Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.101785983_101785984delinsATCA2058964764GNPTABc.571+28_571+29delinsAT (n.571+28_571+29delinsAT)
n.393_394delinsAT
c.205+28_205+29delinsAT (n.205+28_205+29delinsAT)
c.490+28_490+29delinsAT (n.490+28_490+29delinsAT)
c.355+28_355+29delinsAT (n.355+28_355+29delinsAT)
c.-780+28_-780+29delinsAT (n.-780+28_-780+29delinsAT)
12g.101785984T>CCA2620445541GNPTABc.571+28A>G (n.571+28A>G)
n.393A>G
c.205+28A>G (n.205+28A>G)
c.490+28A>G (n.490+28A>G)
c.355+28A>G (n.355+28A>G)
c.-780+28A>G (n.-780+28A>G)
 gnomAD v4
12g.101785984T>GCA2620445542GNPTABc.571+28A>C (n.571+28A>C)
n.393A>C
c.205+28A>C (n.205+28A>C)
c.490+28A>C (n.490+28A>C)
c.355+28A>C (n.355+28A>C)
c.-780+28A>C (n.-780+28A>C)
 gnomAD v4
12g.101785987delCA2058964765GNPTABc.571+28del (n.571+28del)
n.393del
c.205+28del (n.205+28del)
c.490+28del (n.490+28del)
c.355+28del (n.355+28del)
c.-780+28del (n.-780+28del)
 dbSNP
12g.101785987T>ACA6746852GNPTABc.571+25A>T (n.571+25A>T)
n.390A>T
c.205+25A>T (n.205+25A>T)
c.490+25A>T (n.490+25A>T)
c.355+25A>T (n.355+25A>T)
c.-780+25A>T (n.-780+25A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101785987T>CCA2797215218GNPTABc.571+25A>G (n.571+25A>G)
n.390A>G
c.205+25A>G (n.205+25A>G)
c.490+25A>G (n.490+25A>G)
c.355+25A>G (n.355+25A>G)
c.-780+25A>G (n.-780+25A>G)
12g.101785987T=CA2058964766GNPTABc.571+25A= (n.571+25A=)
n.390A=
c.205+25A= (n.205+25A=)
c.490+25A= (n.490+25A=)
c.355+25A= (n.355+25A=)
c.-780+25A= (n.-780+25A=)
12g.101785987_101785988delinsTACA2058964767GNPTABc.571+24_571+25delinsTA (n.571+24_571+25delinsTA)
n.389_390delinsTA
c.205+24_205+25delinsTA (n.205+24_205+25delinsTA)
c.490+24_490+25delinsTA (n.490+24_490+25delinsTA)
c.355+24_355+25delinsTA (n.355+24_355+25delinsTA)
c.-780+24_-780+25delinsTA (n.-780+24_-780+25delinsTA)
12g.101785991delCA607598035GNPTABc.571+24del (n.571+24del)
n.389del
c.205+24del (n.205+24del)
c.490+24del (n.490+24del)
c.355+24del (n.355+24del)
c.-780+24del (n.-780+24del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101785990A>GCA2620445551GNPTABc.571+22T>C (n.571+22T>C)
n.387T>C
c.205+22T>C (n.205+22T>C)
c.490+22T>C (n.490+22T>C)
c.355+22T>C (n.355+22T>C)
c.-780+22T>C (n.-780+22T>C)
 gnomAD v4
12g.101785991A>TCA2620445552GNPTABc.571+21T>A (n.571+21T>A)
n.386T>A
c.205+21T>A (n.205+21T>A)
c.490+21T>A (n.490+21T>A)
c.355+21T>A (n.355+21T>A)
c.-780+21T>A (n.-780+21T>A)
 gnomAD v4
12g.101785992T>ACA2620445553GNPTABc.571+20A>T (n.571+20A>T)
n.385A>T
c.205+20A>T (n.205+20A>T)
c.490+20A>T (n.490+20A>T)
c.355+20A>T (n.355+20A>T)
c.-780+20A>T (n.-780+20A>T)
 gnomAD v4
12g.101785992T>GCA2575265190GNPTABc.571+20A>C (n.571+20A>C)
n.385A>C
c.205+20A>C (n.205+20A>C)
c.490+20A>C (n.490+20A>C)
c.355+20A>C (n.355+20A>C)
c.-780+20A>C (n.-780+20A>C)
12g.101785993A>GCA2620445554GNPTABc.571+19T>C (n.571+19T>C)
n.384T>C
c.205+19T>C (n.205+19T>C)
c.490+19T>C (n.490+19T>C)
c.355+19T>C (n.355+19T>C)
c.-780+19T>C (n.-780+19T>C)
 gnomAD v4
12g.101785994T>CCA2620445557GNPTABc.571+18A>G (n.571+18A>G)
n.383A>G
c.205+18A>G (n.205+18A>G)
c.490+18A>G (n.490+18A>G)
c.355+18A>G (n.355+18A>G)
c.-780+18A>G (n.-780+18A>G)
 ClinVar gnomAD v4
12g.101785995C>TCA655263874GNPTABc.571+17G>A (n.571+17G>A)
n.382G>A
c.205+17G>A (n.205+17G>A)
c.490+17G>A (n.490+17G>A)
c.355+17G>A (n.355+17G>A)
c.-780+17G>A (n.-780+17G>A)
 COSMIC
