Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.101786042A=CA2058964792GNPTABc.541T= (p.Ser181=)
n.335T=
c.175T= (p.Ser59=)
c.460T= (p.Ser154=)
c.325T= (p.Ser109=)
c.-810T= (n.-810T=)
12g.101786042A>CCA386304833GNPTABc.541T>G (p.Ser181Ala)
n.335T>G
c.175T>G (p.Ser59Ala)
c.460T>G (p.Ser154Ala)
c.325T>G (p.Ser109Ala)
c.-810T>G (n.-810T>G)
12g.101786042A>GCA386304834GNPTABc.541T>C (p.Ser181Pro)
n.335T>C
c.175T>C (p.Ser59Pro)
c.460T>C (p.Ser154Pro)
c.325T>C (p.Ser109Pro)
c.-810T>C (n.-810T>C)
12g.101786042A>TCA386304835GNPTABc.541T>A (p.Ser181Thr)
n.335T>A
c.175T>A (p.Ser59Thr)
c.460T>A (p.Ser154Thr)
c.325T>A (p.Ser109Thr)
c.-810T>A (n.-810T>A)
 dbSNP gnomAD v2 gnomAD v4
12g.101786043G>ACA481326198GNPTABc.540C>T (p.Val180=)
n.334C>T
c.174C>T (p.Val58=)
c.459C>T (p.Val153=)
c.324C>T (p.Val108=)
c.-811C>T (n.-811C>T)
12g.101786043G>CCA481326199GNPTABc.540C>G (p.Val180=)
n.334C>G
c.174C>G (p.Val58=)
c.459C>G (p.Val153=)
c.324C>G (p.Val108=)
c.-811C>G (n.-811C>G)
12g.101786043G>TCA481326200GNPTABc.540C>A (p.Val180=)
n.334C>A
c.174C>A (p.Val58=)
c.459C>A (p.Val153=)
c.324C>A (p.Val108=)
c.-811C>A (n.-811C>A)
12g.101786044A=CA2058964793GNPTABc.539T= (p.Val180=)
n.333T=
c.173T= (p.Val58=)
c.458T= (p.Val153=)
c.323T= (p.Val108=)
c.-812T= (n.-812T=)
12g.101786044A>CCA386304836GNPTABc.539T>G (p.Val180Gly)
n.333T>G
c.173T>G (p.Val58Gly)
c.458T>G (p.Val153Gly)
c.323T>G (p.Val108Gly)
c.-812T>G (n.-812T>G)
12g.101786044A>GCA242473328GNPTABc.539T>C (p.Val180Ala)
n.333T>C
c.173T>C (p.Val58Ala)
c.458T>C (p.Val153Ala)
c.323T>C (p.Val108Ala)
c.-812T>C (n.-812T>C)
 dbSNP
12g.101786044A>TCA386304837GNPTABc.539T>A (p.Val180Asp)
n.333T>A
c.173T>A (p.Val58Asp)
c.458T>A (p.Val153Asp)
c.323T>A (p.Val108Asp)
c.-812T>A (n.-812T>A)
12g.101786045C>ACA386304838GNPTABc.538G>T (p.Val180Phe)
n.332G>T
c.172G>T (p.Val58Phe)
c.457G>T (p.Val153Phe)
c.322G>T (p.Val108Phe)
c.-813G>T (n.-813G>T)
12g.101786045C>GCA386304839GNPTABc.538G>C (p.Val180Leu)
n.332G>C
c.172G>C (p.Val58Leu)
c.457G>C (p.Val153Leu)
c.322G>C (p.Val108Leu)
c.-813G>C (n.-813G>C)
12g.101786045C>TCA386304840GNPTABc.538G>A (p.Val180Ile)
n.332G>A
c.172G>A (p.Val58Ile)
c.457G>A (p.Val153Ile)
c.322G>A (p.Val108Ile)
c.-813G>A (n.-813G>A)
12g.101786046A=CA2058964794GNPTABc.537T= (p.Asn179=)
n.331T=
c.171T= (p.Asn57=)
c.456T= (p.Asn152=)
c.321T= (p.Asn107=)
c.-814T= (n.-814T=)
12g.101786046A>CCA386304841GNPTABc.537T>G (p.Asn179Lys)
n.331T>G
c.171T>G (p.Asn57Lys)
c.456T>G (p.Asn152Lys)
c.321T>G (p.Asn107Lys)
c.-814T>G (n.-814T>G)
12g.101786046A>GCA481326203GNPTABc.537T>C (p.Asn179=)
n.331T>C
c.171T>C (p.Asn57=)
c.456T>C (p.Asn152=)
c.321T>C (p.Asn107=)
c.-814T>C (n.-814T>C)
 dbSNP gnomAD v2 gnomAD v4
12g.101786046A>TCA386304842GNPTABc.537T>A (p.Asn179Lys)
n.331T>A
c.171T>A (p.Asn57Lys)
c.456T>A (p.Asn152Lys)
c.321T>A (p.Asn107Lys)
c.-814T>A (n.-814T>A)
12g.101786047T>ACA386304843GNPTABc.536A>T (p.Asn179Ile)
n.330A>T
c.170A>T (p.Asn57Ile)
c.455A>T (p.Asn152Ile)
c.320A>T (p.Asn107Ile)
c.-815A>T (n.-815A>T)
12g.101786047T>CCA386304844GNPTABc.536A>G (p.Asn179Ser)
n.330A>G
c.170A>G (p.Asn57Ser)
c.455A>G (p.Asn152Ser)
c.320A>G (p.Asn107Ser)
c.-815A>G (n.-815A>G)
 gnomAD v4
12g.101786047T>GCA386304845GNPTABc.536A>C (p.Asn179Thr)
n.330A>C
c.170A>C (p.Asn57Thr)
c.455A>C (p.Asn152Thr)
c.320A>C (p.Asn107Thr)
c.-815A>C (n.-815A>C)
12g.101786048delCA2620445685GNPTABc.536del (p.Asn179MetfsTer?)
n.330del
c.170del (p.Asn57MetfsTer?)
c.455del (p.Asn152MetfsTer?)
c.320del (p.Asn107MetfsTer?)
c.-815del (n.-815del)
 gnomAD v4
12g.101786048T>ACA386304846GNPTABc.535A>T (p.Asn179Tyr)
n.329A>T
c.169A>T (p.Asn57Tyr)
c.454A>T (p.Asn152Tyr)
c.319A>T (p.Asn107Tyr)
c.-816A>T (n.-816A>T)
12g.101786048T>CCA386304847GNPTABc.535A>G (p.Asn179Asp)
n.329A>G
c.169A>G (p.Asn57Asp)
c.454A>G (p.Asn152Asp)
c.319A>G (p.Asn107Asp)
c.-816A>G (n.-816A>G)
12g.101786048T>GCA386304848GNPTABc.535A>C (p.Asn179His)
n.329A>C
c.169A>C (p.Asn57His)
c.454A>C (p.Asn152His)
c.319A>C (p.Asn107His)
c.-816A>C (n.-816A>C)
 gnomAD v4
12g.101786049G>ACA481326205GNPTABc.534C>T (p.Thr178=)
n.328C>T
c.168C>T (p.Thr56=)
c.453C>T (p.Thr151=)
c.318C>T (p.Thr106=)
c.-817C>T (n.-817C>T)
 dbSNP
12g.101786049G>CCA6746862GNPTABc.534C>G (p.Thr178=)
n.328C>G
c.168C>G (p.Thr56=)
c.453C>G (p.Thr151=)
c.318C>G (p.Thr106=)
c.-817C>G (n.-817C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101786049G=CA2058964795GNPTABc.534C= (p.Thr178=)
n.328C=
c.168C= (p.Thr56=)
c.453C= (p.Thr151=)
c.318C= (p.Thr106=)
c.-817C= (n.-817C=)
12g.101786049G>TCA481326206GNPTABc.534C>A (p.Thr178=)
n.328C>A
c.168C>A (p.Thr56=)
c.453C>A (p.Thr151=)
c.318C>A (p.Thr106=)
c.-817C>A (n.-817C>A)
12g.101786050G>ACA6746864GNPTABc.533C>T (p.Thr178Ile)
n.327C>T
c.167C>T (p.Thr56Ile)
c.452C>T (p.Thr151Ile)
c.317C>T (p.Thr106Ile)
c.-818C>T (n.-818C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101786050G>CCA6746863GNPTABc.533C>G (p.Thr178Ser)
n.327C>G
c.167C>G (p.Thr56Ser)
c.452C>G (p.Thr151Ser)
c.317C>G (p.Thr106Ser)
c.-818C>G (n.-818C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101786050G=CA2058964796GNPTABc.533C= (p.Thr178=)
n.327C=
c.167C= (p.Thr56=)
c.452C= (p.Thr151=)
c.317C= (p.Thr106=)
c.-818C= (n.-818C=)
12g.101786050G>TCA386304849GNPTABc.533C>A (p.Thr178Asn)
n.327C>A
c.167C>A (p.Thr56Asn)
c.452C>A (p.Thr151Asn)
c.317C>A (p.Thr106Asn)
c.-818C>A (n.-818C>A)
12g.101786051T>ACA386304850GNPTABc.532A>T (p.Thr178Ser)
n.326A>T
c.166A>T (p.Thr56Ser)
c.451A>T (p.Thr151Ser)
c.316A>T (p.Thr106Ser)
c.-819A>T (n.-819A>T)
12g.101786051T>CCA386304852GNPTABc.532A>G (p.Thr178Ala)
n.326A>G
c.166A>G (p.Thr56Ala)
c.451A>G (p.Thr151Ala)
c.316A>G (p.Thr106Ala)
c.-819A>G (n.-819A>G)
12g.101786051T>GCA386304851GNPTABc.532A>C (p.Thr178Pro)
n.326A>C
c.166A>C (p.Thr56Pro)
c.451A>C (p.Thr151Pro)
c.316A>C (p.Thr106Pro)
c.-819A>C (n.-819A>C)
12g.101786052A>CCA481326208GNPTABc.531T>G (p.Ser177=)
n.325T>G
c.165T>G (p.Ser55=)
c.450T>G (p.Ser150=)
c.315T>G (p.Ser105=)
c.-820T>G (n.-820T>G)
12g.101786052A>GCA481326210GNPTABc.531T>C (p.Ser177=)
n.325T>C
c.165T>C (p.Ser55=)
c.450T>C (p.Ser150=)
c.315T>C (p.Ser105=)
c.-820T>C (n.-820T>C)
12g.101786052A>TCA481326209GNPTABc.531T>A (p.Ser177=)
n.325T>A
c.165T>A (p.Ser55=)
c.450T>A (p.Ser150=)
c.315T>A (p.Ser105=)
c.-820T>A (n.-820T>A)
12g.101786053G>ACA386304853GNPTABc.530C>T (p.Ser177Phe)
n.324C>T
c.164C>T (p.Ser55Phe)
c.449C>T (p.Ser150Phe)
c.314C>T (p.Ser105Phe)
c.-821C>T (n.-821C>T)
12g.101786053G>CCA386304854GNPTABc.530C>G (p.Ser177Cys)
n.324C>G
c.164C>G (p.Ser55Cys)
c.449C>G (p.Ser150Cys)
c.314C>G (p.Ser105Cys)
c.-821C>G (n.-821C>G)
12g.101786053G>TCA386304855GNPTABc.530C>A (p.Ser177Tyr)
n.324C>A
c.164C>A (p.Ser55Tyr)
c.449C>A (p.Ser150Tyr)
c.314C>A (p.Ser105Tyr)
c.-821C>A (n.-821C>A)
12g.101786054A>CCA386304856GNPTABc.529T>G (p.Ser177Ala)
n.323T>G
c.163T>G (p.Ser55Ala)
c.448T>G (p.Ser150Ala)
c.313T>G (p.Ser105Ala)
c.-822T>G (n.-822T>G)
12g.101786054A>GCA386304857GNPTABc.529T>C (p.Ser177Pro)
n.323T>C
c.163T>C (p.Ser55Pro)
c.448T>C (p.Ser150Pro)
c.313T>C (p.Ser105Pro)
c.-822T>C (n.-822T>C)
 gnomAD v4
12g.101786054A>TCA386304858GNPTABc.529T>A (p.Ser177Thr)
n.323T>A
c.163T>A (p.Ser55Thr)
c.448T>A (p.Ser150Thr)
c.313T>A (p.Ser105Thr)
c.-822T>A (n.-822T>A)
12g.101786055A>CCA481326213GNPTABc.528T>G (p.Pro176=)
n.322T>G
c.162T>G (p.Pro54=)
c.447T>G (p.Pro149=)
c.312T>G (p.Pro104=)
c.-823T>G (n.-823T>G)
12g.101786055A>GCA481326214GNPTABc.528T>C (p.Pro176=)
n.322T>C
c.162T>C (p.Pro54=)
c.447T>C (p.Pro149=)
c.312T>C (p.Pro104=)
c.-823T>C (n.-823T>C)
12g.101786055A>TCA481326215GNPTABc.528T>A (p.Pro176=)
n.322T>A
c.162T>A (p.Pro54=)
c.447T>A (p.Pro149=)
