Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.207611636C>A | CA2650269905 | CR1 | c.6296-41C>A (n.6296-41C>A) c.4946-41C>A (n.4946-41C>A) c.1180-4939C>A c.6311-41C>A (n.6311-41C>A) c.4961-41C>A (n.4961-41C>A) | gnomAD v4 |
1 | g.207611636C= | CA2483456499 | CR1 | c.6296-41C= (n.6296-41C=) c.4946-41C= (n.4946-41C=) c.1180-4939C= c.6311-41C= (n.6311-41C=) c.4961-41C= (n.4961-41C=) | |
1 | g.207611636C>T | CA1370404 | CR1 | c.6296-41C>T (n.6296-41C>T) c.4946-41C>T (n.4946-41C>T) c.1180-4939C>T c.6311-41C>T (n.6311-41C>T) c.4961-41C>T (n.4961-41C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.207611639dup | CA2573995957 | CR1 | c.6296-38dup (n.6296-38dup) c.4946-38dup (n.4946-38dup) c.1180-4936dup c.6311-38dup (n.6311-38dup) c.4961-38dup (n.4961-38dup) | |
1 | g.207611637C>A | CA2650269906 | CR1 | c.6296-40C>A (n.6296-40C>A) c.4946-40C>A (n.4946-40C>A) c.1180-4938C>A c.6311-40C>A (n.6311-40C>A) c.4961-40C>A (n.4961-40C>A) | gnomAD v4 |
1 | g.207611637C>T | CA2573995961 | CR1 | c.6296-40C>T (n.6296-40C>T) c.4946-40C>T (n.4946-40C>T) c.1180-4938C>T c.6311-40C>T (n.6311-40C>T) c.4961-40C>T (n.4961-40C>T) | |
1 | g.207611638C>A | CA2573653824 | CR1 | c.6296-39C>A (n.6296-39C>A) c.4946-39C>A (n.4946-39C>A) c.1180-4937C>A c.6311-39C>A (n.6311-39C>A) c.4961-39C>A (n.4961-39C>A) | gnomAD v4 |
1 | g.207611638C= | CA2483456500 | CR1 | c.6296-39C= (n.6296-39C=) c.4946-39C= (n.4946-39C=) c.1180-4937C= c.6311-39C= (n.6311-39C=) c.4961-39C= (n.4961-39C=) | |
1 | g.207611638C>T | CA2483456501 | CR1 | c.6296-39C>T (n.6296-39C>T) c.4946-39C>T (n.4946-39C>T) c.1180-4937C>T c.6311-39C>T (n.6311-39C>T) c.4961-39C>T (n.4961-39C>T) | dbSNP |
1 | g.207611639C>A | CA2573653825 | CR1 | c.6296-38C>A (n.6296-38C>A) c.4946-38C>A (n.4946-38C>A) c.1180-4936C>A c.6311-38C>A (n.6311-38C>A) c.4961-38C>A (n.4961-38C>A) | |
1 | g.207611639C= | CA2483456502 | CR1 | c.6296-38C= (n.6296-38C=) c.4946-38C= (n.4946-38C=) c.1180-4936C= c.6311-38C= (n.6311-38C=) c.4961-38C= (n.4961-38C=) | |
1 | g.207611639C>T | CA1370405 | CR1 | c.6296-38C>T (n.6296-38C>T) c.4946-38C>T (n.4946-38C>T) c.1180-4936C>T c.6311-38C>T (n.6311-38C>T) c.4961-38C>T (n.4961-38C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.207611640A= | CA2483456503 | CR1 | c.6296-37A= (n.6296-37A=) c.4946-37A= (n.4946-37A=) c.1180-4935A= c.6311-37A= (n.6311-37A=) c.4961-37A= (n.4961-37A=) | |
1 | g.207611640A>G | CA2483456504 | CR1 | c.6296-37A>G (n.6296-37A>G) c.4946-37A>G (n.4946-37A>G) c.1180-4935A>G c.6311-37A>G (n.6311-37A>G) c.4961-37A>G (n.4961-37A>G) | dbSNP gnomAD v4 |
1 | g.207611640A>T | CA2650269907 | CR1 | c.6296-37A>T (n.6296-37A>T) c.4946-37A>T (n.4946-37A>T) c.1180-4935A>T c.6311-37A>T (n.6311-37A>T) c.4961-37A>T (n.4961-37A>T) | gnomAD v4 |
1 | g.207611641T>C | CA2650269908 | CR1 | c.6296-36T>C (n.6296-36T>C) c.4946-36T>C (n.4946-36T>C) c.1180-4934T>C c.6311-36T>C (n.6311-36T>C) c.4961-36T>C (n.4961-36T>C) | gnomAD v4 |
1 | g.207611643T>A | CA1011635805 | CR1 | c.6296-34T>A (n.6296-34T>A) c.4946-34T>A (n.4946-34T>A) c.1180-4932T>A c.6311-34T>A (n.6311-34T>A) c.4961-34T>A (n.4961-34T>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.207611643T= | CA2483456505 | CR1 | c.6296-34T= (n.6296-34T=) c.4946-34T= (n.4946-34T=) c.1180-4932T= c.6311-34T= (n.6311-34T=) c.4961-34T= (n.4961-34T=) | |
1 | g.207611644C>A | CA528999490 | CR1 | c.6296-33C>A (n.6296-33C>A) c.4946-33C>A (n.4946-33C>A) c.1180-4931C>A c.6311-33C>A (n.6311-33C>A) c.4961-33C>A (n.4961-33C>A) | dbSNP gnomAD v2 |
1 | g.207611644C= | CA2483456506 | CR1 | c.6296-33C= (n.6296-33C=) c.4946-33C= (n.4946-33C=) c.1180-4931C= c.6311-33C= (n.6311-33C=) c.4961-33C= (n.4961-33C=) | |
1 | g.207611644C>G | CA528999491 | CR1 | c.6296-33C>G (n.6296-33C>G) c.4946-33C>G (n.4946-33C>G) c.1180-4931C>G c.6311-33C>G (n.6311-33C>G) c.4961-33C>G (n.4961-33C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.207611646A>G | CA2650269909 | CR1 | c.6296-31A>G (n.6296-31A>G) c.4946-31A>G (n.4946-31A>G) c.1180-4929A>G c.6311-31A>G (n.6311-31A>G) c.4961-31A>G (n.4961-31A>G) | gnomAD v4 |
1 | g.207611647A= | CA2483456507 | CR1 | c.6296-30A= (n.6296-30A=) c.4946-30A= (n.4946-30A=) c.1180-4928A= c.6311-30A= (n.6311-30A=) c.4961-30A= (n.4961-30A=) | |
1 | g.207611647A>G | CA2483456508 | CR1 | c.6296-30A>G (n.6296-30A>G) c.4946-30A>G (n.4946-30A>G) c.1180-4928A>G c.6311-30A>G (n.6311-30A>G) c.4961-30A>G (n.4961-30A>G) | dbSNP gnomAD v4 |
1 | g.207611648C>A | CA2650269910 | CR1 | c.6296-29C>A (n.6296-29C>A) c.4946-29C>A (n.4946-29C>A) c.1180-4927C>A c.6311-29C>A (n.6311-29C>A) c.4961-29C>A (n.4961-29C>A) | gnomAD v4 |
1 | g.207611650A>C | CA2573995966 | CR1 | c.6296-27A>C (n.6296-27A>C) c.4946-27A>C (n.4946-27A>C) c.1180-4925A>C c.6311-27A>C (n.6311-27A>C) c.4961-27A>C (n.4961-27A>C) | |
1 | g.207611651G>C | CA2573995967 | CR1 | c.6296-26G>C (n.6296-26G>C) c.4946-26G>C (n.4946-26G>C) c.1180-4924G>C c.6311-26G>C (n.6311-26G>C) c.4961-26G>C (n.4961-26G>C) | |
1 | g.207611652T>C | CA2573653826 | CR1 | c.6296-25T>C (n.6296-25T>C) c.4946-25T>C (n.4946-25T>C) c.1180-4923T>C c.6311-25T>C (n.6311-25T>C) c.4961-25T>C (n.4961-25T>C) | |
1 | g.207611652T>G | CA1370406 | CR1 | c.6296-25T>G (n.6296-25T>G) c.4946-25T>G (n.4946-25T>G) c.1180-4923T>G c.6311-25T>G (n.6311-25T>G) c.4961-25T>G (n.4961-25T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.207611652T= | CA2483456509 | CR1 | c.6296-25T= (n.6296-25T=) c.4946-25T= (n.4946-25T=) c.1180-4923T= c.6311-25T= (n.6311-25T=) c.4961-25T= (n.4961-25T=) | |
1 | g.207611654C>A | CA2650269911 | CR1 | c.6296-23C>A (n.6296-23C>A) c.4946-23C>A (n.4946-23C>A) c.1180-4921C>A c.6311-23C>A (n.6311-23C>A) c.4961-23C>A (n.4961-23C>A) | gnomAD v4 |
