Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.33320198C>ACA450110104DAXXc.1314G>T (p.Gly438=)
c.1278G>T (p.Gly426=)
c.1053G>T (p.Gly351=)
n.308G>T
n.390G>T
n.263G>T
c.174G>T (p.Gly58=)
6g.33320198C>GCA450110105DAXXc.1314G>C (p.Gly438=)
c.1278G>C (p.Gly426=)
c.1053G>C (p.Gly351=)
n.308G>C
n.390G>C
n.263G>C
c.174G>C (p.Gly58=)
6g.33320198C>TCA450110106DAXXc.1314G>A (p.Gly438=)
c.1278G>A (p.Gly426=)
c.1053G>A (p.Gly351=)
n.308G>A
n.390G>A
n.263G>A
c.174G>A (p.Gly58=)
dbSNP
6g.33320199C>ACA363655690DAXXc.1313G>T (p.Gly438Val)
c.1277G>T (p.Gly426Val)
c.1052G>T (p.Gly351Val)
n.307G>T
n.389G>T
n.262G>T
c.173G>T (p.Gly58Val)
6g.33320199C>GCA363655697DAXXc.1313G>C (p.Gly438Ala)
c.1277G>C (p.Gly426Ala)
c.1052G>C (p.Gly351Ala)
n.307G>C
n.389G>C
n.262G>C
c.173G>C (p.Gly58Ala)
6g.33320199C>TCA363655701DAXXc.1313G>A (p.Gly438Glu)
c.1277G>A (p.Gly426Glu)
c.1052G>A (p.Gly351Glu)
n.307G>A
n.389G>A
n.262G>A
c.173G>A (p.Gly58Glu)
6g.33320200C>ACA363655731DAXXc.1312G>T (p.Gly438Trp)
c.1276G>T (p.Gly426Trp)
c.1051G>T (p.Gly351Trp)
n.306G>T
n.388G>T
n.261G>T
c.172G>T (p.Gly58Trp)
6g.33320200C>GCA363655739DAXXc.1312G>C (p.Gly438Arg)
c.1276G>C (p.Gly426Arg)
c.1051G>C (p.Gly351Arg)
n.306G>C
n.388G>C
n.261G>C
c.172G>C (p.Gly58Arg)
6g.33320200C>TCA363655744DAXXc.1312G>A (p.Gly438Arg)
c.1276G>A (p.Gly426Arg)
c.1051G>A (p.Gly351Arg)
n.306G>A
n.388G>A
n.261G>A
c.172G>A (p.Gly58Arg)
6g.33320201C>ACA363655748DAXXc.1311G>T (p.Gln437His)
c.1275G>T (p.Gln425His)
c.1050G>T (p.Gln350His)
n.305G>T
n.387G>T
n.260G>T
c.171G>T (p.Gln57His)
6g.33320201C>GCA363655750DAXXc.1311G>C (p.Gln437His)
c.1275G>C (p.Gln425His)
c.1050G>C (p.Gln350His)
n.305G>C
n.387G>C
n.260G>C
c.171G>C (p.Gln57His)
dbSNP
6g.33320201C>TCA450110107DAXXc.1311G>A (p.Gln437=)
c.1275G>A (p.Gln425=)
c.1050G>A (p.Gln350=)
n.305G>A
n.387G>A
n.260G>A
c.171G>A (p.Gln57=)
6g.33320202T>ACA363655759DAXXc.1310A>T (p.Gln437Leu)
c.1274A>T (p.Gln425Leu)
c.1049A>T (p.Gln350Leu)
n.304A>T
n.386A>T
n.259A>T
c.170A>T (p.Gln57Leu)
6g.33320202T>CCA363655753DAXXc.1310A>G (p.Gln437Arg)
c.1274A>G (p.Gln425Arg)
c.1049A>G (p.Gln350Arg)
n.304A>G
n.386A>G
n.259A>G
c.170A>G (p.Gln57Arg)
6g.33320202T>GCA363655756DAXXc.1310A>C (p.Gln437Pro)
c.1274A>C (p.Gln425Pro)
c.1049A>C (p.Gln350Pro)
n.304A>C
n.386A>C
n.259A>C
c.170A>C (p.Gln57Pro)
6g.33320203G>ACA363655765DAXXc.1309C>T (p.Gln437Ter)
c.1273C>T (p.Gln425Ter)
c.1048C>T (p.Gln350Ter)
n.303C>T
n.385C>T
n.258C>T
c.169C>T (p.Gln57Ter)
6g.33320203G>CCA3756575DAXXc.1309C>G (p.Gln437Glu)
c.1273C>G (p.Gln425Glu)
c.1048C>G (p.Gln350Glu)
n.303C>G
n.385C>G
n.258C>G
