Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.133766276A>CCA354608507TFc.1331-2A>C (n.1331-2A>C)
c.1199-2A>C (n.1199-2A>C)
c.950-2A>C (n.950-2A>C)
3g.133766276A>GCA354608508TFc.1331-2A>G (n.1331-2A>G)
c.1199-2A>G (n.1199-2A>G)
c.950-2A>G (n.950-2A>G)
3g.133766276A>TCA354608509TFc.1331-2A>T (n.1331-2A>T)
c.1199-2A>T (n.1199-2A>T)
c.950-2A>T (n.950-2A>T)
3g.133766277G>ACA354608510TFc.1331-1G>A (n.1331-1G>A)
c.1199-1G>A (n.1199-1G>A)
c.950-1G>A (n.950-1G>A)
3g.133766277G>CCA354608511TFc.1331-1G>C (n.1331-1G>C)
c.1199-1G>C (n.1199-1G>C)
c.950-1G>C (n.950-1G>C)
3g.133766277G>TCA354608512TFc.1331-1G>T (n.1331-1G>T)
c.1199-1G>T (n.1199-1G>T)
c.950-1G>T (n.950-1G>T)
3g.133766278G>ACA354608513TFc.1331G>A (p.Gly444Glu)
c.1G>A
c.1199G>A (p.Gly400Glu)
c.950G>A (p.Gly317Glu)
3g.133766278G>CCA354608514TFc.1331G>C (p.Gly444Ala)
c.1G>C
c.1199G>C (p.Gly400Ala)
c.950G>C (p.Gly317Ala)
3g.133766278G>TCA354608515TFc.1331G>T (p.Gly444Val)
c.1G>T
c.1199G>T (p.Gly400Val)
c.950G>T (p.Gly317Val)
3g.133766279G>ACA435815576TFc.1332G>A (p.Gly444=)
c.2G>A
c.1200G>A (p.Gly400=)
c.951G>A (p.Gly317=)
3g.133766279G>CCA435815577TFc.1332G>C (p.Gly444=)
c.2G>C
c.1200G>C (p.Gly400=)
c.951G>C (p.Gly317=)
3g.133766279G>TCA435815578TFc.1332G>T (p.Gly444=)
c.2G>T
c.1200G>T (p.Gly400=)
c.951G>T (p.Gly317=)
3g.133766280T>ACA354608516TFc.1333T>A (p.Tyr445Asn)
c.3T>A
c.1201T>A (p.Tyr401Asn)
c.952T>A (p.Tyr318Asn)
3g.133766280T>CCA2625285TFc.1333T>C (p.Tyr445His)
c.3T>C
c.1201T>C (p.Tyr401His)
c.952T>C (p.Tyr318His)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133766280T>GCA354608517TFc.1333T>G (p.Tyr445Asp)
c.3T>G
c.1201T>G (p.Tyr401Asp)
c.952T>G (p.Tyr318Asp)
3g.133766280T=CA1403119303TFc.1333T= (p.Tyr445=)
c.3T=
c.1201T= (p.Tyr401=)
c.952T= (p.Tyr318=)
3g.133766281A=CA1403119308TFc.1334A= (p.Tyr445=)
c.4A=
c.1202A= (p.Tyr401=)
c.953A= (p.Tyr318=)
3g.133766281A>CCA354608519TFc.1334A>C (p.Tyr445Ser)
c.4A>C
c.1202A>C (p.Tyr401Ser)
c.953A>C (p.Tyr318Ser)
3g.133766281A>GCA83685493TFc.1334A>G (p.Tyr445Cys)
c.4A>G
c.1202A>G (p.Tyr401Cys)
c.953A>G (p.Tyr318Cys)
 dbSNP gnomAD v2 gnomAD v4
3g.133766281A>TCA354608518TFc.1334A>T (p.Tyr445Phe)
c.4A>T
c.1202A>T (p.Tyr401Phe)
c.953A>T (p.Tyr318Phe)
3g.133766282T>ACA354608520TFc.1335T>A (p.Tyr445Ter)
c.5T>A
c.1203T>A (p.Tyr401Ter)
c.954T>A (p.Tyr318Ter)
3g.133766282T>CCA435815579TFc.1335T>C (p.Tyr445=)
c.5T>C
c.1203T>C (p.Tyr401=)
c.954T>C (p.Tyr318=)
3g.133766282T>GCA354608521TFc.1335T>G (p.Tyr445Ter)
c.5T>G
c.1203T>G (p.Tyr401Ter)
c.954T>G (p.Tyr318Ter)
3g.133766283T>ACA354608522TFc.1336T>A (p.Phe446Ile)
c.6T>A
c.1204T>A (p.Phe402Ile)
c.955T>A (p.Phe319Ile)
 dbSNP gnomAD v4
3g.133766283T>CCA354608523TFc.1336T>C (p.Phe446Leu)
c.6T>C
c.1204T>C (p.Phe402Leu)
c.955T>C (p.Phe319Leu)
3g.133766283T>GCA354608524TFc.1336T>G (p.Phe446Val)
c.6T>G
c.1204T>G (p.Phe402Val)
c.955T>G (p.Phe319Val)
3g.133766283T=CA1403119312TFc.1336T= (p.Phe446=)
c.6T=
c.1204T= (p.Phe402=)
c.955T= (p.Phe319=)
3g.133766284T>ACA83685498TFc.1337T>A (p.Phe446Tyr)
c.7T>A
c.1205T>A (p.Phe402Tyr)
c.956T>A (p.Phe319Tyr)
 dbSNP
3g.133766284T>CCA354608525TFc.1337T>C (p.Phe446Ser)
c.7T>C
c.1205T>C (p.Phe402Ser)
c.956T>C (p.Phe319Ser)
3g.133766284T>GCA354608526TFc.1337T>G (p.Phe446Cys)
c.7T>G
c.1205T>G (p.Phe402Cys)
c.956T>G (p.Phe319Cys)
3g.133766284T=CA1403119315TFc.1337T= (p.Phe446=)
c.7T=
c.1205T= (p.Phe402=)
c.956T= (p.Phe319=)
3g.133766285T>ACA354608527TFc.1338T>A (p.Phe446Leu)
c.8T>A
c.1206T>A (p.Phe402Leu)
c.957T>A (p.Phe319Leu)
3g.133766285T>CCA435815580TFc.1338T>C (p.Phe446=)
c.8T>C
c.1206T>C (p.Phe402=)
c.957T>C (p.Phe319=)
3g.133766285T>GCA354608528TFc.1338T>G (p.Phe446Leu)
c.8T>G
c.1206T>G (p.Phe402Leu)
c.957T>G (p.Phe319Leu)
3g.133766286G>ACA354608529TFc.1339G>A (p.Ala447Thr)
c.9G>A
c.1207G>A (p.Ala403Thr)
c.958G>A (p.Ala320Thr)
3g.133766286G>CCA354608530TFc.1339G>C (p.Ala447Pro)
c.9G>C
c.1207G>C (p.Ala403Pro)
c.958G>C (p.Ala320Pro)
3g.133766286G>TCA354608531TFc.1339G>T (p.Ala447Ser)
c.9G>T
c.1207G>T (p.Ala403Ser)
c.958G>T (p.Ala320Ser)
 COSMIC
3g.133766287C>ACA354608532TFc.1340C>A (p.Ala447Asp)
c.10C>A
c.1208C>A (p.Ala403Asp)
c.959C>A (p.Ala320Asp)
3g.133766287C>GCA354608534TFc.1340C>G (p.Ala447Gly)
c.10C>G
c.1208C>G (p.Ala403Gly)
c.959C>G (p.Ala320Gly)
3g.133766287C>TCA354608533TFc.1340C>T (p.Ala447Val)
c.10C>T
c.1208C>T (p.Ala403Val)
c.959C>T (p.Ala320Val)
 gnomAD v4
3g.133766288T>ACA435815581TFc.1341T>A (p.Ala447=)
c.11T>A
c.1209T>A (p.Ala403=)
c.960T>A (p.Ala320=)
3g.133766288T>CCA435815582TFc.1341T>C (p.Ala447=)
c.11T>C
c.1209T>C (p.Ala403=)
c.960T>C (p.Ala320=)
3g.133766288T>GCA435815583TFc.1341T>G (p.Ala447=)
c.11T>G
c.1209T>G (p.Ala403=)
c.960T>G (p.Ala320=)
3g.133766289A=CA1403119316TFc.1342A= (p.Ile448=)
c.12A=
c.1210A= (p.Ile404=)
c.961A= (p.Ile321=)
3g.133766289A>CCA354608535TFc.1342A>C (p.Ile448Leu)
c.12A>C
c.1210A>C (p.Ile404Leu)