12g.101785996C>TCA2620445558GNPTABc.571+16G>A (n.571+16G>A)
n.381G>A
c.205+16G>A (n.205+16G>A)
c.490+16G>A (n.490+16G>A)
c.355+16G>A (n.355+16G>A)
c.-780+16G>A (n.-780+16G>A)
 gnomAD v4
12g.101785997A=CA2058964768GNPTABc.571+15T= (n.571+15T=)
n.380T=
c.205+15T= (n.205+15T=)
c.490+15T= (n.490+15T=)
c.355+15T= (n.355+15T=)
c.-780+15T= (n.-780+15T=)
12g.101785997A>GCA2620445562GNPTABc.571+15T>C (n.571+15T>C)
n.380T>C
c.205+15T>C (n.205+15T>C)
c.490+15T>C (n.490+15T>C)
c.355+15T>C (n.355+15T>C)
c.-780+15T>C (n.-780+15T>C)
 ClinVar gnomAD v4
12g.101785997A>TCA6746853GNPTABc.571+15T>A (n.571+15T>A)
n.380T>A
c.205+15T>A (n.205+15T>A)
c.490+15T>A (n.490+15T>A)
c.355+15T>A (n.355+15T>A)
c.-780+15T>A (n.-780+15T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.101785998T>CCA607598036GNPTABc.571+14A>G (n.571+14A>G)
n.379A>G
c.205+14A>G (n.205+14A>G)
c.490+14A>G (n.490+14A>G)
c.355+14A>G (n.355+14A>G)
c.-780+14A>G (n.-780+14A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101785998T=CA2058964769GNPTABc.571+14A= (n.571+14A=)
n.379A=
c.205+14A= (n.205+14A=)
c.490+14A= (n.490+14A=)
c.355+14A= (n.355+14A=)
c.-780+14A= (n.-780+14A=)
12g.101786003delCA2620445564GNPTABc.571+13del (n.571+13del)
n.378del
c.205+13del (n.205+13del)
c.490+13del (n.490+13del)
c.355+13del (n.355+13del)
c.-780+13del (n.-780+13del)
 gnomAD v4
12g.101786000A=CA2058964770GNPTABc.571+12T= (n.571+12T=)
n.377T=
c.205+12T= (n.205+12T=)
c.490+12T= (n.490+12T=)
c.355+12T= (n.355+12T=)
c.-780+12T= (n.-780+12T=)
12g.101786000A>GCA6746854GNPTABc.571+12T>C (n.571+12T>C)
n.377T>C
c.205+12T>C (n.205+12T>C)
c.490+12T>C (n.490+12T>C)
c.355+12T>C (n.355+12T>C)
c.-780+12T>C (n.-780+12T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101786001A>GCA2620445578GNPTABc.571+11T>C (n.571+11T>C)
n.376T>C
c.205+11T>C (n.205+11T>C)
c.490+11T>C (n.490+11T>C)
c.355+11T>C (n.355+11T>C)
c.-780+11T>C (n.-780+11T>C)
 gnomAD v4
12g.101786002A=CA2058964771GNPTABc.571+10T= (n.571+10T=)
n.375T=
c.205+10T= (n.205+10T=)
c.490+10T= (n.490+10T=)
c.355+10T= (n.355+10T=)
c.-780+10T= (n.-780+10T=)
12g.101786002A>CCA951159244GNPTABc.571+10T>G (n.571+10T>G)
n.375T>G
c.205+10T>G (n.205+10T>G)
c.490+10T>G (n.490+10T>G)
c.355+10T>G (n.355+10T>G)
c.-780+10T>G (n.-780+10T>G)
 dbSNP gnomAD v3 gnomAD v4
12g.101786003A=CA2058964772GNPTABc.571+9T= (n.571+9T=)
n.374T=
c.205+9T= (n.205+9T=)
c.490+9T= (n.490+9T=)
c.355+9T= (n.355+9T=)
c.-780+9T= (n.-780+9T=)
12g.101786003A>CCA682739185GNPTABc.571+9T>G (n.571+9T>G)
n.374T>G
c.205+9T>G (n.205+9T>G)
c.490+9T>G (n.490+9T>G)
c.355+9T>G (n.355+9T>G)
c.-780+9T>G (n.-780+9T>G)
 ClinVar dbSNP
12g.101786004G>CCA2620445586GNPTABc.571+8C>G (n.571+8C>G)
n.373C>G
c.205+8C>G (n.205+8C>G)
c.490+8C>G (n.490+8C>G)
c.355+8C>G (n.355+8C>G)
c.-780+8C>G (n.-780+8C>G)
 ClinVar gnomAD v4
12g.101786004G=CA2058964773GNPTABc.571+8C= (n.571+8C=)
n.373C=
c.205+8C= (n.205+8C=)
c.490+8C= (n.490+8C=)
c.355+8C= (n.355+8C=)
c.-780+8C= (n.-780+8C=)
12g.101786004G>TCA607598037GNPTABc.571+8C>A (n.571+8C>A)
n.373C>A
c.205+8C>A (n.205+8C>A)
c.490+8C>A (n.490+8C>A)
c.355+8C>A (n.355+8C>A)
c.-780+8C>A (n.-780+8C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.101786005A>GCA2573147973GNPTABc.571+7T>C (n.571+7T>C)
n.372T>C
c.205+7T>C (n.205+7T>C)
c.490+7T>C (n.490+7T>C)
c.355+7T>C (n.355+7T>C)
c.-780+7T>C (n.-780+7T>C)
 ClinVar dbSNP gnomAD v4
