Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.136674644_136674718dupCA1130033669AGPAT2c.661+24_661+98dup (n.661+24_661+98dup)
c.565+24_565+98dup (n.565+24_565+98dup)
n.589+24_589+98dup
gnomAD v3 gnomAD v4
9g.136674716T>CCA1130033712AGPAT2c.661+19A>G (n.661+19A>G)
c.565+19A>G (n.565+19A>G)
n.589+19A>G
dbSNP gnomAD v3 gnomAD v4
9g.136674718_136674725delCA5342882AGPAT2c.661+12_661+19del (n.661+12_661+19del)
c.565+12_565+19del (n.565+12_565+19del)
n.589+12_589+19del
dbSNP ExAC gnomAD v3 gnomAD v4
9g.136674717G>ACA2692654199AGPAT2c.661+18C>T (n.661+18C>T)
c.565+18C>T (n.565+18C>T)
n.589+18C>T
gnomAD v4
9g.136674717G>TCA5342883AGPAT2c.661+18C>A (n.661+18C>A)
c.565+18C>A (n.565+18C>A)
n.589+18C>A
dbSNP ExAC gnomAD v2 gnomAD v4
9g.136674718C>ACA2692654200AGPAT2c.661+17G>T (n.661+17G>T)
c.565+17G>T (n.565+17G>T)
n.589+17G>T
gnomAD v4
9g.136674718C>GCA2692654201AGPAT2c.661+17G>C (n.661+17G>C)
c.565+17G>C (n.565+17G>C)
n.589+17G>C
gnomAD v4
9g.136674718C>TCA2692654202AGPAT2c.661+17G>A (n.661+17G>A)
c.565+17G>A (n.565+17G>A)
n.589+17G>A
gnomAD v4
9g.136674719A>GCA2692654203AGPAT2c.661+16T>C (n.661+16T>C)
c.565+16T>C (n.565+16T>C)
n.589+16T>C
gnomAD v4
9g.136674720C>ACA2692654204AGPAT2c.661+15G>T (n.661+15G>T)
c.565+15G>T (n.565+15G>T)
n.589+15G>T
gnomAD v4
9g.136674720C>GCA2692654205AGPAT2c.661+15G>C (n.661+15G>C)
c.565+15G>C (n.565+15G>C)
n.589+15G>C
gnomAD v4
9g.136674720C>TCA591183726AGPAT2c.661+15G>A (n.661+15G>A)
c.565+15G>A (n.565+15G>A)
n.589+15G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.136674721A>CCA1130033715AGPAT2c.661+14T>G (n.661+14T>G)
c.565+14T>G (n.565+14T>G)
n.589+14T>G
dbSNP gnomAD v3 gnomAD v4
9g.136674721A>GCA2692654206AGPAT2c.661+14T>C (n.661+14T>C)
c.565+14T>C (n.565+14T>C)
n.589+14T>C
gnomAD v4
9g.136674722C>ACA2692654208AGPAT2c.661+13G>T (n.661+13G>T)
c.565+13G>T (n.565+13G>T)
n.589+13G>T
gnomAD v4
9g.136674722C>TCA2692654207AGPAT2c.661+13G>A (n.661+13G>A)
c.565+13G>A (n.565+13G>A)
n.589+13G>A
gnomAD v4
9g.136674723A>GCA5342885AGPAT2c.661+12T>C (n.661+12T>C)
c.565+12T>C (n.565+12T>C)
n.589+12T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136674723A>TCA2692654209AGPAT2c.661+12T>A (n.661+12T>A)
c.565+12T>A (n.565+12T>A)
n.589+12T>A
gnomAD v4
9g.136674723_136674724delCA5342884AGPAT2c.661+11_661+12del (n.661+11_661+12del)
c.565+11_565+12del (n.565+11_565+12del)
n.589+11_589+12del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136674724T>CCA2692654210AGPAT2c.661+11A>G (n.661+11A>G)
c.565+11A>G (n.565+11A>G)
n.589+11A>G
gnomAD v4
9g.136674725G>ACA2692654211AGPAT2c.661+10C>T (n.661+10C>T)
c.565+10C>T (n.565+10C>T)
n.589+10C>T
gnomAD v4
9g.136674725G>TCA5342887AGPAT2c.661+10C>A (n.661+10C>A)
c.565+10C>A (n.565+10C>A)
n.589+10C>A
dbSNP ExAC gnomAD v2 gnomAD v4
9g.136674726_136674728delCA861081204AGPAT2c.661+8_661+10del (n.661+8_661+10del)
c.565+8_565+10del (n.565+8_565+10del)
n.589+8_589+10del
dbSNP gnomAD v4
9g.136674727_136674732dupCA5342886AGPAT2c.661+5_661+10dup (n.661+5_661+10dup)
c.565+5_565+10dup (n.565+5_565+10dup)
n.589+5_589+10dup
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136674726delCA2497275517AGPAT2c.661+9del (n.661+9del)
c.565+9del (n.565+9del)
n.589+9del
dbSNP
9g.136674726T>CCA2692654212AGPAT2c.661+9A>G (n.661+9A>G)
c.565+9A>G (n.565+9A>G)
n.589+9A>G
gnomAD v4
9g.136674726T>GCA2720854864AGPAT2c.661+9A>C (n.661+9A>C)
c.565+9A>C (n.565+9A>C)
n.589+9A>C
dbSNP
9g.136674727G>ACA5342889AGPAT2c.661+8C>T (n.661+8C>T)
c.565+8C>T (n.565+8C>T)
n.589+8C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136674727G>CCA5342888AGPAT2c.661+8C>G (n.661+8C>G)
c.565+8C>G (n.565+8C>G)
n.589+8C>G
dbSNP ExAC gnomAD v2 gnomAD v4
9g.136674727G>TCA591183728AGPAT2c.661+8C>A (n.661+8C>A)
c.565+8C>A (n.565+8C>A)
n.589+8C>A
dbSNP gnomAD v2 gnomAD v4
9g.136674731dupCA2692654213AGPAT2c.661+8dup (n.661+8dup)
c.565+8dup (n.565+8dup)
n.589+8dup
gnomAD v4
9g.136674731delCA2579519918AGPAT2c.661+8del (n.661+8del)
c.565+8del (n.565+8del)
n.589+8del
gnomAD v4
9g.136674728G>ACA861081213AGPAT2c.661+7C>T (n.661+7C>T)
c.565+7C>T (n.565+7C>T)
n.589+7C>T
dbSNP gnomAD v3 gnomAD v4
9g.136674728G>TCA2692654214AGPAT2c.661+7C>A (n.661+7C>A)
c.565+7C>A (n.565+7C>A)
n.589+7C>A
gnomAD v4
9g.136674729G>ACA2692654215AGPAT2c.661+6C>T (n.661+6C>T)
c.565+6C>T (n.565+6C>T)
n.589+6C>T
gnomAD v4
9g.136674729G>TCA2692654216AGPAT2c.661+6C>A (n.661+6C>A)
c.565+6C>A (n.565+6C>A)
