Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.17793597_17793605delCA2636388223RAI1c.649_657del (p.Pro217_Ser219del)
c.617-33_617-25del (n.617-33_617-25del)
 gnomAD v4
17g.17793597_17793600delinsCCCACA2250666381RAI1c.649_652delinsCCCA (p.Pro217=)
c.617-33_617-30delinsCCCA (n.617-33_617-30delinsCCCA)
17g.17793600_17793602delCA726622472RAI1c.652_654del (p.Thr218del)
c.617-30_617-28del (n.617-30_617-28del)
 dbSNP
17g.17793599C>ACA498422914RAI1c.651C>A (p.Pro217=)
c.617-31C>A (n.617-31C>A)
 dbSNP gnomAD v3 gnomAD v4
17g.17793599C=CA2250666396RAI1c.651C= (p.Pro217=)
c.617-31C= (n.617-31C=)
17g.17793599C>GCA498422915RAI1c.651C>G (p.Pro217=)
c.617-31C>G (n.617-31C>G)
 dbSNP gnomAD v2 gnomAD v4
17g.17793599C>TCA498422916RAI1c.651C>T (p.Pro217=)
c.617-31C>T (n.617-31C>T)
 ClinVar dbSNP
17g.17793600A=CA2250666403RAI1c.652A= (p.Thr218=)
c.617-30A= (n.617-30A=)
17g.17793600A>CCA8418164RAI1c.652A>C (p.Thr218Pro)
c.617-30A>C (n.617-30A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.17793600A>GCA398545929RAI1c.652A>G (p.Thr218Ala)
c.617-30A>G (n.617-30A>G)
17g.17793600A>TCA398545930RAI1c.652A>T (p.Thr218Ser)
c.617-30A>T (n.617-30A>T)
17g.17793601C>ACA398545931RAI1c.653C>A (p.Thr218Asn)
c.617-29C>A (n.617-29C>A)
 gnomAD v4
17g.17793601C=CA2250666408RAI1c.653C= (p.Thr218=)
c.617-29C= (n.617-29C=)
17g.17793601C>GCA398545932RAI1c.653C>G (p.Thr218Ser)
c.617-29C>G (n.617-29C>G)
17g.17793601C>TCA288367175RAI1c.653C>T (p.Thr218Ile)
c.617-29C>T (n.617-29C>T)
 dbSNP gnomAD v2 gnomAD v4
17g.17793602C>ACA8418165RAI1c.654C>A (p.Thr218=)
c.617-28C>A (n.617-28C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793602C=CA2250666414RAI1c.654C= (p.Thr218=)
c.617-28C= (n.617-28C=)
17g.17793602C>GCA498422923RAI1c.654C>G (p.Thr218=)
c.617-28C>G (n.617-28C>G)
 gnomAD v4
17g.17793602C>TCA498422924RAI1c.654C>T (p.Thr218=)
c.617-28C>T (n.617-28C>T)
 gnomAD v4
17g.17793603T>ACA398545933RAI1c.655T>A (p.Ser219Thr)
c.617-27T>A (n.617-27T>A)
17g.17793603T>CCA398545935RAI1c.655T>C (p.Ser219Pro)
c.617-27T>C (n.617-27T>C)
 ClinVar dbSNP
17g.17793603T>GCA398545934RAI1c.655T>G (p.Ser219Ala)
c.617-27T>G (n.617-27T>G)
17g.17793604C>ACA398545936RAI1c.656C>A (p.Ser219Tyr)
c.617-26C>A (n.617-26C>A)
17g.17793604C=CA2250666418RAI1c.656C= (p.Ser219=)
c.617-26C= (n.617-26C=)
17g.17793604C>GCA398545937RAI1c.656C>G (p.Ser219Cys)
c.617-26C>G (n.617-26C>G)
 dbSNP gnomAD v4
17g.17793604C>TCA398545938RAI1c.656C>T (p.Ser219Phe)
c.617-26C>T (n.617-26C>T)
17g.17793605C>ACA498422934RAI1c.657C>A (p.Ser219=)
c.617-25C>A (n.617-25C>A)
17g.17793605C>GCA498422933RAI1c.657C>G (p.Ser219=)
c.617-25C>G (n.617-25C>G)
17g.17793605C>TCA498422932RAI1c.657C>T (p.Ser219=)
c.617-25C>T (n.617-25C>T)
 gnomAD v4
17g.17793609_17793617delCA2573153183RAI1c.661_669del (p.Thr221_Ser223del)
c.617-21_617-13del (n.617-21_617-13del)
 ClinVar dbSNP
17g.17793606T>ACA398545939RAI1c.658T>A (p.Ser220Thr)
c.617-24T>A (n.617-24T>A)
 gnomAD v4
17g.17793606T>CCA398545940RAI1c.658T>C (p.Ser220Pro)
c.617-24T>C (n.617-24T>C)
17g.17793606T>GCA398545941RAI1c.658T>G (p.Ser220Ala)
c.617-24T>G (n.617-24T>G)
17g.17793607C>ACA398545942RAI1c.659C>A (p.Ser220Tyr)
c.617-23C>A (n.617-23C>A)
17g.17793607C>GCA398545943RAI1c.659C>G (p.Ser220Cys)
c.617-23C>G (n.617-23C>G)
 ClinVar
17g.17793607C>TCA398545944RAI1c.659C>T (p.Ser220Phe)
c.617-23C>T (n.617-23C>T)
 ClinVar
17g.17793608C>ACA498422939RAI1c.660C>A (p.Ser220=)
c.617-22C>A (n.617-22C>A)
17g.17793608C=CA2250666428RAI1c.660C= (p.Ser220=)
c.617-22C= (n.617-22C=)
17g.17793608C>GCA498422940RAI1c.660C>G (p.Ser220=)
c.617-22C>G (n.617-22C>G)
17g.17793608C>TCA243536RAI1c.660C>T (p.Ser220=)
c.617-22C>T (n.617-22C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793609A=CA2250666434RAI1c.661A= (p.Thr221=)
c.617-21A= (n.617-21A=)
17g.17793609A>CCA398545945RAI1c.661A>C (p.Thr221Pro)
c.617-21A>C (n.617-21A>C)