c.961A>C (p.Ile321Leu)
 dbSNP
3g.133766289A>GCA2625286TFc.1342A>G (p.Ile448Val)
c.12A>G
c.1210A>G (p.Ile404Val)
c.961A>G (p.Ile321Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133766289A>TCA354608536TFc.1342A>T (p.Ile448Leu)
c.12A>T
c.1210A>T (p.Ile404Leu)
c.961A>T (p.Ile321Leu)
3g.133766290T>ACA354608537TFc.1343T>A (p.Ile448Lys)
c.13T>A
c.1343T>A (p.Val448Glu)
c.1211T>A (p.Val404Glu)
c.962T>A (p.Val321Glu)
c.1211T>A (p.Ile404Lys)
c.962T>A (p.Ile321Lys)
3g.133766290T>CCA354608539TFc.1343T>C (p.Ile448Thr)
c.13T>C
c.1343T>C (p.Val448Ala)
c.1211T>C (p.Val404Ala)
c.962T>C (p.Val321Ala)
c.1211T>C (p.Ile404Thr)
c.962T>C (p.Ile321Thr)
3g.133766290T>GCA354608538TFc.1343T>G (p.Ile448Arg)
c.13T>G
c.1343T>G (p.Val448Gly)
c.1211T>G (p.Val404Gly)
c.962T>G (p.Val321Gly)
c.1211T>G (p.Ile404Arg)
c.962T>G (p.Ile321Arg)
3g.133766291A>CCA435815585TFc.1344A>C (p.Ile448=)
c.14A>C
c.1344A>C (p.Val448=)
c.1212A>C (p.Val404=)
c.963A>C (p.Val321=)
c.1212A>C (p.Ile404=)
c.963A>C (p.Ile321=)
3g.133766291A>GCA354608540TFc.1344A>G (p.Ile448Met)
c.14A>G
c.1344A>G (p.Val448=)
c.1212A>G (p.Val404=)
c.963A>G (p.Val321=)
c.1212A>G (p.Ile404Met)
c.963A>G (p.Ile321Met)
 gnomAD v4
3g.133766291A>TCA435815584TFc.1344A>T (p.Ile448=)
c.14A>T
c.1344A>T (p.Val448=)
c.1212A>T (p.Val404=)
c.963A>T (p.Val321=)
c.1212A>T (p.Ile404=)
c.963A>T (p.Ile321=)
3g.133766292G>ACA354608541TFc.1345G>A (p.Ala449Thr)
c.15G>A
c.1213G>A (p.Ala405Thr)
c.964G>A (p.Ala322Thr)
 dbSNP
3g.133766292G>CCA354608542TFc.1345G>C (p.Ala449Pro)
c.15G>C
c.1213G>C (p.Ala405Pro)
c.964G>C (p.Ala322Pro)
 dbSNP gnomAD v4
3g.133766292G=CA1403119318TFc.1345G= (p.Ala449=)
c.15G=
c.1213G= (p.Ala405=)
c.964G= (p.Ala322=)
3g.133766292G>TCA354608543TFc.1345G>T (p.Ala449Ser)
c.15G>T
c.1213G>T (p.Ala405Ser)
c.964G>T (p.Ala322Ser)
3g.133766293C>ACA354608544TFc.1346C>A (p.Ala449Glu)
c.16C>A
c.1214C>A (p.Ala405Glu)
c.965C>A (p.Ala322Glu)
3g.133766293C>GCA354608545TFc.1346C>G (p.Ala449Gly)
c.16C>G
c.1214C>G (p.Ala405Gly)
c.965C>G (p.Ala322Gly)
3g.133766293C>TCA354608546TFc.1346C>T (p.Ala449Val)
c.16C>T
c.1214C>T (p.Ala405Val)
c.965C>T (p.Ala322Val)
3g.133766294A>CCA435815586TFc.1347A>C (p.Ala449=)
c.17A>C
c.1215A>C (p.Ala405=)
c.966A>C (p.Ala322=)
3g.133766294A>GCA435815587TFc.1347A>G (p.Ala449=)
c.17A>G
c.1215A>G (p.Ala405=)
c.966A>G (p.Ala322=)
3g.133766294A>TCA435815588TFc.1347A>T (p.Ala449=)
c.17A>T
c.1215A>T (p.Ala405=)
c.966A>T (p.Ala322=)
3g.133766295G>ACA354608547TFc.1348G>A (p.Val450Met)
c.18G>A
c.1216G>A (p.Val406Met)
c.967G>A (p.Val323Met)
3g.133766295G>CCA354608549TFc.1348G>C (p.Val450Leu)
c.18G>C
c.1216G>C (p.Val406Leu)
c.967G>C (p.Val323Leu)
3g.133766295G>TCA354608548TFc.1348G>T (p.Val450Leu)
c.18G>T
c.1216G>T (p.Val406Leu)
c.967G>T (p.Val323Leu)
3g.133766296T>ACA354608550TFc.1349T>A (p.Val450Glu)
c.19T>A
c.1217T>A (p.Val406Glu)
c.968T>A (p.Val323Glu)
3g.133766296T>CCA354608551TFc.1349T>C (p.Val450Ala)
c.19T>C
c.1217T>C (p.Val406Ala)
c.968T>C (p.Val323Ala)
 dbSNP
3g.133766296T>GCA354608552TFc.1349T>G (p.Val450Gly)
c.19T>G
c.1217T>G (p.Val406Gly)
c.968T>G (p.Val323Gly)
3g.133766296T=CA1403119319TFc.1349T= (p.Val450=)
c.19T=
c.1217T= (p.Val406=)
c.968T= (p.Val323=)
3g.133766297G>ACA2625287TFc.1350G>A (p.Val450=)
c.20G>A
c.1218G>A (p.Val406=)
c.969G>A (p.Val323=)
 ClinVar dbSNP ExAC gnomAD v2
3g.133766297G>CCA435815589TFc.1350G>C (p.Val450=)
c.20G>C
c.1218G>C (p.Val406=)
c.969G>C (p.Val323=)
3g.133766297G=CA1403119322TFc.1350G= (p.Val450=)
c.20G=
c.1218G= (p.Val406=)
c.969G= (p.Val323=)
3g.133766297G>TCA435815590TFc.1350G>T (p.Val450=)
c.20G>T
c.1218G>T (p.Val406=)
c.969G>T (p.Val323=)
3g.133766298G>ACA2625288TFc.1351G>A (p.Val451Met)
c.21G>A
c.1219G>A (p.Val407Met)
c.970G>A (p.Val324Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133766298G>CCA354608554TFc.1351G>C (p.Val451Leu)
c.21G>C
c.1219G>C (p.Val407Leu)
c.970G>C (p.Val324Leu)
3g.133766298G=CA1403119325TFc.1351G= (p.Val451=)
c.21G=
c.1219G= (p.Val407=)
c.970G= (p.Val324=)
3g.133766298G>TCA354608553TFc.1351G>T (p.Val451Leu)
c.21G>T
c.1219G>T (p.Val407Leu)
c.970G>T (p.Val324Leu)
 dbSNP
3g.133766299T>ACA354608555TFc.1352T>A (p.Val451Glu)
c.22T>A
c.1220T>A (p.Val407Glu)
c.971T>A (p.Val324Glu)
3g.133766299T>CCA2625289TFc.1352T>C (p.Val451Ala)
c.22T>C
c.1220T>C (p.Val407Ala)
c.971T>C (p.Val324Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133766299T>GCA354608556TFc.1352T>G (p.Val451Gly)
c.22T>G
c.1220T>G (p.Val407Gly)
c.971T>G (p.Val324Gly)
3g.133766299T=CA1403119329TFc.1352T= (p.Val451=)
c.22T=
c.1220T= (p.Val407=)
c.971T= (p.Val324=)
3g.133766300G>ACA435815591TFc.1353G>A (p.Val451=)
c.23G>A
c.1221G>A (p.Val407=)
c.972G>A (p.Val324=)
3g.133766300G>CCA435815592TFc.1353G>C (p.Val451=)
c.23G>C
c.1221G>C (p.Val407=)
c.972G>C (p.Val324=)
3g.133766300G>TCA435815593TFc.1353G>T (p.Val451=)
c.23G>T
c.1221G>T (p.Val407=)
c.972G>T (p.Val324=)
