Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.124404649_124405541delCA2499220186OATc.546_649-726del
n.347_450-726del
n.392_495-726del
c.132_235-726del
c.225_328-726del
c.-55_49-726del
 ClinVar dbSNP
10g.124405445G>ACA5733481OATc.639C>T (p.Pro213=)
n.440C>T
n.485C>T
c.225C>T (p.Pro75=)
c.318C>T (p.Pro106=)
c.39C>T (p.Pro13=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.124405445G>CCA471762953OATc.639C>G (p.Pro213=)
n.440C>G
n.485C>G
c.225C>G (p.Pro75=)
c.318C>G (p.Pro106=)
c.39C>G (p.Pro13=)
 dbSNP
10g.124405445G=CA1942339061OATc.639C= (p.Pro213=)
n.440C=
n.485C=
c.225C= (p.Pro75=)
c.318C= (p.Pro106=)
c.39C= (p.Pro13=)
10g.124405445G>TCA471762954OATc.639C>A (p.Pro213=)
n.440C>A
n.485C>A
c.225C>A (p.Pro75=)
c.318C>A (p.Pro106=)
c.39C>A (p.Pro13=)
10g.124405446G>ACA5733482OATc.638C>T (p.Pro213Leu)
n.439C>T
n.484C>T
c.224C>T (p.Pro75Leu)
c.317C>T (p.Pro106Leu)
c.38C>T (p.Pro13Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.124405446G>CCA378636118OATc.638C>G (p.Pro213Arg)
n.439C>G
n.484C>G
c.224C>G (p.Pro75Arg)
c.317C>G (p.Pro106Arg)
c.38C>G (p.Pro13Arg)
10g.124405446G=CA1942339062OATc.638C= (p.Pro213=)
n.439C=
n.484C=
c.224C= (p.Pro75=)
c.317C= (p.Pro106=)
c.38C= (p.Pro13=)
10g.124405446G>TCA378636120OATc.638C>A (p.Pro213His)
n.439C>A
n.484C>A
c.224C>A (p.Pro75His)
c.317C>A (p.Pro106His)
c.38C>A (p.Pro13His)
10g.124405447G>ACA378636122OATc.637C>T (p.Pro213Ser)
n.438C>T
n.483C>T
c.223C>T (p.Pro75Ser)
c.316C>T (p.Pro106Ser)
c.37C>T (p.Pro13Ser)
10g.124405447G>CCA378636123OATc.637C>G (p.Pro213Ala)
n.438C>G
n.483C>G
c.223C>G (p.Pro75Ala)
c.316C>G (p.Pro106Ala)
c.37C>G (p.Pro13Ala)
10g.124405447G>TCA378636126OATc.637C>A (p.Pro213Thr)
n.438C>A
n.483C>A
c.223C>A (p.Pro75Thr)
c.316C>A (p.Pro106Thr)
c.37C>A (p.Pro13Thr)
 gnomAD v4
10g.124405448C>ACA471762955OATc.636G>T (p.Leu212=)
n.437G>T
n.482G>T
c.222G>T (p.Leu74=)
c.315G>T (p.Leu105=)
c.36G>T (p.Leu12=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.124405448C=CA1942339063OATc.636G= (p.Leu212=)
n.437G=
n.482G=
c.222G= (p.Leu74=)
c.315G= (p.Leu105=)
c.36G= (p.Leu12=)
10g.124405448C>GCA471762957OATc.636G>C (p.Leu212=)
n.437G>C
n.482G>C
c.222G>C (p.Leu74=)
c.315G>C (p.Leu105=)
c.36G>C (p.Leu12=)
10g.124405448C>TCA471762956OATc.636G>A (p.Leu212=)
n.437G>A
n.482G>A
c.222G>A (p.Leu74=)
c.315G>A (p.Leu105=)
c.36G>A (p.Leu12=)
 ClinVar
10g.124405449A>CCA378636129OATc.635T>G (p.Leu212Arg)
n.436T>G
n.481T>G
c.221T>G (p.Leu74Arg)
c.314T>G (p.Leu105Arg)
c.35T>G (p.Leu12Arg)
10g.124405449A>GCA378636135OATc.635T>C (p.Leu212Pro)
n.436T>C
n.481T>C
c.221T>C (p.Leu74Pro)
c.314T>C (p.Leu105Pro)
c.35T>C (p.Leu12Pro)
10g.124405449A>TCA378636131OATc.635T>A (p.Leu212Gln)
n.436T>A
n.481T>A
c.221T>A (p.Leu74Gln)
c.314T>A (p.Leu105Gln)
c.35T>A (p.Leu12Gln)
10g.124405450G>ACA471762959OATc.634C>T (p.Leu212=)
n.435C>T
n.480C>T
c.220C>T (p.Leu74=)
c.313C>T (p.Leu105=)
c.34C>T (p.Leu12=)
 ClinVar dbSNP gnomAD v4 COSMIC
10g.124405450G>CCA378636138OATc.634C>G (p.Leu212Val)
n.435C>G
n.480C>G
c.220C>G (p.Leu74Val)
c.313C>G (p.Leu105Val)
c.34C>G (p.Leu12Val)
10g.124405450G>TCA378636140OATc.634C>A (p.Leu212Met)
n.435C>A
n.480C>A
c.220C>A (p.Leu74Met)
c.313C>A (p.Leu105Met)
c.34C>A (p.Leu12Met)
10g.124405451A=CA1942339064OATc.633T= (p.Asp211=)
n.434T=
n.479T=
c.219T= (p.Asp73=)
c.312T= (p.Asp104=)
c.33T= (p.Asp11=)
10g.124405451A>CCA378636143OATc.633T>G (p.Asp211Glu)
n.434T>G
n.479T>G
c.219T>G (p.Asp73Glu)
c.312T>G (p.Asp104Glu)
c.33T>G (p.Asp11Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.124405451A>GCA215250467OATc.633T>C (p.Asp211=)
n.434T>C
n.479T>C
c.219T>C (p.Asp73=)
c.312T>C (p.Asp104=)
c.33T>C (p.Asp11=)
 ClinVar dbSNP
10g.124405451A>TCA378636145OATc.633T>A (p.Asp211Glu)
n.434T>A
n.479T>A
c.219T>A (p.Asp73Glu)
c.312T>A (p.Asp104Glu)
c.33T>A (p.Asp11Glu)
10g.124405452T>ACA378636146OATc.632A>T (p.Asp211Val)
n.433A>T
n.478A>T
c.218A>T (p.Asp73Val)
c.311A>T (p.Asp104Val)
c.32A>T (p.Asp11Val)
10g.124405452T>CCA378636147OATc.632A>G (p.Asp211Gly)
n.433A>G
n.478A>G
c.218A>G (p.Asp73Gly)
c.311A>G (p.Asp104Gly)
c.32A>G (p.Asp11Gly)
10g.124405452T>GCA378636148OATc.632A>C (p.Asp211Ala)
n.433A>C
n.478A>C
c.218A>C (p.Asp73Ala)
c.311A>C (p.Asp104Ala)
c.32A>C (p.Asp11Ala)
10g.124405453C>ACA378636150OATc.631G>T (p.Asp211Tyr)
n.432G>T
n.477G>T
c.217G>T (p.Asp73Tyr)
c.310G>T (p.Asp104Tyr)
c.31G>T (p.Asp11Tyr)
 gnomAD v4
10g.124405453C>GCA378636151OATc.631G>C (p.Asp211His)
n.432G>C
n.477G>C
c.217G>C (p.Asp73His)
c.310G>C (p.Asp104His)
c.31G>C (p.Asp11His)
10g.124405453C>TCA378636152OATc.631G>A (p.Asp211Asn)
n.432G>A
n.477G>A
c.217G>A (p.Asp73Asn)
c.310G>A (p.Asp104Asn)
c.31G>A (p.Asp11Asn)
10g.124405453_124405454insTCA2695201051OATc.630_631insA (p.Asp211ArgfsTer25)
n.431_432insA
n.476_477insA
c.216_217insA (p.Asp73ArgfsTer25)
c.309_310insA (p.Asp104ArgfsTer25)
c.30_31insA (p.Asp11ArgfsTer25)
 ClinVar
10g.124405454A=CA1942339065OATc.630T= (p.Asn210=)
n.431T=
n.476T=
c.216T= (p.Asn72=)
c.309T= (p.Asn103=)
c.30T= (p.Asn10=)
10g.124405454A>CCA5733484OATc.630T>G (p.Asn210Lys)
n.431T>G
n.476T>G
c.216T>G (p.Asn72Lys)
c.309T>G (p.Asn103Lys)
c.30T>G (p.Asn10Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.124405454A>GCA471762960OATc.630T>C (p.Asn210=)
n.431T>C
n.476T>C
c.216T>C (p.Asn72=)
c.309T>C (p.Asn103=)
c.30T>C (p.Asn10=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.124405454A>TCA5733483OATc.630T>A (p.Asn210Lys)
n.431T>A
n.476T>A
c.216T>A (p.Asn72Lys)
c.309T>A (p.Asn103Lys)
c.30T>A (p.Asn10Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.124405455T>ACA378636167OATc.629A>T (p.Asn210Ile)
n.430A>T
n.475A>T
c.215A>T (p.Asn72Ile)
c.308A>T (p.Asn103Ile)
c.29A>T (p.Asn10Ile)
10g.124405455T>CCA378636156OATc.629A>G (p.Asn210Ser)
n.430A>G
n.475A>G
c.215A>G (p.Asn72Ser)
c.308A>G (p.Asn103Ser)
c.29A>G (p.Asn10Ser)
10g.124405455T>GCA378636165OATc.629A>C (p.Asn210Thr)
n.430A>C
n.475A>C
c.215A>C (p.Asn72Thr)
c.308A>C (p.Asn103Thr)
c.29A>C (p.Asn10Thr)
10g.124405456T>ACA378636173OATc.628A>T (p.Asn210Tyr)
n.429A>T
n.474A>T
c.214A>T (p.Asn72Tyr)
c.307A>T (p.Asn103Tyr)
c.28A>T (p.Asn10Tyr)
10g.124405456T>CCA378636178OATc.628A>G (p.Asn210Asp)
n.429A>G
n.474A>G
c.214A>G (p.Asn72Asp)
c.307A>G (p.Asn103Asp)
c.28A>G (p.Asn10Asp)
10g.124405456T>GCA378636186OATc.628A>C (p.Asn210His)
n.429A>C
n.474A>C
c.214A>C (p.Asn72His)
c.307A>C (p.Asn103His)
c.28A>C (p.Asn10His)