17g.17793609A>GCA398545946RAI1c.661A>G (p.Thr221Ala)
c.617-21A>G (n.617-21A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.17793609A>TCA398545947RAI1c.661A>T (p.Thr221Ser)
c.617-21A>T (n.617-21A>T)
17g.17793609_17793623dupCA2250666432RAI1c.661_675dup (p.Ser225_Val226insThrTyrSerSerSer)
c.617-21_617-7dup (n.617-21_617-7dup)
 dbSNP
17g.17793610C>ACA398545948RAI1c.662C>A (p.Thr221Asn)
c.617-20C>A (n.617-20C>A)
17g.17793610C>GCA398545950RAI1c.662C>G (p.Thr221Ser)
c.617-20C>G (n.617-20C>G)
17g.17793610C>TCA398545949RAI1c.662C>T (p.Thr221Ile)
c.617-20C>T (n.617-20C>T)
17g.17793611C>ACA288367180RAI1c.663C>A (p.Thr221=)
c.617-19C>A (n.617-19C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.17793611C=CA2250666437RAI1c.663C= (p.Thr221=)
c.617-19C= (n.617-19C=)
17g.17793611C>GCA498422945RAI1c.663C>G (p.Thr221=)
c.617-19C>G (n.617-19C>G)
17g.17793611C>TCA498422948RAI1c.663C>T (p.Thr221=)
c.617-19C>T (n.617-19C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.17793613_17793615dupCA2576187124RAI1c.665_667dup (p.Tyr222_Ser223insTyr)
c.617-17_617-15dup (n.617-17_617-15dup)
17g.17793612T>ACA398545951RAI1c.664T>A (p.Tyr222Asn)
c.617-18T>A (n.617-18T>A)
17g.17793612T>CCA398545952RAI1c.664T>C (p.Tyr222His)
c.617-18T>C (n.617-18T>C)
17g.17793612T>GCA398545953RAI1c.664T>G (p.Tyr222Asp)
c.617-18T>G (n.617-18T>G)
17g.17793613A=CA2250666442RAI1c.665A= (p.Tyr222=)
c.617-17A= (n.617-17A=)
17g.17793613A>CCA398545954RAI1c.665A>C (p.Tyr222Ser)
c.617-17A>C (n.617-17A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.17793613A>GCA398545955RAI1c.665A>G (p.Tyr222Cys)
c.617-17A>G (n.617-17A>G)
17g.17793613A>TCA398545956RAI1c.665A>T (p.Tyr222Phe)
c.617-17A>T (n.617-17A>T)
17g.17793613_17793616delinsACTCCA2250666443RAI1c.665_668delinsACTC (p.Tyr222=)
c.617-17_617-14delinsACTC (n.617-17_617-14delinsACTC)
17g.17793614C>ACA398545957RAI1c.666C>A (p.Tyr222Ter)
c.617-16C>A (n.617-16C>A)
17g.17793614C=CA2250666453RAI1c.666C= (p.Tyr222=)
c.617-16C= (n.617-16C=)
17g.17793614C>GCA398545958RAI1c.666C>G (p.Tyr222Ter)
c.617-16C>G (n.617-16C>G)
17g.17793614C>TCA8418167RAI1c.666C>T (p.Tyr222=)
c.617-16C>T (n.617-16C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793620_17793622dupCA915949614RAI1c.672_674dup (p.Ser225_Val226insSer)
c.617-10_617-8dup (n.617-10_617-8dup)
 ClinVar dbSNP
17g.17793620_17793622delCA8418166RAI1c.672_674del (p.Ser225del)
c.617-10_617-8del (n.617-10_617-8del)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.17793615T>ACA398545961RAI1c.667T>A (p.Ser223Thr)
c.617-15T>A (n.617-15T>A)
 ClinVar dbSNP
17g.17793615T>CCA398545960RAI1c.667T>C (p.Ser223Pro)
c.617-15T>C (n.617-15T>C)
17g.17793615T>GCA398545959RAI1c.667T>G (p.Ser223Ala)
c.617-15T>G (n.617-15T>G)
17g.17793615T=CA2250666461RAI1c.667T= (p.Ser223=)
c.617-15T= (n.617-15T=)
17g.17793616C>ACA398545962RAI1c.668C>A (p.Ser223Tyr)
c.617-14C>A (n.617-14C>A)
 ClinVar
17g.17793616C=CA2250666465RAI1c.668C= (p.Ser223=)
c.617-14C= (n.617-14C=)
17g.17793616C>GCA8418168RAI1c.668C>G (p.Ser223Cys)
c.617-14C>G (n.617-14C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.17793616C>TCA398545963RAI1c.668C>T (p.Ser223Phe)
c.617-14C>T (n.617-14C>T)
17g.17793617C>ACA498422963RAI1c.669C>A (p.Ser223=)
c.617-13C>A (n.617-13C>A)
17g.17793617C=CA2250666473RAI1c.669C= (p.Ser223=)
c.617-13C= (n.617-13C=)
17g.17793617C>GCA498422964RAI1c.669C>G (p.Ser223=)
c.617-13C>G (n.617-13C>G)
 gnomAD v4
17g.17793617C>TCA498422965RAI1c.669C>T (p.Ser223=)
c.617-13C>T (n.617-13C>T)
 dbSNP gnomAD v2 gnomAD v4
17g.17793618T>ACA398545964RAI1c.670T>A (p.Ser224Thr)
c.617-12T>A (n.617-12T>A)
 gnomAD v4
17g.17793618T>CCA398545966RAI1c.670T>C (p.Ser224Pro)
c.617-12T>C (n.617-12T>C)
17g.17793618T>GCA398545965RAI1c.670T>G (p.Ser224Ala)
c.617-12T>G (n.617-12T>G)
17g.17793619C>ACA398545967RAI1c.671C>A (p.Ser224Tyr)
c.617-11C>A (n.617-11C>A)
