SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.89282571_89282578del | CA645595315 | ANKRD11 | c.3964_3971del (p.Glu1322PhefsTer18) c.*3767_*3774del (n.*3767_*3774del) c.744+5950_744+5957del (n.744+5950_744+5957del) c.151+5950_151+5957del c.3862_3869del (p.Glu1288PhefsTer18) c.3667_3674del (p.Glu1223PhefsTer18) c.3835_3842del (p.Glu1279PhefsTer18) | COSMIC |
| 16 | g.89282572A>C | CA397158604 | ANKRD11 | c.3970T>G (p.Ser1324Ala) c.*3773T>G (n.*3773T>G) c.744+5956T>G (n.744+5956T>G) c.151+5956T>G c.3868T>G (p.Ser1290Ala) c.3673T>G (p.Ser1225Ala) c.3841T>G (p.Ser1281Ala) | |
| 16 | g.89282572A>G | CA397158603 | ANKRD11 | c.3970T>C (p.Ser1324Pro) c.*3773T>C (n.*3773T>C) c.744+5956T>C (n.744+5956T>C) c.151+5956T>C c.3868T>C (p.Ser1290Pro) c.3673T>C (p.Ser1225Pro) c.3841T>C (p.Ser1281Pro) | |
| 16 | g.89282572A>T | CA397158602 | ANKRD11 | c.3970T>A (p.Ser1324Thr) c.*3773T>A (n.*3773T>A) c.744+5956T>A (n.744+5956T>A) c.151+5956T>A c.3868T>A (p.Ser1290Thr) c.3673T>A (p.Ser1225Thr) c.3841T>A (p.Ser1281Thr) | |
| 16 | g.89282573G>A | CA8242240 | ANKRD11 | c.3969C>T (p.Val1323=) c.*3772C>T (n.*3772C>T) c.744+5955C>T (n.744+5955C>T) c.151+5955C>T c.3867C>T (p.Val1289=) c.3672C>T (p.Val1224=) c.3840C>T (p.Val1280=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89282573G>C | CA497374240 | ANKRD11 | c.3969C>G (p.Val1323=) c.*3772C>G (n.*3772C>G) c.744+5955C>G (n.744+5955C>G) c.151+5955C>G c.3867C>G (p.Val1289=) c.3672C>G (p.Val1224=) c.3840C>G (p.Val1280=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89282573G= | CA2241603272 | ANKRD11 | c.3969C= (p.Val1323=) c.*3772C= (n.*3772C=) c.744+5955C= (n.744+5955C=) c.151+5955C= c.3867C= (p.Val1289=) c.3672C= (p.Val1224=) c.3840C= (p.Val1280=) | |
| 16 | g.89282573G>T | CA497374243 | ANKRD11 | c.3969C>A (p.Val1323=) c.*3772C>A (n.*3772C>A) c.744+5955C>A (n.744+5955C>A) c.151+5955C>A c.3867C>A (p.Val1289=) c.3672C>A (p.Val1224=) c.3840C>A (p.Val1280=) | gnomAD v4 |
| 16 | g.89282574A>C | CA397158605 | ANKRD11 | c.3968T>G (p.Val1323Gly) c.*3771T>G (n.*3771T>G) c.744+5954T>G (n.744+5954T>G) c.151+5954T>G c.3866T>G (p.Val1289Gly) c.3671T>G (p.Val1224Gly) c.3839T>G (p.Val1280Gly) | |
| 16 | g.89282574A>G | CA397158606 | ANKRD11 | c.3968T>C (p.Val1323Ala) c.*3771T>C (n.*3771T>C) c.744+5954T>C (n.744+5954T>C) c.151+5954T>C c.3866T>C (p.Val1289Ala) c.3671T>C (p.Val1224Ala) c.3839T>C (p.Val1280Ala) | gnomAD v4 |
| 16 | g.89282574A>T | CA397158607 | ANKRD11 | c.3968T>A (p.Val1323Asp) c.*3771T>A (n.*3771T>A) c.744+5954T>A (n.744+5954T>A) c.151+5954T>A c.3866T>A (p.Val1289Asp) c.3671T>A (p.Val1224Asp) c.3839T>A (p.Val1280Asp) | gnomAD v4 |
| 16 | g.89282575C>A | CA397158608 | ANKRD11 | c.3967G>T (p.Val1323Phe) c.*3770G>T (n.*3770G>T) c.744+5953G>T (n.744+5953G>T) c.151+5953G>T c.3865G>T (p.Val1289Phe) c.3670G>T (p.Val1224Phe) c.3838G>T (p.Val1280Phe) | |
| 16 | g.89282575C= | CA2241603275 | ANKRD11 | c.3967G= (p.Val1323=) c.*3770G= (n.*3770G=) c.744+5953G= (n.744+5953G=) c.151+5953G= c.3865G= (p.Val1289=) c.3670G= (p.Val1224=) c.3838G= (p.Val1280=) | |
| 16 | g.89282575C>G | CA397158609 | ANKRD11 | c.3967G>C (p.Val1323Leu) c.*3770G>C (n.*3770G>C) c.744+5953G>C (n.744+5953G>C) c.151+5953G>C c.3865G>C (p.Val1289Leu) c.3670G>C (p.Val1224Leu) c.3838G>C (p.Val1280Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89282575C>T | CA397158610 | ANKRD11 | c.3967G>A (p.Val1323Ile) c.*3770G>A (n.*3770G>A) c.744+5953G>A (n.744+5953G>A) c.151+5953G>A c.3865G>A (p.Val1289Ile) c.3670G>A (p.Val1224Ile) c.3838G>A (p.Val1280Ile) | gnomAD v4 |
| 16 | g.89282576C>A | CA397158611 | ANKRD11 | c.3966G>T (p.Glu1322Asp) c.*3769G>T (n.*3769G>T) c.744+5952G>T (n.744+5952G>T) c.151+5952G>T c.3864G>T (p.Glu1288Asp) c.3669G>T (p.Glu1223Asp) c.3837G>T (p.Glu1279Asp) | |
| 16 | g.89282576C= | CA2241603277 | ANKRD11 | c.3966G= (p.Glu1322=) c.*3769G= (n.*3769G=) c.744+5952G= (n.744+5952G=) c.151+5952G= c.3864G= (p.Glu1288=) c.3669G= (p.Glu1223=) c.3837G= (p.Glu1279=) | |
| 16 | g.89282576C>G | CA397158612 | ANKRD11 | c.3966G>C (p.Glu1322Asp) c.*3769G>C (n.*3769G>C) c.744+5952G>C (n.744+5952G>C) c.151+5952G>C c.3864G>C (p.Glu1288Asp) c.3669G>C (p.Glu1223Asp) c.3837G>C (p.Glu1279Asp) | |
| 16 | g.89282576C>T | CA497374248 | ANKRD11 | c.3966G>A (p.Glu1322=) c.*3769G>A (n.*3769G>A) c.744+5952G>A (n.744+5952G>A) c.151+5952G>A c.3864G>A (p.Glu1288=) c.3669G>A (p.Glu1223=) c.3837G>A (p.Glu1279=) | dbSNP |
| 16 | g.89282577T>A | CA397158613 | ANKRD11 | c.3965A>T (p.Glu1322Val) c.*3768A>T (n.*3768A>T) c.744+5951A>T (n.744+5951A>T) c.151+5951A>T c.3863A>T (p.Glu1288Val) c.3668A>T (p.Glu1223Val) c.3836A>T (p.Glu1279Val) | |
| 16 | g.89282577T>C | CA397158614 | ANKRD11 | c.3965A>G (p.Glu1322Gly) c.*3768A>G (n.*3768A>G) c.744+5951A>G (n.744+5951A>G) c.151+5951A>G c.3863A>G (p.Glu1288Gly) c.3668A>G (p.Glu1223Gly) c.3836A>G (p.Glu1279Gly) | |
| 16 | g.89282577T>G | CA397158615 | ANKRD11 | c.3965A>C (p.Glu1322Ala) c.*3768A>C (n.*3768A>C) c.744+5951A>C (n.744+5951A>C) c.151+5951A>C c.3863A>C (p.Glu1288Ala) c.3668A>C (p.Glu1223Ala) c.3836A>C (p.Glu1279Ala) | |
| 16 | g.89282578C>A | CA397158617 | ANKRD11 | c.3964G>T (p.Glu1322Ter) c.*3767G>T (n.*3767G>T) c.744+5950G>T (n.744+5950G>T) c.151+5950G>T c.3862G>T (p.Glu1288Ter) c.3667G>T (p.Glu1223Ter) c.3835G>T (p.Glu1279Ter) | |
| 16 | g.89282578C>G | CA397158618 | ANKRD11 | c.3964G>C (p.Glu1322Gln) c.*3767G>C (n.*3767G>C) c.744+5950G>C (n.744+5950G>C) c.151+5950G>C c.3862G>C (p.Glu1288Gln) c.3667G>C (p.Glu1223Gln) c.3835G>C (p.Glu1279Gln) | |
| 16 | g.89282578C>T | CA397158616 | ANKRD11 | c.3964G>A (p.Glu1322Lys) c.*3767G>A (n.*3767G>A) c.744+5950G>A (n.744+5950G>A) c.151+5950G>A c.3862G>A (p.Glu1288Lys) c.3667G>A (p.Glu1223Lys) c.3835G>A (p.Glu1279Lys) | |
| 16 | g.89282579C>A | CA497374254 | ANKRD11 | c.3963G>T (p.Leu1321=) c.*3766G>T (n.*3766G>T) c.744+5949G>T (n.744+5949G>T) c.151+5949G>T c.3861G>T (p.Leu1287=) c.3666G>T (p.Leu1222=) c.3834G>T (p.Leu1278=) | gnomAD v4 COSMIC |
| 16 | g.89282579C= | CA2241603279 | ANKRD11 | c.3963G= (p.Leu1321=) c.*3766G= (n.*3766G=) c.744+5949G= (n.744+5949G=) c.151+5949G= c.3861G= (p.Leu1287=) c.3666G= (p.Leu1222=) c.3834G= (p.Leu1278=) | |
| 16 | g.89282579C>G | CA497374255 | ANKRD11 | c.3963G>C (p.Leu1321=) c.*3766G>C (n.*3766G>C) c.744+5949G>C (n.744+5949G>C) c.151+5949G>C c.3861G>C (p.Leu1287=) c.3666G>C (p.Leu1222=) c.3834G>C (p.Leu1278=) | |
| 16 | g.89282579C>T | CA8242241 | ANKRD11 | c.3963G>A (p.Leu1321=) c.*3766G>A (n.*3766G>A) c.744+5949G>A (n.744+5949G>A) c.151+5949G>A c.3861G>A (p.Leu1287=) c.3666G>A (p.Leu1222=) c.3834G>A (p.Leu1278=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89282580A>C | CA397158619 | ANKRD11 | c.3962T>G (p.Leu1321Arg) c.*3765T>G (n.*3765T>G) c.744+5948T>G (n.744+5948T>G) c.151+5948T>G c.3860T>G (p.Leu1287Arg) c.3665T>G (p.Leu1222Arg) c.3833T>G (p.Leu1278Arg) | gnomAD v4 |
| 16 | g.89282580A>G | CA397158620 | ANKRD11 | c.3962T>C (p.Leu1321Pro) c.*3765T>C (n.*3765T>C) c.744+5948T>C (n.744+5948T>C) c.151+5948T>C c.3860T>C (p.Leu1287Pro) c.3665T>C (p.Leu1222Pro) c.3833T>C (p.Leu1278Pro) | |
| 16 | g.89282580A>T | CA397158621 | ANKRD11 | c.3962T>A (p.Leu1321Gln) c.*3765T>A (n.*3765T>A) c.744+5948T>A (n.744+5948T>A) c.151+5948T>A c.3860T>A (p.Leu1287Gln) c.3665T>A (p.Leu1222Gln) c.3833T>A (p.Leu1278Gln) | gnomAD v4 |
| 16 | g.89282581G>A | CA497374257 | ANKRD11 | c.3961C>T (p.Leu1321=) c.*3764C>T (n.*3764C>T) c.744+5947C>T (n.744+5947C>T) c.151+5947C>T c.3859C>T (p.Leu1287=) c.3664C>T (p.Leu1222=) c.3832C>T (p.Leu1278=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89282581G>C | CA397158622 | ANKRD11 | c.3961C>G (p.Leu1321Val) c.*3764C>G (n.*3764C>G) c.744+5947C>G (n.744+5947C>G) c.151+5947C>G c.3859C>G (p.Leu1287Val) c.3664C>G (p.Leu1222Val) c.3832C>G (p.Leu1278Val) | |
| 16 | g.89282581G= | CA2241603282 | ANKRD11 | c.3961C= (p.Leu1321=) c.*3764C= (n.*3764C=) c.744+5947C= (n.744+5947C=) c.151+5947C= c.3859C= (p.Leu1287=) c.3664C= (p.Leu1222=) c.3832C= (p.Leu1278=) | |
| 16 | g.89282581G>T | CA397158623 | ANKRD11 | c.3961C>A (p.Leu1321Met) c.*3764C>A (n.*3764C>A) c.744+5947C>A (n.744+5947C>A) c.151+5947C>A c.3859C>A (p.Leu1287Met) c.3664C>A (p.Leu1222Met) c.3832C>A (p.Leu1278Met) | |
| 16 | g.89282582G>A | CA497374261 | ANKRD11 | c.3960C>T (p.Phe1320=) c.*3763C>T (n.*3763C>T) c.744+5946C>T (n.744+5946C>T) c.151+5946C>T c.3858C>T (p.Phe1286=) c.3663C>T (p.Phe1221=) c.3831C>T (p.Phe1277=) | gnomAD v4 |
| 16 | g.89282582G>C | CA397158624 | ANKRD11 | c.3960C>G (p.Phe1320Leu) c.*3763C>G (n.*3763C>G) c.744+5946C>G (n.744+5946C>G) c.151+5946C>G c.3858C>G (p.Phe1286Leu) c.3663C>G (p.Phe1221Leu) c.3831C>G (p.Phe1277Leu) | dbSNP |
| 16 | g.89282582G= | CA2241603283 | ANKRD11 | c.3960C= (p.Phe1320=) c.*3763C= (n.*3763C=) c.744+5946C= (n.744+5946C=) c.151+5946C= c.3858C= (p.Phe1286=) c.3663C= (p.Phe1221=) c.3831C= (p.Phe1277=) | |
| 16 | g.89282582G>T | CA397158625 | ANKRD11 | c.3960C>A (p.Phe1320Leu) c.*3763C>A (n.*3763C>A) c.744+5946C>A (n.744+5946C>A) c.151+5946C>A c.3858C>A (p.Phe1286Leu) c.3663C>A (p.Phe1221Leu) c.3831C>A (p.Phe1277Leu) | |
| 16 | g.89282583A>C | CA397158626 | ANKRD11 | c.3959T>G (p.Phe1320Cys) c.*3762T>G (n.*3762T>G) c.744+5945T>G (n.744+5945T>G) c.151+5945T>G c.3857T>G (p.Phe1286Cys) c.3662T>G (p.Phe1221Cys) c.3830T>G (p.Phe1277Cys) | |
| 16 | g.89282583A>G | CA397158628 | ANKRD11 | c.3959T>C (p.Phe1320Ser) c.*3762T>C (n.*3762T>C) c.744+5945T>C (n.744+5945T>C) c.151+5945T>C c.3857T>C (p.Phe1286Ser) c.3662T>C (p.Phe1221Ser) c.3830T>C (p.Phe1277Ser) | |
| 16 | g.89282583A>T | CA397158627 | ANKRD11 | c.3959T>A (p.Phe1320Tyr) c.*3762T>A (n.*3762T>A) c.744+5945T>A (n.744+5945T>A) c.151+5945T>A c.3857T>A (p.Phe1286Tyr) c.3662T>A (p.Phe1221Tyr) c.3830T>A (p.Phe1277Tyr) | |
| 16 | g.89282584A>C | CA397158629 | ANKRD11 | c.3958T>G (p.Phe1320Val) c.*3761T>G (n.*3761T>G) c.744+5944T>G (n.744+5944T>G) c.151+5944T>G c.3856T>G (p.Phe1286Val) c.3661T>G (p.Phe1221Val) c.3829T>G (p.Phe1277Val) | |
| 16 | g.89282584A>G | CA397158630 | ANKRD11 | c.3958T>C (p.Phe1320Leu) c.*3761T>C (n.*3761T>C) c.744+5944T>C (n.744+5944T>C) c.151+5944T>C c.3856T>C (p.Phe1286Leu) c.3661T>C (p.Phe1221Leu) c.3829T>C (p.Phe1277Leu) | |
| 16 | g.89282584A>T | CA397158631 | ANKRD11 | c.3958T>A (p.Phe1320Ile) c.*3761T>A (n.*3761T>A) c.744+5944T>A (n.744+5944T>A) c.151+5944T>A c.3856T>A (p.Phe1286Ile) c.3661T>A (p.Phe1221Ile) c.3829T>A (p.Phe1277Ile) | |