1 | g.207611654C= | CA2483456510 | CR1 | c.6296-23C= (n.6296-23C=) c.4946-23C= (n.4946-23C=) c.1180-4921C= c.6311-23C= (n.6311-23C=) c.4961-23C= (n.4961-23C=) | |
1 | g.207611654C>T | CA1370407 | CR1 | c.6296-23C>T (n.6296-23C>T) c.4946-23C>T (n.4946-23C>T) c.1180-4921C>T c.6311-23C>T (n.6311-23C>T) c.4961-23C>T (n.4961-23C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.207611655T>C | CA2483456512 | CR1 | c.6296-22T>C (n.6296-22T>C) c.4946-22T>C (n.4946-22T>C) c.1180-4920T>C c.6311-22T>C (n.6311-22T>C) c.4961-22T>C (n.4961-22T>C) | dbSNP |
1 | g.207611655T= | CA2483456511 | CR1 | c.6296-22T= (n.6296-22T=) c.4946-22T= (n.4946-22T=) c.1180-4920T= c.6311-22T= (n.6311-22T=) c.4961-22T= (n.4961-22T=) | |
1 | g.207611656C>G | CA2650269912 | CR1 | c.6296-21C>G (n.6296-21C>G) c.4946-21C>G (n.4946-21C>G) c.1180-4919C>G c.6311-21C>G (n.6311-21C>G) c.4961-21C>G (n.4961-21C>G) | gnomAD v4 |
1 | g.207611657T>C | CA1370408 | CR1 | c.6296-20T>C (n.6296-20T>C) c.4946-20T>C (n.4946-20T>C) c.1180-4918T>C c.6311-20T>C (n.6311-20T>C) c.4961-20T>C (n.4961-20T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.207611657T= | CA2483456513 | CR1 | c.6296-20T= (n.6296-20T=) c.4946-20T= (n.4946-20T=) c.1180-4918T= c.6311-20T= (n.6311-20T=) c.4961-20T= (n.4961-20T=) | |
1 | g.207611660A>G | CA2650269913 | CR1 | c.6296-17A>G (n.6296-17A>G) c.4946-17A>G (n.4946-17A>G) c.1180-4915A>G c.6311-17A>G (n.6311-17A>G) c.4961-17A>G (n.4961-17A>G) | gnomAD v4 |
1 | g.207611661A>G | CA2573995970 | CR1 | c.6296-16A>G (n.6296-16A>G) c.4946-16A>G (n.4946-16A>G) c.1180-4914A>G c.6311-16A>G (n.6311-16A>G) c.4961-16A>G (n.4961-16A>G) | |
1 | g.207611663T>A | CA2650269914 | CR1 | c.6296-14T>A (n.6296-14T>A) c.4946-14T>A (n.4946-14T>A) c.1180-4912T>A c.6311-14T>A (n.6311-14T>A) c.4961-14T>A (n.4961-14T>A) | gnomAD v4 |
1 | g.207611663T>C | CA2650269915 | CR1 | c.6296-14T>C (n.6296-14T>C) c.4946-14T>C (n.4946-14T>C) c.1180-4912T>C c.6311-14T>C (n.6311-14T>C) c.4961-14T>C (n.4961-14T>C) | gnomAD v4 |
1 | g.207611664G>C | CA1370409 | CR1 | c.6296-13G>C (n.6296-13G>C) c.4946-13G>C (n.4946-13G>C) c.1180-4911G>C c.6311-13G>C (n.6311-13G>C) c.4961-13G>C (n.4961-13G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.207611664G= | CA2483456514 | CR1 | c.6296-13G= (n.6296-13G=) c.4946-13G= (n.4946-13G=) c.1180-4911G= c.6311-13G= (n.6311-13G=) c.4961-13G= (n.4961-13G=) | |
1 | g.207611666_207611677del | CA2650269916 | CR1 | c.6296-11_6296del c.4946-11_4946del c.1180-4909_1180-4898del c.6311-11_6311del c.4961-11_4961del | gnomAD v4 |
1 | g.207611665T>C | CA2573653827 | CR1 | c.6296-12T>C (n.6296-12T>C) c.4946-12T>C (n.4946-12T>C) c.1180-4910T>C c.6311-12T>C (n.6311-12T>C) c.4961-12T>C (n.4961-12T>C) | |
1 | g.207611665T>G | CA528999497 | CR1 | c.6296-12T>G (n.6296-12T>G) c.4946-12T>G (n.4946-12T>G) c.1180-4910T>G c.6311-12T>G (n.6311-12T>G) c.4961-12T>G (n.4961-12T>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.207611665T= | CA2483456515 | CR1 | c.6296-12T= (n.6296-12T=) c.4946-12T= (n.4946-12T=) c.1180-4910T= c.6311-12T= (n.6311-12T=) c.4961-12T= (n.4961-12T=) | |
1 | g.207611666C>A | CA2483456517 | CR1 | c.6296-11C>A (n.6296-11C>A) c.4946-11C>A (n.4946-11C>A) c.1180-4909C>A c.6311-11C>A (n.6311-11C>A) c.4961-11C>A (n.4961-11C>A) | dbSNP |
1 | g.207611666C= | CA2483456516 | CR1 | c.6296-11C= (n.6296-11C=) c.4946-11C= (n.4946-11C=) c.1180-4909C= c.6311-11C= (n.6311-11C=) c.4961-11C= (n.4961-11C=) | |
1 | g.207611667C>T | CA2650269917 | CR1 | c.6296-10C>T (n.6296-10C>T) c.4946-10C>T (n.4946-10C>T) c.1180-4908C>T c.6311-10C>T (n.6311-10C>T) c.4961-10C>T (n.4961-10C>T) | gnomAD v4 |
1 | g.207611668T>G | CA528999498 | CR1 | c.6296-9T>G (n.6296-9T>G) c.4946-9T>G (n.4946-9T>G) c.1180-4907T>G c.6311-9T>G (n.6311-9T>G) c.4961-9T>G (n.4961-9T>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.207611668T= | CA2483456518 | CR1 | c.6296-9T= (n.6296-9T=) c.4946-9T= (n.4946-9T=) c.1180-4907T= c.6311-9T= (n.6311-9T=) c.4961-9T= (n.4961-9T=) | |
1 | g.207611669T>A | CA1370410 | CR1 | c.6296-8T>A (n.6296-8T>A) c.4946-8T>A (n.4946-8T>A) c.1180-4906T>A c.6311-8T>A (n.6311-8T>A) c.4961-8T>A (n.4961-8T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.207611669T>C | CA2650269918 | CR1 | c.6296-8T>C (n.6296-8T>C) c.4946-8T>C (n.4946-8T>C) c.1180-4906T>C c.6311-8T>C (n.6311-8T>C) c.4961-8T>C (n.4961-8T>C) | gnomAD v4 |
1 | g.207611669T= | CA1143967111 | CR1 | c.6296-8T= (n.6296-8T=) c.4946-8T= (n.4946-8T=) c.1180-4906T= c.6311-8T= (n.6311-8T=) c.4961-8T= (n.4961-8T=) | |
1 | g.207611671C= | CA2483456519 | CR1 | c.6296-6C= (n.6296-6C=) c.4946-6C= (n.4946-6C=) c.1180-4904C= c.6311-6C= (n.6311-6C=) c.4961-6C= (n.4961-6C=) | |
1 | g.207611671C>G | CA1370411 | CR1 | c.6296-6C>G (n.6296-6C>G) c.4946-6C>G (n.4946-6C>G) c.1180-4904C>G c.6311-6C>G (n.6311-6C>G) c.4961-6C>G (n.4961-6C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.207611672C>T | CA2650269919 | CR1 | c.6296-5C>T (n.6296-5C>T) c.4946-5C>T (n.4946-5C>T) c.1180-4903C>T c.6311-5C>T (n.6311-5C>T) c.4961-5C>T (n.4961-5C>T) | gnomAD v4 |
1 | g.207611673A= | CA2483456520 | CR1 | c.6296-4A= (n.6296-4A=) c.4946-4A= (n.4946-4A=) c.1180-4902A= c.6311-4A= (n.6311-4A=) c.4961-4A= (n.4961-4A=) | |
1 | g.207611673A>C | CA1370412 | CR1 | c.6296-4A>C (n.6296-4A>C) c.4946-4A>C (n.4946-4A>C) c.1180-4902A>C c.6311-4A>C (n.6311-4A>C) c.4961-4A>C (n.4961-4A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.207611675A= | CA2483456521 | CR1 | c.6296-2A= (n.6296-2A=) c.4946-2A= (n.4946-2A=) c.1180-4900A= c.6311-2A= (n.6311-2A=) c.4961-2A= (n.4961-2A=) | |
1 | g.207611675A>C | CA344544912 | CR1 | c.6296-2A>C (n.6296-2A>C) c.4946-2A>C (n.4946-2A>C) c.1180-4900A>C c.6311-2A>C (n.6311-2A>C) c.4961-2A>C (n.4961-2A>C) | |