c.312T>A (p.Pro104=)
c.-823T>A (n.-823T>A)
12g.101786056G>ACA6746865GNPTABc.527C>T (p.Pro176Leu)
n.321C>T
c.161C>T (p.Pro54Leu)
c.446C>T (p.Pro149Leu)
c.311C>T (p.Pro104Leu)
c.-824C>T (n.-824C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101786056G>CCA386304859GNPTABc.527C>G (p.Pro176Arg)
n.321C>G
c.161C>G (p.Pro54Arg)
c.446C>G (p.Pro149Arg)
c.311C>G (p.Pro104Arg)
c.-824C>G (n.-824C>G)
 ClinVar dbSNP gnomAD v4
12g.101786056G=CA2058964797GNPTABc.527C= (p.Pro176=)
n.321C=
c.161C= (p.Pro54=)
c.446C= (p.Pro149=)
c.311C= (p.Pro104=)
c.-824C= (n.-824C=)
12g.101786056G>TCA386304860GNPTABc.527C>A (p.Pro176His)
n.321C>A
c.161C>A (p.Pro54His)
c.446C>A (p.Pro149His)
c.311C>A (p.Pro104His)
c.-824C>A (n.-824C>A)
12g.101786057G>ACA386304861GNPTABc.526C>T (p.Pro176Ser)
n.320C>T
c.160C>T (p.Pro54Ser)
c.445C>T (p.Pro149Ser)
c.310C>T (p.Pro104Ser)
c.-825C>T (n.-825C>T)
 COSMIC COSMIC
12g.101786057G>CCA386304862GNPTABc.526C>G (p.Pro176Ala)
n.320C>G
c.160C>G (p.Pro54Ala)
c.445C>G (p.Pro149Ala)
c.310C>G (p.Pro104Ala)
c.-825C>G (n.-825C>G)
12g.101786057G>TCA386304863GNPTABc.526C>A (p.Pro176Thr)
n.320C>A
c.160C>A (p.Pro54Thr)
c.445C>A (p.Pro149Thr)
c.310C>A (p.Pro104Thr)
c.-825C>A (n.-825C>A)
12g.101786058G>ACA481326219GNPTABc.525C>T (p.Asn175=)
n.319C>T
c.159C>T (p.Asn53=)
c.444C>T (p.Asn148=)
c.309C>T (p.Asn103=)
c.-826C>T (n.-826C>T)
 ClinVar dbSNP gnomAD v4
12g.101786058G>CCA386304864GNPTABc.525C>G (p.Asn175Lys)
n.319C>G
c.159C>G (p.Asn53Lys)
c.444C>G (p.Asn148Lys)
c.309C>G (p.Asn103Lys)
c.-826C>G (n.-826C>G)
12g.101786058G=CA2058964798GNPTABc.525C= (p.Asn175=)
n.319C=
c.159C= (p.Asn53=)
c.444C= (p.Asn148=)
c.309C= (p.Asn103=)
c.-826C= (n.-826C=)
12g.101786058G>TCA386304865GNPTABc.525C>A (p.Asn175Lys)
n.319C>A
c.159C>A (p.Asn53Lys)
c.444C>A (p.Asn148Lys)
c.309C>A (p.Asn103Lys)
c.-826C>A (n.-826C>A)
12g.101786059T>ACA386304866GNPTABc.524A>T (p.Asn175Ile)
n.318A>T
c.158A>T (p.Asn53Ile)
c.443A>T (p.Asn148Ile)
c.308A>T (p.Asn103Ile)
c.-827A>T (n.-827A>T)
12g.101786059T>CCA386304867GNPTABc.524A>G (p.Asn175Ser)
n.318A>G
c.158A>G (p.Asn53Ser)
c.443A>G (p.Asn148Ser)
c.308A>G (p.Asn103Ser)
c.-827A>G (n.-827A>G)
12g.101786059T>GCA386304868GNPTABc.524A>C (p.Asn175Thr)
n.318A>C
c.158A>C (p.Asn53Thr)
c.443A>C (p.Asn148Thr)
c.308A>C (p.Asn103Thr)
c.-827A>C (n.-827A>C)
12g.101786059_101786060delinsCCA2695217347GNPTABc.523_524delinsG (p.Asn175AlafsTer?)
n.317_318delinsG
c.157_158delinsG (p.Asn53AlafsTer?)
c.442_443delinsG (p.Asn148AlafsTer?)
c.307_308delinsG (p.Asn103AlafsTer?)
c.-828_-827delinsG (n.-828_-827delinsG)
12g.101786064dupCA607598039GNPTABc.524dup (p.Asn175LysfsTer12)
n.318dup
c.158dup (p.Asn53LysfsTer12)
c.443dup (p.Asn148LysfsTer12)
c.308dup (p.Asn103LysfsTer12)
c.-827dup (n.-827dup)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.101786059_101786076delinsTTTTTTGGTTTTGCAACACA2058964799GNPTABc.507_524delinsTGTTGCAAAACCAAAAAA (p.Asn169=)
n.301_318delinsTGTTGCAAAACCAAAAAA
c.141_158delinsTGTTGCAAAACCAAAAAA (p.Asn47=)
c.426_443delinsTGTTGCAAAACCAAAAAA (p.Asn142=)
c.291_308delinsTGTTGCAAAACCAAAAAA (p.Asn97=)
c.-844_-827delinsTGTTGCAAAACCAAAAAA (n.-844_-827delinsTGTTGCAAAACCAAAAAA)
12g.101786060T>ACA386304869GNPTABc.523A>T (p.Asn175Tyr)
n.317A>T
c.157A>T (p.Asn53Tyr)
c.442A>T (p.Asn148Tyr)
c.307A>T (p.Asn103Tyr)
c.-828A>T (n.-828A>T)
 gnomAD v4
12g.101786060T>CCA386304870GNPTABc.523A>G (p.Asn175Asp)
n.317A>G
c.157A>G (p.Asn53Asp)
c.442A>G (p.Asn148Asp)
c.307A>G (p.Asn103Asp)
c.-828A>G (n.-828A>G)
12g.101786060T>GCA386304871GNPTABc.523A>C (p.Asn175His)
n.317A>C
c.157A>C (p.Asn53His)
c.442A>C (p.Asn148His)
c.307A>C (p.Asn103His)
c.-828A>C (n.-828A>C)
12g.101786062_101786078delCA607598040GNPTABc.507_523del (p.Asn169LysfsTer12)
n.301_317del
c.141_157del (p.Asn47LysfsTer12)
c.426_442del (p.Asn142LysfsTer12)
c.291_307del (p.Asn97LysfsTer12)
c.-844_-828del (n.-844_-828del)
 dbSNP gnomAD v2 gnomAD v4
12g.101786061T>ACA386304872GNPTABc.522A>T (p.Lys174Asn)
n.316A>T
c.156A>T (p.Lys52Asn)
c.441A>T (p.Lys147Asn)
c.306A>T (p.Lys102Asn)
c.-829A>T (n.-829A>T)
12g.101786061T>CCA481326222GNPTABc.522A>G (p.Lys174=)
n.316A>G
c.156A>G (p.Lys52=)
c.441A>G (p.Lys147=)
c.306A>G (p.Lys102=)
c.-829A>G (n.-829A>G)
12g.101786061T>GCA386304873GNPTABc.522A>C (p.Lys174Asn)
n.316A>C
c.156A>C (p.Lys52Asn)
c.441A>C (p.Lys147Asn)
c.306A>C (p.Lys102Asn)
c.-829A>C (n.-829A>C)
12g.101786062T>ACA386304874GNPTABc.521A>T (p.Lys174Ile)
n.315A>T
c.155A>T (p.Lys52Ile)
c.440A>T (p.Lys147Ile)
c.305A>T (p.Lys102Ile)
c.-830A>T (n.-830A>T)
12g.101786062T>CCA6746866GNPTABc.521A>G (p.Lys174Arg)
n.315A>G
c.155A>G (p.Lys52Arg)
c.440A>G (p.Lys147Arg)
c.305A>G (p.Lys102Arg)
c.-830A>G (n.-830A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101786062T>GCA386304875GNPTABc.521A>C (p.Lys174Thr)
n.315A>C
c.155A>C (p.Lys52Thr)
c.440A>C (p.Lys147Thr)
c.305A>C (p.Lys102Thr)
c.-830A>C (n.-830A>C)
12g.101786062T=CA2058964800GNPTABc.521A= (p.Lys174=)
n.315A=
c.155A= (p.Lys52=)
c.440A= (p.Lys147=)
c.305A= (p.Lys102=)
c.-830A= (n.-830A=)
12g.101786063T>ACA386304877GNPTABc.520A>T (p.Lys174Ter)
n.314A>T
c.154A>T (p.Lys52Ter)
c.439A>T (p.Lys147Ter)
c.304A>T (p.Lys102Ter)
c.-831A>T (n.-831A>T)
12g.101786063T>CCA386304878GNPTABc.520A>G (p.Lys174Glu)
n.314A>G
c.154A>G (p.Lys52Glu)
c.439A>G (p.Lys147Glu)
c.304A>G (p.Lys102Glu)
c.-831A>G (n.-831A>G)
12g.101786063T>GCA386304876GNPTABc.520A>C (p.Lys174Gln)
n.314A>C
c.154A>C (p.Lys52Gln)
c.439A>C (p.Lys147Gln)
c.304A>C (p.Lys102Gln)
c.-831A>C (n.-831A>C)
12g.101786064T>ACA481326224GNPTABc.519A>T (p.Pro173=)
n.313A>T
c.153A>T (p.Pro51=)
c.438A>T (p.Pro146=)
c.303A>T (p.Pro101=)
c.-832A>T (n.-832A>T)
12g.101786064T>CCA481326225GNPTABc.519A>G (p.Pro173=)
n.313A>G
c.153A>G (p.Pro51=)
c.438A>G (p.Pro146=)
c.303A>G (p.Pro101=)
c.-832A>G (n.-832A>G)
12g.101786064T>GCA6746867GNPTABc.519A>C (p.Pro173=)
n.313A>C
c.153A>C (p.Pro51=)
c.438A>C (p.Pro146=)
c.303A>C (p.Pro101=)
c.-832A>C (n.-832A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.101786064T=CA2058964801GNPTABc.519A= (p.Pro173=)
n.313A=
c.153A= (p.Pro51=)
c.438A= (p.Pro146=)
c.303A= (p.Pro101=)
c.-832A= (n.-832A=)
12g.101786064_101786066delinsTGGCA2058964802GNPTABc.517_519delinsCCA (p.Pro173=)
n.311_313delinsCCA
c.151_153delinsCCA (p.Pro51=)
c.436_438delinsCCA (p.Pro146=)
c.301_303delinsCCA (p.Pro101=)
c.-834_-832delinsCCA (n.-834_-832delinsCCA)
12g.101786065G>ACA386304879GNPTABc.518C>T (p.Pro173Leu)
n.312C>T
c.152C>T (p.Pro51Leu)
c.437C>T (p.Pro146Leu)
c.302C>T (p.Pro101Leu)
c.-833C>T (n.-833C>T)
12g.101786065G>CCA386304880GNPTABc.518C>G (p.Pro173Arg)
n.312C>G
c.152C>G (p.Pro51Arg)
c.437C>G (p.Pro146Arg)
c.302C>G (p.Pro101Arg)
c.-833C>G (n.-833C>G)
12g.101786065G=CA2058964803GNPTABc.518C= (p.Pro173=)
n.312C=
c.152C= (p.Pro51=)
c.437C= (p.Pro146=)
c.302C= (p.Pro101=)
c.-833C= (n.-833C=)
12g.101786065G>TCA386304881GNPTABc.518C>A (p.Pro173Gln)
n.312C>A
c.152C>A (p.Pro51Gln)
c.437C>A (p.Pro146Gln)
c.302C>A (p.Pro101Gln)
c.-833C>A (n.-833C>A)
12g.101786065_101786066delCA607598041GNPTABc.517_518del (p.Pro173LysfsTer13)
n.311_312del
c.151_152del (p.Pro51LysfsTer13)
c.436_437del (p.Pro146LysfsTer13)
c.301_302del (p.Pro101LysfsTer13)
c.-834_-833del (n.-834_-833del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101786065_101786066dupCA682739391GNPTABc.517_518dup (p.Lys174GlnfsTer?)
n.311_312dup
c.151_152dup (p.Lys52GlnfsTer?)
c.436_437dup (p.Lys147GlnfsTer?)
c.301_302dup (p.Lys102GlnfsTer?)
c.-834_-833dup (n.-834_-833dup)
12g.101786066delCA2573147974GNPTABc.518del (p.Pro173GlnfsTer?)
n.312del
c.152del (p.Pro51GlnfsTer?)
c.437del (p.Pro146GlnfsTer?)
c.302del (p.Pro101GlnfsTer?)
