Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.125491736C>ACA358144240FAT4c.14920C>A (p.Pro4974Thr)
c.9691C>A (p.Pro3231Thr)
c.9637C>A (p.Pro3213Thr)
c.14914C>A (p.Pro4972Thr)
c.14917C>A (p.Pro4973Thr)
4g.125491736C=CA1491680602FAT4c.14920C= (p.Pro4974=)
c.9691C= (p.Pro3231=)
c.9637C= (p.Pro3213=)
c.14914C= (p.Pro4972=)
c.14917C= (p.Pro4973=)
4g.125491736C>GCA358144242FAT4c.14920C>G (p.Pro4974Ala)
c.9691C>G (p.Pro3231Ala)
c.9637C>G (p.Pro3213Ala)
c.14914C>G (p.Pro4972Ala)
c.14917C>G (p.Pro4973Ala)
4g.125491736C>TCA3074644FAT4c.14920C>T (p.Pro4974Ser)
c.9691C>T (p.Pro3231Ser)
c.9637C>T (p.Pro3213Ser)
c.14914C>T (p.Pro4972Ser)
c.14917C>T (p.Pro4973Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125491737C>ACA358144246FAT4c.14921C>A (p.Pro4974His)
c.9692C>A (p.Pro3231His)
c.9638C>A (p.Pro3213His)
c.14915C>A (p.Pro4972His)
c.14918C>A (p.Pro4973His)
4g.125491737C>GCA358144249FAT4c.14921C>G (p.Pro4974Arg)
c.9692C>G (p.Pro3231Arg)
c.9638C>G (p.Pro3213Arg)
c.14915C>G (p.Pro4972Arg)
c.14918C>G (p.Pro4973Arg)
4g.125491737C>TCA358144252FAT4c.14921C>T (p.Pro4974Leu)
c.9692C>T (p.Pro3231Leu)
c.9638C>T (p.Pro3213Leu)
c.14915C>T (p.Pro4972Leu)
c.14918C>T (p.Pro4973Leu)
4g.125491738C>ACA441374007FAT4c.14922C>A (p.Pro4974=)
c.9693C>A (p.Pro3231=)
c.9639C>A (p.Pro3213=)
c.14916C>A (p.Pro4972=)
c.14919C>A (p.Pro4973=)
4g.125491738C>GCA441374010FAT4c.14922C>G (p.Pro4974=)
c.9693C>G (p.Pro3231=)
c.9639C>G (p.Pro3213=)
c.14916C>G (p.Pro4972=)
c.14919C>G (p.Pro4973=)
4g.125491738C>TCA441374012FAT4c.14922C>T (p.Pro4974=)
c.9693C>T (p.Pro3231=)
c.9639C>T (p.Pro3213=)
c.14916C>T (p.Pro4972=)
c.14919C>T (p.Pro4973=)
4g.125491739A>CCA358144258FAT4c.14923A>C (p.Lys4975Gln)
c.9694A>C (p.Lys3232Gln)
c.9640A>C (p.Lys3214Gln)
c.14917A>C (p.Lys4973Gln)
c.14920A>C (p.Lys4974Gln)
4g.125491739A>GCA358144263FAT4c.14923A>G (p.Lys4975Glu)
c.9694A>G (p.Lys3232Glu)
c.9640A>G (p.Lys3214Glu)
c.14917A>G (p.Lys4973Glu)
c.14920A>G (p.Lys4974Glu)
4g.125491739A>TCA358144255FAT4c.14923A>T (p.Lys4975Ter)
c.9694A>T (p.Lys3232Ter)
c.9640A>T (p.Lys3214Ter)
c.14917A>T (p.Lys4973Ter)
c.14920A>T (p.Lys4974Ter)
4g.125491740A=CA1491680610FAT4c.14924A= (p.Lys4975=)
c.9695A= (p.Lys3232=)
c.9641A= (p.Lys3214=)
c.14918A= (p.Lys4973=)
c.14921A= (p.Lys4974=)
4g.125491740A>CCA358144266FAT4c.14924A>C (p.Lys4975Thr)
c.9695A>C (p.Lys3232Thr)
c.9641A>C (p.Lys3214Thr)
c.14918A>C (p.Lys4973Thr)
c.14921A>C (p.Lys4974Thr)
dbSNP gnomAD v2 gnomAD v4
4g.125491740A>GCA358144268FAT4c.14924A>G (p.Lys4975Arg)
c.9695A>G (p.Lys3232Arg)
c.9641A>G (p.Lys3214Arg)
c.14918A>G (p.Lys4973Arg)
c.14921A>G (p.Lys4974Arg)
gnomAD v4
4g.125491740A>TCA358144269FAT4c.14924A>T (p.Lys4975Ile)
c.9695A>T (p.Lys3232Ile)
c.9641A>T (p.Lys3214Ile)
c.14918A>T (p.Lys4973Ile)
c.14921A>T (p.Lys4974Ile)
4g.125491741A>CCA358144272FAT4c.14925A>C (p.Lys4975Asn)
c.9696A>C (p.Lys3232Asn)
c.9642A>C (p.Lys3214Asn)
c.14919A>C (p.Lys4973Asn)
c.14922A>C (p.Lys4974Asn)
4g.125491741A>GCA441374020FAT4c.14925A>G (p.Lys4975=)
c.9696A>G (p.Lys3232=)
c.9642A>G (p.Lys3214=)
c.14919A>G (p.Lys4973=)
c.14922A>G (p.Lys4974=)
4g.125491741A>TCA358144275FAT4c.14925A>T (p.Lys4975Asn)
c.9696A>T (p.Lys3232Asn)
c.9642A>T (p.Lys3214Asn)
c.14919A>T (p.Lys4973Asn)
c.14922A>T (p.Lys4974Asn)
4g.125491742delCA2578191326FAT4c.14926del (p.Asp4976MetfsTer16)
c.9697del (p.Asp3233MetfsTer16)
c.9643del (p.Asp3215MetfsTer?)
