Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.53534525G>A | CA516420202 | HUWE1 | c.12606C>T (p.Asn4202=) c.12822C>T (p.Asn4274=) c.3289C>T n.135C>T c.12795C>T (p.Asn4265=) c.13071C>T (p.Asn4357=) c.13068C>T (p.Asn4356=) c.13026C>T (p.Asn4342=) c.13023C>T (p.Asn4341=) c.13020C>T (p.Asn4340=) c.12972C>T (p.Asn4324=) c.12669C>T (p.Asn4223=) c.13203C>T (p.Asn4401=) c.13200C>T (p.Asn4400=) c.13182C>T (p.Asn4394=) c.13158C>T (p.Asn4386=) c.13155C>T (p.Asn4385=) c.13152C>T (p.Asn4384=) c.13104C>T (p.Asn4368=) c.13092C>T (p.Asn4364=) c.12954C>T (p.Asn4318=) c.12801C>T (p.Asn4267=) | |
X | g.53534525G>C | CA413145805 | HUWE1 | c.12606C>G (p.Asn4202Lys) c.12822C>G (p.Asn4274Lys) c.3289C>G n.135C>G c.12795C>G (p.Asn4265Lys) c.13071C>G (p.Asn4357Lys) c.13068C>G (p.Asn4356Lys) c.13026C>G (p.Asn4342Lys) c.13023C>G (p.Asn4341Lys) c.13020C>G (p.Asn4340Lys) c.12972C>G (p.Asn4324Lys) c.12669C>G (p.Asn4223Lys) c.13203C>G (p.Asn4401Lys) c.13200C>G (p.Asn4400Lys) c.13182C>G (p.Asn4394Lys) c.13158C>G (p.Asn4386Lys) c.13155C>G (p.Asn4385Lys) c.13152C>G (p.Asn4384Lys) c.13104C>G (p.Asn4368Lys) c.13092C>G (p.Asn4364Lys) c.12954C>G (p.Asn4318Lys) c.12801C>G (p.Asn4267Lys) | |
X | g.53534525G= | CA2429869102 | HUWE1 | c.12606C= (p.Asn4202=) c.12822C= (p.Asn4274=) c.3289C= n.135C= c.12795C= (p.Asn4265=) c.13071C= (p.Asn4357=) c.13068C= (p.Asn4356=) c.13026C= (p.Asn4342=) c.13023C= (p.Asn4341=) c.13020C= (p.Asn4340=) c.12972C= (p.Asn4324=) c.12669C= (p.Asn4223=) c.13203C= (p.Asn4401=) c.13200C= (p.Asn4400=) c.13182C= (p.Asn4394=) c.13158C= (p.Asn4386=) c.13155C= (p.Asn4385=) c.13152C= (p.Asn4384=) c.13104C= (p.Asn4368=) c.13092C= (p.Asn4364=) c.12954C= (p.Asn4318=) c.12801C= (p.Asn4267=) | |
X | g.53534525G>T | CA329183499 | HUWE1 | c.12606C>A (p.Asn4202Lys) c.12822C>A (p.Asn4274Lys) c.3289C>A n.135C>A c.12795C>A (p.Asn4265Lys) c.13071C>A (p.Asn4357Lys) c.13068C>A (p.Asn4356Lys) c.13026C>A (p.Asn4342Lys) c.13023C>A (p.Asn4341Lys) c.13020C>A (p.Asn4340Lys) c.12972C>A (p.Asn4324Lys) c.12669C>A (p.Asn4223Lys) c.13203C>A (p.Asn4401Lys) c.13200C>A (p.Asn4400Lys) c.13182C>A (p.Asn4394Lys) c.13158C>A (p.Asn4386Lys) c.13155C>A (p.Asn4385Lys) c.13152C>A (p.Asn4384Lys) c.13104C>A (p.Asn4368Lys) c.13092C>A (p.Asn4364Lys) c.12954C>A (p.Asn4318Lys) c.12801C>A (p.Asn4267Lys) | dbSNP |
X | g.53534526T>A | CA413145812 | HUWE1 | c.12605A>T (p.Asn4202Ile) c.12821A>T (p.Asn4274Ile) c.3288A>T n.134A>T c.12794A>T (p.Asn4265Ile) c.13070A>T (p.Asn4357Ile) c.13067A>T (p.Asn4356Ile) c.13025A>T (p.Asn4342Ile) c.13022A>T (p.Asn4341Ile) c.13019A>T (p.Asn4340Ile) c.12971A>T (p.Asn4324Ile) c.12668A>T (p.Asn4223Ile) c.13202A>T (p.Asn4401Ile) c.13199A>T (p.Asn4400Ile) c.13181A>T (p.Asn4394Ile) c.13157A>T (p.Asn4386Ile) c.13154A>T (p.Asn4385Ile) c.13151A>T (p.Asn4384Ile) c.13103A>T (p.Asn4368Ile) c.13091A>T (p.Asn4364Ile) c.12953A>T (p.Asn4318Ile) c.12800A>T (p.Asn4267Ile) | |
X | g.53534526T>C | CA329183500 | HUWE1 | c.12605A>G (p.Asn4202Ser) c.12821A>G (p.Asn4274Ser) c.3288A>G n.134A>G c.12794A>G (p.Asn4265Ser) c.13070A>G (p.Asn4357Ser) c.13067A>G (p.Asn4356Ser) c.13025A>G (p.Asn4342Ser) c.13022A>G (p.Asn4341Ser) c.13019A>G (p.Asn4340Ser) c.12971A>G (p.Asn4324Ser) c.12668A>G (p.Asn4223Ser) c.13202A>G (p.Asn4401Ser) c.13199A>G (p.Asn4400Ser) c.13181A>G (p.Asn4394Ser) c.13157A>G (p.Asn4386Ser) c.13154A>G (p.Asn4385Ser) c.13151A>G (p.Asn4384Ser) c.13103A>G (p.Asn4368Ser) c.13091A>G (p.Asn4364Ser) c.12953A>G (p.Asn4318Ser) c.12800A>G (p.Asn4267Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.53534526T>G | CA10421143 | HUWE1 | c.12605A>C (p.Asn4202Thr) c.12821A>C (p.Asn4274Thr) c.3288A>C n.134A>C c.12794A>C (p.Asn4265Thr) c.13070A>C (p.Asn4357Thr) c.13067A>C (p.Asn4356Thr) c.13025A>C (p.Asn4342Thr) c.13022A>C (p.Asn4341Thr) c.13019A>C (p.Asn4340Thr) c.12971A>C (p.Asn4324Thr) c.12668A>C (p.Asn4223Thr) c.13202A>C (p.Asn4401Thr) c.13199A>C (p.Asn4400Thr) c.13181A>C (p.Asn4394Thr) c.13157A>C (p.Asn4386Thr) c.13154A>C (p.Asn4385Thr) c.13151A>C (p.Asn4384Thr) c.13103A>C (p.Asn4368Thr) c.13091A>C (p.Asn4364Thr) c.12953A>C (p.Asn4318Thr) c.12800A>C (p.Asn4267Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.53534526T= | CA2429869103 | HUWE1 | c.12605A= (p.Asn4202=) c.12821A= (p.Asn4274=) c.3288A= n.134A= c.12794A= (p.Asn4265=) c.13070A= (p.Asn4357=) c.13067A= (p.Asn4356=) c.13025A= (p.Asn4342=) c.13022A= (p.Asn4341=) c.13019A= (p.Asn4340=) c.12971A= (p.Asn4324=) c.12668A= (p.Asn4223=) c.13202A= (p.Asn4401=) c.13199A= (p.Asn4400=) c.13181A= (p.Asn4394=) c.13157A= (p.Asn4386=) c.13154A= (p.Asn4385=) c.13151A= (p.Asn4384=) c.13103A= (p.Asn4368=) c.13091A= (p.Asn4364=) c.12953A= (p.Asn4318=) c.12800A= (p.Asn4267=) | |
X | g.53534527T>A | CA413145814 | HUWE1 | c.12604A>T (p.Asn4202Tyr) c.12820A>T (p.Asn4274Tyr) c.3287A>T n.133A>T c.12793A>T (p.Asn4265Tyr) c.13069A>T (p.Asn4357Tyr) c.13066A>T (p.Asn4356Tyr) c.13024A>T (p.Asn4342Tyr) c.13021A>T (p.Asn4341Tyr) c.13018A>T (p.Asn4340Tyr) c.12970A>T (p.Asn4324Tyr) c.12667A>T (p.Asn4223Tyr) c.13201A>T (p.Asn4401Tyr) c.13198A>T (p.Asn4400Tyr) c.13180A>T (p.Asn4394Tyr) c.13156A>T (p.Asn4386Tyr) c.13153A>T (p.Asn4385Tyr) c.13150A>T (p.Asn4384Tyr) c.13102A>T (p.Asn4368Tyr) c.13090A>T (p.Asn4364Tyr) c.12952A>T (p.Asn4318Tyr) c.12799A>T (p.Asn4267Tyr) | |
X | g.53534527T>C | CA413145817 | HUWE1 | c.12604A>G (p.Asn4202Asp) c.12820A>G (p.Asn4274Asp) c.3287A>G n.133A>G c.12793A>G (p.Asn4265Asp) c.13069A>G (p.Asn4357Asp) c.13066A>G (p.Asn4356Asp) c.13024A>G (p.Asn4342Asp) c.13021A>G (p.Asn4341Asp) c.13018A>G (p.Asn4340Asp) c.12970A>G (p.Asn4324Asp) c.12667A>G (p.Asn4223Asp) c.13201A>G (p.Asn4401Asp) c.13198A>G (p.Asn4400Asp) c.13180A>G (p.Asn4394Asp) c.13156A>G (p.Asn4386Asp) c.13153A>G (p.Asn4385Asp) c.13150A>G (p.Asn4384Asp) c.13102A>G (p.Asn4368Asp) c.13090A>G (p.Asn4364Asp) c.12952A>G (p.Asn4318Asp) c.12799A>G (p.Asn4267Asp) | |
X | g.53534527T>G | CA413145819 | HUWE1 | c.12604A>C (p.Asn4202His) c.12820A>C (p.Asn4274His) c.3287A>C n.133A>C c.12793A>C (p.Asn4265His) c.13069A>C (p.Asn4357His) c.13066A>C (p.Asn4356His) c.13024A>C (p.Asn4342His) c.13021A>C (p.Asn4341His) c.13018A>C (p.Asn4340His) c.12970A>C (p.Asn4324His) c.12667A>C (p.Asn4223His) c.13201A>C (p.Asn4401His) c.13198A>C (p.Asn4400His) c.13180A>C (p.Asn4394His) c.13156A>C (p.Asn4386His) c.13153A>C (p.Asn4385His) c.13150A>C (p.Asn4384His) c.13102A>C (p.Asn4368His) c.13090A>C (p.Asn4364His) c.12952A>C (p.Asn4318His) c.12799A>C (p.Asn4267His) | |
X | g.53534528G>A | CA516420220 | HUWE1 | c.12603C>T (p.Ser4201=) c.12819C>T (p.Ser4273=) c.3286C>T n.132C>T c.12792C>T (p.Ser4264=) c.13068C>T (p.Ser4356=) c.13065C>T (p.Ser4355=) c.13023C>T (p.Ser4341=) c.13020C>T (p.Ser4340=) c.13017C>T (p.Ser4339=) c.12969C>T (p.Ser4323=) c.12666C>T (p.Ser4222=) c.13200C>T (p.Ser4400=) c.13197C>T (p.Ser4399=) c.13179C>T (p.Ser4393=) c.13155C>T (p.Ser4385=) c.13152C>T (p.Ser4384=) c.13149C>T (p.Ser4383=) c.13101C>T (p.Ser4367=) c.13089C>T (p.Ser4363=) c.12951C>T (p.Ser4317=) c.12798C>T (p.Ser4266=) | |
X | g.53534528G>C | CA516420223 | HUWE1 | c.12603C>G (p.Ser4201=) c.12819C>G (p.Ser4273=) c.3286C>G n.132C>G c.12792C>G (p.Ser4264=) c.13068C>G (p.Ser4356=) c.13065C>G (p.Ser4355=) c.13023C>G (p.Ser4341=) c.13020C>G (p.Ser4340=) c.13017C>G (p.Ser4339=) c.12969C>G (p.Ser4323=) c.12666C>G (p.Ser4222=) c.13200C>G (p.Ser4400=) c.13197C>G (p.Ser4399=) c.13179C>G (p.Ser4393=) c.13155C>G (p.Ser4385=) c.13152C>G (p.Ser4384=) c.13149C>G (p.Ser4383=) c.13101C>G (p.Ser4367=) c.13089C>G (p.Ser4363=) c.12951C>G (p.Ser4317=) c.12798C>G (p.Ser4266=) | |
X | g.53534528G>T | CA516420219 | HUWE1 | c.12603C>A (p.Ser4201=) c.12819C>A (p.Ser4273=) c.3286C>A n.132C>A c.12792C>A (p.Ser4264=) c.13068C>A (p.Ser4356=) c.13065C>A (p.Ser4355=) c.13023C>A (p.Ser4341=) c.13020C>A (p.Ser4340=) c.13017C>A (p.Ser4339=) c.12969C>A (p.Ser4323=) c.12666C>A (p.Ser4222=) c.13200C>A (p.Ser4400=) c.13197C>A (p.Ser4399=) c.13179C>A (p.Ser4393=) c.13155C>A (p.Ser4385=) c.13152C>A (p.Ser4384=) c.13149C>A (p.Ser4383=) c.13101C>A (p.Ser4367=) c.13089C>A (p.Ser4363=) c.12951C>A (p.Ser4317=) c.12798C>A (p.Ser4266=) | gnomAD v4 |
X | g.53534528_53534529delinsAA | CA645605901 | HUWE1 | c.12602_12603delinsTT (p.Ser4201Phe) c.12818_12819delinsTT (p.Ser4273Phe) c.3285_3286delinsTT n.131_132delinsTT c.12791_12792delinsTT (p.Ser4264Phe) c.13067_13068delinsTT (p.Ser4356Phe) c.13064_13065delinsTT (p.Ser4355Phe) c.13022_13023delinsTT (p.Ser4341Phe) c.13019_13020delinsTT (p.Ser4340Phe) c.13016_13017delinsTT (p.Ser4339Phe) c.12968_12969delinsTT (p.Ser4323Phe) c.12665_12666delinsTT (p.Ser4222Phe) c.13199_13200delinsTT (p.Ser4400Phe) c.13196_13197delinsTT (p.Ser4399Phe) c.13178_13179delinsTT (p.Ser4393Phe) c.13154_13155delinsTT (p.Ser4385Phe) c.13151_13152delinsTT (p.Ser4384Phe) c.13148_13149delinsTT (p.Ser4383Phe) c.13100_13101delinsTT (p.Ser4367Phe) c.13088_13089delinsTT (p.Ser4363Phe) c.12950_12951delinsTT (p.Ser4317Phe) c.12797_12798delinsTT (p.Ser4266Phe) | COSMIC COSMIC |
X | g.53534529G>A | CA413145822 | HUWE1 | c.12602C>T (p.Ser4201Phe) c.12818C>T (p.Ser4273Phe) c.3285C>T n.131C>T c.12791C>T (p.Ser4264Phe) c.13067C>T (p.Ser4356Phe) c.13064C>T (p.Ser4355Phe) c.13022C>T (p.Ser4341Phe) c.13019C>T (p.Ser4340Phe) c.13016C>T (p.Ser4339Phe) c.12968C>T (p.Ser4323Phe) c.12665C>T (p.Ser4222Phe) c.13199C>T (p.Ser4400Phe) c.13196C>T (p.Ser4399Phe) c.13178C>T (p.Ser4393Phe) c.13154C>T (p.Ser4385Phe) c.13151C>T (p.Ser4384Phe) c.13148C>T (p.Ser4383Phe) c.13100C>T (p.Ser4367Phe) c.13088C>T (p.Ser4363Phe) c.12950C>T (p.Ser4317Phe) c.12797C>T (p.Ser4266Phe) | COSMIC COSMIC |
X | g.53534529G>C | CA413145824 | HUWE1 | c.12602C>G (p.Ser4201Cys) c.12818C>G (p.Ser4273Cys) c.3285C>G n.131C>G c.12791C>G (p.Ser4264Cys) c.13067C>G (p.Ser4356Cys) c.13064C>G (p.Ser4355Cys) c.13022C>G (p.Ser4341Cys) c.13019C>G (p.Ser4340Cys) c.13016C>G (p.Ser4339Cys) c.12968C>G (p.Ser4323Cys) c.12665C>G (p.Ser4222Cys) c.13199C>G (p.Ser4400Cys) c.13196C>G (p.Ser4399Cys) c.13178C>G (p.Ser4393Cys) c.13154C>G (p.Ser4385Cys) c.13151C>G (p.Ser4384Cys) c.13148C>G (p.Ser4383Cys) c.13100C>G (p.Ser4367Cys) c.13088C>G (p.Ser4363Cys) c.12950C>G (p.Ser4317Cys) c.12797C>G (p.Ser4266Cys) | |
X | g.53534529G>T | CA413145826 | HUWE1 | c.12602C>A (p.Ser4201Tyr) c.12818C>A (p.Ser4273Tyr) c.3285C>A n.131C>A c.12791C>A (p.Ser4264Tyr) c.13067C>A (p.Ser4356Tyr) c.13064C>A (p.Ser4355Tyr) c.13022C>A (p.Ser4341Tyr) c.13019C>A (p.Ser4340Tyr) c.13016C>A (p.Ser4339Tyr) c.12968C>A (p.Ser4323Tyr) c.12665C>A (p.Ser4222Tyr) c.13199C>A (p.Ser4400Tyr) c.13196C>A (p.Ser4399Tyr) c.13178C>A (p.Ser4393Tyr) c.13154C>A (p.Ser4385Tyr) c.13151C>A (p.Ser4384Tyr) c.13148C>A (p.Ser4383Tyr) c.13100C>A (p.Ser4367Tyr) c.13088C>A (p.Ser4363Tyr) c.12950C>A (p.Ser4317Tyr) c.12797C>A (p.Ser4266Tyr) | gnomAD v4 |
X | g.53534530A>C | CA413145828 | HUWE1 | c.12601T>G (p.Ser4201Ala) c.12817T>G (p.Ser4273Ala) c.3284T>G n.130T>G c.12790T>G (p.Ser4264Ala) c.13066T>G (p.Ser4356Ala) c.13063T>G (p.Ser4355Ala) c.13021T>G (p.Ser4341Ala) c.13018T>G (p.Ser4340Ala) c.13015T>G (p.Ser4339Ala) c.12967T>G (p.Ser4323Ala) c.12664T>G (p.Ser4222Ala) c.13198T>G (p.Ser4400Ala) c.13195T>G (p.Ser4399Ala) c.13177T>G (p.Ser4393Ala) c.13153T>G (p.Ser4385Ala) c.13150T>G (p.Ser4384Ala) c.13147T>G (p.Ser4383Ala) c.13099T>G (p.Ser4367Ala) c.13087T>G (p.Ser4363Ala) c.12949T>G (p.Ser4317Ala) c.12796T>G (p.Ser4266Ala) | |
X | g.53534530A>G | CA413145834 | HUWE1 | c.12601T>C (p.Ser4201Pro) c.12817T>C (p.Ser4273Pro) c.3284T>C n.130T>C c.12790T>C (p.Ser4264Pro) c.13066T>C (p.Ser4356Pro) c.13063T>C (p.Ser4355Pro) c.13021T>C (p.Ser4341Pro) c.13018T>C (p.Ser4340Pro) c.13015T>C (p.Ser4339Pro) c.12967T>C (p.Ser4323Pro) c.12664T>C (p.Ser4222Pro) c.13198T>C (p.Ser4400Pro) c.13195T>C (p.Ser4399Pro) c.13177T>C (p.Ser4393Pro) c.13153T>C (p.Ser4385Pro) c.13150T>C (p.Ser4384Pro) c.13147T>C (p.Ser4383Pro) c.13099T>C (p.Ser4367Pro) c.13087T>C (p.Ser4363Pro) c.12949T>C (p.Ser4317Pro) c.12796T>C (p.Ser4266Pro) | |
X | g.53534530A>T | CA413145829 | HUWE1 | c.12601T>A (p.Ser4201Thr) c.12817T>A (p.Ser4273Thr) c.3284T>A n.130T>A c.12790T>A (p.Ser4264Thr) c.13066T>A (p.Ser4356Thr) c.13063T>A (p.Ser4355Thr) c.13021T>A (p.Ser4341Thr) c.13018T>A (p.Ser4340Thr) c.13015T>A (p.Ser4339Thr) c.12967T>A (p.Ser4323Thr) c.12664T>A (p.Ser4222Thr) c.13198T>A (p.Ser4400Thr) c.13195T>A (p.Ser4399Thr) c.13177T>A (p.Ser4393Thr) c.13153T>A (p.Ser4385Thr) c.13150T>A (p.Ser4384Thr) c.13147T>A (p.Ser4383Thr) c.13099T>A (p.Ser4367Thr) c.13087T>A (p.Ser4363Thr) c.12949T>A (p.Ser4317Thr) c.12796T>A (p.Ser4266Thr) | |
