| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101786120G>A | CA386304999 | GNPTAB | c.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 |
| 12 | g.101786120G>C | CA386305000 | GNPTAB | c.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) | |
| 12 | g.101786120G= | CA2058964831 | GNPTAB | c.463C= (p.Pro155=) n.257C= c.97C= (p.Pro33=) c.382C= (p.Pro128=) c.247C= (p.Pro83=) c.-888C= (n.-888C=) | |
| 12 | g.101786120G>T | CA386305001 | GNPTAB | c.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) | |
| 12 | g.101786121C>A | CA481326274 | GNPTAB | c.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) | |
| 12 | g.101786121C>G | CA481326275 | GNPTAB | c.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 |
| 12 | g.101786121C>T | CA481326276 | GNPTAB | c.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 |
| 12 | g.101786122A>C | CA386305002 | GNPTAB | c.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) | |
| 12 | g.101786122A>G | CA386305003 | GNPTAB | c.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) | |
| 12 | g.101786122A>T | CA386305004 | GNPTAB | c.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) | |
| 12 | g.101786123G>A | CA242473381 | GNPTAB | c.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 |
| 12 | g.101786123G>C | CA386305005 | GNPTAB | c.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 |
| 12 | g.101786123G= | CA2058964832 | GNPTAB | c.460C= (p.Leu154=) n.254C= c.94C= (p.Leu32=) c.379C= (p.Leu127=) c.244C= (p.Leu82=) c.-891C= (n.-891C=) | |
| 12 | g.101786123G>T | CA386305006 | GNPTAB | c.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) | |
| 12 | g.101786124G>A | CA481326277 | GNPTAB | c.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 |
| 12 | g.101786124G>C | CA386305007 | GNPTAB | c.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) | |
| 12 | g.101786124G= | CA2058964833 | GNPTAB | c.459C= (p.Asp153=) n.253C= c.93C= (p.Asp31=) c.378C= (p.Asp126=) c.243C= (p.Asp81=) c.-892C= (n.-892C=) | |
| 12 | g.101786124G>T | CA6746876 | GNPTAB | c.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 |
| 12 | g.101786125T>A | CA386305010 | GNPTAB | c.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) | |
| 12 | g.101786125T>C | CA386305009 | GNPTAB | c.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 |
| 12 | g.101786125T>G | CA386305008 | GNPTAB | c.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 |
| 12 | g.101786125T= | CA2058964834 | GNPTAB | c.458A= (p.Asp153=) n.252A= c.92A= (p.Asp31=) c.377A= (p.Asp126=) c.242A= (p.Asp81=) c.-893A= (n.-893A=) | |
| 12 | g.101786126C>A | CA386305011 | GNPTAB | c.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) | |
| 12 | g.101786126C= | CA2058964835 | GNPTAB | c.457G= (p.Asp153=) n.251G= c.91G= (p.Asp31=) c.376G= (p.Asp126=) c.241G= (p.Asp81=) c.-894G= (n.-894G=) | |
| 12 | g.101786126C>G | CA386305012 | GNPTAB | c.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) | |
| 12 | g.101786126C>T | CA10640664 | GNPTAB | c.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 |
| 12 | g.101786127C>A | CA386305013 | GNPTAB | c.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) | |
| 12 | g.101786127C>G | CA386305014 | GNPTAB | c.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) | |
| 12 | g.101786127C>T | CA481326278 | GNPTAB | c.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) | |
| 12 | g.101786128T>A | CA386305015 | GNPTAB | c.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) | |
| 12 | g.101786128T>C | CA386305016 | GNPTAB | c.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) | |
| 12 | g.101786128T>G | CA386305017 | GNPTAB | c.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) | |
| 12 | g.101786129T>A | CA386305018 | GNPTAB | c.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) | |
| 12 | g.101786129T>C | CA386305019 | GNPTAB | c.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) | |
| 12 | g.101786129T>G | CA386305020 | GNPTAB | c.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) | |
| 12 | g.101786130C>A | CA481326279 | GNPTAB | c.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) | |
| 12 | g.101786130C>G | CA481326280 | GNPTAB | c.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) | |
| 12 | g.101786130C>T | CA481326281 | GNPTAB | c.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) | |
| 12 | g.101786131A= | CA2058964836 | GNPTAB | c.452T= (p.Leu151=) n.246T= c.86T= (p.Leu29=) c.371T= (p.Leu124=) c.236T= (p.Leu79=) c.-899T= (n.-899T=) | |
| 12 | g.101786131A>C | CA6746877 | GNPTAB | c.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 |
| 12 | g.101786131A>G | CA386305021 | GNPTAB | c.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) | |
| 12 | g.101786131A>T | CA386305022 | GNPTAB | c.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) | |
| 12 | g.101786132G>A | CA481326282 | GNPTAB | c.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 |
| 12 | g.101786132G>C | CA242473409 | GNPTAB | c.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 |
| 12 | g.101786132G= | CA2058964837 | GNPTAB | c.451C= (p.Leu151=) n.245C= c.85C= (p.Leu29=) c.370C= (p.Leu124=) c.235C= (p.Leu79=) c.-900C= (n.-900C=) | |
| 12 | g.101786132G>T | CA386305023 | GNPTAB | c.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) | |
| 12 | g.101786133G>A | CA481326283 | GNPTAB | c.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) | |
| 12 | g.101786133G>C | CA481326284 | GNPTAB | c.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) | |
| 12 | g.101786133G>T | CA481326285 | GNPTAB | c.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) | |
| 12 | g.101786134G>A | CA386305024 | GNPTAB | c.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 |
| 12 | g.101786134G>C | CA386305026 | GNPTAB | c.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) | |
| 12 | g.101786134G>T | CA386305025 | GNPTAB | c.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) | |
| 12 | g.101786135T>A | CA386305027 | GNPTAB | c.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) | |
| 12 | g.101786135T>C | CA386305029 | GNPTAB | c.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) | |
| 12 | g.101786135T>G | CA386305028 | GNPTAB | c.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 |
| 12 | g.101786135T= | CA2058964838 | GNPTAB | c.448A= (p.Thr150=) n.242A= c.82A= (p.Thr28=) c.367A= (p.Thr123=) c.232A= (p.Thr78=) c.-903A= (n.-903A=) | |
| 12 | g.101786136G>A | CA481326286 | GNPTAB | c.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 |
| 12 | g.101786136G>C | CA386305030 | GNPTAB | c.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) | |
| 12 | g.101786136G= | CA2058964839 | GNPTAB | c.447C= (p.Ile149=) n.241C= c.81C= (p.Ile27=) c.366C= (p.Ile122=) c.231C= (p.Ile77=) c.-904C= (n.-904C=) | |
| 12 | g.101786136G>T | CA481326287 | GNPTAB | c.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 |
| 12 | g.101786137A>C | CA386305031 | GNPTAB | c.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) | |