 gnomAD v4
10g.124405457A=CA1942339066OATc.627T= (p.Tyr209=)
n.428T=
n.473T=
c.213T= (p.Tyr71=)
c.306T= (p.Tyr102=)
c.27T= (p.Tyr9=)
10g.124405457A>CCA378636187OATc.627T>G (p.Tyr209Ter)
n.428T>G
n.473T>G
c.213T>G (p.Tyr71Ter)
c.306T>G (p.Tyr102Ter)
c.27T>G (p.Tyr9Ter)
10g.124405457A>GCA471762961OATc.627T>C (p.Tyr209=)
n.428T>C
n.473T>C
c.213T>C (p.Tyr71=)
c.306T>C (p.Tyr102=)
c.27T>C (p.Tyr9=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.124405457A>TCA113994OATc.627T>A (p.Tyr209Ter)
n.428T>A
n.473T>A
c.213T>A (p.Tyr71Ter)
c.306T>A (p.Tyr102Ter)
c.27T>A (p.Tyr9Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.124405458T>ACA378636191OATc.626A>T (p.Tyr209Phe)
n.427A>T
n.472A>T
c.212A>T (p.Tyr71Phe)
c.305A>T (p.Tyr102Phe)
c.26A>T (p.Tyr9Phe)
10g.124405458T>CCA378636193OATc.626A>G (p.Tyr209Cys)
n.427A>G
n.472A>G
c.212A>G (p.Tyr71Cys)
c.305A>G (p.Tyr102Cys)
c.26A>G (p.Tyr9Cys)
 ClinVar dbSNP gnomAD v4 COSMIC
10g.124405458T>GCA378636198OATc.626A>C (p.Tyr209Ser)
n.427A>C
n.472A>C
c.212A>C (p.Tyr71Ser)
c.305A>C (p.Tyr102Ser)
c.26A>C (p.Tyr9Ser)
10g.124405459A>CCA378636202OATc.625T>G (p.Tyr209Asp)
n.426T>G
n.471T>G
c.211T>G (p.Tyr71Asp)
c.304T>G (p.Tyr102Asp)
c.25T>G (p.Tyr9Asp)
10g.124405459A>GCA378636204OATc.625T>C (p.Tyr209His)
n.426T>C
n.471T>C
c.211T>C (p.Tyr71His)
c.304T>C (p.Tyr102His)
c.25T>C (p.Tyr9His)
10g.124405459A>TCA378636207OATc.625T>A (p.Tyr209Asn)
n.426T>A
n.471T>A
c.211T>A (p.Tyr71Asn)
c.304T>A (p.Tyr102Asn)
c.25T>A (p.Tyr9Asn)
10g.124405460G>ACA471762962OATc.624C>T (p.Pro208=)
n.425C>T
n.470C>T
c.210C>T (p.Pro70=)
c.303C>T (p.Pro101=)
c.24C>T (p.Pro8=)
 ClinVar dbSNP gnomAD v4
10g.124405460G>CCA471762963OATc.624C>G (p.Pro208=)
n.425C>G
n.470C>G
c.210C>G (p.Pro70=)
c.303C>G (p.Pro101=)
c.24C>G (p.Pro8=)
10g.124405460G>TCA471762964OATc.624C>A (p.Pro208=)
n.425C>A
n.470C>A
c.210C>A (p.Pro70=)
c.303C>A (p.Pro101=)
c.24C>A (p.Pro8=)
10g.124405461G>ACA378636213OATc.623C>T (p.Pro208Leu)
n.424C>T
n.469C>T
c.209C>T (p.Pro70Leu)
c.302C>T (p.Pro101Leu)
c.23C>T (p.Pro8Leu)
 gnomAD v4
10g.124405461G>CCA5733485OATc.623C>G (p.Pro208Arg)
n.424C>G
n.469C>G
c.209C>G (p.Pro70Arg)
c.302C>G (p.Pro101Arg)
c.23C>G (p.Pro8Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.124405461G=CA1942339067OATc.623C= (p.Pro208=)
n.424C=
n.469C=
c.209C= (p.Pro70=)
c.302C= (p.Pro101=)
c.23C= (p.Pro8=)
10g.124405461G>TCA378636210OATc.623C>A (p.Pro208His)
n.424C>A
n.469C>A
c.209C>A (p.Pro70His)
c.302C>A (p.Pro101His)
c.23C>A (p.Pro8His)
10g.124405462G>ACA378636219OATc.622C>T (p.Pro208Ser)
n.423C>T
n.468C>T
c.208C>T (p.Pro70Ser)
c.301C>T (p.Pro101Ser)
c.22C>T (p.Pro8Ser)
 dbSNP gnomAD v4
10g.124405462G>CCA378636222OATc.622C>G (p.Pro208Ala)
n.423C>G
n.468C>G
c.208C>G (p.Pro70Ala)
c.301C>G (p.Pro101Ala)
c.22C>G (p.Pro8Ala)
10g.124405462G=CA1942339068OATc.622C= (p.Pro208=)
n.423C=
n.468C=
c.208C= (p.Pro70=)
c.301C= (p.Pro101=)
c.22C= (p.Pro8=)
10g.124405462G>TCA378636220OATc.622C>A (p.Pro208Thr)
n.423C>A
n.468C>A
c.208C>A (p.Pro70Thr)
c.301C>A (p.Pro101Thr)
c.22C>A (p.Pro8Thr)
10g.124405463A>CCA378636223OATc.621T>G (p.Ile207Met)
n.422T>G
n.467T>G
c.207T>G (p.Ile69Met)
c.300T>G (p.Ile100Met)
c.21T>G (p.Ile7Met)
10g.124405463A>GCA471762966OATc.621T>C (p.Ile207=)
n.422T>C
n.467T>C
c.207T>C (p.Ile69=)
c.300T>C (p.Ile100=)
c.21T>C (p.Ile7=)
10g.124405463A>TCA471762965OATc.621T>A (p.Ile207=)
n.422T>A
n.467T>A
c.207T>A (p.Ile69=)
c.300T>A (p.Ile100=)
c.21T>A (p.Ile7=)
10g.124405464A>CCA378636226OATc.620T>G (p.Ile207Ser)
n.421T>G
n.466T>G
c.206T>G (p.Ile69Ser)
c.299T>G (p.Ile100Ser)
c.20T>G (p.Ile7Ser)
10g.124405464A>GCA378636227OATc.620T>C (p.Ile207Thr)
n.421T>C
n.466T>C
c.206T>C (p.Ile69Thr)
c.299T>C (p.Ile100Thr)
c.20T>C (p.Ile7Thr)
 gnomAD v4
10g.124405464A>TCA378636228OATc.620T>A (p.Ile207Asn)
n.421T>A
n.466T>A
c.206T>A (p.Ile69Asn)
c.299T>A (p.Ile100Asn)
c.20T>A (p.Ile7Asn)
10g.124405465T>ACA378636229OATc.619A>T (p.Ile207Phe)
n.420A>T
n.465A>T
c.205A>T (p.Ile69Phe)
c.298A>T (p.Ile100Phe)
c.19A>T (p.Ile7Phe)
 ClinVar
10g.124405465T>CCA378636230OATc.619A>G (p.Ile207Val)
n.420A>G
n.465A>G
c.205A>G (p.Ile69Val)
c.298A>G (p.Ile100Val)
c.19A>G (p.Ile7Val)
10g.124405465T>GCA378636232OATc.619A>C (p.Ile207Leu)
n.420A>C
n.465A>C
c.205A>C (p.Ile69Leu)
c.298A>C (p.Ile100Leu)
c.19A>C (p.Ile7Leu)
10g.124405466G>ACA471762967OATc.618C>T (p.Ile206=)
n.419C>T
n.464C>T
c.204C>T (p.Ile68=)
c.297C>T (p.Ile99=)
c.18C>T (p.Ile6=)
10g.124405466G>CCA378636233OATc.618C>G (p.Ile206Met)
n.419C>G
n.464C>G
c.204C>G (p.Ile68Met)
c.297C>G (p.Ile99Met)
c.18C>G (p.Ile6Met)
10g.124405466G>TCA471762968OATc.618C>A (p.Ile206=)
n.419C>A
n.464C>A
c.204C>A (p.Ile68=)
c.297C>A (p.Ile99=)
c.18C>A (p.Ile6=)
10g.124405467A>CCA378636236OATc.617T>G (p.Ile206Ser)
n.418T>G
n.463T>G
c.203T>G (p.Ile68Ser)
c.296T>G (p.Ile99Ser)
c.17T>G (p.Ile6Ser)
10g.124405467A>GCA378636238OATc.617T>C (p.Ile206Thr)
n.418T>C
n.463T>C
c.203T>C (p.Ile68Thr)
c.296T>C (p.Ile99Thr)
c.17T>C (p.Ile6Thr)
10g.124405467A>TCA378636240OATc.617T>A (p.Ile206Asn)
n.418T>A
n.463T>A
c.203T>A (p.Ile68Asn)
c.296T>A (p.Ile99Asn)
c.17T>A (p.Ile6Asn)
10g.124405468T>ACA378636246OATc.616A>T (p.Ile206Phe)
n.417A>T
n.462A>T
c.202A>T (p.Ile68Phe)
c.295A>T (p.Ile99Phe)
c.16A>T (p.Ile6Phe)
10g.124405468T>CCA378636243OATc.616A>G (p.Ile206Val)
n.417A>G
n.462A>G
c.202A>G (p.Ile68Val)
c.295A>G (p.Ile99Val)
c.16A>G (p.Ile6Val)
 gnomAD v4
10g.124405468T>GCA378636242OATc.616A>C (p.Ile206Leu)
n.417A>C
n.462A>C
c.202A>C (p.Ile68Leu)
c.295A>C (p.Ile99Leu)
c.16A>C (p.Ile6Leu)
10g.124405469G>ACA215250481OATc.615C>T (p.Asp205=)
n.416C>T
n.461C>T
c.201C>T (p.Asp67=)
c.294C>T (p.Asp98=)
c.15C>T (p.Asp5=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.124405469G>CCA378636249OATc.615C>G (p.Asp205Glu)
n.416C>G
n.461C>G
c.201C>G (p.Asp67Glu)
c.294C>G (p.Asp98Glu)
c.15C>G (p.Asp5Glu)
10g.124405469G=CA1942339069OATc.615C= (p.Asp205=)
n.416C=
n.461C=
c.201C= (p.Asp67=)
c.294C= (p.Asp98=)
c.15C= (p.Asp5=)
10g.124405469G>TCA378636251OATc.615C>A (p.Asp205Glu)
n.416C>A
n.461C>A
c.201C>A (p.Asp67Glu)
c.294C>A (p.Asp98Glu)
c.15C>A (p.Asp5Glu)
10g.124405470T>ACA378636253OATc.614A>T (p.Asp205Val)
n.415A>T
n.460A>T
c.200A>T (p.Asp67Val)
c.293A>T (p.Asp98Val)
c.14A>T (p.Asp5Val)
10g.124405470T>CCA5733486OATc.614A>G (p.Asp205Gly)
n.415A>G
n.460A>G
c.200A>G (p.Asp67Gly)
c.293A>G (p.Asp98Gly)
