Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.21564047C>ACA338877704ALPLc.479C>A (p.Ser160Tyr)
n.539C>A
c.248C>A (p.Ser83Tyr)
c.314C>A (p.Ser105Tyr)
c.323C>A (p.Ser108Tyr)
 dbSNP
1g.21564047C=CA1158014437ALPLc.479C= (p.Ser160=)
n.539C=
c.248C= (p.Ser83=)
c.314C= (p.Ser105=)
c.323C= (p.Ser108=)
1g.21564047C>GCA338877706ALPLc.479C>G (p.Ser160Cys)
n.539C>G
c.248C>G (p.Ser83Cys)
c.314C>G (p.Ser105Cys)
c.323C>G (p.Ser108Cys)
1g.21564047C>TCA338877708ALPLc.479C>T (p.Ser160Phe)
n.539C>T
c.248C>T (p.Ser83Phe)
c.314C>T (p.Ser105Phe)
c.323C>T (p.Ser108Phe)
1g.21564047_21564048delinsCTCA1158014438ALPLc.479_480delinsCT (p.Ser160=)
n.539_540delinsCT
c.248_249delinsCT (p.Ser83=)
c.314_315delinsCT (p.Ser105=)
c.323_324delinsCT (p.Ser108=)
1g.21564048delCA1158014439ALPLc.480del (p.Val161TrpfsTer4)
n.540del
c.249del (p.Val84TrpfsTer4)
c.315del (p.Val106TrpfsTer4)
c.324del (p.Val109TrpfsTer4)
 ClinVar dbSNP gnomAD v4
1g.21564048T>ACA416527462ALPLc.480T>A (p.Ser160=)
n.540T>A
c.249T>A (p.Ser83=)
c.315T>A (p.Ser105=)
c.324T>A (p.Ser108=)
1g.21564048T>CCA416527465ALPLc.480T>C (p.Ser160=)
n.540T>C
c.249T>C (p.Ser83=)
c.315T>C (p.Ser105=)
c.324T>C (p.Ser108=)
1g.21564048T>GCA416527464ALPLc.480T>G (p.Ser160=)
n.540T>G
c.249T>G (p.Ser83=)
c.315T>G (p.Ser105=)
c.324T>G (p.Ser108=)
1g.21564049G>ACA338877710ALPLc.481G>A (p.Val161Met)
n.541G>A
c.250G>A (p.Val84Met)
c.316G>A (p.Val106Met)
c.325G>A (p.Val109Met)
 gnomAD v4
1g.21564049G>CCA338877712ALPLc.481G>C (p.Val161Leu)
n.541G>C
c.250G>C (p.Val84Leu)
c.316G>C (p.Val106Leu)
c.325G>C (p.Val109Leu)
1g.21564049G>TCA338877714ALPLc.481G>T (p.Val161Leu)
n.541G>T
c.250G>T (p.Val84Leu)
c.316G>T (p.Val106Leu)
c.325G>T (p.Val109Leu)
1g.21564050T>ACA338877716ALPLc.482T>A (p.Val161Glu)
n.542T>A
c.251T>A (p.Val84Glu)
c.317T>A (p.Val106Glu)
c.326T>A (p.Val109Glu)
1g.21564050T>CCA338877718ALPLc.482T>C (p.Val161Ala)
n.542T>C
c.251T>C (p.Val84Ala)
c.317T>C (p.Val106Ala)
c.326T>C (p.Val109Ala)
1g.21564050T>GCA338877720ALPLc.482T>G (p.Val161Gly)
n.542T>G
c.251T>G (p.Val84Gly)
c.317T>G (p.Val106Gly)
c.326T>G (p.Val109Gly)
1g.21564051G>ACA416527475ALPLc.483G>A (p.Val161=)
n.543G>A
c.252G>A (p.Val84=)
c.318G>A (p.Val106=)
c.327G>A (p.Val109=)
1g.21564051G>CCA416527478ALPLc.483G>C (p.Val161=)
n.543G>C
c.252G>C (p.Val84=)
c.318G>C (p.Val106=)
c.327G>C (p.Val109=)
1g.21564051G>TCA416527477ALPLc.483G>T (p.Val161=)
n.543G>T
c.252G>T (p.Val84=)
c.318G>T (p.Val106=)
c.327G>T (p.Val109=)
1g.21564052G>ACA666514ALPLc.484G>A (p.Gly162Ser)
n.544G>A
c.253G>A (p.Gly85Ser)
c.319G>A (p.Gly107Ser)
c.328G>A (p.Gly110Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21564052G>CCA338877725ALPLc.484G>C (p.Gly162Arg)
n.544G>C
c.253G>C (p.Gly85Arg)
c.319G>C (p.Gly107Arg)
c.328G>C (p.Gly110Arg)
1g.21564052G=CA1158014440ALPLc.484G= (p.Gly162=)
n.544G=
c.253G= (p.Gly85=)
c.319G= (p.Gly107=)
c.328G= (p.Gly110=)
1g.21564052G>TCA338877723ALPLc.484G>T (p.Gly162Cys)
n.544G>T
c.253G>T (p.Gly85Cys)
c.319G>T (p.Gly107Cys)
c.328G>T (p.Gly110Cys)
1g.21564053G>ACA338877726ALPLc.485G>A (p.Gly162Asp)
n.545G>A
c.254G>A (p.Gly85Asp)
c.320G>A (p.Gly107Asp)
c.329G>A (p.Gly110Asp)
1g.21564053G>CCA338877728ALPLc.485G>C (p.Gly162Ala)
n.545G>C
c.254G>C (p.Gly85Ala)
c.320G>C (p.Gly107Ala)
c.329G>C (p.Gly110Ala)
1g.21564053G=CA1141580636ALPLc.485G= (p.Gly162=)
n.545G=
c.254G= (p.Gly85=)
c.320G= (p.Gly107=)
c.329G= (p.Gly110=)
1g.21564053G>TCA256933ALPLc.485G>T (p.Gly162Val)
n.545G>T
c.254G>T (p.Gly85Val)
c.320G>T (p.Gly107Val)
c.329G>T (p.Gly110Val)
 ClinVar dbSNP gnomAD v4
1g.21564054C>ACA416527488ALPLc.486C>A (p.Gly162=)
n.546C>A
c.255C>A (p.Gly85=)
c.321C>A (p.Gly107=)
c.330C>A (p.Gly110=)
1g.21564054C>GCA416527490ALPLc.486C>G (p.Gly162=)
n.546C>G
c.255C>G (p.Gly85=)
c.321C>G (p.Gly107=)
c.330C>G (p.Gly110=)
1g.21564054C>TCA416527487ALPLc.486C>T (p.Gly162=)
n.546C>T
c.255C>T (p.Gly85=)
c.321C>T (p.Gly107=)
c.330C>T (p.Gly110=)
 ClinVar
1g.21564055A>CCA338877732ALPLc.487A>C (p.Ile163Leu)
n.547A>C
c.256A>C (p.Ile86Leu)
c.322A>C (p.Ile108Leu)
c.331A>C (p.Ile111Leu)
1g.21564055A>GCA338877733ALPLc.487A>G (p.Ile163Val)
n.547A>G
c.256A>G (p.Ile86Val)
c.322A>G (p.Ile108Val)
c.331A>G (p.Ile111Val)
1g.21564055A>TCA338877735ALPLc.487A>T (p.Ile163Phe)
n.547A>T
c.256A>T (p.Ile86Phe)
c.322A>T (p.Ile108Phe)
c.331A>T (p.Ile111Phe)
1g.21564056T>ACA338877736ALPLc.488T>A (p.Ile163Asn)
n.548T>A
c.257T>A (p.Ile86Asn)
c.323T>A (p.Ile108Asn)
c.332T>A (p.Ile111Asn)
1g.21564056T>CCA338877739ALPLc.488T>C (p.Ile163Thr)
n.548T>C
c.257T>C (p.Ile86Thr)
c.323T>C (p.Ile108Thr)
c.332T>C (p.Ile111Thr)
1g.21564056T>GCA338877741ALPLc.488T>G (p.Ile163Ser)
n.548T>G
c.257T>G (p.Ile86Ser)
c.323T>G (p.Ile108Ser)
c.332T>G (p.Ile111Ser)
1g.21564057T>ACA416527500ALPLc.489T>A (p.Ile163=)
n.549T>A
c.258T>A (p.Ile86=)
c.324T>A (p.Ile108=)
c.333T>A (p.Ile111=)
1g.21564057T>CCA416527499ALPLc.489T>C (p.Ile163=)
n.549T>C
c.258T>C (p.Ile86=)
c.324T>C (p.Ile108=)
c.333T>C (p.Ile111=)
1g.21564057T>GCA338877743ALPLc.489T>G (p.Ile163Met)
n.549T>G
c.258T>G (p.Ile86Met)
c.324T>G (p.Ile108Met)
c.333T>G (p.Ile111Met)
1g.21564058G>ACA338877745ALPLc.490G>A (p.Val164Met)
n.550G>A
c.259G>A (p.Val87Met)
c.325G>A (p.Val109Met)
c.334G>A (p.Val112Met)
1g.21564058G>CCA338877747ALPLc.490G>C (p.Val164Leu)
n.550G>C
c.259G>C (p.Val87Leu)
c.325G>C (p.Val109Leu)
c.334G>C (p.Val112Leu)
1g.21564058G>TCA338877749ALPLc.490G>T (p.Val164Leu)
n.550G>T
c.259G>T (p.Val87Leu)
c.325G>T (p.Val109Leu)
c.334G>T (p.Val112Leu)
1g.21564058_21564079dupCA2643930479ALPLc.490_511dup (p.His171ArgfsTer20)
n.550_571dup
c.259_280dup (p.His94ArgfsTer20)
c.325_346dup (p.His116ArgfsTer20)
c.334_355dup (p.His119ArgfsTer20)
 gnomAD v4
1g.21564059T>ACA338877752ALPLc.491T>A (p.Val164Glu)
n.551T>A
c.260T>A (p.Val87Glu)
c.326T>A (p.Val109Glu)
c.335T>A (p.Val112Glu)
1g.21564059T>CCA338877756ALPLc.491T>C (p.Val164Ala)
n.551T>C
c.260T>C (p.Val87Ala)
c.326T>C (p.Val109Ala)
c.335T>C (p.Val112Ala)
1g.21564059T>GCA338877754ALPLc.491T>G (p.Val164Gly)
n.551T>G
c.260T>G (p.Val87Gly)
c.326T>G (p.Val109Gly)
c.335T>G (p.Val112Gly)
1g.21564060G>ACA666515ALPLc.492G>A (p.Val164=)
n.552G>A
c.261G>A (p.Val87=)
c.327G>A (p.Val109=)
c.336G>A (p.Val112=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21564060G>CCA416527516ALPLc.492G>C (p.Val164=)
n.552G>C
c.261G>C (p.Val87=)
c.327G>C (p.Val109=)
c.336G>C (p.Val112=)
1g.21564060G=CA1158014441ALPLc.492G= (p.Val164=)
n.552G=
c.261G= (p.Val87=)
c.327G= (p.Val109=)
c.336G= (p.Val112=)
1g.21564060G>TCA416527513ALPLc.492G>T (p.Val164=)
n.552G>T
c.261G>T (p.Val87=)