c.-833del (n.-833del)
 ClinVar dbSNP
12g.101786065_101786066insTCA343409GNPTABc.517_518insA (p.Pro173HisfsTer14)
n.311_312insA
c.151_152insA (p.Pro51HisfsTer14)
c.436_437insA (p.Pro146HisfsTer14)
c.301_302insA (p.Pro101HisfsTer14)
c.-834_-833insA (n.-834_-833insA)
 ClinVar dbSNP
12g.101786066G>ACA386304882GNPTABc.517C>T (p.Pro173Ser)
n.311C>T
c.151C>T (p.Pro51Ser)
c.436C>T (p.Pro146Ser)
c.301C>T (p.Pro101Ser)
c.-834C>T (n.-834C>T)
12g.101786066G>CCA386304883GNPTABc.517C>G (p.Pro173Ala)
n.311C>G
c.151C>G (p.Pro51Ala)
c.436C>G (p.Pro146Ala)
c.301C>G (p.Pro101Ala)
c.-834C>G (n.-834C>G)
12g.101786066G>TCA386304884GNPTABc.517C>A (p.Pro173Thr)
n.311C>A
c.151C>A (p.Pro51Thr)
c.436C>A (p.Pro146Thr)
c.301C>A (p.Pro101Thr)
c.-834C>A (n.-834C>A)
12g.101786067T>ACA386304885GNPTABc.516A>T (p.Lys172Asn)
n.310A>T
c.150A>T (p.Lys50Asn)
c.435A>T (p.Lys145Asn)
c.300A>T (p.Lys100Asn)
c.-835A>T (n.-835A>T)
12g.101786067T>CCA481326227GNPTABc.516A>G (p.Lys172=)
n.310A>G
c.150A>G (p.Lys50=)
c.435A>G (p.Lys145=)
c.300A>G (p.Lys100=)
c.-835A>G (n.-835A>G)
 ClinVar gnomAD v4
12g.101786067T>GCA386304886GNPTABc.516A>C (p.Lys172Asn)
n.310A>C
c.150A>C (p.Lys50Asn)
c.435A>C (p.Lys145Asn)
c.300A>C (p.Lys100Asn)
c.-835A>C (n.-835A>C)
12g.101786070dupCA2620445720GNPTABc.516dup (p.Pro173ThrfsTer14)
n.310dup
c.150dup (p.Pro51ThrfsTer14)
c.435dup (p.Pro146ThrfsTer14)
c.300dup (p.Pro101ThrfsTer14)
c.-835dup (n.-835dup)
 gnomAD v4
12g.101786068T>ACA386304887GNPTABc.515A>T (p.Lys172Ile)
n.309A>T
c.149A>T (p.Lys50Ile)
c.434A>T (p.Lys145Ile)
c.299A>T (p.Lys100Ile)
c.-836A>T (n.-836A>T)
12g.101786068T>CCA386304888GNPTABc.515A>G (p.Lys172Arg)
n.309A>G
c.149A>G (p.Lys50Arg)
c.434A>G (p.Lys145Arg)
c.299A>G (p.Lys100Arg)
c.-836A>G (n.-836A>G)
12g.101786068T>GCA386304889GNPTABc.515A>C (p.Lys172Thr)
n.309A>C
c.149A>C (p.Lys50Thr)
c.434A>C (p.Lys145Thr)
c.299A>C (p.Lys100Thr)
c.-836A>C (n.-836A>C)
12g.101786069T>ACA386304892GNPTABc.514A>T (p.Lys172Ter)
n.308A>T
c.148A>T (p.Lys50Ter)
c.433A>T (p.Lys145Ter)
c.298A>T (p.Lys100Ter)
c.-837A>T (n.-837A>T)
12g.101786069T>CCA386304891GNPTABc.514A>G (p.Lys172Glu)
n.308A>G
c.148A>G (p.Lys50Glu)
c.433A>G (p.Lys145Glu)
c.298A>G (p.Lys100Glu)
c.-837A>G (n.-837A>G)
12g.101786069T>GCA386304890GNPTABc.514A>C (p.Lys172Gln)
n.308A>C
c.148A>C (p.Lys50Gln)
c.433A>C (p.Lys145Gln)
c.298A>C (p.Lys100Gln)
c.-837A>C (n.-837A>C)
12g.101786070T>ACA481326231GNPTABc.513A>T (p.Ala171=)
n.307A>T
c.147A>T (p.Ala49=)
c.432A>T (p.Ala144=)
c.297A>T (p.Ala99=)
c.-838A>T (n.-838A>T)
12g.101786070T>CCA6746868GNPTABc.513A>G (p.Ala171=)
n.307A>G
c.147A>G (p.Ala49=)
c.432A>G (p.Ala144=)
c.297A>G (p.Ala99=)
c.-838A>G (n.-838A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101786070T>GCA481326234GNPTABc.513A>C (p.Ala171=)
n.307A>C
c.147A>C (p.Ala49=)
c.432A>C (p.Ala144=)
c.297A>C (p.Ala99=)
c.-838A>C (n.-838A>C)
12g.101786070T=CA2058964805GNPTABc.513A= (p.Ala171=)
n.307A=
c.147A= (p.Ala49=)
c.432A= (p.Ala144=)
c.297A= (p.Ala99=)
c.-838A= (n.-838A=)
12g.101786070_101786074delinsTGCAACA2058964804GNPTABc.509_513delinsTTGCA (p.Val170=)
n.303_307delinsTTGCA
c.143_147delinsTTGCA (p.Val48=)
c.428_432delinsTTGCA (p.Val143=)
c.293_297delinsTTGCA (p.Val98=)
c.-842_-838delinsTTGCA (n.-842_-838delinsTTGCA)
12g.101786071G>ACA6746869GNPTABc.512C>T (p.Ala171Val)
n.306C>T
c.146C>T (p.Ala49Val)
c.431C>T (p.Ala144Val)
c.296C>T (p.Ala99Val)
c.-839C>T (n.-839C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101786071G>CCA386304893GNPTABc.512C>G (p.Ala171Gly)
n.306C>G
c.146C>G (p.Ala49Gly)
c.431C>G (p.Ala144Gly)
c.296C>G (p.Ala99Gly)
c.-839C>G (n.-839C>G)
 dbSNP gnomAD v3 gnomAD v4
12g.101786071G=CA2058964806GNPTABc.512C= (p.Ala171=)
n.306C=
c.146C= (p.Ala49=)
c.431C= (p.Ala144=)
c.296C= (p.Ala99=)
c.-839C= (n.-839C=)
12g.101786071G>TCA386304894GNPTABc.512C>A (p.Ala171Glu)
n.306C>A
c.146C>A (p.Ala49Glu)
c.431C>A (p.Ala144Glu)
c.296C>A (p.Ala99Glu)
c.-839C>A (n.-839C>A)
12g.101786071_101786074delCA607598042GNPTABc.509_512del (p.Val170GlufsTer?)
n.303_306del
c.143_146del (p.Val48GlufsTer?)
c.428_431del (p.Val143GlufsTer?)
c.293_296del (p.Val98GlufsTer?)
c.-842_-839del (n.-842_-839del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101786072C>ACA386304895GNPTABc.511G>T (p.Ala171Ser)
n.305G>T
c.145G>T (p.Ala49Ser)
c.430G>T (p.Ala144Ser)
c.295G>T (p.Ala99Ser)
c.-840G>T (n.-840G>T)
12g.101786072C>GCA386304896GNPTABc.511G>C (p.Ala171Pro)
n.305G>C
c.145G>C (p.Ala49Pro)
c.430G>C (p.Ala144Pro)
c.295G>C (p.Ala99Pro)
c.-840G>C (n.-840G>C)
12g.101786072C>TCA386304897GNPTABc.511G>A (p.Ala171Thr)
n.305G>A
c.145G>A (p.Ala49Thr)
c.430G>A (p.Ala144Thr)
c.295G>A (p.Ala99Thr)
c.-840G>A (n.-840G>A)
12g.101786073A>CCA481326237GNPTABc.510T>G (p.Val170=)
n.304T>G
c.144T>G (p.Val48=)
c.429T>G (p.Val143=)
c.294T>G (p.Val98=)
c.-841T>G (n.-841T>G)
12g.101786073A>GCA481326239GNPTABc.510T>C (p.Val170=)
n.304T>C
c.144T>C (p.Val48=)
c.429T>C (p.Val143=)
c.294T>C (p.Val98=)
c.-841T>C (n.-841T>C)
 gnomAD v4
12g.101786073A>TCA481326238GNPTABc.510T>A (p.Val170=)
n.304T>A
c.144T>A (p.Val48=)
c.429T>A (p.Val143=)
c.294T>A (p.Val98=)
c.-841T>A (n.-841T>A)
12g.101786074A=CA2058964807GNPTABc.509T= (p.Val170=)
n.303T=
c.143T= (p.Val48=)
c.428T= (p.Val143=)
c.293T= (p.Val98=)
c.-842T= (n.-842T=)
12g.101786074A>CCA386304898GNPTABc.509T>G (p.Val170Gly)
n.303T>G
c.143T>G (p.Val48Gly)
c.428T>G (p.Val143Gly)
c.293T>G (p.Val98Gly)
c.-842T>G (n.-842T>G)
12g.101786074A>GCA386304899GNPTABc.509T>C (p.Val170Ala)
n.303T>C
c.143T>C (p.Val48Ala)
c.428T>C (p.Val143Ala)
c.293T>C (p.Val98Ala)
c.-842T>C (n.-842T>C)
12g.101786074A>TCA386304900GNPTABc.509T>A (p.Val170Asp)
n.303T>A
c.143T>A (p.Val48Asp)
c.428T>A (p.Val143Asp)
c.293T>A (p.Val98Asp)
c.-842T>A (n.-842T>A)
12g.101786074_101786075insTTTTTTCA607598043GNPTABc.508_509insAAAAAA (p.Val170delinsGluLysIle)
n.302_303insAAAAAA
c.142_143insAAAAAA (p.Val48delinsGluLysIle)
c.427_428insAAAAAA (p.Val143delinsGluLysIle)
c.292_293insAAAAAA (p.Val98delinsGluLysIle)
c.-843_-842insAAAAAA (n.-843_-842insAAAAAA)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101786075delCA2620445733GNPTABc.508del (p.Val170LeufsTer?)
n.302del
c.142del (p.Val48LeufsTer?)
c.427del (p.Val143LeufsTer?)
c.292del (p.Val98LeufsTer?)
c.-843del (n.-843del)
 gnomAD v4
12g.101786075C>ACA386304901GNPTABc.508G>T (p.Val170Phe)
n.302G>T
c.142G>T (p.Val48Phe)
c.427G>T (p.Val143Phe)
c.292G>T (p.Val98Phe)
c.-843G>T (n.-843G>T)
12g.101786075C>GCA386304902GNPTABc.508G>C (p.Val170Leu)
n.302G>C
c.142G>C (p.Val48Leu)
c.427G>C (p.Val143Leu)
c.292G>C (p.Val98Leu)
c.-843G>C (n.-843G>C)
12g.101786075C>TCA386304903GNPTABc.508G>A (p.Val170Ile)
n.302G>A
c.142G>A (p.Val48Ile)
c.427G>A (p.Val143Ile)
c.292G>A (p.Val98Ile)
c.-843G>A (n.-843G>A)
12g.101786075_101786076delinsCACA2058964808GNPTABc.507_508delinsTG (p.Asn169=)
n.301_302delinsTG
c.141_142delinsTG (p.Asn47=)
c.426_427delinsTG (p.Asn142=)
c.291_292delinsTG (p.Asn97=)
c.-844_-843delinsTG (n.-844_-843delinsTG)
12g.101786076delCA2058964809GNPTABc.507del (p.Asn169LysfsTer?)
n.301del
c.141del (p.Asn47LysfsTer?)
c.426del (p.Asn142LysfsTer?)
c.291del (p.Asn97LysfsTer?)