c.14A>G (p.Asp5Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.124405470T>GCA5733487OATc.614A>C (p.Asp205Ala)
n.415A>C
n.460A>C
c.200A>C (p.Asp67Ala)
c.293A>C (p.Asp98Ala)
c.14A>C (p.Asp5Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.124405470T=CA1942339070OATc.614A= (p.Asp205=)
n.415A=
n.460A=
c.200A= (p.Asp67=)
c.293A= (p.Asp98=)
c.14A= (p.Asp5=)
10g.124405470_124405471delinsGTCA2580082449OATc.613_614delinsAC (p.Asp205Thr)
n.414_415delinsAC
n.459_460delinsAC
c.199_200delinsAC (p.Asp67Thr)
c.292_293delinsAC (p.Asp98Thr)
c.13_14delinsAC (p.Asp5Thr)
 ClinVar
10g.124405471C>ACA378636257OATc.613G>T (p.Asp205Tyr)
n.414G>T
n.459G>T
c.199G>T (p.Asp67Tyr)
c.292G>T (p.Asp98Tyr)
c.13G>T (p.Asp5Tyr)
10g.124405471C=CA1942339071OATc.613G= (p.Asp205=)
n.414G=
n.459G=
c.199G= (p.Asp67=)
c.292G= (p.Asp98=)
c.13G= (p.Asp5=)
10g.124405471C>GCA378636260OATc.613G>C (p.Asp205His)
n.414G>C
n.459G>C
c.199G>C (p.Asp67His)
c.292G>C (p.Asp98His)
c.13G>C (p.Asp5His)
 gnomAD v4
10g.124405471C>TCA5733488OATc.613G>A (p.Asp205Asn)
n.414G>A
n.459G>A
c.199G>A (p.Asp67Asn)
c.292G>A (p.Asp98Asn)
c.13G>A (p.Asp5Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.124405472G>ACA5733489OATc.612C>T (p.Phe204=)
n.413C>T
n.458C>T
c.198C>T (p.Phe66=)
c.291C>T (p.Phe97=)
c.12C>T (p.Phe4=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.124405472G>CCA378636265OATc.612C>G (p.Phe204Leu)
n.413C>G
n.458C>G
c.198C>G (p.Phe66Leu)
c.291C>G (p.Phe97Leu)
c.12C>G (p.Phe4Leu)
10g.124405472G=CA1942339072OATc.612C= (p.Phe204=)
n.413C=
n.458C=
c.198C= (p.Phe66=)
c.291C= (p.Phe97=)
c.12C= (p.Phe4=)
10g.124405472G>TCA378636273OATc.612C>A (p.Phe204Leu)
n.413C>A
n.458C>A
c.198C>A (p.Phe66Leu)
c.291C>A (p.Phe97Leu)
c.12C>A (p.Phe4Leu)
10g.124405473A>CCA378636285OATc.611T>G (p.Phe204Cys)
n.412T>G
n.457T>G
c.197T>G (p.Phe66Cys)
c.290T>G (p.Phe97Cys)
c.11T>G (p.Phe4Cys)
10g.124405473A>GCA378636279OATc.611T>C (p.Phe204Ser)
n.412T>C
n.457T>C
c.197T>C (p.Phe66Ser)
c.290T>C (p.Phe97Ser)
c.11T>C (p.Phe4Ser)
10g.124405473A>TCA378636277OATc.611T>A (p.Phe204Tyr)
n.412T>A
n.457T>A
c.197T>A (p.Phe66Tyr)
c.290T>A (p.Phe97Tyr)
c.11T>A (p.Phe4Tyr)
10g.124405474A>CCA378636289OATc.610T>G (p.Phe204Val)
n.411T>G
n.456T>G
c.196T>G (p.Phe66Val)
c.289T>G (p.Phe97Val)
c.10T>G (p.Phe4Val)
10g.124405474A>GCA378636286OATc.610T>C (p.Phe204Leu)
n.411T>C
n.456T>C
c.196T>C (p.Phe66Leu)
c.289T>C (p.Phe97Leu)
c.10T>C (p.Phe4Leu)
10g.124405474A>TCA378636288OATc.610T>A (p.Phe204Ile)
n.411T>A
n.456T>A
c.196T>A (p.Phe66Ile)
c.289T>A (p.Phe97Ile)
c.10T>A (p.Phe4Ile)
10g.124405475T>ACA471762969OATc.609A>T (p.Gly203=)
n.410A>T
n.455A>T
c.195A>T (p.Gly65=)
c.288A>T (p.Gly96=)
c.9A>T (p.Gly3=)
10g.124405475T>CCA471762970OATc.609A>G (p.Gly203=)
n.410A>G
n.455A>G
c.195A>G (p.Gly65=)
c.288A>G (p.Gly96=)
c.9A>G (p.Gly3=)
10g.124405475T>GCA471762971OATc.609A>C (p.Gly203=)
n.410A>C
n.455A>C
c.195A>C (p.Gly65=)
c.288A>C (p.Gly96=)
c.9A>C (p.Gly3=)
10g.124405476C>ACA378636290OATc.608G>T (p.Gly203Val)
n.409G>T
n.454G>T
c.194G>T (p.Gly65Val)
c.287G>T (p.Gly96Val)
c.8G>T (p.Gly3Val)
10g.124405476C=CA1942339073OATc.608G= (p.Gly203=)
n.409G=
n.454G=
c.194G= (p.Gly65=)
c.287G= (p.Gly96=)
c.8G= (p.Gly3=)
10g.124405476C>GCA378636291OATc.608G>C (p.Gly203Ala)
n.409G>C
n.454G>C
c.194G>C (p.Gly65Ala)
c.287G>C (p.Gly96Ala)
c.8G>C (p.Gly3Ala)
 dbSNP gnomAD v4
10g.124405476C>TCA378636293OATc.608G>A (p.Gly203Glu)
n.409G>A
n.454G>A
c.194G>A (p.Gly65Glu)
c.287G>A (p.Gly96Glu)
c.8G>A (p.Gly3Glu)
 dbSNP
10g.124405477C>ACA378636296OATc.607G>T (p.Gly203Ter)
n.408G>T
n.453G>T
c.193G>T (p.Gly65Ter)
c.286G>T (p.Gly96Ter)
c.7G>T (p.Gly3Ter)
 COSMIC
10g.124405477C>GCA378636299OATc.607G>C (p.Gly203Arg)
n.408G>C
n.453G>C
c.193G>C (p.Gly65Arg)
c.286G>C (p.Gly96Arg)
c.7G>C (p.Gly3Arg)
10g.124405477C>TCA378636302OATc.607G>A (p.Gly203Arg)
n.408G>A
n.453G>A
c.193G>A (p.Gly65Arg)
c.286G>A (p.Gly96Arg)
c.7G>A (p.Gly3Arg)
10g.124405478C>ACA471762972OATc.606G>T (p.Pro202=)
n.407G>T
n.452G>T
c.192G>T (p.Pro64=)
c.285G>T (p.Pro95=)
c.6G>T (p.Pro2=)
 dbSNP
10g.124405478C=CA1942339074OATc.606G= (p.Pro202=)
n.407G=
n.452G=
c.192G= (p.Pro64=)
c.285G= (p.Pro95=)
c.6G= (p.Pro2=)
10g.124405478C>GCA471762973OATc.606G>C (p.Pro202=)
n.407G>C
n.452G>C
c.192G>C (p.Pro64=)
c.285G>C (p.Pro95=)
c.6G>C (p.Pro2=)
10g.124405478C>TCA5733490OATc.606G>A (p.Pro202=)
n.407G>A
n.452G>A
c.192G>A (p.Pro64=)
c.285G>A (p.Pro95=)
c.6G>A (p.Pro2=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.124405479G>ACA5733491OATc.605C>T (p.Pro202Leu)
n.406C>T
n.451C>T
c.191C>T (p.Pro64Leu)
c.284C>T (p.Pro95Leu)
c.5C>T (p.Pro2Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.124405479G>CCA378636306OATc.605C>G (p.Pro202Arg)
n.406C>G
n.451C>G
c.191C>G (p.Pro64Arg)
c.284C>G (p.Pro95Arg)
c.5C>G (p.Pro2Arg)
10g.124405479G=CA1942339075OATc.605C= (p.Pro202=)
n.406C=
n.451C=
c.191C= (p.Pro64=)
c.284C= (p.Pro95=)
c.5C= (p.Pro2=)
10g.124405479G>TCA378636309OATc.605C>A (p.Pro202Gln)
n.406C>A
n.451C>A
c.191C>A (p.Pro64Gln)
c.284C>A (p.Pro95Gln)
c.5C>A (p.Pro2Gln)
10g.124405480G>ACA215250529OATc.604C>T (p.Pro202Ser)
n.405C>T
n.450C>T
c.190C>T (p.Pro64Ser)
c.283C>T (p.Pro95Ser)
c.4C>T (p.Pro2Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.124405480G>CCA378636315OATc.604C>G (p.Pro202Ala)
n.405C>G
n.450C>G
c.190C>G (p.Pro64Ala)
c.283C>G (p.Pro95Ala)
c.4C>G (p.Pro2Ala)
10g.124405480G=CA1942339076OATc.604C= (p.Pro202=)
n.405C=
n.450C=
c.190C= (p.Pro64=)
c.283C= (p.Pro95=)
c.4C= (p.Pro2=)
10g.124405480G>TCA378636312OATc.604C>A (p.Pro202Thr)
n.405C>A
n.450C>A
c.190C>A (p.Pro64Thr)
c.283C>A (p.Pro95Thr)
c.4C>A (p.Pro2Thr)
 ClinVar dbSNP gnomAD v4
10g.124405481C>ACA378636318OATc.603G>T (p.Met201Ile)
n.404G>T
n.449G>T
c.189G>T (p.Met63Ile)
c.282G>T (p.Met94Ile)
c.3G>T (p.Met1Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.124405481C=CA1942339077OATc.603G= (p.Met201=)
n.404G=
n.449G=
c.189G= (p.Met63=)
c.282G= (p.Met94=)
c.3G= (p.Met1=)
10g.124405481C>GCA378636321OATc.603G>C (p.Met201Ile)
n.404G>C
n.449G>C
c.189G>C (p.Met63Ile)
c.282G>C (p.Met94Ile)
c.3G>C (p.Met1Ile)
10g.124405481C>TCA378636322OATc.603G>A (p.Met201Ile)
n.404G>A
n.449G>A
c.189G>A (p.Met63Ile)
c.282G>A (p.Met94Ile)
c.3G>A (p.Met1Ile)
10g.124405482A>CCA378636323OATc.602T>G (p.Met201Arg)
n.403T>G
n.448T>G
c.188T>G (p.Met63Arg)
c.281T>G (p.Met94Arg)
c.2T>G (p.Met1Arg)
10g.124405482A>GCA378636329OATc.602T>C (p.Met201Thr)
n.403T>C
