Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.7560612G>A | CA9140549 | PNPLA6 | c.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 |
19 | g.7560612G= | CA2320979293 | PNPLA6 | c.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= | |
19 | g.7560612G>T | CA9140550 | PNPLA6 | c.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 |
19 | g.7560615G>A | CA9140551 | PNPLA6 | c.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 |
19 | g.7560615G= | CA2320979294 | PNPLA6 | c.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= | |
19 | g.7560615G>T | CA2587958163 | PNPLA6 | c.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 |
19 | g.7560616C>A | CA2576598064 | PNPLA6 | c.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 |
19 | g.7560616C= | CA2320979295 | PNPLA6 | c.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= | |
19 | g.7560616C>T | CA631325721 | PNPLA6 | c.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 |
19 | g.7560617A>T | CA2576598065 | PNPLA6 | c.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 | |
19 | g.7560618G>T | CA2587958164 | PNPLA6 | c.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 |
19 | g.7560620C>A | CA2587958165 | PNPLA6 | c.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 |
19 | g.7560620C>T | CA2576598066 | PNPLA6 | c.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 | |
19 | g.7560621A= | CA2320979296 | PNPLA6 | c.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= | |
19 | g.7560621A>G | CA9140552 | PNPLA6 | c.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 |
19 | g.7560622T>C | CA9140553 | PNPLA6 | c.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 |
19 | g.7560622T= | CA2320979297 | PNPLA6 | c.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= | |
19 | g.7560625A= | CA2320979298 | PNPLA6 | c.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= | |
19 | g.7560625A>C | CA2320979299 | PNPLA6 | c.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 |
19 | g.7560625A>G | CA2813477404 | PNPLA6 | c.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 | |
19 | g.7560626C>A | CA2576598067 | PNPLA6 | c.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 |
19 | g.7560626C= | CA2320979300 | PNPLA6 | c.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= | |
19 | g.7560626C>T | CA9140554 | PNPLA6 | c.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 |
19 | g.7560628del | CA2587958166 | PNPLA6 | c.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 |
19 | g.7560627C>A | CA2587958167 | PNPLA6 | c.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 |
19 | g.7560627C= | CA2320979301 | PNPLA6 | c.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= | |
19 | g.7560627C>T | CA9140555 | PNPLA6 | c.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 |
19 | g.7560628C>A | CA2587958168 | PNPLA6 | c.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 |
19 | g.7560628C>T | CA2587958169 | PNPLA6 | c.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 |
19 | g.7560630G>A | CA2576598068 | PNPLA6 | c.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 |
19 | g.7560631C>A | CA2587958170 | PNPLA6 | c.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 |
19 | g.7560631C>T | CA2587958171 | PNPLA6 | c.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 |
19 | g.7560632C>A | CA2587958172 | PNPLA6 | c.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 |
19 | g.7560633C>T | CA2576598069 | PNPLA6 | c.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 |
19 | g.7560634C>A | CA2587958173 | PNPLA6 | c.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 |
19 | g.7560634C= | CA2320979302 | PNPLA6 | c.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= | |
19 | g.7560634C>G | CA2576598070 | PNPLA6 | c.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 |
19 | g.7560634C>T | CA884242203 | PNPLA6 | c.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 |
19 | g.7560635T>A | CA2587958174 | PNPLA6 | c.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 |
19 | g.7560635T>C | CA2587958175 | PNPLA6 | c.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 |
19 | g.7560636C>A | CA2587958176 | PNPLA6 | c.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 |
19 | g.7560636C= | CA2320979303 | PNPLA6 | c.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= | |
19 | g.7560636C>G | CA2587958177 | PNPLA6 | c.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 |
19 | g.7560636C>T | CA2320979304 | PNPLA6 | c.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 |
19 | g.7560637A>G | CA2587958178 | PNPLA6 | c.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 |
19 | g.7560639T>G | CA304882891 | PNPLA6 | c.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 |
19 | g.7560639T= | CA2320979305 | PNPLA6 | c.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= | |
19 | g.7560641C>A | CA2576598071 | PNPLA6 | c.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 |
19 | g.7560641C= | CA2320979306 | PNPLA6 | c.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= | |
19 | g.7560641C>T | CA631325731 | PNPLA6 | c.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 |
19 | g.7560642C>A | CA2576598072 | PNPLA6 | c.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 | |
19 | g.7560642C= | CA2320979307 | PNPLA6 | c.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= | |
19 | g.7560642C>G | CA631325733 | PNPLA6 | c.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 |
19 | g.7560643C>A | CA2587958180 | PNPLA6 | c.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 |
19 | g.7560643C>T | CA2587958179 | PNPLA6 | c.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 |
19 | g.7560645C>A | CA2587958181 | PNPLA6 | c.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 |
19 | g.7560645C= | CA2320979308 | PNPLA6 | c.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= | |
19 | g.7560645C>G | CA304882894 | PNPLA6 | c.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 |
19 | g.7560645C>T | CA2320979309 | PNPLA6 | c.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 |
19 | g.7560646A>C | CA403137289 | PNPLA6 | c.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 | |
19 | g.7560646A>G | CA403137286 | PNPLA6 | c.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 | |
19 | g.7560646A>T | CA403137288 | PNPLA6 | c.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 | |
19 | g.7560647G>A | CA403137291 | PNPLA6 | c.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 | |
19 | g.7560647G>C | CA403137292 | PNPLA6 | c.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 | |
19 | g.7560647G>T | CA403137294 | PNPLA6 | c.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 | |
19 | g.7560648del | CA2587958182 | PNPLA6 | c.3700del c.3586del c.3730del c.3505del n.58del c.186-366del | gnomAD v4 |
19 | g.7560648G>A | CA403137296 | PNPLA6 | c.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 | |
19 | g.7560648G>C | CA403137300 | PNPLA6 | c.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 | |
19 | g.7560648G>T | CA403137303 | PNPLA6 | c.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 |
19 | g.7560649A= | CA2320979310 | PNPLA6 | c.3701A= (p.Asp1234=) c.3587A= (p.Asp1196=) c.3731A= (p.Asp1244=) c.3506A= (p.Asp1169=) n.59A= c.186-365A= | |
19 | g.7560649A>C | CA403137306 | PNPLA6 | c.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 | |
19 | g.7560649A>G | CA403137309 | PNPLA6 | c.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 | |
19 | g.7560649A>T | CA9140556 | PNPLA6 | c.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 |
19 | g.7560650T>A | CA403137313 | PNPLA6 | c.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 | |
19 | g.7560650T>C | CA505245098 | PNPLA6 | c.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 | |
19 | g.7560650T>G | CA403137315 | PNPLA6 | c.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 | |
19 | g.7560651G>A | CA9140557 | PNPLA6 | c.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 |
