Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.74636431T>ACA496542633RFWD3c.1341A>T (p.Ala447=)
c.507A>T (p.Ala169=)
16g.74636431T>CCA496542631RFWD3c.1341A>G (p.Ala447=)
c.507A>G (p.Ala169=)
gnomAD v4
16g.74636431T>GCA496542629RFWD3c.1341A>C (p.Ala447=)
c.507A>C (p.Ala169=)
16g.74636432G>ACA396761686RFWD3c.1340C>T (p.Ala447Val)
c.506C>T (p.Ala169Val)
16g.74636432G>CCA8169246RFWD3c.1340C>G (p.Ala447Gly)
c.506C>G (p.Ala169Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.74636432G=CA2232905940RFWD3c.1340C= (p.Ala447=)
c.506C= (p.Ala169=)
16g.74636432G>TCA396761689RFWD3c.1340C>A (p.Ala447Glu)
c.506C>A (p.Ala169Glu)
16g.74636433C>ACA396761692RFWD3c.1339G>T (p.Ala447Ser)
c.505G>T (p.Ala169Ser)
16g.74636433C>GCA396761693RFWD3c.1339G>C (p.Ala447Pro)
c.505G>C (p.Ala169Pro)
16g.74636433C>TCA396761695RFWD3c.1339G>A (p.Ala447Thr)
c.505G>A (p.Ala169Thr)
ClinVar
16g.74636434C>ACA8169248RFWD3c.1338G>T (p.Gln446His)
c.504G>T (p.Gln168His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.74636434C=CA2232905941RFWD3c.1338G= (p.Gln446=)
c.504G= (p.Gln168=)
16g.74636434C>GCA396761698RFWD3c.1338G>C (p.Gln446His)
c.504G>C (p.Gln168His)
16g.74636434C>TCA8169247RFWD3c.1338G>A (p.Gln446=)
c.504G>A (p.Gln168=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.74636435T>ACA396761702RFWD3c.1337A>T (p.Gln446Leu)
c.503A>T (p.Gln168Leu)
dbSNP gnomAD v4
16g.74636435T>CCA396761705RFWD3c.1337A>G (p.Gln446Arg)
c.503A>G (p.Gln168Arg)
dbSNP gnomAD v3 gnomAD v4
16g.74636435T>GCA396761703RFWD3c.1337A>C (p.Gln446Pro)
c.503A>C (p.Gln168Pro)
gnomAD v3 gnomAD v4
16g.74636435T=CA2232905942RFWD3c.1337A= (p.Gln446=)
c.503A= (p.Gln168=)
16g.74636436G>ACA396761708RFWD3c.1336C>T (p.Gln446Ter)
c.502C>T (p.Gln168Ter)
16g.74636436G>CCA396761709RFWD3c.1336C>G (p.Gln446Glu)
c.502C>G (p.Gln168Glu)
16g.74636436G>TCA396761710RFWD3c.1336C>A (p.Gln446Lys)
c.502C>A (p.Gln168Lys)
16g.74636437A=CA2232905943RFWD3c.1335T= (p.Ser445=)
c.501T= (p.Ser167=)
16g.74636437A>CCA496542648RFWD3c.1335T>G (p.Ser445=)
c.501T>G (p.Ser167=)
16g.74636437A>GCA283745817RFWD3c.1335T>C (p.Ser445=)
c.501T>C (p.Ser167=)
dbSNP
16g.74636437A>TCA496542652RFWD3c.1335T>A (p.Ser445=)
c.501T>A (p.Ser167=)
16g.74636438G>ACA396761713RFWD3c.1334C>T (p.Ser445Phe)
c.500C>T (p.Ser167Phe)
dbSNP
16g.74636438G>CCA283745821RFWD3c.1334C>G (p.Ser445Cys)
c.500C>G (p.Ser167Cys)
dbSNP COSMIC
16g.74636438G=CA2232905944RFWD3c.1334C= (p.Ser445=)
c.500C= (p.Ser167=)
16g.74636438G>TCA396761717RFWD3c.1334C>A (p.Ser445Tyr)
c.500C>A (p.Ser167Tyr)
16g.74636439A>CCA396761719RFWD3c.1333T>G (p.Ser445Ala)
c.499T>G (p.Ser167Ala)
16g.74636439A>GCA396761721RFWD3c.1333T>C (p.Ser445Pro)
c.499T>C (p.Ser167Pro)
16g.74636439A>TCA396761722RFWD3c.1333T>A (p.Ser445Thr)
c.499T>A (p.Ser167Thr)
16g.74636440_74636441dupCA2634278646RFWD3c.1332_1333dup (p.Ser445TyrfsTer16)
c.498_499dup (p.Ser167TyrfsTer16)
gnomAD v4
16g.74636440T>ACA496542661RFWD3c.1332A>T (p.Val444=)
c.498A>T (p.Val166=)
16g.74636440T>CCA496542663RFWD3c.1332A>G (p.Val444=)
c.498A>G (p.Val166=)
dbSNP gnomAD v2 gnomAD v4
16g.74636440T>GCA496542665RFWD3c.1332A>C (p.Val444=)
c.498A>C (p.Val166=)
16g.74636440T=CA2232905945RFWD3c.1332A= (p.Val444=)
c.498A= (p.Val166=)
16g.74636441A>CCA396761727RFWD3c.1331T>G (p.Val444Gly)
c.497T>G (p.Val166Gly)
16g.74636441A>GCA396761730RFWD3c.1331T>C (p.Val444Ala)
c.497T>C (p.Val166Ala)
gnomAD v4
16g.74636441A>TCA396761726RFWD3c.1331T>A (p.Val444Glu)
c.497T>A (p.Val166Glu)
16g.74636442C>ACA396761732RFWD3c.1330G>T (p.Val444Leu)
c.496G>T (p.Val166Leu)
16g.74636442C>GCA396761734RFWD3c.1330G>C (p.Val444Leu)
c.496G>C (p.Val166Leu)
16g.74636442C>TCA396761736RFWD3c.1330G>A (p.Val444Ile)
c.496G>A (p.Val166Ile)
COSMIC
16g.74636443T>ACA496542675RFWD3c.1329A>T (p.Thr443=)
c.495A>T (p.Thr165=)
16g.74636443T>CCA496542676RFWD3c.1329A>G (p.Thr443=)
c.495A>G (p.Thr165=)
ClinVar dbSNP
16g.74636443T>GCA496542678RFWD3c.1329A>C (p.Thr443=)
c.495A>C (p.Thr165=)
16g.74636443T=CA2232905946RFWD3c.1329A= (p.Thr443=)
c.495A= (p.Thr165=)
16g.74636444G>ACA396761738RFWD3c.1328C>T (p.Thr443Ile)
c.494C>T (p.Thr165Ile)
gnomAD v4