| 12 | g.101786137A>G | CA386305032 | GNPTAB | c.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) | |
| 12 | g.101786137A>T | CA386305033 | GNPTAB | c.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) | |
| 12 | g.101786138T>A | CA6746878 | GNPTAB | c.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 |
| 12 | g.101786138T>C | CA386305034 | GNPTAB | c.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 |
| 12 | g.101786138T>G | CA386305035 | GNPTAB | c.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) | |
| 12 | g.101786138T= | CA2058964840 | GNPTAB | c.445A= (p.Ile149=) n.239A= c.79A= (p.Ile27=) c.364A= (p.Ile122=) c.229A= (p.Ile77=) c.-906A= (n.-906A=) | |
| 12 | g.101786139G>A | CA481326288 | GNPTAB | c.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) | |
| 12 | g.101786139G>C | CA386305036 | GNPTAB | c.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) | |
| 12 | g.101786139G>T | CA386305037 | GNPTAB | c.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) | |
| 12 | g.101786140T>A | CA386305040 | GNPTAB | c.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) | |
| 12 | g.101786140T>C | CA386305039 | GNPTAB | c.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 |
| 12 | g.101786140T>G | CA386305038 | GNPTAB | c.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 |
| 12 | g.101786141T>A | CA386305041 | GNPTAB | c.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) | |
| 12 | g.101786141T>C | CA386305042 | GNPTAB | c.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 |
| 12 | g.101786141T>G | CA386305043 | GNPTAB | c.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) | |
| 12 | g.101786141T= | CA2058964842 | GNPTAB | c.442A= (p.Asn148=) n.236A= c.76A= (p.Asn26=) c.361A= (p.Asn121=) c.226A= (p.Asn76=) c.-909A= (n.-909A=) | |
| 12 | g.101786141_101786142delinsTG | CA2058964841 | GNPTAB | c.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) | |
| 12 | g.101786142G>A | CA481326289 | GNPTAB | c.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) | |
| 12 | g.101786142G>C | CA481326290 | GNPTAB | c.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) | |
| 12 | g.101786142G>T | CA481326291 | GNPTAB | c.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 |
| 12 | g.101786143del | CA343405 | GNPTAB | c.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 |
| 12 | g.101786143G>A | CA386305044 | GNPTAB | c.440C>T (p.Ala147Val) n.234C>T c.74C>T (p.Ala25Val) c.359C>T (p.Ala120Val) c.224C>T (p.Ala75Val) c.-911C>T (n.-911C>T) | |
| 12 | g.101786143G>C | CA6746879 | GNPTAB | c.440C>G (p.Ala147Gly) n.234C>G c.74C>G (p.Ala25Gly) c.359C>G (p.Ala120Gly) c.224C>G (p.Ala75Gly) c.-911C>G (n.-911C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101786143G= | CA2058964843 | GNPTAB | c.440C= (p.Ala147=) n.234C= c.74C= (p.Ala25=) c.359C= (p.Ala120=) c.224C= (p.Ala75=) c.-911C= (n.-911C=) | |
| 12 | g.101786143G>T | CA386305045 | GNPTAB | c.440C>A (p.Ala147Asp) n.234C>A c.74C>A (p.Ala25Asp) c.359C>A (p.Ala120Asp) c.224C>A (p.Ala75Asp) c.-911C>A (n.-911C>A) | |
| 12 | g.101786144C>A | CA386305046 | GNPTAB | c.439G>T (p.Ala147Ser) n.233G>T c.73G>T (p.Ala25Ser) c.358G>T (p.Ala120Ser) c.223G>T (p.Ala75Ser) c.-912G>T (n.-912G>T) | |
| 12 | g.101786144C>G | CA386305047 | GNPTAB | c.439G>C (p.Ala147Pro) n.233G>C c.73G>C (p.Ala25Pro) c.358G>C (p.Ala120Pro) c.223G>C (p.Ala75Pro) c.-912G>C (n.-912G>C) | |
| 12 | g.101786144C>T | CA386305048 | GNPTAB | c.439G>A (p.Ala147Thr) n.233G>A c.73G>A (p.Ala25Thr) c.358G>A (p.Ala120Thr) c.223G>A (p.Ala75Thr) c.-912G>A (n.-912G>A) | |
| 12 | g.101786145T>A | CA481326292 | GNPTAB | c.438A>T (p.Pro146=) n.232A>T c.72A>T (p.Pro24=) c.357A>T (p.Pro119=) c.222A>T (p.Pro74=) c.-913A>T (n.-913A>T) | |
| 12 | g.101786145T>C | CA481326294 | GNPTAB | c.438A>G (p.Pro146=) n.232A>G c.72A>G (p.Pro24=) c.357A>G (p.Pro119=) c.222A>G (p.Pro74=) c.-913A>G (n.-913A>G) | dbSNP |
| 12 | g.101786145T>G | CA481326293 | GNPTAB | c.438A>C (p.Pro146=) n.232A>C c.72A>C (p.Pro24=) c.357A>C (p.Pro119=) c.222A>C (p.Pro74=) c.-913A>C (n.-913A>C) | dbSNP gnomAD v4 |
| 12 | g.101786145T= | CA2058964844 | GNPTAB | c.438A= (p.Pro146=) n.232A= c.72A= (p.Pro24=) c.357A= (p.Pro119=) c.222A= (p.Pro74=) c.-913A= (n.-913A=) | |
| 12 | g.101786146G>A | CA386305050 | GNPTAB | c.437C>T (p.Pro146Leu) n.231C>T c.71C>T (p.Pro24Leu) c.356C>T (p.Pro119Leu) c.221C>T (p.Pro74Leu) c.-914C>T (n.-914C>T) | gnomAD v4 |
| 12 | g.101786146G>C | CA386305051 | GNPTAB | c.437C>G (p.Pro146Arg) n.231C>G c.71C>G (p.Pro24Arg) c.356C>G (p.Pro119Arg) c.221C>G (p.Pro74Arg) c.-914C>G (n.-914C>G) | gnomAD v4 |
| 12 | g.101786146G>T | CA386305049 | GNPTAB | c.437C>A (p.Pro146Gln) n.231C>A c.71C>A (p.Pro24Gln) c.356C>A (p.Pro119Gln) c.221C>A (p.Pro74Gln) c.-914C>A (n.-914C>A) | |
| 12 | g.101786147G>A | CA386305052 | GNPTAB | c.436C>T (p.Pro146Ser) n.230C>T c.70C>T (p.Pro24Ser) c.355C>T (p.Pro119Ser) c.220C>T (p.Pro74Ser) c.-915C>T (n.-915C>T) | dbSNP gnomAD v4 |
| 12 | g.101786147G>C | CA242473443 | GNPTAB | c.436C>G (p.Pro146Ala) n.230C>G c.70C>G (p.Pro24Ala) c.355C>G (p.Pro119Ala) c.220C>G (p.Pro74Ala) c.-915C>G (n.-915C>G) | dbSNP |
| 12 | g.101786147G= | CA2058964845 | GNPTAB | c.436C= (p.Pro146=) n.230C= c.70C= (p.Pro24=) c.355C= (p.Pro119=) c.220C= (p.Pro74=) c.-915C= (n.-915C=) | |
| 12 | g.101786147G>T | CA386305053 | GNPTAB | c.436C>A (p.Pro146Thr) n.230C>A c.70C>A (p.Pro24Thr) c.355C>A (p.Pro119Thr) c.220C>A (p.Pro74Thr) c.-915C>A (n.-915C>A) | |
| 12 | g.101786148C>A | CA481326295 | GNPTAB | c.435G>T (p.Leu145=) n.229G>T c.69G>T (p.Leu23=) c.354G>T (p.Leu118=) c.219G>T (p.Leu73=) c.-916G>T (n.-916G>T) | |
| 12 | g.101786148C>G | CA481326296 | GNPTAB | c.435G>C (p.Leu145=) n.229G>C c.69G>C (p.Leu23=) c.354G>C (p.Leu118=) c.219G>C (p.Leu73=) c.-916G>C (n.-916G>C) | |
| 12 | g.101786148C>T | CA481326297 | GNPTAB | c.435G>A (p.Leu145=) n.229G>A c.69G>A (p.Leu23=) c.354G>A (p.Leu118=) c.219G>A (p.Leu73=) c.-916G>A (n.-916G>A) | |
| 12 | g.101786149A>C | CA386305054 | GNPTAB | c.434T>G (p.Leu145Arg) n.228T>G c.68T>G (p.Leu23Arg) c.353T>G (p.Leu118Arg) c.218T>G (p.Leu73Arg) c.-917T>G (n.-917T>G) | |
| 12 | g.101786149A>G | CA386305055 | GNPTAB | c.434T>C (p.Leu145Pro) n.228T>C c.68T>C (p.Leu23Pro) c.353T>C (p.Leu118Pro) c.218T>C (p.Leu73Pro) c.-917T>C (n.-917T>C) | |
| 12 | g.101786149A>T | CA386305056 | GNPTAB | c.434T>A (p.Leu145Gln) n.228T>A c.68T>A (p.Leu23Gln) c.353T>A (p.Leu118Gln) c.218T>A (p.Leu73Gln) c.-917T>A (n.-917T>A) | |
| 12 | g.101786150G>A | CA6746880 | GNPTAB | c.433C>T (p.Leu145=) n.227C>T c.67C>T (p.Leu23=) c.352C>T (p.Leu118=) c.217C>T (p.Leu73=) c.-918C>T (n.-918C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101786150G>C | CA386305057 | GNPTAB | c.433C>G (p.Leu145Val) n.227C>G c.67C>G (p.Leu23Val) c.352C>G (p.Leu118Val) c.217C>G (p.Leu73Val) c.-918C>G (n.-918C>G) | |
| 12 | g.101786150G= | CA2058964846 | GNPTAB | c.433C= (p.Leu145=) n.227C= c.67C= (p.Leu23=) c.352C= (p.Leu118=) c.217C= (p.Leu73=) c.-918C= (n.-918C=) | |