19 | g.7560651G>C | CA403137318 | PNPLA6 | c.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 | |
19 | g.7560651G= | CA2320979311 | PNPLA6 | c.3703G= (p.Val1235=) c.3589G= (p.Val1197=) c.3733G= (p.Val1245=) c.3508G= (p.Val1170=) n.61G= c.186-363G= | |
19 | g.7560651G>T | CA403137323 | PNPLA6 | c.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 | |
19 | g.7560652T>A | CA403137325 | PNPLA6 | c.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 | |
19 | g.7560652T>C | CA403137326 | PNPLA6 | c.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 | |
19 | g.7560652T>G | CA403137327 | PNPLA6 | c.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 | |
19 | g.7560653G>A | CA505245099 | PNPLA6 | c.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 | |
19 | g.7560653G>C | CA505245100 | PNPLA6 | c.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 | |
19 | g.7560653G>T | CA505245101 | PNPLA6 | c.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 | |
19 | g.7560654G>A | CA403137330 | PNPLA6 | c.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 | |
19 | g.7560654G>C | CA403137332 | PNPLA6 | c.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 | |
19 | g.7560654G>T | CA403137336 | PNPLA6 | c.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 |
19 | g.7560655G>A | CA403137339 | PNPLA6 | c.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 | |
19 | g.7560655G>C | CA403137340 | PNPLA6 | c.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 | |
19 | g.7560655G>T | CA403137341 | PNPLA6 | c.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 | |
19 | g.7560656C>A | CA505245102 | PNPLA6 | c.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 |
19 | g.7560656C= | CA2320979312 | PNPLA6 | c.3708C= (p.Gly1236=) c.3594C= (p.Gly1198=) c.3738C= (p.Gly1246=) c.3513C= (p.Gly1171=) n.66C= c.186-358C= | |
19 | g.7560656C>G | CA505245103 | PNPLA6 | c.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 |
19 | g.7560656C>T | CA505245104 | PNPLA6 | c.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 | |
19 | g.7560657T>A | CA403137344 | PNPLA6 | c.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 | |
19 | g.7560657T>C | CA403137347 | PNPLA6 | c.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 |
19 | g.7560657T>G | CA403137348 | PNPLA6 | c.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 | |
19 | g.7560657dup | CA2587958183 | PNPLA6 | c.3709dup (p.Tyr1237LeufsTer18) c.3595dup (p.Tyr1199LeufsTer18) c.3739dup (p.Tyr1247LeufsTer18) c.3514dup (p.Tyr1172LeufsTer18) n.67dup c.186-357dup | gnomAD v4 |
19 | g.7560658A>C | CA403137354 | PNPLA6 | c.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 | |
19 | g.7560658A>G | CA403137357 | PNPLA6 | c.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 | |
19 | g.7560658A>T | CA403137351 | PNPLA6 | c.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 | |
19 | g.7560659C>A | CA403137362 | PNPLA6 | c.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 |
19 | g.7560659C= | CA2320979313 | PNPLA6 | c.3711C= (p.Tyr1237=) c.3597C= (p.Tyr1199=) c.3741C= (p.Tyr1247=) c.3516C= (p.Tyr1172=) n.69C= c.186-355C= | |
19 | g.7560659C>G | CA403137359 | PNPLA6 | c.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 | |
19 | g.7560659C>T | CA505245105 | PNPLA6 | c.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 |
19 | g.7560660C>A | CA9140559 | PNPLA6 | c.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 |
19 | g.7560660C= | CA2320979314 | PNPLA6 | c.3712C= (p.Gln1238=) c.3598C= (p.Gln1200=) c.3742C= (p.Gln1248=) c.3517C= (p.Gln1173=) n.70C= c.186-354C= | |
19 | g.7560660C>G | CA9140558 | PNPLA6 | c.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 |
19 | g.7560660C>T | CA403137365 | PNPLA6 | c.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 | |
19 | g.7560661A>C | CA403137371 | PNPLA6 | c.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 | |
19 | g.7560661A>G | CA403137373 | PNPLA6 | c.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 |