12g.101786006T>ACA2058964775GNPTABc.571+6A>T (n.571+6A>T)
n.371A>T
c.205+6A>T (n.205+6A>T)
c.490+6A>T (n.490+6A>T)
c.355+6A>T (n.355+6A>T)
c.-780+6A>T (n.-780+6A>T)
 dbSNP gnomAD v4
12g.101786006T>CCA6746855GNPTABc.571+6A>G (n.571+6A>G)
n.371A>G
c.205+6A>G (n.205+6A>G)
c.490+6A>G (n.490+6A>G)
c.355+6A>G (n.355+6A>G)
c.-780+6A>G (n.-780+6A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101786006T=CA2058964774GNPTABc.571+6A= (n.571+6A=)
n.371A=
c.205+6A= (n.205+6A=)
c.490+6A= (n.490+6A=)
c.355+6A= (n.355+6A=)
c.-780+6A= (n.-780+6A=)
12g.101786007C>ACA607598038GNPTABc.571+5G>T (n.571+5G>T)
n.370G>T
c.205+5G>T (n.205+5G>T)
c.490+5G>T (n.490+5G>T)
c.355+5G>T (n.355+5G>T)
c.-780+5G>T (n.-780+5G>T)
 dbSNP gnomAD v2 gnomAD v4
12g.101786007C=CA2058964776GNPTABc.571+5G= (n.571+5G=)
n.370G=
c.205+5G= (n.205+5G=)
c.490+5G= (n.490+5G=)
c.355+5G= (n.355+5G=)
c.-780+5G= (n.-780+5G=)
12g.101786008T>ACA1139662836GNPTABc.571+4A>T (n.571+4A>T)
n.369A>T
c.205+4A>T (n.205+4A>T)
c.490+4A>T (n.490+4A>T)
c.355+4A>T (n.355+4A>T)
c.-780+4A>T (n.-780+4A>T)
 ClinVar dbSNP
12g.101786008T>CCA2740092570GNPTABc.571+4A>G (n.571+4A>G)
n.369A>G
c.205+4A>G (n.205+4A>G)
c.490+4A>G (n.490+4A>G)
c.355+4A>G (n.355+4A>G)
c.-780+4A>G (n.-780+4A>G)
 ClinVar
12g.101786008T>GCA2620445599GNPTABc.571+4A>C (n.571+4A>C)
n.369A>C
c.205+4A>C (n.205+4A>C)
c.490+4A>C (n.490+4A>C)
c.355+4A>C (n.355+4A>C)
c.-780+4A>C (n.-780+4A>C)
 gnomAD v4
12g.101786008T=CA2058964777GNPTABc.571+4A= (n.571+4A=)
n.369A=
c.205+4A= (n.205+4A=)
c.490+4A= (n.490+4A=)
c.355+4A= (n.355+4A=)
c.-780+4A= (n.-780+4A=)
12g.101786009T>CCA6746856GNPTABc.571+3A>G (n.571+3A>G)
n.368A>G
c.205+3A>G (n.205+3A>G)
c.490+3A>G (n.490+3A>G)
c.355+3A>G (n.355+3A>G)
c.-780+3A>G (n.-780+3A>G)
 dbSNP ExAC gnomAD v4
12g.101786009T>GCA343410GNPTABc.571+3A>C (n.571+3A>C)
n.368A>C
c.205+3A>C (n.205+3A>C)
c.490+3A>C (n.490+3A>C)
c.355+3A>C (n.355+3A>C)
c.-780+3A>C (n.-780+3A>C)
 ClinVar dbSNP
12g.101786009T=CA2058964778GNPTABc.571+3A= (n.571+3A=)
n.368A=
c.205+3A= (n.205+3A=)
c.490+3A= (n.490+3A=)
c.355+3A= (n.355+3A=)
c.-780+3A= (n.-780+3A=)
12g.101786010A>CCA386304768GNPTABc.571+2T>G (n.571+2T>G)
n.367T>G
c.205+2T>G (n.205+2T>G)
c.490+2T>G (n.490+2T>G)
c.355+2T>G (n.355+2T>G)
c.-780+2T>G (n.-780+2T>G)
12g.101786010A>GCA386304767GNPTABc.571+2T>C (n.571+2T>C)
n.367T>C
c.205+2T>C (n.205+2T>C)
c.490+2T>C (n.490+2T>C)
c.355+2T>C (n.355+2T>C)
c.-780+2T>C (n.-780+2T>C)
12g.101786010A>TCA386304766GNPTABc.571+2T>A (n.571+2T>A)
n.367T>A
c.205+2T>A (n.205+2T>A)
c.490+2T>A (n.490+2T>A)
c.355+2T>A (n.355+2T>A)
c.-780+2T>A (n.-780+2T>A)
12g.101786011C>ACA386304769GNPTABc.571+1G>T (n.571+1G>T)
n.366G>T
c.205+1G>T (n.205+1G>T)
c.490+1G>T (n.490+1G>T)
c.355+1G>T (n.355+1G>T)
c.-780+1G>T (n.-780+1G>T)
12g.101786011C=CA2058964779GNPTABc.571+1G= (n.571+1G=)
n.366G=
c.205+1G= (n.205+1G=)
c.490+1G= (n.490+1G=)
c.355+1G= (n.355+1G=)
c.-780+1G= (n.-780+1G=)
12g.101786011C>GCA386304770GNPTABc.571+1G>C (n.571+1G>C)
n.366G>C
c.205+1G>C (n.205+1G>C)
c.490+1G>C (n.490+1G>C)
c.355+1G>C (n.355+1G>C)
c.-780+1G>C (n.-780+1G>C)
 dbSNP gnomAD v3 gnomAD v4
12g.101786011C>TCA386304771GNPTABc.571+1G>A (n.571+1G>A)
n.366G>A
c.205+1G>A (n.205+1G>A)
c.490+1G>A (n.490+1G>A)
c.355+1G>A (n.355+1G>A)
c.-780+1G>A (n.-780+1G>A)
 ClinVar dbSNP
12g.101786012C>ACA386304772GNPTABc.571G>T (p.Val191Phe)
n.365G>T
