Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.7560992C>A | CA2587958376 | PNPLA6 | c.3817-22C>A (n.3817-22C>A) c.3703-22C>A (n.3703-22C>A) c.3847-22C>A (n.3847-22C>A) c.3622-22C>A (n.3622-22C>A) n.175-22C>A c.186-22C>A | gnomAD v4 |
19 | g.7560992C= | CA2320979496 | PNPLA6 | c.3817-22C= (n.3817-22C=) c.3703-22C= (n.3703-22C=) c.3847-22C= (n.3847-22C=) c.3622-22C= (n.3622-22C=) n.175-22C= c.186-22C= | |
19 | g.7560992C>G | CA9140608 | PNPLA6 | c.3817-22C>G (n.3817-22C>G) c.3703-22C>G (n.3703-22C>G) c.3847-22C>G (n.3847-22C>G) c.3622-22C>G (n.3622-22C>G) n.175-22C>G c.186-22C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7560992C>T | CA2587958377 | PNPLA6 | c.3817-22C>T (n.3817-22C>T) c.3703-22C>T (n.3703-22C>T) c.3847-22C>T (n.3847-22C>T) c.3622-22C>T (n.3622-22C>T) n.175-22C>T c.186-22C>T | gnomAD v4 |
19 | g.7560993C>A | CA2587958378 | PNPLA6 | c.3817-21C>A (n.3817-21C>A) c.3703-21C>A (n.3703-21C>A) c.3847-21C>A (n.3847-21C>A) c.3622-21C>A (n.3622-21C>A) n.175-21C>A c.186-21C>A | gnomAD v4 |
19 | g.7560993C>T | CA2587958379 | PNPLA6 | c.3817-21C>T (n.3817-21C>T) c.3703-21C>T (n.3703-21C>T) c.3847-21C>T (n.3847-21C>T) c.3622-21C>T (n.3622-21C>T) n.175-21C>T c.186-21C>T | gnomAD v4 |
19 | g.7560994T>A | CA2587958380 | PNPLA6 | c.3817-20T>A (n.3817-20T>A) c.3703-20T>A (n.3703-20T>A) c.3847-20T>A (n.3847-20T>A) c.3622-20T>A (n.3622-20T>A) n.175-20T>A c.186-20T>A | gnomAD v4 |
19 | g.7560994T>C | CA2320979498 | PNPLA6 | c.3817-20T>C (n.3817-20T>C) c.3703-20T>C (n.3703-20T>C) c.3847-20T>C (n.3847-20T>C) c.3622-20T>C (n.3622-20T>C) n.175-20T>C c.186-20T>C | dbSNP |
19 | g.7560994T>G | CA2587958381 | PNPLA6 | c.3817-20T>G (n.3817-20T>G) c.3703-20T>G (n.3703-20T>G) c.3847-20T>G (n.3847-20T>G) c.3622-20T>G (n.3622-20T>G) n.175-20T>G c.186-20T>G | gnomAD v4 |
19 | g.7560994T= | CA2320979497 | PNPLA6 | c.3817-20T= (n.3817-20T=) c.3703-20T= (n.3703-20T=) c.3847-20T= (n.3847-20T=) c.3622-20T= (n.3622-20T=) n.175-20T= c.186-20T= | |
19 | g.7560995C>A | CA2587958382 | PNPLA6 | c.3817-19C>A (n.3817-19C>A) c.3703-19C>A (n.3703-19C>A) c.3847-19C>A (n.3847-19C>A) c.3622-19C>A (n.3622-19C>A) n.175-19C>A c.186-19C>A | gnomAD v4 |
19 | g.7560996A>G | CA2587958383 | PNPLA6 | c.3817-18A>G (n.3817-18A>G) c.3703-18A>G (n.3703-18A>G) c.3847-18A>G (n.3847-18A>G) c.3622-18A>G (n.3622-18A>G) n.175-18A>G c.186-18A>G | gnomAD v4 |
19 | g.7560996A>T | CA2576598140 | PNPLA6 | c.3817-18A>T (n.3817-18A>T) c.3703-18A>T (n.3703-18A>T) c.3847-18A>T (n.3847-18A>T) c.3622-18A>T (n.3622-18A>T) n.175-18A>T c.186-18A>T | |
19 | g.7560997C>A | CA2573155923 | PNPLA6 | c.3817-17C>A (n.3817-17C>A) c.3703-17C>A (n.3703-17C>A) c.3847-17C>A (n.3847-17C>A) c.3622-17C>A (n.3622-17C>A) n.175-17C>A c.186-17C>A | ClinVar dbSNP gnomAD v4 |
19 | g.7560997C= | CA2320979499 | PNPLA6 | c.3817-17C= (n.3817-17C=) c.3703-17C= (n.3703-17C=) c.3847-17C= (n.3847-17C=) c.3622-17C= (n.3622-17C=) n.175-17C= c.186-17C= | |
19 | g.7560997C>G | CA2587958384 | PNPLA6 | c.3817-17C>G (n.3817-17C>G) c.3703-17C>G (n.3703-17C>G) c.3847-17C>G (n.3847-17C>G) c.3622-17C>G (n.3622-17C>G) n.175-17C>G c.186-17C>G | gnomAD v4 |
19 | g.7560997C>T | CA9140609 | PNPLA6 | c.3817-17C>T (n.3817-17C>T) c.3703-17C>T (n.3703-17C>T) c.3847-17C>T (n.3847-17C>T) c.3622-17C>T (n.3622-17C>T) n.175-17C>T c.186-17C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7560998C>A | CA2587958385 | PNPLA6 | c.3817-16C>A (n.3817-16C>A) c.3703-16C>A (n.3703-16C>A) c.3847-16C>A (n.3847-16C>A) c.3622-16C>A (n.3622-16C>A) n.175-16C>A c.186-16C>A | gnomAD v4 |
19 | g.7560998C>T | CA2587958386 | PNPLA6 | c.3817-16C>T (n.3817-16C>T) c.3703-16C>T (n.3703-16C>T) c.3847-16C>T (n.3847-16C>T) c.3622-16C>T (n.3622-16C>T) n.175-16C>T c.186-16C>T | gnomAD v4 |
19 | g.7560999A>T | CA2587958387 | PNPLA6 | c.3817-15A>T (n.3817-15A>T) c.3703-15A>T (n.3703-15A>T) c.3847-15A>T (n.3847-15A>T) c.3622-15A>T (n.3622-15A>T) n.175-15A>T c.186-15A>T | gnomAD v4 |
19 | g.7561000G>A | CA2576598141 | PNPLA6 | c.3817-14G>A (n.3817-14G>A) c.3703-14G>A (n.3703-14G>A) c.3847-14G>A (n.3847-14G>A) c.3622-14G>A (n.3622-14G>A) n.175-14G>A c.186-14G>A | gnomAD v4 |
19 | g.7561000G= | CA2320979500 | PNPLA6 | c.3817-14G= (n.3817-14G=) c.3703-14G= (n.3703-14G=) c.3847-14G= (n.3847-14G=) c.3622-14G= (n.3622-14G=) n.175-14G= c.186-14G= | |
19 | g.7561000G>T | CA884242526 | PNPLA6 | c.3817-14G>T (n.3817-14G>T) c.3703-14G>T (n.3703-14G>T) c.3847-14G>T (n.3847-14G>T) c.3622-14G>T (n.3622-14G>T) n.175-14G>T c.186-14G>T | dbSNP |
19 | g.7561001T>A | CA304883005 | PNPLA6 | c.3817-13T>A (n.3817-13T>A) c.3703-13T>A (n.3703-13T>A) c.3847-13T>A (n.3847-13T>A) c.3622-13T>A (n.3622-13T>A) n.175-13T>A c.186-13T>A | dbSNP gnomAD v4 |
19 | g.7561001T= | CA2320979501 | PNPLA6 | c.3817-13T= (n.3817-13T=) c.3703-13T= (n.3703-13T=) c.3847-13T= (n.3847-13T=) c.3622-13T= (n.3622-13T=) n.175-13T= c.186-13T= | |
19 | g.7561002G>A | CA631325824 | PNPLA6 | c.3817-12G>A (n.3817-12G>A) c.3703-12G>A (n.3703-12G>A) c.3847-12G>A (n.3847-12G>A) c.3622-12G>A (n.3622-12G>A) n.175-12G>A c.186-12G>A | dbSNP gnomAD v2 |
19 | g.7561002G= | CA2320979502 | PNPLA6 | c.3817-12G= (n.3817-12G=) c.3703-12G= (n.3703-12G=) c.3847-12G= (n.3847-12G=) c.3622-12G= (n.3622-12G=) n.175-12G= c.186-12G= | |
19 | g.7561002G>T | CA2587958388 | PNPLA6 | c.3817-12G>T (n.3817-12G>T) c.3703-12G>T (n.3703-12G>T) c.3847-12G>T (n.3847-12G>T) c.3622-12G>T (n.3622-12G>T) n.175-12G>T c.186-12G>T | gnomAD v4 |
19 | g.7561003T>A | CA2587958389 | PNPLA6 | c.3817-11T>A (n.3817-11T>A) c.3703-11T>A (n.3703-11T>A) c.3847-11T>A (n.3847-11T>A) c.3622-11T>A (n.3622-11T>A) n.175-11T>A c.186-11T>A | gnomAD v4 |
19 | g.7561003T>C | CA631325825 | PNPLA6 | c.3817-11T>C (n.3817-11T>C) c.3703-11T>C (n.3703-11T>C) c.3847-11T>C (n.3847-11T>C) c.3622-11T>C (n.3622-11T>C) n.175-11T>C c.186-11T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7561003T= | CA2320979503 | PNPLA6 | c.3817-11T= (n.3817-11T=) c.3703-11T= (n.3703-11T=) c.3847-11T= (n.3847-11T=) c.3622-11T= (n.3622-11T=) n.175-11T= c.186-11T= | |
19 | g.7561004C>T | CA2587958390 | PNPLA6 | c.3817-10C>T (n.3817-10C>T) c.3703-10C>T (n.3703-10C>T) c.3847-10C>T (n.3847-10C>T) c.3622-10C>T (n.3622-10C>T) n.175-10C>T c.186-10C>T | gnomAD v4 |
19 | g.7561005A= | CA2320979504 | PNPLA6 | c.3817-9A= (n.3817-9A=) c.3703-9A= (n.3703-9A=) c.3847-9A= (n.3847-9A=) c.3622-9A= (n.3622-9A=) n.175-9A= c.186-9A= | |
19 | g.7561005A>G | CA9140610 | PNPLA6 | c.3817-9A>G (n.3817-9A>G) c.3703-9A>G (n.3703-9A>G) c.3847-9A>G (n.3847-9A>G) c.3622-9A>G (n.3622-9A>G) n.175-9A>G c.186-9A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7561006C= | CA2320979505 | PNPLA6 | c.3817-8C= (n.3817-8C=) c.3703-8C= (n.3703-8C=) c.3847-8C= (n.3847-8C=) c.3622-8C= (n.3622-8C=) n.175-8C= c.186-8C= | |
19 | g.7561006C>T | CA631325828 | PNPLA6 | c.3817-8C>T (n.3817-8C>T) c.3703-8C>T (n.3703-8C>T) c.3847-8C>T (n.3847-8C>T) c.3622-8C>T (n.3622-8C>T) n.175-8C>T c.186-8C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7561009del | CA2587958391 | PNPLA6 | c.3817-5del (n.3817-5del) c.3703-5del (n.3703-5del) c.3847-5del (n.3847-5del) c.3622-5del (n.3622-5del) n.175-5del c.186-5del | gnomAD v4 |