n.589+6C>A
gnomAD v4
9g.136674730G>ACA5342890AGPAT2c.661+5C>T (n.661+5C>T)
c.565+5C>T (n.565+5C>T)
n.589+5C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136674730G>TCA2692654217AGPAT2c.661+5C>A (n.661+5C>A)
c.565+5C>A (n.565+5C>A)
n.589+5C>A
gnomAD v4
9g.136674731G>ACA2579519919AGPAT2c.661+4C>T (n.661+4C>T)
c.565+4C>T (n.565+4C>T)
n.589+4C>T
gnomAD v4
9g.136674731G>CCA591183729AGPAT2c.661+4C>G (n.661+4C>G)
c.565+4C>G (n.565+4C>G)
n.589+4C>G
dbSNP gnomAD v2
9g.136674731G>TCA201627602AGPAT2c.661+4C>A (n.661+4C>A)
c.565+4C>A (n.565+4C>A)
n.589+4C>A
dbSNP gnomAD v4
9g.136674732T>CCA2692654218AGPAT2c.661+3A>G (n.661+3A>G)
c.565+3A>G (n.565+3A>G)
n.589+3A>G
gnomAD v4
9g.136674733A>CCA16042194AGPAT2c.661+2T>G (n.661+2T>G)
c.565+2T>G (n.565+2T>G)
n.589+2T>G
ClinVar dbSNP
9g.136674733A>GCA375578107AGPAT2c.661+2T>C (n.661+2T>C)
c.565+2T>C (n.565+2T>C)
n.589+2T>C
gnomAD v4
9g.136674733A>TCA375578110AGPAT2c.661+2T>A (n.661+2T>A)
c.565+2T>A (n.565+2T>A)
n.589+2T>A
9g.136674733dupCA2720874574AGPAT2c.661+2dup (n.661+2dup)
c.565+2dup (n.565+2dup)
n.589+2dup
dbSNP
9g.136674734C>ACA375578113AGPAT2c.661+1G>T (n.661+1G>T)
c.565+1G>T (n.565+1G>T)
n.589+1G>T
gnomAD v4
9g.136674734C>GCA375578117AGPAT2c.661+1G>C (n.661+1G>C)
c.565+1G>C (n.565+1G>C)
n.589+1G>C
9g.136674734C>TCA375578119AGPAT2c.661+1G>A (n.661+1G>A)
c.565+1G>A (n.565+1G>A)
n.589+1G>A
gnomAD v4
9g.136674735C>ACA375578123AGPAT2c.661G>T (p.Gly221Ter)
c.565G>T (p.Gly189Ter)
n.589G>T
gnomAD v4
9g.136674735C>GCA375578127AGPAT2c.661G>C (p.Gly221Arg)
c.565G>C (p.Gly189Arg)
n.589G>C
9g.136674735C>TCA375578128AGPAT2c.661G>A (p.Gly221Arg)
c.565G>A (p.Gly189Arg)
n.589G>A
9g.136674736T>ACA467737893AGPAT2c.660A>T (p.Ser220=)
c.564A>T (p.Ser188=)
n.588A>T
gnomAD v4
9g.136674736T>CCA5342891AGPAT2c.660A>G (p.Ser220=)
c.564A>G (p.Ser188=)
n.588A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136674736T>GCA467737898AGPAT2c.660A>C (p.Ser220=)
c.564A>C (p.Ser188=)
n.588A>C
gnomAD v4
9g.136674741_136674745delCA861081233AGPAT2c.656_660del (p.Thr219ArgfsTer?)
c.560_564del (p.Thr187ArgfsTer?)
n.584_588del
ClinVar dbSNP gnomAD v3 gnomAD v4
9g.136674737delCA2692654219AGPAT2c.659del (p.Ser220Ter)
c.563del (p.Ser188Ter)
n.587del
gnomAD v4
9g.136674737G>ACA375578130AGPAT2c.659C>T (p.Ser220Leu)
c.563C>T (p.Ser188Leu)
n.587C>T
gnomAD v4
9g.136674737G>CCA375578134AGPAT2c.659C>G (p.Ser220Ter)
c.563C>G (p.Ser188Ter)
n.587C>G
gnomAD v4
9g.136674737G>TCA375578131AGPAT2c.659C>A (p.Ser220Ter)
c.563C>A (p.Ser188Ter)
n.587C>A
9g.136674738A>CCA375578139AGPAT2c.658T>G (p.Ser220Ala)
c.562T>G (p.Ser188Ala)
n.586T>G
9g.136674738A>GCA375578140AGPAT2c.658T>C (p.Ser220Pro)
c.562T>C (p.Ser188Pro)
n.586T>C
gnomAD v4
9g.136674738A>TCA375578144AGPAT2c.658T>A (p.Ser220Thr)
c.562T>A (p.Ser188Thr)
n.586T>A
gnomAD v4
9g.136674739A>CCA467737921AGPAT2c.657T>G (p.Thr219=)
c.561T>G (p.Thr187=)
n.585T>G
9g.136674739A>GCA467737922AGPAT2c.657T>C (p.Thr219=)
c.561T>C (p.Thr187=)
n.585T>C
gnomAD v4
9g.136674739A>TCA467737924AGPAT2c.657T>A (p.Thr219=)
c.561T>A (p.Thr187=)
n.585T>A
9g.136674740G>ACA375578150AGPAT2c.656C>T (p.Thr219Ile)
c.560C>T (p.Thr187Ile)
n.584C>T
dbSNP gnomAD v2 gnomAD v4
9g.136674740G>CCA375578155AGPAT2c.656C>G (p.Thr219Ser)
c.560C>G (p.Thr187Ser)
n.584C>G
9g.136674740G>TCA375578159AGPAT2c.656C>A (p.Thr219Asn)
c.560C>A (p.Thr187Asn)
n.584C>A
9g.136674741T>ACA375578163AGPAT2c.655A>T (p.Thr219Ser)
c.559A>T (p.Thr187Ser)
n.583A>T
9g.136674741T>CCA375578166AGPAT2c.655A>G (p.Thr219Ala)
c.559A>G (p.Thr187Ala)
n.583A>G
dbSNP gnomAD v3 gnomAD v4
9g.136674741T>GCA375578177AGPAT2c.655A>C (p.Thr219Pro)
c.559A>C (p.Thr187Pro)
n.583A>C
gnomAD v4
9g.136674742G>ACA467737941AGPAT2c.654C>T (p.Phe218=)
c.558C>T (p.Phe186=)
n.582C>T
gnomAD v4
9g.136674742G>CCA375578180AGPAT2c.654C>G (p.Phe218Leu)
c.558C>G (p.Phe186Leu)
n.582C>G
gnomAD v4
9g.136674742G>TCA375578184AGPAT2c.654C>A (p.Phe218Leu)
c.558C>A (p.Phe186Leu)
n.582C>A
9g.136674745_136674747delCA2579519920AGPAT2c.652_654del (p.Phe218del)
c.556_558del (p.Phe186del)
n.580_582del
gnomAD v4
9g.136674743A>CCA375578192AGPAT2c.653T>G (p.Phe218Cys)
c.557T>G (p.Phe186Cys)
n.581T>G
9g.136674743A>GCA375578196AGPAT2c.653T>C (p.Phe218Ser)
c.557T>C (p.Phe186Ser)
n.581T>C
gnomAD v4
9g.136674743A>TCA375578191AGPAT2c.653T>A (p.Phe218Tyr)
c.557T>A (p.Phe186Tyr)
n.581T>A
gnomAD v4
9g.136674744delCA2692654220AGPAT2c.653del (p.Phe218SerfsTer?)