c.-844del (n.-844del)
 dbSNP
12g.101786076A=CA2058964810GNPTABc.507T= (p.Asn169=)
n.301T=
c.141T= (p.Asn47=)
c.426T= (p.Asn142=)
c.291T= (p.Asn97=)
c.-844T= (n.-844T=)
12g.101786076A>CCA386304904GNPTABc.507T>G (p.Asn169Lys)
n.301T>G
c.141T>G (p.Asn47Lys)
c.426T>G (p.Asn142Lys)
c.291T>G (p.Asn97Lys)
c.-844T>G (n.-844T>G)
 gnomAD v4
12g.101786076A>GCA481326241GNPTABc.507T>C (p.Asn169=)
n.301T>C
c.141T>C (p.Asn47=)
c.426T>C (p.Asn142=)
c.291T>C (p.Asn97=)
c.-844T>C (n.-844T>C)
 ClinVar dbSNP
12g.101786076A>TCA386304905GNPTABc.507T>A (p.Asn169Lys)
n.301T>A
c.141T>A (p.Asn47Lys)
c.426T>A (p.Asn142Lys)
c.291T>A (p.Asn97Lys)
c.-844T>A (n.-844T>A)
12g.101786077T>ACA386304906GNPTABc.506A>T (p.Asn169Ile)
n.300A>T
c.140A>T (p.Asn47Ile)
c.425A>T (p.Asn142Ile)
c.290A>T (p.Asn97Ile)
c.-845A>T (n.-845A>T)
12g.101786077T>CCA6746870GNPTABc.506A>G (p.Asn169Ser)
n.300A>G
c.140A>G (p.Asn47Ser)
c.425A>G (p.Asn142Ser)
c.290A>G (p.Asn97Ser)
c.-845A>G (n.-845A>G)
 dbSNP ExAC gnomAD v3 gnomAD v4
12g.101786077T>GCA386304907GNPTABc.506A>C (p.Asn169Thr)
n.300A>C
c.140A>C (p.Asn47Thr)
c.425A>C (p.Asn142Thr)
c.290A>C (p.Asn97Thr)
c.-845A>C (n.-845A>C)
12g.101786077T=CA2058964811GNPTABc.506A= (p.Asn169=)
n.300A=
c.140A= (p.Asn47=)
c.425A= (p.Asn142=)
c.290A= (p.Asn97=)
c.-845A= (n.-845A=)
12g.101786078T>ACA386304908GNPTABc.505A>T (p.Asn169Tyr)
n.299A>T
c.139A>T (p.Asn47Tyr)
c.424A>T (p.Asn142Tyr)
c.289A>T (p.Asn97Tyr)
c.-846A>T (n.-846A>T)
12g.101786078T>CCA386304910GNPTABc.505A>G (p.Asn169Asp)
n.299A>G
c.139A>G (p.Asn47Asp)
c.424A>G (p.Asn142Asp)
c.289A>G (p.Asn97Asp)
c.-846A>G (n.-846A>G)
12g.101786078T>GCA386304909GNPTABc.505A>C (p.Asn169His)
n.299A>C
c.139A>C (p.Asn47His)
c.424A>C (p.Asn142His)
c.289A>C (p.Asn97His)
c.-846A>C (n.-846A>C)
12g.101786079G>ACA481326243GNPTABc.504C>T (p.Phe168=)
n.298C>T
c.138C>T (p.Phe46=)
c.423C>T (p.Phe141=)
c.288C>T (p.Phe96=)
c.-847C>T (n.-847C>T)
12g.101786079G>CCA386304911GNPTABc.504C>G (p.Phe168Leu)
n.298C>G
c.138C>G (p.Phe46Leu)
c.423C>G (p.Phe141Leu)
c.288C>G (p.Phe96Leu)
c.-847C>G (n.-847C>G)
12g.101786079G=CA2058964812GNPTABc.504C= (p.Phe168=)
n.298C=
c.138C= (p.Phe46=)
c.423C= (p.Phe141=)
c.288C= (p.Phe96=)
c.-847C= (n.-847C=)
12g.101786079G>TCA386304912GNPTABc.504C>A (p.Phe168Leu)
n.298C>A
c.138C>A (p.Phe46Leu)
c.423C>A (p.Phe141Leu)
c.288C>A (p.Phe96Leu)
c.-847C>A (n.-847C>A)
 dbSNP gnomAD v2 gnomAD v4
12g.101786080A>CCA386304913GNPTABc.503T>G (p.Phe168Cys)
n.297T>G
c.137T>G (p.Phe46Cys)
c.422T>G (p.Phe141Cys)
c.287T>G (p.Phe96Cys)
c.-848T>G (n.-848T>G)
12g.101786080A>GCA386304915GNPTABc.503T>C (p.Phe168Ser)
n.297T>C
c.137T>C (p.Phe46Ser)
c.422T>C (p.Phe141Ser)
c.287T>C (p.Phe96Ser)
c.-848T>C (n.-848T>C)
 gnomAD v4
12g.101786080A>TCA386304914GNPTABc.503T>A (p.Phe168Tyr)
n.297T>A
c.137T>A (p.Phe46Tyr)
c.422T>A (p.Phe141Tyr)
c.287T>A (p.Phe96Tyr)
c.-848T>A (n.-848T>A)
12g.101786081A>CCA386304916GNPTABc.502T>G (p.Phe168Val)
n.296T>G
c.136T>G (p.Phe46Val)
c.421T>G (p.Phe141Val)
c.286T>G (p.Phe96Val)
c.-849T>G (n.-849T>G)
12g.101786081A>GCA386304917GNPTABc.502T>C (p.Phe168Leu)
n.296T>C
c.136T>C (p.Phe46Leu)
c.421T>C (p.Phe141Leu)
c.286T>C (p.Phe96Leu)
c.-849T>C (n.-849T>C)
12g.101786081A>TCA386304918GNPTABc.502T>A (p.Phe168Ile)
n.296T>A
c.136T>A (p.Phe46Ile)
c.421T>A (p.Phe141Ile)
c.286T>A (p.Phe96Ile)
c.-849T>A (n.-849T>A)
12g.101786082A>CCA386304919GNPTABc.501T>G (p.Ile167Met)
n.295T>G
c.135T>G (p.Ile45Met)
c.420T>G (p.Ile140Met)
c.285T>G (p.Ile95Met)
c.-850T>G (n.-850T>G)
12g.101786082A>GCA481326244GNPTABc.501T>C (p.Ile167=)
n.295T>C
c.135T>C (p.Ile45=)
c.420T>C (p.Ile140=)
c.285T>C (p.Ile95=)
c.-850T>C (n.-850T>C)
12g.101786082A>TCA481326246GNPTABc.501T>A (p.Ile167=)
n.295T>A
c.135T>A (p.Ile45=)
c.420T>A (p.Ile140=)
c.285T>A (p.Ile95=)
c.-850T>A (n.-850T>A)
12g.101786083A=CA2058964813GNPTABc.500T= (p.Ile167=)
n.294T=
c.134T= (p.Ile45=)
c.419T= (p.Ile140=)
c.284T= (p.Ile95=)
c.-851T= (n.-851T=)
12g.101786083A>CCA386304920GNPTABc.500T>G (p.Ile167Ser)
n.294T>G
c.134T>G (p.Ile45Ser)
c.419T>G (p.Ile140Ser)
c.284T>G (p.Ile95Ser)
c.-851T>G (n.-851T>G)
12g.101786083A>GCA386304921GNPTABc.500T>C (p.Ile167Thr)
n.294T>C
c.134T>C (p.Ile45Thr)
c.419T>C (p.Ile140Thr)
c.284T>C (p.Ile95Thr)
c.-851T>C (n.-851T>C)
12g.101786083A>TCA6746871GNPTABc.500T>A (p.Ile167Asn)
n.294T>A
c.134T>A (p.Ile45Asn)
c.419T>A (p.Ile140Asn)
c.284T>A (p.Ile95Asn)
c.-851T>A (n.-851T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101786084T>ACA386304922GNPTABc.499A>T (p.Ile167Phe)
n.293A>T
c.133A>T (p.Ile45Phe)
c.418A>T (p.Ile140Phe)
c.283A>T (p.Ile95Phe)
c.-852A>T (n.-852A>T)
12g.101786084T>CCA386304923GNPTABc.499A>G (p.Ile167Val)
n.293A>G
c.133A>G (p.Ile45Val)
c.418A>G (p.Ile140Val)
c.283A>G (p.Ile95Val)
c.-852A>G (n.-852A>G)
 dbSNP gnomAD v2 gnomAD v4
12g.101786084T>GCA386304924GNPTABc.499A>C (p.Ile167Leu)
n.293A>C
c.133A>C (p.Ile45Leu)
c.418A>C (p.Ile140Leu)
c.283A>C (p.Ile95Leu)
c.-852A>C (n.-852A>C)
12g.101786084T=CA2058964814GNPTABc.499A= (p.Ile167=)
n.293A=
c.133A= (p.Ile45=)
c.418A= (p.Ile140=)
c.283A= (p.Ile95=)
c.-852A= (n.-852A=)
12g.101786085G>ACA481326247GNPTABc.498C>T (p.Asp166=)
n.292C>T
c.132C>T (p.Asp44=)
c.417C>T (p.Asp139=)
c.282C>T (p.Asp94=)
c.-853C>T (n.-853C>T)
12g.101786085G>CCA6746872GNPTABc.498C>G (p.Asp166Glu)
n.292C>G
c.132C>G (p.Asp44Glu)
c.417C>G (p.Asp139Glu)
c.282C>G (p.Asp94Glu)
c.-853C>G (n.-853C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101786085G=CA2058964815GNPTABc.498C= (p.Asp166=)
n.292C=
c.132C= (p.Asp44=)
c.417C= (p.Asp139=)
c.282C= (p.Asp94=)
c.-853C= (n.-853C=)
12g.101786085G>TCA386304925GNPTABc.498C>A (p.Asp166Glu)
n.292C>A
c.132C>A (p.Asp44Glu)
c.417C>A (p.Asp139Glu)
c.282C>A (p.Asp94Glu)
c.-853C>A (n.-853C>A)
12g.101786086T>ACA386304926GNPTABc.497A>T (p.Asp166Val)
n.291A>T
c.131A>T (p.Asp44Val)
c.416A>T (p.Asp139Val)
c.281A>T (p.Asp94Val)
c.-854A>T (n.-854A>T)
12g.101786086T>CCA386304927GNPTABc.497A>G (p.Asp166Gly)
n.291A>G
c.131A>G (p.Asp44Gly)
c.416A>G (p.Asp139Gly)
c.281A>G (p.Asp94Gly)
c.-854A>G (n.-854A>G)
12g.101786086T>GCA386304928GNPTABc.497A>C (p.Asp166Ala)
n.291A>C
c.131A>C (p.Asp44Ala)
c.416A>C (p.Asp139Ala)
c.281A>C (p.Asp94Ala)
c.-854A>C (n.-854A>C)
12g.101786087C>ACA386304929GNPTABc.496G>T (p.Asp166Tyr)
n.290G>T
c.130G>T (p.Asp44Tyr)
c.415G>T (p.Asp139Tyr)
c.280G>T (p.Asp94Tyr)
c.-855G>T (n.-855G>T)
12g.101786087C=CA2058964816GNPTABc.496G= (p.Asp166=)
n.290G=
c.130G= (p.Asp44=)
c.415G= (p.Asp139=)
c.280G= (p.Asp94=)
c.-855G= (n.-855G=)
12g.101786087C>GCA386304930GNPTABc.496G>C (p.Asp166His)
n.290G>C
c.130G>C (p.Asp44His)
c.415G>C (p.Asp139His)
c.280G>C (p.Asp94His)
c.-855G>C (n.-855G>C)
 dbSNP
12g.101786087C>TCA386304931GNPTABc.496G>A (p.Asp166Asn)
n.290G>A
c.130G>A (p.Asp44Asn)
c.415G>A (p.Asp139Asn)
c.280G>A (p.Asp94Asn)
c.-855G>A (n.-855G>A)
12g.101786088A>CCA386304932GNPTABc.495T>G (p.Ser165Arg)
n.289T>G
c.129T>G (p.Ser43Arg)
c.414T>G (p.Ser138Arg)
c.279T>G (p.Ser93Arg)
c.-856T>G (n.-856T>G)
12g.101786088A>GCA481326249GNPTABc.495T>C (p.Ser165=)
n.289T>C
c.129T>C (p.Ser43=)
c.414T>C (p.Ser138=)
c.279T>C (p.Ser93=)
c.-856T>C (n.-856T>C)
12g.101786088A>TCA386304933GNPTABc.495T>A (p.Ser165Arg)