3g.133766301A>CCA354608557TFc.1354A>C (p.Lys452Gln)
c.24A>C
c.1222A>C (p.Lys408Gln)
c.973A>C (p.Lys325Gln)
3g.133766301A>GCA354608558TFc.1354A>G (p.Lys452Glu)
c.24A>G
c.1222A>G (p.Lys408Glu)
c.973A>G (p.Lys325Glu)
3g.133766301A>TCA354608559TFc.1354A>T (p.Lys452Ter)
c.24A>T
c.1222A>T (p.Lys408Ter)
c.973A>T (p.Lys325Ter)
3g.133766302_133766306delCA2577907327TFc.1355_1359del (p.Lys452IlefsTer4)
c.25_29del
c.1223_1227del (p.Lys408IlefsTer4)
c.974_978del (p.Lys325IlefsTer4)
3g.133766302A>CCA354608560TFc.1355A>C (p.Lys452Thr)
c.25A>C
c.1223A>C (p.Lys408Thr)
c.974A>C (p.Lys325Thr)
3g.133766302A>GCA354608561TFc.1355A>G (p.Lys452Arg)
c.25A>G
c.1223A>G (p.Lys408Arg)
c.974A>G (p.Lys325Arg)
3g.133766302A>TCA354608562TFc.1355A>T (p.Lys452Met)
c.25A>T
c.1223A>T (p.Lys408Met)
c.974A>T (p.Lys325Met)
3g.133766303G>ACA435815594TFc.1356G>A (p.Lys452=)
c.26G>A
c.1224G>A (p.Lys408=)
c.975G>A (p.Lys325=)
3g.133766303G>CCA354608563TFc.1356G>C (p.Lys452Asn)
c.26G>C
c.1224G>C (p.Lys408Asn)
c.975G>C (p.Lys325Asn)
3g.133766303G>TCA354608564TFc.1356G>T (p.Lys452Asn)
c.26G>T
c.1224G>T (p.Lys408Asn)
c.975G>T (p.Lys325Asn)
 gnomAD v4 COSMIC
3g.133766304A>CCA354608565TFc.1357A>C (p.Lys453Gln)
c.27A>C
c.1225A>C (p.Lys409Gln)
c.976A>C (p.Lys326Gln)
 gnomAD v4
3g.133766304A>GCA354608567TFc.1357A>G (p.Lys453Glu)
c.27A>G
c.1225A>G (p.Lys409Glu)
c.976A>G (p.Lys326Glu)
3g.133766304A>TCA354608566TFc.1357A>T (p.Lys453Ter)
c.27A>T
c.1225A>T (p.Lys409Ter)
c.976A>T (p.Lys326Ter)
 COSMIC
3g.133766305A>CCA354608568TFc.1358A>C (p.Lys453Thr)
c.28A>C
c.1226A>C (p.Lys409Thr)
c.977A>C (p.Lys326Thr)
3g.133766305A>GCA354608569TFc.1358A>G (p.Lys453Arg)
c.28A>G
c.1226A>G (p.Lys409Arg)
c.977A>G (p.Lys326Arg)
3g.133766305A>TCA354608570TFc.1358A>T (p.Lys453Ile)
c.28A>T
c.1226A>T (p.Lys409Ile)
c.977A>T (p.Lys326Ile)
3g.133766306A=CA1403119336TFc.1359A= (p.Lys453=)
c.29A=
c.1227A= (p.Lys409=)
c.978A= (p.Lys326=)
3g.133766306A>CCA354608571TFc.1359A>C (p.Lys453Asn)
c.29A>C
c.1227A>C (p.Lys409Asn)
c.978A>C (p.Lys326Asn)
3g.133766306A>GCA435815595TFc.1359A>G (p.Lys453=)
c.29A>G
c.1227A>G (p.Lys409=)
c.978A>G (p.Lys326=)
 dbSNP gnomAD v4
3g.133766306A>TCA354608572TFc.1359A>T (p.Lys453Asn)
c.29A>T
c.1227A>T (p.Lys409Asn)
c.978A>T (p.Lys326Asn)
3g.133766307T>ACA354608573TFc.1360T>A (p.Ser454Thr)
c.30T>A
c.1228T>A (p.Ser410Thr)
c.979T>A (p.Ser327Thr)
 gnomAD v4
3g.133766307T>CCA354608574TFc.1360T>C (p.Ser454Pro)
c.30T>C
c.1228T>C (p.Ser410Pro)
c.979T>C (p.Ser327Pro)
3g.133766307T>GCA354608575TFc.1360T>G (p.Ser454Ala)
c.30T>G
c.1228T>G (p.Ser410Ala)
c.979T>G (p.Ser327Ala)
 COSMIC
3g.133766308C>ACA354608576TFc.1361C>A (p.Ser454Ter)
c.31C>A
c.1229C>A (p.Ser410Ter)
c.980C>A (p.Ser327Ter)
 gnomAD v4
3g.133766308C>GCA354608577TFc.1361C>G (p.Ser454Ter)
c.31C>G
c.1229C>G (p.Ser410Ter)
c.980C>G (p.Ser327Ter)
3g.133766308C>TCA354608578TFc.1361C>T (p.Ser454Leu)
c.31C>T
c.1229C>T (p.Ser410Leu)
c.980C>T (p.Ser327Leu)
3g.133766309A>CCA435815596TFc.1362A>C (p.Ser454=)
c.32A>C
c.1230A>C (p.Ser410=)
c.981A>C (p.Ser327=)
3g.133766309A>GCA435815597TFc.1362A>G (p.Ser454=)
c.32A>G
c.1230A>G (p.Ser410=)
c.981A>G (p.Ser327=)
 gnomAD v4
3g.133766309A>TCA435815598TFc.1362A>T (p.Ser454=)
c.32A>T
c.1230A>T (p.Ser410=)
c.981A>T (p.Ser327=)
3g.133766310G>ACA354608580TFc.1363G>A (p.Ala455Thr)
c.33G>A
c.1231G>A (p.Ala411Thr)
c.982G>A (p.Ala328Thr)
3g.133766310G>CCA354608579TFc.1363G>C (p.Ala455Pro)
c.33G>C
c.1231G>C (p.Ala411Pro)
c.982G>C (p.Ala328Pro)
 dbSNP gnomAD v2 gnomAD v4
3g.133766310G=CA1403119342TFc.1363G= (p.Ala455=)
c.33G=
c.1231G= (p.Ala411=)
c.982G= (p.Ala328=)
3g.133766310G>TCA83685535TFc.1363G>T (p.Ala455Ser)
c.33G>T
c.1231G>T (p.Ala411Ser)
c.982G>T (p.Ala328Ser)
 dbSNP gnomAD v4 COSMIC
3g.133766311C>ACA354608581TFc.1364C>A (p.Ala455Asp)
c.34C>A
c.1232C>A (p.Ala411Asp)
c.983C>A (p.Ala328Asp)
3g.133766311C=CA1403119345TFc.1364C= (p.Ala455=)
c.34C=
c.1232C= (p.Ala411=)
c.983C= (p.Ala328=)
3g.133766311C>GCA354608582TFc.1364C>G (p.Ala455Gly)
c.34C>G
c.1232C>G (p.Ala411Gly)
c.983C>G (p.Ala328Gly)
3g.133766311C>TCA2625290TFc.1364C>T (p.Ala455Val)
c.34C>T
c.1232C>T (p.Ala411Val)
c.983C>T (p.Ala328Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133766312T>ACA435815599TFc.1365T>A (p.Ala455=)
c.35T>A
c.1233T>A (p.Ala411=)
c.984T>A (p.Ala328=)
3g.133766312T>CCA435815601TFc.1365T>C (p.Ala455=)
c.35T>C
c.1233T>C (p.Ala411=)
c.984T>C (p.Ala328=)
3g.133766312T>GCA435815600TFc.1365T>G (p.Ala455=)
c.35T>G
c.1233T>G (p.Ala411=)
c.984T>G (p.Ala328=)
3g.133766313T>ACA354608583TFc.1366T>A (p.Ser456Thr)
c.36T>A
c.1234T>A (p.Ser412Thr)
c.985T>A (p.Ser329Thr)
3g.133766313T>CCA354608584TFc.1366T>C (p.Ser456Pro)
c.36T>C
c.1234T>C (p.Ser412Pro)
c.985T>C (p.Ser329Pro)
3g.133766313T>GCA354608585TFc.1366T>G (p.Ser456Ala)
c.36T>G
c.1234T>G (p.Ser412Ala)
c.985T>G (p.Ser329Ala)
3g.133766314C>ACA354608586TFc.1367C>A (p.Ser456Tyr)
c.37C>A