19 | g.7560661A>T | CA403137375 | PNPLA6 | c.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 | |
19 | g.7560662G>A | CA505245106 | PNPLA6 | c.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 |
19 | g.7560662G>C | CA403137378 | PNPLA6 | c.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 | |
19 | g.7560662G>T | CA403137381 | PNPLA6 | c.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 |
19 | g.7560663T>A | CA403137383 | PNPLA6 | c.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 | |
19 | g.7560663T>C | CA403137386 | PNPLA6 | c.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 | |
19 | g.7560663T>G | CA403137388 | PNPLA6 | c.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 | |
19 | g.7560664A>C | CA403137391 | PNPLA6 | c.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 | |
19 | g.7560664A>G | CA403137393 | PNPLA6 | c.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 | |
19 | g.7560664A>T | CA403137397 | PNPLA6 | c.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 | |
19 | g.7560665C>A | CA403137402 | PNPLA6 | c.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 | |
19 | g.7560665C= | CA2320979315 | PNPLA6 | c.3717C= (p.Tyr1239=) c.3603C= (p.Tyr1201=) c.3747C= (p.Tyr1249=) c.3522C= (p.Tyr1174=) n.75C= c.186-349C= | |
19 | g.7560665C>G | CA403137398 | PNPLA6 | c.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 | |
19 | g.7560665C>T | CA9140560 | PNPLA6 | c.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 |
19 | g.7560665_7560666delinsCG | CA2320979316 | PNPLA6 | c.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 | |
19 | g.7560666G>A | CA9140561 | PNPLA6 | c.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 |
19 | g.7560666G>C | CA403137406 | PNPLA6 | c.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 | |
19 | g.7560666G= | CA2320979318 | PNPLA6 | c.3718G= (p.Gly1240=) c.3604G= (p.Gly1202=) c.3748G= (p.Gly1250=) c.3523G= (p.Gly1175=) n.76G= c.186-348G= | |
19 | g.7560666G>T | CA403137408 | PNPLA6 | c.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 | |
19 | g.7560668del | CA2320979317 | PNPLA6 | c.3720del (p.Lys1241ArgfsTer?) c.3606del (p.Lys1203ArgfsTer?) c.3750del (p.Lys1251ArgfsTer?) c.3525del (p.Lys1176ArgfsTer?) n.78del c.186-346del | dbSNP gnomAD v4 |
19 | g.7560667G>A | CA403137412 | PNPLA6 | c.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 | |
19 | g.7560667G>C | CA403137418 | PNPLA6 | c.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 |
19 | g.7560667G= | CA2320979319 | PNPLA6 | c.3719G= (p.Gly1240=) c.3605G= (p.Gly1202=) c.3749G= (p.Gly1250=) c.3524G= (p.Gly1175=) n.77G= c.186-347G= | |
19 | g.7560667G>T | CA403137420 | PNPLA6 | c.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 | |
19 | g.7560668G>A | CA505245109 | PNPLA6 | c.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 |
19 | g.7560668G>C | CA505245108 | PNPLA6 | c.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 | |
19 | g.7560668G= | CA2320979320 | PNPLA6 | c.3720G= (p.Gly1240=) c.3606G= (p.Gly1202=) c.3750G= (p.Gly1250=) c.3525G= (p.Gly1175=) n.78G= c.186-346G= | |
19 | g.7560668G>T | CA505245107 | PNPLA6 | c.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 |
19 | g.7560669A>C | CA403137423 | PNPLA6 | c.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 |
19 | g.7560669A>G | CA403137426 | PNPLA6 | c.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 | |
19 | g.7560669A>T | CA403137428 | PNPLA6 | c.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 | |
19 | g.7560670A= | CA2320979321 | PNPLA6 | c.3722A= (p.Lys1241=) c.3608A= (p.Lys1203=) c.3752A= (p.Lys1251=) c.3527A= (p.Lys1176=) n.80A= c.186-344A= | |
19 | g.7560670A>C | CA403137431 | PNPLA6 | c.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 | |
19 | g.7560670A>G | CA403137433 | PNPLA6 | c.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 |
19 | g.7560670A>T | CA403137435 | PNPLA6 | c.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 | |
19 | g.7560671G>A | CA505245111 | PNPLA6 | c.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 |
19 | g.7560671G>C | CA403137441 | PNPLA6 | c.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 |
19 | g.7560671G= | CA2320979322 | PNPLA6 | c.3723G= (p.Lys1241=) c.3609G= (p.Lys1203=) c.3753G= (p.Lys1251=) c.3528G= (p.Lys1176=) n.81G= c.186-343G= | |
19 | g.7560671G>T | CA403137438 | PNPLA6 | c.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 | |
19 | g.7560672G>A | CA9140562 | PNPLA6 | c.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 |
19 | g.7560672G>C | CA403137444 | PNPLA6 | c.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 | |
19 | g.7560672G= | CA2320979323 | PNPLA6 | c.3724G= (p.Ala1242=) c.3610G= (p.Ala1204=) c.3754G= (p.Ala1252=) c.3529G= (p.Ala1177=) n.82G= c.186-342G= | |
19 | g.7560672G>T | CA403137446 | PNPLA6 | c.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 | |
19 | g.7560673C>A | CA403137448 | PNPLA6 | c.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 |
19 | g.7560673C= | CA2320979324 | PNPLA6 | c.3725C= (p.Ala1242=) c.3611C= (p.Ala1204=) c.3755C= (p.Ala1252=) c.3530C= (p.Ala1177=) n.83C= c.186-341C= | |
19 | g.7560673C>G | CA403137450 | PNPLA6 | c.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 | |
19 | g.7560673C>T | CA9140563 | PNPLA6 | c.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 |
19 | g.7560674G>A | CA9140564 | PNPLA6 | c.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 |
19 | g.7560674G>C | CA505245112 | PNPLA6 | c.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 | |
19 | g.7560674G= | CA2320979325 | PNPLA6 | c.3726G= (p.Ala1242=) c.3612G= (p.Ala1204=) c.3756G= (p.Ala1252=) c.3531G= (p.Ala1177=) n.84G= c.186-340G= | |
19 | g.7560674G>T | CA505245113 | PNPLA6 | c.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 |
19 | g.7560675G>A | CA403137456 | PNPLA6 | c.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 | |
19 | g.7560675G>C | CA9140565 | PNPLA6 | c.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 |
19 | g.7560675G= | CA2320979326 | PNPLA6 | c.3727G= (p.Val1243=) c.3613G= (p.Val1205=) c.3757G= (p.Val1253=) c.3532G= (p.Val1178=) n.85G= c.186-339G= | |
19 | g.7560675G>T | CA403137460 | PNPLA6 | c.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 |
19 | g.7560676T>A | CA403137463 | PNPLA6 | c.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 | |
19 | g.7560676T>C | CA9140566 | PNPLA6 | c.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 |
19 | g.7560676T>G | CA403137467 | PNPLA6 | c.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 | |
19 | g.7560676T= | CA2320979327 | PNPLA6 | c.3728T= (p.Val1243=) c.3614T= (p.Val1205=) c.3758T= (p.Val1253=) c.3533T= (p.Val1178=) n.86T= c.186-338T= | |
19 | g.7560677G>A | CA505245114 | PNPLA6 | c.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 | |
19 | g.7560677G>C | CA505245115 | PNPLA6 | c.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 | |
19 | g.7560677G>T | CA505245116 | PNPLA6 | c.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 | |
19 | g.7560678T>A | CA403137475 | PNPLA6 | c.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 | |
19 | g.7560678T>C | CA403137472 | PNPLA6 | c.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 | |
19 | g.7560678T>G | CA403137471 | PNPLA6 | c.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 | |
19 | g.7560679T>A | CA403137478 | PNPLA6 | c.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 | |
19 | g.7560679T>C | CA403137480 | PNPLA6 | c.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 | |
19 | g.7560679T>G | CA403137482 | PNPLA6 | c.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 | |
19 | g.7560680T>A | CA403137486 | PNPLA6 | c.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 | |
19 | g.7560680T>C | CA304882912 | PNPLA6 | c.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 |
19 | g.7560680T>G | CA403137489 | PNPLA6 | c.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 |
19 | g.7560680T= | CA2320979328 | PNPLA6 | c.3732T= (p.Phe1244=) c.3618T= (p.Phe1206=) c.3762T= (p.Phe1254=) c.3537T= (p.Phe1179=) n.90T= c.186-334T= | |
19 | g.7560681G>A | CA403137493 | PNPLA6 | c.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 | |
19 | g.7560681G>C | CA403137495 | PNPLA6 | c.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 |
19 | g.7560681G= | CA2320979329 | PNPLA6 | c.3733G= (p.Gly1245=) c.3619G= (p.Gly1207=) c.3763G= (p.Gly1255=) c.3538G= (p.Gly1180=) n.91G= c.186-333G= | |
19 | g.7560681G>T | CA403137498 | PNPLA6 | c.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 | |
19 | g.7560682G>A | CA403137501 | PNPLA6 | c.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 |
19 | g.7560682G>C | CA403137504 | PNPLA6 | c.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 | |
19 | g.7560682G>T | CA403137506 | PNPLA6 | c.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 | |
19 | g.7560683A>C | CA505245117 | PNPLA6 | c.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 | |
19 | g.7560683A>G | CA505245118 | PNPLA6 | c.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 | |
19 | g.7560683A>T | CA505245119 | PNPLA6 | c.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 | |
19 | g.7560684G>A | CA403137510 | PNPLA6 | c.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 | |
19 | g.7560684G>C | CA403137512 | PNPLA6 | c.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 | |
19 | g.7560684G>T | CA403137515 | PNPLA6 | c.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 | |
19 | g.7560685G>A | CA403137522 | PNPLA6 | c.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 |
19 | g.7560685G>C | CA403137525 | PNPLA6 | c.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 | |
19 | g.7560685G>T | CA403137519 | PNPLA6 | c.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 | |
19 | g.7560686C>A | CA505245120 | PNPLA6 | c.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 |
19 | g.7560686C>G | CA505245123 | PNPLA6 | c.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 | |
19 | g.7560686C>T | CA505245121 | PNPLA6 | c.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 | |
19 | g.7560687T>A | CA403137529 | PNPLA6 | c.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 | |
19 | g.7560687T>C | CA9140567 | PNPLA6 | c.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 |
19 | g.7560687T>G | CA403137532 | PNPLA6 | c.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 | |
19 | g.7560687T= | CA2320979330 | PNPLA6 | c.3739T= (p.Trp1247=) c.3625T= (p.Trp1209=) c.3769T= (p.Trp1257=) c.3544T= (p.Trp1182=) n.97T= c.186-327T= | |
19 | g.7560688G>A | CA403137542 | PNPLA6 | c.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 | |
19 | g.7560688G>C | CA403137544 | PNPLA6 | c.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 | |
19 | g.7560688G>T | CA403137548 | PNPLA6 | c.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 | |
19 | g.7560689G>A | CA403137551 | PNPLA6 | c.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 | |
19 | g.7560689G>C | CA403137554 | PNPLA6 | c.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 | |
19 | g.7560689G>T | CA403137557 | PNPLA6 | c.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 | |
19 | g.7560690A= | CA2320979331 | PNPLA6 | c.3742A= (p.Ser1248=) c.3628A= (p.Ser1210=) c.3772A= (p.Ser1258=) c.3547A= (p.Ser1183=) n.100A= c.186-324A= | |
19 | g.7560690A>C | CA403137560 | PNPLA6 | c.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 | |
19 | g.7560690A>G | CA403137563 | PNPLA6 | c.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 |
19 | g.7560690A>T | CA403137565 | PNPLA6 | c.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 | |
19 | g.7560691G>A | CA403137568 | PNPLA6 | c.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 | |
19 | g.7560691G>C | CA403137571 | PNPLA6 | c.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 | |
19 | g.7560691G>T | CA403137573 | PNPLA6 | c.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 | |
19 | g.7560692C>A | CA403137577 | PNPLA6 | c.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 | |
19 | g.7560692C= | CA2320979332 | PNPLA6 | c.3744C= (p.Ser1248=) c.3630C= (p.Ser1210=) c.3774C= (p.Ser1258=) c.3549C= (p.Ser1183=) n.102C= c.186-322C= | |
19 | g.7560692C>G | CA403137575 | PNPLA6 | c.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 |
19 | g.7560692C>T | CA304882915 | PNPLA6 | c.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 |
19 | g.7560693C>A | CA403137580 | PNPLA6 | c.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 | |
19 | g.7560693C= | CA2320979333 | PNPLA6 | c.3745C= (p.Arg1249=) c.3631C= (p.Arg1211=) c.3775C= (p.Arg1259=) c.3550C= (p.Arg1184=) n.103C= c.186-321C= | |
19 | g.7560693C>G | CA403137581 | PNPLA6 | c.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 | |
19 | g.7560693C>T | CA9140568 | PNPLA6 | c.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 |
19 | g.7560694G>A | CA9140569 | PNPLA6 | c.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 |
19 | g.7560694G>C | CA403137589 | PNPLA6 | c.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 | |
19 | g.7560694G= | CA2320979334 | PNPLA6 | c.3746G= (p.Arg1249=) c.3632G= (p.Arg1211=) c.3776G= (p.Arg1259=) c.3551G= (p.Arg1184=) n.104G= c.186-320G= | |
19 | g.7560694G>T | CA403137591 | PNPLA6 | c.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 | |
19 | g.7560695T>A | CA505245132 | PNPLA6 | c.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 | |
19 | g.7560695T>C | CA505245134 | PNPLA6 | c.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 | |
19 | g.7560695T>G | CA505245135 | PNPLA6 | c.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 | |
19 | g.7560696G>A | CA403137593 | PNPLA6 | c.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 | |
19 | g.7560696G>C | CA403137596 | PNPLA6 | c.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 | |
19 | g.7560696G>T | CA403137598 | PNPLA6 | c.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 | |
19 | g.7560697G>A | CA403137602 | PNPLA6 | c.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 |
19 | g.7560697G>C | CA403137604 | PNPLA6 | c.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 | |
19 | g.7560697G>T | CA403137606 | PNPLA6 | c.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 | |
19 | g.7560698C>A | CA505245145 | PNPLA6 | c.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 |
19 | g.7560698C= | CA2320979335 | PNPLA6 | c.3750C= (p.Gly1250=) c.3636C= (p.Gly1212=) c.3780C= (p.Gly1260=) c.3555C= (p.Gly1185=) n.108C= c.186-316C= | |
19 | g.7560698C>G | CA505245146 | PNPLA6 | c.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 | |
19 | g.7560698C>T | CA505245148 | PNPLA6 | c.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 |
19 | g.7560699A>C | CA403137614 | PNPLA6 | c.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 | |
19 | g.7560699A>G | CA403137612 | PNPLA6 | c.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 | |
19 | g.7560699A>T | CA403137610 | PNPLA6 | c.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 | |
19 | g.7560700A>C | CA403137616 | PNPLA6 | c.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 | |
19 | g.7560700A>G | CA403137617 | PNPLA6 | c.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 | |
19 | g.7560700A>T | CA403137620 | PNPLA6 | c.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 | |
19 | g.7560701C>A | CA403137623 | PNPLA6 | c.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 | |
19 | g.7560701C= | CA2320979336 | PNPLA6 | c.3753C= (p.Asn1251=) c.3639C= (p.Asn1213=) c.3783C= (p.Asn1261=) c.3558C= (p.Asn1186=) n.111C= c.186-313C= | |
19 | g.7560701C>G | CA403137626 | PNPLA6 | c.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 | |
19 | g.7560701C>T | CA9140570 | PNPLA6 | c.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 |
19 | g.7560702G>A | CA9140571 | PNPLA6 | c.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 |
19 | g.7560702G>C | CA403137632 | PNPLA6 | c.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 | |
19 | g.7560702G= | CA2320979337 | PNPLA6 | c.3754G= (p.Val1252=) c.3640G= (p.Val1214=) c.3784G= (p.Val1262=) c.3559G= (p.Val1187=) n.112G= c.186-312G= | |
19 | g.7560702G>T | CA403137635 | PNPLA6 | c.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 | |
19 | g.7560703T>A | CA403137638 | PNPLA6 | c.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 | |
19 | g.7560703T>C | CA403137639 | PNPLA6 | c.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 | |
19 | g.7560703T>G | CA403137641 | PNPLA6 | c.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 | |
19 | g.7560704C>A | CA505245171 | PNPLA6 | c.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 | |
19 | g.7560704C>G | CA505245169 | PNPLA6 | c.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 | |
19 | g.7560704C>T | CA505245167 | PNPLA6 | c.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 |
19 | g.7560705A>C | CA403137650 | PNPLA6 | c.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 | |
19 | g.7560705A>G | CA403137647 | PNPLA6 | c.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 | |
19 | g.7560705A>T | CA403137644 | PNPLA6 | c.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 | |
19 | g.7560706T>A | CA403137653 | PNPLA6 | c.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 | |
19 | g.7560706T>C | CA403137655 | PNPLA6 | c.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 | |
19 | g.7560706T>G | CA403137658 | PNPLA6 | c.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 | |
19 | g.7560707T>A | CA505245180 | PNPLA6 | c.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 | |
19 | g.7560707T>C | CA505245182 | PNPLA6 | c.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 | |
19 | g.7560707T>G | CA403137660 | PNPLA6 | c.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 |
19 | g.7560708G>A | CA403137663 | PNPLA6 | c.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 | |
19 | g.7560708G>C | CA403137666 | PNPLA6 | c.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 | |
19 | g.7560708G>T | CA403137668 | PNPLA6 | c.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 | |
19 | g.7560709A>C | CA403137672 | PNPLA6 | c.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 | |
19 | g.7560709A>G | CA403137675 | PNPLA6 | c.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 | |
19 | g.7560709A>T | CA403137678 | PNPLA6 | c.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 | |
19 | g.7560710G>A | CA505245191 | PNPLA6 | c.3762G>A (p.Glu1254=) c.3648G>A (p.Glu1216=) c.3792G>A (p.Glu1264=) c.3567G>A (p.Glu1189=) n.120G>A c.186-304G>A | |
19 | g.7560710G>C | CA403137682 | PNPLA6 | c.3762G>C (p.Glu1254Asp) c.3648G>C (p.Glu1216Asp) c.3792G>C (p.Glu1264Asp) c.3567G>C (p.Glu1189Asp) n.120G>C c.186-304G>C | |
19 | g.7560710G>T | CA403137685 | PNPLA6 | c.3762G>T (p.Glu1254Asp) c.3648G>T (p.Glu1216Asp) c.3792G>T (p.Glu1264Asp) c.3567G>T (p.Glu1189Asp) n.120G>T c.186-304G>T | |
19 | g.7560711A>C | CA403137692 | PNPLA6 | c.3763A>C (p.Lys1255Gln) c.3649A>C (p.Lys1217Gln) c.3793A>C (p.Lys1265Gln) c.3568A>C (p.Lys1190Gln) n.121A>C c.186-303A>C | |
19 | g.7560711A>G | CA403137690 | PNPLA6 | c.3763A>G (p.Lys1255Glu) c.3649A>G (p.Lys1217Glu) c.3793A>G (p.Lys1265Glu) c.3568A>G (p.Lys1190Glu) n.121A>G c.186-303A>G | |
19 | g.7560711A>T | CA403137688 | PNPLA6 | c.3763A>T (p.Lys1255Ter) c.3649A>T (p.Lys1217Ter) c.3793A>T (p.Lys1265Ter) c.3568A>T (p.Lys1190Ter) n.121A>T c.186-303A>T | |
19 | g.7560712A>C | CA403137694 | PNPLA6 | c.3764A>C (p.Lys1255Thr) c.3650A>C (p.Lys1217Thr) c.3794A>C (p.Lys1265Thr) c.3569A>C (p.Lys1190Thr) n.122A>C c.186-302A>C | |
19 | g.7560712A>G | CA403137698 | PNPLA6 | c.3764A>G (p.Lys1255Arg) c.3650A>G (p.Lys1217Arg) c.3794A>G (p.Lys1265Arg) c.3569A>G (p.Lys1190Arg) n.122A>G c.186-302A>G | |
19 | g.7560712A>T | CA403137695 | PNPLA6 | c.3764A>T (p.Lys1255Ile) c.3650A>T (p.Lys1217Ile) c.3794A>T (p.Lys1265Ile) c.3569A>T (p.Lys1190Ile) n.122A>T c.186-302A>T |