c.327G>T (p.Val109=)
c.336G>T (p.Val112=)
1g.21564061A>CCA338877760ALPLc.493A>C (p.Thr165Pro)
n.553A>C
c.262A>C (p.Thr88Pro)
c.328A>C (p.Thr110Pro)
c.337A>C (p.Thr113Pro)
1g.21564061A>GCA338877762ALPLc.493A>G (p.Thr165Ala)
n.553A>G
c.262A>G (p.Thr88Ala)
c.328A>G (p.Thr110Ala)
c.337A>G (p.Thr113Ala)
1g.21564061A>TCA338877764ALPLc.493A>T (p.Thr165Ser)
n.553A>T
c.262A>T (p.Thr88Ser)
c.328A>T (p.Thr110Ser)
c.337A>T (p.Thr113Ser)
1g.21564066_21564068delCA2740090617ALPLc.498_500del (p.Thr167del)
n.558_560del
c.267_269del (p.Thr90del)
c.333_335del (p.Thr112del)
c.342_344del (p.Thr115del)
 ClinVar
1g.21564062C>ACA338877767ALPLc.494C>A (p.Thr165Asn)
n.554C>A
c.263C>A (p.Thr88Asn)
c.329C>A (p.Thr110Asn)
c.338C>A (p.Thr113Asn)
1g.21564062C=CA1158014442ALPLc.494C= (p.Thr165=)
n.554C=
c.263C= (p.Thr88=)
c.329C= (p.Thr110=)
c.338C= (p.Thr113=)
1g.21564062C>GCA338877768ALPLc.494C>G (p.Thr165Ser)
n.554C>G
c.263C>G (p.Thr88Ser)
c.329C>G (p.Thr110Ser)
c.338C>G (p.Thr113Ser)
1g.21564062C>TCA666516ALPLc.494C>T (p.Thr165Ile)
n.554C>T
c.263C>T (p.Thr88Ile)
c.329C>T (p.Thr110Ile)
c.338C>T (p.Thr113Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21564063C>ACA416527528ALPLc.495C>A (p.Thr165=)
n.555C>A
c.264C>A (p.Thr88=)
c.330C>A (p.Thr110=)
c.339C>A (p.Thr113=)
 ClinVar dbSNP
1g.21564063C>GCA416527529ALPLc.495C>G (p.Thr165=)
n.555C>G
c.264C>G (p.Thr88=)
c.330C>G (p.Thr110=)
c.339C>G (p.Thr113=)
1g.21564063C>TCA416527531ALPLc.495C>T (p.Thr165=)
n.555C>T
c.264C>T (p.Thr88=)
c.330C>T (p.Thr110=)
c.339C>T (p.Thr113=)
 ClinVar dbSNP gnomAD v4
1g.21564064A>CCA338877772ALPLc.496A>C (p.Thr166Pro)
n.556A>C
c.265A>C (p.Thr89Pro)
c.331A>C (p.Thr111Pro)
c.340A>C (p.Thr114Pro)
1g.21564064A>GCA338877774ALPLc.496A>G (p.Thr166Ala)
n.556A>G
c.265A>G (p.Thr89Ala)
c.331A>G (p.Thr111Ala)
c.340A>G (p.Thr114Ala)
 gnomAD v4
1g.21564064A>TCA338877777ALPLc.496A>T (p.Thr166Ser)
n.556A>T
c.265A>T (p.Thr89Ser)
c.331A>T (p.Thr111Ser)
c.340A>T (p.Thr114Ser)
1g.21564065C>ACA338877782ALPLc.497C>A (p.Thr166Asn)
n.557C>A
c.266C>A (p.Thr89Asn)
c.332C>A (p.Thr111Asn)
c.341C>A (p.Thr114Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.21564065C=CA1158014443ALPLc.497C= (p.Thr166=)
n.557C=
c.266C= (p.Thr89=)
c.332C= (p.Thr111=)
c.341C= (p.Thr114=)
1g.21564065C>GCA338877783ALPLc.497C>G (p.Thr166Ser)
n.557C>G
c.266C>G (p.Thr89Ser)
c.332C>G (p.Thr111Ser)
c.341C>G (p.Thr114Ser)
1g.21564065C>TCA338877780ALPLc.497C>T (p.Thr166Ile)
n.557C>T
c.266C>T (p.Thr89Ile)
c.332C>T (p.Thr111Ile)
c.341C>T (p.Thr114Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21564066C>ACA416527548ALPLc.498C>A (p.Thr166=)
n.558C>A
c.267C>A (p.Thr89=)
c.333C>A (p.Thr111=)
c.342C>A (p.Thr114=)
 ClinVar dbSNP gnomAD v4
1g.21564066C=CA1158014444ALPLc.498C= (p.Thr166=)
n.558C=
c.267C= (p.Thr89=)
c.333C= (p.Thr111=)
c.342C= (p.Thr114=)
1g.21564066C>GCA416527551ALPLc.498C>G (p.Thr166=)
n.558C>G
c.267C>G (p.Thr89=)
c.333C>G (p.Thr111=)
c.342C>G (p.Thr114=)
 ClinVar dbSNP
1g.21564066C>TCA416527549ALPLc.498C>T (p.Thr166=)
n.558C>T
c.267C>T (p.Thr89=)
c.333C>T (p.Thr111=)
c.342C>T (p.Thr114=)
1g.21564067A=CA1158014445ALPLc.499A= (p.Thr167=)
n.559A=
c.268A= (p.Thr90=)
c.334A= (p.Thr112=)
c.343A= (p.Thr115=)
1g.21564067A>CCA338877784ALPLc.499A>C (p.Thr167Pro)
n.559A>C
c.268A>C (p.Thr90Pro)
c.334A>C (p.Thr112Pro)
c.343A>C (p.Thr115Pro)
1g.21564067A>GCA338877785ALPLc.499A>G (p.Thr167Ala)
n.559A>G
c.268A>G (p.Thr90Ala)
c.334A>G (p.Thr112Ala)
c.343A>G (p.Thr115Ala)
 ClinVar dbSNP
1g.21564067A>TCA338877786ALPLc.499A>T (p.Thr167Ser)
n.559A>T
c.268A>T (p.Thr90Ser)
c.334A>T (p.Thr112Ser)
c.343A>T (p.Thr115Ser)
1g.21564068C>ACA338877787ALPLc.500C>A (p.Thr167Lys)
n.560C>A
c.269C>A (p.Thr90Lys)
c.335C>A (p.Thr112Lys)
c.344C>A (p.Thr115Lys)
 ClinVar dbSNP
1g.21564068C=CA1158014446ALPLc.500C= (p.Thr167=)
n.560C=
c.269C= (p.Thr90=)
c.335C= (p.Thr112=)
c.344C= (p.Thr115=)
1g.21564068C>GCA338877788ALPLc.500C>G (p.Thr167Arg)
n.560C>G
c.269C>G (p.Thr90Arg)
c.335C>G (p.Thr112Arg)
c.344C>G (p.Thr115Arg)
1g.21564068C>TCA338877789ALPLc.500C>T (p.Thr167Met)
n.560C>T
c.269C>T (p.Thr90Met)
c.335C>T (p.Thr112Met)
c.344C>T (p.Thr115Met)
 ClinVar dbSNP gnomAD v4
1g.21564068_21564096delCA2499214449ALPLc.500_528del (p.Thr167SerfsTer7)
n.560_588del
c.269_297del (p.Thr90SerfsTer7)
c.335_363del (p.Thr112SerfsTer7)
c.344_372del (p.Thr115SerfsTer7)
 dbSNP
1g.21564069G>ACA416527570ALPLc.501G>A (p.Thr167=)
n.561G>A
c.270G>A (p.Thr90=)
c.336G>A (p.Thr112=)
c.345G>A (p.Thr115=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21564069G>CCA416527573ALPLc.501G>C (p.Thr167=)
n.561G>C
c.270G>C (p.Thr90=)
c.336G>C (p.Thr112=)
c.345G>C (p.Thr115=)
 dbSNP gnomAD v3 gnomAD v4
1g.21564069G=CA1158014447ALPLc.501G= (p.Thr167=)
n.561G=
c.270G= (p.Thr90=)
c.336G= (p.Thr112=)
c.345G= (p.Thr115=)
1g.21564069G>TCA416527567ALPLc.501G>T (p.Thr167=)
n.561G>T
c.270G>T (p.Thr90=)
c.336G>T (p.Thr112=)
c.345G>T (p.Thr115=)
1g.21564072_21564073delCA2695498631ALPLc.504_505del (p.Arg168SerfsTer15)
n.564_565del
c.273_274del (p.Arg91SerfsTer15)
c.339_340del (p.Arg113SerfsTer15)
c.348_349del (p.Arg116SerfsTer15)
 dbSNP
1g.21564070A>CCA416527576ALPLc.502A>C (p.Arg168=)
n.562A>C
c.271A>C (p.Arg91=)
c.337A>C (p.Arg113=)
c.346A>C (p.Arg116=)
1g.21564070A>GCA338877790ALPLc.502A>G (p.Arg168Gly)
n.562A>G
c.271A>G (p.Arg91Gly)
c.337A>G (p.Arg113Gly)
c.346A>G (p.Arg116Gly)
1g.21564070A>TCA338877791ALPLc.502A>T (p.Arg168Ter)
n.562A>T
c.271A>T (p.Arg91Ter)
c.337A>T (p.Arg113Ter)
c.346A>T (p.Arg116Ter)
1g.21564071G>ACA338877792ALPLc.503G>A (p.Arg168Lys)
n.563G>A
c.272G>A (p.Arg91Lys)
c.338G>A (p.Arg113Lys)
c.347G>A (p.Arg116Lys)
1g.21564071G>CCA338877793ALPLc.503G>C (p.Arg168Thr)
n.563G>C
c.272G>C (p.Arg91Thr)
c.338G>C (p.Arg113Thr)
c.347G>C (p.Arg116Thr)
1g.21564071G>TCA338877794ALPLc.503G>T (p.Arg168Ile)
n.563G>T
c.272G>T (p.Arg91Ile)
c.338G>T (p.Arg113Ile)
c.347G>T (p.Arg116Ile)
 gnomAD v4
1g.21564072A=CA1158014448ALPLc.504A= (p.Arg168=)
n.564A=
c.273A= (p.Arg91=)
c.339A= (p.Arg113=)
c.348A= (p.Arg116=)
1g.21564072A>CCA338877795ALPLc.504A>C (p.Arg168Ser)
n.564A>C
c.273A>C (p.Arg91Ser)
c.339A>C (p.Arg113Ser)
c.348A>C (p.Arg116Ser)
1g.21564072A>GCA416527589ALPLc.504A>G (p.Arg168=)
n.564A>G
c.273A>G (p.Arg91=)
c.339A>G (p.Arg113=)
c.348A>G (p.Arg116=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21564072A>TCA338877796ALPLc.504A>T (p.Arg168Ser)
n.564A>T
c.273A>T (p.Arg91Ser)
c.339A>T (p.Arg113Ser)
c.348A>T (p.Arg116Ser)
 gnomAD v4
1g.21564073G>ACA338877799ALPLc.505G>A (p.Val169Met)
n.565G>A
c.274G>A (p.Val92Met)