c.557del (p.Phe186SerfsTer?)
n.581del
gnomAD v4
9g.136674744A>CCA375578219AGPAT2c.652T>G (p.Phe218Val)
c.556T>G (p.Phe186Val)
n.580T>G
9g.136674744A>GCA375578201AGPAT2c.652T>C (p.Phe218Leu)
c.556T>C (p.Phe186Leu)
n.580T>C
gnomAD v4
9g.136674744A>TCA375578214AGPAT2c.652T>A (p.Phe218Ile)
c.556T>A (p.Phe186Ile)
n.580T>A
gnomAD v4
9g.136674745G>ACA467737957AGPAT2c.651C>T (p.Phe217=)
c.555C>T (p.Phe185=)
n.579C>T
dbSNP gnomAD v2 gnomAD v4
9g.136674745G>CCA375578223AGPAT2c.651C>G (p.Phe217Leu)
c.555C>G (p.Phe185Leu)
n.579C>G
9g.136674745G>TCA375578227AGPAT2c.651C>A (p.Phe217Leu)
c.555C>A (p.Phe185Leu)
n.579C>A
9g.136674746A>CCA375578232AGPAT2c.650T>G (p.Phe217Cys)
c.554T>G (p.Phe185Cys)
n.578T>G
9g.136674746A>GCA375578238AGPAT2c.650T>C (p.Phe217Ser)
c.554T>C (p.Phe185Ser)
n.578T>C
gnomAD v4
9g.136674746A>TCA375578242AGPAT2c.650T>A (p.Phe217Tyr)
c.554T>A (p.Phe185Tyr)
n.578T>A
9g.136674746_136674748delCA591183730AGPAT2c.648_650del (p.Lys216_Phe217delinsAsn)
c.552_554del (p.Lys184_Phe185delinsAsn)
n.576_578del
gnomAD v2
9g.136674747A>CCA375578246AGPAT2c.649T>G (p.Phe217Val)
c.553T>G (p.Phe185Val)
n.577T>G
9g.136674747A>GCA375578249AGPAT2c.649T>C (p.Phe217Leu)
c.553T>C (p.Phe185Leu)
n.577T>C
gnomAD v4
9g.136674747A>TCA375578253AGPAT2c.649T>A (p.Phe217Ile)
c.553T>A (p.Phe185Ile)
n.577T>A
9g.136674748C>ACA375578261AGPAT2c.648G>T (p.Lys216Asn)
c.552G>T (p.Lys184Asn)
n.576G>T
gnomAD v4
9g.136674748C>GCA375578264AGPAT2c.648G>C (p.Lys216Asn)
c.552G>C (p.Lys184Asn)
n.576G>C
gnomAD v4
9g.136674748C>TCA467737982AGPAT2c.648G>A (p.Lys216=)
c.552G>A (p.Lys184=)
n.576G>A
dbSNP gnomAD v4
9g.136674754_136674756delCA5342892AGPAT2c.646_648del (p.Lys216del)
c.550_552del (p.Lys184del)
n.574_576del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136674749T>ACA5342893AGPAT2c.647A>T (p.Lys216Met)
c.551A>T (p.Lys184Met)
n.575A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136674749T>CCA375578268AGPAT2c.647A>G (p.Lys216Arg)
c.551A>G (p.Lys184Arg)
n.575A>G
gnomAD v4
9g.136674749T>GCA375578271AGPAT2c.647A>C (p.Lys216Thr)
c.551A>C (p.Lys184Thr)
n.575A>C
9g.136674749T=CA2580617654AGPAT2c.647A= (p.Lys216=)
c.551A= (p.Lys184=)
n.575A=
9g.136674749_136674750delinsAACA2580080924AGPAT2c.646_647delinsTT (p.Lys216Leu)
c.550_551delinsTT (p.Lys184Leu)
n.574_575delinsTT
ClinVar
9g.136674749_136674750delinsTTCA2580615409AGPAT2c.646_647delinsAA (p.Lys216=)
c.550_551delinsAA (p.Lys184=)
n.574_575delinsAA
9g.136674750T>ACA5342894AGPAT2c.646A>T (p.Lys216Ter)
c.550A>T (p.Lys184Ter)
n.574A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136674750T>CCA375578278AGPAT2c.646A>G (p.Lys216Glu)
c.550A>G (p.Lys184Glu)
n.574A>G
gnomAD v4
9g.136674750T>GCA375578281AGPAT2c.646A>C (p.Lys216Gln)
c.550A>C (p.Lys184Gln)
n.574A>C
9g.136674751C>ACA5342895AGPAT2c.645G>T (p.Lys215Asn)
c.549G>T (p.Lys183Asn)
n.573G>T
dbSNP ExAC gnomAD v2 gnomAD v4
9g.136674751C>GCA375578290AGPAT2c.645G>C (p.Lys215Asn)
c.549G>C (p.Lys183Asn)
n.573G>C
9g.136674751C>TCA5342896AGPAT2c.645G>A (p.Lys215=)
c.549G>A (p.Lys183=)
n.573G>A
dbSNP ExAC gnomAD v2 gnomAD v4
9g.136674752T>ACA375578296AGPAT2c.644A>T (p.Lys215Met)
c.548A>T (p.Lys183Met)
n.572A>T
9g.136674752T>CCA375578314AGPAT2c.644A>G (p.Lys215Arg)
c.548A>G (p.Lys183Arg)
n.572A>G
gnomAD v4
9g.136674752T>GCA375578320AGPAT2c.644A>C (p.Lys215Thr)
c.548A>C (p.Lys183Thr)
n.572A>C
9g.136674753T>ACA277949AGPAT2c.643A>T (p.Lys215Ter)
c.547A>T (p.Lys183Ter)
n.571A>T
ClinVar dbSNP
9g.136674753T>CCA375578333AGPAT2c.643A>G (p.Lys215Glu)
c.547A>G (p.Lys183Glu)
n.571A>G
gnomAD v4
9g.136674753T>GCA375578339AGPAT2c.643A>C (p.Lys215Gln)
c.547A>C (p.Lys183Gln)
n.571A>C
9g.136674754C>ACA375578340AGPAT2c.642G>T (p.Lys214Asn)
c.546G>T (p.Lys182Asn)
n.570G>T
gnomAD v4
9g.136674754C>GCA375578341AGPAT2c.642G>C (p.Lys214Asn)
c.546G>C (p.Lys182Asn)
n.570G>C
9g.136674754C>TCA201627646AGPAT2c.642G>A (p.Lys214=)
c.546G>A (p.Lys182=)
n.570G>A
dbSNP gnomAD v3 gnomAD v4
9g.136674755T>ACA375578347AGPAT2c.641A>T (p.Lys214Met)