c.205G>T (p.Val69Phe)
c.490G>T (p.Val164Phe)
c.355G>T (p.Val119Phe)
c.-780G>T (n.-780G>T)
12g.101786012C=CA2058964780GNPTABc.571G= (p.Val191=)
n.365G=
c.205G= (p.Val69=)
c.490G= (p.Val164=)
c.355G= (p.Val119=)
c.-780G= (n.-780G=)
12g.101786012C>GCA386304773GNPTABc.571G>C (p.Val191Leu)
n.365G>C
c.205G>C (p.Val69Leu)
c.490G>C (p.Val164Leu)
c.355G>C (p.Val119Leu)
c.-780G>C (n.-780G>C)
12g.101786012C>TCA6746857GNPTABc.571G>A (p.Val191Ile)
n.365G>A
c.205G>A (p.Val69Ile)
c.490G>A (p.Val164Ile)
c.355G>A (p.Val119Ile)
c.-780G>A (n.-780G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.101786013A>CCA386304774GNPTABc.570T>G (p.Asp190Glu)
n.364T>G
c.204T>G (p.Asp68Glu)
c.489T>G (p.Asp163Glu)
c.354T>G (p.Asp118Glu)
c.-781T>G (n.-781T>G)
12g.101786013A>GCA481326161GNPTABc.570T>C (p.Asp190=)
n.364T>C
c.204T>C (p.Asp68=)
c.489T>C (p.Asp163=)
c.354T>C (p.Asp118=)
c.-781T>C (n.-781T>C)
12g.101786013A>TCA386304775GNPTABc.570T>A (p.Asp190Glu)
n.364T>A
c.204T>A (p.Asp68Glu)
c.489T>A (p.Asp163Glu)
c.354T>A (p.Asp118Glu)
c.-781T>A (n.-781T>A)
12g.101786014T>ACA343083GNPTABc.569A>T (p.Asp190Val)
n.363A>T
c.203A>T (p.Asp68Val)
c.488A>T (p.Asp163Val)
c.353A>T (p.Asp118Val)
c.-782A>T (n.-782A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101786014T>CCA6746858GNPTABc.569A>G (p.Asp190Gly)
n.363A>G
c.203A>G (p.Asp68Gly)
c.488A>G (p.Asp163Gly)
c.353A>G (p.Asp118Gly)
c.-782A>G (n.-782A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101786014T>GCA386304776GNPTABc.569A>C (p.Asp190Ala)
n.363A>C
c.203A>C (p.Asp68Ala)
c.488A>C (p.Asp163Ala)
c.353A>C (p.Asp118Ala)
c.-782A>C (n.-782A>C)
12g.101786014T=CA2058964781GNPTABc.569A= (p.Asp190=)
n.363A=
c.203A= (p.Asp68=)
c.488A= (p.Asp163=)
c.353A= (p.Asp118=)
c.-782A= (n.-782A=)
12g.101786015C>ACA386304777GNPTABc.568G>T (p.Asp190Tyr)
n.362G>T
c.202G>T (p.Asp68Tyr)
c.487G>T (p.Asp163Tyr)
c.352G>T (p.Asp118Tyr)
c.-783G>T (n.-783G>T)
12g.101786015C>GCA386304778GNPTABc.568G>C (p.Asp190His)
n.362G>C
c.202G>C (p.Asp68His)
c.487G>C (p.Asp163His)
c.352G>C (p.Asp118His)
c.-783G>C (n.-783G>C)
12g.101786015C>TCA386304779GNPTABc.568G>A (p.Asp190Asn)
n.362G>A
c.202G>A (p.Asp68Asn)
c.487G>A (p.Asp163Asn)
c.352G>A (p.Asp118Asn)
c.-783G>A (n.-783G>A)
12g.101786016C>ACA386304780GNPTABc.567G>T (p.Lys189Asn)
n.361G>T
c.201G>T (p.Lys67Asn)
c.486G>T (p.Lys162Asn)
c.351G>T (p.Lys117Asn)
c.-784G>T (n.-784G>T)
12g.101786016C>GCA386304781GNPTABc.567G>C (p.Lys189Asn)
n.361G>C
c.201G>C (p.Lys67Asn)
c.486G>C (p.Lys162Asn)
c.351G>C (p.Lys117Asn)
c.-784G>C (n.-784G>C)
12g.101786016C>TCA481326163GNPTABc.567G>A (p.Lys189=)
n.361G>A
c.201G>A (p.Lys67=)
c.486G>A (p.Lys162=)
c.351G>A (p.Lys117=)
c.-784G>A (n.-784G>A)
 gnomAD v4
12g.101786017T>ACA386304782GNPTABc.566A>T (p.Lys189Met)
n.360A>T
c.200A>T (p.Lys67Met)
c.485A>T (p.Lys162Met)
c.350A>T (p.Lys117Met)
c.-785A>T (n.-785A>T)
12g.101786017T>CCA242473293GNPTABc.566A>G (p.Lys189Arg)
n.360A>G
c.200A>G (p.Lys67Arg)
c.485A>G (p.Lys162Arg)
c.350A>G (p.Lys117Arg)
c.-785A>G (n.-785A>G)
 dbSNP
12g.101786017T>GCA386304783GNPTABc.566A>C (p.Lys189Thr)
n.360A>C
c.200A>C (p.Lys67Thr)
c.485A>C (p.Lys162Thr)
c.350A>C (p.Lys117Thr)
c.-785A>C (n.-785A>C)
12g.101786017T=CA2058964782GNPTABc.566A= (p.Lys189=)
n.360A=
c.200A= (p.Lys67=)
c.485A= (p.Lys162=)
c.350A= (p.Lys117=)
c.-785A= (n.-785A=)
12g.101786018T>ACA386304784GNPTABc.565A>T (p.Lys189Ter)