n.289T>A
c.129T>A (p.Ser43Arg)
c.414T>A (p.Ser138Arg)
c.279T>A (p.Ser93Arg)
c.-856T>A (n.-856T>A)
12g.101786089C>ACA386304934GNPTABc.494G>T (p.Ser165Ile)
n.288G>T
c.128G>T (p.Ser43Ile)
c.413G>T (p.Ser138Ile)
c.278G>T (p.Ser93Ile)
c.-857G>T (n.-857G>T)
12g.101786089C=CA2058964817GNPTABc.494G= (p.Ser165=)
n.288G=
c.128G= (p.Ser43=)
c.413G= (p.Ser138=)
c.278G= (p.Ser93=)
c.-857G= (n.-857G=)
12g.101786089C>GCA386304935GNPTABc.494G>C (p.Ser165Thr)
n.288G>C
c.128G>C (p.Ser43Thr)
c.413G>C (p.Ser138Thr)
c.278G>C (p.Ser93Thr)
c.-857G>C (n.-857G>C)
 dbSNP
12g.101786089C>TCA386304936GNPTABc.494G>A (p.Ser165Asn)
n.288G>A
c.128G>A (p.Ser43Asn)
c.413G>A (p.Ser138Asn)
c.278G>A (p.Ser93Asn)
c.-857G>A (n.-857G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.101786090T>ACA386304938GNPTABc.493A>T (p.Ser165Cys)
n.287A>T
c.127A>T (p.Ser43Cys)
c.412A>T (p.Ser138Cys)
c.277A>T (p.Ser93Cys)
c.-858A>T (n.-858A>T)
12g.101786090T>CCA386304939GNPTABc.493A>G (p.Ser165Gly)
n.287A>G
c.127A>G (p.Ser43Gly)
c.412A>G (p.Ser138Gly)
c.277A>G (p.Ser93Gly)
c.-858A>G (n.-858A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101786090T>GCA386304937GNPTABc.493A>C (p.Ser165Arg)
n.287A>C
c.127A>C (p.Ser43Arg)
c.412A>C (p.Ser138Arg)
c.277A>C (p.Ser93Arg)
c.-858A>C (n.-858A>C)
12g.101786090T=CA2058964818GNPTABc.493A= (p.Ser165=)
n.287A=
c.127A= (p.Ser43=)
c.412A= (p.Ser138=)
c.277A= (p.Ser93=)
c.-858A= (n.-858A=)
12g.101786091G>ACA481326250GNPTABc.492C>T (p.Ala164=)
n.286C>T
c.126C>T (p.Ala42=)
c.411C>T (p.Ala137=)
c.276C>T (p.Ala92=)
c.-859C>T (n.-859C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.101786091G>CCA481326251GNPTABc.492C>G (p.Ala164=)
n.286C>G
c.126C>G (p.Ala42=)
c.411C>G (p.Ala137=)
c.276C>G (p.Ala92=)
c.-859C>G (n.-859C>G)
12g.101786091G=CA2058964819GNPTABc.492C= (p.Ala164=)
n.286C=
c.126C= (p.Ala42=)
c.411C= (p.Ala137=)
c.276C= (p.Ala92=)
c.-859C= (n.-859C=)
12g.101786091G>TCA481326252GNPTABc.492C>A (p.Ala164=)
n.286C>A
c.126C>A (p.Ala42=)
c.411C>A (p.Ala137=)
c.276C>A (p.Ala92=)
c.-859C>A (n.-859C>A)
12g.101786092G>ACA386304940GNPTABc.491C>T (p.Ala164Val)
n.285C>T
c.125C>T (p.Ala42Val)
c.410C>T (p.Ala137Val)
c.275C>T (p.Ala92Val)
c.-860C>T (n.-860C>T)
 dbSNP gnomAD v4
12g.101786092G>CCA386304941GNPTABc.491C>G (p.Ala164Gly)
n.285C>G
c.125C>G (p.Ala42Gly)
c.410C>G (p.Ala137Gly)
c.275C>G (p.Ala92Gly)
c.-860C>G (n.-860C>G)
12g.101786092G=CA2058964820GNPTABc.491C= (p.Ala164=)
n.285C=
c.125C= (p.Ala42=)
c.410C= (p.Ala137=)
c.275C= (p.Ala92=)
c.-860C= (n.-860C=)
12g.101786092G>TCA386304942GNPTABc.491C>A (p.Ala164Asp)
n.285C>A
c.125C>A (p.Ala42Asp)
c.410C>A (p.Ala137Asp)
c.275C>A (p.Ala92Asp)
c.-860C>A (n.-860C>A)
12g.101786093C>ACA386304943GNPTABc.490G>T (p.Ala164Ser)
n.284G>T
c.124G>T (p.Ala42Ser)
c.409G>T (p.Ala137Ser)
c.274G>T (p.Ala92Ser)
c.-861G>T (n.-861G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101786093C=CA2058964821GNPTABc.490G= (p.Ala164=)
n.284G=
c.124G= (p.Ala42=)
c.409G= (p.Ala137=)
c.274G= (p.Ala92=)
c.-861G= (n.-861G=)
12g.101786093C>GCA386304944GNPTABc.490G>C (p.Ala164Pro)
n.284G>C
c.124G>C (p.Ala42Pro)
c.409G>C (p.Ala137Pro)
c.274G>C (p.Ala92Pro)
c.-861G>C (n.-861G>C)
12g.101786093C>TCA386304945GNPTABc.490G>A (p.Ala164Thr)
n.284G>A
c.124G>A (p.Ala42Thr)
c.409G>A (p.Ala137Thr)
c.274G>A (p.Ala92Thr)
c.-861G>A (n.-861G>A)
 dbSNP
12g.101786094A>CCA481326254GNPTABc.489T>G (p.Ser163=)
n.283T>G
c.123T>G (p.Ser41=)
c.408T>G (p.Ser136=)
c.273T>G (p.Ser91=)
c.-862T>G (n.-862T>G)
 gnomAD v4
12g.101786094A>GCA481326255GNPTABc.489T>C (p.Ser163=)
n.283T>C
c.123T>C (p.Ser41=)
c.408T>C (p.Ser136=)
c.273T>C (p.Ser91=)
c.-862T>C (n.-862T>C)
12g.101786094A>TCA481326256GNPTABc.489T>A (p.Ser163=)
n.283T>A
c.123T>A (p.Ser41=)
c.408T>A (p.Ser136=)
c.273T>A (p.Ser91=)
c.-862T>A (n.-862T>A)
12g.101786095G>ACA386304946GNPTABc.488C>T (p.Ser163Phe)
n.282C>T
c.122C>T (p.Ser41Phe)
c.407C>T (p.Ser136Phe)
c.272C>T (p.Ser91Phe)
c.-863C>T (n.-863C>T)
12g.101786095G>CCA386304947GNPTABc.488C>G (p.Ser163Cys)
n.282C>G
c.122C>G (p.Ser41Cys)
c.407C>G (p.Ser136Cys)
c.272C>G (p.Ser91Cys)
c.-863C>G (n.-863C>G)
12g.101786095G>TCA386304948GNPTABc.488C>A (p.Ser163Tyr)
n.282C>A
c.122C>A (p.Ser41Tyr)
c.407C>A (p.Ser136Tyr)
c.272C>A (p.Ser91Tyr)
c.-863C>A (n.-863C>A)
12g.101786096A>CCA386304949GNPTABc.487T>G (p.Ser163Ala)
n.281T>G
c.121T>G (p.Ser41Ala)
c.406T>G (p.Ser136Ala)
c.271T>G (p.Ser91Ala)
c.-864T>G (n.-864T>G)
12g.101786096A>GCA386304950GNPTABc.487T>C (p.Ser163Pro)
n.281T>C
c.121T>C (p.Ser41Pro)
c.406T>C (p.Ser136Pro)
c.271T>C (p.Ser91Pro)
c.-864T>C (n.-864T>C)
12g.101786096A>TCA386304951GNPTABc.487T>A (p.Ser163Thr)
n.281T>A
c.121T>A (p.Ser41Thr)
c.406T>A (p.Ser136Thr)
c.271T>A (p.Ser91Thr)
c.-864T>A (n.-864T>A)
12g.101786097A>CCA386304953GNPTABc.486T>G (p.His162Gln)
n.280T>G
c.120T>G (p.His40Gln)
c.405T>G (p.His135Gln)
c.270T>G (p.His90Gln)
c.-865T>G (n.-865T>G)
12g.101786097A>GCA481326257GNPTABc.486T>C (p.His162=)
n.280T>C
c.120T>C (p.His40=)
c.405T>C (p.His135=)
c.270T>C (p.His90=)
c.-865T>C (n.-865T>C)
12g.101786097A>TCA386304952GNPTABc.486T>A (p.His162Gln)
n.280T>A
c.120T>A (p.His40Gln)
c.405T>A (p.His135Gln)
c.270T>A (p.His90Gln)
c.-865T>A (n.-865T>A)
12g.101786098T>ACA6746873GNPTABc.485A>T (p.His162Leu)
n.279A>T
c.119A>T (p.His40Leu)
c.404A>T (p.His135Leu)
c.269A>T (p.His90Leu)
c.-866A>T (n.-866A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101786098T>CCA386304954GNPTABc.485A>G (p.His162Arg)
n.279A>G
c.119A>G (p.His40Arg)
c.404A>G (p.His135Arg)
c.269A>G (p.His90Arg)
c.-866A>G (n.-866A>G)
 gnomAD v4
12g.101786098T>GCA386304955GNPTABc.485A>C (p.His162Pro)
n.279A>C
c.119A>C (p.His40Pro)
c.404A>C (p.His135Pro)
c.269A>C (p.His90Pro)
c.-866A>C (n.-866A>C)
12g.101786098T=CA2058964822GNPTABc.485A= (p.His162=)
n.279A=
c.119A= (p.His40=)
c.404A= (p.His135=)
c.269A= (p.His90=)
c.-866A= (n.-866A=)
12g.101786099delCA2580085646GNPTABc.484del (p.His162IlefsTer?)
n.278del
c.118del (p.His40IlefsTer?)
c.403del (p.His135IlefsTer?)
c.268del (p.His90IlefsTer?)
c.-867del (n.-867del)
 ClinVar
12g.101786099G>ACA386304956GNPTABc.484C>T (p.His162Tyr)
n.278C>T
c.118C>T (p.His40Tyr)
c.403C>T (p.His135Tyr)
c.268C>T (p.His90Tyr)
c.-867C>T (n.-867C>T)
12g.101786099G>CCA386304957GNPTABc.484C>G (p.His162Asp)
n.278C>G
c.118C>G (p.His40Asp)
c.403C>G (p.His135Asp)
c.268C>G (p.His90Asp)
c.-867C>G (n.-867C>G)
12g.101786099G>TCA386304958GNPTABc.484C>A (p.His162Asn)
n.278C>A
c.118C>A (p.His40Asn)
c.403C>A (p.His135Asn)
c.268C>A (p.His90Asn)
c.-867C>A (n.-867C>A)
12g.101786100A>CCA386304959GNPTABc.483T>G (p.Phe161Leu)
n.277T>G
c.117T>G (p.Phe39Leu)
c.402T>G (p.Phe134Leu)
c.267T>G (p.Phe89Leu)
c.-868T>G (n.-868T>G)
 gnomAD v4
12g.101786100A>GCA481326258GNPTABc.483T>C (p.Phe161=)
n.277T>C
c.117T>C (p.Phe39=)
c.402T>C (p.Phe134=)
c.267T>C (p.Phe89=)
c.-868T>C (n.-868T>C)
12g.101786100A>TCA386304960GNPTABc.483T>A (p.Phe161Leu)
n.277T>A
c.117T>A (p.Phe39Leu)
c.402T>A (p.Phe134Leu)
c.267T>A (p.Phe89Leu)
c.-868T>A (n.-868T>A)
12g.101786103delCA2573332474GNPTABc.483del (p.His162IlefsTer?)
n.277del
c.117del (p.His40IlefsTer?)
c.402del (p.His135IlefsTer?)
c.267del (p.His90IlefsTer?)