n.448T>C
c.188T>C (p.Met63Thr)
c.281T>C (p.Met94Thr)
c.2T>C (p.Met1Thr)
10g.124405482A>TCA378636331OATc.602T>A (p.Met201Lys)
n.403T>A
n.448T>A
c.188T>A (p.Met63Lys)
c.281T>A (p.Met94Lys)
c.2T>A (p.Met1Lys)
10g.124405483delCA2611308642OATc.601del (p.Met201CysfsTer29)
n.402del
n.447del
c.187del (p.Met63CysfsTer29)
c.280del (p.Met94CysfsTer29)
c.1del (p.Met1CysfsTer29)
 gnomAD v4
10g.124405483T>ACA378636332OATc.601A>T (p.Met201Leu)
n.402A>T
n.447A>T
c.187A>T (p.Met63Leu)
c.280A>T (p.Met94Leu)
c.1A>T (p.Met1Leu)
10g.124405483T>CCA378636337OATc.601A>G (p.Met201Val)
n.402A>G
n.447A>G
c.187A>G (p.Met63Val)
c.280A>G (p.Met94Val)
c.1A>G (p.Met1Val)
10g.124405483T>GCA378636335OATc.601A>C (p.Met201Leu)
n.402A>C
n.447A>C
c.187A>C (p.Met63Leu)
c.280A>C (p.Met94Leu)
c.1A>C (p.Met1Leu)
10g.124405483_124405492delCA2695201052OATc.592_601del (p.Gly198CysfsTer29)
n.393_402del
n.438_447del
c.178_187del (p.Gly60CysfsTer29)
c.271_280del (p.Gly91CysfsTer29)
c.-9_1del
 ClinVar
10g.124405484A>CCA378636340OATc.600T>G (p.Phe200Leu)
n.401T>G
n.446T>G
c.186T>G (p.Phe62Leu)
c.279T>G (p.Phe93Leu)
c.-1T>G (n.-1T>G)
10g.124405484A>GCA471762974OATc.600T>C (p.Phe200=)
n.401T>C
n.446T>C
c.186T>C (p.Phe62=)
c.279T>C (p.Phe93=)
c.-1T>C (n.-1T>C)
10g.124405484A>TCA378636341OATc.600T>A (p.Phe200Leu)
n.401T>A
n.446T>A
c.186T>A (p.Phe62Leu)
c.279T>A (p.Phe93Leu)
c.-1T>A (n.-1T>A)
10g.124405485A>CCA378636344OATc.599T>G (p.Phe200Cys)
n.400T>G
n.445T>G
c.185T>G (p.Phe62Cys)
c.278T>G (p.Phe93Cys)
c.-2T>G (n.-2T>G)
10g.124405485A>GCA378636346OATc.599T>C (p.Phe200Ser)
n.400T>C
n.445T>C
c.185T>C (p.Phe62Ser)
c.278T>C (p.Phe93Ser)
c.-2T>C (n.-2T>C)
10g.124405485A>TCA378636349OATc.599T>A (p.Phe200Tyr)
n.400T>A
n.445T>A
c.185T>A (p.Phe62Tyr)
c.278T>A (p.Phe93Tyr)
c.-2T>A (n.-2T>A)
10g.124405486A>CCA378636356OATc.598T>G (p.Phe200Val)
n.399T>G
n.444T>G
c.184T>G (p.Phe62Val)
c.277T>G (p.Phe93Val)
c.-3T>G (n.-3T>G)
10g.124405486A>GCA378636358OATc.598T>C (p.Phe200Leu)
n.399T>C
n.444T>C
c.184T>C (p.Phe62Leu)
c.277T>C (p.Phe93Leu)
c.-3T>C (n.-3T>C)
10g.124405486A>TCA378636355OATc.598T>A (p.Phe200Ile)
n.399T>A
n.444T>A
c.184T>A (p.Phe62Ile)
c.277T>A (p.Phe93Ile)
c.-3T>A (n.-3T>A)
10g.124405487T>ACA471762975OATc.597A>T (p.Pro199=)
n.398A>T
n.443A>T
c.183A>T (p.Pro61=)
c.276A>T (p.Pro92=)
c.-4A>T (n.-4A>T)
10g.124405487T>CCA471762977OATc.597A>G (p.Pro199=)
n.398A>G
n.443A>G
c.183A>G (p.Pro61=)
c.276A>G (p.Pro92=)
c.-4A>G (n.-4A>G)
 dbSNP
10g.124405487T>GCA471762976OATc.597A>C (p.Pro199=)
n.398A>C
n.443A>C
c.183A>C (p.Pro61=)
c.276A>C (p.Pro92=)
c.-4A>C (n.-4A>C)
10g.124405487T=CA1942339078OATc.597A= (p.Pro199=)
n.398A=
n.443A=
c.183A= (p.Pro61=)
c.276A= (p.Pro92=)
c.-4A= (n.-4A=)
10g.124405488G>ACA378636361OATc.596C>T (p.Pro199Leu)
n.397C>T
n.442C>T
c.182C>T (p.Pro61Leu)
c.275C>T (p.Pro92Leu)
c.-5C>T (n.-5C>T)
10g.124405488G>CCA378636363OATc.596C>G (p.Pro199Arg)
n.397C>G
n.442C>G
c.182C>G (p.Pro61Arg)
c.275C>G (p.Pro92Arg)
c.-5C>G (n.-5C>G)
10g.124405488G=CA1942339079OATc.596C= (p.Pro199=)
n.397C=
n.442C=
c.182C= (p.Pro61=)
c.275C= (p.Pro92=)
c.-5C= (n.-5C=)
10g.124405488G>TCA114019OATc.596C>A (p.Pro199Gln)
n.397C>A
n.442C>A
c.182C>A (p.Pro61Gln)
c.275C>A (p.Pro92Gln)
c.-5C>A (n.-5C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.124405489G>ACA378636368OATc.595C>T (p.Pro199Ser)
n.396C>T
n.441C>T
c.181C>T (p.Pro61Ser)
c.274C>T (p.Pro92Ser)
c.-6C>T (n.-6C>T)
10g.124405489G>CCA378636369OATc.595C>G (p.Pro199Ala)
n.396C>G
n.441C>G
c.181C>G (p.Pro61Ala)
c.274C>G (p.Pro92Ala)
c.-6C>G (n.-6C>G)
10g.124405489G=CA1942339080OATc.595C= (p.Pro199=)
n.396C=
n.441C=
c.181C= (p.Pro61=)
c.274C= (p.Pro92=)
c.-6C= (n.-6C=)
10g.124405489G>TCA378636372OATc.595C>A (p.Pro199Thr)
n.396C>A
n.441C>A
c.181C>A (p.Pro61Thr)
c.274C>A (p.Pro92Thr)
c.-6C>A (n.-6C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.124405490T>ACA471762978OATc.594A>T (p.Gly198=)
n.395A>T
n.440A>T
c.180A>T (p.Gly60=)
c.273A>T (p.Gly91=)
c.-7A>T (n.-7A>T)
10g.124405490T>CCA471762979OATc.594A>G (p.Gly198=)
n.395A>G
n.440A>G
c.180A>G (p.Gly60=)
c.273A>G (p.Gly91=)
c.-7A>G (n.-7A>G)
10g.124405490T>GCA471762980OATc.594A>C (p.Gly198=)
n.395A>C
n.440A>C
c.180A>C (p.Gly60=)
c.273A>C (p.Gly91=)
c.-7A>C (n.-7A>C)
10g.124405491C>ACA378636381OATc.593G>T (p.Gly198Val)
n.394G>T
n.439G>T
c.179G>T (p.Gly60Val)
c.272G>T (p.Gly91Val)
c.-8G>T (n.-8G>T)
10g.124405491C>GCA378636375OATc.593G>C (p.Gly198Ala)
n.394G>C
n.439G>C
c.179G>C (p.Gly60Ala)
c.272G>C (p.Gly91Ala)
c.-8G>C (n.-8G>C)
10g.124405491C>TCA378636378OATc.593G>A (p.Gly198Glu)
n.394G>A
n.439G>A
c.179G>A (p.Gly60Glu)
c.272G>A (p.Gly91Glu)
c.-8G>A (n.-8G>A)
 COSMIC
10g.124405492C>ACA378636384OATc.592G>T (p.Gly198Ter)
n.393G>T
n.438G>T
c.178G>T (p.Gly60Ter)
c.271G>T (p.Gly91Ter)
c.-9G>T (n.-9G>T)
10g.124405492C>GCA378636391OATc.592G>C (p.Gly198Arg)
n.393G>C
n.438G>C
c.178G>C (p.Gly60Arg)
c.271G>C (p.Gly91Arg)
c.-9G>C (n.-9G>C)
10g.124405492C>TCA378636396OATc.592G>A (p.Gly198Arg)
n.393G>A
n.438G>A
c.178G>A (p.Gly60Arg)
c.271G>A (p.Gly91Arg)
c.-9G>A (n.-9G>A)
10g.124405493A>CCA378636398OATc.591T>G (p.Phe197Leu)
n.392T>G
n.437T>G
c.177T>G (p.Phe59Leu)
c.270T>G (p.Phe90Leu)
c.-10T>G (n.-10T>G)
10g.124405493A>GCA471762981OATc.591T>C (p.Phe197=)
n.392T>C
n.437T>C
c.177T>C (p.Phe59=)
c.270T>C (p.Phe90=)
c.-10T>C (n.-10T>C)
10g.124405493A>TCA378636401OATc.591T>A (p.Phe197Leu)
n.392T>A
n.437T>A
c.177T>A (p.Phe59Leu)
c.270T>A (p.Phe90Leu)
c.-10T>A (n.-10T>A)
10g.124405496dupCA2739276047OATc.591dup (p.Gly198TrpfsTer13)
n.392dup
n.437dup
c.177dup (p.Gly60TrpfsTer13)
c.270dup (p.Gly91TrpfsTer13)
c.-10dup (n.-10dup)
 ClinVar
10g.124405494A>CCA378636409OATc.590T>G (p.Phe197Cys)
n.391T>G
n.436T>G
c.176T>G (p.Phe59Cys)
c.269T>G (p.Phe90Cys)
c.-11T>G (n.-11T>G)
10g.124405494A>GCA378636403OATc.590T>C (p.Phe197Ser)
n.391T>C
n.436T>C
c.176T>C (p.Phe59Ser)
c.269T>C (p.Phe90Ser)
c.-11T>C (n.-11T>C)
10g.124405494A>TCA378636406OATc.590T>A (p.Phe197Tyr)
n.391T>A
n.436T>A
c.176T>A (p.Phe59Tyr)
c.269T>A (p.Phe90Tyr)
c.-11T>A (n.-11T>A)
10g.124405495A>CCA378636411OATc.589T>G (p.Phe197Val)
n.390T>G
n.435T>G
c.175T>G (p.Phe59Val)
c.268T>G (p.Phe90Val)
c.-12T>G (n.-12T>G)
10g.124405495A>GCA378636413OATc.589T>C (p.Phe197Leu)
n.390T>C
n.435T>C
c.175T>C (p.Phe59Leu)
c.268T>C (p.Phe90Leu)
c.-12T>C (n.-12T>C)
10g.124405495A>TCA378636416OATc.589T>A (p.Phe197Ile)
n.390T>A
n.435T>A