| 12 | g.101786150G>T | CA6746881 | GNPTAB | c.433C>A (p.Leu145Met) n.227C>A c.67C>A (p.Leu23Met) c.352C>A (p.Leu118Met) c.217C>A (p.Leu73Met) c.-918C>A (n.-918C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101786151G>A | CA6746882 | GNPTAB | c.432C>T (p.Ala144=) n.226C>T c.66C>T (p.Ala22=) c.351C>T (p.Ala117=) c.216C>T (p.Ala72=) c.-919C>T (n.-919C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101786151G>C | CA481326298 | GNPTAB | c.432C>G (p.Ala144=) n.226C>G c.66C>G (p.Ala22=) c.351C>G (p.Ala117=) c.216C>G (p.Ala72=) c.-919C>G (n.-919C>G) | |
| 12 | g.101786151G= | CA2058964847 | GNPTAB | c.432C= (p.Ala144=) n.226C= c.66C= (p.Ala22=) c.351C= (p.Ala117=) c.216C= (p.Ala72=) c.-919C= (n.-919C=) | |
| 12 | g.101786151G>T | CA481326299 | GNPTAB | c.432C>A (p.Ala144=) n.226C>A c.66C>A (p.Ala22=) c.351C>A (p.Ala117=) c.216C>A (p.Ala72=) c.-919C>A (n.-919C>A) | |
| 12 | g.101786152G>A | CA386305058 | GNPTAB | c.431C>T (p.Ala144Val) n.225C>T c.65C>T (p.Ala22Val) c.350C>T (p.Ala117Val) c.215C>T (p.Ala72Val) c.-920C>T (n.-920C>T) | dbSNP gnomAD v2 |
| 12 | g.101786152G>C | CA386305059 | GNPTAB | c.431C>G (p.Ala144Gly) n.225C>G c.65C>G (p.Ala22Gly) c.350C>G (p.Ala117Gly) c.215C>G (p.Ala72Gly) c.-920C>G (n.-920C>G) | |
| 12 | g.101786152G= | CA2058964848 | GNPTAB | c.431C= (p.Ala144=) n.225C= c.65C= (p.Ala22=) c.350C= (p.Ala117=) c.215C= (p.Ala72=) c.-920C= (n.-920C=) | |
| 12 | g.101786152G>T | CA386305060 | GNPTAB | c.431C>A (p.Ala144Asp) n.225C>A c.65C>A (p.Ala22Asp) c.350C>A (p.Ala117Asp) c.215C>A (p.Ala72Asp) c.-920C>A (n.-920C>A) | dbSNP |
| 12 | g.101786153C>A | CA386305061 | GNPTAB | c.430G>T (p.Ala144Ser) n.224G>T c.64G>T (p.Ala22Ser) c.349G>T (p.Ala117Ser) c.214G>T (p.Ala72Ser) c.-921G>T (n.-921G>T) | gnomAD v4 |
| 12 | g.101786153C>G | CA386305063 | GNPTAB | c.430G>C (p.Ala144Pro) n.224G>C c.64G>C (p.Ala22Pro) c.349G>C (p.Ala117Pro) c.214G>C (p.Ala72Pro) c.-921G>C (n.-921G>C) | |
| 12 | g.101786153C>T | CA386305062 | GNPTAB | c.430G>A (p.Ala144Thr) n.224G>A c.64G>A (p.Ala22Thr) c.349G>A (p.Ala117Thr) c.214G>A (p.Ala72Thr) c.-921G>A (n.-921G>A) | |
| 12 | g.101786154T>A | CA481326300 | GNPTAB | c.429A>T (p.Pro143=) n.223A>T c.63A>T (p.Pro21=) c.348A>T (p.Pro116=) c.213A>T (p.Pro71=) c.-922A>T (n.-922A>T) | |
| 12 | g.101786154T>C | CA481326301 | GNPTAB | c.429A>G (p.Pro143=) n.223A>G c.63A>G (p.Pro21=) c.348A>G (p.Pro116=) c.213A>G (p.Pro71=) c.-922A>G (n.-922A>G) | |
| 12 | g.101786154T>G | CA6746883 | GNPTAB | c.429A>C (p.Pro143=) n.223A>C c.63A>C (p.Pro21=) c.348A>C (p.Pro116=) c.213A>C (p.Pro71=) c.-922A>C (n.-922A>C) | ClinVar dbSNP ExAC gnomAD v2 |
| 12 | g.101786154T= | CA2058964849 | GNPTAB | c.429A= (p.Pro143=) n.223A= c.63A= (p.Pro21=) c.348A= (p.Pro116=) c.213A= (p.Pro71=) c.-922A= (n.-922A=) | |
| 12 | g.101786155G>A | CA386305064 | GNPTAB | c.428C>T (p.Pro143Leu) n.222C>T c.62C>T (p.Pro21Leu) c.347C>T (p.Pro116Leu) c.212C>T (p.Pro71Leu) c.-923C>T (n.-923C>T) | |
| 12 | g.101786155G>C | CA386305065 | GNPTAB | c.428C>G (p.Pro143Arg) n.222C>G c.62C>G (p.Pro21Arg) c.347C>G (p.Pro116Arg) c.212C>G (p.Pro71Arg) c.-923C>G (n.-923C>G) | |
| 12 | g.101786155G>T | CA386305066 | GNPTAB | c.428C>A (p.Pro143Gln) n.222C>A c.62C>A (p.Pro21Gln) c.347C>A (p.Pro116Gln) c.212C>A (p.Pro71Gln) c.-923C>A (n.-923C>A) | |
| 12 | g.101786156G>A | CA386305067 | GNPTAB | c.427C>T (p.Pro143Ser) n.221C>T c.61C>T (p.Pro21Ser) c.346C>T (p.Pro116Ser) c.211C>T (p.Pro71Ser) c.-924C>T (n.-924C>T) | gnomAD v4 |
| 12 | g.101786156G>C | CA386305068 | GNPTAB | c.427C>G (p.Pro143Ala) n.221C>G c.61C>G (p.Pro21Ala) c.346C>G (p.Pro116Ala) c.211C>G (p.Pro71Ala) c.-924C>G (n.-924C>G) | |
| 12 | g.101786156G>T | CA386305069 | GNPTAB | c.427C>A (p.Pro143Thr) n.221C>A c.61C>A (p.Pro21Thr) c.346C>A (p.Pro116Thr) c.211C>A (p.Pro71Thr) c.-924C>A (n.-924C>A) | |
| 12 | g.101786157G>A | CA481326302 | GNPTAB | c.426C>T (p.Asp142=) n.220C>T c.60C>T (p.Asp20=) c.345C>T (p.Asp115=) c.210C>T (p.Asp70=) c.-925C>T (n.-925C>T) | ClinVar dbSNP |
| 12 | g.101786157G>C | CA386305070 | GNPTAB | c.426C>G (p.Asp142Glu) n.220C>G c.60C>G (p.Asp20Glu) c.345C>G (p.Asp115Glu) c.210C>G (p.Asp70Glu) c.-925C>G (n.-925C>G) | gnomAD v4 |
| 12 | g.101786157G>T | CA386305071 | GNPTAB | c.426C>A (p.Asp142Glu) n.220C>A c.60C>A (p.Asp20Glu) c.345C>A (p.Asp115Glu) c.210C>A (p.Asp70Glu) c.-925C>A (n.-925C>A) | |
| 12 | g.101786158T>A | CA386305072 | GNPTAB | c.425A>T (p.Asp142Val) n.219A>T c.59A>T (p.Asp20Val) c.344A>T (p.Asp115Val) c.209A>T (p.Asp70Val) c.-926A>T (n.-926A>T) | |
| 12 | g.101786158T>C | CA386305073 | GNPTAB | c.425A>G (p.Asp142Gly) n.219A>G c.59A>G (p.Asp20Gly) c.344A>G (p.Asp115Gly) c.209A>G (p.Asp70Gly) c.-926A>G (n.-926A>G) | dbSNP gnomAD v4 |
| 12 | g.101786158T>G | CA386305074 | GNPTAB | c.425A>C (p.Asp142Ala) n.219A>C c.59A>C (p.Asp20Ala) c.344A>C (p.Asp115Ala) c.209A>C (p.Asp70Ala) c.-926A>C (n.-926A>C) | dbSNP |
| 12 | g.101786158T= | CA2058964850 | GNPTAB | c.425A= (p.Asp142=) n.219A= c.59A= (p.Asp20=) c.344A= (p.Asp115=) c.209A= (p.Asp70=) c.-926A= (n.-926A=) | |
| 12 | g.101786159C>A | CA386305076 | GNPTAB | c.424G>T (p.Asp142Tyr) n.218G>T c.58G>T (p.Asp20Tyr) c.343G>T (p.Asp115Tyr) c.208G>T (p.Asp70Tyr) c.-927G>T (n.-927G>T) | |
| 12 | g.101786159C= | CA2058964851 | GNPTAB | c.424G= (p.Asp142=) n.218G= c.58G= (p.Asp20=) c.343G= (p.Asp115=) c.208G= (p.Asp70=) c.-927G= (n.-927G=) | |
| 12 | g.101786159C>G | CA6746884 | GNPTAB | c.424G>C (p.Asp142His) n.218G>C c.58G>C (p.Asp20His) c.343G>C (p.Asp115His) c.208G>C (p.Asp70His) c.-927G>C (n.-927G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101786159C>T | CA386305075 | GNPTAB | c.424G>A (p.Asp142Asn) n.218G>A c.58G>A (p.Asp20Asn) c.343G>A (p.Asp115Asn) c.208G>A (p.Asp70Asn) c.-927G>A (n.-927G>A) | |
| 12 | g.101786160C>A | CA481326303 | GNPTAB | c.423G>T (p.Leu141=) n.217G>T c.57G>T (p.Leu19=) c.342G>T (p.Leu114=) c.207G>T (p.Leu69=) c.-928G>T (n.-928G>T) | ClinVar dbSNP |
| 12 | g.101786160C>G | CA481326304 | GNPTAB | c.423G>C (p.Leu141=) n.217G>C c.57G>C (p.Leu19=) c.342G>C (p.Leu114=) c.207G>C (p.Leu69=) c.-928G>C (n.-928G>C) | |
| 12 | g.101786160C>T | CA481326305 | GNPTAB | c.423G>A (p.Leu141=) n.217G>A c.57G>A (p.Leu19=) c.342G>A (p.Leu114=) c.207G>A (p.Leu69=) c.-928G>A (n.-928G>A) | |
| 12 | g.101786161A= | CA2058964852 | GNPTAB | c.422T= (p.Leu141=) n.216T= c.56T= (p.Leu19=) c.341T= (p.Leu114=) c.206T= (p.Leu69=) c.-929T= (n.-929T=) | |
| 12 | g.101786161A>C | CA386305078 | GNPTAB | c.422T>G (p.Leu141Arg) n.216T>G c.56T>G (p.Leu19Arg) c.341T>G (p.Leu114Arg) c.206T>G (p.Leu69Arg) c.-929T>G (n.-929T>G) | |
| 12 | g.101786161A>G | CA242473477 | GNPTAB | c.422T>C (p.Leu141Pro) n.216T>C c.56T>C (p.Leu19Pro) c.341T>C (p.Leu114Pro) c.206T>C (p.Leu69Pro) c.-929T>C (n.-929T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101786161A>T | CA386305077 | GNPTAB | c.422T>A (p.Leu141Gln) n.216T>A c.56T>A (p.Leu19Gln) c.341T>A (p.Leu114Gln) c.206T>A (p.Leu69Gln) c.-929T>A (n.-929T>A) | gnomAD v4 |