19 | g.7561007C>A | CA2587958392 | PNPLA6 | c.3817-7C>A (n.3817-7C>A) c.3703-7C>A (n.3703-7C>A) c.3847-7C>A (n.3847-7C>A) c.3622-7C>A (n.3622-7C>A) n.175-7C>A c.186-7C>A | gnomAD v4 |
19 | g.7561007C= | CA2320979506 | PNPLA6 | c.3817-7C= (n.3817-7C=) c.3703-7C= (n.3703-7C=) c.3847-7C= (n.3847-7C=) c.3622-7C= (n.3622-7C=) n.175-7C= c.186-7C= | |
19 | g.7561007C>T | CA631325829 | PNPLA6 | c.3817-7C>T (n.3817-7C>T) c.3703-7C>T (n.3703-7C>T) c.3847-7C>T (n.3847-7C>T) c.3622-7C>T (n.3622-7C>T) n.175-7C>T c.186-7C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7561008C>A | CA2587958393 | PNPLA6 | c.3817-6C>A (n.3817-6C>A) c.3703-6C>A (n.3703-6C>A) c.3847-6C>A (n.3847-6C>A) c.3622-6C>A (n.3622-6C>A) n.175-6C>A c.186-6C>A | gnomAD v4 |
19 | g.7561008C>G | CA2573054846 | PNPLA6 | c.3817-6C>G (n.3817-6C>G) c.3703-6C>G (n.3703-6C>G) c.3847-6C>G (n.3847-6C>G) c.3622-6C>G (n.3622-6C>G) n.175-6C>G c.186-6C>G | ClinVar dbSNP gnomAD v4 |
19 | g.7561008C>T | CA2587958394 | PNPLA6 | c.3817-6C>T (n.3817-6C>T) c.3703-6C>T (n.3703-6C>T) c.3847-6C>T (n.3847-6C>T) c.3622-6C>T (n.3622-6C>T) n.175-6C>T c.186-6C>T | gnomAD v4 |
19 | g.7561009C>A | CA2587958395 | PNPLA6 | c.3817-5C>A (n.3817-5C>A) c.3703-5C>A (n.3703-5C>A) c.3847-5C>A (n.3847-5C>A) c.3622-5C>A (n.3622-5C>A) n.175-5C>A c.186-5C>A | gnomAD v4 |
19 | g.7561009C= | CA2320979507 | PNPLA6 | c.3817-5C= (n.3817-5C=) c.3703-5C= (n.3703-5C=) c.3847-5C= (n.3847-5C=) c.3622-5C= (n.3622-5C=) n.175-5C= c.186-5C= | |
19 | g.7561009C>T | CA631462700 | PNPLA6 | c.3817-5C>T (n.3817-5C>T) c.3703-5C>T (n.3703-5C>T) c.3847-5C>T (n.3847-5C>T) c.3622-5C>T (n.3622-5C>T) n.175-5C>T c.186-5C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7561012A>C | CA403138174 | PNPLA6 | c.3817-2A>C (n.3817-2A>C) c.3703-2A>C (n.3703-2A>C) c.3847-2A>C (n.3847-2A>C) c.3622-2A>C (n.3622-2A>C) n.175-2A>C c.186-2A>C | |
19 | g.7561012A>G | CA403138176 | PNPLA6 | c.3817-2A>G (n.3817-2A>G) c.3703-2A>G (n.3703-2A>G) c.3847-2A>G (n.3847-2A>G) c.3622-2A>G (n.3622-2A>G) n.175-2A>G c.186-2A>G | gnomAD v4 |
19 | g.7561012A>T | CA403138178 | PNPLA6 | c.3817-2A>T (n.3817-2A>T) c.3703-2A>T (n.3703-2A>T) c.3847-2A>T (n.3847-2A>T) c.3622-2A>T (n.3622-2A>T) n.175-2A>T c.186-2A>T | |
19 | g.7561013G>A | CA403138181 | PNPLA6 | c.3817-1G>A (n.3817-1G>A) c.3703-1G>A (n.3703-1G>A) c.3847-1G>A (n.3847-1G>A) c.3622-1G>A (n.3622-1G>A) n.175-1G>A c.186-1G>A | |
19 | g.7561013G>C | CA403138184 | PNPLA6 | c.3817-1G>C (n.3817-1G>C) c.3703-1G>C (n.3703-1G>C) c.3847-1G>C (n.3847-1G>C) c.3622-1G>C (n.3622-1G>C) n.175-1G>C c.186-1G>C | |
19 | g.7561013G>T | CA403138188 | PNPLA6 | c.3817-1G>T (n.3817-1G>T) c.3703-1G>T (n.3703-1G>T) c.3847-1G>T (n.3847-1G>T) c.3622-1G>T (n.3622-1G>T) n.175-1G>T c.186-1G>T | |
19 | g.7561014G>A | CA403138190 | PNPLA6 | c.3817G>A (p.Val1273Met) c.3703G>A (p.Val1235Met) c.3847G>A (p.Val1283Met) c.3622G>A (p.Val1208Met) n.175G>A c.186G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.7561014G>C | CA403138193 | PNPLA6 | c.3817G>C (p.Val1273Leu) c.3703G>C (p.Val1235Leu) c.3847G>C (p.Val1283Leu) c.3622G>C (p.Val1208Leu) n.175G>C c.186G>C | |
19 | g.7561014G= | CA2320979508 | PNPLA6 | c.3817G= (p.Val1273=) c.3703G= (p.Val1235=) c.3847G= (p.Val1283=) c.3622G= (p.Val1208=) n.175G= c.186G= | |
19 | g.7561014G>T | CA403138194 | PNPLA6 | c.3817G>T (p.Val1273Leu) c.3703G>T (p.Val1235Leu) c.3847G>T (p.Val1283Leu) c.3622G>T (p.Val1208Leu) n.175G>T c.186G>T | dbSNP gnomAD v2 |
19 | g.7561015T>A | CA403138202 | PNPLA6 | c.3818T>A (p.Val1273Glu) c.3704T>A (p.Val1235Glu) c.3848T>A (p.Val1283Glu) c.3623T>A (p.Val1208Glu) n.176T>A c.187T>A | |
19 | g.7561015T>C | CA403138199 | PNPLA6 | c.3818T>C (p.Val1273Ala) c.3704T>C (p.Val1235Ala) c.3848T>C (p.Val1283Ala) c.3623T>C (p.Val1208Ala) n.176T>C c.187T>C | |
19 | g.7561015T>G | CA403138197 | PNPLA6 | c.3818T>G (p.Val1273Gly) c.3704T>G (p.Val1235Gly) c.3848T>G (p.Val1283Gly) c.3623T>G (p.Val1208Gly) n.176T>G c.187T>G | |
19 | g.7561016G>A | CA505404293 | PNPLA6 | c.3819G>A (p.Val1273=) c.3705G>A (p.Val1235=) c.3849G>A (p.Val1283=) c.3624G>A (p.Val1208=) n.177G>A c.188G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7561016G>C | CA505404294 | PNPLA6 | c.3819G>C (p.Val1273=) c.3705G>C (p.Val1235=) c.3849G>C (p.Val1283=) c.3624G>C (p.Val1208=) n.177G>C c.188G>C | |
19 | g.7561016G= | CA2320979509 | PNPLA6 | c.3819G= (p.Val1273=) c.3705G= (p.Val1235=) c.3849G= (p.Val1283=) c.3624G= (p.Val1208=) n.177G= c.188G= | |
19 | g.7561016G>T | CA505404295 | PNPLA6 | c.3819G>T (p.Val1273=) c.3705G>T (p.Val1235=) c.3849G>T (p.Val1283=) c.3624G>T (p.Val1208=) n.177G>T c.188G>T | |
19 | g.7561017C>A | CA403138208 | PNPLA6 | c.3820C>A (p.Leu1274Ile) c.3706C>A (p.Leu1236Ile) c.3850C>A (p.Leu1284Ile) c.3625C>A (p.Leu1209Ile) n.178C>A c.189C>A | gnomAD v4 |
19 | g.7561017C>G | CA403138218 | PNPLA6 | c.3820C>G (p.Leu1274Val) c.3706C>G (p.Leu1236Val) c.3850C>G (p.Leu1284Val) c.3625C>G (p.Leu1209Val) n.178C>G c.189C>G | |
19 | g.7561017C>T | CA403138220 | PNPLA6 | c.3820C>T (p.Leu1274Phe) c.3706C>T (p.Leu1236Phe) c.3850C>T (p.Leu1284Phe) c.3625C>T (p.Leu1209Phe) n.178C>T c.189C>T | gnomAD v4 |
19 | g.7561018T>A | CA403138222 | PNPLA6 | c.3821T>A (p.Leu1274His) c.3707T>A (p.Leu1236His) c.3851T>A (p.Leu1284His) c.3626T>A (p.Leu1209His) n.179T>A c.190T>A | |
19 | g.7561018T>C | CA403138225 | PNPLA6 | c.3821T>C (p.Leu1274Pro) c.3707T>C (p.Leu1236Pro) c.3851T>C (p.Leu1284Pro) c.3626T>C (p.Leu1209Pro) n.179T>C c.190T>C | |
19 | g.7561018T>G | CA403138227 | PNPLA6 | c.3821T>G (p.Leu1274Arg) c.3707T>G (p.Leu1236Arg) c.3851T>G (p.Leu1284Arg) c.3626T>G (p.Leu1209Arg) n.179T>G c.190T>G | |
19 | g.7561019T>A | CA505404296 | PNPLA6 | c.3822T>A (p.Leu1274=) c.3708T>A (p.Leu1236=) c.3852T>A (p.Leu1284=) c.3627T>A (p.Leu1209=) n.180T>A c.191T>A | |
19 | g.7561019T>C | CA505404297 | PNPLA6 | c.3822T>C (p.Leu1274=) c.3708T>C (p.Leu1236=) c.3852T>C (p.Leu1284=) c.3627T>C (p.Leu1209=) n.180T>C c.191T>C | |
19 | g.7561019T>G | CA505404298 | PNPLA6 | c.3822T>G (p.Leu1274=) c.3708T>G (p.Leu1236=) c.3852T>G (p.Leu1284=) c.3627T>G (p.Leu1209=) n.180T>G c.191T>G | |
19 | g.7561020G>A | CA304883009 | PNPLA6 | c.3823G>A (p.Ala1275Thr) c.3709G>A (p.Ala1237Thr) c.3853G>A (p.Ala1285Thr) c.3628G>A (p.Ala1210Thr) n.181G>A c.192G>A | ClinVar dbSNP gnomAD v4 |
19 | g.7561020G>C | CA304883011 | PNPLA6 | c.3823G>C (p.Ala1275Pro) c.3709G>C (p.Ala1237Pro) c.3853G>C (p.Ala1285Pro) c.3628G>C (p.Ala1210Pro) n.181G>C c.192G>C | dbSNP |
19 | g.7561020G= | CA2320979510 | PNPLA6 | c.3823G= (p.Ala1275=) c.3709G= (p.Ala1237=) c.3853G= (p.Ala1285=) c.3628G= (p.Ala1210=) n.181G= c.192G= | |
19 | g.7561020G>T | CA403138234 | PNPLA6 | c.3823G>T (p.Ala1275Ser) c.3709G>T (p.Ala1237Ser) c.3853G>T (p.Ala1285Ser) c.3628G>T (p.Ala1210Ser) n.181G>T c.192G>T | |