c.-868del (n.-868del)
12g.101786101A>CCA386304961GNPTABc.482T>G (p.Phe161Cys)
n.276T>G
c.116T>G (p.Phe39Cys)
c.401T>G (p.Phe134Cys)
c.266T>G (p.Phe89Cys)
c.-869T>G (n.-869T>G)
12g.101786101A>GCA386304962GNPTABc.482T>C (p.Phe161Ser)
n.276T>C
c.116T>C (p.Phe39Ser)
c.401T>C (p.Phe134Ser)
c.266T>C (p.Phe89Ser)
c.-869T>C (n.-869T>C)
12g.101786101A>TCA386304963GNPTABc.482T>A (p.Phe161Tyr)
n.276T>A
c.116T>A (p.Phe39Tyr)
c.401T>A (p.Phe134Tyr)
c.266T>A (p.Phe89Tyr)
c.-869T>A (n.-869T>A)
12g.101786102A>CCA386304964GNPTABc.481T>G (p.Phe161Val)
n.275T>G
c.115T>G (p.Phe39Val)
c.400T>G (p.Phe134Val)
c.265T>G (p.Phe89Val)
c.-870T>G (n.-870T>G)
12g.101786102A>GCA386304965GNPTABc.481T>C (p.Phe161Leu)
n.275T>C
c.115T>C (p.Phe39Leu)
c.400T>C (p.Phe134Leu)
c.265T>C (p.Phe89Leu)
c.-870T>C (n.-870T>C)
12g.101786102A>TCA386304966GNPTABc.481T>A (p.Phe161Ile)
n.275T>A
c.115T>A (p.Phe39Ile)
c.400T>A (p.Phe134Ile)
c.265T>A (p.Phe89Ile)
c.-870T>A (n.-870T>A)
12g.101786103A=CA2058964823GNPTABc.480T= (p.Ser160=)
n.274T=
c.114T= (p.Ser38=)
c.399T= (p.Ser133=)
c.264T= (p.Ser88=)
c.-871T= (n.-871T=)
12g.101786103A>CCA481326259GNPTABc.480T>G (p.Ser160=)
n.274T>G
c.114T>G (p.Ser38=)
c.399T>G (p.Ser133=)
c.264T>G (p.Ser88=)
c.-871T>G (n.-871T>G)
12g.101786103A>GCA481326260GNPTABc.480T>C (p.Ser160=)
n.274T>C
c.114T>C (p.Ser38=)
c.399T>C (p.Ser133=)
c.264T>C (p.Ser88=)
c.-871T>C (n.-871T>C)
 ClinVar dbSNP gnomAD v4
12g.101786103A>TCA481326261GNPTABc.480T>A (p.Ser160=)
n.274T>A
c.114T>A (p.Ser38=)
c.399T>A (p.Ser133=)
c.264T>A (p.Ser88=)
c.-871T>A (n.-871T>A)
12g.101786104G>ACA386304968GNPTABc.479C>T (p.Ser160Phe)
n.273C>T
c.113C>T (p.Ser38Phe)
c.398C>T (p.Ser133Phe)
c.263C>T (p.Ser88Phe)
c.-872C>T (n.-872C>T)
 gnomAD v4
12g.101786104G>CCA386304969GNPTABc.479C>G (p.Ser160Cys)
n.273C>G
c.113C>G (p.Ser38Cys)
c.398C>G (p.Ser133Cys)
c.263C>G (p.Ser88Cys)
c.-872C>G (n.-872C>G)
12g.101786104G>TCA386304967GNPTABc.479C>A (p.Ser160Tyr)
n.273C>A
c.113C>A (p.Ser38Tyr)
c.398C>A (p.Ser133Tyr)
c.263C>A (p.Ser88Tyr)
c.-872C>A (n.-872C>A)
12g.101786105A>CCA386304972GNPTABc.478T>G (p.Ser160Ala)
n.272T>G
c.112T>G (p.Ser38Ala)
c.397T>G (p.Ser133Ala)
c.262T>G (p.Ser88Ala)
c.-873T>G (n.-873T>G)
12g.101786105A>GCA386304970GNPTABc.478T>C (p.Ser160Pro)
n.272T>C
c.112T>C (p.Ser38Pro)
c.397T>C (p.Ser133Pro)
c.262T>C (p.Ser88Pro)
c.-873T>C (n.-873T>C)
12g.101786105A>TCA386304971GNPTABc.478T>A (p.Ser160Thr)
n.272T>A
c.112T>A (p.Ser38Thr)
c.397T>A (p.Ser133Thr)
c.262T>A (p.Ser88Thr)
c.-873T>A (n.-873T>A)
12g.101786106A=CA2058964824GNPTABc.477T= (p.Pro159=)
n.271T=
c.111T= (p.Pro37=)
c.396T= (p.Pro132=)
c.261T= (p.Pro87=)
c.-874T= (n.-874T=)
12g.101786106A>CCA481326262GNPTABc.477T>G (p.Pro159=)
n.271T>G
c.111T>G (p.Pro37=)
c.396T>G (p.Pro132=)
c.261T>G (p.Pro87=)
c.-874T>G (n.-874T>G)
12g.101786106A>GCA6746874GNPTABc.477T>C (p.Pro159=)
n.271T>C
c.111T>C (p.Pro37=)
c.396T>C (p.Pro132=)
c.261T>C (p.Pro87=)
c.-874T>C (n.-874T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101786106A>TCA481326263GNPTABc.477T>A (p.Pro159=)
n.271T>A
c.111T>A (p.Pro37=)
c.396T>A (p.Pro132=)
c.261T>A (p.Pro87=)
c.-874T>A (n.-874T>A)
 gnomAD v4
12g.101786107G>ACA386304973GNPTABc.476C>T (p.Pro159Leu)
n.270C>T
c.110C>T (p.Pro37Leu)
c.395C>T (p.Pro132Leu)
c.260C>T (p.Pro87Leu)
c.-875C>T (n.-875C>T)
12g.101786107G>CCA386304974GNPTABc.476C>G (p.Pro159Arg)
n.270C>G
c.110C>G (p.Pro37Arg)
c.395C>G (p.Pro132Arg)
c.260C>G (p.Pro87Arg)
c.-875C>G (n.-875C>G)
12g.101786107G>TCA386304975GNPTABc.476C>A (p.Pro159His)
n.270C>A
c.110C>A (p.Pro37His)
c.395C>A (p.Pro132His)
c.260C>A (p.Pro87His)
c.-875C>A (n.-875C>A)
12g.101786108G>ACA386304976GNPTABc.475C>T (p.Pro159Ser)
n.269C>T
c.109C>T (p.Pro37Ser)
c.394C>T (p.Pro132Ser)
c.259C>T (p.Pro87Ser)
c.-876C>T (n.-876C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101786108G>CCA386304977GNPTABc.475C>G (p.Pro159Ala)
n.269C>G
c.109C>G (p.Pro37Ala)
c.394C>G (p.Pro132Ala)
c.259C>G (p.Pro87Ala)
c.-876C>G (n.-876C>G)
 gnomAD v4
12g.101786108G=CA2058964825GNPTABc.475C= (p.Pro159=)
n.269C=
c.109C= (p.Pro37=)
c.394C= (p.Pro132=)
c.259C= (p.Pro87=)
c.-876C= (n.-876C=)
12g.101786108G>TCA386304978GNPTABc.475C>A (p.Pro159Thr)
n.269C>A
c.109C>A (p.Pro37Thr)
c.394C>A (p.Pro132Thr)
c.259C>A (p.Pro87Thr)
c.-876C>A (n.-876C>A)
12g.101786109A>CCA386304979GNPTABc.474T>G (p.Tyr158Ter)
n.268T>G
c.108T>G (p.Tyr36Ter)
c.393T>G (p.Tyr131Ter)
c.258T>G (p.Tyr86Ter)
c.-877T>G (n.-877T>G)
12g.101786109A>GCA481326264GNPTABc.474T>C (p.Tyr158=)
n.268T>C
c.108T>C (p.Tyr36=)
c.393T>C (p.Tyr131=)
c.258T>C (p.Tyr86=)
c.-877T>C (n.-877T>C)
12g.101786109A>TCA386304980GNPTABc.474T>A (p.Tyr158Ter)
n.268T>A
c.108T>A (p.Tyr36Ter)
c.393T>A (p.Tyr131Ter)
c.258T>A (p.Tyr86Ter)
c.-877T>A (n.-877T>A)
12g.101786110T>ACA386304982GNPTABc.473A>T (p.Tyr158Phe)
n.267A>T
c.107A>T (p.Tyr36Phe)
c.392A>T (p.Tyr131Phe)
c.257A>T (p.Tyr86Phe)
c.-878A>T (n.-878A>T)
12g.101786110T>CCA242473379GNPTABc.473A>G (p.Tyr158Cys)
n.267A>G
c.107A>G (p.Tyr36Cys)
c.392A>G (p.Tyr131Cys)
c.257A>G (p.Tyr86Cys)
c.-878A>G (n.-878A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101786110T>GCA386304981GNPTABc.473A>C (p.Tyr158Ser)
n.267A>C
c.107A>C (p.Tyr36Ser)
c.392A>C (p.Tyr131Ser)
c.257A>C (p.Tyr86Ser)
c.-878A>C (n.-878A>C)
12g.101786110T=CA2058964826GNPTABc.473A= (p.Tyr158=)
n.267A=
c.107A= (p.Tyr36=)
c.392A= (p.Tyr131=)
c.257A= (p.Tyr86=)
c.-878A= (n.-878A=)
12g.101786111A>CCA386304983GNPTABc.472T>G (p.Tyr158Asp)
n.266T>G
c.106T>G (p.Tyr36Asp)
c.391T>G (p.Tyr131Asp)
c.256T>G (p.Tyr86Asp)
c.-879T>G (n.-879T>G)
12g.101786111A>GCA386304984GNPTABc.472T>C (p.Tyr158His)
n.266T>C
c.106T>C (p.Tyr36His)
c.391T>C (p.Tyr131His)
c.256T>C (p.Tyr86His)
c.-879T>C (n.-879T>C)
12g.101786111A>TCA386304985GNPTABc.472T>A (p.Tyr158Asn)
n.266T>A
c.106T>A (p.Tyr36Asn)
c.391T>A (p.Tyr131Asn)
c.256T>A (p.Tyr86Asn)
c.-879T>A (n.-879T>A)
12g.101786112_101786113delCA2695217348GNPTABc.471_472del (p.Tyr158SerfsTer8)
n.265_266del
c.105_106del (p.Tyr36SerfsTer8)
c.390_391del (p.Tyr131SerfsTer8)
c.255_256del (p.Tyr86SerfsTer8)
c.-880_-879del (n.-880_-879del)
12g.101786112A>CCA481326265GNPTABc.471T>G (p.Leu157=)
n.265T>G
c.105T>G (p.Leu35=)
c.390T>G (p.Leu130=)
c.255T>G (p.Leu85=)
c.-880T>G (n.-880T>G)
 gnomAD v4
12g.101786112A>GCA481326266GNPTABc.471T>C (p.Leu157=)
n.265T>C
c.105T>C (p.Leu35=)
c.390T>C (p.Leu130=)
c.255T>C (p.Leu85=)
c.-880T>C (n.-880T>C)
 gnomAD v4
12g.101786112A>TCA481326267GNPTABc.471T>A (p.Leu157=)
n.265T>A
c.105T>A (p.Leu35=)
c.390T>A (p.Leu130=)
c.255T>A (p.Leu85=)
c.-880T>A (n.-880T>A)
12g.101786113A=CA2058964827GNPTABc.470T= (p.Leu157=)
n.264T=
c.104T= (p.Leu35=)
c.389T= (p.Leu130=)
c.254T= (p.Leu85=)
c.-881T= (n.-881T=)
12g.101786113A>CCA386304986GNPTABc.470T>G (p.Leu157Arg)
n.264T>G
c.104T>G (p.Leu35Arg)
c.389T>G (p.Leu130Arg)
c.254T>G (p.Leu85Arg)
c.-881T>G (n.-881T>G)
12g.101786113A>GCA242473380GNPTABc.470T>C (p.Leu157Pro)
n.264T>C
c.104T>C (p.Leu35Pro)
c.389T>C (p.Leu130Pro)
c.254T>C (p.Leu85Pro)
c.-881T>C (n.-881T>C)
 dbSNP gnomAD v3 gnomAD v4
12g.101786113A>TCA386304987GNPTABc.470T>A (p.Leu157His)
n.264T>A
c.104T>A (p.Leu35His)
c.389T>A (p.Leu130His)
c.254T>A (p.Leu85His)
c.-881T>A (n.-881T>A)
12g.101786114G>ACA386304988GNPTABc.469C>T (p.Leu157Phe)
n.263C>T
c.103C>T (p.Leu35Phe)
c.388C>T (p.Leu130Phe)
c.253C>T (p.Leu85Phe)
c.-882C>T (n.-882C>T)
12g.101786114G>CCA386304989GNPTABc.469C>G (p.Leu157Val)
n.263C>G
c.103C>G (p.Leu35Val)
c.388C>G (p.Leu130Val)
c.253C>G (p.Leu85Val)
c.-882C>G (n.-882C>G)
12g.101786114G>TCA386304990GNPTABc.469C>A (p.Leu157Ile)
n.263C>A
c.103C>A (p.Leu35Ile)
c.388C>A (p.Leu130Ile)
c.253C>A (p.Leu85Ile)
c.-882C>A (n.-882C>A)
12g.101786115A=CA2058964828GNPTABc.468T= (p.Ser156=)
n.262T=
c.102T= (p.Ser34=)
c.387T= (p.Ser129=)
c.252T= (p.Ser84=)
c.-883T= (n.-883T=)
12g.101786115A>CCA481326268GNPTABc.468T>G (p.Ser156=)