1 | g.207611675A>G | CA344544913 | CR1 | c.6296-2A>G (n.6296-2A>G) c.4946-2A>G (n.4946-2A>G) c.1180-4900A>G c.6311-2A>G (n.6311-2A>G) c.4961-2A>G (n.4961-2A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.207611675A>T | CA344544914 | CR1 | c.6296-2A>T (n.6296-2A>T) c.4946-2A>T (n.4946-2A>T) c.1180-4900A>T c.6311-2A>T (n.6311-2A>T) c.4961-2A>T (n.4961-2A>T) | |
1 | g.207611676G>A | CA1370413 | CR1 | c.6296-1G>A (n.6296-1G>A) c.4946-1G>A (n.4946-1G>A) c.1180-4899G>A c.6311-1G>A (n.6311-1G>A) c.4961-1G>A (n.4961-1G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.207611676G>C | CA344544915 | CR1 | c.6296-1G>C (n.6296-1G>C) c.4946-1G>C (n.4946-1G>C) c.1180-4899G>C c.6311-1G>C (n.6311-1G>C) c.4961-1G>C (n.4961-1G>C) | |
1 | g.207611676G= | CA1144208193 | CR1 | c.6296-1G= (n.6296-1G=) c.4946-1G= (n.4946-1G=) c.1180-4899G= c.6311-1G= (n.6311-1G=) c.4961-1G= (n.4961-1G=) | |
1 | g.207611676G>T | CA344544916 | CR1 | c.6296-1G>T (n.6296-1G>T) c.4946-1G>T (n.4946-1G>T) c.1180-4899G>T c.6311-1G>T (n.6311-1G>T) c.4961-1G>T (n.4961-1G>T) | |
1 | g.207611677T>A | CA344544917 | CR1 | c.6296T>A (p.Val2099Glu) c.4946T>A (p.Val1649Glu) c.1180-4898T>A c.6311T>A (p.Val2104Glu) c.4961T>A (p.Val1654Glu) | |
1 | g.207611677T>C | CA1370414 | CR1 | c.6296T>C (p.Val2099Ala) c.4946T>C (p.Val1649Ala) c.1180-4898T>C c.6311T>C (p.Val2104Ala) c.4961T>C (p.Val1654Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.207611677T>G | CA344544918 | CR1 | c.6296T>G (p.Val2099Gly) c.4946T>G (p.Val1649Gly) c.1180-4898T>G c.6311T>G (p.Val2104Gly) c.4961T>G (p.Val1654Gly) | |
1 | g.207611677T= | CA1145301360 | CR1 | c.6296T= (p.Val2099=) c.4946T= (p.Val1649=) c.1180-4898T= c.6311T= (p.Val2104=) c.4961T= (p.Val1654=) | |
1 | g.207611678G>A | CA422972654 | CR1 | c.6297G>A (p.Val2099=) c.4947G>A (p.Val1649=) c.1180-4897G>A c.6312G>A (p.Val2104=) c.4962G>A (p.Val1654=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.207611678G>C | CA36655187 | CR1 | c.6297G>C (p.Val2099=) c.4947G>C (p.Val1649=) c.1180-4897G>C c.6312G>C (p.Val2104=) c.4962G>C (p.Val1654=) | dbSNP |
1 | g.207611678G= | CA2483456522 | CR1 | c.6297G= (p.Val2099=) c.4947G= (p.Val1649=) c.1180-4897G= c.6312G= (p.Val2104=) c.4962G= (p.Val1654=) | |
1 | g.207611678G>T | CA422972657 | CR1 | c.6297G>T (p.Val2099=) c.4947G>T (p.Val1649=) c.1180-4897G>T c.6312G>T (p.Val2104=) c.4962G>T (p.Val1654=) | |
1 | g.207611679T>A | CA344544919 | CR1 | c.6298T>A (p.Cys2100Ser) c.4948T>A (p.Cys1650Ser) c.1180-4896T>A c.6313T>A (p.Cys2105Ser) c.4963T>A (p.Cys1655Ser) | |
1 | g.207611679T>C | CA344544920 | CR1 | c.6298T>C (p.Cys2100Arg) c.4948T>C (p.Cys1650Arg) c.1180-4896T>C c.6313T>C (p.Cys2105Arg) c.4963T>C (p.Cys1655Arg) | |
1 | g.207611679T>G | CA344544921 | CR1 | c.6298T>G (p.Cys2100Gly) c.4948T>G (p.Cys1650Gly) c.1180-4896T>G c.6313T>G (p.Cys2105Gly) c.4963T>G (p.Cys1655Gly) | |
1 | g.207611680G>A | CA1370415 | CR1 | c.6299G>A (p.Cys2100Tyr) c.4949G>A (p.Cys1650Tyr) c.1180-4895G>A c.6314G>A (p.Cys2105Tyr) c.4964G>A (p.Cys1655Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.207611680G>C | CA344544923 | CR1 | c.6299G>C (p.Cys2100Ser) c.4949G>C (p.Cys1650Ser) c.1180-4895G>C c.6314G>C (p.Cys2105Ser) c.4964G>C (p.Cys1655Ser) | |
1 | g.207611680G= | CA2483456523 | CR1 | c.6299G= (p.Cys2100=) c.4949G= (p.Cys1650=) c.1180-4895G= c.6314G= (p.Cys2105=) c.4964G= (p.Cys1655=) | |
1 | g.207611680G>T | CA344544922 | CR1 | c.6299G>T (p.Cys2100Phe) c.4949G>T (p.Cys1650Phe) c.1180-4895G>T c.6314G>T (p.Cys2105Phe) c.4964G>T (p.Cys1655Phe) | gnomAD v4 |
1 | g.207611681T>A | CA344544924 | CR1 | c.6300T>A (p.Cys2100Ter) c.4950T>A (p.Cys1650Ter) c.1180-4894T>A c.6315T>A (p.Cys2105Ter) c.4965T>A (p.Cys1655Ter) | |
1 | g.207611681T>C | CA422972664 | CR1 | c.6300T>C (p.Cys2100=) c.4950T>C (p.Cys1650=) c.1180-4894T>C c.6315T>C (p.Cys2105=) c.4965T>C (p.Cys1655=) | gnomAD v4 |
1 | g.207611681T>G | CA344544925 | CR1 | c.6300T>G (p.Cys2100Trp) c.4950T>G (p.Cys1650Trp) c.1180-4894T>G c.6315T>G (p.Cys2105Trp) c.4965T>G (p.Cys1655Trp) | |
1 | g.207611682C>A | CA344544926 | CR1 | c.6301C>A (p.Gln2101Lys) c.4951C>A (p.Gln1651Lys) c.1180-4893C>A c.6316C>A (p.Gln2106Lys) c.4966C>A (p.Gln1656Lys) | |
1 | g.207611682C>G | CA344544927 | CR1 | c.6301C>G (p.Gln2101Glu) c.4951C>G (p.Gln1651Glu) c.1180-4893C>G c.6316C>G (p.Gln2106Glu) c.4966C>G (p.Gln1656Glu) | |
1 | g.207611682C>T | CA344544928 | CR1 | c.6301C>T (p.Gln2101Ter) c.4951C>T (p.Gln1651Ter) c.1180-4893C>T c.6316C>T (p.Gln2106Ter) c.4966C>T (p.Gln1656Ter) | dbSNP |
1 | g.207611683A>C | CA344544929 | CR1 | c.6302A>C (p.Gln2101Pro) c.4952A>C (p.Gln1651Pro) c.1180-4892A>C c.6317A>C (p.Gln2106Pro) c.4967A>C (p.Gln1656Pro) | |
1 | g.207611683A>G | CA344544930 | CR1 | c.6302A>G (p.Gln2101Arg) c.4952A>G (p.Gln1651Arg) c.1180-4892A>G c.6317A>G (p.Gln2106Arg) c.4967A>G (p.Gln1656Arg) | |
1 | g.207611683A>T | CA344544931 | CR1 | c.6302A>T (p.Gln2101Leu) c.4952A>T (p.Gln1651Leu) c.1180-4892A>T c.6317A>T (p.Gln2106Leu) c.4967A>T (p.Gln1656Leu) | |
1 | g.207611684G>A | CA422972672 | CR1 | c.6303G>A (p.Gln2101=) c.4953G>A (p.Gln1651=) c.1180-4891G>A c.6318G>A (p.Gln2106=) c.4968G>A (p.Gln1656=) | dbSNP |
1 | g.207611684G>C | CA344544932 | CR1 | c.6303G>C (p.Gln2101His) c.4953G>C (p.Gln1651His) c.1180-4891G>C c.6318G>C (p.Gln2106His) c.4968G>C (p.Gln1656His) | |
1 | g.207611684G= | CA2483456524 | CR1 | c.6303G= (p.Gln2101=) c.4953G= (p.Gln1651=) c.1180-4891G= c.6318G= (p.Gln2106=) c.4968G= (p.Gln1656=) | |
1 | g.207611684G>T | CA344544933 | CR1 | c.6303G>T (p.Gln2101His) c.4953G>T (p.Gln1651His) c.1180-4891G>T c.6318G>T (p.Gln2106His) c.4968G>T (p.Gln1656His) | |
1 | g.207611685C>A | CA344544934 | CR1 | c.6304C>A (p.Pro2102Thr) c.4954C>A (p.Pro1652Thr) c.1180-4890C>A c.6319C>A (p.Pro2107Thr) c.4969C>A (p.Pro1657Thr) | |
1 | g.207611685C>G | CA344544935 | CR1 | c.6304C>G (p.Pro2102Ala) c.4954C>G (p.Pro1652Ala) c.1180-4890C>G c.6319C>G (p.Pro2107Ala) c.4969C>G (p.Pro1657Ala) | |
1 | g.207611685C>T | CA344544936 | CR1 | c.6304C>T (p.Pro2102Ser) c.4954C>T (p.Pro1652Ser) c.1180-4890C>T c.6319C>T (p.Pro2107Ser) c.4969C>T (p.Pro1657Ser) | gnomAD v4 |
1 | g.207611686C>A | CA344544937 | CR1 | c.6305C>A (p.Pro2102Gln) c.4955C>A (p.Pro1652Gln) c.1180-4889C>A c.6320C>A (p.Pro2107Gln) c.4970C>A (p.Pro1657Gln) | |
1 | g.207611686C= | CA1146808341 | CR1 | c.6305C= (p.Pro2102=) c.4955C= (p.Pro1652=) c.1180-4889C= c.6320C= (p.Pro2107=) c.4970C= (p.Pro1657=) | |
1 | g.207611686C>G | CA344544938 | CR1 | c.6305C>G (p.Pro2102Arg) c.4955C>G (p.Pro1652Arg) c.1180-4889C>G c.6320C>G (p.Pro2107Arg) c.4970C>G (p.Pro1657Arg) | |
1 | g.207611686C>T | CA1370416 | CR1 | c.6305C>T (p.Pro2102Leu) c.4955C>T (p.Pro1652Leu) c.1180-4889C>T c.6320C>T (p.Pro2107Leu) c.4970C>T (p.Pro1657Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.207611687G>A | CA1370417 | CR1 | c.6306G>A (p.Pro2102=) c.4956G>A (p.Pro1652=) c.1180-4888G>A c.6321G>A (p.Pro2107=) c.4971G>A (p.Pro1657=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.207611687G>C | CA422972677 | CR1 | c.6306G>C (p.Pro2102=) c.4956G>C (p.Pro1652=) c.1180-4888G>C c.6321G>C (p.Pro2107=) c.4971G>C (p.Pro1657=) | |
1 | g.207611687G= | CA2483456525 | CR1 | c.6306G= (p.Pro2102=) c.4956G= (p.Pro1652=) c.1180-4888G= c.6321G= (p.Pro2107=) c.4971G= (p.Pro1657=) | |
1 | g.207611687G>T | CA422972679 | CR1 | c.6306G>T (p.Pro2102=) c.4956G>T (p.Pro1652=) c.1180-4888G>T c.6321G>T (p.Pro2107=) c.4971G>T (p.Pro1657=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.207611688C>A | CA344544939 | CR1 | c.6307C>A (p.Pro2103Thr) c.4957C>A (p.Pro1653Thr) c.1180-4887C>A c.6322C>A (p.Pro2108Thr) c.4972C>A (p.Pro1658Thr) | |
1 | g.207611688C>G | CA344544941 | CR1 | c.6307C>G (p.Pro2103Ala) c.4957C>G (p.Pro1653Ala) c.1180-4887C>G c.6322C>G (p.Pro2108Ala) c.4972C>G (p.Pro1658Ala) | |
1 | g.207611688C>T | CA344544940 | CR1 | c.6307C>T (p.Pro2103Ser) c.4957C>T (p.Pro1653Ser) c.1180-4887C>T c.6322C>T (p.Pro2108Ser) c.4972C>T (p.Pro1658Ser) | |
1 | g.207611689C>A | CA344544942 | CR1 | c.6308C>A (p.Pro2103His) c.4958C>A (p.Pro1653His) c.1180-4886C>A c.6323C>A (p.Pro2108His) c.4973C>A (p.Pro1658His) | COSMIC COSMIC |
1 | g.207611689C>G | CA344544943 | CR1 | c.6308C>G (p.Pro2103Arg) c.4958C>G (p.Pro1653Arg) c.1180-4886C>G c.6323C>G (p.Pro2108Arg) c.4973C>G (p.Pro1658Arg) | |
1 | g.207611689C>T | CA344544944 | CR1 | c.6308C>T (p.Pro2103Leu) c.4958C>T (p.Pro1653Leu) c.1180-4886C>T c.6323C>T (p.Pro2108Leu) c.4973C>T (p.Pro1658Leu) | |
1 | g.207611690T>A | CA422972688 | CR1 | c.6309T>A (p.Pro2103=) c.4959T>A (p.Pro1653=) c.1180-4885T>A c.6324T>A (p.Pro2108=) c.4974T>A (p.Pro1658=) | |
1 | g.207611690T>C | CA422972689 | CR1 | c.6309T>C (p.Pro2103=) c.4959T>C (p.Pro1653=) c.1180-4885T>C c.6324T>C (p.Pro2108=) c.4974T>C (p.Pro1658=) | |
1 | g.207611690T>G | CA422972691 | CR1 | c.6309T>G (p.Pro2103=) c.4959T>G (p.Pro1653=) c.1180-4885T>G c.6324T>G (p.Pro2108=) c.4974T>G (p.Pro1658=) | |
1 | g.207611691C>A | CA344544945 | CR1 | c.6310C>A (p.Pro2104Thr) c.4960C>A (p.Pro1654Thr) c.1180-4884C>A c.6325C>A (p.Pro2109Thr) c.4975C>A (p.Pro1659Thr) | |
1 | g.207611691C= | CA1148411481 | CR1 | c.6310C= (p.Pro2104=) c.4960C= (p.Pro1654=) c.1180-4884C= c.6325C= (p.Pro2109=) c.4975C= (p.Pro1659=) | |
1 | g.207611691C>G | CA344544946 | CR1 | c.6310C>G (p.Pro2104Ala) c.4960C>G (p.Pro1654Ala) c.1180-4884C>G c.6325C>G (p.Pro2109Ala) c.4975C>G (p.Pro1659Ala) | |
1 | g.207611691C>T | CA1370418 | CR1 | c.6310C>T (p.Pro2104Ser) c.4960C>T (p.Pro1654Ser) c.1180-4884C>T c.6325C>T (p.Pro2109Ser) c.4975C>T (p.Pro1659Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.207611692C>A | CA344544947 | CR1 | c.6311C>A (p.Pro2104Gln) c.4961C>A (p.Pro1654Gln) c.1180-4883C>A c.6326C>A (p.Pro2109Gln) c.4976C>A (p.Pro1659Gln) | |
1 | g.207611692C>G | CA344544948 | CR1 | c.6311C>G (p.Pro2104Arg) c.4961C>G (p.Pro1654Arg) c.1180-4883C>G c.6326C>G (p.Pro2109Arg) c.4976C>G (p.Pro1659Arg) | |
1 | g.207611692C>T | CA344544949 | CR1 | c.6311C>T (p.Pro2104Leu) c.4961C>T (p.Pro1654Leu) c.1180-4883C>T c.6326C>T (p.Pro2109Leu) c.4976C>T (p.Pro1659Leu) | |
1 | g.207611693A>C | CA422972699 | CR1 | c.6312A>C (p.Pro2104=) c.4962A>C (p.Pro1654=) c.1180-4882A>C c.6327A>C (p.Pro2109=) c.4977A>C (p.Pro1659=) | |
1 | g.207611693A>G | CA422972701 | CR1 | c.6312A>G (p.Pro2104=) c.4962A>G (p.Pro1654=) c.1180-4882A>G c.6327A>G (p.Pro2109=) c.4977A>G (p.Pro1659=) | |
1 | g.207611693A>T | CA422972703 | CR1 | c.6312A>T (p.Pro2104=) c.4962A>T (p.Pro1654=) c.1180-4882A>T c.6327A>T (p.Pro2109=) c.4977A>T (p.Pro1659=) | |
1 | g.207611694del | CA645524141 | CR1 | c.6313del (p.Glu2105LysfsTer9) c.4963del (p.Glu1655LysfsTer9) c.1180-4881del c.6328del (p.Glu2110LysfsTer9) c.4978del (p.Glu1660LysfsTer9) | COSMIC COSMIC |
1 | g.207611694G>A | CA344544950 | CR1 | c.6313G>A (p.Glu2105Lys) c.4963G>A (p.Glu1655Lys) c.1180-4881G>A c.6328G>A (p.Glu2110Lys) c.4978G>A (p.Glu1660Lys) | gnomAD v4 |
1 | g.207611694G>C | CA344544951 | CR1 | c.6313G>C (p.Glu2105Gln) c.4963G>C (p.Glu1655Gln) c.1180-4881G>C c.6328G>C (p.Glu2110Gln) c.4978G>C (p.Glu1660Gln) | |
1 | g.207611694G>T | CA344544952 | CR1 | c.6313G>T (p.Glu2105Ter) c.4963G>T (p.Glu1655Ter) c.1180-4881G>T c.6328G>T (p.Glu2110Ter) c.4978G>T (p.Glu1660Ter) | |
1 | g.207611695A= | CA2483456526 | CR1 | c.6314A= (p.Glu2105=) c.4964A= (p.Glu1655=) c.1180-4880A= c.6329A= (p.Glu2110=) c.4979A= (p.Glu1660=) | |
1 | g.207611695A>C | CA344544955 | CR1 | c.6314A>C (p.Glu2105Ala) c.4964A>C (p.Glu1655Ala) c.1180-4880A>C c.6329A>C (p.Glu2110Ala) c.4979A>C (p.Glu1660Ala) | |
1 | g.207611695A>G | CA344544953 | CR1 | c.6314A>G (p.Glu2105Gly) c.4964A>G (p.Glu1655Gly) c.1180-4880A>G c.6329A>G (p.Glu2110Gly) c.4979A>G (p.Glu1660Gly) | dbSNP |
1 | g.207611695A>T | CA344544954 | CR1 | c.6314A>T (p.Glu2105Val) c.4964A>T (p.Glu1655Val) c.1180-4880A>T c.6329A>T (p.Glu2110Val) c.4979A>T (p.Glu1660Val) | gnomAD v4 |
1 | g.207611696A= | CA2483456527 | CR1 | c.6315A= (p.Glu2105=) c.4965A= (p.Glu1655=) c.1180-4879A= c.6330A= (p.Glu2110=) c.4980A= (p.Glu1660=) | |
1 | g.207611696A>C | CA344544956 | CR1 | c.6315A>C (p.Glu2105Asp) c.4965A>C (p.Glu1655Asp) c.1180-4879A>C c.6330A>C (p.Glu2110Asp) c.4980A>C (p.Glu1660Asp) | |
1 | g.207611696A>G | CA422972716 | CR1 | c.6315A>G (p.Glu2105=) c.4965A>G (p.Glu1655=) c.1180-4879A>G c.6330A>G (p.Glu2110=) c.4980A>G (p.Glu1660=) | |
1 | g.207611696A>T | CA344544957 | CR1 | c.6315A>T (p.Glu2105Asp) c.4965A>T (p.Glu1655Asp) c.1180-4879A>T c.6330A>T (p.Glu2110Asp) c.4980A>T (p.Glu1660Asp) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.207611697A>C | CA344544958 | CR1 | c.6316A>C (p.Ile2106Leu) c.4966A>C (p.Ile1656Leu) c.1180-4878A>C c.6331A>C (p.Ile2111Leu) c.4981A>C (p.Ile1661Leu) | |
1 | g.207611697A>G | CA344544959 | CR1 | c.6316A>G (p.Ile2106Val) c.4966A>G (p.Ile1656Val) c.1180-4878A>G c.6331A>G (p.Ile2111Val) c.4981A>G (p.Ile1661Val) | |
1 | g.207611697A>T | CA344544960 | CR1 | c.6316A>T (p.Ile2106Phe) c.4966A>T (p.Ile1656Phe) c.1180-4878A>T c.6331A>T (p.Ile2111Phe) c.4981A>T (p.Ile1661Phe) | |
1 | g.207611698T>A | CA344544961 | CR1 | c.6317T>A (p.Ile2106Asn) c.4967T>A (p.Ile1656Asn) c.1180-4877T>A c.6332T>A (p.Ile2111Asn) c.4982T>A (p.Ile1661Asn) | |
1 | g.207611698T>C | CA344544962 | CR1 | c.6317T>C (p.Ile2106Thr) c.4967T>C (p.Ile1656Thr) c.1180-4877T>C c.6332T>C (p.Ile2111Thr) c.4982T>C (p.Ile1661Thr) | |
1 | g.207611698T>G | CA344544963 | CR1 | c.6317T>G (p.Ile2106Ser) c.4967T>G (p.Ile1656Ser) c.1180-4877T>G c.6332T>G (p.Ile2111Ser) c.4982T>G (p.Ile1661Ser) | |
1 | g.207611699C>A | CA422972723 | CR1 | c.6318C>A (p.Ile2106=) c.4968C>A (p.Ile1656=) c.1180-4876C>A c.6333C>A (p.Ile2111=) c.4983C>A (p.Ile1661=) | |
1 | g.207611699C>G | CA344544964 | CR1 | c.6318C>G (p.Ile2106Met) c.4968C>G (p.Ile1656Met) c.1180-4876C>G c.6333C>G (p.Ile2111Met) c.4983C>G (p.Ile1661Met) | |
1 | g.207611699C>T | CA422972726 | CR1 | c.6318C>T (p.Ile2106=) c.4968C>T (p.Ile1656=) c.1180-4876C>T c.6333C>T (p.Ile2111=) c.4983C>T (p.Ile1661=) | COSMIC COSMIC |
1 | g.207611700C>A | CA344544965 | CR1 | c.6319C>A (p.Leu2107Met) c.4969C>A (p.Leu1657Met) c.1180-4875C>A c.6334C>A (p.Leu2112Met) c.4984C>A (p.Leu1662Met) | COSMIC COSMIC |
1 | g.207611700C>G | CA344544966 | CR1 | c.6319C>G (p.Leu2107Val) c.4969C>G (p.Leu1657Val) c.1180-4875C>G c.6334C>G (p.Leu2112Val) c.4984C>G (p.Leu1662Val) | |
1 | g.207611700C>T | CA422972728 | CR1 | c.6319C>T (p.Leu2107=) c.4969C>T (p.Leu1657=) c.1180-4875C>T c.6334C>T (p.Leu2112=) c.4984C>T (p.Leu1662=) | |
1 | g.207611701T>A | CA344544969 | CR1 | c.6320T>A (p.Leu2107Gln) c.4970T>A (p.Leu1657Gln) c.1180-4874T>A c.6335T>A (p.Leu2112Gln) c.4985T>A (p.Leu1662Gln) | |
1 | g.207611701T>C | CA344544968 | CR1 | c.6320T>C (p.Leu2107Pro) c.4970T>C (p.Leu1657Pro) c.1180-4874T>C c.6335T>C (p.Leu2112Pro) c.4985T>C (p.Leu1662Pro) | |
1 | g.207611701T>G | CA344544967 | CR1 | c.6320T>G (p.Leu2107Arg) c.4970T>G (p.Leu1657Arg) c.1180-4874T>G c.6335T>G (p.Leu2112Arg) c.4985T>G (p.Leu1662Arg) | |
1 | g.207611702G>A | CA422972738 | CR1 | c.6321G>A (p.Leu2107=) c.4971G>A (p.Leu1657=) c.1180-4873G>A c.6336G>A (p.Leu2112=) c.4986G>A (p.Leu1662=) | |
1 | g.207611702G>C | CA422972737 | CR1 | c.6321G>C (p.Leu2107=) c.4971G>C (p.Leu1657=) c.1180-4873G>C c.6336G>C (p.Leu2112=) c.4986G>C (p.Leu1662=) | |
1 | g.207611702G>T | CA422972735 | CR1 | c.6321G>T (p.Leu2107=) c.4971G>T (p.Leu1657=) c.1180-4873G>T c.6336G>T (p.Leu2112=) c.4986G>T (p.Leu1662=) | gnomAD v4 |
1 | g.207611703C>A | CA344544970 | CR1 | c.6322C>A (p.His2108Asn) c.4972C>A (p.His1658Asn) c.1180-4872C>A c.6337C>A (p.His2113Asn) c.4987C>A (p.His1663Asn) | |
1 | g.207611703C= | CA2483456528 | CR1 | c.6322C= (p.His2108=) c.4972C= (p.His1658=) c.1180-4872C= c.6337C= (p.His2113=) c.4987C= (p.His1663=) | |
1 | g.207611703C>G | CA344544971 | CR1 | c.6322C>G (p.His2108Asp) c.4972C>G (p.His1658Asp) c.1180-4872C>G c.6337C>G (p.His2113Asp) c.4987C>G (p.His1663Asp) | |
1 | g.207611703C>T | CA1370419 | CR1 | c.6322C>T (p.His2108Tyr) c.4972C>T (p.His1658Tyr) c.1180-4872C>T c.6337C>T (p.His2113Tyr) c.4987C>T (p.His1663Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.207611704A= | CA2483456529 | CR1 | c.6323A= (p.His2108=) c.4973A= (p.His1658=) c.1180-4871A= c.6338A= (p.His2113=) c.4988A= (p.His1663=) | |
1 | g.207611704A>C | CA344544972 | CR1 | c.6323A>C (p.His2108Pro) c.4973A>C (p.His1658Pro) c.1180-4871A>C c.6338A>C (p.His2113Pro) c.4988A>C (p.His1663Pro) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.207611704A>G | CA344544973 | CR1 | c.6323A>G (p.His2108Arg) c.4973A>G (p.His1658Arg) c.1180-4871A>G c.6338A>G (p.His2113Arg) c.4988A>G (p.His1663Arg) | |
1 | g.207611704A>T | CA344544974 | CR1 | c.6323A>T (p.His2108Leu) c.4973A>T (p.His1658Leu) c.1180-4871A>T c.6338A>T (p.His2113Leu) c.4988A>T (p.His1663Leu) | |
1 | g.207611705T>A | CA344544976 | CR1 | c.6324T>A (p.His2108Gln) c.4974T>A (p.His1658Gln) c.1180-4870T>A c.6339T>A (p.His2113Gln) c.4989T>A (p.His1663Gln) | gnomAD v4 |
1 | g.207611705T>C | CA422972746 | CR1 | c.6324T>C (p.His2108=) c.4974T>C (p.His1658=) c.1180-4870T>C c.6339T>C (p.His2113=) c.4989T>C (p.His1663=) | |
1 | g.207611705T>G | CA344544975 | CR1 | c.6324T>G (p.His2108Gln) c.4974T>G (p.His1658Gln) c.1180-4870T>G c.6339T>G (p.His2113Gln) c.4989T>G (p.His1663Gln) | |
1 | g.207611706G>A | CA1370420 | CR1 | c.6325G>A (p.Gly2109Ser) c.4975G>A (p.Gly1659Ser) c.1180-4869G>A c.6340G>A (p.Gly2114Ser) c.4990G>A (p.Gly1664Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.207611706G>C | CA344544977 | CR1 | c.6325G>C (p.Gly2109Arg) c.4975G>C (p.Gly1659Arg) c.1180-4869G>C c.6340G>C (p.Gly2114Arg) c.4990G>C (p.Gly1664Arg) | |
1 | g.207611706G= | CA1143636124 | CR1 | c.6325G= (p.Gly2109=) c.4975G= (p.Gly1659=) c.1180-4869G= c.6340G= (p.Gly2114=) c.4990G= (p.Gly1664=) | |
1 | g.207611706G>T | CA344544978 | CR1 | c.6325G>T (p.Gly2109Cys) c.4975G>T (p.Gly1659Cys) c.1180-4869G>T c.6340G>T (p.Gly2114Cys) c.4990G>T (p.Gly1664Cys) | |
1 | g.207611707G>A | CA344544979 | CR1 | c.6326G>A (p.Gly2109Asp) c.4976G>A (p.Gly1659Asp) c.1180-4868G>A c.6341G>A (p.Gly2114Asp) c.4991G>A (p.Gly1664Asp) | gnomAD v4 |
1 | g.207611707G>C | CA344544980 | CR1 | c.6326G>C (p.Gly2109Ala) c.4976G>C (p.Gly1659Ala) c.1180-4868G>C c.6341G>C (p.Gly2114Ala) c.4991G>C (p.Gly1664Ala) | |
1 | g.207611707G>T | CA344544981 | CR1 | c.6326G>T (p.Gly2109Val) c.4976G>T (p.Gly1659Val) c.1180-4868G>T c.6341G>T (p.Gly2114Val) c.4991G>T (p.Gly1664Val) | COSMIC COSMIC |
1 | g.207611708T>A | CA422972756 | CR1 | c.6327T>A (p.Gly2109=) c.4977T>A (p.Gly1659=) c.1180-4867T>A c.6342T>A (p.Gly2114=) c.4992T>A (p.Gly1664=) | dbSNP |
1 | g.207611708T>C | CA422972753 | CR1 | c.6327T>C (p.Gly2109=) c.4977T>C (p.Gly1659=) c.1180-4867T>C c.6342T>C (p.Gly2114=) c.4992T>C (p.Gly1664=) | |
1 | g.207611708T>G | CA422972754 | CR1 | c.6327T>G (p.Gly2109=) c.4977T>G (p.Gly1659=) c.1180-4867T>G c.6342T>G (p.Gly2114=) c.4992T>G (p.Gly1664=) | |
1 | g.207611708T= | CA2483456530 | CR1 | c.6327T= (p.Gly2109=) c.4977T= (p.Gly1659=) c.1180-4867T= c.6342T= (p.Gly2114=) c.4992T= (p.Gly1664=) | |
1 | g.207611709G>A | CA344544982 | CR1 | c.6328G>A (p.Glu2110Lys) c.4978G>A (p.Glu1660Lys) c.1180-4866G>A c.6343G>A (p.Glu2115Lys) c.4993G>A (p.Glu1665Lys) | |
1 | g.207611709G>C | CA344544984 | CR1 | c.6328G>C (p.Glu2110Gln) c.4978G>C (p.Glu1660Gln) c.1180-4866G>C c.6343G>C (p.Glu2115Gln) c.4993G>C (p.Glu1665Gln) | |
1 | g.207611709G>T | CA344544983 | CR1 | c.6328G>T (p.Glu2110Ter) c.4978G>T (p.Glu1660Ter) c.1180-4866G>T c.6343G>T (p.Glu2115Ter) c.4993G>T (p.Glu1665Ter) | |
1 | g.207611710A>C | CA344544985 | CR1 | c.6329A>C (p.Glu2110Ala) c.4979A>C (p.Glu1660Ala) c.1180-4865A>C c.6344A>C (p.Glu2115Ala) c.4994A>C (p.Glu1665Ala) | |
1 | g.207611710A>G | CA344544986 | CR1 | c.6329A>G (p.Glu2110Gly) c.4979A>G (p.Glu1660Gly) c.1180-4865A>G c.6344A>G (p.Glu2115Gly) c.4994A>G (p.Glu1665Gly) | |
1 | g.207611710A>T | CA344544987 | CR1 | c.6329A>T (p.Glu2110Val) c.4979A>T (p.Glu1660Val) c.1180-4865A>T c.6344A>T (p.Glu2115Val) c.4994A>T (p.Glu1665Val) | |
1 | g.207611711G>A | CA422972764 | CR1 | c.6330G>A (p.Glu2110=) c.4980G>A (p.Glu1660=) c.1180-4864G>A c.6345G>A (p.Glu2115=) c.4995G>A (p.Glu1665=) | |
1 | g.207611711G>C | CA344544988 | CR1 | c.6330G>C (p.Glu2110Asp) c.4980G>C (p.Glu1660Asp) c.1180-4864G>C c.6345G>C (p.Glu2115Asp) c.4995G>C (p.Glu1665Asp) | |
1 | g.207611711G>T | CA344544989 | CR1 | c.6330G>T (p.Glu2110Asp) c.4980G>T (p.Glu1660Asp) c.1180-4864G>T c.6345G>T (p.Glu2115Asp) c.4995G>T (p.Glu1665Asp) | |
1 | g.207611712C>A | CA344544990 | CR1 | c.6331C>A (p.His2111Asn) c.4981C>A (p.His1661Asn) c.1180-4863C>A c.6346C>A (p.His2116Asn) c.4996C>A (p.His1666Asn) | gnomAD v4 |
1 | g.207611712C>G | CA344544991 | CR1 | c.6331C>G (p.His2111Asp) c.4981C>G (p.His1661Asp) c.1180-4863C>G c.6346C>G (p.His2116Asp) c.4996C>G (p.His1666Asp) | |
1 | g.207611712C>T | CA344544992 | CR1 | c.6331C>T (p.His2111Tyr) c.4981C>T (p.His1661Tyr) c.1180-4863C>T c.6346C>T (p.His2116Tyr) c.4996C>T (p.His1666Tyr) | |
1 | g.207611713A= | CA1149115085 | CR1 | c.6332A= (p.His2111=) c.4982A= (p.His1661=) c.1180-4862A= c.6347A= (p.His2116=) c.4997A= (p.His1666=) | |
1 | g.207611713A>C | CA344544993 | CR1 | c.6332A>C (p.His2111Pro) c.4982A>C (p.His1661Pro) c.1180-4862A>C c.6347A>C (p.His2116Pro) c.4997A>C (p.His1666Pro) | |
1 | g.207611713A>G | CA1370421 | CR1 | c.6332A>G (p.His2111Arg) c.4982A>G (p.His1661Arg) c.1180-4862A>G c.6347A>G (p.His2116Arg) c.4997A>G (p.His1666Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.207611713A>T | CA344544994 | CR1 | c.6332A>T (p.His2111Leu) c.4982A>T (p.His1661Leu) c.1180-4862A>T c.6347A>T (p.His2116Leu) c.4997A>T (p.His1666Leu) | |
1 | g.207611714T>A | CA344544996 | CR1 | c.6333T>A (p.His2111Gln) c.4983T>A (p.His1661Gln) c.1180-4861T>A c.6348T>A (p.His2116Gln) c.4998T>A (p.His1666Gln) | |
1 | g.207611714T>C | CA422972777 | CR1 | c.6333T>C (p.His2111=) c.4983T>C (p.His1661=) c.1180-4861T>C c.6348T>C (p.His2116=) c.4998T>C (p.His1666=) | |
1 | g.207611714T>G | CA344544995 | CR1 | c.6333T>G (p.His2111Gln) c.4983T>G (p.His1661Gln) c.1180-4861T>G c.6348T>G (p.His2116Gln) c.4998T>G (p.His1666Gln) | |
1 | g.207611715A>C | CA344544997 | CR1 | c.6334A>C (p.Thr2112Pro) c.4984A>C (p.Thr1662Pro) c.1180-4860A>C c.6349A>C (p.Thr2117Pro) c.4999A>C (p.Thr1667Pro) | |
1 | g.207611715A>G | CA344544999 | CR1 | c.6334A>G (p.Thr2112Ala) c.4984A>G (p.Thr1662Ala) c.1180-4860A>G c.6349A>G (p.Thr2117Ala) c.4999A>G (p.Thr1667Ala) | |
1 | g.207611715A>T | CA344544998 | CR1 | c.6334A>T (p.Thr2112Ser) c.4984A>T (p.Thr1662Ser) c.1180-4860A>T c.6349A>T (p.Thr2117Ser) c.4999A>T (p.Thr1667Ser) | |
1 | g.207611715_207611716delinsAC | CA2483456531 | CR1 | c.6334_6335delinsAC (p.Thr2112=) c.4984_4985delinsAC (p.Thr1662=) c.1180-4860_1180-4859delinsAC c.6349_6350delinsAC (p.Thr2117=) c.4999_5000delinsAC (p.Thr1667=) | |
1 | g.207611716C>A | CA344545000 | CR1 | c.6335C>A (p.Thr2112Asn) c.4985C>A (p.Thr1662Asn) c.1180-4859C>A c.6350C>A (p.Thr2117Asn) c.5000C>A (p.Thr1667Asn) | gnomAD v4 |
1 | g.207611716C= | CA2483456532 | CR1 | c.6335C= (p.Thr2112=) c.4985C= (p.Thr1662=) c.1180-4859C= c.6350C= (p.Thr2117=) c.5000C= (p.Thr1667=) | |
1 | g.207611716C>G | CA344545001 | CR1 | c.6335C>G (p.Thr2112Ser) c.4985C>G (p.Thr1662Ser) c.1180-4859C>G c.6350C>G (p.Thr2117Ser) c.5000C>G (p.Thr1667Ser) | |
1 | g.207611716C>T | CA344545002 | CR1 | c.6335C>T (p.Thr2112Ile) c.4985C>T (p.Thr1662Ile) c.1180-4859C>T c.6350C>T (p.Thr2117Ile) c.5000C>T (p.Thr1667Ile) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.207611718del | CA528999500 | CR1 | c.6337del (p.Leu2113Ter) c.4987del (p.Leu1663Ter) c.1180-4857del c.6352del (p.Leu2118Ter) c.5002del (p.Leu1668Ter) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.207611717C>A | CA422972784 | CR1 | c.6336C>A (p.Thr2112=) c.4986C>A (p.Thr1662=) c.1180-4858C>A c.6351C>A (p.Thr2117=) c.5001C>A (p.Thr1667=) | |
1 | g.207611717C>G | CA422972785 | CR1 | c.6336C>G (p.Thr2112=) c.4986C>G (p.Thr1662=) c.1180-4858C>G c.6351C>G (p.Thr2117=) c.5001C>G (p.Thr1667=) | |
1 | g.207611717C>T | CA422972787 | CR1 | c.6336C>T (p.Thr2112=) c.4986C>T (p.Thr1662=) c.1180-4858C>T c.6351C>T (p.Thr2117=) c.5001C>T (p.Thr1667=) | |
1 | g.207611718C>A | CA344545003 | CR1 | c.6337C>A (p.Leu2113Ile) c.4987C>A (p.Leu1663Ile) c.1180-4857C>A c.6352C>A (p.Leu2118Ile) c.5002C>A (p.Leu1668Ile) | |
1 | g.207611718C>G | CA344545004 | CR1 | c.6337C>G (p.Leu2113Val) c.4987C>G (p.Leu1663Val) c.1180-4857C>G c.6352C>G (p.Leu2118Val) c.5002C>G (p.Leu1668Val) | gnomAD v4 |
1 | g.207611718C>T | CA422972790 | CR1 | c.6337C>T (p.Leu2113=) c.4987C>T (p.Leu1663=) c.1180-4857C>T c.6352C>T (p.Leu2118=) c.5002C>T (p.Leu1668=) | COSMIC COSMIC |
1 | g.207611719T>A | CA344545005 | CR1 | c.6338T>A (p.Leu2113Gln) c.4988T>A (p.Leu1663Gln) c.1180-4856T>A c.6353T>A (p.Leu2118Gln) c.5003T>A (p.Leu1668Gln) | gnomAD v4 |
1 | g.207611719T>C | CA344545006 | CR1 | c.6338T>C (p.Leu2113Pro) c.4988T>C (p.Leu1663Pro) c.1180-4856T>C c.6353T>C (p.Leu2118Pro) c.5003T>C (p.Leu1668Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.207611719T>G | CA344545007 | CR1 | c.6338T>G (p.Leu2113Arg) c.4988T>G (p.Leu1663Arg) c.1180-4856T>G c.6353T>G (p.Leu2118Arg) c.5003T>G (p.Leu1668Arg) | |
1 | g.207611719T= | CA2483456533 | CR1 | c.6338T= (p.Leu2113=) c.4988T= (p.Leu1663=) c.1180-4856T= c.6353T= (p.Leu2118=) c.5003T= (p.Leu1668=) | |
1 | g.207611720A>C | CA422972795 | CR1 | c.6339A>C (p.Leu2113=) c.4989A>C (p.Leu1663=) c.1180-4855A>C c.6354A>C (p.Leu2118=) c.5004A>C (p.Leu1668=) | |
1 | g.207611720A>G | CA422972797 | CR1 | c.6339A>G (p.Leu2113=) c.4989A>G (p.Leu1663=) c.1180-4855A>G c.6354A>G (p.Leu2118=) c.5004A>G (p.Leu1668=) | |
1 | g.207611720A>T | CA422972798 | CR1 | c.6339A>T (p.Leu2113=) c.4989A>T (p.Leu1663=) c.1180-4855A>T c.6354A>T (p.Leu2118=) c.5004A>T (p.Leu1668=) | |
1 | g.207611721A>C | CA344545008 | CR1 | c.6340A>C (p.Ser2114Arg) c.4990A>C (p.Ser1664Arg) c.1180-4854A>C c.6355A>C (p.Ser2119Arg) c.5005A>C (p.Ser1669Arg) | |
1 | g.207611721A>G | CA344545009 | CR1 | c.6340A>G (p.Ser2114Gly) c.4990A>G (p.Ser1664Gly) c.1180-4854A>G c.6355A>G (p.Ser2119Gly) c.5005A>G (p.Ser1669Gly) | |
1 | g.207611721A>T | CA344545010 | CR1 | c.6340A>T (p.Ser2114Cys) c.4990A>T (p.Ser1664Cys) c.1180-4854A>T c.6355A>T (p.Ser2119Cys) c.5005A>T (p.Ser1669Cys) | |
1 | g.207611722G>A | CA344545011 | CR1 | c.6341G>A (p.Ser2114Asn) c.4991G>A (p.Ser1664Asn) c.1180-4853G>A c.6356G>A (p.Ser2119Asn) c.5006G>A (p.Ser1669Asn) | |
1 | g.207611722G>C | CA344545012 | CR1 | c.6341G>C (p.Ser2114Thr) c.4991G>C (p.Ser1664Thr) c.1180-4853G>C c.6356G>C (p.Ser2119Thr) c.5006G>C (p.Ser1669Thr) | |
1 | g.207611722G>T | CA344545013 | CR1 | c.6341G>T (p.Ser2114Ile) c.4991G>T (p.Ser1664Ile) c.1180-4853G>T c.6356G>T (p.Ser2119Ile) c.5006G>T (p.Ser1669Ile) | |
1 | g.207611723C>A | CA344545014 | CR1 | c.6342C>A (p.Ser2114Arg) c.4992C>A (p.Ser1664Arg) c.1180-4852C>A c.6357C>A (p.Ser2119Arg) c.5007C>A (p.Ser1669Arg) | |
1 | g.207611723C>G | CA344545015 | CR1 | c.6342C>G (p.Ser2114Arg) c.4992C>G (p.Ser1664Arg) c.1180-4852C>G c.6357C>G (p.Ser2119Arg) c.5007C>G (p.Ser1669Arg) | |
1 | g.207611723C>T | CA422972808 | CR1 | c.6342C>T (p.Ser2114=) c.4992C>T (p.Ser1664=) c.1180-4852C>T c.6357C>T (p.Ser2119=) c.5007C>T (p.Ser1669=) | |
1 | g.207611724C>A | CA344545016 | CR1 | c.6343C>A (p.His2115Asn) c.4993C>A (p.His1665Asn) c.1180-4851C>A c.6358C>A (p.His2120Asn) c.5008C>A (p.His1670Asn) | |
1 | g.207611724C>G | CA344545017 | CR1 | c.6343C>G (p.His2115Asp) c.4993C>G (p.His1665Asp) c.1180-4851C>G c.6358C>G (p.His2120Asp) c.5008C>G (p.His1670Asp) | |
1 | g.207611724C>T | CA344545018 | CR1 | c.6343C>T (p.His2115Tyr) c.4993C>T (p.His1665Tyr) c.1180-4851C>T c.6358C>T (p.His2120Tyr) c.5008C>T (p.His1670Tyr) | gnomAD v3 gnomAD v4 |
1 | g.207611725A>C | CA344545019 | CR1 | c.6344A>C (p.His2115Pro) c.4994A>C (p.His1665Pro) c.1180-4850A>C c.6359A>C (p.His2120Pro) c.5009A>C (p.His1670Pro) | |
1 | g.207611725A>G | CA344545020 | CR1 | c.6344A>G (p.His2115Arg) c.4994A>G (p.His1665Arg) c.1180-4850A>G c.6359A>G (p.His2120Arg) c.5009A>G (p.His1670Arg) | |
1 | g.207611725A>T | CA344545021 | CR1 | c.6344A>T (p.His2115Leu) c.4994A>T (p.His1665Leu) c.1180-4850A>T c.6359A>T (p.His2120Leu) c.5009A>T (p.His1670Leu) | |
1 | g.207611726T>A | CA344545022 | CR1 | c.6345T>A (p.His2115Gln) c.4995T>A (p.His1665Gln) c.1180-4849T>A c.6360T>A (p.His2120Gln) c.5010T>A (p.His1670Gln) | |
1 | g.207611726T>C | CA422972817 | CR1 | c.6345T>C (p.His2115=) c.4995T>C (p.His1665=) c.1180-4849T>C c.6360T>C (p.His2120=) c.5010T>C (p.His1670=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.207611726T>G | CA344545023 | CR1 | c.6345T>G (p.His2115Gln) c.4995T>G (p.His1665Gln) c.1180-4849T>G c.6360T>G (p.His2120Gln) c.5010T>G (p.His1670Gln) | |
1 | g.207611726T= | CA2483456534 | CR1 | c.6345T= (p.His2115=) c.4995T= (p.His1665=) c.1180-4849T= c.6360T= (p.His2120=) c.5010T= (p.His1670=) | |