19 | g.7561021C>A | CA403138239 | PNPLA6 | c.3824C>A (p.Ala1275Asp) c.3710C>A (p.Ala1237Asp) c.3854C>A (p.Ala1285Asp) c.3629C>A (p.Ala1210Asp) n.182C>A c.193C>A | gnomAD v4 |
19 | g.7561021C>G | CA403138242 | PNPLA6 | c.3824C>G (p.Ala1275Gly) c.3710C>G (p.Ala1237Gly) c.3854C>G (p.Ala1285Gly) c.3629C>G (p.Ala1210Gly) n.182C>G c.193C>G | |
19 | g.7561021C>T | CA403138244 | PNPLA6 | c.3824C>T (p.Ala1275Val) c.3710C>T (p.Ala1237Val) c.3854C>T (p.Ala1285Val) c.3629C>T (p.Ala1210Val) n.182C>T c.193C>T | |
19 | g.7561022C>A | CA505404300 | PNPLA6 | c.3825C>A (p.Ala1275=) c.3711C>A (p.Ala1237=) c.3855C>A (p.Ala1285=) c.3630C>A (p.Ala1210=) n.183C>A c.194C>A | |
19 | g.7561022C>G | CA505404301 | PNPLA6 | c.3825C>G (p.Ala1275=) c.3711C>G (p.Ala1237=) c.3855C>G (p.Ala1285=) c.3630C>G (p.Ala1210=) n.183C>G c.194C>G | |
19 | g.7561022C>T | CA505404299 | PNPLA6 | c.3825C>T (p.Ala1275=) c.3711C>T (p.Ala1237=) c.3855C>T (p.Ala1285=) c.3630C>T (p.Ala1210=) n.183C>T c.194C>T | gnomAD v4 COSMIC COSMIC |
19 | g.7561023T>A | CA403138252 | PNPLA6 | c.3826T>A (p.Phe1276Ile) c.3712T>A (p.Phe1238Ile) c.3856T>A (p.Phe1286Ile) c.3631T>A (p.Phe1211Ile) n.184T>A c.195T>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7561023T>C | CA403138250 | PNPLA6 | c.3826T>C (p.Phe1276Leu) c.3712T>C (p.Phe1238Leu) c.3856T>C (p.Phe1286Leu) c.3631T>C (p.Phe1211Leu) n.184T>C c.195T>C | |
19 | g.7561023T>G | CA403138248 | PNPLA6 | c.3826T>G (p.Phe1276Val) c.3712T>G (p.Phe1238Val) c.3856T>G (p.Phe1286Val) c.3631T>G (p.Phe1211Val) n.184T>G c.195T>G | |
19 | g.7561023T= | CA2320979511 | PNPLA6 | c.3826T= (p.Phe1276=) c.3712T= (p.Phe1238=) c.3856T= (p.Phe1286=) c.3631T= (p.Phe1211=) n.184T= c.195T= | |
19 | g.7561024T>A | CA403138256 | PNPLA6 | c.3827T>A (p.Phe1276Tyr) c.3713T>A (p.Phe1238Tyr) c.3857T>A (p.Phe1286Tyr) c.3632T>A (p.Phe1211Tyr) n.185T>A c.196T>A | |
19 | g.7561024T>C | CA403138266 | PNPLA6 | c.3827T>C (p.Phe1276Ser) c.3713T>C (p.Phe1238Ser) c.3857T>C (p.Phe1286Ser) c.3632T>C (p.Phe1211Ser) n.185T>C c.196T>C | |
19 | g.7561024T>G | CA403138260 | PNPLA6 | c.3827T>G (p.Phe1276Cys) c.3713T>G (p.Phe1238Cys) c.3857T>G (p.Phe1286Cys) c.3632T>G (p.Phe1211Cys) n.185T>G c.196T>G | |
19 | g.7561025C>A | CA403138269 | PNPLA6 | c.3828C>A (p.Phe1276Leu) c.3714C>A (p.Phe1238Leu) c.3858C>A (p.Phe1286Leu) c.3633C>A (p.Phe1211Leu) n.186C>A c.197C>A | |
19 | g.7561025C>G | CA403138274 | PNPLA6 | c.3828C>G (p.Phe1276Leu) c.3714C>G (p.Phe1238Leu) c.3858C>G (p.Phe1286Leu) c.3633C>G (p.Phe1211Leu) n.186C>G c.197C>G | |
19 | g.7561025C>T | CA505404302 | PNPLA6 | c.3828C>T (p.Phe1276=) c.3714C>T (p.Phe1238=) c.3858C>T (p.Phe1286=) c.3633C>T (p.Phe1211=) n.186C>T c.197C>T | ClinVar |
19 | g.7561026C>A | CA403138284 | PNPLA6 | c.3829C>A (p.Pro1277Thr) c.3715C>A (p.Pro1239Thr) c.3859C>A (p.Pro1287Thr) c.3634C>A (p.Pro1212Thr) n.187C>A c.198C>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7561026C= | CA2320979512 | PNPLA6 | c.3829C= (p.Pro1277=) c.3715C= (p.Pro1239=) c.3859C= (p.Pro1287=) c.3634C= (p.Pro1212=) n.187C= c.198C= | |
19 | g.7561026C>G | CA403138287 | PNPLA6 | c.3829C>G (p.Pro1277Ala) c.3715C>G (p.Pro1239Ala) c.3859C>G (p.Pro1287Ala) c.3634C>G (p.Pro1212Ala) n.187C>G c.198C>G | |
19 | g.7561026C>T | CA9140611 | PNPLA6 | c.3829C>T (p.Pro1277Ser) c.3715C>T (p.Pro1239Ser) c.3859C>T (p.Pro1287Ser) c.3634C>T (p.Pro1212Ser) n.187C>T c.198C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.7561027C>A | CA403138292 | PNPLA6 | c.3830C>A (p.Pro1277Gln) c.3716C>A (p.Pro1239Gln) c.3860C>A (p.Pro1287Gln) c.3635C>A (p.Pro1212Gln) n.188C>A c.199C>A | |
19 | g.7561027C>G | CA403138295 | PNPLA6 | c.3830C>G (p.Pro1277Arg) c.3716C>G (p.Pro1239Arg) c.3860C>G (p.Pro1287Arg) c.3635C>G (p.Pro1212Arg) n.188C>G c.199C>G | |
19 | g.7561027C>T | CA403138299 | PNPLA6 | c.3830C>T (p.Pro1277Leu) c.3716C>T (p.Pro1239Leu) c.3860C>T (p.Pro1287Leu) c.3635C>T (p.Pro1212Leu) n.188C>T c.199C>T | |
19 | g.7561028A>C | CA505404303 | PNPLA6 | c.3831A>C (p.Pro1277=) c.3717A>C (p.Pro1239=) c.3861A>C (p.Pro1287=) c.3636A>C (p.Pro1212=) n.189A>C c.200A>C | |
19 | g.7561028A>G | CA505404304 | PNPLA6 | c.3831A>G (p.Pro1277=) c.3717A>G (p.Pro1239=) c.3861A>G (p.Pro1287=) c.3636A>G (p.Pro1212=) n.189A>G c.200A>G | |
19 | g.7561028A>T | CA505404305 | PNPLA6 | c.3831A>T (p.Pro1277=) c.3717A>T (p.Pro1239=) c.3861A>T (p.Pro1287=) c.3636A>T (p.Pro1212=) n.189A>T c.200A>T | |
19 | g.7561029A>C | CA403138303 | PNPLA6 | c.3832A>C (p.Ser1278Arg) c.3718A>C (p.Ser1240Arg) c.3862A>C (p.Ser1288Arg) c.3637A>C (p.Ser1213Arg) n.190A>C c.201A>C | |
19 | g.7561029A>G | CA403138315 | PNPLA6 | c.3832A>G (p.Ser1278Gly) c.3718A>G (p.Ser1240Gly) c.3862A>G (p.Ser1288Gly) c.3637A>G (p.Ser1213Gly) n.190A>G c.201A>G | ClinVar dbSNP |
19 | g.7561029A>T | CA403138318 | PNPLA6 | c.3832A>T (p.Ser1278Cys) c.3718A>T (p.Ser1240Cys) c.3862A>T (p.Ser1288Cys) c.3637A>T (p.Ser1213Cys) n.190A>T c.201A>T | |
19 | g.7561030G>A | CA9140612 | PNPLA6 | c.3833G>A (p.Ser1278Asn) c.3719G>A (p.Ser1240Asn) c.3863G>A (p.Ser1288Asn) c.3638G>A (p.Ser1213Asn) n.191G>A c.202G>A | dbSNP ExAC gnomAD v2 |
19 | g.7561030G>C | CA403138321 | PNPLA6 | c.3833G>C (p.Ser1278Thr) c.3719G>C (p.Ser1240Thr) c.3863G>C (p.Ser1288Thr) c.3638G>C (p.Ser1213Thr) n.191G>C c.202G>C | gnomAD v4 |
19 | g.7561030G= | CA2320979513 | PNPLA6 | c.3833G= (p.Ser1278=) c.3719G= (p.Ser1240=) c.3863G= (p.Ser1288=) c.3638G= (p.Ser1213=) n.191G= c.202G= | |
19 | g.7561030G>T | CA403138324 | PNPLA6 | c.3833G>T (p.Ser1278Ile) c.3719G>T (p.Ser1240Ile) c.3863G>T (p.Ser1288Ile) c.3638G>T (p.Ser1213Ile) n.191G>T c.202G>T | |
19 | g.7561033_7561038del | CA2587958396 | PNPLA6 | c.3836_3841del (p.Ser1279_Gly1280del) c.3722_3727del (p.Ser1241_Gly1242del) c.3866_3871del (p.Ser1289_Gly1290del) c.3641_3646del (p.Ser1214_Gly1215del) n.194_199del c.205_210del | gnomAD v4 |
19 | g.7561031C>A | CA403138326 | PNPLA6 | c.3834C>A (p.Ser1278Arg) c.3720C>A (p.Ser1240Arg) c.3864C>A (p.Ser1288Arg) c.3639C>A (p.Ser1213Arg) n.192C>A c.203C>A | |
19 | g.7561031C>G | CA403138329 | PNPLA6 | c.3834C>G (p.Ser1278Arg) c.3720C>G (p.Ser1240Arg) c.3864C>G (p.Ser1288Arg) c.3639C>G (p.Ser1213Arg) n.192C>G c.203C>G | |
19 | g.7561031C>T | CA505404306 | PNPLA6 | c.3834C>T (p.Ser1278=) c.3720C>T (p.Ser1240=) c.3864C>T (p.Ser1288=) c.3639C>T (p.Ser1213=) n.192C>T c.203C>T | |
19 | g.7561032T>A | CA403138332 | PNPLA6 | c.3835T>A (p.Ser1279Thr) c.3721T>A (p.Ser1241Thr) c.3865T>A (p.Ser1289Thr) c.3640T>A (p.Ser1214Thr) n.193T>A c.204T>A | |
19 | g.7561032T>C | CA403138334 | PNPLA6 | c.3835T>C (p.Ser1279Pro) c.3721T>C (p.Ser1241Pro) c.3865T>C (p.Ser1289Pro) c.3640T>C (p.Ser1214Pro) n.193T>C c.204T>C | COSMIC COSMIC |
19 | g.7561032T>G | CA403138337 | PNPLA6 | c.3835T>G (p.Ser1279Ala) c.3721T>G (p.Ser1241Ala) c.3865T>G (p.Ser1289Ala) c.3640T>G (p.Ser1214Ala) n.193T>G c.204T>G | |
19 | g.7561033C>A | CA403138341 | PNPLA6 | c.3836C>A (p.Ser1279Tyr) c.3722C>A (p.Ser1241Tyr) c.3866C>A (p.Ser1289Tyr) c.3641C>A (p.Ser1214Tyr) n.194C>A c.205C>A | |
19 | g.7561033C>G | CA403138342 | PNPLA6 | c.3836C>G (p.Ser1279Cys) c.3722C>G (p.Ser1241Cys) c.3866C>G (p.Ser1289Cys) c.3641C>G (p.Ser1214Cys) n.194C>G c.205C>G | |
19 | g.7561033C>T | CA403138345 | PNPLA6 | c.3836C>T (p.Ser1279Phe) c.3722C>T (p.Ser1241Phe) c.3866C>T (p.Ser1289Phe) c.3641C>T (p.Ser1214Phe) n.194C>T c.205C>T | |
19 | g.7561034T>A | CA505404307 | PNPLA6 | c.3837T>A (p.Ser1279=) c.3723T>A (p.Ser1241=) c.3867T>A (p.Ser1289=) c.3642T>A (p.Ser1214=) n.195T>A c.206T>A | |
19 | g.7561034T>C | CA505404308 | PNPLA6 | c.3837T>C (p.Ser1279=) c.3723T>C (p.Ser1241=) c.3867T>C (p.Ser1289=) c.3642T>C (p.Ser1214=) n.195T>C c.206T>C | |
19 | g.7561034T>G | CA505404309 | PNPLA6 | c.3837T>G (p.Ser1279=) c.3723T>G (p.Ser1241=) c.3867T>G (p.Ser1289=) c.3642T>G (p.Ser1214=) n.195T>G c.206T>G | |
19 | g.7561035G>A | CA403138346 | PNPLA6 | c.3838G>A (p.Gly1280Ser) c.3724G>A (p.Gly1242Ser) c.3868G>A (p.Gly1290Ser) c.3643G>A (p.Gly1215Ser) n.196G>A c.207G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7561035G>C | CA403138348 | PNPLA6 | c.3838G>C (p.Gly1280Arg) c.3724G>C (p.Gly1242Arg) c.3868G>C (p.Gly1290Arg) c.3643G>C (p.Gly1215Arg) n.196G>C c.207G>C | |
19 | g.7561035G= | CA2320979514 | PNPLA6 | c.3838G= (p.Gly1280=) c.3724G= (p.Gly1242=) c.3868G= (p.Gly1290=) c.3643G= (p.Gly1215=) n.196G= c.207G= | |
19 | g.7561035G>T | CA403138350 | PNPLA6 | c.3838G>T (p.Gly1280Cys) c.3724G>T (p.Gly1242Cys) c.3868G>T (p.Gly1290Cys) c.3643G>T (p.Gly1215Cys) n.196G>T c.207G>T | |
19 | g.7561036G>A | CA403138354 | PNPLA6 | c.3839G>A (p.Gly1280Asp) c.3725G>A (p.Gly1242Asp) c.3869G>A (p.Gly1290Asp) c.3644G>A (p.Gly1215Asp) n.197G>A c.208G>A | |
19 | g.7561036G>C | CA403138355 | PNPLA6 | c.3839G>C (p.Gly1280Ala) c.3725G>C (p.Gly1242Ala) c.3869G>C (p.Gly1290Ala) c.3644G>C (p.Gly1215Ala) n.197G>C c.208G>C | |
19 | g.7561036G>T | CA403138353 | PNPLA6 | c.3839G>T (p.Gly1280Val) c.3725G>T (p.Gly1242Val) c.3869G>T (p.Gly1290Val) c.3644G>T (p.Gly1215Val) n.197G>T c.208G>T | |
19 | g.7561037C>A | CA505404311 | PNPLA6 | c.3840C>A (p.Gly1280=) c.3726C>A (p.Gly1242=) c.3870C>A (p.Gly1290=) c.3645C>A (p.Gly1215=) n.198C>A c.209C>A | |
19 | g.7561037C>G | CA505404312 | PNPLA6 | c.3840C>G (p.Gly1280=) c.3726C>G (p.Gly1242=) c.3870C>G (p.Gly1290=) c.3645C>G (p.Gly1215=) n.198C>G c.209C>G | |
19 | g.7561037C>T | CA505404310 | PNPLA6 | c.3840C>T (p.Gly1280=) c.3726C>T (p.Gly1242=) c.3870C>T (p.Gly1290=) c.3645C>T (p.Gly1215=) n.198C>T c.209C>T | |
19 | g.7561038T>A | CA403138356 | PNPLA6 | c.3841T>A (p.Phe1281Ile) c.3727T>A (p.Phe1243Ile) c.3871T>A (p.Phe1291Ile) c.3646T>A (p.Phe1216Ile) n.199T>A c.210T>A | |
19 | g.7561038T>C | CA403138357 | PNPLA6 | c.3841T>C (p.Phe1281Leu) c.3727T>C (p.Phe1243Leu) c.3871T>C (p.Phe1291Leu) c.3646T>C (p.Phe1216Leu) n.199T>C c.210T>C | |
19 | g.7561038T>G | CA403138359 | PNPLA6 | c.3841T>G (p.Phe1281Val) c.3727T>G (p.Phe1243Val) c.3871T>G (p.Phe1291Val) c.3646T>G (p.Phe1216Val) n.199T>G c.210T>G | |
19 | g.7561039T>A | CA403138361 | PNPLA6 | c.3842T>A (p.Phe1281Tyr) c.3728T>A (p.Phe1243Tyr) c.3872T>A (p.Phe1291Tyr) c.3647T>A (p.Phe1216Tyr) n.200T>A c.211T>A | |
19 | g.7561039T>C | CA403138362 | PNPLA6 | c.3842T>C (p.Phe1281Ser) c.3728T>C (p.Phe1243Ser) c.3872T>C (p.Phe1291Ser) c.3647T>C (p.Phe1216Ser) n.200T>C c.211T>C | |
19 | g.7561039T>G | CA403138363 | PNPLA6 | c.3842T>G (p.Phe1281Cys) c.3728T>G (p.Phe1243Cys) c.3872T>G (p.Phe1291Cys) c.3647T>G (p.Phe1216Cys) n.200T>G c.211T>G | |
19 | g.7561040C>A | CA403138366 | PNPLA6 | c.3843C>A (p.Phe1281Leu) c.3729C>A (p.Phe1243Leu) c.3873C>A (p.Phe1291Leu) c.3648C>A (p.Phe1216Leu) n.201C>A c.212C>A | |
19 | g.7561040C>G | CA403138364 | PNPLA6 | c.3843C>G (p.Phe1281Leu) c.3729C>G (p.Phe1243Leu) c.3873C>G (p.Phe1291Leu) c.3648C>G (p.Phe1216Leu) n.201C>G c.212C>G | |
19 | g.7561040C>T | CA505404313 | PNPLA6 | c.3843C>T (p.Phe1281=) c.3729C>T (p.Phe1243=) c.3873C>T (p.Phe1291=) c.3648C>T (p.Phe1216=) n.201C>T c.212C>T | COSMIC COSMIC |
19 | g.7561041A>C | CA403138370 | PNPLA6 | c.3844A>C (p.Thr1282Pro) c.3730A>C (p.Thr1244Pro) c.3874A>C (p.Thr1292Pro) c.3649A>C (p.Thr1217Pro) n.202A>C c.213A>C | |
19 | g.7561041A>G | CA403138372 | PNPLA6 | c.3844A>G (p.Thr1282Ala) c.3730A>G (p.Thr1244Ala) c.3874A>G (p.Thr1292Ala) c.3649A>G (p.Thr1217Ala) n.202A>G c.213A>G | |
19 | g.7561041A>T | CA403138374 | PNPLA6 | c.3844A>T (p.Thr1282Ser) c.3730A>T (p.Thr1244Ser) c.3874A>T (p.Thr1292Ser) c.3649A>T (p.Thr1217Ser) n.202A>T c.213A>T | |
19 | g.7561042C>A | CA403138385 | PNPLA6 | c.3845C>A (p.Thr1282Asn) c.3731C>A (p.Thr1244Asn) c.3875C>A (p.Thr1292Asn) c.3650C>A (p.Thr1217Asn) n.203C>A c.214C>A | |
19 | g.7561042C= | CA2320979515 | PNPLA6 | c.3845C= (p.Thr1282=) c.3731C= (p.Thr1244=) c.3875C= (p.Thr1292=) c.3650C= (p.Thr1217=) n.203C= c.214C= | |
19 | g.7561042C>G | CA304883014 | PNPLA6 | c.3845C>G (p.Thr1282Ser) c.3731C>G (p.Thr1244Ser) c.3875C>G (p.Thr1292Ser) c.3650C>G (p.Thr1217Ser) n.203C>G c.214C>G | dbSNP |
19 | g.7561042C>T | CA403138395 | PNPLA6 | c.3845C>T (p.Thr1282Ile) c.3731C>T (p.Thr1244Ile) c.3875C>T (p.Thr1292Ile) c.3650C>T (p.Thr1217Ile) n.203C>T c.214C>T | |
19 | g.7561043T>A | CA505404315 | PNPLA6 | c.3846T>A (p.Thr1282=) c.3732T>A (p.Thr1244=) c.3876T>A (p.Thr1292=) c.3651T>A (p.Thr1217=) n.204T>A c.215T>A | |
19 | g.7561043T>C | CA505404316 | PNPLA6 | c.3846T>C (p.Thr1282=) c.3732T>C (p.Thr1244=) c.3876T>C (p.Thr1292=) c.3651T>C (p.Thr1217=) n.204T>C c.215T>C | gnomAD v4 |
19 | g.7561043T>G | CA505404314 | PNPLA6 | c.3846T>G (p.Thr1282=) c.3732T>G (p.Thr1244=) c.3876T>G (p.Thr1292=) c.3651T>G (p.Thr1217=) n.204T>G c.215T>G | |
19 | g.7561044G>A | CA403138397 | PNPLA6 | c.3847G>A (p.Asp1283Asn) c.3733G>A (p.Asp1245Asn) c.3877G>A (p.Asp1293Asn) c.3652G>A (p.Asp1218Asn) n.205G>A c.216G>A | |
19 | g.7561044G>C | CA403138403 | PNPLA6 | c.3847G>C (p.Asp1283His) c.3733G>C (p.Asp1245His) c.3877G>C (p.Asp1293His) c.3652G>C (p.Asp1218His) n.205G>C c.216G>C | |
19 | g.7561044G>T | CA403138400 | PNPLA6 | c.3847G>T (p.Asp1283Tyr) c.3733G>T (p.Asp1245Tyr) c.3877G>T (p.Asp1293Tyr) c.3652G>T (p.Asp1218Tyr) n.205G>T c.216G>T | |
19 | g.7561045A>C | CA403138408 | PNPLA6 | c.3848A>C (p.Asp1283Ala) c.3734A>C (p.Asp1245Ala) c.3878A>C (p.Asp1293Ala) c.3653A>C (p.Asp1218Ala) n.206A>C c.217A>C | |
19 | g.7561045A>G | CA403138410 | PNPLA6 | c.3848A>G (p.Asp1283Gly) c.3734A>G (p.Asp1245Gly) c.3878A>G (p.Asp1293Gly) c.3653A>G (p.Asp1218Gly) n.206A>G c.217A>G | |
19 | g.7561045A>T | CA403138412 | PNPLA6 | c.3848A>T (p.Asp1283Val) c.3734A>T (p.Asp1245Val) c.3878A>T (p.Asp1293Val) c.3653A>T (p.Asp1218Val) n.206A>T c.217A>T | |
19 | g.7561046C>A | CA403138414 | PNPLA6 | c.3849C>A (p.Asp1283Glu) c.3735C>A (p.Asp1245Glu) c.3879C>A (p.Asp1293Glu) c.3654C>A (p.Asp1218Glu) n.207C>A c.218C>A | |
19 | g.7561046C>G | CA403138420 | PNPLA6 | c.3849C>G (p.Asp1283Glu) c.3735C>G (p.Asp1245Glu) c.3879C>G (p.Asp1293Glu) c.3654C>G (p.Asp1218Glu) n.207C>G c.218C>G | |
