n.290-21077C=
c.423C= (p.His141=)
11g.66871142G>TCA381502204PCc.543C>A (p.His181Gln)
n.290-21077C>A
c.423C>A (p.His141Gln)
gnomAD v4
11g.66871143T>ACA381502205PCc.542A>T (p.His181Leu)
n.290-21078A>T
c.422A>T (p.His141Leu)
11g.66871143T>CCA381502206PCc.542A>G (p.His181Arg)
n.290-21078A>G
c.422A>G (p.His141Arg)
dbSNP gnomAD v4
11g.66871143T>GCA381502207PCc.542A>C (p.His181Pro)
n.290-21078A>C
c.422A>C (p.His141Pro)
11g.66871143T=CA1979904832PCc.542A= (p.His181=)
n.290-21078A=
c.422A= (p.His141=)
11g.66871144G>ACA381502209PCc.541C>T (p.His181Tyr)
n.290-21079C>T
c.421C>T (p.His141Tyr)
11g.66871144G>CCA381502210PCc.541C>G (p.His181Asp)
n.290-21079C>G
c.421C>G (p.His141Asp)
11g.66871144G>TCA381502208PCc.541C>A (p.His181Asn)
n.290-21079C>A
c.421C>A (p.His141Asn)
11g.66871145G>ACA475502565PCc.540C>T (p.Ala180=)
n.290-21080C>T
c.420C>T (p.Ala140=)
11g.66871145G>CCA475502566PCc.540C>G (p.Ala180=)
n.290-21080C>G
c.420C>G (p.Ala140=)
gnomAD v4
11g.66871145G>TCA475502567PCc.540C>A (p.Ala180=)
n.290-21080C>A
c.420C>A (p.Ala140=)
11g.66871146G>ACA381502211PCc.539C>T (p.Ala180Val)
n.290-21081C>T
c.419C>T (p.Ala140Val)
11g.66871146G>CCA381502212PCc.539C>G (p.Ala180Gly)
n.290-21081C>G
c.419C>G (p.Ala140Gly)
11g.66871146G>TCA381502213PCc.539C>A (p.Ala180Asp)
n.290-21081C>A
c.419C>A (p.Ala140Asp)
11g.66871147C>ACA381502214PCc.538G>T (p.Ala180Ser)
n.290-21082G>T
c.418G>T (p.Ala140Ser)
11g.66871147C>GCA381502215PCc.538G>C (p.Ala180Pro)
n.290-21082G>C
c.418G>C (p.Ala140Pro)
11g.66871147C>TCA381502216PCc.538G>A (p.Ala180Thr)
n.290-21082G>A
c.418G>A (p.Ala140Thr)
11g.66871148C>ACA381502217PCc.537G>T (p.Glu179Asp)
n.290-21083G>T
c.417G>T (p.Glu139Asp)
dbSNP gnomAD v4
11g.66871148C=CA1979904839PCc.537G= (p.Glu179=)
n.290-21083G=
c.417G= (p.Glu139=)
11g.66871148C>GCA381502218PCc.537G>C (p.Glu179Asp)
n.290-21083G>C
c.417G>C (p.Glu139Asp)
11g.66871148C>TCA224094975PCc.537G>A (p.Glu179=)
n.290-21083G>A
c.417G>A (p.Glu139=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.66871149T>ACA381502219PCc.536A>T (p.Glu179Val)
n.290-21084A>T
c.416A>T (p.Glu139Val)
11g.66871149T>CCA381502220PCc.536A>G (p.Glu179Gly)
n.290-21084A>G
c.416A>G (p.Glu139Gly)
11g.66871149T>GCA381502221PCc.536A>C (p.Glu179Ala)
n.290-21084A>C
c.416A>C (p.Glu139Ala)
11g.66871150C>ACA381502223PCc.535G>T (p.Glu179Ter)
n.290-21085G>T
c.415G>T (p.Glu139Ter)
11g.66871150C>GCA381502224PCc.535G>C (p.Glu179Gln)
n.290-21085G>C
c.415G>C (p.Glu139Gln)
11g.66871150C>TCA381502222PCc.535G>A (p.Glu179Lys)
n.290-21085G>A
c.415G>A (p.Glu139Lys)
11g.66871151A>CCA381502225PCc.534T>G (p.His178Gln)
n.290-21086T>G
c.414T>G (p.His138Gln)
11g.66871151A>GCA475502575PCc.534T>C (p.His178=)
n.290-21086T>C
c.414T>C (p.His138=)
11g.66871151A>TCA381502226PCc.534T>A (p.His178Gln)
n.290-21086T>A
c.414T>A (p.His138Gln)
11g.66871152T>ACA381502227PCc.533A>T (p.His178Leu)
n.290-21087A>T
c.413A>T (p.His138Leu)
gnomAD v4
11g.66871152T>CCA381502228PCc.533A>G (p.His178Arg)
n.290-21087A>G
c.413A>G (p.His138Arg)
