Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.19766600_19766682delCA2655314538TBX1c.1248_1330del (p.Ser417LeufsTer?)
c.1009+598_1009+680del (n.1009+598_1009+680del)
c.1221_1303del (p.Ser408LeufsTer?)
c.1371_1453del (p.Ser458LeufsTer?)
c.576_658del (p.Ser193LeufsTer?)
c.1159+598_1159+680del (n.1159+598_1159+680del)
 gnomAD v4
22g.19766641_19766678delCA2655306509TBX1c.1289_1326del (p.Ala430GlyfsTer?)
c.1009+639_1009+676del (n.1009+639_1009+676del)
c.1262_1299del (p.Ala421GlyfsTer?)
c.1412_1449del (p.Ala471GlyfsTer?)
c.617_654del (p.Ala206GlyfsTer?)
c.1159+639_1159+676del (n.1159+639_1159+676del)
 gnomAD v4
22g.19766641C>ACA410684846TBX1c.1289C>A (p.Ala430Asp)
c.1009+639C>A (n.1009+639C>A)
c.1262C>A (p.Ala421Asp)
c.1412C>A (p.Ala471Asp)
c.617C>A (p.Ala206Asp)
c.1159+639C>A (n.1159+639C>A)
 gnomAD v4
22g.19766641C>GCA410684847TBX1c.1289C>G (p.Ala430Gly)
c.1009+639C>G (n.1009+639C>G)
c.1262C>G (p.Ala421Gly)
c.1412C>G (p.Ala471Gly)
c.617C>G (p.Ala206Gly)
c.1159+639C>G (n.1159+639C>G)
 gnomAD v4
22g.19766641C>TCA410684849TBX1c.1289C>T (p.Ala430Val)
c.1009+639C>T (n.1009+639C>T)
c.1262C>T (p.Ala421Val)
c.1412C>T (p.Ala471Val)
c.617C>T (p.Ala206Val)
c.1159+639C>T (n.1159+639C>T)
 ClinVar gnomAD v4
22g.19766642C>ACA513687294TBX1c.1290C>A (p.Ala430=)
c.1009+640C>A (n.1009+640C>A)
c.1263C>A (p.Ala421=)
c.1413C>A (p.Ala471=)
c.618C>A (p.Ala206=)
c.1159+640C>A (n.1159+640C>A)
 gnomAD v4
22g.19766642C>GCA513687295TBX1c.1290C>G (p.Ala430=)
c.1009+640C>G (n.1009+640C>G)
c.1263C>G (p.Ala421=)
c.1413C>G (p.Ala471=)
c.618C>G (p.Ala206=)
c.1159+640C>G (n.1159+640C>G)
22g.19766642C>TCA513687296TBX1c.1290C>T (p.Ala430=)
c.1009+640C>T (n.1009+640C>T)
c.1263C>T (p.Ala421=)
c.1413C>T (p.Ala471=)
c.618C>T (p.Ala206=)
c.1159+640C>T (n.1159+640C>T)
 gnomAD v4
22g.19766643G>ACA410684851TBX1c.1291G>A (p.Ala431Thr)
c.1009+641G>A (n.1009+641G>A)
c.1264G>A (p.Ala422Thr)
c.1414G>A (p.Ala472Thr)
c.619G>A (p.Ala207Thr)
c.1159+641G>A (n.1159+641G>A)
 gnomAD v4
22g.19766643G>CCA410684858TBX1c.1291G>C (p.Ala431Pro)
c.1009+641G>C (n.1009+641G>C)
c.1264G>C (p.Ala422Pro)
c.1414G>C (p.Ala472Pro)
c.619G>C (p.Ala207Pro)
c.1159+641G>C (n.1159+641G>C)
 gnomAD v4
22g.19766643G>TCA410684853TBX1c.1291G>T (p.Ala431Ser)
c.1009+641G>T (n.1009+641G>T)
c.1264G>T (p.Ala422Ser)
c.1414G>T (p.Ala472Ser)
c.619G>T (p.Ala207Ser)
c.1159+641G>T (n.1159+641G>T)
 gnomAD v4
22g.19766644C>ACA410684860TBX1c.1292C>A (p.Ala431Asp)
c.1009+642C>A (n.1009+642C>A)
c.1265C>A (p.Ala422Asp)
c.1415C>A (p.Ala472Asp)
c.620C>A (p.Ala207Asp)
c.1159+642C>A (n.1159+642C>A)
 gnomAD v4
22g.19766644C=CA2396032438TBX1c.1292C= (p.Ala431=)
c.1009+642C= (n.1009+642C=)
c.1265C= (p.Ala422=)
c.1415C= (p.Ala472=)