17g.17793619C=CA2250666483RAI1c.671C= (p.Ser224=)
c.617-11C= (n.617-11C=)
17g.17793619C>GCA398545969RAI1c.671C>G (p.Ser224Cys)
c.617-11C>G (n.617-11C>G)
17g.17793619C>TCA398545968RAI1c.671C>T (p.Ser224Phe)
c.617-11C>T (n.617-11C>T)
 dbSNP COSMIC COSMIC
17g.17793620C>ACA498422974RAI1c.672C>A (p.Ser224=)
c.617-10C>A (n.617-10C>A)
17g.17793620C=CA2250666488RAI1c.672C= (p.Ser224=)
c.617-10C= (n.617-10C=)
17g.17793620C>GCA498422972RAI1c.672C>G (p.Ser224=)
c.617-10C>G (n.617-10C>G)
17g.17793620C>TCA498422970RAI1c.672C>T (p.Ser224=)
c.617-10C>T (n.617-10C>T)
 dbSNP gnomAD v2
17g.17793621T>ACA288367190RAI1c.673T>A (p.Ser225Thr)
c.617-9T>A (n.617-9T>A)
 dbSNP
17g.17793621T>CCA398545971RAI1c.673T>C (p.Ser225Pro)
c.617-9T>C (n.617-9T>C)
17g.17793621T>GCA398545970RAI1c.673T>G (p.Ser225Ala)
c.617-9T>G (n.617-9T>G)
17g.17793621T=CA2250666510RAI1c.673T= (p.Ser225=)
c.617-9T= (n.617-9T=)
17g.17793622C>ACA398545972RAI1c.674C>A (p.Ser225Tyr)
c.617-8C>A (n.617-8C>A)
17g.17793622C=CA2250666513RAI1c.674C= (p.Ser225=)
c.617-8C= (n.617-8C=)
17g.17793622C>GCA398545973RAI1c.674C>G (p.Ser225Cys)
c.617-8C>G (n.617-8C>G)
17g.17793622C>TCA398545974RAI1c.674C>T (p.Ser225Phe)
c.617-8C>T (n.617-8C>T)
 dbSNP
17g.17793623T>ACA498422976RAI1c.675T>A (p.Ser225=)
c.617-7T>A (n.617-7T>A)
17g.17793623T>CCA498422977RAI1c.675T>C (p.Ser225=)
c.617-7T>C (n.617-7T>C)
 dbSNP
17g.17793623T>GCA498422978RAI1c.675T>G (p.Ser225=)
c.617-7T>G (n.617-7T>G)
17g.17793623T=CA2250666515RAI1c.675T= (p.Ser225=)
c.617-7T= (n.617-7T=)
17g.17793624G>ACA398545975RAI1c.676G>A (p.Val226Ile)
c.617-6G>A (n.617-6G>A)
17g.17793624G>CCA398545976RAI1c.676G>C (p.Val226Leu)
c.617-6G>C (n.617-6G>C)
17g.17793624G>TCA398545977RAI1c.676G>T (p.Val226Phe)
c.617-6G>T (n.617-6G>T)
17g.17793625T>ACA398545978RAI1c.677T>A (p.Val226Asp)
c.617-5T>A (n.617-5T>A)
17g.17793625T>CCA398545979RAI1c.677T>C (p.Val226Ala)
c.617-5T>C (n.617-5T>C)
17g.17793625T>GCA398545980RAI1c.677T>G (p.Val226Gly)
c.617-5T>G (n.617-5T>G)
17g.17793626C>ACA498422982RAI1c.678C>A (p.Val226=)
c.617-4C>A (n.617-4C>A)
17g.17793626C=CA2250666517RAI1c.678C= (p.Val226=)
c.617-4C= (n.617-4C=)
17g.17793626C>GCA498422984RAI1c.678C>G (p.Val226=)
c.617-4C>G (n.617-4C>G)
 dbSNP gnomAD v3 gnomAD v4
17g.17793626C>TCA498422983RAI1c.678C>T (p.Val226=)
c.617-4C>T (n.617-4C>T)
17g.17793627C>ACA398545981RAI1c.679C>A (p.Gln227Lys)
c.617-3C>A (n.617-3C>A)
17g.17793627C>GCA398545982RAI1c.679C>G (p.Gln227Glu)
c.617-3C>G (n.617-3C>G)
17g.17793627C>TCA398545983RAI1c.679C>T (p.Gln227Ter)
c.617-3C>T (n.617-3C>T)
17g.17793628A=CA2250666520RAI1c.680A= (p.Gln227=)
c.617-2A= (n.617-2A=)
17g.17793628A>CCA398545984RAI1c.680A>C (p.Gln227Pro)
c.617-2A>C (n.617-2A>C)
17g.17793628A>GCA288367193RAI1c.680A>G (p.Gln227Arg)
c.617-2A>G (n.617-2A>G)
 dbSNP gnomAD v2 gnomAD v4
17g.17793628A>TCA398545985RAI1c.680A>T (p.Gln227Leu)
c.617-2A>T (n.617-2A>T)
 gnomAD v4
17g.17793629G>ACA498422603RAI1c.681G>A (p.Gln227=)
c.617-1G>A (n.617-1G>A)
17g.17793629G>CCA398545986RAI1c.681G>C (p.Gln227His)
c.617-1G>C (n.617-1G>C)
17g.17793629G>TCA398545987RAI1c.681G>T (p.Gln227His)
c.617-1G>T (n.617-1G>T)
17g.17793630G>ACA398545988RAI1c.682G>A (p.Gly228Ser)
c.617G>A (p.Gly206Glu)
 ClinVar
17g.17793630G>CCA398545989RAI1c.682G>C (p.Gly228Arg)
c.617G>C (p.Gly206Ala)
17g.17793630G>TCA398545990RAI1c.682G>T (p.Gly228Cys)
c.617G>T (p.Gly206Val)
17g.17793631G>ACA398545991RAI1c.683G>A (p.Gly228Asp)
c.618G>A (p.Gly206=)
17g.17793631G>CCA398545992RAI1c.683G>C (p.Gly228Ala)
c.618G>C (p.Gly206=)
17g.17793631G>TCA398545993RAI1c.683G>T (p.Gly228Val)
c.618G>T (p.Gly206=)
 gnomAD v4
17g.17793632T>ACA498422605RAI1c.684T>A (p.Gly228=)
c.619T>A (p.Trp207Arg)
17g.17793632T>CCA498422608RAI1c.684T>C (p.Gly228=)
c.619T>C (p.Trp207Arg)
17g.17793632T>GCA498422606RAI1c.684T>G (p.Gly228=)
c.619T>G (p.Trp207Gly)
17g.17793633G>ACA398545996RAI1c.685G>A (p.Gly229Ser)