c.1235C>A (p.Ser412Tyr)
c.986C>A (p.Ser329Tyr)
3g.133766314C>GCA354608587TFc.1367C>G (p.Ser456Cys)
c.37C>G
c.1235C>G (p.Ser412Cys)
c.986C>G (p.Ser329Cys)
3g.133766314C>TCA354608588TFc.1367C>T (p.Ser456Phe)
c.37C>T
c.1235C>T (p.Ser412Phe)
c.986C>T (p.Ser329Phe)
3g.133766315T>ACA435815602TFc.1368T>A (p.Ser456=)
c.38T>A
c.1236T>A (p.Ser412=)
c.987T>A (p.Ser329=)
3g.133766315T>CCA435815603TFc.1368T>C (p.Ser456=)
c.38T>C
c.1236T>C (p.Ser412=)
c.987T>C (p.Ser329=)
3g.133766315T>GCA435815604TFc.1368T>G (p.Ser456=)
c.38T>G
c.1236T>G (p.Ser412=)
c.987T>G (p.Ser329=)
3g.133766316G>ACA354608589TFc.1369G>A (p.Asp457Asn)
c.39G>A
c.1237G>A (p.Asp413Asn)
c.988G>A (p.Asp330Asn)
3g.133766316G>CCA354608590TFc.1369G>C (p.Asp457His)
c.39G>C
c.1237G>C (p.Asp413His)
c.988G>C (p.Asp330His)
3g.133766316G>TCA354608591TFc.1369G>T (p.Asp457Tyr)
c.39G>T
c.1237G>T (p.Asp413Tyr)
c.988G>T (p.Asp330Tyr)
 gnomAD v4
3g.133766317A=CA1403119349TFc.1370A= (p.Asp457=)
c.40A=
c.1238A= (p.Asp413=)
c.989A= (p.Asp330=)
3g.133766317A>CCA354608594TFc.1370A>C (p.Asp457Ala)
c.40A>C
c.1238A>C (p.Asp413Ala)
c.989A>C (p.Asp330Ala)
 dbSNP
3g.133766317A>GCA354608593TFc.1370A>G (p.Asp457Gly)
c.40A>G
c.1238A>G (p.Asp413Gly)
c.989A>G (p.Asp330Gly)
3g.133766317A>TCA354608592TFc.1370A>T (p.Asp457Val)
c.40A>T
c.1238A>T (p.Asp413Val)
c.989A>T (p.Asp330Val)
3g.133766318C>ACA2625291TFc.1371C>A (p.Asp457Glu)
c.41C>A
c.1239C>A (p.Asp413Glu)
c.990C>A (p.Asp330Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133766318C=CA1403119352TFc.1371C= (p.Asp457=)
c.41C=
c.1239C= (p.Asp413=)
c.990C= (p.Asp330=)
3g.133766318C>GCA354608595TFc.1371C>G (p.Asp457Glu)
c.41C>G
c.1239C>G (p.Asp413Glu)
c.990C>G (p.Asp330Glu)
3g.133766318C>TCA435815605TFc.1371C>T (p.Asp457=)
c.41C>T
c.1239C>T (p.Asp413=)
c.990C>T (p.Asp330=)
3g.133766319C>ACA354608596TFc.1372C>A (p.Leu458Ile)
c.42C>A
c.1240C>A (p.Leu414Ile)
c.991C>A (p.Leu331Ile)
3g.133766319C>GCA354608597TFc.1372C>G (p.Leu458Val)
c.42C>G
c.1240C>G (p.Leu414Val)
c.991C>G (p.Leu331Val)
3g.133766319C>TCA354608598TFc.1372C>T (p.Leu458Phe)
c.42C>T
c.1240C>T (p.Leu414Phe)
c.991C>T (p.Leu331Phe)
 gnomAD v4
3g.133766320T>ACA354608599TFc.1373T>A (p.Leu458His)
c.43T>A
c.1241T>A (p.Leu414His)
c.992T>A (p.Leu331His)
3g.133766320T>CCA354608600TFc.1373T>C (p.Leu458Pro)
c.43T>C
c.1241T>C (p.Leu414Pro)
c.992T>C (p.Leu331Pro)
3g.133766320T>GCA354608601TFc.1373T>G (p.Leu458Arg)
c.43T>G
c.1241T>G (p.Leu414Arg)
c.992T>G (p.Leu331Arg)
3g.133766321C>ACA435815606TFc.1374C>A (p.Leu458=)
c.44C>A
c.1242C>A (p.Leu414=)
c.993C>A (p.Leu331=)
3g.133766321C=CA1403119355TFc.1374C= (p.Leu458=)
c.44C=
c.1242C= (p.Leu414=)
c.993C= (p.Leu331=)
3g.133766321C>GCA435815607TFc.1374C>G (p.Leu458=)
c.44C>G
c.1242C>G (p.Leu414=)
c.993C>G (p.Leu331=)
3g.133766321C>TCA435815608TFc.1374C>T (p.Leu458=)
c.44C>T
c.1242C>T (p.Leu414=)
c.993C>T (p.Leu331=)
 dbSNP gnomAD v2 gnomAD v4
3g.133766322A=CA1403119358TFc.1375A= (p.Thr459=)
c.45A=
c.1243A= (p.Thr415=)
c.994A= (p.Thr332=)
3g.133766322A>CCA354608602TFc.1375A>C (p.Thr459Pro)
c.45A>C
c.1243A>C (p.Thr415Pro)
c.994A>C (p.Thr332Pro)
 dbSNP
3g.133766322A>GCA83685545TFc.1375A>G (p.Thr459Ala)
c.45A>G
c.1243A>G (p.Thr415Ala)
c.994A>G (p.Thr332Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.133766322A>TCA354608603TFc.1375A>T (p.Thr459Ser)
c.45A>T
c.1243A>T (p.Thr415Ser)
c.994A>T (p.Thr332Ser)
3g.133766323C>ACA354608604TFc.1376C>A (p.Thr459Asn)
c.46C>A
c.1244C>A (p.Thr415Asn)
c.995C>A (p.Thr332Asn)
3g.133766323C>GCA354608605TFc.1376C>G (p.Thr459Ser)
c.46C>G
c.1244C>G (p.Thr415Ser)
c.995C>G (p.Thr332Ser)
 gnomAD v4
3g.133766323C>TCA354608606TFc.1376C>T (p.Thr459Ile)
c.46C>T
c.1244C>T (p.Thr415Ile)
c.995C>T (p.Thr332Ile)
3g.133766324C>ACA435815609TFc.1377C>A (p.Thr459=)
c.47C>A
c.1245C>A (p.Thr415=)
c.996C>A (p.Thr332=)
3g.133766324C=CA1403119360TFc.1377C= (p.Thr459=)
c.47C=
c.1245C= (p.Thr415=)
c.996C= (p.Thr332=)
3g.133766324C>GCA435815610TFc.1377C>G (p.Thr459=)
c.47C>G
c.1245C>G (p.Thr415=)
c.996C>G (p.Thr332=)
3g.133766324C>TCA435815611TFc.1377C>T (p.Thr459=)
c.47C>T
c.1245C>T (p.Thr415=)
c.996C>T (p.Thr332=)
 dbSNP gnomAD v2
3g.133766325T>ACA354608609TFc.1378T>A (p.Trp460Arg)
c.48T>A
c.1246T>A (p.Trp416Arg)
c.997T>A (p.Trp333Arg)
3g.133766325T>CCA354608608TFc.1378T>C (p.Trp460Arg)
c.48T>C
c.1246T>C (p.Trp416Arg)
c.997T>C (p.Trp333Arg)
3g.133766325T>GCA354608607TFc.1378T>G (p.Trp460Gly)
c.48T>G
c.1246T>G (p.Trp416Gly)
c.997T>G (p.Trp333Gly)
3g.133766326G>ACA354608610TFc.1379G>A (p.Trp460Ter)
c.49G>A
c.1247G>A (p.Trp416Ter)
c.998G>A (p.Trp333Ter)
3g.133766326G>CCA354608611TFc.1379G>C (p.Trp460Ser)
c.49G>C
c.1247G>C (p.Trp416Ser)
c.998G>C (p.Trp333Ser)
3g.133766326G>TCA354608612TFc.1379G>T (p.Trp460Leu)
c.49G>T
c.1247G>T (p.Trp416Leu)
c.998G>T (p.Trp333Leu)
3g.133766327G>ACA354608613TFc.1380G>A (p.Trp460Ter)
c.50G>A
c.1248G>A (p.Trp416Ter)