c.620C= (p.Ala207=)
c.1159+642C= (n.1159+642C=)
22g.19766644C>GCA410684862TBX1c.1292C>G (p.Ala431Gly)
c.1009+642C>G (n.1009+642C>G)
c.1265C>G (p.Ala422Gly)
c.1415C>G (p.Ala472Gly)
c.620C>G (p.Ala207Gly)
c.1159+642C>G (n.1159+642C>G)
 gnomAD v4
22g.19766644C>TCA10102701TBX1c.1292C>T (p.Ala431Val)
c.1009+642C>T (n.1009+642C>T)
c.1265C>T (p.Ala422Val)
c.1415C>T (p.Ala472Val)
c.620C>T (p.Ala207Val)
c.1159+642C>T (n.1159+642C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19766645C>ACA513687298TBX1c.1293C>A (p.Ala431=)
c.1009+643C>A (n.1009+643C>A)
c.1266C>A (p.Ala422=)
c.1416C>A (p.Ala472=)
c.621C>A (p.Ala207=)
c.1159+643C>A (n.1159+643C>A)
22g.19766645C>GCA513687299TBX1c.1293C>G (p.Ala431=)
c.1009+643C>G (n.1009+643C>G)
c.1266C>G (p.Ala422=)
c.1416C>G (p.Ala472=)
c.621C>G (p.Ala207=)
c.1159+643C>G (n.1159+643C>G)
22g.19766645C>TCA513687300TBX1c.1293C>T (p.Ala431=)
c.1009+643C>T (n.1009+643C>T)
c.1266C>T (p.Ala422=)
c.1416C>T (p.Ala472=)
c.621C>T (p.Ala207=)
c.1159+643C>T (n.1159+643C>T)
 gnomAD v4
22g.19766646T>ACA410684866TBX1c.1294T>A (p.Tyr432Asn)
c.1009+644T>A (n.1009+644T>A)
c.1267T>A (p.Tyr423Asn)
c.1417T>A (p.Tyr473Asn)
c.622T>A (p.Tyr208Asn)
c.1159+644T>A (n.1159+644T>A)
22g.19766646T>CCA410684868TBX1c.1294T>C (p.Tyr432His)
c.1009+644T>C (n.1009+644T>C)
c.1267T>C (p.Tyr423His)
c.1417T>C (p.Tyr473His)
c.622T>C (p.Tyr208His)
c.1159+644T>C (n.1159+644T>C)
 gnomAD v4
22g.19766646T>GCA410684870TBX1c.1294T>G (p.Tyr432Asp)
c.1009+644T>G (n.1009+644T>G)
c.1267T>G (p.Tyr423Asp)
c.1417T>G (p.Tyr473Asp)
c.622T>G (p.Tyr208Asp)
c.1159+644T>G (n.1159+644T>G)
22g.19766647A=CA2396032439TBX1c.1295A= (p.Tyr432=)
c.1009+645A= (n.1009+645A=)
c.1268A= (p.Tyr423=)
c.1418A= (p.Tyr473=)
c.623A= (p.Tyr208=)
c.1159+645A= (n.1159+645A=)
22g.19766647A>CCA410684872TBX1c.1295A>C (p.Tyr432Ser)
c.1009+645A>C (n.1009+645A>C)
c.1268A>C (p.Tyr423Ser)
c.1418A>C (p.Tyr473Ser)
c.623A>C (p.Tyr208Ser)
c.1159+645A>C (n.1159+645A>C)
 gnomAD v4
22g.19766647A>GCA410684874TBX1c.1295A>G (p.Tyr432Cys)
c.1009+645A>G (n.1009+645A>G)
c.1268A>G (p.Tyr423Cys)
c.1418A>G (p.Tyr473Cys)
c.623A>G (p.Tyr208Cys)
c.1159+645A>G (n.1159+645A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.19766647A>TCA410684876TBX1c.1295A>T (p.Tyr432Phe)
c.1009+645A>T (n.1009+645A>T)
c.1268A>T (p.Tyr423Phe)
c.1418A>T (p.Tyr473Phe)
c.623A>T (p.Tyr208Phe)
c.1159+645A>T (n.1159+645A>T)
22g.19766648C>ACA410684878TBX1c.1296C>A (p.Tyr432Ter)
c.1009+646C>A (n.1009+646C>A)
c.1269C>A (p.Tyr423Ter)
c.1419C>A (p.Tyr473Ter)
c.624C>A (p.Tyr208Ter)
c.1159+646C>A (n.1159+646C>A)
 gnomAD v4
22g.19766648C=CA2396032440TBX1c.1296C= (p.Tyr432=)
c.1009+646C= (n.1009+646C=)
c.1269C= (p.Tyr423=)
c.1419C= (p.Tyr473=)
c.624C= (p.Tyr208=)