c.620G>A (p.Trp207Ter)
 gnomAD v4
17g.17793633G>CCA398545995RAI1c.685G>C (p.Gly229Arg)
c.620G>C (p.Trp207Ser)
17g.17793633G=CA2250666524RAI1c.685G= (p.Gly229=)
c.620G= (p.Trp207=)
17g.17793633G>TCA398545994RAI1c.685G>T (p.Gly229Cys)
c.620G>T (p.Trp207Leu)
 dbSNP gnomAD v3 gnomAD v4
17g.17793634G>ACA398545997RAI1c.686G>A (p.Gly229Asp)
c.621G>A (p.Trp207Ter)
 gnomAD v4
17g.17793634G>CCA398545998RAI1c.686G>C (p.Gly229Ala)
c.621G>C (p.Trp207Cys)
17g.17793634G=CA2250666531RAI1c.686G= (p.Gly229=)
c.621G= (p.Trp207=)
17g.17793634G>TCA8418169RAI1c.686G>T (p.Gly229Val)
c.621G>T (p.Trp207Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793635T>ACA498422610RAI1c.687T>A (p.Gly229=)
c.622T>A (p.Trp208Arg)
17g.17793635T>CCA498422611RAI1c.687T>C (p.Gly229=)
c.622T>C (p.Trp208Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.17793635T>GCA498422612RAI1c.687T>G (p.Gly229=)
c.622T>G (p.Trp208Gly)
17g.17793635T=CA2250666534RAI1c.687T= (p.Gly229=)
c.622T= (p.Trp208=)
17g.17793636G>ACA8418170RAI1c.688G>A (p.Gly230Arg)
c.623G>A (p.Trp208Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.17793636G>CCA398545999RAI1c.688G>C (p.Gly230Arg)
c.623G>C (p.Trp208Ser)
17g.17793636G=CA2250666536RAI1c.688G= (p.Gly230=)
c.623G= (p.Trp208=)
17g.17793636G>TCA398546000RAI1c.688G>T (p.Gly230Trp)
c.623G>T (p.Trp208Leu)
17g.17793637G>ACA398546001RAI1c.689G>A (p.Gly230Glu)
c.624G>A (p.Trp208Ter)
 dbSNP gnomAD v2 gnomAD v4
17g.17793637G>CCA398546002RAI1c.689G>C (p.Gly230Ala)
c.624G>C (p.Trp208Cys)
17g.17793637G=CA2250666539RAI1c.689G= (p.Gly230=)
c.624G= (p.Trp208=)
17g.17793637G>TCA398546003RAI1c.689G>T (p.Gly230Val)
c.624G>T (p.Trp208Cys)
17g.17793638G>ACA498422616RAI1c.690G>A (p.Gly230=)
c.625G>A (p.Ala209Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.17793638G>CCA498422617RAI1c.690G>C (p.Gly230=)
c.625G>C (p.Ala209Pro)
17g.17793638G=CA2250666543RAI1c.690G= (p.Gly230=)
c.625G= (p.Ala209=)
17g.17793638G>TCA498422618RAI1c.690G>T (p.Gly230=)
c.625G>T (p.Ala209Ser)
 dbSNP gnomAD v3 gnomAD v4
17g.17793639C>ACA398546004RAI1c.691C>A (p.Gln231Lys)
c.626C>A (p.Ala209Glu)
17g.17793639C>GCA398546005RAI1c.691C>G (p.Gln231Glu)
c.626C>G (p.Ala209Gly)
17g.17793639C>TCA398546006RAI1c.691C>T (p.Gln231Ter)
c.626C>T (p.Ala209Val)
17g.17793640A>CCA398546009RAI1c.692A>C (p.Gln231Pro)
c.627A>C (p.Ala209=)
17g.17793640A>GCA398546007RAI1c.692A>G (p.Gln231Arg)
c.627A>G (p.Ala209=)
 gnomAD v4
17g.17793640A>TCA398546008RAI1c.692A>T (p.Gln231Leu)
c.627A>T (p.Ala209=)
17g.17793641G>ACA498422623RAI1c.693G>A (p.Gln231=)
c.628G>A (p.Gly210Arg)
17g.17793641G>CCA398546010RAI1c.693G>C (p.Gln231His)
c.628G>C (p.Gly210Arg)
17g.17793641G>TCA398546011RAI1c.693G>T (p.Gln231His)
c.628G>T (p.Gly210Trp)
 gnomAD v4
17g.17793642G>ACA398546012RAI1c.694G>A (p.Gly232Arg)
c.629G>A (p.Gly210Glu)
 dbSNP gnomAD v2 gnomAD v4
17g.17793642G>CCA398546013RAI1c.694G>C (p.Gly232Arg)
c.629G>C (p.Gly210Ala)
17g.17793642G=CA2250666547RAI1c.694G= (p.Gly232=)
c.629G= (p.Gly210=)
17g.17793642G>TCA398546014RAI1c.694G>T (p.Gly232Trp)
c.629G>T (p.Gly210Val)
17g.17793643G>ACA398546015RAI1c.695G>A (p.Gly232Glu)
c.630G>A (p.Gly210=)
 dbSNP gnomAD v2 gnomAD v4
17g.17793643G>CCA398546016RAI1c.695G>C (p.Gly232Ala)
c.630G>C (p.Gly210=)
17g.17793643G=CA2250666552RAI1c.695G= (p.Gly232=)
c.630G= (p.Gly210=)
17g.17793643G>TCA398546017RAI1c.695G>T (p.Gly232Val)
c.630G>T (p.Gly210=)
17g.17793644G>ACA498422626RAI1c.696G>A (p.Gly232=)
c.631G>A (p.Gly211Ser)
17g.17793644G>CCA498422628RAI1c.696G>C (p.Gly232=)
c.631G>C (p.Gly211Arg)
17g.17793644G>TCA498422630RAI1c.696G>T (p.Gly232=)
c.631G>T (p.Gly211Cys)
17g.17793645G>ACA8418171RAI1c.697G>A (p.Ala233Thr)
c.632G>A (p.Gly211Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.17793645G>CCA398546018RAI1c.697G>C (p.Ala233Pro)
c.632G>C (p.Gly211Ala)
 gnomAD v4
17g.17793645G=CA2250666560RAI1c.697G= (p.Ala233=)