n.359A>T
c.199A>T (p.Lys67Ter)
c.484A>T (p.Lys162Ter)
c.349A>T (p.Lys117Ter)
c.-786A>T (n.-786A>T)
12g.101786018T>CCA386304785GNPTABc.565A>G (p.Lys189Glu)
n.359A>G
c.199A>G (p.Lys67Glu)
c.484A>G (p.Lys162Glu)
c.349A>G (p.Lys117Glu)
c.-786A>G (n.-786A>G)
12g.101786018T>GCA386304786GNPTABc.565A>C (p.Lys189Gln)
n.359A>C
c.199A>C (p.Lys67Gln)
c.484A>C (p.Lys162Gln)
c.349A>C (p.Lys117Gln)
c.-786A>C (n.-786A>C)
12g.101786019A=CA2058964783GNPTABc.564T= (p.Thr188=)
n.358T=
c.198T= (p.Thr66=)
c.483T= (p.Thr161=)
c.348T= (p.Thr116=)
c.-787T= (n.-787T=)
12g.101786019A>CCA481326170GNPTABc.564T>G (p.Thr188=)
n.358T>G
c.198T>G (p.Thr66=)
c.483T>G (p.Thr161=)
c.348T>G (p.Thr116=)
c.-787T>G (n.-787T>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101786019A>GCA481326171GNPTABc.564T>C (p.Thr188=)
n.358T>C
c.198T>C (p.Thr66=)
c.483T>C (p.Thr161=)
c.348T>C (p.Thr116=)
c.-787T>C (n.-787T>C)
12g.101786019A>TCA481326172GNPTABc.564T>A (p.Thr188=)
n.358T>A
c.198T>A (p.Thr66=)
c.483T>A (p.Thr161=)
c.348T>A (p.Thr116=)
c.-787T>A (n.-787T>A)
12g.101786020G>ACA386304787GNPTABc.563C>T (p.Thr188Ile)
n.357C>T
c.197C>T (p.Thr66Ile)
c.482C>T (p.Thr161Ile)
c.347C>T (p.Thr116Ile)
c.-788C>T (n.-788C>T)
12g.101786020G>CCA386304788GNPTABc.563C>G (p.Thr188Ser)
n.357C>G
c.197C>G (p.Thr66Ser)
c.482C>G (p.Thr161Ser)
c.347C>G (p.Thr116Ser)
c.-788C>G (n.-788C>G)
 COSMIC COSMIC
12g.101786020G>TCA386304789GNPTABc.563C>A (p.Thr188Asn)
n.357C>A
c.197C>A (p.Thr66Asn)
c.482C>A (p.Thr161Asn)
c.347C>A (p.Thr116Asn)
c.-788C>A (n.-788C>A)
12g.101786021T>ACA386304790GNPTABc.562A>T (p.Thr188Ser)
n.356A>T
c.196A>T (p.Thr66Ser)
c.481A>T (p.Thr161Ser)
c.346A>T (p.Thr116Ser)
c.-789A>T (n.-789A>T)
12g.101786021T>CCA386304791GNPTABc.562A>G (p.Thr188Ala)
n.356A>G
c.196A>G (p.Thr66Ala)
c.481A>G (p.Thr161Ala)
c.346A>G (p.Thr116Ala)
c.-789A>G (n.-789A>G)
 gnomAD v4
12g.101786021T>GCA386304792GNPTABc.562A>C (p.Thr188Pro)
n.356A>C
c.196A>C (p.Thr66Pro)
c.481A>C (p.Thr161Pro)
c.346A>C (p.Thr116Pro)
c.-789A>C (n.-789A>C)
12g.101786022A>CCA386304793GNPTABc.561T>G (p.Ser187Arg)
n.355T>G
c.195T>G (p.Ser65Arg)
c.480T>G (p.Ser160Arg)
c.345T>G (p.Ser115Arg)
c.-790T>G (n.-790T>G)
12g.101786022A>GCA481326175GNPTABc.561T>C (p.Ser187=)
n.355T>C
c.195T>C (p.Ser65=)
c.480T>C (p.Ser160=)
c.345T>C (p.Ser115=)
c.-790T>C (n.-790T>C)
12g.101786022A>TCA386304794GNPTABc.561T>A (p.Ser187Arg)
n.355T>A
c.195T>A (p.Ser65Arg)
c.480T>A (p.Ser160Arg)
c.345T>A (p.Ser115Arg)
c.-790T>A (n.-790T>A)
12g.101786023C>ACA386304795GNPTABc.560G>T (p.Ser187Ile)
n.354G>T
c.194G>T (p.Ser65Ile)
c.479G>T (p.Ser160Ile)
c.344G>T (p.Ser115Ile)
c.-791G>T (n.-791G>T)
12g.101786023C=CA2058964784GNPTABc.560G= (p.Ser187=)
n.354G=
c.194G= (p.Ser65=)
c.479G= (p.Ser160=)
c.344G= (p.Ser115=)
c.-791G= (n.-791G=)
12g.101786023C>GCA242473296GNPTABc.560G>C (p.Ser187Thr)
n.354G>C
c.194G>C (p.Ser65Thr)
c.479G>C (p.Ser160Thr)
c.344G>C (p.Ser115Thr)
c.-791G>C (n.-791G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101786023C>TCA6746859GNPTABc.560G>A (p.Ser187Asn)
n.354G>A
c.194G>A (p.Ser65Asn)
c.479G>A (p.Ser160Asn)
c.344G>A (p.Ser115Asn)
c.-791G>A (n.-791G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.101786024T>ACA386304796GNPTABc.559A>T (p.Ser187Cys)
n.353A>T
c.193A>T (p.Ser65Cys)
c.478A>T (p.Ser160Cys)
c.343A>T (p.Ser115Cys)
c.-792A>T (n.-792A>T)
12g.101786024T>CCA386304797GNPTABc.559A>G (p.Ser187Gly)