X | g.53534531C>A | CA413145838 | HUWE1 | c.12600G>T (p.Gln4200His) c.12816G>T (p.Gln4272His) c.3283G>T n.129G>T c.12789G>T (p.Gln4263His) c.13065G>T (p.Gln4355His) c.13062G>T (p.Gln4354His) c.13020G>T (p.Gln4340His) c.13017G>T (p.Gln4339His) c.13014G>T (p.Gln4338His) c.12966G>T (p.Gln4322His) c.12663G>T (p.Gln4221His) c.13197G>T (p.Gln4399His) c.13194G>T (p.Gln4398His) c.13176G>T (p.Gln4392His) c.13152G>T (p.Gln4384His) c.13149G>T (p.Gln4383His) c.13146G>T (p.Gln4382His) c.13098G>T (p.Gln4366His) c.13086G>T (p.Gln4362His) c.12948G>T (p.Gln4316His) c.12795G>T (p.Gln4265His) | |
X | g.53534531C>G | CA413145839 | HUWE1 | c.12600G>C (p.Gln4200His) c.12816G>C (p.Gln4272His) c.3283G>C n.129G>C c.12789G>C (p.Gln4263His) c.13065G>C (p.Gln4355His) c.13062G>C (p.Gln4354His) c.13020G>C (p.Gln4340His) c.13017G>C (p.Gln4339His) c.13014G>C (p.Gln4338His) c.12966G>C (p.Gln4322His) c.12663G>C (p.Gln4221His) c.13197G>C (p.Gln4399His) c.13194G>C (p.Gln4398His) c.13176G>C (p.Gln4392His) c.13152G>C (p.Gln4384His) c.13149G>C (p.Gln4383His) c.13146G>C (p.Gln4382His) c.13098G>C (p.Gln4366His) c.13086G>C (p.Gln4362His) c.12948G>C (p.Gln4316His) c.12795G>C (p.Gln4265His) | dbSNP gnomAD v4 |
X | g.53534531C>T | CA516420231 | HUWE1 | c.12600G>A (p.Gln4200=) c.12816G>A (p.Gln4272=) c.3283G>A n.129G>A c.12789G>A (p.Gln4263=) c.13065G>A (p.Gln4355=) c.13062G>A (p.Gln4354=) c.13020G>A (p.Gln4340=) c.13017G>A (p.Gln4339=) c.13014G>A (p.Gln4338=) c.12966G>A (p.Gln4322=) c.12663G>A (p.Gln4221=) c.13197G>A (p.Gln4399=) c.13194G>A (p.Gln4398=) c.13176G>A (p.Gln4392=) c.13152G>A (p.Gln4384=) c.13149G>A (p.Gln4383=) c.13146G>A (p.Gln4382=) c.13098G>A (p.Gln4366=) c.13086G>A (p.Gln4362=) c.12948G>A (p.Gln4316=) c.12795G>A (p.Gln4265=) | |
X | g.53534532T>A | CA413145842 | HUWE1 | c.12599A>T (p.Gln4200Leu) c.12815A>T (p.Gln4272Leu) c.3282A>T n.128A>T c.12788A>T (p.Gln4263Leu) c.13064A>T (p.Gln4355Leu) c.13061A>T (p.Gln4354Leu) c.13019A>T (p.Gln4340Leu) c.13016A>T (p.Gln4339Leu) c.13013A>T (p.Gln4338Leu) c.12965A>T (p.Gln4322Leu) c.12662A>T (p.Gln4221Leu) c.13196A>T (p.Gln4399Leu) c.13193A>T (p.Gln4398Leu) c.13175A>T (p.Gln4392Leu) c.13151A>T (p.Gln4384Leu) c.13148A>T (p.Gln4383Leu) c.13145A>T (p.Gln4382Leu) c.13097A>T (p.Gln4366Leu) c.13085A>T (p.Gln4362Leu) c.12947A>T (p.Gln4316Leu) c.12794A>T (p.Gln4265Leu) | |
X | g.53534532T>C | CA413145844 | HUWE1 | c.12599A>G (p.Gln4200Arg) c.12815A>G (p.Gln4272Arg) c.3282A>G n.128A>G c.12788A>G (p.Gln4263Arg) c.13064A>G (p.Gln4355Arg) c.13061A>G (p.Gln4354Arg) c.13019A>G (p.Gln4340Arg) c.13016A>G (p.Gln4339Arg) c.13013A>G (p.Gln4338Arg) c.12965A>G (p.Gln4322Arg) c.12662A>G (p.Gln4221Arg) c.13196A>G (p.Gln4399Arg) c.13193A>G (p.Gln4398Arg) c.13175A>G (p.Gln4392Arg) c.13151A>G (p.Gln4384Arg) c.13148A>G (p.Gln4383Arg) c.13145A>G (p.Gln4382Arg) c.13097A>G (p.Gln4366Arg) c.13085A>G (p.Gln4362Arg) c.12947A>G (p.Gln4316Arg) c.12794A>G (p.Gln4265Arg) | |
X | g.53534532T>G | CA413145846 | HUWE1 | c.12599A>C (p.Gln4200Pro) c.12815A>C (p.Gln4272Pro) c.3282A>C n.128A>C c.12788A>C (p.Gln4263Pro) c.13064A>C (p.Gln4355Pro) c.13061A>C (p.Gln4354Pro) c.13019A>C (p.Gln4340Pro) c.13016A>C (p.Gln4339Pro) c.13013A>C (p.Gln4338Pro) c.12965A>C (p.Gln4322Pro) c.12662A>C (p.Gln4221Pro) c.13196A>C (p.Gln4399Pro) c.13193A>C (p.Gln4398Pro) c.13175A>C (p.Gln4392Pro) c.13151A>C (p.Gln4384Pro) c.13148A>C (p.Gln4383Pro) c.13145A>C (p.Gln4382Pro) c.13097A>C (p.Gln4366Pro) c.13085A>C (p.Gln4362Pro) c.12947A>C (p.Gln4316Pro) c.12794A>C (p.Gln4265Pro) | |
X | g.53534533G>A | CA413145850 | HUWE1 | c.12598C>T (p.Gln4200Ter) c.12814C>T (p.Gln4272Ter) c.3281C>T n.127C>T c.12787C>T (p.Gln4263Ter) c.13063C>T (p.Gln4355Ter) c.13060C>T (p.Gln4354Ter) c.13018C>T (p.Gln4340Ter) c.13015C>T (p.Gln4339Ter) c.13012C>T (p.Gln4338Ter) c.12964C>T (p.Gln4322Ter) c.12661C>T (p.Gln4221Ter) c.13195C>T (p.Gln4399Ter) c.13192C>T (p.Gln4398Ter) c.13174C>T (p.Gln4392Ter) c.13150C>T (p.Gln4384Ter) c.13147C>T (p.Gln4383Ter) c.13144C>T (p.Gln4382Ter) c.13096C>T (p.Gln4366Ter) c.13084C>T (p.Gln4362Ter) c.12946C>T (p.Gln4316Ter) c.12793C>T (p.Gln4265Ter) | |
X | g.53534533G>C | CA413145851 | HUWE1 | c.12598C>G (p.Gln4200Glu) c.12814C>G (p.Gln4272Glu) c.3281C>G n.127C>G c.12787C>G (p.Gln4263Glu) c.13063C>G (p.Gln4355Glu) c.13060C>G (p.Gln4354Glu) c.13018C>G (p.Gln4340Glu) c.13015C>G (p.Gln4339Glu) c.13012C>G (p.Gln4338Glu) c.12964C>G (p.Gln4322Glu) c.12661C>G (p.Gln4221Glu) c.13195C>G (p.Gln4399Glu) c.13192C>G (p.Gln4398Glu) c.13174C>G (p.Gln4392Glu) c.13150C>G (p.Gln4384Glu) c.13147C>G (p.Gln4383Glu) c.13144C>G (p.Gln4382Glu) c.13096C>G (p.Gln4366Glu) c.13084C>G (p.Gln4362Glu) c.12946C>G (p.Gln4316Glu) c.12793C>G (p.Gln4265Glu) | |
X | g.53534533G>T | CA413145849 | HUWE1 | c.12598C>A (p.Gln4200Lys) c.12814C>A (p.Gln4272Lys) c.3281C>A n.127C>A c.12787C>A (p.Gln4263Lys) c.13063C>A (p.Gln4355Lys) c.13060C>A (p.Gln4354Lys) c.13018C>A (p.Gln4340Lys) c.13015C>A (p.Gln4339Lys) c.13012C>A (p.Gln4338Lys) c.12964C>A (p.Gln4322Lys) c.12661C>A (p.Gln4221Lys) c.13195C>A (p.Gln4399Lys) c.13192C>A (p.Gln4398Lys) c.13174C>A (p.Gln4392Lys) c.13150C>A (p.Gln4384Lys) c.13147C>A (p.Gln4383Lys) c.13144C>A (p.Gln4382Lys) c.13096C>A (p.Gln4366Lys) c.13084C>A (p.Gln4362Lys) c.12946C>A (p.Gln4316Lys) c.12793C>A (p.Gln4265Lys) | |
X | g.53534534del | CA2557723699 | HUWE1 | c.12598del (p.Gln4200SerfsTer?) c.12814del (p.Gln4272SerfsTer?) c.3281del n.127del c.12787del (p.Gln4263SerfsTer?) c.13063del (p.Gln4355SerfsTer?) c.13060del (p.Gln4354SerfsTer?) c.13018del (p.Gln4340SerfsTer?) c.13015del (p.Gln4339SerfsTer?) c.13012del (p.Gln4338SerfsTer?) c.12964del (p.Gln4322SerfsTer?) c.12661del (p.Gln4221SerfsTer?) c.13195del (p.Gln4399SerfsTer?) c.13192del (p.Gln4398SerfsTer?) c.13174del (p.Gln4392SerfsTer?) c.13150del (p.Gln4384SerfsTer?) c.13147del (p.Gln4383SerfsTer?) c.13144del (p.Gln4382SerfsTer?) c.13096del (p.Gln4366SerfsTer?) c.13084del (p.Gln4362SerfsTer?) c.12946del (p.Gln4316SerfsTer?) c.12793del (p.Gln4265SerfsTer?) | |
X | g.53534534G>A | CA516420245 | HUWE1 | c.12597C>T (p.Tyr4199=) c.12813C>T (p.Tyr4271=) c.3280C>T n.126C>T c.12786C>T (p.Tyr4262=) c.13062C>T (p.Tyr4354=) c.13059C>T (p.Tyr4353=) c.13017C>T (p.Tyr4339=) c.13014C>T (p.Tyr4338=) c.13011C>T (p.Tyr4337=) c.12963C>T (p.Tyr4321=) c.12660C>T (p.Tyr4220=) c.13194C>T (p.Tyr4398=) c.13191C>T (p.Tyr4397=) c.13173C>T (p.Tyr4391=) c.13149C>T (p.Tyr4383=) c.13146C>T (p.Tyr4382=) c.13143C>T (p.Tyr4381=) c.13095C>T (p.Tyr4365=) c.13083C>T (p.Tyr4361=) c.12945C>T (p.Tyr4315=) c.12792C>T (p.Tyr4264=) | gnomAD v4 |
X | g.53534534G>C | CA413145855 | HUWE1 | c.12597C>G (p.Tyr4199Ter) c.12813C>G (p.Tyr4271Ter) c.3280C>G n.126C>G c.12786C>G (p.Tyr4262Ter) c.13062C>G (p.Tyr4354Ter) c.13059C>G (p.Tyr4353Ter) c.13017C>G (p.Tyr4339Ter) c.13014C>G (p.Tyr4338Ter) c.13011C>G (p.Tyr4337Ter) c.12963C>G (p.Tyr4321Ter) c.12660C>G (p.Tyr4220Ter) c.13194C>G (p.Tyr4398Ter) c.13191C>G (p.Tyr4397Ter) c.13173C>G (p.Tyr4391Ter) c.13149C>G (p.Tyr4383Ter) c.13146C>G (p.Tyr4382Ter) c.13143C>G (p.Tyr4381Ter) c.13095C>G (p.Tyr4365Ter) c.13083C>G (p.Tyr4361Ter) c.12945C>G (p.Tyr4315Ter) c.12792C>G (p.Tyr4264Ter) | |
X | g.53534534G>T | CA413145854 | HUWE1 | c.12597C>A (p.Tyr4199Ter) c.12813C>A (p.Tyr4271Ter) c.3280C>A n.126C>A c.12786C>A (p.Tyr4262Ter) c.13062C>A (p.Tyr4354Ter) c.13059C>A (p.Tyr4353Ter) c.13017C>A (p.Tyr4339Ter) c.13014C>A (p.Tyr4338Ter) c.13011C>A (p.Tyr4337Ter) c.12963C>A (p.Tyr4321Ter) c.12660C>A (p.Tyr4220Ter) c.13194C>A (p.Tyr4398Ter) c.13191C>A (p.Tyr4397Ter) c.13173C>A (p.Tyr4391Ter) c.13149C>A (p.Tyr4383Ter) c.13146C>A (p.Tyr4382Ter) c.13143C>A (p.Tyr4381Ter) c.13095C>A (p.Tyr4365Ter) c.13083C>A (p.Tyr4361Ter) c.12945C>A (p.Tyr4315Ter) c.12792C>A (p.Tyr4264Ter) | |
X | g.53534535T>A | CA413145859 | HUWE1 | c.12596A>T (p.Tyr4199Phe) c.12812A>T (p.Tyr4271Phe) c.3279A>T n.125A>T c.12785A>T (p.Tyr4262Phe) c.13061A>T (p.Tyr4354Phe) c.13058A>T (p.Tyr4353Phe) c.13016A>T (p.Tyr4339Phe) c.13013A>T (p.Tyr4338Phe) c.13010A>T (p.Tyr4337Phe) c.12962A>T (p.Tyr4321Phe) c.12659A>T (p.Tyr4220Phe) c.13193A>T (p.Tyr4398Phe) c.13190A>T (p.Tyr4397Phe) c.13172A>T (p.Tyr4391Phe) c.13148A>T (p.Tyr4383Phe) c.13145A>T (p.Tyr4382Phe) c.13142A>T (p.Tyr4381Phe) c.13094A>T (p.Tyr4365Phe) c.13082A>T (p.Tyr4361Phe) c.12944A>T (p.Tyr4315Phe) c.12791A>T (p.Tyr4264Phe) | |
X | g.53534535T>C | CA413145860 | HUWE1 | c.12596A>G (p.Tyr4199Cys) c.12812A>G (p.Tyr4271Cys) c.3279A>G n.125A>G c.12785A>G (p.Tyr4262Cys) c.13061A>G (p.Tyr4354Cys) c.13058A>G (p.Tyr4353Cys) c.13016A>G (p.Tyr4339Cys) c.13013A>G (p.Tyr4338Cys) c.13010A>G (p.Tyr4337Cys) c.12962A>G (p.Tyr4321Cys) c.12659A>G (p.Tyr4220Cys) c.13193A>G (p.Tyr4398Cys) c.13190A>G (p.Tyr4397Cys) c.13172A>G (p.Tyr4391Cys) c.13148A>G (p.Tyr4383Cys) c.13145A>G (p.Tyr4382Cys) c.13142A>G (p.Tyr4381Cys) c.13094A>G (p.Tyr4365Cys) c.13082A>G (p.Tyr4361Cys) c.12944A>G (p.Tyr4315Cys) c.12791A>G (p.Tyr4264Cys) | COSMIC COSMIC |
X | g.53534535T>G | CA413145862 | HUWE1 | c.12596A>C (p.Tyr4199Ser) c.12812A>C (p.Tyr4271Ser) c.3279A>C n.125A>C c.12785A>C (p.Tyr4262Ser) c.13061A>C (p.Tyr4354Ser) c.13058A>C (p.Tyr4353Ser) c.13016A>C (p.Tyr4339Ser) c.13013A>C (p.Tyr4338Ser) c.13010A>C (p.Tyr4337Ser) c.12962A>C (p.Tyr4321Ser) c.12659A>C (p.Tyr4220Ser) c.13193A>C (p.Tyr4398Ser) c.13190A>C (p.Tyr4397Ser) c.13172A>C (p.Tyr4391Ser) c.13148A>C (p.Tyr4383Ser) c.13145A>C (p.Tyr4382Ser) c.13142A>C (p.Tyr4381Ser) c.13094A>C (p.Tyr4365Ser) c.13082A>C (p.Tyr4361Ser) c.12944A>C (p.Tyr4315Ser) c.12791A>C (p.Tyr4264Ser) | |
X | g.53534536A>C | CA413145866 | HUWE1 | c.12595T>G (p.Tyr4199Asp) c.12811T>G (p.Tyr4271Asp) c.3278T>G n.124T>G c.12784T>G (p.Tyr4262Asp) c.13060T>G (p.Tyr4354Asp) c.13057T>G (p.Tyr4353Asp) c.13015T>G (p.Tyr4339Asp) c.13012T>G (p.Tyr4338Asp) c.13009T>G (p.Tyr4337Asp) c.12961T>G (p.Tyr4321Asp) c.12658T>G (p.Tyr4220Asp) c.13192T>G (p.Tyr4398Asp) c.13189T>G (p.Tyr4397Asp) c.13171T>G (p.Tyr4391Asp) c.13147T>G (p.Tyr4383Asp) c.13144T>G (p.Tyr4382Asp) c.13141T>G (p.Tyr4381Asp) c.13093T>G (p.Tyr4365Asp) c.13081T>G (p.Tyr4361Asp) c.12943T>G (p.Tyr4315Asp) c.12790T>G (p.Tyr4264Asp) | |
X | g.53534536A>G | CA413145868 | HUWE1 | c.12595T>C (p.Tyr4199His) c.12811T>C (p.Tyr4271His) c.3278T>C n.124T>C c.12784T>C (p.Tyr4262His) c.13060T>C (p.Tyr4354His) c.13057T>C (p.Tyr4353His) c.13015T>C (p.Tyr4339His) c.13012T>C (p.Tyr4338His) c.13009T>C (p.Tyr4337His) c.12961T>C (p.Tyr4321His) c.12658T>C (p.Tyr4220His) c.13192T>C (p.Tyr4398His) c.13189T>C (p.Tyr4397His) c.13171T>C (p.Tyr4391His) c.13147T>C (p.Tyr4383His) c.13144T>C (p.Tyr4382His) c.13141T>C (p.Tyr4381His) c.13093T>C (p.Tyr4365His) c.13081T>C (p.Tyr4361His) c.12943T>C (p.Tyr4315His) c.12790T>C (p.Tyr4264His) | COSMIC COSMIC |
X | g.53534536A>T | CA413145870 | HUWE1 | c.12595T>A (p.Tyr4199Asn) c.12811T>A (p.Tyr4271Asn) c.3278T>A n.124T>A c.12784T>A (p.Tyr4262Asn) c.13060T>A (p.Tyr4354Asn) c.13057T>A (p.Tyr4353Asn) c.13015T>A (p.Tyr4339Asn) c.13012T>A (p.Tyr4338Asn) c.13009T>A (p.Tyr4337Asn) c.12961T>A (p.Tyr4321Asn) c.12658T>A (p.Tyr4220Asn) c.13192T>A (p.Tyr4398Asn) c.13189T>A (p.Tyr4397Asn) c.13171T>A (p.Tyr4391Asn) c.13147T>A (p.Tyr4383Asn) c.13144T>A (p.Tyr4382Asn) c.13141T>A (p.Tyr4381Asn) c.13093T>A (p.Tyr4365Asn) c.13081T>A (p.Tyr4361Asn) c.12943T>A (p.Tyr4315Asn) c.12790T>A (p.Tyr4264Asn) | |
X | g.53534537C>A | CA413145871 | HUWE1 | c.12594G>T (p.Lys4198Asn) c.12810G>T (p.Lys4270Asn) c.3277G>T n.123G>T c.12783G>T (p.Lys4261Asn) c.13059G>T (p.Lys4353Asn) c.13056G>T (p.Lys4352Asn) c.13014G>T (p.Lys4338Asn) c.13011G>T (p.Lys4337Asn) c.13008G>T (p.Lys4336Asn) c.12960G>T (p.Lys4320Asn) c.12657G>T (p.Lys4219Asn) c.13191G>T (p.Lys4397Asn) c.13188G>T (p.Lys4396Asn) c.13170G>T (p.Lys4390Asn) c.13146G>T (p.Lys4382Asn) c.13143G>T (p.Lys4381Asn) c.13140G>T (p.Lys4380Asn) c.13092G>T (p.Lys4364Asn) c.13080G>T (p.Lys4360Asn) c.12942G>T (p.Lys4314Asn) c.12789G>T (p.Lys4263Asn) | |
X | g.53534537C= | CA2429869104 | HUWE1 | c.12594G= (p.Lys4198=) c.12810G= (p.Lys4270=) c.3277G= n.123G= c.12783G= (p.Lys4261=) c.13059G= (p.Lys4353=) c.13056G= (p.Lys4352=) c.13014G= (p.Lys4338=) c.13011G= (p.Lys4337=) c.13008G= (p.Lys4336=) c.12960G= (p.Lys4320=) c.12657G= (p.Lys4219=) c.13191G= (p.Lys4397=) c.13188G= (p.Lys4396=) c.13170G= (p.Lys4390=) c.13146G= (p.Lys4382=) c.13143G= (p.Lys4381=) c.13140G= (p.Lys4380=) c.13092G= (p.Lys4364=) c.13080G= (p.Lys4360=) c.12942G= (p.Lys4314=) c.12789G= (p.Lys4263=) | |
X | g.53534537C>G | CA413145873 | HUWE1 | c.12594G>C (p.Lys4198Asn) c.12810G>C (p.Lys4270Asn) c.3277G>C n.123G>C c.12783G>C (p.Lys4261Asn) c.13059G>C (p.Lys4353Asn) c.13056G>C (p.Lys4352Asn) c.13014G>C (p.Lys4338Asn) c.13011G>C (p.Lys4337Asn) c.13008G>C (p.Lys4336Asn) c.12960G>C (p.Lys4320Asn) c.12657G>C (p.Lys4219Asn) c.13191G>C (p.Lys4397Asn) c.13188G>C (p.Lys4396Asn) c.13170G>C (p.Lys4390Asn) c.13146G>C (p.Lys4382Asn) c.13143G>C (p.Lys4381Asn) c.13140G>C (p.Lys4380Asn) c.13092G>C (p.Lys4364Asn) c.13080G>C (p.Lys4360Asn) c.12942G>C (p.Lys4314Asn) c.12789G>C (p.Lys4263Asn) | |