gnomAD v4
11g.66871152T>GCA381502229PCc.533A>C (p.His178Pro)
n.290-21087A>C
c.413A>C (p.His138Pro)
dbSNP gnomAD v3 gnomAD v4
11g.66871153G>ACA381502232PCc.532C>T (p.His178Tyr)
n.290-21088C>T
c.412C>T (p.His138Tyr)
11g.66871153G>CCA381502231PCc.532C>G (p.His178Asp)
n.290-21088C>G
c.412C>G (p.His138Asp)
11g.66871153G>TCA381502230PCc.532C>A (p.His178Asn)
n.290-21088C>A
c.412C>A (p.His138Asn)
11g.66871154C>ACA475502582PCc.531G>T (p.Leu177=)
n.290-21089G>T
c.411G>T (p.Leu137=)
11g.66871154C>GCA475502580PCc.531G>C (p.Leu177=)
n.290-21089G>C
c.411G>C (p.Leu137=)
COSMIC COSMIC
11g.66871154C>TCA475502578PCc.531G>A (p.Leu177=)
n.290-21089G>A
c.411G>A (p.Leu137=)
ClinVar dbSNP
11g.66871155A>CCA381502233PCc.530T>G (p.Leu177Arg)
n.290-21090T>G
c.410T>G (p.Leu137Arg)
11g.66871155A>GCA381502234PCc.530T>C (p.Leu177Pro)
n.290-21090T>C
c.410T>C (p.Leu137Pro)
11g.66871155A>TCA381502235PCc.530T>A (p.Leu177Gln)
n.290-21090T>A
c.410T>A (p.Leu137Gln)
11g.66871156G>ACA475502584PCc.529C>T (p.Leu177=)
n.290-21091C>T
c.409C>T (p.Leu137=)
11g.66871156G>CCA381502236PCc.529C>G (p.Leu177Val)
n.290-21091C>G
c.409C>G (p.Leu137Val)
11g.66871156G>TCA381502237PCc.529C>A (p.Leu177Met)
n.290-21091C>A
c.409C>A (p.Leu137Met)
COSMIC COSMIC
11g.66871157G>ACA6132190PCc.528C>T (p.Ser176=)
n.290-21092C>T
c.408C>T (p.Ser136=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.66871157G>CCA475502587PCc.528C>G (p.Ser176=)
n.290-21092C>G
c.408C>G (p.Ser136=)
11g.66871157G=CA1979904844PCc.528C= (p.Ser176=)
n.290-21092C=
c.408C= (p.Ser136=)
11g.66871157G>TCA475502585PCc.528C>A (p.Ser176=)
n.290-21092C>A
c.408C>A (p.Ser136=)
11g.66871158G>ACA381502240PCc.527C>T (p.Ser176Phe)
n.290-21093C>T
c.407C>T (p.Ser136Phe)
dbSNP gnomAD v4
11g.66871158G>CCA381502239PCc.527C>G (p.Ser176Cys)
n.290-21093C>G
c.407C>G (p.Ser136Cys)
11g.66871158G=CA1979904850PCc.527C= (p.Ser176=)
n.290-21093C=
c.407C= (p.Ser136=)
11g.66871158G>TCA381502238PCc.527C>A (p.Ser176Tyr)
n.290-21093C>A
c.407C>A (p.Ser136Tyr)
gnomAD v4
11g.66871159A>CCA381502241PCc.526T>G (p.Ser176Ala)
n.290-21094T>G
c.406T>G (p.Ser136Ala)
11g.66871159A>GCA381502243PCc.526T>C (p.Ser176Pro)
n.290-21094T>C
c.406T>C (p.Ser136Pro)
11g.66871159A>TCA381502242PCc.526T>A (p.Ser176Thr)
n.290-21094T>A
c.406T>A (p.Ser136Thr)
11g.66871160C>ACA475502588PCc.525G>T (p.Thr175=)
n.290-21095G>T
c.405G>T (p.Thr135=)
11g.66871160C=CA1979904858PCc.525G= (p.Thr175=)
n.290-21095G=
c.405G= (p.Thr135=)
11g.66871160C>GCA224094989PCc.525G>C (p.Thr175=)
n.290-21095G>C
c.405G>C (p.Thr135=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.66871160C>TCA6132191PCc.525G>A (p.Thr175=)
n.290-21095G>A
c.405G>A (p.Thr135=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.66871161G>ACA224094999PCc.524C>T (p.Thr175Met)
n.290-21096C>T
c.404C>T (p.Thr135Met)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.66871161G>CCA381502244PCc.524C>G (p.Thr175Arg)
n.290-21096C>G
c.404C>G (p.Thr135Arg)
11g.66871161G=CA1979904867PCc.524C= (p.Thr175=)