c.999G>A (p.Trp333Ter)
3g.133766327G>CCA354608614TFc.1380G>C (p.Trp460Cys)
c.50G>C
c.1248G>C (p.Trp416Cys)
c.999G>C (p.Trp333Cys)
3g.133766327G>TCA354608615TFc.1380G>T (p.Trp460Cys)
c.50G>T
c.1248G>T (p.Trp416Cys)
c.999G>T (p.Trp333Cys)
3g.133766328G>ACA354608616TFc.1381G>A (p.Asp461Asn)
c.51G>A
c.1249G>A (p.Asp417Asn)
c.1000G>A (p.Asp334Asn)
 dbSNP gnomAD v2 gnomAD v4
3g.133766328G>CCA354608617TFc.1381G>C (p.Asp461His)
c.51G>C
c.1249G>C (p.Asp417His)
c.1000G>C (p.Asp334His)
3g.133766328G=CA1403119362TFc.1381G= (p.Asp461=)
c.51G=
c.1249G= (p.Asp417=)
c.1000G= (p.Asp334=)
3g.133766328G>TCA354608618TFc.1381G>T (p.Asp461Tyr)
c.51G>T
c.1249G>T (p.Asp417Tyr)
c.1000G>T (p.Asp334Tyr)
3g.133766329A>CCA354608619TFc.1382A>C (p.Asp461Ala)
c.52A>C
c.1250A>C (p.Asp417Ala)
c.1001A>C (p.Asp334Ala)
3g.133766329A>GCA354608620TFc.1382A>G (p.Asp461Gly)
c.52A>G
c.1250A>G (p.Asp417Gly)
c.1001A>G (p.Asp334Gly)
 gnomAD v4
3g.133766329A>TCA354608621TFc.1382A>T (p.Asp461Val)
c.52A>T
c.1250A>T (p.Asp417Val)
c.1001A>T (p.Asp334Val)
3g.133766330C>ACA354608622TFc.1383C>A (p.Asp461Glu)
c.53C>A
c.1251C>A (p.Asp417Glu)
c.1002C>A (p.Asp334Glu)
3g.133766330C>GCA354608623TFc.1383C>G (p.Asp461Glu)
c.53C>G
c.1251C>G (p.Asp417Glu)
c.1002C>G (p.Asp334Glu)
3g.133766330C>TCA435815612TFc.1383C>T (p.Asp461=)
c.53C>T
c.1251C>T (p.Asp417=)
c.1002C>T (p.Asp334=)
3g.133766331A>CCA354608625TFc.1384A>C (p.Asn462His)
c.54A>C
c.1252A>C (p.Asn418His)
c.1003A>C (p.Asn335His)
3g.133766331A>GCA354608626TFc.1384A>G (p.Asn462Asp)
c.54A>G
c.1252A>G (p.Asn418Asp)
c.1003A>G (p.Asn335Asp)
3g.133766331A>TCA354608624TFc.1384A>T (p.Asn462Tyr)
c.54A>T
c.1252A>T (p.Asn418Tyr)
c.1003A>T (p.Asn335Tyr)
3g.133766332A>CCA354608627TFc.1385A>C (p.Asn462Thr)
c.55A>C
c.1253A>C (p.Asn418Thr)
c.1004A>C (p.Asn335Thr)
3g.133766332A>GCA354608628TFc.1385A>G (p.Asn462Ser)
c.55A>G
c.1253A>G (p.Asn418Ser)
c.1004A>G (p.Asn335Ser)
3g.133766332A>TCA354608629TFc.1385A>T (p.Asn462Ile)
c.55A>T
c.1253A>T (p.Asn418Ile)
c.1004A>T (p.Asn335Ile)
3g.133766333T>ACA354608630TFc.1386T>A (p.Asn462Lys)
c.56T>A
c.1254T>A (p.Asn418Lys)
c.1005T>A (p.Asn335Lys)
3g.133766333T>CCA435815613TFc.1386T>C (p.Asn462=)
c.56T>C
c.1254T>C (p.Asn418=)
c.1005T>C (p.Asn335=)
3g.133766333T>GCA354608631TFc.1386T>G (p.Asn462Lys)
c.56T>G
c.1254T>G (p.Asn418Lys)
c.1005T>G (p.Asn335Lys)
3g.133766334C>ACA354608632TFc.1387C>A (p.Leu463Met)
c.57C>A
c.1255C>A (p.Leu419Met)
c.1006C>A (p.Leu336Met)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.133766334C=CA1403119364TFc.1387C= (p.Leu463=)
c.57C=
c.1255C= (p.Leu419=)
c.1006C= (p.Leu336=)
3g.133766334C>GCA354608633TFc.1387C>G (p.Leu463Val)
c.57C>G
c.1255C>G (p.Leu419Val)
c.1006C>G (p.Leu336Val)
3g.133766334C>TCA435815614TFc.1387C>T (p.Leu463=)
c.57C>T
c.1255C>T (p.Leu419=)
c.1006C>T (p.Leu336=)
3g.133766335T>ACA354608634TFc.1388T>A (p.Leu463Gln)
c.58T>A
c.1256T>A (p.Leu419Gln)
c.1007T>A (p.Leu336Gln)
3g.133766335T>CCA354608635TFc.1388T>C (p.Leu463Pro)
c.58T>C
c.1256T>C (p.Leu419Pro)
c.1007T>C (p.Leu336Pro)
3g.133766335T>GCA354608636TFc.1388T>G (p.Leu463Arg)
c.58T>G
c.1256T>G (p.Leu419Arg)
c.1007T>G (p.Leu336Arg)
 gnomAD v4
3g.133766336G>ACA435815615TFc.1389G>A (p.Leu463=)
c.59G>A
c.1257G>A (p.Leu419=)
c.1008G>A (p.Leu336=)
3g.133766336G>CCA435815616TFc.1389G>C (p.Leu463=)
c.59G>C
c.1257G>C (p.Leu419=)
c.1008G>C (p.Leu336=)
3g.133766336G>TCA435815617TFc.1389G>T (p.Leu463=)
c.59G>T
c.1257G>T (p.Leu419=)
c.1008G>T (p.Leu336=)
3g.133766337A>CCA354608637TFc.1390A>C (p.Lys464Gln)
c.60A>C
c.1258A>C (p.Lys420Gln)
c.1009A>C (p.Lys337Gln)
3g.133766337A>GCA354608638TFc.1390A>G (p.Lys464Glu)
c.60A>G
c.1258A>G (p.Lys420Glu)
c.1009A>G (p.Lys337Glu)
3g.133766337A>TCA354608639TFc.1390A>T (p.Lys464Ter)
c.60A>T
c.1258A>T (p.Lys420Ter)
c.1009A>T (p.Lys337Ter)
3g.133766338A=CA1403119368TFc.1391A= (p.Lys464=)
c.61A=
c.1259A= (p.Lys420=)
c.1010A= (p.Lys337=)
3g.133766338A>CCA354608640TFc.1391A>C (p.Lys464Thr)
c.61A>C
c.1259A>C (p.Lys420Thr)
c.1010A>C (p.Lys337Thr)
3g.133766338A>GCA354608641TFc.1391A>G (p.Lys464Arg)
c.61A>G
c.1259A>G (p.Lys420Arg)
c.1010A>G (p.Lys337Arg)
 dbSNP gnomAD v2 gnomAD v4
3g.133766338A>TCA2625292TFc.1391A>T (p.Lys464Ile)
c.61A>T
c.1259A>T (p.Lys420Ile)
c.1010A>T (p.Lys337Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133766339A>CCA354608642TFc.1392A>C (p.Lys464Asn)
c.62A>C
c.1260A>C (p.Lys420Asn)
c.1011A>C (p.Lys337Asn)
3g.133766339A>GCA435815618TFc.1392A>G (p.Lys464=)
c.62A>G
c.1260A>G (p.Lys420=)
c.1011A>G (p.Lys337=)
3g.133766339A>TCA354608643TFc.1392A>T (p.Lys464Asn)
c.62A>T
c.1260A>T (p.Lys420Asn)
c.1011A>T (p.Lys337Asn)
3g.133766340G>ACA354608644TFc.1393G>A (p.Gly465Ser)
c.63G>A
c.1261G>A (p.Gly421Ser)
c.1012G>A (p.Gly338Ser)
 gnomAD v4
3g.133766340G>CCA354608645TFc.1393G>C (p.Gly465Arg)
c.63G>C
c.1261G>C (p.Gly421Arg)
c.1012G>C (p.Gly338Arg)
3g.133766340G>TCA354608646TFc.1393G>T (p.Gly465Cys)