X | g.53534537C>T | CA516420268 | HUWE1 | c.12594G>A (p.Lys4198=) c.12810G>A (p.Lys4270=) c.3277G>A n.123G>A c.12783G>A (p.Lys4261=) c.13059G>A (p.Lys4353=) c.13056G>A (p.Lys4352=) c.13014G>A (p.Lys4338=) c.13011G>A (p.Lys4337=) c.13008G>A (p.Lys4336=) c.12960G>A (p.Lys4320=) c.12657G>A (p.Lys4219=) c.13191G>A (p.Lys4397=) c.13188G>A (p.Lys4396=) c.13170G>A (p.Lys4390=) c.13146G>A (p.Lys4382=) c.13143G>A (p.Lys4381=) c.13140G>A (p.Lys4380=) c.13092G>A (p.Lys4364=) c.13080G>A (p.Lys4360=) c.12942G>A (p.Lys4314=) c.12789G>A (p.Lys4263=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53534538T>A | CA413145876 | HUWE1 | c.12593A>T (p.Lys4198Met) c.12809A>T (p.Lys4270Met) c.3276A>T n.122A>T c.12782A>T (p.Lys4261Met) c.13058A>T (p.Lys4353Met) c.13055A>T (p.Lys4352Met) c.13013A>T (p.Lys4338Met) c.13010A>T (p.Lys4337Met) c.13007A>T (p.Lys4336Met) c.12959A>T (p.Lys4320Met) c.12656A>T (p.Lys4219Met) c.13190A>T (p.Lys4397Met) c.13187A>T (p.Lys4396Met) c.13169A>T (p.Lys4390Met) c.13145A>T (p.Lys4382Met) c.13142A>T (p.Lys4381Met) c.13139A>T (p.Lys4380Met) c.13091A>T (p.Lys4364Met) c.13079A>T (p.Lys4360Met) c.12941A>T (p.Lys4314Met) c.12788A>T (p.Lys4263Met) | |
X | g.53534538T>C | CA413145879 | HUWE1 | c.12593A>G (p.Lys4198Arg) c.12809A>G (p.Lys4270Arg) c.3276A>G n.122A>G c.12782A>G (p.Lys4261Arg) c.13058A>G (p.Lys4353Arg) c.13055A>G (p.Lys4352Arg) c.13013A>G (p.Lys4338Arg) c.13010A>G (p.Lys4337Arg) c.13007A>G (p.Lys4336Arg) c.12959A>G (p.Lys4320Arg) c.12656A>G (p.Lys4219Arg) c.13190A>G (p.Lys4397Arg) c.13187A>G (p.Lys4396Arg) c.13169A>G (p.Lys4390Arg) c.13145A>G (p.Lys4382Arg) c.13142A>G (p.Lys4381Arg) c.13139A>G (p.Lys4380Arg) c.13091A>G (p.Lys4364Arg) c.13079A>G (p.Lys4360Arg) c.12941A>G (p.Lys4314Arg) c.12788A>G (p.Lys4263Arg) | |
X | g.53534538T>G | CA413145881 | HUWE1 | c.12593A>C (p.Lys4198Thr) c.12809A>C (p.Lys4270Thr) c.3276A>C n.122A>C c.12782A>C (p.Lys4261Thr) c.13058A>C (p.Lys4353Thr) c.13055A>C (p.Lys4352Thr) c.13013A>C (p.Lys4338Thr) c.13010A>C (p.Lys4337Thr) c.13007A>C (p.Lys4336Thr) c.12959A>C (p.Lys4320Thr) c.12656A>C (p.Lys4219Thr) c.13190A>C (p.Lys4397Thr) c.13187A>C (p.Lys4396Thr) c.13169A>C (p.Lys4390Thr) c.13145A>C (p.Lys4382Thr) c.13142A>C (p.Lys4381Thr) c.13139A>C (p.Lys4380Thr) c.13091A>C (p.Lys4364Thr) c.13079A>C (p.Lys4360Thr) c.12941A>C (p.Lys4314Thr) c.12788A>C (p.Lys4263Thr) | |
X | g.53534539T>A | CA413145889 | HUWE1 | c.12592A>T (p.Lys4198Ter) c.12808A>T (p.Lys4270Ter) c.3275A>T n.121A>T c.12781A>T (p.Lys4261Ter) c.13057A>T (p.Lys4353Ter) c.13054A>T (p.Lys4352Ter) c.13012A>T (p.Lys4338Ter) c.13009A>T (p.Lys4337Ter) c.13006A>T (p.Lys4336Ter) c.12958A>T (p.Lys4320Ter) c.12655A>T (p.Lys4219Ter) c.13189A>T (p.Lys4397Ter) c.13186A>T (p.Lys4396Ter) c.13168A>T (p.Lys4390Ter) c.13144A>T (p.Lys4382Ter) c.13141A>T (p.Lys4381Ter) c.13138A>T (p.Lys4380Ter) c.13090A>T (p.Lys4364Ter) c.13078A>T (p.Lys4360Ter) c.12940A>T (p.Lys4314Ter) c.12787A>T (p.Lys4263Ter) | |
X | g.53534539T>C | CA413145888 | HUWE1 | c.12592A>G (p.Lys4198Glu) c.12808A>G (p.Lys4270Glu) c.3275A>G n.121A>G c.12781A>G (p.Lys4261Glu) c.13057A>G (p.Lys4353Glu) c.13054A>G (p.Lys4352Glu) c.13012A>G (p.Lys4338Glu) c.13009A>G (p.Lys4337Glu) c.13006A>G (p.Lys4336Glu) c.12958A>G (p.Lys4320Glu) c.12655A>G (p.Lys4219Glu) c.13189A>G (p.Lys4397Glu) c.13186A>G (p.Lys4396Glu) c.13168A>G (p.Lys4390Glu) c.13144A>G (p.Lys4382Glu) c.13141A>G (p.Lys4381Glu) c.13138A>G (p.Lys4380Glu) c.13090A>G (p.Lys4364Glu) c.13078A>G (p.Lys4360Glu) c.12940A>G (p.Lys4314Glu) c.12787A>G (p.Lys4263Glu) | |
X | g.53534539T>G | CA413145886 | HUWE1 | c.12592A>C (p.Lys4198Gln) c.12808A>C (p.Lys4270Gln) c.3275A>C n.121A>C c.12781A>C (p.Lys4261Gln) c.13057A>C (p.Lys4353Gln) c.13054A>C (p.Lys4352Gln) c.13012A>C (p.Lys4338Gln) c.13009A>C (p.Lys4337Gln) c.13006A>C (p.Lys4336Gln) c.12958A>C (p.Lys4320Gln) c.12655A>C (p.Lys4219Gln) c.13189A>C (p.Lys4397Gln) c.13186A>C (p.Lys4396Gln) c.13168A>C (p.Lys4390Gln) c.13144A>C (p.Lys4382Gln) c.13141A>C (p.Lys4381Gln) c.13138A>C (p.Lys4380Gln) c.13090A>C (p.Lys4364Gln) c.13078A>C (p.Lys4360Gln) c.12940A>C (p.Lys4314Gln) c.12787A>C (p.Lys4263Gln) | |
X | g.53534540G>A | CA516420285 | HUWE1 | c.12591C>T (p.His4197=) c.12807C>T (p.His4269=) c.3274C>T n.120C>T c.12780C>T (p.His4260=) c.13056C>T (p.His4352=) c.13053C>T (p.His4351=) c.13011C>T (p.His4337=) c.13008C>T (p.His4336=) c.13005C>T (p.His4335=) c.12957C>T (p.His4319=) c.12654C>T (p.His4218=) c.13188C>T (p.His4396=) c.13185C>T (p.His4395=) c.13167C>T (p.His4389=) c.13143C>T (p.His4381=) c.13140C>T (p.His4380=) c.13137C>T (p.His4379=) c.13089C>T (p.His4363=) c.13077C>T (p.His4359=) c.12939C>T (p.His4313=) c.12786C>T (p.His4262=) | gnomAD v4 |
X | g.53534540G>C | CA413145895 | HUWE1 | c.12591C>G (p.His4197Gln) c.12807C>G (p.His4269Gln) c.3274C>G n.120C>G c.12780C>G (p.His4260Gln) c.13056C>G (p.His4352Gln) c.13053C>G (p.His4351Gln) c.13011C>G (p.His4337Gln) c.13008C>G (p.His4336Gln) c.13005C>G (p.His4335Gln) c.12957C>G (p.His4319Gln) c.12654C>G (p.His4218Gln) c.13188C>G (p.His4396Gln) c.13185C>G (p.His4395Gln) c.13167C>G (p.His4389Gln) c.13143C>G (p.His4381Gln) c.13140C>G (p.His4380Gln) c.13137C>G (p.His4379Gln) c.13089C>G (p.His4363Gln) c.13077C>G (p.His4359Gln) c.12939C>G (p.His4313Gln) c.12786C>G (p.His4262Gln) | |
X | g.53534540G>T | CA413145897 | HUWE1 | c.12591C>A (p.His4197Gln) c.12807C>A (p.His4269Gln) c.3274C>A n.120C>A c.12780C>A (p.His4260Gln) c.13056C>A (p.His4352Gln) c.13053C>A (p.His4351Gln) c.13011C>A (p.His4337Gln) c.13008C>A (p.His4336Gln) c.13005C>A (p.His4335Gln) c.12957C>A (p.His4319Gln) c.12654C>A (p.His4218Gln) c.13188C>A (p.His4396Gln) c.13185C>A (p.His4395Gln) c.13167C>A (p.His4389Gln) c.13143C>A (p.His4381Gln) c.13140C>A (p.His4380Gln) c.13137C>A (p.His4379Gln) c.13089C>A (p.His4363Gln) c.13077C>A (p.His4359Gln) c.12939C>A (p.His4313Gln) c.12786C>A (p.His4262Gln) | |
X | g.53534541T>A | CA413145900 | HUWE1 | c.12590A>T (p.His4197Leu) c.12806A>T (p.His4269Leu) c.3273A>T n.119A>T c.12779A>T (p.His4260Leu) c.13055A>T (p.His4352Leu) c.13052A>T (p.His4351Leu) c.13010A>T (p.His4337Leu) c.13007A>T (p.His4336Leu) c.13004A>T (p.His4335Leu) c.12956A>T (p.His4319Leu) c.12653A>T (p.His4218Leu) c.13187A>T (p.His4396Leu) c.13184A>T (p.His4395Leu) c.13166A>T (p.His4389Leu) c.13142A>T (p.His4381Leu) c.13139A>T (p.His4380Leu) c.13136A>T (p.His4379Leu) c.13088A>T (p.His4363Leu) c.13076A>T (p.His4359Leu) c.12938A>T (p.His4313Leu) c.12785A>T (p.His4262Leu) | |
X | g.53534541T>C | CA413145903 | HUWE1 | c.12590A>G (p.His4197Arg) c.12806A>G (p.His4269Arg) c.3273A>G n.119A>G c.12779A>G (p.His4260Arg) c.13055A>G (p.His4352Arg) c.13052A>G (p.His4351Arg) c.13010A>G (p.His4337Arg) c.13007A>G (p.His4336Arg) c.13004A>G (p.His4335Arg) c.12956A>G (p.His4319Arg) c.12653A>G (p.His4218Arg) c.13187A>G (p.His4396Arg) c.13184A>G (p.His4395Arg) c.13166A>G (p.His4389Arg) c.13142A>G (p.His4381Arg) c.13139A>G (p.His4380Arg) c.13136A>G (p.His4379Arg) c.13088A>G (p.His4363Arg) c.13076A>G (p.His4359Arg) c.12938A>G (p.His4313Arg) c.12785A>G (p.His4262Arg) | gnomAD v4 |
X | g.53534541T>G | CA413145906 | HUWE1 | c.12590A>C (p.His4197Pro) c.12806A>C (p.His4269Pro) c.3273A>C n.119A>C c.12779A>C (p.His4260Pro) c.13055A>C (p.His4352Pro) c.13052A>C (p.His4351Pro) c.13010A>C (p.His4337Pro) c.13007A>C (p.His4336Pro) c.13004A>C (p.His4335Pro) c.12956A>C (p.His4319Pro) c.12653A>C (p.His4218Pro) c.13187A>C (p.His4396Pro) c.13184A>C (p.His4395Pro) c.13166A>C (p.His4389Pro) c.13142A>C (p.His4381Pro) c.13139A>C (p.His4380Pro) c.13136A>C (p.His4379Pro) c.13088A>C (p.His4363Pro) c.13076A>C (p.His4359Pro) c.12938A>C (p.His4313Pro) c.12785A>C (p.His4262Pro) | |
X | g.53534542G>A | CA413145914 | HUWE1 | c.12589C>T (p.His4197Tyr) c.12805C>T (p.His4269Tyr) c.3272C>T n.118C>T c.12778C>T (p.His4260Tyr) c.13054C>T (p.His4352Tyr) c.13051C>T (p.His4351Tyr) c.13009C>T (p.His4337Tyr) c.13006C>T (p.His4336Tyr) c.13003C>T (p.His4335Tyr) c.12955C>T (p.His4319Tyr) c.12652C>T (p.His4218Tyr) c.13186C>T (p.His4396Tyr) c.13183C>T (p.His4395Tyr) c.13165C>T (p.His4389Tyr) c.13141C>T (p.His4381Tyr) c.13138C>T (p.His4380Tyr) c.13135C>T (p.His4379Tyr) c.13087C>T (p.His4363Tyr) c.13075C>T (p.His4359Tyr) c.12937C>T (p.His4313Tyr) c.12784C>T (p.His4262Tyr) | |
X | g.53534542G>C | CA413145916 | HUWE1 | c.12589C>G (p.His4197Asp) c.12805C>G (p.His4269Asp) c.3272C>G n.118C>G c.12778C>G (p.His4260Asp) c.13054C>G (p.His4352Asp) c.13051C>G (p.His4351Asp) c.13009C>G (p.His4337Asp) c.13006C>G (p.His4336Asp) c.13003C>G (p.His4335Asp) c.12955C>G (p.His4319Asp) c.12652C>G (p.His4218Asp) c.13186C>G (p.His4396Asp) c.13183C>G (p.His4395Asp) c.13165C>G (p.His4389Asp) c.13141C>G (p.His4381Asp) c.13138C>G (p.His4380Asp) c.13135C>G (p.His4379Asp) c.13087C>G (p.His4363Asp) c.13075C>G (p.His4359Asp) c.12937C>G (p.His4313Asp) c.12784C>G (p.His4262Asp) | |
X | g.53534542G>T | CA413145918 | HUWE1 | c.12589C>A (p.His4197Asn) c.12805C>A (p.His4269Asn) c.3272C>A n.118C>A c.12778C>A (p.His4260Asn) c.13054C>A (p.His4352Asn) c.13051C>A (p.His4351Asn) c.13009C>A (p.His4337Asn) c.13006C>A (p.His4336Asn) c.13003C>A (p.His4335Asn) c.12955C>A (p.His4319Asn) c.12652C>A (p.His4218Asn) c.13186C>A (p.His4396Asn) c.13183C>A (p.His4395Asn) c.13165C>A (p.His4389Asn) c.13141C>A (p.His4381Asn) c.13138C>A (p.His4380Asn) c.13135C>A (p.His4379Asn) c.13087C>A (p.His4363Asn) c.13075C>A (p.His4359Asn) c.12937C>A (p.His4313Asn) c.12784C>A (p.His4262Asn) | |
X | g.53534543G>A | CA516420296 | HUWE1 | c.12588C>T (p.Tyr4196=) c.12804C>T (p.Tyr4268=) c.3271C>T n.117C>T c.12777C>T (p.Tyr4259=) c.13053C>T (p.Tyr4351=) c.13050C>T (p.Tyr4350=) c.13008C>T (p.Tyr4336=) c.13005C>T (p.Tyr4335=) c.13002C>T (p.Tyr4334=) c.12954C>T (p.Tyr4318=) c.12651C>T (p.Tyr4217=) c.13185C>T (p.Tyr4395=) c.13182C>T (p.Tyr4394=) c.13164C>T (p.Tyr4388=) c.13140C>T (p.Tyr4380=) c.13137C>T (p.Tyr4379=) c.13134C>T (p.Tyr4378=) c.13086C>T (p.Tyr4362=) c.13074C>T (p.Tyr4358=) c.12936C>T (p.Tyr4312=) c.12783C>T (p.Tyr4261=) | |
X | g.53534543G>C | CA413145925 | HUWE1 | c.12588C>G (p.Tyr4196Ter) c.12804C>G (p.Tyr4268Ter) c.3271C>G n.117C>G c.12777C>G (p.Tyr4259Ter) c.13053C>G (p.Tyr4351Ter) c.13050C>G (p.Tyr4350Ter) c.13008C>G (p.Tyr4336Ter) c.13005C>G (p.Tyr4335Ter) c.13002C>G (p.Tyr4334Ter) c.12954C>G (p.Tyr4318Ter) c.12651C>G (p.Tyr4217Ter) c.13185C>G (p.Tyr4395Ter) c.13182C>G (p.Tyr4394Ter) c.13164C>G (p.Tyr4388Ter) c.13140C>G (p.Tyr4380Ter) c.13137C>G (p.Tyr4379Ter) c.13134C>G (p.Tyr4378Ter) c.13086C>G (p.Tyr4362Ter) c.13074C>G (p.Tyr4358Ter) c.12936C>G (p.Tyr4312Ter) c.12783C>G (p.Tyr4261Ter) | |
X | g.53534543G>T | CA413145931 | HUWE1 | c.12588C>A (p.Tyr4196Ter) c.12804C>A (p.Tyr4268Ter) c.3271C>A n.117C>A c.12777C>A (p.Tyr4259Ter) c.13053C>A (p.Tyr4351Ter) c.13050C>A (p.Tyr4350Ter) c.13008C>A (p.Tyr4336Ter) c.13005C>A (p.Tyr4335Ter) c.13002C>A (p.Tyr4334Ter) c.12954C>A (p.Tyr4318Ter) c.12651C>A (p.Tyr4217Ter) c.13185C>A (p.Tyr4395Ter) c.13182C>A (p.Tyr4394Ter) c.13164C>A (p.Tyr4388Ter) c.13140C>A (p.Tyr4380Ter) c.13137C>A (p.Tyr4379Ter) c.13134C>A (p.Tyr4378Ter) c.13086C>A (p.Tyr4362Ter) c.13074C>A (p.Tyr4358Ter) c.12936C>A (p.Tyr4312Ter) c.12783C>A (p.Tyr4261Ter) | |
X | g.53534544T>A | CA413145936 | HUWE1 | c.12587A>T (p.Tyr4196Phe) c.12803A>T (p.Tyr4268Phe) c.3270A>T n.116A>T c.12776A>T (p.Tyr4259Phe) c.13052A>T (p.Tyr4351Phe) c.13049A>T (p.Tyr4350Phe) c.13007A>T (p.Tyr4336Phe) c.13004A>T (p.Tyr4335Phe) c.13001A>T (p.Tyr4334Phe) c.12953A>T (p.Tyr4318Phe) c.12650A>T (p.Tyr4217Phe) c.13184A>T (p.Tyr4395Phe) c.13181A>T (p.Tyr4394Phe) c.13163A>T (p.Tyr4388Phe) c.13139A>T (p.Tyr4380Phe) c.13136A>T (p.Tyr4379Phe) c.13133A>T (p.Tyr4378Phe) c.13085A>T (p.Tyr4362Phe) c.13073A>T (p.Tyr4358Phe) c.12935A>T (p.Tyr4312Phe) c.12782A>T (p.Tyr4261Phe) | |
X | g.53534544T>C | CA413145943 | HUWE1 | c.12587A>G (p.Tyr4196Cys) c.12803A>G (p.Tyr4268Cys) c.3270A>G n.116A>G c.12776A>G (p.Tyr4259Cys) c.13052A>G (p.Tyr4351Cys) c.13049A>G (p.Tyr4350Cys) c.13007A>G (p.Tyr4336Cys) c.13004A>G (p.Tyr4335Cys) c.13001A>G (p.Tyr4334Cys) c.12953A>G (p.Tyr4318Cys) c.12650A>G (p.Tyr4217Cys) c.13184A>G (p.Tyr4395Cys) c.13181A>G (p.Tyr4394Cys) c.13163A>G (p.Tyr4388Cys) c.13139A>G (p.Tyr4380Cys) c.13136A>G (p.Tyr4379Cys) c.13133A>G (p.Tyr4378Cys) c.13085A>G (p.Tyr4362Cys) c.13073A>G (p.Tyr4358Cys) c.12935A>G (p.Tyr4312Cys) c.12782A>G (p.Tyr4261Cys) | |
X | g.53534544T>G | CA413145946 | HUWE1 | c.12587A>C (p.Tyr4196Ser) c.12803A>C (p.Tyr4268Ser) c.3270A>C n.116A>C c.12776A>C (p.Tyr4259Ser) c.13052A>C (p.Tyr4351Ser) c.13049A>C (p.Tyr4350Ser) c.13007A>C (p.Tyr4336Ser) c.13004A>C (p.Tyr4335Ser) c.13001A>C (p.Tyr4334Ser) c.12953A>C (p.Tyr4318Ser) c.12650A>C (p.Tyr4217Ser) c.13184A>C (p.Tyr4395Ser) c.13181A>C (p.Tyr4394Ser) c.13163A>C (p.Tyr4388Ser) c.13139A>C (p.Tyr4380Ser) c.13136A>C (p.Tyr4379Ser) c.13133A>C (p.Tyr4378Ser) c.13085A>C (p.Tyr4362Ser) c.13073A>C (p.Tyr4358Ser) c.12935A>C (p.Tyr4312Ser) c.12782A>C (p.Tyr4261Ser) | |