16g.74636444G>CCA396761740RFWD3c.1328C>G (p.Thr443Arg)
c.494C>G (p.Thr165Arg)
gnomAD v4
16g.74636444G=CA2232905947RFWD3c.1328C= (p.Thr443=)
c.494C= (p.Thr165=)
16g.74636444G>TCA396761741RFWD3c.1328C>A (p.Thr443Lys)
c.494C>A (p.Thr165Lys)
dbSNP gnomAD v4
16g.74636445T>ACA396761745RFWD3c.1327A>T (p.Thr443Ser)
c.493A>T (p.Thr165Ser)
gnomAD v4
16g.74636445T>CCA8169249RFWD3c.1327A>G (p.Thr443Ala)
c.493A>G (p.Thr165Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.74636445T>GCA396761744RFWD3c.1327A>C (p.Thr443Pro)
c.493A>C (p.Thr165Pro)
16g.74636445T=CA2232905948RFWD3c.1327A= (p.Thr443=)
c.493A= (p.Thr165=)
16g.74636446G>ACA283745826RFWD3c.1326C>T (p.Phe442=)
c.492C>T (p.Phe164=)
dbSNP gnomAD v3 gnomAD v4
16g.74636446G>CCA396761748RFWD3c.1326C>G (p.Phe442Leu)
c.492C>G (p.Phe164Leu)
16g.74636446G=CA2232905949RFWD3c.1326C= (p.Phe442=)
c.492C= (p.Phe164=)
16g.74636446G>TCA396761750RFWD3c.1326C>A (p.Phe442Leu)
c.492C>A (p.Phe164Leu)
16g.74636447A>CCA396761752RFWD3c.1325T>G (p.Phe442Cys)
c.491T>G (p.Phe164Cys)
16g.74636447A>GCA396761754RFWD3c.1325T>C (p.Phe442Ser)
c.491T>C (p.Phe164Ser)
16g.74636447A>TCA396761755RFWD3c.1325T>A (p.Phe442Tyr)
c.491T>A (p.Phe164Tyr)
16g.74636448A=CA2232905950RFWD3c.1324T= (p.Phe442=)
c.490T= (p.Phe164=)
16g.74636448A>CCA396761757RFWD3c.1324T>G (p.Phe442Val)
c.490T>G (p.Phe164Val)
16g.74636448A>GCA396761761RFWD3c.1324T>C (p.Phe442Leu)
c.490T>C (p.Phe164Leu)
dbSNP
16g.74636448A>TCA396761759RFWD3c.1324T>A (p.Phe442Ile)
c.490T>A (p.Phe164Ile)
16g.74636449G>ACA496542698RFWD3c.1323C>T (p.Thr441=)
c.489C>T (p.Thr163=)
gnomAD v4
16g.74636449G>CCA496542700RFWD3c.1323C>G (p.Thr441=)
c.489C>G (p.Thr163=)
16g.74636449G>TCA496542701RFWD3c.1323C>A (p.Thr441=)
c.489C>A (p.Thr163=)
16g.74636450G>ACA396761763RFWD3c.1322C>T (p.Thr441Ile)
c.488C>T (p.Thr163Ile)
dbSNP gnomAD v3 gnomAD v4
16g.74636450G>CCA396761765RFWD3c.1322C>G (p.Thr441Ser)
c.488C>G (p.Thr163Ser)
gnomAD v4
16g.74636450G=CA2232905951RFWD3c.1322C= (p.Thr441=)
c.488C= (p.Thr163=)
16g.74636450G>TCA396761767RFWD3c.1322C>A (p.Thr441Asn)
c.488C>A (p.Thr163Asn)
16g.74636451T>ACA396761769RFWD3c.1321A>T (p.Thr441Ser)
c.487A>T (p.Thr163Ser)
16g.74636451T>CCA396761771RFWD3c.1321A>G (p.Thr441Ala)
c.487A>G (p.Thr163Ala)
16g.74636451T>GCA396761773RFWD3c.1321A>C (p.Thr441Pro)
c.487A>C (p.Thr163Pro)
16g.74636452C>ACA396761775RFWD3c.1320G>T (p.Lys440Asn)
c.486G>T (p.Lys162Asn)
16g.74636452C=CA2232905952RFWD3c.1320G= (p.Lys440=)
c.486G= (p.Lys162=)
16g.74636452C>GCA8169251RFWD3c.1320G>C (p.Lys440Asn)
c.486G>C (p.Lys162Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.74636452C>TCA8169250RFWD3c.1320G>A (p.Lys440=)
c.486G>A (p.Lys162=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.74636453T>ACA396761780RFWD3c.1319A>T (p.Lys440Met)
c.485A>T (p.Lys162Met)
16g.74636453T>CCA396761781RFWD3c.1319A>G (p.Lys440Arg)
c.485A>G (p.Lys162Arg)
gnomAD v4
16g.74636453T>GCA396761783RFWD3c.1319A>C (p.Lys440Thr)
c.485A>C (p.Lys162Thr)
16g.74636454T>ACA396761786RFWD3c.1318A>T (p.Lys440Ter)
c.484A>T (p.Lys162Ter)
16g.74636454T>CCA396761790RFWD3c.1318A>G (p.Lys440Glu)
c.484A>G (p.Lys162Glu)
dbSNP gnomAD v2 gnomAD v4
16g.74636454T>GCA396761788RFWD3c.1318A>C (p.Lys440Gln)
c.484A>C (p.Lys162Gln)
16g.74636454T=CA2232905953RFWD3c.1318A= (p.Lys440=)
c.484A= (p.Lys162=)
16g.74636455T>ACA396761791RFWD3c.1317A>T (p.Gln439His)
c.483A>T (p.Gln161His)
16g.74636455T>CCA496542723RFWD3c.1317A>G (p.Gln439=)
c.483A>G (p.Gln161=)
dbSNP gnomAD v2 gnomAD v4
16g.74636455T>GCA396761792RFWD3c.1317A>C (p.Gln439His)
c.483A>C (p.Gln161His)
16g.74636455T=CA2232905954RFWD3c.1317A= (p.Gln439=)
c.483A= (p.Gln161=)
16g.74636456T>ACA396761795RFWD3c.1316A>T (p.Gln439Leu)
c.482A>T (p.Gln161Leu)
gnomAD v4
16g.74636456T>CCA8169252RFWD3c.1316A>G (p.Gln439Arg)
c.482A>G (p.Gln161Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.74636456T>GCA396761797RFWD3c.1316A>C (p.Gln439Pro)
c.482A>C (p.Gln161Pro)
16g.74636456T=CA2232905955RFWD3c.1316A= (p.Gln439=)
c.482A= (p.Gln161=)
16g.74636457G>ACA396761801RFWD3c.1315C>T (p.Gln439Ter)
c.481C>T (p.Gln161Ter)
16g.74636457G>CCA396761802RFWD3c.1315C>G (p.Gln439Glu)