c.340G>A (p.Val114Met)
c.349G>A (p.Val117Met)
1g.21564073G>CCA338877798ALPLc.505G>C (p.Val169Leu)
n.565G>C
c.274G>C (p.Val92Leu)
c.340G>C (p.Val114Leu)
c.349G>C (p.Val117Leu)
1g.21564073G>TCA338877797ALPLc.505G>T (p.Val169Leu)
n.565G>T
c.274G>T (p.Val92Leu)
c.340G>T (p.Val114Leu)
c.349G>T (p.Val117Leu)
 gnomAD v4
1g.21564074T>ACA338877800ALPLc.506T>A (p.Val169Glu)
n.566T>A
c.275T>A (p.Val92Glu)
c.341T>A (p.Val114Glu)
c.350T>A (p.Val117Glu)
1g.21564074T>CCA338877801ALPLc.506T>C (p.Val169Ala)
n.566T>C
c.275T>C (p.Val92Ala)
c.341T>C (p.Val114Ala)
c.350T>C (p.Val117Ala)
1g.21564074T>GCA338877802ALPLc.506T>G (p.Val169Gly)
n.566T>G
c.275T>G (p.Val92Gly)
c.341T>G (p.Val114Gly)
c.350T>G (p.Val117Gly)
1g.21564075G>ACA416527611ALPLc.507G>A (p.Val169=)
n.567G>A
c.276G>A (p.Val92=)
c.342G>A (p.Val114=)
c.351G>A (p.Val117=)
1g.21564075G>CCA416527608ALPLc.507G>C (p.Val169=)
n.567G>C
c.276G>C (p.Val92=)
c.342G>C (p.Val114=)
c.351G>C (p.Val117=)
1g.21564075G>TCA416527612ALPLc.507G>T (p.Val169=)
n.567G>T
c.276G>T (p.Val92=)
c.342G>T (p.Val114=)
c.351G>T (p.Val117=)
1g.21564076A>CCA338877803ALPLc.508A>C (p.Asn170His)
n.568A>C
c.277A>C (p.Asn93His)
c.343A>C (p.Asn115His)
c.352A>C (p.Asn118His)
1g.21564076A>GCA338877804ALPLc.508A>G (p.Asn170Asp)
n.568A>G
c.277A>G (p.Asn93Asp)
c.343A>G (p.Asn115Asp)
c.352A>G (p.Asn118Asp)
 ClinVar dbSNP gnomAD v4
1g.21564076A>TCA338877805ALPLc.508A>T (p.Asn170Tyr)
n.568A>T
c.277A>T (p.Asn93Tyr)
c.343A>T (p.Asn115Tyr)
c.352A>T (p.Asn118Tyr)
1g.21564077A>CCA338877806ALPLc.509A>C (p.Asn170Thr)
n.569A>C
c.278A>C (p.Asn93Thr)
c.344A>C (p.Asn115Thr)
c.353A>C (p.Asn118Thr)
1g.21564077A>GCA338877807ALPLc.509A>G (p.Asn170Ser)
n.569A>G
c.278A>G (p.Asn93Ser)
c.344A>G (p.Asn115Ser)
c.353A>G (p.Asn118Ser)
 COSMIC
1g.21564077A>TCA338877808ALPLc.509A>T (p.Asn170Ile)
n.569A>T
c.278A>T (p.Asn93Ile)
c.344A>T (p.Asn115Ile)
c.353A>T (p.Asn118Ile)
1g.21564078C>ACA338877809ALPLc.510C>A (p.Asn170Lys)
n.570C>A
c.279C>A (p.Asn93Lys)
c.345C>A (p.Asn115Lys)
c.354C>A (p.Asn118Lys)
1g.21564078C=CA1143959686ALPLc.510C= (p.Asn170=)
n.570C=
c.279C= (p.Asn93=)
c.345C= (p.Asn115=)
c.354C= (p.Asn118=)
1g.21564078C>GCA338877810ALPLc.510C>G (p.Asn170Lys)
n.570C>G
c.279C>G (p.Asn93Lys)
c.345C>G (p.Asn115Lys)
c.354C>G (p.Asn118Lys)
1g.21564078C>TCA666517ALPLc.510C>T (p.Asn170=)
n.570C>T
c.279C>T (p.Asn93=)
c.345C>T (p.Asn115=)
c.354C>T (p.Asn118=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21564079delCA2580061461ALPLc.511del (p.His171MetfsTer27)
n.571del
c.280del (p.His94MetfsTer27)
c.346del (p.His116MetfsTer27)
c.355del (p.His119MetfsTer27)
 ClinVar
1g.21564079C>ACA338877811ALPLc.511C>A (p.His171Asn)
n.571C>A
c.280C>A (p.His94Asn)
c.346C>A (p.His116Asn)
c.355C>A (p.His119Asn)
1g.21564079C>GCA338877812ALPLc.511C>G (p.His171Asp)
n.571C>G
c.280C>G (p.His94Asp)
c.346C>G (p.His116Asp)
c.355C>G (p.His119Asp)
 ClinVar
1g.21564079C>TCA338877814ALPLc.511C>T (p.His171Tyr)
n.571C>T
c.280C>T (p.His94Tyr)
c.346C>T (p.His116Tyr)
c.355C>T (p.His119Tyr)
 gnomAD v4
1g.21564080A=CA1158014449ALPLc.512A= (p.His171=)
n.572A=
c.281A= (p.His94=)
c.347A= (p.His116=)
c.356A= (p.His119=)
1g.21564080A>CCA338877818ALPLc.512A>C (p.His171Pro)
n.572A>C
c.281A>C (p.His94Pro)
c.347A>C (p.His116Pro)
c.356A>C (p.His119Pro)
1g.21564080A>GCA666518ALPLc.512A>G (p.His171Arg)
n.572A>G
c.281A>G (p.His94Arg)
c.347A>G (p.His116Arg)
c.356A>G (p.His119Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21564080A>TCA338877817ALPLc.512A>T (p.His171Leu)
n.572A>T
c.281A>T (p.His94Leu)
c.347A>T (p.His116Leu)
c.356A>T (p.His119Leu)
1g.21564081T>ACA338877821ALPLc.513T>A (p.His171Gln)
n.573T>A
c.282T>A (p.His94Gln)
c.348T>A (p.His116Gln)
c.357T>A (p.His119Gln)
1g.21564081T>CCA416527661ALPLc.513T>C (p.His171=)
n.573T>C
c.282T>C (p.His94=)
c.348T>C (p.His116=)
c.357T>C (p.His119=)
 ClinVar gnomAD v4
1g.21564081T>GCA338877823ALPLc.513T>G (p.His171Gln)
n.573T>G
c.282T>G (p.His94Gln)
c.348T>G (p.His116Gln)
c.357T>G (p.His119Gln)
1g.21564082G>ACA338877826ALPLc.514G>A (p.Ala172Thr)
n.574G>A
c.283G>A (p.Ala95Thr)
c.349G>A (p.Ala117Thr)
c.358G>A (p.Ala120Thr)
1g.21564082G>CCA338877828ALPLc.514G>C (p.Ala172Pro)
n.574G>C
c.283G>C (p.Ala95Pro)
c.349G>C (p.Ala117Pro)
c.358G>C (p.Ala120Pro)
1g.21564082G>TCA338877829ALPLc.514G>T (p.Ala172Ser)
n.574G>T
c.283G>T (p.Ala95Ser)
c.349G>T (p.Ala117Ser)
c.358G>T (p.Ala120Ser)
1g.21564082_21564083delinsGCCA1158014450ALPLc.514_515delinsGC (p.Ala172=)
n.574_575delinsGC
c.283_284delinsGC (p.Ala95=)
c.349_350delinsGC (p.Ala117=)
c.358_359delinsGC (p.Ala120=)
1g.21564083C>ACA338877832ALPLc.515C>A (p.Ala172Asp)
n.575C>A
c.284C>A (p.Ala95Asp)
c.350C>A (p.Ala117Asp)
c.359C>A (p.Ala120Asp)
 ClinVar dbSNP
1g.21564083C=CA1158014452ALPLc.515C= (p.Ala172=)
n.575C=
c.284C= (p.Ala95=)
c.350C= (p.Ala117=)
c.359C= (p.Ala120=)
1g.21564083C>GCA338877834ALPLc.515C>G (p.Ala172Gly)
n.575C>G
c.284C>G (p.Ala95Gly)
c.350C>G (p.Ala117Gly)
c.359C>G (p.Ala120Gly)
1g.21564083C>TCA338877836ALPLc.515C>T (p.Ala172Val)
n.575C>T
c.284C>T (p.Ala95Val)
c.350C>T (p.Ala117Val)
c.359C>T (p.Ala120Val)
 ClinVar dbSNP
1g.21564084delCA1158014451ALPLc.516del (p.Thr173ProfsTer25)
n.576del
c.285del (p.Thr96ProfsTer25)
c.351del (p.Thr118ProfsTer25)
c.360del (p.Thr121ProfsTer25)
 dbSNP
1g.21564084C>ACA416527683ALPLc.516C>A (p.Ala172=)
n.576C>A
c.285C>A (p.Ala95=)
c.351C>A (p.Ala117=)
c.360C>A (p.Ala120=)
 ClinVar dbSNP
1g.21564084C>GCA416527685ALPLc.516C>G (p.Ala172=)
n.576C>G
c.285C>G (p.Ala95=)
c.351C>G (p.Ala117=)
c.360C>G (p.Ala120=)
1g.21564084C>TCA416527687ALPLc.516C>T (p.Ala172=)
n.576C>T
c.285C>T (p.Ala95=)
c.351C>T (p.Ala117=)
c.360C>T (p.Ala120=)
 gnomAD v4
1g.21564085A=CA1158014454ALPLc.517A= (p.Thr173=)
n.577A=
c.286A= (p.Thr96=)
c.352A= (p.Thr118=)
c.361A= (p.Thr121=)
1g.21564085A>CCA338877839ALPLc.517A>C (p.Thr173Pro)
n.577A>C
c.286A>C (p.Thr96Pro)
c.352A>C (p.Thr118Pro)
c.361A>C (p.Thr121Pro)
 dbSNP
1g.21564085A>GCA338877840ALPLc.517A>G (p.Thr173Ala)
n.577A>G
c.286A>G (p.Thr96Ala)
c.352A>G (p.Thr118Ala)
c.361A>G (p.Thr121Ala)
 ClinVar gnomAD v4
1g.21564085A>TCA338877842ALPLc.517A>T (p.Thr173Ser)
n.577A>T
c.286A>T (p.Thr96Ser)
c.352A>T (p.Thr118Ser)
c.361A>T (p.Thr121Ser)
1g.21564085_21564086delinsACCA1158014453ALPLc.517_518delinsAC (p.Thr173=)
n.577_578delinsAC
c.286_287delinsAC (p.Thr96=)
c.352_353delinsAC (p.Thr118=)
c.361_362delinsAC (p.Thr121=)
1g.21564086C>ACA338877851ALPLc.518C>A (p.Thr173Asn)
n.578C>A
c.287C>A (p.Thr96Asn)
c.353C>A (p.Thr118Asn)
c.362C>A (p.Thr121Asn)
1g.21564086C>GCA338877849ALPLc.518C>G (p.Thr173Ser)