c.14920del (p.Asp4974MetfsTer16)
c.14923del (p.Asp4975MetfsTer16)
4g.125491742G>ACA358144284FAT4c.14926G>A (p.Asp4976Asn)
c.9697G>A (p.Asp3233Asn)
c.9643G>A (p.Asp3215Asn)
c.14920G>A (p.Asp4974Asn)
c.14923G>A (p.Asp4975Asn)
dbSNP gnomAD v4
4g.125491742G>CCA358144279FAT4c.14926G>C (p.Asp4976His)
c.9697G>C (p.Asp3233His)
c.9643G>C (p.Asp3215His)
c.14920G>C (p.Asp4974His)
c.14923G>C (p.Asp4975His)
4g.125491742G=CA1491680612FAT4c.14926G= (p.Asp4976=)
c.9697G= (p.Asp3233=)
c.9643G= (p.Asp3215=)
c.14920G= (p.Asp4974=)
c.14923G= (p.Asp4975=)
4g.125491742G>TCA358144282FAT4c.14926G>T (p.Asp4976Tyr)
c.9697G>T (p.Asp3233Tyr)
c.9643G>T (p.Asp3215Tyr)
c.14920G>T (p.Asp4974Tyr)
c.14923G>T (p.Asp4975Tyr)
4g.125491743A=CA1491680614FAT4c.14927A= (p.Asp4976=)
c.9698A= (p.Asp3233=)
c.9644A= (p.Asp3215=)
c.14921A= (p.Asp4974=)
c.14924A= (p.Asp4975=)
4g.125491743A>CCA358144286FAT4c.14927A>C (p.Asp4976Ala)
c.9698A>C (p.Asp3233Ala)
c.9644A>C (p.Asp3215Ala)
c.14921A>C (p.Asp4974Ala)
c.14924A>C (p.Asp4975Ala)
4g.125491743A>GCA358144293FAT4c.14927A>G (p.Asp4976Gly)
c.9698A>G (p.Asp3233Gly)
c.9644A>G (p.Asp3215Gly)
c.14921A>G (p.Asp4974Gly)
c.14924A>G (p.Asp4975Gly)
dbSNP gnomAD v2 gnomAD v4
4g.125491743A>TCA358144294FAT4c.14927A>T (p.Asp4976Val)
c.9698A>T (p.Asp3233Val)
c.9644A>T (p.Asp3215Val)
c.14921A>T (p.Asp4974Val)
c.14924A>T (p.Asp4975Val)
4g.125491744T>ACA358144297FAT4c.14928T>A (p.Asp4976Glu)
c.9699T>A (p.Asp3233Glu)
c.9645T>A (p.Asp3215Glu)
c.14922T>A (p.Asp4974Glu)
c.14925T>A (p.Asp4975Glu)
4g.125491744T>CCA441374029FAT4c.14928T>C (p.Asp4976=)
c.9699T>C (p.Asp3233=)
c.9645T>C (p.Asp3215=)
c.14922T>C (p.Asp4974=)
c.14925T>C (p.Asp4975=)
dbSNP gnomAD v3 gnomAD v4
4g.125491744T>GCA358144299FAT4c.14928T>G (p.Asp4976Glu)
c.9699T>G (p.Asp3233Glu)
c.9645T>G (p.Asp3215Glu)
c.14922T>G (p.Asp4974Glu)
c.14925T>G (p.Asp4975Glu)
4g.125491744T=CA1491680618FAT4c.14928T= (p.Asp4976=)
c.9699T= (p.Asp3233=)
c.9645T= (p.Asp3215=)
c.14922T= (p.Asp4974=)
c.14925T= (p.Asp4975=)
4g.125491745G>ACA358144304FAT4c.14929G>A (p.Gly4977Arg)
c.9700G>A (p.Gly3234Arg)
c.9646G>A (p.Gly3216Arg)
c.14923G>A (p.Gly4975Arg)
c.14926G>A (p.Gly4976Arg)
4g.125491745G>CCA358144303FAT4c.14929G>C (p.Gly4977Arg)
c.9700G>C (p.Gly3234Arg)
c.9646G>C (p.Gly3216Arg)
c.14923G>C (p.Gly4975Arg)
c.14926G>C (p.Gly4976Arg)
4g.125491745G>TCA358144302FAT4c.14929G>T (p.Gly4977Trp)
c.9700G>T (p.Gly3234Trp)
c.9646G>T (p.Gly3216Trp)
c.14923G>T (p.Gly4975Trp)
c.14926G>T (p.Gly4976Trp)
4g.125491746G>ACA358144308FAT4c.14930G>A (p.Gly4977Glu)
c.9701G>A (p.Gly3234Glu)
c.9647G>A (p.Gly3216Glu)
c.14924G>A (p.Gly4975Glu)
c.14927G>A (p.Gly4976Glu)
gnomAD v4
4g.125491746G>CCA358144311FAT4c.14930G>C (p.Gly4977Ala)
c.9701G>C (p.Gly3234Ala)
c.9647G>C (p.Gly3216Ala)
c.14924G>C (p.Gly4975Ala)
c.14927G>C (p.Gly4976Ala)
4g.125491746G>TCA358144314FAT4c.14930G>T (p.Gly4977Val)
c.9701G>T (p.Gly3234Val)
c.9647G>T (p.Gly3216Val)
c.14924G>T (p.Gly4975Val)
c.14927G>T (p.Gly4976Val)
4g.125491747G>ACA3074645FAT4c.14931G>A (p.Gly4977=)
c.9702G>A (p.Gly3234=)
c.9648G>A (p.Gly3216=)
c.14925G>A (p.Gly4975=)
c.14928G>A (p.Gly4976=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125491747G>CCA441374039FAT4c.14931G>C (p.Gly4977=)
c.9702G>C (p.Gly3234=)
c.9648G>C (p.Gly3216=)
c.14925G>C (p.Gly4975=)
c.14928G>C (p.Gly4976=)
4g.125491747G=CA1491680622FAT4c.14931G= (p.Gly4977=)
c.9702G= (p.Gly3234=)
c.9648G= (p.Gly3216=)
c.14925G= (p.Gly4975=)
c.14928G= (p.Gly4976=)
4g.125491747G>TCA441374041FAT4c.14931G>T (p.Gly4977=)
c.9702G>T (p.Gly3234=)
c.9648G>T (p.Gly3216=)
c.14925G>T (p.Gly4975=)
c.14928G>T (p.Gly4976=)
4g.125491748G>ACA358144321FAT4c.14932G>A (p.Glu4978Lys)
c.9703G>A (p.Glu3235Lys)
c.9649G>A (p.Glu3217Lys)
c.14926G>A (p.Glu4976Lys)
c.14929G>A (p.Glu4977Lys)
gnomAD v4
4g.125491748G>CCA358144324FAT4c.14932G>C (p.Glu4978Gln)
c.9703G>C (p.Glu3235Gln)
c.9649G>C (p.Glu3217Gln)
c.14926G>C (p.Glu4976Gln)
c.14929G>C (p.Glu4977Gln)
4g.125491748G>TCA358144330FAT4c.14932G>T (p.Glu4978Ter)
c.9703G>T (p.Glu3235Ter)
c.9649G>T (p.Glu3217Ter)
c.14926G>T (p.Glu4976Ter)
c.14929G>T (p.Glu4977Ter)
COSMIC COSMIC COSMIC
4g.125491749A>CCA358144336FAT4c.14933A>C (p.Glu4978Ala)
c.9704A>C (p.Glu3235Ala)
c.9650A>C (p.Glu3217Ala)
c.14927A>C (p.Glu4976Ala)
c.14930A>C (p.Glu4977Ala)
4g.125491749A>GCA358144332FAT4c.14933A>G (p.Glu4978Gly)
c.9704A>G (p.Glu3235Gly)
c.9650A>G (p.Glu3217Gly)
c.14927A>G (p.Glu4976Gly)
c.14930A>G (p.Glu4977Gly)
4g.125491749A>TCA358144334FAT4c.14933A>T (p.Glu4978Val)
c.9704A>T (p.Glu3235Val)
c.9650A>T (p.Glu3217Val)
c.14927A>T (p.Glu4976Val)
c.14930A>T (p.Glu4977Val)
4g.125491750A>CCA358144339FAT4c.14934A>C (p.Glu4978Asp)
c.9705A>C (p.Glu3235Asp)
c.9651A>C (p.Glu3217Asp)
c.14928A>C (p.Glu4976Asp)
c.14931A>C (p.Glu4977Asp)

Number of alleles fetched