c.175T>A (p.Phe59Ile)
c.268T>A (p.Phe90Ile)
c.-12T>A (n.-12T>A)
10g.124405496A>CCA471762984OATc.588T>G (p.Gly196=)
n.389T>G
n.434T>G
c.174T>G (p.Gly58=)
c.267T>G (p.Gly89=)
c.-13T>G (n.-13T>G)
10g.124405496A>GCA471762983OATc.588T>C (p.Gly196=)
n.389T>C
n.434T>C
c.174T>C (p.Gly58=)
c.267T>C (p.Gly89=)
c.-13T>C (n.-13T>C)
10g.124405496A>TCA471762982OATc.588T>A (p.Gly196=)
n.389T>A
n.434T>A
c.174T>A (p.Gly58=)
c.267T>A (p.Gly89=)
c.-13T>A (n.-13T>A)
10g.124405497C>ACA378636419OATc.587G>T (p.Gly196Val)
n.388G>T
n.433G>T
c.173G>T (p.Gly58Val)
c.266G>T (p.Gly89Val)
c.-14G>T (n.-14G>T)
10g.124405497C>GCA378636420OATc.587G>C (p.Gly196Ala)
n.388G>C
n.433G>C
c.173G>C (p.Gly58Ala)
c.266G>C (p.Gly89Ala)
c.-14G>C (n.-14G>C)
10g.124405497C>TCA378636423OATc.587G>A (p.Gly196Asp)
n.388G>A
n.433G>A
c.173G>A (p.Gly58Asp)
c.266G>A (p.Gly89Asp)
c.-14G>A (n.-14G>A)
10g.124405498C>ACA378636426OATc.586G>T (p.Gly196Cys)
n.387G>T
n.432G>T
c.172G>T (p.Gly58Cys)
c.265G>T (p.Gly89Cys)
c.-15G>T (n.-15G>T)
10g.124405498C>GCA378636428OATc.586G>C (p.Gly196Arg)
n.387G>C
n.432G>C
c.172G>C (p.Gly58Arg)
c.265G>C (p.Gly89Arg)
c.-15G>C (n.-15G>C)
10g.124405498C>TCA378636430OATc.586G>A (p.Gly196Ser)
n.387G>A
n.432G>A
c.172G>A (p.Gly58Ser)
c.265G>A (p.Gly89Ser)
c.-15G>A (n.-15G>A)
 gnomAD v4
10g.124405499A=CA1942339081OATc.585T= (p.Asp195=)
n.386T=
n.431T=
c.171T= (p.Asp57=)
c.264T= (p.Asp88=)
c.-16T= (n.-16T=)
10g.124405499A>CCA378636433OATc.585T>G (p.Asp195Glu)
n.386T>G
n.431T>G
c.171T>G (p.Asp57Glu)
c.264T>G (p.Asp88Glu)
c.-16T>G (n.-16T>G)
10g.124405499A>GCA5733492OATc.585T>C (p.Asp195=)
n.386T>C
n.431T>C
c.171T>C (p.Asp57=)
c.264T>C (p.Asp88=)
c.-16T>C (n.-16T>C)
 dbSNP ExAC gnomAD v2
10g.124405499A>TCA378636437OATc.585T>A (p.Asp195Glu)
n.386T>A
n.431T>A
c.171T>A (p.Asp57Glu)
c.264T>A (p.Asp88Glu)
c.-16T>A (n.-16T>A)
10g.124405500T>ACA378636440OATc.584A>T (p.Asp195Val)
n.385A>T
n.430A>T
c.170A>T (p.Asp57Val)
c.263A>T (p.Asp88Val)
c.-17A>T (n.-17A>T)
10g.124405500T>CCA378636444OATc.584A>G (p.Asp195Gly)
n.385A>G
n.430A>G
c.170A>G (p.Asp57Gly)
c.263A>G (p.Asp88Gly)
c.-17A>G (n.-17A>G)
10g.124405500T>GCA378636442OATc.584A>C (p.Asp195Ala)
n.385A>C
n.430A>C
c.170A>C (p.Asp57Ala)
c.263A>C (p.Asp88Ala)
c.-17A>C (n.-17A>C)
10g.124405501C>ACA144168OATc.583G>T (p.Asp195Tyr)
n.384G>T
n.429G>T
c.169G>T (p.Asp57Tyr)
c.262G>T (p.Asp88Tyr)
c.-18G>T (n.-18G>T)
 ClinVar dbSNP
10g.124405501C=CA1942339082OATc.583G= (p.Asp195=)
n.384G=
n.429G=
c.169G= (p.Asp57=)
c.262G= (p.Asp88=)
c.-18G= (n.-18G=)
10g.124405501C>GCA378636450OATc.583G>C (p.Asp195His)
n.384G>C
n.429G>C
c.169G>C (p.Asp57His)
c.262G>C (p.Asp88His)
c.-18G>C (n.-18G>C)
 gnomAD v4
10g.124405501C>TCA378636453OATc.583G>A (p.Asp195Asn)
n.384G>A
n.429G>A
c.169G>A (p.Asp57Asn)
c.262G>A (p.Asp88Asn)
c.-18G>A (n.-18G>A)
 ClinVar dbSNP gnomAD v4
10g.124405502G>ACA5733493OATc.582C>T (p.Tyr194=)
n.383C>T
n.428C>T
c.168C>T (p.Tyr56=)
c.261C>T (p.Tyr87=)
c.-19C>T (n.-19C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.124405502G>CCA378636457OATc.582C>G (p.Tyr194Ter)
n.383C>G
n.428C>G
c.168C>G (p.Tyr56Ter)
c.261C>G (p.Tyr87Ter)
c.-19C>G (n.-19C>G)
 ClinVar
10g.124405502G=CA1942339083OATc.582C= (p.Tyr194=)
n.383C=
n.428C=
c.168C= (p.Tyr56=)
c.261C= (p.Tyr87=)
c.-19C= (n.-19C=)
10g.124405502G>TCA378636460OATc.582C>A (p.Tyr194Ter)
n.383C>A
n.428C>A
c.168C>A (p.Tyr56Ter)
c.261C>A (p.Tyr87Ter)
c.-19C>A (n.-19C>A)
10g.124405503T>ACA378636463OATc.581A>T (p.Tyr194Phe)
n.382A>T
n.427A>T
c.167A>T (p.Tyr56Phe)
c.260A>T (p.Tyr87Phe)
c.-20A>T (n.-20A>T)
10g.124405503T>CCA378636464OATc.581A>G (p.Tyr194Cys)
n.382A>G
n.427A>G
c.167A>G (p.Tyr56Cys)
c.260A>G (p.Tyr87Cys)
c.-20A>G (n.-20A>G)
10g.124405503T>GCA378636467OATc.581A>C (p.Tyr194Ser)
n.382A>C
n.427A>C
c.167A>C (p.Tyr56Ser)
c.260A>C (p.Tyr87Ser)
c.-20A>C (n.-20A>C)
10g.124405503dupCA2574709520OATc.581dup (p.Tyr194Ter)
n.382dup
n.427dup
c.167dup (p.Tyr56Ter)
c.260dup (p.Tyr87Ter)
c.-20dup (n.-20dup)
 ClinVar
10g.124405504A>CCA378636469OATc.580T>G (p.Tyr194Asp)
n.381T>G
n.426T>G
c.166T>G (p.Tyr56Asp)
c.259T>G (p.Tyr87Asp)
c.-21T>G (n.-21T>G)
10g.124405504A>GCA378636470OATc.580T>C (p.Tyr194His)
n.381T>C
n.426T>C
c.166T>C (p.Tyr56His)
c.259T>C (p.Tyr87His)
c.-21T>C (n.-21T>C)
 gnomAD v4
10g.124405504A>TCA378636473OATc.580T>A (p.Tyr194Asn)
n.381T>A
n.426T>A
c.166T>A (p.Tyr56Asn)
c.259T>A (p.Tyr87Asn)
c.-21T>A (n.-21T>A)
10g.124405505delCA2509165103OATc.580del (p.Tyr194ThrfsTer?)
n.381del
n.426del
c.166del (p.Tyr56ThrfsTer?)
c.259del (p.Tyr87ThrfsTer?)
c.-21del (n.-21del)
10g.124405505A>CCA378636478OATc.579T>G (p.Ser193Arg)
n.380T>G
n.425T>G
c.165T>G (p.Ser55Arg)
c.258T>G (p.Ser86Arg)
c.-22T>G (n.-22T>G)
10g.124405505A>GCA471762985OATc.579T>C (p.Ser193=)
n.380T>C
n.425T>C
c.165T>C (p.Ser55=)
c.258T>C (p.Ser86=)
c.-22T>C (n.-22T>C)
10g.124405505A>TCA378636476OATc.579T>A (p.Ser193Arg)
n.380T>A
n.425T>A
c.165T>A (p.Ser55Arg)
c.258T>A (p.Ser86Arg)
c.-22T>A (n.-22T>A)
10g.124405506C>ACA378636480OATc.578G>T (p.Ser193Ile)
n.379G>T
n.424G>T
c.164G>T (p.Ser55Ile)
c.257G>T (p.Ser86Ile)
c.-23G>T (n.-23G>T)
10g.124405506C=CA1942339084OATc.578G= (p.Ser193=)
n.379G=
n.424G=
c.164G= (p.Ser55=)
c.257G= (p.Ser86=)
c.-23G= (n.-23G=)
10g.124405506C>GCA378636482OATc.578G>C (p.Ser193Thr)
n.379G>C
n.424G>C
c.164G>C (p.Ser55Thr)
c.257G>C (p.Ser86Thr)
c.-23G>C (n.-23G>C)
10g.124405506C>TCA5733494OATc.578G>A (p.Ser193Asn)
n.379G>A
n.424G>A
c.164G>A (p.Ser55Asn)
c.257G>A (p.Ser86Asn)
c.-23G>A (n.-23G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.124405507T>ACA378636490OATc.577A>T (p.Ser193Cys)
n.378A>T
n.423A>T
c.163A>T (p.Ser55Cys)
c.256A>T (p.Ser86Cys)
c.-24A>T (n.-24A>T)
10g.124405507T>CCA378636492OATc.577A>G (p.Ser193Gly)
n.378A>G
n.423A>G
c.163A>G (p.Ser55Gly)
c.256A>G (p.Ser86Gly)
c.-24A>G (n.-24A>G)
10g.124405507T>GCA378636495OATc.577A>C (p.Ser193Arg)
n.378A>C
n.423A>C
c.163A>C (p.Ser55Arg)
c.256A>C (p.Ser86Arg)
c.-24A>C (n.-24A>C)
10g.124405508G>ACA471762986OATc.576C>T (p.Thr192=)
n.377C>T
n.422C>T
c.162C>T (p.Thr54=)
c.255C>T (p.Thr85=)
c.-25C>T (n.-25C>T)
10g.124405508G>CCA471762987OATc.576C>G (p.Thr192=)
n.377C>G
n.422C>G
c.162C>G (p.Thr54=)
c.255C>G (p.Thr85=)
c.-25C>G (n.-25C>G)
10g.124405508G>TCA471762988OATc.576C>A (p.Thr192=)
n.377C>A
n.422C>A
c.162C>A (p.Thr54=)
c.255C>A (p.Thr85=)
c.-25C>A (n.-25C>A)
10g.124405509delCA2499220187OATc.576del (p.Ser193ValfsTer?)