n.578C>G
c.287C>G (p.Thr96Ser)
c.353C>G (p.Thr118Ser)
c.362C>G (p.Thr121Ser)
1g.21564086C>TCA338877853ALPLc.518C>T (p.Thr173Ile)
n.578C>T
c.287C>T (p.Thr96Ile)
c.353C>T (p.Thr118Ile)
c.362C>T (p.Thr121Ile)
 ClinVar gnomAD v4
1g.21564090dupCA2643930480ALPLc.522dup (p.Ser175GlnfsTer9)
n.582dup
c.291dup (p.Ser98GlnfsTer9)
c.357dup (p.Ser120GlnfsTer9)
c.366dup (p.Ser123GlnfsTer9)
 gnomAD v4
1g.21564090delCA666519ALPLc.522del (p.Ser175AlafsTer23)
n.582del
c.291del (p.Ser98AlafsTer23)
c.357del (p.Ser120AlafsTer23)
c.366del (p.Ser123AlafsTer23)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21564087C>ACA416527708ALPLc.519C>A (p.Thr173=)
n.579C>A
c.288C>A (p.Thr96=)
c.354C>A (p.Thr118=)
c.363C>A (p.Thr121=)
1g.21564087C>GCA416527714ALPLc.519C>G (p.Thr173=)
n.579C>G
c.288C>G (p.Thr96=)
c.354C>G (p.Thr118=)
c.363C>G (p.Thr121=)
1g.21564087C>TCA416527710ALPLc.519C>T (p.Thr173=)
n.579C>T
c.288C>T (p.Thr96=)
c.354C>T (p.Thr118=)
c.363C>T (p.Thr121=)
1g.21564088C>ACA338877855ALPLc.520C>A (p.Pro174Thr)
n.580C>A
c.289C>A (p.Pro97Thr)
c.355C>A (p.Pro119Thr)
c.364C>A (p.Pro122Thr)
1g.21564088C>GCA338877857ALPLc.520C>G (p.Pro174Ala)
n.580C>G
c.289C>G (p.Pro97Ala)
c.355C>G (p.Pro119Ala)
c.364C>G (p.Pro122Ala)
1g.21564088C>TCA338877859ALPLc.520C>T (p.Pro174Ser)
n.580C>T
c.289C>T (p.Pro97Ser)
c.355C>T (p.Pro119Ser)
c.364C>T (p.Pro122Ser)
 ClinVar gnomAD v4
1g.21564089C>ACA338877861ALPLc.521C>A (p.Pro174His)
n.581C>A
c.290C>A (p.Pro97His)
c.356C>A (p.Pro119His)
c.365C>A (p.Pro122His)
1g.21564089C>GCA338877863ALPLc.521C>G (p.Pro174Arg)
n.581C>G
c.290C>G (p.Pro97Arg)
c.356C>G (p.Pro119Arg)
c.365C>G (p.Pro122Arg)
1g.21564089C>TCA338877865ALPLc.521C>T (p.Pro174Leu)
n.581C>T
c.290C>T (p.Pro97Leu)
c.356C>T (p.Pro119Leu)
c.365C>T (p.Pro122Leu)
1g.21564090C>ACA416527731ALPLc.522C>A (p.Pro174=)
n.582C>A
c.291C>A (p.Pro97=)
c.357C>A (p.Pro119=)
c.366C>A (p.Pro122=)
1g.21564090C>GCA416527730ALPLc.522C>G (p.Pro174=)
n.582C>G
c.291C>G (p.Pro97=)
c.357C>G (p.Pro119=)
c.366C>G (p.Pro122=)
1g.21564090C>TCA416527733ALPLc.522C>T (p.Pro174=)
n.582C>T
c.291C>T (p.Pro97=)
c.357C>T (p.Pro119=)
c.366C>T (p.Pro122=)
 ClinVar
1g.21564091A=CA1158014455ALPLc.523A= (p.Ser175=)
n.583A=
c.292A= (p.Ser98=)
c.358A= (p.Ser120=)
c.367A= (p.Ser123=)
1g.21564091A>CCA338877867ALPLc.523A>C (p.Ser175Arg)
n.583A>C
c.292A>C (p.Ser98Arg)
c.358A>C (p.Ser120Arg)
c.367A>C (p.Ser123Arg)
 dbSNP gnomAD v4
1g.21564091A>GCA338877869ALPLc.523A>G (p.Ser175Gly)
n.583A>G
c.292A>G (p.Ser98Gly)
c.358A>G (p.Ser120Gly)
c.367A>G (p.Ser123Gly)
 gnomAD v4
1g.21564091A>TCA338877871ALPLc.523A>T (p.Ser175Cys)
n.583A>T
c.292A>T (p.Ser98Cys)
c.358A>T (p.Ser120Cys)
c.367A>T (p.Ser123Cys)
1g.21564092G>ACA338877874ALPLc.524G>A (p.Ser175Asn)
n.584G>A
c.293G>A (p.Ser98Asn)
c.359G>A (p.Ser120Asn)
c.368G>A (p.Ser123Asn)
1g.21564092G>CCA338877876ALPLc.524G>C (p.Ser175Thr)
n.584G>C
c.293G>C (p.Ser98Thr)
c.359G>C (p.Ser120Thr)
c.368G>C (p.Ser123Thr)
1g.21564092G>TCA338877877ALPLc.524G>T (p.Ser175Ile)
n.584G>T
c.293G>T (p.Ser98Ile)
c.359G>T (p.Ser120Ile)
c.368G>T (p.Ser123Ile)
1g.21564093C>ACA338877880ALPLc.525C>A (p.Ser175Arg)
n.585C>A
c.294C>A (p.Ser98Arg)
c.360C>A (p.Ser120Arg)
c.369C>A (p.Ser123Arg)
1g.21564093C=CA1158014456ALPLc.525C= (p.Ser175=)
n.585C=
c.294C= (p.Ser98=)
c.360C= (p.Ser120=)
c.369C= (p.Ser123=)
1g.21564093C>GCA338877883ALPLc.525C>G (p.Ser175Arg)
n.585C>G
c.294C>G (p.Ser98Arg)
c.360C>G (p.Ser120Arg)
c.369C>G (p.Ser123Arg)
1g.21564093C>TCA19060205ALPLc.525C>T (p.Ser175=)
n.585C>T
c.294C>T (p.Ser98=)
c.360C>T (p.Ser120=)
c.369C>T (p.Ser123=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21564094G>ACA256935ALPLc.526G>A (p.Ala176Thr)
n.586G>A
c.295G>A (p.Ala99Thr)
c.361G>A (p.Ala121Thr)
c.370G>A (p.Ala124Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21564094G>CCA338877888ALPLc.526G>C (p.Ala176Pro)
n.586G>C
c.295G>C (p.Ala99Pro)
c.361G>C (p.Ala121Pro)
c.370G>C (p.Ala124Pro)
 dbSNP
1g.21564094G=CA1141580637ALPLc.526G= (p.Ala176=)
n.586G=
c.295G= (p.Ala99=)
c.361G= (p.Ala121=)
c.370G= (p.Ala124=)
1g.21564094G>TCA338877886ALPLc.526G>T (p.Ala176Ser)
n.586G>T
c.295G>T (p.Ala99Ser)
c.361G>T (p.Ala121Ser)
c.370G>T (p.Ala124Ser)
1g.21564095C>ACA338877891ALPLc.527C>A (p.Ala176Asp)
n.587C>A
c.296C>A (p.Ala99Asp)
c.362C>A (p.Ala121Asp)
c.371C>A (p.Ala124Asp)
1g.21564095C>GCA338877893ALPLc.527C>G (p.Ala176Gly)
n.587C>G
c.296C>G (p.Ala99Gly)
c.362C>G (p.Ala121Gly)
c.371C>G (p.Ala124Gly)
1g.21564095C>TCA338877895ALPLc.527C>T (p.Ala176Val)
n.587C>T
c.296C>T (p.Ala99Val)
c.362C>T (p.Ala121Val)
c.371C>T (p.Ala124Val)
 ClinVar
1g.21564096C>ACA416527766ALPLc.528C>A (p.Ala176=)
n.588C>A
c.297C>A (p.Ala99=)
c.363C>A (p.Ala121=)
c.372C>A (p.Ala124=)
1g.21564096C=CA1158014457ALPLc.528C= (p.Ala176=)
n.588C=
c.297C= (p.Ala99=)
c.363C= (p.Ala121=)
c.372C= (p.Ala124=)
1g.21564096C>GCA416527769ALPLc.528C>G (p.Ala176=)
n.588C>G
c.297C>G (p.Ala99=)
c.363C>G (p.Ala121=)
c.372C>G (p.Ala124=)
1g.21564096C>TCA666520ALPLc.528C>T (p.Ala176=)
n.588C>T
c.297C>T (p.Ala99=)
c.363C>T (p.Ala121=)
c.372C>T (p.Ala124=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21564097G>ACA666521ALPLc.529G>A (p.Ala177Thr)
n.589G>A
c.298G>A (p.Ala100Thr)
c.364G>A (p.Ala122Thr)
c.373G>A (p.Ala125Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21564097G>CCA338877900ALPLc.529G>C (p.Ala177Pro)
n.589G>C
c.298G>C (p.Ala100Pro)
c.364G>C (p.Ala122Pro)
c.373G>C (p.Ala125Pro)
1g.21564097G=CA1143366459ALPLc.529G= (p.Ala177=)
n.589G=
c.298G= (p.Ala100=)
c.364G= (p.Ala122=)
c.373G= (p.Ala125=)
1g.21564097G>TCA338877902ALPLc.529G>T (p.Ala177Ser)
n.589G>T
c.298G>T (p.Ala100Ser)
c.364G>T (p.Ala122Ser)
c.373G>T (p.Ala125Ser)
 ClinVar gnomAD v4 COSMIC
1g.21564098C>ACA338877905ALPLc.530C>A (p.Ala177Asp)
n.590C>A
c.299C>A (p.Ala100Asp)
c.365C>A (p.Ala122Asp)
c.374C>A (p.Ala125Asp)
1g.21564098C=CA1158014458ALPLc.530C= (p.Ala177=)
n.590C=
c.299C= (p.Ala100=)
c.365C= (p.Ala122=)
c.374C= (p.Ala125=)
1g.21564098C>GCA338877906ALPLc.530C>G (p.Ala177Gly)
n.590C>G
c.299C>G (p.Ala100Gly)
c.365C>G (p.Ala122Gly)
c.374C>G (p.Ala125Gly)
1g.21564098C>TCA338877907ALPLc.530C>T (p.Ala177Val)
n.590C>T
c.299C>T (p.Ala100Val)
c.365C>T (p.Ala122Val)
c.374C>T (p.Ala125Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.21564099C>ACA416527787ALPLc.531C>A (p.Ala177=)
n.591C>A
c.300C>A (p.Ala100=)
c.366C>A (p.Ala122=)
c.375C>A (p.Ala125=)
1g.21564099C=CA1148411941ALPLc.531C= (p.Ala177=)
n.591C=
c.300C= (p.Ala100=)
c.366C= (p.Ala122=)
c.375C= (p.Ala125=)
1g.21564099C>GCA666522ALPLc.531C>G (p.Ala177=)