c.63G>T
c.1261G>T (p.Gly421Cys)
c.1012G>T (p.Gly338Cys)
3g.133766341G>ACA354608647TFc.1394G>A (p.Gly465Asp)
c.64G>A
c.1262G>A (p.Gly421Asp)
c.1013G>A (p.Gly338Asp)
3g.133766341G>CCA354608648TFc.1394G>C (p.Gly465Ala)
c.64G>C
c.1262G>C (p.Gly421Ala)
c.1013G>C (p.Gly338Ala)
3g.133766341G>TCA354608649TFc.1394G>T (p.Gly465Val)
c.64G>T
c.1262G>T (p.Gly421Val)
c.1013G>T (p.Gly338Val)
 gnomAD v4
3g.133766342C>ACA435815619TFc.1395C>A (p.Gly465=)
c.65C>A
c.1263C>A (p.Gly421=)
c.1014C>A (p.Gly338=)
 dbSNP gnomAD v4
3g.133766342C=CA1403119371TFc.1395C= (p.Gly465=)
c.65C=
c.1263C= (p.Gly421=)
c.1014C= (p.Gly338=)
3g.133766342C>GCA435815620TFc.1395C>G (p.Gly465=)
c.65C>G
c.1263C>G (p.Gly421=)
c.1014C>G (p.Gly338=)
3g.133766342C>TCA435815621TFc.1395C>T (p.Gly465=)
c.65C>T
c.1263C>T (p.Gly421=)
c.1014C>T (p.Gly338=)
3g.133766343A>CCA354608650TFc.1396A>C (p.Lys466Gln)
c.66A>C
c.1264A>C (p.Lys422Gln)
c.1015A>C (p.Lys339Gln)
3g.133766343A>GCA354608651TFc.1396A>G (p.Lys466Glu)
c.66A>G
c.1264A>G (p.Lys422Glu)
c.1015A>G (p.Lys339Glu)
3g.133766343A>TCA354608652TFc.1396A>T (p.Lys466Ter)
c.66A>T
c.1264A>T (p.Lys422Ter)
c.1015A>T (p.Lys339Ter)
3g.133766344A>CCA354608654TFc.1397A>C (p.Lys466Thr)
c.67A>C
c.1265A>C (p.Lys422Thr)
c.1016A>C (p.Lys339Thr)
3g.133766344A>GCA354608655TFc.1397A>G (p.Lys466Arg)
c.67A>G
c.1265A>G (p.Lys422Arg)
c.1016A>G (p.Lys339Arg)
3g.133766344A>TCA354608653TFc.1397A>T (p.Lys466Met)
c.67A>T
c.1265A>T (p.Lys422Met)
c.1016A>T (p.Lys339Met)
3g.133766345G>ACA435815622TFc.1398G>A (p.Lys466=)
c.68G>A
c.1266G>A (p.Lys422=)
c.1017G>A (p.Lys339=)
3g.133766345G>CCA354608656TFc.1398G>C (p.Lys466Asn)
c.68G>C
c.1266G>C (p.Lys422Asn)
c.1017G>C (p.Lys339Asn)
3g.133766345G>TCA354608657TFc.1398G>T (p.Lys466Asn)
c.68G>T
c.1266G>T (p.Lys422Asn)
c.1017G>T (p.Lys339Asn)
3g.133766346A>CCA354608658TFc.1399A>C (p.Lys467Gln)
c.69A>C
c.1267A>C (p.Lys423Gln)
c.1018A>C (p.Lys340Gln)
3g.133766346A>GCA354608659TFc.1399A>G (p.Lys467Glu)
c.69A>G
c.1267A>G (p.Lys423Glu)
c.1018A>G (p.Lys340Glu)
3g.133766346A>TCA354608660TFc.1399A>T (p.Lys467Ter)
c.69A>T
c.1267A>T (p.Lys423Ter)
c.1018A>T (p.Lys340Ter)
3g.133766347A>CCA354608661TFc.1400A>C (p.Lys467Thr)
c.70A>C
c.1268A>C (p.Lys423Thr)
c.1019A>C (p.Lys340Thr)
 gnomAD v4
3g.133766347A>GCA354608662TFc.1400A>G (p.Lys467Arg)
c.70A>G
c.1268A>G (p.Lys423Arg)
c.1019A>G (p.Lys340Arg)
3g.133766347A>TCA354608663TFc.1400A>T (p.Lys467Met)
c.70A>T
c.1268A>T (p.Lys423Met)
c.1019A>T (p.Lys340Met)
 gnomAD v4
3g.133766348G>ACA435815623TFc.1401G>A (p.Lys467=)
c.71G>A
c.1269G>A (p.Lys423=)
c.1020G>A (p.Lys340=)
3g.133766348G>CCA2625293TFc.1401G>C (p.Lys467Asn)
c.71G>C
c.1269G>C (p.Lys423Asn)
c.1020G>C (p.Lys340Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133766348G=CA1403119373TFc.1401G= (p.Lys467=)
c.71G=
c.1269G= (p.Lys423=)
c.1020G= (p.Lys340=)
3g.133766348G>TCA354608664TFc.1401G>T (p.Lys467Asn)
c.71G>T
c.1269G>T (p.Lys423Asn)
c.1020G>T (p.Lys340Asn)
3g.133766349T>ACA354608665TFc.1402T>A (p.Ser468Thr)
c.72T>A
c.1270T>A (p.Ser424Thr)
c.1021T>A (p.Ser341Thr)
3g.133766349T>CCA354608666TFc.1402T>C (p.Ser468Pro)
c.72T>C
c.1270T>C (p.Ser424Pro)
c.1021T>C (p.Ser341Pro)
 dbSNP gnomAD v2
3g.133766349T>GCA354608667TFc.1402T>G (p.Ser468Ala)
c.72T>G
c.1270T>G (p.Ser424Ala)
c.1021T>G (p.Ser341Ala)
3g.133766349T=CA1403119377TFc.1402T= (p.Ser468=)
c.72T=
c.1270T= (p.Ser424=)
c.1021T= (p.Ser341=)
3g.133766350C>ACA354608668TFc.1403C>A (p.Ser468Tyr)
c.73C>A
c.1271C>A (p.Ser424Tyr)
c.1022C>A (p.Ser341Tyr)
3g.133766350C>GCA354608669TFc.1403C>G (p.Ser468Cys)
c.73C>G
c.1271C>G (p.Ser424Cys)
c.1022C>G (p.Ser341Cys)
3g.133766350C>TCA354608670TFc.1403C>T (p.Ser468Phe)
c.73C>T
c.1271C>T (p.Ser424Phe)
c.1022C>T (p.Ser341Phe)
3g.133766351C>ACA435815624TFc.1404C>A (p.Ser468=)
c.74C>A
c.1272C>A (p.Ser424=)
c.1023C>A (p.Ser341=)
3g.133766351C>GCA435815625TFc.1404C>G (p.Ser468=)
c.74C>G
c.1272C>G (p.Ser424=)
c.1023C>G (p.Ser341=)
3g.133766351C>TCA435815626TFc.1404C>T (p.Ser468=)
c.74C>T
c.1272C>T (p.Ser424=)
c.1023C>T (p.Ser341=)
3g.133766352T>ACA354608671TFc.1405T>A (p.Cys469Ser)
c.75T>A
c.1273T>A (p.Cys425Ser)
c.1024T>A (p.Cys342Ser)
3g.133766352T>CCA354608673TFc.1405T>C (p.Cys469Arg)
c.75T>C
c.1273T>C (p.Cys425Arg)
c.1024T>C (p.Cys342Arg)
 dbSNP gnomAD v3 gnomAD v4
3g.133766352T>GCA354608672TFc.1405T>G (p.Cys469Gly)
c.75T>G
c.1273T>G (p.Cys425Gly)
c.1024T>G (p.Cys342Gly)
3g.133766352T=CA1403119379TFc.1405T= (p.Cys469=)
c.75T=
c.1273T= (p.Cys425=)
c.1024T= (p.Cys342=)
3g.133766353G>ACA354608674TFc.1406G>A (p.Cys469Tyr)
c.76G>A
c.1274G>A (p.Cys425Tyr)
c.1025G>A (p.Cys342Tyr)
3g.133766353G>CCA354608675TFc.1406G>C (p.Cys469Ser)
c.76G>C
c.1274G>C (p.Cys425Ser)
c.1025G>C (p.Cys342Ser)
3g.133766353G>TCA354608676TFc.1406G>T (p.Cys469Phe)
c.76G>T
c.1274G>T (p.Cys425Phe)
c.1025G>T (p.Cys342Phe)
3g.133766354C>ACA354608677TFc.1407C>A (p.Cys469Ter)
c.77C>A