19 | g.7561046C>T | CA505404317 | PNPLA6 | c.3849C>T (p.Asp1283=) c.3735C>T (p.Asp1245=) c.3879C>T (p.Asp1293=) c.3654C>T (p.Asp1218=) n.207C>T c.218C>T | |
19 | g.7561046_7561047delinsCT | CA2320979516 | PNPLA6 | c.3849_3850delinsCT (p.Asp1283=) c.3735_3736delinsCT (p.Asp1245=) c.3879_3880delinsCT (p.Asp1293=) c.3654_3655delinsCT (p.Asp1218=) n.207_208delinsCT c.218_219delinsCT | |
19 | g.7561046_7561048delinsCTT | CA2320979517 | PNPLA6 | c.3849_3851delinsCTT (p.Asp1283=) c.3735_3737delinsCTT (p.Asp1245=) c.3879_3881delinsCTT (p.Asp1293=) c.3654_3656delinsCTT (p.Asp1218=) n.207_209delinsCTT c.218_220delinsCTT | |
19 | g.7561047T>A | CA403138423 | PNPLA6 | c.3850T>A (p.Leu1284Met) c.3736T>A (p.Leu1246Met) c.3880T>A (p.Leu1294Met) c.3655T>A (p.Leu1219Met) n.208T>A c.219T>A | |
19 | g.7561047T>C | CA505404318 | PNPLA6 | c.3850T>C (p.Leu1284=) c.3736T>C (p.Leu1246=) c.3880T>C (p.Leu1294=) c.3655T>C (p.Leu1219=) n.208T>C c.219T>C | |
19 | g.7561047T>G | CA403138427 | PNPLA6 | c.3850T>G (p.Leu1284Val) c.3736T>G (p.Leu1246Val) c.3880T>G (p.Leu1294Val) c.3655T>G (p.Leu1219Val) n.208T>G c.219T>G | |
19 | g.7561047_7561048del | CA16043123 | PNPLA6 | c.3850_3851del (p.Leu1284GlyfsTer8) c.3736_3737del (p.Leu1246GlyfsTer8) c.3880_3881del (p.Leu1294GlyfsTer8) c.3655_3656del (p.Leu1219GlyfsTer8) n.208_209del c.219_220del | ClinVar dbSNP gnomAD v4 |
19 | g.7561048del | CA9140613 | PNPLA6 | c.3851del (p.Leu1284TrpfsTer28) c.3737del (p.Leu1246TrpfsTer28) c.3881del (p.Leu1294TrpfsTer28) c.3656del (p.Leu1219TrpfsTer28) n.209del c.220del | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7561048T>A | CA403138434 | PNPLA6 | c.3851T>A (p.Leu1284Ter) c.3737T>A (p.Leu1246Ter) c.3881T>A (p.Leu1294Ter) c.3656T>A (p.Leu1219Ter) n.209T>A c.220T>A | ClinVar dbSNP gnomAD v4 |
19 | g.7561048T>C | CA403138436 | PNPLA6 | c.3851T>C (p.Leu1284Ser) c.3737T>C (p.Leu1246Ser) c.3881T>C (p.Leu1294Ser) c.3656T>C (p.Leu1219Ser) n.209T>C c.220T>C | |
19 | g.7561048T>G | CA403138441 | PNPLA6 | c.3851T>G (p.Leu1284Trp) c.3737T>G (p.Leu1246Trp) c.3881T>G (p.Leu1294Trp) c.3656T>G (p.Leu1219Trp) n.209T>G c.220T>G | |
19 | g.7561048T= | CA2320979518 | PNPLA6 | c.3851T= (p.Leu1284=) c.3737T= (p.Leu1246=) c.3881T= (p.Leu1294=) c.3656T= (p.Leu1219=) n.209T= c.220T= | |
19 | g.7561049G>A | CA505404319 | PNPLA6 | c.3852G>A (p.Leu1284=) c.3738G>A (p.Leu1246=) c.3882G>A (p.Leu1294=) c.3657G>A (p.Leu1219=) n.210G>A c.221G>A | |
19 | g.7561049G>C | CA403138445 | PNPLA6 | c.3852G>C (p.Leu1284Phe) c.3738G>C (p.Leu1246Phe) c.3882G>C (p.Leu1294Phe) c.3657G>C (p.Leu1219Phe) n.210G>C c.221G>C | |
19 | g.7561049G>T | CA403138444 | PNPLA6 | c.3852G>T (p.Leu1284Phe) c.3738G>T (p.Leu1246Phe) c.3882G>T (p.Leu1294Phe) c.3657G>T (p.Leu1219Phe) n.210G>T c.221G>T | |
19 | g.7561050G>A | CA403138449 | PNPLA6 | c.3853G>A (p.Ala1285Thr) c.3739G>A (p.Ala1247Thr) c.3883G>A (p.Ala1295Thr) c.3658G>A (p.Ala1220Thr) n.211G>A c.222G>A | gnomAD v4 |
19 | g.7561050G>C | CA403138456 | PNPLA6 | c.3853G>C (p.Ala1285Pro) c.3739G>C (p.Ala1247Pro) c.3883G>C (p.Ala1295Pro) c.3658G>C (p.Ala1220Pro) n.211G>C c.222G>C | |
19 | g.7561050G>T | CA403138454 | PNPLA6 | c.3853G>T (p.Ala1285Ser) c.3739G>T (p.Ala1247Ser) c.3883G>T (p.Ala1295Ser) c.3658G>T (p.Ala1220Ser) n.211G>T c.222G>T | |
19 | g.7561051C>A | CA403138458 | PNPLA6 | c.3854C>A (p.Ala1285Glu) c.3740C>A (p.Ala1247Glu) c.3884C>A (p.Ala1295Glu) c.3659C>A (p.Ala1220Glu) n.212C>A c.223C>A | |
19 | g.7561051C>G | CA403138463 | PNPLA6 | c.3854C>G (p.Ala1285Gly) c.3740C>G (p.Ala1247Gly) c.3884C>G (p.Ala1295Gly) c.3659C>G (p.Ala1220Gly) n.212C>G c.223C>G | |
19 | g.7561051C>T | CA403138466 | PNPLA6 | c.3854C>T (p.Ala1285Val) c.3740C>T (p.Ala1247Val) c.3884C>T (p.Ala1295Val) c.3659C>T (p.Ala1220Val) n.212C>T c.223C>T | gnomAD v4 COSMIC COSMIC |
19 | g.7561052A>C | CA505404320 | PNPLA6 | c.3855A>C (p.Ala1285=) c.3741A>C (p.Ala1247=) c.3885A>C (p.Ala1295=) c.3660A>C (p.Ala1220=) n.213A>C c.224A>C | |
19 | g.7561052A>G | CA505404321 | PNPLA6 | c.3855A>G (p.Ala1285=) c.3741A>G (p.Ala1247=) c.3885A>G (p.Ala1295=) c.3660A>G (p.Ala1220=) n.213A>G c.224A>G | |
19 | g.7561052A>T | CA505404322 | PNPLA6 | c.3855A>T (p.Ala1285=) c.3741A>T (p.Ala1247=) c.3885A>T (p.Ala1295=) c.3660A>T (p.Ala1220=) n.213A>T c.224A>T | |
19 | g.7561053G>A | CA403138471 | PNPLA6 | c.3856G>A (p.Glu1286Lys) c.3742G>A (p.Glu1248Lys) c.3886G>A (p.Glu1296Lys) c.3661G>A (p.Glu1221Lys) n.214G>A c.225G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7561053G>C | CA403138472 | PNPLA6 | c.3856G>C (p.Glu1286Gln) c.3742G>C (p.Glu1248Gln) c.3886G>C (p.Glu1296Gln) c.3661G>C (p.Glu1221Gln) n.214G>C c.225G>C | gnomAD v4 |
19 | g.7561053G= | CA2320979519 | PNPLA6 | c.3856G= (p.Glu1286=) c.3742G= (p.Glu1248=) c.3886G= (p.Glu1296=) c.3661G= (p.Glu1221=) n.214G= c.225G= | |
19 | g.7561053G>T | CA403138476 | PNPLA6 | c.3856G>T (p.Glu1286Ter) c.3742G>T (p.Glu1248Ter) c.3886G>T (p.Glu1296Ter) c.3661G>T (p.Glu1221Ter) n.214G>T c.225G>T | |
19 | g.7561054A>C | CA403138479 | PNPLA6 | c.3857A>C (p.Glu1286Ala) c.3743A>C (p.Glu1248Ala) c.3887A>C (p.Glu1296Ala) c.3662A>C (p.Glu1221Ala) n.215A>C c.226A>C | |
19 | g.7561054A>G | CA403138483 | PNPLA6 | c.3857A>G (p.Glu1286Gly) c.3743A>G (p.Glu1248Gly) c.3887A>G (p.Glu1296Gly) c.3662A>G (p.Glu1221Gly) n.215A>G c.226A>G | |
19 | g.7561054A>T | CA403138489 | PNPLA6 | c.3857A>T (p.Glu1286Val) c.3743A>T (p.Glu1248Val) c.3887A>T (p.Glu1296Val) c.3662A>T (p.Glu1221Val) n.215A>T c.226A>T | |
19 | g.7561055G>A | CA505404323 | PNPLA6 | c.3858G>A (p.Glu1286=) c.3744G>A (p.Glu1248=) c.3888G>A (p.Glu1296=) c.3663G>A (p.Glu1221=) n.216G>A c.227G>A | gnomAD v4 |
19 | g.7561055G>C | CA403138491 | PNPLA6 | c.3858G>C (p.Glu1286Asp) c.3744G>C (p.Glu1248Asp) c.3888G>C (p.Glu1296Asp) c.3663G>C (p.Glu1221Asp) n.216G>C c.227G>C | COSMIC COSMIC |
19 | g.7561055G>T | CA403138494 | PNPLA6 | c.3858G>T (p.Glu1286Asp) c.3744G>T (p.Glu1248Asp) c.3888G>T (p.Glu1296Asp) c.3663G>T (p.Glu1221Asp) n.216G>T c.227G>T | |
19 | g.7561056A>C | CA403138501 | PNPLA6 | c.3859A>C (p.Ile1287Leu) c.3745A>C (p.Ile1249Leu) c.3889A>C (p.Ile1297Leu) c.3664A>C (p.Ile1222Leu) n.217A>C c.228A>C | |
19 | g.7561056A>G | CA403138499 | PNPLA6 | c.3859A>G (p.Ile1287Val) c.3745A>G (p.Ile1249Val) c.3889A>G (p.Ile1297Val) c.3664A>G (p.Ile1222Val) n.217A>G c.228A>G | |
19 | g.7561056A>T | CA403138497 | PNPLA6 | c.3859A>T (p.Ile1287Phe) c.3745A>T (p.Ile1249Phe) c.3889A>T (p.Ile1297Phe) c.3664A>T (p.Ile1222Phe) n.217A>T c.228A>T | |
19 | g.7561057T>A | CA403138504 | PNPLA6 | c.3860T>A (p.Ile1287Asn) c.3746T>A (p.Ile1249Asn) c.3890T>A (p.Ile1297Asn) c.3665T>A (p.Ile1222Asn) n.218T>A c.229T>A | |
19 | g.7561057T>C | CA403138505 | PNPLA6 | c.3860T>C (p.Ile1287Thr) c.3746T>C (p.Ile1249Thr) c.3890T>C (p.Ile1297Thr) c.3665T>C (p.Ile1222Thr) n.218T>C c.229T>C | |
19 | g.7561057T>G | CA403138506 | PNPLA6 | c.3860T>G (p.Ile1287Ser) c.3746T>G (p.Ile1249Ser) c.3890T>G (p.Ile1297Ser) c.3665T>G (p.Ile1222Ser) n.218T>G c.229T>G | |