| 12 | g.101786162G>A | CA6746885 | GNPTAB | c.421C>T (p.Leu141=) n.215C>T c.55C>T (p.Leu19=) c.340C>T (p.Leu114=) c.205C>T (p.Leu69=) c.-930C>T (n.-930C>T) | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.101786162G>C | CA386305079 | GNPTAB | c.421C>G (p.Leu141Val) n.215C>G c.55C>G (p.Leu19Val) c.340C>G (p.Leu114Val) c.205C>G (p.Leu69Val) c.-930C>G (n.-930C>G) | |
| 12 | g.101786162G= | CA2058964853 | GNPTAB | c.421C= (p.Leu141=) n.215C= c.55C= (p.Leu19=) c.340C= (p.Leu114=) c.205C= (p.Leu69=) c.-930C= (n.-930C=) | |
| 12 | g.101786162G>T | CA386305080 | GNPTAB | c.421C>A (p.Leu141Met) n.215C>A c.55C>A (p.Leu19Met) c.340C>A (p.Leu114Met) c.205C>A (p.Leu69Met) c.-930C>A (n.-930C>A) | |
| 12 | g.101786163del | CA2620446023 | GNPTAB | c.421del (p.Leu141TrpfsTer11) n.215del c.55del (p.Leu19TrpfsTer11) c.340del (p.Leu114TrpfsTer11) c.205del (p.Leu69TrpfsTer11) c.-930del (n.-930del) | gnomAD v4 |
| 12 | g.101786163G>A | CA6746886 | GNPTAB | c.420C>T (p.Val140=) n.214C>T c.54C>T (p.Val18=) c.339C>T (p.Val113=) c.204C>T (p.Val68=) c.-931C>T (n.-931C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101786163G>C | CA481326306 | GNPTAB | c.420C>G (p.Val140=) n.214C>G c.54C>G (p.Val18=) c.339C>G (p.Val113=) c.204C>G (p.Val68=) c.-931C>G (n.-931C>G) | ClinVar dbSNP |
| 12 | g.101786163G= | CA2058964854 | GNPTAB | c.420C= (p.Val140=) n.214C= c.54C= (p.Val18=) c.339C= (p.Val113=) c.204C= (p.Val68=) c.-931C= (n.-931C=) | |
| 12 | g.101786163G>T | CA481326307 | GNPTAB | c.420C>A (p.Val140=) n.214C>A c.54C>A (p.Val18=) c.339C>A (p.Val113=) c.204C>A (p.Val68=) c.-931C>A (n.-931C>A) | |
| 12 | g.101786164A= | CA2058964855 | GNPTAB | c.419T= (p.Val140=) n.213T= c.53T= (p.Val18=) c.338T= (p.Val113=) c.203T= (p.Val68=) c.-932T= (n.-932T=) | |
| 12 | g.101786164A>C | CA386305081 | GNPTAB | c.419T>G (p.Val140Gly) n.213T>G c.53T>G (p.Val18Gly) c.338T>G (p.Val113Gly) c.203T>G (p.Val68Gly) c.-932T>G (n.-932T>G) | |
| 12 | g.101786164A>G | CA386305082 | GNPTAB | c.419T>C (p.Val140Ala) n.213T>C c.53T>C (p.Val18Ala) c.338T>C (p.Val113Ala) c.203T>C (p.Val68Ala) c.-932T>C (n.-932T>C) | dbSNP |
| 12 | g.101786164A>T | CA386305083 | GNPTAB | c.419T>A (p.Val140Asp) n.213T>A c.53T>A (p.Val18Asp) c.338T>A (p.Val113Asp) c.203T>A (p.Val68Asp) c.-932T>A (n.-932T>A) | |
| 12 | g.101786165C>A | CA386305084 | GNPTAB | c.418G>T (p.Val140Phe) n.212G>T c.52G>T (p.Val18Phe) c.337G>T (p.Val113Phe) c.202G>T (p.Val68Phe) c.-933G>T (n.-933G>T) | |
| 12 | g.101786165C>G | CA386305085 | GNPTAB | c.418G>C (p.Val140Leu) n.212G>C c.52G>C (p.Val18Leu) c.337G>C (p.Val113Leu) c.202G>C (p.Val68Leu) c.-933G>C (n.-933G>C) | |
| 12 | g.101786165C>T | CA386305086 | GNPTAB | c.418G>A (p.Val140Ile) n.212G>A c.52G>A (p.Val18Ile) c.337G>A (p.Val113Ile) c.202G>A (p.Val68Ile) c.-933G>A (n.-933G>A) | |
| 12 | g.101786166A>C | CA481326309 | GNPTAB | c.417T>G (p.Leu139=) n.211T>G c.51T>G (p.Leu17=) c.336T>G (p.Leu112=) c.201T>G (p.Leu67=) c.-934T>G (n.-934T>G) | |
| 12 | g.101786166A>G | CA481326310 | GNPTAB | c.417T>C (p.Leu139=) n.211T>C c.51T>C (p.Leu17=) c.336T>C (p.Leu112=) c.201T>C (p.Leu67=) c.-934T>C (n.-934T>C) | |
| 12 | g.101786166A>T | CA481326311 | GNPTAB | c.417T>A (p.Leu139=) n.211T>A c.51T>A (p.Leu17=) c.336T>A (p.Leu112=) c.201T>A (p.Leu67=) c.-934T>A (n.-934T>A) | |
| 12 | g.101786167A>C | CA386305089 | GNPTAB | c.416T>G (p.Leu139Arg) n.210T>G c.50T>G (p.Leu17Arg) c.335T>G (p.Leu112Arg) c.200T>G (p.Leu67Arg) c.-935T>G (n.-935T>G) | |
| 12 | g.101786167A>G | CA386305088 | GNPTAB | c.416T>C (p.Leu139Pro) n.210T>C c.50T>C (p.Leu17Pro) c.335T>C (p.Leu112Pro) c.200T>C (p.Leu67Pro) c.-935T>C (n.-935T>C) | gnomAD v4 |
| 12 | g.101786167A>T | CA386305087 | GNPTAB | c.416T>A (p.Leu139His) n.210T>A c.50T>A (p.Leu17His) c.335T>A (p.Leu112His) c.200T>A (p.Leu67His) c.-935T>A (n.-935T>A) | |
| 12 | g.101786168G>A | CA386305090 | GNPTAB | c.415C>T (p.Leu139Phe) n.209C>T c.49C>T (p.Leu17Phe) c.334C>T (p.Leu112Phe) c.199C>T (p.Leu67Phe) c.-936C>T (n.-936C>T) | |
| 12 | g.101786168G>C | CA386305091 | GNPTAB | c.415C>G (p.Leu139Val) n.209C>G c.49C>G (p.Leu17Val) c.334C>G (p.Leu112Val) c.199C>G (p.Leu67Val) c.-936C>G (n.-936C>G) | |
| 12 | g.101786168G>T | CA386305092 | GNPTAB | c.415C>A (p.Leu139Ile) n.209C>A c.49C>A (p.Leu17Ile) c.334C>A (p.Leu112Ile) c.199C>A (p.Leu67Ile) c.-936C>A (n.-936C>A) | |
| 12 | g.101786169C>A | CA386305093 | GNPTAB | c.414G>T (p.Met138Ile) n.208G>T c.48G>T (p.Met16Ile) c.333G>T (p.Met111Ile) c.198G>T (p.Met66Ile) c.-937G>T (n.-937G>T) | |
| 12 | g.101786169C= | CA2058964856 | GNPTAB | c.414G= (p.Met138=) n.208G= c.48G= (p.Met16=) c.333G= (p.Met111=) c.198G= (p.Met66=) c.-937G= (n.-937G=) | |
| 12 | g.101786169C>G | CA386305094 | GNPTAB | c.414G>C (p.Met138Ile) n.208G>C c.48G>C (p.Met16Ile) c.333G>C (p.Met111Ile) c.198G>C (p.Met66Ile) c.-937G>C (n.-937G>C) | |
| 12 | g.101786169C>T | CA386305095 | GNPTAB | c.414G>A (p.Met138Ile) n.208G>A c.48G>A (p.Met16Ile) c.333G>A (p.Met111Ile) c.198G>A (p.Met66Ile) c.-937G>A (n.-937G>A) | dbSNP |
| 12 | g.101786170A>C | CA386305096 | GNPTAB | c.413T>G (p.Met138Arg) n.207T>G c.47T>G (p.Met16Arg) c.332T>G (p.Met111Arg) c.197T>G (p.Met66Arg) c.-938T>G (n.-938T>G) | |
| 12 | g.101786170A>G | CA386305097 | GNPTAB | c.413T>C (p.Met138Thr) n.207T>C c.47T>C (p.Met16Thr) c.332T>C (p.Met111Thr) c.197T>C (p.Met66Thr) c.-938T>C (n.-938T>C) | |
| 12 | g.101786170A>T | CA386305098 | GNPTAB | c.413T>A (p.Met138Lys) n.207T>A c.47T>A (p.Met16Lys) c.332T>A (p.Met111Lys) c.197T>A (p.Met66Lys) c.-938T>A (n.-938T>A) | |
| 12 | g.101786171T>A | CA386305099 | GNPTAB | c.412A>T (p.Met138Leu) n.206A>T c.46A>T (p.Met16Leu) c.331A>T (p.Met111Leu) c.196A>T (p.Met66Leu) c.-939A>T (n.-939A>T) | |
| 12 | g.101786171T>C | CA386305100 | GNPTAB | c.412A>G (p.Met138Val) n.206A>G c.46A>G (p.Met16Val) c.331A>G (p.Met111Val) c.196A>G (p.Met66Val) c.-939A>G (n.-939A>G) | dbSNP gnomAD v4 |
| 12 | g.101786171T>G | CA386305101 | GNPTAB | c.412A>C (p.Met138Leu) n.206A>C c.46A>C (p.Met16Leu) c.331A>C (p.Met111Leu) c.196A>C (p.Met66Leu) c.-939A>C (n.-939A>C) | |
| 12 | g.101786171T= | CA2058964857 | GNPTAB | c.412A= (p.Met138=) n.206A= c.46A= (p.Met16=) c.331A= (p.Met111=) c.196A= (p.Met66=) c.-939A= (n.-939A=) | |
| 12 | g.101786172T>A | CA481326314 | GNPTAB | c.411A>T (p.Pro137=) n.205A>T c.45A>T (p.Pro15=) c.330A>T (p.Pro110=) c.195A>T (p.Pro65=) c.-940A>T (n.-940A>T) | |
| 12 | g.101786172T>C | CA481326313 | GNPTAB | c.411A>G (p.Pro137=) n.205A>G c.45A>G (p.Pro15=) c.330A>G (p.Pro110=) c.195A>G (p.Pro65=) c.-940A>G (n.-940A>G) | ClinVar |
| 12 | g.101786172T>G | CA481326312 | GNPTAB | c.411A>C (p.Pro137=) n.205A>C c.45A>C (p.Pro15=) c.330A>C (p.Pro110=) c.195A>C (p.Pro65=) c.-940A>C (n.-940A>C) | |
| 12 | g.101786172_101786173delinsTG | CA2058964858 | GNPTAB | c.410_411delinsCA (p.Pro137=) n.204_205delinsCA c.44_45delinsCA (p.Pro15=) c.329_330delinsCA (p.Pro110=) c.194_195delinsCA (p.Pro65=) c.-941_-940delinsCA (n.-941_-940delinsCA) | |
| 12 | g.101786173G>A | CA386305103 | GNPTAB | c.410C>T (p.Pro137Leu) n.204C>T c.44C>T (p.Pro15Leu) c.329C>T (p.Pro110Leu) c.194C>T (p.Pro65Leu) c.-941C>T (n.-941C>T) | |