n.591C>G
c.300C>G (p.Ala100=)
c.366C>G (p.Ala122=)
c.375C>G (p.Ala125=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21564099C>TCA416527789ALPLc.531C>T (p.Ala177=)
n.591C>T
c.300C>T (p.Ala100=)
c.366C>T (p.Ala122=)
c.375C>T (p.Ala125=)
1g.21564100T>ACA338877916ALPLc.532T>A (p.Tyr178Asn)
n.592T>A
c.301T>A (p.Tyr101Asn)
c.367T>A (p.Tyr123Asn)
c.376T>A (p.Tyr126Asn)
1g.21564100T>CCA338877913ALPLc.532T>C (p.Tyr178His)
n.592T>C
c.301T>C (p.Tyr101His)
c.367T>C (p.Tyr123His)
c.376T>C (p.Tyr126His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21564100T>GCA338877911ALPLc.532T>G (p.Tyr178Asp)
n.592T>G
c.301T>G (p.Tyr101Asp)
c.367T>G (p.Tyr123Asp)
c.376T>G (p.Tyr126Asp)
1g.21564100T=CA1158014459ALPLc.532T= (p.Tyr178=)
n.592T=
c.301T= (p.Tyr101=)
c.367T= (p.Tyr123=)
c.376T= (p.Tyr126=)
1g.21564101A>CCA338877918ALPLc.533A>C (p.Tyr178Ser)
n.593A>C
c.302A>C (p.Tyr101Ser)
c.368A>C (p.Tyr123Ser)
c.377A>C (p.Tyr126Ser)
1g.21564101A>GCA338877920ALPLc.533A>G (p.Tyr178Cys)
n.593A>G
c.302A>G (p.Tyr101Cys)
c.368A>G (p.Tyr123Cys)
c.377A>G (p.Tyr126Cys)
1g.21564101A>TCA338877921ALPLc.533A>T (p.Tyr178Phe)
n.593A>T
c.302A>T (p.Tyr101Phe)
c.368A>T (p.Tyr123Phe)
c.377A>T (p.Tyr126Phe)
1g.21564102C>ACA338877924ALPLc.534C>A (p.Tyr178Ter)
n.594C>A
c.303C>A (p.Tyr101Ter)
c.369C>A (p.Tyr123Ter)
c.378C>A (p.Tyr126Ter)
 ClinVar dbSNP
1g.21564102C=CA1143469607ALPLc.534C= (p.Tyr178=)
n.594C=
c.303C= (p.Tyr101=)
c.369C= (p.Tyr123=)
c.378C= (p.Tyr126=)
1g.21564102C>GCA666524ALPLc.534C>G (p.Tyr178Ter)
n.594C>G
c.303C>G (p.Tyr101Ter)
c.369C>G (p.Tyr123Ter)
c.378C>G (p.Tyr126Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21564102C>TCA666523ALPLc.534C>T (p.Tyr178=)
n.594C>T
c.303C>T (p.Tyr101=)
c.369C>T (p.Tyr123=)
c.378C>T (p.Tyr126=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21564103G>ACA256919ALPLc.535G>A (p.Ala179Thr)
n.595G>A
c.304G>A (p.Ala102Thr)
c.370G>A (p.Ala124Thr)
c.379G>A (p.Ala127Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.21564103G>CCA338877927ALPLc.535G>C (p.Ala179Pro)
n.595G>C
c.304G>C (p.Ala102Pro)
c.370G>C (p.Ala124Pro)
c.379G>C (p.Ala127Pro)
1g.21564103G=CA1141580638ALPLc.535G= (p.Ala179=)
n.595G=
c.304G= (p.Ala102=)
c.370G= (p.Ala124=)
c.379G= (p.Ala127=)
1g.21564103G>TCA338877928ALPLc.535G>T (p.Ala179Ser)
n.595G>T
c.304G>T (p.Ala102Ser)
c.370G>T (p.Ala124Ser)
c.379G>T (p.Ala127Ser)
 dbSNP gnomAD v4
1g.21564104C>ACA338877930ALPLc.536C>A (p.Ala179Asp)
n.596C>A
c.305C>A (p.Ala102Asp)
c.371C>A (p.Ala124Asp)
c.380C>A (p.Ala127Asp)
1g.21564104C=CA1148868669ALPLc.536C= (p.Ala179=)
n.596C=
c.305C= (p.Ala102=)
c.371C= (p.Ala124=)
c.380C= (p.Ala127=)
1g.21564104C>GCA338877932ALPLc.536C>G (p.Ala179Gly)
n.596C>G
c.305C>G (p.Ala102Gly)
c.371C>G (p.Ala124Gly)
c.380C>G (p.Ala127Gly)
 gnomAD v4
1g.21564104C>TCA666525ALPLc.536C>T (p.Ala179Val)
n.596C>T
c.305C>T (p.Ala102Val)
c.371C>T (p.Ala124Val)
c.380C>T (p.Ala127Val)
 ClinVar dbSNP ExAC gnomAD v2
1g.21564105C>ACA416527811ALPLc.537C>A (p.Ala179=)
n.597C>A
c.306C>A (p.Ala102=)
c.372C>A (p.Ala124=)
c.381C>A (p.Ala127=)
1g.21564105C>GCA416527809ALPLc.537C>G (p.Ala179=)
n.597C>G
c.306C>G (p.Ala102=)
c.372C>G (p.Ala124=)
c.381C>G (p.Ala127=)
1g.21564105C>TCA416527807ALPLc.537C>T (p.Ala179=)
n.597C>T
c.306C>T (p.Ala102=)
c.372C>T (p.Ala124=)
c.381C>T (p.Ala127=)
1g.21564106C>ACA338877939ALPLc.538C>A (p.His180Asn)
n.598C>A
c.307C>A (p.His103Asn)
c.373C>A (p.His125Asn)
c.382C>A (p.His128Asn)
 ClinVar dbSNP gnomAD v4
1g.21564106C>GCA338877937ALPLc.538C>G (p.His180Asp)
n.598C>G
c.307C>G (p.His103Asp)
c.373C>G (p.His125Asp)
c.382C>G (p.His128Asp)
1g.21564106C>TCA338877936ALPLc.538C>T (p.His180Tyr)
n.598C>T
c.307C>T (p.His103Tyr)
c.373C>T (p.His125Tyr)
c.382C>T (p.His128Tyr)
1g.21564107A>CCA338877941ALPLc.539A>C (p.His180Pro)
n.599A>C
c.308A>C (p.His103Pro)
c.374A>C (p.His125Pro)
c.383A>C (p.His128Pro)
1g.21564107A>GCA338877943ALPLc.539A>G (p.His180Arg)
n.599A>G
c.308A>G (p.His103Arg)
c.374A>G (p.His125Arg)
c.383A>G (p.His128Arg)
 ClinVar
1g.21564107A>TCA338877945ALPLc.539A>T (p.His180Leu)
n.599A>T
c.308A>T (p.His103Leu)
c.374A>T (p.His125Leu)
c.383A>T (p.His128Leu)
1g.21564108C>ACA338877947ALPLc.540C>A (p.His180Gln)
n.600C>A
c.309C>A (p.His103Gln)
c.375C>A (p.His125Gln)
c.384C>A (p.His128Gln)
1g.21564108C=CA1158014460ALPLc.540C= (p.His180=)
n.600C=
c.309C= (p.His103=)
c.375C= (p.His125=)
c.384C= (p.His128=)
1g.21564108C>GCA338877949ALPLc.540C>G (p.His180Gln)
n.600C>G
c.309C>G (p.His103Gln)
c.375C>G (p.His125Gln)
c.384C>G (p.His128Gln)
1g.21564108C>TCA666526ALPLc.540C>T (p.His180=)
n.600C>T
c.309C>T (p.His103=)
c.375C>T (p.His125=)
c.384C>T (p.His128=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21564109T>ACA338877952ALPLc.541T>A (p.Ser181Thr)
n.601T>A
c.310T>A (p.Ser104Thr)
c.376T>A (p.Ser126Thr)
c.385T>A (p.Ser129Thr)
1g.21564109T>CCA338877954ALPLc.541T>C (p.Ser181Pro)
n.601T>C
c.310T>C (p.Ser104Pro)
c.376T>C (p.Ser126Pro)
c.385T>C (p.Ser129Pro)
 gnomAD v4
1g.21564109T>GCA338877956ALPLc.541T>G (p.Ser181Ala)
n.601T>G
c.310T>G (p.Ser104Ala)
c.376T>G (p.Ser126Ala)
c.385T>G (p.Ser129Ala)
1g.21564110C>ACA338877959ALPLc.542C>A (p.Ser181Ter)
n.602C>A
c.311C>A (p.Ser104Ter)
c.377C>A (p.Ser126Ter)
c.386C>A (p.Ser129Ter)
1g.21564110C=CA1143361749ALPLc.542C= (p.Ser181=)
n.602C=
c.311C= (p.Ser104=)
c.377C= (p.Ser126=)
c.386C= (p.Ser129=)
1g.21564110C>GCA338877960ALPLc.542C>G (p.Ser181Trp)
n.602C>G
c.311C>G (p.Ser104Trp)
c.377C>G (p.Ser126Trp)
c.386C>G (p.Ser129Trp)
 ClinVar dbSNP
1g.21564110C>TCA273974ALPLc.542C>T (p.Ser181Leu)
n.602C>T
c.311C>T (p.Ser104Leu)
c.377C>T (p.Ser126Leu)
c.386C>T (p.Ser129Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21564111G>ACA19060269ALPLc.543G>A (p.Ser181=)
n.603G>A
c.312G>A (p.Ser104=)
c.378G>A (p.Ser126=)
c.387G>A (p.Ser129=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.21564111G>CCA416527857ALPLc.543G>C (p.Ser181=)
n.603G>C
c.312G>C (p.Ser104=)
c.378G>C (p.Ser126=)
c.387G>C (p.Ser129=)
1g.21564111G=CA1158014461ALPLc.543G= (p.Ser181=)
n.603G=
c.312G= (p.Ser104=)
c.378G= (p.Ser126=)
c.387G= (p.Ser129=)
1g.21564111G>TCA416527854ALPLc.543G>T (p.Ser181=)
n.603G>T
c.312G>T (p.Ser104=)
c.378G>T (p.Ser126=)
c.387G>T (p.Ser129=)
1g.21564112delCA2586964026ALPLc.544del (p.Ala182LeufsTer16)
n.604del
c.313del (p.Ala105LeufsTer16)
c.379del (p.Ala127LeufsTer16)
c.388del (p.Ala130LeufsTer16)
1g.21564112G>ACA338877967ALPLc.544G>A (p.Ala182Thr)
n.604G>A
c.313G>A (p.Ala105Thr)
c.379G>A (p.Ala127Thr)
c.388G>A (p.Ala130Thr)
 gnomAD v4
1g.21564112G>CCA338877965ALPLc.544G>C (p.Ala182Pro)