c.545A>T (p.Lys182Met)
n.569A>T
COSMIC
9g.136674755T>CCA375578359AGPAT2c.641A>G (p.Lys214Arg)
c.545A>G (p.Lys182Arg)
n.569A>G
gnomAD v4
9g.136674755T>GCA375578372AGPAT2c.641A>C (p.Lys214Thr)
c.545A>C (p.Lys182Thr)
n.569A>C
9g.136674756T>ACA375578373AGPAT2c.640A>T (p.Lys214Ter)
c.544A>T (p.Lys182Ter)
n.568A>T
9g.136674756T>CCA5342897AGPAT2c.640A>G (p.Lys214Glu)
c.544A>G (p.Lys182Glu)
n.568A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136674756T>GCA375578377AGPAT2c.640A>C (p.Lys214Gln)
c.544A>C (p.Lys182Gln)
n.568A>C
9g.136674757G>ACA467738055AGPAT2c.639C>T (p.Thr213=)
c.543C>T (p.Thr181=)
n.567C>T
gnomAD v4
9g.136674757G>CCA467738056AGPAT2c.639C>G (p.Thr213=)
c.543C>G (p.Thr181=)
n.567C>G
9g.136674757G>TCA467738058AGPAT2c.639C>A (p.Thr213=)
c.543C>A (p.Thr181=)
n.567C>A
gnomAD v4
9g.136674758delCA2692654221AGPAT2c.639del (p.Lys214ArgfsTer?)
c.543del (p.Lys182ArgfsTer?)
n.567del
gnomAD v4
9g.136674758G>ACA5342898AGPAT2c.638C>T (p.Thr213Ile)
c.542C>T (p.Thr181Ile)
n.566C>T
dbSNP ExAC gnomAD v2 gnomAD v4
9g.136674758G>CCA375578386AGPAT2c.638C>G (p.Thr213Ser)
c.542C>G (p.Thr181Ser)
n.566C>G
dbSNP gnomAD v4
9g.136674758G>TCA375578392AGPAT2c.638C>A (p.Thr213Asn)
c.542C>A (p.Thr181Asn)
n.566C>A
gnomAD v4
9g.136674759T>ACA375578404AGPAT2c.637A>T (p.Thr213Ser)
c.541A>T (p.Thr181Ser)
n.565A>T
9g.136674759T>CCA375578407AGPAT2c.637A>G (p.Thr213Ala)
c.541A>G (p.Thr181Ala)
n.565A>G
gnomAD v4
9g.136674759T>GCA375578421AGPAT2c.637A>C (p.Thr213Pro)
c.541A>C (p.Thr181Pro)
n.565A>C
9g.136674760G>ACA467738083AGPAT2c.636C>T (p.Asn212=)
c.540C>T (p.Asn180=)
n.564C>T
gnomAD v4
9g.136674760G>CCA375578426AGPAT2c.636C>G (p.Asn212Lys)
c.540C>G (p.Asn180Lys)
n.564C>G
9g.136674760G>TCA375578444AGPAT2c.636C>A (p.Asn212Lys)
c.540C>A (p.Asn180Lys)
n.564C>A
9g.136674761T>ACA375578457AGPAT2c.635A>T (p.Asn212Ile)
c.539A>T (p.Asn180Ile)
n.563A>T
gnomAD v4
9g.136674761T>CCA375578460AGPAT2c.635A>G (p.Asn212Ser)
c.539A>G (p.Asn180Ser)
n.563A>G
gnomAD v4
9g.136674761T>GCA5342899AGPAT2c.635A>C (p.Asn212Thr)
c.539A>C (p.Asn180Thr)
n.563A>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136674762T>ACA375578467AGPAT2c.634A>T (p.Asn212Tyr)
c.538A>T (p.Asn180Tyr)
n.562A>T
9g.136674762T>CCA375578480AGPAT2c.634A>G (p.Asn212Asp)
c.538A>G (p.Asn180Asp)
n.562A>G
gnomAD v4
9g.136674762T>GCA375578482AGPAT2c.634A>C (p.Asn212His)
c.538A>C (p.Asn180His)
n.562A>C
9g.136674763G>ACA5342900AGPAT2c.633C>T (p.Tyr211=)
c.537C>T (p.Tyr179=)
n.561C>T
dbSNP ExAC gnomAD v2 gnomAD v4
9g.136674763G>CCA375578488AGPAT2c.633C>G (p.Tyr211Ter)
c.537C>G (p.Tyr179Ter)
n.561C>G
9g.136674763G>TCA375578501AGPAT2c.633C>A (p.Tyr211Ter)
c.537C>A (p.Tyr179Ter)
n.561C>A
9g.136674764T>ACA375578503AGPAT2c.632A>T (p.Tyr211Phe)
c.536A>T (p.Tyr179Phe)
n.560A>T
9g.136674764T>CCA375578504AGPAT2c.632A>G (p.Tyr211Cys)
c.536A>G (p.Tyr179Cys)
n.560A>G
gnomAD v4
9g.136674764T>GCA375578506AGPAT2c.632A>C (p.Tyr211Ser)
c.536A>C (p.Tyr179Ser)
n.560A>C
9g.136674765A>CCA375578511AGPAT2c.631T>G (p.Tyr211Asp)
c.535T>G (p.Tyr179Asp)
n.559T>G
9g.136674765A>GCA375578517AGPAT2c.631T>C (p.Tyr211His)
c.535T>C (p.Tyr179His)
n.559T>C
gnomAD v4
9g.136674765A>TCA375578533AGPAT2c.631T>A (p.Tyr211Asn)
c.535T>A (p.Tyr179Asn)
n.559T>A
gnomAD v4
9g.136674767_136674769delCA2692654222AGPAT2c.629_631del (p.Phe210del)
c.533_535del (p.Phe178del)
n.557_559del
gnomAD v4
9g.136674766G>ACA467738142AGPAT2c.630C>T (p.Phe210=)
c.534C>T (p.Phe178=)
n.558C>T
gnomAD v4
9g.136674766G>CCA375578544AGPAT2c.630C>G (p.Phe210Leu)
c.534C>G (p.Phe178Leu)
n.558C>G
9g.136674766G>TCA375578539AGPAT2c.630C>A (p.Phe210Leu)
c.534C>A (p.Phe178Leu)
n.558C>A
9g.136674767A>CCA375578553AGPAT2c.629T>G (p.Phe210Cys)
c.533T>G (p.Phe178Cys)
n.557T>G
9g.136674767A>GCA5342902AGPAT2c.629T>C (p.Phe210Ser)
c.533T>C (p.Phe178Ser)
n.557T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136674767A>TCA375578557AGPAT2c.629T>A (p.Phe210Tyr)
c.533T>A (p.Phe178Tyr)
n.557T>A
9g.136674768dupCA1130033743AGPAT2c.629dup (p.Tyr211LeufsTer?)