n.262T>G
c.102T>G (p.Ser34=)
c.387T>G (p.Ser129=)
c.252T>G (p.Ser84=)
c.-883T>G (n.-883T>G)
12g.101786115A>GCA481326269GNPTABc.468T>C (p.Ser156=)
n.262T>C
c.102T>C (p.Ser34=)
c.387T>C (p.Ser129=)
c.252T>C (p.Ser84=)
c.-883T>C (n.-883T>C)
12g.101786115A>TCA481326270GNPTABc.468T>A (p.Ser156=)
n.262T>A
c.102T>A (p.Ser34=)
c.387T>A (p.Ser129=)
c.252T>A (p.Ser84=)
c.-883T>A (n.-883T>A)
 dbSNP gnomAD v3 gnomAD v4
12g.101786116G>ACA386304991GNPTABc.467C>T (p.Ser156Phe)
n.261C>T
c.101C>T (p.Ser34Phe)
c.386C>T (p.Ser129Phe)
c.251C>T (p.Ser84Phe)
c.-884C>T (n.-884C>T)
12g.101786116G>CCA386304992GNPTABc.467C>G (p.Ser156Cys)
n.261C>G
c.101C>G (p.Ser34Cys)
c.386C>G (p.Ser129Cys)
c.251C>G (p.Ser84Cys)
c.-884C>G (n.-884C>G)
12g.101786116G>TCA386304993GNPTABc.467C>A (p.Ser156Tyr)
n.261C>A
c.101C>A (p.Ser34Tyr)
c.386C>A (p.Ser129Tyr)
c.251C>A (p.Ser84Tyr)
c.-884C>A (n.-884C>A)
12g.101786117A=CA2058964829GNPTABc.466T= (p.Ser156=)
n.260T=
c.100T= (p.Ser34=)
c.385T= (p.Ser129=)
c.250T= (p.Ser84=)
c.-885T= (n.-885T=)
12g.101786117A>CCA386304995GNPTABc.466T>G (p.Ser156Ala)
n.260T>G
c.100T>G (p.Ser34Ala)
c.385T>G (p.Ser129Ala)
c.250T>G (p.Ser84Ala)
c.-885T>G (n.-885T>G)
 gnomAD v4
12g.101786117A>GCA6746875GNPTABc.466T>C (p.Ser156Pro)
n.260T>C
c.100T>C (p.Ser34Pro)
c.385T>C (p.Ser129Pro)
c.250T>C (p.Ser84Pro)
c.-885T>C (n.-885T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101786117A>TCA386304994GNPTABc.466T>A (p.Ser156Thr)
n.260T>A
c.100T>A (p.Ser34Thr)
c.385T>A (p.Ser129Thr)
c.250T>A (p.Ser84Thr)
c.-885T>A (n.-885T>A)
12g.101786118T>ACA481326271GNPTABc.465A>T (p.Pro155=)
n.259A>T
c.99A>T (p.Pro33=)
c.384A>T (p.Pro128=)
c.249A>T (p.Pro83=)
c.-886A>T (n.-886A>T)
12g.101786118T>CCA481326272GNPTABc.465A>G (p.Pro155=)
n.259A>G
c.99A>G (p.Pro33=)
c.384A>G (p.Pro128=)
c.249A>G (p.Pro83=)
c.-886A>G (n.-886A>G)
 ClinVar dbSNP gnomAD v4
12g.101786118T>GCA481326273GNPTABc.465A>C (p.Pro155=)
n.259A>C
c.99A>C (p.Pro33=)
c.384A>C (p.Pro128=)
c.249A>C (p.Pro83=)
c.-886A>C (n.-886A>C)
12g.101786118T=CA2058964830GNPTABc.465A= (p.Pro155=)
n.259A=
c.99A= (p.Pro33=)
c.384A= (p.Pro128=)
c.249A= (p.Pro83=)
c.-886A= (n.-886A=)
12g.101786119G>ACA386304996GNPTABc.464C>T (p.Pro155Leu)
n.258C>T
c.98C>T (p.Pro33Leu)
c.383C>T (p.Pro128Leu)
c.248C>T (p.Pro83Leu)
c.-887C>T (n.-887C>T)
 gnomAD v4
12g.101786119G>CCA386304997GNPTABc.464C>G (p.Pro155Arg)
n.258C>G
c.98C>G (p.Pro33Arg)
c.383C>G (p.Pro128Arg)
c.248C>G (p.Pro83Arg)
c.-887C>G (n.-887C>G)
12g.101786119G>TCA386304998GNPTABc.464C>A (p.Pro155Gln)
n.258C>A
c.98C>A (p.Pro33Gln)
c.383C>A (p.Pro128Gln)
c.248C>A (p.Pro83Gln)
c.-887C>A (n.-887C>A)
12g.101786120G>ACA386304999GNPTABc.463C>T (p.Pro155Ser)
n.257C>T
c.97C>T (p.Pro33Ser)
c.382C>T (p.Pro128Ser)
c.247C>T (p.Pro83Ser)
c.-888C>T (n.-888C>T)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.101786120G>CCA386305000GNPTABc.463C>G (p.Pro155Ala)
n.257C>G
c.97C>G (p.Pro33Ala)
c.382C>G (p.Pro128Ala)
c.247C>G (p.Pro83Ala)
c.-888C>G (n.-888C>G)
12g.101786120G=CA2058964831GNPTABc.463C= (p.Pro155=)
n.257C=
c.97C= (p.Pro33=)
c.382C= (p.Pro128=)
c.247C= (p.Pro83=)
c.-888C= (n.-888C=)
12g.101786120G>TCA386305001GNPTABc.463C>A (p.Pro155Thr)
n.257C>A
c.97C>A (p.Pro33Thr)
c.382C>A (p.Pro128Thr)
c.247C>A (p.Pro83Thr)
c.-888C>A (n.-888C>A)
12g.101786121C>ACA481326274GNPTABc.462G>T (p.Leu154=)
n.256G>T
c.96G>T (p.Leu32=)
c.381G>T (p.Leu127=)
c.246G>T (p.Leu82=)
c.-889G>T (n.-889G>T)
12g.101786121C>GCA481326275GNPTABc.462G>C (p.Leu154=)
n.256G>C
c.96G>C (p.Leu32=)
c.381G>C (p.Leu127=)
c.246G>C (p.Leu82=)
c.-889G>C (n.-889G>C)
 ClinVar gnomAD v4
12g.101786121C>TCA481326276GNPTABc.462G>A (p.Leu154=)
n.256G>A
c.96G>A (p.Leu32=)
c.381G>A (p.Leu127=)
c.246G>A (p.Leu82=)
c.-889G>A (n.-889G>A)
 ClinVar dbSNP
12g.101786122A>CCA386305002GNPTABc.461T>G (p.Leu154Arg)
n.255T>G
c.95T>G (p.Leu32Arg)
c.380T>G (p.Leu127Arg)
c.245T>G (p.Leu82Arg)
c.-890T>G (n.-890T>G)
12g.101786122A>GCA386305003GNPTABc.461T>C (p.Leu154Pro)
n.255T>C
c.95T>C (p.Leu32Pro)
c.380T>C (p.Leu127Pro)
c.245T>C (p.Leu82Pro)
c.-890T>C (n.-890T>C)
12g.101786122A>TCA386305004GNPTABc.461T>A (p.Leu154Gln)
n.255T>A
c.95T>A (p.Leu32Gln)
c.380T>A (p.Leu127Gln)
c.245T>A (p.Leu82Gln)
c.-890T>A (n.-890T>A)
12g.101786123G>ACA242473381GNPTABc.460C>T (p.Leu154=)
n.254C>T
c.94C>T (p.Leu32=)
c.379C>T (p.Leu127=)
c.244C>T (p.Leu82=)
c.-891C>T (n.-891C>T)
 dbSNP
12g.101786123G>CCA386305005GNPTABc.460C>G (p.Leu154Val)
n.254C>G
c.94C>G (p.Leu32Val)
c.379C>G (p.Leu127Val)
c.244C>G (p.Leu82Val)
c.-891C>G (n.-891C>G)
 dbSNP gnomAD v2 gnomAD v4
12g.101786123G=CA2058964832GNPTABc.460C= (p.Leu154=)
n.254C=
c.94C= (p.Leu32=)
c.379C= (p.Leu127=)
c.244C= (p.Leu82=)
c.-891C= (n.-891C=)
12g.101786123G>TCA386305006GNPTABc.460C>A (p.Leu154Met)
n.254C>A
c.94C>A (p.Leu32Met)
c.379C>A (p.Leu127Met)
c.244C>A (p.Leu82Met)
c.-891C>A (n.-891C>A)
12g.101786124G>ACA481326277GNPTABc.459C>T (p.Asp153=)
n.253C>T
c.93C>T (p.Asp31=)
c.378C>T (p.Asp126=)
c.243C>T (p.Asp81=)
c.-892C>T (n.-892C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101786124G>CCA386305007GNPTABc.459C>G (p.Asp153Glu)
n.253C>G
c.93C>G (p.Asp31Glu)
c.378C>G (p.Asp126Glu)
c.243C>G (p.Asp81Glu)
c.-892C>G (n.-892C>G)
12g.101786124G=CA2058964833GNPTABc.459C= (p.Asp153=)
n.253C=
c.93C= (p.Asp31=)
c.378C= (p.Asp126=)
c.243C= (p.Asp81=)
c.-892C= (n.-892C=)
12g.101786124G>TCA6746876GNPTABc.459C>A (p.Asp153Glu)
n.253C>A
c.93C>A (p.Asp31Glu)
c.378C>A (p.Asp126Glu)
c.243C>A (p.Asp81Glu)
c.-892C>A (n.-892C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.101786125T>ACA386305010GNPTABc.458A>T (p.Asp153Val)
n.252A>T
c.92A>T (p.Asp31Val)
c.377A>T (p.Asp126Val)
c.242A>T (p.Asp81Val)
c.-893A>T (n.-893A>T)
12g.101786125T>CCA386305009GNPTABc.458A>G (p.Asp153Gly)
n.252A>G
c.92A>G (p.Asp31Gly)
c.377A>G (p.Asp126Gly)
c.242A>G (p.Asp81Gly)
c.-893A>G (n.-893A>G)
 gnomAD v4
12g.101786125T>GCA386305008GNPTABc.458A>C (p.Asp153Ala)
n.252A>C
c.92A>C (p.Asp31Ala)
c.377A>C (p.Asp126Ala)
c.242A>C (p.Asp81Ala)
c.-893A>C (n.-893A>C)
 dbSNP
12g.101786125T=CA2058964834GNPTABc.458A= (p.Asp153=)
n.252A=
c.92A= (p.Asp31=)
c.377A= (p.Asp126=)
c.242A= (p.Asp81=)
c.-893A= (n.-893A=)
12g.101786126C>ACA386305011GNPTABc.457G>T (p.Asp153Tyr)
n.251G>T
c.91G>T (p.Asp31Tyr)
c.376G>T (p.Asp126Tyr)
c.241G>T (p.Asp81Tyr)
c.-894G>T (n.-894G>T)
12g.101786126C=CA2058964835GNPTABc.457G= (p.Asp153=)
n.251G=
c.91G= (p.Asp31=)
c.376G= (p.Asp126=)
c.241G= (p.Asp81=)
c.-894G= (n.-894G=)
12g.101786126C>GCA386305012GNPTABc.457G>C (p.Asp153His)
n.251G>C
c.91G>C (p.Asp31His)
c.376G>C (p.Asp126His)
c.241G>C (p.Asp81His)
c.-894G>C (n.-894G>C)
12g.101786126C>TCA10640664GNPTABc.457G>A (p.Asp153Asn)
n.251G>A
c.91G>A (p.Asp31Asn)
c.376G>A (p.Asp126Asn)
c.241G>A (p.Asp81Asn)
c.-894G>A (n.-894G>A)
 ClinVar dbSNP gnomAD v4
12g.101786127C>ACA386305013GNPTABc.456G>T (p.Lys152Asn)
n.250G>T
c.90G>T (p.Lys30Asn)
c.375G>T (p.Lys125Asn)
c.240G>T (p.Lys80Asn)
c.-895G>T (n.-895G>T)
12g.101786127C>GCA386305014GNPTABc.456G>C (p.Lys152Asn)
n.250G>C
c.90G>C (p.Lys30Asn)
c.375G>C (p.Lys125Asn)
c.240G>C (p.Lys80Asn)
c.-895G>C (n.-895G>C)
12g.101786127C>TCA481326278GNPTABc.456G>A (p.Lys152=)
n.250G>A
c.90G>A (p.Lys30=)
c.375G>A (p.Lys125=)
c.240G>A (p.Lys80=)
c.-895G>A (n.-895G>A)
12g.101786128T>ACA386305015GNPTABc.455A>T (p.Lys152Met)
n.249A>T
c.89A>T (p.Lys30Met)
c.374A>T (p.Lys125Met)
c.239A>T (p.Lys80Met)
c.-896A>T (n.-896A>T)
12g.101786128T>CCA386305016GNPTABc.455A>G (p.Lys152Arg)
n.249A>G
c.89A>G (p.Lys30Arg)
c.374A>G (p.Lys125Arg)
c.239A>G (p.Lys80Arg)
c.-896A>G (n.-896A>G)
12g.101786128T>GCA386305017GNPTABc.455A>C (p.Lys152Thr)
n.249A>C
c.89A>C (p.Lys30Thr)
c.374A>C (p.Lys125Thr)
c.239A>C (p.Lys80Thr)
c.-896A>C (n.-896A>C)
12g.101786129T>ACA386305018GNPTABc.454A>T (p.Lys152Ter)
n.248A>T
c.88A>T (p.Lys30Ter)
c.373A>T (p.Lys125Ter)
c.238A>T (p.Lys80Ter)