X | g.53534545A>C | CA413145959 | HUWE1 | c.12586T>G (p.Tyr4196Asp) c.12802T>G (p.Tyr4268Asp) c.3269T>G n.115T>G c.12775T>G (p.Tyr4259Asp) c.13051T>G (p.Tyr4351Asp) c.13048T>G (p.Tyr4350Asp) c.13006T>G (p.Tyr4336Asp) c.13003T>G (p.Tyr4335Asp) c.13000T>G (p.Tyr4334Asp) c.12952T>G (p.Tyr4318Asp) c.12649T>G (p.Tyr4217Asp) c.13183T>G (p.Tyr4395Asp) c.13180T>G (p.Tyr4394Asp) c.13162T>G (p.Tyr4388Asp) c.13138T>G (p.Tyr4380Asp) c.13135T>G (p.Tyr4379Asp) c.13132T>G (p.Tyr4378Asp) c.13084T>G (p.Tyr4362Asp) c.13072T>G (p.Tyr4358Asp) c.12934T>G (p.Tyr4312Asp) c.12781T>G (p.Tyr4261Asp) | |
X | g.53534545A>G | CA413145956 | HUWE1 | c.12586T>C (p.Tyr4196His) c.12802T>C (p.Tyr4268His) c.3269T>C n.115T>C c.12775T>C (p.Tyr4259His) c.13051T>C (p.Tyr4351His) c.13048T>C (p.Tyr4350His) c.13006T>C (p.Tyr4336His) c.13003T>C (p.Tyr4335His) c.13000T>C (p.Tyr4334His) c.12952T>C (p.Tyr4318His) c.12649T>C (p.Tyr4217His) c.13183T>C (p.Tyr4395His) c.13180T>C (p.Tyr4394His) c.13162T>C (p.Tyr4388His) c.13138T>C (p.Tyr4380His) c.13135T>C (p.Tyr4379His) c.13132T>C (p.Tyr4378His) c.13084T>C (p.Tyr4362His) c.13072T>C (p.Tyr4358His) c.12934T>C (p.Tyr4312His) c.12781T>C (p.Tyr4261His) | |
X | g.53534545A>T | CA413145952 | HUWE1 | c.12586T>A (p.Tyr4196Asn) c.12802T>A (p.Tyr4268Asn) c.3269T>A n.115T>A c.12775T>A (p.Tyr4259Asn) c.13051T>A (p.Tyr4351Asn) c.13048T>A (p.Tyr4350Asn) c.13006T>A (p.Tyr4336Asn) c.13003T>A (p.Tyr4335Asn) c.13000T>A (p.Tyr4334Asn) c.12952T>A (p.Tyr4318Asn) c.12649T>A (p.Tyr4217Asn) c.13183T>A (p.Tyr4395Asn) c.13180T>A (p.Tyr4394Asn) c.13162T>A (p.Tyr4388Asn) c.13138T>A (p.Tyr4380Asn) c.13135T>A (p.Tyr4379Asn) c.13132T>A (p.Tyr4378Asn) c.13084T>A (p.Tyr4362Asn) c.13072T>A (p.Tyr4358Asn) c.12934T>A (p.Tyr4312Asn) c.12781T>A (p.Tyr4261Asn) | |
X | g.53534546T>A | CA413145973 | HUWE1 | c.12585A>T (p.Glu4195Asp) c.12801A>T (p.Glu4267Asp) c.3268A>T n.114A>T c.12774A>T (p.Glu4258Asp) c.13050A>T (p.Glu4350Asp) c.13047A>T (p.Glu4349Asp) c.13005A>T (p.Glu4335Asp) c.13002A>T (p.Glu4334Asp) c.12999A>T (p.Glu4333Asp) c.12951A>T (p.Glu4317Asp) c.12648A>T (p.Glu4216Asp) c.13182A>T (p.Glu4394Asp) c.13179A>T (p.Glu4393Asp) c.13161A>T (p.Glu4387Asp) c.13137A>T (p.Glu4379Asp) c.13134A>T (p.Glu4378Asp) c.13131A>T (p.Glu4377Asp) c.13083A>T (p.Glu4361Asp) c.13071A>T (p.Glu4357Asp) c.12933A>T (p.Glu4311Asp) c.12780A>T (p.Glu4260Asp) | |
X | g.53534546T>C | CA516420312 | HUWE1 | c.12585A>G (p.Glu4195=) c.12801A>G (p.Glu4267=) c.3268A>G n.114A>G c.12774A>G (p.Glu4258=) c.13050A>G (p.Glu4350=) c.13047A>G (p.Glu4349=) c.13005A>G (p.Glu4335=) c.13002A>G (p.Glu4334=) c.12999A>G (p.Glu4333=) c.12951A>G (p.Glu4317=) c.12648A>G (p.Glu4216=) c.13182A>G (p.Glu4394=) c.13179A>G (p.Glu4393=) c.13161A>G (p.Glu4387=) c.13137A>G (p.Glu4379=) c.13134A>G (p.Glu4378=) c.13131A>G (p.Glu4377=) c.13083A>G (p.Glu4361=) c.13071A>G (p.Glu4357=) c.12933A>G (p.Glu4311=) c.12780A>G (p.Glu4260=) | |
X | g.53534546T>G | CA413145964 | HUWE1 | c.12585A>C (p.Glu4195Asp) c.12801A>C (p.Glu4267Asp) c.3268A>C n.114A>C c.12774A>C (p.Glu4258Asp) c.13050A>C (p.Glu4350Asp) c.13047A>C (p.Glu4349Asp) c.13005A>C (p.Glu4335Asp) c.13002A>C (p.Glu4334Asp) c.12999A>C (p.Glu4333Asp) c.12951A>C (p.Glu4317Asp) c.12648A>C (p.Glu4216Asp) c.13182A>C (p.Glu4394Asp) c.13179A>C (p.Glu4393Asp) c.13161A>C (p.Glu4387Asp) c.13137A>C (p.Glu4379Asp) c.13134A>C (p.Glu4378Asp) c.13131A>C (p.Glu4377Asp) c.13083A>C (p.Glu4361Asp) c.13071A>C (p.Glu4357Asp) c.12933A>C (p.Glu4311Asp) c.12780A>C (p.Glu4260Asp) | |
X | g.53534547T>A | CA413145977 | HUWE1 | c.12584A>T (p.Glu4195Val) c.12800A>T (p.Glu4267Val) c.3267A>T n.113A>T c.12773A>T (p.Glu4258Val) c.13049A>T (p.Glu4350Val) c.13046A>T (p.Glu4349Val) c.13004A>T (p.Glu4335Val) c.13001A>T (p.Glu4334Val) c.12998A>T (p.Glu4333Val) c.12950A>T (p.Glu4317Val) c.12647A>T (p.Glu4216Val) c.13181A>T (p.Glu4394Val) c.13178A>T (p.Glu4393Val) c.13160A>T (p.Glu4387Val) c.13136A>T (p.Glu4379Val) c.13133A>T (p.Glu4378Val) c.13130A>T (p.Glu4377Val) c.13082A>T (p.Glu4361Val) c.13070A>T (p.Glu4357Val) c.12932A>T (p.Glu4311Val) c.12779A>T (p.Glu4260Val) | |
X | g.53534547T>C | CA413145980 | HUWE1 | c.12584A>G (p.Glu4195Gly) c.12800A>G (p.Glu4267Gly) c.3267A>G n.113A>G c.12773A>G (p.Glu4258Gly) c.13049A>G (p.Glu4350Gly) c.13046A>G (p.Glu4349Gly) c.13004A>G (p.Glu4335Gly) c.13001A>G (p.Glu4334Gly) c.12998A>G (p.Glu4333Gly) c.12950A>G (p.Glu4317Gly) c.12647A>G (p.Glu4216Gly) c.13181A>G (p.Glu4394Gly) c.13178A>G (p.Glu4393Gly) c.13160A>G (p.Glu4387Gly) c.13136A>G (p.Glu4379Gly) c.13133A>G (p.Glu4378Gly) c.13130A>G (p.Glu4377Gly) c.13082A>G (p.Glu4361Gly) c.13070A>G (p.Glu4357Gly) c.12932A>G (p.Glu4311Gly) c.12779A>G (p.Glu4260Gly) | |
X | g.53534547T>G | CA413145989 | HUWE1 | c.12584A>C (p.Glu4195Ala) c.12800A>C (p.Glu4267Ala) c.3267A>C n.113A>C c.12773A>C (p.Glu4258Ala) c.13049A>C (p.Glu4350Ala) c.13046A>C (p.Glu4349Ala) c.13004A>C (p.Glu4335Ala) c.13001A>C (p.Glu4334Ala) c.12998A>C (p.Glu4333Ala) c.12950A>C (p.Glu4317Ala) c.12647A>C (p.Glu4216Ala) c.13181A>C (p.Glu4394Ala) c.13178A>C (p.Glu4393Ala) c.13160A>C (p.Glu4387Ala) c.13136A>C (p.Glu4379Ala) c.13133A>C (p.Glu4378Ala) c.13130A>C (p.Glu4377Ala) c.13082A>C (p.Glu4361Ala) c.13070A>C (p.Glu4357Ala) c.12932A>C (p.Glu4311Ala) c.12779A>C (p.Glu4260Ala) | |
X | g.53534548C>A | CA413145996 | HUWE1 | c.12583G>T (p.Glu4195Ter) c.12799G>T (p.Glu4267Ter) c.3266G>T n.112G>T c.12772G>T (p.Glu4258Ter) c.13048G>T (p.Glu4350Ter) c.13045G>T (p.Glu4349Ter) c.13003G>T (p.Glu4335Ter) c.13000G>T (p.Glu4334Ter) c.12997G>T (p.Glu4333Ter) c.12949G>T (p.Glu4317Ter) c.12646G>T (p.Glu4216Ter) c.13180G>T (p.Glu4394Ter) c.13177G>T (p.Glu4393Ter) c.13159G>T (p.Glu4387Ter) c.13135G>T (p.Glu4379Ter) c.13132G>T (p.Glu4378Ter) c.13129G>T (p.Glu4377Ter) c.13081G>T (p.Glu4361Ter) c.13069G>T (p.Glu4357Ter) c.12931G>T (p.Glu4311Ter) c.12778G>T (p.Glu4260Ter) | |
X | g.53534548C>G | CA413145997 | HUWE1 | c.12583G>C (p.Glu4195Gln) c.12799G>C (p.Glu4267Gln) c.3266G>C n.112G>C c.12772G>C (p.Glu4258Gln) c.13048G>C (p.Glu4350Gln) c.13045G>C (p.Glu4349Gln) c.13003G>C (p.Glu4335Gln) c.13000G>C (p.Glu4334Gln) c.12997G>C (p.Glu4333Gln) c.12949G>C (p.Glu4317Gln) c.12646G>C (p.Glu4216Gln) c.13180G>C (p.Glu4394Gln) c.13177G>C (p.Glu4393Gln) c.13159G>C (p.Glu4387Gln) c.13135G>C (p.Glu4379Gln) c.13132G>C (p.Glu4378Gln) c.13129G>C (p.Glu4377Gln) c.13081G>C (p.Glu4361Gln) c.13069G>C (p.Glu4357Gln) c.12931G>C (p.Glu4311Gln) c.12778G>C (p.Glu4260Gln) | |
X | g.53534548C>T | CA413145999 | HUWE1 | c.12583G>A (p.Glu4195Lys) c.12799G>A (p.Glu4267Lys) c.3266G>A n.112G>A c.12772G>A (p.Glu4258Lys) c.13048G>A (p.Glu4350Lys) c.13045G>A (p.Glu4349Lys) c.13003G>A (p.Glu4335Lys) c.13000G>A (p.Glu4334Lys) c.12997G>A (p.Glu4333Lys) c.12949G>A (p.Glu4317Lys) c.12646G>A (p.Glu4216Lys) c.13180G>A (p.Glu4394Lys) c.13177G>A (p.Glu4393Lys) c.13159G>A (p.Glu4387Lys) c.13135G>A (p.Glu4379Lys) c.13132G>A (p.Glu4378Lys) c.13129G>A (p.Glu4377Lys) c.13081G>A (p.Glu4361Lys) c.13069G>A (p.Glu4357Lys) c.12931G>A (p.Glu4311Lys) c.12778G>A (p.Glu4260Lys) | |
X | g.53534549A>C | CA516420330 | HUWE1 | c.12582T>G (p.Thr4194=) c.12798T>G (p.Thr4266=) c.3265T>G n.111T>G c.12771T>G (p.Thr4257=) c.13047T>G (p.Thr4349=) c.13044T>G (p.Thr4348=) c.13002T>G (p.Thr4334=) c.12999T>G (p.Thr4333=) c.12996T>G (p.Thr4332=) c.12948T>G (p.Thr4316=) c.12645T>G (p.Thr4215=) c.13179T>G (p.Thr4393=) c.13176T>G (p.Thr4392=) c.13158T>G (p.Thr4386=) c.13134T>G (p.Thr4378=) c.13131T>G (p.Thr4377=) c.13128T>G (p.Thr4376=) c.13080T>G (p.Thr4360=) c.13068T>G (p.Thr4356=) c.12930T>G (p.Thr4310=) c.12777T>G (p.Thr4259=) | |
X | g.53534549A>G | CA516420329 | HUWE1 | c.12582T>C (p.Thr4194=) c.12798T>C (p.Thr4266=) c.3265T>C n.111T>C c.12771T>C (p.Thr4257=) c.13047T>C (p.Thr4349=) c.13044T>C (p.Thr4348=) c.13002T>C (p.Thr4334=) c.12999T>C (p.Thr4333=) c.12996T>C (p.Thr4332=) c.12948T>C (p.Thr4316=) c.12645T>C (p.Thr4215=) c.13179T>C (p.Thr4393=) c.13176T>C (p.Thr4392=) c.13158T>C (p.Thr4386=) c.13134T>C (p.Thr4378=) c.13131T>C (p.Thr4377=) c.13128T>C (p.Thr4376=) c.13080T>C (p.Thr4360=) c.13068T>C (p.Thr4356=) c.12930T>C (p.Thr4310=) c.12777T>C (p.Thr4259=) | |
X | g.53534549A>T | CA516420328 | HUWE1 | c.12582T>A (p.Thr4194=) c.12798T>A (p.Thr4266=) c.3265T>A n.111T>A c.12771T>A (p.Thr4257=) c.13047T>A (p.Thr4349=) c.13044T>A (p.Thr4348=) c.13002T>A (p.Thr4334=) c.12999T>A (p.Thr4333=) c.12996T>A (p.Thr4332=) c.12948T>A (p.Thr4316=) c.12645T>A (p.Thr4215=) c.13179T>A (p.Thr4393=) c.13176T>A (p.Thr4392=) c.13158T>A (p.Thr4386=) c.13134T>A (p.Thr4378=) c.13131T>A (p.Thr4377=) c.13128T>A (p.Thr4376=) c.13080T>A (p.Thr4360=) c.13068T>A (p.Thr4356=) c.12930T>A (p.Thr4310=) c.12777T>A (p.Thr4259=) | |
X | g.53534550G>A | CA413146003 | HUWE1 | c.12581C>T (p.Thr4194Ile) c.12797C>T (p.Thr4266Ile) c.3264C>T n.110C>T c.12770C>T (p.Thr4257Ile) c.13046C>T (p.Thr4349Ile) c.13043C>T (p.Thr4348Ile) c.13001C>T (p.Thr4334Ile) c.12998C>T (p.Thr4333Ile) c.12995C>T (p.Thr4332Ile) c.12947C>T (p.Thr4316Ile) c.12644C>T (p.Thr4215Ile) c.13178C>T (p.Thr4393Ile) c.13175C>T (p.Thr4392Ile) c.13157C>T (p.Thr4386Ile) c.13133C>T (p.Thr4378Ile) c.13130C>T (p.Thr4377Ile) c.13127C>T (p.Thr4376Ile) c.13079C>T (p.Thr4360Ile) c.13067C>T (p.Thr4356Ile) c.12929C>T (p.Thr4310Ile) c.12776C>T (p.Thr4259Ile) | |
X | g.53534550G>C | CA413146006 | HUWE1 | c.12581C>G (p.Thr4194Ser) c.12797C>G (p.Thr4266Ser) c.3264C>G n.110C>G c.12770C>G (p.Thr4257Ser) c.13046C>G (p.Thr4349Ser) c.13043C>G (p.Thr4348Ser) c.13001C>G (p.Thr4334Ser) c.12998C>G (p.Thr4333Ser) c.12995C>G (p.Thr4332Ser) c.12947C>G (p.Thr4316Ser) c.12644C>G (p.Thr4215Ser) c.13178C>G (p.Thr4393Ser) c.13175C>G (p.Thr4392Ser) c.13157C>G (p.Thr4386Ser) c.13133C>G (p.Thr4378Ser) c.13130C>G (p.Thr4377Ser) c.13127C>G (p.Thr4376Ser) c.13079C>G (p.Thr4360Ser) c.13067C>G (p.Thr4356Ser) c.12929C>G (p.Thr4310Ser) c.12776C>G (p.Thr4259Ser) | |
X | g.53534550G>T | CA413146010 | HUWE1 | c.12581C>A (p.Thr4194Asn) c.12797C>A (p.Thr4266Asn) c.3264C>A n.110C>A c.12770C>A (p.Thr4257Asn) c.13046C>A (p.Thr4349Asn) c.13043C>A (p.Thr4348Asn) c.13001C>A (p.Thr4334Asn) c.12998C>A (p.Thr4333Asn) c.12995C>A (p.Thr4332Asn) c.12947C>A (p.Thr4316Asn) c.12644C>A (p.Thr4215Asn) c.13178C>A (p.Thr4393Asn) c.13175C>A (p.Thr4392Asn) c.13157C>A (p.Thr4386Asn) c.13133C>A (p.Thr4378Asn) c.13130C>A (p.Thr4377Asn) c.13127C>A (p.Thr4376Asn) c.13079C>A (p.Thr4360Asn) c.13067C>A (p.Thr4356Asn) c.12929C>A (p.Thr4310Asn) c.12776C>A (p.Thr4259Asn) | |
X | g.53534551T>A | CA413146017 | HUWE1 | c.12580A>T (p.Thr4194Ser) c.12796A>T (p.Thr4266Ser) c.3263A>T n.109A>T c.12769A>T (p.Thr4257Ser) c.13045A>T (p.Thr4349Ser) c.13042A>T (p.Thr4348Ser) c.13000A>T (p.Thr4334Ser) c.12997A>T (p.Thr4333Ser) c.12994A>T (p.Thr4332Ser) c.12946A>T (p.Thr4316Ser) c.12643A>T (p.Thr4215Ser) c.13177A>T (p.Thr4393Ser) c.13174A>T (p.Thr4392Ser) c.13156A>T (p.Thr4386Ser) c.13132A>T (p.Thr4378Ser) c.13129A>T (p.Thr4377Ser) c.13126A>T (p.Thr4376Ser) c.13078A>T (p.Thr4360Ser) c.13066A>T (p.Thr4356Ser) c.12928A>T (p.Thr4310Ser) c.12775A>T (p.Thr4259Ser) | |
X | g.53534551T>C | CA413146020 | HUWE1 | c.12580A>G (p.Thr4194Ala) c.12796A>G (p.Thr4266Ala) c.3263A>G n.109A>G c.12769A>G (p.Thr4257Ala) c.13045A>G (p.Thr4349Ala) c.13042A>G (p.Thr4348Ala) c.13000A>G (p.Thr4334Ala) c.12997A>G (p.Thr4333Ala) c.12994A>G (p.Thr4332Ala) c.12946A>G (p.Thr4316Ala) c.12643A>G (p.Thr4215Ala) c.13177A>G (p.Thr4393Ala) c.13174A>G (p.Thr4392Ala) c.13156A>G (p.Thr4386Ala) c.13132A>G (p.Thr4378Ala) c.13129A>G (p.Thr4377Ala) c.13126A>G (p.Thr4376Ala) c.13078A>G (p.Thr4360Ala) c.13066A>G (p.Thr4356Ala) c.12928A>G (p.Thr4310Ala) c.12775A>G (p.Thr4259Ala) | |
X | g.53534551T>G | CA413146024 | HUWE1 | c.12580A>C (p.Thr4194Pro) c.12796A>C (p.Thr4266Pro) c.3263A>C n.109A>C c.12769A>C (p.Thr4257Pro) c.13045A>C (p.Thr4349Pro) c.13042A>C (p.Thr4348Pro) c.13000A>C (p.Thr4334Pro) c.12997A>C (p.Thr4333Pro) c.12994A>C (p.Thr4332Pro) c.12946A>C (p.Thr4316Pro) c.12643A>C (p.Thr4215Pro) c.13177A>C (p.Thr4393Pro) c.13174A>C (p.Thr4392Pro) c.13156A>C (p.Thr4386Pro) c.13132A>C (p.Thr4378Pro) c.13129A>C (p.Thr4377Pro) c.13126A>C (p.Thr4376Pro) c.13078A>C (p.Thr4360Pro) c.13066A>C (p.Thr4356Pro) c.12928A>C (p.Thr4310Pro) c.12775A>C (p.Thr4259Pro) | |
