Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.99862218_99862219delinsTCCA1183924192AGLc.294-39_294-38delinsTC (n.294-39_294-38delinsTC)
n.505-39_505-38delinsTC
c.246-39_246-38delinsTC (n.246-39_246-38delinsTC)
c.243-39_243-38delinsTC (n.243-39_243-38delinsTC)
1g.99862219delCA524878362AGLc.294-38del (n.294-38del)
n.505-38del
c.246-38del (n.246-38del)
c.243-38del (n.243-38del)
 dbSNP gnomAD v2 gnomAD v4
1g.99862219C>ACA966114AGLc.294-38C>A (n.294-38C>A)
n.505-38C>A
c.246-38C>A (n.246-38C>A)
c.243-38C>A (n.243-38C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99862219C=CA1143861216AGLc.294-38C= (n.294-38C=)
n.505-38C=
c.246-38C= (n.246-38C=)
c.243-38C= (n.243-38C=)
1g.99862219_99862223delinsCACTGCA1183924195AGLc.294-38_294-34delinsCACTG (n.294-38_294-34delinsCACTG)
n.505-38_505-34delinsCACTG
c.246-38_246-34delinsCACTG (n.246-38_246-34delinsCACTG)
c.243-38_243-34delinsCACTG (n.243-38_243-34delinsCACTG)
1g.99862220A>GCA2646735163AGLc.294-37A>G (n.294-37A>G)
n.505-37A>G
c.246-37A>G (n.246-37A>G)
c.243-37A>G (n.243-37A>G)
 gnomAD v4
1g.99862225_99862228delCA741018981AGLc.294-32_294-29del (n.294-32_294-29del)
n.505-32_505-29del
c.246-32_246-29del (n.246-32_246-29del)
c.243-32_243-29del (n.243-32_243-29del)
 dbSNP
1g.99862221C>GCA2646735165AGLc.294-36C>G (n.294-36C>G)
n.505-36C>G
c.246-36C>G (n.246-36C>G)
c.243-36C>G (n.243-36C>G)
 gnomAD v4
1g.99862222T>CCA966115AGLc.294-35T>C (n.294-35T>C)
n.505-35T>C
c.246-35T>C (n.246-35T>C)
c.243-35T>C (n.243-35T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99862222T=CA1183924198AGLc.294-35T= (n.294-35T=)
n.505-35T=
c.246-35T= (n.246-35T=)
c.243-35T= (n.243-35T=)
1g.99862223G>TCA2646735167AGLc.294-34G>T (n.294-34G>T)
n.505-34G>T
c.246-34G>T (n.246-34G>T)
c.243-34G>T (n.243-34G>T)
 gnomAD v4
1g.99862224delCA2574444257AGLc.294-33del (n.294-33del)
n.505-33del
c.246-33del (n.246-33del)
c.243-33del (n.243-33del)
1g.99862225C>ACA1183924202AGLc.294-32C>A (n.294-32C>A)
n.505-32C>A
c.246-32C>A (n.246-32C>A)
c.243-32C>A (n.243-32C>A)
 dbSNP
1g.99862225C=CA1183924201AGLc.294-32C= (n.294-32C=)
n.505-32C=
c.246-32C= (n.246-32C=)
c.243-32C= (n.243-32C=)
1g.99862225C>GCA2574444258AGLc.294-32C>G (n.294-32C>G)
n.505-32C>G
c.246-32C>G (n.246-32C>G)
c.243-32C>G (n.243-32C>G)
1g.99862226T>CCA27561119AGLc.294-31T>C (n.294-31T>C)
n.505-31T>C
c.246-31T>C (n.246-31T>C)
c.243-31T>C (n.243-31T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99862226T=CA1143462327AGLc.294-31T= (n.294-31T=)
n.505-31T=
c.246-31T= (n.246-31T=)
c.243-31T= (n.243-31T=)
1g.99862226_99862227delinsTGCA1183924206AGLc.294-31_294-30delinsTG (n.294-31_294-30delinsTG)
n.505-31_505-30delinsTG
c.246-31_246-30delinsTG (n.246-31_246-30delinsTG)
c.243-31_243-30delinsTG (n.243-31_243-30delinsTG)
1g.99862227delCA966116AGLc.294-30del (n.294-30del)
n.505-30del
c.246-30del (n.246-30del)
c.243-30del (n.243-30del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862227G>CCA966117AGLc.294-30G>C (n.294-30G>C)
n.505-30G>C
c.246-30G>C (n.246-30G>C)
c.243-30G>C (n.243-30G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862227G=CA1144162515AGLc.294-30G= (n.294-30G=)
n.505-30G=
c.246-30G= (n.246-30G=)
c.243-30G= (n.243-30G=)
1g.99862229A=CA1183924212AGLc.294-28A= (n.294-28A=)
n.505-28A=
c.246-28A= (n.246-28A=)
c.243-28A= (n.243-28A=)
1g.99862229A>GCA966118AGLc.294-28A>G (n.294-28A>G)
n.505-28A>G
c.246-28A>G (n.246-28A>G)
c.243-28A>G (n.243-28A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862232G>ACA524878363AGLc.294-25G>A (n.294-25G>A)
n.505-25G>A
c.246-25G>A (n.246-25G>A)
c.243-25G>A (n.243-25G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.99862232G=CA1183924214AGLc.294-25G= (n.294-25G=)
n.505-25G=
c.246-25G= (n.246-25G=)
c.243-25G= (n.243-25G=)
1g.99862232G>TCA2646735176AGLc.294-25G>T (n.294-25G>T)
n.505-25G>T
c.246-25G>T (n.246-25G>T)
c.243-25G>T (n.243-25G>T)
 gnomAD v4
1g.99862233T>CCA1183924217AGLc.294-24T>C (n.294-24T>C)
n.505-24T>C
c.246-24T>C (n.246-24T>C)
c.243-24T>C (n.243-24T>C)
 dbSNP
1g.99862233T>GCA524878364AGLc.294-24T>G (n.294-24T>G)
n.505-24T>G
c.246-24T>G (n.246-24T>G)
c.243-24T>G (n.243-24T>G)
 dbSNP gnomAD v2 gnomAD v4
1g.99862233T=CA1183924215AGLc.294-24T= (n.294-24T=)
n.505-24T=
c.246-24T= (n.246-24T=)
c.243-24T= (n.243-24T=)
1g.99862237delCA2646735178AGLc.294-20del (n.294-20del)
n.505-20del
c.246-20del (n.246-20del)
c.243-20del (n.243-20del)
 gnomAD v4
1g.99862234T>ACA2744753736AGLc.294-23T>A (n.294-23T>A)
n.505-23T>A
c.246-23T>A (n.246-23T>A)
c.243-23T>A (n.243-23T>A)
1g.99862243_99862247delCA2646735180AGLc.294-14_294-10del (n.294-14_294-10del)
n.505-14_505-10del
c.246-14_246-10del (n.246-14_246-10del)
c.243-14_243-10del (n.243-14_243-10del)
 gnomAD v4
1g.99862235T>GCA2646735181AGLc.294-22T>G (n.294-22T>G)
n.505-22T>G
c.246-22T>G (n.246-22T>G)
c.243-22T>G (n.243-22T>G)
 gnomAD v4
1g.99862237T>CCA741018991AGLc.294-20T>C (n.294-20T>C)
n.505-20T>C
c.246-20T>C (n.246-20T>C)
c.243-20T>C (n.243-20T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99862237T=CA1183924220AGLc.294-20T= (n.294-20T=)
n.505-20T=
c.246-20T= (n.246-20T=)
c.243-20T= (n.243-20T=)
1g.99862238G>ACA2646735183AGLc.294-19G>A (n.294-19G>A)
n.505-19G>A
c.246-19G>A (n.246-19G>A)
c.243-19G>A (n.243-19G>A)
 gnomAD v4
1g.99862238G>CCA2646735187AGLc.294-19G>C (n.294-19G>C)
n.505-19G>C
c.246-19G>C (n.246-19G>C)
c.243-19G>C (n.243-19G>C)
 gnomAD v4
1g.99862238G=CA1183924222AGLc.294-19G= (n.294-19G=)
n.505-19G=
c.246-19G= (n.246-19G=)
c.243-19G= (n.243-19G=)
1g.99862238G>TCA524878365AGLc.294-19G>T (n.294-19G>T)
n.505-19G>T
c.246-19G>T (n.246-19G>T)
c.243-19G>T (n.243-19G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99862239T>CCA966119AGLc.294-18T>C (n.294-18T>C)
n.505-18T>C
c.246-18T>C (n.246-18T>C)
c.243-18T>C (n.243-18T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99862239T=CA1183924223AGLc.294-18T= (n.294-18T=)
n.505-18T=
c.246-18T= (n.246-18T=)
c.243-18T= (n.243-18T=)
1g.99862240T>ACA1183924227AGLc.294-17T>A (n.294-17T>A)
n.505-17T>A
c.246-17T>A (n.246-17T>A)
c.243-17T>A (n.243-17T>A)
 dbSNP
1g.99862240T=CA1183924226AGLc.294-17T= (n.294-17T=)
n.505-17T=
c.246-17T= (n.246-17T=)
c.243-17T= (n.243-17T=)
1g.99862242T>CCA1004942949AGLc.294-15T>C (n.294-15T>C)
n.505-15T>C
c.246-15T>C (n.246-15T>C)
c.243-15T>C (n.243-15T>C)
 dbSNP gnomAD v3 gnomAD v4
1g.99862242T>GCA2574444259AGLc.294-15T>G (n.294-15T>G)
n.505-15T>G
c.246-15T>G (n.246-15T>G)
c.243-15T>G (n.243-15T>G)
1g.99862242T=CA1183924229AGLc.294-15T= (n.294-15T=)
n.505-15T=
c.246-15T= (n.246-15T=)
c.243-15T= (n.243-15T=)
1g.99862243_99862244delCA2646735193AGLc.294-14_294-13del (n.294-14_294-13del)
n.505-14_505-13del
c.246-14_246-13del (n.246-14_246-13del)
c.243-14_243-13del (n.243-14_243-13del)
 gnomAD v4
1g.99862243G=CA1183924231AGLc.294-14G= (n.294-14G=)
n.505-14G=
c.246-14G= (n.246-14G=)
c.243-14G= (n.243-14G=)
1g.99862243G>TCA966120AGLc.294-14G>T (n.294-14G>T)
n.505-14G>T
c.246-14G>T (n.246-14G>T)
c.243-14G>T (n.243-14G>T)
 dbSNP ExAC gnomAD v2
1g.99862244_99862249delinsTTTTTTCA1148294101AGLc.294-13_294-8delinsTTTTTT (n.294-13_294-8delinsTTTTTT)
n.505-13_505-8delinsTTTTTT
c.246-13_246-8delinsTTTTTT (n.246-13_246-8delinsTTTTTT)
c.243-13_243-8delinsTTTTTT (n.243-13_243-8delinsTTTTTT)
1g.99862249dupCA966121AGLc.294-8dup (n.294-8dup)
n.505-8dup
c.246-8dup (n.246-8dup)
c.243-8dup (n.243-8dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862245T>ACA2573132740AGLc.294-12T>A (n.294-12T>A)
n.505-12T>A
c.246-12T>A (n.246-12T>A)
c.243-12T>A (n.243-12T>A)
 ClinVar dbSNP
1g.99862245T>CCA966122AGLc.294-12T>C (n.294-12T>C)
n.505-12T>C
c.246-12T>C (n.246-12T>C)
c.243-12T>C (n.243-12T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99862245T=CA1183924234AGLc.294-12T= (n.294-12T=)
n.505-12T=
c.246-12T= (n.246-12T=)
c.243-12T= (n.243-12T=)
1g.99862248T>CCA2574444260AGLc.294-9T>C (n.294-9T>C)
n.505-9T>C
c.246-9T>C (n.246-9T>C)
c.243-9T>C (n.243-9T>C)
1g.99862250C=CA1183924237AGLc.294-7C= (n.294-7C=)
n.505-7C=
c.246-7C= (n.246-7C=)
c.243-7C= (n.243-7C=)
1g.99862250C>TCA966123AGLc.294-7C>T (n.294-7C>T)
n.505-7C>T
c.246-7C>T (n.246-7C>T)
c.243-7C>T (n.243-7C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99862251C=CA1143587526AGLc.294-6C= (n.294-6C=)
n.505-6C=
c.246-6C= (n.246-6C=)
c.243-6C= (n.243-6C=)
1g.99862251C>GCA2646735205AGLc.294-6C>G (n.294-6C>G)
n.505-6C>G
c.246-6C>G (n.246-6C>G)
c.243-6C>G (n.243-6C>G)
 gnomAD v4
1g.99862251C>TCA966124AGLc.294-6C>T (n.294-6C>T)
n.505-6C>T
c.246-6C>T (n.246-6C>T)
c.243-6C>T (n.243-6C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99862252C=CA1183924245AGLc.294-5C= (n.294-5C=)
n.505-5C=
c.246-5C= (n.246-5C=)
c.243-5C= (n.243-5C=)
1g.99862252C>TCA524878366AGLc.294-5C>T (n.294-5C>T)
n.505-5C>T
c.246-5C>T (n.246-5C>T)
c.243-5C>T (n.243-5C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.99862252_99862253delinsCTCA1183924247AGLc.294-5_294-4delinsCT (n.294-5_294-4delinsCT)
n.505-5_505-4delinsCT
c.246-5_246-4delinsCT (n.246-5_246-4delinsCT)
c.243-5_243-4delinsCT (n.243-5_243-4delinsCT)
1g.99862253T>GCA2646735210AGLc.294-4T>G (n.294-4T>G)
n.505-4T>G
c.246-4T>G (n.246-4T>G)
c.243-4T>G (n.243-4T>G)
 gnomAD v4
1g.99862254delCA966125AGLc.294-3del (n.294-3del)
n.505-3del
c.246-3del (n.246-3del)
c.243-3del (n.243-3del)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99862254T>CCA2574444261AGLc.294-3T>C (n.294-3T>C)
n.505-3T>C
c.246-3T>C (n.246-3T>C)
c.243-3T>C (n.243-3T>C)
1g.99862255A=CA1183924253AGLc.294-2A= (n.294-2A=)
n.505-2A=
c.246-2A= (n.246-2A=)
c.243-2A= (n.243-2A=)
1g.99862255A>CCA341330386AGLc.294-2A>C (n.294-2A>C)
n.505-2A>C
c.246-2A>C (n.246-2A>C)
c.243-2A>C (n.243-2A>C)
1g.99862255A>GCA341330384AGLc.294-2A>G (n.294-2A>G)
n.505-2A>G
c.246-2A>G (n.246-2A>G)
c.243-2A>G (n.243-2A>G)
1g.99862255A>TCA16040823AGLc.294-2A>T (n.294-2A>T)
n.505-2A>T
c.246-2A>T (n.246-2A>T)
c.243-2A>T (n.243-2A>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99862256G>ACA341330391AGLc.294-1G>A (n.294-1G>A)
n.505-1G>A
c.246-1G>A (n.246-1G>A)
c.243-1G>A (n.243-1G>A)
1g.99862256G>CCA966127AGLc.294-1G>C (n.294-1G>C)
n.505-1G>C
c.246-1G>C (n.246-1G>C)
c.243-1G>C (n.243-1G>C)
 ClinVar dbSNP ExAC gnomAD v2
1g.99862256G=CA1183924260AGLc.294-1G= (n.294-1G=)
n.505-1G=
c.246-1G= (n.246-1G=)
c.243-1G= (n.243-1G=)
1g.99862256G>TCA966126AGLc.294-1G>T (n.294-1G>T)
n.505-1G>T
c.246-1G>T (n.246-1G>T)
c.243-1G>T (n.243-1G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862257A=CA1148394440AGLc.294A= (p.Gly98=)
n.505A=
c.246A= (p.Gly82=)
c.243A= (p.Gly81=)
1g.99862257A>CCA419095194AGLc.294A>C (p.Gly98=)
n.505A>C
c.246A>C (p.Gly82=)
c.243A>C (p.Gly81=)
1g.99862257A>GCA966128AGLc.294A>G (p.Gly98=)
n.505A>G
c.246A>G (p.Gly82=)
c.243A>G (p.Gly81=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862257A>TCA419095196AGLc.294A>T (p.Gly98=)
n.505A>T
c.246A>T (p.Gly82=)
c.243A>T (p.Gly81=)
1g.99862259delCA2695198081AGLc.296del (p.Asn99MetfsTer9)
n.507del
c.248del (p.Asn83MetfsTer9)
c.245del (p.Asn82MetfsTer9)
 ClinVar
1g.99862258A>CCA341330398AGLc.295A>C (p.Asn99His)
n.506A>C
c.247A>C (p.Asn83His)
c.244A>C (p.Asn82His)
1g.99862258A>GCA341330400AGLc.295A>G (p.Asn99Asp)
n.506A>G
c.247A>G (p.Asn83Asp)
c.244A>G (p.Asn82Asp)
1g.99862258A>TCA341330403AGLc.295A>T (p.Asn99Tyr)
n.506A>T
c.247A>T (p.Asn83Tyr)
c.244A>T (p.Asn82Tyr)
1g.99862259A=CA1183924266AGLc.296A= (p.Asn99=)
n.507A=
c.248A= (p.Asn83=)
c.245A= (p.Asn82=)
1g.99862259A>CCA341330407AGLc.296A>C (p.Asn99Thr)
n.507A>C
c.248A>C (p.Asn83Thr)
c.245A>C (p.Asn82Thr)
1g.99862259A>GCA966129AGLc.296A>G (p.Asn99Ser)
n.507A>G
c.248A>G (p.Asn83Ser)
c.245A>G (p.Asn82Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99862259A>TCA341330417AGLc.296A>T (p.Asn99Ile)
n.507A>T
c.248A>T (p.Asn83Ile)
c.245A>T (p.Asn82Ile)
1g.99862260T>ACA341330425AGLc.297T>A (p.Asn99Lys)
n.508T>A
c.249T>A (p.Asn83Lys)
c.246T>A (p.Asn82Lys)
1g.99862260T>CCA419095205AGLc.297T>C (p.Asn99=)
n.508T>C
c.249T>C (p.Asn83=)
c.246T>C (p.Asn82=)
 ClinVar dbSNP
1g.99862260T>GCA341330427AGLc.297T>G (p.Asn99Lys)
n.508T>G
c.249T>G (p.Asn83Lys)
c.246T>G (p.Asn82Lys)
 gnomAD v4
1g.99862261G>ACA966130AGLc.298G>A (p.Glu100Lys)
n.509G>A
c.250G>A (p.Glu84Lys)
c.247G>A (p.Glu83Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99862261G>CCA341330439AGLc.298G>C (p.Glu100Gln)
n.509G>C
c.250G>C (p.Glu84Gln)
c.247G>C (p.Glu83Gln)
1g.99862261G=CA1183924270AGLc.298G= (p.Glu100=)
n.509G=
c.250G= (p.Glu84=)
c.247G= (p.Glu83=)
1g.99862261G>TCA341330434AGLc.298G>T (p.Glu100Ter)
n.509G>T
c.250G>T (p.Glu84Ter)
c.247G>T (p.Glu83Ter)
1g.99862262A=CA1183924273AGLc.299A= (p.Glu100=)
n.510A=
c.251A= (p.Glu84=)
c.248A= (p.Glu83=)
1g.99862262A>CCA341330443AGLc.299A>C (p.Glu100Ala)
n.510A>C
c.251A>C (p.Glu84Ala)
c.248A>C (p.Glu83Ala)
1g.99862262A>GCA341330446AGLc.299A>G (p.Glu100Gly)
n.510A>G
c.251A>G (p.Glu84Gly)
c.248A>G (p.Glu83Gly)
 dbSNP gnomAD v4
1g.99862262A>TCA341330449AGLc.299A>T (p.Glu100Val)
n.510A>T
c.251A>T (p.Glu84Val)
c.248A>T (p.Glu83Val)
1g.99862263G>ACA419095212AGLc.300G>A (p.Glu100=)
n.511G>A
c.252G>A (p.Glu84=)
c.249G>A (p.Glu83=)
 dbSNP
1g.99862263G>CCA341330452AGLc.300G>C (p.Glu100Asp)
n.511G>C
c.252G>C (p.Glu84Asp)
c.249G>C (p.Glu83Asp)
1g.99862263G>TCA341330461AGLc.300G>T (p.Glu100Asp)
n.511G>T
c.252G>T (p.Glu84Asp)
c.249G>T (p.Glu83Asp)
1g.99862264A>CCA341330465AGLc.301A>C (p.Lys101Gln)
n.512A>C
c.253A>C (p.Lys85Gln)
c.250A>C (p.Lys84Gln)
1g.99862264A>GCA341330468AGLc.301A>G (p.Lys101Glu)
n.512A>G
c.253A>G (p.Lys85Glu)
c.250A>G (p.Lys84Glu)
1g.99862264A>TCA341330475AGLc.301A>T (p.Lys101Ter)
n.512A>T
c.253A>T (p.Lys85Ter)
c.250A>T (p.Lys84Ter)
1g.99862265A>CCA341330480AGLc.302A>C (p.Lys101Thr)
n.513A>C
c.254A>C (p.Lys85Thr)
c.251A>C (p.Lys84Thr)
1g.99862265A>GCA341330482AGLc.302A>G (p.Lys101Arg)
n.513A>G
c.254A>G (p.Lys85Arg)
c.251A>G (p.Lys84Arg)
1g.99862265A>TCA341330484AGLc.302A>T (p.Lys101Ile)
n.513A>T
c.254A>T (p.Lys85Ile)
c.251A>T (p.Lys84Ile)
1g.99862266A>CCA341330489AGLc.303A>C (p.Lys101Asn)
n.514A>C
c.255A>C (p.Lys85Asn)
c.252A>C (p.Lys84Asn)
1g.99862266A>GCA419095221AGLc.303A>G (p.Lys101=)
n.514A>G
c.255A>G (p.Lys85=)
c.252A>G (p.Lys84=)
1g.99862266A>TCA341330492AGLc.303A>T (p.Lys101Asn)
n.514A>T
c.255A>T (p.Lys85Asn)
c.252A>T (p.Lys84Asn)
1g.99862267A>CCA341330503AGLc.304A>C (p.Ser102Arg)
n.515A>C
c.256A>C (p.Ser86Arg)
c.253A>C (p.Ser85Arg)
1g.99862267A>GCA341330506AGLc.304A>G (p.Ser102Gly)
n.515A>G
c.256A>G (p.Ser86Gly)
c.253A>G (p.Ser85Gly)
1g.99862267A>TCA341330501AGLc.304A>T (p.Ser102Cys)
n.515A>T
c.256A>T (p.Ser86Cys)
c.253A>T (p.Ser85Cys)
1g.99862267_99862270delinsAGTGCA1183924276AGLc.304_307delinsAGTG (p.Ser102=)
n.515_518delinsAGTG
c.256_259delinsAGTG (p.Ser86=)
c.253_256delinsAGTG (p.Ser85=)
1g.99862268G>ACA341330512AGLc.305G>A (p.Ser102Asn)
n.516G>A
c.257G>A (p.Ser86Asn)
c.254G>A (p.Ser85Asn)
 dbSNP
1g.99862268G>CCA341330520AGLc.305G>C (p.Ser102Thr)
n.516G>C
c.257G>C (p.Ser86Thr)
c.254G>C (p.Ser85Thr)
1g.99862268G=CA1183924284AGLc.305G= (p.Ser102=)
n.516G=
c.257G= (p.Ser86=)
c.254G= (p.Ser85=)
1g.99862268G>TCA341330526AGLc.305G>T (p.Ser102Ile)
n.516G>T
c.257G>T (p.Ser86Ile)
c.254G>T (p.Ser85Ile)
 ClinVar dbSNP
1g.99862272_99862274delCA966131AGLc.309_311del (p.Gly104del)
n.520_522del
c.261_263del (p.Gly88del)
c.258_260del (p.Gly87del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862269T>ACA341330546AGLc.306T>A (p.Ser102Arg)
n.517T>A
c.258T>A (p.Ser86Arg)
c.255T>A (p.Ser85Arg)
 gnomAD v4
1g.99862269T>CCA419095232AGLc.306T>C (p.Ser102=)
n.517T>C
c.258T>C (p.Ser86=)
c.255T>C (p.Ser85=)
1g.99862269T>GCA341330530AGLc.306T>G (p.Ser102Arg)
n.517T>G
c.258T>G (p.Ser86Arg)
c.255T>G (p.Ser85Arg)
1g.99862270G>ACA341330548AGLc.307G>A (p.Gly103Ser)
n.518G>A
c.259G>A (p.Gly87Ser)
c.256G>A (p.Gly86Ser)
 gnomAD v4
1g.99862270G>CCA341330547AGLc.307G>C (p.Gly103Arg)
n.518G>C
c.259G>C (p.Gly87Arg)
c.256G>C (p.Gly86Arg)
1g.99862270G>TCA341330549AGLc.307G>T (p.Gly103Cys)
n.518G>T
c.259G>T (p.Gly87Cys)
c.256G>T (p.Gly86Cys)
1g.99862271G>ACA341330554AGLc.308G>A (p.Gly103Asp)
n.519G>A
c.260G>A (p.Gly87Asp)
c.257G>A (p.Gly86Asp)
1g.99862271G>CCA341330560AGLc.308G>C (p.Gly103Ala)
n.519G>C
c.260G>C (p.Gly87Ala)
c.257G>C (p.Gly86Ala)
 gnomAD v4
1g.99862271G>TCA341330557AGLc.308G>T (p.Gly103Val)
n.519G>T
c.260G>T (p.Gly87Val)
c.257G>T (p.Gly86Val)
1g.99862272T>ACA419095255AGLc.309T>A (p.Gly103=)
n.520T>A
c.261T>A (p.Gly87=)
c.258T>A (p.Gly86=)
1g.99862272T>CCA419095254AGLc.309T>C (p.Gly103=)
n.520T>C
c.261T>C (p.Gly87=)
c.258T>C (p.Gly86=)
1g.99862272T>GCA419095248AGLc.309T>G (p.Gly103=)
n.520T>G
c.261T>G (p.Gly87=)
c.258T>G (p.Gly86=)
1g.99862273G>ACA966132AGLc.310G>A (p.Gly104Arg)
n.521G>A
c.262G>A (p.Gly88Arg)
c.259G>A (p.Gly87Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862273G>CCA341330583AGLc.310G>C (p.Gly104Arg)
n.521G>C
c.262G>C (p.Gly88Arg)
c.259G>C (p.Gly87Arg)
1g.99862273G=CA1148248382AGLc.310G= (p.Gly104=)
n.521G=
c.262G= (p.Gly88=)
c.259G= (p.Gly87=)
1g.99862273G>TCA341330577AGLc.310G>T (p.Gly104Ter)
n.521G>T
c.262G>T (p.Gly88Ter)
c.259G>T (p.Gly87Ter)
1g.99862274G>ACA341330590AGLc.311G>A (p.Gly104Glu)
n.522G>A
c.263G>A (p.Gly88Glu)
c.260G>A (p.Gly87Glu)
1g.99862274G>CCA341330595AGLc.311G>C (p.Gly104Ala)
n.522G>C
c.263G>C (p.Gly88Ala)
c.260G>C (p.Gly87Ala)
1g.99862274G=CA1143831553AGLc.311G= (p.Gly104=)
n.522G=
c.263G= (p.Gly88=)
c.260G= (p.Gly87=)
1g.99862274G>TCA966133AGLc.311G>T (p.Gly104Val)
n.522G>T
c.263G>T (p.Gly88Val)
c.260G>T (p.Gly87Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862275A>CCA419095257AGLc.312A>C (p.Gly104=)
n.523A>C
c.264A>C (p.Gly88=)
c.261A>C (p.Gly87=)
1g.99862275A>GCA419095269AGLc.312A>G (p.Gly104=)
n.523A>G
c.264A>G (p.Gly88=)
c.261A>G (p.Gly87=)
1g.99862275A>TCA419095262AGLc.312A>T (p.Gly104=)
n.523A>T
c.264A>T (p.Gly88=)
c.261A>T (p.Gly87=)
1g.99862276G>ACA341330598AGLc.313G>A (p.Gly105Ser)
n.524G>A
c.265G>A (p.Gly89Ser)
c.262G>A (p.Gly88Ser)
1g.99862276G>CCA341330602AGLc.313G>C (p.Gly105Arg)
n.524G>C
c.265G>C (p.Gly89Arg)
c.262G>C (p.Gly88Arg)
1g.99862276G>TCA341330603AGLc.313G>T (p.Gly105Cys)
n.524G>T
c.265G>T (p.Gly89Cys)
c.262G>T (p.Gly88Cys)
1g.99862277G>ACA341330606AGLc.314G>A (p.Gly105Asp)
n.525G>A
c.266G>A (p.Gly89Asp)
c.263G>A (p.Gly88Asp)
1g.99862277G>CCA341330608AGLc.314G>C (p.Gly105Ala)
n.525G>C
c.266G>C (p.Gly89Ala)
c.263G>C (p.Gly88Ala)
1g.99862277G>TCA341330618AGLc.314G>T (p.Gly105Val)
n.525G>T
c.266G>T (p.Gly89Val)
c.263G>T (p.Gly88Val)
1g.99862278T>ACA419095279AGLc.315T>A (p.Gly105=)
n.526T>A
c.267T>A (p.Gly89=)
c.264T>A (p.Gly88=)
1g.99862278T>CCA419095280AGLc.315T>C (p.Gly105=)
n.526T>C
c.267T>C (p.Gly89=)
c.264T>C (p.Gly88=)
1g.99862278T>GCA419095282AGLc.315T>G (p.Gly105=)
n.526T>G
c.267T>G (p.Gly89=)
c.264T>G (p.Gly88=)
1g.99862279T>ACA341330623AGLc.316T>A (p.Tyr106Asn)
n.527T>A
c.268T>A (p.Tyr90Asn)
c.265T>A (p.Tyr89Asn)
 COSMIC COSMIC
1g.99862279T>CCA341330626AGLc.316T>C (p.Tyr106His)
n.527T>C
c.268T>C (p.Tyr90His)
c.265T>C (p.Tyr89His)
 dbSNP gnomAD v4
1g.99862279T>GCA341330629AGLc.316T>G (p.Tyr106Asp)
n.527T>G
c.268T>G (p.Tyr90Asp)
c.265T>G (p.Tyr89Asp)
1g.99862279T=CA1183924296AGLc.316T= (p.Tyr106=)
n.527T=
c.268T= (p.Tyr90=)
c.265T= (p.Tyr89=)
1g.99862280A=CA1143512416AGLc.317A= (p.Tyr106=)
n.528A=
c.269A= (p.Tyr90=)
c.266A= (p.Tyr89=)
1g.99862280A>CCA341330634AGLc.317A>C (p.Tyr106Ser)
n.528A>C
c.269A>C (p.Tyr90Ser)
c.266A>C (p.Tyr89Ser)
1g.99862280A>GCA341330635AGLc.317A>G (p.Tyr106Cys)
n.528A>G
c.269A>G (p.Tyr90Cys)
c.266A>G (p.Tyr89Cys)
1g.99862280A>TCA966134AGLc.317A>T (p.Tyr106Phe)
n.528A>T
c.269A>T (p.Tyr90Phe)
c.266A>T (p.Tyr89Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862281C>ACA341330641AGLc.318C>A (p.Tyr106Ter)
n.529C>A
c.270C>A (p.Tyr90Ter)
c.267C>A (p.Tyr89Ter)
1g.99862281C=CA1144156573AGLc.318C= (p.Tyr106=)
n.529C=
c.270C= (p.Tyr90=)
c.267C= (p.Tyr89=)
1g.99862281C>GCA341330643AGLc.318C>G (p.Tyr106Ter)
n.529C>G
c.270C>G (p.Tyr90Ter)
c.267C>G (p.Tyr89Ter)
1g.99862281C>TCA10610886AGLc.318C>T (p.Tyr106=)
n.529C>T
c.270C>T (p.Tyr90=)
c.267C>T (p.Tyr89=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.99862282A=CA1183924308AGLc.319A= (p.Ile107=)
n.530A=
c.271A= (p.Ile91=)
c.268A= (p.Ile90=)
1g.99862282A>CCA341330645AGLc.319A>C (p.Ile107Leu)
n.530A>C
c.271A>C (p.Ile91Leu)
c.268A>C (p.Ile90Leu)
1g.99862282A>GCA341330647AGLc.319A>G (p.Ile107Val)
n.530A>G
c.271A>G (p.Ile91Val)
c.268A>G (p.Ile90Val)
 dbSNP gnomAD v4
1g.99862282A>TCA341330653AGLc.319A>T (p.Ile107Leu)
n.530A>T
c.271A>T (p.Ile91Leu)
c.268A>T (p.Ile90Leu)
1g.99862283T>ACA341330657AGLc.320T>A (p.Ile107Lys)
n.531T>A
c.272T>A (p.Ile91Lys)
c.269T>A (p.Ile90Lys)
1g.99862283T>CCA341330660AGLc.320T>C (p.Ile107Thr)
n.531T>C
c.272T>C (p.Ile91Thr)
c.269T>C (p.Ile90Thr)
1g.99862283T>GCA341330661AGLc.320T>G (p.Ile107Arg)
n.531T>G
c.272T>G (p.Ile91Arg)
c.269T>G (p.Ile90Arg)
1g.99862284A>CCA419095316AGLc.321A>C (p.Ile107=)
n.532A>C
c.273A>C (p.Ile91=)
c.270A>C (p.Ile90=)
1g.99862284A>GCA341330666AGLc.321A>G (p.Ile107Met)
n.532A>G
c.273A>G (p.Ile91Met)
c.270A>G (p.Ile90Met)
1g.99862284A>TCA419095320AGLc.321A>T (p.Ile107=)
n.532A>T
c.273A>T (p.Ile91=)
c.270A>T (p.Ile90=)
1g.99862285G>ACA341330683AGLc.322G>A (p.Val108Ile)
n.533G>A
c.274G>A (p.Val92Ile)
c.271G>A (p.Val91Ile)
1g.99862285G>CCA341330689AGLc.322G>C (p.Val108Leu)
n.533G>C
c.274G>C (p.Val92Leu)
c.271G>C (p.Val91Leu)
1g.99862285G>TCA341330677AGLc.322G>T (p.Val108Phe)
n.533G>T
c.274G>T (p.Val92Phe)
c.271G>T (p.Val91Phe)
1g.99862286T>ACA341330693AGLc.323T>A (p.Val108Asp)
n.534T>A
c.275T>A (p.Val92Asp)
c.272T>A (p.Val91Asp)
1g.99862286T>CCA341330701AGLc.323T>C (p.Val108Ala)
n.534T>C
c.275T>C (p.Val92Ala)
c.272T>C (p.Val91Ala)
 ClinVar gnomAD v4
1g.99862286T>GCA341330706AGLc.323T>G (p.Val108Gly)
n.534T>G
c.275T>G (p.Val92Gly)
c.272T>G (p.Val91Gly)
1g.99862287T>ACA419095330AGLc.324T>A (p.Val108=)
n.535T>A
c.276T>A (p.Val92=)
c.273T>A (p.Val91=)
1g.99862287T>CCA419095332AGLc.324T>C (p.Val108=)
n.535T>C
c.276T>C (p.Val92=)
c.273T>C (p.Val91=)
 ClinVar dbSNP gnomAD v4
1g.99862287T>GCA419095335AGLc.324T>G (p.Val108=)
n.535T>G
c.276T>G (p.Val92=)
c.273T>G (p.Val91=)
1g.99862288G>ACA341330715AGLc.325G>A (p.Val109Met)
n.536G>A
c.277G>A (p.Val93Met)
c.274G>A (p.Val92Met)
1g.99862288G>CCA341330722AGLc.325G>C (p.Val109Leu)
n.536G>C
c.277G>C (p.Val93Leu)
c.274G>C (p.Val92Leu)
1g.99862288G=CA1143638898AGLc.325G= (p.Val109=)
n.536G=
c.277G= (p.Val93=)
c.274G= (p.Val92=)
1g.99862288G>TCA966135AGLc.325G>T (p.Val109Leu)
n.536G>T
c.277G>T (p.Val93Leu)
c.274G>T (p.Val92Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862289T>ACA341330732AGLc.326T>A (p.Val109Glu)
n.537T>A
c.278T>A (p.Val93Glu)
c.275T>A (p.Val92Glu)
1g.99862289T>CCA341330738AGLc.326T>C (p.Val109Ala)
n.537T>C
c.278T>C (p.Val93Ala)
c.275T>C (p.Val92Ala)
 ClinVar dbSNP
1g.99862289T>GCA341330754AGLc.326T>G (p.Val109Gly)
n.537T>G
c.278T>G (p.Val93Gly)
c.275T>G (p.Val92Gly)
1g.99862289T=CA1183924316AGLc.326T= (p.Val109=)
n.537T=
c.278T= (p.Val93=)
c.275T= (p.Val92=)
1g.99862290G>ACA419095353AGLc.327G>A (p.Val109=)
n.538G>A
c.279G>A (p.Val93=)
c.276G>A (p.Val92=)
1g.99862290G>CCA419095355AGLc.327G>C (p.Val109=)
n.538G>C
c.279G>C (p.Val93=)
c.276G>C (p.Val92=)
1g.99862290G>TCA419095357AGLc.327G>T (p.Val109=)
n.538G>T
c.279G>T (p.Val93=)
c.276G>T (p.Val92=)
1g.99862291delCA2499214912AGLc.328del (p.Asp110ThrfsTer24)
n.539del
c.280del (p.Asp94ThrfsTer24)
c.277del (p.Asp93ThrfsTer24)
 ClinVar dbSNP
1g.99862291G>ACA341330767AGLc.328G>A (p.Asp110Asn)
n.539G>A
c.280G>A (p.Asp94Asn)
c.277G>A (p.Asp93Asn)
1g.99862291G>CCA341330768AGLc.328G>C (p.Asp110His)
n.539G>C
c.280G>C (p.Asp94His)
c.277G>C (p.Asp93His)
1g.99862291G>TCA341330769AGLc.328G>T (p.Asp110Tyr)
n.539G>T
c.280G>T (p.Asp94Tyr)
c.277G>T (p.Asp93Tyr)
1g.99862292A=CA1183924318AGLc.329A= (p.Asp110=)
n.540A=
c.281A= (p.Asp94=)
c.278A= (p.Asp93=)
1g.99862292A>CCA341330808AGLc.329A>C (p.Asp110Ala)
n.540A>C
c.281A>C (p.Asp94Ala)
c.278A>C (p.Asp93Ala)
1g.99862292A>GCA966136AGLc.329A>G (p.Asp110Gly)
n.540A>G
c.281A>G (p.Asp94Gly)
c.278A>G (p.Asp93Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99862292A>TCA341330800AGLc.329A>T (p.Asp110Val)
n.540A>T
c.281A>T (p.Asp94Val)
c.278A>T (p.Asp93Val)
 dbSNP gnomAD v2 gnomAD v4
1g.99862293C>ACA341330829AGLc.330C>A (p.Asp110Glu)
n.541C>A
c.282C>A (p.Asp94Glu)
c.279C>A (p.Asp93Glu)
1g.99862293C>GCA341330836AGLc.330C>G (p.Asp110Glu)
n.541C>G
c.282C>G (p.Asp94Glu)
c.279C>G (p.Asp93Glu)
1g.99862293C>TCA419095367AGLc.330C>T (p.Asp110=)
n.541C>T
c.282C>T (p.Asp94=)
c.279C>T (p.Asp93=)
 ClinVar gnomAD v4
1g.99862294C>ACA341330837AGLc.331C>A (p.Pro111Thr)
n.542C>A
c.283C>A (p.Pro95Thr)
c.280C>A (p.Pro94Thr)
1g.99862294C>GCA341330838AGLc.331C>G (p.Pro111Ala)
n.542C>G
c.283C>G (p.Pro95Ala)
c.280C>G (p.Pro94Ala)
1g.99862294C>TCA341330843AGLc.331C>T (p.Pro111Ser)
n.542C>T
c.283C>T (p.Pro95Ser)
c.280C>T (p.Pro94Ser)
1g.99862295C>ACA341330876AGLc.332C>A (p.Pro111His)
n.543C>A
c.284C>A (p.Pro95His)
c.281C>A (p.Pro94His)
1g.99862295C>GCA341330856AGLc.332C>G (p.Pro111Arg)
n.543C>G
c.284C>G (p.Pro95Arg)
c.281C>G (p.Pro94Arg)
 gnomAD v4
1g.99862295C>TCA341330862AGLc.332C>T (p.Pro111Leu)
n.543C>T
c.284C>T (p.Pro95Leu)
c.281C>T (p.Pro94Leu)
1g.99862296C>ACA419095383AGLc.333C>A (p.Pro111=)
n.544C>A
c.285C>A (p.Pro95=)
c.282C>A (p.Pro94=)
1g.99862296C=CA1183924322AGLc.333C= (p.Pro111=)
n.544C=
c.285C= (p.Pro95=)
c.282C= (p.Pro94=)
1g.99862296C>GCA419095381AGLc.333C>G (p.Pro111=)
n.544C>G
c.285C>G (p.Pro95=)
c.282C>G (p.Pro94=)
1g.99862296C>TCA419095379AGLc.333C>T (p.Pro111=)
n.544C>T
c.285C>T (p.Pro95=)
c.282C>T (p.Pro94=)
 ClinVar dbSNP
1g.99862297A=CA1142152751AGLc.334A= (p.Ile112=)
n.545A=
c.286A= (p.Ile96=)
c.283A= (p.Ile95=)
1g.99862297A>CCA341330902AGLc.334A>C (p.Ile112Leu)
n.545A>C
c.286A>C (p.Ile96Leu)
c.283A>C (p.Ile95Leu)
 gnomAD v4
1g.99862297A>GCA966137AGLc.334A>G (p.Ile112Val)
n.545A>G
c.286A>G (p.Ile96Val)
c.283A>G (p.Ile95Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862297A>TCA341330923AGLc.334A>T (p.Ile112Phe)
n.545A>T
c.286A>T (p.Ile96Phe)
c.283A>T (p.Ile95Phe)
1g.99862298T>ACA341330941AGLc.335T>A (p.Ile112Asn)
n.546T>A
c.287T>A (p.Ile96Asn)
c.284T>A (p.Ile95Asn)
1g.99862298T>CCA341330953AGLc.335T>C (p.Ile112Thr)
n.546T>C
c.287T>C (p.Ile96Thr)
c.284T>C (p.Ile95Thr)
1g.99862298T>GCA341330959AGLc.335T>G (p.Ile112Ser)
n.546T>G
c.287T>G (p.Ile96Ser)
c.284T>G (p.Ile95Ser)
1g.99862300_99862301delCA2580063354AGLc.337_338del (p.Leu113ThrfsTer5)
n.548_549del
c.289_290del (p.Leu97ThrfsTer5)
c.286_287del (p.Leu96ThrfsTer5)
 ClinVar
1g.99862299T>ACA419095399AGLc.336T>A (p.Ile112=)
n.547T>A
c.288T>A (p.Ile96=)
c.285T>A (p.Ile95=)
1g.99862299T>CCA419095401AGLc.336T>C (p.Ile112=)
n.547T>C
c.288T>C (p.Ile96=)
c.285T>C (p.Ile95=)
1g.99862299T>GCA341330964AGLc.336T>G (p.Ile112Met)
n.547T>G
c.288T>G (p.Ile96Met)
c.285T>G (p.Ile95Met)
1g.99862300T>ACA341330989AGLc.337T>A (p.Leu113Ile)
n.548T>A
c.289T>A (p.Leu97Ile)
c.286T>A (p.Leu96Ile)
1g.99862300T>CCA419095412AGLc.337T>C (p.Leu113=)
n.548T>C
c.289T>C (p.Leu97=)
c.286T>C (p.Leu96=)
1g.99862300T>GCA341330985AGLc.337T>G (p.Leu113Val)
n.548T>G
c.289T>G (p.Leu97Val)
c.286T>G (p.Leu96Val)
 COSMIC
1g.99862301T>ACA341331016AGLc.338T>A (p.Leu113Ter)
n.549T>A
c.290T>A (p.Leu97Ter)
c.287T>A (p.Leu96Ter)
 ClinVar
1g.99862301T>CCA341330995AGLc.338T>C (p.Leu113Ser)
n.549T>C
c.290T>C (p.Leu97Ser)
c.287T>C (p.Leu96Ser)
1g.99862301T>GCA341330998AGLc.338T>G (p.Leu113Ter)
n.549T>G
c.290T>G (p.Leu97Ter)
c.287T>G (p.Leu96Ter)
1g.99862302A>CCA341331022AGLc.339A>C (p.Leu113Phe)
n.550A>C
c.291A>C (p.Leu97Phe)
c.288A>C (p.Leu96Phe)
 gnomAD v4
1g.99862302A>GCA419095429AGLc.339A>G (p.Leu113=)
n.550A>G
c.291A>G (p.Leu97=)
c.288A>G (p.Leu96=)
1g.99862302A>TCA341331031AGLc.339A>T (p.Leu113Phe)
n.550A>T
c.291A>T (p.Leu97Phe)
c.288A>T (p.Leu96Phe)
1g.99862303C>ACA341331044AGLc.340C>A (p.Arg114Ser)
n.551C>A
c.292C>A (p.Arg98Ser)
c.289C>A (p.Arg97Ser)
1g.99862303C=CA1183924336AGLc.340C= (p.Arg114=)
n.551C=
c.292C= (p.Arg98=)
c.289C= (p.Arg97=)
1g.99862303C>GCA341331048AGLc.340C>G (p.Arg114Gly)
n.551C>G
c.292C>G (p.Arg98Gly)
c.289C>G (p.Arg97Gly)
1g.99862303C>TCA966138AGLc.340C>T (p.Arg114Cys)
n.551C>T
c.292C>T (p.Arg98Cys)
c.289C>T (p.Arg97Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862304G>ACA966139AGLc.341G>A (p.Arg114His)
n.552G>A
c.293G>A (p.Arg98His)
c.290G>A (p.Arg97His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862304G>CCA966140AGLc.341G>C (p.Arg114Pro)
n.552G>C
c.293G>C (p.Arg98Pro)
c.290G>C (p.Arg97Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99862304G=CA1142346406AGLc.341G= (p.Arg114=)
n.552G=
c.293G= (p.Arg98=)
c.290G= (p.Arg97=)
1g.99862304G>TCA341331067AGLc.341G>T (p.Arg114Leu)
n.552G>T
c.293G>T (p.Arg98Leu)
c.290G>T (p.Arg97Leu)
1g.99862305T>ACA419095442AGLc.342T>A (p.Arg114=)
n.553T>A
c.294T>A (p.Arg98=)
c.291T>A (p.Arg97=)
1g.99862305T>CCA419095445AGLc.342T>C (p.Arg114=)
n.553T>C
c.294T>C (p.Arg98=)
c.291T>C (p.Arg97=)
1g.99862305T>GCA419095448AGLc.342T>G (p.Arg114=)
n.553T>G
c.294T>G (p.Arg98=)
c.291T>G (p.Arg97=)
1g.99862306G>ACA341331077AGLc.343G>A (p.Val115Ile)
n.554G>A
c.295G>A (p.Val99Ile)
c.292G>A (p.Val98Ile)
1g.99862306G>CCA341331079AGLc.343G>C (p.Val115Leu)
n.554G>C
c.295G>C (p.Val99Leu)
c.292G>C (p.Val98Leu)
1g.99862306G>TCA341331096AGLc.343G>T (p.Val115Phe)
n.554G>T
c.295G>T (p.Val99Phe)
c.292G>T (p.Val98Phe)
 gnomAD v4
1g.99862306_99862332delinsGTTGGTGCTGATAATCATGTGCTACCCCA1183924345AGLc.343_369delinsGTTGGTGCTGATAATCATGTGCTACCC (p.Val115=)
n.554_580delinsGTTGGTGCTGATAATCATGTGCTACCC
c.295_321delinsGTTGGTGCTGATAATCATGTGCTACCC (p.Val99=)
c.292_318delinsGTTGGTGCTGATAATCATGTGCTACCC (p.Val98=)
1g.99862307T>ACA341331123AGLc.344T>A (p.Val115Asp)
n.555T>A
c.296T>A (p.Val99Asp)
c.293T>A (p.Val98Asp)
 gnomAD v4
1g.99862307T>CCA966141AGLc.344T>C (p.Val115Ala)
n.555T>C
c.296T>C (p.Val99Ala)
c.293T>C (p.Val98Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862307T>GCA341331124AGLc.344T>G (p.Val115Gly)
n.555T>G
c.296T>G (p.Val99Gly)
c.293T>G (p.Val98Gly)
1g.99862307T=CA1147339744AGLc.344T= (p.Val115=)
n.555T=
c.296T= (p.Val99=)
c.293T= (p.Val98=)
1g.99862311_99862336delCA16040824AGLc.348_373del (p.Ala117LeufsTer10)
n.559_584del
c.300_325del (p.Ala101LeufsTer10)
c.297_322del (p.Ala100LeufsTer10)
 ClinVar dbSNP
1g.99862308T>ACA419095480AGLc.345T>A (p.Val115=)
n.556T>A
c.297T>A (p.Val99=)
c.294T>A (p.Val98=)
1g.99862308T>CCA419095474AGLc.345T>C (p.Val115=)
n.556T>C
c.297T>C (p.Val99=)
c.294T>C (p.Val98=)
1g.99862308T>GCA419095479AGLc.345T>G (p.Val115=)
n.556T>G
c.297T>G (p.Val99=)
c.294T>G (p.Val98=)
1g.99862309G>ACA341331129AGLc.346G>A (p.Gly116Ser)
n.557G>A
c.298G>A (p.Gly100Ser)
c.295G>A (p.Gly99Ser)
1g.99862309G>CCA341331136AGLc.346G>C (p.Gly116Arg)
n.557G>C
c.298G>C (p.Gly100Arg)
c.295G>C (p.Gly99Arg)
 dbSNP
1g.99862309G>TCA341331149AGLc.346G>T (p.Gly116Cys)
n.557G>T
c.298G>T (p.Gly100Cys)
c.295G>T (p.Gly99Cys)
1g.99862310G>ACA966142AGLc.347G>A (p.Gly116Asp)
n.558G>A
c.299G>A (p.Gly100Asp)
c.296G>A (p.Gly99Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862310G>CCA341331176AGLc.347G>C (p.Gly116Ala)
n.558G>C
c.299G>C (p.Gly100Ala)
c.296G>C (p.Gly99Ala)
 gnomAD v4
1g.99862310G=CA1183924356AGLc.347G= (p.Gly116=)
n.558G=
c.299G= (p.Gly100=)
c.296G= (p.Gly99=)
1g.99862310G>TCA341331192AGLc.347G>T (p.Gly116Val)
n.558G>T
c.299G>T (p.Gly100Val)
c.296G>T (p.Gly99Val)
 gnomAD v4
1g.99862311T>ACA419095492AGLc.348T>A (p.Gly116=)
n.559T>A
c.300T>A (p.Gly100=)
c.297T>A (p.Gly99=)
1g.99862311T>CCA419095500AGLc.348T>C (p.Gly116=)
n.559T>C
c.300T>C (p.Gly100=)
c.297T>C (p.Gly99=)
1g.99862311T>GCA419095502AGLc.348T>G (p.Gly116=)
n.559T>G
c.300T>G (p.Gly100=)
c.297T>G (p.Gly99=)
1g.99862312G>ACA341331197AGLc.349G>A (p.Ala117Thr)
n.560G>A
c.301G>A (p.Ala101Thr)
c.298G>A (p.Ala100Thr)
1g.99862312G>CCA341331198AGLc.349G>C (p.Ala117Pro)
n.560G>C
c.301G>C (p.Ala101Pro)
c.298G>C (p.Ala100Pro)
1g.99862312G>TCA341331199AGLc.349G>T (p.Ala117Ser)
n.560G>T
c.301G>T (p.Ala101Ser)
c.298G>T (p.Ala100Ser)
1g.99862313C>ACA341331205AGLc.350C>A (p.Ala117Asp)
n.561C>A
c.302C>A (p.Ala101Asp)
c.299C>A (p.Ala100Asp)
 COSMIC COSMIC
1g.99862313C>GCA341331211AGLc.350C>G (p.Ala117Gly)
n.561C>G
c.302C>G (p.Ala101Gly)
c.299C>G (p.Ala100Gly)
1g.99862313C>TCA341331203AGLc.350C>T (p.Ala117Val)
n.561C>T
c.302C>T (p.Ala101Val)
c.299C>T (p.Ala100Val)
1g.99862314T>ACA419095512AGLc.351T>A (p.Ala117=)
n.562T>A
c.303T>A (p.Ala101=)
c.300T>A (p.Ala100=)
1g.99862314T>CCA419095513AGLc.351T>C (p.Ala117=)
n.562T>C
c.303T>C (p.Ala101=)
c.300T>C (p.Ala100=)
 ClinVar
1g.99862314T>GCA419095516AGLc.351T>G (p.Ala117=)
n.562T>G
c.303T>G (p.Ala101=)
c.300T>G (p.Ala100=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99862314T=CA1183924360AGLc.351T= (p.Ala117=)
n.562T=
c.303T= (p.Ala101=)
c.300T= (p.Ala100=)
1g.99862315G>ACA341331212AGLc.352G>A (p.Asp118Asn)
n.563G>A
c.304G>A (p.Asp102Asn)
c.301G>A (p.Asp101Asn)
 gnomAD v4
1g.99862315G>CCA341331215AGLc.352G>C (p.Asp118His)
n.563G>C
c.304G>C (p.Asp102His)
c.301G>C (p.Asp101His)
 dbSNP gnomAD v2
1g.99862315G=CA1183924364AGLc.352G= (p.Asp118=)
n.563G=
c.304G= (p.Asp102=)
c.301G= (p.Asp101=)
1g.99862315G>TCA341331223AGLc.352G>T (p.Asp118Tyr)
n.563G>T
c.304G>T (p.Asp102Tyr)
c.301G>T (p.Asp101Tyr)
1g.99862316A>CCA341331230AGLc.353A>C (p.Asp118Ala)
n.564A>C
c.305A>C (p.Asp102Ala)
c.302A>C (p.Asp101Ala)
1g.99862316A>GCA341331242AGLc.353A>G (p.Asp118Gly)
n.564A>G
c.305A>G (p.Asp102Gly)
c.302A>G (p.Asp101Gly)
1g.99862316A>TCA341331247AGLc.353A>T (p.Asp118Val)
n.564A>T
c.305A>T (p.Asp102Val)
c.302A>T (p.Asp101Val)
1g.99862317T>ACA341331249AGLc.354T>A (p.Asp118Glu)
n.565T>A
c.306T>A (p.Asp102Glu)
c.303T>A (p.Asp101Glu)
1g.99862317T>CCA419095535AGLc.354T>C (p.Asp118=)
n.565T>C
c.306T>C (p.Asp102=)
c.303T>C (p.Asp101=)
1g.99862317T>GCA341331248AGLc.354T>G (p.Asp118Glu)
n.565T>G
c.306T>G (p.Asp102Glu)
c.303T>G (p.Asp101Glu)
1g.99862318A>CCA341331253AGLc.355A>C (p.Asn119His)
n.566A>C
c.307A>C (p.Asn103His)
c.304A>C (p.Asn102His)
1g.99862318A>GCA341331265AGLc.355A>G (p.Asn119Asp)
n.566A>G
c.307A>G (p.Asn103Asp)
c.304A>G (p.Asn102Asp)
1g.99862318A>TCA341331271AGLc.355A>T (p.Asn119Tyr)
n.566A>T
c.307A>T (p.Asn103Tyr)
c.304A>T (p.Asn102Tyr)
1g.99862319A=CA1183924370AGLc.356A= (p.Asn119=)
n.567A=
c.308A= (p.Asn103=)
c.305A= (p.Asn102=)
1g.99862319A>CCA341331277AGLc.356A>C (p.Asn119Thr)
n.567A>C
c.308A>C (p.Asn103Thr)
c.305A>C (p.Asn102Thr)
1g.99862319A>GCA341331282AGLc.356A>G (p.Asn119Ser)
n.567A>G
c.308A>G (p.Asn103Ser)
c.305A>G (p.Asn102Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.99862319A>TCA341331292AGLc.356A>T (p.Asn119Ile)
n.567A>T
c.308A>T (p.Asn103Ile)
c.305A>T (p.Asn102Ile)

Number of alleles fetched