n.377del
n.422del
c.162del (p.Ser55ValfsTer?)
c.255del (p.Ser86ValfsTer?)
c.-25del (n.-25del)
 ClinVar dbSNP
10g.124405509G>ACA378636498OATc.575C>T (p.Thr192Ile)
n.376C>T
n.421C>T
c.161C>T (p.Thr54Ile)
c.254C>T (p.Thr85Ile)
c.-26C>T (n.-26C>T)
10g.124405509G>CCA378636501OATc.575C>G (p.Thr192Ser)
n.376C>G
n.421C>G
c.161C>G (p.Thr54Ser)
c.254C>G (p.Thr85Ser)
c.-26C>G (n.-26C>G)
10g.124405509G>TCA378636503OATc.575C>A (p.Thr192Asn)
n.376C>A
n.421C>A
c.161C>A (p.Thr54Asn)
c.254C>A (p.Thr85Asn)
c.-26C>A (n.-26C>A)
10g.124405510T>ACA378636505OATc.574A>T (p.Thr192Ser)
n.375A>T
n.420A>T
c.160A>T (p.Thr54Ser)
c.253A>T (p.Thr85Ser)
c.-27A>T (n.-27A>T)
10g.124405510T>CCA378636507OATc.574A>G (p.Thr192Ala)
n.375A>G
n.420A>G
c.160A>G (p.Thr54Ala)
c.253A>G (p.Thr85Ala)
c.-27A>G (n.-27A>G)
 dbSNP gnomAD v3 gnomAD v4
10g.124405510T>GCA378636508OATc.574A>C (p.Thr192Pro)
n.375A>C
n.420A>C
c.160A>C (p.Thr54Pro)
c.253A>C (p.Thr85Pro)
c.-27A>C (n.-27A>C)
10g.124405510T=CA1942339085OATc.574A= (p.Thr192=)
n.375A=
n.420A=
c.160A= (p.Thr54=)
c.253A= (p.Thr85=)
c.-27A= (n.-27A=)
10g.124405511T>ACA471762989OATc.573A>T (p.Pro191=)
n.374A>T
n.419A>T
c.159A>T (p.Pro53=)
c.252A>T (p.Pro84=)
c.-28A>T (n.-28A>T)
10g.124405511T>CCA471762990OATc.573A>G (p.Pro191=)
n.374A>G
n.419A>G
c.159A>G (p.Pro53=)
c.252A>G (p.Pro84=)
c.-28A>G (n.-28A>G)
 ClinVar
10g.124405511T>GCA471762991OATc.573A>C (p.Pro191=)
n.374A>C
n.419A>C
c.159A>C (p.Pro53=)
c.252A>C (p.Pro84=)
c.-28A>C (n.-28A>C)
10g.124405512G>ACA378636513OATc.572C>T (p.Pro191Leu)
n.373C>T
n.418C>T
c.158C>T (p.Pro53Leu)
c.251C>T (p.Pro84Leu)
c.-29C>T (n.-29C>T)
10g.124405512G>CCA378636511OATc.572C>G (p.Pro191Arg)
n.373C>G
n.418C>G
c.158C>G (p.Pro53Arg)
c.251C>G (p.Pro84Arg)
c.-29C>G (n.-29C>G)
10g.124405512G>TCA378636510OATc.572C>A (p.Pro191Gln)
n.373C>A
n.418C>A
c.158C>A (p.Pro53Gln)
c.251C>A (p.Pro84Gln)
c.-29C>A (n.-29C>A)
10g.124405513G>ACA378636515OATc.571C>T (p.Pro191Ser)
n.372C>T
n.417C>T
c.157C>T (p.Pro53Ser)
c.250C>T (p.Pro84Ser)
c.-30C>T (n.-30C>T)
 dbSNP gnomAD v4
10g.124405513G>CCA378636519OATc.571C>G (p.Pro191Ala)
n.372C>G
n.417C>G
c.157C>G (p.Pro53Ala)
c.250C>G (p.Pro84Ala)
c.-30C>G (n.-30C>G)
10g.124405513G=CA1942339086OATc.571C= (p.Pro191=)
n.372C=
n.417C=
c.157C= (p.Pro53=)
c.250C= (p.Pro84=)
c.-30C= (n.-30C=)
10g.124405513G>TCA378636517OATc.571C>A (p.Pro191Thr)
n.372C>A
n.417C>A
c.157C>A (p.Pro53Thr)
c.250C>A (p.Pro84Thr)
c.-30C>A (n.-30C>A)
10g.124405514G>ACA471762992OATc.570C>T (p.Asp190=)
n.371C>T
n.416C>T
c.156C>T (p.Asp52=)
c.249C>T (p.Asp83=)
c.-31C>T (n.-31C>T)
 dbSNP
10g.124405514G>CCA378636522OATc.570C>G (p.Asp190Glu)
n.371C>G
n.416C>G
c.156C>G (p.Asp52Glu)
c.249C>G (p.Asp83Glu)
c.-31C>G (n.-31C>G)
10g.124405514G=CA1942339087OATc.570C= (p.Asp190=)
n.371C=
n.416C=
c.156C= (p.Asp52=)
c.249C= (p.Asp83=)
c.-31C= (n.-31C=)
10g.124405514G>TCA378636524OATc.570C>A (p.Asp190Glu)
n.371C>A
n.416C>A
c.156C>A (p.Asp52Glu)
c.249C>A (p.Asp83Glu)
c.-31C>A (n.-31C>A)
 gnomAD v4
10g.124405515T>ACA378636527OATc.569A>T (p.Asp190Val)
n.370A>T
n.415A>T
c.155A>T (p.Asp52Val)
c.248A>T (p.Asp83Val)
c.-32A>T (n.-32A>T)
10g.124405515T>CCA378636531OATc.569A>G (p.Asp190Gly)
n.370A>G
n.415A>G
c.155A>G (p.Asp52Gly)
c.248A>G (p.Asp83Gly)
c.-32A>G (n.-32A>G)
10g.124405515T>GCA215250586OATc.569A>C (p.Asp190Ala)
n.370A>C
n.415A>C
c.155A>C (p.Asp52Ala)
c.248A>C (p.Asp83Ala)
c.-32A>C (n.-32A>C)
 dbSNP gnomAD v4
10g.124405515T=CA1942339088OATc.569A= (p.Asp190=)
n.370A=
n.415A=
c.155A= (p.Asp52=)
c.248A= (p.Asp83=)
c.-32A= (n.-32A=)
10g.124405516C>ACA378636533OATc.568G>T (p.Asp190Tyr)
n.369G>T
n.414G>T
c.154G>T (p.Asp52Tyr)
c.247G>T (p.Asp83Tyr)
c.-33G>T (n.-33G>T)
10g.124405516C>GCA378636537OATc.568G>C (p.Asp190His)
n.369G>C
n.414G>C
c.154G>C (p.Asp52His)
c.247G>C (p.Asp83His)
c.-33G>C (n.-33G>C)
10g.124405516C>TCA378636535OATc.568G>A (p.Asp190Asn)
n.369G>A
n.414G>A
c.154G>A (p.Asp52Asn)
c.247G>A (p.Asp83Asn)
c.-33G>A (n.-33G>A)
 gnomAD v4
10g.124405517T>ACA471762993OATc.567A>T (p.Thr189=)
n.368A>T
n.413A>T
c.153A>T (p.Thr51=)
c.246A>T (p.Thr82=)
c.-34A>T (n.-34A>T)
10g.124405517T>CCA471762995OATc.567A>G (p.Thr189=)
n.368A>G
n.413A>G
c.153A>G (p.Thr51=)
c.246A>G (p.Thr82=)
c.-34A>G (n.-34A>G)
 ClinVar dbSNP
10g.124405517T>GCA471762994OATc.567A>C (p.Thr189=)
n.368A>C
n.413A>C
c.153A>C (p.Thr51=)
c.246A>C (p.Thr82=)
c.-34A>C (n.-34A>C)
10g.124405518G>ACA5733495OATc.566C>T (p.Thr189Ile)
n.367C>T
n.412C>T
c.152C>T (p.Thr51Ile)
c.245C>T (p.Thr82Ile)
c.-35C>T (n.-35C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.124405518G>CCA378636544OATc.566C>G (p.Thr189Arg)
n.367C>G
n.412C>G
c.152C>G (p.Thr51Arg)
c.245C>G (p.Thr82Arg)
c.-35C>G (n.-35C>G)
10g.124405518G=CA1942339089OATc.566C= (p.Thr189=)
n.367C=
n.412C=
c.152C= (p.Thr51=)
c.245C= (p.Thr82=)
c.-35C= (n.-35C=)
10g.124405518G>TCA378636541OATc.566C>A (p.Thr189Lys)
n.367C>A
n.412C>A
c.152C>A (p.Thr51Lys)
c.245C>A (p.Thr82Lys)
c.-35C>A (n.-35C>A)
10g.124405519T>ACA378636547OATc.565A>T (p.Thr189Ser)
n.366A>T
n.411A>T
c.151A>T (p.Thr51Ser)
c.244A>T (p.Thr82Ser)
c.-36A>T (n.-36A>T)
10g.124405519T>CCA378636551OATc.565A>G (p.Thr189Ala)
n.366A>G
n.411A>G
c.151A>G (p.Thr51Ala)
c.244A>G (p.Thr82Ala)
c.-36A>G (n.-36A>G)
 ClinVar dbSNP
10g.124405519T>GCA378636548OATc.565A>C (p.Thr189Pro)
n.366A>C
n.411A>C
c.151A>C (p.Thr51Pro)
c.244A>C (p.Thr82Pro)