X | g.53534552G>A | CA516420342 | HUWE1 | c.12579C>T (p.Asn4193=) c.12795C>T (p.Asn4265=) c.3262C>T n.108C>T c.12768C>T (p.Asn4256=) c.13044C>T (p.Asn4348=) c.13041C>T (p.Asn4347=) c.12999C>T (p.Asn4333=) c.12996C>T (p.Asn4332=) c.12993C>T (p.Asn4331=) c.12945C>T (p.Asn4315=) c.12642C>T (p.Asn4214=) c.13176C>T (p.Asn4392=) c.13173C>T (p.Asn4391=) c.13155C>T (p.Asn4385=) c.13131C>T (p.Asn4377=) c.13128C>T (p.Asn4376=) c.13125C>T (p.Asn4375=) c.13077C>T (p.Asn4359=) c.13065C>T (p.Asn4355=) c.12927C>T (p.Asn4309=) c.12774C>T (p.Asn4258=) | |
X | g.53534552G>C | CA413146035 | HUWE1 | c.12579C>G (p.Asn4193Lys) c.12795C>G (p.Asn4265Lys) c.3262C>G n.108C>G c.12768C>G (p.Asn4256Lys) c.13044C>G (p.Asn4348Lys) c.13041C>G (p.Asn4347Lys) c.12999C>G (p.Asn4333Lys) c.12996C>G (p.Asn4332Lys) c.12993C>G (p.Asn4331Lys) c.12945C>G (p.Asn4315Lys) c.12642C>G (p.Asn4214Lys) c.13176C>G (p.Asn4392Lys) c.13173C>G (p.Asn4391Lys) c.13155C>G (p.Asn4385Lys) c.13131C>G (p.Asn4377Lys) c.13128C>G (p.Asn4376Lys) c.13125C>G (p.Asn4375Lys) c.13077C>G (p.Asn4359Lys) c.13065C>G (p.Asn4355Lys) c.12927C>G (p.Asn4309Lys) c.12774C>G (p.Asn4258Lys) | |
X | g.53534552G>T | CA413146031 | HUWE1 | c.12579C>A (p.Asn4193Lys) c.12795C>A (p.Asn4265Lys) c.3262C>A n.108C>A c.12768C>A (p.Asn4256Lys) c.13044C>A (p.Asn4348Lys) c.13041C>A (p.Asn4347Lys) c.12999C>A (p.Asn4333Lys) c.12996C>A (p.Asn4332Lys) c.12993C>A (p.Asn4331Lys) c.12945C>A (p.Asn4315Lys) c.12642C>A (p.Asn4214Lys) c.13176C>A (p.Asn4392Lys) c.13173C>A (p.Asn4391Lys) c.13155C>A (p.Asn4385Lys) c.13131C>A (p.Asn4377Lys) c.13128C>A (p.Asn4376Lys) c.13125C>A (p.Asn4375Lys) c.13077C>A (p.Asn4359Lys) c.13065C>A (p.Asn4355Lys) c.12927C>A (p.Asn4309Lys) c.12774C>A (p.Asn4258Lys) | |
X | g.53534553T>A | CA413146041 | HUWE1 | c.12578A>T (p.Asn4193Ile) c.12794A>T (p.Asn4265Ile) c.3261A>T n.107A>T c.12767A>T (p.Asn4256Ile) c.13043A>T (p.Asn4348Ile) c.13040A>T (p.Asn4347Ile) c.12998A>T (p.Asn4333Ile) c.12995A>T (p.Asn4332Ile) c.12992A>T (p.Asn4331Ile) c.12944A>T (p.Asn4315Ile) c.12641A>T (p.Asn4214Ile) c.13175A>T (p.Asn4392Ile) c.13172A>T (p.Asn4391Ile) c.13154A>T (p.Asn4385Ile) c.13130A>T (p.Asn4377Ile) c.13127A>T (p.Asn4376Ile) c.13124A>T (p.Asn4375Ile) c.13076A>T (p.Asn4359Ile) c.13064A>T (p.Asn4355Ile) c.12926A>T (p.Asn4309Ile) c.12773A>T (p.Asn4258Ile) | |
X | g.53534553T>C | CA413146044 | HUWE1 | c.12578A>G (p.Asn4193Ser) c.12794A>G (p.Asn4265Ser) c.3261A>G n.107A>G c.12767A>G (p.Asn4256Ser) c.13043A>G (p.Asn4348Ser) c.13040A>G (p.Asn4347Ser) c.12998A>G (p.Asn4333Ser) c.12995A>G (p.Asn4332Ser) c.12992A>G (p.Asn4331Ser) c.12944A>G (p.Asn4315Ser) c.12641A>G (p.Asn4214Ser) c.13175A>G (p.Asn4392Ser) c.13172A>G (p.Asn4391Ser) c.13154A>G (p.Asn4385Ser) c.13130A>G (p.Asn4377Ser) c.13127A>G (p.Asn4376Ser) c.13124A>G (p.Asn4375Ser) c.13076A>G (p.Asn4359Ser) c.13064A>G (p.Asn4355Ser) c.12926A>G (p.Asn4309Ser) c.12773A>G (p.Asn4258Ser) | |
X | g.53534553T>G | CA413146047 | HUWE1 | c.12578A>C (p.Asn4193Thr) c.12794A>C (p.Asn4265Thr) c.3261A>C n.107A>C c.12767A>C (p.Asn4256Thr) c.13043A>C (p.Asn4348Thr) c.13040A>C (p.Asn4347Thr) c.12998A>C (p.Asn4333Thr) c.12995A>C (p.Asn4332Thr) c.12992A>C (p.Asn4331Thr) c.12944A>C (p.Asn4315Thr) c.12641A>C (p.Asn4214Thr) c.13175A>C (p.Asn4392Thr) c.13172A>C (p.Asn4391Thr) c.13154A>C (p.Asn4385Thr) c.13130A>C (p.Asn4377Thr) c.13127A>C (p.Asn4376Thr) c.13124A>C (p.Asn4375Thr) c.13076A>C (p.Asn4359Thr) c.13064A>C (p.Asn4355Thr) c.12926A>C (p.Asn4309Thr) c.12773A>C (p.Asn4258Thr) | |
X | g.53534554T>A | CA413146057 | HUWE1 | c.12577A>T (p.Asn4193Tyr) c.12793A>T (p.Asn4265Tyr) c.3260A>T n.106A>T c.12766A>T (p.Asn4256Tyr) c.13042A>T (p.Asn4348Tyr) c.13039A>T (p.Asn4347Tyr) c.12997A>T (p.Asn4333Tyr) c.12994A>T (p.Asn4332Tyr) c.12991A>T (p.Asn4331Tyr) c.12943A>T (p.Asn4315Tyr) c.12640A>T (p.Asn4214Tyr) c.13174A>T (p.Asn4392Tyr) c.13171A>T (p.Asn4391Tyr) c.13153A>T (p.Asn4385Tyr) c.13129A>T (p.Asn4377Tyr) c.13126A>T (p.Asn4376Tyr) c.13123A>T (p.Asn4375Tyr) c.13075A>T (p.Asn4359Tyr) c.13063A>T (p.Asn4355Tyr) c.12925A>T (p.Asn4309Tyr) c.12772A>T (p.Asn4258Tyr) | |
X | g.53534554T>C | CA413146059 | HUWE1 | c.12577A>G (p.Asn4193Asp) c.12793A>G (p.Asn4265Asp) c.3260A>G n.106A>G c.12766A>G (p.Asn4256Asp) c.13042A>G (p.Asn4348Asp) c.13039A>G (p.Asn4347Asp) c.12997A>G (p.Asn4333Asp) c.12994A>G (p.Asn4332Asp) c.12991A>G (p.Asn4331Asp) c.12943A>G (p.Asn4315Asp) c.12640A>G (p.Asn4214Asp) c.13174A>G (p.Asn4392Asp) c.13171A>G (p.Asn4391Asp) c.13153A>G (p.Asn4385Asp) c.13129A>G (p.Asn4377Asp) c.13126A>G (p.Asn4376Asp) c.13123A>G (p.Asn4375Asp) c.13075A>G (p.Asn4359Asp) c.13063A>G (p.Asn4355Asp) c.12925A>G (p.Asn4309Asp) c.12772A>G (p.Asn4258Asp) | |
X | g.53534554T>G | CA413146066 | HUWE1 | c.12577A>C (p.Asn4193His) c.12793A>C (p.Asn4265His) c.3260A>C n.106A>C c.12766A>C (p.Asn4256His) c.13042A>C (p.Asn4348His) c.13039A>C (p.Asn4347His) c.12997A>C (p.Asn4333His) c.12994A>C (p.Asn4332His) c.12991A>C (p.Asn4331His) c.12943A>C (p.Asn4315His) c.12640A>C (p.Asn4214His) c.13174A>C (p.Asn4392His) c.13171A>C (p.Asn4391His) c.13153A>C (p.Asn4385His) c.13129A>C (p.Asn4377His) c.13126A>C (p.Asn4376His) c.13123A>C (p.Asn4375His) c.13075A>C (p.Asn4359His) c.13063A>C (p.Asn4355His) c.12925A>C (p.Asn4309His) c.12772A>C (p.Asn4258His) | |
X | g.53534555G>A | CA516420350 | HUWE1 | c.12576C>T (p.Ser4192=) c.12792C>T (p.Ser4264=) c.3259C>T n.105C>T c.12765C>T (p.Ser4255=) c.13041C>T (p.Ser4347=) c.13038C>T (p.Ser4346=) c.12996C>T (p.Ser4332=) c.12993C>T (p.Ser4331=) c.12990C>T (p.Ser4330=) c.12942C>T (p.Ser4314=) c.12639C>T (p.Ser4213=) c.13173C>T (p.Ser4391=) c.13170C>T (p.Ser4390=) c.13152C>T (p.Ser4384=) c.13128C>T (p.Ser4376=) c.13125C>T (p.Ser4375=) c.13122C>T (p.Ser4374=) c.13074C>T (p.Ser4358=) c.13062C>T (p.Ser4354=) c.12924C>T (p.Ser4308=) c.12771C>T (p.Ser4257=) | gnomAD v4 |
X | g.53534555G>C | CA516420354 | HUWE1 | c.12576C>G (p.Ser4192=) c.12792C>G (p.Ser4264=) c.3259C>G n.105C>G c.12765C>G (p.Ser4255=) c.13041C>G (p.Ser4347=) c.13038C>G (p.Ser4346=) c.12996C>G (p.Ser4332=) c.12993C>G (p.Ser4331=) c.12990C>G (p.Ser4330=) c.12942C>G (p.Ser4314=) c.12639C>G (p.Ser4213=) c.13173C>G (p.Ser4391=) c.13170C>G (p.Ser4390=) c.13152C>G (p.Ser4384=) c.13128C>G (p.Ser4376=) c.13125C>G (p.Ser4375=) c.13122C>G (p.Ser4374=) c.13074C>G (p.Ser4358=) c.13062C>G (p.Ser4354=) c.12924C>G (p.Ser4308=) c.12771C>G (p.Ser4257=) | |
X | g.53534555G>T | CA516420352 | HUWE1 | c.12576C>A (p.Ser4192=) c.12792C>A (p.Ser4264=) c.3259C>A n.105C>A c.12765C>A (p.Ser4255=) c.13041C>A (p.Ser4347=) c.13038C>A (p.Ser4346=) c.12996C>A (p.Ser4332=) c.12993C>A (p.Ser4331=) c.12990C>A (p.Ser4330=) c.12942C>A (p.Ser4314=) c.12639C>A (p.Ser4213=) c.13173C>A (p.Ser4391=) c.13170C>A (p.Ser4390=) c.13152C>A (p.Ser4384=) c.13128C>A (p.Ser4376=) c.13125C>A (p.Ser4375=) c.13122C>A (p.Ser4374=) c.13074C>A (p.Ser4358=) c.13062C>A (p.Ser4354=) c.12924C>A (p.Ser4308=) c.12771C>A (p.Ser4257=) | |
X | g.53534556G>A | CA413146070 | HUWE1 | c.12575C>T (p.Ser4192Phe) c.12791C>T (p.Ser4264Phe) c.3258C>T n.104C>T c.12764C>T (p.Ser4255Phe) c.13040C>T (p.Ser4347Phe) c.13037C>T (p.Ser4346Phe) c.12995C>T (p.Ser4332Phe) c.12992C>T (p.Ser4331Phe) c.12989C>T (p.Ser4330Phe) c.12941C>T (p.Ser4314Phe) c.12638C>T (p.Ser4213Phe) c.13172C>T (p.Ser4391Phe) c.13169C>T (p.Ser4390Phe) c.13151C>T (p.Ser4384Phe) c.13127C>T (p.Ser4376Phe) c.13124C>T (p.Ser4375Phe) c.13121C>T (p.Ser4374Phe) c.13073C>T (p.Ser4358Phe) c.13061C>T (p.Ser4354Phe) c.12923C>T (p.Ser4308Phe) c.12770C>T (p.Ser4257Phe) | |
X | g.53534556G>C | CA413146086 | HUWE1 | c.12575C>G (p.Ser4192Cys) c.12791C>G (p.Ser4264Cys) c.3258C>G n.104C>G c.12764C>G (p.Ser4255Cys) c.13040C>G (p.Ser4347Cys) c.13037C>G (p.Ser4346Cys) c.12995C>G (p.Ser4332Cys) c.12992C>G (p.Ser4331Cys) c.12989C>G (p.Ser4330Cys) c.12941C>G (p.Ser4314Cys) c.12638C>G (p.Ser4213Cys) c.13172C>G (p.Ser4391Cys) c.13169C>G (p.Ser4390Cys) c.13151C>G (p.Ser4384Cys) c.13127C>G (p.Ser4376Cys) c.13124C>G (p.Ser4375Cys) c.13121C>G (p.Ser4374Cys) c.13073C>G (p.Ser4358Cys) c.13061C>G (p.Ser4354Cys) c.12923C>G (p.Ser4308Cys) c.12770C>G (p.Ser4257Cys) | |
X | g.53534556G>T | CA413146089 | HUWE1 | c.12575C>A (p.Ser4192Tyr) c.12791C>A (p.Ser4264Tyr) c.3258C>A n.104C>A c.12764C>A (p.Ser4255Tyr) c.13040C>A (p.Ser4347Tyr) c.13037C>A (p.Ser4346Tyr) c.12995C>A (p.Ser4332Tyr) c.12992C>A (p.Ser4331Tyr) c.12989C>A (p.Ser4330Tyr) c.12941C>A (p.Ser4314Tyr) c.12638C>A (p.Ser4213Tyr) c.13172C>A (p.Ser4391Tyr) c.13169C>A (p.Ser4390Tyr) c.13151C>A (p.Ser4384Tyr) c.13127C>A (p.Ser4376Tyr) c.13124C>A (p.Ser4375Tyr) c.13121C>A (p.Ser4374Tyr) c.13073C>A (p.Ser4358Tyr) c.13061C>A (p.Ser4354Tyr) c.12923C>A (p.Ser4308Tyr) c.12770C>A (p.Ser4257Tyr) | |
X | g.53534557A>C | CA413146095 | HUWE1 | c.12574T>G (p.Ser4192Ala) c.12790T>G (p.Ser4264Ala) c.3257T>G n.103T>G c.12763T>G (p.Ser4255Ala) c.13039T>G (p.Ser4347Ala) c.13036T>G (p.Ser4346Ala) c.12994T>G (p.Ser4332Ala) c.12991T>G (p.Ser4331Ala) c.12988T>G (p.Ser4330Ala) c.12940T>G (p.Ser4314Ala) c.12637T>G (p.Ser4213Ala) c.13171T>G (p.Ser4391Ala) c.13168T>G (p.Ser4390Ala) c.13150T>G (p.Ser4384Ala) c.13126T>G (p.Ser4376Ala) c.13123T>G (p.Ser4375Ala) c.13120T>G (p.Ser4374Ala) c.13072T>G (p.Ser4358Ala) c.13060T>G (p.Ser4354Ala) c.12922T>G (p.Ser4308Ala) c.12769T>G (p.Ser4257Ala) | |
X | g.53534557A>G | CA413146103 | HUWE1 | c.12574T>C (p.Ser4192Pro) c.12790T>C (p.Ser4264Pro) c.3257T>C n.103T>C c.12763T>C (p.Ser4255Pro) c.13039T>C (p.Ser4347Pro) c.13036T>C (p.Ser4346Pro) c.12994T>C (p.Ser4332Pro) c.12991T>C (p.Ser4331Pro) c.12988T>C (p.Ser4330Pro) c.12940T>C (p.Ser4314Pro) c.12637T>C (p.Ser4213Pro) c.13171T>C (p.Ser4391Pro) c.13168T>C (p.Ser4390Pro) c.13150T>C (p.Ser4384Pro) c.13126T>C (p.Ser4376Pro) c.13123T>C (p.Ser4375Pro) c.13120T>C (p.Ser4374Pro) c.13072T>C (p.Ser4358Pro) c.13060T>C (p.Ser4354Pro) c.12922T>C (p.Ser4308Pro) c.12769T>C (p.Ser4257Pro) | |
X | g.53534557A>T | CA413146105 | HUWE1 | c.12574T>A (p.Ser4192Thr) c.12790T>A (p.Ser4264Thr) c.3257T>A n.103T>A c.12763T>A (p.Ser4255Thr) c.13039T>A (p.Ser4347Thr) c.13036T>A (p.Ser4346Thr) c.12994T>A (p.Ser4332Thr) c.12991T>A (p.Ser4331Thr) c.12988T>A (p.Ser4330Thr) c.12940T>A (p.Ser4314Thr) c.12637T>A (p.Ser4213Thr) c.13171T>A (p.Ser4391Thr) c.13168T>A (p.Ser4390Thr) c.13150T>A (p.Ser4384Thr) c.13126T>A (p.Ser4376Thr) c.13123T>A (p.Ser4375Thr) c.13120T>A (p.Ser4374Thr) c.13072T>A (p.Ser4358Thr) c.13060T>A (p.Ser4354Thr) c.12922T>A (p.Ser4308Thr) c.12769T>A (p.Ser4257Thr) | |
X | g.53534558T>A | CA413146112 | HUWE1 | c.12573A>T (p.Lys4191Asn) c.12789A>T (p.Lys4263Asn) c.3256A>T n.102A>T c.12762A>T (p.Lys4254Asn) c.13038A>T (p.Lys4346Asn) c.13035A>T (p.Lys4345Asn) c.12993A>T (p.Lys4331Asn) c.12990A>T (p.Lys4330Asn) c.12987A>T (p.Lys4329Asn) c.12939A>T (p.Lys4313Asn) c.12636A>T (p.Lys4212Asn) c.13170A>T (p.Lys4390Asn) c.13167A>T (p.Lys4389Asn) c.13149A>T (p.Lys4383Asn) c.13125A>T (p.Lys4375Asn) c.13122A>T (p.Lys4374Asn) c.13119A>T (p.Lys4373Asn) c.13071A>T (p.Lys4357Asn) c.13059A>T (p.Lys4353Asn) c.12921A>T (p.Lys4307Asn) c.12768A>T (p.Lys4256Asn) | |
X | g.53534558T>C | CA516420365 | HUWE1 | c.12573A>G (p.Lys4191=) c.12789A>G (p.Lys4263=) c.3256A>G n.102A>G c.12762A>G (p.Lys4254=) c.13038A>G (p.Lys4346=) c.13035A>G (p.Lys4345=) c.12993A>G (p.Lys4331=) c.12990A>G (p.Lys4330=) c.12987A>G (p.Lys4329=) c.12939A>G (p.Lys4313=) c.12636A>G (p.Lys4212=) c.13170A>G (p.Lys4390=) c.13167A>G (p.Lys4389=) c.13149A>G (p.Lys4383=) c.13125A>G (p.Lys4375=) c.13122A>G (p.Lys4374=) c.13119A>G (p.Lys4373=) c.13071A>G (p.Lys4357=) c.13059A>G (p.Lys4353=) c.12921A>G (p.Lys4307=) c.12768A>G (p.Lys4256=) | |
X | g.53534558T>G | CA413146117 | HUWE1 | c.12573A>C (p.Lys4191Asn) c.12789A>C (p.Lys4263Asn) c.3256A>C n.102A>C c.12762A>C (p.Lys4254Asn) c.13038A>C (p.Lys4346Asn) c.13035A>C (p.Lys4345Asn) c.12993A>C (p.Lys4331Asn) c.12990A>C (p.Lys4330Asn) c.12987A>C (p.Lys4329Asn) c.12939A>C (p.Lys4313Asn) c.12636A>C (p.Lys4212Asn) c.13170A>C (p.Lys4390Asn) c.13167A>C (p.Lys4389Asn) c.13149A>C (p.Lys4383Asn) c.13125A>C (p.Lys4375Asn) c.13122A>C (p.Lys4374Asn) c.13119A>C (p.Lys4373Asn) c.13071A>C (p.Lys4357Asn) c.13059A>C (p.Lys4353Asn) c.12921A>C (p.Lys4307Asn) c.12768A>C (p.Lys4256Asn) | |
X | g.53534559T>A | CA413146130 | HUWE1 | c.12572A>T (p.Lys4191Ile) c.12788A>T (p.Lys4263Ile) c.3255A>T n.101A>T c.12761A>T (p.Lys4254Ile) c.13037A>T (p.Lys4346Ile) c.13034A>T (p.Lys4345Ile) c.12992A>T (p.Lys4331Ile) c.12989A>T (p.Lys4330Ile) c.12986A>T (p.Lys4329Ile) c.12938A>T (p.Lys4313Ile) c.12635A>T (p.Lys4212Ile) c.13169A>T (p.Lys4390Ile) c.13166A>T (p.Lys4389Ile) c.13148A>T (p.Lys4383Ile) c.13124A>T (p.Lys4375Ile) c.13121A>T (p.Lys4374Ile) c.13118A>T (p.Lys4373Ile) c.13070A>T (p.Lys4357Ile) c.13058A>T (p.Lys4353Ile) c.12920A>T (p.Lys4307Ile) c.12767A>T (p.Lys4256Ile) | |
X | g.53534559T>C | CA413146134 | HUWE1 | c.12572A>G (p.Lys4191Arg) c.12788A>G (p.Lys4263Arg) c.3255A>G n.101A>G c.12761A>G (p.Lys4254Arg) c.13037A>G (p.Lys4346Arg) c.13034A>G (p.Lys4345Arg) c.12992A>G (p.Lys4331Arg) c.12989A>G (p.Lys4330Arg) c.12986A>G (p.Lys4329Arg) c.12938A>G (p.Lys4313Arg) c.12635A>G (p.Lys4212Arg) c.13169A>G (p.Lys4390Arg) c.13166A>G (p.Lys4389Arg) c.13148A>G (p.Lys4383Arg) c.13124A>G (p.Lys4375Arg) c.13121A>G (p.Lys4374Arg) c.13118A>G (p.Lys4373Arg) c.13070A>G (p.Lys4357Arg) c.13058A>G (p.Lys4353Arg) c.12920A>G (p.Lys4307Arg) c.12767A>G (p.Lys4256Arg) | |
X | g.53534559T>G | CA413146124 | HUWE1 | c.12572A>C (p.Lys4191Thr) c.12788A>C (p.Lys4263Thr) c.3255A>C n.101A>C c.12761A>C (p.Lys4254Thr) c.13037A>C (p.Lys4346Thr) c.13034A>C (p.Lys4345Thr) c.12992A>C (p.Lys4331Thr) c.12989A>C (p.Lys4330Thr) c.12986A>C (p.Lys4329Thr) c.12938A>C (p.Lys4313Thr) c.12635A>C (p.Lys4212Thr) c.13169A>C (p.Lys4390Thr) c.13166A>C (p.Lys4389Thr) c.13148A>C (p.Lys4383Thr) c.13124A>C (p.Lys4375Thr) c.13121A>C (p.Lys4374Thr) c.13118A>C (p.Lys4373Thr) c.13070A>C (p.Lys4357Thr) c.13058A>C (p.Lys4353Thr) c.12920A>C (p.Lys4307Thr) c.12767A>C (p.Lys4256Thr) | |
X | g.53534560T>A | CA413146139 | HUWE1 | c.12571A>T (p.Lys4191Ter) c.12787A>T (p.Lys4263Ter) c.3254A>T n.100A>T c.12760A>T (p.Lys4254Ter) c.13036A>T (p.Lys4346Ter) c.13033A>T (p.Lys4345Ter) c.12991A>T (p.Lys4331Ter) c.12988A>T (p.Lys4330Ter) c.12985A>T (p.Lys4329Ter) c.12937A>T (p.Lys4313Ter) c.12634A>T (p.Lys4212Ter) c.13168A>T (p.Lys4390Ter) c.13165A>T (p.Lys4389Ter) c.13147A>T (p.Lys4383Ter) c.13123A>T (p.Lys4375Ter) c.13120A>T (p.Lys4374Ter) c.13117A>T (p.Lys4373Ter) c.13069A>T (p.Lys4357Ter) c.13057A>T (p.Lys4353Ter) c.12919A>T (p.Lys4307Ter) c.12766A>T (p.Lys4256Ter) | |
X | g.53534560T>C | CA413146143 | HUWE1 | c.12571A>G (p.Lys4191Glu) c.12787A>G (p.Lys4263Glu) c.3254A>G n.100A>G c.12760A>G (p.Lys4254Glu) c.13036A>G (p.Lys4346Glu) c.13033A>G (p.Lys4345Glu) c.12991A>G (p.Lys4331Glu) c.12988A>G (p.Lys4330Glu) c.12985A>G (p.Lys4329Glu) c.12937A>G (p.Lys4313Glu) c.12634A>G (p.Lys4212Glu) c.13168A>G (p.Lys4390Glu) c.13165A>G (p.Lys4389Glu) c.13147A>G (p.Lys4383Glu) c.13123A>G (p.Lys4375Glu) c.13120A>G (p.Lys4374Glu) c.13117A>G (p.Lys4373Glu) c.13069A>G (p.Lys4357Glu) c.13057A>G (p.Lys4353Glu) c.12919A>G (p.Lys4307Glu) c.12766A>G (p.Lys4256Glu) | |
X | g.53534560T>G | CA413146146 | HUWE1 | c.12571A>C (p.Lys4191Gln) c.12787A>C (p.Lys4263Gln) c.3254A>C n.100A>C c.12760A>C (p.Lys4254Gln) c.13036A>C (p.Lys4346Gln) c.13033A>C (p.Lys4345Gln) c.12991A>C (p.Lys4331Gln) c.12988A>C (p.Lys4330Gln) c.12985A>C (p.Lys4329Gln) c.12937A>C (p.Lys4313Gln) c.12634A>C (p.Lys4212Gln) c.13168A>C (p.Lys4390Gln) c.13165A>C (p.Lys4389Gln) c.13147A>C (p.Lys4383Gln) c.13123A>C (p.Lys4375Gln) c.13120A>C (p.Lys4374Gln) c.13117A>C (p.Lys4373Gln) c.13069A>C (p.Lys4357Gln) c.13057A>C (p.Lys4353Gln) c.12919A>C (p.Lys4307Gln) c.12766A>C (p.Lys4256Gln) | |
X | g.53534561C>A | CA516420379 | HUWE1 | c.12570G>T (p.Leu4190=) c.12786G>T (p.Leu4262=) c.3253G>T n.99G>T c.12759G>T (p.Leu4253=) c.13035G>T (p.Leu4345=) c.13032G>T (p.Leu4344=) c.12990G>T (p.Leu4330=) c.12987G>T (p.Leu4329=) c.12984G>T (p.Leu4328=) c.12936G>T (p.Leu4312=) c.12633G>T (p.Leu4211=) c.13167G>T (p.Leu4389=) c.13164G>T (p.Leu4388=) c.13146G>T (p.Leu4382=) c.13122G>T (p.Leu4374=) c.13119G>T (p.Leu4373=) c.13116G>T (p.Leu4372=) c.13068G>T (p.Leu4356=) c.13056G>T (p.Leu4352=) c.12918G>T (p.Leu4306=) c.12765G>T (p.Leu4255=) | |
X | g.53534561C= | CA2429869105 | HUWE1 | c.12570G= (p.Leu4190=) c.12786G= (p.Leu4262=) c.3253G= n.99G= c.12759G= (p.Leu4253=) c.13035G= (p.Leu4345=) c.13032G= (p.Leu4344=) c.12990G= (p.Leu4330=) c.12987G= (p.Leu4329=) c.12984G= (p.Leu4328=) c.12936G= (p.Leu4312=) c.12633G= (p.Leu4211=) c.13167G= (p.Leu4389=) c.13164G= (p.Leu4388=) c.13146G= (p.Leu4382=) c.13122G= (p.Leu4374=) c.13119G= (p.Leu4373=) c.13116G= (p.Leu4372=) c.13068G= (p.Leu4356=) c.13056G= (p.Leu4352=) c.12918G= (p.Leu4306=) c.12765G= (p.Leu4255=) | |
X | g.53534561C>G | CA516420380 | HUWE1 | c.12570G>C (p.Leu4190=) c.12786G>C (p.Leu4262=) c.3253G>C n.99G>C c.12759G>C (p.Leu4253=) c.13035G>C (p.Leu4345=) c.13032G>C (p.Leu4344=) c.12990G>C (p.Leu4330=) c.12987G>C (p.Leu4329=) c.12984G>C (p.Leu4328=) c.12936G>C (p.Leu4312=) c.12633G>C (p.Leu4211=) c.13167G>C (p.Leu4389=) c.13164G>C (p.Leu4388=) c.13146G>C (p.Leu4382=) c.13122G>C (p.Leu4374=) c.13119G>C (p.Leu4373=) c.13116G>C (p.Leu4372=) c.13068G>C (p.Leu4356=) c.13056G>C (p.Leu4352=) c.12918G>C (p.Leu4306=) c.12765G>C (p.Leu4255=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53534561C>T | CA516420383 | HUWE1 | c.12570G>A (p.Leu4190=) c.12786G>A (p.Leu4262=) c.3253G>A n.99G>A c.12759G>A (p.Leu4253=) c.13035G>A (p.Leu4345=) c.13032G>A (p.Leu4344=) c.12990G>A (p.Leu4330=) c.12987G>A (p.Leu4329=) c.12984G>A (p.Leu4328=) c.12936G>A (p.Leu4312=) c.12633G>A (p.Leu4211=) c.13167G>A (p.Leu4389=) c.13164G>A (p.Leu4388=) c.13146G>A (p.Leu4382=) c.13122G>A (p.Leu4374=) c.13119G>A (p.Leu4373=) c.13116G>A (p.Leu4372=) c.13068G>A (p.Leu4356=) c.13056G>A (p.Leu4352=) c.12918G>A (p.Leu4306=) c.12765G>A (p.Leu4255=) | |
X | g.53534562A>C | CA413146147 | HUWE1 | c.12569T>G (p.Leu4190Arg) c.12785T>G (p.Leu4262Arg) c.3252T>G n.98T>G c.12758T>G (p.Leu4253Arg) c.13034T>G (p.Leu4345Arg) c.13031T>G (p.Leu4344Arg) c.12989T>G (p.Leu4330Arg) c.12986T>G (p.Leu4329Arg) c.12983T>G (p.Leu4328Arg) c.12935T>G (p.Leu4312Arg) c.12632T>G (p.Leu4211Arg) c.13166T>G (p.Leu4389Arg) c.13163T>G (p.Leu4388Arg) c.13145T>G (p.Leu4382Arg) c.13121T>G (p.Leu4374Arg) c.13118T>G (p.Leu4373Arg) c.13115T>G (p.Leu4372Arg) c.13067T>G (p.Leu4356Arg) c.13055T>G (p.Leu4352Arg) c.12917T>G (p.Leu4306Arg) c.12764T>G (p.Leu4255Arg) | |
X | g.53534562A>G | CA413146148 | HUWE1 | c.12569T>C (p.Leu4190Pro) c.12785T>C (p.Leu4262Pro) c.3252T>C n.98T>C c.12758T>C (p.Leu4253Pro) c.13034T>C (p.Leu4345Pro) c.13031T>C (p.Leu4344Pro) c.12989T>C (p.Leu4330Pro) c.12986T>C (p.Leu4329Pro) c.12983T>C (p.Leu4328Pro) c.12935T>C (p.Leu4312Pro) c.12632T>C (p.Leu4211Pro) c.13166T>C (p.Leu4389Pro) c.13163T>C (p.Leu4388Pro) c.13145T>C (p.Leu4382Pro) c.13121T>C (p.Leu4374Pro) c.13118T>C (p.Leu4373Pro) c.13115T>C (p.Leu4372Pro) c.13067T>C (p.Leu4356Pro) c.13055T>C (p.Leu4352Pro) c.12917T>C (p.Leu4306Pro) c.12764T>C (p.Leu4255Pro) | |
X | g.53534562A>T | CA413146149 | HUWE1 | c.12569T>A (p.Leu4190Gln) c.12785T>A (p.Leu4262Gln) c.3252T>A n.98T>A c.12758T>A (p.Leu4253Gln) c.13034T>A (p.Leu4345Gln) c.13031T>A (p.Leu4344Gln) c.12989T>A (p.Leu4330Gln) c.12986T>A (p.Leu4329Gln) c.12983T>A (p.Leu4328Gln) c.12935T>A (p.Leu4312Gln) c.12632T>A (p.Leu4211Gln) c.13166T>A (p.Leu4389Gln) c.13163T>A (p.Leu4388Gln) c.13145T>A (p.Leu4382Gln) c.13121T>A (p.Leu4374Gln) c.13118T>A (p.Leu4373Gln) c.13115T>A (p.Leu4372Gln) c.13067T>A (p.Leu4356Gln) c.13055T>A (p.Leu4352Gln) c.12917T>A (p.Leu4306Gln) c.12764T>A (p.Leu4255Gln) | |
X | g.53534563G>A | CA516420389 | HUWE1 | c.12568C>T (p.Leu4190=) c.12784C>T (p.Leu4262=) c.3251C>T n.97C>T c.12757C>T (p.Leu4253=) c.13033C>T (p.Leu4345=) c.13030C>T (p.Leu4344=) c.12988C>T (p.Leu4330=) c.12985C>T (p.Leu4329=) c.12982C>T (p.Leu4328=) c.12934C>T (p.Leu4312=) c.12631C>T (p.Leu4211=) c.13165C>T (p.Leu4389=) c.13162C>T (p.Leu4388=) c.13144C>T (p.Leu4382=) c.13120C>T (p.Leu4374=) c.13117C>T (p.Leu4373=) c.13114C>T (p.Leu4372=) c.13066C>T (p.Leu4356=) c.13054C>T (p.Leu4352=) c.12916C>T (p.Leu4306=) c.12763C>T (p.Leu4255=) | gnomAD v4 |
X | g.53534563G>C | CA413146151 | HUWE1 | c.12568C>G (p.Leu4190Val) c.12784C>G (p.Leu4262Val) c.3251C>G n.97C>G c.12757C>G (p.Leu4253Val) c.13033C>G (p.Leu4345Val) c.13030C>G (p.Leu4344Val) c.12988C>G (p.Leu4330Val) c.12985C>G (p.Leu4329Val) c.12982C>G (p.Leu4328Val) c.12934C>G (p.Leu4312Val) c.12631C>G (p.Leu4211Val) c.13165C>G (p.Leu4389Val) c.13162C>G (p.Leu4388Val) c.13144C>G (p.Leu4382Val) c.13120C>G (p.Leu4374Val) c.13117C>G (p.Leu4373Val) c.13114C>G (p.Leu4372Val) c.13066C>G (p.Leu4356Val) c.13054C>G (p.Leu4352Val) c.12916C>G (p.Leu4306Val) c.12763C>G (p.Leu4255Val) | |
X | g.53534563G>T | CA413146154 | HUWE1 | c.12568C>A (p.Leu4190Met) c.12784C>A (p.Leu4262Met) c.3251C>A n.97C>A c.12757C>A (p.Leu4253Met) c.13033C>A (p.Leu4345Met) c.13030C>A (p.Leu4344Met) c.12988C>A (p.Leu4330Met) c.12985C>A (p.Leu4329Met) c.12982C>A (p.Leu4328Met) c.12934C>A (p.Leu4312Met) c.12631C>A (p.Leu4211Met) c.13165C>A (p.Leu4389Met) c.13162C>A (p.Leu4388Met) c.13144C>A (p.Leu4382Met) c.13120C>A (p.Leu4374Met) c.13117C>A (p.Leu4373Met) c.13114C>A (p.Leu4372Met) c.13066C>A (p.Leu4356Met) c.13054C>A (p.Leu4352Met) c.12916C>A (p.Leu4306Met) c.12763C>A (p.Leu4255Met) | |
X | g.53534564A>C | CA413146155 | HUWE1 | c.12567T>G (p.Asp4189Glu) c.12783T>G (p.Asp4261Glu) c.3250T>G n.96T>G c.12756T>G (p.Asp4252Glu) c.13032T>G (p.Asp4344Glu) c.13029T>G (p.Asp4343Glu) c.12987T>G (p.Asp4329Glu) c.12984T>G (p.Asp4328Glu) c.12981T>G (p.Asp4327Glu) c.12933T>G (p.Asp4311Glu) c.12630T>G (p.Asp4210Glu) c.13164T>G (p.Asp4388Glu) c.13161T>G (p.Asp4387Glu) c.13143T>G (p.Asp4381Glu) c.13119T>G (p.Asp4373Glu) c.13116T>G (p.Asp4372Glu) c.13113T>G (p.Asp4371Glu) c.13065T>G (p.Asp4355Glu) c.13053T>G (p.Asp4351Glu) c.12915T>G (p.Asp4305Glu) c.12762T>G (p.Asp4254Glu) | |
X | g.53534564A>G | CA516420397 | HUWE1 | c.12567T>C (p.Asp4189=) c.12783T>C (p.Asp4261=) c.3250T>C n.96T>C c.12756T>C (p.Asp4252=) c.13032T>C (p.Asp4344=) c.13029T>C (p.Asp4343=) c.12987T>C (p.Asp4329=) c.12984T>C (p.Asp4328=) c.12981T>C (p.Asp4327=) c.12933T>C (p.Asp4311=) c.12630T>C (p.Asp4210=) c.13164T>C (p.Asp4388=) c.13161T>C (p.Asp4387=) c.13143T>C (p.Asp4381=) c.13119T>C (p.Asp4373=) c.13116T>C (p.Asp4372=) c.13113T>C (p.Asp4371=) c.13065T>C (p.Asp4355=) c.13053T>C (p.Asp4351=) c.12915T>C (p.Asp4305=) c.12762T>C (p.Asp4254=) | COSMIC COSMIC |
X | g.53534564A>T | CA413146156 | HUWE1 | c.12567T>A (p.Asp4189Glu) c.12783T>A (p.Asp4261Glu) c.3250T>A n.96T>A c.12756T>A (p.Asp4252Glu) c.13032T>A (p.Asp4344Glu) c.13029T>A (p.Asp4343Glu) c.12987T>A (p.Asp4329Glu) c.12984T>A (p.Asp4328Glu) c.12981T>A (p.Asp4327Glu) c.12933T>A (p.Asp4311Glu) c.12630T>A (p.Asp4210Glu) c.13164T>A (p.Asp4388Glu) c.13161T>A (p.Asp4387Glu) c.13143T>A (p.Asp4381Glu) c.13119T>A (p.Asp4373Glu) c.13116T>A (p.Asp4372Glu) c.13113T>A (p.Asp4371Glu) c.13065T>A (p.Asp4355Glu) c.13053T>A (p.Asp4351Glu) c.12915T>A (p.Asp4305Glu) c.12762T>A (p.Asp4254Glu) | |
X | g.53534565T>A | CA413146159 | HUWE1 | c.12566A>T (p.Asp4189Val) c.12782A>T (p.Asp4261Val) c.3249A>T n.95A>T c.12755A>T (p.Asp4252Val) c.13031A>T (p.Asp4344Val) c.13028A>T (p.Asp4343Val) c.12986A>T (p.Asp4329Val) c.12983A>T (p.Asp4328Val) c.12980A>T (p.Asp4327Val) c.12932A>T (p.Asp4311Val) c.12629A>T (p.Asp4210Val) c.13163A>T (p.Asp4388Val) c.13160A>T (p.Asp4387Val) c.13142A>T (p.Asp4381Val) c.13118A>T (p.Asp4373Val) c.13115A>T (p.Asp4372Val) c.13112A>T (p.Asp4371Val) c.13064A>T (p.Asp4355Val) c.13052A>T (p.Asp4351Val) c.12914A>T (p.Asp4305Val) c.12761A>T (p.Asp4254Val) | |
X | g.53534565T>C | CA413146162 | HUWE1 | c.12566A>G (p.Asp4189Gly) c.12782A>G (p.Asp4261Gly) c.3249A>G n.95A>G c.12755A>G (p.Asp4252Gly) c.13031A>G (p.Asp4344Gly) c.13028A>G (p.Asp4343Gly) c.12986A>G (p.Asp4329Gly) c.12983A>G (p.Asp4328Gly) c.12980A>G (p.Asp4327Gly) c.12932A>G (p.Asp4311Gly) c.12629A>G (p.Asp4210Gly) c.13163A>G (p.Asp4388Gly) c.13160A>G (p.Asp4387Gly) c.13142A>G (p.Asp4381Gly) c.13118A>G (p.Asp4373Gly) c.13115A>G (p.Asp4372Gly) c.13112A>G (p.Asp4371Gly) c.13064A>G (p.Asp4355Gly) c.13052A>G (p.Asp4351Gly) c.12914A>G (p.Asp4305Gly) c.12761A>G (p.Asp4254Gly) | |
X | g.53534565T>G | CA329183503 | HUWE1 | c.12566A>C (p.Asp4189Ala) c.12782A>C (p.Asp4261Ala) c.3249A>C n.95A>C c.12755A>C (p.Asp4252Ala) c.13031A>C (p.Asp4344Ala) c.13028A>C (p.Asp4343Ala) c.12986A>C (p.Asp4329Ala) c.12983A>C (p.Asp4328Ala) c.12980A>C (p.Asp4327Ala) c.12932A>C (p.Asp4311Ala) c.12629A>C (p.Asp4210Ala) c.13163A>C (p.Asp4388Ala) c.13160A>C (p.Asp4387Ala) c.13142A>C (p.Asp4381Ala) c.13118A>C (p.Asp4373Ala) c.13115A>C (p.Asp4372Ala) c.13112A>C (p.Asp4371Ala) c.13064A>C (p.Asp4355Ala) c.13052A>C (p.Asp4351Ala) c.12914A>C (p.Asp4305Ala) c.12761A>C (p.Asp4254Ala) | ClinVar dbSNP |
X | g.53534565T= | CA2429869106 | HUWE1 | c.12566A= (p.Asp4189=) c.12782A= (p.Asp4261=) c.3249A= n.95A= c.12755A= (p.Asp4252=) c.13031A= (p.Asp4344=) c.13028A= (p.Asp4343=) c.12986A= (p.Asp4329=) c.12983A= (p.Asp4328=) c.12980A= (p.Asp4327=) c.12932A= (p.Asp4311=) c.12629A= (p.Asp4210=) c.13163A= (p.Asp4388=) c.13160A= (p.Asp4387=) c.13142A= (p.Asp4381=) c.13118A= (p.Asp4373=) c.13115A= (p.Asp4372=) c.13112A= (p.Asp4371=) c.13064A= (p.Asp4355=) c.13052A= (p.Asp4351=) c.12914A= (p.Asp4305=) c.12761A= (p.Asp4254=) | |