c.-897A>T (n.-897A>T)
12g.101786129T>CCA386305019GNPTABc.454A>G (p.Lys152Glu)
n.248A>G
c.88A>G (p.Lys30Glu)
c.373A>G (p.Lys125Glu)
c.238A>G (p.Lys80Glu)
c.-897A>G (n.-897A>G)
12g.101786129T>GCA386305020GNPTABc.454A>C (p.Lys152Gln)
n.248A>C
c.88A>C (p.Lys30Gln)
c.373A>C (p.Lys125Gln)
c.238A>C (p.Lys80Gln)
c.-897A>C (n.-897A>C)
12g.101786130C>ACA481326279GNPTABc.453G>T (p.Leu151=)
n.247G>T
c.87G>T (p.Leu29=)
c.372G>T (p.Leu124=)
c.237G>T (p.Leu79=)
c.-898G>T (n.-898G>T)
12g.101786130C>GCA481326280GNPTABc.453G>C (p.Leu151=)
n.247G>C
c.87G>C (p.Leu29=)
c.372G>C (p.Leu124=)
c.237G>C (p.Leu79=)
c.-898G>C (n.-898G>C)
12g.101786130C>TCA481326281GNPTABc.453G>A (p.Leu151=)
n.247G>A
c.87G>A (p.Leu29=)
c.372G>A (p.Leu124=)
c.237G>A (p.Leu79=)
c.-898G>A (n.-898G>A)
12g.101786131A=CA2058964836GNPTABc.452T= (p.Leu151=)
n.246T=
c.86T= (p.Leu29=)
c.371T= (p.Leu124=)
c.236T= (p.Leu79=)
c.-899T= (n.-899T=)
12g.101786131A>CCA6746877GNPTABc.452T>G (p.Leu151Arg)
n.246T>G
c.86T>G (p.Leu29Arg)
c.371T>G (p.Leu124Arg)
c.236T>G (p.Leu79Arg)
c.-899T>G (n.-899T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101786131A>GCA386305021GNPTABc.452T>C (p.Leu151Pro)
n.246T>C
c.86T>C (p.Leu29Pro)
c.371T>C (p.Leu124Pro)
c.236T>C (p.Leu79Pro)
c.-899T>C (n.-899T>C)
12g.101786131A>TCA386305022GNPTABc.452T>A (p.Leu151Gln)
n.246T>A
c.86T>A (p.Leu29Gln)
c.371T>A (p.Leu124Gln)
c.236T>A (p.Leu79Gln)
c.-899T>A (n.-899T>A)
12g.101786132G>ACA481326282GNPTABc.451C>T (p.Leu151=)
n.245C>T
c.85C>T (p.Leu29=)
c.370C>T (p.Leu124=)
c.235C>T (p.Leu79=)
c.-900C>T (n.-900C>T)
 ClinVar dbSNP
12g.101786132G>CCA242473409GNPTABc.451C>G (p.Leu151Val)
n.245C>G
c.85C>G (p.Leu29Val)
c.370C>G (p.Leu124Val)
c.235C>G (p.Leu79Val)
c.-900C>G (n.-900C>G)
 dbSNP gnomAD v3 gnomAD v4
12g.101786132G=CA2058964837GNPTABc.451C= (p.Leu151=)
n.245C=
c.85C= (p.Leu29=)
c.370C= (p.Leu124=)
c.235C= (p.Leu79=)
c.-900C= (n.-900C=)
12g.101786132G>TCA386305023GNPTABc.451C>A (p.Leu151Met)
n.245C>A
c.85C>A (p.Leu29Met)
c.370C>A (p.Leu124Met)
c.235C>A (p.Leu79Met)
c.-900C>A (n.-900C>A)
12g.101786133G>ACA481326283GNPTABc.450C>T (p.Thr150=)
n.244C>T
c.84C>T (p.Thr28=)
c.369C>T (p.Thr123=)
c.234C>T (p.Thr78=)
c.-901C>T (n.-901C>T)
12g.101786133G>CCA481326284GNPTABc.450C>G (p.Thr150=)
n.244C>G
c.84C>G (p.Thr28=)
c.369C>G (p.Thr123=)
c.234C>G (p.Thr78=)
c.-901C>G (n.-901C>G)
12g.101786133G>TCA481326285GNPTABc.450C>A (p.Thr150=)
n.244C>A
c.84C>A (p.Thr28=)
c.369C>A (p.Thr123=)
c.234C>A (p.Thr78=)
c.-901C>A (n.-901C>A)
12g.101786134G>ACA386305024GNPTABc.449C>T (p.Thr150Ile)
n.243C>T
c.83C>T (p.Thr28Ile)
c.368C>T (p.Thr123Ile)
c.233C>T (p.Thr78Ile)
c.-902C>T (n.-902C>T)
 gnomAD v4
12g.101786134G>CCA386305026GNPTABc.449C>G (p.Thr150Ser)
n.243C>G
c.83C>G (p.Thr28Ser)
c.368C>G (p.Thr123Ser)
c.233C>G (p.Thr78Ser)
c.-902C>G (n.-902C>G)
12g.101786134G>TCA386305025GNPTABc.449C>A (p.Thr150Asn)
n.243C>A
c.83C>A (p.Thr28Asn)
c.368C>A (p.Thr123Asn)
c.233C>A (p.Thr78Asn)
c.-902C>A (n.-902C>A)
12g.101786135T>ACA386305027GNPTABc.448A>T (p.Thr150Ser)
n.242A>T
c.82A>T (p.Thr28Ser)
c.367A>T (p.Thr123Ser)
c.232A>T (p.Thr78Ser)
c.-903A>T (n.-903A>T)
12g.101786135T>CCA386305029GNPTABc.448A>G (p.Thr150Ala)
n.242A>G
c.82A>G (p.Thr28Ala)
c.367A>G (p.Thr123Ala)
c.232A>G (p.Thr78Ala)
c.-903A>G (n.-903A>G)
12g.101786135T>GCA386305028GNPTABc.448A>C (p.Thr150Pro)
n.242A>C
c.82A>C (p.Thr28Pro)
c.367A>C (p.Thr123Pro)
c.232A>C (p.Thr78Pro)
c.-903A>C (n.-903A>C)
 dbSNP
12g.101786135T=CA2058964838GNPTABc.448A= (p.Thr150=)
n.242A=
c.82A= (p.Thr28=)
c.367A= (p.Thr123=)
c.232A= (p.Thr78=)
c.-903A= (n.-903A=)
12g.101786136G>ACA481326286GNPTABc.447C>T (p.Ile149=)
n.241C>T
c.81C>T (p.Ile27=)
c.366C>T (p.Ile122=)
c.231C>T (p.Ile77=)
c.-904C>T (n.-904C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.101786136G>CCA386305030GNPTABc.447C>G (p.Ile149Met)
n.241C>G
c.81C>G (p.Ile27Met)
c.366C>G (p.Ile122Met)
c.231C>G (p.Ile77Met)
c.-904C>G (n.-904C>G)
12g.101786136G=CA2058964839GNPTABc.447C= (p.Ile149=)
n.241C=
c.81C= (p.Ile27=)
c.366C= (p.Ile122=)
c.231C= (p.Ile77=)
c.-904C= (n.-904C=)
12g.101786136G>TCA481326287GNPTABc.447C>A (p.Ile149=)
n.241C>A
c.81C>A (p.Ile27=)
c.366C>A (p.Ile122=)
c.231C>A (p.Ile77=)
c.-904C>A (n.-904C>A)
 gnomAD v4
12g.101786137A>CCA386305031GNPTABc.446T>G (p.Ile149Ser)
n.240T>G
c.80T>G (p.Ile27Ser)
c.365T>G (p.Ile122Ser)
c.230T>G (p.Ile77Ser)
c.-905T>G (n.-905T>G)
12g.101786137A>GCA386305032GNPTABc.446T>C (p.Ile149Thr)
n.240T>C
c.80T>C (p.Ile27Thr)
c.365T>C (p.Ile122Thr)
c.230T>C (p.Ile77Thr)
c.-905T>C (n.-905T>C)
12g.101786137A>TCA386305033GNPTABc.446T>A (p.Ile149Asn)
n.240T>A
c.80T>A (p.Ile27Asn)
c.365T>A (p.Ile122Asn)
c.230T>A (p.Ile77Asn)
c.-905T>A (n.-905T>A)
12g.101786138T>ACA6746878GNPTABc.445A>T (p.Ile149Phe)
n.239A>T
c.79A>T (p.Ile27Phe)
c.364A>T (p.Ile122Phe)
c.229A>T (p.Ile77Phe)
c.-906A>T (n.-906A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101786138T>CCA386305034GNPTABc.445A>G (p.Ile149Val)
n.239A>G
c.79A>G (p.Ile27Val)
c.364A>G (p.Ile122Val)
c.229A>G (p.Ile77Val)
c.-906A>G (n.-906A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101786138T>GCA386305035GNPTABc.445A>C (p.Ile149Leu)
n.239A>C
c.79A>C (p.Ile27Leu)
c.364A>C (p.Ile122Leu)
c.229A>C (p.Ile77Leu)
c.-906A>C (n.-906A>C)
12g.101786138T=CA2058964840GNPTABc.445A= (p.Ile149=)
n.239A=
c.79A= (p.Ile27=)
c.364A= (p.Ile122=)
c.229A= (p.Ile77=)
c.-906A= (n.-906A=)
12g.101786139G>ACA481326288GNPTABc.444C>T (p.Asn148=)
n.238C>T
c.78C>T (p.Asn26=)
c.363C>T (p.Asn121=)
c.228C>T (p.Asn76=)
c.-907C>T (n.-907C>T)
12g.101786139G>CCA386305036GNPTABc.444C>G (p.Asn148Lys)
n.238C>G
c.78C>G (p.Asn26Lys)
c.363C>G (p.Asn121Lys)
c.228C>G (p.Asn76Lys)
c.-907C>G (n.-907C>G)
12g.101786139G>TCA386305037GNPTABc.444C>A (p.Asn148Lys)
n.238C>A
c.78C>A (p.Asn26Lys)
c.363C>A (p.Asn121Lys)
c.228C>A (p.Asn76Lys)
c.-907C>A (n.-907C>A)
12g.101786140T>ACA386305040GNPTABc.443A>T (p.Asn148Ile)
n.237A>T
c.77A>T (p.Asn26Ile)
c.362A>T (p.Asn121Ile)
c.227A>T (p.Asn76Ile)
c.-908A>T (n.-908A>T)
12g.101786140T>CCA386305039GNPTABc.443A>G (p.Asn148Ser)
n.237A>G
c.77A>G (p.Asn26Ser)
c.362A>G (p.Asn121Ser)
c.227A>G (p.Asn76Ser)
c.-908A>G (n.-908A>G)
 gnomAD v4
12g.101786140T>GCA386305038GNPTABc.443A>C (p.Asn148Thr)
n.237A>C
c.77A>C (p.Asn26Thr)
c.362A>C (p.Asn121Thr)
c.227A>C (p.Asn76Thr)
c.-908A>C (n.-908A>C)
 gnomAD v4
12g.101786141T>ACA386305041GNPTABc.442A>T (p.Asn148Tyr)
n.236A>T
c.76A>T (p.Asn26Tyr)
c.361A>T (p.Asn121Tyr)
c.226A>T (p.Asn76Tyr)
c.-909A>T (n.-909A>T)
12g.101786141T>CCA386305042GNPTABc.442A>G (p.Asn148Asp)
n.236A>G
c.76A>G (p.Asn26Asp)
c.361A>G (p.Asn121Asp)
c.226A>G (p.Asn76Asp)
c.-909A>G (n.-909A>G)
 dbSNP
12g.101786141T>GCA386305043GNPTABc.442A>C (p.Asn148His)
n.236A>C
c.76A>C (p.Asn26His)
c.361A>C (p.Asn121His)
c.226A>C (p.Asn76His)
c.-909A>C (n.-909A>C)
12g.101786141T=CA2058964842GNPTABc.442A= (p.Asn148=)
n.236A=
c.76A= (p.Asn26=)
c.361A= (p.Asn121=)
c.226A= (p.Asn76=)
c.-909A= (n.-909A=)
12g.101786141_101786142delinsTGCA2058964841GNPTABc.441_442delinsCA (p.Ala147=)
n.235_236delinsCA
c.75_76delinsCA (p.Ala25=)
c.360_361delinsCA (p.Ala120=)
c.225_226delinsCA (p.Ala75=)
c.-910_-909delinsCA (n.-910_-909delinsCA)
12g.101786142G>ACA481326289GNPTABc.441C>T (p.Ala147=)
n.235C>T
c.75C>T (p.Ala25=)
c.360C>T (p.Ala120=)
c.225C>T (p.Ala75=)
c.-910C>T (n.-910C>T)
12g.101786142G>CCA481326290GNPTABc.441C>G (p.Ala147=)
n.235C>G
c.75C>G (p.Ala25=)
c.360C>G (p.Ala120=)
c.225C>G (p.Ala75=)
c.-910C>G (n.-910C>G)
12g.101786142G>TCA481326291GNPTABc.441C>A (p.Ala147=)
n.235C>A
c.75C>A (p.Ala25=)
c.360C>A (p.Ala120=)
c.225C>A (p.Ala75=)
c.-910C>A (n.-910C>A)
 ClinVar
12g.101786143delCA343405GNPTABc.441del (p.Asn148ThrfsTer4)
n.235del
c.75del (p.Asn26ThrfsTer4)
c.360del (p.Asn121ThrfsTer4)
c.225del (p.Asn76ThrfsTer4)
c.-910del (n.-910del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched