Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.101770977_101770980delinsGCTTCA2058958196GNPTABc.933+16_933+19delinsAAGC (n.933+16_933+19delinsAAGC)
c.852+16_852+19delinsAAGC (n.852+16_852+19delinsAAGC)
c.717+16_717+19delinsAAGC (n.717+16_717+19delinsAAGC)
c.-418+16_-418+19delinsAAGC (n.-418+16_-418+19delinsAAGC)
12g.101770980_101770982delCA2058958197GNPTABc.933+16_933+18del (n.933+16_933+18del)
c.852+16_852+18del (n.852+16_852+18del)
c.717+16_717+18del (n.717+16_717+18del)
c.-418+16_-418+18del (n.-418+16_-418+18del)
 dbSNP
12g.101770979T>GCA6746757GNPTABc.933+17A>C (n.933+17A>C)
c.852+17A>C (n.852+17A>C)
c.717+17A>C (n.717+17A>C)
c.-418+17A>C (n.-418+17A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770979T=CA2058958198GNPTABc.933+17A= (n.933+17A=)
c.852+17A= (n.852+17A=)
c.717+17A= (n.717+17A=)
c.-418+17A= (n.-418+17A=)
12g.101770980T>CCA2797214839GNPTABc.933+16A>G (n.933+16A>G)
c.852+16A>G (n.852+16A>G)
c.717+16A>G (n.717+16A>G)
c.-418+16A>G (n.-418+16A>G)
12g.101770982T>CCA2740092569GNPTABc.933+14A>G (n.933+14A>G)
c.852+14A>G (n.852+14A>G)
c.717+14A>G (n.717+14A>G)
c.-418+14A>G (n.-418+14A>G)
 ClinVar
12g.101770983G>ACA2575265113GNPTABc.933+13C>T (n.933+13C>T)
c.852+13C>T (n.852+13C>T)
c.717+13C>T (n.717+13C>T)
c.-418+13C>T (n.-418+13C>T)
 ClinVar gnomAD v4
12g.101770983G>CCA2797214840GNPTABc.933+13C>G (n.933+13C>G)
c.852+13C>G (n.852+13C>G)
c.717+13C>G (n.717+13C>G)
c.-418+13C>G (n.-418+13C>G)
12g.101770983G>TCA2551663713GNPTABc.933+13C>A (n.933+13C>A)
c.852+13C>A (n.852+13C>A)
c.717+13C>A (n.717+13C>A)
c.-418+13C>A (n.-418+13C>A)
12g.101770986C>TCA2573147971GNPTABc.933+10G>A (n.933+10G>A)
c.852+10G>A (n.852+10G>A)
c.717+10G>A (n.717+10G>A)
c.-418+10G>A (n.-418+10G>A)
 ClinVar dbSNP
12g.101770987A=CA2058958199GNPTABc.933+9T= (n.933+9T=)
c.852+9T= (n.852+9T=)
c.717+9T= (n.717+9T=)
c.-418+9T= (n.-418+9T=)
12g.101770987A>CCA6746758GNPTABc.933+9T>G (n.933+9T>G)
c.852+9T>G (n.852+9T>G)
c.717+9T>G (n.717+9T>G)
c.-418+9T>G (n.-418+9T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101770987A>GCA2726719561GNPTABc.933+9T>C (n.933+9T>C)
c.852+9T>C (n.852+9T>C)
c.717+9T>C (n.717+9T>C)
c.-418+9T>C (n.-418+9T>C)
 ClinVar dbSNP
12g.101770988T>ACA6746759GNPTABc.933+8A>T (n.933+8A>T)
c.852+8A>T (n.852+8A>T)
c.717+8A>T (n.717+8A>T)
c.-418+8A>T (n.-418+8A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101770988T>CCA607154389GNPTABc.933+8A>G (n.933+8A>G)
c.852+8A>G (n.852+8A>G)
c.717+8A>G (n.717+8A>G)
c.-418+8A>G (n.-418+8A>G)
 dbSNP gnomAD v2 gnomAD v4
12g.101770988T=CA2058958200GNPTABc.933+8A= (n.933+8A=)
c.852+8A= (n.852+8A=)
c.717+8A= (n.717+8A=)
c.-418+8A= (n.-418+8A=)
12g.101770989C>ACA6746760GNPTABc.933+7G>T (n.933+7G>T)
c.852+7G>T (n.852+7G>T)
c.717+7G>T (n.717+7G>T)
c.-418+7G>T (n.-418+7G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770989C=CA2058958201GNPTABc.933+7G= (n.933+7G=)
c.852+7G= (n.852+7G=)
c.717+7G= (n.717+7G=)
c.-418+7G= (n.-418+7G=)
12g.101770989C>GCA2058958202GNPTABc.933+7G>C (n.933+7G>C)
c.852+7G>C (n.852+7G>C)
c.717+7G>C (n.717+7G>C)
c.-418+7G>C (n.-418+7G>C)
 ClinVar dbSNP
12g.101770991delCA2620445201GNPTABc.933+7del (n.933+7del)
c.852+7del (n.852+7del)
c.717+7del (n.717+7del)
c.-418+7del (n.-418+7del)
 gnomAD v4
12g.101770991C>ACA2575265114GNPTABc.933+5G>T (n.933+5G>T)
c.852+5G>T (n.852+5G>T)
c.717+5G>T (n.717+5G>T)
c.-418+5G>T (n.-418+5G>T)
 gnomAD v4
12g.101770991C=CA2058958203GNPTABc.933+5G= (n.933+5G=)
c.852+5G= (n.852+5G=)
c.717+5G= (n.717+5G=)
c.-418+5G= (n.-418+5G=)
12g.101770991C>TCA6746761GNPTABc.933+5G>A (n.933+5G>A)
c.852+5G>A (n.852+5G>A)
c.717+5G>A (n.717+5G>A)
c.-418+5G>A (n.-418+5G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101770992T>CCA2620445213GNPTABc.933+4A>G (n.933+4A>G)
c.852+4A>G (n.852+4A>G)
c.717+4A>G (n.717+4A>G)
c.-418+4A>G (n.-418+4A>G)
 gnomAD v4
12g.101770994A>CCA386303410GNPTABc.933+2T>G (n.933+2T>G)
c.852+2T>G (n.852+2T>G)
c.717+2T>G (n.717+2T>G)
c.-418+2T>G (n.-418+2T>G)
12g.101770994A>GCA386303411GNPTABc.933+2T>C (n.933+2T>C)
c.852+2T>C (n.852+2T>C)
c.717+2T>C (n.717+2T>C)
c.-418+2T>C (n.-418+2T>C)
12g.101770994A>TCA386303412GNPTABc.933+2T>A (n.933+2T>A)
c.852+2T>A (n.852+2T>A)
c.717+2T>A (n.717+2T>A)
c.-418+2T>A (n.-418+2T>A)
12g.101770995C>ACA386303413GNPTABc.933+1G>T (n.933+1G>T)
c.852+1G>T (n.852+1G>T)
c.717+1G>T (n.717+1G>T)
c.-418+1G>T (n.-418+1G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.101770995C=CA2058958204GNPTABc.933+1G= (n.933+1G=)
c.852+1G= (n.852+1G=)
c.717+1G= (n.717+1G=)
c.-418+1G= (n.-418+1G=)
12g.101770995C>GCA386303414GNPTABc.933+1G>C (n.933+1G>C)
c.852+1G>C (n.852+1G>C)
c.717+1G>C (n.717+1G>C)
c.-418+1G>C (n.-418+1G>C)
12g.101770995C>TCA386303415GNPTABc.933+1G>A (n.933+1G>A)
c.852+1G>A (n.852+1G>A)
c.717+1G>A (n.717+1G>A)
c.-418+1G>A (n.-418+1G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.101770996C>ACA386303416GNPTABc.933G>T (p.Gln311His)
c.852G>T (p.Gln284His)
c.717G>T (p.Gln239His)
c.-418G>T (n.-418G>T)
12g.101770996C>GCA386303417GNPTABc.933G>C (p.Gln311His)
c.852G>C (p.Gln284His)
c.717G>C (p.Gln239His)
c.-418G>C (n.-418G>C)
12g.101770996C>TCA481321026GNPTABc.933G>A (p.Gln311=)
c.852G>A (p.Gln284=)
c.717G>A (p.Gln239=)
c.-418G>A (n.-418G>A)
 gnomAD v4
12g.101770997T>ACA386303418GNPTABc.932A>T (p.Gln311Leu)
c.851A>T (p.Gln284Leu)
c.716A>T (p.Gln239Leu)
c.-419A>T (n.-419A>T)
12g.101770997T>CCA6746762GNPTABc.932A>G (p.Gln311Arg)
c.851A>G (p.Gln284Arg)
c.716A>G (p.Gln239Arg)
c.-419A>G (n.-419A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101770997T>GCA386303419GNPTABc.932A>C (p.Gln311Pro)
c.851A>C (p.Gln284Pro)
c.716A>C (p.Gln239Pro)
c.-419A>C (n.-419A>C)
12g.101770997T=CA2058958205GNPTABc.932A= (p.Gln311=)
c.851A= (p.Gln284=)
c.716A= (p.Gln239=)
c.-419A= (n.-419A=)
12g.101770998G>ACA386303420GNPTABc.931C>T (p.Gln311Ter)
c.850C>T (p.Gln284Ter)
c.715C>T (p.Gln239Ter)
c.-420C>T (n.-420C>T)
 dbSNP
12g.101770998G>CCA386303421GNPTABc.931C>G (p.Gln311Glu)
c.850C>G (p.Gln284Glu)
c.715C>G (p.Gln239Glu)
c.-420C>G (n.-420C>G)
 dbSNP gnomAD v4
12g.101770998G=CA2058958206GNPTABc.931C= (p.Gln311=)
c.850C= (p.Gln284=)
c.715C= (p.Gln239=)
c.-420C= (n.-420C=)
12g.101770998G>TCA386303422GNPTABc.931C>A (p.Gln311Lys)
c.850C>A (p.Gln284Lys)
c.715C>A (p.Gln239Lys)
c.-420C>A (n.-420C>A)
12g.101770999G>ACA481321040GNPTABc.930C>T (p.Ser310=)
c.849C>T (p.Ser283=)
c.714C>T (p.Ser238=)
c.-421C>T (n.-421C>T)
12g.101770999G>CCA386303423GNPTABc.930C>G (p.Ser310Arg)
c.849C>G (p.Ser283Arg)
c.714C>G (p.Ser238Arg)
c.-421C>G (n.-421C>G)
12g.101770999G>TCA386303424GNPTABc.930C>A (p.Ser310Arg)
c.849C>A (p.Ser283Arg)
c.714C>A (p.Ser238Arg)
c.-421C>A (n.-421C>A)
12g.101771000C>ACA386303425GNPTABc.929G>T (p.Ser310Ile)
c.848G>T (p.Ser283Ile)
c.713G>T (p.Ser238Ile)
c.-422G>T (n.-422G>T)
12g.101771000C=CA2058958207GNPTABc.929G= (p.Ser310=)
c.848G= (p.Ser283=)
c.713G= (p.Ser238=)
c.-422G= (n.-422G=)
12g.101771000C>GCA242462869GNPTABc.929G>C (p.Ser310Thr)
c.848G>C (p.Ser283Thr)
c.713G>C (p.Ser238Thr)
c.-422G>C (n.-422G>C)
 dbSNP
12g.101771000C>TCA386303426GNPTABc.929G>A (p.Ser310Asn)
c.848G>A (p.Ser283Asn)
c.713G>A (p.Ser238Asn)
c.-422G>A (n.-422G>A)
 gnomAD v4
12g.101771001T>ACA386303427GNPTABc.928A>T (p.Ser310Cys)
c.847A>T (p.Ser283Cys)
c.712A>T (p.Ser238Cys)
c.-423A>T (n.-423A>T)
12g.101771001T>CCA6746763GNPTABc.928A>G (p.Ser310Gly)
c.847A>G (p.Ser283Gly)
c.712A>G (p.Ser238Gly)
c.-423A>G (n.-423A>G)
 dbSNP ExAC gnomAD v2
12g.101771001T>GCA386303428GNPTABc.928A>C (p.Ser310Arg)
c.847A>C (p.Ser283Arg)
c.712A>C (p.Ser238Arg)
c.-423A>C (n.-423A>C)
12g.101771001T=CA2058958208GNPTABc.928A= (p.Ser310=)
c.847A= (p.Ser283=)
c.712A= (p.Ser238=)
c.-423A= (n.-423A=)
12g.101771002G>ACA481321052GNPTABc.927C>T (p.Ile309=)
c.846C>T (p.Ile282=)
c.711C>T (p.Ile237=)
c.-424C>T (n.-424C>T)
 gnomAD v4
12g.101771002G>CCA386303429GNPTABc.927C>G (p.Ile309Met)
c.846C>G (p.Ile282Met)
c.711C>G (p.Ile237Met)
c.-424C>G (n.-424C>G)
12g.101771002G>TCA481321055GNPTABc.927C>A (p.Ile309=)
c.846C>A (p.Ile282=)
c.711C>A (p.Ile237=)
c.-424C>A (n.-424C>A)
12g.101771003A>CCA386303432GNPTABc.926T>G (p.Ile309Ser)
c.845T>G (p.Ile282Ser)
c.710T>G (p.Ile237Ser)
c.-425T>G (n.-425T>G)
12g.101771003A>GCA386303430GNPTABc.926T>C (p.Ile309Thr)
c.845T>C (p.Ile282Thr)
c.710T>C (p.Ile237Thr)
c.-425T>C (n.-425T>C)
12g.101771003A>TCA386303431GNPTABc.926T>A (p.Ile309Asn)
c.845T>A (p.Ile282Asn)
c.710T>A (p.Ile237Asn)
c.-425T>A (n.-425T>A)
12g.101771004T>ACA386303433GNPTABc.925A>T (p.Ile309Phe)
c.844A>T (p.Ile282Phe)
c.709A>T (p.Ile237Phe)
c.-426A>T (n.-426A>T)
12g.101771004T>CCA386303434GNPTABc.925A>G (p.Ile309Val)
c.844A>G (p.Ile282Val)
c.709A>G (p.Ile237Val)
c.-426A>G (n.-426A>G)
 dbSNP gnomAD v2 gnomAD v4
12g.101771004T>GCA386303435GNPTABc.925A>C (p.Ile309Leu)
c.844A>C (p.Ile282Leu)
c.709A>C (p.Ile237Leu)
c.-426A>C (n.-426A>C)
12g.101771004T=CA2058958209GNPTABc.925A= (p.Ile309=)
c.844A= (p.Ile282=)
c.709A= (p.Ile237=)
c.-426A= (n.-426A=)
12g.101771005G>ACA481321069GNPTABc.924C>T (p.Ala308=)
c.843C>T (p.Ala281=)
c.708C>T (p.Ala236=)
c.-427C>T (n.-427C>T)
12g.101771005G>CCA481321077GNPTABc.924C>G (p.Ala308=)
c.843C>G (p.Ala281=)
c.708C>G (p.Ala236=)
c.-427C>G (n.-427C>G)
12g.101771005G>TCA481321075GNPTABc.924C>A (p.Ala308=)
c.843C>A (p.Ala281=)
c.708C>A (p.Ala236=)
c.-427C>A (n.-427C>A)
 ClinVar gnomAD v4
12g.101771006G>ACA386303438GNPTABc.923C>T (p.Ala308Val)
c.842C>T (p.Ala281Val)
c.707C>T (p.Ala236Val)
c.-428C>T (n.-428C>T)
 ClinVar
12g.101771006G>CCA386303437GNPTABc.923C>G (p.Ala308Gly)
c.842C>G (p.Ala281Gly)
c.707C>G (p.Ala236Gly)
c.-428C>G (n.-428C>G)
12g.101771006G>TCA386303436GNPTABc.923C>A (p.Ala308Asp)
c.842C>A (p.Ala281Asp)
c.707C>A (p.Ala236Asp)
c.-428C>A (n.-428C>A)
12g.101771007C>ACA386303439GNPTABc.922G>T (p.Ala308Ser)
c.841G>T (p.Ala281Ser)
c.706G>T (p.Ala236Ser)
c.-429G>T (n.-429G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101771007C=CA2058958210GNPTABc.922G= (p.Ala308=)
c.841G= (p.Ala281=)
c.706G= (p.Ala236=)
c.-429G= (n.-429G=)
12g.101771007C>GCA386303440GNPTABc.922G>C (p.Ala308Pro)
c.841G>C (p.Ala281Pro)
c.706G>C (p.Ala236Pro)
c.-429G>C (n.-429G>C)
12g.101771007C>TCA6746764GNPTABc.922G>A (p.Ala308Thr)
c.841G>A (p.Ala281Thr)
c.706G>A (p.Ala236Thr)
c.-429G>A (n.-429G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101771008G>ACA6746765GNPTABc.921C>T (p.Ser307=)
c.840C>T (p.Ser280=)
c.705C>T (p.Ser235=)
c.-430C>T (n.-430C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101771008G>CCA386303441GNPTABc.921C>G (p.Ser307Arg)
c.840C>G (p.Ser280Arg)
c.705C>G (p.Ser235Arg)
c.-430C>G (n.-430C>G)
 COSMIC COSMIC
12g.101771008G=CA2058958211GNPTABc.921C= (p.Ser307=)
c.840C= (p.Ser280=)
c.705C= (p.Ser235=)
c.-430C= (n.-430C=)
12g.101771008G>TCA386303442GNPTABc.921C>A (p.Ser307Arg)
c.840C>A (p.Ser280Arg)
c.705C>A (p.Ser235Arg)
c.-430C>A (n.-430C>A)
12g.101771009C>ACA386303443GNPTABc.920G>T (p.Ser307Ile)
c.839G>T (p.Ser280Ile)
c.704G>T (p.Ser235Ile)
c.-431G>T (n.-431G>T)
12g.101771009C>GCA386303445GNPTABc.920G>C (p.Ser307Thr)
c.839G>C (p.Ser280Thr)
c.704G>C (p.Ser235Thr)
c.-431G>C (n.-431G>C)
12g.101771009C>TCA386303444GNPTABc.920G>A (p.Ser307Asn)
c.839G>A (p.Ser280Asn)
c.704G>A (p.Ser235Asn)
c.-431G>A (n.-431G>A)
 gnomAD v4 COSMIC COSMIC
12g.101771010T>ACA386303446GNPTABc.919A>T (p.Ser307Cys)
c.838A>T (p.Ser280Cys)
c.703A>T (p.Ser235Cys)
c.-432A>T (n.-432A>T)
12g.101771010T>CCA386303447GNPTABc.919A>G (p.Ser307Gly)
c.838A>G (p.Ser280Gly)
c.703A>G (p.Ser235Gly)
c.-432A>G (n.-432A>G)
12g.101771010T>GCA386303448GNPTABc.919A>C (p.Ser307Arg)
c.838A>C (p.Ser280Arg)
c.703A>C (p.Ser235Arg)
c.-432A>C (n.-432A>C)
 gnomAD v4
12g.101771011C>ACA481321115GNPTABc.918G>T (p.Leu306=)
c.837G>T (p.Leu279=)
c.702G>T (p.Leu234=)
c.-433G>T (n.-433G>T)
12g.101771011C=CA2058958212GNPTABc.918G= (p.Leu306=)
c.837G= (p.Leu279=)
c.702G= (p.Leu234=)
c.-433G= (n.-433G=)
12g.101771011C>GCA481321116GNPTABc.918G>C (p.Leu306=)
c.837G>C (p.Leu279=)
c.702G>C (p.Leu234=)
c.-433G>C (n.-433G>C)
 dbSNP
12g.101771011C>TCA481321118GNPTABc.918G>A (p.Leu306=)
c.837G>A (p.Leu279=)
c.702G>A (p.Leu234=)
c.-433G>A (n.-433G>A)
 gnomAD v4
12g.101771012A>CCA386303449GNPTABc.917T>G (p.Leu306Arg)
c.836T>G (p.Leu279Arg)
c.701T>G (p.Leu234Arg)
c.-434T>G (n.-434T>G)
12g.101771012A>GCA386303450GNPTABc.917T>C (p.Leu306Pro)
c.836T>C (p.Leu279Pro)
c.701T>C (p.Leu234Pro)
c.-434T>C (n.-434T>C)
12g.101771012A>TCA386303451GNPTABc.917T>A (p.Leu306Gln)
c.836T>A (p.Leu279Gln)
c.701T>A (p.Leu234Gln)
c.-434T>A (n.-434T>A)
12g.101771013G>ACA481321124GNPTABc.916C>T (p.Leu306=)
c.835C>T (p.Leu279=)
c.700C>T (p.Leu234=)
c.-435C>T (n.-435C>T)
12g.101771013G>CCA386303452GNPTABc.916C>G (p.Leu306Val)
c.835C>G (p.Leu279Val)
c.700C>G (p.Leu234Val)
c.-435C>G (n.-435C>G)
12g.101771013G>TCA386303453GNPTABc.916C>A (p.Leu306Met)
c.835C>A (p.Leu279Met)
c.700C>A (p.Leu234Met)
c.-435C>A (n.-435C>A)
 gnomAD v4
12g.101771014A=CA2058958213GNPTABc.915T= (p.Asp305=)
c.834T= (p.Asp278=)
c.699T= (p.Asp233=)
c.-436T= (n.-436T=)
12g.101771014A>CCA242462890GNPTABc.915T>G (p.Asp305Glu)
c.834T>G (p.Asp278Glu)
c.699T>G (p.Asp233Glu)
c.-436T>G (n.-436T>G)
 dbSNP
12g.101771014A>GCA481321128GNPTABc.915T>C (p.Asp305=)
c.834T>C (p.Asp278=)
c.699T>C (p.Asp233=)
c.-436T>C (n.-436T>C)
12g.101771014A>TCA386303454GNPTABc.915T>A (p.Asp305Glu)
c.834T>A (p.Asp278Glu)
c.699T>A (p.Asp233Glu)
c.-436T>A (n.-436T>A)
12g.101771015T>ACA386303457GNPTABc.914A>T (p.Asp305Val)
c.833A>T (p.Asp278Val)
c.698A>T (p.Asp233Val)
c.-437A>T (n.-437A>T)
12g.101771015T>CCA386303456GNPTABc.914A>G (p.Asp305Gly)
c.833A>G (p.Asp278Gly)
c.698A>G (p.Asp233Gly)
c.-437A>G (n.-437A>G)
12g.101771015T>GCA386303455GNPTABc.914A>C (p.Asp305Ala)
c.833A>C (p.Asp278Ala)
c.698A>C (p.Asp233Ala)
c.-437A>C (n.-437A>C)
12g.101771015dupCA343417GNPTABc.914dup (p.Asp305GlufsTer9)
c.833dup (p.Asp278GlufsTer9)
c.698dup (p.Asp233GlufsTer9)
c.-437dup (n.-437dup)
 ClinVar dbSNP gnomAD v4
12g.101771016C>ACA386303460GNPTABc.913G>T (p.Asp305Tyr)
c.832G>T (p.Asp278Tyr)
c.697G>T (p.Asp233Tyr)
c.-438G>T (n.-438G>T)
12g.101771016C>GCA386303458GNPTABc.913G>C (p.Asp305His)
c.832G>C (p.Asp278His)
c.697G>C (p.Asp233His)
c.-438G>C (n.-438G>C)
12g.101771016C>TCA386303459GNPTABc.913G>A (p.Asp305Asn)
c.832G>A (p.Asp278Asn)
c.697G>A (p.Asp233Asn)
c.-438G>A (n.-438G>A)
12g.101771018delCA2620445289GNPTABc.913del (p.Asp305IlefsTer2)
c.832del (p.Asp278IlefsTer2)
c.697del (p.Asp233IlefsTer2)
c.-438del (n.-438del)
 gnomAD v4
12g.101771017C>ACA6746766GNPTABc.912G>T (p.Trp304Cys)
c.831G>T (p.Trp277Cys)
c.696G>T (p.Trp232Cys)
c.-439G>T (n.-439G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101771017C=CA2058958214GNPTABc.912G= (p.Trp304=)
c.831G= (p.Trp277=)
c.696G= (p.Trp232=)
c.-439G= (n.-439G=)
12g.101771017C>GCA386303461GNPTABc.912G>C (p.Trp304Cys)
c.831G>C (p.Trp277Cys)
c.696G>C (p.Trp232Cys)
c.-439G>C (n.-439G>C)
12g.101771017C>TCA386303462GNPTABc.912G>A (p.Trp304Ter)
c.831G>A (p.Trp277Ter)
c.696G>A (p.Trp232Ter)
c.-439G>A (n.-439G>A)
12g.101771018C>ACA386303463GNPTABc.911G>T (p.Trp304Leu)
c.830G>T (p.Trp277Leu)
c.695G>T (p.Trp232Leu)
c.-440G>T (n.-440G>T)
12g.101771018C>GCA386303464GNPTABc.911G>C (p.Trp304Ser)
c.830G>C (p.Trp277Ser)
c.695G>C (p.Trp232Ser)
c.-440G>C (n.-440G>C)
12g.101771018C>TCA386303465GNPTABc.911G>A (p.Trp304Ter)
c.830G>A (p.Trp277Ter)
c.695G>A (p.Trp232Ter)
c.-440G>A (n.-440G>A)
 gnomAD v4 COSMIC COSMIC
12g.101771019A=CA2058958215GNPTABc.910T= (p.Trp304=)
c.829T= (p.Trp277=)
c.694T= (p.Trp232=)
c.-441T= (n.-441T=)
12g.101771019A>CCA386303466GNPTABc.910T>G (p.Trp304Gly)
c.829T>G (p.Trp277Gly)
c.694T>G (p.Trp232Gly)
c.-441T>G (n.-441T>G)
12g.101771019A>GCA386303467GNPTABc.910T>C (p.Trp304Arg)
c.829T>C (p.Trp277Arg)
c.694T>C (p.Trp232Arg)
c.-441T>C (n.-441T>C)
 dbSNP
12g.101771019A>TCA386303468GNPTABc.910T>A (p.Trp304Arg)
c.829T>A (p.Trp277Arg)
c.694T>A (p.Trp232Arg)
c.-441T>A (n.-441T>A)
12g.101771020T>ACA242462895GNPTABc.909A>T (p.Leu303Phe)
c.828A>T (p.Leu276Phe)
c.693A>T (p.Leu231Phe)
c.-442A>T (n.-442A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101771020T>CCA481321152GNPTABc.909A>G (p.Leu303=)
c.828A>G (p.Leu276=)
c.693A>G (p.Leu231=)
c.-442A>G (n.-442A>G)
12g.101771020T>GCA6746767GNPTABc.909A>C (p.Leu303Phe)
c.828A>C (p.Leu276Phe)
c.693A>C (p.Leu231Phe)
c.-442A>C (n.-442A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101771020T=CA2058958216GNPTABc.909A= (p.Leu303=)
c.828A= (p.Leu276=)
c.693A= (p.Leu231=)
c.-442A= (n.-442A=)
12g.101771021A>CCA386303471GNPTABc.908T>G (p.Leu303Ter)
c.827T>G (p.Leu276Ter)
c.692T>G (p.Leu231Ter)
c.-443T>G (n.-443T>G)
 COSMIC
12g.101771021A>GCA386303469GNPTABc.908T>C (p.Leu303Ser)
c.827T>C (p.Leu276Ser)
c.692T>C (p.Leu231Ser)
c.-443T>C (n.-443T>C)
12g.101771021A>TCA386303470GNPTABc.908T>A (p.Leu303Ter)
c.827T>A (p.Leu276Ter)
c.692T>A (p.Leu231Ter)
c.-443T>A (n.-443T>A)
12g.101771025_101771028delCA2580616843GNPTABc.905_908del (p.Leu302TyrfsTer4)
c.824_827del (p.Leu275TyrfsTer4)
c.689_692del (p.Leu230TyrfsTer4)
c.-446_-443del (n.-446_-443del)
 ClinVar
12g.101771022A=CA2058958217GNPTABc.907T= (p.Leu303=)
c.826T= (p.Leu276=)
c.691T= (p.Leu231=)
c.-444T= (n.-444T=)
12g.101771022A>CCA386303472GNPTABc.907T>G (p.Leu303Val)
c.826T>G (p.Leu276Val)
c.691T>G (p.Leu231Val)
c.-444T>G (n.-444T>G)
12g.101771022A>GCA481321165GNPTABc.907T>C (p.Leu303=)
c.826T>C (p.Leu276=)
c.691T>C (p.Leu231=)
c.-444T>C (n.-444T>C)
 dbSNP gnomAD v2 gnomAD v4
12g.101771022A>TCA386303473GNPTABc.907T>A (p.Leu303Ile)
c.826T>A (p.Leu276Ile)
c.691T>A (p.Leu231Ile)
c.-444T>A (n.-444T>A)
12g.101771023T>ACA386303474GNPTABc.906A>T (p.Leu302Phe)
c.825A>T (p.Leu275Phe)
c.690A>T (p.Leu230Phe)
c.-445A>T (n.-445A>T)
12g.101771023T>CCA481321167GNPTABc.906A>G (p.Leu302=)
c.825A>G (p.Leu275=)
c.690A>G (p.Leu230=)
c.-445A>G (n.-445A>G)
 dbSNP
12g.101771023T>GCA386303475GNPTABc.906A>C (p.Leu302Phe)
c.825A>C (p.Leu275Phe)
c.690A>C (p.Leu230Phe)
c.-445A>C (n.-445A>C)
12g.101771023T=CA2058958218GNPTABc.906A= (p.Leu302=)
c.825A= (p.Leu275=)
c.690A= (p.Leu230=)
c.-445A= (n.-445A=)
12g.101771024A>CCA386303476GNPTABc.905T>G (p.Leu302Ter)
c.824T>G (p.Leu275Ter)
c.689T>G (p.Leu230Ter)
c.-446T>G (n.-446T>G)
12g.101771024A>GCA386303477GNPTABc.905T>C (p.Leu302Ser)
c.824T>C (p.Leu275Ser)
c.689T>C (p.Leu230Ser)
c.-446T>C (n.-446T>C)
12g.101771024A>TCA386303478GNPTABc.905T>A (p.Leu302Ter)
c.824T>A (p.Leu275Ter)
c.689T>A (p.Leu230Ter)
c.-446T>A (n.-446T>A)
12g.101771025A>CCA386303479GNPTABc.904T>G (p.Leu302Val)
c.823T>G (p.Leu275Val)
c.688T>G (p.Leu230Val)
c.-447T>G (n.-447T>G)
12g.101771025A>GCA481321170GNPTABc.904T>C (p.Leu302=)
c.823T>C (p.Leu275=)
c.688T>C (p.Leu230=)
c.-447T>C (n.-447T>C)
12g.101771025A>TCA386303480GNPTABc.904T>A (p.Leu302Ile)
c.823T>A (p.Leu275Ile)
c.688T>A (p.Leu230Ile)
c.-447T>A (n.-447T>A)
12g.101771026A>CCA386303481GNPTABc.903T>G (p.Tyr301Ter)
c.822T>G (p.Tyr274Ter)
c.687T>G (p.Tyr229Ter)
c.-448T>G (n.-448T>G)
12g.101771026A>GCA481321173GNPTABc.903T>C (p.Tyr301=)
c.822T>C (p.Tyr274=)
c.687T>C (p.Tyr229=)
c.-448T>C (n.-448T>C)
12g.101771026A>TCA386303482GNPTABc.903T>A (p.Tyr301Ter)
c.822T>A (p.Tyr274Ter)
c.687T>A (p.Tyr229Ter)
c.-448T>A (n.-448T>A)
12g.101771027T>ACA386303485GNPTABc.902A>T (p.Tyr301Phe)
c.821A>T (p.Tyr274Phe)
c.686A>T (p.Tyr229Phe)
c.-449A>T (n.-449A>T)
12g.101771027T>CCA386303484GNPTABc.902A>G (p.Tyr301Cys)
c.821A>G (p.Tyr274Cys)
c.686A>G (p.Tyr229Cys)
c.-449A>G (n.-449A>G)
12g.101771027T>GCA386303483GNPTABc.902A>C (p.Tyr301Ser)
c.821A>C (p.Tyr274Ser)
c.686A>C (p.Tyr229Ser)
c.-449A>C (n.-449A>C)
12g.101771028A>CCA386303486GNPTABc.901T>G (p.Tyr301Asp)
c.820T>G (p.Tyr274Asp)
c.685T>G (p.Tyr229Asp)
c.-450T>G (n.-450T>G)
12g.101771028A>GCA386303487GNPTABc.901T>C (p.Tyr301His)
c.820T>C (p.Tyr274His)
c.685T>C (p.Tyr229His)
c.-450T>C (n.-450T>C)
 gnomAD v4
12g.101771028A>TCA386303488GNPTABc.901T>A (p.Tyr301Asn)
c.820T>A (p.Tyr274Asn)
c.685T>A (p.Tyr229Asn)
c.-450T>A (n.-450T>A)
12g.101771029T>ACA481321192GNPTABc.900A>T (p.Ala300=)
c.819A>T (p.Ala273=)
c.684A>T (p.Ala228=)
c.-451A>T (n.-451A>T)
 ClinVar
12g.101771029T>CCA6746768GNPTABc.900A>G (p.Ala300=)
c.819A>G (p.Ala273=)
c.684A>G (p.Ala228=)
c.-451A>G (n.-451A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101771029T>GCA481321200GNPTABc.900A>C (p.Ala300=)
c.819A>C (p.Ala273=)
c.684A>C (p.Ala228=)
c.-451A>C (n.-451A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101771029T=CA2058958219GNPTABc.900A= (p.Ala300=)
c.819A= (p.Ala273=)
c.684A= (p.Ala228=)
c.-451A= (n.-451A=)
12g.101771030G>ACA386303489GNPTABc.899C>T (p.Ala300Val)
c.818C>T (p.Ala273Val)
c.683C>T (p.Ala228Val)
c.-452C>T (n.-452C>T)
 dbSNP gnomAD v3 gnomAD v4
12g.101771030G>CCA386303490GNPTABc.899C>G (p.Ala300Gly)
c.818C>G (p.Ala273Gly)
c.683C>G (p.Ala228Gly)
c.-452C>G (n.-452C>G)
12g.101771030G=CA2058958220GNPTABc.899C= (p.Ala300=)
c.818C= (p.Ala273=)
c.683C= (p.Ala228=)
c.-452C= (n.-452C=)
12g.101771030G>TCA386303491GNPTABc.899C>A (p.Ala300Glu)
c.818C>A (p.Ala273Glu)
c.683C>A (p.Ala228Glu)
c.-452C>A (n.-452C>A)
12g.101771031C>ACA242462900GNPTABc.898G>T (p.Ala300Ser)
c.817G>T (p.Ala273Ser)
c.682G>T (p.Ala228Ser)
c.-453G>T (n.-453G>T)
 dbSNP gnomAD v3 gnomAD v4
12g.101771031C=CA2058958221GNPTABc.898G= (p.Ala300=)
c.817G= (p.Ala273=)
c.682G= (p.Ala228=)
c.-453G= (n.-453G=)
12g.101771031C>GCA386303492GNPTABc.898G>C (p.Ala300Pro)
c.817G>C (p.Ala273Pro)
c.682G>C (p.Ala228Pro)
c.-453G>C (n.-453G>C)
12g.101771031C>TCA386303493GNPTABc.898G>A (p.Ala300Thr)
c.817G>A (p.Ala273Thr)
c.682G>A (p.Ala228Thr)
c.-453G>A (n.-453G>A)
12g.101771032A>CCA481321206GNPTABc.897T>G (p.Pro299=)
c.816T>G (p.Pro272=)
c.681T>G (p.Pro227=)
c.-454T>G (n.-454T>G)
12g.101771032A>GCA481321208GNPTABc.897T>C (p.Pro299=)
c.816T>C (p.Pro272=)
c.681T>C (p.Pro227=)
c.-454T>C (n.-454T>C)
12g.101771032A>TCA481321211GNPTABc.897T>A (p.Pro299=)
c.816T>A (p.Pro272=)
c.681T>A (p.Pro227=)
c.-454T>A (n.-454T>A)
12g.101771033G>ACA386303494GNPTABc.896C>T (p.Pro299Leu)
c.815C>T (p.Pro272Leu)
c.680C>T (p.Pro227Leu)
c.-455C>T (n.-455C>T)
 dbSNP
12g.101771033G>CCA386303495GNPTABc.896C>G (p.Pro299Arg)
c.815C>G (p.Pro272Arg)
c.680C>G (p.Pro227Arg)
c.-455C>G (n.-455C>G)
12g.101771033G=CA2058958222GNPTABc.896C= (p.Pro299=)
c.815C= (p.Pro272=)
c.680C= (p.Pro227=)
c.-455C= (n.-455C=)
12g.101771033G>TCA386303496GNPTABc.896C>A (p.Pro299His)
c.815C>A (p.Pro272His)
c.680C>A (p.Pro227His)
c.-455C>A (n.-455C>A)
12g.101771034G>ACA386303499GNPTABc.895C>T (p.Pro299Ser)
c.814C>T (p.Pro272Ser)
c.679C>T (p.Pro227Ser)
c.-456C>T (n.-456C>T)
 dbSNP gnomAD v2
12g.101771034G>CCA386303497GNPTABc.895C>G (p.Pro299Ala)
c.814C>G (p.Pro272Ala)
c.679C>G (p.Pro227Ala)
c.-456C>G (n.-456C>G)
 dbSNP gnomAD v2 gnomAD v4
12g.101771034G=CA2058958223GNPTABc.895C= (p.Pro299=)
c.814C= (p.Pro272=)
c.679C= (p.Pro227=)
c.-456C= (n.-456C=)
12g.101771034G>TCA386303498GNPTABc.895C>A (p.Pro299Thr)
c.814C>A (p.Pro272Thr)
c.679C>A (p.Pro227Thr)
c.-456C>A (n.-456C>A)
12g.101771034_101771149delinsATCCCATAATAAAAACA2580085726GNPTABc.780_895delinsTTTTTATTATGGGAT (p.Leu260PhefsTer20)
c.699_814delinsTTTTTATTATGGGAT (p.Leu233PhefsTer20)
c.564_679delinsTTTTTATTATGGGAT (p.Leu188PhefsTer20)
c.-571_-456delinsTTTTTATTATGGGAT (n.-571_-456delinsTTTTTATTATGGGAT)
 ClinVar
12g.101771035A>CCA386303500GNPTABc.894T>G (p.Ser298Arg)
c.813T>G (p.Ser271Arg)
c.678T>G (p.Ser226Arg)
c.-457T>G (n.-457T>G)
12g.101771035A>GCA481321217GNPTABc.894T>C (p.Ser298=)
c.813T>C (p.Ser271=)
c.678T>C (p.Ser226=)
c.-457T>C (n.-457T>C)
12g.101771035A>TCA386303501GNPTABc.894T>A (p.Ser298Arg)
c.813T>A (p.Ser271Arg)
c.678T>A (p.Ser226Arg)
c.-457T>A (n.-457T>A)
12g.101771036C>ACA386303502GNPTABc.893G>T (p.Ser298Ile)
c.812G>T (p.Ser271Ile)
c.677G>T (p.Ser226Ile)
c.-458G>T (n.-458G>T)
12g.101771036C>GCA386303503GNPTABc.893G>C (p.Ser298Thr)
c.812G>C (p.Ser271Thr)
c.677G>C (p.Ser226Thr)
c.-458G>C (n.-458G>C)
12g.101771036C>TCA386303504GNPTABc.893G>A (p.Ser298Asn)
c.812G>A (p.Ser271Asn)
c.677G>A (p.Ser226Asn)
c.-458G>A (n.-458G>A)
 gnomAD v4
12g.101771037T>ACA386303505GNPTABc.892A>T (p.Ser298Cys)
c.811A>T (p.Ser271Cys)
c.676A>T (p.Ser226Cys)
c.-459A>T (n.-459A>T)
12g.101771037T>CCA386303506GNPTABc.892A>G (p.Ser298Gly)
c.811A>G (p.Ser271Gly)
c.676A>G (p.Ser226Gly)
c.-459A>G (n.-459A>G)
12g.101771037T>GCA386303507GNPTABc.892A>C (p.Ser298Arg)
c.811A>C (p.Ser271Arg)
c.676A>C (p.Ser226Arg)
c.-459A>C (n.-459A>C)
12g.101771039_101771053delCA645594563GNPTABc.878_892del (p.Lys293_Ile297del)
c.797_811del (p.Lys266_Ile270del)
c.662_676del (p.Lys221_Ile225del)
c.-473_-459del (n.-473_-459del)
 COSMIC
12g.101771038T>ACA481321234GNPTABc.891A>T (p.Ile297=)
c.810A>T (p.Ile270=)
c.675A>T (p.Ile225=)
c.-460A>T (n.-460A>T)
12g.101771038T>CCA386303508GNPTABc.891A>G (p.Ile297Met)
c.810A>G (p.Ile270Met)
c.675A>G (p.Ile225Met)
c.-460A>G (n.-460A>G)
12g.101771038T>GCA481321240GNPTABc.891A>C (p.Ile297=)
c.810A>C (p.Ile270=)
c.675A>C (p.Ile225=)
c.-460A>C (n.-460A>C)
12g.101771038T=CA2058958224GNPTABc.891A= (p.Ile297=)
c.810A= (p.Ile270=)
c.675A= (p.Ile225=)
c.-460A= (n.-460A=)
12g.101771039A>CCA386303509GNPTABc.890T>G (p.Ile297Arg)
c.809T>G (p.Ile270Arg)
c.674T>G (p.Ile225Arg)
c.-461T>G (n.-461T>G)
12g.101771039A>GCA386303510GNPTABc.890T>C (p.Ile297Thr)
c.809T>C (p.Ile270Thr)
c.674T>C (p.Ile225Thr)
c.-461T>C (n.-461T>C)
 gnomAD v4
12g.101771039A>TCA386303511GNPTABc.890T>A (p.Ile297Lys)
c.809T>A (p.Ile270Lys)
c.674T>A (p.Ile225Lys)
c.-461T>A (n.-461T>A)
12g.101771039dupCA916083334GNPTABc.890dup (p.Ser298LysfsTer16)
c.809dup (p.Ser271LysfsTer16)
c.674dup (p.Ser226LysfsTer16)
c.-461dup (n.-461dup)
 ClinVar dbSNP
12g.101771040T>ACA386303514GNPTABc.889A>T (p.Ile297Leu)
c.808A>T (p.Ile270Leu)
c.673A>T (p.Ile225Leu)
c.-462A>T (n.-462A>T)
12g.101771040T>CCA386303513GNPTABc.889A>G (p.Ile297Val)
c.808A>G (p.Ile270Val)
c.673A>G (p.Ile225Val)
c.-462A>G (n.-462A>G)
 dbSNP gnomAD v4
12g.101771040T>GCA386303512GNPTABc.889A>C (p.Ile297Leu)
c.808A>C (p.Ile270Leu)
c.673A>C (p.Ile225Leu)
c.-462A>C (n.-462A>C)
12g.101771040T=CA2058958225GNPTABc.889A= (p.Ile297=)
c.808A= (p.Ile270=)
c.673A= (p.Ile225=)
c.-462A= (n.-462A=)
12g.101771041G>ACA481321248GNPTABc.888C>T (p.Thr296=)
c.807C>T (p.Thr269=)
c.672C>T (p.Thr224=)
c.-463C>T (n.-463C>T)
12g.101771041G>CCA481321246GNPTABc.888C>G (p.Thr296=)
c.807C>G (p.Thr269=)
c.672C>G (p.Thr224=)
c.-463C>G (n.-463C>G)
12g.101771041G>TCA481321244GNPTABc.888C>A (p.Thr296=)
c.807C>A (p.Thr269=)
c.672C>A (p.Thr224=)
c.-463C>A (n.-463C>A)
12g.101771042delCA2580085727GNPTABc.888del (p.Ile297Ter)
c.807del (p.Ile270Ter)
c.672del (p.Ile225Ter)
c.-463del (n.-463del)
 ClinVar
12g.101771042G>ACA386303515GNPTABc.887C>T (p.Thr296Ile)
c.806C>T (p.Thr269Ile)
c.671C>T (p.Thr224Ile)
c.-464C>T (n.-464C>T)
 gnomAD v4
12g.101771042G>CCA386303517GNPTABc.887C>G (p.Thr296Ser)
c.806C>G (p.Thr269Ser)
c.671C>G (p.Thr224Ser)
c.-464C>G (n.-464C>G)
12g.101771042G>TCA386303516GNPTABc.887C>A (p.Thr296Asn)
c.806C>A (p.Thr269Asn)
c.671C>A (p.Thr224Asn)
c.-464C>A (n.-464C>A)
12g.101771043T>ACA386303518GNPTABc.886A>T (p.Thr296Ser)
c.805A>T (p.Thr269Ser)
c.670A>T (p.Thr224Ser)
c.-465A>T (n.-465A>T)
12g.101771043T>CCA386303520GNPTABc.886A>G (p.Thr296Ala)
c.805A>G (p.Thr269Ala)
c.670A>G (p.Thr224Ala)
c.-465A>G (n.-465A>G)
 dbSNP gnomAD v4
12g.101771043T>GCA386303519GNPTABc.886A>C (p.Thr296Pro)
c.805A>C (p.Thr269Pro)
c.670A>C (p.Thr224Pro)
c.-465A>C (n.-465A>C)
12g.101771043T=CA2058958226GNPTABc.886A= (p.Thr296=)
c.805A= (p.Thr269=)
c.670A= (p.Thr224=)
c.-465A= (n.-465A=)
12g.101771044C>ACA481321258GNPTABc.885G>T (p.Leu295=)
c.804G>T (p.Leu268=)
c.669G>T (p.Leu223=)
c.-466G>T (n.-466G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.101771044C=CA2058958227GNPTABc.885G= (p.Leu295=)
c.804G= (p.Leu268=)
c.669G= (p.Leu223=)
c.-466G= (n.-466G=)
12g.101771044C>GCA481321262GNPTABc.885G>C (p.Leu295=)
c.804G>C (p.Leu268=)
c.669G>C (p.Leu223=)
c.-466G>C (n.-466G>C)
12g.101771044C>TCA6746769GNPTABc.885G>A (p.Leu295=)
c.804G>A (p.Leu268=)
c.669G>A (p.Leu223=)
c.-466G>A (n.-466G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101771045A>CCA386303523GNPTABc.884T>G (p.Leu295Arg)
c.803T>G (p.Leu268Arg)
c.668T>G (p.Leu223Arg)
c.-467T>G (n.-467T>G)
12g.101771045A>GCA386303521GNPTABc.884T>C (p.Leu295Pro)
c.803T>C (p.Leu268Pro)
c.668T>C (p.Leu223Pro)
c.-467T>C (n.-467T>C)
 gnomAD v4
12g.101771045A>TCA386303522GNPTABc.884T>A (p.Leu295Gln)
c.803T>A (p.Leu268Gln)
c.668T>A (p.Leu223Gln)
c.-467T>A (n.-467T>A)
12g.101771046G>ACA481321279GNPTABc.883C>T (p.Leu295=)
c.802C>T (p.Leu268=)
c.667C>T (p.Leu223=)
c.-468C>T (n.-468C>T)
12g.101771046G>CCA386303524GNPTABc.883C>G (p.Leu295Val)
c.802C>G (p.Leu268Val)
c.667C>G (p.Leu223Val)
c.-468C>G (n.-468C>G)
12g.101771046G>TCA386303525GNPTABc.883C>A (p.Leu295Met)
c.802C>A (p.Leu268Met)
c.667C>A (p.Leu223Met)
c.-468C>A (n.-468C>A)
12g.101771047T>ACA386303526GNPTABc.882A>T (p.Glu294Asp)
c.801A>T (p.Glu267Asp)
c.666A>T (p.Glu222Asp)
c.-469A>T (n.-469A>T)
12g.101771047T>CCA481321280GNPTABc.882A>G (p.Glu294=)
c.801A>G (p.Glu267=)
c.666A>G (p.Glu222=)
c.-469A>G (n.-469A>G)
 ClinVar COSMIC COSMIC
12g.101771047T>GCA386303527GNPTABc.882A>C (p.Glu294Asp)
c.801A>C (p.Glu267Asp)
c.666A>C (p.Glu222Asp)
c.-469A>C (n.-469A>C)
12g.101771048T>ACA386303528GNPTABc.881A>T (p.Glu294Val)
c.800A>T (p.Glu267Val)
c.665A>T (p.Glu222Val)
c.-470A>T (n.-470A>T)
12g.101771048T>CCA386303529GNPTABc.881A>G (p.Glu294Gly)
c.800A>G (p.Glu267Gly)
c.665A>G (p.Glu222Gly)
c.-470A>G (n.-470A>G)
 gnomAD v4
12g.101771048T>GCA386303530GNPTABc.881A>C (p.Glu294Ala)
c.800A>C (p.Glu267Ala)
c.665A>C (p.Glu222Ala)
c.-470A>C (n.-470A>C)
12g.101771049C>ACA386303531GNPTABc.880G>T (p.Glu294Ter)
c.799G>T (p.Glu267Ter)
c.664G>T (p.Glu222Ter)
c.-471G>T (n.-471G>T)
 ClinVar dbSNP COSMIC COSMIC
12g.101771049C=CA2058958228GNPTABc.880G= (p.Glu294=)
c.799G= (p.Glu267=)
c.664G= (p.Glu222=)
c.-471G= (n.-471G=)
12g.101771049C>GCA386303532GNPTABc.880G>C (p.Glu294Gln)
c.799G>C (p.Glu267Gln)
c.664G>C (p.Glu222Gln)
c.-471G>C (n.-471G>C)
 dbSNP
12g.101771049C>TCA386303533GNPTABc.880G>A (p.Glu294Lys)
c.799G>A (p.Glu267Lys)
c.664G>A (p.Glu222Lys)
c.-471G>A (n.-471G>A)
12g.101771050T>ACA386303535GNPTABc.879A>T (p.Lys293Asn)
c.798A>T (p.Lys266Asn)
c.663A>T (p.Lys221Asn)
c.-472A>T (n.-472A>T)
12g.101771050T>CCA242462913GNPTABc.879A>G (p.Lys293=)
c.798A>G (p.Lys266=)
c.663A>G (p.Lys221=)
c.-472A>G (n.-472A>G)
 ClinVar dbSNP
12g.101771050T>GCA386303534GNPTABc.879A>C (p.Lys293Asn)
c.798A>C (p.Lys266Asn)
c.663A>C (p.Lys221Asn)
c.-472A>C (n.-472A>C)
12g.101771050T=CA2058958229GNPTABc.879A= (p.Lys293=)
c.798A= (p.Lys266=)
c.663A= (p.Lys221=)
c.-472A= (n.-472A=)
12g.101771053dupCA2058958230GNPTABc.879dup (p.Glu294ArgfsTer20)
c.798dup (p.Glu267ArgfsTer20)
c.663dup (p.Glu222ArgfsTer20)
c.-472dup (n.-472dup)
 dbSNP
12g.101771051T>ACA386303536GNPTABc.878A>T (p.Lys293Ile)
c.797A>T (p.Lys266Ile)
c.662A>T (p.Lys221Ile)
c.-473A>T (n.-473A>T)
12g.101771051T>CCA386303537GNPTABc.878A>G (p.Lys293Arg)
c.797A>G (p.Lys266Arg)
c.662A>G (p.Lys221Arg)
c.-473A>G (n.-473A>G)
12g.101771051T>GCA386303538GNPTABc.878A>C (p.Lys293Thr)
c.797A>C (p.Lys266Thr)
c.662A>C (p.Lys221Thr)
c.-473A>C (n.-473A>C)
12g.101771052T>ACA386303539GNPTABc.877A>T (p.Lys293Ter)
c.796A>T (p.Lys266Ter)
c.661A>T (p.Lys221Ter)
c.-474A>T (n.-474A>T)
12g.101771052T>CCA386303540GNPTABc.877A>G (p.Lys293Glu)
c.796A>G (p.Lys266Glu)
c.661A>G (p.Lys221Glu)
c.-474A>G (n.-474A>G)
12g.101771052T>GCA386303541GNPTABc.877A>C (p.Lys293Gln)
c.796A>C (p.Lys266Gln)
c.661A>C (p.Lys221Gln)
c.-474A>C (n.-474A>C)
12g.101771053T>ACA481321286GNPTABc.876A>T (p.Gly292=)
c.795A>T (p.Gly265=)
c.660A>T (p.Gly220=)
c.-475A>T (n.-475A>T)
12g.101771053T>CCA481321287GNPTABc.876A>G (p.Gly292=)
c.795A>G (p.Gly265=)
c.660A>G (p.Gly220=)
c.-475A>G (n.-475A>G)
 ClinVar dbSNP
12g.101771053T>GCA481321288GNPTABc.876A>C (p.Gly292=)
c.795A>C (p.Gly265=)
c.660A>C (p.Gly220=)
c.-475A>C (n.-475A>C)
12g.101771055_101771058delCA2739291720GNPTABc.873_876del (p.Asp291GlufsTer4)
c.792_795del (p.Asp264GlufsTer4)
c.657_660del (p.Asp219GlufsTer4)
c.-478_-475del (n.-478_-475del)
12g.101771054C>ACA386303542GNPTABc.875G>T (p.Gly292Val)
c.794G>T (p.Gly265Val)
c.659G>T (p.Gly220Val)
c.-476G>T (n.-476G>T)
12g.101771054C>GCA386303543GNPTABc.875G>C (p.Gly292Ala)
c.794G>C (p.Gly265Ala)
c.659G>C (p.Gly220Ala)
c.-476G>C (n.-476G>C)
12g.101771054C>TCA386303544GNPTABc.875G>A (p.Gly292Glu)
c.794G>A (p.Gly265Glu)
c.659G>A (p.Gly220Glu)
c.-476G>A (n.-476G>A)
12g.101771055C>ACA386303545GNPTABc.874G>T (p.Gly292Ter)
c.793G>T (p.Gly265Ter)
c.658G>T (p.Gly220Ter)
c.-477G>T (n.-477G>T)
12g.101771055C=CA2058958231GNPTABc.874G= (p.Gly292=)
c.793G= (p.Gly265=)
c.658G= (p.Gly220=)
c.-477G= (n.-477G=)
12g.101771055C>GCA386303546GNPTABc.874G>C (p.Gly292Arg)
c.793G>C (p.Gly265Arg)
c.658G>C (p.Gly220Arg)
c.-477G>C (n.-477G>C)
12g.101771055C>TCA386303547GNPTABc.874G>A (p.Gly292Arg)
c.793G>A (p.Gly265Arg)
c.658G>A (p.Gly220Arg)
c.-477G>A (n.-477G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.101771056A>CCA386303548GNPTABc.873T>G (p.Asp291Glu)
c.792T>G (p.Asp264Glu)
c.657T>G (p.Asp219Glu)
c.-478T>G (n.-478T>G)
12g.101771056A>GCA481321296GNPTABc.873T>C (p.Asp291=)
c.792T>C (p.Asp264=)
c.657T>C (p.Asp219=)
c.-478T>C (n.-478T>C)
12g.101771056A>TCA386303549GNPTABc.873T>A (p.Asp291Glu)
c.792T>A (p.Asp264Glu)
c.657T>A (p.Asp219Glu)
c.-478T>A (n.-478T>A)
12g.101771057T>ACA386303550GNPTABc.872A>T (p.Asp291Val)
c.791A>T (p.Asp264Val)
c.656A>T (p.Asp219Val)
c.-479A>T (n.-479A>T)
12g.101771057T>CCA6746770GNPTABc.872A>G (p.Asp291Gly)
c.791A>G (p.Asp264Gly)
c.656A>G (p.Asp219Gly)
c.-479A>G (n.-479A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.101771057T>GCA386303551GNPTABc.872A>C (p.Asp291Ala)
c.791A>C (p.Asp264Ala)
c.656A>C (p.Asp219Ala)
c.-479A>C (n.-479A>C)
12g.101771057T=CA2058958232GNPTABc.872A= (p.Asp291=)
c.791A= (p.Asp264=)
c.656A= (p.Asp219=)
c.-479A= (n.-479A=)
12g.101771058C>ACA386303552GNPTABc.871G>T (p.Asp291Tyr)
c.790G>T (p.Asp264Tyr)
c.655G>T (p.Asp219Tyr)
c.-480G>T (n.-480G>T)
12g.101771058C=CA2058958233GNPTABc.871G= (p.Asp291=)
c.790G= (p.Asp264=)
c.655G= (p.Asp219=)
c.-480G= (n.-480G=)
12g.101771058C>GCA386303553GNPTABc.871G>C (p.Asp291His)
c.790G>C (p.Asp264His)
c.655G>C (p.Asp219His)
c.-480G>C (n.-480G>C)
12g.101771058C>TCA386303554GNPTABc.871G>A (p.Asp291Asn)
c.790G>A (p.Asp264Asn)
c.655G>A (p.Asp219Asn)
c.-480G>A (n.-480G>A)
 ClinVar dbSNP
12g.101771059A=CA2058958234GNPTABc.870T= (p.Ile290=)
c.789T= (p.Ile263=)
c.654T= (p.Ile218=)
c.-481T= (n.-481T=)
12g.101771059A>CCA386303555GNPTABc.870T>G (p.Ile290Met)
c.789T>G (p.Ile263Met)
c.654T>G (p.Ile218Met)
c.-481T>G (n.-481T>G)
12g.101771059A>GCA6746771GNPTABc.870T>C (p.Ile290=)
c.789T>C (p.Ile263=)
c.654T>C (p.Ile218=)
c.-481T>C (n.-481T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101771059A>TCA481321304GNPTABc.870T>A (p.Ile290=)
c.789T>A (p.Ile263=)
c.654T>A (p.Ile218=)
c.-481T>A (n.-481T>A)
12g.101771060A>CCA386303556GNPTABc.869T>G (p.Ile290Ser)
c.788T>G (p.Ile263Ser)
c.653T>G (p.Ile218Ser)
c.-482T>G (n.-482T>G)
12g.101771060A>GCA386303557GNPTABc.869T>C (p.Ile290Thr)
c.788T>C (p.Ile263Thr)
c.653T>C (p.Ile218Thr)
c.-482T>C (n.-482T>C)
12g.101771060A>TCA386303558GNPTABc.869T>A (p.Ile290Asn)
c.788T>A (p.Ile263Asn)
c.653T>A (p.Ile218Asn)
c.-482T>A (n.-482T>A)
12g.101771061T>ACA386303561GNPTABc.868A>T (p.Ile290Phe)
c.787A>T (p.Ile263Phe)
c.652A>T (p.Ile218Phe)
c.-483A>T (n.-483A>T)
12g.101771061T>CCA386303560GNPTABc.868A>G (p.Ile290Val)
c.787A>G (p.Ile263Val)
c.652A>G (p.Ile218Val)
c.-483A>G (n.-483A>G)
12g.101771061T>GCA386303559GNPTABc.868A>C (p.Ile290Leu)
c.787A>C (p.Ile263Leu)
c.652A>C (p.Ile218Leu)
c.-483A>C (n.-483A>C)
12g.101771062G>ACA481321307GNPTABc.867C>T (p.Thr289=)
c.786C>T (p.Thr262=)
c.651C>T (p.Thr217=)
c.-484C>T (n.-484C>T)
 gnomAD v4
12g.101771062G>CCA481321308GNPTABc.867C>G (p.Thr289=)
c.786C>G (p.Thr262=)
c.651C>G (p.Thr217=)
c.-484C>G (n.-484C>G)
 ClinVar
12g.101771062G>TCA481321309GNPTABc.867C>A (p.Thr289=)
c.786C>A (p.Thr262=)
c.651C>A (p.Thr217=)
c.-484C>A (n.-484C>A)
 gnomAD v4
12g.101771063G>ACA386303562GNPTABc.866C>T (p.Thr289Ile)
c.785C>T (p.Thr262Ile)
c.650C>T (p.Thr217Ile)
c.-485C>T (n.-485C>T)
 gnomAD v4
12g.101771063G>CCA6746772GNPTABc.866C>G (p.Thr289Ser)
c.785C>G (p.Thr262Ser)
c.650C>G (p.Thr217Ser)
c.-485C>G (n.-485C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101771063G=CA2058958235GNPTABc.866C= (p.Thr289=)
c.785C= (p.Thr262=)
c.650C= (p.Thr217=)
c.-485C= (n.-485C=)
12g.101771063G>TCA386303563GNPTABc.866C>A (p.Thr289Asn)
c.785C>A (p.Thr262Asn)
c.650C>A (p.Thr217Asn)
c.-485C>A (n.-485C>A)
 gnomAD v4
12g.101771064T>ACA386303564GNPTABc.865A>T (p.Thr289Ser)
c.784A>T (p.Thr262Ser)
c.649A>T (p.Thr217Ser)
c.-486A>T (n.-486A>T)
12g.101771064T>CCA386303565GNPTABc.865A>G (p.Thr289Ala)
c.784A>G (p.Thr262Ala)
c.649A>G (p.Thr217Ala)
c.-486A>G (n.-486A>G)
12g.101771064T>GCA386303566GNPTABc.865A>C (p.Thr289Pro)
c.784A>C (p.Thr262Pro)
c.649A>C (p.Thr217Pro)
c.-486A>C (n.-486A>C)
12g.101771065C>ACA386303567GNPTABc.864G>T (p.Met288Ile)
c.783G>T (p.Met261Ile)
c.648G>T (p.Met216Ile)
c.-487G>T (n.-487G>T)
12g.101771065C>GCA386303568GNPTABc.864G>C (p.Met288Ile)
c.783G>C (p.Met261Ile)
c.648G>C (p.Met216Ile)
c.-487G>C (n.-487G>C)
12g.101771065C>TCA386303569GNPTABc.864G>A (p.Met288Ile)
c.783G>A (p.Met261Ile)
c.648G>A (p.Met216Ile)
c.-487G>A (n.-487G>A)
12g.101771066A=CA2058958236GNPTABc.863T= (p.Met288=)
c.782T= (p.Met261=)
c.647T= (p.Met216=)
c.-488T= (n.-488T=)
12g.101771066A>CCA386303570GNPTABc.863T>G (p.Met288Arg)
c.782T>G (p.Met261Arg)
c.647T>G (p.Met216Arg)
c.-488T>G (n.-488T>G)
12g.101771066A>GCA6746773GNPTABc.863T>C (p.Met288Thr)
c.782T>C (p.Met261Thr)
c.647T>C (p.Met216Thr)
c.-488T>C (n.-488T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101771066A>TCA386303571GNPTABc.863T>A (p.Met288Lys)
c.782T>A (p.Met261Lys)
c.647T>A (p.Met216Lys)
c.-488T>A (n.-488T>A)
12g.101771067T>ACA386303573GNPTABc.862A>T (p.Met288Leu)
c.781A>T (p.Met261Leu)
c.646A>T (p.Met216Leu)
c.-489A>T (n.-489A>T)
12g.101771067T>CCA6746774GNPTABc.862A>G (p.Met288Val)
c.781A>G (p.Met261Val)
c.646A>G (p.Met216Val)
c.-489A>G (n.-489A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101771067T>GCA386303572GNPTABc.862A>C (p.Met288Leu)
c.781A>C (p.Met261Leu)
c.646A>C (p.Met216Leu)
c.-489A>C (n.-489A>C)
12g.101771067T=CA2058958237GNPTABc.862A= (p.Met288=)
c.781A= (p.Met261=)
c.646A= (p.Met216=)
c.-489A= (n.-489A=)
12g.101771068G>ACA481321317GNPTABc.861C>T (p.Asn287=)
c.780C>T (p.Asn260=)
c.645C>T (p.Asn215=)
c.-490C>T (n.-490C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101771068G>CCA386303574GNPTABc.861C>G (p.Asn287Lys)
c.780C>G (p.Asn260Lys)
c.645C>G (p.Asn215Lys)
c.-490C>G (n.-490C>G)
12g.101771068G=CA2058958238GNPTABc.861C= (p.Asn287=)
c.780C= (p.Asn260=)
c.645C= (p.Asn215=)
c.-490C= (n.-490C=)
12g.101771068G>TCA386303575GNPTABc.861C>A (p.Asn287Lys)
c.780C>A (p.Asn260Lys)
c.645C>A (p.Asn215Lys)
c.-490C>A (n.-490C>A)
12g.101771068_101771071delinsGTTCCA2058958239GNPTABc.858_861delinsGAAC (p.Lys286=)
c.777_780delinsGAAC (p.Lys259=)
c.642_645delinsGAAC (p.Lys214=)
c.-493_-490delinsGAAC (n.-493_-490delinsGAAC)
12g.101771069T>ACA386303576GNPTABc.860A>T (p.Asn287Ile)
c.779A>T (p.Asn260Ile)
c.644A>T (p.Asn215Ile)
c.-491A>T (n.-491A>T)
12g.101771069T>CCA386303577GNPTABc.860A>G (p.Asn287Ser)
c.779A>G (p.Asn260Ser)
c.644A>G (p.Asn215Ser)
c.-491A>G (n.-491A>G)
12g.101771069T>GCA386303578GNPTABc.860A>C (p.Asn287Thr)
c.779A>C (p.Asn260Thr)
c.644A>C (p.Asn215Thr)
c.-491A>C (n.-491A>C)
12g.101771074_101771076delCA607597987GNPTABc.858_860del (p.Lys286del)
c.777_779del (p.Lys259del)
c.642_644del (p.Lys214del)
c.-493_-491del (n.-493_-491del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101771070T>ACA386303579GNPTABc.859A>T (p.Asn287Tyr)
c.778A>T (p.Asn260Tyr)
c.643A>T (p.Asn215Tyr)
c.-492A>T (n.-492A>T)
 gnomAD v4
12g.101771070T>CCA386303580GNPTABc.859A>G (p.Asn287Asp)
c.778A>G (p.Asn260Asp)
c.643A>G (p.Asn215Asp)
c.-492A>G (n.-492A>G)
12g.101771070T>GCA386303581GNPTABc.859A>C (p.Asn287His)
c.778A>C (p.Asn260His)
c.643A>C (p.Asn215His)
c.-492A>C (n.-492A>C)
12g.101771071C>ACA386303582GNPTABc.858G>T (p.Lys286Asn)
c.777G>T (p.Lys259Asn)
c.642G>T (p.Lys214Asn)
c.-493G>T (n.-493G>T)
12g.101771071C=CA2058958240GNPTABc.858G= (p.Lys286=)
c.777G= (p.Lys259=)
c.642G= (p.Lys214=)
c.-493G= (n.-493G=)
12g.101771071C>GCA386303583GNPTABc.858G>C (p.Lys286Asn)
c.777G>C (p.Lys259Asn)
c.642G>C (p.Lys214Asn)
c.-493G>C (n.-493G>C)
12g.101771071C>TCA481321323GNPTABc.858G>A (p.Lys286=)
c.777G>A (p.Lys259=)
c.642G>A (p.Lys214=)
c.-493G>A (n.-493G>A)
12g.101771072T>ACA386303584GNPTABc.857A>T (p.Lys286Met)
c.776A>T (p.Lys259Met)
c.641A>T (p.Lys214Met)
c.-494A>T (n.-494A>T)
12g.101771072T>CCA386303585GNPTABc.857A>G (p.Lys286Arg)
c.776A>G (p.Lys259Arg)
c.641A>G (p.Lys214Arg)
c.-494A>G (n.-494A>G)
12g.101771072T>GCA386303586GNPTABc.857A>C (p.Lys286Thr)
c.776A>C (p.Lys259Thr)
c.641A>C (p.Lys214Thr)
c.-494A>C (n.-494A>C)
 dbSNP gnomAD v3 gnomAD v4
12g.101771072T=CA2058958241GNPTABc.857A= (p.Lys286=)
c.776A= (p.Lys259=)
c.641A= (p.Lys214=)
c.-494A= (n.-494A=)
12g.101771073dupCA343416GNPTABc.857dup (p.Asn287GlufsTer5)
c.776dup (p.Asn260GlufsTer5)
c.641dup (p.Asn215GlufsTer5)
c.-494dup (n.-494dup)
 ClinVar dbSNP
12g.101771073T>ACA386303589GNPTABc.856A>T (p.Lys286Ter)
c.775A>T (p.Lys259Ter)
c.640A>T (p.Lys214Ter)
c.-495A>T (n.-495A>T)
12g.101771073T>CCA386303587GNPTABc.856A>G (p.Lys286Glu)
c.775A>G (p.Lys259Glu)
c.640A>G (p.Lys214Glu)
c.-495A>G (n.-495A>G)
12g.101771073T>GCA386303588GNPTABc.856A>C (p.Lys286Gln)
c.775A>C (p.Lys259Gln)
c.640A>C (p.Lys214Gln)
c.-495A>C (n.-495A>C)
12g.101771074C>ACA386303590GNPTABc.855G>T (p.Lys285Asn)
c.774G>T (p.Lys258Asn)
c.639G>T (p.Lys213Asn)
c.-496G>T (n.-496G>T)
12g.101771074C>GCA386303591GNPTABc.855G>C (p.Lys285Asn)
c.774G>C (p.Lys258Asn)
c.639G>C (p.Lys213Asn)
c.-496G>C (n.-496G>C)
12g.101771074C>TCA481321330GNPTABc.855G>A (p.Lys285=)
c.774G>A (p.Lys258=)
c.639G>A (p.Lys213=)
c.-496G>A (n.-496G>A)
12g.101771075T>ACA386303592GNPTABc.854A>T (p.Lys285Met)
c.773A>T (p.Lys258Met)
c.638A>T (p.Lys213Met)
c.-497A>T (n.-497A>T)
12g.101771075T>CCA386303593GNPTABc.854A>G (p.Lys285Arg)
c.773A>G (p.Lys258Arg)
c.638A>G (p.Lys213Arg)
c.-497A>G (n.-497A>G)
12g.101771075T>GCA386303594GNPTABc.854A>C (p.Lys285Thr)
c.773A>C (p.Lys258Thr)
c.638A>C (p.Lys213Thr)
c.-497A>C (n.-497A>C)
12g.101771076T>ACA386303595GNPTABc.853A>T (p.Lys285Ter)
c.772A>T (p.Lys258Ter)
c.637A>T (p.Lys213Ter)
c.-498A>T (n.-498A>T)
12g.101771076T>CCA386303596GNPTABc.853A>G (p.Lys285Glu)
c.772A>G (p.Lys258Glu)
c.637A>G (p.Lys213Glu)
c.-498A>G (n.-498A>G)
 gnomAD v4
12g.101771076T>GCA386303597GNPTABc.853A>C (p.Lys285Gln)
c.772A>C (p.Lys258Gln)
c.637A>C (p.Lys213Gln)
c.-498A>C (n.-498A>C)
12g.101771077A>CCA481321335GNPTABc.852T>G (p.Thr284=)
c.771T>G (p.Thr257=)
c.636T>G (p.Thr212=)
c.-499T>G (n.-499T>G)
12g.101771077A>GCA481321337GNPTABc.852T>C (p.Thr284=)
c.771T>C (p.Thr257=)
c.636T>C (p.Thr212=)
c.-499T>C (n.-499T>C)
12g.101771077A>TCA481321338GNPTABc.852T>A (p.Thr284=)
c.771T>A (p.Thr257=)
c.636T>A (p.Thr212=)
c.-499T>A (n.-499T>A)
12g.101771078G>ACA386303598GNPTABc.851C>T (p.Thr284Ile)
c.770C>T (p.Thr257Ile)
c.635C>T (p.Thr212Ile)
c.-500C>T (n.-500C>T)
12g.101771078G>CCA386303599GNPTABc.851C>G (p.Thr284Ser)
c.770C>G (p.Thr257Ser)
c.635C>G (p.Thr212Ser)
c.-500C>G (n.-500C>G)
12g.101771078G>TCA386303600GNPTABc.851C>A (p.Thr284Asn)
c.770C>A (p.Thr257Asn)
c.635C>A (p.Thr212Asn)
c.-500C>A (n.-500C>A)
12g.101771078_101771079delinsGTCA2058958242GNPTABc.850_851delinsAC (p.Thr284=)
c.769_770delinsAC (p.Thr257=)
c.634_635delinsAC (p.Thr212=)
c.-501_-500delinsAC (n.-501_-500delinsAC)
12g.101771079T>ACA386303602GNPTABc.850A>T (p.Thr284Ser)
c.769A>T (p.Thr257Ser)
c.634A>T (p.Thr212Ser)
c.-501A>T (n.-501A>T)
12g.101771079T>CCA386303601GNPTABc.850A>G (p.Thr284Ala)
c.769A>G (p.Thr257Ala)
c.634A>G (p.Thr212Ala)
c.-501A>G (n.-501A>G)
 gnomAD v4
12g.101771079T>GCA386303603GNPTABc.850A>C (p.Thr284Pro)
c.769A>C (p.Thr257Pro)
c.634A>C (p.Thr212Pro)
c.-501A>C (n.-501A>C)
12g.101771081delCA343087GNPTABc.850del (p.Thr284LeufsTer5)
c.769del (p.Thr257LeufsTer5)
c.634del (p.Thr212LeufsTer5)
c.-501del (n.-501del)
 ClinVar dbSNP gnomAD v4

Number of alleles fetched