c.632G= (p.Gly211=)
17g.17793645G>TCA398546019RAI1c.697G>T (p.Ala233Ser)
c.632G>T (p.Gly211Val)
17g.17793645_17793646delinsGCCA2250666558RAI1c.697_698delinsGC (p.Ala233=)
c.632_633delinsGC (p.Gly211=)
17g.17793646C>ACA398546021RAI1c.698C>A (p.Ala233Asp)
c.633C>A (p.Gly211=)
17g.17793646C>GCA398546022RAI1c.698C>G (p.Ala233Gly)
c.633C>G (p.Gly211=)
17g.17793646C>TCA398546020RAI1c.698C>T (p.Ala233Val)
c.633C>T (p.Gly211=)
 gnomAD v4
17g.17793648delCA288367202RAI1c.700del (p.His234ThrfsTer18)
c.634del
 dbSNP
17g.17793647C>ACA498422632RAI1c.699C>A (p.Ala233=)
c.634-1C>A (n.634-1C>A)
17g.17793647C>GCA498422634RAI1c.699C>G (p.Ala233=)
c.634-1C>G (n.634-1C>G)
17g.17793647C>TCA498422635RAI1c.699C>T (p.Ala233=)
c.634-1C>T (n.634-1C>T)
17g.17793648C>ACA398546025RAI1c.700C>A (p.His234Asn)
c.634C>A (p.His212Asn)
17g.17793648C>GCA398546023RAI1c.700C>G (p.His234Asp)
c.634C>G (p.His212Asp)
 gnomAD v4
17g.17793648C>TCA398546024RAI1c.700C>T (p.His234Tyr)
c.634C>T (p.His212Tyr)
17g.17793649A=CA2250666565RAI1c.701A= (p.His234=)
c.635A= (p.His212=)
17g.17793649A>CCA398546026RAI1c.701A>C (p.His234Pro)
c.635A>C (p.His212Pro)
17g.17793649A>GCA8418172RAI1c.701A>G (p.His234Arg)
c.635A>G (p.His212Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.17793649A>TCA398546027RAI1c.701A>T (p.His234Leu)
c.635A>T (p.His212Leu)
17g.17793650C>ACA398546028RAI1c.702C>A (p.His234Gln)
c.636C>A (p.His212Gln)
17g.17793650C>GCA398546029RAI1c.702C>G (p.His234Gln)
c.636C>G (p.His212Gln)
17g.17793650C>TCA498422636RAI1c.702C>T (p.His234=)
c.636C>T (p.His212=)
17g.17793651T>ACA398546030RAI1c.703T>A (p.Ser235Thr)
c.637T>A (p.Ser213Thr)
17g.17793651T>CCA398546031RAI1c.703T>C (p.Ser235Pro)
c.637T>C (p.Ser213Pro)
17g.17793651T>GCA398546032RAI1c.703T>G (p.Ser235Ala)
c.637T>G (p.Ser213Ala)
17g.17793652C>ACA398546033RAI1c.704C>A (p.Ser235Tyr)
c.638C>A (p.Ser213Tyr)
17g.17793652C=CA2250666572RAI1c.704C= (p.Ser235=)
c.638C= (p.Ser213=)
17g.17793652C>GCA398546034RAI1c.704C>G (p.Ser235Cys)
c.638C>G (p.Ser213Cys)
 dbSNP gnomAD v2 gnomAD v4
17g.17793652C>TCA398546035RAI1c.704C>T (p.Ser235Phe)
c.638C>T (p.Ser213Phe)
17g.17793653C>ACA498422643RAI1c.705C>A (p.Ser235=)
c.639C>A (p.Ser213=)
17g.17793653C>GCA498422645RAI1c.705C>G (p.Ser235=)
c.639C>G (p.Ser213=)
17g.17793653C>TCA498422647RAI1c.705C>T (p.Ser235=)
c.639C>T (p.Ser213=)
 ClinVar gnomAD v4 COSMIC COSMIC
17g.17793654T>ACA398546036RAI1c.706T>A (p.Tyr236Asn)
c.640T>A (p.Tyr214Asn)
17g.17793654T>CCA398546038RAI1c.706T>C (p.Tyr236His)
c.640T>C (p.Tyr214His)
17g.17793654T>GCA398546037RAI1c.706T>G (p.Tyr236Asp)
c.640T>G (p.Tyr214Asp)
17g.17793655A=CA2250666578RAI1c.707A= (p.Tyr236=)
c.641A= (p.Tyr214=)
17g.17793655A>CCA398546039RAI1c.707A>C (p.Tyr236Ser)
c.641A>C (p.Tyr214Ser)
 ClinVar dbSNP
17g.17793655A>GCA398546040RAI1c.707A>G (p.Tyr236Cys)
c.641A>G (p.Tyr214Cys)
 ClinVar dbSNP gnomAD v4
17g.17793655A>TCA8418173RAI1c.707A>T (p.Tyr236Phe)
c.641A>T (p.Tyr214Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.17793656T>ACA398546041RAI1c.708T>A (p.Tyr236Ter)
c.642T>A (p.Tyr214Ter)
17g.17793656T>CCA498422650RAI1c.708T>C (p.Tyr236=)
c.642T>C (p.Tyr214=)
 gnomAD v4
17g.17793656T>GCA398546042RAI1c.708T>G (p.Tyr236Ter)
c.642T>G (p.Tyr214Ter)
17g.17793657A>CCA398546043RAI1c.709A>C (p.Lys237Gln)
c.643A>C (p.Lys215Gln)
17g.17793657A>GCA398546044RAI1c.709A>G (p.Lys237Glu)
c.643A>G (p.Lys215Glu)
17g.17793657A>TCA398546045RAI1c.709A>T (p.Lys237Ter)
c.643A>T (p.Lys215Ter)
17g.17793658A>CCA398546046RAI1c.710A>C (p.Lys237Thr)
c.644A>C (p.Lys215Thr)
17g.17793658A>GCA398546047RAI1c.710A>G (p.Lys237Arg)
c.644A>G (p.Lys215Arg)
17g.17793658A>TCA398546048RAI1c.710A>T (p.Lys237Met)
c.644A>T (p.Lys215Met)
17g.17793659G>ACA498422654RAI1c.711G>A (p.Lys237=)
c.645G>A (p.Lys215=)
17g.17793659G>CCA398546050RAI1c.711G>C (p.Lys237Asn)
c.645G>C (p.Lys215Asn)