c.-36A>C (n.-36A>C)
10g.124405519T=CA1942339090OATc.565A= (p.Thr189=)
n.366A=
n.411A=
c.151A= (p.Thr51=)
c.244A= (p.Thr82=)
c.-36A= (n.-36A=)
10g.124405520G>ACA471762996OATc.564C>T (p.Ser188=)
n.365C>T
n.410C>T
c.150C>T (p.Ser50=)
c.243C>T (p.Ser81=)
c.-37C>T (n.-37C>T)
 gnomAD v4
10g.124405520G>CCA471762997OATc.564C>G (p.Ser188=)
n.365C>G
n.410C>G
c.150C>G (p.Ser50=)
c.243C>G (p.Ser81=)
c.-37C>G (n.-37C>G)
10g.124405520G>TCA471762998OATc.564C>A (p.Ser188=)
n.365C>A
n.410C>A
c.150C>A (p.Ser50=)
c.243C>A (p.Ser81=)
c.-37C>A (n.-37C>A)
10g.124405521G>ACA378636555OATc.563C>T (p.Ser188Phe)
n.364C>T
n.409C>T
c.149C>T (p.Ser50Phe)
c.242C>T (p.Ser81Phe)
c.-38C>T (n.-38C>T)
10g.124405521G>CCA378636556OATc.563C>G (p.Ser188Cys)
n.364C>G
n.409C>G
c.149C>G (p.Ser50Cys)
c.242C>G (p.Ser81Cys)
c.-38C>G (n.-38C>G)
10g.124405521G>TCA378636558OATc.563C>A (p.Ser188Tyr)
n.364C>A
n.409C>A
c.149C>A (p.Ser50Tyr)
c.242C>A (p.Ser81Tyr)
c.-38C>A (n.-38C>A)
10g.124405522A>CCA378636560OATc.562T>G (p.Ser188Ala)
n.363T>G
n.408T>G
c.148T>G (p.Ser50Ala)
c.241T>G (p.Ser81Ala)
c.-39T>G (n.-39T>G)
10g.124405522A>GCA378636561OATc.562T>C (p.Ser188Pro)
n.363T>C
n.408T>C
c.148T>C (p.Ser50Pro)
c.241T>C (p.Ser81Pro)
c.-39T>C (n.-39T>C)
10g.124405522A>TCA378636563OATc.562T>A (p.Ser188Thr)
n.363T>A
n.408T>A
c.148T>A (p.Ser50Thr)
c.241T>A (p.Ser81Thr)
c.-39T>A (n.-39T>A)
10g.124405523A=CA1942339091OATc.561T= (p.Ser187=)
n.362T=
n.407T=
c.147T= (p.Ser49=)
c.240T= (p.Ser80=)
c.-40T= (n.-40T=)
10g.124405523A>CCA378636566OATc.561T>G (p.Ser187Arg)
n.362T>G
n.407T>G
c.147T>G (p.Ser49Arg)
c.240T>G (p.Ser80Arg)
c.-40T>G (n.-40T>G)
10g.124405523A>GCA471762999OATc.561T>C (p.Ser187=)
n.362T>C
n.407T>C
c.147T>C (p.Ser49=)
c.240T>C (p.Ser80=)
c.-40T>C (n.-40T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.124405523A>TCA378636564OATc.561T>A (p.Ser187Arg)
n.362T>A
n.407T>A
c.147T>A (p.Ser49Arg)
c.240T>A (p.Ser80Arg)
c.-40T>A (n.-40T>A)
10g.124405524C>ACA378636569OATc.560G>T (p.Ser187Ile)
n.361G>T
n.406G>T
c.146G>T (p.Ser49Ile)
c.239G>T (p.Ser80Ile)
c.-41G>T (n.-41G>T)
10g.124405524C>GCA378636570OATc.560G>C (p.Ser187Thr)
n.361G>C
n.406G>C
c.146G>C (p.Ser49Thr)
c.239G>C (p.Ser80Thr)
c.-41G>C (n.-41G>C)
10g.124405524C>TCA378636574OATc.560G>A (p.Ser187Asn)
n.361G>A
n.406G>A
c.146G>A (p.Ser49Asn)
c.239G>A (p.Ser80Asn)
c.-41G>A (n.-41G>A)
10g.124405525T>ACA378636576OATc.559A>T (p.Ser187Cys)
n.360A>T
n.405A>T
c.145A>T (p.Ser49Cys)
c.238A>T (p.Ser80Cys)
c.-42A>T (n.-42A>T)
10g.124405525T>CCA378636578OATc.559A>G (p.Ser187Gly)
n.360A>G
n.405A>G
c.145A>G (p.Ser49Gly)
c.238A>G (p.Ser80Gly)
c.-42A>G (n.-42A>G)
 gnomAD v4
10g.124405525T>GCA378636580OATc.559A>C (p.Ser187Arg)
n.360A>C
n.405A>C
c.145A>C (p.Ser49Arg)
c.238A>C (p.Ser80Arg)
c.-42A>C (n.-42A>C)
10g.124405526G>ACA471763000OATc.558C>T (p.Ser186=)
n.359C>T
n.404C>T
c.144C>T (p.Ser48=)
c.237C>T (p.Ser79=)
c.-43C>T (n.-43C>T)
 ClinVar dbSNP
10g.124405526G>CCA471763001OATc.558C>G (p.Ser186=)
n.359C>G
n.404C>G
c.144C>G (p.Ser48=)
c.237C>G (p.Ser79=)
c.-43C>G (n.-43C>G)
10g.124405526G=CA1942339092OATc.558C= (p.Ser186=)
n.359C=
n.404C=
c.144C= (p.Ser48=)
c.237C= (p.Ser79=)
c.-43C= (n.-43C=)
10g.124405526G>TCA471763002OATc.558C>A (p.Ser186=)
n.359C>A
n.404C>A
c.144C>A (p.Ser48=)
c.237C>A (p.Ser79=)
c.-43C>A (n.-43C>A)
10g.124405527G>ACA378636582OATc.557C>T (p.Ser186Phe)
n.358C>T
n.403C>T
c.143C>T (p.Ser48Phe)
c.236C>T (p.Ser79Phe)
c.-44C>T (n.-44C>T)
10g.124405527G>CCA378636586OATc.557C>G (p.Ser186Cys)
n.358C>G
n.403C>G
c.143C>G (p.Ser48Cys)
c.236C>G (p.Ser79Cys)
c.-44C>G (n.-44C>G)
10g.124405527G>TCA378636584OATc.557C>A (p.Ser186Tyr)
n.358C>A
n.403C>A
c.143C>A (p.Ser48Tyr)
c.236C>A (p.Ser79Tyr)
c.-44C>A (n.-44C>A)
10g.124405528A>CCA378636596OATc.556T>G (p.Ser186Ala)
n.357T>G
n.402T>G
c.142T>G (p.Ser48Ala)
c.235T>G (p.Ser79Ala)
c.-45T>G (n.-45T>G)
10g.124405528A>GCA378636598OATc.556T>C (p.Ser186Pro)
n.357T>C
n.402T>C
c.142T>C (p.Ser48Pro)
c.235T>C (p.Ser79Pro)
c.-45T>C (n.-45T>C)
10g.124405528A>TCA378636601OATc.556T>A (p.Ser186Thr)
n.357T>A
n.402T>A
c.142T>A (p.Ser48Thr)
c.235T>A (p.Ser79Thr)
c.-45T>A (n.-45T>A)
10g.124405529G>ACA471763003OATc.555C>T (p.Ile185=)
n.356C>T
n.401C>T
c.141C>T (p.Ile47=)
c.234C>T (p.Ile78=)
c.-46C>T (n.-46C>T)
 gnomAD v4
10g.124405529G>CCA5733496OATc.555C>G (p.Ile185Met)
n.356C>G
n.401C>G
c.141C>G (p.Ile47Met)
c.234C>G (p.Ile78Met)
c.-46C>G (n.-46C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.124405529G=CA1942339093OATc.555C= (p.Ile185=)
n.356C=
n.401C=
c.141C= (p.Ile47=)
c.234C= (p.Ile78=)
c.-46C= (n.-46C=)
10g.124405529G>TCA471763004OATc.555C>A (p.Ile185=)
n.356C>A
n.401C>A
c.141C>A (p.Ile47=)
c.234C>A (p.Ile78=)
c.-46C>A (n.-46C>A)
10g.124405530A=CA1942339094OATc.554T= (p.Ile185=)
n.355T=
n.400T=
c.140T= (p.Ile47=)
c.233T= (p.Ile78=)
c.-47T= (n.-47T=)
10g.124405530A>CCA378636611OATc.554T>G (p.Ile185Ser)
n.355T>G
n.400T>G
c.140T>G (p.Ile47Ser)
c.233T>G (p.Ile78Ser)
c.-47T>G (n.-47T>G)
10g.124405530A>GCA378636613OATc.554T>C (p.Ile185Thr)
n.355T>C
n.400T>C
c.140T>C (p.Ile47Thr)
c.233T>C (p.Ile78Thr)
c.-47T>C (n.-47T>C)
10g.124405530A>TCA378636615OATc.554T>A (p.Ile185Asn)
n.355T>A
n.400T>A
c.140T>A (p.Ile47Asn)
c.233T>A (p.Ile78Asn)
c.-47T>A (n.-47T>A)
10g.124405531delCA2611308677OATc.553del (p.Ile185SerfsTer?)
n.354del
n.399del
c.139del (p.Ile47SerfsTer?)
c.232del (p.Ile78SerfsTer?)
