Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.7560609A=CA2320979290PNPLA6c.3700-39A= (n.3700-39A=)
c.3586-39A= (n.3586-39A=)
c.3730-39A= (n.3730-39A=)
c.3505-39A= (n.3505-39A=)
n.19A=
c.186-405A=
19g.7560609A>CCA2320979291PNPLA6c.3700-39A>C (n.3700-39A>C)
c.3586-39A>C (n.3586-39A>C)
c.3730-39A>C (n.3730-39A>C)
c.3505-39A>C (n.3505-39A>C)
n.19A>C
c.186-405A>C
 dbSNP
19g.7560610G>CCA304882879PNPLA6c.3700-38G>C (n.3700-38G>C)
c.3586-38G>C (n.3586-38G>C)
c.3730-38G>C (n.3730-38G>C)
c.3505-38G>C (n.3505-38G>C)
n.20G>C
c.186-404G>C
 dbSNP gnomAD v2 gnomAD v4
19g.7560610G=CA2320979292PNPLA6c.3700-38G= (n.3700-38G=)
c.3586-38G= (n.3586-38G=)
c.3730-38G= (n.3730-38G=)
c.3505-38G= (n.3505-38G=)
n.20G=
c.186-404G=
19g.7560610G>TCA2587958160PNPLA6c.3700-38G>T (n.3700-38G>T)
c.3586-38G>T (n.3586-38G>T)
c.3730-38G>T (n.3730-38G>T)
c.3505-38G>T (n.3505-38G>T)
n.20G>T
c.186-404G>T
 gnomAD v4
19g.7560611G>ACA2587958161PNPLA6c.3700-37G>A (n.3700-37G>A)
c.3586-37G>A (n.3586-37G>A)
c.3730-37G>A (n.3730-37G>A)
c.3505-37G>A (n.3505-37G>A)
n.21G>A
c.186-403G>A
 gnomAD v4
19g.7560611G>TCA2587958162PNPLA6c.3700-37G>T (n.3700-37G>T)
c.3586-37G>T (n.3586-37G>T)
c.3730-37G>T (n.3730-37G>T)
c.3505-37G>T (n.3505-37G>T)
n.21G>T
c.186-403G>T
 gnomAD v4
19g.7560612G>ACA9140549PNPLA6c.3700-36G>A (n.3700-36G>A)
c.3586-36G>A (n.3586-36G>A)
c.3730-36G>A (n.3730-36G>A)
c.3505-36G>A (n.3505-36G>A)
n.22G>A
c.186-402G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7560612G=CA2320979293PNPLA6c.3700-36G= (n.3700-36G=)
c.3586-36G= (n.3586-36G=)
c.3730-36G= (n.3730-36G=)
c.3505-36G= (n.3505-36G=)
n.22G=
c.186-402G=
19g.7560612G>TCA9140550PNPLA6c.3700-36G>T (n.3700-36G>T)
c.3586-36G>T (n.3586-36G>T)
c.3730-36G>T (n.3730-36G>T)
c.3505-36G>T (n.3505-36G>T)
n.22G>T
c.186-402G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.7560615G>ACA9140551PNPLA6c.3700-33G>A (n.3700-33G>A)
c.3586-33G>A (n.3586-33G>A)
c.3730-33G>A (n.3730-33G>A)
c.3505-33G>A (n.3505-33G>A)
n.25G>A
c.186-399G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7560615G=CA2320979294PNPLA6c.3700-33G= (n.3700-33G=)
c.3586-33G= (n.3586-33G=)
c.3730-33G= (n.3730-33G=)
c.3505-33G= (n.3505-33G=)
n.25G=
c.186-399G=
19g.7560615G>TCA2587958163PNPLA6c.3700-33G>T (n.3700-33G>T)
c.3586-33G>T (n.3586-33G>T)
c.3730-33G>T (n.3730-33G>T)
c.3505-33G>T (n.3505-33G>T)
n.25G>T
c.186-399G>T
 gnomAD v4
19g.7560616C>ACA2576598064PNPLA6c.3700-32C>A (n.3700-32C>A)
c.3586-32C>A (n.3586-32C>A)
c.3730-32C>A (n.3730-32C>A)
c.3505-32C>A (n.3505-32C>A)
n.26C>A
c.186-398C>A
 gnomAD v4
19g.7560616C=CA2320979295PNPLA6c.3700-32C= (n.3700-32C=)
c.3586-32C= (n.3586-32C=)
c.3730-32C= (n.3730-32C=)
c.3505-32C= (n.3505-32C=)
n.26C=
c.186-398C=
19g.7560616C>TCA631325721PNPLA6c.3700-32C>T (n.3700-32C>T)
c.3586-32C>T (n.3586-32C>T)
c.3730-32C>T (n.3730-32C>T)
c.3505-32C>T (n.3505-32C>T)
n.26C>T
c.186-398C>T
 dbSNP gnomAD v2 gnomAD v4
19g.7560617A>TCA2576598065PNPLA6c.3700-31A>T (n.3700-31A>T)
c.3586-31A>T (n.3586-31A>T)
c.3730-31A>T (n.3730-31A>T)
c.3505-31A>T (n.3505-31A>T)
n.27A>T
c.186-397A>T
19g.7560618G>TCA2587958164PNPLA6c.3700-30G>T (n.3700-30G>T)
c.3586-30G>T (n.3586-30G>T)
c.3730-30G>T (n.3730-30G>T)
c.3505-30G>T (n.3505-30G>T)
n.28G>T
c.186-396G>T
 gnomAD v4
19g.7560620C>ACA2587958165PNPLA6c.3700-28C>A (n.3700-28C>A)
c.3586-28C>A (n.3586-28C>A)
c.3730-28C>A (n.3730-28C>A)
c.3505-28C>A (n.3505-28C>A)
n.30C>A
c.186-394C>A
 gnomAD v4
19g.7560620C>TCA2576598066PNPLA6c.3700-28C>T (n.3700-28C>T)
c.3586-28C>T (n.3586-28C>T)
c.3730-28C>T (n.3730-28C>T)
c.3505-28C>T (n.3505-28C>T)
n.30C>T
c.186-394C>T
19g.7560621A=CA2320979296PNPLA6c.3700-27A= (n.3700-27A=)
c.3586-27A= (n.3586-27A=)
c.3730-27A= (n.3730-27A=)
c.3505-27A= (n.3505-27A=)
n.31A=
c.186-393A=
19g.7560621A>GCA9140552PNPLA6c.3700-27A>G (n.3700-27A>G)
c.3586-27A>G (n.3586-27A>G)
c.3730-27A>G (n.3730-27A>G)
c.3505-27A>G (n.3505-27A>G)
n.31A>G
c.186-393A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7560622T>CCA9140553PNPLA6c.3700-26T>C (n.3700-26T>C)
c.3586-26T>C (n.3586-26T>C)
c.3730-26T>C (n.3730-26T>C)
c.3505-26T>C (n.3505-26T>C)
n.32T>C
c.186-392T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7560622T=CA2320979297PNPLA6c.3700-26T= (n.3700-26T=)
c.3586-26T= (n.3586-26T=)
c.3730-26T= (n.3730-26T=)
c.3505-26T= (n.3505-26T=)
n.32T=
c.186-392T=
19g.7560625A=CA2320979298PNPLA6c.3700-23A= (n.3700-23A=)
c.3586-23A= (n.3586-23A=)
c.3730-23A= (n.3730-23A=)
c.3505-23A= (n.3505-23A=)
n.35A=
c.186-389A=
19g.7560625A>CCA2320979299PNPLA6c.3700-23A>C (n.3700-23A>C)
c.3586-23A>C (n.3586-23A>C)
c.3730-23A>C (n.3730-23A>C)
c.3505-23A>C (n.3505-23A>C)
n.35A>C
c.186-389A>C
 dbSNP
19g.7560625A>GCA2813477404PNPLA6c.3700-23A>G (n.3700-23A>G)
c.3586-23A>G (n.3586-23A>G)
c.3730-23A>G (n.3730-23A>G)
c.3505-23A>G (n.3505-23A>G)
n.35A>G
c.186-389A>G
19g.7560626C>ACA2576598067PNPLA6c.3700-22C>A (n.3700-22C>A)
c.3586-22C>A (n.3586-22C>A)
c.3730-22C>A (n.3730-22C>A)
c.3505-22C>A (n.3505-22C>A)
n.36C>A
c.186-388C>A
 gnomAD v4
19g.7560626C=CA2320979300PNPLA6c.3700-22C= (n.3700-22C=)
c.3586-22C= (n.3586-22C=)
c.3730-22C= (n.3730-22C=)
c.3505-22C= (n.3505-22C=)
n.36C=
c.186-388C=
19g.7560626C>TCA9140554PNPLA6c.3700-22C>T (n.3700-22C>T)
c.3586-22C>T (n.3586-22C>T)
c.3730-22C>T (n.3730-22C>T)
c.3505-22C>T (n.3505-22C>T)
n.36C>T
c.186-388C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7560628delCA2587958166PNPLA6c.3700-20del (n.3700-20del)
c.3586-20del (n.3586-20del)
c.3730-20del (n.3730-20del)
c.3505-20del (n.3505-20del)
n.38del
c.186-386del
 gnomAD v4
19g.7560627C>ACA2587958167PNPLA6c.3700-21C>A (n.3700-21C>A)
c.3586-21C>A (n.3586-21C>A)
c.3730-21C>A (n.3730-21C>A)
c.3505-21C>A (n.3505-21C>A)
n.37C>A
c.186-387C>A
 gnomAD v4
19g.7560627C=CA2320979301PNPLA6c.3700-21C= (n.3700-21C=)
c.3586-21C= (n.3586-21C=)
c.3730-21C= (n.3730-21C=)