17g.17793659G>TCA398546049RAI1c.711G>T (p.Lys237Asn)
c.645G>T (p.Lys215Asn)
 gnomAD v4
17g.17793660A>CCA398546051RAI1c.712A>C (p.Ser238Arg)
c.646A>C (p.Ser216Arg)
17g.17793660A>GCA398546052RAI1c.712A>G (p.Ser238Gly)
c.646A>G (p.Ser216Gly)
17g.17793660A>TCA398546053RAI1c.712A>T (p.Ser238Cys)
c.646A>T (p.Ser216Cys)
17g.17793661G>ACA398546054RAI1c.713G>A (p.Ser238Asn)
c.647G>A (p.Ser216Asn)
 gnomAD v4
17g.17793661G>CCA398546055RAI1c.713G>C (p.Ser238Thr)
c.647G>C (p.Ser216Thr)
17g.17793661G>TCA398546056RAI1c.713G>T (p.Ser238Ile)
c.647G>T (p.Ser216Ile)
17g.17793662T>ACA398546057RAI1c.714T>A (p.Ser238Arg)
c.648T>A (p.Ser216Arg)
17g.17793662T>CCA498422658RAI1c.714T>C (p.Ser238=)
c.648T>C (p.Ser216=)
 dbSNP
17g.17793662T>GCA398546058RAI1c.714T>G (p.Ser238Arg)
c.648T>G (p.Ser216Arg)
17g.17793662T=CA2250666587RAI1c.714T= (p.Ser238=)
c.648T= (p.Ser216=)
17g.17793663T>ACA398546059RAI1c.715T>A (p.Cys239Ser)
c.649T>A (p.Cys217Ser)
 gnomAD v4
17g.17793663T>CCA398546060RAI1c.715T>C (p.Cys239Arg)
c.649T>C (p.Cys217Arg)
17g.17793663T>GCA398546061RAI1c.715T>G (p.Cys239Gly)
c.649T>G (p.Cys217Gly)
17g.17793664G>ACA398546062RAI1c.716G>A (p.Cys239Tyr)
c.650G>A (p.Cys217Tyr)
 ClinVar
17g.17793664G>CCA398546063RAI1c.716G>C (p.Cys239Ser)
c.650G>C (p.Cys217Ser)
17g.17793664G=CA2250666591RAI1c.716G= (p.Cys239=)
c.650G= (p.Cys217=)
17g.17793664G>TCA288367208RAI1c.716G>T (p.Cys239Phe)
c.650G>T (p.Cys217Phe)
 dbSNP gnomAD v4
17g.17793665C>ACA398546065RAI1c.717C>A (p.Cys239Ter)
c.651C>A (p.Cys217Ter)
17g.17793665C>GCA398546064RAI1c.717C>G (p.Cys239Trp)
c.651C>G (p.Cys217Trp)
17g.17793665C>TCA498422664RAI1c.717C>T (p.Cys239=)
c.651C>T (p.Cys217=)
17g.17793666A>CCA398546066RAI1c.718A>C (p.Thr240Pro)
c.652A>C (p.Thr218Pro)
17g.17793666A>GCA398546067RAI1c.718A>G (p.Thr240Ala)
c.652A>G (p.Thr218Ala)
17g.17793666A>TCA398546068RAI1c.718A>T (p.Thr240Ser)
c.652A>T (p.Thr218Ser)
17g.17793667C>ACA398546069RAI1c.719C>A (p.Thr240Lys)
c.653C>A (p.Thr218Lys)
17g.17793667C=CA2250666596RAI1c.719C= (p.Thr240=)
c.653C= (p.Thr218=)
17g.17793667C>GCA398546070RAI1c.719C>G (p.Thr240Arg)
c.653C>G (p.Thr218Arg)
17g.17793667C>TCA180358RAI1c.719C>T (p.Thr240Ile)
c.653C>T (p.Thr218Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793668A=CA2250666605RAI1c.720A= (p.Thr240=)
c.654A= (p.Thr218=)
17g.17793668A>CCA498422668RAI1c.720A>C (p.Thr240=)
c.654A>C (p.Thr218=)
17g.17793668A>GCA288367213RAI1c.720A>G (p.Thr240=)
c.654A>G (p.Thr218=)
 dbSNP gnomAD v4
17g.17793668A>TCA498422669RAI1c.720A>T (p.Thr240=)
c.654A>T (p.Thr218=)
17g.17793669G>ACA398546071RAI1c.721G>A (p.Ala241Thr)
c.655G>A (p.Ala219Thr)
17g.17793669G>CCA398546072RAI1c.721G>C (p.Ala241Pro)
c.655G>C (p.Ala219Pro)
17g.17793669G>TCA398546073RAI1c.721G>T (p.Ala241Ser)
c.655G>T (p.Ala219Ser)
17g.17793670C>ACA398546074RAI1c.722C>A (p.Ala241Glu)
c.656C>A (p.Ala219Glu)
17g.17793670C>GCA398546075RAI1c.722C>G (p.Ala241Gly)
c.656C>G (p.Ala219Gly)
17g.17793670C>TCA398546076RAI1c.722C>T (p.Ala241Val)
c.656C>T (p.Ala219Val)
17g.17793671A>CCA498422673RAI1c.723A>C (p.Ala241=)
c.657A>C (p.Ala219=)
17g.17793671A>GCA498422674RAI1c.723A>G (p.Ala241=)
c.657A>G (p.Ala219=)
17g.17793671A>TCA498422675RAI1c.723A>T (p.Ala241=)
c.657A>T (p.Ala219=)
17g.17793671_17793685delinsACCGACTGCCCAGCCCA2250666611RAI1c.723_737delinsACCGACTGCCCAGCC (p.Ala241=)
c.657_671delinsACCGACTGCCCAGCC (p.Ala219=)
17g.17793672C>ACA398546077RAI1c.724C>A (p.Pro242Thr)
c.658C>A (p.Pro220Thr)
17g.17793672C=CA2250666621RAI1c.724C= (p.Pro242=)
c.658C= (p.Pro220=)
17g.17793672C>GCA398546078RAI1c.724C>G (p.Pro242Ala)
c.658C>G (p.Pro220Ala)
17g.17793672C>TCA8418175RAI1c.724C>T (p.Pro242Ser)
c.658C>T (p.Pro220Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793674_17793687delCA8418174RAI1c.726_739del (p.Thr243Ter)
c.660_673del (p.Thr221Ter)
 dbSNP ExAC gnomAD v2
17g.17793673C>ACA398546080RAI1c.725C>A (p.Pro242Gln)