n.353A>G
c.193A>G (p.Ser65Gly)
c.478A>G (p.Ser160Gly)
c.343A>G (p.Ser115Gly)
c.-792A>G (n.-792A>G)
 gnomAD v4
12g.101786024T>GCA386304798GNPTABc.559A>C (p.Ser187Arg)
n.353A>C
c.193A>C (p.Ser65Arg)
c.478A>C (p.Ser160Arg)
c.343A>C (p.Ser115Arg)
c.-792A>C (n.-792A>C)
12g.101786025G>ACA481326177GNPTABc.558C>T (p.Asp186=)
n.352C>T
c.192C>T (p.Asp64=)
c.477C>T (p.Asp159=)
c.342C>T (p.Asp114=)
c.-793C>T (n.-793C>T)
 gnomAD v4
12g.101786025G>CCA386304799GNPTABc.558C>G (p.Asp186Glu)
n.352C>G
c.192C>G (p.Asp64Glu)
c.477C>G (p.Asp159Glu)
c.342C>G (p.Asp114Glu)
c.-793C>G (n.-793C>G)
12g.101786025G>TCA386304800GNPTABc.558C>A (p.Asp186Glu)
n.352C>A
c.192C>A (p.Asp64Glu)
c.477C>A (p.Asp159Glu)
c.342C>A (p.Asp114Glu)
c.-793C>A (n.-793C>A)
 gnomAD v4
12g.101786026T>ACA386304801GNPTABc.557A>T (p.Asp186Val)
n.351A>T
c.191A>T (p.Asp64Val)
c.476A>T (p.Asp159Val)
c.341A>T (p.Asp114Val)
c.-794A>T (n.-794A>T)
12g.101786026T>CCA386304802GNPTABc.557A>G (p.Asp186Gly)
n.351A>G
c.191A>G (p.Asp64Gly)
c.476A>G (p.Asp159Gly)
c.341A>G (p.Asp114Gly)
c.-794A>G (n.-794A>G)
 gnomAD v4
12g.101786026T>GCA386304803GNPTABc.557A>C (p.Asp186Ala)
n.351A>C
c.191A>C (p.Asp64Ala)
c.476A>C (p.Asp159Ala)
c.341A>C (p.Asp114Ala)
c.-794A>C (n.-794A>C)
12g.101786026T=CA2058964785GNPTABc.557A= (p.Asp186=)
n.351A=
c.191A= (p.Asp64=)
c.476A= (p.Asp159=)
c.341A= (p.Asp114=)
c.-794A= (n.-794A=)
12g.101786027C>ACA242473297GNPTABc.556G>T (p.Asp186Tyr)
n.350G>T
c.190G>T (p.Asp64Tyr)
c.475G>T (p.Asp159Tyr)
c.340G>T (p.Asp114Tyr)
c.-795G>T (n.-795G>T)
 dbSNP
12g.101786027C=CA2058964786GNPTABc.556G= (p.Asp186=)
n.350G=
c.190G= (p.Asp64=)
c.475G= (p.Asp159=)
c.340G= (p.Asp114=)
c.-795G= (n.-795G=)
12g.101786027C>GCA386304804GNPTABc.556G>C (p.Asp186His)
n.350G>C
c.190G>C (p.Asp64His)
c.475G>C (p.Asp159His)
c.340G>C (p.Asp114His)
c.-795G>C (n.-795G>C)
12g.101786027C>TCA386304805GNPTABc.556G>A (p.Asp186Asn)
n.350G>A
c.190G>A (p.Asp64Asn)
c.475G>A (p.Asp159Asn)
c.340G>A (p.Asp114Asn)
c.-795G>A (n.-795G>A)
12g.101786030_101786035dupCA682739263GNPTABc.551_556dup (p.Phe185_Asp186insValPhe)
n.345_350dup
c.185_190dup (p.Phe63_Asp64insValPhe)
c.470_475dup (p.Phe158_Asp159insValPhe)
c.335_340dup (p.Phe113_Asp114insValPhe)
c.-800_-795dup (n.-800_-795dup)
 dbSNP
12g.101786028A>CCA386304806GNPTABc.555T>G (p.Phe185Leu)
n.349T>G
c.189T>G (p.Phe63Leu)
c.474T>G (p.Phe158Leu)
c.339T>G (p.Phe113Leu)
c.-796T>G (n.-796T>G)
12g.101786028A>GCA481326178GNPTABc.555T>C (p.Phe185=)
n.349T>C
c.189T>C (p.Phe63=)
c.474T>C (p.Phe158=)
c.339T>C (p.Phe113=)
c.-796T>C (n.-796T>C)
 COSMIC COSMIC
12g.101786028A>TCA386304807GNPTABc.555T>A (p.Phe185Leu)
n.349T>A
c.189T>A (p.Phe63Leu)
c.474T>A (p.Phe158Leu)
c.339T>A (p.Phe113Leu)
c.-796T>A (n.-796T>A)
12g.101786029A>CCA386304808GNPTABc.554T>G (p.Phe185Cys)
n.348T>G
c.188T>G (p.Phe63Cys)
c.473T>G (p.Phe158Cys)
c.338T>G (p.Phe113Cys)
c.-797T>G (n.-797T>G)
12g.101786029A>GCA386304810GNPTABc.554T>C (p.Phe185Ser)
n.348T>C
c.188T>C (p.Phe63Ser)
c.473T>C (p.Phe158Ser)
c.338T>C (p.Phe113Ser)
c.-797T>C (n.-797T>C)
12g.101786029A>TCA386304809GNPTABc.554T>A (p.Phe185Tyr)
n.348T>A
c.188T>A (p.Phe63Tyr)
c.473T>A (p.Phe158Tyr)
c.338T>A (p.Phe113Tyr)
c.-797T>A (n.-797T>A)
12g.101786030A=CA2058964788GNPTABc.553T= (p.Phe185=)
n.347T=
c.187T= (p.Phe63=)
c.472T= (p.Phe158=)
c.337T= (p.Phe113=)
c.-798T= (n.-798T=)