c.-48del (n.-48del)
 gnomAD v4
10g.124405531T>ACA378636618OATc.553A>T (p.Ile185Phe)
n.354A>T
n.399A>T
c.139A>T (p.Ile47Phe)
c.232A>T (p.Ile78Phe)
c.-48A>T (n.-48A>T)
10g.124405531T>CCA5733497OATc.553A>G (p.Ile185Val)
n.354A>G
n.399A>G
c.139A>G (p.Ile47Val)
c.232A>G (p.Ile78Val)
c.-48A>G (n.-48A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.124405531T>GCA378636622OATc.553A>C (p.Ile185Leu)
n.354A>C
n.399A>C
c.139A>C (p.Ile47Leu)
c.232A>C (p.Ile78Leu)
c.-48A>C (n.-48A>C)
10g.124405531T=CA1942339095OATc.553A= (p.Ile185=)
n.354A=
n.399A=
c.139A= (p.Ile47=)
c.232A= (p.Ile78=)
c.-48A= (n.-48A=)
10g.124405531dupCA933440100OATc.553dup (p.Ile185AsnfsTer26)
n.354dup
n.399dup
c.139dup (p.Ile47AsnfsTer26)
c.232dup (p.Ile78AsnfsTer26)
c.-48dup (n.-48dup)
 dbSNP gnomAD v3 gnomAD v4
10g.124405531_124405534delinsTAGCCA1942339096OATc.550_553delinsGCTA (p.Ala184=)
n.351_354delinsGCTA
n.396_399delinsGCTA
c.136_139delinsGCTA (p.Ala46=)
c.229_232delinsGCTA (p.Ala77=)
c.-51_-48delinsGCTA (n.-51_-48delinsGCTA)
10g.124405532A=CA1942339097OATc.552T= (p.Ala184=)
n.353T=
n.398T=
c.138T= (p.Ala46=)
c.231T= (p.Ala77=)
c.-49T= (n.-49T=)
10g.124405532A>CCA471763007OATc.552T>G (p.Ala184=)
n.353T>G
n.398T>G
c.138T>G (p.Ala46=)
c.231T>G (p.Ala77=)
c.-49T>G (n.-49T>G)
10g.124405532A>GCA471763006OATc.552T>C (p.Ala184=)
n.353T>C
n.398T>C
c.138T>C (p.Ala46=)
c.231T>C (p.Ala77=)
c.-49T>C (n.-49T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.124405532A>TCA471763005OATc.552T>A (p.Ala184=)
n.353T>A
n.398T>A
c.138T>A (p.Ala46=)
c.231T>A (p.Ala77=)
c.-49T>A (n.-49T>A)
10g.124405532dupCA2574709529OATc.552dup (p.Ile185TyrfsTer26)
n.353dup
n.398dup
c.138dup (p.Ile47TyrfsTer26)
c.231dup (p.Ile78TyrfsTer26)
c.-49dup (n.-49dup)
10g.124405534_124405536delCA113916OATc.550_552del (p.Ala184del)
n.351_353del
n.396_398del
c.136_138del (p.Ala46del)
c.229_231del (p.Ala77del)
c.-51_-49del (n.-51_-49del)
 ClinVar dbSNP
10g.124405533G>ACA378636627OATc.551C>T (p.Ala184Val)
n.352C>T
n.397C>T
c.137C>T (p.Ala46Val)
c.230C>T (p.Ala77Val)
c.-50C>T (n.-50C>T)
10g.124405533G>CCA378636630OATc.551C>G (p.Ala184Gly)
n.352C>G
n.397C>G
c.137C>G (p.Ala46Gly)
c.230C>G (p.Ala77Gly)
c.-50C>G (n.-50C>G)
10g.124405533G>TCA378636629OATc.551C>A (p.Ala184Asp)
n.352C>A
n.397C>A
c.137C>A (p.Ala46Asp)
c.230C>A (p.Ala77Asp)
c.-50C>A (n.-50C>A)
10g.124405534C>ACA378636636OATc.550G>T (p.Ala184Ser)
n.351G>T
n.396G>T
c.136G>T (p.Ala46Ser)
c.229G>T (p.Ala77Ser)
c.-51G>T (n.-51G>T)
10g.124405534C=CA1942339098OATc.550G= (p.Ala184=)
n.351G=
n.396G=
c.136G= (p.Ala46=)
c.229G= (p.Ala77=)
c.-51G= (n.-51G=)
10g.124405534C>GCA378636637OATc.550G>C (p.Ala184Pro)
n.351G>C
n.396G>C
c.136G>C (p.Ala46Pro)
c.229G>C (p.Ala77Pro)
c.-51G>C (n.-51G>C)
10g.124405534C>TCA113971OATc.550G>A (p.Ala184Thr)
n.351G>A
n.396G>A
c.136G>A (p.Ala46Thr)
c.229G>A (p.Ala77Thr)
c.-51G>A (n.-51G>A)
 ClinVar dbSNP gnomAD v4
10g.124405535A>CCA471763008OATc.549T>G (p.Ser183=)
n.350T>G
n.395T>G
c.135T>G (p.Ser45=)
c.228T>G (p.Ser76=)
c.-52T>G (n.-52T>G)
10g.124405535A>GCA471763009OATc.549T>C (p.Ser183=)
n.350T>C
n.395T>C
c.135T>C (p.Ser45=)
c.228T>C (p.Ser76=)
c.-52T>C (n.-52T>C)
10g.124405535A>TCA471763010OATc.549T>A (p.Ser183=)
n.350T>A
n.395T>A
c.135T>A (p.Ser45=)
c.228T>A (p.Ser76=)
c.-52T>A (n.-52T>A)
10g.124405536G>ACA378636640OATc.548C>T (p.Ser183Phe)
n.349C>T
n.394C>T
c.134C>T (p.Ser45Phe)
c.227C>T (p.Ser76Phe)
c.-53C>T (n.-53C>T)
10g.124405536G>CCA378636643OATc.548C>G (p.Ser183Cys)
n.349C>G
n.394C>G
c.134C>G (p.Ser45Cys)
c.227C>G (p.Ser76Cys)
c.-53C>G (n.-53C>G)
 ClinVar dbSNP
10g.124405536G>TCA378636644OATc.548C>A (p.Ser183Tyr)
n.349C>A
n.394C>A
c.134C>A (p.Ser45Tyr)
c.227C>A (p.Ser76Tyr)
c.-53C>A (n.-53C>A)
10g.124405537A>CCA378636646OATc.547T>G (p.Ser183Ala)
n.348T>G
n.393T>G
c.133T>G (p.Ser45Ala)
c.226T>G (p.Ser76Ala)
c.-54T>G (n.-54T>G)
10g.124405537A>GCA378636647OATc.547T>C (p.Ser183Pro)
n.348T>C
n.393T>C
c.133T>C (p.Ser45Pro)
c.226T>C (p.Ser76Pro)
c.-54T>C (n.-54T>C)
10g.124405537A>TCA378636649OATc.547T>A (p.Ser183Thr)
n.348T>A
n.393T>A
c.133T>A (p.Ser45Thr)
c.226T>A (p.Ser76Thr)
c.-54T>A (n.-54T>A)
10g.124405538C>ACA5733498OATc.546G>T (p.Leu182Phe)
n.347G>T
n.392G>T
c.132G>T (p.Leu44Phe)
c.225G>T (p.Leu75Phe)
c.-55G>T (n.-55G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.124405538C=CA1942339099OATc.546G= (p.Leu182=)
n.347G=
n.392G=
c.132G= (p.Leu44=)
c.225G= (p.Leu75=)
c.-55G= (n.-55G=)
10g.124405538C>GCA378636654OATc.546G>C (p.Leu182Phe)
n.347G>C
n.392G>C
c.132G>C (p.Leu44Phe)
c.225G>C (p.Leu75Phe)
c.-55G>C (n.-55G>C)
10g.124405538C>TCA471763011OATc.546G>A (p.Leu182=)
n.347G>A
n.392G>A
c.132G>A (p.Leu44=)
c.225G>A (p.Leu75=)
c.-55G>A (n.-55G>A)
 dbSNP
10g.124405539A=CA1942339100OATc.545T= (p.Leu182=)
n.346T=
n.391T=
c.131T= (p.Leu44=)
c.224T= (p.Leu75=)
c.-56T= (n.-56T=)
10g.124405539A>CCA378636659OATc.545T>G (p.Leu182Trp)
n.346T>G
n.391T>G
c.131T>G (p.Leu44Trp)
c.224T>G (p.Leu75Trp)
c.-56T>G (n.-56T>G)
10g.124405539A>GCA5733499OATc.545T>C (p.Leu182Ser)
n.346T>C
n.391T>C
c.131T>C (p.Leu44Ser)
c.224T>C (p.Leu75Ser)
c.-56T>C (n.-56T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.124405539A>TCA378636656OATc.545T>A (p.Leu182Ter)
n.346T>A
n.391T>A
c.131T>A (p.Leu44Ter)
c.224T>A (p.Leu75Ter)
c.-56T>A (n.-56T>A)
10g.124405540A>CCA378636662OATc.544T>G (p.Leu182Val)
n.345T>G
n.390T>G
c.130T>G (p.Leu44Val)
c.223T>G (p.Leu75Val)
c.-57T>G (n.-57T>G)
10g.124405540A>GCA471763012OATc.544T>C (p.Leu182=)
n.345T>C
n.390T>C
c.130T>C (p.Leu44=)
c.223T>C (p.Leu75=)
c.-57T>C (n.-57T>C)
10g.124405540A>TCA378636663OATc.544T>A (p.Leu182Met)
n.345T>A
n.390T>A
c.130T>A (p.Leu44Met)
c.223T>A (p.Leu75Met)
c.-57T>A (n.-57T>A)
10g.124405541C>ACA471763013OATc.543G>T (p.Thr181=)
n.344G>T
n.389G>T
c.129G>T (p.Thr43=)
c.222G>T (p.Thr74=)
c.-58G>T (n.-58G>T)
 ClinVar
10g.124405541C=CA1942339101OATc.543G= (p.Thr181=)
n.344G=
n.389G=
c.129G= (p.Thr43=)
c.222G= (p.Thr74=)
c.-58G= (n.-58G=)
10g.124405541C>GCA471763014OATc.543G>C (p.Thr181=)
n.344G>C
n.389G>C
c.129G>C (p.Thr43=)
c.222G>C (p.Thr74=)
c.-58G>C (n.-58G>C)
 gnomAD v4
10g.124405541C>TCA5733500OATc.543G>A (p.Thr181=)
n.344G>A
n.389G>A
c.129G>A (p.Thr43=)
c.222G>A (p.Thr74=)
c.-58G>A (n.-58G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.124405542G>ACA144165OATc.542C>T (p.Thr181Met)
n.343C>T
n.388C>T
c.128C>T (p.Thr43Met)
c.221C>T (p.Thr74Met)
c.-59C>T (n.-59C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.124405542G>CCA378636666OATc.542C>G (p.Thr181Arg)
n.343C>G
n.388C>G
c.128C>G (p.Thr43Arg)
c.221C>G (p.Thr74Arg)
c.-59C>G (n.-59C>G)
10g.124405542G=CA1942339102OATc.542C= (p.Thr181=)
n.343C=
n.388C=
c.128C= (p.Thr43=)
c.221C= (p.Thr74=)
c.-59C= (n.-59C=)
10g.124405542G>TCA378636668OATc.542C>A (p.Thr181Lys)
n.343C>A
n.388C>A
c.128C>A (p.Thr43Lys)
c.221C>A (p.Thr74Lys)
c.-59C>A (n.-59C>A)
10g.124405543T>ACA378636671OATc.541A>T (p.Thr181Ser)
n.342A>T
n.387A>T
c.127A>T (p.Thr43Ser)
c.220A>T (p.Thr74Ser)
c.-60A>T (n.-60A>T)
10g.124405543T>CCA378636673OATc.541A>G (p.Thr181Ala)
n.342A>G
n.387A>G
c.127A>G (p.Thr43Ala)
c.220A>G (p.Thr74Ala)
c.-60A>G (n.-60A>G)
10g.124405543T>GCA378636675OATc.541A>C (p.Thr181Pro)
n.342A>C
n.387A>C
c.127A>C (p.Thr43Pro)
c.220A>C (p.Thr74Pro)
c.-60A>C (n.-60A>C)
10g.124405544C>ACA378636677OATc.540G>T (p.Arg180Ser)
n.341G>T
n.386G>T
c.126G>T (p.Arg42Ser)
c.219G>T (p.Arg73Ser)
c.-61G>T (n.-61G>T)
10g.124405544C>GCA378636679OATc.540G>C (p.Arg180Ser)
n.341G>C
n.386G>C
c.126G>C (p.Arg42Ser)
c.219G>C (p.Arg73Ser)
c.-61G>C (n.-61G>C)
10g.124405544C>TCA471763015OATc.540G>A (p.Arg180=)
n.341G>A
n.386G>A
c.126G>A (p.Arg42=)
c.219G>A (p.Arg73=)
c.-61G>A (n.-61G>A)
 gnomAD v4
10g.124405545C>ACA378636687OATc.539G>T (p.Arg180Met)
n.340G>T
n.385G>T
c.125G>T (p.Arg42Met)
c.218G>T (p.Arg73Met)
c.-62G>T (n.-62G>T)
10g.124405545C=CA1942339103OATc.539G= (p.Arg180=)
n.340G=
n.385G=
c.125G= (p.Arg42=)
c.218G= (p.Arg73=)
c.-62G= (n.-62G=)
10g.124405545C>GCA113931OATc.539G>C (p.Arg180Thr)
n.340G>C
n.385G>C
c.125G>C (p.Arg42Thr)
c.218G>C (p.Arg73Thr)
c.-62G>C (n.-62G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.124405545C>TCA378636684OATc.539G>A (p.Arg180Lys)
n.340G>A
n.385G>A
c.125G>A (p.Arg42Lys)
c.218G>A (p.Arg73Lys)
c.-62G>A (n.-62G>A)

Number of alleles fetched