c.659C>A (p.Pro220Gln)
17g.17793673C=CA2250666629RAI1c.725C= (p.Pro242=)
c.659C= (p.Pro220=)
17g.17793673C>GCA398546079RAI1c.725C>G (p.Pro242Arg)
c.659C>G (p.Pro220Arg)
17g.17793673C>TCA149347RAI1c.725C>T (p.Pro242Leu)
c.659C>T (p.Pro220Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793674G>ACA8418176RAI1c.726G>A (p.Pro242=)
c.660G>A (p.Pro220=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793674G>CCA498422679RAI1c.726G>C (p.Pro242=)
c.660G>C (p.Pro220=)
17g.17793674G=CA2250666639RAI1c.726G= (p.Pro242=)
c.660G= (p.Pro220=)
17g.17793674G>TCA498422681RAI1c.726G>T (p.Pro242=)
c.660G>T (p.Pro220=)
17g.17793675A>CCA398546081RAI1c.727A>C (p.Thr243Pro)
c.661A>C (p.Thr221Pro)
17g.17793675A>GCA398546082RAI1c.727A>G (p.Thr243Ala)
c.661A>G (p.Thr221Ala)
17g.17793675A>TCA398546083RAI1c.727A>T (p.Thr243Ser)
c.661A>T (p.Thr221Ser)
17g.17793676C>ACA398546084RAI1c.728C>A (p.Thr243Asn)
c.662C>A (p.Thr221Asn)
 gnomAD v4
17g.17793676C>GCA398546085RAI1c.728C>G (p.Thr243Ser)
c.662C>G (p.Thr221Ser)
17g.17793676C>TCA398546086RAI1c.728C>T (p.Thr243Ile)
c.662C>T (p.Thr221Ile)
17g.17793677T>ACA498422687RAI1c.729T>A (p.Thr243=)
c.663T>A (p.Thr221=)
17g.17793677T>CCA498422689RAI1c.729T>C (p.Thr243=)
c.663T>C (p.Thr221=)
17g.17793677T>GCA498422691RAI1c.729T>G (p.Thr243=)
c.663T>G (p.Thr221=)
17g.17793678G>ACA398546087RAI1c.730G>A (p.Ala244Thr)
c.664G>A (p.Ala222Thr)
17g.17793678G>CCA398546088RAI1c.730G>C (p.Ala244Pro)
c.664G>C (p.Ala222Pro)
17g.17793678G>TCA398546089RAI1c.730G>T (p.Ala244Ser)
c.664G>T (p.Ala222Ser)
17g.17793679C>ACA398546090RAI1c.731C>A (p.Ala244Asp)
c.665C>A (p.Ala222Asp)
 ClinVar
17g.17793679C>GCA398546091RAI1c.731C>G (p.Ala244Gly)
c.665C>G (p.Ala222Gly)
17g.17793679C>TCA398546092RAI1c.731C>T (p.Ala244Val)
c.665C>T (p.Ala222Val)
 gnomAD v4
17g.17793680C>ACA498422694RAI1c.732C>A (p.Ala244=)
c.666C>A (p.Ala222=)
17g.17793680C=CA2250666644RAI1c.732C= (p.Ala244=)
c.666C= (p.Ala222=)
17g.17793680C>GCA498422695RAI1c.732C>G (p.Ala244=)
c.666C>G (p.Ala222=)
17g.17793680C>TCA498422696RAI1c.732C>T (p.Ala244=)
c.666C>T (p.Ala222=)
 dbSNP gnomAD v2 gnomAD v4
17g.17793681C>ACA398546095RAI1c.733C>A (p.Gln245Lys)
c.667C>A (p.Gln223Lys)
17g.17793681C>GCA398546093RAI1c.733C>G (p.Gln245Glu)
c.667C>G (p.Gln223Glu)
17g.17793681C>TCA398546094RAI1c.733C>T (p.Gln245Ter)
c.667C>T (p.Gln223Ter)
17g.17793682A>CCA398546096RAI1c.734A>C (p.Gln245Pro)
c.668A>C (p.Gln223Pro)
17g.17793682A>GCA398546097RAI1c.734A>G (p.Gln245Arg)
c.668A>G (p.Gln223Arg)
 ClinVar
17g.17793682A>TCA398546098RAI1c.734A>T (p.Gln245Leu)
c.668A>T (p.Gln223Leu)
17g.17793683G>ACA498422704RAI1c.735G>A (p.Gln245=)
c.669G>A (p.Gln223=)
 gnomAD v4
17g.17793683G>CCA398546099RAI1c.735G>C (p.Gln245His)
c.669G>C (p.Gln223His)
17g.17793683G>TCA398546100RAI1c.735G>T (p.Gln245His)
c.669G>T (p.Gln223His)
17g.17793684C>ACA398546101RAI1c.736C>A (p.Pro246Thr)
c.670C>A (p.Pro224Thr)
17g.17793684C>GCA398546102RAI1c.736C>G (p.Pro246Ala)
c.670C>G (p.Pro224Ala)
17g.17793684C>TCA398546103RAI1c.736C>T (p.Pro246Ser)
c.670C>T (p.Pro224Ser)
 ClinVar dbSNP
17g.17793685C>ACA398546104RAI1c.737C>A (p.Pro246His)
c.671C>A (p.Pro224His)
 gnomAD v4
17g.17793685C>GCA398546105RAI1c.737C>G (p.Pro246Arg)
c.671C>G (p.Pro224Arg)
 gnomAD v4
17g.17793685C>TCA398546106RAI1c.737C>T (p.Pro246Leu)
c.671C>T (p.Pro224Leu)
 ClinVar
17g.17793686C>ACA498422716RAI1c.738C>A (p.Pro246=)
c.672C>A (p.Pro224=)
 ClinVar
17g.17793686C>GCA498422719RAI1c.738C>G (p.Pro246=)
c.672C>G (p.Pro224=)
17g.17793686C>TCA498422721RAI1c.738C>T (p.Pro246=)
c.672C>T (p.Pro224=)
17g.17793687C>ACA398546109RAI1c.739C>A (p.His247Asn)
c.673C>A (p.His225Asn)
17g.17793687C>GCA398546108RAI1c.739C>G (p.His247Asp)
c.673C>G (p.His225Asp)
17g.17793687C>TCA398546107RAI1c.739C>T (p.His247Tyr)
c.673C>T (p.His225Tyr)
17g.17793688A=CA2250666653RAI1c.740A= (p.His247=)