c.1159+646C= (n.1159+646C=)
22g.19766648C>GCA410684880TBX1c.1296C>G (p.Tyr432Ter)
c.1009+646C>G (n.1009+646C>G)
c.1269C>G (p.Tyr423Ter)
c.1419C>G (p.Tyr473Ter)
c.624C>G (p.Tyr208Ter)
c.1159+646C>G (n.1159+646C>G)
 ClinVar dbSNP
22g.19766648C>TCA513687304TBX1c.1296C>T (p.Tyr432=)
c.1009+646C>T (n.1009+646C>T)
c.1269C>T (p.Tyr423=)
c.1419C>T (p.Tyr473=)
c.624C>T (p.Tyr208=)
c.1159+646C>T (n.1159+646C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
22g.19766649G>ACA10102702TBX1c.1297G>A (p.Asp433Asn)
c.1009+647G>A (n.1009+647G>A)
c.1270G>A (p.Asp424Asn)
c.1420G>A (p.Asp474Asn)
c.625G>A (p.Asp209Asn)
c.1159+647G>A (n.1159+647G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19766649G>CCA410684881TBX1c.1297G>C (p.Asp433His)
c.1009+647G>C (n.1009+647G>C)
c.1270G>C (p.Asp424His)
c.1420G>C (p.Asp474His)
c.625G>C (p.Asp209His)
c.1159+647G>C (n.1159+647G>C)
22g.19766649G=CA2396032441TBX1c.1297G= (p.Asp433=)
c.1009+647G= (n.1009+647G=)
c.1270G= (p.Asp424=)
c.1420G= (p.Asp474=)
c.625G= (p.Asp209=)
c.1159+647G= (n.1159+647G=)
22g.19766649G>TCA410684883TBX1c.1297G>T (p.Asp433Tyr)
c.1009+647G>T (n.1009+647G>T)
c.1270G>T (p.Asp424Tyr)
c.1420G>T (p.Asp474Tyr)
c.625G>T (p.Asp209Tyr)
c.1159+647G>T (n.1159+647G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.19766650A>CCA410684885TBX1c.1298A>C (p.Asp433Ala)
c.1009+648A>C (n.1009+648A>C)
c.1271A>C (p.Asp424Ala)
c.1421A>C (p.Asp474Ala)
c.626A>C (p.Asp209Ala)
c.1159+648A>C (n.1159+648A>C)
22g.19766650A>GCA410684887TBX1c.1298A>G (p.Asp433Gly)
c.1009+648A>G (n.1009+648A>G)
c.1271A>G (p.Asp424Gly)
c.1421A>G (p.Asp474Gly)
c.626A>G (p.Asp209Gly)
c.1159+648A>G (n.1159+648A>G)
 gnomAD v4
22g.19766650A>TCA410684889TBX1c.1298A>T (p.Asp433Val)
c.1009+648A>T (n.1009+648A>T)
c.1271A>T (p.Asp424Val)
c.1421A>T (p.Asp474Val)
c.626A>T (p.Asp209Val)
c.1159+648A>T (n.1159+648A>T)
 gnomAD v4
22g.19766651C>ACA10102703TBX1c.1299C>A (p.Asp433Glu)
c.1009+649C>A (n.1009+649C>A)
c.1272C>A (p.Asp424Glu)
c.1422C>A (p.Asp474Glu)
c.627C>A (p.Asp209Glu)
c.1159+649C>A (n.1159+649C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.19766651C=CA2396032442TBX1c.1299C= (p.Asp433=)
c.1009+649C= (n.1009+649C=)
c.1272C= (p.Asp424=)
c.1422C= (p.Asp474=)
c.627C= (p.Asp209=)
c.1159+649C= (n.1159+649C=)
22g.19766651C>GCA410684891TBX1c.1299C>G (p.Asp433Glu)
c.1009+649C>G (n.1009+649C>G)
c.1272C>G (p.Asp424Glu)
c.1422C>G (p.Asp474Glu)
c.627C>G (p.Asp209Glu)
c.1159+649C>G (n.1159+649C>G)
22g.19766651C>TCA513687306TBX1c.1299C>T (p.Asp433=)
c.1009+649C>T (n.1009+649C>T)
c.1272C>T (p.Asp424=)
c.1422C>T (p.Asp474=)
c.627C>T (p.Asp209=)
c.1159+649C>T (n.1159+649C>T)
 gnomAD v4
22g.19766652delCA2655306512TBX1c.1300del (p.His434ThrfsTer?)
c.1009+650del (n.1009+650del)
c.1273del (p.His425ThrfsTer?)
c.1423del (p.His475ThrfsTer?)
c.628del (p.His210ThrfsTer?)
c.1159+650del (n.1159+650del)
 gnomAD v4
22g.19766652C>ACA410684892TBX1c.1300C>A (p.His434Asn)
c.1009+650C>A (n.1009+650C>A)
c.1273C>A (p.His425Asn)
c.1423C>A (p.His475Asn)
c.628C>A (p.His210Asn)
c.1159+650C>A (n.1159+650C>A)
 gnomAD v4
22g.19766652C>GCA410684894TBX1c.1300C>G (p.His434Asp)
c.1009+650C>G (n.1009+650C>G)
c.1273C>G (p.His425Asp)
c.1423C>G (p.His475Asp)
c.628C>G (p.His210Asp)
c.1159+650C>G (n.1159+650C>G)
22g.19766652C>TCA410684896TBX1c.1300C>T (p.His434Tyr)
c.1009+650C>T (n.1009+650C>T)
c.1273C>T (p.His425Tyr)
c.1423C>T (p.His475Tyr)
c.628C>T (p.His210Tyr)
c.1159+650C>T (n.1159+650C>T)
 gnomAD v4
22g.19766652_19766655delinsCACTCA2396032443TBX1c.1300_1303delinsCACT (p.His434=)
c.1009+650_1009+653delinsCACT (n.1009+650_1009+653delinsCACT)
c.1273_1276delinsCACT (p.His425=)
c.1423_1426delinsCACT (p.His475=)
c.628_631delinsCACT (p.His210=)
c.1159+650_1159+653delinsCACT (n.1159+650_1159+653delinsCACT)
22g.19766653_19766660delCA2695230378TBX1c.1301_1308del (p.His434ArgfsTer?)
c.1009+651_1009+658del (n.1009+651_1009+658del)
c.1274_1281del (p.His425ArgfsTer?)
c.1424_1431del (p.His475ArgfsTer?)
c.629_636del (p.His210ArgfsTer?)
c.1159+651_1159+658del (n.1159+651_1159+658del)
22g.19766653A=CA2396032444TBX1c.1301A= (p.His434=)
c.1009+651A= (n.1009+651A=)
c.1274A= (p.His425=)
c.1424A= (p.His475=)
c.629A= (p.His210=)
c.1159+651A= (n.1159+651A=)
22g.19766653A>CCA410684898TBX1c.1301A>C (p.His434Pro)
c.1009+651A>C (n.1009+651A>C)
c.1274A>C (p.His425Pro)
c.1424A>C (p.His475Pro)
c.629A>C (p.His210Pro)
c.1159+651A>C (n.1159+651A>C)
 ClinVar dbSNP
22g.19766653A>GCA10102704TBX1c.1301A>G (p.His434Arg)
c.1009+651A>G (n.1009+651A>G)
c.1274A>G (p.His425Arg)
c.1424A>G (p.His475Arg)
c.629A>G (p.His210Arg)
c.1159+651A>G (n.1159+651A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19766653A>TCA410684902TBX1c.1301A>T (p.His434Leu)
c.1009+651A>T (n.1009+651A>T)
c.1274A>T (p.His425Leu)
c.1424A>T (p.His475Leu)
c.629A>T (p.His210Leu)
c.1159+651A>T (n.1159+651A>T)
 gnomAD v4

Number of alleles fetched