| 16 | g.89282585G>A | CA497374269 | ANKRD11 | c.3957C>T (p.Ala1319=) c.*3760C>T (n.*3760C>T) c.744+5943C>T (n.744+5943C>T) c.151+5943C>T c.3855C>T (p.Ala1285=) c.3660C>T (p.Ala1220=) c.3828C>T (p.Ala1276=) | gnomAD v4 |
| 16 | g.89282585G>C | CA497374270 | ANKRD11 | c.3957C>G (p.Ala1319=) c.*3760C>G (n.*3760C>G) c.744+5943C>G (n.744+5943C>G) c.151+5943C>G c.3855C>G (p.Ala1285=) c.3660C>G (p.Ala1220=) c.3828C>G (p.Ala1276=) | |
| 16 | g.89282585G= | CA2241603284 | ANKRD11 | c.3957C= (p.Ala1319=) c.*3760C= (n.*3760C=) c.744+5943C= (n.744+5943C=) c.151+5943C= c.3855C= (p.Ala1285=) c.3660C= (p.Ala1220=) c.3828C= (p.Ala1276=) | |
| 16 | g.89282585G>T | CA8242242 | ANKRD11 | c.3957C>A (p.Ala1319=) c.*3760C>A (n.*3760C>A) c.744+5943C>A (n.744+5943C>A) c.151+5943C>A c.3855C>A (p.Ala1285=) c.3660C>A (p.Ala1220=) c.3828C>A (p.Ala1276=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89282586G>A | CA397158632 | ANKRD11 | c.3956C>T (p.Ala1319Val) c.*3759C>T (n.*3759C>T) c.744+5942C>T (n.744+5942C>T) c.151+5942C>T c.3854C>T (p.Ala1285Val) c.3659C>T (p.Ala1220Val) c.3827C>T (p.Ala1276Val) | |
| 16 | g.89282586G>C | CA397158634 | ANKRD11 | c.3956C>G (p.Ala1319Gly) c.*3759C>G (n.*3759C>G) c.744+5942C>G (n.744+5942C>G) c.151+5942C>G c.3854C>G (p.Ala1285Gly) c.3659C>G (p.Ala1220Gly) c.3827C>G (p.Ala1276Gly) | |
| 16 | g.89282586G>T | CA397158633 | ANKRD11 | c.3956C>A (p.Ala1319Asp) c.*3759C>A (n.*3759C>A) c.744+5942C>A (n.744+5942C>A) c.151+5942C>A c.3854C>A (p.Ala1285Asp) c.3659C>A (p.Ala1220Asp) c.3827C>A (p.Ala1276Asp) | |
| 16 | g.89282587C>A | CA397158635 | ANKRD11 | c.3955G>T (p.Ala1319Ser) c.*3758G>T (n.*3758G>T) c.744+5941G>T (n.744+5941G>T) c.151+5941G>T c.3853G>T (p.Ala1285Ser) c.3658G>T (p.Ala1220Ser) c.3826G>T (p.Ala1276Ser) | |
| 16 | g.89282587C= | CA2241603285 | ANKRD11 | c.3955G= (p.Ala1319=) c.*3758G= (n.*3758G=) c.744+5941G= (n.744+5941G=) c.151+5941G= c.3853G= (p.Ala1285=) c.3658G= (p.Ala1220=) c.3826G= (p.Ala1276=) | |
| 16 | g.89282587C>G | CA397158636 | ANKRD11 | c.3955G>C (p.Ala1319Pro) c.*3758G>C (n.*3758G>C) c.744+5941G>C (n.744+5941G>C) c.151+5941G>C c.3853G>C (p.Ala1285Pro) c.3658G>C (p.Ala1220Pro) c.3826G>C (p.Ala1276Pro) | |
| 16 | g.89282587C>T | CA8242243 | ANKRD11 | c.3955G>A (p.Ala1319Thr) c.*3758G>A (n.*3758G>A) c.744+5941G>A (n.744+5941G>A) c.151+5941G>A c.3853G>A (p.Ala1285Thr) c.3658G>A (p.Ala1220Thr) c.3826G>A (p.Ala1276Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89282588A= | CA2241603286 | ANKRD11 | c.3954T= (p.Thr1318=) c.*3757T= (n.*3757T=) c.744+5940T= (n.744+5940T=) c.151+5940T= c.3852T= (p.Thr1284=) c.3657T= (p.Thr1219=) c.3825T= (p.Thr1275=) | |
| 16 | g.89282588A>C | CA8242244 | ANKRD11 | c.3954T>G (p.Thr1318=) c.*3757T>G (n.*3757T>G) c.744+5940T>G (n.744+5940T>G) c.151+5940T>G c.3852T>G (p.Thr1284=) c.3657T>G (p.Thr1219=) c.3825T>G (p.Thr1275=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89282588A>G | CA286516678 | ANKRD11 | c.3954T>C (p.Thr1318=) c.*3757T>C (n.*3757T>C) c.744+5940T>C (n.744+5940T>C) c.151+5940T>C c.3852T>C (p.Thr1284=) c.3657T>C (p.Thr1219=) c.3825T>C (p.Thr1275=) | dbSNP gnomAD v4 |
| 16 | g.89282588A>T | CA497374277 | ANKRD11 | c.3954T>A (p.Thr1318=) c.*3757T>A (n.*3757T>A) c.744+5940T>A (n.744+5940T>A) c.151+5940T>A c.3852T>A (p.Thr1284=) c.3657T>A (p.Thr1219=) c.3825T>A (p.Thr1275=) | |
| 16 | g.89282589G>A | CA397158637 | ANKRD11 | c.3953C>T (p.Thr1318Ile) c.*3756C>T (n.*3756C>T) c.744+5939C>T (n.744+5939C>T) c.151+5939C>T c.3851C>T (p.Thr1284Ile) c.3656C>T (p.Thr1219Ile) c.3824C>T (p.Thr1275Ile) | |
| 16 | g.89282589G>C | CA8242245 | ANKRD11 | c.3953C>G (p.Thr1318Ser) c.*3756C>G (n.*3756C>G) c.744+5939C>G (n.744+5939C>G) c.151+5939C>G c.3851C>G (p.Thr1284Ser) c.3656C>G (p.Thr1219Ser) c.3824C>G (p.Thr1275Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89282589G= | CA2241603289 | ANKRD11 | c.3953C= (p.Thr1318=) c.*3756C= (n.*3756C=) c.744+5939C= (n.744+5939C=) c.151+5939C= c.3851C= (p.Thr1284=) c.3656C= (p.Thr1219=) c.3824C= (p.Thr1275=) | |
| 16 | g.89282589G>T | CA397158638 | ANKRD11 | c.3953C>A (p.Thr1318Asn) c.*3756C>A (n.*3756C>A) c.744+5939C>A (n.744+5939C>A) c.151+5939C>A c.3851C>A (p.Thr1284Asn) c.3656C>A (p.Thr1219Asn) c.3824C>A (p.Thr1275Asn) | |
| 16 | g.89282590T>A | CA397158639 | ANKRD11 | c.3952A>T (p.Thr1318Ser) c.*3755A>T (n.*3755A>T) c.744+5938A>T (n.744+5938A>T) c.151+5938A>T c.3850A>T (p.Thr1284Ser) c.3655A>T (p.Thr1219Ser) c.3823A>T (p.Thr1275Ser) | |
| 16 | g.89282590T>C | CA397158640 | ANKRD11 | c.3952A>G (p.Thr1318Ala) c.*3755A>G (n.*3755A>G) c.744+5938A>G (n.744+5938A>G) c.151+5938A>G c.3850A>G (p.Thr1284Ala) c.3655A>G (p.Thr1219Ala) c.3823A>G (p.Thr1275Ala) | |
| 16 | g.89282590T>G | CA397158641 | ANKRD11 | c.3952A>C (p.Thr1318Pro) c.*3755A>C (n.*3755A>C) c.744+5938A>C (n.744+5938A>C) c.151+5938A>C c.3850A>C (p.Thr1284Pro) c.3655A>C (p.Thr1219Pro) c.3823A>C (p.Thr1275Pro) | |
| 16 | g.89282591C>A | CA497374283 | ANKRD11 | c.3951G>T (p.Leu1317=) c.*3754G>T (n.*3754G>T) c.744+5937G>T (n.744+5937G>T) c.151+5937G>T c.3849G>T (p.Leu1283=) c.3654G>T (p.Leu1218=) c.3822G>T (p.Leu1274=) | |
| 16 | g.89282591C= | CA2241603291 | ANKRD11 | c.3951G= (p.Leu1317=) c.*3754G= (n.*3754G=) c.744+5937G= (n.744+5937G=) c.151+5937G= c.3849G= (p.Leu1283=) c.3654G= (p.Leu1218=) c.3822G= (p.Leu1274=) | |
| 16 | g.89282591C>G | CA497374284 | ANKRD11 | c.3951G>C (p.Leu1317=) c.*3754G>C (n.*3754G>C) c.744+5937G>C (n.744+5937G>C) c.151+5937G>C c.3849G>C (p.Leu1283=) c.3654G>C (p.Leu1218=) c.3822G>C (p.Leu1274=) | dbSNP |
| 16 | g.89282591C>T | CA8242246 | ANKRD11 | c.3951G>A (p.Leu1317=) c.*3754G>A (n.*3754G>A) c.744+5937G>A (n.744+5937G>A) c.151+5937G>A c.3849G>A (p.Leu1283=) c.3654G>A (p.Leu1218=) c.3822G>A (p.Leu1274=) | dbSNP ExAC gnomAD v2 |
| 16 | g.89282592A>C | CA397158644 | ANKRD11 | c.3950T>G (p.Leu1317Arg) c.*3753T>G (n.*3753T>G) c.744+5936T>G (n.744+5936T>G) c.151+5936T>G c.3848T>G (p.Leu1283Arg) c.3653T>G (p.Leu1218Arg) c.3821T>G (p.Leu1274Arg) | |
| 16 | g.89282592A>G | CA397158643 | ANKRD11 | c.3950T>C (p.Leu1317Pro) c.*3753T>C (n.*3753T>C) c.744+5936T>C (n.744+5936T>C) c.151+5936T>C c.3848T>C (p.Leu1283Pro) c.3653T>C (p.Leu1218Pro) c.3821T>C (p.Leu1274Pro) | |
| 16 | g.89282592A>T | CA397158642 | ANKRD11 | c.3950T>A (p.Leu1317Gln) c.*3753T>A (n.*3753T>A) c.744+5936T>A (n.744+5936T>A) c.151+5936T>A c.3848T>A (p.Leu1283Gln) c.3653T>A (p.Leu1218Gln) c.3821T>A (p.Leu1274Gln) | |
| 16 | g.89282593G>A | CA497374289 | ANKRD11 | c.3949C>T (p.Leu1317=) c.*3752C>T (n.*3752C>T) c.744+5935C>T (n.744+5935C>T) c.151+5935C>T c.3847C>T (p.Leu1283=) c.3652C>T (p.Leu1218=) c.3820C>T (p.Leu1274=) | gnomAD v4 COSMIC |
| 16 | g.89282593G>C | CA397158645 | ANKRD11 | c.3949C>G (p.Leu1317Val) c.*3752C>G (n.*3752C>G) c.744+5935C>G (n.744+5935C>G) c.151+5935C>G c.3847C>G (p.Leu1283Val) c.3652C>G (p.Leu1218Val) c.3820C>G (p.Leu1274Val) | |
| 16 | g.89282593G>T | CA397158646 | ANKRD11 | c.3949C>A (p.Leu1317Met) c.*3752C>A (n.*3752C>A) c.744+5935C>A (n.744+5935C>A) c.151+5935C>A c.3847C>A (p.Leu1283Met) c.3652C>A (p.Leu1218Met) c.3820C>A (p.Leu1274Met) | |
| 16 | g.89282593_89282594delinsGC | CA2241603293 | ANKRD11 | c.3948_3949delinsGC (p.Gly1316=) c.*3751_*3752delinsGC (n.*3751_*3752delinsGC) c.744+5934_744+5935delinsGC (n.744+5934_744+5935delinsGC) c.151+5934_151+5935delinsGC c.3846_3847delinsGC (p.Gly1282=) c.3651_3652delinsGC (p.Gly1217=) c.3819_3820delinsGC (p.Gly1273=) | |
| 16 | g.89282594C>A | CA497374293 | ANKRD11 | c.3948G>T (p.Gly1316=) c.*3751G>T (n.*3751G>T) c.744+5934G>T (n.744+5934G>T) c.151+5934G>T c.3846G>T (p.Gly1282=) c.3651G>T (p.Gly1217=) c.3819G>T (p.Gly1273=) | |
| 16 | g.89282594C>G | CA497374294 | ANKRD11 | c.3948G>C (p.Gly1316=) c.*3751G>C (n.*3751G>C) c.744+5934G>C (n.744+5934G>C) c.151+5934G>C c.3846G>C (p.Gly1282=) c.3651G>C (p.Gly1217=) c.3819G>C (p.Gly1273=) | |
| 16 | g.89282594C>T | CA497374295 | ANKRD11 | c.3948G>A (p.Gly1316=) c.*3751G>A (n.*3751G>A) c.744+5934G>A (n.744+5934G>A) c.151+5934G>A c.3846G>A (p.Gly1282=) c.3651G>A (p.Gly1217=) c.3819G>A (p.Gly1273=) | |
| 16 | g.89282597del | CA1139664925 | ANKRD11 | c.3948del (p.Leu1317Ter) c.*3751del (n.*3751del) c.744+5934del (n.744+5934del) c.151+5934del c.3846del (p.Leu1283Ter) c.3651del (p.Leu1218Ter) c.3819del (p.Leu1274Ter) | ClinVar dbSNP |
| 16 | g.89282595C>A | CA397158647 | ANKRD11 | c.3947G>T (p.Gly1316Val) c.*3750G>T (n.*3750G>T) c.744+5933G>T (n.744+5933G>T) c.151+5933G>T c.3845G>T (p.Gly1282Val) c.3650G>T (p.Gly1217Val) c.3818G>T (p.Gly1273Val) | |
| 16 | g.89282595C= | CA2241603298 | ANKRD11 | c.3947G= (p.Gly1316=) c.*3750G= (n.*3750G=) c.744+5933G= (n.744+5933G=) c.151+5933G= c.3845G= (p.Gly1282=) c.3650G= (p.Gly1217=) c.3818G= (p.Gly1273=) | |
| 16 | g.89282595C>G | CA397158648 | ANKRD11 | c.3947G>C (p.Gly1316Ala) c.*3750G>C (n.*3750G>C) c.744+5933G>C (n.744+5933G>C) c.151+5933G>C c.3845G>C (p.Gly1282Ala) c.3650G>C (p.Gly1217Ala) c.3818G>C (p.Gly1273Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89282595C>T | CA397158649 | ANKRD11 | c.3947G>A (p.Gly1316Glu) c.*3750G>A (n.*3750G>A) c.744+5933G>A (n.744+5933G>A) c.151+5933G>A c.3845G>A (p.Gly1282Glu) c.3650G>A (p.Gly1217Glu) c.3818G>A (p.Gly1273Glu) | gnomAD v4 |
| 16 | g.89282596C>A | CA397158650 | ANKRD11 | c.3946G>T (p.Gly1316Trp) c.*3749G>T (n.*3749G>T) c.744+5932G>T (n.744+5932G>T) c.151+5932G>T c.3844G>T (p.Gly1282Trp) c.3649G>T (p.Gly1217Trp) c.3817G>T (p.Gly1273Trp) | |
| 16 | g.89282596C>G | CA397158651 | ANKRD11 | c.3946G>C (p.Gly1316Arg) c.*3749G>C (n.*3749G>C) c.744+5932G>C (n.744+5932G>C) c.151+5932G>C c.3844G>C (p.Gly1282Arg) c.3649G>C (p.Gly1217Arg) c.3817G>C (p.Gly1273Arg) | |
| 16 | g.89282596C>T | CA397158652 | ANKRD11 | c.3946G>A (p.Gly1316Arg) c.*3749G>A (n.*3749G>A) c.744+5932G>A (n.744+5932G>A) c.151+5932G>A c.3844G>A (p.Gly1282Arg) c.3649G>A (p.Gly1217Arg) c.3817G>A (p.Gly1273Arg) | gnomAD v4 COSMIC |
| 16 | g.89282596_89282609delinsCCGGCTCCTGCCCT | CA2241603300 | ANKRD11 | c.3933_3946delinsAGGGCAGGAGCCGG (p.Arg1311=) c.*3736_*3749delinsAGGGCAGGAGCCGG (n.*3736_*3749delinsAGGGCAGGAGCCGG) c.744+5919_744+5932delinsAGGGCAGGAGCCGG (n.744+5919_744+5932delinsAGGGCAGGAGCCGG) c.151+5919_151+5932delinsAGGGCAGGAGCCGG c.3831_3844delinsAGGGCAGGAGCCGG (p.Arg1277=) c.3636_3649delinsAGGGCAGGAGCCGG (p.Arg1212=) c.3804_3817delinsAGGGCAGGAGCCGG (p.Arg1268=) | |
| 16 | g.89282597C>A | CA497374298 | ANKRD11 | c.3945G>T (p.Pro1315=) c.*3748G>T (n.*3748G>T) c.744+5931G>T (n.744+5931G>T) c.151+5931G>T c.3843G>T (p.Pro1281=) c.3648G>T (p.Pro1216=) c.3816G>T (p.Pro1272=) | gnomAD v4 |
| 16 | g.89282597C= | CA2241603303 | ANKRD11 | c.3945G= (p.Pro1315=) c.*3748G= (n.*3748G=) c.744+5931G= (n.744+5931G=) c.151+5931G= c.3843G= (p.Pro1281=) c.3648G= (p.Pro1216=) c.3816G= (p.Pro1272=) | |
| 16 | g.89282597C>G | CA8242247 | ANKRD11 | c.3945G>C (p.Pro1315=) c.*3748G>C (n.*3748G>C) c.744+5931G>C (n.744+5931G>C) c.151+5931G>C c.3843G>C (p.Pro1281=) c.3648G>C (p.Pro1216=) c.3816G>C (p.Pro1272=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 16 | g.89282597C>T | CA8242248 | ANKRD11 | c.3945G>A (p.Pro1315=) c.*3748G>A (n.*3748G>A) c.744+5931G>A (n.744+5931G>A) c.151+5931G>A c.3843G>A (p.Pro1281=) c.3648G>A (p.Pro1216=) c.3816G>A (p.Pro1272=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89282600_89282612del | CA916083511 | ANKRD11 | c.3933_3945del (p.Gln1313Ter) c.*3736_*3748del (n.*3736_*3748del) c.744+5919_744+5931del (n.744+5919_744+5931del) c.151+5919_151+5931del c.3831_3843del (p.Gln1279Ter) c.3636_3648del (p.Gln1214Ter) c.3804_3816del (p.Gln1270Ter) | ClinVar dbSNP |
| 16 | g.89282598G>A | CA8242249 | ANKRD11 | c.3944C>T (p.Pro1315Leu) c.*3747C>T (n.*3747C>T) c.744+5930C>T (n.744+5930C>T) c.151+5930C>T c.3842C>T (p.Pro1281Leu) c.3647C>T (p.Pro1216Leu) c.3815C>T (p.Pro1272Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.89282598G>C | CA8242250 | ANKRD11 | c.3944C>G (p.Pro1315Arg) c.*3747C>G (n.*3747C>G) c.744+5930C>G (n.744+5930C>G) c.151+5930C>G c.3842C>G (p.Pro1281Arg) c.3647C>G (p.Pro1216Arg) c.3815C>G (p.Pro1272Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89282598G= | CA2241603306 | ANKRD11 | c.3944C= (p.Pro1315=) c.*3747C= (n.*3747C=) c.744+5930C= (n.744+5930C=) c.151+5930C= c.3842C= (p.Pro1281=) c.3647C= (p.Pro1216=) c.3815C= (p.Pro1272=) | |
| 16 | g.89282598G>T | CA397158653 | ANKRD11 | c.3944C>A (p.Pro1315Gln) c.*3747C>A (n.*3747C>A) c.744+5930C>A (n.744+5930C>A) c.151+5930C>A c.3842C>A (p.Pro1281Gln) c.3647C>A (p.Pro1216Gln) c.3815C>A (p.Pro1272Gln) | |
| 16 | g.89282599G>A | CA8242251 | ANKRD11 | c.3943C>T (p.Pro1315Ser) c.*3746C>T (n.*3746C>T) c.744+5929C>T (n.744+5929C>T) c.151+5929C>T c.3841C>T (p.Pro1281Ser) c.3646C>T (p.Pro1216Ser) c.3814C>T (p.Pro1272Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89282599G>C | CA397158654 | ANKRD11 | c.3943C>G (p.Pro1315Ala) c.*3746C>G (n.*3746C>G) c.744+5929C>G (n.744+5929C>G) c.151+5929C>G c.3841C>G (p.Pro1281Ala) c.3646C>G (p.Pro1216Ala) c.3814C>G (p.Pro1272Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89282599G= | CA2241603309 | ANKRD11 | c.3943C= (p.Pro1315=) c.*3746C= (n.*3746C=) c.744+5929C= (n.744+5929C=) c.151+5929C= c.3841C= (p.Pro1281=) c.3646C= (p.Pro1216=) c.3814C= (p.Pro1272=) | |
| 16 | g.89282599G>T | CA397158655 | ANKRD11 | c.3943C>A (p.Pro1315Thr) c.*3746C>A (n.*3746C>A) c.744+5929C>A (n.744+5929C>A) c.151+5929C>A c.3841C>A (p.Pro1281Thr) c.3646C>A (p.Pro1216Thr) c.3814C>A (p.Pro1272Thr) | |
| 16 | g.89282600C>A | CA8242253 | ANKRD11 | c.3942G>T (p.Glu1314Asp) c.*3745G>T (n.*3745G>T) c.744+5928G>T (n.744+5928G>T) c.151+5928G>T c.3840G>T (p.Glu1280Asp) c.3645G>T (p.Glu1215Asp) c.3813G>T (p.Glu1271Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89282600C= | CA2241603312 | ANKRD11 | c.3942G= (p.Glu1314=) c.*3745G= (n.*3745G=) c.744+5928G= (n.744+5928G=) c.151+5928G= c.3840G= (p.Glu1280=) c.3645G= (p.Glu1215=) c.3813G= (p.Glu1271=) | |
| 16 | g.89282600C>G | CA8242252 | ANKRD11 | c.3942G>C (p.Glu1314Asp) c.*3745G>C (n.*3745G>C) c.744+5928G>C (n.744+5928G>C) c.151+5928G>C c.3840G>C (p.Glu1280Asp) c.3645G>C (p.Glu1215Asp) c.3813G>C (p.Glu1271Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89282600C>T | CA497374304 | ANKRD11 | c.3942G>A (p.Glu1314=) c.*3745G>A (n.*3745G>A) c.744+5928G>A (n.744+5928G>A) c.151+5928G>A c.3840G>A (p.Glu1280=) c.3645G>A (p.Glu1215=) c.3813G>A (p.Glu1271=) | gnomAD v4 |
| 16 | g.89282601T>A | CA397158656 | ANKRD11 | c.3941A>T (p.Glu1314Val) c.*3744A>T (n.*3744A>T) c.744+5927A>T (n.744+5927A>T) c.151+5927A>T c.3839A>T (p.Glu1280Val) c.3644A>T (p.Glu1215Val) c.3812A>T (p.Glu1271Val) | |
| 16 | g.89282601T>C | CA397158657 | ANKRD11 | c.3941A>G (p.Glu1314Gly) c.*3744A>G (n.*3744A>G) c.744+5927A>G (n.744+5927A>G) c.151+5927A>G c.3839A>G (p.Glu1280Gly) c.3644A>G (p.Glu1215Gly) c.3812A>G (p.Glu1271Gly) | |
| 16 | g.89282601T>G | CA397158658 | ANKRD11 | c.3941A>C (p.Glu1314Ala) c.*3744A>C (n.*3744A>C) c.744+5927A>C (n.744+5927A>C) c.151+5927A>C c.3839A>C (p.Glu1280Ala) c.3644A>C (p.Glu1215Ala) c.3812A>C (p.Glu1271Ala) | |
| 16 | g.89282602C>A | CA397158659 | ANKRD11 | c.3940G>T (p.Glu1314Ter) c.*3743G>T (n.*3743G>T) c.744+5926G>T (n.744+5926G>T) c.151+5926G>T c.3838G>T (p.Glu1280Ter) c.3643G>T (p.Glu1215Ter) c.3811G>T (p.Glu1271Ter) | |
| 16 | g.89282602C= | CA2241603315 | ANKRD11 | c.3940G= (p.Glu1314=) c.*3743G= (n.*3743G=) c.744+5926G= (n.744+5926G=) c.151+5926G= c.3838G= (p.Glu1280=) c.3643G= (p.Glu1215=) c.3811G= (p.Glu1271=) | |
| 16 | g.89282602C>G | CA286516747 | ANKRD11 | c.3940G>C (p.Glu1314Gln) c.*3743G>C (n.*3743G>C) c.744+5926G>C (n.744+5926G>C) c.151+5926G>C c.3838G>C (p.Glu1280Gln) c.3643G>C (p.Glu1215Gln) c.3811G>C (p.Glu1271Gln) | dbSNP |
| 16 | g.89282602C>T | CA397158660 | ANKRD11 | c.3940G>A (p.Glu1314Lys) c.*3743G>A (n.*3743G>A) c.744+5926G>A (n.744+5926G>A) c.151+5926G>A c.3838G>A (p.Glu1280Lys) c.3643G>A (p.Glu1215Lys) c.3811G>A (p.Glu1271Lys) | COSMIC |
| 16 | g.89282603C>A | CA397158661 | ANKRD11 | c.3939G>T (p.Gln1313His) c.*3742G>T (n.*3742G>T) c.744+5925G>T (n.744+5925G>T) c.151+5925G>T c.3837G>T (p.Gln1279His) c.3642G>T (p.Gln1214His) c.3810G>T (p.Gln1270His) | |
| 16 | g.89282603C>G | CA397158662 | ANKRD11 | c.3939G>C (p.Gln1313His) c.*3742G>C (n.*3742G>C) c.744+5925G>C (n.744+5925G>C) c.151+5925G>C c.3837G>C (p.Gln1279His) c.3642G>C (p.Gln1214His) c.3810G>C (p.Gln1270His) | |
| 16 | g.89282603C>T | CA497374308 | ANKRD11 | c.3939G>A (p.Gln1313=) c.*3742G>A (n.*3742G>A) c.744+5925G>A (n.744+5925G>A) c.151+5925G>A c.3837G>A (p.Gln1279=) c.3642G>A (p.Gln1214=) c.3810G>A (p.Gln1270=) | |
| 16 | g.89282604T>A | CA397158663 | ANKRD11 | c.3938A>T (p.Gln1313Leu) c.*3741A>T (n.*3741A>T) c.744+5924A>T (n.744+5924A>T) c.151+5924A>T c.3836A>T (p.Gln1279Leu) c.3641A>T (p.Gln1214Leu) c.3809A>T (p.Gln1270Leu) | |
| 16 | g.89282604T>C | CA397158664 | ANKRD11 | c.3938A>G (p.Gln1313Arg) c.*3741A>G (n.*3741A>G) c.744+5924A>G (n.744+5924A>G) c.151+5924A>G c.3836A>G (p.Gln1279Arg) c.3641A>G (p.Gln1214Arg) c.3809A>G (p.Gln1270Arg) | |
| 16 | g.89282604T>G | CA397158665 | ANKRD11 | c.3938A>C (p.Gln1313Pro) c.*3741A>C (n.*3741A>C) c.744+5924A>C (n.744+5924A>C) c.151+5924A>C c.3836A>C (p.Gln1279Pro) c.3641A>C (p.Gln1214Pro) c.3809A>C (p.Gln1270Pro) | |
| 16 | g.89282605G>A | CA397158667 | ANKRD11 | c.3937C>T (p.Gln1313Ter) c.*3740C>T (n.*3740C>T) c.744+5923C>T (n.744+5923C>T) c.151+5923C>T c.3835C>T (p.Gln1279Ter) c.3640C>T (p.Gln1214Ter) c.3808C>T (p.Gln1270Ter) | |
| 16 | g.89282605G>C | CA397158668 | ANKRD11 | c.3937C>G (p.Gln1313Glu) c.*3740C>G (n.*3740C>G) c.744+5923C>G (n.744+5923C>G) c.151+5923C>G c.3835C>G (p.Gln1279Glu) c.3640C>G (p.Gln1214Glu) c.3808C>G (p.Gln1270Glu) | |
| 16 | g.89282605G>T | CA397158666 | ANKRD11 | c.3937C>A (p.Gln1313Lys) c.*3740C>A (n.*3740C>A) c.744+5923C>A (n.744+5923C>A) c.151+5923C>A c.3835C>A (p.Gln1279Lys) c.3640C>A (p.Gln1214Lys) c.3808C>A (p.Gln1270Lys) | |
| 16 | g.89282606C>A | CA497374316 | ANKRD11 | c.3936G>T (p.Gly1312=) c.*3739G>T (n.*3739G>T) c.744+5922G>T (n.744+5922G>T) c.151+5922G>T c.3834G>T (p.Gly1278=) c.3639G>T (p.Gly1213=) c.3807G>T (p.Gly1269=) | ClinVar dbSNP |
| 16 | g.89282606C>G | CA497374319 | ANKRD11 | c.3936G>C (p.Gly1312=) c.*3739G>C (n.*3739G>C) c.744+5922G>C (n.744+5922G>C) c.151+5922G>C c.3834G>C (p.Gly1278=) c.3639G>C (p.Gly1213=) c.3807G>C (p.Gly1269=) | |
| 16 | g.89282606C>T | CA497374318 | ANKRD11 | c.3936G>A (p.Gly1312=) c.*3739G>A (n.*3739G>A) c.744+5922G>A (n.744+5922G>A) c.151+5922G>A c.3834G>A (p.Gly1278=) c.3639G>A (p.Gly1213=) c.3807G>A (p.Gly1269=) | ClinVar gnomAD v4 |
| 16 | g.89282608dup | CA2580092272 | ANKRD11 | c.3936dup (p.Gln1313AlafsTer30) c.*3739dup (n.*3739dup) c.744+5922dup (n.744+5922dup) c.151+5922dup c.3834dup (p.Gln1279AlafsTer30) c.3639dup (p.Gln1214AlafsTer30) c.3807dup (p.Gln1270AlafsTer30) | ClinVar |
| 16 | g.89282607C>A | CA397158669 | ANKRD11 | c.3935G>T (p.Gly1312Val) c.*3738G>T (n.*3738G>T) c.744+5921G>T (n.744+5921G>T) c.151+5921G>T c.3833G>T (p.Gly1278Val) c.3638G>T (p.Gly1213Val) c.3806G>T (p.Gly1269Val) | |
| 16 | g.89282607C= | CA2241603317 | ANKRD11 | c.3935G= (p.Gly1312=) c.*3738G= (n.*3738G=) c.744+5921G= (n.744+5921G=) c.151+5921G= c.3833G= (p.Gly1278=) c.3638G= (p.Gly1213=) c.3806G= (p.Gly1269=) | |
| 16 | g.89282607C>G | CA397158671 | ANKRD11 | c.3935G>C (p.Gly1312Ala) c.*3738G>C (n.*3738G>C) c.744+5921G>C (n.744+5921G>C) c.151+5921G>C c.3833G>C (p.Gly1278Ala) c.3638G>C (p.Gly1213Ala) c.3806G>C (p.Gly1269Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89282607C>T | CA397158670 | ANKRD11 | c.3935G>A (p.Gly1312Glu) c.*3738G>A (n.*3738G>A) c.744+5921G>A (n.744+5921G>A) c.151+5921G>A c.3833G>A (p.Gly1278Glu) c.3638G>A (p.Gly1213Glu) c.3806G>A (p.Gly1269Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89282608C>A | CA397158672 | ANKRD11 | c.3934G>T (p.Gly1312Trp) c.*3737G>T (n.*3737G>T) c.744+5920G>T (n.744+5920G>T) c.151+5920G>T c.3832G>T (p.Gly1278Trp) c.3637G>T (p.Gly1213Trp) c.3805G>T (p.Gly1269Trp) | |
| 16 | g.89282608C>G | CA397158674 | ANKRD11 | c.3934G>C (p.Gly1312Arg) c.*3737G>C (n.*3737G>C) c.744+5920G>C (n.744+5920G>C) c.151+5920G>C c.3832G>C (p.Gly1278Arg) c.3637G>C (p.Gly1213Arg) c.3805G>C (p.Gly1269Arg) | |
| 16 | g.89282608C>T | CA397158673 | ANKRD11 | c.3934G>A (p.Gly1312Arg) c.*3737G>A (n.*3737G>A) c.744+5920G>A (n.744+5920G>A) c.151+5920G>A c.3832G>A (p.Gly1278Arg) c.3637G>A (p.Gly1213Arg) c.3805G>A (p.Gly1269Arg) | |
| 16 | g.89282609T>A | CA497374322 | ANKRD11 | c.3933A>T (p.Arg1311=) c.*3736A>T (n.*3736A>T) c.744+5919A>T (n.744+5919A>T) c.151+5919A>T c.3831A>T (p.Arg1277=) c.3636A>T (p.Arg1212=) c.3804A>T (p.Arg1268=) | COSMIC |
| 16 | g.89282609T>C | CA497374323 | ANKRD11 | c.3933A>G (p.Arg1311=) c.*3736A>G (n.*3736A>G) c.744+5919A>G (n.744+5919A>G) c.151+5919A>G c.3831A>G (p.Arg1277=) c.3636A>G (p.Arg1212=) c.3804A>G (p.Arg1268=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89282609T>G | CA497374324 | ANKRD11 | c.3933A>C (p.Arg1311=) c.*3736A>C (n.*3736A>C) c.744+5919A>C (n.744+5919A>C) c.151+5919A>C c.3831A>C (p.Arg1277=) c.3636A>C (p.Arg1212=) c.3804A>C (p.Arg1268=) | |
| 16 | g.89282609T= | CA2241603318 | ANKRD11 | c.3933A= (p.Arg1311=) c.*3736A= (n.*3736A=) c.744+5919A= (n.744+5919A=) c.151+5919A= c.3831A= (p.Arg1277=) c.3636A= (p.Arg1212=) c.3804A= (p.Arg1268=) | |
| 16 | g.89282610C>A | CA397158675 | ANKRD11 | c.3932G>T (p.Arg1311Leu) c.*3735G>T (n.*3735G>T) c.744+5918G>T (n.744+5918G>T) c.151+5918G>T c.3830G>T (p.Arg1277Leu) c.3635G>T (p.Arg1212Leu) c.3803G>T (p.Arg1268Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89282610C= | CA2241603320 | ANKRD11 | c.3932G= (p.Arg1311=) c.*3735G= (n.*3735G=) c.744+5918G= (n.744+5918G=) c.151+5918G= c.3830G= (p.Arg1277=) c.3635G= (p.Arg1212=) c.3803G= (p.Arg1268=) | |
| 16 | g.89282610C>G | CA397158676 | ANKRD11 | c.3932G>C (p.Arg1311Pro) c.*3735G>C (n.*3735G>C) c.744+5918G>C (n.744+5918G>C) c.151+5918G>C c.3830G>C (p.Arg1277Pro) c.3635G>C (p.Arg1212Pro) c.3803G>C (p.Arg1268Pro) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.89282610C>T | CA8242254 | ANKRD11 | c.3932G>A (p.Arg1311Gln) c.*3735G>A (n.*3735G>A) c.744+5918G>A (n.744+5918G>A) c.151+5918G>A c.3830G>A (p.Arg1277Gln) c.3635G>A (p.Arg1212Gln) c.3803G>A (p.Arg1268Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89282611G>A | CA397158677 | ANKRD11 | c.3931C>T (p.Arg1311Ter) c.*3734C>T (n.*3734C>T) c.744+5917C>T (n.744+5917C>T) c.151+5917C>T c.3829C>T (p.Arg1277Ter) c.3634C>T (p.Arg1212Ter) c.3802C>T (p.Arg1268Ter) | ClinVar dbSNP COSMIC |
| 16 | g.89282611G>C | CA397158678 | ANKRD11 | c.3931C>G (p.Arg1311Gly) c.*3734C>G (n.*3734C>G) c.744+5917C>G (n.744+5917C>G) c.151+5917C>G c.3829C>G (p.Arg1277Gly) c.3634C>G (p.Arg1212Gly) c.3802C>G (p.Arg1268Gly) | |
| 16 | g.89282611G= | CA2241603324 | ANKRD11 | c.3931C= (p.Arg1311=) c.*3734C= (n.*3734C=) c.744+5917C= (n.744+5917C=) c.151+5917C= c.3829C= (p.Arg1277=) c.3634C= (p.Arg1212=) c.3802C= (p.Arg1268=) | |
| 16 | g.89282611G>T | CA497374329 | ANKRD11 | c.3931C>A (p.Arg1311=) c.*3734C>A (n.*3734C>A) c.744+5917C>A (n.744+5917C>A) c.151+5917C>A c.3829C>A (p.Arg1277=) c.3634C>A (p.Arg1212=) c.3802C>A (p.Arg1268=) | dbSNP |
| 16 | g.89282612G>A | CA497374331 | ANKRD11 | c.3930C>T (p.Asp1310=) c.*3733C>T (n.*3733C>T) c.744+5916C>T (n.744+5916C>T) c.151+5916C>T c.3828C>T (p.Asp1276=) c.3633C>T (p.Asp1211=) c.3801C>T (p.Asp1267=) | gnomAD v4 |
| 16 | g.89282612G>C | CA8242255 | ANKRD11 | c.3930C>G (p.Asp1310Glu) c.*3733C>G (n.*3733C>G) c.744+5916C>G (n.744+5916C>G) c.151+5916C>G c.3828C>G (p.Asp1276Glu) c.3633C>G (p.Asp1211Glu) c.3801C>G (p.Asp1267Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89282612G= | CA2241603327 | ANKRD11 | c.3930C= (p.Asp1310=) c.*3733C= (n.*3733C=) c.744+5916C= (n.744+5916C=) c.151+5916C= c.3828C= (p.Asp1276=) c.3633C= (p.Asp1211=) c.3801C= (p.Asp1267=) | |
| 16 | g.89282612G>T | CA397158679 | ANKRD11 | c.3930C>A (p.Asp1310Glu) c.*3733C>A (n.*3733C>A) c.744+5916C>A (n.744+5916C>A) c.151+5916C>A c.3828C>A (p.Asp1276Glu) c.3633C>A (p.Asp1211Glu) c.3801C>A (p.Asp1267Glu) | |
| 16 | g.89282613T>A | CA397158680 | ANKRD11 | c.3929A>T (p.Asp1310Val) c.*3732A>T (n.*3732A>T) c.744+5915A>T (n.744+5915A>T) c.151+5915A>T c.3827A>T (p.Asp1276Val) c.3632A>T (p.Asp1211Val) c.3800A>T (p.Asp1267Val) | gnomAD v4 |
| 16 | g.89282613T>C | CA397158681 | ANKRD11 | c.3929A>G (p.Asp1310Gly) c.*3732A>G (n.*3732A>G) c.744+5915A>G (n.744+5915A>G) c.151+5915A>G c.3827A>G (p.Asp1276Gly) c.3632A>G (p.Asp1211Gly) c.3800A>G (p.Asp1267Gly) | |
| 16 | g.89282613T>G | CA397158682 | ANKRD11 | c.3929A>C (p.Asp1310Ala) c.*3732A>C (n.*3732A>C) c.744+5915A>C (n.744+5915A>C) c.151+5915A>C c.3827A>C (p.Asp1276Ala) c.3632A>C (p.Asp1211Ala) c.3800A>C (p.Asp1267Ala) | |
| 16 | g.89282614C>A | CA397158683 | ANKRD11 | c.3928G>T (p.Asp1310Tyr) c.*3731G>T (n.*3731G>T) c.744+5914G>T (n.744+5914G>T) c.151+5914G>T c.3826G>T (p.Asp1276Tyr) c.3631G>T (p.Asp1211Tyr) c.3799G>T (p.Asp1267Tyr) | |
| 16 | g.89282614C>G | CA397158684 | ANKRD11 | c.3928G>C (p.Asp1310His) c.*3731G>C (n.*3731G>C) c.744+5914G>C (n.744+5914G>C) c.151+5914G>C c.3826G>C (p.Asp1276His) c.3631G>C (p.Asp1211His) c.3799G>C (p.Asp1267His) | |
| 16 | g.89282614C>T | CA397158685 | ANKRD11 | c.3928G>A (p.Asp1310Asn) c.*3731G>A (n.*3731G>A) c.744+5914G>A (n.744+5914G>A) c.151+5914G>A c.3826G>A (p.Asp1276Asn) c.3631G>A (p.Asp1211Asn) c.3799G>A (p.Asp1267Asn) | |
| 16 | g.89282615C>A | CA497374337 | ANKRD11 | c.3927G>T (p.Thr1309=) c.*3730G>T (n.*3730G>T) c.744+5913G>T (n.744+5913G>T) c.151+5913G>T c.3825G>T (p.Thr1275=) c.3630G>T (p.Thr1210=) c.3798G>T (p.Thr1266=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89282615C= | CA2241603331 | ANKRD11 | c.3927G= (p.Thr1309=) c.*3730G= (n.*3730G=) c.744+5913G= (n.744+5913G=) c.151+5913G= c.3825G= (p.Thr1275=) c.3630G= (p.Thr1210=) c.3798G= (p.Thr1266=) | |
| 16 | g.89282615C>G | CA8242257 | ANKRD11 | c.3927G>C (p.Thr1309=) c.*3730G>C (n.*3730G>C) c.744+5913G>C (n.744+5913G>C) c.151+5913G>C c.3825G>C (p.Thr1275=) c.3630G>C (p.Thr1210=) c.3798G>C (p.Thr1266=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89282615C>T | CA8242256 | ANKRD11 | c.3927G>A (p.Thr1309=) c.*3730G>A (n.*3730G>A) c.744+5913G>A (n.744+5913G>A) c.151+5913G>A c.3825G>A (p.Thr1275=) c.3630G>A (p.Thr1210=) c.3798G>A (p.Thr1266=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.89282616G>A | CA8242258 | ANKRD11 | c.3926C>T (p.Thr1309Met) c.*3729C>T (n.*3729C>T) c.744+5912C>T (n.744+5912C>T) c.151+5912C>T c.3824C>T (p.Thr1275Met) c.3629C>T (p.Thr1210Met) c.3797C>T (p.Thr1266Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89282616G>C | CA397158687 | ANKRD11 | c.3926C>G (p.Thr1309Arg) c.*3729C>G (n.*3729C>G) c.744+5912C>G (n.744+5912C>G) c.151+5912C>G c.3824C>G (p.Thr1275Arg) c.3629C>G (p.Thr1210Arg) c.3797C>G (p.Thr1266Arg) | dbSNP gnomAD v4 |
| 16 | g.89282616G= | CA2241603333 | ANKRD11 | c.3926C= (p.Thr1309=) c.*3729C= (n.*3729C=) c.744+5912C= (n.744+5912C=) c.151+5912C= c.3824C= (p.Thr1275=) c.3629C= (p.Thr1210=) c.3797C= (p.Thr1266=) | |
| 16 | g.89282616G>T | CA397158686 | ANKRD11 | c.3926C>A (p.Thr1309Lys) c.*3729C>A (n.*3729C>A) c.744+5912C>A (n.744+5912C>A) c.151+5912C>A c.3824C>A (p.Thr1275Lys) c.3629C>A (p.Thr1210Lys) c.3797C>A (p.Thr1266Lys) | |
| 16 | g.89282617T>A | CA397158688 | ANKRD11 | c.3925A>T (p.Thr1309Ser) c.*3728A>T (n.*3728A>T) c.744+5911A>T (n.744+5911A>T) c.151+5911A>T c.3823A>T (p.Thr1275Ser) c.3628A>T (p.Thr1210Ser) c.3796A>T (p.Thr1266Ser) | |
| 16 | g.89282617T>C | CA397158689 | ANKRD11 | c.3925A>G (p.Thr1309Ala) c.*3728A>G (n.*3728A>G) c.744+5911A>G (n.744+5911A>G) c.151+5911A>G c.3823A>G (p.Thr1275Ala) c.3628A>G (p.Thr1210Ala) c.3796A>G (p.Thr1266Ala) | gnomAD v4 |
| 16 | g.89282617T>G | CA286516776 | ANKRD11 | c.3925A>C (p.Thr1309Pro) c.*3728A>C (n.*3728A>C) c.744+5911A>C (n.744+5911A>C) c.151+5911A>C c.3823A>C (p.Thr1275Pro) c.3628A>C (p.Thr1210Pro) c.3796A>C (p.Thr1266Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89282617T= | CA2241603335 | ANKRD11 | c.3925A= (p.Thr1309=) c.*3728A= (n.*3728A=) c.744+5911A= (n.744+5911A=) c.151+5911A= c.3823A= (p.Thr1275=) c.3628A= (p.Thr1210=) c.3796A= (p.Thr1266=) | |
| 16 | g.89282618G>A | CA497374340 | ANKRD11 | c.3924C>T (p.Phe1308=) c.*3727C>T (n.*3727C>T) c.744+5910C>T (n.744+5910C>T) c.151+5910C>T c.3822C>T (p.Phe1274=) c.3627C>T (p.Phe1209=) c.3795C>T (p.Phe1265=) | |
| 16 | g.89282618G>C | CA397158690 | ANKRD11 | c.3924C>G (p.Phe1308Leu) c.*3727C>G (n.*3727C>G) c.744+5910C>G (n.744+5910C>G) c.151+5910C>G c.3822C>G (p.Phe1274Leu) c.3627C>G (p.Phe1209Leu) c.3795C>G (p.Phe1265Leu) | |
| 16 | g.89282618G>T | CA397158691 | ANKRD11 | c.3924C>A (p.Phe1308Leu) c.*3727C>A (n.*3727C>A) c.744+5910C>A (n.744+5910C>A) c.151+5910C>A c.3822C>A (p.Phe1274Leu) c.3627C>A (p.Phe1209Leu) c.3795C>A (p.Phe1265Leu) | |
| 16 | g.89282619A>C | CA397158692 | ANKRD11 | c.3923T>G (p.Phe1308Cys) c.*3726T>G (n.*3726T>G) c.744+5909T>G (n.744+5909T>G) c.151+5909T>G c.3821T>G (p.Phe1274Cys) c.3626T>G (p.Phe1209Cys) c.3794T>G (p.Phe1265Cys) | |
| 16 | g.89282619A>G | CA397158693 | ANKRD11 | c.3923T>C (p.Phe1308Ser) c.*3726T>C (n.*3726T>C) c.744+5909T>C (n.744+5909T>C) c.151+5909T>C c.3821T>C (p.Phe1274Ser) c.3626T>C (p.Phe1209Ser) c.3794T>C (p.Phe1265Ser) | |
| 16 | g.89282619A>T | CA397158694 | ANKRD11 | c.3923T>A (p.Phe1308Tyr) c.*3726T>A (n.*3726T>A) c.744+5909T>A (n.744+5909T>A) c.151+5909T>A c.3821T>A (p.Phe1274Tyr) c.3626T>A (p.Phe1209Tyr) c.3794T>A (p.Phe1265Tyr) | |
| 16 | g.89282619_89282620delinsTG | CA2580613977 | ANKRD11 | c.3922_3923delinsCA (p.Phe1308His) c.*3725_*3726delinsCA (n.*3725_*3726delinsCA) c.744+5908_744+5909delinsCA (n.744+5908_744+5909delinsCA) c.151+5908_151+5909delinsCA c.3820_3821delinsCA (p.Phe1274His) c.3625_3626delinsCA (p.Phe1209His) c.3793_3794delinsCA (p.Phe1265His) | ClinVar |
| 16 | g.89282620A>C | CA397158697 | ANKRD11 | c.3922T>G (p.Phe1308Val) c.*3725T>G (n.*3725T>G) c.744+5908T>G (n.744+5908T>G) c.151+5908T>G c.3820T>G (p.Phe1274Val) c.3625T>G (p.Phe1209Val) c.3793T>G (p.Phe1265Val) | gnomAD v4 |
| 16 | g.89282620A>G | CA397158696 | ANKRD11 | c.3922T>C (p.Phe1308Leu) c.*3725T>C (n.*3725T>C) c.744+5908T>C (n.744+5908T>C) c.151+5908T>C c.3820T>C (p.Phe1274Leu) c.3625T>C (p.Phe1209Leu) c.3793T>C (p.Phe1265Leu) | |
| 16 | g.89282620A>T | CA397158695 | ANKRD11 | c.3922T>A (p.Phe1308Ile) c.*3725T>A (n.*3725T>A) c.744+5908T>A (n.744+5908T>A) c.151+5908T>A c.3820T>A (p.Phe1274Ile) c.3625T>A (p.Phe1209Ile) c.3793T>A (p.Phe1265Ile) | |
| 16 | g.89282621G>A | CA497374349 | ANKRD11 | c.3921C>T (p.Ser1307=) c.*3724C>T (n.*3724C>T) c.744+5907C>T (n.744+5907C>T) c.151+5907C>T c.3819C>T (p.Ser1273=) c.3624C>T (p.Ser1208=) c.3792C>T (p.Ser1264=) | COSMIC |
| 16 | g.89282621G>C | CA397158698 | ANKRD11 | c.3921C>G (p.Ser1307Arg) c.*3724C>G (n.*3724C>G) c.744+5907C>G (n.744+5907C>G) c.151+5907C>G c.3819C>G (p.Ser1273Arg) c.3624C>G (p.Ser1208Arg) c.3792C>G (p.Ser1264Arg) | |
| 16 | g.89282621G>T | CA397158699 | ANKRD11 | c.3921C>A (p.Ser1307Arg) c.*3724C>A (n.*3724C>A) c.744+5907C>A (n.744+5907C>A) c.151+5907C>A c.3819C>A (p.Ser1273Arg) c.3624C>A (p.Ser1208Arg) c.3792C>A (p.Ser1264Arg) | |
| 16 | g.89282622C>A | CA397158700 | ANKRD11 | c.3920G>T (p.Ser1307Ile) c.*3723G>T (n.*3723G>T) c.744+5906G>T (n.744+5906G>T) c.151+5906G>T c.3818G>T (p.Ser1273Ile) c.3623G>T (p.Ser1208Ile) c.3791G>T (p.Ser1264Ile) | |
| 16 | g.89282622C>G | CA397158701 | ANKRD11 | c.3920G>C (p.Ser1307Thr) c.*3723G>C (n.*3723G>C) c.744+5906G>C (n.744+5906G>C) c.151+5906G>C c.3818G>C (p.Ser1273Thr) c.3623G>C (p.Ser1208Thr) c.3791G>C (p.Ser1264Thr) | |
| 16 | g.89282622C>T | CA397158702 | ANKRD11 | c.3920G>A (p.Ser1307Asn) c.*3723G>A (n.*3723G>A) c.744+5906G>A (n.744+5906G>A) c.151+5906G>A c.3818G>A (p.Ser1273Asn) c.3623G>A (p.Ser1208Asn) c.3791G>A (p.Ser1264Asn) | |
| 16 | g.89282623T>A | CA397158703 | ANKRD11 | c.3919A>T (p.Ser1307Cys) c.*3722A>T (n.*3722A>T) c.744+5905A>T (n.744+5905A>T) c.151+5905A>T c.3817A>T (p.Ser1273Cys) c.3622A>T (p.Ser1208Cys) c.3790A>T (p.Ser1264Cys) | |
| 16 | g.89282623T>C | CA397158704 | ANKRD11 | c.3919A>G (p.Ser1307Gly) c.*3722A>G (n.*3722A>G) c.744+5905A>G (n.744+5905A>G) c.151+5905A>G c.3817A>G (p.Ser1273Gly) c.3622A>G (p.Ser1208Gly) c.3790A>G (p.Ser1264Gly) | |
| 16 | g.89282623T>G | CA397158705 | ANKRD11 | c.3919A>C (p.Ser1307Arg) c.*3722A>C (n.*3722A>C) c.744+5905A>C (n.744+5905A>C) c.151+5905A>C c.3817A>C (p.Ser1273Arg) c.3622A>C (p.Ser1208Arg) c.3790A>C (p.Ser1264Arg) | |
| 16 | g.89282624G>A | CA8242259 | ANKRD11 | c.3918C>T (p.Asp1306=) c.*3721C>T (n.*3721C>T) c.744+5904C>T (n.744+5904C>T) c.151+5904C>T c.3816C>T (p.Asp1272=) c.3621C>T (p.Asp1207=) c.3789C>T (p.Asp1263=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89282624G>C | CA397158706 | ANKRD11 | c.3918C>G (p.Asp1306Glu) c.*3721C>G (n.*3721C>G) c.744+5904C>G (n.744+5904C>G) c.151+5904C>G c.3816C>G (p.Asp1272Glu) c.3621C>G (p.Asp1207Glu) c.3789C>G (p.Asp1263Glu) | COSMIC |
| 16 | g.89282624G= | CA2241603337 | ANKRD11 | c.3918C= (p.Asp1306=) c.*3721C= (n.*3721C=) c.744+5904C= (n.744+5904C=) c.151+5904C= c.3816C= (p.Asp1272=) c.3621C= (p.Asp1207=) c.3789C= (p.Asp1263=) | |
| 16 | g.89282624G>T | CA397158707 | ANKRD11 | c.3918C>A (p.Asp1306Glu) c.*3721C>A (n.*3721C>A) c.744+5904C>A (n.744+5904C>A) c.151+5904C>A c.3816C>A (p.Asp1272Glu) c.3621C>A (p.Asp1207Glu) c.3789C>A (p.Asp1263Glu) | |
| 16 | g.89282625T>A | CA397158710 | ANKRD11 | c.3917A>T (p.Asp1306Val) c.*3720A>T (n.*3720A>T) c.744+5903A>T (n.744+5903A>T) c.151+5903A>T c.3815A>T (p.Asp1272Val) c.3620A>T (p.Asp1207Val) c.3788A>T (p.Asp1263Val) | |
| 16 | g.89282625T>C | CA397158709 | ANKRD11 | c.3917A>G (p.Asp1306Gly) c.*3720A>G (n.*3720A>G) c.744+5903A>G (n.744+5903A>G) c.151+5903A>G c.3815A>G (p.Asp1272Gly) c.3620A>G (p.Asp1207Gly) c.3788A>G (p.Asp1263Gly) | |
| 16 | g.89282625T>G | CA397158708 | ANKRD11 | c.3917A>C (p.Asp1306Ala) c.*3720A>C (n.*3720A>C) c.744+5903A>C (n.744+5903A>C) c.151+5903A>C c.3815A>C (p.Asp1272Ala) c.3620A>C (p.Asp1207Ala) c.3788A>C (p.Asp1263Ala) | |
| 16 | g.89282626C>A | CA397158711 | ANKRD11 | c.3916G>T (p.Asp1306Tyr) c.*3719G>T (n.*3719G>T) c.744+5902G>T (n.744+5902G>T) c.151+5902G>T c.3814G>T (p.Asp1272Tyr) c.3619G>T (p.Asp1207Tyr) c.3787G>T (p.Asp1263Tyr) | |
| 16 | g.89282626C>G | CA397158712 | ANKRD11 | c.3916G>C (p.Asp1306His) c.*3719G>C (n.*3719G>C) c.744+5902G>C (n.744+5902G>C) c.151+5902G>C c.3814G>C (p.Asp1272His) c.3619G>C (p.Asp1207His) c.3787G>C (p.Asp1263His) | |
| 16 | g.89282626C>T | CA397158713 | ANKRD11 | c.3916G>A (p.Asp1306Asn) c.*3719G>A (n.*3719G>A) c.744+5902G>A (n.744+5902G>A) c.151+5902G>A c.3814G>A (p.Asp1272Asn) c.3619G>A (p.Asp1207Asn) c.3787G>A (p.Asp1263Asn) | |
| 16 | g.89282627A>C | CA497374353 | ANKRD11 | c.3915T>G (p.Ser1305=) c.*3718T>G (n.*3718T>G) c.744+5901T>G (n.744+5901T>G) c.151+5901T>G c.3813T>G (p.Ser1271=) c.3618T>G (p.Ser1206=) c.3786T>G (p.Ser1262=) | |
| 16 | g.89282627A>G | CA497374355 | ANKRD11 | c.3915T>C (p.Ser1305=) c.*3718T>C (n.*3718T>C) c.744+5901T>C (n.744+5901T>C) c.151+5901T>C c.3813T>C (p.Ser1271=) c.3618T>C (p.Ser1206=) c.3786T>C (p.Ser1262=) | gnomAD v4 |
| 16 | g.89282627A>T | CA497374356 | ANKRD11 | c.3915T>A (p.Ser1305=) c.*3718T>A (n.*3718T>A) c.744+5901T>A (n.744+5901T>A) c.151+5901T>A c.3813T>A (p.Ser1271=) c.3618T>A (p.Ser1206=) c.3786T>A (p.Ser1262=) | |
| 16 | g.89282628G>A | CA397158714 | ANKRD11 | c.3914C>T (p.Ser1305Phe) c.*3717C>T (n.*3717C>T) c.744+5900C>T (n.744+5900C>T) c.151+5900C>T c.3812C>T (p.Ser1271Phe) c.3617C>T (p.Ser1206Phe) c.3785C>T (p.Ser1262Phe) | |
| 16 | g.89282628G>C | CA397158715 | ANKRD11 | c.3914C>G (p.Ser1305Cys) c.*3717C>G (n.*3717C>G) c.744+5900C>G (n.744+5900C>G) c.151+5900C>G c.3812C>G (p.Ser1271Cys) c.3617C>G (p.Ser1206Cys) c.3785C>G (p.Ser1262Cys) | |
| 16 | g.89282628G>T | CA397158716 | ANKRD11 | c.3914C>A (p.Ser1305Tyr) c.*3717C>A (n.*3717C>A) c.744+5900C>A (n.744+5900C>A) c.151+5900C>A c.3812C>A (p.Ser1271Tyr) c.3617C>A (p.Ser1206Tyr) c.3785C>A (p.Ser1262Tyr) | |
| 16 | g.89282631_89282633del | CA2634942515 | ANKRD11 | c.3912_3914del (p.Ser1305del) c.*3715_*3717del (n.*3715_*3717del) c.744+5898_744+5900del (n.744+5898_744+5900del) c.151+5898_151+5900del c.3810_3812del (p.Ser1271del) c.3615_3617del (p.Ser1206del) c.3783_3785del (p.Ser1262del) | gnomAD v4 |
| 16 | g.89282629A= | CA2241603339 | ANKRD11 | c.3913T= (p.Ser1305=) c.*3716T= (n.*3716T=) c.744+5899T= (n.744+5899T=) c.151+5899T= c.3811T= (p.Ser1271=) c.3616T= (p.Ser1206=) c.3784T= (p.Ser1262=) | |
| 16 | g.89282629A>C | CA397158717 | ANKRD11 | c.3913T>G (p.Ser1305Ala) c.*3716T>G (n.*3716T>G) c.744+5899T>G (n.744+5899T>G) c.151+5899T>G c.3811T>G (p.Ser1271Ala) c.3616T>G (p.Ser1206Ala) c.3784T>G (p.Ser1262Ala) | |
| 16 | g.89282629A>G | CA397158718 | ANKRD11 | c.3913T>C (p.Ser1305Pro) c.*3716T>C (n.*3716T>C) c.744+5899T>C (n.744+5899T>C) c.151+5899T>C c.3811T>C (p.Ser1271Pro) c.3616T>C (p.Ser1206Pro) c.3784T>C (p.Ser1262Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89282629A>T | CA397158719 | ANKRD11 | c.3913T>A (p.Ser1305Thr) c.*3716T>A (n.*3716T>A) c.744+5899T>A (n.744+5899T>A) c.151+5899T>A c.3811T>A (p.Ser1271Thr) c.3616T>A (p.Ser1206Thr) c.3784T>A (p.Ser1262Thr) | |
| 16 | g.89282630G>A | CA497374362 | ANKRD11 | c.3912C>T (p.Ser1304=) c.*3715C>T (n.*3715C>T) c.744+5898C>T (n.744+5898C>T) c.151+5898C>T c.3810C>T (p.Ser1270=) c.3615C>T (p.Ser1205=) c.3783C>T (p.Ser1261=) | gnomAD v4 |
| 16 | g.89282630G>C | CA497374363 | ANKRD11 | c.3912C>G (p.Ser1304=) c.*3715C>G (n.*3715C>G) c.744+5898C>G (n.744+5898C>G) c.151+5898C>G c.3810C>G (p.Ser1270=) c.3615C>G (p.Ser1205=) c.3783C>G (p.Ser1261=) | |
| 16 | g.89282630G>T | CA497374364 | ANKRD11 | c.3912C>A (p.Ser1304=) c.*3715C>A (n.*3715C>A) c.744+5898C>A (n.744+5898C>A) c.151+5898C>A c.3810C>A (p.Ser1270=) c.3615C>A (p.Ser1205=) c.3783C>A (p.Ser1261=) | |
| 16 | g.89282631G>A | CA8242260 | ANKRD11 | c.3911C>T (p.Ser1304Phe) c.*3714C>T (n.*3714C>T) c.744+5897C>T (n.744+5897C>T) c.151+5897C>T c.3809C>T (p.Ser1270Phe) c.3614C>T (p.Ser1205Phe) c.3782C>T (p.Ser1261Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89282631G>C | CA397158720 | ANKRD11 | c.3911C>G (p.Ser1304Cys) c.*3714C>G (n.*3714C>G) c.744+5897C>G (n.744+5897C>G) c.151+5897C>G c.3809C>G (p.Ser1270Cys) c.3614C>G (p.Ser1205Cys) c.3782C>G (p.Ser1261Cys) | |
| 16 | g.89282631G= | CA2241603341 | ANKRD11 | c.3911C= (p.Ser1304=) c.*3714C= (n.*3714C=) c.744+5897C= (n.744+5897C=) c.151+5897C= c.3809C= (p.Ser1270=) c.3614C= (p.Ser1205=) c.3782C= (p.Ser1261=) | |
| 16 | g.89282631G>T | CA397158721 | ANKRD11 | c.3911C>A (p.Ser1304Tyr) c.*3714C>A (n.*3714C>A) c.744+5897C>A (n.744+5897C>A) c.151+5897C>A c.3809C>A (p.Ser1270Tyr) c.3614C>A (p.Ser1205Tyr) c.3782C>A (p.Ser1261Tyr) | |
| 16 | g.89282633_89282634dup | CA2825002459 | ANKRD11 | c.3910_3911dup (p.Ser1305ProfsTer14) c.*3713_*3714dup (n.*3713_*3714dup) c.744+5896_744+5897dup (n.744+5896_744+5897dup) c.151+5896_151+5897dup c.3808_3809dup (p.Ser1271ProfsTer14) c.3613_3614dup (p.Ser1206ProfsTer14) c.3781_3782dup (p.Ser1262ProfsTer14) | ClinVar |
| 16 | g.89282632A= | CA2241603343 | ANKRD11 | c.3910T= (p.Ser1304=) c.*3713T= (n.*3713T=) c.744+5896T= (n.744+5896T=) c.151+5896T= c.3808T= (p.Ser1270=) c.3613T= (p.Ser1205=) c.3781T= (p.Ser1261=) | |
| 16 | g.89282632A>C | CA8242261 | ANKRD11 | c.3910T>G (p.Ser1304Ala) c.*3713T>G (n.*3713T>G) c.744+5896T>G (n.744+5896T>G) c.151+5896T>G c.3808T>G (p.Ser1270Ala) c.3613T>G (p.Ser1205Ala) c.3781T>G (p.Ser1261Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89282632A>G | CA397158723 | ANKRD11 | c.3910T>C (p.Ser1304Pro) c.*3713T>C (n.*3713T>C) c.744+5896T>C (n.744+5896T>C) c.151+5896T>C c.3808T>C (p.Ser1270Pro) c.3613T>C (p.Ser1205Pro) c.3781T>C (p.Ser1261Pro) | |
| 16 | g.89282632A>T | CA397158722 | ANKRD11 | c.3910T>A (p.Ser1304Thr) c.*3713T>A (n.*3713T>A) c.744+5896T>A (n.744+5896T>A) c.151+5896T>A c.3808T>A (p.Ser1270Thr) c.3613T>A (p.Ser1205Thr) c.3781T>A (p.Ser1261Thr) | |
| 16 | g.89282633G>A | CA497374370 | ANKRD11 | c.3909C>T (p.Val1303=) c.*3712C>T (n.*3712C>T) c.744+5895C>T (n.744+5895C>T) c.151+5895C>T c.3807C>T (p.Val1269=) c.3612C>T (p.Val1204=) c.3780C>T (p.Val1260=) | gnomAD v4 |
| 16 | g.89282633G>C | CA497374372 | ANKRD11 | c.3909C>G (p.Val1303=) c.*3712C>G (n.*3712C>G) c.744+5895C>G (n.744+5895C>G) c.151+5895C>G c.3807C>G (p.Val1269=) c.3612C>G (p.Val1204=) c.3780C>G (p.Val1260=) | gnomAD v4 |
| 16 | g.89282633G>T | CA497374375 | ANKRD11 | c.3909C>A (p.Val1303=) c.*3712C>A (n.*3712C>A) c.744+5895C>A (n.744+5895C>A) c.151+5895C>A c.3807C>A (p.Val1269=) c.3612C>A (p.Val1204=) c.3780C>A (p.Val1260=) | gnomAD v4 |
| 16 | g.89282634A= | CA2241603345 | ANKRD11 | c.3908T= (p.Val1303=) c.*3711T= (n.*3711T=) c.744+5894T= (n.744+5894T=) c.151+5894T= c.3806T= (p.Val1269=) c.3611T= (p.Val1204=) c.3779T= (p.Val1260=) | |
| 16 | g.89282634A>C | CA397158726 | ANKRD11 | c.3908T>G (p.Val1303Gly) c.*3711T>G (n.*3711T>G) c.744+5894T>G (n.744+5894T>G) c.151+5894T>G c.3806T>G (p.Val1269Gly) c.3611T>G (p.Val1204Gly) c.3779T>G (p.Val1260Gly) | |
| 16 | g.89282634A>G | CA397158724 | ANKRD11 | c.3908T>C (p.Val1303Ala) c.*3711T>C (n.*3711T>C) c.744+5894T>C (n.744+5894T>C) c.151+5894T>C c.3806T>C (p.Val1269Ala) c.3611T>C (p.Val1204Ala) c.3779T>C (p.Val1260Ala) | dbSNP |
| 16 | g.89282634A>T | CA397158725 | ANKRD11 | c.3908T>A (p.Val1303Asp) c.*3711T>A (n.*3711T>A) c.744+5894T>A (n.744+5894T>A) c.151+5894T>A c.3806T>A (p.Val1269Asp) c.3611T>A (p.Val1204Asp) c.3779T>A (p.Val1260Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89282635C>A | CA397158727 | ANKRD11 | c.3907G>T (p.Val1303Phe) c.*3710G>T (n.*3710G>T) c.744+5893G>T (n.744+5893G>T) c.151+5893G>T c.3805G>T (p.Val1269Phe) c.3610G>T (p.Val1204Phe) c.3778G>T (p.Val1260Phe) | |
| 16 | g.89282635C>G | CA397158728 | ANKRD11 | c.3907G>C (p.Val1303Leu) c.*3710G>C (n.*3710G>C) c.744+5893G>C (n.744+5893G>C) c.151+5893G>C c.3805G>C (p.Val1269Leu) c.3610G>C (p.Val1204Leu) c.3778G>C (p.Val1260Leu) | |
| 16 | g.89282635C>T | CA397158729 | ANKRD11 | c.3907G>A (p.Val1303Ile) c.*3710G>A (n.*3710G>A) c.744+5893G>A (n.744+5893G>A) c.151+5893G>A c.3805G>A (p.Val1269Ile) c.3610G>A (p.Val1204Ile) c.3778G>A (p.Val1260Ile) | gnomAD v4 |
| 16 | g.89282636del | CA2580092275 | ANKRD11 | c.3907del (p.Val1303SerfsTer15) c.*3710del (n.*3710del) c.744+5893del (n.744+5893del) c.151+5893del c.3805del (p.Val1269SerfsTer15) c.3610del (p.Val1204SerfsTer15) c.3778del (p.Val1260SerfsTer15) | ClinVar |
| 16 | g.89282636C>A | CA397158730 | ANKRD11 | c.3906G>T (p.Glu1302Asp) c.*3709G>T (n.*3709G>T) c.744+5892G>T (n.744+5892G>T) c.151+5892G>T c.3804G>T (p.Glu1268Asp) c.3609G>T (p.Glu1203Asp) c.3777G>T (p.Glu1259Asp) | |
| 16 | g.89282636C>G | CA397158731 | ANKRD11 | c.3906G>C (p.Glu1302Asp) c.*3709G>C (n.*3709G>C) c.744+5892G>C (n.744+5892G>C) c.151+5892G>C c.3804G>C (p.Glu1268Asp) c.3609G>C (p.Glu1203Asp) c.3777G>C (p.Glu1259Asp) | |
| 16 | g.89282636C>T | CA497374381 | ANKRD11 | c.3906G>A (p.Glu1302=) c.*3709G>A (n.*3709G>A) c.744+5892G>A (n.744+5892G>A) c.151+5892G>A c.3804G>A (p.Glu1268=) c.3609G>A (p.Glu1203=) c.3777G>A (p.Glu1259=) | |
| 16 | g.89282637_89282638del | CA2695223945 | ANKRD11 | c.3905_3906del (p.Glu1302GlyfsTer4) c.*3708_*3709del (n.*3708_*3709del) c.744+5891_744+5892del (n.744+5891_744+5892del) c.151+5891_151+5892del c.3803_3804del (p.Glu1268GlyfsTer4) c.3608_3609del (p.Glu1203GlyfsTer4) c.3776_3777del (p.Glu1259GlyfsTer4) | |
| 16 | g.89282637T>A | CA397158732 | ANKRD11 | c.3905A>T (p.Glu1302Val) c.*3708A>T (n.*3708A>T) c.744+5891A>T (n.744+5891A>T) c.151+5891A>T c.3803A>T (p.Glu1268Val) c.3608A>T (p.Glu1203Val) c.3776A>T (p.Glu1259Val) | |
| 16 | g.89282637T>C | CA397158733 | ANKRD11 | c.3905A>G (p.Glu1302Gly) c.*3708A>G (n.*3708A>G) c.744+5891A>G (n.744+5891A>G) c.151+5891A>G c.3803A>G (p.Glu1268Gly) c.3608A>G (p.Glu1203Gly) c.3776A>G (p.Glu1259Gly) | |
| 16 | g.89282637T>G | CA397158734 | ANKRD11 | c.3905A>C (p.Glu1302Ala) c.*3708A>C (n.*3708A>C) c.744+5891A>C (n.744+5891A>C) c.151+5891A>C c.3803A>C (p.Glu1268Ala) c.3608A>C (p.Glu1203Ala) c.3776A>C (p.Glu1259Ala) | |
| 16 | g.89282638C>A | CA397158735 | ANKRD11 | c.3904G>T (p.Glu1302Ter) c.*3707G>T (n.*3707G>T) c.744+5890G>T (n.744+5890G>T) c.151+5890G>T c.3802G>T (p.Glu1268Ter) c.3607G>T (p.Glu1203Ter) c.3775G>T (p.Glu1259Ter) | |
| 16 | g.89282638C= | CA2241603346 | ANKRD11 | c.3904G= (p.Glu1302=) c.*3707G= (n.*3707G=) c.744+5890G= (n.744+5890G=) c.151+5890G= c.3802G= (p.Glu1268=) c.3607G= (p.Glu1203=) c.3775G= (p.Glu1259=) | |
| 16 | g.89282638C>G | CA397158736 | ANKRD11 | c.3904G>C (p.Glu1302Gln) c.*3707G>C (n.*3707G>C) c.744+5890G>C (n.744+5890G>C) c.151+5890G>C c.3802G>C (p.Glu1268Gln) c.3607G>C (p.Glu1203Gln) c.3775G>C (p.Glu1259Gln) | |
| 16 | g.89282638C>T | CA397158737 | ANKRD11 | c.3904G>A (p.Glu1302Lys) c.*3707G>A (n.*3707G>A) c.744+5890G>A (n.744+5890G>A) c.151+5890G>A c.3802G>A (p.Glu1268Lys) c.3607G>A (p.Glu1203Lys) c.3775G>A (p.Glu1259Lys) | ClinVar dbSNP gnomAD v4 |
| 16 | g.89282639G>A | CA8242262 | ANKRD11 | c.3903C>T (p.Ser1301=) c.*3706C>T (n.*3706C>T) c.744+5889C>T (n.744+5889C>T) c.151+5889C>T c.3801C>T (p.Ser1267=) c.3606C>T (p.Ser1202=) c.3774C>T (p.Ser1258=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89282639G>C | CA397158739 | ANKRD11 | c.3903C>G (p.Ser1301Arg) c.*3706C>G (n.*3706C>G) c.744+5889C>G (n.744+5889C>G) c.151+5889C>G c.3801C>G (p.Ser1267Arg) c.3606C>G (p.Ser1202Arg) c.3774C>G (p.Ser1258Arg) | |
| 16 | g.89282639G= | CA2241603348 | ANKRD11 | c.3903C= (p.Ser1301=) c.*3706C= (n.*3706C=) c.744+5889C= (n.744+5889C=) c.151+5889C= c.3801C= (p.Ser1267=) c.3606C= (p.Ser1202=) c.3774C= (p.Ser1258=) | |
| 16 | g.89282639G>T | CA397158738 | ANKRD11 | c.3903C>A (p.Ser1301Arg) c.*3706C>A (n.*3706C>A) c.744+5889C>A (n.744+5889C>A) c.151+5889C>A c.3801C>A (p.Ser1267Arg) c.3606C>A (p.Ser1202Arg) c.3774C>A (p.Ser1258Arg) | dbSNP |
| 16 | g.89282640C>A | CA397158740 | ANKRD11 | c.3902G>T (p.Ser1301Ile) c.*3705G>T (n.*3705G>T) c.744+5888G>T (n.744+5888G>T) c.151+5888G>T c.3800G>T (p.Ser1267Ile) c.3605G>T (p.Ser1202Ile) c.3773G>T (p.Ser1258Ile) | |
| 16 | g.89282640C= | CA2241603350 | ANKRD11 | c.3902G= (p.Ser1301=) c.*3705G= (n.*3705G=) c.744+5888G= (n.744+5888G=) c.151+5888G= c.3800G= (p.Ser1267=) c.3605G= (p.Ser1202=) c.3773G= (p.Ser1258=) | |
| 16 | g.89282640C>G | CA397158741 | ANKRD11 | c.3902G>C (p.Ser1301Thr) c.*3705G>C (n.*3705G>C) c.744+5888G>C (n.744+5888G>C) c.151+5888G>C c.3800G>C (p.Ser1267Thr) c.3605G>C (p.Ser1202Thr) c.3773G>C (p.Ser1258Thr) | |
| 16 | g.89282640C>T | CA397158742 | ANKRD11 | c.3902G>A (p.Ser1301Asn) c.*3705G>A (n.*3705G>A) c.744+5888G>A (n.744+5888G>A) c.151+5888G>A c.3800G>A (p.Ser1267Asn) c.3605G>A (p.Ser1202Asn) c.3773G>A (p.Ser1258Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89282641T>A | CA397158743 | ANKRD11 | c.3901A>T (p.Ser1301Cys) c.*3704A>T (n.*3704A>T) c.744+5887A>T (n.744+5887A>T) c.151+5887A>T c.3799A>T (p.Ser1267Cys) c.3604A>T (p.Ser1202Cys) c.3772A>T (p.Ser1258Cys) | |
| 16 | g.89282641T>C | CA397158744 | ANKRD11 | c.3901A>G (p.Ser1301Gly) c.*3704A>G (n.*3704A>G) c.744+5887A>G (n.744+5887A>G) c.151+5887A>G c.3799A>G (p.Ser1267Gly) c.3604A>G (p.Ser1202Gly) c.3772A>G (p.Ser1258Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89282641T>G | CA397158745 | ANKRD11 | c.3901A>C (p.Ser1301Arg) c.*3704A>C (n.*3704A>C) c.744+5887A>C (n.744+5887A>C) c.151+5887A>C c.3799A>C (p.Ser1267Arg) c.3604A>C (p.Ser1202Arg) c.3772A>C (p.Ser1258Arg) | |
| 16 | g.89282641T= | CA2241603352 | ANKRD11 | c.3901A= (p.Ser1301=) c.*3704A= (n.*3704A=) c.744+5887A= (n.744+5887A=) c.151+5887A= c.3799A= (p.Ser1267=) c.3604A= (p.Ser1202=) c.3772A= (p.Ser1258=) | |
| 16 | g.89282642G>A | CA497374394 | ANKRD11 | c.3900C>T (p.Ile1300=) c.*3703C>T (n.*3703C>T) c.744+5886C>T (n.744+5886C>T) c.151+5886C>T c.3798C>T (p.Ile1266=) c.3603C>T (p.Ile1201=) c.3771C>T (p.Ile1257=) | |
| 16 | g.89282642G>C | CA397158746 | ANKRD11 | c.3900C>G (p.Ile1300Met) c.*3703C>G (n.*3703C>G) c.744+5886C>G (n.744+5886C>G) c.151+5886C>G c.3798C>G (p.Ile1266Met) c.3603C>G (p.Ile1201Met) c.3771C>G (p.Ile1257Met) | |
| 16 | g.89282642G>T | CA497374392 | ANKRD11 | c.3900C>A (p.Ile1300=) c.*3703C>A (n.*3703C>A) c.744+5886C>A (n.744+5886C>A) c.151+5886C>A c.3798C>A (p.Ile1266=) c.3603C>A (p.Ile1201=) c.3771C>A (p.Ile1257=) | |
| 16 | g.89282643A= | CA2241603355 | ANKRD11 | c.3899T= (p.Ile1300=) c.*3702T= (n.*3702T=) c.744+5885T= (n.744+5885T=) c.151+5885T= c.3797T= (p.Ile1266=) c.3602T= (p.Ile1201=) c.3770T= (p.Ile1257=) | |
| 16 | g.89282643A>C | CA8242263 | ANKRD11 | c.3899T>G (p.Ile1300Ser) c.*3702T>G (n.*3702T>G) c.744+5885T>G (n.744+5885T>G) c.151+5885T>G c.3797T>G (p.Ile1266Ser) c.3602T>G (p.Ile1201Ser) c.3770T>G (p.Ile1257Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89282643A>G | CA397158747 | ANKRD11 | c.3899T>C (p.Ile1300Thr) c.*3702T>C (n.*3702T>C) c.744+5885T>C (n.744+5885T>C) c.151+5885T>C c.3797T>C (p.Ile1266Thr) c.3602T>C (p.Ile1201Thr) c.3770T>C (p.Ile1257Thr) | |
| 16 | g.89282643A>T | CA397158748 | ANKRD11 | c.3899T>A (p.Ile1300Asn) c.*3702T>A (n.*3702T>A) c.744+5885T>A (n.744+5885T>A) c.151+5885T>A c.3797T>A (p.Ile1266Asn) c.3602T>A (p.Ile1201Asn) c.3770T>A (p.Ile1257Asn) | |
| 16 | g.89282644T>A | CA397158750 | ANKRD11 | c.3898A>T (p.Ile1300Phe) c.*3701A>T (n.*3701A>T) c.744+5884A>T (n.744+5884A>T) c.151+5884A>T c.3796A>T (p.Ile1266Phe) c.3601A>T (p.Ile1201Phe) c.3769A>T (p.Ile1257Phe) | |
| 16 | g.89282644T>C | CA8242264 | ANKRD11 | c.3898A>G (p.Ile1300Val) c.*3701A>G (n.*3701A>G) c.744+5884A>G (n.744+5884A>G) c.151+5884A>G c.3796A>G (p.Ile1266Val) c.3601A>G (p.Ile1201Val) c.3769A>G (p.Ile1257Val) | dbSNP ExAC gnomAD v2 |
| 16 | g.89282644T>G | CA397158749 | ANKRD11 | c.3898A>C (p.Ile1300Leu) c.*3701A>C (n.*3701A>C) c.744+5884A>C (n.744+5884A>C) c.151+5884A>C c.3796A>C (p.Ile1266Leu) c.3601A>C (p.Ile1201Leu) c.3769A>C (p.Ile1257Leu) | |
| 16 | g.89282644T= | CA2241603357 | ANKRD11 | c.3898A= (p.Ile1300=) c.*3701A= (n.*3701A=) c.744+5884A= (n.744+5884A=) c.151+5884A= c.3796A= (p.Ile1266=) c.3601A= (p.Ile1201=) c.3769A= (p.Ile1257=) | |
| 16 | g.89282645T>A | CA397158751 | ANKRD11 | c.3897A>T (p.Lys1299Asn) c.*3700A>T (n.*3700A>T) c.744+5883A>T (n.744+5883A>T) c.151+5883A>T c.3795A>T (p.Lys1265Asn) c.3600A>T (p.Lys1200Asn) c.3768A>T (p.Lys1256Asn) | |
| 16 | g.89282645T>C | CA497374398 | ANKRD11 | c.3897A>G (p.Lys1299=) c.*3700A>G (n.*3700A>G) c.744+5883A>G (n.744+5883A>G) c.151+5883A>G c.3795A>G (p.Lys1265=) c.3600A>G (p.Lys1200=) c.3768A>G (p.Lys1256=) | |
| 16 | g.89282645T>G | CA397158752 | ANKRD11 | c.3897A>C (p.Lys1299Asn) c.*3700A>C (n.*3700A>C) c.744+5883A>C (n.744+5883A>C) c.151+5883A>C c.3795A>C (p.Lys1265Asn) c.3600A>C (p.Lys1200Asn) c.3768A>C (p.Lys1256Asn) | gnomAD v4 |
| 16 | g.89282646T>A | CA397158753 | ANKRD11 | c.3896A>T (p.Lys1299Ile) c.*3699A>T (n.*3699A>T) c.744+5882A>T (n.744+5882A>T) c.151+5882A>T c.3794A>T (p.Lys1265Ile) c.3599A>T (p.Lys1200Ile) c.3767A>T (p.Lys1256Ile) | |
| 16 | g.89282646T>C | CA397158754 | ANKRD11 | c.3896A>G (p.Lys1299Arg) c.*3699A>G (n.*3699A>G) c.744+5882A>G (n.744+5882A>G) c.151+5882A>G c.3794A>G (p.Lys1265Arg) c.3599A>G (p.Lys1200Arg) c.3767A>G (p.Lys1256Arg) | |
| 16 | g.89282646T>G | CA397158755 | ANKRD11 | c.3896A>C (p.Lys1299Thr) c.*3699A>C (n.*3699A>C) c.744+5882A>C (n.744+5882A>C) c.151+5882A>C c.3794A>C (p.Lys1265Thr) c.3599A>C (p.Lys1200Thr) c.3767A>C (p.Lys1256Thr) | |
| 16 | g.89282647T>A | CA397158756 | ANKRD11 | c.3895A>T (p.Lys1299Ter) c.*3698A>T (n.*3698A>T) c.744+5881A>T (n.744+5881A>T) c.151+5881A>T c.3793A>T (p.Lys1265Ter) c.3598A>T (p.Lys1200Ter) c.3766A>T (p.Lys1256Ter) | |
| 16 | g.89282647T>C | CA397158757 | ANKRD11 | c.3895A>G (p.Lys1299Glu) c.*3698A>G (n.*3698A>G) c.744+5881A>G (n.744+5881A>G) c.151+5881A>G c.3793A>G (p.Lys1265Glu) c.3598A>G (p.Lys1200Glu) c.3766A>G (p.Lys1256Glu) | |
| 16 | g.89282647T>G | CA397158758 | ANKRD11 | c.3895A>C (p.Lys1299Gln) c.*3698A>C (n.*3698A>C) c.744+5881A>C (n.744+5881A>C) c.151+5881A>C c.3793A>C (p.Lys1265Gln) c.3598A>C (p.Lys1200Gln) c.3766A>C (p.Lys1256Gln) | |
| 16 | g.89282648A>C | CA397158759 | ANKRD11 | c.3894T>G (p.Asp1298Glu) c.*3697T>G (n.*3697T>G) c.744+5880T>G (n.744+5880T>G) c.151+5880T>G c.3792T>G (p.Asp1264Glu) c.3597T>G (p.Asp1199Glu) c.3765T>G (p.Asp1255Glu) | |
| 16 | g.89282648A>G | CA497374401 | ANKRD11 | c.3894T>C (p.Asp1298=) c.*3697T>C (n.*3697T>C) c.744+5880T>C (n.744+5880T>C) c.151+5880T>C c.3792T>C (p.Asp1264=) c.3597T>C (p.Asp1199=) c.3765T>C (p.Asp1255=) | |
| 16 | g.89282648A>T | CA397158760 | ANKRD11 | c.3894T>A (p.Asp1298Glu) c.*3697T>A (n.*3697T>A) c.744+5880T>A (n.744+5880T>A) c.151+5880T>A c.3792T>A (p.Asp1264Glu) c.3597T>A (p.Asp1199Glu) c.3765T>A (p.Asp1255Glu) | |
| 16 | g.89282649T>A | CA397158761 | ANKRD11 | c.3893A>T (p.Asp1298Val) c.*3696A>T (n.*3696A>T) c.744+5879A>T (n.744+5879A>T) c.151+5879A>T c.3791A>T (p.Asp1264Val) c.3596A>T (p.Asp1199Val) c.3764A>T (p.Asp1255Val) | |
| 16 | g.89282649T>C | CA397158762 | ANKRD11 | c.3893A>G (p.Asp1298Gly) c.*3696A>G (n.*3696A>G) c.744+5879A>G (n.744+5879A>G) c.151+5879A>G c.3791A>G (p.Asp1264Gly) c.3596A>G (p.Asp1199Gly) c.3764A>G (p.Asp1255Gly) | |
| 16 | g.89282649T>G | CA397158763 | ANKRD11 | c.3893A>C (p.Asp1298Ala) c.*3696A>C (n.*3696A>C) c.744+5879A>C (n.744+5879A>C) c.151+5879A>C c.3791A>C (p.Asp1264Ala) c.3596A>C (p.Asp1199Ala) c.3764A>C (p.Asp1255Ala) | |
| 16 | g.89282650C>A | CA397158766 | ANKRD11 | c.3892G>T (p.Asp1298Tyr) c.*3695G>T (n.*3695G>T) c.744+5878G>T (n.744+5878G>T) c.151+5878G>T c.3790G>T (p.Asp1264Tyr) c.3595G>T (p.Asp1199Tyr) c.3763G>T (p.Asp1255Tyr) | |
| 16 | g.89282650C= | CA2241603360 | ANKRD11 | c.3892G= (p.Asp1298=) c.*3695G= (n.*3695G=) c.744+5878G= (n.744+5878G=) c.151+5878G= c.3790G= (p.Asp1264=) c.3595G= (p.Asp1199=) c.3763G= (p.Asp1255=) | |
| 16 | g.89282650C>G | CA397158765 | ANKRD11 | c.3892G>C (p.Asp1298His) c.*3695G>C (n.*3695G>C) c.744+5878G>C (n.744+5878G>C) c.151+5878G>C c.3790G>C (p.Asp1264His) c.3595G>C (p.Asp1199His) c.3763G>C (p.Asp1255His) | |
| 16 | g.89282650C>T | CA397158764 | ANKRD11 | c.3892G>A (p.Asp1298Asn) c.*3695G>A (n.*3695G>A) c.744+5878G>A (n.744+5878G>A) c.151+5878G>A c.3790G>A (p.Asp1264Asn) c.3595G>A (p.Asp1199Asn) c.3763G>A (p.Asp1255Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.89282651G>A | CA8242266 | ANKRD11 | c.3891C>T (p.Asn1297=) c.*3694C>T (n.*3694C>T) c.744+5877C>T (n.744+5877C>T) c.151+5877C>T c.3789C>T (p.Asn1263=) c.3594C>T (p.Asn1198=) c.3762C>T (p.Asn1254=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89282651G>C | CA397158767 | ANKRD11 | c.3891C>G (p.Asn1297Lys) c.*3694C>G (n.*3694C>G) c.744+5877C>G (n.744+5877C>G) c.151+5877C>G c.3789C>G (p.Asn1263Lys) c.3594C>G (p.Asn1198Lys) c.3762C>G (p.Asn1254Lys) | |
| 16 | g.89282651G= | CA2241603364 | ANKRD11 | c.3891C= (p.Asn1297=) c.*3694C= (n.*3694C=) c.744+5877C= (n.744+5877C=) c.151+5877C= c.3789C= (p.Asn1263=) c.3594C= (p.Asn1198=) c.3762C= (p.Asn1254=) | |
| 16 | g.89282651G>T | CA397158768 | ANKRD11 | c.3891C>A (p.Asn1297Lys) c.*3694C>A (n.*3694C>A) c.744+5877C>A (n.744+5877C>A) c.151+5877C>A c.3789C>A (p.Asn1263Lys) c.3594C>A (p.Asn1198Lys) c.3762C>A (p.Asn1254Lys) | gnomAD v4 |
| 16 | g.89282652_89282654dup | CA8242265 | ANKRD11 | c.3889_3891dup (p.Asn1297_Asp1298insAsn) c.*3692_*3694dup (n.*3692_*3694dup) c.744+5875_744+5877dup (n.744+5875_744+5877dup) c.151+5875_151+5877dup c.3787_3789dup (p.Asn1263_Asp1264insAsn) c.3592_3594dup (p.Asn1198_Asp1199insAsn) c.3760_3762dup (p.Asn1254_Asp1255insAsn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89282652T>A | CA397158769 | ANKRD11 | c.3890A>T (p.Asn1297Ile) c.*3693A>T (n.*3693A>T) c.744+5876A>T (n.744+5876A>T) c.151+5876A>T c.3788A>T (p.Asn1263Ile) c.3593A>T (p.Asn1198Ile) c.3761A>T (p.Asn1254Ile) | |
| 16 | g.89282652T>C | CA8242267 | ANKRD11 | c.3890A>G (p.Asn1297Ser) c.*3693A>G (n.*3693A>G) c.744+5876A>G (n.744+5876A>G) c.151+5876A>G c.3788A>G (p.Asn1263Ser) c.3593A>G (p.Asn1198Ser) c.3761A>G (p.Asn1254Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89282652T>G | CA397158770 | ANKRD11 | c.3890A>C (p.Asn1297Thr) c.*3693A>C (n.*3693A>C) c.744+5876A>C (n.744+5876A>C) c.151+5876A>C c.3788A>C (p.Asn1263Thr) c.3593A>C (p.Asn1198Thr) c.3761A>C (p.Asn1254Thr) | |
| 16 | g.89282652T= | CA2241603367 | ANKRD11 | c.3890A= (p.Asn1297=) c.*3693A= (n.*3693A=) c.744+5876A= (n.744+5876A=) c.151+5876A= c.3788A= (p.Asn1263=) c.3593A= (p.Asn1198=) c.3761A= (p.Asn1254=) | |
| 16 | g.89282653T>A | CA397158771 | ANKRD11 | c.3889A>T (p.Asn1297Tyr) c.*3692A>T (n.*3692A>T) c.744+5875A>T (n.744+5875A>T) c.151+5875A>T c.3787A>T (p.Asn1263Tyr) c.3592A>T (p.Asn1198Tyr) c.3760A>T (p.Asn1254Tyr) | |
| 16 | g.89282653T>C | CA397158772 | ANKRD11 | c.3889A>G (p.Asn1297Asp) c.*3692A>G (n.*3692A>G) c.744+5875A>G (n.744+5875A>G) c.151+5875A>G c.3787A>G (p.Asn1263Asp) c.3592A>G (p.Asn1198Asp) c.3760A>G (p.Asn1254Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89282653T>G | CA397158773 | ANKRD11 | c.3889A>C (p.Asn1297His) c.*3692A>C (n.*3692A>C) c.744+5875A>C (n.744+5875A>C) c.151+5875A>C c.3787A>C (p.Asn1263His) c.3592A>C (p.Asn1198His) c.3760A>C (p.Asn1254His) | |
| 16 | g.89282653T= | CA2241603369 | ANKRD11 | c.3889A= (p.Asn1297=) c.*3692A= (n.*3692A=) c.744+5875A= (n.744+5875A=) c.151+5875A= c.3787A= (p.Asn1263=) c.3592A= (p.Asn1198=) c.3760A= (p.Asn1254=) | |
| 16 | g.89282654G>A | CA497374408 | ANKRD11 | c.3888C>T (p.Ser1296=) c.*3691C>T (n.*3691C>T) c.744+5874C>T (n.744+5874C>T) c.151+5874C>T c.3786C>T (p.Ser1262=) c.3591C>T (p.Ser1197=) c.3759C>T (p.Ser1253=) | dbSNP |
| 16 | g.89282654G>C | CA497374409 | ANKRD11 | c.3888C>G (p.Ser1296=) c.*3691C>G (n.*3691C>G) c.744+5874C>G (n.744+5874C>G) c.151+5874C>G c.3786C>G (p.Ser1262=) c.3591C>G (p.Ser1197=) c.3759C>G (p.Ser1253=) | gnomAD v4 |
| 16 | g.89282654G= | CA2241603370 | ANKRD11 | c.3888C= (p.Ser1296=) c.*3691C= (n.*3691C=) c.744+5874C= (n.744+5874C=) c.151+5874C= c.3786C= (p.Ser1262=) c.3591C= (p.Ser1197=) c.3759C= (p.Ser1253=) | |
| 16 | g.89282654G>T | CA497374410 | ANKRD11 | c.3888C>A (p.Ser1296=) c.*3691C>A (n.*3691C>A) c.744+5874C>A (n.744+5874C>A) c.151+5874C>A c.3786C>A (p.Ser1262=) c.3591C>A (p.Ser1197=) c.3759C>A (p.Ser1253=) | |
| 16 | g.89282655dup | CA2499223791 | ANKRD11 | c.3888dup (p.Asn1297GlnfsTer3) c.*3691dup (n.*3691dup) c.744+5874dup (n.744+5874dup) c.151+5874dup c.3786dup (p.Asn1263GlnfsTer3) c.3591dup (p.Asn1198GlnfsTer3) c.3759dup (p.Asn1254GlnfsTer3) | ClinVar dbSNP |
| 16 | g.89282655G>A | CA397158774 | ANKRD11 | c.3887C>T (p.Ser1296Phe) c.*3690C>T (n.*3690C>T) c.744+5873C>T (n.744+5873C>T) c.151+5873C>T c.3785C>T (p.Ser1262Phe) c.3590C>T (p.Ser1197Phe) c.3758C>T (p.Ser1253Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89282655G>C | CA397158775 | ANKRD11 | c.3887C>G (p.Ser1296Cys) c.*3690C>G (n.*3690C>G) c.744+5873C>G (n.744+5873C>G) c.151+5873C>G c.3785C>G (p.Ser1262Cys) c.3590C>G (p.Ser1197Cys) c.3758C>G (p.Ser1253Cys) | |
| 16 | g.89282655G= | CA2241603372 | ANKRD11 | c.3887C= (p.Ser1296=) c.*3690C= (n.*3690C=) c.744+5873C= (n.744+5873C=) c.151+5873C= c.3785C= (p.Ser1262=) c.3590C= (p.Ser1197=) c.3758C= (p.Ser1253=) | |
| 16 | g.89282655G>T | CA397158776 | ANKRD11 | c.3887C>A (p.Ser1296Tyr) c.*3690C>A (n.*3690C>A) c.744+5873C>A (n.744+5873C>A) c.151+5873C>A c.3785C>A (p.Ser1262Tyr) c.3590C>A (p.Ser1197Tyr) c.3758C>A (p.Ser1253Tyr) | |
| 16 | g.89282656A= | CA2241603374 | ANKRD11 | c.3886T= (p.Ser1296=) c.*3689T= (n.*3689T=) c.744+5872T= (n.744+5872T=) c.151+5872T= c.3784T= (p.Ser1262=) c.3589T= (p.Ser1197=) c.3757T= (p.Ser1253=) | |
| 16 | g.89282656A>C | CA397158779 | ANKRD11 | c.3886T>G (p.Ser1296Ala) c.*3689T>G (n.*3689T>G) c.744+5872T>G (n.744+5872T>G) c.151+5872T>G c.3784T>G (p.Ser1262Ala) c.3589T>G (p.Ser1197Ala) c.3757T>G (p.Ser1253Ala) | |
| 16 | g.89282656A>G | CA397158778 | ANKRD11 | c.3886T>C (p.Ser1296Pro) c.*3689T>C (n.*3689T>C) c.744+5872T>C (n.744+5872T>C) c.151+5872T>C c.3784T>C (p.Ser1262Pro) c.3589T>C (p.Ser1197Pro) c.3757T>C (p.Ser1253Pro) | |
| 16 | g.89282656A>T | CA397158777 | ANKRD11 | c.3886T>A (p.Ser1296Thr) c.*3689T>A (n.*3689T>A) c.744+5872T>A (n.744+5872T>A) c.151+5872T>A c.3784T>A (p.Ser1262Thr) c.3589T>A (p.Ser1197Thr) c.3757T>A (p.Ser1253Thr) | |
| 16 | g.89282657G>A | CA8242268 | ANKRD11 | c.3885C>T (p.Asp1295=) c.*3688C>T (n.*3688C>T) c.744+5871C>T (n.744+5871C>T) c.151+5871C>T c.3783C>T (p.Asp1261=) c.3588C>T (p.Asp1196=) c.3756C>T (p.Asp1252=) | dbSNP ExAC gnomAD v2 |
| 16 | g.89282657G>C | CA397158781 | ANKRD11 | c.3885C>G (p.Asp1295Glu) c.*3688C>G (n.*3688C>G) c.744+5871C>G (n.744+5871C>G) c.151+5871C>G c.3783C>G (p.Asp1261Glu) c.3588C>G (p.Asp1196Glu) c.3756C>G (p.Asp1252Glu) | |
| 16 | g.89282657G= | CA2241603377 | ANKRD11 | c.3885C= (p.Asp1295=) c.*3688C= (n.*3688C=) c.744+5871C= (n.744+5871C=) c.151+5871C= c.3783C= (p.Asp1261=) c.3588C= (p.Asp1196=) c.3756C= (p.Asp1252=) | |
| 16 | g.89282657G>T | CA397158780 | ANKRD11 | c.3885C>A (p.Asp1295Glu) c.*3688C>A (n.*3688C>A) c.744+5871C>A (n.744+5871C>A) c.151+5871C>A c.3783C>A (p.Asp1261Glu) c.3588C>A (p.Asp1196Glu) c.3756C>A (p.Asp1252Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89282657_89282660dup | CA915949421 | ANKRD11 | c.3882_3885dup (p.Ser1296ArgfsTer5) c.*3685_*3688dup (n.*3685_*3688dup) c.744+5868_744+5871dup (n.744+5868_744+5871dup) c.151+5868_151+5871dup c.3780_3783dup (p.Ser1262ArgfsTer5) c.3585_3588dup (p.Ser1197ArgfsTer5) c.3753_3756dup (p.Ser1253ArgfsTer5) | ClinVar dbSNP |
| 16 | g.89282658T>A | CA397158782 | ANKRD11 | c.3884A>T (p.Asp1295Val) c.*3687A>T (n.*3687A>T) c.744+5870A>T (n.744+5870A>T) c.151+5870A>T c.3782A>T (p.Asp1261Val) c.3587A>T (p.Asp1196Val) c.3755A>T (p.Asp1252Val) | |
| 16 | g.89282658T>C | CA397158783 | ANKRD11 | c.3884A>G (p.Asp1295Gly) c.*3687A>G (n.*3687A>G) c.744+5870A>G (n.744+5870A>G) c.151+5870A>G c.3782A>G (p.Asp1261Gly) c.3587A>G (p.Asp1196Gly) c.3755A>G (p.Asp1252Gly) | gnomAD v4 |
| 16 | g.89282658T>G | CA8242269 | ANKRD11 | c.3884A>C (p.Asp1295Ala) c.*3687A>C (n.*3687A>C) c.744+5870A>C (n.744+5870A>C) c.151+5870A>C c.3782A>C (p.Asp1261Ala) c.3587A>C (p.Asp1196Ala) c.3755A>C (p.Asp1252Ala) | dbSNP ExAC gnomAD v2 |
| 16 | g.89282658T= | CA2241603380 | ANKRD11 | c.3884A= (p.Asp1295=) c.*3687A= (n.*3687A=) c.744+5870A= (n.744+5870A=) c.151+5870A= c.3782A= (p.Asp1261=) c.3587A= (p.Asp1196=) c.3755A= (p.Asp1252=) | |
| 16 | g.89282659C>A | CA397158784 | ANKRD11 | c.3883G>T (p.Asp1295Tyr) c.*3686G>T (n.*3686G>T) c.744+5869G>T (n.744+5869G>T) c.151+5869G>T c.3781G>T (p.Asp1261Tyr) c.3586G>T (p.Asp1196Tyr) c.3754G>T (p.Asp1252Tyr) | |
| 16 | g.89282659C>G | CA397158785 | ANKRD11 | c.3883G>C (p.Asp1295His) c.*3686G>C (n.*3686G>C) c.744+5869G>C (n.744+5869G>C) c.151+5869G>C c.3781G>C (p.Asp1261His) c.3586G>C (p.Asp1196His) c.3754G>C (p.Asp1252His) | |
| 16 | g.89282659C>T | CA397158786 | ANKRD11 | c.3883G>A (p.Asp1295Asn) c.*3686G>A (n.*3686G>A) c.744+5869G>A (n.744+5869G>A) c.151+5869G>A c.3781G>A (p.Asp1261Asn) c.3586G>A (p.Asp1196Asn) c.3754G>A (p.Asp1252Asn) | gnomAD v4 |
| 16 | g.89282660T>A | CA397158787 | ANKRD11 | c.3882A>T (p.Glu1294Asp) c.*3685A>T (n.*3685A>T) c.744+5868A>T (n.744+5868A>T) c.151+5868A>T c.3780A>T (p.Glu1260Asp) c.3585A>T (p.Glu1195Asp) c.3753A>T (p.Glu1251Asp) | |
| 16 | g.89282660T>C | CA8242270 | ANKRD11 | c.3882A>G (p.Glu1294=) c.*3685A>G (n.*3685A>G) c.744+5868A>G (n.744+5868A>G) c.151+5868A>G c.3780A>G (p.Glu1260=) c.3585A>G (p.Glu1195=) c.3753A>G (p.Glu1251=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89282660T>G | CA397158788 | ANKRD11 | c.3882A>C (p.Glu1294Asp) c.*3685A>C (n.*3685A>C) c.744+5868A>C (n.744+5868A>C) c.151+5868A>C c.3780A>C (p.Glu1260Asp) c.3585A>C (p.Glu1195Asp) c.3753A>C (p.Glu1251Asp) | |
| 16 | g.89282660T= | CA2241603382 | ANKRD11 | c.3882A= (p.Glu1294=) c.*3685A= (n.*3685A=) c.744+5868A= (n.744+5868A=) c.151+5868A= c.3780A= (p.Glu1260=) c.3585A= (p.Glu1195=) c.3753A= (p.Glu1251=) | |
| 16 | g.89282661T>A | CA397158789 | ANKRD11 | c.3881A>T (p.Glu1294Val) c.*3684A>T (n.*3684A>T) c.744+5867A>T (n.744+5867A>T) c.151+5867A>T c.3779A>T (p.Glu1260Val) c.3584A>T (p.Glu1195Val) c.3752A>T (p.Glu1251Val) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89282661T>C | CA397158790 | ANKRD11 | c.3881A>G (p.Glu1294Gly) c.*3684A>G (n.*3684A>G) c.744+5867A>G (n.744+5867A>G) c.151+5867A>G c.3779A>G (p.Glu1260Gly) c.3584A>G (p.Glu1195Gly) c.3752A>G (p.Glu1251Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89282661T>G | CA397158791 | ANKRD11 | c.3881A>C (p.Glu1294Ala) c.*3684A>C (n.*3684A>C) c.744+5867A>C (n.744+5867A>C) c.151+5867A>C c.3779A>C (p.Glu1260Ala) c.3584A>C (p.Glu1195Ala) c.3752A>C (p.Glu1251Ala) | |
| 16 | g.89282661T= | CA2241603387 | ANKRD11 | c.3881A= (p.Glu1294=) c.*3684A= (n.*3684A=) c.744+5867A= (n.744+5867A=) c.151+5867A= c.3779A= (p.Glu1260=) c.3584A= (p.Glu1195=) c.3752A= (p.Glu1251=) | |
| 16 | g.89282662C>A | CA397158792 | ANKRD11 | c.3880G>T (p.Glu1294Ter) c.*3683G>T (n.*3683G>T) c.744+5866G>T (n.744+5866G>T) c.151+5866G>T c.3778G>T (p.Glu1260Ter) c.3583G>T (p.Glu1195Ter) c.3751G>T (p.Glu1251Ter) | |
| 16 | g.89282662C= | CA2241603389 | ANKRD11 | c.3880G= (p.Glu1294=) c.*3683G= (n.*3683G=) c.744+5866G= (n.744+5866G=) c.151+5866G= c.3778G= (p.Glu1260=) c.3583G= (p.Glu1195=) c.3751G= (p.Glu1251=) | |
| 16 | g.89282662C>G | CA8242271 | ANKRD11 | c.3880G>C (p.Glu1294Gln) c.*3683G>C (n.*3683G>C) c.744+5866G>C (n.744+5866G>C) c.151+5866G>C c.3778G>C (p.Glu1260Gln) c.3583G>C (p.Glu1195Gln) c.3751G>C (p.Glu1251Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89282662C>T | CA397158793 | ANKRD11 | c.3880G>A (p.Glu1294Lys) c.*3683G>A (n.*3683G>A) c.744+5866G>A (n.744+5866G>A) c.151+5866G>A c.3778G>A (p.Glu1260Lys) c.3583G>A (p.Glu1195Lys) c.3751G>A (p.Glu1251Lys) | |
| 16 | g.89282663T>A | CA397158794 | ANKRD11 | c.3879A>T (p.Arg1293Ser) c.*3682A>T (n.*3682A>T) c.744+5865A>T (n.744+5865A>T) c.151+5865A>T c.3777A>T (p.Arg1259Ser) c.3582A>T (p.Arg1194Ser) c.3750A>T (p.Arg1250Ser) | |
| 16 | g.89282663T>C | CA497374427 | ANKRD11 | c.3879A>G (p.Arg1293=) c.*3682A>G (n.*3682A>G) c.744+5865A>G (n.744+5865A>G) c.151+5865A>G c.3777A>G (p.Arg1259=) c.3582A>G (p.Arg1194=) c.3750A>G (p.Arg1250=) | |
| 16 | g.89282663T>G | CA397158795 | ANKRD11 | c.3879A>C (p.Arg1293Ser) c.*3682A>C (n.*3682A>C) c.744+5865A>C (n.744+5865A>C) c.151+5865A>C c.3777A>C (p.Arg1259Ser) c.3582A>C (p.Arg1194Ser) c.3750A>C (p.Arg1250Ser) | |
| 16 | g.89282664C>A | CA397158796 | ANKRD11 | c.3878G>T (p.Arg1293Ile) c.*3681G>T (n.*3681G>T) c.744+5864G>T (n.744+5864G>T) c.151+5864G>T c.3776G>T (p.Arg1259Ile) c.3581G>T (p.Arg1194Ile) c.3749G>T (p.Arg1250Ile) | |
| 16 | g.89282664C>G | CA397158797 | ANKRD11 | c.3878G>C (p.Arg1293Thr) c.*3681G>C (n.*3681G>C) c.744+5864G>C (n.744+5864G>C) c.151+5864G>C c.3776G>C (p.Arg1259Thr) c.3581G>C (p.Arg1194Thr) c.3749G>C (p.Arg1250Thr) | |
| 16 | g.89282664C>T | CA397158798 | ANKRD11 | c.3878G>A (p.Arg1293Lys) c.*3681G>A (n.*3681G>A) c.744+5864G>A (n.744+5864G>A) c.151+5864G>A c.3776G>A (p.Arg1259Lys) c.3581G>A (p.Arg1194Lys) c.3749G>A (p.Arg1250Lys) | gnomAD v4 |
| 16 | g.89282665T>A | CA397158799 | ANKRD11 | c.3877A>T (p.Arg1293Ter) c.*3680A>T (n.*3680A>T) c.744+5863A>T (n.744+5863A>T) c.151+5863A>T c.3775A>T (p.Arg1259Ter) c.3580A>T (p.Arg1194Ter) c.3748A>T (p.Arg1250Ter) | |
| 16 | g.89282665T>C | CA397158800 | ANKRD11 | c.3877A>G (p.Arg1293Gly) c.*3680A>G (n.*3680A>G) c.744+5863A>G (n.744+5863A>G) c.151+5863A>G c.3775A>G (p.Arg1259Gly) c.3580A>G (p.Arg1194Gly) c.3748A>G (p.Arg1250Gly) | gnomAD v4 |
| 16 | g.89282665T>G | CA497374430 | ANKRD11 | c.3877A>C (p.Arg1293=) c.*3680A>C (n.*3680A>C) c.744+5863A>C (n.744+5863A>C) c.151+5863A>C c.3775A>C (p.Arg1259=) c.3580A>C (p.Arg1194=) c.3748A>C (p.Arg1250=) | |
| 16 | g.89282666G>A | CA497374432 | ANKRD11 | c.3876C>T (p.Tyr1292=) c.*3679C>T (n.*3679C>T) c.744+5862C>T (n.744+5862C>T) c.151+5862C>T c.3774C>T (p.Tyr1258=) c.3579C>T (p.Tyr1193=) c.3747C>T (p.Tyr1249=) | |
| 16 | g.89282666G>C | CA397158801 | ANKRD11 | c.3876C>G (p.Tyr1292Ter) c.*3679C>G (n.*3679C>G) c.744+5862C>G (n.744+5862C>G) c.151+5862C>G c.3774C>G (p.Tyr1258Ter) c.3579C>G (p.Tyr1193Ter) c.3747C>G (p.Tyr1249Ter) | |
| 16 | g.89282666G>T | CA397158802 | ANKRD11 | c.3876C>A (p.Tyr1292Ter) c.*3679C>A (n.*3679C>A) c.744+5862C>A (n.744+5862C>A) c.151+5862C>A c.3774C>A (p.Tyr1258Ter) c.3579C>A (p.Tyr1193Ter) c.3747C>A (p.Tyr1249Ter) | |
| 16 | g.89282667T>A | CA397158803 | ANKRD11 | c.3875A>T (p.Tyr1292Phe) c.*3678A>T (n.*3678A>T) c.744+5861A>T (n.744+5861A>T) c.151+5861A>T c.3773A>T (p.Tyr1258Phe) c.3578A>T (p.Tyr1193Phe) c.3746A>T (p.Tyr1249Phe) | |
| 16 | g.89282667T>C | CA397158804 | ANKRD11 | c.3875A>G (p.Tyr1292Cys) c.*3678A>G (n.*3678A>G) c.744+5861A>G (n.744+5861A>G) c.151+5861A>G c.3773A>G (p.Tyr1258Cys) c.3578A>G (p.Tyr1193Cys) c.3746A>G (p.Tyr1249Cys) | |
| 16 | g.89282667T>G | CA397158805 | ANKRD11 | c.3875A>C (p.Tyr1292Ser) c.*3678A>C (n.*3678A>C) c.744+5861A>C (n.744+5861A>C) c.151+5861A>C c.3773A>C (p.Tyr1258Ser) c.3578A>C (p.Tyr1193Ser) c.3746A>C (p.Tyr1249Ser) | |
| 16 | g.89282668A>C | CA397158807 | ANKRD11 | c.3874T>G (p.Tyr1292Asp) c.*3677T>G (n.*3677T>G) c.744+5860T>G (n.744+5860T>G) c.151+5860T>G c.3772T>G (p.Tyr1258Asp) c.3577T>G (p.Tyr1193Asp) c.3745T>G (p.Tyr1249Asp) | |
| 16 | g.89282668A>G | CA397158808 | ANKRD11 | c.3874T>C (p.Tyr1292His) c.*3677T>C (n.*3677T>C) c.744+5860T>C (n.744+5860T>C) c.151+5860T>C c.3772T>C (p.Tyr1258His) c.3577T>C (p.Tyr1193His) c.3745T>C (p.Tyr1249His) | |
| 16 | g.89282668A>T | CA397158806 | ANKRD11 | c.3874T>A (p.Tyr1292Asn) c.*3677T>A (n.*3677T>A) c.744+5860T>A (n.744+5860T>A) c.151+5860T>A c.3772T>A (p.Tyr1258Asn) c.3577T>A (p.Tyr1193Asn) c.3745T>A (p.Tyr1249Asn) | |
| 16 | g.89282669C>A | CA397158809 | ANKRD11 | c.3873G>T (p.Glu1291Asp) c.*3676G>T (n.*3676G>T) c.744+5859G>T (n.744+5859G>T) c.151+5859G>T c.3771G>T (p.Glu1257Asp) c.3576G>T (p.Glu1192Asp) c.3744G>T (p.Glu1248Asp) | |
| 16 | g.89282669C>G | CA397158810 | ANKRD11 | c.3873G>C (p.Glu1291Asp) c.*3676G>C (n.*3676G>C) c.744+5859G>C (n.744+5859G>C) c.151+5859G>C c.3771G>C (p.Glu1257Asp) c.3576G>C (p.Glu1192Asp) c.3744G>C (p.Glu1248Asp) | gnomAD v4 |
| 16 | g.89282669C>T | CA497374437 | ANKRD11 | c.3873G>A (p.Glu1291=) c.*3676G>A (n.*3676G>A) c.744+5859G>A (n.744+5859G>A) c.151+5859G>A c.3771G>A (p.Glu1257=) c.3576G>A (p.Glu1192=) c.3744G>A (p.Glu1248=) | |
| 16 | g.89282670T>A | CA397158811 | ANKRD11 | c.3872A>T (p.Glu1291Val) c.*3675A>T (n.*3675A>T) c.744+5858A>T (n.744+5858A>T) c.151+5858A>T c.3770A>T (p.Glu1257Val) c.3575A>T (p.Glu1192Val) c.3743A>T (p.Glu1248Val) | |
| 16 | g.89282670T>C | CA8242272 | ANKRD11 | c.3872A>G (p.Glu1291Gly) c.*3675A>G (n.*3675A>G) c.744+5858A>G (n.744+5858A>G) c.151+5858A>G c.3770A>G (p.Glu1257Gly) c.3575A>G (p.Glu1192Gly) c.3743A>G (p.Glu1248Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89282670T>G | CA397158812 | ANKRD11 | c.3872A>C (p.Glu1291Ala) c.*3675A>C (n.*3675A>C) c.744+5858A>C (n.744+5858A>C) c.151+5858A>C c.3770A>C (p.Glu1257Ala) c.3575A>C (p.Glu1192Ala) c.3743A>C (p.Glu1248Ala) | |
| 16 | g.89282670T= | CA2241603391 | ANKRD11 | c.3872A= (p.Glu1291=) c.*3675A= (n.*3675A=) c.744+5858A= (n.744+5858A=) c.151+5858A= c.3770A= (p.Glu1257=) c.3575A= (p.Glu1192=) c.3743A= (p.Glu1248=) | |
| 16 | g.89282671C>A | CA397158815 | ANKRD11 | c.3871G>T (p.Glu1291Ter) c.*3674G>T (n.*3674G>T) c.744+5857G>T (n.744+5857G>T) c.151+5857G>T c.3769G>T (p.Glu1257Ter) c.3574G>T (p.Glu1192Ter) c.3742G>T (p.Glu1248Ter) | |
| 16 | g.89282671C= | CA2241603394 | ANKRD11 | c.3871G= (p.Glu1291=) c.*3674G= (n.*3674G=) c.744+5857G= (n.744+5857G=) c.151+5857G= c.3769G= (p.Glu1257=) c.3574G= (p.Glu1192=) c.3742G= (p.Glu1248=) | |
| 16 | g.89282671C>G | CA397158813 | ANKRD11 | c.3871G>C (p.Glu1291Gln) c.*3674G>C (n.*3674G>C) c.744+5857G>C (n.744+5857G>C) c.151+5857G>C c.3769G>C (p.Glu1257Gln) c.3574G>C (p.Glu1192Gln) c.3742G>C (p.Glu1248Gln) | dbSNP gnomAD v4 |
| 16 | g.89282671C>T | CA397158814 | ANKRD11 | c.3871G>A (p.Glu1291Lys) c.*3674G>A (n.*3674G>A) c.744+5857G>A (n.744+5857G>A) c.151+5857G>A c.3769G>A (p.Glu1257Lys) c.3574G>A (p.Glu1192Lys) c.3742G>A (p.Glu1248Lys) | |
| 16 | g.89282672A>C | CA397158816 | ANKRD11 | c.3870T>G (p.His1290Gln) c.*3673T>G (n.*3673T>G) c.744+5856T>G (n.744+5856T>G) c.151+5856T>G c.3768T>G (p.His1256Gln) c.3573T>G (p.His1191Gln) c.3741T>G (p.His1247Gln) | |
| 16 | g.89282672A>G | CA497374443 | ANKRD11 | c.3870T>C (p.His1290=) c.*3673T>C (n.*3673T>C) c.744+5856T>C (n.744+5856T>C) c.151+5856T>C c.3768T>C (p.His1256=) c.3573T>C (p.His1191=) c.3741T>C (p.His1247=) | |
| 16 | g.89282672A>T | CA397158817 | ANKRD11 | c.3870T>A (p.His1290Gln) c.*3673T>A (n.*3673T>A) c.744+5856T>A (n.744+5856T>A) c.151+5856T>A c.3768T>A (p.His1256Gln) c.3573T>A (p.His1191Gln) c.3741T>A (p.His1247Gln) |