n.290-21096C=
c.404C= (p.Thr135=)
11g.66871161G>TCA381502245PCc.524C>A (p.Thr175Lys)
n.290-21096C>A
c.404C>A (p.Thr135Lys)
11g.66871162T>ACA381502246PCc.523A>T (p.Thr175Ser)
n.290-21097A>T
c.403A>T (p.Thr135Ser)
11g.66871162T>CCA381502247PCc.523A>G (p.Thr175Ala)
n.290-21097A>G
c.403A>G (p.Thr135Ala)
11g.66871162T>GCA381502248PCc.523A>C (p.Thr175Pro)
n.290-21097A>C
c.403A>C (p.Thr135Pro)
11g.66871163G>ACA475502590PCc.522C>T (p.Ile174=)
n.290-21098C>T
c.402C>T (p.Ile134=)
11g.66871163G>CCA381502249PCc.522C>G (p.Ile174Met)
n.290-21098C>G
c.402C>G (p.Ile134Met)
11g.66871163G>TCA475502591PCc.522C>A (p.Ile174=)
n.290-21098C>A
c.402C>A (p.Ile134=)
11g.66871164A>CCA381502250PCc.521T>G (p.Ile174Ser)
n.290-21099T>G
c.401T>G (p.Ile134Ser)
11g.66871164A>GCA381502251PCc.521T>C (p.Ile174Thr)
n.290-21099T>C
c.401T>C (p.Ile134Thr)
11g.66871164A>TCA381502252PCc.521T>A (p.Ile174Asn)
n.290-21099T>A
c.401T>A (p.Ile134Asn)
11g.66871165T>ACA381502253PCc.520A>T (p.Ile174Phe)
n.290-21100A>T
c.400A>T (p.Ile134Phe)
11g.66871165T>CCA381502254PCc.520A>G (p.Ile174Val)
n.290-21100A>G
c.400A>G (p.Ile134Val)
11g.66871165T>GCA381502255PCc.520A>C (p.Ile174Leu)
n.290-21100A>C
c.400A>C (p.Ile134Leu)
gnomAD v4
11g.66871166G>ACA475502593PCc.519C>T (p.Pro173=)
n.290-21101C>T
c.399C>T (p.Pro133=)
11g.66871166G>CCA475502594PCc.519C>G (p.Pro173=)
n.290-21101C>G
c.399C>G (p.Pro133=)
ClinVar
11g.66871166G=CA1979904872PCc.519C= (p.Pro173=)
n.290-21101C=
c.399C= (p.Pro133=)
11g.66871166G>TCA475502596PCc.519C>A (p.Pro173=)
n.290-21101C>A
c.399C>A (p.Pro133=)
dbSNP gnomAD v2 gnomAD v4
11g.66871166_66871180dupCA2614544055PCc.505_519dup (p.Pro173_Ile174insGlyThrAspAlaPro)
n.290-21115_290-21101dup
c.385_399dup (p.Pro133_Ile134insGlyThrAspAlaPro)
gnomAD v4
11g.66871167G>ACA381502256PCc.518C>T (p.Pro173Leu)
n.290-21102C>T
c.398C>T (p.Pro133Leu)
gnomAD v4
11g.66871167G>CCA381502258PCc.518C>G (p.Pro173Arg)
n.290-21102C>G
c.398C>G (p.Pro133Arg)
11g.66871167G>TCA381502257PCc.518C>A (p.Pro173His)
n.290-21102C>A
c.398C>A (p.Pro133His)
11g.66871167_66871168insAGGCACCCAGGTCACACCCGGCTATGGTGAACGTCA2614544065PCc.517_518insACGTTCACCATAGCCGGGTGTGACCTGGGTGCCT (p.Pro173HisfsTer8)
n.290-21103_290-21102insACGTTCACCATAGCCGGGTGTGACCTGGGTGCCT
c.397_398insACGTTCACCATAGCCGGGTGTGACCTGGGTGCCT (p.Pro133HisfsTer8)
gnomAD v4
11g.66871168G>ACA381502259PCc.517C>T (p.Pro173Ser)
n.290-21103C>T
c.397C>T (p.Pro133Ser)
11g.66871168G>CCA381502260PCc.517C>G (p.Pro173Ala)
n.290-21103C>G
c.397C>G (p.Pro133Ala)
11g.66871168G>TCA381502261PCc.517C>A (p.Pro173Thr)
n.290-21103C>A
c.397C>A (p.Pro133Thr)
11g.66871169G>ACA475502597PCc.516C>T (p.Ala172=)
n.290-21104C>T
c.396C>T (p.Ala132=)
ClinVar dbSNP gnomAD v4
11g.66871169G>CCA475502599PCc.516C>G (p.Ala172=)
n.290-21104C>G
c.396C>G (p.Ala132=)
gnomAD v4
11g.66871169G=CA1979904878PCc.516C= (p.Ala172=)
n.290-21104C=
c.396C= (p.Ala132=)
11g.66871169G>TCA475502600PCc.516C>A (p.Ala172=)
n.290-21104C>A
c.396C>A (p.Ala132=)

Number of alleles fetched