19 | g.7561058T>A | CA505404324 | PNPLA6 | c.3861T>A (p.Ile1287=) c.3747T>A (p.Ile1249=) c.3891T>A (p.Ile1297=) c.3666T>A (p.Ile1222=) n.219T>A c.230T>A | |
19 | g.7561058T>C | CA505404325 | PNPLA6 | c.3861T>C (p.Ile1287=) c.3747T>C (p.Ile1249=) c.3891T>C (p.Ile1297=) c.3666T>C (p.Ile1222=) n.219T>C c.230T>C | |
19 | g.7561058T>G | CA403138507 | PNPLA6 | c.3861T>G (p.Ile1287Met) c.3747T>G (p.Ile1249Met) c.3891T>G (p.Ile1297Met) c.3666T>G (p.Ile1222Met) n.219T>G c.230T>G | |
19 | g.7561059G>A | CA403138509 | PNPLA6 | c.3862G>A (p.Val1288Met) c.3748G>A (p.Val1250Met) c.3892G>A (p.Val1298Met) c.3667G>A (p.Val1223Met) n.220G>A c.231G>A | gnomAD v4 |
19 | g.7561059G>C | CA403138511 | PNPLA6 | c.3862G>C (p.Val1288Leu) c.3748G>C (p.Val1250Leu) c.3892G>C (p.Val1298Leu) c.3667G>C (p.Val1223Leu) n.220G>C c.231G>C | |
19 | g.7561059G= | CA2320979520 | PNPLA6 | c.3862G= (p.Val1288=) c.3748G= (p.Val1250=) c.3892G= (p.Val1298=) c.3667G= (p.Val1223=) n.220G= c.231G= | |
19 | g.7561059G>T | CA9140614 | PNPLA6 | c.3862G>T (p.Val1288Leu) c.3748G>T (p.Val1250Leu) c.3892G>T (p.Val1298Leu) c.3667G>T (p.Val1223Leu) n.220G>T c.231G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7561060T>A | CA403138515 | PNPLA6 | c.3863T>A (p.Val1288Glu) c.3749T>A (p.Val1250Glu) c.3893T>A (p.Val1298Glu) c.3668T>A (p.Val1223Glu) n.221T>A c.232T>A | |
19 | g.7561060T>C | CA403138517 | PNPLA6 | c.3863T>C (p.Val1288Ala) c.3749T>C (p.Val1250Ala) c.3893T>C (p.Val1298Ala) c.3668T>C (p.Val1223Ala) n.221T>C c.232T>C | |
19 | g.7561060T>G | CA403138521 | PNPLA6 | c.3863T>G (p.Val1288Gly) c.3749T>G (p.Val1250Gly) c.3893T>G (p.Val1298Gly) c.3668T>G (p.Val1223Gly) n.221T>G c.232T>G | |
19 | g.7561061G>A | CA505404326 | PNPLA6 | c.3864G>A (p.Val1288=) c.3750G>A (p.Val1250=) c.3894G>A (p.Val1298=) c.3669G>A (p.Val1223=) n.222G>A c.233G>A | gnomAD v4 |
19 | g.7561061G>C | CA505404327 | PNPLA6 | c.3864G>C (p.Val1288=) c.3750G>C (p.Val1250=) c.3894G>C (p.Val1298=) c.3669G>C (p.Val1223=) n.222G>C c.233G>C | |
19 | g.7561061G= | CA2320979521 | PNPLA6 | c.3864G= (p.Val1288=) c.3750G= (p.Val1250=) c.3894G= (p.Val1298=) c.3669G= (p.Val1223=) n.222G= c.233G= | |
19 | g.7561061G>T | CA505404328 | PNPLA6 | c.3864G>T (p.Val1288=) c.3750G>T (p.Val1250=) c.3894G>T (p.Val1298=) c.3669G>T (p.Val1223=) n.222G>T c.233G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.7561062T>A | CA403138523 | PNPLA6 | c.3865T>A (p.Ser1289Thr) c.3751T>A (p.Ser1251Thr) c.3895T>A (p.Ser1299Thr) c.3670T>A (p.Ser1224Thr) n.223T>A c.234T>A | |
19 | g.7561062T>C | CA403138524 | PNPLA6 | c.3865T>C (p.Ser1289Pro) c.3751T>C (p.Ser1251Pro) c.3895T>C (p.Ser1299Pro) c.3670T>C (p.Ser1224Pro) n.223T>C c.234T>C | gnomAD v4 |
19 | g.7561062T>G | CA403138531 | PNPLA6 | c.3865T>G (p.Ser1289Ala) c.3751T>G (p.Ser1251Ala) c.3895T>G (p.Ser1299Ala) c.3670T>G (p.Ser1224Ala) n.223T>G c.234T>G | |
19 | g.7561063C>A | CA403138538 | PNPLA6 | c.3866C>A (p.Ser1289Tyr) c.3752C>A (p.Ser1251Tyr) c.3896C>A (p.Ser1299Tyr) c.3671C>A (p.Ser1224Tyr) n.224C>A c.235C>A | |
19 | g.7561063C= | CA2320979522 | PNPLA6 | c.3866C= (p.Ser1289=) c.3752C= (p.Ser1251=) c.3896C= (p.Ser1299=) c.3671C= (p.Ser1224=) n.224C= c.235C= | |
19 | g.7561063C>G | CA403138536 | PNPLA6 | c.3866C>G (p.Ser1289Cys) c.3752C>G (p.Ser1251Cys) c.3896C>G (p.Ser1299Cys) c.3671C>G (p.Ser1224Cys) n.224C>G c.235C>G | |
19 | g.7561063C>T | CA403138534 | PNPLA6 | c.3866C>T (p.Ser1289Phe) c.3752C>T (p.Ser1251Phe) c.3896C>T (p.Ser1299Phe) c.3671C>T (p.Ser1224Phe) n.224C>T c.235C>T | dbSNP gnomAD v2 |
19 | g.7561064C>A | CA505404330 | PNPLA6 | c.3867C>A (p.Ser1289=) c.3753C>A (p.Ser1251=) c.3897C>A (p.Ser1299=) c.3672C>A (p.Ser1224=) n.225C>A c.236C>A | |
19 | g.7561064C>G | CA505404331 | PNPLA6 | c.3867C>G (p.Ser1289=) c.3753C>G (p.Ser1251=) c.3897C>G (p.Ser1299=) c.3672C>G (p.Ser1224=) n.225C>G c.236C>G | |
19 | g.7561064C>T | CA505404329 | PNPLA6 | c.3867C>T (p.Ser1289=) c.3753C>T (p.Ser1251=) c.3897C>T (p.Ser1299=) c.3672C>T (p.Ser1224=) n.225C>T c.236C>T | |
19 | g.7561065C>A | CA505404332 | PNPLA6 | c.3868C>A (p.Arg1290=) c.3754C>A (p.Arg1252=) c.3898C>A (p.Arg1300=) c.3673C>A (p.Arg1225=) n.226C>A c.237C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7561065C= | CA2320979523 | PNPLA6 | c.3868C= (p.Arg1290=) c.3754C= (p.Arg1252=) c.3898C= (p.Arg1300=) c.3673C= (p.Arg1225=) n.226C= c.237C= | |
19 | g.7561065C>G | CA403138542 | PNPLA6 | c.3868C>G (p.Arg1290Gly) c.3754C>G (p.Arg1252Gly) c.3898C>G (p.Arg1300Gly) c.3673C>G (p.Arg1225Gly) n.226C>G c.237C>G | |
19 | g.7561065C>T | CA9140615 | PNPLA6 | c.3868C>T (p.Arg1290Trp) c.3754C>T (p.Arg1252Trp) c.3898C>T (p.Arg1300Trp) c.3673C>T (p.Arg1225Trp) n.226C>T c.237C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7561066G>A | CA9140616 | PNPLA6 | c.3869G>A (p.Arg1290Gln) c.3755G>A (p.Arg1252Gln) c.3899G>A (p.Arg1300Gln) c.3674G>A (p.Arg1225Gln) n.227G>A c.238G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7561066G>C | CA403138545 | PNPLA6 | c.3869G>C (p.Arg1290Pro) c.3755G>C (p.Arg1252Pro) c.3899G>C (p.Arg1300Pro) c.3674G>C (p.Arg1225Pro) n.227G>C c.238G>C | |
19 | g.7561066G= | CA2320979524 | PNPLA6 | c.3869G= (p.Arg1290=) c.3755G= (p.Arg1252=) c.3899G= (p.Arg1300=) c.3674G= (p.Arg1225=) n.227G= c.238G= | |
19 | g.7561066G>T | CA403138548 | PNPLA6 | c.3869G>T (p.Arg1290Leu) c.3755G>T (p.Arg1252Leu) c.3899G>T (p.Arg1300Leu) c.3674G>T (p.Arg1225Leu) n.227G>T c.238G>T | |
19 | g.7561067G>A | CA505404333 | PNPLA6 | c.3870G>A (p.Arg1290=) c.3756G>A (p.Arg1252=) c.3900G>A (p.Arg1300=) c.3675G>A (p.Arg1225=) n.228G>A c.239G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7561067G>C | CA505404334 | PNPLA6 | c.3870G>C (p.Arg1290=) c.3756G>C (p.Arg1252=) c.3900G>C (p.Arg1300=) c.3675G>C (p.Arg1225=) n.228G>C c.239G>C | gnomAD v4 |
19 | g.7561067G= | CA2320979525 | PNPLA6 | c.3870G= (p.Arg1290=) c.3756G= (p.Arg1252=) c.3900G= (p.Arg1300=) c.3675G= (p.Arg1225=) n.228G= c.239G= | |
19 | g.7561067G>T | CA505404335 | PNPLA6 | c.3870G>T (p.Arg1290=) c.3756G>T (p.Arg1252=) c.3900G>T (p.Arg1300=) c.3675G>T (p.Arg1225=) n.228G>T c.239G>T | |
19 | g.7561068A>C | CA403138550 | PNPLA6 | c.3871A>C (p.Ile1291Leu) c.3757A>C (p.Ile1253Leu) c.3901A>C (p.Ile1301Leu) c.3676A>C (p.Ile1226Leu) n.229A>C c.240A>C | |
19 | g.7561068A>G | CA403138551 | PNPLA6 | c.3871A>G (p.Ile1291Val) c.3757A>G (p.Ile1253Val) c.3901A>G (p.Ile1301Val) c.3676A>G (p.Ile1226Val) n.229A>G c.240A>G | |
19 | g.7561068A>T | CA403138552 | PNPLA6 | c.3871A>T (p.Ile1291Phe) c.3757A>T (p.Ile1253Phe) c.3901A>T (p.Ile1301Phe) c.3676A>T (p.Ile1226Phe) n.229A>T c.240A>T | |
19 | g.7561069T>A | CA403138556 | PNPLA6 | c.3872T>A (p.Ile1291Asn) c.3758T>A (p.Ile1253Asn) c.3902T>A (p.Ile1301Asn) c.3677T>A (p.Ile1226Asn) n.230T>A c.241T>A | |
19 | g.7561069T>C | CA403138561 | PNPLA6 | c.3872T>C (p.Ile1291Thr) c.3758T>C (p.Ile1253Thr) c.3902T>C (p.Ile1301Thr) c.3677T>C (p.Ile1226Thr) n.230T>C c.241T>C | |
19 | g.7561069T>G | CA403138559 | PNPLA6 | c.3872T>G (p.Ile1291Ser) c.3758T>G (p.Ile1253Ser) c.3902T>G (p.Ile1301Ser) c.3677T>G (p.Ile1226Ser) n.230T>G c.241T>G | |
19 | g.7561070T>A | CA505404336 | PNPLA6 | c.3873T>A (p.Ile1291=) c.3759T>A (p.Ile1253=) c.3903T>A (p.Ile1301=) c.3678T>A (p.Ile1226=) n.231T>A c.242T>A | |
19 | g.7561070T>C | CA505404337 | PNPLA6 | c.3873T>C (p.Ile1291=) c.3759T>C (p.Ile1253=) c.3903T>C (p.Ile1301=) c.3678T>C (p.Ile1226=) n.231T>C c.242T>C | |
19 | g.7561070T>G | CA403138564 | PNPLA6 | c.3873T>G (p.Ile1291Met) c.3759T>G (p.Ile1253Met) c.3903T>G (p.Ile1301Met) c.3678T>G (p.Ile1226Met) n.231T>G c.242T>G | |
19 | g.7561071G>A | CA403138574 | PNPLA6 | c.3874G>A (p.Glu1292Lys) c.3760G>A (p.Glu1254Lys) c.3904G>A (p.Glu1302Lys) c.3679G>A (p.Glu1227Lys) n.232G>A c.243G>A | |
19 | g.7561071G>C | CA403138576 | PNPLA6 | c.3874G>C (p.Glu1292Gln) c.3760G>C (p.Glu1254Gln) c.3904G>C (p.Glu1302Gln) c.3679G>C (p.Glu1227Gln) n.232G>C c.243G>C | |
19 | g.7561071G>T | CA403138580 | PNPLA6 | c.3874G>T (p.Glu1292Ter) c.3760G>T (p.Glu1254Ter) c.3904G>T (p.Glu1302Ter) c.3679G>T (p.Glu1227Ter) n.232G>T c.243G>T | |
19 | g.7561072A>C | CA403138583 | PNPLA6 | c.3875A>C (p.Glu1292Ala) c.3761A>C (p.Glu1254Ala) c.3905A>C (p.Glu1302Ala) c.3680A>C (p.Glu1227Ala) n.233A>C c.244A>C | |
19 | g.7561072A>G | CA403138587 | PNPLA6 | c.3875A>G (p.Glu1292Gly) c.3761A>G (p.Glu1254Gly) c.3905A>G (p.Glu1302Gly) c.3680A>G (p.Glu1227Gly) n.233A>G c.244A>G | |
19 | g.7561072A>T | CA403138584 | PNPLA6 | c.3875A>T (p.Glu1292Val) c.3761A>T (p.Glu1254Val) c.3905A>T (p.Glu1302Val) c.3680A>T (p.Glu1227Val) n.233A>T c.244A>T | |
19 | g.7561073G>A | CA505404338 | PNPLA6 | c.3876G>A (p.Glu1292=) c.3762G>A (p.Glu1254=) c.3906G>A (p.Glu1302=) c.3681G>A (p.Glu1227=) n.234G>A c.245G>A | |
19 | g.7561073G>C | CA9140617 | PNPLA6 | c.3876G>C (p.Glu1292Asp) c.3762G>C (p.Glu1254Asp) c.3906G>C (p.Glu1302Asp) c.3681G>C (p.Glu1227Asp) n.234G>C c.245G>C | ClinVar dbSNP ExAC gnomAD v2 |
19 | g.7561073G= | CA2320979526 | PNPLA6 | c.3876G= (p.Glu1292=) c.3762G= (p.Glu1254=) c.3906G= (p.Glu1302=) c.3681G= (p.Glu1227=) n.234G= c.245G= | |
19 | g.7561073G>T | CA403138590 | PNPLA6 | c.3876G>T (p.Glu1292Asp) c.3762G>T (p.Glu1254Asp) c.3906G>T (p.Glu1302Asp) c.3681G>T (p.Glu1227Asp) n.234G>T c.245G>T | gnomAD v4 |
19 | g.7561074C>A | CA403138594 | PNPLA6 | c.3877C>A (p.Pro1293Thr) c.3763C>A (p.Pro1255Thr) c.3907C>A (p.Pro1303Thr) c.3682C>A (p.Pro1228Thr) n.235C>A c.246C>A | gnomAD v4 |
19 | g.7561074C= | CA2320979527 | PNPLA6 | c.3877C= (p.Pro1293=) c.3763C= (p.Pro1255=) c.3907C= (p.Pro1303=) c.3682C= (p.Pro1228=) n.235C= c.246C= | |
19 | g.7561074C>G | CA403138597 | PNPLA6 | c.3877C>G (p.Pro1293Ala) c.3763C>G (p.Pro1255Ala) c.3907C>G (p.Pro1303Ala) c.3682C>G (p.Pro1228Ala) n.235C>G c.246C>G | |
19 | g.7561074C>T | CA403138599 | PNPLA6 | c.3877C>T (p.Pro1293Ser) c.3763C>T (p.Pro1255Ser) c.3907C>T (p.Pro1303Ser) c.3682C>T (p.Pro1228Ser) n.235C>T c.246C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7561079dup | CA9140618 | PNPLA6 | c.3882dup (p.Thr1295HisfsTer6) c.3768dup (p.Thr1257HisfsTer6) c.3912dup (p.Thr1305HisfsTer6) c.3687dup (p.Thr1230HisfsTer6) n.240dup c.251dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7561079del | CA505404339 | PNPLA6 | c.3882del (p.Thr1295ArgfsTer17) c.3768del (p.Thr1257ArgfsTer17) c.3912del (p.Thr1305ArgfsTer17) c.3687del (p.Thr1230ArgfsTer17) n.240del c.251del | ClinVar gnomAD v4 COSMIC COSMIC |
19 | g.7561075C>A | CA403138601 | PNPLA6 | c.3878C>A (p.Pro1293His) c.3764C>A (p.Pro1255His) c.3908C>A (p.Pro1303His) c.3683C>A (p.Pro1228His) n.236C>A c.247C>A | |
19 | g.7561075C= | CA2320979528 | PNPLA6 | c.3878C= (p.Pro1293=) c.3764C= (p.Pro1255=) c.3908C= (p.Pro1303=) c.3683C= (p.Pro1228=) n.236C= c.247C= | |
19 | g.7561075C>G | CA403138605 | PNPLA6 | c.3878C>G (p.Pro1293Arg) c.3764C>G (p.Pro1255Arg) c.3908C>G (p.Pro1303Arg) c.3683C>G (p.Pro1228Arg) n.236C>G c.247C>G | |
19 | g.7561075C>T | CA403138608 | PNPLA6 | c.3878C>T (p.Pro1293Leu) c.3764C>T (p.Pro1255Leu) c.3908C>T (p.Pro1303Leu) c.3683C>T (p.Pro1228Leu) n.236C>T c.247C>T | dbSNP gnomAD v2 |
19 | g.7561076C>A | CA505404340 | PNPLA6 | c.3879C>A (p.Pro1293=) c.3765C>A (p.Pro1255=) c.3909C>A (p.Pro1303=) c.3684C>A (p.Pro1228=) n.237C>A c.248C>A | |
19 | g.7561076C= | CA2320979529 | PNPLA6 | c.3879C= (p.Pro1293=) c.3765C= (p.Pro1255=) c.3909C= (p.Pro1303=) c.3684C= (p.Pro1228=) n.237C= c.248C= | |
19 | g.7561076C>G | CA505404341 | PNPLA6 | c.3879C>G (p.Pro1293=) c.3765C>G (p.Pro1255=) c.3909C>G (p.Pro1303=) c.3684C>G (p.Pro1228=) n.237C>G c.248C>G | ClinVar dbSNP gnomAD v4 |
19 | g.7561076C>T | CA505404342 | PNPLA6 | c.3879C>T (p.Pro1293=) c.3765C>T (p.Pro1255=) c.3909C>T (p.Pro1303=) c.3684C>T (p.Pro1228=) n.237C>T c.248C>T | |
19 | g.7561077C>A | CA403138612 | PNPLA6 | c.3880C>A (p.Pro1294Thr) c.3766C>A (p.Pro1256Thr) c.3910C>A (p.Pro1304Thr) c.3685C>A (p.Pro1229Thr) n.238C>A c.249C>A | |
19 | g.7561077C= | CA2320979530 | PNPLA6 | c.3880C= (p.Pro1294=) c.3766C= (p.Pro1256=) c.3910C= (p.Pro1304=) c.3685C= (p.Pro1229=) n.238C= c.249C= | |
19 | g.7561077C>G | CA403138613 | PNPLA6 | c.3880C>G (p.Pro1294Ala) c.3766C>G (p.Pro1256Ala) c.3910C>G (p.Pro1304Ala) c.3685C>G (p.Pro1229Ala) n.238C>G c.249C>G | |
19 | g.7561077C>T | CA304883023 | PNPLA6 | c.3880C>T (p.Pro1294Ser) c.3766C>T (p.Pro1256Ser) c.3910C>T (p.Pro1304Ser) c.3685C>T (p.Pro1229Ser) n.238C>T c.249C>T | dbSNP |
19 | g.7561078C>A | CA403138620 | PNPLA6 | c.3881C>A (p.Pro1294His) c.3767C>A (p.Pro1256His) c.3911C>A (p.Pro1304His) c.3686C>A (p.Pro1229His) n.239C>A c.250C>A | |
19 | g.7561078C= | CA2320979531 | PNPLA6 | c.3881C= (p.Pro1294=) c.3767C= (p.Pro1256=) c.3911C= (p.Pro1304=) c.3686C= (p.Pro1229=) n.239C= c.250C= | |
19 | g.7561078C>G | CA403138623 | PNPLA6 | c.3881C>G (p.Pro1294Arg) c.3767C>G (p.Pro1256Arg) c.3911C>G (p.Pro1304Arg) c.3686C>G (p.Pro1229Arg) n.239C>G c.250C>G | |
19 | g.7561078C>T | CA403138619 | PNPLA6 | c.3881C>T (p.Pro1294Leu) c.3767C>T (p.Pro1256Leu) c.3911C>T (p.Pro1304Leu) c.3686C>T (p.Pro1229Leu) n.239C>T c.250C>T | ClinVar dbSNP gnomAD v4 |
19 | g.7561079C>A | CA505404343 | PNPLA6 | c.3882C>A (p.Pro1294=) c.3768C>A (p.Pro1256=) c.3912C>A (p.Pro1304=) c.3687C>A (p.Pro1229=) n.240C>A c.251C>A | |
19 | g.7561079C= | CA2320979532 | PNPLA6 | c.3882C= (p.Pro1294=) c.3768C= (p.Pro1256=) c.3912C= (p.Pro1304=) c.3687C= (p.Pro1229=) n.240C= c.251C= | |
19 | g.7561079C>G | CA9140620 | PNPLA6 | c.3882C>G (p.Pro1294=) c.3768C>G (p.Pro1256=) c.3912C>G (p.Pro1304=) c.3687C>G (p.Pro1229=) n.240C>G c.251C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7561079C>T | CA9140619 | PNPLA6 | c.3882C>T (p.Pro1294=) c.3768C>T (p.Pro1256=) c.3912C>T (p.Pro1304=) c.3687C>T (p.Pro1229=) n.240C>T c.251C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7561080A>C | CA403138629 | PNPLA6 | c.3883A>C (p.Thr1295Pro) c.3769A>C (p.Thr1257Pro) c.3913A>C (p.Thr1305Pro) c.3688A>C (p.Thr1230Pro) n.241A>C c.252A>C | |
19 | g.7561080A>G | CA403138631 | PNPLA6 | c.3883A>G (p.Thr1295Ala) c.3769A>G (p.Thr1257Ala) c.3913A>G (p.Thr1305Ala) c.3688A>G (p.Thr1230Ala) n.241A>G c.252A>G | ClinVar dbSNP |