c.1275C>A (p.Cys425Ter)
c.1026C>A (p.Cys342Ter)
3g.133766354C>GCA354608678TFc.1407C>G (p.Cys469Trp)
c.77C>G
c.1275C>G (p.Cys425Trp)
c.1026C>G (p.Cys342Trp)
3g.133766354C>TCA435815627TFc.1407C>T (p.Cys469=)
c.77C>T
c.1275C>T (p.Cys425=)
c.1026C>T (p.Cys342=)
3g.133766354_133766355delinsAACA645516345TFc.1407_1408delinsAA (p.Cys469Ter)
c.77_78delinsAA
c.1275_1276delinsAA (p.Cys425Ter)
c.1026_1027delinsAA (p.Cys342Ter)
 COSMIC
3g.133766355C>ACA354608679TFc.1408C>A (p.His470Asn)
c.78C>A
c.1276C>A (p.His426Asn)
c.1027C>A (p.His343Asn)
3g.133766355C=CA1403119381TFc.1408C= (p.His470=)
c.78C=
c.1276C= (p.His426=)
c.1027C= (p.His343=)
3g.133766355C>GCA354608680TFc.1408C>G (p.His470Asp)
c.78C>G
c.1276C>G (p.His426Asp)
c.1027C>G (p.His343Asp)
3g.133766355C>TCA83685551TFc.1408C>T (p.His470Tyr)
c.78C>T
c.1276C>T (p.His426Tyr)
c.1027C>T (p.His343Tyr)
 dbSNP gnomAD v4
3g.133766356A>CCA354608681TFc.1409A>C (p.His470Pro)
c.79A>C
c.1277A>C (p.His426Pro)
c.1028A>C (p.His343Pro)
 dbSNP
3g.133766356A>GCA354608682TFc.1409A>G (p.His470Arg)
c.79A>G
c.1277A>G (p.His426Arg)
c.1028A>G (p.His343Arg)
3g.133766356A>TCA354608683TFc.1409A>T (p.His470Leu)
c.79A>T
c.1277A>T (p.His426Leu)
c.1028A>T (p.His343Leu)
3g.133766357T>ACA354608685TFc.1410T>A (p.His470Gln)
c.80T>A
c.1278T>A (p.His426Gln)
c.1029T>A (p.His343Gln)
3g.133766357T>CCA435815628TFc.1410T>C (p.His470=)
c.80T>C
c.1278T>C (p.His426=)
c.1029T>C (p.His343=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.133766357T>GCA354608684TFc.1410T>G (p.His470Gln)
c.80T>G
c.1278T>G (p.His426Gln)
c.1029T>G (p.His343Gln)
3g.133766357T=CA1403119384TFc.1410T= (p.His470=)
c.80T=
c.1278T= (p.His426=)
c.1029T= (p.His343=)
3g.133766358A>CCA354608686TFc.1411A>C (p.Thr471Pro)
c.81A>C
c.1279A>C (p.Thr427Pro)
c.1030A>C (p.Thr344Pro)
 gnomAD v4
3g.133766358A>GCA354608687TFc.1411A>G (p.Thr471Ala)
c.81A>G
c.1279A>G (p.Thr427Ala)
c.1030A>G (p.Thr344Ala)
3g.133766358A>TCA354608688TFc.1411A>T (p.Thr471Ser)
c.81A>T
c.1279A>T (p.Thr427Ser)
c.1030A>T (p.Thr344Ser)
3g.133766359C>ACA354608689TFc.1412C>A (p.Thr471Lys)
c.82C>A
c.1280C>A (p.Thr427Lys)
c.1031C>A (p.Thr344Lys)
 gnomAD v4
3g.133766359C=CA1403119389TFc.1412C= (p.Thr471=)
c.82C=
c.1280C= (p.Thr427=)
c.1031C= (p.Thr344=)
3g.133766359C>GCA354608690TFc.1412C>G (p.Thr471Arg)
c.82C>G
c.1280C>G (p.Thr427Arg)
c.1031C>G (p.Thr344Arg)
 gnomAD v4
3g.133766359C>TCA2625294TFc.1412C>T (p.Thr471Met)
c.82C>T
c.1280C>T (p.Thr427Met)
c.1031C>T (p.Thr344Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133766360G>ACA435815629TFc.1413G>A (p.Thr471=)
c.83G>A
c.1281G>A (p.Thr427=)
c.1032G>A (p.Thr344=)
 dbSNP gnomAD v2 gnomAD v4
3g.133766360G>CCA435815630TFc.1413G>C (p.Thr471=)
c.83G>C
c.1281G>C (p.Thr427=)
c.1032G>C (p.Thr344=)
 dbSNP gnomAD v3 gnomAD v4
3g.133766360G=CA1403119395TFc.1413G= (p.Thr471=)
c.83G=
c.1281G= (p.Thr427=)
c.1032G= (p.Thr344=)
3g.133766360G>TCA435815631TFc.1413G>T (p.Thr471=)
c.83G>T
c.1281G>T (p.Thr427=)
c.1032G>T (p.Thr344=)
 dbSNP gnomAD v3 gnomAD v4
3g.133766361G>ACA354608693TFc.1414G>A (p.Ala472Thr)
c.84G>A
c.1282G>A (p.Ala428Thr)
c.1033G>A (p.Ala345Thr)
 gnomAD v4
3g.133766361G>CCA354608692TFc.1414G>C (p.Ala472Pro)
c.84G>C
c.1282G>C (p.Ala428Pro)
c.1033G>C (p.Ala345Pro)
3g.133766361G>TCA354608691TFc.1414G>T (p.Ala472Ser)
c.84G>T
c.1282G>T (p.Ala428Ser)
c.1033G>T (p.Ala345Ser)
3g.133766362_133766364delCA2667768508TFc.1415_1417del (p.Ala472del)
c.85_87del
c.1283_1285del (p.Ala428del)
c.1034_1036del (p.Ala345del)
 gnomAD v4
3g.133766362C>ACA354608694TFc.1415C>A (p.Ala472Glu)
c.85C>A
c.1283C>A (p.Ala428Glu)
c.1034C>A (p.Ala345Glu)
3g.133766362C>GCA354608695TFc.1415C>G (p.Ala472Gly)
c.85C>G
c.1283C>G (p.Ala428Gly)
c.1034C>G (p.Ala345Gly)
 gnomAD v4
3g.133766362C>TCA354608696TFc.1415C>T (p.Ala472Val)
c.85C>T
c.1283C>T (p.Ala428Val)
c.1034C>T (p.Ala345Val)
3g.133766363A=CA1403119400TFc.1416A= (p.Ala472=)
c.86A=
c.1284A= (p.Ala428=)
c.1035A= (p.Ala345=)
3g.133766363A>CCA435815632TFc.1416A>C (p.Ala472=)
c.86A>C
c.1284A>C (p.Ala428=)
c.1035A>C (p.Ala345=)
 dbSNP gnomAD v3 gnomAD v4
3g.133766363A>GCA435815633TFc.1416A>G (p.Ala472=)
c.86A>G
c.1284A>G (p.Ala428=)
c.1035A>G (p.Ala345=)
3g.133766363A>TCA435815634TFc.1416A>T (p.Ala472=)
c.86A>T
c.1284A>T (p.Ala428=)
c.1035A>T (p.Ala345=)
3g.133766364G>ACA354608697TFc.1417G>A (p.Val473Ile)
c.87G>A
c.1285G>A (p.Val429Ile)
c.1036G>A (p.Val346Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.133766364G>CCA354608698TFc.1417G>C (p.Val473Leu)
c.87G>C
c.1285G>C (p.Val429Leu)
c.1036G>C (p.Val346Leu)
3g.133766364G=CA1403119403TFc.1417G= (p.Val473=)
c.87G=
c.1285G= (p.Val429=)
c.1036G= (p.Val346=)
3g.133766364G>TCA354608699TFc.1417G>T (p.Val473Phe)
c.87G>T
c.1285G>T (p.Val429Phe)
c.1036G>T (p.Val346Phe)
3g.133766365T>ACA354608700TFc.1418T>A (p.Val473Asp)
c.88T>A
c.1286T>A (p.Val429Asp)
c.1037T>A (p.Val346Asp)