X | g.53534566C>A | CA413146180 | HUWE1 | c.12565G>T (p.Asp4189Tyr) c.12781G>T (p.Asp4261Tyr) c.3248G>T n.94G>T c.12754G>T (p.Asp4252Tyr) c.13030G>T (p.Asp4344Tyr) c.13027G>T (p.Asp4343Tyr) c.12985G>T (p.Asp4329Tyr) c.12982G>T (p.Asp4328Tyr) c.12979G>T (p.Asp4327Tyr) c.12931G>T (p.Asp4311Tyr) c.12628G>T (p.Asp4210Tyr) c.13162G>T (p.Asp4388Tyr) c.13159G>T (p.Asp4387Tyr) c.13141G>T (p.Asp4381Tyr) c.13117G>T (p.Asp4373Tyr) c.13114G>T (p.Asp4372Tyr) c.13111G>T (p.Asp4371Tyr) c.13063G>T (p.Asp4355Tyr) c.13051G>T (p.Asp4351Tyr) c.12913G>T (p.Asp4305Tyr) c.12760G>T (p.Asp4254Tyr) | |
X | g.53534566C= | CA2429869107 | HUWE1 | c.12565G= (p.Asp4189=) c.12781G= (p.Asp4261=) c.3248G= n.94G= c.12754G= (p.Asp4252=) c.13030G= (p.Asp4344=) c.13027G= (p.Asp4343=) c.12985G= (p.Asp4329=) c.12982G= (p.Asp4328=) c.12979G= (p.Asp4327=) c.12931G= (p.Asp4311=) c.12628G= (p.Asp4210=) c.13162G= (p.Asp4388=) c.13159G= (p.Asp4387=) c.13141G= (p.Asp4381=) c.13117G= (p.Asp4373=) c.13114G= (p.Asp4372=) c.13111G= (p.Asp4371=) c.13063G= (p.Asp4355=) c.13051G= (p.Asp4351=) c.12913G= (p.Asp4305=) c.12760G= (p.Asp4254=) | |
X | g.53534566C>G | CA413146174 | HUWE1 | c.12565G>C (p.Asp4189His) c.12781G>C (p.Asp4261His) c.3248G>C n.94G>C c.12754G>C (p.Asp4252His) c.13030G>C (p.Asp4344His) c.13027G>C (p.Asp4343His) c.12985G>C (p.Asp4329His) c.12982G>C (p.Asp4328His) c.12979G>C (p.Asp4327His) c.12931G>C (p.Asp4311His) c.12628G>C (p.Asp4210His) c.13162G>C (p.Asp4388His) c.13159G>C (p.Asp4387His) c.13141G>C (p.Asp4381His) c.13117G>C (p.Asp4373His) c.13114G>C (p.Asp4372His) c.13111G>C (p.Asp4371His) c.13063G>C (p.Asp4355His) c.13051G>C (p.Asp4351His) c.12913G>C (p.Asp4305His) c.12760G>C (p.Asp4254His) | |
X | g.53534566C>T | CA413146171 | HUWE1 | c.12565G>A (p.Asp4189Asn) c.12781G>A (p.Asp4261Asn) c.3248G>A n.94G>A c.12754G>A (p.Asp4252Asn) c.13030G>A (p.Asp4344Asn) c.13027G>A (p.Asp4343Asn) c.12985G>A (p.Asp4329Asn) c.12982G>A (p.Asp4328Asn) c.12979G>A (p.Asp4327Asn) c.12931G>A (p.Asp4311Asn) c.12628G>A (p.Asp4210Asn) c.13162G>A (p.Asp4388Asn) c.13159G>A (p.Asp4387Asn) c.13141G>A (p.Asp4381Asn) c.13117G>A (p.Asp4373Asn) c.13114G>A (p.Asp4372Asn) c.13111G>A (p.Asp4371Asn) c.13063G>A (p.Asp4355Asn) c.13051G>A (p.Asp4351Asn) c.12913G>A (p.Asp4305Asn) c.12760G>A (p.Asp4254Asn) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53534567A>C | CA413146190 | HUWE1 | c.12564T>G (p.Asp4188Glu) c.12780T>G (p.Asp4260Glu) c.3247T>G n.93T>G c.12753T>G (p.Asp4251Glu) c.13029T>G (p.Asp4343Glu) c.13026T>G (p.Asp4342Glu) c.12984T>G (p.Asp4328Glu) c.12981T>G (p.Asp4327Glu) c.12978T>G (p.Asp4326Glu) c.12930T>G (p.Asp4310Glu) c.12627T>G (p.Asp4209Glu) c.13161T>G (p.Asp4387Glu) c.13158T>G (p.Asp4386Glu) c.13140T>G (p.Asp4380Glu) c.13116T>G (p.Asp4372Glu) c.13113T>G (p.Asp4371Glu) c.13110T>G (p.Asp4370Glu) c.13062T>G (p.Asp4354Glu) c.13050T>G (p.Asp4350Glu) c.12912T>G (p.Asp4304Glu) c.12759T>G (p.Asp4253Glu) | |
X | g.53534567A>G | CA516420410 | HUWE1 | c.12564T>C (p.Asp4188=) c.12780T>C (p.Asp4260=) c.3247T>C n.93T>C c.12753T>C (p.Asp4251=) c.13029T>C (p.Asp4343=) c.13026T>C (p.Asp4342=) c.12984T>C (p.Asp4328=) c.12981T>C (p.Asp4327=) c.12978T>C (p.Asp4326=) c.12930T>C (p.Asp4310=) c.12627T>C (p.Asp4209=) c.13161T>C (p.Asp4387=) c.13158T>C (p.Asp4386=) c.13140T>C (p.Asp4380=) c.13116T>C (p.Asp4372=) c.13113T>C (p.Asp4371=) c.13110T>C (p.Asp4370=) c.13062T>C (p.Asp4354=) c.13050T>C (p.Asp4350=) c.12912T>C (p.Asp4304=) c.12759T>C (p.Asp4253=) | |
X | g.53534567A>T | CA413146194 | HUWE1 | c.12564T>A (p.Asp4188Glu) c.12780T>A (p.Asp4260Glu) c.3247T>A n.93T>A c.12753T>A (p.Asp4251Glu) c.13029T>A (p.Asp4343Glu) c.13026T>A (p.Asp4342Glu) c.12984T>A (p.Asp4328Glu) c.12981T>A (p.Asp4327Glu) c.12978T>A (p.Asp4326Glu) c.12930T>A (p.Asp4310Glu) c.12627T>A (p.Asp4209Glu) c.13161T>A (p.Asp4387Glu) c.13158T>A (p.Asp4386Glu) c.13140T>A (p.Asp4380Glu) c.13116T>A (p.Asp4372Glu) c.13113T>A (p.Asp4371Glu) c.13110T>A (p.Asp4370Glu) c.13062T>A (p.Asp4354Glu) c.13050T>A (p.Asp4350Glu) c.12912T>A (p.Asp4304Glu) c.12759T>A (p.Asp4253Glu) | |
X | g.53534568T>A | CA413146200 | HUWE1 | c.12563A>T (p.Asp4188Val) c.12779A>T (p.Asp4260Val) c.3246A>T n.92A>T c.12752A>T (p.Asp4251Val) c.13028A>T (p.Asp4343Val) c.13025A>T (p.Asp4342Val) c.12983A>T (p.Asp4328Val) c.12980A>T (p.Asp4327Val) c.12977A>T (p.Asp4326Val) c.12929A>T (p.Asp4310Val) c.12626A>T (p.Asp4209Val) c.13160A>T (p.Asp4387Val) c.13157A>T (p.Asp4386Val) c.13139A>T (p.Asp4380Val) c.13115A>T (p.Asp4372Val) c.13112A>T (p.Asp4371Val) c.13109A>T (p.Asp4370Val) c.13061A>T (p.Asp4354Val) c.13049A>T (p.Asp4350Val) c.12911A>T (p.Asp4304Val) c.12758A>T (p.Asp4253Val) | |
X | g.53534568T>C | CA413146201 | HUWE1 | c.12563A>G (p.Asp4188Gly) c.12779A>G (p.Asp4260Gly) c.3246A>G n.92A>G c.12752A>G (p.Asp4251Gly) c.13028A>G (p.Asp4343Gly) c.13025A>G (p.Asp4342Gly) c.12983A>G (p.Asp4328Gly) c.12980A>G (p.Asp4327Gly) c.12977A>G (p.Asp4326Gly) c.12929A>G (p.Asp4310Gly) c.12626A>G (p.Asp4209Gly) c.13160A>G (p.Asp4387Gly) c.13157A>G (p.Asp4386Gly) c.13139A>G (p.Asp4380Gly) c.13115A>G (p.Asp4372Gly) c.13112A>G (p.Asp4371Gly) c.13109A>G (p.Asp4370Gly) c.13061A>G (p.Asp4354Gly) c.13049A>G (p.Asp4350Gly) c.12911A>G (p.Asp4304Gly) c.12758A>G (p.Asp4253Gly) | gnomAD v4 |
X | g.53534568T>G | CA413146207 | HUWE1 | c.12563A>C (p.Asp4188Ala) c.12779A>C (p.Asp4260Ala) c.3246A>C n.92A>C c.12752A>C (p.Asp4251Ala) c.13028A>C (p.Asp4343Ala) c.13025A>C (p.Asp4342Ala) c.12983A>C (p.Asp4328Ala) c.12980A>C (p.Asp4327Ala) c.12977A>C (p.Asp4326Ala) c.12929A>C (p.Asp4310Ala) c.12626A>C (p.Asp4209Ala) c.13160A>C (p.Asp4387Ala) c.13157A>C (p.Asp4386Ala) c.13139A>C (p.Asp4380Ala) c.13115A>C (p.Asp4372Ala) c.13112A>C (p.Asp4371Ala) c.13109A>C (p.Asp4370Ala) c.13061A>C (p.Asp4354Ala) c.13049A>C (p.Asp4350Ala) c.12911A>C (p.Asp4304Ala) c.12758A>C (p.Asp4253Ala) | |
X | g.53534569C>A | CA413146211 | HUWE1 | c.12562G>T (p.Asp4188Tyr) c.12778G>T (p.Asp4260Tyr) c.3245G>T n.91G>T c.12751G>T (p.Asp4251Tyr) c.13027G>T (p.Asp4343Tyr) c.13024G>T (p.Asp4342Tyr) c.12982G>T (p.Asp4328Tyr) c.12979G>T (p.Asp4327Tyr) c.12976G>T (p.Asp4326Tyr) c.12928G>T (p.Asp4310Tyr) c.12625G>T (p.Asp4209Tyr) c.13159G>T (p.Asp4387Tyr) c.13156G>T (p.Asp4386Tyr) c.13138G>T (p.Asp4380Tyr) c.13114G>T (p.Asp4372Tyr) c.13111G>T (p.Asp4371Tyr) c.13108G>T (p.Asp4370Tyr) c.13060G>T (p.Asp4354Tyr) c.13048G>T (p.Asp4350Tyr) c.12910G>T (p.Asp4304Tyr) c.12757G>T (p.Asp4253Tyr) | |
X | g.53534569C= | CA2429869108 | HUWE1 | c.12562G= (p.Asp4188=) c.12778G= (p.Asp4260=) c.3245G= n.91G= c.12751G= (p.Asp4251=) c.13027G= (p.Asp4343=) c.13024G= (p.Asp4342=) c.12982G= (p.Asp4328=) c.12979G= (p.Asp4327=) c.12976G= (p.Asp4326=) c.12928G= (p.Asp4310=) c.12625G= (p.Asp4209=) c.13159G= (p.Asp4387=) c.13156G= (p.Asp4386=) c.13138G= (p.Asp4380=) c.13114G= (p.Asp4372=) c.13111G= (p.Asp4371=) c.13108G= (p.Asp4370=) c.13060G= (p.Asp4354=) c.13048G= (p.Asp4350=) c.12910G= (p.Asp4304=) c.12757G= (p.Asp4253=) | |
X | g.53534569C>G | CA413146212 | HUWE1 | c.12562G>C (p.Asp4188His) c.12778G>C (p.Asp4260His) c.3245G>C n.91G>C c.12751G>C (p.Asp4251His) c.13027G>C (p.Asp4343His) c.13024G>C (p.Asp4342His) c.12982G>C (p.Asp4328His) c.12979G>C (p.Asp4327His) c.12976G>C (p.Asp4326His) c.12928G>C (p.Asp4310His) c.12625G>C (p.Asp4209His) c.13159G>C (p.Asp4387His) c.13156G>C (p.Asp4386His) c.13138G>C (p.Asp4380His) c.13114G>C (p.Asp4372His) c.13111G>C (p.Asp4371His) c.13108G>C (p.Asp4370His) c.13060G>C (p.Asp4354His) c.13048G>C (p.Asp4350His) c.12910G>C (p.Asp4304His) c.12757G>C (p.Asp4253His) | |
X | g.53534569C>T | CA413146213 | HUWE1 | c.12562G>A (p.Asp4188Asn) c.12778G>A (p.Asp4260Asn) c.3245G>A n.91G>A c.12751G>A (p.Asp4251Asn) c.13027G>A (p.Asp4343Asn) c.13024G>A (p.Asp4342Asn) c.12982G>A (p.Asp4328Asn) c.12979G>A (p.Asp4327Asn) c.12976G>A (p.Asp4326Asn) c.12928G>A (p.Asp4310Asn) c.12625G>A (p.Asp4209Asn) c.13159G>A (p.Asp4387Asn) c.13156G>A (p.Asp4386Asn) c.13138G>A (p.Asp4380Asn) c.13114G>A (p.Asp4372Asn) c.13111G>A (p.Asp4371Asn) c.13108G>A (p.Asp4370Asn) c.13060G>A (p.Asp4354Asn) c.13048G>A (p.Asp4350Asn) c.12910G>A (p.Asp4304Asn) c.12757G>A (p.Asp4253Asn) | ClinVar dbSNP gnomAD v4 |
X | g.53534570G>A | CA10421144 | HUWE1 | c.12561C>T (p.Ile4187=) c.12777C>T (p.Ile4259=) c.3244C>T n.90C>T c.12750C>T (p.Ile4250=) c.13026C>T (p.Ile4342=) c.13023C>T (p.Ile4341=) c.12981C>T (p.Ile4327=) c.12978C>T (p.Ile4326=) c.12975C>T (p.Ile4325=) c.12927C>T (p.Ile4309=) c.12624C>T (p.Ile4208=) c.13158C>T (p.Ile4386=) c.13155C>T (p.Ile4385=) c.13137C>T (p.Ile4379=) c.13113C>T (p.Ile4371=) c.13110C>T (p.Ile4370=) c.13107C>T (p.Ile4369=) c.13059C>T (p.Ile4353=) c.13047C>T (p.Ile4349=) c.12909C>T (p.Ile4303=) c.12756C>T (p.Ile4252=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.53534570G>C | CA413146225 | HUWE1 | c.12561C>G (p.Ile4187Met) c.12777C>G (p.Ile4259Met) c.3244C>G n.90C>G c.12750C>G (p.Ile4250Met) c.13026C>G (p.Ile4342Met) c.13023C>G (p.Ile4341Met) c.12981C>G (p.Ile4327Met) c.12978C>G (p.Ile4326Met) c.12975C>G (p.Ile4325Met) c.12927C>G (p.Ile4309Met) c.12624C>G (p.Ile4208Met) c.13158C>G (p.Ile4386Met) c.13155C>G (p.Ile4385Met) c.13137C>G (p.Ile4379Met) c.13113C>G (p.Ile4371Met) c.13110C>G (p.Ile4370Met) c.13107C>G (p.Ile4369Met) c.13059C>G (p.Ile4353Met) c.13047C>G (p.Ile4349Met) c.12909C>G (p.Ile4303Met) c.12756C>G (p.Ile4252Met) | |
X | g.53534570G= | CA2429869109 | HUWE1 | c.12561C= (p.Ile4187=) c.12777C= (p.Ile4259=) c.3244C= n.90C= c.12750C= (p.Ile4250=) c.13026C= (p.Ile4342=) c.13023C= (p.Ile4341=) c.12981C= (p.Ile4327=) c.12978C= (p.Ile4326=) c.12975C= (p.Ile4325=) c.12927C= (p.Ile4309=) c.12624C= (p.Ile4208=) c.13158C= (p.Ile4386=) c.13155C= (p.Ile4385=) c.13137C= (p.Ile4379=) c.13113C= (p.Ile4371=) c.13110C= (p.Ile4370=) c.13107C= (p.Ile4369=) c.13059C= (p.Ile4353=) c.13047C= (p.Ile4349=) c.12909C= (p.Ile4303=) c.12756C= (p.Ile4252=) | |
X | g.53534570G>T | CA10421145 | HUWE1 | c.12561C>A (p.Ile4187=) c.12777C>A (p.Ile4259=) c.3244C>A n.90C>A c.12750C>A (p.Ile4250=) c.13026C>A (p.Ile4342=) c.13023C>A (p.Ile4341=) c.12981C>A (p.Ile4327=) c.12978C>A (p.Ile4326=) c.12975C>A (p.Ile4325=) c.12927C>A (p.Ile4309=) c.12624C>A (p.Ile4208=) c.13158C>A (p.Ile4386=) c.13155C>A (p.Ile4385=) c.13137C>A (p.Ile4379=) c.13113C>A (p.Ile4371=) c.13110C>A (p.Ile4370=) c.13107C>A (p.Ile4369=) c.13059C>A (p.Ile4353=) c.13047C>A (p.Ile4349=) c.12909C>A (p.Ile4303=) c.12756C>A (p.Ile4252=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53534571A>C | CA413146232 | HUWE1 | c.12560T>G (p.Ile4187Ser) c.12776T>G (p.Ile4259Ser) c.3243T>G n.89T>G c.12749T>G (p.Ile4250Ser) c.13025T>G (p.Ile4342Ser) c.13022T>G (p.Ile4341Ser) c.12980T>G (p.Ile4327Ser) c.12977T>G (p.Ile4326Ser) c.12974T>G (p.Ile4325Ser) c.12926T>G (p.Ile4309Ser) c.12623T>G (p.Ile4208Ser) c.13157T>G (p.Ile4386Ser) c.13154T>G (p.Ile4385Ser) c.13136T>G (p.Ile4379Ser) c.13112T>G (p.Ile4371Ser) c.13109T>G (p.Ile4370Ser) c.13106T>G (p.Ile4369Ser) c.13058T>G (p.Ile4353Ser) c.13046T>G (p.Ile4349Ser) c.12908T>G (p.Ile4303Ser) c.12755T>G (p.Ile4252Ser) | |
X | g.53534571A>G | CA413146237 | HUWE1 | c.12560T>C (p.Ile4187Thr) c.12776T>C (p.Ile4259Thr) c.3243T>C n.89T>C c.12749T>C (p.Ile4250Thr) c.13025T>C (p.Ile4342Thr) c.13022T>C (p.Ile4341Thr) c.12980T>C (p.Ile4327Thr) c.12977T>C (p.Ile4326Thr) c.12974T>C (p.Ile4325Thr) c.12926T>C (p.Ile4309Thr) c.12623T>C (p.Ile4208Thr) c.13157T>C (p.Ile4386Thr) c.13154T>C (p.Ile4385Thr) c.13136T>C (p.Ile4379Thr) c.13112T>C (p.Ile4371Thr) c.13109T>C (p.Ile4370Thr) c.13106T>C (p.Ile4369Thr) c.13058T>C (p.Ile4353Thr) c.13046T>C (p.Ile4349Thr) c.12908T>C (p.Ile4303Thr) c.12755T>C (p.Ile4252Thr) | |
X | g.53534571A>T | CA413146241 | HUWE1 | c.12560T>A (p.Ile4187Asn) c.12776T>A (p.Ile4259Asn) c.3243T>A n.89T>A c.12749T>A (p.Ile4250Asn) c.13025T>A (p.Ile4342Asn) c.13022T>A (p.Ile4341Asn) c.12980T>A (p.Ile4327Asn) c.12977T>A (p.Ile4326Asn) c.12974T>A (p.Ile4325Asn) c.12926T>A (p.Ile4309Asn) c.12623T>A (p.Ile4208Asn) c.13157T>A (p.Ile4386Asn) c.13154T>A (p.Ile4385Asn) c.13136T>A (p.Ile4379Asn) c.13112T>A (p.Ile4371Asn) c.13109T>A (p.Ile4370Asn) c.13106T>A (p.Ile4369Asn) c.13058T>A (p.Ile4353Asn) c.13046T>A (p.Ile4349Asn) c.12908T>A (p.Ile4303Asn) c.12755T>A (p.Ile4252Asn) | |
X | g.53534572T>A | CA413146260 | HUWE1 | c.12559A>T (p.Ile4187Phe) c.12775A>T (p.Ile4259Phe) c.3242A>T n.88A>T c.12748A>T (p.Ile4250Phe) c.13024A>T (p.Ile4342Phe) c.13021A>T (p.Ile4341Phe) c.12979A>T (p.Ile4327Phe) c.12976A>T (p.Ile4326Phe) c.12973A>T (p.Ile4325Phe) c.12925A>T (p.Ile4309Phe) c.12622A>T (p.Ile4208Phe) c.13156A>T (p.Ile4386Phe) c.13153A>T (p.Ile4385Phe) c.13135A>T (p.Ile4379Phe) c.13111A>T (p.Ile4371Phe) c.13108A>T (p.Ile4370Phe) c.13105A>T (p.Ile4369Phe) c.13057A>T (p.Ile4353Phe) c.13045A>T (p.Ile4349Phe) c.12907A>T (p.Ile4303Phe) c.12754A>T (p.Ile4252Phe) | |