19 | g.7561080A>T | CA403138633 | PNPLA6 | c.3883A>T (p.Thr1295Ser) c.3769A>T (p.Thr1257Ser) c.3913A>T (p.Thr1305Ser) c.3688A>T (p.Thr1230Ser) n.241A>T c.252A>T | gnomAD v4 |
19 | g.7561081C>A | CA403138638 | PNPLA6 | c.3884C>A (p.Thr1295Lys) c.3770C>A (p.Thr1257Lys) c.3914C>A (p.Thr1305Lys) c.3689C>A (p.Thr1230Lys) n.242C>A c.253C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7561081C= | CA2320979533 | PNPLA6 | c.3884C= (p.Thr1295=) c.3770C= (p.Thr1257=) c.3914C= (p.Thr1305=) c.3689C= (p.Thr1230=) n.242C= c.253C= | |
19 | g.7561081C>G | CA403138640 | PNPLA6 | c.3884C>G (p.Thr1295Arg) c.3770C>G (p.Thr1257Arg) c.3914C>G (p.Thr1305Arg) c.3689C>G (p.Thr1230Arg) n.242C>G c.253C>G | ClinVar |
19 | g.7561081C>T | CA9140621 | PNPLA6 | c.3884C>T (p.Thr1295Met) c.3770C>T (p.Thr1257Met) c.3914C>T (p.Thr1305Met) c.3689C>T (p.Thr1230Met) n.242C>T c.253C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7561082G>A | CA9140622 | PNPLA6 | c.3885G>A (p.Thr1295=) c.3771G>A (p.Thr1257=) c.3915G>A (p.Thr1305=) c.3690G>A (p.Thr1230=) n.243G>A c.254G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7561082G>C | CA505404344 | PNPLA6 | c.3885G>C (p.Thr1295=) c.3771G>C (p.Thr1257=) c.3915G>C (p.Thr1305=) c.3690G>C (p.Thr1230=) n.243G>C c.254G>C | |
19 | g.7561082G= | CA2320979534 | PNPLA6 | c.3885G= (p.Thr1295=) c.3771G= (p.Thr1257=) c.3915G= (p.Thr1305=) c.3690G= (p.Thr1230=) n.243G= c.254G= | |
19 | g.7561082G>T | CA505404345 | PNPLA6 | c.3885G>T (p.Thr1295=) c.3771G>T (p.Thr1257=) c.3915G>T (p.Thr1305=) c.3690G>T (p.Thr1230=) n.243G>T c.254G>T | |
19 | g.7561082dup | CA2499225642 | PNPLA6 | c.3885dup (p.Ser1296GlufsTer5) c.3771dup (p.Ser1258GlufsTer5) c.3915dup (p.Ser1306GlufsTer5) c.3690dup (p.Ser1231GlufsTer5) n.243dup c.254dup | ClinVar dbSNP |
19 | g.7561083A>C | CA403138657 | PNPLA6 | c.3886A>C (p.Ser1296Arg) c.3772A>C (p.Ser1258Arg) c.3916A>C (p.Ser1306Arg) c.3691A>C (p.Ser1231Arg) n.244A>C c.255A>C | |
19 | g.7561083A>G | CA403138659 | PNPLA6 | c.3886A>G (p.Ser1296Gly) c.3772A>G (p.Ser1258Gly) c.3916A>G (p.Ser1306Gly) c.3691A>G (p.Ser1231Gly) n.244A>G c.255A>G | |
19 | g.7561083A>T | CA403138662 | PNPLA6 | c.3886A>T (p.Ser1296Cys) c.3772A>T (p.Ser1258Cys) c.3916A>T (p.Ser1306Cys) c.3691A>T (p.Ser1231Cys) n.244A>T c.255A>T | |
19 | g.7561084G>A | CA9140623 | PNPLA6 | c.3887G>A (p.Ser1296Asn) c.3773G>A (p.Ser1258Asn) c.3917G>A (p.Ser1306Asn) c.3692G>A (p.Ser1231Asn) n.245G>A c.256G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7561084G>C | CA403138667 | PNPLA6 | c.3887G>C (p.Ser1296Thr) c.3773G>C (p.Ser1258Thr) c.3917G>C (p.Ser1306Thr) c.3692G>C (p.Ser1231Thr) n.245G>C c.256G>C | |
19 | g.7561084G= | CA2320979535 | PNPLA6 | c.3887G= (p.Ser1296=) c.3773G= (p.Ser1258=) c.3917G= (p.Ser1306=) c.3692G= (p.Ser1231=) n.245G= c.256G= | |
19 | g.7561084G>T | CA403138670 | PNPLA6 | c.3887G>T (p.Ser1296Ile) c.3773G>T (p.Ser1258Ile) c.3917G>T (p.Ser1306Ile) c.3692G>T (p.Ser1231Ile) n.245G>T c.256G>T | |
19 | g.7561085C>A | CA403138672 | PNPLA6 | c.3888C>A (p.Ser1296Arg) c.3774C>A (p.Ser1258Arg) c.3918C>A (p.Ser1306Arg) c.3693C>A (p.Ser1231Arg) n.246C>A c.257C>A | |
19 | g.7561085C>G | CA403138674 | PNPLA6 | c.3888C>G (p.Ser1296Arg) c.3774C>G (p.Ser1258Arg) c.3918C>G (p.Ser1306Arg) c.3693C>G (p.Ser1231Arg) n.246C>G c.257C>G | |
19 | g.7561085C>T | CA505404346 | PNPLA6 | c.3888C>T (p.Ser1296=) c.3774C>T (p.Ser1258=) c.3918C>T (p.Ser1306=) c.3693C>T (p.Ser1231=) n.246C>T c.257C>T | gnomAD v4 |
19 | g.7561086T>A | CA403138678 | PNPLA6 | c.3889T>A (p.Tyr1297Asn) c.3775T>A (p.Tyr1259Asn) c.3919T>A (p.Tyr1307Asn) c.3694T>A (p.Tyr1232Asn) n.247T>A c.258T>A | |
19 | g.7561086T>C | CA403138680 | PNPLA6 | c.3889T>C (p.Tyr1297His) c.3775T>C (p.Tyr1259His) c.3919T>C (p.Tyr1307His) c.3694T>C (p.Tyr1232His) n.247T>C c.258T>C | |
19 | g.7561086T>G | CA403138683 | PNPLA6 | c.3889T>G (p.Tyr1297Asp) c.3775T>G (p.Tyr1259Asp) c.3919T>G (p.Tyr1307Asp) c.3694T>G (p.Tyr1232Asp) n.247T>G c.258T>G | |
19 | g.7561087A>C | CA403138688 | PNPLA6 | c.3890A>C (p.Tyr1297Ser) c.3776A>C (p.Tyr1259Ser) c.3920A>C (p.Tyr1307Ser) c.3695A>C (p.Tyr1232Ser) n.248A>C c.259A>C | |
19 | g.7561087A>G | CA403138690 | PNPLA6 | c.3890A>G (p.Tyr1297Cys) c.3776A>G (p.Tyr1259Cys) c.3920A>G (p.Tyr1307Cys) c.3695A>G (p.Tyr1232Cys) n.248A>G c.259A>G | gnomAD v4 |
19 | g.7561087A>T | CA403138694 | PNPLA6 | c.3890A>T (p.Tyr1297Phe) c.3776A>T (p.Tyr1259Phe) c.3920A>T (p.Tyr1307Phe) c.3695A>T (p.Tyr1232Phe) n.248A>T c.259A>T | |
19 | g.7561088T>A | CA403138696 | PNPLA6 | c.3891T>A (p.Tyr1297Ter) c.3777T>A (p.Tyr1259Ter) c.3921T>A (p.Tyr1307Ter) c.3696T>A (p.Tyr1232Ter) n.249T>A c.260T>A | |
19 | g.7561088T>C | CA505404347 | PNPLA6 | c.3891T>C (p.Tyr1297=) c.3777T>C (p.Tyr1259=) c.3921T>C (p.Tyr1307=) c.3696T>C (p.Tyr1232=) n.249T>C c.260T>C | |
19 | g.7561088T>G | CA403138698 | PNPLA6 | c.3891T>G (p.Tyr1297Ter) c.3777T>G (p.Tyr1259Ter) c.3921T>G (p.Tyr1307Ter) c.3696T>G (p.Tyr1232Ter) n.249T>G c.260T>G | |
19 | g.7561089G>A | CA403138701 | PNPLA6 | c.3892G>A (p.Val1298Ile) c.3778G>A (p.Val1260Ile) c.3922G>A (p.Val1308Ile) c.3697G>A (p.Val1233Ile) n.250G>A c.261G>A | |
19 | g.7561089G>C | CA403138706 | PNPLA6 | c.3892G>C (p.Val1298Leu) c.3778G>C (p.Val1260Leu) c.3922G>C (p.Val1308Leu) c.3697G>C (p.Val1233Leu) n.250G>C c.261G>C | |
19 | g.7561089G>T | CA403138709 | PNPLA6 | c.3892G>T (p.Val1298Phe) c.3778G>T (p.Val1260Phe) c.3922G>T (p.Val1308Phe) c.3697G>T (p.Val1233Phe) n.250G>T c.261G>T | COSMIC COSMIC |
19 | g.7561090T>A | CA403138723 | PNPLA6 | c.3893T>A (p.Val1298Asp) c.3779T>A (p.Val1260Asp) c.3923T>A (p.Val1308Asp) c.3698T>A (p.Val1233Asp) n.251T>A c.262T>A | |
19 | g.7561090T>C | CA403138727 | PNPLA6 | c.3893T>C (p.Val1298Ala) c.3779T>C (p.Val1260Ala) c.3923T>C (p.Val1308Ala) c.3698T>C (p.Val1233Ala) n.251T>C c.262T>C | gnomAD v4 |
19 | g.7561090T>G | CA403138720 | PNPLA6 | c.3893T>G (p.Val1298Gly) c.3779T>G (p.Val1260Gly) c.3923T>G (p.Val1308Gly) c.3698T>G (p.Val1233Gly) n.251T>G c.262T>G | |
19 | g.7561091C>A | CA505404348 | PNPLA6 | c.3894C>A (p.Val1298=) c.3780C>A (p.Val1260=) c.3924C>A (p.Val1308=) c.3699C>A (p.Val1233=) n.252C>A c.263C>A | |
19 | g.7561091C>G | CA505404349 | PNPLA6 | c.3894C>G (p.Val1298=) c.3780C>G (p.Val1260=) c.3924C>G (p.Val1308=) c.3699C>G (p.Val1233=) n.252C>G c.263C>G | |
19 | g.7561091C>T | CA505404350 | PNPLA6 | c.3894C>T (p.Val1298=) c.3780C>T (p.Val1260=) c.3924C>T (p.Val1308=) c.3699C>T (p.Val1233=) n.252C>T c.263C>T | |
19 | g.7561092T>A | CA403138733 | PNPLA6 | c.3895T>A (p.Ser1299Thr) c.3781T>A (p.Ser1261Thr) c.3925T>A (p.Ser1309Thr) c.3700T>A (p.Ser1234Thr) n.253T>A c.264T>A | |
19 | g.7561092T>C | CA403138736 | PNPLA6 | c.3895T>C (p.Ser1299Pro) c.3781T>C (p.Ser1261Pro) c.3925T>C (p.Ser1309Pro) c.3700T>C (p.Ser1234Pro) n.253T>C c.264T>C | |
19 | g.7561092T>G | CA403138740 | PNPLA6 | c.3895T>G (p.Ser1299Ala) c.3781T>G (p.Ser1261Ala) c.3925T>G (p.Ser1309Ala) c.3700T>G (p.Ser1234Ala) n.253T>G c.264T>G |