3g.133766365T>CCA354608702TFc.1418T>C (p.Val473Ala)
c.88T>C
c.1286T>C (p.Val429Ala)
c.1037T>C (p.Val346Ala)
 dbSNP
3g.133766365T>GCA354608701TFc.1418T>G (p.Val473Gly)
c.88T>G
c.1286T>G (p.Val429Gly)
c.1037T>G (p.Val346Gly)
 dbSNP gnomAD v2
3g.133766365T=CA1403119410TFc.1418T= (p.Val473=)
c.88T=
c.1286T= (p.Val429=)
c.1037T= (p.Val346=)
3g.133766366T>ACA435815635TFc.1419T>A (p.Val473=)
c.89T>A
c.1287T>A (p.Val429=)
c.1038T>A (p.Val346=)
 gnomAD v4
3g.133766366T>CCA435815636TFc.1419T>C (p.Val473=)
c.89T>C
c.1287T>C (p.Val429=)
c.1038T>C (p.Val346=)
3g.133766366T>GCA435815637TFc.1419T>G (p.Val473=)
c.89T>G
c.1287T>G (p.Val429=)
c.1038T>G (p.Val346=)
 dbSNP gnomAD v3 gnomAD v4
3g.133766366T=CA1403119415TFc.1419T= (p.Val473=)
c.89T=
c.1287T= (p.Val429=)
c.1038T= (p.Val346=)
3g.133766367G>ACA354608703TFc.1420G>A (p.Gly474Ser)
c.90G>A
c.1288G>A (p.Gly430Ser)
c.1039G>A (p.Gly347Ser)
 gnomAD v4
3g.133766367G>CCA354608704TFc.1420G>C (p.Gly474Arg)
c.90G>C
c.1288G>C (p.Gly430Arg)
c.1039G>C (p.Gly347Arg)
3g.133766367G>TCA354608705TFc.1420G>T (p.Gly474Cys)
c.90G>T
c.1288G>T (p.Gly430Cys)
c.1039G>T (p.Gly347Cys)
3g.133766368G>ACA354608706TFc.1421G>A (p.Gly474Asp)
c.91G>A
c.1289G>A (p.Gly430Asp)
c.1040G>A (p.Gly347Asp)
 dbSNP gnomAD v3 gnomAD v4
3g.133766368G>CCA354608707TFc.1421G>C (p.Gly474Ala)
c.91G>C
c.1289G>C (p.Gly430Ala)
c.1040G>C (p.Gly347Ala)
3g.133766368G=CA1403119419TFc.1421G= (p.Gly474=)
c.91G=
c.1289G= (p.Gly430=)
c.1040G= (p.Gly347=)
3g.133766368G>TCA354608708TFc.1421G>T (p.Gly474Val)
c.91G>T
c.1289G>T (p.Gly430Val)
c.1040G>T (p.Gly347Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.133766369C>ACA435815638TFc.1422C>A (p.Gly474=)
c.92C>A
c.1290C>A (p.Gly430=)
c.1041C>A (p.Gly347=)
3g.133766369C>GCA435815639TFc.1422C>G (p.Gly474=)
c.92C>G
c.1290C>G (p.Gly430=)
c.1041C>G (p.Gly347=)
3g.133766369C>TCA435815640TFc.1422C>T (p.Gly474=)
c.92C>T
c.1290C>T (p.Gly430=)
c.1041C>T (p.Gly347=)
 ClinVar
3g.133766370A>CCA435815641TFc.1423A>C (p.Arg475=)
c.93A>C
c.1291A>C (p.Arg431=)
c.1042A>C (p.Arg348=)
3g.133766370A>GCA354608709TFc.1423A>G (p.Arg475Gly)
c.93A>G
c.1291A>G (p.Arg431Gly)
c.1042A>G (p.Arg348Gly)
3g.133766370A>TCA354608710TFc.1423A>T (p.Arg475Ter)
c.93A>T
c.1291A>T (p.Arg431Ter)
c.1042A>T (p.Arg348Ter)
3g.133766371G>ACA2625295TFc.1424G>A (p.Arg475Lys)
c.94G>A
c.1292G>A (p.Arg431Lys)
c.1043G>A (p.Arg348Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.133766371G>CCA354608711TFc.1424G>C (p.Arg475Thr)
c.94G>C
c.1292G>C (p.Arg431Thr)
c.1043G>C (p.Arg348Thr)
 COSMIC
3g.133766371G=CA1403119420TFc.1424G= (p.Arg475=)
c.94G=
c.1292G= (p.Arg431=)
c.1043G= (p.Arg348=)
3g.133766371G>TCA354608712TFc.1424G>T (p.Arg475Ile)
c.94G>T
c.1292G>T (p.Arg431Ile)
c.1043G>T (p.Arg348Ile)
3g.133766372A=CA1403119425TFc.1425A= (p.Arg475=)
c.95A=
c.1293A= (p.Arg431=)
c.1044A= (p.Arg348=)
3g.133766372A>CCA354608713TFc.1425A>C (p.Arg475Ser)
c.95A>C
c.1293A>C (p.Arg431Ser)
c.1044A>C (p.Arg348Ser)
3g.133766372A>GCA2625296TFc.1425A>G (p.Arg475=)
c.95A>G
c.1293A>G (p.Arg431=)
c.1044A>G (p.Arg348=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133766372A>TCA354608714TFc.1425A>T (p.Arg475Ser)
c.95A>T
c.1293A>T (p.Arg431Ser)
c.1044A>T (p.Arg348Ser)
3g.133766373A>CCA354608715TFc.1426A>C (p.Thr476Pro)
c.96A>C
c.1294A>C (p.Thr432Pro)
c.1045A>C (p.Thr349Pro)
3g.133766373A>GCA354608716TFc.1426A>G (p.Thr476Ala)
c.96A>G
c.1294A>G (p.Thr432Ala)
c.1045A>G (p.Thr349Ala)
3g.133766373A>TCA354608717TFc.1426A>T (p.Thr476Ser)
c.96A>T
c.1294A>T (p.Thr432Ser)
c.1045A>T (p.Thr349Ser)
3g.133766374C>ACA354608718TFc.1427C>A (p.Thr476Asn)
c.97C>A
c.1295C>A (p.Thr432Asn)
c.1046C>A (p.Thr349Asn)
3g.133766374C>GCA354608719TFc.1427C>G (p.Thr476Ser)
c.97C>G
c.1295C>G (p.Thr432Ser)
c.1046C>G (p.Thr349Ser)
3g.133766374C>TCA354608720TFc.1427C>T (p.Thr476Ile)
c.97C>T
c.1295C>T (p.Thr432Ile)
c.1046C>T (p.Thr349Ile)
3g.133766375C>ACA435815643TFc.1428C>A (p.Thr476=)
c.98C>A
c.1296C>A (p.Thr432=)
c.1047C>A (p.Thr349=)
3g.133766375C=CA1403119428TFc.1428C= (p.Thr476=)
c.98C=
c.1296C= (p.Thr432=)
c.1047C= (p.Thr349=)
3g.133766375C>GCA435815642TFc.1428C>G (p.Thr476=)
c.98C>G
c.1296C>G (p.Thr432=)
c.1047C>G (p.Thr349=)
3g.133766375C>TCA2625297TFc.1428C>T (p.Thr476=)
c.98C>T
c.1296C>T (p.Thr432=)
c.1047C>T (p.Thr349=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.133766376G>ACA2625298TFc.1429G>A (p.Ala477Thr)
c.99G>A
c.1297G>A (p.Ala433Thr)
c.1048G>A (p.Ala350Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.133766376G>CCA122567TFc.1429G>C (p.Ala477Pro)
c.99G>C
c.1297G>C (p.Ala433Pro)
c.1048G>C (p.Ala350Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.133766376G=CA1403119434TFc.1429G= (p.Ala477=)
c.99G=
c.1297G= (p.Ala433=)
c.1048G= (p.Ala350=)
3g.133766376G>TCA354608721TFc.1429G>T (p.Ala477Ser)
c.99G>T
c.1297G>T (p.Ala433Ser)
c.1048G>T (p.Ala350Ser)
 dbSNP gnomAD v4

Number of alleles fetched