| 12 | g.101786173G>C | CA386305104 | GNPTAB | c.410C>G (p.Pro137Arg) n.204C>G c.44C>G (p.Pro15Arg) c.329C>G (p.Pro110Arg) c.194C>G (p.Pro65Arg) c.-941C>G (n.-941C>G) | |
| 12 | g.101786173G= | CA2058964859 | GNPTAB | c.410C= (p.Pro137=) n.204C= c.44C= (p.Pro15=) c.329C= (p.Pro110=) c.194C= (p.Pro65=) c.-941C= (n.-941C=) | |
| 12 | g.101786173G>T | CA386305102 | GNPTAB | c.410C>A (p.Pro137Gln) n.204C>A c.44C>A (p.Pro15Gln) c.329C>A (p.Pro110Gln) c.194C>A (p.Pro65Gln) c.-941C>A (n.-941C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101786174del | CA6746887 | GNPTAB | c.410del (p.Pro137GlnfsTer15) n.204del c.44del (p.Pro15GlnfsTer15) c.329del (p.Pro110GlnfsTer15) c.194del (p.Pro65GlnfsTer15) c.-941del (n.-941del) | dbSNP ExAC gnomAD v2 |
| 12 | g.101786174G>A | CA386305105 | GNPTAB | c.409C>T (p.Pro137Ser) n.203C>T c.43C>T (p.Pro15Ser) c.328C>T (p.Pro110Ser) c.193C>T (p.Pro65Ser) c.-942C>T (n.-942C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101786174G>C | CA386305106 | GNPTAB | c.409C>G (p.Pro137Ala) n.203C>G c.43C>G (p.Pro15Ala) c.328C>G (p.Pro110Ala) c.193C>G (p.Pro65Ala) c.-942C>G (n.-942C>G) | |
| 12 | g.101786174G= | CA2058964860 | GNPTAB | c.409C= (p.Pro137=) n.203C= c.43C= (p.Pro15=) c.328C= (p.Pro110=) c.193C= (p.Pro65=) c.-942C= (n.-942C=) | |
| 12 | g.101786174G>T | CA386305107 | GNPTAB | c.409C>A (p.Pro137Thr) n.203C>A c.43C>A (p.Pro15Thr) c.328C>A (p.Pro110Thr) c.193C>A (p.Pro65Thr) c.-942C>A (n.-942C>A) | |
| 12 | g.101786175C>A | CA481326318 | GNPTAB | c.408G>T (p.Val136=) n.202G>T c.42G>T (p.Val14=) c.327G>T (p.Val109=) c.192G>T (p.Val64=) c.-943G>T (n.-943G>T) | gnomAD v4 |
| 12 | g.101786175C>G | CA481326315 | GNPTAB | c.408G>C (p.Val136=) n.202G>C c.42G>C (p.Val14=) c.327G>C (p.Val109=) c.192G>C (p.Val64=) c.-943G>C (n.-943G>C) | |
| 12 | g.101786175C>T | CA481326317 | GNPTAB | c.408G>A (p.Val136=) n.202G>A c.42G>A (p.Val14=) c.327G>A (p.Val109=) c.192G>A (p.Val64=) c.-943G>A (n.-943G>A) | |
| 12 | g.101786176A= | CA2058964861 | GNPTAB | c.407T= (p.Val136=) n.201T= c.41T= (p.Val14=) c.326T= (p.Val109=) c.191T= (p.Val64=) c.-944T= (n.-944T=) | |
| 12 | g.101786176A>C | CA386305108 | GNPTAB | c.407T>G (p.Val136Gly) n.201T>G c.41T>G (p.Val14Gly) c.326T>G (p.Val109Gly) c.191T>G (p.Val64Gly) c.-944T>G (n.-944T>G) | gnomAD v4 |
| 12 | g.101786176A>G | CA386305109 | GNPTAB | c.407T>C (p.Val136Ala) n.201T>C c.41T>C (p.Val14Ala) c.326T>C (p.Val109Ala) c.191T>C (p.Val64Ala) c.-944T>C (n.-944T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101786176A>T | CA386305110 | GNPTAB | c.407T>A (p.Val136Glu) n.201T>A c.41T>A (p.Val14Glu) c.326T>A (p.Val109Glu) c.191T>A (p.Val64Glu) c.-944T>A (n.-944T>A) | |
| 12 | g.101786177C>A | CA386305113 | GNPTAB | c.406G>T (p.Val136Leu) n.200G>T c.40G>T (p.Val14Leu) c.325G>T (p.Val109Leu) c.190G>T (p.Val64Leu) c.-945G>T (n.-945G>T) | |
| 12 | g.101786177C>G | CA386305111 | GNPTAB | c.406G>C (p.Val136Leu) n.200G>C c.40G>C (p.Val14Leu) c.325G>C (p.Val109Leu) c.190G>C (p.Val64Leu) c.-945G>C (n.-945G>C) | |
| 12 | g.101786177C>T | CA386305112 | GNPTAB | c.406G>A (p.Val136Met) n.200G>A c.40G>A (p.Val14Met) c.325G>A (p.Val109Met) c.190G>A (p.Val64Met) c.-945G>A (n.-945G>A) | |
| 12 | g.101786178C>A | CA386305114 | GNPTAB | c.405G>T (p.Lys135Asn) n.199G>T c.39G>T (p.Lys13Asn) c.324G>T (p.Lys108Asn) c.189G>T (p.Lys63Asn) c.-946G>T (n.-946G>T) | |
| 12 | g.101786178C>G | CA386305115 | GNPTAB | c.405G>C (p.Lys135Asn) n.199G>C c.39G>C (p.Lys13Asn) c.324G>C (p.Lys108Asn) c.189G>C (p.Lys63Asn) c.-946G>C (n.-946G>C) | |
| 12 | g.101786178C>T | CA481326320 | GNPTAB | c.405G>A (p.Lys135=) n.199G>A c.39G>A (p.Lys13=) c.324G>A (p.Lys108=) c.189G>A (p.Lys63=) c.-946G>A (n.-946G>A) | ClinVar gnomAD v4 |
| 12 | g.101786179T>A | CA386305116 | GNPTAB | c.404A>T (p.Lys135Met) n.198A>T c.38A>T (p.Lys13Met) c.323A>T (p.Lys108Met) c.188A>T (p.Lys63Met) c.-947A>T (n.-947A>T) | |
| 12 | g.101786179T>C | CA386305117 | GNPTAB | c.404A>G (p.Lys135Arg) n.198A>G c.38A>G (p.Lys13Arg) c.323A>G (p.Lys108Arg) c.188A>G (p.Lys63Arg) c.-947A>G (n.-947A>G) | |
| 12 | g.101786179T>G | CA386305118 | GNPTAB | c.404A>C (p.Lys135Thr) n.198A>C c.38A>C (p.Lys13Thr) c.323A>C (p.Lys108Thr) c.188A>C (p.Lys63Thr) c.-947A>C (n.-947A>C) | |
| 12 | g.101786180T>A | CA386305119 | GNPTAB | c.403A>T (p.Lys135Ter) n.197A>T c.37A>T (p.Lys13Ter) c.322A>T (p.Lys108Ter) c.187A>T (p.Lys63Ter) c.-948A>T (n.-948A>T) | |
| 12 | g.101786180T>C | CA386305121 | GNPTAB | c.403A>G (p.Lys135Glu) n.197A>G c.37A>G (p.Lys13Glu) c.322A>G (p.Lys108Glu) c.187A>G (p.Lys63Glu) c.-948A>G (n.-948A>G) | gnomAD v4 |
| 12 | g.101786180T>G | CA386305120 | GNPTAB | c.403A>C (p.Lys135Gln) n.197A>C c.37A>C (p.Lys13Gln) c.322A>C (p.Lys108Gln) c.187A>C (p.Lys63Gln) c.-948A>C (n.-948A>C) | |
| 12 | g.101786181A= | CA2058964862 | GNPTAB | c.402T= (p.Ile134=) n.196T= c.36T= (p.Ile12=) c.321T= (p.Ile107=) c.186T= (p.Ile62=) c.-949T= (n.-949T=) | |
| 12 | g.101786181A>C | CA386305122 | GNPTAB | c.402T>G (p.Ile134Met) n.196T>G c.36T>G (p.Ile12Met) c.321T>G (p.Ile107Met) c.186T>G (p.Ile62Met) c.-949T>G (n.-949T>G) | |
| 12 | g.101786181A>G | CA481326322 | GNPTAB | c.402T>C (p.Ile134=) n.196T>C c.36T>C (p.Ile12=) c.321T>C (p.Ile107=) c.186T>C (p.Ile62=) c.-949T>C (n.-949T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101786181A>T | CA481326323 | GNPTAB | c.402T>A (p.Ile134=) n.196T>A c.36T>A (p.Ile12=) c.321T>A (p.Ile107=) c.186T>A (p.Ile62=) c.-949T>A (n.-949T>A) | |
| 12 | g.101786182A>C | CA386305123 | GNPTAB | c.401T>G (p.Ile134Ser) n.195T>G c.35T>G (p.Ile12Ser) c.320T>G (p.Ile107Ser) c.185T>G (p.Ile62Ser) c.-950T>G (n.-950T>G) | |
| 12 | g.101786182A>G | CA386305124 | GNPTAB | c.401T>C (p.Ile134Thr) n.195T>C c.35T>C (p.Ile12Thr) c.320T>C (p.Ile107Thr) c.185T>C (p.Ile62Thr) c.-950T>C (n.-950T>C) | |
| 12 | g.101786182A>T | CA386305125 | GNPTAB | c.401T>A (p.Ile134Asn) n.195T>A c.35T>A (p.Ile12Asn) c.320T>A (p.Ile107Asn) c.185T>A (p.Ile62Asn) c.-950T>A (n.-950T>A) | |
| 12 | g.101786183T>A | CA6746888 | GNPTAB | c.400A>T (p.Ile134Phe) n.194A>T c.34A>T (p.Ile12Phe) c.319A>T (p.Ile107Phe) c.184A>T (p.Ile62Phe) c.-951A>T (n.-951A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101786183T>C | CA386305126 | GNPTAB | c.400A>G (p.Ile134Val) n.194A>G c.34A>G (p.Ile12Val) c.319A>G (p.Ile107Val) c.184A>G (p.Ile62Val) c.-951A>G (n.-951A>G) | gnomAD v4 |
| 12 | g.101786183T>G | CA386305127 | GNPTAB | c.400A>C (p.Ile134Leu) n.194A>C c.34A>C (p.Ile12Leu) c.319A>C (p.Ile107Leu) c.184A>C (p.Ile62Leu) c.-951A>C (n.-951A>C) | |
| 12 | g.101786183T= | CA2058964863 | GNPTAB | c.400A= (p.Ile134=) n.194A= c.34A= (p.Ile12=) c.319A= (p.Ile107=) c.184A= (p.Ile62=) c.-951A= (n.-951A=) | |
| 12 | g.101786184G>A | CA481326324 | GNPTAB | c.399C>T (p.Cys133=) n.193C>T c.33C>T (p.Cys11=) c.318C>T (p.Cys106=) c.183C>T (p.Cys61=) c.-952C>T (n.-952C>T) | |
| 12 | g.101786184G>C | CA386305128 | GNPTAB | c.399C>G (p.Cys133Trp) n.193C>G c.33C>G (p.Cys11Trp) c.318C>G (p.Cys106Trp) c.183C>G (p.Cys61Trp) c.-952C>G (n.-952C>G) | |