c.533dup (p.Tyr179LeufsTer?)
n.557dup
dbSNP gnomAD v3 gnomAD v4
9g.136674768delCA2692654223AGPAT2c.629del (p.Phe210SerfsTer?)
c.533del (p.Phe178SerfsTer?)
n.557del
gnomAD v4
9g.136674768A>CCA375578558AGPAT2c.628T>G (p.Phe210Val)
c.532T>G (p.Phe178Val)
n.556T>G
9g.136674768A>GCA375578562AGPAT2c.628T>C (p.Phe210Leu)
c.532T>C (p.Phe178Leu)
n.556T>C
gnomAD v4
9g.136674768A>TCA375578563AGPAT2c.628T>A (p.Phe210Ile)
c.532T>A (p.Phe178Ile)
n.556T>A
gnomAD v4
9g.136674773_136674775delCA5342901AGPAT2c.626_628del (p.Ser209del)
c.530_532del (p.Ser177del)
n.554_556del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136674769G>ACA467738176AGPAT2c.627C>T (p.Ser209=)
c.531C>T (p.Ser177=)
n.555C>T
gnomAD v4
9g.136674769G>CCA467738171AGPAT2c.627C>G (p.Ser209=)
c.531C>G (p.Ser177=)
n.555C>G
gnomAD v4
9g.136674769G>TCA467738173AGPAT2c.627C>A (p.Ser209=)
c.531C>A (p.Ser177=)
n.555C>A
gnomAD v4
9g.136674770G>ACA375578575AGPAT2c.626C>T (p.Ser209Phe)
c.530C>T (p.Ser177Phe)
n.554C>T
gnomAD v4
9g.136674770G>CCA375578565AGPAT2c.626C>G (p.Ser209Cys)
c.530C>G (p.Ser177Cys)
n.554C>G
9g.136674770G>TCA5342903AGPAT2c.626C>A (p.Ser209Tyr)
c.530C>A (p.Ser177Tyr)
n.554C>A
dbSNP ExAC gnomAD v2 gnomAD v4
9g.136674772_136674776delCA913189691AGPAT2c.622_626del (p.Ser208LeufsTer?)
c.526_530del (p.Ser176LeufsTer?)
n.550_554del
ClinVar dbSNP
9g.136674771A>CCA375578591AGPAT2c.625T>G (p.Ser209Ala)
c.529T>G (p.Ser177Ala)
n.553T>G
9g.136674771A>GCA375578593AGPAT2c.625T>C (p.Ser209Pro)
c.529T>C (p.Ser177Pro)
n.553T>C
gnomAD v4
9g.136674771A>TCA375578596AGPAT2c.625T>A (p.Ser209Thr)
c.529T>A (p.Ser177Thr)
n.553T>A
9g.136674772G>ACA467738195AGPAT2c.624C>T (p.Ser208=)
c.528C>T (p.Ser176=)
n.552C>T
dbSNP gnomAD v2 gnomAD v4
9g.136674772G>CCA467738199AGPAT2c.624C>G (p.Ser208=)
c.528C>G (p.Ser176=)
n.552C>G
gnomAD v4
9g.136674772G>TCA467738197AGPAT2c.624C>A (p.Ser208=)
c.528C>A (p.Ser176=)
n.552C>A
gnomAD v4
9g.136674773G>ACA201627675AGPAT2c.623C>T (p.Ser208Phe)
c.527C>T (p.Ser176Phe)
n.551C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.136674773G>CCA375578605AGPAT2c.623C>G (p.Ser208Cys)
c.527C>G (p.Ser176Cys)
n.551C>G
9g.136674773G>TCA375578606AGPAT2c.623C>A (p.Ser208Tyr)
c.527C>A (p.Ser176Tyr)
n.551C>A
9g.136674774A>CCA375578610AGPAT2c.622T>G (p.Ser208Ala)
c.526T>G (p.Ser176Ala)
n.550T>G
9g.136674774A>GCA5342904AGPAT2c.622T>C (p.Ser208Pro)
c.526T>C (p.Ser176Pro)
n.550T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136674774A>TCA375578608AGPAT2c.622T>A (p.Ser208Thr)
c.526T>A (p.Ser176Thr)
n.550T>A
gnomAD v4
9g.136674775G>ACA467738219AGPAT2c.621C>T (p.Phe207=)
c.525C>T (p.Phe175=)
n.549C>T
ClinVar gnomAD v4
9g.136674775G>CCA375578613AGPAT2c.621C>G (p.Phe207Leu)
c.525C>G (p.Phe175Leu)
n.549C>G
gnomAD v4
9g.136674775G>TCA375578614AGPAT2c.621C>A (p.Phe207Leu)
c.525C>A (p.Phe175Leu)
n.549C>A
9g.136674779_136674782delCA591183731AGPAT2c.618_621del (p.Phe207ProfsTer?)
c.522_525del (p.Phe175ProfsTer?)
n.546_549del
gnomAD v2 gnomAD v4
9g.136674776A>CCA375578617AGPAT2c.620T>G (p.Phe207Cys)
c.524T>G (p.Phe175Cys)
n.548T>G
9g.136674776A>GCA375578618AGPAT2c.620T>C (p.Phe207Ser)
c.524T>C (p.Phe175Ser)
n.548T>C
gnomAD v4
9g.136674776A>TCA375578622AGPAT2c.620T>A (p.Phe207Tyr)
c.524T>A (p.Phe175Tyr)
n.548T>A
9g.136674777delCA2692654224AGPAT2c.620del (p.Phe207SerfsTer?)
c.524del (p.Phe175SerfsTer?)
n.548del
gnomAD v4
9g.136674777A>CCA375578630AGPAT2c.619T>G (p.Phe207Val)
c.523T>G (p.Phe175Val)
n.547T>G
9g.136674777A>GCA375578628AGPAT2c.619T>C (p.Phe207Leu)
c.523T>C (p.Phe175Leu)
n.547T>C
gnomAD v4
9g.136674777A>TCA375578629AGPAT2c.619T>A (p.Phe207Ile)
c.523T>A (p.Phe175Ile)
n.547T>A
gnomAD v4
9g.136674778G>ACA5342905AGPAT2c.618C>T (p.Ser206=)
c.522C>T (p.Ser174=)
n.546C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136674778G>CCA467738236AGPAT2c.618C>G (p.Ser206=)
c.522C>G (p.Ser174=)
n.546C>G
9g.136674778G>TCA467738238AGPAT2c.618C>A (p.Ser206=)
c.522C>A (p.Ser174=)
n.546C>A
9g.136674779G>ACA5342906AGPAT2c.617C>T (p.Ser206Phe)
c.521C>T (p.Ser174Phe)
n.545C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.136674779G>CCA375578635AGPAT2c.617C>G (p.Ser206Cys)
c.521C>G (p.Ser174Cys)
n.545C>G
9g.136674779G>TCA375578636AGPAT2c.617C>A (p.Ser206Tyr)
c.521C>A (p.Ser174Tyr)
n.545C>A
9g.136674780A>CCA375578637AGPAT2c.616T>G (p.Ser206Ala)
c.520T>G (p.Ser174Ala)
n.544T>G
9g.136674780A>GCA375578646AGPAT2c.616T>C (p.Ser206Pro)
c.520T>C (p.Ser174Pro)
n.544T>C
gnomAD v4
9g.136674780A>TCA375578650AGPAT2c.616T>A (p.Ser206Thr)
c.520T>A (p.Ser174Thr)
n.544T>A
9g.136674781A>CCA467738254AGPAT2c.615T>G (p.Ser205=)
c.519T>G (p.Ser173=)
n.543T>G
9g.136674781A>GCA467738256AGPAT2c.615T>C (p.Ser205=)
c.519T>C (p.Ser173=)
n.543T>C
gnomAD v4
9g.136674781A>TCA467738259AGPAT2c.615T>A (p.Ser205=)
c.519T>A (p.Ser173=)
n.543T>A
gnomAD v4
9g.136674782G>ACA375578653AGPAT2c.614C>T (p.Ser205Phe)
c.518C>T (p.Ser173Phe)
n.542C>T
gnomAD v4
9g.136674782G>CCA375578654AGPAT2c.614C>G (p.Ser205Cys)
c.518C>G (p.Ser173Cys)
n.542C>G
9g.136674782G>TCA375578655AGPAT2c.614C>A (p.Ser205Tyr)
c.518C>A (p.Ser173Tyr)
n.542C>A
9g.136674783A>CCA375578656AGPAT2c.613T>G (p.Ser205Ala)
c.517T>G (p.Ser173Ala)
n.541T>G
9g.136674783A>GCA375578657AGPAT2c.613T>C (p.Ser205Pro)
c.517T>C (p.Ser173Pro)
n.541T>C
gnomAD v4
9g.136674783A>TCA375578658AGPAT2c.613T>A (p.Ser205Thr)
c.517T>A (p.Ser173Thr)
n.541T>A
9g.136674784G>ACA5342907AGPAT2c.612C>T (p.Tyr204=)
c.516C>T (p.Tyr172=)
n.540C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136674784G>CCA375578668AGPAT2c.612C>G (p.Tyr204Ter)
c.516C>G (p.Tyr172Ter)
n.540C>G
9g.136674784G>TCA375578667AGPAT2c.612C>A (p.Tyr204Ter)
c.516C>A (p.Tyr172Ter)
n.540C>A
gnomAD v4
9g.136674785T>ACA375578669AGPAT2c.611A>T (p.Tyr204Phe)
c.515A>T (p.Tyr172Phe)
n.539A>T
9g.136674785T>CCA5342908AGPAT2c.611A>G (p.Tyr204Cys)
c.515A>G (p.Tyr172Cys)
n.539A>G
dbSNP ExAC gnomAD v2 gnomAD v4
9g.136674785T>GCA375578678AGPAT2c.611A>C (p.Tyr204Ser)
c.515A>C (p.Tyr172Ser)
n.539A>C
9g.136674786A>CCA375578679AGPAT2c.610T>G (p.Tyr204Asp)
c.514T>G (p.Tyr172Asp)
n.538T>G
9g.136674786A>GCA375578680AGPAT2c.610T>C (p.Tyr204His)
c.514T>C (p.Tyr172His)
n.538T>C
gnomAD v4
9g.136674786A>TCA375578684AGPAT2c.610T>A (p.Tyr204Asn)
c.514T>A (p.Tyr172Asn)
n.538T>A
9g.136674787C>ACA467738276AGPAT2c.609G>T (p.Val203=)
c.513G>T (p.Val171=)
n.537G>T
gnomAD v4
9g.136674787C>GCA467738277AGPAT2c.609G>C (p.Val203=)
c.513G>C (p.Val171=)
n.537G>C
9g.136674787C>TCA467738279AGPAT2c.609G>A (p.Val203=)
c.513G>A (p.Val171=)
n.537G>A
gnomAD v4
9g.136674788A>CCA375578688AGPAT2c.608T>G (p.Val203Gly)
c.512T>G (p.Val171Gly)
n.536T>G
9g.136674788A>GCA375578689AGPAT2c.608T>C (p.Val203Ala)
c.512T>C (p.Val171Ala)
n.536T>C
dbSNP gnomAD v4
9g.136674788A>TCA375578690AGPAT2c.608T>A (p.Val203Glu)
c.512T>A (p.Val171Glu)
n.536T>A
9g.136674789C>ACA375578697AGPAT2c.607G>T (p.Val203Leu)
c.511G>T (p.Val171Leu)
n.535G>T
gnomAD v4
9g.136674789C>GCA375578701AGPAT2c.607G>C (p.Val203Leu)
c.511G>C (p.Val171Leu)
n.535G>C
9g.136674789C>TCA375578711AGPAT2c.607G>A (p.Val203Met)
c.511G>A (p.Val171Met)
n.535G>A
gnomAD v4
9g.136674790delCA645547675AGPAT2c.607del (p.Val203CysfsTer?)
c.511del (p.Val171CysfsTer?)
n.535del
COSMIC
9g.136674790C>ACA467738295AGPAT2c.606G>T (p.Val202=)
c.510G>T (p.Val170=)
n.534G>T
gnomAD v4
9g.136674790C>GCA467738296AGPAT2c.606G>C (p.Val202=)
c.510G>C (p.Val170=)
n.534G>C
9g.136674790C>TCA467738306AGPAT2c.606G>A (p.Val202=)
c.510G>A (p.Val170=)
n.534G>A
gnomAD v4
9g.136674791A>CCA375578751AGPAT2c.605T>G (p.Val202Gly)
c.509T>G (p.Val170Gly)
n.533T>G
9g.136674791A>GCA375578740AGPAT2c.605T>C (p.Val202Ala)
c.509T>C (p.Val170Ala)
n.533T>C
9g.136674791A>TCA375578748AGPAT2c.605T>A (p.Val202Glu)
c.509T>A (p.Val170Glu)
n.533T>A
9g.136674792delCA2692654225AGPAT2c.604del (p.Val202TrpfsTer?)
c.508del (p.Val170TrpfsTer?)
n.532del
gnomAD v4
9g.136674792C>ACA375578753AGPAT2c.604G>T (p.Val202Leu)
c.508G>T (p.Val170Leu)
n.532G>T
dbSNP gnomAD v4
9g.136674792C>GCA375578757AGPAT2c.604G>C (p.Val202Leu)
c.508G>C (p.Val170Leu)
n.532G>C
gnomAD v4
9g.136674792C>TCA5342909AGPAT2c.604G>A (p.Val202Met)
c.508G>A (p.Val170Met)
n.532G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136674793G>ACA467738315AGPAT2c.603C>T (p.Pro201=)
c.507C>T (p.Pro169=)
n.531C>T
dbSNP gnomAD v2 gnomAD v4
9g.136674793G>CCA467738317AGPAT2c.603C>G (p.Pro201=)
c.507C>G (p.Pro169=)
n.531C>G
dbSNP gnomAD v4
9g.136674793G>TCA5342910AGPAT2c.603C>A (p.Pro201=)
c.507C>A (p.Pro169=)
n.531C>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136674796delCA2497275518AGPAT2c.603del (p.Val202TrpfsTer?)
c.507del (p.Val170TrpfsTer?)
n.531del
dbSNP gnomAD v4
9g.136674794G>ACA375578792AGPAT2c.602C>T (p.Pro201Leu)
c.506C>T (p.Pro169Leu)
n.530C>T
gnomAD v4
9g.136674794G>CCA375578795AGPAT2c.602C>G (p.Pro201Arg)
c.506C>G (p.Pro169Arg)
n.530C>G
9g.136674794G>TCA375578799AGPAT2c.602C>A (p.Pro201His)
c.506C>A (p.Pro169His)
n.530C>A
gnomAD v4
9g.136674795G>ACA375578810AGPAT2c.601C>T (p.Pro201Ser)
c.505C>T (p.Pro169Ser)
n.529C>T
dbSNP gnomAD v4
9g.136674795G>CCA375578832AGPAT2c.601C>G (p.Pro201Ala)
c.505C>G (p.Pro169Ala)
n.529C>G
9g.136674795G>TCA375578841AGPAT2c.601C>A (p.Pro201Thr)
c.505C>A (p.Pro169Thr)
n.529C>A
gnomAD v4 COSMIC
9g.136674796G>ACA5342911AGPAT2c.600C>T (p.Val200=)
c.504C>T (p.Val168=)
n.528C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136674796G>CCA467738332AGPAT2c.600C>G (p.Val200=)
c.504C>G (p.Val168=)
n.528C>G
9g.136674796G>TCA467738328AGPAT2c.600C>A (p.Val200=)
c.504C>A (p.Val168=)
n.528C>A
gnomAD v4
9g.136674797A>CCA375578882AGPAT2c.599T>G (p.Val200Gly)
c.503T>G (p.Val168Gly)
n.527T>G
9g.136674797A>GCA375578857AGPAT2c.599T>C (p.Val200Ala)
c.503T>C (p.Val168Ala)
n.527T>C
gnomAD v4
9g.136674797A>TCA375578856AGPAT2c.599T>A (p.Val200Asp)
c.503T>A (p.Val168Asp)
n.527T>A
9g.136674798C>ACA201627695AGPAT2c.598G>T (p.Val200Phe)
c.502G>T (p.Val168Phe)
n.526G>T
dbSNP gnomAD v4
9g.136674798C>GCA5342912AGPAT2c.598G>C (p.Val200Leu)
c.502G>C (p.Val168Leu)
n.526G>C
dbSNP ExAC gnomAD v2 gnomAD v4
9g.136674798C>TCA375578889AGPAT2c.598G>A (p.Val200Ile)
c.502G>A (p.Val168Ile)
n.526G>A
dbSNP gnomAD v2 gnomAD v4
9g.136674799delCA2692654226AGPAT2c.597del (p.Ile199MetfsTer?)
c.501del (p.Ile167MetfsTer?)
n.525del
gnomAD v4
9g.136674799G>ACA5342913AGPAT2c.597C>T (p.Ile199=)
c.501C>T (p.Ile167=)
n.525C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136674799G>CCA375578891AGPAT2c.597C>G (p.Ile199Met)
c.501C>G (p.Ile167Met)
n.525C>G
9g.136674799G>TCA467738339AGPAT2c.597C>A (p.Ile199=)
c.501C>A (p.Ile167=)
n.525C>A
gnomAD v4
9g.136674800A>CCA375578900AGPAT2c.596T>G (p.Ile199Ser)
c.500T>G (p.Ile167Ser)
n.524T>G
9g.136674800A>GCA375578906AGPAT2c.596T>C (p.Ile199Thr)
c.500T>C (p.Ile167Thr)
n.524T>C
dbSNP gnomAD v4
9g.136674800A>TCA375578921AGPAT2c.596T>A (p.Ile199Asn)
c.500T>A (p.Ile167Asn)
n.524T>A
9g.136674801T>ACA375578928AGPAT2c.595A>T (p.Ile199Phe)
c.499A>T (p.Ile167Phe)
n.523A>T
9g.136674801T>CCA375578934AGPAT2c.595A>G (p.Ile199Val)
c.499A>G (p.Ile167Val)
n.523A>G
gnomAD v4
9g.136674801T>GCA375578937AGPAT2c.595A>C (p.Ile199Leu)
c.499A>C (p.Ile167Leu)
n.523A>C
9g.136674802G>ACA5342914AGPAT2c.594C>T (p.Pro198=)
c.498C>T (p.Pro166=)
n.522C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136674802G>CCA467738543AGPAT2c.594C>G (p.Pro198=)
c.498C>G (p.Pro166=)
n.522C>G
9g.136674802G>TCA467738541AGPAT2c.594C>A (p.Pro198=)
c.498C>A (p.Pro166=)
n.522C>A
gnomAD v4
9g.136674804delCA2692654227AGPAT2c.594del (p.Ile199SerfsTer?)
c.498del (p.Ile167SerfsTer?)
n.522del
gnomAD v4
9g.136674803G>ACA375578965AGPAT2c.593C>T (p.Pro198Leu)
c.497C>T (p.Pro166Leu)
n.521C>T
gnomAD v4
9g.136674803G>CCA375578968AGPAT2c.593C>G (p.Pro198Arg)
c.497C>G (p.Pro166Arg)
n.521C>G
9g.136674803G>TCA375578970AGPAT2c.593C>A (p.Pro198His)
c.497C>A (p.Pro166His)
n.521C>A
gnomAD v4
9g.136674804G>ACA375578979AGPAT2c.592C>T (p.Pro198Ser)
c.496C>T (p.Pro166Ser)
n.520C>T
dbSNP gnomAD v4
9g.136674804G>CCA375578973AGPAT2c.592C>G (p.Pro198Ala)
c.496C>G (p.Pro166Ala)
n.520C>G
9g.136674804G>TCA375578975AGPAT2c.592C>A (p.Pro198Thr)
c.496C>A (p.Pro166Thr)
n.520C>A
gnomAD v4
9g.136674805C>ACA467738550AGPAT2c.591G>T (p.Val197=)
c.495G>T (p.Val165=)
n.519G>T
gnomAD v4
9g.136674805C>GCA467738554AGPAT2c.591G>C (p.Val197=)
c.495G>C (p.Val165=)
n.519G>C
gnomAD v4
9g.136674805C>TCA467738552AGPAT2c.591G>A (p.Val197=)
c.495G>A (p.Val165=)
n.519G>A
dbSNP gnomAD v4
9g.136674806A>CCA375578980AGPAT2c.590T>G (p.Val197Gly)
c.494T>G (p.Val165Gly)
n.518T>G
9g.136674806A>GCA375578983AGPAT2c.590T>C (p.Val197Ala)
c.494T>C (p.Val165Ala)
n.518T>C
gnomAD v4
9g.136674806A>TCA375578986AGPAT2c.590T>A (p.Val197Glu)
c.494T>A (p.Val165Glu)
n.518T>A
9g.136674807C>ACA375578988AGPAT2c.589G>T (p.Val197Leu)
c.493G>T (p.Val165Leu)
n.517G>T
gnomAD v4
9g.136674807C>GCA375578989AGPAT2c.589G>C (p.Val197Leu)
c.493G>C (p.Val165Leu)
n.517G>C
gnomAD v4
9g.136674807C>TCA375578990AGPAT2c.589G>A (p.Val197Met)
c.493G>A (p.Val165Met)
n.517G>A
gnomAD v4
9g.136674808C>ACA375578992AGPAT2c.589-1G>T (n.589-1G>T)
c.493-1G>T (n.493-1G>T)
n.517-1G>T
gnomAD v4
9g.136674808C>GCA375578994AGPAT2c.589-1G>C (n.589-1G>C)
c.493-1G>C (n.493-1G>C)
n.517-1G>C
9g.136674808C>TCA375578997AGPAT2c.589-1G>A (n.589-1G>A)
c.493-1G>A (n.493-1G>A)
n.517-1G>A
dbSNP gnomAD v4
9g.136674809delCA2692654228AGPAT2c.589-2del (n.589-2del)
c.493-2del (n.493-2del)
n.517-2del
gnomAD v4
9g.136674809T>ACA375578998AGPAT2c.589-2A>T (n.589-2A>T)
c.493-2A>T (n.493-2A>T)
n.517-2A>T
9g.136674809T>CCA277944AGPAT2c.589-2A>G (n.589-2A>G)
c.493-2A>G (n.493-2A>G)
n.517-2A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.136674809T>GCA375579003AGPAT2c.589-2A>C (n.589-2A>C)
c.493-2A>C (n.493-2A>C)
n.517-2A>C
gnomAD v4
9g.136674810G>ACA2692654230AGPAT2c.589-3C>T (n.589-3C>T)
c.493-3C>T (n.493-3C>T)
n.517-3C>T
gnomAD v4
9g.136674810G>CCA2692654231AGPAT2c.589-3C>G (n.589-3C>G)
c.493-3C>G (n.493-3C>G)
n.517-3C>G
gnomAD v4
9g.136674810G>TCA645547676AGPAT2c.589-3C>A (n.589-3C>A)
c.493-3C>A (n.493-3C>A)
n.517-3C>A
gnomAD v4 COSMIC
9g.136674815_136674818delCA2692654229AGPAT2c.589-6_589-3del (n.589-6_589-3del)
c.493-6_493-3del (n.493-6_493-3del)
n.517-6_517-3del
gnomAD v4
9g.136674811C>ACA2692654234AGPAT2c.589-4G>T (n.589-4G>T)
c.493-4G>T (n.493-4G>T)
n.517-4G>T
gnomAD v4
9g.136674811C>GCA2692654233AGPAT2c.589-4G>C (n.589-4G>C)
c.493-4G>C (n.493-4G>C)
n.517-4G>C
gnomAD v4
9g.136674811C>TCA2692654232AGPAT2c.589-4G>A (n.589-4G>A)
c.493-4G>A (n.493-4G>A)
n.517-4G>A
gnomAD v4
9g.136674811dupCA2579519921AGPAT2c.589-4dup (n.589-4dup)
c.493-4dup (n.493-4dup)
n.517-4dup
9g.136674812_136674863delCA2497275519AGPAT2c.589-55_589-4del (n.589-55_589-4del)
c.493-55_493-4del (n.493-55_493-4del)
n.517-55_517-4del
dbSNP
9g.136674812A>GCA2692654235AGPAT2c.589-5T>C (n.589-5T>C)
c.493-5T>C (n.493-5T>C)
n.517-5T>C
gnomAD v4
9g.136674813G>ACA2692654236AGPAT2c.589-6C>T (n.589-6C>T)
c.493-6C>T (n.493-6C>T)
n.517-6C>T
dbSNP gnomAD v4
9g.136674813G>TCA2692654237AGPAT2c.589-6C>A (n.589-6C>A)
c.493-6C>A (n.493-6C>A)
n.517-6C>A
gnomAD v4
9g.136674814G>ACA2692654238AGPAT2c.589-7C>T (n.589-7C>T)
c.493-7C>T (n.493-7C>T)
n.517-7C>T
dbSNP gnomAD v4
9g.136674814G>TCA2692654239AGPAT2c.589-7C>A (n.589-7C>A)
c.493-7C>A (n.493-7C>A)
n.517-7C>A
gnomAD v4
9g.136674815C>ACA2692654240AGPAT2c.589-8G>T (n.589-8G>T)
c.493-8G>T (n.493-8G>T)
n.517-8G>T
gnomAD v4
9g.136674815C>TCA2579519922AGPAT2c.589-8G>A (n.589-8G>A)
c.493-8G>A (n.493-8G>A)
n.517-8G>A
gnomAD v4
9g.136674816A>GCA2692654241AGPAT2c.589-9T>C (n.589-9T>C)
c.493-9T>C (n.493-9T>C)
n.517-9T>C
gnomAD v4
9g.136674816A>TCA2692654242AGPAT2c.589-9T>A (n.589-9T>A)
c.493-9T>A (n.493-9T>A)
n.517-9T>A
gnomAD v4

Number of alleles fetched