n.604G>C
c.313G>C (p.Ala105Pro)
c.379G>C (p.Ala127Pro)
c.388G>C (p.Ala130Pro)
1g.21564112G>TCA338877964ALPLc.544G>T (p.Ala182Ser)
n.604G>T
c.313G>T (p.Ala105Ser)
c.379G>T (p.Ala127Ser)
c.388G>T (p.Ala130Ser)
1g.21564113C>ACA338877970ALPLc.545C>A (p.Ala182Asp)
n.605C>A
c.314C>A (p.Ala105Asp)
c.380C>A (p.Ala127Asp)
c.389C>A (p.Ala130Asp)
1g.21564113C=CA1158014462ALPLc.545C= (p.Ala182=)
n.605C=
c.314C= (p.Ala105=)
c.380C= (p.Ala127=)
c.389C= (p.Ala130=)
1g.21564113C>GCA338877971ALPLc.545C>G (p.Ala182Gly)
n.605C>G
c.314C>G (p.Ala105Gly)
c.380C>G (p.Ala127Gly)
c.389C>G (p.Ala130Gly)
1g.21564113C>TCA338877973ALPLc.545C>T (p.Ala182Val)
n.605C>T
c.314C>T (p.Ala105Val)
c.380C>T (p.Ala127Val)
c.389C>T (p.Ala130Val)
 dbSNP gnomAD v3 gnomAD v4
1g.21564114T>ACA416527871ALPLc.546T>A (p.Ala182=)
n.606T>A
c.315T>A (p.Ala105=)
c.381T>A (p.Ala127=)
c.390T>A (p.Ala130=)
 dbSNP
1g.21564114T>CCA416527874ALPLc.546T>C (p.Ala182=)
n.606T>C
c.315T>C (p.Ala105=)
c.381T>C (p.Ala127=)
c.390T>C (p.Ala130=)
1g.21564114T>GCA416527876ALPLc.546T>G (p.Ala182=)
n.606T>G
c.315T>G (p.Ala105=)
c.381T>G (p.Ala127=)
c.390T>G (p.Ala130=)
1g.21564114T=CA1158014463ALPLc.546T= (p.Ala182=)
n.606T=
c.315T= (p.Ala105=)
c.381T= (p.Ala127=)
c.390T= (p.Ala130=)
1g.21564115G>ACA338877976ALPLc.547G>A (p.Asp183Asn)
n.607G>A
c.316G>A (p.Asp106Asn)
c.382G>A (p.Asp128Asn)
c.391G>A (p.Asp131Asn)
 ClinVar dbSNP gnomAD v4
1g.21564115G>CCA338877978ALPLc.547G>C (p.Asp183His)
n.607G>C
c.316G>C (p.Asp106His)
c.382G>C (p.Asp128His)
c.391G>C (p.Asp131His)
 gnomAD v4
1g.21564115G=CA1158014464ALPLc.547G= (p.Asp183=)
n.607G=
c.316G= (p.Asp106=)
c.382G= (p.Asp128=)
c.391G= (p.Asp131=)
1g.21564115G>TCA338877980ALPLc.547G>T (p.Asp183Tyr)
n.607G>T
c.316G>T (p.Asp106Tyr)
c.382G>T (p.Asp128Tyr)
c.391G>T (p.Asp131Tyr)
1g.21564116A>CCA338877982ALPLc.548A>C (p.Asp183Ala)
n.608A>C
c.317A>C (p.Asp106Ala)
c.383A>C (p.Asp128Ala)
c.392A>C (p.Asp131Ala)
1g.21564116A>GCA338877984ALPLc.548A>G (p.Asp183Gly)
n.608A>G
c.317A>G (p.Asp106Gly)
c.383A>G (p.Asp128Gly)
c.392A>G (p.Asp131Gly)
1g.21564116A>TCA338877985ALPLc.548A>T (p.Asp183Val)
n.608A>T
c.317A>T (p.Asp106Val)
c.383A>T (p.Asp128Val)
c.392A>T (p.Asp131Val)
1g.21564117C>ACA338877987ALPLc.549C>A (p.Asp183Glu)
n.609C>A
c.318C>A (p.Asp106Glu)
c.384C>A (p.Asp128Glu)
c.393C>A (p.Asp131Glu)
1g.21564117C=CA1158014465ALPLc.549C= (p.Asp183=)
n.609C=
c.318C= (p.Asp106=)
c.384C= (p.Asp128=)
c.393C= (p.Asp131=)
1g.21564117C>GCA338877989ALPLc.549C>G (p.Asp183Glu)
n.609C>G
c.318C>G (p.Asp106Glu)
c.384C>G (p.Asp128Glu)
c.393C>G (p.Asp131Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21564117C>TCA416527892ALPLc.549C>T (p.Asp183=)
n.609C>T
c.318C>T (p.Asp106=)
c.384C>T (p.Asp128=)
c.393C>T (p.Asp131=)
1g.21564118C>ACA416527897ALPLc.550C>A (p.Arg184=)
n.610C>A
c.319C>A (p.Arg107=)
c.385C>A (p.Arg129=)
c.394C>A (p.Arg132=)
 ClinVar dbSNP
1g.21564118C=CA1158014466ALPLc.550C= (p.Arg184=)
n.610C=
c.319C= (p.Arg107=)
c.385C= (p.Arg129=)
c.394C= (p.Arg132=)
1g.21564118C>GCA338877991ALPLc.550C>G (p.Arg184Gly)
n.610C>G
c.319C>G (p.Arg107Gly)
c.385C>G (p.Arg129Gly)
c.394C>G (p.Arg132Gly)
 ClinVar gnomAD v4
1g.21564118C>TCA666527ALPLc.550C>T (p.Arg184Trp)
n.610C>T
c.319C>T (p.Arg107Trp)
c.385C>T (p.Arg129Trp)
c.394C>T (p.Arg132Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21564119G>ACA338877996ALPLc.551G>A (p.Arg184Gln)
n.611G>A
c.320G>A (p.Arg107Gln)
c.386G>A (p.Arg129Gln)
c.395G>A (p.Arg132Gln)
 ClinVar dbSNP gnomAD v4
1g.21564119G>CCA338877998ALPLc.551G>C (p.Arg184Pro)
n.611G>C
c.320G>C (p.Arg107Pro)
c.386G>C (p.Arg129Pro)
c.395G>C (p.Arg132Pro)
1g.21564119G=CA1158014467ALPLc.551G= (p.Arg184=)
n.611G=
c.320G= (p.Arg107=)
c.386G= (p.Arg129=)
c.395G= (p.Arg132=)
1g.21564119G>TCA338877994ALPLc.551G>T (p.Arg184Leu)
n.611G>T
c.320G>T (p.Arg107Leu)
c.386G>T (p.Arg129Leu)
c.395G>T (p.Arg132Leu)
1g.21564121delCA2643930481ALPLc.553del (p.Asp185ThrfsTer13)
n.613del
c.322del (p.Asp108ThrfsTer13)
c.388del (p.Asp130ThrfsTer13)
c.397del (p.Asp133ThrfsTer13)
 gnomAD v4
1g.21564120G>ACA416527910ALPLc.552G>A (p.Arg184=)
n.612G>A
c.321G>A (p.Arg107=)
c.387G>A (p.Arg129=)
c.396G>A (p.Arg132=)
1g.21564120G>CCA416527909ALPLc.552G>C (p.Arg184=)
n.612G>C
c.321G>C (p.Arg107=)
c.387G>C (p.Arg129=)
c.396G>C (p.Arg132=)
1g.21564120G>TCA416527913ALPLc.552G>T (p.Arg184=)
n.612G>T
c.321G>T (p.Arg107=)
c.387G>T (p.Arg129=)
c.396G>T (p.Arg132=)
 gnomAD v4
1g.21564121G>ACA338878000ALPLc.553G>A (p.Asp185Asn)
n.613G>A
c.322G>A (p.Asp108Asn)
c.388G>A (p.Asp130Asn)
c.397G>A (p.Asp133Asn)
 gnomAD v4
1g.21564121G>CCA19060283ALPLc.553G>C (p.Asp185His)
n.613G>C
c.322G>C (p.Asp108His)
c.388G>C (p.Asp130His)
c.397G>C (p.Asp133His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21564121G=CA1158014468ALPLc.553G= (p.Asp185=)
n.613G=
c.322G= (p.Asp108=)
c.388G= (p.Asp130=)
c.397G= (p.Asp133=)
1g.21564121G>TCA338878002ALPLc.553G>T (p.Asp185Tyr)
n.613G>T
c.322G>T (p.Asp108Tyr)
c.388G>T (p.Asp130Tyr)
c.397G>T (p.Asp133Tyr)
 COSMIC
1g.21564122A>CCA338878006ALPLc.554A>C (p.Asp185Ala)
n.614A>C
c.323A>C (p.Asp108Ala)
c.389A>C (p.Asp130Ala)
c.398A>C (p.Asp133Ala)
1g.21564122A>GCA338878009ALPLc.554A>G (p.Asp185Gly)
n.614A>G
c.323A>G (p.Asp108Gly)
c.389A>G (p.Asp130Gly)
c.398A>G (p.Asp133Gly)
1g.21564122A>TCA338878007ALPLc.554A>T (p.Asp185Val)
n.614A>T
c.323A>T (p.Asp108Val)
c.389A>T (p.Asp130Val)
c.398A>T (p.Asp133Val)
1g.21564123C>ACA338878011ALPLc.555C>A (p.Asp185Glu)
n.615C>A
c.324C>A (p.Asp108Glu)
c.390C>A (p.Asp130Glu)
c.399C>A (p.Asp133Glu)
1g.21564123C=CA1158014469ALPLc.555C= (p.Asp185=)
n.615C=
c.324C= (p.Asp108=)
c.390C= (p.Asp130=)
c.399C= (p.Asp133=)
1g.21564123C>GCA338878013ALPLc.555C>G (p.Asp185Glu)
n.615C>G
c.324C>G (p.Asp108Glu)
c.390C>G (p.Asp130Glu)
c.399C>G (p.Asp133Glu)
1g.21564123C>TCA416527929ALPLc.555C>T (p.Asp185=)
n.615C>T
c.324C>T (p.Asp108=)
c.390C>T (p.Asp130=)
c.399C>T (p.Asp133=)
 ClinVar dbSNP
1g.21564124T>ACA338878015ALPLc.556T>A (p.Trp186Arg)
n.616T>A
c.325T>A (p.Trp109Arg)
c.391T>A (p.Trp131Arg)
c.400T>A (p.Trp134Arg)
1g.21564124T>CCA338878017ALPLc.556T>C (p.Trp186Arg)
n.616T>C
c.325T>C (p.Trp109Arg)
c.391T>C (p.Trp131Arg)
c.400T>C (p.Trp134Arg)
1g.21564124T>GCA338878018ALPLc.556T>G (p.Trp186Gly)
n.616T>G
c.325T>G (p.Trp109Gly)
c.391T>G (p.Trp131Gly)
c.400T>G (p.Trp134Gly)
1g.21564125G>ACA338878021ALPLc.557G>A (p.Trp186Ter)
n.617G>A
c.326G>A (p.Trp109Ter)
c.392G>A (p.Trp131Ter)
c.401G>A (p.Trp134Ter)
1g.21564125G>CCA338878023ALPLc.557G>C (p.Trp186Ser)
n.617G>C
c.326G>C (p.Trp109Ser)