| 12 | g.101786184G>T | CA386305129 | GNPTAB | c.399C>A (p.Cys133Ter) n.193C>A c.33C>A (p.Cys11Ter) c.318C>A (p.Cys106Ter) c.183C>A (p.Cys61Ter) c.-952C>A (n.-952C>A) | |
| 12 | g.101786185C>A | CA386305130 | GNPTAB | c.398G>T (p.Cys133Phe) n.192G>T c.32G>T (p.Cys11Phe) c.317G>T (p.Cys106Phe) c.182G>T (p.Cys61Phe) c.-953G>T (n.-953G>T) | |
| 12 | g.101786185C>G | CA386305131 | GNPTAB | c.398G>C (p.Cys133Ser) n.192G>C c.32G>C (p.Cys11Ser) c.317G>C (p.Cys106Ser) c.182G>C (p.Cys61Ser) c.-953G>C (n.-953G>C) | |
| 12 | g.101786185C>T | CA386305132 | GNPTAB | c.398G>A (p.Cys133Tyr) n.192G>A c.32G>A (p.Cys11Tyr) c.317G>A (p.Cys106Tyr) c.182G>A (p.Cys61Tyr) c.-953G>A (n.-953G>A) | |
| 12 | g.101786186A>C | CA386305135 | GNPTAB | c.397T>G (p.Cys133Gly) n.191T>G c.31T>G (p.Cys11Gly) c.316T>G (p.Cys106Gly) c.181T>G (p.Cys61Gly) c.-954T>G (n.-954T>G) | gnomAD v4 |
| 12 | g.101786186A>G | CA386305134 | GNPTAB | c.397T>C (p.Cys133Arg) n.191T>C c.31T>C (p.Cys11Arg) c.316T>C (p.Cys106Arg) c.181T>C (p.Cys61Arg) c.-954T>C (n.-954T>C) | |
| 12 | g.101786186A>T | CA386305133 | GNPTAB | c.397T>A (p.Cys133Ser) n.191T>A c.31T>A (p.Cys11Ser) c.316T>A (p.Cys106Ser) c.181T>A (p.Cys61Ser) c.-954T>A (n.-954T>A) | |
| 12 | g.101786187G>A | CA481326325 | GNPTAB | c.396C>T (p.His132=) n.190C>T c.30C>T (p.His10=) c.315C>T (p.His105=) c.180C>T (p.His60=) c.-955C>T (n.-955C>T) | COSMIC |
| 12 | g.101786187G>C | CA6746889 | GNPTAB | c.396C>G (p.His132Gln) n.190C>G c.30C>G (p.His10Gln) c.315C>G (p.His105Gln) c.180C>G (p.His60Gln) c.-955C>G (n.-955C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101786187G= | CA2058964864 | GNPTAB | c.396C= (p.His132=) n.190C= c.30C= (p.His10=) c.315C= (p.His105=) c.180C= (p.His60=) c.-955C= (n.-955C=) | |
| 12 | g.101786187G>T | CA386305136 | GNPTAB | c.396C>A (p.His132Gln) n.190C>A c.30C>A (p.His10Gln) c.315C>A (p.His105Gln) c.180C>A (p.His60Gln) c.-955C>A (n.-955C>A) | gnomAD v4 |
| 12 | g.101786188T>A | CA386305137 | GNPTAB | c.395A>T (p.His132Leu) n.189A>T c.29A>T (p.His10Leu) c.314A>T (p.His105Leu) c.179A>T (p.His60Leu) c.-956A>T (n.-956A>T) | |
| 12 | g.101786188T>C | CA386305139 | GNPTAB | c.395A>G (p.His132Arg) n.189A>G c.29A>G (p.His10Arg) c.314A>G (p.His105Arg) c.179A>G (p.His60Arg) c.-956A>G (n.-956A>G) | |
| 12 | g.101786188T>G | CA386305138 | GNPTAB | c.395A>C (p.His132Pro) n.189A>C c.29A>C (p.His10Pro) c.314A>C (p.His105Pro) c.179A>C (p.His60Pro) c.-956A>C (n.-956A>C) | |
| 12 | g.101786189G>A | CA386305140 | GNPTAB | c.394C>T (p.His132Tyr) n.188C>T c.28C>T (p.His10Tyr) c.313C>T (p.His105Tyr) c.178C>T (p.His60Tyr) c.-957C>T (n.-957C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101786189G>C | CA386305142 | GNPTAB | c.394C>G (p.His132Asp) n.188C>G c.28C>G (p.His10Asp) c.313C>G (p.His105Asp) c.178C>G (p.His60Asp) c.-957C>G (n.-957C>G) | |
| 12 | g.101786189G= | CA2058964865 | GNPTAB | c.394C= (p.His132=) n.188C= c.28C= (p.His10=) c.313C= (p.His105=) c.178C= (p.His60=) c.-957C= (n.-957C=) | |
| 12 | g.101786189G>T | CA386305141 | GNPTAB | c.394C>A (p.His132Asn) n.188C>A c.28C>A (p.His10Asn) c.313C>A (p.His105Asn) c.178C>A (p.His60Asn) c.-957C>A (n.-957C>A) | |
| 12 | g.101786190T>A | CA481326326 | GNPTAB | c.393A>T (p.Thr131=) n.187A>T c.27A>T (p.Thr9=) c.312A>T (p.Thr104=) c.177A>T (p.Thr59=) c.-958A>T (n.-958A>T) | |
| 12 | g.101786190T>C | CA481326327 | GNPTAB | c.393A>G (p.Thr131=) n.187A>G c.27A>G (p.Thr9=) c.312A>G (p.Thr104=) c.177A>G (p.Thr59=) c.-958A>G (n.-958A>G) | COSMIC COSMIC |
| 12 | g.101786190T>G | CA481326328 | GNPTAB | c.393A>C (p.Thr131=) n.187A>C c.27A>C (p.Thr9=) c.312A>C (p.Thr104=) c.177A>C (p.Thr59=) c.-958A>C (n.-958A>C) | |
| 12 | g.101786191G>A | CA386305143 | GNPTAB | c.392C>T (p.Thr131Ile) n.186C>T c.26C>T (p.Thr9Ile) c.311C>T (p.Thr104Ile) c.176C>T (p.Thr59Ile) c.-959C>T (n.-959C>T) | gnomAD v4 |
| 12 | g.101786191G>C | CA386305144 | GNPTAB | c.392C>G (p.Thr131Arg) n.186C>G c.26C>G (p.Thr9Arg) c.311C>G (p.Thr104Arg) c.176C>G (p.Thr59Arg) c.-959C>G (n.-959C>G) | |
| 12 | g.101786191G>T | CA386305145 | GNPTAB | c.392C>A (p.Thr131Lys) n.186C>A c.26C>A (p.Thr9Lys) c.311C>A (p.Thr104Lys) c.176C>A (p.Thr59Lys) c.-959C>A (n.-959C>A) | |
| 12 | g.101786192T>A | CA386305146 | GNPTAB | c.391A>T (p.Thr131Ser) n.185A>T c.25A>T (p.Thr9Ser) c.310A>T (p.Thr104Ser) c.175A>T (p.Thr59Ser) c.-960A>T (n.-960A>T) | |
| 12 | g.101786192T>C | CA386305147 | GNPTAB | c.391A>G (p.Thr131Ala) n.185A>G c.25A>G (p.Thr9Ala) c.310A>G (p.Thr104Ala) c.175A>G (p.Thr59Ala) c.-960A>G (n.-960A>G) | dbSNP |
| 12 | g.101786192T>G | CA386305148 | GNPTAB | c.391A>C (p.Thr131Pro) n.185A>C c.25A>C (p.Thr9Pro) c.310A>C (p.Thr104Pro) c.175A>C (p.Thr59Pro) c.-960A>C (n.-960A>C) | |
| 12 | g.101786192T= | CA2058964866 | GNPTAB | c.391A= (p.Thr131=) n.185A= c.25A= (p.Thr9=) c.310A= (p.Thr104=) c.175A= (p.Thr59=) c.-960A= (n.-960A=) | |
| 12 | g.101786193T>A | CA481326329 | GNPTAB | c.390A>T (p.Leu130=) n.184A>T c.24A>T (p.Leu8=) c.309A>T (p.Leu103=) c.174A>T (p.Leu58=) c.-961A>T (n.-961A>T) | |
| 12 | g.101786193T>C | CA6746890 | GNPTAB | c.390A>G (p.Leu130=) n.184A>G c.24A>G (p.Leu8=) c.309A>G (p.Leu103=) c.174A>G (p.Leu58=) c.-961A>G (n.-961A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101786193T>G | CA481326330 | GNPTAB | c.390A>C (p.Leu130=) n.184A>C c.24A>C (p.Leu8=) c.309A>C (p.Leu103=) c.174A>C (p.Leu58=) c.-961A>C (n.-961A>C) | |
| 12 | g.101786193T= | CA2058964867 | GNPTAB | c.390A= (p.Leu130=) n.184A= c.24A= (p.Leu8=) c.309A= (p.Leu103=) c.174A= (p.Leu58=) c.-961A= (n.-961A=) | |
| 12 | g.101786194A>C | CA386305149 | GNPTAB | c.389T>G (p.Leu130Arg) n.183T>G c.23T>G (p.Leu8Arg) c.308T>G (p.Leu103Arg) c.173T>G (p.Leu58Arg) c.-962T>G (n.-962T>G) | |
| 12 | g.101786194A>G | CA386305150 | GNPTAB | c.389T>C (p.Leu130Pro) n.183T>C c.23T>C (p.Leu8Pro) c.308T>C (p.Leu103Pro) c.173T>C (p.Leu58Pro) c.-962T>C (n.-962T>C) | |
| 12 | g.101786194A>T | CA386305151 | GNPTAB | c.389T>A (p.Leu130Gln) n.183T>A c.23T>A (p.Leu8Gln) c.308T>A (p.Leu103Gln) c.173T>A (p.Leu58Gln) c.-962T>A (n.-962T>A) | |
| 12 | g.101786195G>A | CA481326331 | GNPTAB | c.388C>T (p.Leu130=) n.182C>T c.22C>T (p.Leu8=) c.307C>T (p.Leu103=) c.172C>T (p.Leu58=) c.-963C>T (n.-963C>T) | |
| 12 | g.101786195G>C | CA386305152 | GNPTAB | c.388C>G (p.Leu130Val) n.182C>G c.22C>G (p.Leu8Val) c.307C>G (p.Leu103Val) c.172C>G (p.Leu58Val) c.-963C>G (n.-963C>G) | |
| 12 | g.101786195G>T | CA386305153 | GNPTAB | c.388C>A (p.Leu130Ile) n.182C>A c.22C>A (p.Leu8Ile) c.307C>A (p.Leu103Ile) c.172C>A (p.Leu58Ile) c.-963C>A (n.-963C>A) | |
| 12 | g.101786196C>A | CA386305154 | GNPTAB | c.387G>T (p.Leu129Phe) n.181G>T c.21G>T (p.Leu7Phe) c.306G>T (p.Leu102Phe) c.171G>T (p.Leu57Phe) c.-964G>T (n.-964G>T) | |
| 12 | g.101786196C>G | CA386305155 | GNPTAB | c.387G>C (p.Leu129Phe) n.181G>C c.21G>C (p.Leu7Phe) c.306G>C (p.Leu102Phe) c.171G>C (p.Leu57Phe) c.-964G>C (n.-964G>C) | |
| 12 | g.101786196C>T | CA481326332 | GNPTAB | c.387G>A (p.Leu129=) n.181G>A c.21G>A (p.Leu7=) c.306G>A (p.Leu102=) c.171G>A (p.Leu57=) c.-964G>A (n.-964G>A) | |