1 | g.207611727C>A | CA344545024 | CR1 | c.6346C>A (p.Gln2116Lys) c.4996C>A (p.Gln1666Lys) c.1180-4848C>A c.6361C>A (p.Gln2121Lys) c.5011C>A (p.Gln1671Lys) | |
1 | g.207611727C= | CA2483456535 | CR1 | c.6346C= (p.Gln2116=) c.4996C= (p.Gln1666=) c.1180-4848C= c.6361C= (p.Gln2121=) c.5011C= (p.Gln1671=) | |
1 | g.207611727C>G | CA36655196 | CR1 | c.6346C>G (p.Gln2116Glu) c.4996C>G (p.Gln1666Glu) c.1180-4848C>G c.6361C>G (p.Gln2121Glu) c.5011C>G (p.Gln1671Glu) | dbSNP |
1 | g.207611727C>T | CA36655198 | CR1 | c.6346C>T (p.Gln2116Ter) c.4996C>T (p.Gln1666Ter) c.1180-4848C>T c.6361C>T (p.Gln2121Ter) c.5011C>T (p.Gln1671Ter) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.207611728A>C | CA344545027 | CR1 | c.6347A>C (p.Gln2116Pro) c.4997A>C (p.Gln1666Pro) c.1180-4847A>C c.6362A>C (p.Gln2121Pro) c.5012A>C (p.Gln1671Pro) | |
1 | g.207611728A>G | CA344545026 | CR1 | c.6347A>G (p.Gln2116Arg) c.4997A>G (p.Gln1666Arg) c.1180-4847A>G c.6362A>G (p.Gln2121Arg) c.5012A>G (p.Gln1671Arg) | gnomAD v4 |
1 | g.207611728A>T | CA344545025 | CR1 | c.6347A>T (p.Gln2116Leu) c.4997A>T (p.Gln1666Leu) c.1180-4847A>T c.6362A>T (p.Gln2121Leu) c.5012A>T (p.Gln1671Leu) | |
1 | g.207611729G>A | CA1370422 | CR1 | c.6348G>A (p.Gln2116=) c.4998G>A (p.Gln1666=) c.1180-4846G>A c.6363G>A (p.Gln2121=) c.5013G>A (p.Gln1671=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.207611729G>C | CA344545028 | CR1 | c.6348G>C (p.Gln2116His) c.4998G>C (p.Gln1666His) c.1180-4846G>C c.6363G>C (p.Gln2121His) c.5013G>C (p.Gln1671His) | |
1 | g.207611729G= | CA2483456536 | CR1 | c.6348G= (p.Gln2116=) c.4998G= (p.Gln1666=) c.1180-4846G= c.6363G= (p.Gln2121=) c.5013G= (p.Gln1671=) | |
1 | g.207611729G>T | CA344545029 | CR1 | c.6348G>T (p.Gln2116His) c.4998G>T (p.Gln1666His) c.1180-4846G>T c.6363G>T (p.Gln2121His) c.5013G>T (p.Gln1671His) | |
1 | g.207611730G>A | CA344545030 | CR1 | c.6349G>A (p.Asp2117Asn) c.4999G>A (p.Asp1667Asn) c.1180-4845G>A c.6364G>A (p.Asp2122Asn) c.5014G>A (p.Asp1672Asn) | gnomAD v4 |
1 | g.207611730G>C | CA344545031 | CR1 | c.6349G>C (p.Asp2117His) c.4999G>C (p.Asp1667His) c.1180-4845G>C c.6364G>C (p.Asp2122His) c.5014G>C (p.Asp1672His) | |
1 | g.207611730G>T | CA344545032 | CR1 | c.6349G>T (p.Asp2117Tyr) c.4999G>T (p.Asp1667Tyr) c.1180-4845G>T c.6364G>T (p.Asp2122Tyr) c.5014G>T (p.Asp1672Tyr) | |
1 | g.207611731A>C | CA344545035 | CR1 | c.6350A>C (p.Asp2117Ala) c.5000A>C (p.Asp1667Ala) c.1180-4844A>C c.6365A>C (p.Asp2122Ala) c.5015A>C (p.Asp1672Ala) | |
1 | g.207611731A>G | CA344545034 | CR1 | c.6350A>G (p.Asp2117Gly) c.5000A>G (p.Asp1667Gly) c.1180-4844A>G c.6365A>G (p.Asp2122Gly) c.5015A>G (p.Asp1672Gly) | gnomAD v4 |
1 | g.207611731A>T | CA344545033 | CR1 | c.6350A>T (p.Asp2117Val) c.5000A>T (p.Asp1667Val) c.1180-4844A>T c.6365A>T (p.Asp2122Val) c.5015A>T (p.Asp1672Val) | |
1 | g.207611733_207611735del | CA2650269920 | CR1 | c.6352_6354del (p.Asn2118del) c.5002_5004del (p.Asn1668del) c.1180-4842_1180-4840del c.6367_6369del (p.Asn2123del) c.5017_5019del (p.Asn1673del) | gnomAD v4 |
1 | g.207611732C>A | CA344545036 | CR1 | c.6351C>A (p.Asp2117Glu) c.5001C>A (p.Asp1667Glu) c.1180-4843C>A c.6366C>A (p.Asp2122Glu) c.5016C>A (p.Asp1672Glu) | |
1 | g.207611732C= | CA1147040781 | CR1 | c.6351C= (p.Asp2117=) c.5001C= (p.Asp1667=) c.1180-4843C= c.6366C= (p.Asp2122=) c.5016C= (p.Asp1672=) | |
1 | g.207611732C>G | CA344545037 | CR1 | c.6351C>G (p.Asp2117Glu) c.5001C>G (p.Asp1667Glu) c.1180-4843C>G c.6366C>G (p.Asp2122Glu) c.5016C>G (p.Asp1672Glu) | |
1 | g.207611732C>T | CA1370423 | CR1 | c.6351C>T (p.Asp2117=) c.5001C>T (p.Asp1667=) c.1180-4843C>T c.6366C>T (p.Asp2122=) c.5016C>T (p.Asp1672=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.207611733A>C | CA344545038 | CR1 | c.6352A>C (p.Asn2118His) c.5002A>C (p.Asn1668His) c.1180-4842A>C c.6367A>C (p.Asn2123His) c.5017A>C (p.Asn1673His) | |
1 | g.207611733A>G | CA344545039 | CR1 | c.6352A>G (p.Asn2118Asp) c.5002A>G (p.Asn1668Asp) c.1180-4842A>G c.6367A>G (p.Asn2123Asp) c.5017A>G (p.Asn1673Asp) | |
1 | g.207611733A>T | CA344545040 | CR1 | c.6352A>T (p.Asn2118Tyr) c.5002A>T (p.Asn1668Tyr) c.1180-4842A>T c.6367A>T (p.Asn2123Tyr) c.5017A>T (p.Asn1673Tyr) | |
1 | g.207611734A>C | CA344545041 | CR1 | c.6353A>C (p.Asn2118Thr) c.5003A>C (p.Asn1668Thr) c.1180-4841A>C c.6368A>C (p.Asn2123Thr) c.5018A>C (p.Asn1673Thr) | |
1 | g.207611734A>G | CA344545043 | CR1 | c.6353A>G (p.Asn2118Ser) c.5003A>G (p.Asn1668Ser) c.1180-4841A>G c.6368A>G (p.Asn2123Ser) c.5018A>G (p.Asn1673Ser) | |
1 | g.207611734A>T | CA344545042 | CR1 | c.6353A>T (p.Asn2118Ile) c.5003A>T (p.Asn1668Ile) c.1180-4841A>T c.6368A>T (p.Asn2123Ile) c.5018A>T (p.Asn1673Ile) | |
1 | g.207611735del | CA2650269921 | CR1 | c.6354del (p.Ser2120HisfsTer?) c.5004del (p.Ser1670HisfsTer?) c.1180-4840del c.6369del (p.Ser2125HisfsTer?) c.5019del (p.Ser1675HisfsTer?) | gnomAD v4 |
1 | g.207611735C>A | CA1370424 | CR1 | c.6354C>A (p.Asn2118Lys) c.5004C>A (p.Asn1668Lys) c.1180-4840C>A c.6369C>A (p.Asn2123Lys) c.5019C>A (p.Asn1673Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.207611735C= | CA1149040170 | CR1 | c.6354C= (p.Asn2118=) c.5004C= (p.Asn1668=) c.1180-4840C= c.6369C= (p.Asn2123=) c.5019C= (p.Asn1673=) | |
1 | g.207611735C>G | CA344545044 | CR1 | c.6354C>G (p.Asn2118Lys) c.5004C>G (p.Asn1668Lys) c.1180-4840C>G c.6369C>G (p.Asn2123Lys) c.5019C>G (p.Asn1673Lys) | |
1 | g.207611735C>T | CA422972842 | CR1 | c.6354C>T (p.Asn2118=) c.5004C>T (p.Asn1668=) c.1180-4840C>T c.6369C>T (p.Asn2123=) c.5019C>T (p.Asn1673=) | |
1 | g.207611735_207611736delinsCT | CA2483456537 | CR1 | c.6354_6355delinsCT (p.Asn2118=) c.5004_5005delinsCT (p.Asn1668=) c.1180-4840_1180-4839delinsCT c.6369_6370delinsCT (p.Asn2123=) c.5019_5020delinsCT (p.Asn1673=) |