c.392G>C (p.Trp131Ser)
c.401G>C (p.Trp134Ser)
1g.21564125G>TCA338878025ALPLc.557G>T (p.Trp186Leu)
n.617G>T
c.326G>T (p.Trp109Leu)
c.392G>T (p.Trp131Leu)
c.401G>T (p.Trp134Leu)
1g.21564126G>ACA338878030ALPLc.558G>A (p.Trp186Ter)
n.618G>A
c.327G>A (p.Trp109Ter)
c.393G>A (p.Trp131Ter)
c.402G>A (p.Trp134Ter)
 ClinVar dbSNP gnomAD v4
1g.21564126G>CCA338878033ALPLc.558G>C (p.Trp186Cys)
n.618G>C
c.327G>C (p.Trp109Cys)
c.393G>C (p.Trp131Cys)
c.402G>C (p.Trp134Cys)
1g.21564126G>TCA338878035ALPLc.558G>T (p.Trp186Cys)
n.618G>T
c.327G>T (p.Trp109Cys)
c.393G>T (p.Trp131Cys)
c.402G>T (p.Trp134Cys)
1g.21564127T>ACA338878037ALPLc.559T>A (p.Tyr187Asn)
n.619T>A
c.328T>A (p.Tyr110Asn)
c.394T>A (p.Tyr132Asn)
c.403T>A (p.Tyr135Asn)
1g.21564127T>CCA338878039ALPLc.559T>C (p.Tyr187His)
n.619T>C
c.328T>C (p.Tyr110His)
c.394T>C (p.Tyr132His)
c.403T>C (p.Tyr135His)
1g.21564127T>GCA338878040ALPLc.559T>G (p.Tyr187Asp)
n.619T>G
c.328T>G (p.Tyr110Asp)
c.394T>G (p.Tyr132Asp)
c.403T>G (p.Tyr135Asp)
1g.21564128A>CCA338878046ALPLc.560A>C (p.Tyr187Ser)
n.620A>C
c.329A>C (p.Tyr110Ser)
c.395A>C (p.Tyr132Ser)
c.404A>C (p.Tyr135Ser)
1g.21564128A>GCA338878044ALPLc.560A>G (p.Tyr187Cys)
n.620A>G
c.329A>G (p.Tyr110Cys)
c.395A>G (p.Tyr132Cys)
c.404A>G (p.Tyr135Cys)
1g.21564128A>TCA338878042ALPLc.560A>T (p.Tyr187Phe)
n.620A>T
c.329A>T (p.Tyr110Phe)
c.395A>T (p.Tyr132Phe)
c.404A>T (p.Tyr135Phe)
 gnomAD v4
1g.21564129C>ACA338878048ALPLc.561C>A (p.Tyr187Ter)
n.621C>A
c.330C>A (p.Tyr110Ter)
c.396C>A (p.Tyr132Ter)
c.405C>A (p.Tyr135Ter)
 ClinVar dbSNP
1g.21564129C=CA1158014470ALPLc.561C= (p.Tyr187=)
n.621C=
c.330C= (p.Tyr110=)
c.396C= (p.Tyr132=)
c.405C= (p.Tyr135=)
1g.21564129C>GCA338878050ALPLc.561C>G (p.Tyr187Ter)
n.621C>G
c.330C>G (p.Tyr110Ter)
c.396C>G (p.Tyr132Ter)
c.405C>G (p.Tyr135Ter)
1g.21564129C>TCA666528ALPLc.561C>T (p.Tyr187=)
n.621C>T
c.330C>T (p.Tyr110=)
c.396C>T (p.Tyr132=)
c.405C>T (p.Tyr135=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21564129_21564130insGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATACA666529ALPLc.561_562insGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATA (p.Ser188ValfsTer6)
n.621_622insGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATA
c.330_331insGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATA (p.Ser111ValfsTer6)
c.396_397insGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATA (p.Ser133ValfsTer6)
c.405_406insGTCATGGGAAGGGGCTAGAAAAGGCTTCTCTGTGGGGCTCCCAGCTCTGATATGCTGGGAGTCTGTAATA (p.Ser136ValfsTer6)
 ExAC
1g.21564130T>ACA338878051ALPLc.562T>A (p.Ser188Thr)
n.622T>A
c.331T>A (p.Ser111Thr)
c.397T>A (p.Ser133Thr)
c.406T>A (p.Ser136Thr)
1g.21564130T>CCA338878052ALPLc.562T>C (p.Ser188Pro)
n.622T>C
c.331T>C (p.Ser111Pro)
c.397T>C (p.Ser133Pro)
c.406T>C (p.Ser136Pro)
1g.21564130T>GCA338878054ALPLc.562T>G (p.Ser188Ala)
n.622T>G
c.331T>G (p.Ser111Ala)
c.397T>G (p.Ser133Ala)
c.406T>G (p.Ser136Ala)
1g.21564131C>ACA338878056ALPLc.563C>A (p.Ser188Ter)
n.623C>A
c.332C>A (p.Ser111Ter)
c.398C>A (p.Ser133Ter)
c.407C>A (p.Ser136Ter)
1g.21564131C>GCA338878057ALPLc.563C>G (p.Ser188Ter)
n.623C>G
c.332C>G (p.Ser111Ter)
c.398C>G (p.Ser133Ter)
c.407C>G (p.Ser136Ter)
1g.21564131C>TCA338878059ALPLc.563C>T (p.Ser188Leu)
n.623C>T
c.332C>T (p.Ser111Leu)
c.398C>T (p.Ser133Leu)
c.407C>T (p.Ser136Leu)
1g.21564132A=CA1158014471ALPLc.564A= (p.Ser188=)
n.624A=
c.333A= (p.Ser111=)
c.399A= (p.Ser133=)
c.408A= (p.Ser136=)
1g.21564132A>CCA416527985ALPLc.564A>C (p.Ser188=)
n.624A>C
c.333A>C (p.Ser111=)
c.399A>C (p.Ser133=)
c.408A>C (p.Ser136=)
1g.21564132A>GCA416527980ALPLc.564A>G (p.Ser188=)
n.624A>G
c.333A>G (p.Ser111=)
c.399A>G (p.Ser133=)
c.408A>G (p.Ser136=)
 gnomAD v4
1g.21564132A>TCA666530ALPLc.564A>T (p.Ser188=)
n.624A>T
c.333A>T (p.Ser111=)
c.399A>T (p.Ser133=)
c.408A>T (p.Ser136=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21564133G>ACA338878062ALPLc.565G>A (p.Asp189Asn)
n.625G>A
c.334G>A (p.Asp112Asn)
c.400G>A (p.Asp134Asn)
c.409G>A (p.Asp137Asn)
 ClinVar gnomAD v4
1g.21564133G>CCA338878063ALPLc.565G>C (p.Asp189His)
n.625G>C
c.334G>C (p.Asp112His)
c.400G>C (p.Asp134His)
c.409G>C (p.Asp137His)
1g.21564133G>TCA338878065ALPLc.565G>T (p.Asp189Tyr)
n.625G>T
c.334G>T (p.Asp112Tyr)
c.400G>T (p.Asp134Tyr)
c.409G>T (p.Asp137Tyr)
1g.21564133_21564136delinsGACACA1158014472ALPLc.565_568delinsGACA (p.Asp189=)
n.625_628delinsGACA
c.334_337delinsGACA (p.Asp112=)
c.400_403delinsGACA (p.Asp134=)
c.409_412delinsGACA (p.Asp137=)
1g.21564133_21564139delCA2643930482ALPLc.565_571del (p.Asp189ArgfsTer7)
n.625_631del
c.334_340del (p.Asp112ArgfsTer7)
c.400_406del (p.Asp134ArgfsTer7)
c.409_415del (p.Asp137ArgfsTer7)
 gnomAD v4
1g.21564133_21564143delinsAGCA2586964027ALPLc.565_575delinsAG (p.Asp189_Met192delinsArg)
n.625_635delinsAG
c.334_344delinsAG (p.Asp112_Met115delinsArg)
c.400_410delinsAG (p.Asp134_Met137delinsArg)
c.409_419delinsAG (p.Asp137_Met140delinsArg)
1g.21564134A>CCA338878069ALPLc.566A>C (p.Asp189Ala)
n.626A>C
c.335A>C (p.Asp112Ala)
c.401A>C (p.Asp134Ala)
c.410A>C (p.Asp137Ala)
1g.21564134A>GCA338878071ALPLc.566A>G (p.Asp189Gly)
n.626A>G
c.335A>G (p.Asp112Gly)
c.401A>G (p.Asp134Gly)
c.410A>G (p.Asp137Gly)
1g.21564134A>TCA338878067ALPLc.566A>T (p.Asp189Val)
n.626A>T
c.335A>T (p.Asp112Val)
c.401A>T (p.Asp134Val)
c.410A>T (p.Asp137Val)
1g.21564135_21564136delCA2580061463ALPLc.567_568del (p.Asp189GlufsTer6)
n.627_628del
c.336_337del (p.Asp112GlufsTer6)
c.402_403del (p.Asp134GlufsTer6)
c.411_412del (p.Asp137GlufsTer6)
 ClinVar
1g.21564136_21564138delCA1139655996ALPLc.568_570del (p.Asn190del)
n.628_630del
c.337_339del (p.Asn113del)
c.403_405del (p.Asn135del)
c.412_414del (p.Asn138del)
 ClinVar dbSNP gnomAD v4
1g.21564135C>ACA338878073ALPLc.567C>A (p.Asp189Glu)
n.627C>A
c.336C>A (p.Asp112Glu)
c.402C>A (p.Asp134Glu)
c.411C>A (p.Asp137Glu)
1g.21564135C=CA1158014473ALPLc.567C= (p.Asp189=)
n.627C=
c.336C= (p.Asp112=)
c.402C= (p.Asp134=)
c.411C= (p.Asp137=)
1g.21564135C>GCA338878075ALPLc.567C>G (p.Asp189Glu)
n.627C>G
c.336C>G (p.Asp112Glu)
c.402C>G (p.Asp134Glu)
c.411C>G (p.Asp137Glu)
1g.21564135C>TCA416528005ALPLc.567C>T (p.Asp189=)
n.627C>T
c.336C>T (p.Asp112=)
c.402C>T (p.Asp134=)
c.411C>T (p.Asp137=)
 dbSNP
1g.21564135_21564136insTCA1158014474ALPLc.567_568insT (p.Asn190Ter)
n.627_628insT
c.336_337insT (p.Asn113Ter)
c.402_403insT (p.Asn135Ter)
c.411_412insT (p.Asn138Ter)
 dbSNP
1g.21564136A>CCA338878078ALPLc.568A>C (p.Asn190His)
n.628A>C
c.337A>C (p.Asn113His)
c.403A>C (p.Asn135His)
c.412A>C (p.Asn138His)
1g.21564136A>GCA338878079ALPLc.568A>G (p.Asn190Asp)