| 12 | g.101786197A= | CA2058964868 | GNPTAB | c.386T= (p.Leu129=) n.180T= c.20T= (p.Leu7=) c.305T= (p.Leu102=) c.170T= (p.Leu57=) c.-965T= (n.-965T=) | |
| 12 | g.101786197A>C | CA386305156 | GNPTAB | c.386T>G (p.Leu129Trp) n.180T>G c.20T>G (p.Leu7Trp) c.305T>G (p.Leu102Trp) c.170T>G (p.Leu57Trp) c.-965T>G (n.-965T>G) | |
| 12 | g.101786197A>G | CA386305157 | GNPTAB | c.386T>C (p.Leu129Ser) n.180T>C c.20T>C (p.Leu7Ser) c.305T>C (p.Leu102Ser) c.170T>C (p.Leu57Ser) c.-965T>C (n.-965T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101786197A>T | CA386305158 | GNPTAB | c.386T>A (p.Leu129Ter) n.180T>A c.20T>A (p.Leu7Ter) c.305T>A (p.Leu102Ter) c.170T>A (p.Leu57Ter) c.-965T>A (n.-965T>A) | |
| 12 | g.101786198_101786199del | CA2575265191 | GNPTAB | c.385_386del (p.Leu129AlafsTer6) n.179_180del c.19_20del (p.Leu7AlafsTer6) c.304_305del (p.Leu102AlafsTer6) c.169_170del (p.Leu57AlafsTer6) c.-966_-965del (n.-966_-965del) | |
| 12 | g.101786198A>C | CA386305159 | GNPTAB | c.385T>G (p.Leu129Val) n.179T>G c.19T>G (p.Leu7Val) c.304T>G (p.Leu102Val) c.169T>G (p.Leu57Val) c.-966T>G (n.-966T>G) | |
| 12 | g.101786198A>G | CA481326333 | GNPTAB | c.385T>C (p.Leu129=) n.179T>C c.19T>C (p.Leu7=) c.304T>C (p.Leu102=) c.169T>C (p.Leu57=) c.-966T>C (n.-966T>C) | |
| 12 | g.101786198A>T | CA386305160 | GNPTAB | c.385T>A (p.Leu129Met) n.179T>A c.19T>A (p.Leu7Met) c.304T>A (p.Leu102Met) c.169T>A (p.Leu57Met) c.-966T>A (n.-966T>A) | |
| 12 | g.101786199A>C | CA386305161 | GNPTAB | c.384T>G (p.Cys128Trp) n.178T>G c.18T>G (p.Cys6Trp) c.303T>G (p.Cys101Trp) c.168T>G (p.Cys56Trp) c.-967T>G (n.-967T>G) | |
| 12 | g.101786199A>G | CA481326334 | GNPTAB | c.384T>C (p.Cys128=) n.178T>C c.18T>C (p.Cys6=) c.303T>C (p.Cys101=) c.168T>C (p.Cys56=) c.-967T>C (n.-967T>C) | |
| 12 | g.101786199A>T | CA386305162 | GNPTAB | c.384T>A (p.Cys128Ter) n.178T>A c.18T>A (p.Cys6Ter) c.303T>A (p.Cys101Ter) c.168T>A (p.Cys56Ter) c.-967T>A (n.-967T>A) | |
| 12 | g.101786200C>A | CA386305163 | GNPTAB | c.383G>T (p.Cys128Phe) n.177G>T c.17G>T (p.Cys6Phe) c.302G>T (p.Cys101Phe) c.167G>T (p.Cys56Phe) c.-968G>T (n.-968G>T) | |
| 12 | g.101786200C>G | CA386305164 | GNPTAB | c.383G>C (p.Cys128Ser) n.177G>C c.17G>C (p.Cys6Ser) c.302G>C (p.Cys101Ser) c.167G>C (p.Cys56Ser) c.-968G>C (n.-968G>C) | |
| 12 | g.101786200C>T | CA386305165 | GNPTAB | c.383G>A (p.Cys128Tyr) n.177G>A c.17G>A (p.Cys6Tyr) c.302G>A (p.Cys101Tyr) c.167G>A (p.Cys56Tyr) c.-968G>A (n.-968G>A) | gnomAD v4 |
| 12 | g.101786201A>C | CA386305168 | GNPTAB | c.382T>G (p.Cys128Gly) n.176T>G c.16T>G (p.Cys6Gly) c.301T>G (p.Cys101Gly) c.166T>G (p.Cys56Gly) c.-969T>G (n.-969T>G) | gnomAD v4 |
| 12 | g.101786201A>G | CA386305167 | GNPTAB | c.382T>C (p.Cys128Arg) n.176T>C c.16T>C (p.Cys6Arg) c.301T>C (p.Cys101Arg) c.166T>C (p.Cys56Arg) c.-969T>C (n.-969T>C) | |
| 12 | g.101786201A>T | CA386305166 | GNPTAB | c.382T>A (p.Cys128Ser) n.176T>A c.16T>A (p.Cys6Ser) c.301T>A (p.Cys101Ser) c.166T>A (p.Cys56Ser) c.-969T>A (n.-969T>A) | |
| 12 | g.101786202C>A | CA386305169 | GNPTAB | c.381G>T (p.Glu127Asp) n.175G>T c.15G>T (p.Glu5Asp) c.300G>T (p.Glu100Asp) c.165G>T (p.Glu55Asp) c.-970G>T (n.-970G>T) | |
| 12 | g.101786202C= | CA2058964869 | GNPTAB | c.381G= (p.Glu127=) n.175G= c.15G= (p.Glu5=) c.300G= (p.Glu100=) c.165G= (p.Glu55=) c.-970G= (n.-970G=) | |
| 12 | g.101786202C>G | CA386305170 | GNPTAB | c.381G>C (p.Glu127Asp) n.175G>C c.15G>C (p.Glu5Asp) c.300G>C (p.Glu100Asp) c.165G>C (p.Glu55Asp) c.-970G>C (n.-970G>C) | |
| 12 | g.101786202C>T | CA481326335 | GNPTAB | c.381G>A (p.Glu127=) n.175G>A c.15G>A (p.Glu5=) c.300G>A (p.Glu100=) c.165G>A (p.Glu55=) c.-970G>A (n.-970G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101786204_101786205del | CA2580616839 | GNPTAB | c.380_381del (p.Glu127ValfsTer8) n.174_175del c.14_15del (p.Glu5ValfsTer8) c.299_300del (p.Glu100ValfsTer8) c.164_165del (p.Glu55ValfsTer8) c.-971_-970del (n.-971_-970del) | ClinVar gnomAD v4 |
| 12 | g.101786203T>A | CA386305171 | GNPTAB | c.380A>T (p.Glu127Val) n.174A>T c.14A>T (p.Glu5Val) c.299A>T (p.Glu100Val) c.164A>T (p.Glu55Val) c.-971A>T (n.-971A>T) | |
| 12 | g.101786203T>C | CA386305172 | GNPTAB | c.380A>G (p.Glu127Gly) n.174A>G c.14A>G (p.Glu5Gly) c.299A>G (p.Glu100Gly) c.164A>G (p.Glu55Gly) c.-971A>G (n.-971A>G) | |
| 12 | g.101786203T>G | CA386305173 | GNPTAB | c.380A>C (p.Glu127Ala) n.174A>C c.14A>C (p.Glu5Ala) c.299A>C (p.Glu100Ala) c.164A>C (p.Glu55Ala) c.-971A>C (n.-971A>C) | |
| 12 | g.101786204C>A | CA386305174 | GNPTAB | c.379G>T (p.Glu127Ter) n.173G>T c.13G>T (p.Glu5Ter) c.298G>T (p.Glu100Ter) c.163G>T (p.Glu55Ter) c.-972G>T (n.-972G>T) | |
| 12 | g.101786204C= | CA2058964870 | GNPTAB | c.379G= (p.Glu127=) n.173G= c.13G= (p.Glu5=) c.298G= (p.Glu100=) c.163G= (p.Glu55=) c.-972G= (n.-972G=) | |
| 12 | g.101786204C>G | CA386305175 | GNPTAB | c.379G>C (p.Glu127Gln) n.173G>C c.13G>C (p.Glu5Gln) c.298G>C (p.Glu100Gln) c.163G>C (p.Glu55Gln) c.-972G>C (n.-972G>C) | |
| 12 | g.101786204C>T | CA386305176 | GNPTAB | c.379G>A (p.Glu127Lys) n.173G>A c.13G>A (p.Glu5Lys) c.298G>A (p.Glu100Lys) c.163G>A (p.Glu55Lys) c.-972G>A (n.-972G>A) | |
| 12 | g.101786206_101786209del | CA481326336 | GNPTAB | c.376_379del (p.Leu126SerfsTer4) n.170_173del c.10_13del (p.Leu4SerfsTer4) c.295_298del (p.Leu99SerfsTer4) c.160_163del (p.Leu54SerfsTer4) c.-975_-972del (n.-975_-972del) | gnomAD v4 |
| 12 | g.101786205T>A | CA386305177 | GNPTAB | c.378A>T (p.Leu126Phe) n.172A>T c.12A>T (p.Leu4Phe) c.297A>T (p.Leu99Phe) c.162A>T (p.Leu54Phe) c.-973A>T (n.-973A>T) | |
| 12 | g.101786205T>C | CA6746891 | GNPTAB | c.378A>G (p.Leu126=) n.172A>G c.12A>G (p.Leu4=) c.297A>G (p.Leu99=) c.162A>G (p.Leu54=) c.-973A>G (n.-973A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101786205T>G | CA386305178 | GNPTAB | c.378A>C (p.Leu126Phe) n.172A>C c.12A>C (p.Leu4Phe) c.297A>C (p.Leu99Phe) c.162A>C (p.Leu54Phe) c.-973A>C (n.-973A>C) | |
| 12 | g.101786205T= | CA2058964871 | GNPTAB | c.378A= (p.Leu126=) n.172A= c.12A= (p.Leu4=) c.297A= (p.Leu99=) c.162A= (p.Leu54=) c.-973A= (n.-973A=) | |
| 12 | g.101786205dup | CA16609434 | GNPTAB | c.378dup (p.Glu127ArgfsTer9) n.172dup c.12dup (p.Glu5ArgfsTer9) c.297dup (p.Glu100ArgfsTer9) c.162dup (p.Glu55ArgfsTer9) c.-973dup (n.-973dup) | ClinVar dbSNP gnomAD v4 |
| 12 | g.101786206A= | CA2058964872 | GNPTAB | c.377T= (p.Leu126=) n.171T= c.11T= (p.Leu4=) c.296T= (p.Leu99=) c.161T= (p.Leu54=) c.-974T= (n.-974T=) | |
| 12 | g.101786206A>C | CA386305180 | GNPTAB | c.377T>G (p.Leu126Ter) n.171T>G c.11T>G (p.Leu4Ter) c.296T>G (p.Leu99Ter) c.161T>G (p.Leu54Ter) c.-974T>G (n.-974T>G) | |
| 12 | g.101786206A>G | CA386305179 | GNPTAB | c.377T>C (p.Leu126Ser) n.171T>C c.11T>C (p.Leu4Ser) c.296T>C (p.Leu99Ser) c.161T>C (p.Leu54Ser) c.-974T>C (n.-974T>C) | |
| 12 | g.101786206A>T | CA275310 | GNPTAB | c.377T>A (p.Leu126Ter) n.171T>A c.11T>A (p.Leu4Ter) c.296T>A (p.Leu99Ter) c.161T>A (p.Leu54Ter) c.-974T>A (n.-974T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101786207A>C | CA386305181 | GNPTAB | c.376T>G (p.Leu126Val) n.170T>G c.10T>G (p.Leu4Val) c.295T>G (p.Leu99Val) c.160T>G (p.Leu54Val) c.-975T>G (n.-975T>G) | |