c.481C>G (p.Gln161Glu)
16g.74636457G>TCA396761803RFWD3c.1315C>A (p.Gln439Lys)
c.481C>A (p.Gln161Lys)
16g.74636458G>ACA496542734RFWD3c.1314C>T (p.Phe438=)
c.480C>T (p.Phe160=)
16g.74636458G>CCA396761805RFWD3c.1314C>G (p.Phe438Leu)
c.480C>G (p.Phe160Leu)
16g.74636458G>TCA396761807RFWD3c.1314C>A (p.Phe438Leu)
c.480C>A (p.Phe160Leu)
16g.74636459A>CCA396761809RFWD3c.1313T>G (p.Phe438Cys)
c.479T>G (p.Phe160Cys)
16g.74636459A>GCA396761811RFWD3c.1313T>C (p.Phe438Ser)
c.479T>C (p.Phe160Ser)
16g.74636459A>TCA396761813RFWD3c.1313T>A (p.Phe438Tyr)
c.479T>A (p.Phe160Tyr)
16g.74636460A=CA2232905956RFWD3c.1312T= (p.Phe438=)
c.478T= (p.Phe160=)
16g.74636460A>CCA396761816RFWD3c.1312T>G (p.Phe438Val)
c.478T>G (p.Phe160Val)
16g.74636460A>GCA8169253RFWD3c.1312T>C (p.Phe438Leu)
c.478T>C (p.Phe160Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.74636460A>TCA396761815RFWD3c.1312T>A (p.Phe438Ile)
c.478T>A (p.Phe160Ile)
16g.74636461G>ACA496542744RFWD3c.1311C>T (p.His437=)
c.477C>T (p.His159=)
dbSNP gnomAD v3 gnomAD v4
16g.74636461G>CCA396761818RFWD3c.1311C>G (p.His437Gln)
c.477C>G (p.His159Gln)
16g.74636461G=CA2232905957RFWD3c.1311C= (p.His437=)
c.477C= (p.His159=)
16g.74636461G>TCA396761820RFWD3c.1311C>A (p.His437Gln)
c.477C>A (p.His159Gln)
16g.74636462T>ACA396761823RFWD3c.1310A>T (p.His437Leu)
c.476A>T (p.His159Leu)
16g.74636462T>CCA396761825RFWD3c.1310A>G (p.His437Arg)
c.476A>G (p.His159Arg)
16g.74636462T>GCA396761826RFWD3c.1310A>C (p.His437Pro)
c.476A>C (p.His159Pro)
16g.74636463G>ACA396761828RFWD3c.1309C>T (p.His437Tyr)
c.475C>T (p.His159Tyr)
16g.74636463G>CCA396761830RFWD3c.1309C>G (p.His437Asp)
c.475C>G (p.His159Asp)
gnomAD v4
16g.74636463G>TCA396761831RFWD3c.1309C>A (p.His437Asn)
c.475C>A (p.His159Asn)
16g.74636464G>ACA496542751RFWD3c.1308C>T (p.Tyr436=)
c.474C>T (p.Tyr158=)
16g.74636464G>CCA396761833RFWD3c.1308C>G (p.Tyr436Ter)
c.474C>G (p.Tyr158Ter)
16g.74636464G>TCA396761835RFWD3c.1308C>A (p.Tyr436Ter)
c.474C>A (p.Tyr158Ter)
gnomAD v4
16g.74636465T>ACA396761837RFWD3c.1307A>T (p.Tyr436Phe)
c.473A>T (p.Tyr158Phe)
16g.74636465T>CCA396761839RFWD3c.1307A>G (p.Tyr436Cys)
c.473A>G (p.Tyr158Cys)
gnomAD v4
16g.74636465T>GCA396761841RFWD3c.1307A>C (p.Tyr436Ser)
c.473A>C (p.Tyr158Ser)
16g.74636466A>CCA396761847RFWD3c.1306T>G (p.Tyr436Asp)
c.472T>G (p.Tyr158Asp)
16g.74636466A>GCA396761845RFWD3c.1306T>C (p.Tyr436His)
c.472T>C (p.Tyr158His)
16g.74636466A>TCA396761843RFWD3c.1306T>A (p.Tyr436Asn)
c.472T>A (p.Tyr158Asn)
16g.74636467C>ACA396761851RFWD3c.1305G>T (p.Lys435Asn)
c.471G>T (p.Lys157Asn)
16g.74636467C>GCA396761849RFWD3c.1305G>C (p.Lys435Asn)
c.471G>C (p.Lys157Asn)
16g.74636467C>TCA496542766RFWD3c.1305G>A (p.Lys435=)
c.471G>A (p.Lys157=)
16g.74636468T>ACA396761854RFWD3c.1304A>T (p.Lys435Met)
c.470A>T (p.Lys157Met)
16g.74636468T>CCA8169255RFWD3c.1304A>G (p.Lys435Arg)
c.470A>G (p.Lys157Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.74636468T>GCA8169254RFWD3c.1304A>C (p.Lys435Thr)
c.470A>C (p.Lys157Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.74636468T=CA2232905958RFWD3c.1304A= (p.Lys435=)
c.470A= (p.Lys157=)
16g.74636469T>ACA396761856RFWD3c.1303A>T (p.Lys435Ter)
c.469A>T (p.Lys157Ter)
gnomAD v4
16g.74636469T>CCA396761858RFWD3c.1303A>G (p.Lys435Glu)
c.469A>G (p.Lys157Glu)
16g.74636469T>GCA396761860RFWD3c.1303A>C (p.Lys435Gln)
c.469A>C (p.Lys157Gln)
16g.74636470G>ACA496542775RFWD3c.1302C>T (p.His434=)
c.468C>T (p.His156=)
16g.74636470G>CCA8169256RFWD3c.1302C>G (p.His434Gln)
c.468C>G (p.His156Gln)
dbSNP ExAC gnomAD v2
16g.74636470G=CA2232905959RFWD3c.1302C= (p.His434=)
c.468C= (p.His156=)
16g.74636470G>TCA396761863RFWD3c.1302C>A (p.His434Gln)
c.468C>A (p.His156Gln)
16g.74636471T>ACA396761866RFWD3c.1301A>T (p.His434Leu)
c.467A>T (p.His156Leu)
16g.74636471T>CCA396761868RFWD3c.1301A>G (p.His434Arg)
c.467A>G (p.His156Arg)
gnomAD v4
16g.74636471T>GCA396761869RFWD3c.1301A>C (p.His434Pro)
c.467A>C (p.His156Pro)
16g.74636472G>ACA396761876RFWD3c.1300C>T (p.His434Tyr)
c.466C>T (p.His156Tyr)
16g.74636472G>CCA396761874RFWD3c.1300C>G (p.His434Asp)
c.466C>G (p.His156Asp)
gnomAD v4
16g.74636472G>TCA396761872RFWD3c.1300C>A (p.His434Asn)
c.466C>A (p.His156Asn)
16g.74636473C>ACA396761878RFWD3c.1299G>T (p.Lys433Asn)
c.465G>T (p.Lys155Asn)
gnomAD v4
16g.74636473C>GCA396761880RFWD3c.1299G>C (p.Lys433Asn)
c.465G>C (p.Lys155Asn)
16g.74636473C>TCA496542785RFWD3c.1299G>A (p.Lys433=)
c.465G>A (p.Lys155=)
dbSNP
16g.74636474T>ACA396761882RFWD3c.1298A>T (p.Lys433Met)
c.464A>T (p.Lys155Met)
16g.74636474T>CCA396761884RFWD3c.1298A>G (p.Lys433Arg)
c.464A>G (p.Lys155Arg)
16g.74636474T>GCA396761886RFWD3c.1298A>C (p.Lys433Thr)
c.464A>C (p.Lys155Thr)
16g.74636475T>ACA396761887RFWD3c.1297A>T (p.Lys433Ter)
c.463A>T (p.Lys155Ter)
16g.74636475T>CCA8169257RFWD3c.1297A>G (p.Lys433Glu)
c.463A>G (p.Lys155Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.74636475T>GCA396761890RFWD3c.1297A>C (p.Lys433Gln)
c.463A>C (p.Lys155Gln)
dbSNP gnomAD v2
16g.74636475T=CA2232905960RFWD3c.1297A= (p.Lys433=)
c.463A= (p.Lys155=)
16g.74636476G>ACA496542797RFWD3c.1296C>T (p.His432=)
c.462C>T (p.His154=)
16g.74636476G>CCA396761893RFWD3c.1296C>G (p.His432Gln)
c.462C>G (p.His154Gln)
dbSNP gnomAD v2 gnomAD v4
16g.74636476G=CA2232905961RFWD3c.1296C= (p.His432=)
c.462C= (p.His154=)
16g.74636476G>TCA396761894RFWD3c.1296C>A (p.His432Gln)
c.462C>A (p.His154Gln)
16g.74636477T>ACA396761896RFWD3c.1295A>T (p.His432Leu)
c.461A>T (p.His154Leu)
16g.74636477T>CCA396761898RFWD3c.1295A>G (p.His432Arg)
c.461A>G (p.His154Arg)
16g.74636477T>GCA396761900RFWD3c.1295A>C (p.His432Pro)
c.461A>C (p.His154Pro)
16g.74636478G>ACA283745857RFWD3c.1294C>T (p.His432Tyr)
c.460C>T (p.His154Tyr)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.74636478G>CCA396761906RFWD3c.1294C>G (p.His432Asp)
c.460C>G (p.His154Asp)
16g.74636478G=CA2232905962RFWD3c.1294C= (p.His432=)
c.460C= (p.His154=)
16g.74636478G>TCA396761903RFWD3c.1294C>A (p.His432Asn)
c.460C>A (p.His154Asn)
16g.74636479C>ACA396761908RFWD3c.1293G>T (p.Gln431His)
c.459G>T (p.Gln153His)
16g.74636479C=CA2232905963RFWD3c.1293G= (p.Gln431=)
c.459G= (p.Gln153=)
16g.74636479C>GCA396761909RFWD3c.1293G>C (p.Gln431His)
c.459G>C (p.Gln153His)
16g.74636479C>TCA496542815RFWD3c.1293G>A (p.Gln431=)
c.459G>A (p.Gln153=)
dbSNP gnomAD v3 gnomAD v4 COSMIC
16g.74636480T>ACA396761910RFWD3c.1292A>T (p.Gln431Leu)
c.458A>T (p.Gln153Leu)
16g.74636480T>CCA396761912RFWD3c.1292A>G (p.Gln431Arg)
c.458A>G (p.Gln153Arg)
16g.74636480T>GCA396761914RFWD3c.1292A>C (p.Gln431Pro)
c.458A>C (p.Gln153Pro)
16g.74636481G>ACA396761917RFWD3c.1291C>T (p.Gln431Ter)
c.457C>T (p.Gln153Ter)
16g.74636481G>CCA396761919RFWD3c.1291C>G (p.Gln431Glu)
c.457C>G (p.Gln153Glu)
16g.74636481G>TCA396761921RFWD3c.1291C>A (p.Gln431Lys)
c.457C>A (p.Gln153Lys)
16g.74636482G>ACA496542829RFWD3c.1290C>T (p.Gly430=)
c.456C>T (p.Gly152=)
dbSNP gnomAD v3 gnomAD v4
16g.74636482G>CCA496542831RFWD3c.1290C>G (p.Gly430=)
c.456C>G (p.Gly152=)
16g.74636482G=CA2232905964RFWD3c.1290C= (p.Gly430=)
c.456C= (p.Gly152=)
16g.74636482G>TCA496542828RFWD3c.1290C>A (p.Gly430=)
c.456C>A (p.Gly152=)
16g.74636483C>ACA283745863RFWD3c.1289G>T (p.Gly430Val)
c.455G>T (p.Gly152Val)
dbSNP
16g.74636483C=CA2232905965RFWD3c.1289G= (p.Gly430=)
c.455G= (p.Gly152=)
16g.74636483C>GCA396761924RFWD3c.1289G>C (p.Gly430Ala)
c.455G>C (p.Gly152Ala)
16g.74636483C>TCA283745866RFWD3c.1289G>A (p.Gly430Asp)
c.455G>A (p.Gly152Asp)
dbSNP gnomAD v4
16g.74636484C>ACA396761927RFWD3c.1288G>T (p.Gly430Cys)
c.454G>T (p.Gly152Cys)
16g.74636484C=CA2232905966RFWD3c.1288G= (p.Gly430=)
c.454G= (p.Gly152=)
16g.74636484C>GCA396761928RFWD3c.1288G>C (p.Gly430Arg)
c.454G>C (p.Gly152Arg)
16g.74636484C>TCA8169258RFWD3c.1288G>A (p.Gly430Ser)
c.454G>A (p.Gly152Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.74636484_74636500delinsCCTGGCTGGAGGGTGAGCA2232905967RFWD3c.1272_1288delinsCTCACCCTCCAGCCAGG (p.Cys424=)
c.438_454delinsCTCACCCTCCAGCCAGG (p.Cys146=)
16g.74636485C>ACA396761930RFWD3c.1287G>T (p.Gln429His)
c.453G>T (p.Gln151His)
16g.74636485C>GCA396761932RFWD3c.1287G>C (p.Gln429His)
c.453G>C (p.Gln151His)
16g.74636485C>TCA496542841RFWD3c.1287G>A (p.Gln429=)
c.453G>A (p.Gln151=)
16g.74636486_74636501delCA2232905968RFWD3c.1272_1287del (p.Cys424TrpfsTer?)