n.628A>G
c.337A>G (p.Asn113Asp)
c.403A>G (p.Asn135Asp)
c.412A>G (p.Asn138Asp)
1g.21564136A>TCA338878082ALPLc.568A>T (p.Asn190Tyr)
n.628A>T
c.337A>T (p.Asn113Tyr)
c.403A>T (p.Asn135Tyr)
c.412A>T (p.Asn138Tyr)
1g.21564137A>CCA338878084ALPLc.569A>C (p.Asn190Thr)
n.629A>C
c.338A>C (p.Asn113Thr)
c.404A>C (p.Asn135Thr)
c.413A>C (p.Asn138Thr)
1g.21564137A>GCA338878086ALPLc.569A>G (p.Asn190Ser)
n.629A>G
c.338A>G (p.Asn113Ser)
c.404A>G (p.Asn135Ser)
c.413A>G (p.Asn138Ser)
1g.21564137A>TCA338878088ALPLc.569A>T (p.Asn190Ile)
n.629A>T
c.338A>T (p.Asn113Ile)
c.404A>T (p.Asn135Ile)
c.413A>T (p.Asn138Ile)
1g.21564138C>ACA338878090ALPLc.570C>A (p.Asn190Lys)
n.630C>A
c.339C>A (p.Asn113Lys)
c.405C>A (p.Asn135Lys)
c.414C>A (p.Asn138Lys)
1g.21564138C=CA1158014475ALPLc.570C= (p.Asn190=)
n.630C=
c.339C= (p.Asn113=)
c.405C= (p.Asn135=)
c.414C= (p.Asn138=)
1g.21564138C>GCA666532ALPLc.570C>G (p.Asn190Lys)
n.630C>G
c.339C>G (p.Asn113Lys)
c.405C>G (p.Asn135Lys)
c.414C>G (p.Asn138Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21564138C>TCA666531ALPLc.570C>T (p.Asn190=)
n.630C>T
c.339C>T (p.Asn113=)
c.405C>T (p.Asn135=)
c.414C>T (p.Asn138=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21564139G>ACA256927ALPLc.571G>A (p.Glu191Lys)
n.631G>A
c.340G>A (p.Glu114Lys)
c.406G>A (p.Glu136Lys)
c.415G>A (p.Glu139Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21564139G>CCA338878094ALPLc.571G>C (p.Glu191Gln)
n.631G>C
c.340G>C (p.Glu114Gln)
c.406G>C (p.Glu136Gln)
c.415G>C (p.Glu139Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21564139G=CA1141580639ALPLc.571G= (p.Glu191=)
n.631G=
c.340G= (p.Glu114=)
c.406G= (p.Glu136=)
c.415G= (p.Glu139=)
1g.21564139G>TCA338878096ALPLc.571G>T (p.Glu191Ter)
n.631G>T
c.340G>T (p.Glu114Ter)
c.406G>T (p.Glu136Ter)
c.415G>T (p.Glu139Ter)
 ClinVar dbSNP
1g.21564141_21564142delCA2695197986ALPLc.573_574del (p.Glu191AspfsTer4)
n.633_634del
c.342_343del (p.Glu114AspfsTer4)
c.408_409del (p.Glu136AspfsTer4)
c.417_418del (p.Glu139AspfsTer4)
 ClinVar
1g.21564140A=CA1158014476ALPLc.572A= (p.Glu191=)
n.632A=
c.341A= (p.Glu114=)
c.407A= (p.Glu136=)
c.416A= (p.Glu139=)
1g.21564140A>CCA338878099ALPLc.572A>C (p.Glu191Ala)
n.632A>C
c.341A>C (p.Glu114Ala)
c.407A>C (p.Glu136Ala)
c.416A>C (p.Glu139Ala)
1g.21564140A>GCA338878101ALPLc.572A>G (p.Glu191Gly)
n.632A>G
c.341A>G (p.Glu114Gly)
c.407A>G (p.Glu136Gly)
c.416A>G (p.Glu139Gly)
 ClinVar dbSNP gnomAD v4
1g.21564140A>TCA338878102ALPLc.572A>T (p.Glu191Val)
n.632A>T
c.341A>T (p.Glu114Val)
c.407A>T (p.Glu136Val)
c.416A>T (p.Glu139Val)
1g.21564141G>ACA416528044ALPLc.573G>A (p.Glu191=)
n.633G>A
c.342G>A (p.Glu114=)
c.408G>A (p.Glu136=)
c.417G>A (p.Glu139=)
 ClinVar
1g.21564141G>CCA338878104ALPLc.573G>C (p.Glu191Asp)
n.633G>C
c.342G>C (p.Glu114Asp)
c.408G>C (p.Glu136Asp)
c.417G>C (p.Glu139Asp)
1g.21564141G>TCA338878106ALPLc.573G>T (p.Glu191Asp)
n.633G>T
c.342G>T (p.Glu114Asp)
c.408G>T (p.Glu136Asp)
c.417G>T (p.Glu139Asp)
1g.21564142A=CA1158014477ALPLc.574A= (p.Met192=)
n.634A=
c.343A= (p.Met115=)
c.409A= (p.Met137=)
c.418A= (p.Met140=)
1g.21564142A>CCA338878108ALPLc.574A>C (p.Met192Leu)
n.634A>C
c.343A>C (p.Met115Leu)
c.409A>C (p.Met137Leu)
c.418A>C (p.Met140Leu)
1g.21564142A>GCA666533ALPLc.574A>G (p.Met192Val)
n.634A>G
c.343A>G (p.Met115Val)
c.409A>G (p.Met137Val)
c.418A>G (p.Met140Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21564142A>TCA338878112ALPLc.574A>T (p.Met192Leu)
n.634A>T
c.343A>T (p.Met115Leu)
c.409A>T (p.Met137Leu)
c.418A>T (p.Met140Leu)
1g.21564142_21564143delCA2643930483ALPLc.574_575del (p.Met192AlafsTer3)
n.634_635del
c.343_344del (p.Met115AlafsTer3)
c.409_410del (p.Met137AlafsTer3)
c.418_419del (p.Met140AlafsTer3)
 gnomAD v4
1g.21564143T>ACA338878114ALPLc.575T>A (p.Met192Lys)
n.635T>A
c.344T>A (p.Met115Lys)
c.410T>A (p.Met137Lys)
c.419T>A (p.Met140Lys)
1g.21564143T>CCA666534ALPLc.575T>C (p.Met192Thr)
n.635T>C
c.344T>C (p.Met115Thr)
c.410T>C (p.Met137Thr)
c.419T>C (p.Met140Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21564143T>GCA338878116ALPLc.575T>G (p.Met192Arg)
n.635T>G
c.344T>G (p.Met115Arg)
c.410T>G (p.Met137Arg)
c.419T>G (p.Met140Arg)
1g.21564143T=CA1158014478ALPLc.575T= (p.Met192=)
n.635T=
c.344T= (p.Met115=)
c.410T= (p.Met137=)
c.419T= (p.Met140=)
1g.21564144G>ACA338878120ALPLc.576G>A (p.Met192Ile)
n.636G>A
c.345G>A (p.Met115Ile)
c.411G>A (p.Met137Ile)
c.420G>A (p.Met140Ile)
 gnomAD v4
1g.21564144G>CCA338878126ALPLc.576G>C (p.Met192Ile)
n.636G>C
c.345G>C (p.Met115Ile)
c.411G>C (p.Met137Ile)
c.420G>C (p.Met140Ile)
1g.21564144G>TCA338878119ALPLc.576G>T (p.Met192Ile)
n.636G>T
c.345G>T (p.Met115Ile)
c.411G>T (p.Met137Ile)
c.420G>T (p.Met140Ile)
1g.21564144_21564145delinsGCCA1158014479ALPLc.576_577delinsGC (p.Met192=)
n.636_637delinsGC
c.345_346delinsGC (p.Met115=)
c.411_412delinsGC (p.Met137=)
c.420_421delinsGC (p.Met140=)
1g.21564145C>ACA338878134ALPLc.577C>A (p.Pro193Thr)
n.637C>A
c.346C>A (p.Pro116Thr)
c.412C>A (p.Pro138Thr)
c.421C>A (p.Pro141Thr)
1g.21564145C=CA1158014480ALPLc.577C= (p.Pro193=)
n.637C=
c.346C= (p.Pro116=)
c.412C= (p.Pro138=)
c.421C= (p.Pro141=)
1g.21564145C>GCA338878129ALPLc.577C>G (p.Pro193Ala)
n.637C>G
c.346C>G (p.Pro116Ala)
c.412C>G (p.Pro138Ala)
c.421C>G (p.Pro141Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21564145C>TCA338878132ALPLc.577C>T (p.Pro193Ser)
n.637C>T
c.346C>T (p.Pro116Ser)
c.412C>T (p.Pro138Ser)
c.421C>T (p.Pro141Ser)
1g.21564149dupCA521900001ALPLc.581dup (p.Glu195Ter)
n.641dup
c.350dup (p.Glu118Ter)
c.416dup (p.Glu140Ter)
c.425dup (p.Glu143Ter)
 gnomAD v2
1g.21564149delCA666535ALPLc.581del (p.Pro194LeufsTer4)
n.641del
c.350del (p.Pro117LeufsTer4)
c.416del (p.Pro139LeufsTer4)
c.425del (p.Pro142LeufsTer4)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21564146C>ACA338878137ALPLc.578C>A (p.Pro193His)
n.638C>A
c.347C>A (p.Pro116His)
c.413C>A (p.Pro138His)
c.422C>A (p.Pro141His)
 gnomAD v4
1g.21564146C>GCA338878139ALPLc.578C>G (p.Pro193Arg)
n.638C>G
c.347C>G (p.Pro116Arg)
c.413C>G (p.Pro138Arg)
c.422C>G (p.Pro141Arg)
1g.21564146C>TCA338878141ALPLc.578C>T (p.Pro193Leu)
n.638C>T
c.347C>T (p.Pro116Leu)
c.413C>T (p.Pro138Leu)
c.422C>T (p.Pro141Leu)
1g.21564147C>ACA416528073ALPLc.579C>A (p.Pro193=)
n.639C>A
c.348C>A (p.Pro116=)
c.414C>A (p.Pro138=)
c.423C>A (p.Pro141=)
1g.21564147C>GCA416528077ALPLc.579C>G (p.Pro193=)
n.639C>G
c.348C>G (p.Pro116=)
c.414C>G (p.Pro138=)
c.423C>G (p.Pro141=)
1g.21564147C>TCA416528080ALPLc.579C>T (p.Pro193=)
n.639C>T
c.348C>T (p.Pro116=)
c.414C>T (p.Pro138=)
c.423C>T (p.Pro141=)

Number of alleles fetched