| 12 | g.101786207A>G | CA481326337 | GNPTAB | c.376T>C (p.Leu126=) n.170T>C c.10T>C (p.Leu4=) c.295T>C (p.Leu99=) c.160T>C (p.Leu54=) c.-975T>C (n.-975T>C) | |
| 12 | g.101786207A>T | CA386305182 | GNPTAB | c.376T>A (p.Leu126Ile) n.170T>A c.10T>A (p.Leu4Ile) c.295T>A (p.Leu99Ile) c.160T>A (p.Leu54Ile) c.-975T>A (n.-975T>A) | |
| 12 | g.101786208C>A | CA386305183 | GNPTAB | c.375G>T (p.Gln125His) n.169G>T c.9G>T (p.Gln3His) c.294G>T (p.Gln98His) c.159G>T (p.Gln53His) c.-976G>T (n.-976G>T) | |
| 12 | g.101786208C>G | CA386305184 | GNPTAB | c.375G>C (p.Gln125His) n.169G>C c.9G>C (p.Gln3His) c.294G>C (p.Gln98His) c.159G>C (p.Gln53His) c.-976G>C (n.-976G>C) | |
| 12 | g.101786208C>T | CA481326338 | GNPTAB | c.375G>A (p.Gln125=) n.169G>A c.9G>A (p.Gln3=) c.294G>A (p.Gln98=) c.159G>A (p.Gln53=) c.-976G>A (n.-976G>A) | |
| 12 | g.101786209T>A | CA386305185 | GNPTAB | c.374A>T (p.Gln125Leu) n.168A>T c.8A>T (p.Gln3Leu) c.293A>T (p.Gln98Leu) c.158A>T (p.Gln53Leu) c.-977A>T (n.-977A>T) | gnomAD v4 |
| 12 | g.101786209T>C | CA386305186 | GNPTAB | c.374A>G (p.Gln125Arg) n.168A>G c.8A>G (p.Gln3Arg) c.293A>G (p.Gln98Arg) c.158A>G (p.Gln53Arg) c.-977A>G (n.-977A>G) | |
| 12 | g.101786209T>G | CA386305187 | GNPTAB | c.374A>C (p.Gln125Pro) n.168A>C c.8A>C (p.Gln3Pro) c.293A>C (p.Gln98Pro) c.158A>C (p.Gln53Pro) c.-977A>C (n.-977A>C) | |
| 12 | g.101786210G>A | CA386305188 | GNPTAB | c.373C>T (p.Gln125Ter) n.167C>T c.7C>T (p.Gln3Ter) c.292C>T (p.Gln98Ter) c.157C>T (p.Gln53Ter) c.-978C>T (n.-978C>T) | |
| 12 | g.101786210G>C | CA386305189 | GNPTAB | c.373C>G (p.Gln125Glu) n.167C>G c.7C>G (p.Gln3Glu) c.292C>G (p.Gln98Glu) c.157C>G (p.Gln53Glu) c.-978C>G (n.-978C>G) | |
| 12 | g.101786210G>T | CA386305190 | GNPTAB | c.373C>A (p.Gln125Lys) n.167C>A c.7C>A (p.Gln3Lys) c.292C>A (p.Gln98Lys) c.157C>A (p.Gln53Lys) c.-978C>A (n.-978C>A) | |
| 12 | g.101786211C>A | CA386305191 | GNPTAB | c.372G>T (p.Lys124Asn) n.166G>T c.6G>T (p.Lys2Asn) c.291G>T (p.Lys97Asn) c.156G>T (p.Lys52Asn) c.-979G>T (n.-979G>T) | |
| 12 | g.101786211C= | CA2058964873 | GNPTAB | c.372G= (p.Lys124=) n.166G= c.6G= (p.Lys2=) c.291G= (p.Lys97=) c.156G= (p.Lys52=) c.-979G= (n.-979G=) | |
| 12 | g.101786211C>G | CA386305192 | GNPTAB | c.372G>C (p.Lys124Asn) n.166G>C c.6G>C (p.Lys2Asn) c.291G>C (p.Lys97Asn) c.156G>C (p.Lys52Asn) c.-979G>C (n.-979G>C) | |
| 12 | g.101786211C>T | CA6746892 | GNPTAB | c.372G>A (p.Lys124=) n.166G>A c.6G>A (p.Lys2=) c.291G>A (p.Lys97=) c.156G>A (p.Lys52=) c.-979G>A (n.-979G>A) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 12 | g.101786212T>A | CA386305194 | GNPTAB | c.371A>T (p.Lys124Met) n.165A>T c.5A>T (p.Lys2Met) c.290A>T (p.Lys97Met) c.155A>T (p.Lys52Met) c.-980A>T (n.-980A>T) | |
| 12 | g.101786212T>C | CA386305195 | GNPTAB | c.371A>G (p.Lys124Arg) n.165A>G c.5A>G (p.Lys2Arg) c.290A>G (p.Lys97Arg) c.155A>G (p.Lys52Arg) c.-980A>G (n.-980A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101786212T>G | CA386305193 | GNPTAB | c.371A>C (p.Lys124Thr) n.165A>C c.5A>C (p.Lys2Thr) c.290A>C (p.Lys97Thr) c.155A>C (p.Lys52Thr) c.-980A>C (n.-980A>C) | |
| 12 | g.101786212T= | CA2058964874 | GNPTAB | c.371A= (p.Lys124=) n.165A= c.5A= (p.Lys2=) c.290A= (p.Lys97=) c.155A= (p.Lys52=) c.-980A= (n.-980A=) | |
| 12 | g.101786213T>A | CA386305198 | GNPTAB | c.370A>T (p.Lys124Ter) n.164A>T c.4A>T (p.Lys2Ter) c.289A>T (p.Lys97Ter) c.154A>T (p.Lys52Ter) c.-981A>T (n.-981A>T) | |
| 12 | g.101786213T>C | CA386305196 | GNPTAB | c.370A>G (p.Lys124Glu) n.164A>G c.4A>G (p.Lys2Glu) c.289A>G (p.Lys97Glu) c.154A>G (p.Lys52Glu) c.-981A>G (n.-981A>G) | |
| 12 | g.101786213T>G | CA386305197 | GNPTAB | c.370A>C (p.Lys124Gln) n.164A>C c.4A>C (p.Lys2Gln) c.289A>C (p.Lys97Gln) c.154A>C (p.Lys52Gln) c.-981A>C (n.-981A>C) | |
| 12 | g.101786214C>A | CA386305199 | GNPTAB | c.369G>T (p.Glu123Asp) n.163G>T c.3G>T (p.Glu1Asp) c.288G>T (p.Glu96Asp) c.153G>T (p.Glu51Asp) c.-982G>T (n.-982G>T) | |
| 12 | g.101786214C>G | CA386305200 | GNPTAB | c.369G>C (p.Glu123Asp) n.163G>C c.3G>C (p.Glu1Asp) c.288G>C (p.Glu96Asp) c.153G>C (p.Glu51Asp) c.-982G>C (n.-982G>C) | |
| 12 | g.101786214C>T | CA481326341 | GNPTAB | c.369G>A (p.Glu123=) n.163G>A c.3G>A (p.Glu1=) c.288G>A (p.Glu96=) c.153G>A (p.Glu51=) c.-982G>A (n.-982G>A) | |
| 12 | g.101786215T>A | CA386305201 | GNPTAB | c.368A>T (p.Glu123Val) n.162A>T c.2A>T (p.Glu1Val) c.287A>T (p.Glu96Val) c.152A>T (p.Glu51Val) c.-983A>T (n.-983A>T) | |
| 12 | g.101786215T>C | CA386305202 | GNPTAB | c.368A>G (p.Glu123Gly) n.162A>G c.2A>G (p.Glu1Gly) c.287A>G (p.Glu96Gly) c.152A>G (p.Glu51Gly) c.-983A>G (n.-983A>G) | |
| 12 | g.101786215T>G | CA386305203 | GNPTAB | c.368A>C (p.Glu123Ala) n.162A>C c.2A>C (p.Glu1Ala) c.287A>C (p.Glu96Ala) c.152A>C (p.Glu51Ala) c.-983A>C (n.-983A>C) | |
| 12 | g.101786216C>A | CA386305204 | GNPTAB | c.367G>T (p.Glu123Ter) n.161G>T c.1G>T (p.Glu1Ter) c.286G>T (p.Glu96Ter) c.151G>T (p.Glu51Ter) c.-984G>T (n.-984G>T) | |
| 12 | g.101786216C>G | CA386305205 | GNPTAB | c.367G>C (p.Glu123Gln) n.161G>C c.1G>C (p.Glu1Gln) c.286G>C (p.Glu96Gln) c.151G>C (p.Glu51Gln) c.-984G>C (n.-984G>C) | |
| 12 | g.101786216C>T | CA386305206 | GNPTAB | c.367G>A (p.Glu123Lys) n.161G>A c.1G>A (p.Glu1Lys) c.286G>A (p.Glu96Lys) c.151G>A (p.Glu51Lys) c.-984G>A (n.-984G>A) | |
| 12 | g.101786217A>C | CA386305207 | GNPTAB | c.366T>G (p.Ser122Arg) n.160T>G c.285T>G (p.Ser95Arg) c.150T>G (p.Ser50Arg) c.-985T>G (n.-985T>G) | gnomAD v4 |
| 12 | g.101786217A>G | CA481326342 | GNPTAB | c.366T>C (p.Ser122=) n.160T>C c.285T>C (p.Ser95=) c.150T>C (p.Ser50=) c.-985T>C (n.-985T>C) | |
| 12 | g.101786217A>T | CA386305208 | GNPTAB | c.366T>A (p.Ser122Arg) n.160T>A c.285T>A (p.Ser95Arg) c.150T>A (p.Ser50Arg) c.-985T>A (n.-985T>A) | gnomAD v4 |
| 12 | g.101786218C>A | CA386305210 | GNPTAB | c.366-1G>T (n.366-1G>T) n.160-1G>T c.285-1G>T (n.285-1G>T) c.150-1G>T (n.150-1G>T) c.-985-1G>T (n.-985-1G>T) | |
| 12 | g.101786218C>G | CA386305211 | GNPTAB | c.366-1G>C (n.366-1G>C) n.160-1G>C c.285-1G>C (n.285-1G>C) c.150-1G>C (n.150-1G>C) c.-985-1G>C (n.-985-1G>C) | |
| 12 | g.101786218C>T | CA386305209 | GNPTAB | c.366-1G>A (n.366-1G>A) n.160-1G>A c.285-1G>A (n.285-1G>A) c.150-1G>A (n.150-1G>A) c.-985-1G>A (n.-985-1G>A) | gnomAD v4 |
| 12 | g.101786219T>A | CA386305212 | GNPTAB | c.366-2A>T (n.366-2A>T) n.160-2A>T c.285-2A>T (n.285-2A>T) c.150-2A>T (n.150-2A>T) c.-985-2A>T (n.-985-2A>T) | |
| 12 | g.101786219T>C | CA386305213 | GNPTAB | c.366-2A>G (n.366-2A>G) n.160-2A>G c.285-2A>G (n.285-2A>G) c.150-2A>G (n.150-2A>G) c.-985-2A>G (n.-985-2A>G) | ClinVar dbSNP |
| 12 | g.101786219T>G | CA386305214 | GNPTAB | c.366-2A>C (n.366-2A>C) n.160-2A>C c.285-2A>C (n.285-2A>C) c.150-2A>C (n.150-2A>C) c.-985-2A>C (n.-985-2A>C) | |
| 12 | g.101786219T= | CA2058964875 | GNPTAB | c.366-2A= (n.366-2A=) n.160-2A= c.285-2A= (n.285-2A=) c.150-2A= (n.150-2A=) c.-985-2A= (n.-985-2A=) | |
| 12 | g.101786220G>A | CA2546501579 | GNPTAB | c.366-3C>T (n.366-3C>T) n.160-3C>T c.285-3C>T (n.285-3C>T) c.150-3C>T (n.150-3C>T) c.-985-3C>T (n.-985-3C>T) |