c.674A= (p.His225=)
17g.17793688A>CCA398546110RAI1c.740A>C (p.His247Pro)
c.674A>C (p.His225Pro)
 ClinVar dbSNP
17g.17793688A>GCA398546111RAI1c.740A>G (p.His247Arg)
c.674A>G (p.His225Arg)
 gnomAD v4
17g.17793688A>TCA398546112RAI1c.740A>T (p.His247Leu)
c.674A>T (p.His225Leu)
17g.17793689T>ACA398546113RAI1c.741T>A (p.His247Gln)
c.675T>A (p.His225Gln)
17g.17793689T>CCA288367223RAI1c.741T>C (p.His247=)
c.675T>C (p.His225=)
 dbSNP gnomAD v4
17g.17793689T>GCA398546114RAI1c.741T>G (p.His247Gln)
c.675T>G (p.His225Gln)
 gnomAD v4
17g.17793689T=CA2250666657RAI1c.741T= (p.His247=)
c.675T= (p.His225=)
17g.17793690G>ACA8418177RAI1c.742G>A (p.Asp248Asn)
c.676G>A (p.Asp226Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793690G>CCA398546115RAI1c.742G>C (p.Asp248His)
c.676G>C (p.Asp226His)
17g.17793690G=CA2250666662RAI1c.742G= (p.Asp248=)
c.676G= (p.Asp226=)
17g.17793690G>TCA398546116RAI1c.742G>T (p.Asp248Tyr)
c.676G>T (p.Asp226Tyr)
17g.17793691A=CA2250666666RAI1c.743A= (p.Asp248=)
c.677A= (p.Asp226=)
17g.17793691A>CCA398546117RAI1c.743A>C (p.Asp248Ala)
c.677A>C (p.Asp226Ala)
17g.17793691A>GCA398546118RAI1c.743A>G (p.Asp248Gly)
c.677A>G (p.Asp226Gly)
 dbSNP gnomAD v4
17g.17793691A>TCA398546119RAI1c.743A>T (p.Asp248Val)
c.677A>T (p.Asp226Val)
17g.17793692C>ACA398546120RAI1c.744C>A (p.Asp248Glu)
c.678C>A (p.Asp226Glu)
17g.17793692C=CA2250666671RAI1c.744C= (p.Asp248=)
c.678C= (p.Asp226=)
17g.17793692C>GCA398546121RAI1c.744C>G (p.Asp248Glu)
c.678C>G (p.Asp226Glu)
 gnomAD v4
17g.17793692C>TCA498422727RAI1c.744C>T (p.Asp248=)
c.678C>T (p.Asp226=)
 dbSNP gnomAD v2 gnomAD v4
17g.17793693A>CCA498422730RAI1c.745A>C (p.Arg249=)
c.679A>C (p.Arg227=)
17g.17793693A>GCA398546123RAI1c.745A>G (p.Arg249Gly)
c.679A>G (p.Arg227Gly)
17g.17793693A>TCA398546122RAI1c.745A>T (p.Arg249Trp)
c.679A>T (p.Arg227Trp)
17g.17793694G>ACA398546124RAI1c.746G>A (p.Arg249Lys)
c.680G>A (p.Arg227Lys)
17g.17793694G>CCA398546125RAI1c.746G>C (p.Arg249Thr)
c.680G>C (p.Arg227Thr)
17g.17793694G>TCA398546126RAI1c.746G>T (p.Arg249Met)
c.680G>T (p.Arg227Met)
 gnomAD v4
17g.17793695G>ACA498422732RAI1c.747G>A (p.Arg249=)
c.681G>A (p.Arg227=)
 dbSNP gnomAD v4
17g.17793695G>CCA398546127RAI1c.747G>C (p.Arg249Ser)
c.681G>C (p.Arg227Ser)
17g.17793695G=CA2250666674RAI1c.747G= (p.Arg249=)
c.681G= (p.Arg227=)
17g.17793695G>TCA398546128RAI1c.747G>T (p.Arg249Ser)
c.681G>T (p.Arg227Ser)
17g.17793696C>ACA398546129RAI1c.748C>A (p.Pro250Thr)
c.682C>A (p.Pro228Thr)
17g.17793696C=CA2250666677RAI1c.748C= (p.Pro250=)
c.682C= (p.Pro228=)
17g.17793696C>GCA288367224RAI1c.748C>G (p.Pro250Ala)
c.682C>G (p.Pro228Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.17793696C>TCA398546130RAI1c.748C>T (p.Pro250Ser)
c.682C>T (p.Pro228Ser)
17g.17793697C>ACA398546131RAI1c.749C>A (p.Pro250Gln)
c.683C>A (p.Pro228Gln)
 dbSNP gnomAD v3 gnomAD v4
17g.17793697C=CA2250666683RAI1c.749C= (p.Pro250=)
c.683C= (p.Pro228=)
17g.17793697C>GCA398546132RAI1c.749C>G (p.Pro250Arg)
c.683C>G (p.Pro228Arg)
 dbSNP gnomAD v2 gnomAD v4
17g.17793697C>TCA8418178RAI1c.749C>T (p.Pro250Leu)
c.683C>T (p.Pro228Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793698G>ACA8418179RAI1c.750G>A (p.Pro250=)
c.684G>A (p.Pro228=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793698G>CCA498422737RAI1c.750G>C (p.Pro250=)
c.684G>C (p.Pro228=)
 gnomAD v4
17g.17793698G=CA2250666688RAI1c.750G= (p.Pro250=)
c.684G= (p.Pro228=)
17g.17793698G>TCA498422736RAI1c.750G>T (p.Pro250=)
c.684G>T (p.Pro228=)
17g.17793699C>ACA398546133RAI1c.751C>A (p.Leu251Met)
c.685C>A (p.Leu229Met)
17g.17793699C=CA2250666690RAI1c.751C= (p.Leu251=)
c.685C= (p.Leu229=)
17g.17793699C>GCA8418180RAI1c.751C>G (p.Leu251Val)
c.685C>G (p.Leu229Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793699C>TCA8418181RAI1c.751C>T (p.Leu251=)
c.685C>T (p.Leu229=)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched