Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.169555147_169555153delinsACCTTTGCA1206149174F5c.1118+29_1118+35delinsCAAAGGT (n.1118+29_1118+35delinsCAAAGGT)
c.707+29_707+35delinsCAAAGGT (n.707+29_707+35delinsCAAAGGT)
1g.169555150_169555155delCA1234430F5c.1118+29_1118+34del (n.1118+29_1118+34del)
c.707+29_707+34del (n.707+29_707+34del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169555149C>ACA2649036284F5c.1118+33G>T (n.1118+33G>T)
c.707+33G>T (n.707+33G>T)
 gnomAD v4
1g.169555149_169555152dupCA2649036283F5c.1118+30_1118+33dup (n.1118+30_1118+33dup)
c.707+30_707+33dup (n.707+30_707+33dup)
 gnomAD v4
1g.169555152T>CCA2746577985F5c.1118+30A>G (n.1118+30A>G)
c.707+30A>G (n.707+30A>G)
1g.169555153G>CCA527131341F5c.1118+29C>G (n.1118+29C>G)
c.707+29C>G (n.707+29C>G)
 dbSNP gnomAD v2 gnomAD v4
1g.169555153G=CA1206149175F5c.1118+29C= (n.1118+29C=)
c.707+29C= (n.707+29C=)
1g.169555153G>TCA2649036285F5c.1118+29C>A (n.1118+29C>A)
c.707+29C>A (n.707+29C>A)
 gnomAD v4
1g.169555156delCA2649036286F5c.1118+28del (n.1118+28del)
c.707+28del (n.707+28del)
 gnomAD v4
1g.169555155C>ACA1234431F5c.1118+27G>T (n.1118+27G>T)
c.707+27G>T (n.707+27G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169555155C=CA1206149176F5c.1118+27G= (n.1118+27G=)
c.707+27G= (n.707+27G=)
1g.169555155C>GCA2573946102F5c.1118+27G>C (n.1118+27G>C)
c.707+27G>C (n.707+27G>C)
1g.169555155C>TCA32390534F5c.1118+27G>A (n.1118+27G>A)
c.707+27G>A (n.707+27G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.169555156C=CA1146508896F5c.1118+26G= (n.1118+26G=)
c.707+26G= (n.707+26G=)
1g.169555156C>TCA1234432F5c.1118+26G>A (n.1118+26G>A)
c.707+26G>A (n.707+26G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169555158G>ACA2697243702F5c.1118+24C>T (n.1118+24C>T)
c.707+24C>T (n.707+24C>T)
 dbSNP
1g.169555158G>CCA1234433F5c.1118+24C>G (n.1118+24C>G)
c.707+24C>G (n.707+24C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169555158G=CA1206149181F5c.1118+24C= (n.1118+24C=)
c.707+24C= (n.707+24C=)
1g.169555159T>ACA1008979432F5c.1118+23A>T (n.1118+23A>T)
c.707+23A>T (n.707+23A>T)
 dbSNP gnomAD v3 gnomAD v4
1g.169555159T>CCA2649036287F5c.1118+23A>G (n.1118+23A>G)
c.707+23A>G (n.707+23A>G)
 gnomAD v4
1g.169555159T=CA1206149182F5c.1118+23A= (n.1118+23A=)
c.707+23A= (n.707+23A=)
1g.169555161G=CA1141139502F5c.1118+21C= (n.1118+21C=)
c.707+21C= (n.707+21C=)
1g.169555161G>TCA32390550F5c.1118+21C>A (n.1118+21C>A)
c.707+21C>A (n.707+21C>A)
 dbSNP gnomAD v3 gnomAD v4
1g.169555162T>GCA2649036288F5c.1118+20A>C (n.1118+20A>C)
c.707+20A>C (n.707+20A>C)
 gnomAD v4
1g.169555164T>CCA527131342F5c.1118+18A>G (n.1118+18A>G)
c.707+18A>G (n.707+18A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169555164T=CA1206149185F5c.1118+18A= (n.1118+18A=)
c.707+18A= (n.707+18A=)
1g.169555166A>TCA645972251F5c.1118+16T>A (n.1118+16T>A)
c.707+16T>A (n.707+16T>A)
 COSMIC
1g.169555167A>CCA2649036289F5c.1118+15T>G (n.1118+15T>G)
c.707+15T>G (n.707+15T>G)
 gnomAD v4
1g.169555167_169555168delinsACCA1206149187F5c.1118+14_1118+15delinsGT (n.1118+14_1118+15delinsGT)
c.707+14_707+15delinsGT (n.707+14_707+15delinsGT)
1g.169555168C>ACA1234434F5c.1118+14G>T (n.1118+14G>T)
c.707+14G>T (n.707+14G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169555168C=CA1206149190F5c.1118+14G= (n.1118+14G=)
c.707+14G= (n.707+14G=)
1g.169555168C>TCA527131343F5c.1118+14G>A (n.1118+14G>A)
c.707+14G>A (n.707+14G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169555171delCA527131344F5c.1118+14del (n.1118+14del)
c.707+14del (n.707+14del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169555169C=CA1206149192F5c.1118+13G= (n.1118+13G=)
c.707+13G= (n.707+13G=)
1g.169555169C>TCA527131345F5c.1118+13G>A (n.1118+13G>A)
c.707+13G>A (n.707+13G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.169555170C=CA1143642251F5c.1118+12G= (n.1118+12G=)
c.707+12G= (n.707+12G=)
1g.169555170C>GCA1234435F5c.1118+12G>C (n.1118+12G>C)
c.707+12G>C (n.707+12G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169555171C=CA1206149195F5c.1118+11G= (n.1118+11G=)
c.707+11G= (n.707+11G=)
1g.169555171C>GCA527131346F5c.1118+11G>C (n.1118+11G>C)
c.707+11G>C (n.707+11G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169555171C>TCA1234436F5c.1118+11G>A (n.1118+11G>A)
c.707+11G>A (n.707+11G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169555172A>GCA2697393793F5c.1118+10T>C (n.1118+10T>C)
c.707+10T>C (n.707+10T>C)
 dbSNP
1g.169555173A=CA1206149197F5c.1118+9T= (n.1118+9T=)
c.707+9T= (n.707+9T=)
1g.169555173A>CCA1234437F5c.1118+9T>G (n.1118+9T>G)
c.707+9T>G (n.707+9T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169555174C>ACA2557853871F5c.1118+8G>T (n.1118+8G>T)
c.707+8G>T (n.707+8G>T)
 gnomAD v4
1g.169555174C>TCA2697393965F5c.1118+8G>A (n.1118+8G>A)
c.707+8G>A (n.707+8G>A)
 dbSNP
1g.169555175A>GCA2649036290F5c.1118+7T>C (n.1118+7T>C)
c.707+7T>C (n.707+7T>C)
 gnomAD v4
1g.169555176A=CA1206149199F5c.1118+6T= (n.1118+6T=)
c.707+6T= (n.707+6T=)
1g.169555176A>TCA1008979446F5c.1118+6T>A (n.1118+6T>A)
c.707+6T>A (n.707+6T>A)
 dbSNP
1g.169555177C>ACA2586964374F5c.1118+5G>T (n.1118+5G>T)
c.707+5G>T (n.707+5G>T)
 gnomAD v4
1g.169555177C>TCA2746577986F5c.1118+5G>A (n.1118+5G>A)
c.707+5G>A (n.707+5G>A)
1g.169555178T>ACA2649036291F5c.1118+4A>T (n.1118+4A>T)
c.707+4A>T (n.707+4A>T)
 gnomAD v4
1g.169555179C>ACA2564496457F5c.1118+3G>T (n.1118+3G>T)
c.707+3G>T (n.707+3G>T)
1g.169555179C>TCA2649036292F5c.1118+3G>A (n.1118+3G>A)
c.707+3G>A (n.707+3G>A)
 gnomAD v4
1g.169555180A>CCA343130661F5c.1118+2T>G (n.1118+2T>G)
c.707+2T>G (n.707+2T>G)
 gnomAD v4
1g.169555180A>GCA343130663F5c.1118+2T>C (n.1118+2T>C)
c.707+2T>C (n.707+2T>C)
1g.169555180A>TCA343130664F5c.1118+2T>A (n.1118+2T>A)
c.707+2T>A (n.707+2T>A)
1g.169555181C>ACA343130665F5c.1118+1G>T (n.1118+1G>T)
c.707+1G>T (n.707+1G>T)
1g.169555181C>GCA343130668F5c.1118+1G>C (n.1118+1G>C)
c.707+1G>C (n.707+1G>C)
 gnomAD v4
1g.169555181C>TCA343130674F5c.1118+1G>A (n.1118+1G>A)
c.707+1G>A (n.707+1G>A)
1g.169555182T>ACA343130685F5c.1118A>T (p.Lys373Ile)
c.707A>T (p.Lys236Ile)
1g.169555182T>CCA343130707F5c.1118A>G (p.Lys373Arg)
c.707A>G (p.Lys236Arg)
 dbSNP
1g.169555182T>GCA343130689F5c.1118A>C (p.Lys373Thr)
c.707A>C (p.Lys236Thr)
1g.169555182T=CA1206149200F5c.1118A= (p.Lys373=)
c.707A= (p.Lys236=)
1g.169555183delCA2649036294F5c.1118del (p.Lys374AsnfsTer?)
c.707del (p.Lys237AsnfsTer?)
 gnomAD v4
1g.169555183T>ACA343130711F5c.1117A>T (p.Lys373Ter)
c.706A>T (p.Lys236Ter)
1g.169555183T>CCA343130713F5c.1117A>G (p.Lys373Glu)
c.706A>G (p.Lys236Glu)
1g.169555183T>GCA343130718F5c.1117A>C (p.Lys373Gln)
c.706A>C (p.Lys236Gln)
1g.169555184G>ACA421733492F5c.1116C>T (p.Asp372=)
c.705C>T (p.Asp235=)
1g.169555184G>CCA343130719F5c.1116C>G (p.Asp372Glu)
c.705C>G (p.Asp235Glu)
1g.169555184G>TCA343130720F5c.1116C>A (p.Asp372Glu)
c.705C>A (p.Asp235Glu)
 gnomAD v4
1g.169555185T>ACA32390558F5c.1115A>T (p.Asp372Val)
c.704A>T (p.Asp235Val)
 dbSNP
1g.169555185T>CCA343130733F5c.1115A>G (p.Asp372Gly)
c.704A>G (p.Asp235Gly)
 COSMIC
1g.169555185T>GCA343130738F5c.1115A>C (p.Asp372Ala)
c.704A>C (p.Asp235Ala)
1g.169555185T=CA1143758679F5c.1115A= (p.Asp372=)
c.704A= (p.Asp235=)
1g.169555186C>ACA343130740F5c.1114G>T (p.Asp372Tyr)
c.703G>T (p.Asp235Tyr)
1g.169555186C>GCA343130741F5c.1114G>C (p.Asp372His)
c.703G>C (p.Asp235His)
1g.169555186C>TCA343130742F5c.1114G>A (p.Asp372Asn)
c.703G>A (p.Asp235Asn)
1g.169555187C>ACA343130744F5c.1113G>T (p.Met371Ile)
c.702G>T (p.Met234Ile)
1g.169555187C>GCA343130745F5c.1113G>C (p.Met371Ile)
c.702G>C (p.Met234Ile)
1g.169555187C>TCA343130743F5c.1113G>A (p.Met371Ile)
c.702G>A (p.Met234Ile)
 gnomAD v4
1g.169555188A=CA1143486382F5c.1112T= (p.Met371=)
c.701T= (p.Met234=)
1g.169555188A>CCA343130776F5c.1112T>G (p.Met371Arg)
c.701T>G (p.Met234Arg)
1g.169555188A>GCA32390559F5c.1112T>C (p.Met371Thr)
c.701T>C (p.Met234Thr)
 dbSNP
1g.169555188A>TCA343130749F5c.1112T>A (p.Met371Lys)
c.701T>A (p.Met234Lys)
1g.169555189T>ACA343130788F5c.1111A>T (p.Met371Leu)
c.700A>T (p.Met234Leu)
1g.169555189T>CCA343130791F5c.1111A>G (p.Met371Val)
c.700A>G (p.Met234Val)
1g.169555189T>GCA343130823F5c.1111A>C (p.Met371Leu)
c.700A>C (p.Met234Leu)
1g.169555190A=CA1206149205F5c.1110T= (p.Asn370=)
c.699T= (p.Asn233=)
1g.169555190A>CCA343130824F5c.1110T>G (p.Asn370Lys)
c.699T>G (p.Asn233Lys)
1g.169555190A>GCA1234438F5c.1110T>C (p.Asn370=)
c.699T>C (p.Asn233=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169555190A>TCA343130829F5c.1110T>A (p.Asn370Lys)
c.699T>A (p.Asn233Lys)
1g.169555191T>ACA343130836F5c.1109A>T (p.Asn370Ile)
c.698A>T (p.Asn233Ile)
1g.169555191T>CCA343130839F5c.1109A>G (p.Asn370Ser)
c.698A>G (p.Asn233Ser)
1g.169555191T>GCA343130851F5c.1109A>C (p.Asn370Thr)
c.698A>C (p.Asn233Thr)
1g.169555192T>ACA343130853F5c.1108A>T (p.Asn370Tyr)
c.697A>T (p.Asn233Tyr)
1g.169555192T>CCA343130864F5c.1108A>G (p.Asn370Asp)
c.697A>G (p.Asn233Asp)
1g.169555192T>GCA343130869F5c.1108A>C (p.Asn370His)
c.697A>C (p.Asn233His)
1g.169555193C>ACA421733521F5c.1107G>T (p.Ala369=)
c.696G>T (p.Ala232=)
1g.169555193C=CA1206149207F5c.1107G= (p.Ala369=)
c.696G= (p.Ala232=)
1g.169555193C>GCA421733523F5c.1107G>C (p.Ala369=)
c.696G>C (p.Ala232=)
1g.169555193C>TCA1234439F5c.1107G>A (p.Ala369=)
c.696G>A (p.Ala232=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.169555193_169555194delinsTTCA645528099F5c.1106_1107delinsAA (p.Ala369Glu)
c.695_696delinsAA (p.Ala232Glu)
 COSMIC
1g.169555194G>ACA1234440F5c.1106C>T (p.Ala369Val)
c.695C>T (p.Ala232Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.169555194G>CCA343130876F5c.1106C>G (p.Ala369Gly)
c.695C>G (p.Ala232Gly)
1g.169555194G=CA1143450548F5c.1106C= (p.Ala369=)
c.695C= (p.Ala232=)
1g.169555194G>TCA343130877F5c.1106C>A (p.Ala369Glu)
c.695C>A (p.Ala232Glu)
1g.169555195C>ACA343130878F5c.1105G>T (p.Ala369Ser)
c.694G>T (p.Ala232Ser)
1g.169555195C>GCA343130879F5c.1105G>C (p.Ala369Pro)
c.694G>C (p.Ala232Pro)
1g.169555195C>TCA343130880F5c.1105G>A (p.Ala369Thr)
c.694G>A (p.Ala232Thr)
1g.169555196T>ACA421733533F5c.1104A>T (p.Pro368=)
c.693A>T (p.Pro231=)
1g.169555196T>CCA421733534F5c.1104A>G (p.Pro368=)
c.693A>G (p.Pro231=)
1g.169555196T>GCA421733536F5c.1104A>C (p.Pro368=)
c.693A>C (p.Pro231=)
1g.169555197G>ACA343130881F5c.1103C>T (p.Pro368Leu)
c.692C>T (p.Pro231Leu)
1g.169555197G>CCA343130883F5c.1103C>G (p.Pro368Arg)
c.692C>G (p.Pro231Arg)
1g.169555197G>TCA343130887F5c.1103C>A (p.Pro368Gln)
c.692C>A (p.Pro231Gln)
1g.169555198G>ACA343130888F5c.1102C>T (p.Pro368Ser)
c.691C>T (p.Pro231Ser)
 gnomAD v4
1g.169555198G>CCA1234441F5c.1102C>G (p.Pro368Ala)
c.691C>G (p.Pro231Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169555198G=CA1206149219F5c.1102C= (p.Pro368=)
c.691C= (p.Pro231=)
1g.169555198G>TCA343130890F5c.1102C>A (p.Pro368Thr)
c.691C>A (p.Pro231Thr)
 gnomAD v4
1g.169555199T>ACA421733545F5c.1101A>T (p.Ile367=)
c.690A>T (p.Ile230=)
 dbSNP
1g.169555199T>CCA343130906F5c.1101A>G (p.Ile367Met)
c.690A>G (p.Ile230Met)
1g.169555199T>GCA421733548F5c.1101A>C (p.Ile367=)
c.690A>C (p.Ile230=)
1g.169555199T=CA1206149224F5c.1101A= (p.Ile367=)
c.690A= (p.Ile230=)
1g.169555200A>CCA343130919F5c.1100T>G (p.Ile367Arg)
c.689T>G (p.Ile230Arg)
 gnomAD v4
1g.169555200A>GCA343130918F5c.1100T>C (p.Ile367Thr)
c.689T>C (p.Ile230Thr)
1g.169555200A>TCA343130913F5c.1100T>A (p.Ile367Lys)
c.689T>A (p.Ile230Lys)
1g.169555201T>ACA343130922F5c.1099A>T (p.Ile367Leu)
c.688A>T (p.Ile230Leu)
1g.169555201T>CCA343130926F5c.1099A>G (p.Ile367Val)
c.688A>G (p.Ile230Val)
1g.169555201T>GCA343130940F5c.1099A>C (p.Ile367Leu)
c.688A>C (p.Ile230Leu)
1g.169555202T>ACA421733556F5c.1098A>T (p.Val366=)
c.687A>T (p.Val229=)
1g.169555202T>CCA421733559F5c.1098A>G (p.Val366=)
c.687A>G (p.Val229=)
 gnomAD v4
1g.169555202T>GCA421733558F5c.1098A>C (p.Val366=)
c.687A>C (p.Val229=)
1g.169555203A=CA1206149228F5c.1097T= (p.Val366=)
c.686T= (p.Val229=)
1g.169555203A>CCA343130943F5c.1097T>G (p.Val366Gly)
c.686T>G (p.Val229Gly)
 dbSNP gnomAD v4
1g.169555203A>GCA343130947F5c.1097T>C (p.Val366Ala)
c.686T>C (p.Val229Ala)
1g.169555203A>TCA343130951F5c.1097T>A (p.Val366Glu)
c.686T>A (p.Val229Glu)
1g.169555204C>ACA343130958F5c.1096G>T (p.Val366Leu)
c.685G>T (p.Val229Leu)
1g.169555204C>GCA343130956F5c.1096G>C (p.Val366Leu)
c.685G>C (p.Val229Leu)
1g.169555204C>TCA343130954F5c.1096G>A (p.Val366Ile)
c.685G>A (p.Val229Ile)
1g.169555205A>CCA421733567F5c.1095T>G (p.Pro365=)
c.684T>G (p.Pro228=)
1g.169555205A>GCA421733569F5c.1095T>C (p.Pro365=)
c.684T>C (p.Pro228=)
 gnomAD v4
1g.169555205A>TCA421733571F5c.1095T>A (p.Pro365=)
c.684T>A (p.Pro228=)
1g.169555206G>ACA343130961F5c.1094C>T (p.Pro365Leu)
c.683C>T (p.Pro228Leu)
 dbSNP gnomAD v4
1g.169555206G>CCA343130962F5c.1094C>G (p.Pro365Arg)
c.683C>G (p.Pro228Arg)
1g.169555206G=CA1206149232F5c.1094C= (p.Pro365=)
c.683C= (p.Pro228=)
1g.169555206G>TCA343130967F5c.1094C>A (p.Pro365His)
c.683C>A (p.Pro228His)
1g.169555207G>ACA343130974F5c.1093C>T (p.Pro365Ser)
c.682C>T (p.Pro228Ser)
1g.169555207G>CCA343130975F5c.1093C>G (p.Pro365Ala)
c.682C>G (p.Pro228Ala)
1g.169555207G>TCA343130978F5c.1093C>A (p.Pro365Thr)
c.682C>A (p.Pro228Thr)
1g.169555208T>ACA421733577F5c.1092A>T (p.Ala364=)
c.681A>T (p.Ala227=)
1g.169555208T>CCA421733579F5c.1092A>G (p.Ala364=)
c.681A>G (p.Ala227=)
1g.169555208T>GCA421733581F5c.1092A>C (p.Ala364=)
c.681A>C (p.Ala227=)
1g.169555209G>ACA343130982F5c.1091C>T (p.Ala364Val)
c.680C>T (p.Ala227Val)
1g.169555209G>CCA343130987F5c.1091C>G (p.Ala364Gly)
c.680C>G (p.Ala227Gly)
 gnomAD v4
1g.169555209G>TCA343130984F5c.1091C>A (p.Ala364Glu)
c.680C>A (p.Ala227Glu)
1g.169555210C>ACA343130996F5c.1090G>T (p.Ala364Ser)
c.679G>T (p.Ala227Ser)
1g.169555210C>GCA343130999F5c.1090G>C (p.Ala364Pro)
c.679G>C (p.Ala227Pro)
1g.169555210C>TCA343131000F5c.1090G>A (p.Ala364Thr)
c.679G>A (p.Ala227Thr)
1g.169555211A=CA1206149234F5c.1089T= (p.Tyr363=)
c.678T= (p.Tyr226=)
1g.169555211A>CCA343131003F5c.1089T>G (p.Tyr363Ter)
c.678T>G (p.Tyr226Ter)
1g.169555211A>GCA421733590F5c.1089T>C (p.Tyr363=)
c.678T>C (p.Tyr226=)
 ClinVar dbSNP COSMIC
1g.169555211A>TCA343131005F5c.1089T>A (p.Tyr363Ter)
c.678T>A (p.Tyr226Ter)
1g.169555212T>ACA343131008F5c.1088A>T (p.Tyr363Phe)
c.677A>T (p.Tyr226Phe)
1g.169555212T>CCA343131010F5c.1088A>G (p.Tyr363Cys)
c.677A>G (p.Tyr226Cys)
1g.169555212T>GCA343131012F5c.1088A>C (p.Tyr363Ser)
c.677A>C (p.Tyr226Ser)
1g.169555213A=CA1206149235F5c.1087T= (p.Tyr363=)
c.676T= (p.Tyr226=)
1g.169555213A>CCA343131014F5c.1087T>G (p.Tyr363Asp)
c.676T>G (p.Tyr226Asp)
1g.169555213A>GCA343131017F5c.1087T>C (p.Tyr363His)
c.676T>C (p.Tyr226His)
 dbSNP gnomAD v4
1g.169555213A>TCA343131020F5c.1087T>A (p.Tyr363Asn)
c.676T>A (p.Tyr226Asn)
1g.169555214G>ACA1234442F5c.1086C>T (p.Asp362=)
c.675C>T (p.Asp225=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169555214G>CCA343131060F5c.1086C>G (p.Asp362Glu)
c.675C>G (p.Asp225Glu)
 gnomAD v4
1g.169555214G=CA1142210869F5c.1086C= (p.Asp362=)
c.675C= (p.Asp225=)
1g.169555214G>TCA343131055F5c.1086C>A (p.Asp362Glu)
c.675C>A (p.Asp225Glu)
1g.169555215T>ACA343131061F5c.1085A>T (p.Asp362Val)
c.674A>T (p.Asp225Val)
1g.169555215T>CCA343131063F5c.1085A>G (p.Asp362Gly)
c.674A>G (p.Asp225Gly)
1g.169555215T>GCA343131062F5c.1085A>C (p.Asp362Ala)
c.674A>C (p.Asp225Ala)
1g.169555216C>ACA343131064F5c.1084G>T (p.Asp362Tyr)
c.673G>T (p.Asp225Tyr)
1g.169555216C=CA1206149245F5c.1084G= (p.Asp362=)
c.673G= (p.Asp225=)
1g.169555216C>GCA343131065F5c.1084G>C (p.Asp362His)
c.673G>C (p.Asp225His)
1g.169555216C>TCA32390569F5c.1084G>A (p.Asp362Asn)
c.673G>A (p.Asp225Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.169555217C>ACA343131097F5c.1083G>T (p.Trp361Cys)
c.672G>T (p.Trp224Cys)
1g.169555217C>GCA343131106F5c.1083G>C (p.Trp361Cys)
c.672G>C (p.Trp224Cys)
1g.169555217C>TCA343131103F5c.1083G>A (p.Trp361Ter)
c.672G>A (p.Trp224Ter)
1g.169555218C>ACA343131122F5c.1082G>T (p.Trp361Leu)
c.671G>T (p.Trp224Leu)
1g.169555218C>GCA343131125F5c.1082G>C (p.Trp361Ser)
c.671G>C (p.Trp224Ser)
1g.169555218C>TCA343131138F5c.1082G>A (p.Trp361Ter)
c.671G>A (p.Trp224Ter)
1g.169555219A>CCA343131143F5c.1081T>G (p.Trp361Gly)
c.670T>G (p.Trp224Gly)
1g.169555219A>GCA343131145F5c.1081T>C (p.Trp361Arg)
c.670T>C (p.Trp224Arg)
1g.169555219A>TCA343131150F5c.1081T>A (p.Trp361Arg)
c.670T>A (p.Trp224Arg)
1g.169555220A=CA1206149247F5c.1080T= (p.Ile360=)
c.669T= (p.Ile223=)
1g.169555220A>CCA343131160F5c.1080T>G (p.Ile360Met)
c.669T>G (p.Ile223Met)
1g.169555220A>GCA421733623F5c.1080T>C (p.Ile360=)
c.669T>C (p.Ile223=)
 dbSNP
1g.169555220A>TCA421733624F5c.1080T>A (p.Ile360=)
c.669T>A (p.Ile223=)
1g.169555221A>CCA343131164F5c.1079T>G (p.Ile360Ser)
c.668T>G (p.Ile223Ser)
1g.169555221A>GCA343131166F5c.1079T>C (p.Ile360Thr)
c.668T>C (p.Ile223Thr)
1g.169555221A>TCA343131168F5c.1079T>A (p.Ile360Asn)
c.668T>A (p.Ile223Asn)
1g.169555221_169555222delinsATCA1206149250F5c.1078_1079delinsAT (p.Ile360=)
c.667_668delinsAT (p.Ile223=)
1g.169555222delCA1234443F5c.1078del (p.Ile360PhefsTer7)
c.667del (p.Ile223PhefsTer7)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169555222T>ACA343131179F5c.1078A>T (p.Ile360Phe)
c.667A>T (p.Ile223Phe)
1g.169555222T>CCA343131173F5c.1078A>G (p.Ile360Val)
c.667A>G (p.Ile223Val)
 gnomAD v4
1g.169555222T>GCA343131177F5c.1078A>C (p.Ile360Leu)
c.667A>C (p.Ile223Leu)
1g.169555223delCA343131180F5c.1077del (p.Ile360PhefsTer7)
c.666del (p.Ile223PhefsTer7)
1g.169555223G>ACA421733634F5c.1077C>T (p.Val359=)
c.666C>T (p.Val222=)
1g.169555223G>CCA421733632F5c.1077C>G (p.Val359=)
c.666C>G (p.Val222=)
1g.169555223G>TCA421733629F5c.1077C>A (p.Val359=)
c.666C>A (p.Val222=)
 gnomAD v4
1g.169555224A>CCA343131182F5c.1076T>G (p.Val359Gly)
c.665T>G (p.Val222Gly)
 gnomAD v4
1g.169555224A>GCA343131185F5c.1076T>C (p.Val359Ala)
c.665T>C (p.Val222Ala)
1g.169555224A>TCA343131187F5c.1076T>A (p.Val359Asp)
c.665T>A (p.Val222Asp)
1g.169555225C>ACA343131191F5c.1075G>T (p.Val359Phe)
c.664G>T (p.Val222Phe)
1g.169555225C>GCA343131192F5c.1075G>C (p.Val359Leu)
c.664G>C (p.Val222Leu)
1g.169555225C>TCA343131194F5c.1075G>A (p.Val359Ile)
c.664G>A (p.Val222Ile)
1g.169555226T>ACA343131198F5c.1074A>T (p.Glu358Asp)
c.663A>T (p.Glu221Asp)
1g.169555226T>CCA421733643F5c.1074A>G (p.Glu358=)
c.663A>G (p.Glu221=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169555226T>GCA343131201F5c.1074A>C (p.Glu358Asp)
c.663A>C (p.Glu221Asp)
1g.169555226T=CA1206149255F5c.1074A= (p.Glu358=)
c.663A= (p.Glu221=)
1g.169555227T>ACA343131207F5c.1073A>T (p.Glu358Val)
c.662A>T (p.Glu221Val)
1g.169555227T>CCA343131208F5c.1073A>G (p.Glu358Gly)
c.662A>G (p.Glu221Gly)
1g.169555227T>GCA343131206F5c.1073A>C (p.Glu358Ala)
c.662A>C (p.Glu221Ala)
1g.169555228C>ACA343131209F5c.1072G>T (p.Glu358Ter)
c.661G>T (p.Glu221Ter)
1g.169555228C=CA1206149259F5c.1072G= (p.Glu358=)
c.661G= (p.Glu221=)
1g.169555228C>GCA1234444F5c.1072G>C (p.Glu358Gln)
c.661G>C (p.Glu221Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169555228C>TCA343131210F5c.1072G>A (p.Glu358Lys)
c.661G>A (p.Glu221Lys)
1g.169555229C>ACA343131214F5c.1071G>T (p.Glu357Asp)
c.660G>T (p.Glu220Asp)
1g.169555229C=CA1206149262F5c.1071G= (p.Glu357=)
c.660G= (p.Glu220=)
1g.169555229C>GCA343131224F5c.1071G>C (p.Glu357Asp)
c.660G>C (p.Glu220Asp)
1g.169555229C>TCA421733652F5c.1071G>A (p.Glu357=)
c.660G>A (p.Glu220=)
 dbSNP
1g.169555230T>ACA343131228F5c.1070A>T (p.Glu357Val)
c.659A>T (p.Glu220Val)
1g.169555230T>CCA343131232F5c.1070A>G (p.Glu357Gly)
c.659A>G (p.Glu220Gly)
 gnomAD v4
1g.169555230T>GCA343131240F5c.1070A>C (p.Glu357Ala)
c.659A>C (p.Glu220Ala)
1g.169555231C>ACA343131243F5c.1069G>T (p.Glu357Ter)
c.658G>T (p.Glu220Ter)
1g.169555231C>GCA343131258F5c.1069G>C (p.Glu357Gln)
c.658G>C (p.Glu220Gln)
 COSMIC
1g.169555231C>TCA343131262F5c.1069G>A (p.Glu357Lys)
c.658G>A (p.Glu220Lys)
1g.169555232T>ACA421733662F5c.1068A>T (p.Ala356=)
c.657A>T (p.Ala219=)
1g.169555232T>CCA421733664F5c.1068A>G (p.Ala356=)
c.657A>G (p.Ala219=)
1g.169555232T>GCA421733666F5c.1068A>C (p.Ala356=)
c.657A>C (p.Ala219=)
1g.169555233G>ACA343131266F5c.1067C>T (p.Ala356Val)
c.656C>T (p.Ala219Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169555233G>CCA343131267F5c.1067C>G (p.Ala356Gly)
c.656C>G (p.Ala219Gly)
1g.169555233G=CA1206149266F5c.1067C= (p.Ala356=)
c.656C= (p.Ala219=)
1g.169555233G>TCA343131264F5c.1067C>A (p.Ala356Glu)
c.656C>A (p.Ala219Glu)
1g.169555234C>ACA343131269F5c.1066G>T (p.Ala356Ser)
c.655G>T (p.Ala219Ser)
1g.169555234C=CA1206149269F5c.1066G= (p.Ala356=)
c.655G= (p.Ala219=)
1g.169555234C>GCA343131271F5c.1066G>C (p.Ala356Pro)
c.655G>C (p.Ala219Pro)
1g.169555234C>TCA343131275F5c.1066G>A (p.Ala356Thr)
c.655G>A (p.Ala219Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.169555235A>CCA421733676F5c.1065T>G (p.Ala355=)
c.654T>G (p.Ala218=)
1g.169555235A>GCA421733678F5c.1065T>C (p.Ala355=)
c.654T>C (p.Ala218=)
1g.169555235A>TCA421733680F5c.1065T>A (p.Ala355=)
c.654T>A (p.Ala218=)
1g.169555236G>ACA343131279F5c.1064C>T (p.Ala355Val)
c.653C>T (p.Ala218Val)
1g.169555236G>CCA343131281F5c.1064C>G (p.Ala355Gly)
c.653C>G (p.Ala218Gly)
1g.169555236G>TCA343131289F5c.1064C>A (p.Ala355Asp)
c.653C>A (p.Ala218Asp)
 COSMIC
1g.169555237delCA2586964376F5c.1063del (p.Ala355LeufsTer12)
c.652del (p.Ala218LeufsTer12)
1g.169555237C>ACA343131292F5c.1063G>T (p.Ala355Ser)
c.652G>T (p.Ala218Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.169555237C=CA1206149270F5c.1063G= (p.Ala355=)
c.652G= (p.Ala218=)
1g.169555237C>GCA343131318F5c.1063G>C (p.Ala355Pro)
c.652G>C (p.Ala218Pro)
1g.169555237C>TCA343131297F5c.1063G>A (p.Ala355Thr)
c.652G>A (p.Ala218Thr)
1g.169555238A=CA1206149272F5c.1062T= (p.Ile354=)
c.651T= (p.Ile217=)
1g.169555238A>CCA343131321F5c.1062T>G (p.Ile354Met)
c.651T>G (p.Ile217Met)
 ClinVar dbSNP
1g.169555238A>GCA421733691F5c.1062T>C (p.Ile354=)
c.651T>C (p.Ile217=)
 dbSNP gnomAD v2 gnomAD v4
1g.169555238A>TCA421733693F5c.1062T>A (p.Ile354=)
c.651T>A (p.Ile217=)
1g.169555239A=CA1143911972F5c.1061T= (p.Ile354=)
c.650T= (p.Ile217=)
1g.169555239A>CCA343131324F5c.1061T>G (p.Ile354Ser)
c.650T>G (p.Ile217Ser)
1g.169555239A>GCA1234445F5c.1061T>C (p.Ile354Thr)
c.650T>C (p.Ile217Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169555239A>TCA343131333F5c.1061T>A (p.Ile354Asn)
c.650T>A (p.Ile217Asn)
1g.169555240T>ACA343131351F5c.1060A>T (p.Ile354Phe)
c.649A>T (p.Ile217Phe)
1g.169555240T>CCA343131347F5c.1060A>G (p.Ile354Val)
c.649A>G (p.Ile217Val)
1g.169555240T>GCA343131340F5c.1060A>C (p.Ile354Leu)
c.649A>C (p.Ile217Leu)
1g.169555241G>ACA421733702F5c.1059C>T (p.Phe353=)
c.648C>T (p.Phe216=)
 dbSNP gnomAD v3 gnomAD v4
1g.169555241G>CCA1234446F5c.1059C>G (p.Phe353Leu)
c.648C>G (p.Phe216Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169555241G=CA1143423797F5c.1059C= (p.Phe353=)
c.648C= (p.Phe216=)
1g.169555241G>TCA343131356F5c.1059C>A (p.Phe353Leu)
c.648C>A (p.Phe216Leu)
1g.169555242A>CCA343131359F5c.1058T>G (p.Phe353Cys)
c.647T>G (p.Phe216Cys)
1g.169555242A>GCA343131362F5c.1058T>C (p.Phe353Ser)
c.647T>C (p.Phe216Ser)
1g.169555242A>TCA343131366F5c.1058T>A (p.Phe353Tyr)
c.647T>A (p.Phe216Tyr)
1g.169555243A=CA1206149282F5c.1057T= (p.Phe353=)
c.646T= (p.Phe216=)
1g.169555243A>CCA343131383F5c.1057T>G (p.Phe353Val)
c.646T>G (p.Phe216Val)
 dbSNP gnomAD v2 gnomAD v4
1g.169555243A>GCA343131386F5c.1057T>C (p.Phe353Leu)
c.646T>C (p.Phe216Leu)
 gnomAD v4
1g.169555243A>TCA343131387F5c.1057T>A (p.Phe353Ile)
c.646T>A (p.Phe216Ile)
1g.169555244G>ACA421733716F5c.1056C>T (p.Tyr352=)
c.645C>T (p.Tyr215=)
 dbSNP gnomAD v4
1g.169555244G>CCA343131388F5c.1056C>G (p.Tyr352Ter)
c.645C>G (p.Tyr215Ter)
1g.169555244G=CA1206149284F5c.1056C= (p.Tyr352=)
c.645C= (p.Tyr215=)
1g.169555244G>TCA343131389F5c.1056C>A (p.Tyr352Ter)
c.645C>A (p.Tyr215Ter)
1g.169555245T>ACA343131390F5c.1055A>T (p.Tyr352Phe)
c.644A>T (p.Tyr215Phe)
 gnomAD v4
1g.169555245T>CCA343131391F5c.1055A>G (p.Tyr352Cys)
c.644A>G (p.Tyr215Cys)
 gnomAD v4
1g.169555245T>GCA343131394F5c.1055A>C (p.Tyr352Ser)
c.644A>C (p.Tyr215Ser)
1g.169555245_169555248dupCA2649036322F5c.1052_1055dup (p.Tyr352Ter)
c.641_644dup (p.Tyr215Ter)
 gnomAD v4
1g.169555246A=CA1206149287F5c.1054T= (p.Tyr352=)
c.643T= (p.Tyr215=)
1g.169555246A>CCA343131405F5c.1054T>G (p.Tyr352Asp)
c.643T>G (p.Tyr215Asp)
1g.169555246A>GCA343131398F5c.1054T>C (p.Tyr352His)
c.643T>C (p.Tyr215His)
 dbSNP gnomAD v2 gnomAD v4
1g.169555246A>TCA343131404F5c.1054T>A (p.Tyr352Asn)
c.643T>A (p.Tyr215Asn)
1g.169555247T>ACA343131407F5c.1053A>T (p.Glu351Asp)
c.642A>T (p.Glu214Asp)
1g.169555247T>CCA421733739F5c.1053A>G (p.Glu351=)
c.642A>G (p.Glu214=)
1g.169555247T>GCA343131410F5c.1053A>C (p.Glu351Asp)
c.642A>C (p.Glu214Asp)
1g.169555248T>ACA343131418F5c.1052A>T (p.Glu351Val)
c.641A>T (p.Glu214Val)
1g.169555248T>CCA343131423F5c.1052A>G (p.Glu351Gly)
c.641A>G (p.Glu214Gly)
1g.169555248T>GCA343131426F5c.1052A>C (p.Glu351Ala)
c.641A>C (p.Glu214Ala)
1g.169555249C>ACA343131430F5c.1051G>T (p.Glu351Ter)
c.640G>T (p.Glu214Ter)
1g.169555249C>GCA343131432F5c.1051G>C (p.Glu351Gln)
c.640G>C (p.Glu214Gln)
1g.169555249C>TCA343131436F5c.1051G>A (p.Glu351Lys)
c.640G>A (p.Glu214Lys)

Number of alleles fetched