12g.101786030A>CCA386304811GNPTABc.553T>G (p.Phe185Val)
n.347T>G
c.187T>G (p.Phe63Val)
c.472T>G (p.Phe158Val)
c.337T>G (p.Phe113Val)
c.-798T>G (n.-798T>G)
12g.101786030A>GCA386304812GNPTABc.553T>C (p.Phe185Leu)
n.347T>C
c.187T>C (p.Phe63Leu)
c.472T>C (p.Phe158Leu)
c.337T>C (p.Phe113Leu)
c.-798T>C (n.-798T>C)
 dbSNP COSMIC COSMIC
12g.101786030A>TCA386304813GNPTABc.553T>A (p.Phe185Ile)
n.347T>A
c.187T>A (p.Phe63Ile)
c.472T>A (p.Phe158Ile)
c.337T>A (p.Phe113Ile)
c.-798T>A (n.-798T>A)
12g.101786030_101786033delinsAAACCA2058964787GNPTABc.550_553delinsGTTT (p.Val184=)
n.344_347delinsGTTT
c.184_187delinsGTTT (p.Val62=)
c.469_472delinsGTTT (p.Val157=)
c.334_337delinsGTTT (p.Val112=)
c.-801_-798delinsGTTT (n.-801_-798delinsGTTT)
12g.101786031A>CCA481326184GNPTABc.552T>G (p.Val184=)
n.346T>G
c.186T>G (p.Val62=)
c.471T>G (p.Val157=)
c.336T>G (p.Val112=)
c.-799T>G (n.-799T>G)
12g.101786031A>GCA481326182GNPTABc.552T>C (p.Val184=)
n.346T>C
c.186T>C (p.Val62=)
c.471T>C (p.Val157=)
c.336T>C (p.Val112=)
c.-799T>C (n.-799T>C)
12g.101786031A>TCA481326183GNPTABc.552T>A (p.Val184=)
n.346T>A
c.186T>A (p.Val62=)
c.471T>A (p.Val157=)
c.336T>A (p.Val112=)
c.-799T>A (n.-799T>A)
12g.101786037_101786039delCA6746860GNPTABc.550_552del (p.Val184del)
n.344_346del
c.184_186del (p.Val62del)
c.469_471del (p.Val157del)
c.334_336del (p.Val112del)
c.-801_-799del (n.-801_-799del)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101786032A>CCA386304814GNPTABc.551T>G (p.Val184Gly)
n.345T>G
c.185T>G (p.Val62Gly)
c.470T>G (p.Val157Gly)
c.335T>G (p.Val112Gly)
c.-800T>G (n.-800T>G)
12g.101786032A>GCA386304815GNPTABc.551T>C (p.Val184Ala)
n.345T>C
c.185T>C (p.Val62Ala)
c.470T>C (p.Val157Ala)
c.335T>C (p.Val112Ala)
c.-800T>C (n.-800T>C)
12g.101786032A>TCA386304816GNPTABc.551T>A (p.Val184Asp)
n.345T>A
c.185T>A (p.Val62Asp)
c.470T>A (p.Val157Asp)
c.335T>A (p.Val112Asp)
c.-800T>A (n.-800T>A)
12g.101786033C>ACA386304817GNPTABc.550G>T (p.Val184Phe)
n.344G>T
c.184G>T (p.Val62Phe)
c.469G>T (p.Val157Phe)
c.334G>T (p.Val112Phe)
c.-801G>T (n.-801G>T)
12g.101786033C>GCA386304818GNPTABc.550G>C (p.Val184Leu)
n.344G>C
c.184G>C (p.Val62Leu)
c.469G>C (p.Val157Leu)
c.334G>C (p.Val112Leu)
c.-801G>C (n.-801G>C)
12g.101786033C>TCA386304819GNPTABc.550G>A (p.Val184Ile)
n.344G>A
c.184G>A (p.Val62Ile)
c.469G>A (p.Val157Ile)
c.334G>A (p.Val112Ile)
c.-801G>A (n.-801G>A)
12g.101786034A>CCA481326185GNPTABc.549T>G (p.Val183=)
n.343T>G
c.183T>G (p.Val61=)
c.468T>G (p.Val156=)
c.333T>G (p.Val111=)
c.-802T>G (n.-802T>G)
12g.101786034A>GCA481326186GNPTABc.549T>C (p.Val183=)
n.343T>C
c.183T>C (p.Val61=)
c.468T>C (p.Val156=)
c.333T>C (p.Val111=)
c.-802T>C (n.-802T>C)
12g.101786034A>TCA481326187GNPTABc.549T>A (p.Val183=)
n.343T>A
c.183T>A (p.Val61=)
c.468T>A (p.Val156=)
c.333T>A (p.Val111=)
c.-802T>A (n.-802T>A)
12g.101786035A>CCA386304822GNPTABc.548T>G (p.Val183Gly)
n.342T>G
c.182T>G (p.Val61Gly)
c.467T>G (p.Val156Gly)
c.332T>G (p.Val111Gly)
c.-803T>G (n.-803T>G)
12g.101786035A>GCA386304821GNPTABc.548T>C (p.Val183Ala)
n.342T>C
c.182T>C (p.Val61Ala)
c.467T>C (p.Val156Ala)
c.332T>C (p.Val111Ala)
c.-803T>C (n.-803T>C)
12g.101786035A>TCA386304820GNPTABc.548T>A (p.Val183Asp)
n.342T>A
c.182T>A (p.Val61Asp)
c.467T>A (p.Val156Asp)
c.332T>A (p.Val111Asp)
c.-803T>A (n.-803T>A)
12g.101786036C>ACA386304825GNPTABc.547G>T (p.Val183Phe)
n.341G>T
c.181G>T (p.Val61Phe)