c.438_453del (p.Cys146TrpfsTer?)
dbSNP
16g.74636486T>ACA396761934RFWD3c.1286A>T (p.Gln429Leu)
c.452A>T (p.Gln151Leu)
16g.74636486T>CCA8169259RFWD3c.1286A>G (p.Gln429Arg)
c.452A>G (p.Gln151Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.74636486T>GCA396761937RFWD3c.1286A>C (p.Gln429Pro)
c.452A>C (p.Gln151Pro)
16g.74636486T=CA2232905969RFWD3c.1286A= (p.Gln429=)
c.452A= (p.Gln151=)
16g.74636487G>ACA396761939RFWD3c.1285C>T (p.Gln429Ter)
c.451C>T (p.Gln151Ter)
16g.74636487G>CCA396761941RFWD3c.1285C>G (p.Gln429Glu)
c.451C>G (p.Gln151Glu)
16g.74636487G>TCA396761943RFWD3c.1285C>A (p.Gln429Lys)
c.451C>A (p.Gln151Lys)
16g.74636488G>ACA496542851RFWD3c.1284C>T (p.Ser428=)
c.450C>T (p.Ser150=)
gnomAD v4
16g.74636488G>CCA396761946RFWD3c.1284C>G (p.Ser428Arg)
c.450C>G (p.Ser150Arg)
16g.74636488G>TCA396761947RFWD3c.1284C>A (p.Ser428Arg)
c.450C>A (p.Ser150Arg)
16g.74636489C>ACA396761950RFWD3c.1283G>T (p.Ser428Ile)
c.449G>T (p.Ser150Ile)
16g.74636489C>GCA396761951RFWD3c.1283G>C (p.Ser428Thr)
c.449G>C (p.Ser150Thr)
16g.74636489C>TCA396761953RFWD3c.1283G>A (p.Ser428Asn)
c.449G>A (p.Ser150Asn)
16g.74636490T>ACA396761957RFWD3c.1282A>T (p.Ser428Cys)
c.448A>T (p.Ser150Cys)
16g.74636490T>CCA396761959RFWD3c.1282A>G (p.Ser428Gly)
c.448A>G (p.Ser150Gly)
16g.74636490T>GCA396761955RFWD3c.1282A>C (p.Ser428Arg)
c.448A>C (p.Ser150Arg)
16g.74636491G>ACA496542865RFWD3c.1281C>T (p.Ser427=)
c.447C>T (p.Ser149=)
16g.74636491G>CCA496542867RFWD3c.1281C>G (p.Ser427=)
c.447C>G (p.Ser149=)
16g.74636491G>TCA496542869RFWD3c.1281C>A (p.Ser427=)
c.447C>A (p.Ser149=)
16g.74636492G>ACA396761962RFWD3c.1280C>T (p.Ser427Phe)
c.446C>T (p.Ser149Phe)
COSMIC
16g.74636492G>CCA396761964RFWD3c.1280C>G (p.Ser427Cys)
c.446C>G (p.Ser149Cys)
gnomAD v4
16g.74636492G>TCA396761966RFWD3c.1280C>A (p.Ser427Tyr)
c.446C>A (p.Ser149Tyr)
16g.74636493A>CCA396761968RFWD3c.1279T>G (p.Ser427Ala)
c.445T>G (p.Ser149Ala)
16g.74636493A>GCA396761970RFWD3c.1279T>C (p.Ser427Pro)
c.445T>C (p.Ser149Pro)
16g.74636493A>TCA396761972RFWD3c.1279T>A (p.Ser427Thr)
c.445T>A (p.Ser149Thr)
16g.74636494G>ACA496542878RFWD3c.1278C>T (p.Pro426=)
c.444C>T (p.Pro148=)
gnomAD v4
16g.74636494G>CCA496542881RFWD3c.1278C>G (p.Pro426=)
c.444C>G (p.Pro148=)
dbSNP gnomAD v2 gnomAD v4
16g.74636494G=CA2232905970RFWD3c.1278C= (p.Pro426=)
c.444C= (p.Pro148=)
16g.74636494G>TCA496542884RFWD3c.1278C>A (p.Pro426=)
c.444C>A (p.Pro148=)
16g.74636495G>ACA396761975RFWD3c.1277C>T (p.Pro426Leu)
c.443C>T (p.Pro148Leu)
dbSNP gnomAD v3 gnomAD v4
16g.74636495G>CCA396761976RFWD3c.1277C>G (p.Pro426Arg)
c.443C>G (p.Pro148Arg)
16g.74636495G=CA2232905971RFWD3c.1277C= (p.Pro426=)
c.443C= (p.Pro148=)
16g.74636495G>TCA396761978RFWD3c.1277C>A (p.Pro426His)
c.443C>A (p.Pro148His)
16g.74636496G>ACA396761980RFWD3c.1276C>T (p.Pro426Ser)
c.442C>T (p.Pro148Ser)
gnomAD v4
16g.74636496G>CCA396761982RFWD3c.1276C>G (p.Pro426Ala)
c.442C>G (p.Pro148Ala)
gnomAD v4
16g.74636496G>TCA396761984RFWD3c.1276C>A (p.Pro426Thr)
c.442C>A (p.Pro148Thr)
gnomAD v4
16g.74636497T>ACA496542892RFWD3c.1275A>T (p.Ser425=)
c.441A>T (p.Ser147=)
16g.74636497T>CCA8169260RFWD3c.1275A>G (p.Ser425=)
c.441A>G (p.Ser147=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.74636497T>GCA496542894RFWD3c.1275A>C (p.Ser425=)
c.441A>C (p.Ser147=)
16g.74636497T=CA2232905972RFWD3c.1275A= (p.Ser425=)
c.441A= (p.Ser147=)
16g.74636498delCA2634278647RFWD3c.1274del (p.Ser425TyrfsTer?)
c.440del (p.Ser147TyrfsTer?)
gnomAD v4
16g.74636498G>ACA396761990RFWD3c.1274C>T (p.Ser425Leu)
c.440C>T (p.Ser147Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.74636498G>CCA396761988RFWD3c.1274C>G (p.Ser425Ter)
c.440C>G (p.Ser147Ter)
16g.74636498G=CA2232905973RFWD3c.1274C= (p.Ser425=)
c.440C= (p.Ser147=)
16g.74636498G>TCA396761987RFWD3c.1274C>A (p.Ser425Ter)
c.440C>A (p.Ser147Ter)
gnomAD v4
16g.74636499A>CCA396761992RFWD3c.1273T>G (p.Ser425Ala)
c.439T>G (p.Ser147Ala)
16g.74636499A>GCA396761993RFWD3c.1273T>C (p.Ser425Pro)
c.439T>C (p.Ser147Pro)
16g.74636499A>TCA396761995RFWD3c.1273T>A (p.Ser425Thr)
c.439T>A (p.Ser147Thr)
16g.74636500G>ACA496542904RFWD3c.1272C>T (p.Cys424=)
c.438C>T (p.Cys146=)
gnomAD v4
16g.74636500G>CCA396761997RFWD3c.1272C>G (p.Cys424Trp)
c.438C>G (p.Cys146Trp)
dbSNP gnomAD v2 gnomAD v4
16g.74636500G=CA2232905974RFWD3c.1272C= (p.Cys424=)
c.438C= (p.Cys146=)
16g.74636500G>TCA396761998RFWD3c.1272C>A (p.Cys424Ter)
c.438C>A (p.Cys146Ter)
16g.74636501C>ACA396762001RFWD3c.1271G>T (p.Cys424Phe)
c.437G>T (p.Cys146Phe)
gnomAD v4
16g.74636501C>GCA396762002RFWD3c.1271G>C (p.Cys424Ser)
c.437G>C (p.Cys146Ser)
16g.74636501C>TCA396762003RFWD3c.1271G>A (p.Cys424Tyr)
c.437G>A (p.Cys146Tyr)
16g.74636502A>CCA396762005RFWD3c.1270T>G (p.Cys424Gly)
c.436T>G (p.Cys146Gly)
16g.74636502A>GCA396762006RFWD3c.1270T>C (p.Cys424Arg)
c.436T>C (p.Cys146Arg)
16g.74636502A>TCA396762007RFWD3c.1270T>A (p.Cys424Ser)
c.436T>A (p.Cys146Ser)
gnomAD v4
16g.74636503G>ACA496542919RFWD3c.1269C>T (p.Ser423=)
c.435C>T (p.Ser145=)
16g.74636503G>CCA396762009RFWD3c.1269C>G (p.Ser423Arg)
c.435C>G (p.Ser145Arg)
16g.74636503G>TCA396762011RFWD3c.1269C>A (p.Ser423Arg)
c.435C>A (p.Ser145Arg)
16g.74636504C>ACA396762015RFWD3c.1268G>T (p.Ser423Ile)
c.434G>T (p.Ser145Ile)
16g.74636504C=CA2232905975RFWD3c.1268G= (p.Ser423=)
c.434G= (p.Ser145=)
16g.74636504C>GCA396762017RFWD3c.1268G>C (p.Ser423Thr)
c.434G>C (p.Ser145Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.74636504C>TCA396762014RFWD3c.1268G>A (p.Ser423Asn)
c.434G>A (p.Ser145Asn)
16g.74636505T>ACA396762021RFWD3c.1267A>T (p.Ser423Cys)
c.433A>T (p.Ser145Cys)
16g.74636505T>CCA396762020RFWD3c.1267A>G (p.Ser423Gly)
c.433A>G (p.Ser145Gly)
16g.74636505T>GCA396762023RFWD3c.1267A>C (p.Ser423Arg)
c.433A>C (p.Ser145Arg)
16g.74636506C>ACA496542936RFWD3c.1266G>T (p.Leu422=)
c.432G>T (p.Leu144=)
16g.74636506C>GCA496542937RFWD3c.1266G>C (p.Leu422=)
c.432G>C (p.Leu144=)
16g.74636506C>TCA496542939RFWD3c.1266G>A (p.Leu422=)
c.432G>A (p.Leu144=)
16g.74636507A>CCA396762025RFWD3c.1265T>G (p.Leu422Arg)
c.431T>G (p.Leu144Arg)
16g.74636507A>GCA396762028RFWD3c.1265T>C (p.Leu422Pro)
c.431T>C (p.Leu144Pro)
16g.74636507A>TCA396762026RFWD3c.1265T>A (p.Leu422Gln)
c.431T>A (p.Leu144Gln)
16g.74636508G>ACA283745889RFWD3c.1264C>T (p.Leu422=)
c.430C>T (p.Leu144=)
dbSNP
16g.74636508G>CCA396762034RFWD3c.1264C>G (p.Leu422Val)
c.430C>G (p.Leu144Val)
16g.74636508G=CA2232905976RFWD3c.1264C= (p.Leu422=)
c.430C= (p.Leu144=)
16g.74636508G>TCA396762032RFWD3c.1264C>A (p.Leu422Met)
c.430C>A (p.Leu144Met)
16g.74636509G>ACA496542950RFWD3c.1263C>T (p.Val421=)
c.429C>T (p.Val143=)
dbSNP gnomAD v3 gnomAD v4
16g.74636509G>CCA496542954RFWD3c.1263C>G (p.Val421=)
c.429C>G (p.Val143=)
gnomAD v4
16g.74636509G=CA2232905977RFWD3c.1263C= (p.Val421=)
c.429C= (p.Val143=)
16g.74636509G>TCA496542956RFWD3c.1263C>A (p.Val421=)
c.429C>A (p.Val143=)
16g.74636510A=CA2232905978RFWD3c.1262T= (p.Val421=)
c.428T= (p.Val143=)
16g.74636510A>CCA396762036RFWD3c.1262T>G (p.Val421Gly)
c.428T>G (p.Val143Gly)
dbSNP gnomAD v3 gnomAD v4
16g.74636510A>GCA396762038RFWD3c.1262T>C (p.Val421Ala)
c.428T>C (p.Val143Ala)
16g.74636510A>TCA396762040RFWD3c.1262T>A (p.Val421Asp)
c.428T>A (p.Val143Asp)
16g.74636511C>ACA396762042RFWD3c.1261G>T (p.Val421Phe)
c.427G>T (p.Val143Phe)
16g.74636511C=CA2232905979RFWD3c.1261G= (p.Val421=)
c.427G= (p.Val143=)
16g.74636511C>GCA396762045RFWD3c.1261G>C (p.Val421Leu)
c.427G>C (p.Val143Leu)
16g.74636511C>TCA396762047RFWD3c.1261G>A (p.Val421Ile)
c.427G>A (p.Val143Ile)
dbSNP gnomAD v3 gnomAD v4
16g.74636512C>ACA396762049RFWD3c.1260G>T (p.Trp420Cys)
c.426G>T (p.Trp142Cys)
dbSNP gnomAD v4
16g.74636512C=CA2232905980RFWD3c.1260G= (p.Trp420=)
c.426G= (p.Trp142=)
16g.74636512C>GCA8169261RFWD3c.1260G>C (p.Trp420Cys)
c.426G>C (p.Trp142Cys)
dbSNP ExAC
16g.74636512C>TCA396762051RFWD3c.1260G>A (p.Trp420Ter)
c.426G>A (p.Trp142Ter)
16g.74636513C>ACA396762053RFWD3c.1259G>T (p.Trp420Leu)
c.425G>T (p.Trp142Leu)
16g.74636513C=CA2232905981RFWD3c.1259G= (p.Trp420=)
c.425G= (p.Trp142=)
16g.74636513C>GCA396762054RFWD3c.1259G>C (p.Trp420Ser)
c.425G>C (p.Trp142Ser)
16g.74636513C>TCA396762056RFWD3c.1259G>A (p.Trp420Ter)
c.425G>A (p.Trp142Ter)
dbSNP gnomAD v4
16g.74636514A=CA2232905982RFWD3c.1258T= (p.Trp420=)
c.424T= (p.Trp142=)
16g.74636514A>CCA8169262RFWD3c.1258T>G (p.Trp420Gly)
c.424T>G (p.Trp142Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.74636514A>GCA396762060RFWD3c.1258T>C (p.Trp420Arg)
c.424T>C (p.Trp142Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.74636514A>TCA396762058RFWD3c.1258T>A (p.Trp420Arg)
c.424T>A (p.Trp142Arg)
16g.74636515T>ACA496542981RFWD3c.1257A>T (p.Ala419=)
c.423A>T (p.Ala141=)
16g.74636515T>CCA496542984RFWD3c.1257A>G (p.Ala419=)
c.423A>G (p.Ala141=)
dbSNP gnomAD v2 gnomAD v4
16g.74636515T>GCA496542985RFWD3c.1257A>C (p.Ala419=)
c.423A>C (p.Ala141=)
dbSNP
16g.74636515T=CA2232905983RFWD3c.1257A= (p.Ala419=)
c.423A= (p.Ala141=)
16g.74636516G>ACA396762063RFWD3c.1256C>T (p.Ala419Val)
c.422C>T (p.Ala141Val)
16g.74636516G>CCA396762065RFWD3c.1256C>G (p.Ala419Gly)
c.422C>G (p.Ala141Gly)
16g.74636516G>TCA396762066RFWD3c.1256C>A (p.Ala419Glu)
c.422C>A (p.Ala141Glu)
16g.74636517C>ACA396762067RFWD3c.1255G>T (p.Ala419Ser)
c.421G>T (p.Ala141Ser)
16g.74636517C=CA2232905984RFWD3c.1255G= (p.Ala419=)
c.421G= (p.Ala141=)
16g.74636517C>GCA396762069RFWD3c.1255G>C (p.Ala419Pro)
c.421G>C (p.Ala141Pro)
16g.74636517C>TCA283745894RFWD3c.1255G>A (p.Ala419Thr)
c.421G>A (p.Ala141Thr)
dbSNP
16g.74636518T>ACA396762071RFWD3c.1254A>T (p.Gln418His)
c.420A>T (p.Gln140His)
16g.74636518T>CCA8169264RFWD3c.1254A>G (p.Gln418=)
c.420A>G (p.Gln140=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.74636518T>GCA8169263RFWD3c.1254A>C (p.Gln418His)
c.420A>C (p.Gln140His)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.74636518T=CA2232905985RFWD3c.1254A= (p.Gln418=)
c.420A= (p.Gln140=)
16g.74636519T>ACA396762073RFWD3c.1253A>T (p.Gln418Leu)
c.419A>T (p.Gln140Leu)
dbSNP gnomAD v2 gnomAD v4
16g.74636519T>CCA396762072RFWD3c.1253A>G (p.Gln418Arg)
c.419A>G (p.Gln140Arg)
16g.74636519T>GCA8169265RFWD3c.1253A>C (p.Gln418Pro)
c.419A>C (p.Gln140Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.74636519T=CA2232905986RFWD3c.1253A= (p.Gln418=)
c.419A= (p.Gln140=)
16g.74636520G>ACA396762076RFWD3c.1252C>T (p.Gln418Ter)
c.418C>T (p.Gln140Ter)
gnomAD v4
16g.74636520G>CCA396762078RFWD3c.1252C>G (p.Gln418Glu)
c.418C>G (p.Gln140Glu)
16g.74636520G>TCA396762080RFWD3c.1252C>A (p.Gln418Lys)
c.418C>A (p.Gln140Lys)
16g.74636521G>ACA8169266RFWD3c.1251C>T (p.Ser417=)
c.417C>T (p.Ser139=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.74636521G>CCA496543007RFWD3c.1251C>G (p.Ser417=)
c.417C>G (p.Ser139=)
16g.74636521G=CA2232905987RFWD3c.1251C= (p.Ser417=)
c.417C= (p.Ser139=)
16g.74636521G>TCA496543009RFWD3c.1251C>A (p.Ser417=)
c.417C>A (p.Ser139=)
16g.74636522G>ACA396762082RFWD3c.1250C>T (p.Ser417Phe)
c.416C>T (p.Ser139Phe)
dbSNP gnomAD v2 gnomAD v4
16g.74636522G>CCA396762084RFWD3c.1250C>G (p.Ser417Cys)
c.416C>G (p.Ser139Cys)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.74636522G=CA2232905988RFWD3c.1250C= (p.Ser417=)
c.416C= (p.Ser139=)
16g.74636522G>TCA396762086RFWD3c.1250C>A (p.Ser417Tyr)
c.416C>A (p.Ser139Tyr)
16g.74636523A>CCA396762088RFWD3c.1249T>G (p.Ser417Ala)
c.415T>G (p.Ser139Ala)
16g.74636523A>GCA396762090RFWD3c.1249T>C (p.Ser417Pro)
c.415T>C (p.Ser139Pro)
16g.74636523A>TCA396762092RFWD3c.1249T>A (p.Ser417Thr)
c.415T>A (p.Ser139Thr)
16g.74636524delCA2634278648RFWD3c.1248del (p.Ser417ProfsTer6)
c.414del (p.Ser139ProfsTer6)
gnomAD v4
16g.74636524G>ACA496543023RFWD3c.1248C>T (p.Gly416=)
c.414C>T (p.Gly138=)
dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.74636524G>CCA496543026RFWD3c.1248C>G (p.Gly416=)
c.414C>G (p.Gly138=)
16g.74636524G=CA2232905989RFWD3c.1248C= (p.Gly416=)
c.414C= (p.Gly138=)
16g.74636524G>TCA496543022RFWD3c.1248C>A (p.Gly416=)
c.414C>A (p.Gly138=)
16g.74636525C>ACA396762094RFWD3c.1247G>T (p.Gly416Val)
c.413G>T (p.Gly138Val)
dbSNP gnomAD v2 gnomAD v4
16g.74636525C=CA2232905990RFWD3c.1247G= (p.Gly416=)
c.413G= (p.Gly138=)
16g.74636525C>GCA396762095RFWD3c.1247G>C (p.Gly416Ala)
c.413G>C (p.Gly138Ala)
16g.74636525C>TCA396762097RFWD3c.1247G>A (p.Gly416Asp)
c.413G>A (p.Gly138Asp)
gnomAD v4
16g.74636528dupCA2634278649RFWD3c.1247dup (p.Ser417LeufsTer?)
c.413dup (p.Ser139LeufsTer?)
gnomAD v4
16g.74636526C>ACA396762099RFWD3c.1246G>T (p.Gly416Cys)
c.412G>T (p.Gly138Cys)
16g.74636526C>GCA396762103RFWD3c.1246G>C (p.Gly416Arg)
c.412G>C (p.Gly138Arg)
16g.74636526C>TCA396762101RFWD3c.1246G>A (p.Gly416Ser)
c.412G>A (p.Gly138Ser)
16g.74636527C>ACA396762106RFWD3c.1245G>T (p.Arg415Ser)
c.411G>T (p.Arg137Ser)
16g.74636527C>GCA396762107RFWD3c.1245G>C (p.Arg415Ser)
c.411G>C (p.Arg137Ser)
16g.74636527C>TCA496543041RFWD3c.1245G>A (p.Arg415=)
c.411G>A (p.Arg137=)
16g.74636528C>ACA396762109RFWD3c.1244G>T (p.Arg415Met)
c.410G>T (p.Arg137Met)
16g.74636528C=CA2232905991RFWD3c.1244G= (p.Arg415=)
c.410G= (p.Arg137=)
16g.74636528C>GCA396762111RFWD3c.1244G>C (p.Arg415Thr)
c.410G>C (p.Arg137Thr)
dbSNP gnomAD v2 gnomAD v4
16g.74636528C>TCA396762113RFWD3c.1244G>A (p.Arg415Lys)
c.410G>A (p.Arg137Lys)
dbSNP gnomAD v2 gnomAD v4
16g.74636529delCA2634278650RFWD3c.1243del (p.Arg415GlyfsTer8)
c.409del (p.Arg137GlyfsTer8)
gnomAD v4
16g.74636529T>ACA396762115RFWD3c.1243A>T (p.Arg415Trp)
c.409A>T (p.Arg137Trp)
16g.74636529T>CCA396762116RFWD3c.1243A>G (p.Arg415Gly)
c.409A>G (p.Arg137Gly)
gnomAD v4
16g.74636529T>GCA496543047RFWD3c.1243A>C (p.Arg415=)
c.409A>C (p.Arg137=)
16g.74636530G>ACA496543051RFWD3c.1242C>T (p.Pro414=)
c.408C>T (p.Pro136=)
16g.74636530G>CCA496543054RFWD3c.1242C>G (p.Pro414=)
c.408C>G (p.Pro136=)
16g.74636530G>TCA496543053RFWD3c.1242C>A (p.Pro414=)
c.408C>A (p.Pro136=)
16g.74636531G>ACA8169267RFWD3c.1241C>T (p.Pro414Leu)
c.407C>T (p.Pro136Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.74636531G>CCA396762118RFWD3c.1241C>G (p.Pro414Arg)
c.407C>G (p.Pro136Arg)
gnomAD v4
16g.74636531G=CA2232905992RFWD3c.1241C= (p.Pro414=)
c.407C= (p.Pro136=)
16g.74636531G>TCA396762119RFWD3c.1241C>A (p.Pro414His)
c.407C>A (p.Pro136His)

Number of alleles fetched