c.3505-21C= (n.3505-21C=)
n.37C=
c.186-387C=
19g.7560627C>TCA9140555PNPLA6c.3700-21C>T (n.3700-21C>T)
c.3586-21C>T (n.3586-21C>T)
c.3730-21C>T (n.3730-21C>T)
c.3505-21C>T (n.3505-21C>T)
n.37C>T
c.186-387C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7560628C>ACA2587958168PNPLA6c.3700-20C>A (n.3700-20C>A)
c.3586-20C>A (n.3586-20C>A)
c.3730-20C>A (n.3730-20C>A)
c.3505-20C>A (n.3505-20C>A)
n.38C>A
c.186-386C>A
 gnomAD v4
19g.7560628C>TCA2587958169PNPLA6c.3700-20C>T (n.3700-20C>T)
c.3586-20C>T (n.3586-20C>T)
c.3730-20C>T (n.3730-20C>T)
c.3505-20C>T (n.3505-20C>T)
n.38C>T
c.186-386C>T
 gnomAD v4
19g.7560630G>ACA2576598068PNPLA6c.3700-18G>A (n.3700-18G>A)
c.3586-18G>A (n.3586-18G>A)
c.3730-18G>A (n.3730-18G>A)
c.3505-18G>A (n.3505-18G>A)
n.40G>A
c.186-384G>A
 gnomAD v4
19g.7560631C>ACA2587958170PNPLA6c.3700-17C>A (n.3700-17C>A)
c.3586-17C>A (n.3586-17C>A)
c.3730-17C>A (n.3730-17C>A)
c.3505-17C>A (n.3505-17C>A)
n.41C>A
c.186-383C>A
 gnomAD v4
19g.7560631C>TCA2587958171PNPLA6c.3700-17C>T (n.3700-17C>T)
c.3586-17C>T (n.3586-17C>T)
c.3730-17C>T (n.3730-17C>T)
c.3505-17C>T (n.3505-17C>T)
n.41C>T
c.186-383C>T
 gnomAD v4
19g.7560632C>ACA2587958172PNPLA6c.3700-16C>A (n.3700-16C>A)
c.3586-16C>A (n.3586-16C>A)
c.3730-16C>A (n.3730-16C>A)
c.3505-16C>A (n.3505-16C>A)
n.42C>A
c.186-382C>A
 gnomAD v4
19g.7560633C>TCA2576598069PNPLA6c.3700-15C>T (n.3700-15C>T)
c.3586-15C>T (n.3586-15C>T)
c.3730-15C>T (n.3730-15C>T)
c.3505-15C>T (n.3505-15C>T)
n.43C>T
c.186-381C>T
 gnomAD v4
19g.7560634C>ACA2587958173PNPLA6c.3700-14C>A (n.3700-14C>A)
c.3586-14C>A (n.3586-14C>A)
c.3730-14C>A (n.3730-14C>A)
c.3505-14C>A (n.3505-14C>A)
n.44C>A
c.186-380C>A
 gnomAD v4
19g.7560634C=CA2320979302PNPLA6c.3700-14C= (n.3700-14C=)
c.3586-14C= (n.3586-14C=)
c.3730-14C= (n.3730-14C=)
c.3505-14C= (n.3505-14C=)
n.44C=
c.186-380C=
19g.7560634C>GCA2576598070PNPLA6c.3700-14C>G (n.3700-14C>G)
c.3586-14C>G (n.3586-14C>G)
c.3730-14C>G (n.3730-14C>G)
c.3505-14C>G (n.3505-14C>G)
n.44C>G
c.186-380C>G
 gnomAD v4
19g.7560634C>TCA884242203PNPLA6c.3700-14C>T (n.3700-14C>T)
c.3586-14C>T (n.3586-14C>T)
c.3730-14C>T (n.3730-14C>T)
c.3505-14C>T (n.3505-14C>T)
n.44C>T
c.186-380C>T
 dbSNP gnomAD v3 gnomAD v4
19g.7560635T>ACA2587958174PNPLA6c.3700-13T>A (n.3700-13T>A)
c.3586-13T>A (n.3586-13T>A)
c.3730-13T>A (n.3730-13T>A)
c.3505-13T>A (n.3505-13T>A)
n.45T>A
c.186-379T>A
 gnomAD v4
19g.7560635T>CCA2587958175PNPLA6c.3700-13T>C (n.3700-13T>C)
c.3586-13T>C (n.3586-13T>C)
c.3730-13T>C (n.3730-13T>C)
c.3505-13T>C (n.3505-13T>C)
n.45T>C
c.186-379T>C
 gnomAD v4
19g.7560636C>ACA2587958176PNPLA6c.3700-12C>A (n.3700-12C>A)
c.3586-12C>A (n.3586-12C>A)
c.3730-12C>A (n.3730-12C>A)
c.3505-12C>A (n.3505-12C>A)
n.46C>A
c.186-378C>A
 gnomAD v4
19g.7560636C=CA2320979303PNPLA6c.3700-12C= (n.3700-12C=)
c.3586-12C= (n.3586-12C=)
c.3730-12C= (n.3730-12C=)
c.3505-12C= (n.3505-12C=)
n.46C=
c.186-378C=
19g.7560636C>GCA2587958177PNPLA6c.3700-12C>G (n.3700-12C>G)
c.3586-12C>G (n.3586-12C>G)
c.3730-12C>G (n.3730-12C>G)
c.3505-12C>G (n.3505-12C>G)
n.46C>G
c.186-378C>G
 gnomAD v4
19g.7560636C>TCA2320979304PNPLA6c.3700-12C>T (n.3700-12C>T)
c.3586-12C>T (n.3586-12C>T)
c.3730-12C>T (n.3730-12C>T)
c.3505-12C>T (n.3505-12C>T)
n.46C>T
c.186-378C>T
 dbSNP gnomAD v4
19g.7560637A>GCA2587958178PNPLA6c.3700-11A>G (n.3700-11A>G)
c.3586-11A>G (n.3586-11A>G)
c.3730-11A>G (n.3730-11A>G)
c.3505-11A>G (n.3505-11A>G)
n.47A>G
c.186-377A>G
 gnomAD v4
19g.7560639T>GCA304882891PNPLA6c.3700-9T>G (n.3700-9T>G)
c.3586-9T>G (n.3586-9T>G)
c.3730-9T>G (n.3730-9T>G)
c.3505-9T>G (n.3505-9T>G)
n.49T>G
c.186-375T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7560639T=CA2320979305PNPLA6c.3700-9T= (n.3700-9T=)
c.3586-9T= (n.3586-9T=)
c.3730-9T= (n.3730-9T=)
c.3505-9T= (n.3505-9T=)
n.49T=
c.186-375T=
19g.7560641C>ACA2576598071PNPLA6c.3700-7C>A (n.3700-7C>A)
c.3586-7C>A (n.3586-7C>A)
c.3730-7C>A (n.3730-7C>A)
c.3505-7C>A (n.3505-7C>A)
n.51C>A
c.186-373C>A
 gnomAD v4
19g.7560641C=CA2320979306PNPLA6c.3700-7C= (n.3700-7C=)
c.3586-7C= (n.3586-7C=)
c.3730-7C= (n.3730-7C=)
c.3505-7C= (n.3505-7C=)
n.51C=
c.186-373C=
19g.7560641C>TCA631325731PNPLA6c.3700-7C>T (n.3700-7C>T)
c.3586-7C>T (n.3586-7C>T)
c.3730-7C>T (n.3730-7C>T)
c.3505-7C>T (n.3505-7C>T)
n.51C>T
c.186-373C>T
 dbSNP gnomAD v2 gnomAD v4
19g.7560642C>ACA2576598072PNPLA6c.3700-6C>A (n.3700-6C>A)
c.3586-6C>A (n.3586-6C>A)
c.3730-6C>A (n.3730-6C>A)
c.3505-6C>A (n.3505-6C>A)
n.52C>A
c.186-372C>A
19g.7560642C=CA2320979307PNPLA6c.3700-6C= (n.3700-6C=)
c.3586-6C= (n.3586-6C=)
c.3730-6C= (n.3730-6C=)
c.3505-6C= (n.3505-6C=)
n.52C=
c.186-372C=
19g.7560642C>GCA631325733PNPLA6c.3700-6C>G (n.3700-6C>G)
c.3586-6C>G (n.3586-6C>G)
c.3730-6C>G (n.3730-6C>G)
c.3505-6C>G (n.3505-6C>G)
n.52C>G
c.186-372C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7560643C>ACA2587958180PNPLA6c.3700-5C>A (n.3700-5C>A)
c.3586-5C>A (n.3586-5C>A)
c.3730-5C>A (n.3730-5C>A)
c.3505-5C>A (n.3505-5C>A)
n.53C>A
c.186-371C>A
 gnomAD v4
19g.7560643C>TCA2587958179PNPLA6c.3700-5C>T (n.3700-5C>T)
c.3586-5C>T (n.3586-5C>T)
c.3730-5C>T (n.3730-5C>T)
c.3505-5C>T (n.3505-5C>T)
n.53C>T
c.186-371C>T
 gnomAD v4
19g.7560645C>ACA2587958181PNPLA6c.3700-3C>A (n.3700-3C>A)
c.3586-3C>A (n.3586-3C>A)
c.3730-3C>A (n.3730-3C>A)
c.3505-3C>A (n.3505-3C>A)
n.55C>A
c.186-369C>A
 gnomAD v4
19g.7560645C=CA2320979308PNPLA6c.3700-3C= (n.3700-3C=)
c.3586-3C= (n.3586-3C=)
c.3730-3C= (n.3730-3C=)
c.3505-3C= (n.3505-3C=)
n.55C=
c.186-369C=
19g.7560645C>GCA304882894PNPLA6c.3700-3C>G (n.3700-3C>G)
c.3586-3C>G (n.3586-3C>G)
c.3730-3C>G (n.3730-3C>G)
c.3505-3C>G (n.3505-3C>G)
n.55C>G
c.186-369C>G
 dbSNP
19g.7560645C>TCA2320979309PNPLA6c.3700-3C>T (n.3700-3C>T)
c.3586-3C>T (n.3586-3C>T)
c.3730-3C>T (n.3730-3C>T)
c.3505-3C>T (n.3505-3C>T)
n.55C>T
c.186-369C>T
 ClinVar dbSNP gnomAD v4
19g.7560646A>CCA403137289PNPLA6c.3700-2A>C (n.3700-2A>C)
c.3586-2A>C (n.3586-2A>C)
c.3730-2A>C (n.3730-2A>C)
c.3505-2A>C (n.3505-2A>C)
n.56A>C
c.186-368A>C
19g.7560646A>GCA403137286PNPLA6c.3700-2A>G (n.3700-2A>G)
c.3586-2A>G (n.3586-2A>G)
c.3730-2A>G (n.3730-2A>G)
c.3505-2A>G (n.3505-2A>G)
n.56A>G
c.186-368A>G
19g.7560646A>TCA403137288PNPLA6c.3700-2A>T (n.3700-2A>T)
c.3586-2A>T (n.3586-2A>T)
c.3730-2A>T (n.3730-2A>T)
c.3505-2A>T (n.3505-2A>T)
n.56A>T
c.186-368A>T
19g.7560647G>ACA403137291PNPLA6c.3700-1G>A (n.3700-1G>A)
c.3586-1G>A (n.3586-1G>A)
c.3730-1G>A (n.3730-1G>A)
c.3505-1G>A (n.3505-1G>A)
n.57G>A
c.186-367G>A
19g.7560647G>CCA403137292PNPLA6c.3700-1G>C (n.3700-1G>C)
c.3586-1G>C (n.3586-1G>C)
c.3730-1G>C (n.3730-1G>C)
c.3505-1G>C (n.3505-1G>C)
n.57G>C
c.186-367G>C
19g.7560647G>TCA403137294PNPLA6c.3700-1G>T (n.3700-1G>T)
c.3586-1G>T (n.3586-1G>T)
c.3730-1G>T (n.3730-1G>T)
c.3505-1G>T (n.3505-1G>T)
n.57G>T
c.186-367G>T
19g.7560648delCA2587958182PNPLA6c.3700del
c.3586del
c.3730del
c.3505del
n.58del
c.186-366del
 gnomAD v4
19g.7560648G>ACA403137296PNPLA6c.3700G>A (p.Asp1234Asn)
c.3586G>A (p.Asp1196Asn)
c.3730G>A (p.Asp1244Asn)
c.3505G>A (p.Asp1169Asn)
n.58G>A
c.186-366G>A
19g.7560648G>CCA403137300PNPLA6c.3700G>C (p.Asp1234His)
c.3586G>C (p.Asp1196His)
c.3730G>C (p.Asp1244His)
c.3505G>C (p.Asp1169His)
n.58G>C
c.186-366G>C
19g.7560648G>TCA403137303PNPLA6c.3700G>T (p.Asp1234Tyr)
c.3586G>T (p.Asp1196Tyr)
c.3730G>T (p.Asp1244Tyr)
c.3505G>T (p.Asp1169Tyr)
n.58G>T
c.186-366G>T
 gnomAD v4
19g.7560649A=CA2320979310PNPLA6c.3701A= (p.Asp1234=)
c.3587A= (p.Asp1196=)
c.3731A= (p.Asp1244=)
c.3506A= (p.Asp1169=)
n.59A=
c.186-365A=
19g.7560649A>CCA403137306PNPLA6c.3701A>C (p.Asp1234Ala)
c.3587A>C (p.Asp1196Ala)
c.3731A>C (p.Asp1244Ala)
c.3506A>C (p.Asp1169Ala)
n.59A>C
c.186-365A>C
19g.7560649A>GCA403137309PNPLA6c.3701A>G (p.Asp1234Gly)
c.3587A>G (p.Asp1196Gly)
c.3731A>G (p.Asp1244Gly)
c.3506A>G (p.Asp1169Gly)
n.59A>G
c.186-365A>G
19g.7560649A>TCA9140556PNPLA6c.3701A>T (p.Asp1234Val)
c.3587A>T (p.Asp1196Val)
c.3731A>T (p.Asp1244Val)
c.3506A>T (p.Asp1169Val)
n.59A>T
c.186-365A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.7560650T>ACA403137313PNPLA6c.3702T>A (p.Asp1234Glu)
c.3588T>A (p.Asp1196Glu)
c.3732T>A (p.Asp1244Glu)
c.3507T>A (p.Asp1169Glu)
n.60T>A
c.186-364T>A
19g.7560650T>CCA505245098PNPLA6c.3702T>C (p.Asp1234=)
c.3588T>C (p.Asp1196=)
c.3732T>C (p.Asp1244=)
c.3507T>C (p.Asp1169=)
n.60T>C
c.186-364T>C
19g.7560650T>GCA403137315PNPLA6c.3702T>G (p.Asp1234Glu)
c.3588T>G (p.Asp1196Glu)
c.3732T>G (p.Asp1244Glu)
c.3507T>G (p.Asp1169Glu)
n.60T>G
c.186-364T>G
19g.7560651G>ACA9140557PNPLA6c.3703G>A (p.Val1235Met)
c.3589G>A (p.Val1197Met)
c.3733G>A (p.Val1245Met)
c.3508G>A (p.Val1170Met)
n.61G>A
c.186-363G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.7560651G>CCA403137318PNPLA6c.3703G>C (p.Val1235Leu)
c.3589G>C (p.Val1197Leu)
c.3733G>C (p.Val1245Leu)
c.3508G>C (p.Val1170Leu)
n.61G>C
c.186-363G>C
19g.7560651G=CA2320979311PNPLA6c.3703G= (p.Val1235=)
c.3589G= (p.Val1197=)
c.3733G= (p.Val1245=)
c.3508G= (p.Val1170=)
n.61G=
c.186-363G=
19g.7560651G>TCA403137323PNPLA6c.3703G>T (p.Val1235Leu)
c.3589G>T (p.Val1197Leu)
c.3733G>T (p.Val1245Leu)
c.3508G>T (p.Val1170Leu)
n.61G>T
c.186-363G>T
19g.7560652T>ACA403137325PNPLA6c.3704T>A (p.Val1235Glu)
c.3590T>A (p.Val1197Glu)
c.3734T>A (p.Val1245Glu)
c.3509T>A (p.Val1170Glu)
n.62T>A
c.186-362T>A
19g.7560652T>CCA403137326PNPLA6c.3704T>C (p.Val1235Ala)
c.3590T>C (p.Val1197Ala)
c.3734T>C (p.Val1245Ala)
c.3509T>C (p.Val1170Ala)
n.62T>C
c.186-362T>C
19g.7560652T>GCA403137327PNPLA6c.3704T>G (p.Val1235Gly)
c.3590T>G (p.Val1197Gly)
c.3734T>G (p.Val1245Gly)
c.3509T>G (p.Val1170Gly)
n.62T>G
c.186-362T>G
19g.7560653G>ACA505245099PNPLA6c.3705G>A (p.Val1235=)
c.3591G>A (p.Val1197=)
c.3735G>A (p.Val1245=)
c.3510G>A (p.Val1170=)
n.63G>A
c.186-361G>A
19g.7560653G>CCA505245100PNPLA6c.3705G>C (p.Val1235=)
c.3591G>C (p.Val1197=)
c.3735G>C (p.Val1245=)
c.3510G>C (p.Val1170=)
n.63G>C
c.186-361G>C
19g.7560653G>TCA505245101PNPLA6c.3705G>T (p.Val1235=)
c.3591G>T (p.Val1197=)
c.3735G>T (p.Val1245=)
c.3510G>T (p.Val1170=)
n.63G>T
c.186-361G>T
19g.7560654G>ACA403137330PNPLA6c.3706G>A (p.Gly1236Ser)
c.3592G>A (p.Gly1198Ser)
c.3736G>A (p.Gly1246Ser)
c.3511G>A (p.Gly1171Ser)
n.64G>A
c.186-360G>A
19g.7560654G>CCA403137332PNPLA6c.3706G>C (p.Gly1236Arg)
c.3592G>C (p.Gly1198Arg)
c.3736G>C (p.Gly1246Arg)
c.3511G>C (p.Gly1171Arg)
n.64G>C
c.186-360G>C
19g.7560654G>TCA403137336PNPLA6c.3706G>T (p.Gly1236Cys)
c.3592G>T (p.Gly1198Cys)
c.3736G>T (p.Gly1246Cys)
c.3511G>T (p.Gly1171Cys)
n.64G>T
c.186-360G>T
 dbSNP
19g.7560655G>ACA403137339PNPLA6c.3707G>A (p.Gly1236Asp)
c.3593G>A (p.Gly1198Asp)
c.3737G>A (p.Gly1246Asp)
c.3512G>A (p.Gly1171Asp)
n.65G>A
c.186-359G>A
19g.7560655G>CCA403137340PNPLA6c.3707G>C (p.Gly1236Ala)
c.3593G>C (p.Gly1198Ala)
c.3737G>C (p.Gly1246Ala)
c.3512G>C (p.Gly1171Ala)
n.65G>C
c.186-359G>C
19g.7560655G>TCA403137341PNPLA6c.3707G>T (p.Gly1236Val)
c.3593G>T (p.Gly1198Val)
c.3737G>T (p.Gly1246Val)
c.3512G>T (p.Gly1171Val)
n.65G>T
c.186-359G>T
19g.7560656C>ACA505245102PNPLA6c.3708C>A (p.Gly1236=)
c.3594C>A (p.Gly1198=)
c.3738C>A (p.Gly1246=)
c.3513C>A (p.Gly1171=)
n.66C>A
c.186-358C>A
 gnomAD v4
19g.7560656C=CA2320979312PNPLA6c.3708C= (p.Gly1236=)
c.3594C= (p.Gly1198=)
c.3738C= (p.Gly1246=)
c.3513C= (p.Gly1171=)
n.66C=
c.186-358C=
19g.7560656C>GCA505245103PNPLA6c.3708C>G (p.Gly1236=)
c.3594C>G (p.Gly1198=)
c.3738C>G (p.Gly1246=)
c.3513C>G (p.Gly1171=)
n.66C>G
c.186-358C>G
 dbSNP
19g.7560656C>TCA505245104PNPLA6c.3708C>T (p.Gly1236=)
c.3594C>T (p.Gly1198=)
c.3738C>T (p.Gly1246=)
c.3513C>T (p.Gly1171=)
n.66C>T
c.186-358C>T
19g.7560657T>ACA403137344PNPLA6c.3709T>A (p.Tyr1237Asn)
c.3595T>A (p.Tyr1199Asn)
c.3739T>A (p.Tyr1247Asn)
c.3514T>A (p.Tyr1172Asn)
n.67T>A
c.186-357T>A
19g.7560657T>CCA403137347PNPLA6c.3709T>C (p.Tyr1237His)
c.3595T>C (p.Tyr1199His)
c.3739T>C (p.Tyr1247His)
c.3514T>C (p.Tyr1172His)
n.67T>C
c.186-357T>C
 ClinVar dbSNP
19g.7560657T>GCA403137348PNPLA6c.3709T>G (p.Tyr1237Asp)
c.3595T>G (p.Tyr1199Asp)
c.3739T>G (p.Tyr1247Asp)
c.3514T>G (p.Tyr1172Asp)
n.67T>G
c.186-357T>G
19g.7560657dupCA2587958183PNPLA6c.3709dup (p.Tyr1237LeufsTer18)
c.3595dup (p.Tyr1199LeufsTer18)
c.3739dup (p.Tyr1247LeufsTer18)
c.3514dup (p.Tyr1172LeufsTer18)
n.67dup
c.186-357dup
 gnomAD v4
19g.7560658A>CCA403137354PNPLA6c.3710A>C (p.Tyr1237Ser)
c.3596A>C (p.Tyr1199Ser)
c.3740A>C (p.Tyr1247Ser)
c.3515A>C (p.Tyr1172Ser)
n.68A>C
c.186-356A>C
19g.7560658A>GCA403137357PNPLA6c.3710A>G (p.Tyr1237Cys)
c.3596A>G (p.Tyr1199Cys)
c.3740A>G (p.Tyr1247Cys)
c.3515A>G (p.Tyr1172Cys)
n.68A>G
c.186-356A>G
19g.7560658A>TCA403137351PNPLA6c.3710A>T (p.Tyr1237Phe)
c.3596A>T (p.Tyr1199Phe)
c.3740A>T (p.Tyr1247Phe)
c.3515A>T (p.Tyr1172Phe)
n.68A>T
c.186-356A>T
19g.7560659C>ACA403137362PNPLA6c.3711C>A (p.Tyr1237Ter)
c.3597C>A (p.Tyr1199Ter)
c.3741C>A (p.Tyr1247Ter)
c.3516C>A (p.Tyr1172Ter)
n.69C>A
c.186-355C>A
 dbSNP gnomAD v2
19g.7560659C=CA2320979313PNPLA6c.3711C= (p.Tyr1237=)
c.3597C= (p.Tyr1199=)
c.3741C= (p.Tyr1247=)
c.3516C= (p.Tyr1172=)
n.69C=
c.186-355C=
19g.7560659C>GCA403137359PNPLA6c.3711C>G (p.Tyr1237Ter)
c.3597C>G (p.Tyr1199Ter)
c.3741C>G (p.Tyr1247Ter)
c.3516C>G (p.Tyr1172Ter)
n.69C>G
c.186-355C>G
19g.7560659C>TCA505245105PNPLA6c.3711C>T (p.Tyr1237=)
c.3597C>T (p.Tyr1199=)
c.3741C>T (p.Tyr1247=)
c.3516C>T (p.Tyr1172=)
n.69C>T
c.186-355C>T
 ClinVar
19g.7560660C>ACA9140559PNPLA6c.3712C>A (p.Gln1238Lys)
c.3598C>A (p.Gln1200Lys)
c.3742C>A (p.Gln1248Lys)
c.3517C>A (p.Gln1173Lys)
n.70C>A
c.186-354C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.7560660C=CA2320979314PNPLA6c.3712C= (p.Gln1238=)
c.3598C= (p.Gln1200=)
c.3742C= (p.Gln1248=)
c.3517C= (p.Gln1173=)
n.70C=
c.186-354C=
19g.7560660C>GCA9140558PNPLA6c.3712C>G (p.Gln1238Glu)
c.3598C>G (p.Gln1200Glu)
c.3742C>G (p.Gln1248Glu)
c.3517C>G (p.Gln1173Glu)
n.70C>G
c.186-354C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7560660C>TCA403137365PNPLA6c.3712C>T (p.Gln1238Ter)
c.3598C>T (p.Gln1200Ter)
c.3742C>T (p.Gln1248Ter)
c.3517C>T (p.Gln1173Ter)
n.70C>T
c.186-354C>T
19g.7560661A>CCA403137371PNPLA6c.3713A>C (p.Gln1238Pro)
c.3599A>C (p.Gln1200Pro)
c.3743A>C (p.Gln1248Pro)
c.3518A>C (p.Gln1173Pro)
n.71A>C
c.186-353A>C
19g.7560661A>GCA403137373PNPLA6c.3713A>G (p.Gln1238Arg)
c.3599A>G (p.Gln1200Arg)
c.3743A>G (p.Gln1248Arg)
c.3518A>G (p.Gln1173Arg)
n.71A>G
c.186-353A>G
 gnomAD v4
19g.7560661A>TCA403137375PNPLA6c.3713A>T (p.Gln1238Leu)
c.3599A>T (p.Gln1200Leu)
c.3743A>T (p.Gln1248Leu)
c.3518A>T (p.Gln1173Leu)
n.71A>T
c.186-353A>T
19g.7560662G>ACA505245106PNPLA6c.3714G>A (p.Gln1238=)
c.3600G>A (p.Gln1200=)
c.3744G>A (p.Gln1248=)
c.3519G>A (p.Gln1173=)
n.72G>A
c.186-352G>A
 gnomAD v4
19g.7560662G>CCA403137378PNPLA6c.3714G>C (p.Gln1238His)
c.3600G>C (p.Gln1200His)
c.3744G>C (p.Gln1248His)
c.3519G>C (p.Gln1173His)
n.72G>C
c.186-352G>C
19g.7560662G>TCA403137381PNPLA6c.3714G>T (p.Gln1238His)
c.3600G>T (p.Gln1200His)
c.3744G>T (p.Gln1248His)
c.3519G>T (p.Gln1173His)
n.72G>T
c.186-352G>T
 COSMIC COSMIC
19g.7560663T>ACA403137383PNPLA6c.3715T>A (p.Tyr1239Asn)
c.3601T>A (p.Tyr1201Asn)
c.3745T>A (p.Tyr1249Asn)
c.3520T>A (p.Tyr1174Asn)
n.73T>A
c.186-351T>A
19g.7560663T>CCA403137386PNPLA6c.3715T>C (p.Tyr1239His)
c.3601T>C (p.Tyr1201His)
c.3745T>C (p.Tyr1249His)
c.3520T>C (p.Tyr1174His)
n.73T>C
c.186-351T>C
19g.7560663T>GCA403137388PNPLA6c.3715T>G (p.Tyr1239Asp)
c.3601T>G (p.Tyr1201Asp)
c.3745T>G (p.Tyr1249Asp)
c.3520T>G (p.Tyr1174Asp)
n.73T>G
c.186-351T>G
19g.7560664A>CCA403137391PNPLA6c.3716A>C (p.Tyr1239Ser)
c.3602A>C (p.Tyr1201Ser)
c.3746A>C (p.Tyr1249Ser)
c.3521A>C (p.Tyr1174Ser)
n.74A>C
c.186-350A>C
19g.7560664A>GCA403137393PNPLA6c.3716A>G (p.Tyr1239Cys)
c.3602A>G (p.Tyr1201Cys)
c.3746A>G (p.Tyr1249Cys)
c.3521A>G (p.Tyr1174Cys)
n.74A>G
c.186-350A>G
19g.7560664A>TCA403137397PNPLA6c.3716A>T (p.Tyr1239Phe)
c.3602A>T (p.Tyr1201Phe)
c.3746A>T (p.Tyr1249Phe)
c.3521A>T (p.Tyr1174Phe)
n.74A>T
c.186-350A>T
19g.7560665C>ACA403137402PNPLA6c.3717C>A (p.Tyr1239Ter)
c.3603C>A (p.Tyr1201Ter)
c.3747C>A (p.Tyr1249Ter)
c.3522C>A (p.Tyr1174Ter)
n.75C>A
c.186-349C>A
19g.7560665C=CA2320979315PNPLA6c.3717C= (p.Tyr1239=)
c.3603C= (p.Tyr1201=)
c.3747C= (p.Tyr1249=)
c.3522C= (p.Tyr1174=)
n.75C=
c.186-349C=
19g.7560665C>GCA403137398PNPLA6c.3717C>G (p.Tyr1239Ter)
c.3603C>G (p.Tyr1201Ter)
c.3747C>G (p.Tyr1249Ter)
c.3522C>G (p.Tyr1174Ter)
n.75C>G
c.186-349C>G
19g.7560665C>TCA9140560PNPLA6c.3717C>T (p.Tyr1239=)
c.3603C>T (p.Tyr1201=)
c.3747C>T (p.Tyr1249=)
c.3522C>T (p.Tyr1174=)
n.75C>T
c.186-349C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.7560665_7560666delinsCGCA2320979316PNPLA6c.3717_3718delinsCG (p.Tyr1239=)
c.3603_3604delinsCG (p.Tyr1201=)
c.3747_3748delinsCG (p.Tyr1249=)
c.3522_3523delinsCG (p.Tyr1174=)
n.75_76delinsCG
c.186-349_186-348delinsCG
19g.7560666G>ACA9140561PNPLA6c.3718G>A (p.Gly1240Arg)
c.3604G>A (p.Gly1202Arg)
c.3748G>A (p.Gly1250Arg)
c.3523G>A (p.Gly1175Arg)
n.76G>A
c.186-348G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7560666G>CCA403137406PNPLA6c.3718G>C (p.Gly1240Arg)
c.3604G>C (p.Gly1202Arg)
c.3748G>C (p.Gly1250Arg)
c.3523G>C (p.Gly1175Arg)
n.76G>C
c.186-348G>C
19g.7560666G=CA2320979318PNPLA6c.3718G= (p.Gly1240=)
c.3604G= (p.Gly1202=)
c.3748G= (p.Gly1250=)
c.3523G= (p.Gly1175=)
n.76G=
c.186-348G=
19g.7560666G>TCA403137408PNPLA6c.3718G>T (p.Gly1240Trp)
c.3604G>T (p.Gly1202Trp)
c.3748G>T (p.Gly1250Trp)
c.3523G>T (p.Gly1175Trp)
n.76G>T
c.186-348G>T
19g.7560668delCA2320979317PNPLA6c.3720del (p.Lys1241ArgfsTer?)
c.3606del (p.Lys1203ArgfsTer?)
c.3750del (p.Lys1251ArgfsTer?)
c.3525del (p.Lys1176ArgfsTer?)
n.78del
c.186-346del
 dbSNP gnomAD v4
19g.7560667G>ACA403137412PNPLA6c.3719G>A (p.Gly1240Glu)
c.3605G>A (p.Gly1202Glu)
c.3749G>A (p.Gly1250Glu)
c.3524G>A (p.Gly1175Glu)
n.77G>A
c.186-347G>A
19g.7560667G>CCA403137418PNPLA6c.3719G>C (p.Gly1240Ala)
c.3605G>C (p.Gly1202Ala)
c.3749G>C (p.Gly1250Ala)
c.3524G>C (p.Gly1175Ala)
n.77G>C
c.186-347G>C
 dbSNP
19g.7560667G=CA2320979319PNPLA6c.3719G= (p.Gly1240=)
c.3605G= (p.Gly1202=)
c.3749G= (p.Gly1250=)
c.3524G= (p.Gly1175=)
n.77G=
c.186-347G=
19g.7560667G>TCA403137420PNPLA6c.3719G>T (p.Gly1240Val)
c.3605G>T (p.Gly1202Val)
c.3749G>T (p.Gly1250Val)
c.3524G>T (p.Gly1175Val)
n.77G>T
c.186-347G>T
19g.7560668G>ACA505245109PNPLA6c.3720G>A (p.Gly1240=)
c.3606G>A (p.Gly1202=)
c.3750G>A (p.Gly1250=)
c.3525G>A (p.Gly1175=)
n.78G>A
c.186-346G>A
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
19g.7560668G>CCA505245108PNPLA6c.3720G>C (p.Gly1240=)
c.3606G>C (p.Gly1202=)
c.3750G>C (p.Gly1250=)
c.3525G>C (p.Gly1175=)
n.78G>C
c.186-346G>C
19g.7560668G=CA2320979320PNPLA6c.3720G= (p.Gly1240=)
c.3606G= (p.Gly1202=)
c.3750G= (p.Gly1250=)
c.3525G= (p.Gly1175=)
n.78G=
c.186-346G=
19g.7560668G>TCA505245107PNPLA6c.3720G>T (p.Gly1240=)
c.3606G>T (p.Gly1202=)
c.3750G>T (p.Gly1250=)
c.3525G>T (p.Gly1175=)
n.78G>T
c.186-346G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7560669A>CCA403137423PNPLA6c.3721A>C (p.Lys1241Gln)
c.3607A>C (p.Lys1203Gln)
c.3751A>C (p.Lys1251Gln)
c.3526A>C (p.Lys1176Gln)
n.79A>C
c.186-345A>C
 gnomAD v4
19g.7560669A>GCA403137426PNPLA6c.3721A>G (p.Lys1241Glu)
c.3607A>G (p.Lys1203Glu)
c.3751A>G (p.Lys1251Glu)
c.3526A>G (p.Lys1176Glu)
n.79A>G
c.186-345A>G
19g.7560669A>TCA403137428PNPLA6c.3721A>T (p.Lys1241Ter)
c.3607A>T (p.Lys1203Ter)
c.3751A>T (p.Lys1251Ter)
c.3526A>T (p.Lys1176Ter)
n.79A>T
c.186-345A>T
19g.7560670A=CA2320979321PNPLA6c.3722A= (p.Lys1241=)
c.3608A= (p.Lys1203=)
c.3752A= (p.Lys1251=)
c.3527A= (p.Lys1176=)
n.80A=
c.186-344A=
19g.7560670A>CCA403137431PNPLA6c.3722A>C (p.Lys1241Thr)
c.3608A>C (p.Lys1203Thr)
c.3752A>C (p.Lys1251Thr)
c.3527A>C (p.Lys1176Thr)
n.80A>C
c.186-344A>C
19g.7560670A>GCA403137433PNPLA6c.3722A>G (p.Lys1241Arg)
c.3608A>G (p.Lys1203Arg)
c.3752A>G (p.Lys1251Arg)
c.3527A>G (p.Lys1176Arg)
n.80A>G
c.186-344A>G
 dbSNP gnomAD v2 gnomAD v4
19g.7560670A>TCA403137435PNPLA6c.3722A>T (p.Lys1241Met)
c.3608A>T (p.Lys1203Met)
c.3752A>T (p.Lys1251Met)
c.3527A>T (p.Lys1176Met)
n.80A>T
c.186-344A>T
19g.7560671G>ACA505245111PNPLA6c.3723G>A (p.Lys1241=)
c.3609G>A (p.Lys1203=)
c.3753G>A (p.Lys1251=)
c.3528G>A (p.Lys1176=)
n.81G>A
c.186-343G>A
 dbSNP gnomAD v4
19g.7560671G>CCA403137441PNPLA6c.3723G>C (p.Lys1241Asn)
c.3609G>C (p.Lys1203Asn)
c.3753G>C (p.Lys1251Asn)
c.3528G>C (p.Lys1176Asn)
n.81G>C
c.186-343G>C
 ClinVar dbSNP gnomAD v4
19g.7560671G=CA2320979322PNPLA6c.3723G= (p.Lys1241=)
c.3609G= (p.Lys1203=)
c.3753G= (p.Lys1251=)
c.3528G= (p.Lys1176=)
n.81G=
c.186-343G=
19g.7560671G>TCA403137438PNPLA6c.3723G>T (p.Lys1241Asn)
c.3609G>T (p.Lys1203Asn)
c.3753G>T (p.Lys1251Asn)
c.3528G>T (p.Lys1176Asn)
n.81G>T
c.186-343G>T
19g.7560672G>ACA9140562PNPLA6c.3724G>A (p.Ala1242Thr)
c.3610G>A (p.Ala1204Thr)
c.3754G>A (p.Ala1252Thr)
c.3529G>A (p.Ala1177Thr)
n.82G>A
c.186-342G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7560672G>CCA403137444PNPLA6c.3724G>C (p.Ala1242Pro)
c.3610G>C (p.Ala1204Pro)
c.3754G>C (p.Ala1252Pro)
c.3529G>C (p.Ala1177Pro)
n.82G>C
c.186-342G>C
19g.7560672G=CA2320979323PNPLA6c.3724G= (p.Ala1242=)
c.3610G= (p.Ala1204=)
c.3754G= (p.Ala1252=)
c.3529G= (p.Ala1177=)
n.82G=
c.186-342G=
19g.7560672G>TCA403137446PNPLA6c.3724G>T (p.Ala1242Ser)
c.3610G>T (p.Ala1204Ser)
c.3754G>T (p.Ala1252Ser)
c.3529G>T (p.Ala1177Ser)
n.82G>T
c.186-342G>T
19g.7560673C>ACA403137448PNPLA6c.3725C>A (p.Ala1242Glu)
c.3611C>A (p.Ala1204Glu)
c.3755C>A (p.Ala1252Glu)
c.3530C>A (p.Ala1177Glu)
n.83C>A
c.186-341C>A
 dbSNP
19g.7560673C=CA2320979324PNPLA6c.3725C= (p.Ala1242=)
c.3611C= (p.Ala1204=)
c.3755C= (p.Ala1252=)
c.3530C= (p.Ala1177=)
n.83C=
c.186-341C=
19g.7560673C>GCA403137450PNPLA6c.3725C>G (p.Ala1242Gly)
c.3611C>G (p.Ala1204Gly)
c.3755C>G (p.Ala1252Gly)
c.3530C>G (p.Ala1177Gly)
n.83C>G
c.186-341C>G
19g.7560673C>TCA9140563PNPLA6c.3725C>T (p.Ala1242Val)
c.3611C>T (p.Ala1204Val)
c.3755C>T (p.Ala1252Val)
c.3530C>T (p.Ala1177Val)
n.83C>T
c.186-341C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7560674G>ACA9140564PNPLA6c.3726G>A (p.Ala1242=)
c.3612G>A (p.Ala1204=)
c.3756G>A (p.Ala1252=)
c.3531G>A (p.Ala1177=)
n.84G>A
c.186-340G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7560674G>CCA505245112PNPLA6c.3726G>C (p.Ala1242=)
c.3612G>C (p.Ala1204=)
c.3756G>C (p.Ala1252=)
c.3531G>C (p.Ala1177=)
n.84G>C
c.186-340G>C
19g.7560674G=CA2320979325PNPLA6c.3726G= (p.Ala1242=)
c.3612G= (p.Ala1204=)
c.3756G= (p.Ala1252=)
c.3531G= (p.Ala1177=)
n.84G=
c.186-340G=
19g.7560674G>TCA505245113PNPLA6c.3726G>T (p.Ala1242=)
c.3612G>T (p.Ala1204=)
c.3756G>T (p.Ala1252=)
c.3531G>T (p.Ala1177=)
n.84G>T
c.186-340G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7560675G>ACA403137456PNPLA6c.3727G>A (p.Val1243Met)
c.3613G>A (p.Val1205Met)
c.3757G>A (p.Val1253Met)
c.3532G>A (p.Val1178Met)
n.85G>A
c.186-339G>A
19g.7560675G>CCA9140565PNPLA6c.3727G>C (p.Val1243Leu)
c.3613G>C (p.Val1205Leu)
c.3757G>C (p.Val1253Leu)
c.3532G>C (p.Val1178Leu)
n.85G>C
c.186-339G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.7560675G=CA2320979326PNPLA6c.3727G= (p.Val1243=)
c.3613G= (p.Val1205=)
c.3757G= (p.Val1253=)
c.3532G= (p.Val1178=)
n.85G=
c.186-339G=
19g.7560675G>TCA403137460PNPLA6c.3727G>T (p.Val1243Leu)
c.3613G>T (p.Val1205Leu)
c.3757G>T (p.Val1253Leu)
c.3532G>T (p.Val1178Leu)
n.85G>T
c.186-339G>T
 gnomAD v4
19g.7560676T>ACA403137463PNPLA6c.3728T>A (p.Val1243Glu)
c.3614T>A (p.Val1205Glu)
c.3758T>A (p.Val1253Glu)
c.3533T>A (p.Val1178Glu)
n.86T>A
c.186-338T>A
19g.7560676T>CCA9140566PNPLA6c.3728T>C (p.Val1243Ala)
c.3614T>C (p.Val1205Ala)
c.3758T>C (p.Val1253Ala)
c.3533T>C (p.Val1178Ala)
n.86T>C
c.186-338T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7560676T>GCA403137467PNPLA6c.3728T>G (p.Val1243Gly)
c.3614T>G (p.Val1205Gly)
c.3758T>G (p.Val1253Gly)
c.3533T>G (p.Val1178Gly)
n.86T>G
c.186-338T>G
19g.7560676T=CA2320979327PNPLA6c.3728T= (p.Val1243=)
c.3614T= (p.Val1205=)
c.3758T= (p.Val1253=)
c.3533T= (p.Val1178=)
n.86T=
c.186-338T=
19g.7560677G>ACA505245114PNPLA6c.3729G>A (p.Val1243=)
c.3615G>A (p.Val1205=)
c.3759G>A (p.Val1253=)
c.3534G>A (p.Val1178=)
n.87G>A
c.186-337G>A
19g.7560677G>CCA505245115PNPLA6c.3729G>C (p.Val1243=)
c.3615G>C (p.Val1205=)
c.3759G>C (p.Val1253=)
c.3534G>C (p.Val1178=)
n.87G>C
c.186-337G>C
19g.7560677G>TCA505245116PNPLA6c.3729G>T (p.Val1243=)
c.3615G>T (p.Val1205=)
c.3759G>T (p.Val1253=)
c.3534G>T (p.Val1178=)
n.87G>T
c.186-337G>T
19g.7560678T>ACA403137475PNPLA6c.3730T>A (p.Phe1244Ile)
c.3616T>A (p.Phe1206Ile)
c.3760T>A (p.Phe1254Ile)
c.3535T>A (p.Phe1179Ile)
n.88T>A
c.186-336T>A
19g.7560678T>CCA403137472PNPLA6c.3730T>C (p.Phe1244Leu)
c.3616T>C (p.Phe1206Leu)
c.3760T>C (p.Phe1254Leu)
c.3535T>C (p.Phe1179Leu)
n.88T>C
c.186-336T>C
19g.7560678T>GCA403137471PNPLA6c.3730T>G (p.Phe1244Val)
c.3616T>G (p.Phe1206Val)
c.3760T>G (p.Phe1254Val)
c.3535T>G (p.Phe1179Val)
n.88T>G
c.186-336T>G
19g.7560679T>ACA403137478PNPLA6c.3731T>A (p.Phe1244Tyr)
c.3617T>A (p.Phe1206Tyr)
c.3761T>A (p.Phe1254Tyr)
c.3536T>A (p.Phe1179Tyr)
n.89T>A
c.186-335T>A
19g.7560679T>CCA403137480PNPLA6c.3731T>C (p.Phe1244Ser)
c.3617T>C (p.Phe1206Ser)
c.3761T>C (p.Phe1254Ser)
c.3536T>C (p.Phe1179Ser)
n.89T>C
c.186-335T>C
19g.7560679T>GCA403137482PNPLA6c.3731T>G (p.Phe1244Cys)
c.3617T>G (p.Phe1206Cys)
c.3761T>G (p.Phe1254Cys)
c.3536T>G (p.Phe1179Cys)
n.89T>G
c.186-335T>G
19g.7560680T>ACA403137486PNPLA6c.3732T>A (p.Phe1244Leu)
c.3618T>A (p.Phe1206Leu)
c.3762T>A (p.Phe1254Leu)
c.3537T>A (p.Phe1179Leu)
n.90T>A
c.186-334T>A
19g.7560680T>CCA304882912PNPLA6c.3732T>C (p.Phe1244=)
c.3618T>C (p.Phe1206=)
c.3762T>C (p.Phe1254=)
c.3537T>C (p.Phe1179=)
n.90T>C
c.186-334T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.7560680T>GCA403137489PNPLA6c.3732T>G (p.Phe1244Leu)
c.3618T>G (p.Phe1206Leu)
c.3762T>G (p.Phe1254Leu)
c.3537T>G (p.Phe1179Leu)
n.90T>G
c.186-334T>G
 gnomAD v4
19g.7560680T=CA2320979328PNPLA6c.3732T= (p.Phe1244=)
c.3618T= (p.Phe1206=)
c.3762T= (p.Phe1254=)
c.3537T= (p.Phe1179=)
n.90T=
c.186-334T=
19g.7560681G>ACA403137493PNPLA6c.3733G>A (p.Gly1245Arg)
c.3619G>A (p.Gly1207Arg)
c.3763G>A (p.Gly1255Arg)
c.3538G>A (p.Gly1180Arg)
n.91G>A
c.186-333G>A
19g.7560681G>CCA403137495PNPLA6c.3733G>C (p.Gly1245Arg)
c.3619G>C (p.Gly1207Arg)
c.3763G>C (p.Gly1255Arg)
c.3538G>C (p.Gly1180Arg)
n.91G>C
c.186-333G>C
 dbSNP gnomAD v3 gnomAD v4
19g.7560681G=CA2320979329PNPLA6c.3733G= (p.Gly1245=)
c.3619G= (p.Gly1207=)
c.3763G= (p.Gly1255=)
c.3538G= (p.Gly1180=)
n.91G=
c.186-333G=
19g.7560681G>TCA403137498PNPLA6c.3733G>T (p.Gly1245Ter)
c.3619G>T (p.Gly1207Ter)
c.3763G>T (p.Gly1255Ter)
c.3538G>T (p.Gly1180Ter)
n.91G>T
c.186-333G>T
19g.7560682G>ACA403137501PNPLA6c.3734G>A (p.Gly1245Glu)
c.3620G>A (p.Gly1207Glu)
c.3764G>A (p.Gly1255Glu)
c.3539G>A (p.Gly1180Glu)
n.92G>A
c.186-332G>A
 COSMIC COSMIC
19g.7560682G>CCA403137504PNPLA6c.3734G>C (p.Gly1245Ala)
c.3620G>C (p.Gly1207Ala)
c.3764G>C (p.Gly1255Ala)
c.3539G>C (p.Gly1180Ala)
n.92G>C
c.186-332G>C
19g.7560682G>TCA403137506PNPLA6c.3734G>T (p.Gly1245Val)
c.3620G>T (p.Gly1207Val)
c.3764G>T (p.Gly1255Val)
c.3539G>T (p.Gly1180Val)
n.92G>T
c.186-332G>T
19g.7560683A>CCA505245117PNPLA6c.3735A>C (p.Gly1245=)
c.3621A>C (p.Gly1207=)
c.3765A>C (p.Gly1255=)
c.3540A>C (p.Gly1180=)
n.93A>C
c.186-331A>C
19g.7560683A>GCA505245118PNPLA6c.3735A>G (p.Gly1245=)
c.3621A>G (p.Gly1207=)
c.3765A>G (p.Gly1255=)
c.3540A>G (p.Gly1180=)
n.93A>G
c.186-331A>G
19g.7560683A>TCA505245119PNPLA6c.3735A>T (p.Gly1245=)
c.3621A>T (p.Gly1207=)
c.3765A>T (p.Gly1255=)
c.3540A>T (p.Gly1180=)
n.93A>T
c.186-331A>T
19g.7560684G>ACA403137510PNPLA6c.3736G>A (p.Gly1246Ser)
c.3622G>A (p.Gly1208Ser)
c.3766G>A (p.Gly1256Ser)
c.3541G>A (p.Gly1181Ser)
n.94G>A
c.186-330G>A
19g.7560684G>CCA403137512PNPLA6c.3736G>C (p.Gly1246Arg)
c.3622G>C (p.Gly1208Arg)
c.3766G>C (p.Gly1256Arg)
c.3541G>C (p.Gly1181Arg)
n.94G>C
c.186-330G>C
19g.7560684G>TCA403137515PNPLA6c.3736G>T (p.Gly1246Cys)
c.3622G>T (p.Gly1208Cys)
c.3766G>T (p.Gly1256Cys)
c.3541G>T (p.Gly1181Cys)
n.94G>T
c.186-330G>T
19g.7560685G>ACA403137522PNPLA6c.3737G>A (p.Gly1246Asp)
c.3623G>A (p.Gly1208Asp)
c.3767G>A (p.Gly1256Asp)
c.3542G>A (p.Gly1181Asp)
n.95G>A
c.186-329G>A
 gnomAD v4
19g.7560685G>CCA403137525PNPLA6c.3737G>C (p.Gly1246Ala)
c.3623G>C (p.Gly1208Ala)
c.3767G>C (p.Gly1256Ala)
c.3542G>C (p.Gly1181Ala)
n.95G>C
c.186-329G>C
19g.7560685G>TCA403137519PNPLA6c.3737G>T (p.Gly1246Val)
c.3623G>T (p.Gly1208Val)
c.3767G>T (p.Gly1256Val)
c.3542G>T (p.Gly1181Val)
n.95G>T
c.186-329G>T
19g.7560686C>ACA505245120PNPLA6c.3738C>A (p.Gly1246=)
c.3624C>A (p.Gly1208=)
c.3768C>A (p.Gly1256=)
c.3543C>A (p.Gly1181=)
n.96C>A
c.186-328C>A
 gnomAD v4
19g.7560686C>GCA505245123PNPLA6c.3738C>G (p.Gly1246=)
c.3624C>G (p.Gly1208=)
c.3768C>G (p.Gly1256=)
c.3543C>G (p.Gly1181=)
n.96C>G
c.186-328C>G
19g.7560686C>TCA505245121PNPLA6c.3738C>T (p.Gly1246=)
c.3624C>T (p.Gly1208=)
c.3768C>T (p.Gly1256=)
c.3543C>T (p.Gly1181=)
n.96C>T
c.186-328C>T
19g.7560687T>ACA403137529PNPLA6c.3739T>A (p.Trp1247Arg)
c.3625T>A (p.Trp1209Arg)
c.3769T>A (p.Trp1257Arg)
c.3544T>A (p.Trp1182Arg)
n.97T>A
c.186-327T>A
19g.7560687T>CCA9140567PNPLA6c.3739T>C (p.Trp1247Arg)
c.3625T>C (p.Trp1209Arg)
c.3769T>C (p.Trp1257Arg)
c.3544T>C (p.Trp1182Arg)
n.97T>C
c.186-327T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.7560687T>GCA403137532PNPLA6c.3739T>G (p.Trp1247Gly)
c.3625T>G (p.Trp1209Gly)
c.3769T>G (p.Trp1257Gly)
c.3544T>G (p.Trp1182Gly)
n.97T>G
c.186-327T>G
19g.7560687T=CA2320979330PNPLA6c.3739T= (p.Trp1247=)
c.3625T= (p.Trp1209=)
c.3769T= (p.Trp1257=)
c.3544T= (p.Trp1182=)
n.97T=
c.186-327T=
19g.7560688G>ACA403137542PNPLA6c.3740G>A (p.Trp1247Ter)
c.3626G>A (p.Trp1209Ter)
c.3770G>A (p.Trp1257Ter)
c.3545G>A (p.Trp1182Ter)
n.98G>A
c.186-326G>A
19g.7560688G>CCA403137544PNPLA6c.3740G>C (p.Trp1247Ser)
c.3626G>C (p.Trp1209Ser)
c.3770G>C (p.Trp1257Ser)
c.3545G>C (p.Trp1182Ser)
n.98G>C
c.186-326G>C
19g.7560688G>TCA403137548PNPLA6c.3740G>T (p.Trp1247Leu)
c.3626G>T (p.Trp1209Leu)
c.3770G>T (p.Trp1257Leu)
c.3545G>T (p.Trp1182Leu)
n.98G>T
c.186-326G>T
19g.7560689G>ACA403137551PNPLA6c.3741G>A (p.Trp1247Ter)
c.3627G>A (p.Trp1209Ter)
c.3771G>A (p.Trp1257Ter)
c.3546G>A (p.Trp1182Ter)
n.99G>A
c.186-325G>A
19g.7560689G>CCA403137554PNPLA6c.3741G>C (p.Trp1247Cys)
c.3627G>C (p.Trp1209Cys)
c.3771G>C (p.Trp1257Cys)
c.3546G>C (p.Trp1182Cys)
n.99G>C
c.186-325G>C
19g.7560689G>TCA403137557PNPLA6c.3741G>T (p.Trp1247Cys)
c.3627G>T (p.Trp1209Cys)
c.3771G>T (p.Trp1257Cys)
c.3546G>T (p.Trp1182Cys)
n.99G>T
c.186-325G>T
19g.7560690A=CA2320979331PNPLA6c.3742A= (p.Ser1248=)
c.3628A= (p.Ser1210=)
c.3772A= (p.Ser1258=)
c.3547A= (p.Ser1183=)
n.100A=
c.186-324A=
19g.7560690A>CCA403137560PNPLA6c.3742A>C (p.Ser1248Arg)
c.3628A>C (p.Ser1210Arg)
c.3772A>C (p.Ser1258Arg)
c.3547A>C (p.Ser1183Arg)
n.100A>C
c.186-324A>C
19g.7560690A>GCA403137563PNPLA6c.3742A>G (p.Ser1248Gly)
c.3628A>G (p.Ser1210Gly)
c.3772A>G (p.Ser1258Gly)
c.3547A>G (p.Ser1183Gly)
n.100A>G
c.186-324A>G
 dbSNP
19g.7560690A>TCA403137565PNPLA6c.3742A>T (p.Ser1248Cys)
c.3628A>T (p.Ser1210Cys)
c.3772A>T (p.Ser1258Cys)
c.3547A>T (p.Ser1183Cys)
n.100A>T
c.186-324A>T
19g.7560691G>ACA403137568PNPLA6c.3743G>A (p.Ser1248Asn)
c.3629G>A (p.Ser1210Asn)
c.3773G>A (p.Ser1258Asn)
c.3548G>A (p.Ser1183Asn)
n.101G>A
c.186-323G>A
19g.7560691G>CCA403137571PNPLA6c.3743G>C (p.Ser1248Thr)
c.3629G>C (p.Ser1210Thr)
c.3773G>C (p.Ser1258Thr)
c.3548G>C (p.Ser1183Thr)
n.101G>C
c.186-323G>C
19g.7560691G>TCA403137573PNPLA6c.3743G>T (p.Ser1248Ile)
c.3629G>T (p.Ser1210Ile)
c.3773G>T (p.Ser1258Ile)
c.3548G>T (p.Ser1183Ile)
n.101G>T
c.186-323G>T
19g.7560692C>ACA403137577PNPLA6c.3744C>A (p.Ser1248Arg)
c.3630C>A (p.Ser1210Arg)
c.3774C>A (p.Ser1258Arg)
c.3549C>A (p.Ser1183Arg)
n.102C>A
c.186-322C>A
19g.7560692C=CA2320979332PNPLA6c.3744C= (p.Ser1248=)
c.3630C= (p.Ser1210=)
c.3774C= (p.Ser1258=)
c.3549C= (p.Ser1183=)
n.102C=
c.186-322C=
19g.7560692C>GCA403137575PNPLA6c.3744C>G (p.Ser1248Arg)
c.3630C>G (p.Ser1210Arg)
c.3774C>G (p.Ser1258Arg)
c.3549C>G (p.Ser1183Arg)
n.102C>G
c.186-322C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.7560692C>TCA304882915PNPLA6c.3744C>T (p.Ser1248=)
c.3630C>T (p.Ser1210=)
c.3774C>T (p.Ser1258=)
c.3549C>T (p.Ser1183=)
n.102C>T
c.186-322C>T
 dbSNP gnomAD v4
19g.7560693C>ACA403137580PNPLA6c.3745C>A (p.Arg1249Ser)
c.3631C>A (p.Arg1211Ser)
c.3775C>A (p.Arg1259Ser)
c.3550C>A (p.Arg1184Ser)
n.103C>A
c.186-321C>A
19g.7560693C=CA2320979333PNPLA6c.3745C= (p.Arg1249=)
c.3631C= (p.Arg1211=)
c.3775C= (p.Arg1259=)
c.3550C= (p.Arg1184=)
n.103C=
c.186-321C=
19g.7560693C>GCA403137581PNPLA6c.3745C>G (p.Arg1249Gly)
c.3631C>G (p.Arg1211Gly)
c.3775C>G (p.Arg1259Gly)
c.3550C>G (p.Arg1184Gly)
n.103C>G
c.186-321C>G
19g.7560693C>TCA9140568PNPLA6c.3745C>T (p.Arg1249Cys)
c.3631C>T (p.Arg1211Cys)
c.3775C>T (p.Arg1259Cys)
c.3550C>T (p.Arg1184Cys)
n.103C>T
c.186-321C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7560694G>ACA9140569PNPLA6c.3746G>A (p.Arg1249His)
c.3632G>A (p.Arg1211His)
c.3776G>A (p.Arg1259His)
c.3551G>A (p.Arg1184His)
n.104G>A
c.186-320G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.7560694G>CCA403137589PNPLA6c.3746G>C (p.Arg1249Pro)
c.3632G>C (p.Arg1211Pro)
c.3776G>C (p.Arg1259Pro)
c.3551G>C (p.Arg1184Pro)
n.104G>C
c.186-320G>C
19g.7560694G=CA2320979334PNPLA6c.3746G= (p.Arg1249=)
c.3632G= (p.Arg1211=)
c.3776G= (p.Arg1259=)
c.3551G= (p.Arg1184=)
n.104G=
c.186-320G=
19g.7560694G>TCA403137591PNPLA6c.3746G>T (p.Arg1249Leu)
c.3632G>T (p.Arg1211Leu)
c.3776G>T (p.Arg1259Leu)
c.3551G>T (p.Arg1184Leu)
n.104G>T
c.186-320G>T
19g.7560695T>ACA505245132PNPLA6c.3747T>A (p.Arg1249=)
c.3633T>A (p.Arg1211=)
c.3777T>A (p.Arg1259=)
c.3552T>A (p.Arg1184=)
n.105T>A
c.186-319T>A
19g.7560695T>CCA505245134PNPLA6c.3747T>C (p.Arg1249=)
c.3633T>C (p.Arg1211=)
c.3777T>C (p.Arg1259=)
c.3552T>C (p.Arg1184=)
n.105T>C
c.186-319T>C
19g.7560695T>GCA505245135PNPLA6c.3747T>G (p.Arg1249=)
c.3633T>G (p.Arg1211=)
c.3777T>G (p.Arg1259=)
c.3552T>G (p.Arg1184=)
n.105T>G
c.186-319T>G
19g.7560696G>ACA403137593PNPLA6c.3748G>A (p.Gly1250Ser)
c.3634G>A (p.Gly1212Ser)
c.3778G>A (p.Gly1260Ser)
c.3553G>A (p.Gly1185Ser)
n.106G>A
c.186-318G>A
19g.7560696G>CCA403137596PNPLA6c.3748G>C (p.Gly1250Arg)
c.3634G>C (p.Gly1212Arg)
c.3778G>C (p.Gly1260Arg)
c.3553G>C (p.Gly1185Arg)
n.106G>C
c.186-318G>C
19g.7560696G>TCA403137598PNPLA6c.3748G>T (p.Gly1250Cys)
c.3634G>T (p.Gly1212Cys)
c.3778G>T (p.Gly1260Cys)
c.3553G>T (p.Gly1185Cys)
n.106G>T
c.186-318G>T
19g.7560697G>ACA403137602PNPLA6c.3749G>A (p.Gly1250Asp)
c.3635G>A (p.Gly1212Asp)
c.3779G>A (p.Gly1260Asp)
c.3554G>A (p.Gly1185Asp)
n.107G>A
c.186-317G>A
 gnomAD v4
19g.7560697G>CCA403137604PNPLA6c.3749G>C (p.Gly1250Ala)
c.3635G>C (p.Gly1212Ala)
c.3779G>C (p.Gly1260Ala)
c.3554G>C (p.Gly1185Ala)
n.107G>C
c.186-317G>C
19g.7560697G>TCA403137606PNPLA6c.3749G>T (p.Gly1250Val)
c.3635G>T (p.Gly1212Val)
c.3779G>T (p.Gly1260Val)
c.3554G>T (p.Gly1185Val)
n.107G>T
c.186-317G>T
19g.7560698C>ACA505245145PNPLA6c.3750C>A (p.Gly1250=)
c.3636C>A (p.Gly1212=)
c.3780C>A (p.Gly1260=)
c.3555C>A (p.Gly1185=)
n.108C>A
c.186-316C>A
 dbSNP
19g.7560698C=CA2320979335PNPLA6c.3750C= (p.Gly1250=)
c.3636C= (p.Gly1212=)
c.3780C= (p.Gly1260=)
c.3555C= (p.Gly1185=)
n.108C=
c.186-316C=
19g.7560698C>GCA505245146PNPLA6c.3750C>G (p.Gly1250=)
c.3636C>G (p.Gly1212=)
c.3780C>G (p.Gly1260=)
c.3555C>G (p.Gly1185=)
n.108C>G
c.186-316C>G
19g.7560698C>TCA505245148PNPLA6c.3750C>T (p.Gly1250=)
c.3636C>T (p.Gly1212=)
c.3780C>T (p.Gly1260=)
c.3555C>T (p.Gly1185=)
n.108C>T
c.186-316C>T
 dbSNP gnomAD v2 gnomAD v4
19g.7560699A>CCA403137614PNPLA6c.3751A>C (p.Asn1251His)
c.3637A>C (p.Asn1213His)
c.3781A>C (p.Asn1261His)
c.3556A>C (p.Asn1186His)
n.109A>C
c.186-315A>C
19g.7560699A>GCA403137612PNPLA6c.3751A>G (p.Asn1251Asp)
c.3637A>G (p.Asn1213Asp)
c.3781A>G (p.Asn1261Asp)
c.3556A>G (p.Asn1186Asp)
n.109A>G
c.186-315A>G
19g.7560699A>TCA403137610PNPLA6c.3751A>T (p.Asn1251Tyr)
c.3637A>T (p.Asn1213Tyr)
c.3781A>T (p.Asn1261Tyr)
c.3556A>T (p.Asn1186Tyr)
n.109A>T
c.186-315A>T
19g.7560700A>CCA403137616PNPLA6c.3752A>C (p.Asn1251Thr)
c.3638A>C (p.Asn1213Thr)
c.3782A>C (p.Asn1261Thr)
c.3557A>C (p.Asn1186Thr)
n.110A>C
c.186-314A>C
19g.7560700A>GCA403137617PNPLA6c.3752A>G (p.Asn1251Ser)
c.3638A>G (p.Asn1213Ser)
c.3782A>G (p.Asn1261Ser)
c.3557A>G (p.Asn1186Ser)
n.110A>G
c.186-314A>G
19g.7560700A>TCA403137620PNPLA6c.3752A>T (p.Asn1251Ile)
c.3638A>T (p.Asn1213Ile)
c.3782A>T (p.Asn1261Ile)
c.3557A>T (p.Asn1186Ile)
n.110A>T
c.186-314A>T
19g.7560701C>ACA403137623PNPLA6c.3753C>A (p.Asn1251Lys)
c.3639C>A (p.Asn1213Lys)
c.3783C>A (p.Asn1261Lys)
c.3558C>A (p.Asn1186Lys)
n.111C>A
c.186-313C>A
19g.7560701C=CA2320979336PNPLA6c.3753C= (p.Asn1251=)
c.3639C= (p.Asn1213=)
c.3783C= (p.Asn1261=)
c.3558C= (p.Asn1186=)
n.111C=
c.186-313C=
19g.7560701C>GCA403137626PNPLA6c.3753C>G (p.Asn1251Lys)
c.3639C>G (p.Asn1213Lys)
c.3783C>G (p.Asn1261Lys)
c.3558C>G (p.Asn1186Lys)
n.111C>G
c.186-313C>G
19g.7560701C>TCA9140570PNPLA6c.3753C>T (p.Asn1251=)
c.3639C>T (p.Asn1213=)
c.3783C>T (p.Asn1261=)
c.3558C>T (p.Asn1186=)
n.111C>T
c.186-313C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7560702G>ACA9140571PNPLA6c.3754G>A (p.Val1252Ile)
c.3640G>A (p.Val1214Ile)
c.3784G>A (p.Val1262Ile)
c.3559G>A (p.Val1187Ile)
n.112G>A
c.186-312G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.7560702G>CCA403137632PNPLA6c.3754G>C (p.Val1252Leu)
c.3640G>C (p.Val1214Leu)
c.3784G>C (p.Val1262Leu)
c.3559G>C (p.Val1187Leu)
n.112G>C
c.186-312G>C
19g.7560702G=CA2320979337PNPLA6c.3754G= (p.Val1252=)
c.3640G= (p.Val1214=)
c.3784G= (p.Val1262=)
c.3559G= (p.Val1187=)
n.112G=
c.186-312G=
19g.7560702G>TCA403137635PNPLA6c.3754G>T (p.Val1252Phe)
c.3640G>T (p.Val1214Phe)
c.3784G>T (p.Val1262Phe)
c.3559G>T (p.Val1187Phe)
n.112G>T
c.186-312G>T
19g.7560703T>ACA403137638PNPLA6c.3755T>A (p.Val1252Asp)
c.3641T>A (p.Val1214Asp)
c.3785T>A (p.Val1262Asp)
c.3560T>A (p.Val1187Asp)
n.113T>A
c.186-311T>A
19g.7560703T>CCA403137639PNPLA6c.3755T>C (p.Val1252Ala)
c.3641T>C (p.Val1214Ala)
c.3785T>C (p.Val1262Ala)
c.3560T>C (p.Val1187Ala)
n.113T>C
c.186-311T>C
19g.7560703T>GCA403137641PNPLA6c.3755T>G (p.Val1252Gly)
c.3641T>G (p.Val1214Gly)
c.3785T>G (p.Val1262Gly)
c.3560T>G (p.Val1187Gly)
n.113T>G
c.186-311T>G
19g.7560704C>ACA505245171PNPLA6c.3756C>A (p.Val1252=)
c.3642C>A (p.Val1214=)
c.3786C>A (p.Val1262=)
c.3561C>A (p.Val1187=)
n.114C>A
c.186-310C>A
19g.7560704C>GCA505245169PNPLA6c.3756C>G (p.Val1252=)
c.3642C>G (p.Val1214=)
c.3786C>G (p.Val1262=)
c.3561C>G (p.Val1187=)
n.114C>G
c.186-310C>G
19g.7560704C>TCA505245167PNPLA6c.3756C>T (p.Val1252=)
c.3642C>T (p.Val1214=)
c.3786C>T (p.Val1262=)
c.3561C>T (p.Val1187=)
n.114C>T
c.186-310C>T
 gnomAD v4
19g.7560705A>CCA403137650PNPLA6c.3757A>C (p.Ile1253Leu)
c.3643A>C (p.Ile1215Leu)
c.3787A>C (p.Ile1263Leu)
c.3562A>C (p.Ile1188Leu)
n.115A>C
c.186-309A>C
19g.7560705A>GCA403137647PNPLA6c.3757A>G (p.Ile1253Val)
c.3643A>G (p.Ile1215Val)
c.3787A>G (p.Ile1263Val)
c.3562A>G (p.Ile1188Val)
n.115A>G
c.186-309A>G
19g.7560705A>TCA403137644PNPLA6c.3757A>T (p.Ile1253Phe)
c.3643A>T (p.Ile1215Phe)
c.3787A>T (p.Ile1263Phe)
c.3562A>T (p.Ile1188Phe)
n.115A>T
c.186-309A>T
19g.7560706T>ACA403137653PNPLA6c.3758T>A (p.Ile1253Asn)
c.3644T>A (p.Ile1215Asn)
c.3788T>A (p.Ile1263Asn)
c.3563T>A (p.Ile1188Asn)
n.116T>A
c.186-308T>A
19g.7560706T>CCA403137655PNPLA6c.3758T>C (p.Ile1253Thr)
c.3644T>C (p.Ile1215Thr)
c.3788T>C (p.Ile1263Thr)
c.3563T>C (p.Ile1188Thr)
n.116T>C
c.186-308T>C
19g.7560706T>GCA403137658PNPLA6c.3758T>G (p.Ile1253Ser)
c.3644T>G (p.Ile1215Ser)
c.3788T>G (p.Ile1263Ser)
c.3563T>G (p.Ile1188Ser)
n.116T>G
c.186-308T>G
19g.7560707T>ACA505245180PNPLA6c.3759T>A (p.Ile1253=)
c.3645T>A (p.Ile1215=)
c.3789T>A (p.Ile1263=)
c.3564T>A (p.Ile1188=)
n.117T>A
c.186-307T>A
19g.7560707T>CCA505245182PNPLA6c.3759T>C (p.Ile1253=)
c.3645T>C (p.Ile1215=)
c.3789T>C (p.Ile1263=)
c.3564T>C (p.Ile1188=)
n.117T>C
c.186-307T>C
19g.7560707T>GCA403137660PNPLA6c.3759T>G (p.Ile1253Met)
c.3645T>G (p.Ile1215Met)
c.3789T>G (p.Ile1263Met)
c.3564T>G (p.Ile1188Met)
n.117T>G
c.186-307T>G
 gnomAD v4
19g.7560708G>ACA403137663PNPLA6c.3760G>A (p.Glu1254Lys)
c.3646G>A (p.Glu1216Lys)
c.3790G>A (p.Glu1264Lys)
c.3565G>A (p.Glu1189Lys)
n.118G>A
c.186-306G>A
19g.7560708G>CCA403137666PNPLA6c.3760G>C (p.Glu1254Gln)
c.3646G>C (p.Glu1216Gln)
c.3790G>C (p.Glu1264Gln)
c.3565G>C (p.Glu1189Gln)
n.118G>C
c.186-306G>C
19g.7560708G>TCA403137668PNPLA6c.3760G>T (p.Glu1254Ter)
c.3646G>T (p.Glu1216Ter)
c.3790G>T (p.Glu1264Ter)
c.3565G>T (p.Glu1189Ter)
n.118G>T
c.186-306G>T
19g.7560709A>CCA403137672PNPLA6c.3761A>C (p.Glu1254Ala)
c.3647A>C (p.Glu1216Ala)
c.3791A>C (p.Glu1264Ala)
c.3566A>C (p.Glu1189Ala)
n.119A>C
c.186-305A>C
19g.7560709A>GCA403137675PNPLA6c.3761A>G (p.Glu1254Gly)
c.3647A>G (p.Glu1216Gly)
c.3791A>G (p.Glu1264Gly)
c.3566A>G (p.Glu1189Gly)
n.119A>G
c.186-305A>G
19g.7560709A>TCA403137678PNPLA6c.3761A>T (p.Glu1254Val)
c.3647A>T (p.Glu1216Val)
c.3791A>T (p.Glu1264Val)
c.3566A>T (p.Glu1189Val)
n.119A>T
c.186-305A>T

Number of alleles fetched