c.466G>T (p.Val156Phe)
c.331G>T (p.Val111Phe)
c.-804G>T (n.-804G>T)
12g.101786036C=CA2058964789GNPTABc.547G= (p.Val183=)
n.341G=
c.181G= (p.Val61=)
c.466G= (p.Val156=)
c.331G= (p.Val111=)
c.-804G= (n.-804G=)
12g.101786036C>GCA386304823GNPTABc.547G>C (p.Val183Leu)
n.341G>C
c.181G>C (p.Val61Leu)
c.466G>C (p.Val156Leu)
c.331G>C (p.Val111Leu)
c.-804G>C (n.-804G>C)
12g.101786036C>TCA386304824GNPTABc.547G>A (p.Val183Ile)
n.341G>A
c.181G>A (p.Val61Ile)
c.466G>A (p.Val156Ile)
c.331G>A (p.Val111Ile)
c.-804G>A (n.-804G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101786037A>CCA481326189GNPTABc.546T>G (p.Val182=)
n.340T>G
c.180T>G (p.Val60=)
c.465T>G (p.Val155=)
c.330T>G (p.Val110=)
c.-805T>G (n.-805T>G)
12g.101786037A>GCA481326190GNPTABc.546T>C (p.Val182=)
n.340T>C
c.180T>C (p.Val60=)
c.465T>C (p.Val155=)
c.330T>C (p.Val110=)
c.-805T>C (n.-805T>C)
12g.101786037A>TCA481326191GNPTABc.546T>A (p.Val182=)
n.340T>A
c.180T>A (p.Val60=)
c.465T>A (p.Val155=)
c.330T>A (p.Val110=)
c.-805T>A (n.-805T>A)
12g.101786038A=CA2058964790GNPTABc.545T= (p.Val182=)
n.339T=
c.179T= (p.Val60=)
c.464T= (p.Val155=)
c.329T= (p.Val110=)
c.-806T= (n.-806T=)
12g.101786038A>CCA386304826GNPTABc.545T>G (p.Val182Gly)
n.339T>G
c.179T>G (p.Val60Gly)
c.464T>G (p.Val155Gly)
c.329T>G (p.Val110Gly)
c.-806T>G (n.-806T>G)
12g.101786038A>GCA386304827GNPTABc.545T>C (p.Val182Ala)
n.339T>C
c.179T>C (p.Val60Ala)
c.464T>C (p.Val155Ala)
c.329T>C (p.Val110Ala)
c.-806T>C (n.-806T>C)
12g.101786038A>TCA356554GNPTABc.545T>A (p.Val182Asp)
n.339T>A
c.179T>A (p.Val60Asp)
c.464T>A (p.Val155Asp)
c.329T>A (p.Val110Asp)
c.-806T>A (n.-806T>A)
 dbSNP gnomAD v4
12g.101786039C>ACA386304830GNPTABc.544G>T (p.Val182Phe)
n.338G>T
c.178G>T (p.Val60Phe)
c.463G>T (p.Val155Phe)
c.328G>T (p.Val110Phe)
c.-807G>T (n.-807G>T)
12g.101786039C>GCA386304829GNPTABc.544G>C (p.Val182Leu)
n.338G>C
c.178G>C (p.Val60Leu)
c.463G>C (p.Val155Leu)
c.328G>C (p.Val110Leu)
c.-807G>C (n.-807G>C)
12g.101786039C>TCA386304828GNPTABc.544G>A (p.Val182Ile)
n.338G>A
c.178G>A (p.Val60Ile)
c.463G>A (p.Val155Ile)
c.328G>A (p.Val110Ile)
c.-807G>A (n.-807G>A)
 gnomAD v4
12g.101786040T>ACA481326194GNPTABc.543A>T (p.Ser181=)
n.337A>T
c.177A>T (p.Ser59=)
c.462A>T (p.Ser154=)
c.327A>T (p.Ser109=)
c.-808A>T (n.-808A>T)
 ClinVar dbSNP
12g.101786040T>CCA481326195GNPTABc.543A>G (p.Ser181=)
n.337A>G
c.177A>G (p.Ser59=)
c.462A>G (p.Ser154=)
c.327A>G (p.Ser109=)
c.-808A>G (n.-808A>G)
 gnomAD v4
12g.101786040T>GCA481326196GNPTABc.543A>C (p.Ser181=)
n.337A>C
c.177A>C (p.Ser59=)
c.462A>C (p.Ser154=)
c.327A>C (p.Ser109=)
c.-808A>C (n.-808A>C)
 ClinVar
12g.101786041G>ACA6746861GNPTABc.542C>T (p.Ser181Leu)
n.336C>T
c.176C>T (p.Ser59Leu)
c.461C>T (p.Ser154Leu)
c.326C>T (p.Ser109Leu)
c.-809C>T (n.-809C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101786041G>CCA386304831GNPTABc.542C>G (p.Ser181Ter)
n.336C>G
c.176C>G (p.Ser59Ter)
c.461C>G (p.Ser154Ter)
c.326C>G (p.Ser109Ter)
c.-809C>G (n.-809C>G)
 ClinVar dbSNP
12g.101786041G=CA2058964791GNPTABc.542C= (p.Ser181=)
n.336C=
c.176C= (p.Ser59=)
c.461C= (p.Ser154=)
c.326C= (p.Ser109=)
c.-809C= (n.-809C=)
12g.101786041G>TCA386304832GNPTABc.542C>A (p.Ser181Ter)
n.336C>A
c.176C>A (p.Ser59Ter)
c.461C>A (p.Ser154Ter)
c.326C>A (p.Ser109Ter)
c.-809C>A (n.-809C>A)
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=)

Number of alleles fetched