c.169C>G (p.Gln57Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33320203G=CA1619962105DAXXc.1309C= (p.Gln437=)
c.1273C= (p.Gln425=)
c.1048C= (p.Gln350=)
n.303C=
n.385C=
n.258C=
c.169C= (p.Gln57=)
6g.33320203G>TCA363655773DAXXc.1309C>A (p.Gln437Lys)
c.1273C>A (p.Gln425Lys)
c.1048C>A (p.Gln350Lys)
n.303C>A
n.385C>A
n.258C>A
c.169C>A (p.Gln57Lys)
gnomAD v4
6g.33320204G>ACA450110108DAXXc.1308C>T (p.Ser436=)
c.1272C>T (p.Ser424=)
c.1047C>T (p.Ser349=)
n.302C>T
n.384C>T
n.257C>T
c.168C>T (p.Ser56=)
dbSNP gnomAD v3 gnomAD v4
6g.33320204G>CCA450110109DAXXc.1308C>G (p.Ser436=)
c.1272C>G (p.Ser424=)
c.1047C>G (p.Ser349=)
n.302C>G
n.384C>G
n.257C>G
c.168C>G (p.Ser56=)
6g.33320204G=CA1619962106DAXXc.1308C= (p.Ser436=)
c.1272C= (p.Ser424=)
c.1047C= (p.Ser349=)
n.302C=
n.384C=
n.257C=
c.168C= (p.Ser56=)
6g.33320204G>TCA450110110DAXXc.1308C>A (p.Ser436=)
c.1272C>A (p.Ser424=)
c.1047C>A (p.Ser349=)
n.302C>A
n.384C>A
n.257C>A
c.168C>A (p.Ser56=)
6g.33320205G>ACA363655777DAXXc.1307C>T (p.Ser436Phe)
c.1271C>T (p.Ser424Phe)
c.1046C>T (p.Ser349Phe)
n.301C>T
n.383C>T
n.256C>T
c.167C>T (p.Ser56Phe)
6g.33320205G>CCA363655794DAXXc.1307C>G (p.Ser436Cys)
c.1271C>G (p.Ser424Cys)
c.1046C>G (p.Ser349Cys)
n.301C>G
n.383C>G
n.256C>G
c.167C>G (p.Ser56Cys)
dbSNP
6g.33320205G>TCA363655795DAXXc.1307C>A (p.Ser436Tyr)
c.1271C>A (p.Ser424Tyr)
c.1046C>A (p.Ser349Tyr)
n.301C>A
n.383C>A
n.256C>A
c.167C>A (p.Ser56Tyr)
6g.33320206A>CCA363655797DAXXc.1306T>G (p.Ser436Ala)
c.1270T>G (p.Ser424Ala)
c.1045T>G (p.Ser349Ala)
n.300T>G
n.382T>G
n.255T>G
c.166T>G (p.Ser56Ala)
6g.33320206A>GCA363655800DAXXc.1306T>C (p.Ser436Pro)
c.1270T>C (p.Ser424Pro)
c.1045T>C (p.Ser349Pro)
n.300T>C
n.382T>C
n.255T>C
c.166T>C (p.Ser56Pro)
gnomAD v4
6g.33320206A>TCA363655803DAXXc.1306T>A (p.Ser436Thr)
c.1270T>A (p.Ser424Thr)
c.1045T>A (p.Ser349Thr)
n.300T>A
n.382T>A
n.255T>A
c.166T>A (p.Ser56Thr)
6g.33320207T>ACA450110111DAXXc.1305A>T (p.Ala435=)
c.1269A>T (p.Ala423=)
c.1044A>T (p.Ala348=)
n.299A>T
n.381A>T
n.254A>T
c.165A>T (p.Ala55=)
6g.33320207T>CCA450110112DAXXc.1305A>G (p.Ala435=)
c.1269A>G (p.Ala423=)
c.1044A>G (p.Ala348=)
n.299A>G
n.381A>G
n.254A>G
c.165A>G (p.Ala55=)
6g.33320207T>GCA450110113DAXXc.1305A>C (p.Ala435=)
c.1269A>C (p.Ala423=)
c.1044A>C (p.Ala348=)
n.299A>C
n.381A>C
n.254A>C
c.165A>C (p.Ala55=)
6g.33320208G>ACA363655808DAXXc.1304C>T (p.Ala435Val)
c.1268C>T (p.Ala423Val)
c.1043C>T (p.Ala348Val)
n.298C>T
n.380C>T
n.253C>T
c.164C>T (p.Ala55Val)
dbSNP gnomAD v4
6g.33320208G>CCA363655813DAXXc.1304C>G (p.Ala435Gly)
c.1268C>G (p.Ala423Gly)
c.1043C>G (p.Ala348Gly)
n.298C>G
n.380C>G
n.253C>G
c.164C>G (p.Ala55Gly)
6g.33320208G>TCA363655814DAXXc.1304C>A (p.Ala435Glu)
c.1268C>A (p.Ala423Glu)
c.1043C>A (p.Ala348Glu)
n.298C>A
n.380C>A
n.253C>A
c.164C>A (p.Ala55Glu)
6g.33320209C>ACA363655815DAXXc.1303G>T (p.Ala435Ser)
c.1267G>T (p.Ala423Ser)
c.1042G>T (p.Ala348Ser)
n.297G>T
n.379G>T
n.252G>T
c.163G>T (p.Ala55Ser)
6g.33320209C>GCA363655817DAXXc.1303G>C (p.Ala435Pro)
c.1267G>C (p.Ala423Pro)
c.1042G>C (p.Ala348Pro)
n.297G>C
n.379G>C
n.252G>C
c.163G>C (p.Ala55Pro)
6g.33320209C>TCA363655816DAXXc.1303G>A (p.Ala435Thr)
c.1267G>A (p.Ala423Thr)
c.1042G>A (p.Ala348Thr)
n.297G>A
n.379G>A
n.252G>A
c.163G>A (p.Ala55Thr)
dbSNP gnomAD v4
6g.33320210C>ACA363655819DAXXc.1302G>T (p.Met434Ile)
c.1266G>T (p.Met422Ile)
c.1041G>T (p.Met347Ile)
n.296G>T
n.378G>T
n.251G>T
c.162G>T (p.Met54Ile)
6g.33320210C>GCA363655820DAXXc.1302G>C (p.Met434Ile)
c.1266G>C (p.Met422Ile)
c.1041G>C (p.Met347Ile)
n.296G>C
n.378G>C
n.251G>C
c.162G>C (p.Met54Ile)
6g.33320210C>TCA363655823DAXXc.1302G>A (p.Met434Ile)
c.1266G>A (p.Met422Ile)
c.1041G>A (p.Met347Ile)
n.296G>A
n.378G>A
n.251G>A
c.162G>A (p.Met54Ile)
6g.33320211A=CA1619962107DAXXc.1301T= (p.Met434=)
c.1265T= (p.Met422=)
c.1040T= (p.Met347=)
n.295T=
n.377T=
n.250T=
c.161T= (p.Met54=)
6g.33320211A>CCA363655828DAXXc.1301T>G (p.Met434Arg)
c.1265T>G (p.Met422Arg)
c.1040T>G (p.Met347Arg)
n.295T>G
n.377T>G
n.250T>G
c.161T>G (p.Met54Arg)
dbSNP
6g.33320211A>GCA3756576DAXXc.1301T>C (p.Met434Thr)
c.1265T>C (p.Met422Thr)
c.1040T>C (p.Met347Thr)
n.295T>C
n.377T>C
n.250T>C
c.161T>C (p.Met54Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.33320211A>TCA363655834DAXXc.1301T>A (p.Met434Lys)
c.1265T>A (p.Met422Lys)
c.1040T>A (p.Met347Lys)
n.295T>A
n.377T>A
n.250T>A
c.161T>A (p.Met54Lys)
dbSNP
6g.33320212T>ACA363655839DAXXc.1300A>T (p.Met434Leu)
c.1264A>T (p.Met422Leu)
c.1039A>T (p.Met347Leu)
n.294A>T
n.376A>T
n.249A>T
c.160A>T (p.Met54Leu)
6g.33320212T>CCA3756577DAXXc.1300A>G (p.Met434Val)
c.1264A>G (p.Met422Val)
c.1039A>G (p.Met347Val)
n.294A>G
n.376A>G
n.249A>G
c.160A>G (p.Met54Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33320212T>GCA363655854DAXXc.1300A>C (p.Met434Leu)
c.1264A>C (p.Met422Leu)
c.1039A>C (p.Met347Leu)
n.294A>C
n.376A>C
n.249A>C
c.160A>C (p.Met54Leu)
6g.33320212T=CA1619962108DAXXc.1300A= (p.Met434=)
c.1264A= (p.Met422=)
c.1039A= (p.Met347=)
n.294A=
n.376A=
n.249A=
c.160A= (p.Met54=)
6g.33320213T>ACA450110114DAXXc.1299A>T (p.Gly433=)
c.1263A>T (p.Gly421=)
c.1038A>T (p.Gly346=)
n.293A>T
n.375A>T
n.248A>T
c.159A>T (p.Gly53=)

Number of alleles fetched