X | g.53534572T>C | CA413146262 | HUWE1 | c.12559A>G (p.Ile4187Val) c.12775A>G (p.Ile4259Val) c.3242A>G n.88A>G c.12748A>G (p.Ile4250Val) c.13024A>G (p.Ile4342Val) c.13021A>G (p.Ile4341Val) c.12979A>G (p.Ile4327Val) c.12976A>G (p.Ile4326Val) c.12973A>G (p.Ile4325Val) c.12925A>G (p.Ile4309Val) c.12622A>G (p.Ile4208Val) c.13156A>G (p.Ile4386Val) c.13153A>G (p.Ile4385Val) c.13135A>G (p.Ile4379Val) c.13111A>G (p.Ile4371Val) c.13108A>G (p.Ile4370Val) c.13105A>G (p.Ile4369Val) c.13057A>G (p.Ile4353Val) c.13045A>G (p.Ile4349Val) c.12907A>G (p.Ile4303Val) c.12754A>G (p.Ile4252Val) | COSMIC COSMIC |
X | g.53534572T>G | CA413146257 | HUWE1 | c.12559A>C (p.Ile4187Leu) c.12775A>C (p.Ile4259Leu) c.3242A>C n.88A>C c.12748A>C (p.Ile4250Leu) c.13024A>C (p.Ile4342Leu) c.13021A>C (p.Ile4341Leu) c.12979A>C (p.Ile4327Leu) c.12976A>C (p.Ile4326Leu) c.12973A>C (p.Ile4325Leu) c.12925A>C (p.Ile4309Leu) c.12622A>C (p.Ile4208Leu) c.13156A>C (p.Ile4386Leu) c.13153A>C (p.Ile4385Leu) c.13135A>C (p.Ile4379Leu) c.13111A>C (p.Ile4371Leu) c.13108A>C (p.Ile4370Leu) c.13105A>C (p.Ile4369Leu) c.13057A>C (p.Ile4353Leu) c.13045A>C (p.Ile4349Leu) c.12907A>C (p.Ile4303Leu) c.12754A>C (p.Ile4252Leu) | |
X | g.53534573G>A | CA516420432 | HUWE1 | c.12558C>T (p.Asp4186=) c.12774C>T (p.Asp4258=) c.3241C>T n.87C>T c.12747C>T (p.Asp4249=) c.13023C>T (p.Asp4341=) c.13020C>T (p.Asp4340=) c.12978C>T (p.Asp4326=) c.12975C>T (p.Asp4325=) c.12972C>T (p.Asp4324=) c.12924C>T (p.Asp4308=) c.12621C>T (p.Asp4207=) c.13155C>T (p.Asp4385=) c.13152C>T (p.Asp4384=) c.13134C>T (p.Asp4378=) c.13110C>T (p.Asp4370=) c.13107C>T (p.Asp4369=) c.13104C>T (p.Asp4368=) c.13056C>T (p.Asp4352=) c.13044C>T (p.Asp4348=) c.12906C>T (p.Asp4302=) c.12753C>T (p.Asp4251=) | ClinVar dbSNP gnomAD v4 |
X | g.53534573G>C | CA413146266 | HUWE1 | c.12558C>G (p.Asp4186Glu) c.12774C>G (p.Asp4258Glu) c.3241C>G n.87C>G c.12747C>G (p.Asp4249Glu) c.13023C>G (p.Asp4341Glu) c.13020C>G (p.Asp4340Glu) c.12978C>G (p.Asp4326Glu) c.12975C>G (p.Asp4325Glu) c.12972C>G (p.Asp4324Glu) c.12924C>G (p.Asp4308Glu) c.12621C>G (p.Asp4207Glu) c.13155C>G (p.Asp4385Glu) c.13152C>G (p.Asp4384Glu) c.13134C>G (p.Asp4378Glu) c.13110C>G (p.Asp4370Glu) c.13107C>G (p.Asp4369Glu) c.13104C>G (p.Asp4368Glu) c.13056C>G (p.Asp4352Glu) c.13044C>G (p.Asp4348Glu) c.12906C>G (p.Asp4302Glu) c.12753C>G (p.Asp4251Glu) | |
X | g.53534573G= | CA2429869110 | HUWE1 | c.12558C= (p.Asp4186=) c.12774C= (p.Asp4258=) c.3241C= n.87C= c.12747C= (p.Asp4249=) c.13023C= (p.Asp4341=) c.13020C= (p.Asp4340=) c.12978C= (p.Asp4326=) c.12975C= (p.Asp4325=) c.12972C= (p.Asp4324=) c.12924C= (p.Asp4308=) c.12621C= (p.Asp4207=) c.13155C= (p.Asp4385=) c.13152C= (p.Asp4384=) c.13134C= (p.Asp4378=) c.13110C= (p.Asp4370=) c.13107C= (p.Asp4369=) c.13104C= (p.Asp4368=) c.13056C= (p.Asp4352=) c.13044C= (p.Asp4348=) c.12906C= (p.Asp4302=) c.12753C= (p.Asp4251=) | |
X | g.53534573G>T | CA413146269 | HUWE1 | c.12558C>A (p.Asp4186Glu) c.12774C>A (p.Asp4258Glu) c.3241C>A n.87C>A c.12747C>A (p.Asp4249Glu) c.13023C>A (p.Asp4341Glu) c.13020C>A (p.Asp4340Glu) c.12978C>A (p.Asp4326Glu) c.12975C>A (p.Asp4325Glu) c.12972C>A (p.Asp4324Glu) c.12924C>A (p.Asp4308Glu) c.12621C>A (p.Asp4207Glu) c.13155C>A (p.Asp4385Glu) c.13152C>A (p.Asp4384Glu) c.13134C>A (p.Asp4378Glu) c.13110C>A (p.Asp4370Glu) c.13107C>A (p.Asp4369Glu) c.13104C>A (p.Asp4368Glu) c.13056C>A (p.Asp4352Glu) c.13044C>A (p.Asp4348Glu) c.12906C>A (p.Asp4302Glu) c.12753C>A (p.Asp4251Glu) | |
X | g.53534574T>A | CA413146272 | HUWE1 | c.12557A>T (p.Asp4186Val) c.12773A>T (p.Asp4258Val) c.3240A>T n.86A>T c.12746A>T (p.Asp4249Val) c.13022A>T (p.Asp4341Val) c.13019A>T (p.Asp4340Val) c.12977A>T (p.Asp4326Val) c.12974A>T (p.Asp4325Val) c.12971A>T (p.Asp4324Val) c.12923A>T (p.Asp4308Val) c.12620A>T (p.Asp4207Val) c.13154A>T (p.Asp4385Val) c.13151A>T (p.Asp4384Val) c.13133A>T (p.Asp4378Val) c.13109A>T (p.Asp4370Val) c.13106A>T (p.Asp4369Val) c.13103A>T (p.Asp4368Val) c.13055A>T (p.Asp4352Val) c.13043A>T (p.Asp4348Val) c.12905A>T (p.Asp4302Val) c.12752A>T (p.Asp4251Val) | |
X | g.53534574T>C | CA413146274 | HUWE1 | c.12557A>G (p.Asp4186Gly) c.12773A>G (p.Asp4258Gly) c.3240A>G n.86A>G c.12746A>G (p.Asp4249Gly) c.13022A>G (p.Asp4341Gly) c.13019A>G (p.Asp4340Gly) c.12977A>G (p.Asp4326Gly) c.12974A>G (p.Asp4325Gly) c.12971A>G (p.Asp4324Gly) c.12923A>G (p.Asp4308Gly) c.12620A>G (p.Asp4207Gly) c.13154A>G (p.Asp4385Gly) c.13151A>G (p.Asp4384Gly) c.13133A>G (p.Asp4378Gly) c.13109A>G (p.Asp4370Gly) c.13106A>G (p.Asp4369Gly) c.13103A>G (p.Asp4368Gly) c.13055A>G (p.Asp4352Gly) c.13043A>G (p.Asp4348Gly) c.12905A>G (p.Asp4302Gly) c.12752A>G (p.Asp4251Gly) | |
X | g.53534574T>G | CA413146276 | HUWE1 | c.12557A>C (p.Asp4186Ala) c.12773A>C (p.Asp4258Ala) c.3240A>C n.86A>C c.12746A>C (p.Asp4249Ala) c.13022A>C (p.Asp4341Ala) c.13019A>C (p.Asp4340Ala) c.12977A>C (p.Asp4326Ala) c.12974A>C (p.Asp4325Ala) c.12971A>C (p.Asp4324Ala) c.12923A>C (p.Asp4308Ala) c.12620A>C (p.Asp4207Ala) c.13154A>C (p.Asp4385Ala) c.13151A>C (p.Asp4384Ala) c.13133A>C (p.Asp4378Ala) c.13109A>C (p.Asp4370Ala) c.13106A>C (p.Asp4369Ala) c.13103A>C (p.Asp4368Ala) c.13055A>C (p.Asp4352Ala) c.13043A>C (p.Asp4348Ala) c.12905A>C (p.Asp4302Ala) c.12752A>C (p.Asp4251Ala) | |
X | g.53534575C>A | CA413146279 | HUWE1 | c.12556G>T (p.Asp4186Tyr) c.12772G>T (p.Asp4258Tyr) c.3239G>T n.85G>T c.12745G>T (p.Asp4249Tyr) c.13021G>T (p.Asp4341Tyr) c.13018G>T (p.Asp4340Tyr) c.12976G>T (p.Asp4326Tyr) c.12973G>T (p.Asp4325Tyr) c.12970G>T (p.Asp4324Tyr) c.12922G>T (p.Asp4308Tyr) c.12619G>T (p.Asp4207Tyr) c.13153G>T (p.Asp4385Tyr) c.13150G>T (p.Asp4384Tyr) c.13132G>T (p.Asp4378Tyr) c.13108G>T (p.Asp4370Tyr) c.13105G>T (p.Asp4369Tyr) c.13102G>T (p.Asp4368Tyr) c.13054G>T (p.Asp4352Tyr) c.13042G>T (p.Asp4348Tyr) c.12904G>T (p.Asp4302Tyr) c.12751G>T (p.Asp4251Tyr) | |
X | g.53534575C>G | CA413146282 | HUWE1 | c.12556G>C (p.Asp4186His) c.12772G>C (p.Asp4258His) c.3239G>C n.85G>C c.12745G>C (p.Asp4249His) c.13021G>C (p.Asp4341His) c.13018G>C (p.Asp4340His) c.12976G>C (p.Asp4326His) c.12973G>C (p.Asp4325His) c.12970G>C (p.Asp4324His) c.12922G>C (p.Asp4308His) c.12619G>C (p.Asp4207His) c.13153G>C (p.Asp4385His) c.13150G>C (p.Asp4384His) c.13132G>C (p.Asp4378His) c.13108G>C (p.Asp4370His) c.13105G>C (p.Asp4369His) c.13102G>C (p.Asp4368His) c.13054G>C (p.Asp4352His) c.13042G>C (p.Asp4348His) c.12904G>C (p.Asp4302His) c.12751G>C (p.Asp4251His) | |
X | g.53534575C>T | CA413146285 | HUWE1 | c.12556G>A (p.Asp4186Asn) c.12772G>A (p.Asp4258Asn) c.3239G>A n.85G>A c.12745G>A (p.Asp4249Asn) c.13021G>A (p.Asp4341Asn) c.13018G>A (p.Asp4340Asn) c.12976G>A (p.Asp4326Asn) c.12973G>A (p.Asp4325Asn) c.12970G>A (p.Asp4324Asn) c.12922G>A (p.Asp4308Asn) c.12619G>A (p.Asp4207Asn) c.13153G>A (p.Asp4385Asn) c.13150G>A (p.Asp4384Asn) c.13132G>A (p.Asp4378Asn) c.13108G>A (p.Asp4370Asn) c.13105G>A (p.Asp4369Asn) c.13102G>A (p.Asp4368Asn) c.13054G>A (p.Asp4352Asn) c.13042G>A (p.Asp4348Asn) c.12904G>A (p.Asp4302Asn) c.12751G>A (p.Asp4251Asn) | |
X | g.53534576A>C | CA413146288 | HUWE1 | c.12555T>G (p.Ile4185Met) c.12771T>G (p.Ile4257Met) c.3238T>G n.84T>G c.12744T>G (p.Ile4248Met) c.13020T>G (p.Ile4340Met) c.13017T>G (p.Ile4339Met) c.12975T>G (p.Ile4325Met) c.12972T>G (p.Ile4324Met) c.12969T>G (p.Ile4323Met) c.12921T>G (p.Ile4307Met) c.12618T>G (p.Ile4206Met) c.13152T>G (p.Ile4384Met) c.13149T>G (p.Ile4383Met) c.13131T>G (p.Ile4377Met) c.13107T>G (p.Ile4369Met) c.13104T>G (p.Ile4368Met) c.13101T>G (p.Ile4367Met) c.13053T>G (p.Ile4351Met) c.13041T>G (p.Ile4347Met) c.12903T>G (p.Ile4301Met) c.12750T>G (p.Ile4250Met) | |
X | g.53534576A>G | CA516420447 | HUWE1 | c.12555T>C (p.Ile4185=) c.12771T>C (p.Ile4257=) c.3238T>C n.84T>C c.12744T>C (p.Ile4248=) c.13020T>C (p.Ile4340=) c.13017T>C (p.Ile4339=) c.12975T>C (p.Ile4325=) c.12972T>C (p.Ile4324=) c.12969T>C (p.Ile4323=) c.12921T>C (p.Ile4307=) c.12618T>C (p.Ile4206=) c.13152T>C (p.Ile4384=) c.13149T>C (p.Ile4383=) c.13131T>C (p.Ile4377=) c.13107T>C (p.Ile4369=) c.13104T>C (p.Ile4368=) c.13101T>C (p.Ile4367=) c.13053T>C (p.Ile4351=) c.13041T>C (p.Ile4347=) c.12903T>C (p.Ile4301=) c.12750T>C (p.Ile4250=) | |
X | g.53534576A>T | CA516420445 | HUWE1 | c.12555T>A (p.Ile4185=) c.12771T>A (p.Ile4257=) c.3238T>A n.84T>A c.12744T>A (p.Ile4248=) c.13020T>A (p.Ile4340=) c.13017T>A (p.Ile4339=) c.12975T>A (p.Ile4325=) c.12972T>A (p.Ile4324=) c.12969T>A (p.Ile4323=) c.12921T>A (p.Ile4307=) c.12618T>A (p.Ile4206=) c.13152T>A (p.Ile4384=) c.13149T>A (p.Ile4383=) c.13131T>A (p.Ile4377=) c.13107T>A (p.Ile4369=) c.13104T>A (p.Ile4368=) c.13101T>A (p.Ile4367=) c.13053T>A (p.Ile4351=) c.13041T>A (p.Ile4347=) c.12903T>A (p.Ile4301=) c.12750T>A (p.Ile4250=) | |
X | g.53534577A>C | CA413146292 | HUWE1 | c.12554T>G (p.Ile4185Ser) c.12770T>G (p.Ile4257Ser) c.3237T>G n.83T>G c.12743T>G (p.Ile4248Ser) c.13019T>G (p.Ile4340Ser) c.13016T>G (p.Ile4339Ser) c.12974T>G (p.Ile4325Ser) c.12971T>G (p.Ile4324Ser) c.12968T>G (p.Ile4323Ser) c.12920T>G (p.Ile4307Ser) c.12617T>G (p.Ile4206Ser) c.13151T>G (p.Ile4384Ser) c.13148T>G (p.Ile4383Ser) c.13130T>G (p.Ile4377Ser) c.13106T>G (p.Ile4369Ser) c.13103T>G (p.Ile4368Ser) c.13100T>G (p.Ile4367Ser) c.13052T>G (p.Ile4351Ser) c.13040T>G (p.Ile4347Ser) c.12902T>G (p.Ile4301Ser) c.12749T>G (p.Ile4250Ser) | |
X | g.53534577A>G | CA413146294 | HUWE1 | c.12554T>C (p.Ile4185Thr) c.12770T>C (p.Ile4257Thr) c.3237T>C n.83T>C c.12743T>C (p.Ile4248Thr) c.13019T>C (p.Ile4340Thr) c.13016T>C (p.Ile4339Thr) c.12974T>C (p.Ile4325Thr) c.12971T>C (p.Ile4324Thr) c.12968T>C (p.Ile4323Thr) c.12920T>C (p.Ile4307Thr) c.12617T>C (p.Ile4206Thr) c.13151T>C (p.Ile4384Thr) c.13148T>C (p.Ile4383Thr) c.13130T>C (p.Ile4377Thr) c.13106T>C (p.Ile4369Thr) c.13103T>C (p.Ile4368Thr) c.13100T>C (p.Ile4367Thr) c.13052T>C (p.Ile4351Thr) c.13040T>C (p.Ile4347Thr) c.12902T>C (p.Ile4301Thr) c.12749T>C (p.Ile4250Thr) | gnomAD v4 |
X | g.53534577A>T | CA413146296 | HUWE1 | c.12554T>A (p.Ile4185Asn) c.12770T>A (p.Ile4257Asn) c.3237T>A n.83T>A c.12743T>A (p.Ile4248Asn) c.13019T>A (p.Ile4340Asn) c.13016T>A (p.Ile4339Asn) c.12974T>A (p.Ile4325Asn) c.12971T>A (p.Ile4324Asn) c.12968T>A (p.Ile4323Asn) c.12920T>A (p.Ile4307Asn) c.12617T>A (p.Ile4206Asn) c.13151T>A (p.Ile4384Asn) c.13148T>A (p.Ile4383Asn) c.13130T>A (p.Ile4377Asn) c.13106T>A (p.Ile4369Asn) c.13103T>A (p.Ile4368Asn) c.13100T>A (p.Ile4367Asn) c.13052T>A (p.Ile4351Asn) c.13040T>A (p.Ile4347Asn) c.12902T>A (p.Ile4301Asn) c.12749T>A (p.Ile4250Asn) | |
X | g.53534578T>A | CA413146304 | HUWE1 | c.12553A>T (p.Ile4185Phe) c.12769A>T (p.Ile4257Phe) c.3236A>T n.82A>T c.12742A>T (p.Ile4248Phe) c.13018A>T (p.Ile4340Phe) c.13015A>T (p.Ile4339Phe) c.12973A>T (p.Ile4325Phe) c.12970A>T (p.Ile4324Phe) c.12967A>T (p.Ile4323Phe) c.12919A>T (p.Ile4307Phe) c.12616A>T (p.Ile4206Phe) c.13150A>T (p.Ile4384Phe) c.13147A>T (p.Ile4383Phe) c.13129A>T (p.Ile4377Phe) c.13105A>T (p.Ile4369Phe) c.13102A>T (p.Ile4368Phe) c.13099A>T (p.Ile4367Phe) c.13051A>T (p.Ile4351Phe) c.13039A>T (p.Ile4347Phe) c.12901A>T (p.Ile4301Phe) c.12748A>T (p.Ile4250Phe) | |
X | g.53534578T>C | CA10421146 | HUWE1 | c.12553A>G (p.Ile4185Val) c.12769A>G (p.Ile4257Val) c.3236A>G n.82A>G c.12742A>G (p.Ile4248Val) c.13018A>G (p.Ile4340Val) c.13015A>G (p.Ile4339Val) c.12973A>G (p.Ile4325Val) c.12970A>G (p.Ile4324Val) c.12967A>G (p.Ile4323Val) c.12919A>G (p.Ile4307Val) c.12616A>G (p.Ile4206Val) c.13150A>G (p.Ile4384Val) c.13147A>G (p.Ile4383Val) c.13129A>G (p.Ile4377Val) c.13105A>G (p.Ile4369Val) c.13102A>G (p.Ile4368Val) c.13099A>G (p.Ile4367Val) c.13051A>G (p.Ile4351Val) c.13039A>G (p.Ile4347Val) c.12901A>G (p.Ile4301Val) c.12748A>G (p.Ile4250Val) | dbSNP ExAC gnomAD v2 |
X | g.53534578T>G | CA413146301 | HUWE1 | c.12553A>C (p.Ile4185Leu) c.12769A>C (p.Ile4257Leu) c.3236A>C n.82A>C c.12742A>C (p.Ile4248Leu) c.13018A>C (p.Ile4340Leu) c.13015A>C (p.Ile4339Leu) c.12973A>C (p.Ile4325Leu) c.12970A>C (p.Ile4324Leu) c.12967A>C (p.Ile4323Leu) c.12919A>C (p.Ile4307Leu) c.12616A>C (p.Ile4206Leu) c.13150A>C (p.Ile4384Leu) c.13147A>C (p.Ile4383Leu) c.13129A>C (p.Ile4377Leu) c.13105A>C (p.Ile4369Leu) c.13102A>C (p.Ile4368Leu) c.13099A>C (p.Ile4367Leu) c.13051A>C (p.Ile4351Leu) c.13039A>C (p.Ile4347Leu) c.12901A>C (p.Ile4301Leu) c.12748A>C (p.Ile4250Leu) | |
X | g.53534578T= | CA2429869111 | HUWE1 | c.12553A= (p.Ile4185=) c.12769A= (p.Ile4257=) c.3236A= n.82A= c.12742A= (p.Ile4248=) c.13018A= (p.Ile4340=) c.13015A= (p.Ile4339=) c.12973A= (p.Ile4325=) c.12970A= (p.Ile4324=) c.12967A= (p.Ile4323=) c.12919A= (p.Ile4307=) c.12616A= (p.Ile4206=) c.13150A= (p.Ile4384=) c.13147A= (p.Ile4383=) c.13129A= (p.Ile4377=) c.13105A= (p.Ile4369=) c.13102A= (p.Ile4368=) c.13099A= (p.Ile4367=) c.13051A= (p.Ile4351=) c.13039A= (p.Ile4347=) c.12901A= (p.Ile4301=) c.12748A= (p.Ile4250=) | |
X | g.53534579G>A | CA516420459 | HUWE1 | c.12552C>T (p.Thr4184=) c.12768C>T (p.Thr4256=) c.3235C>T n.81C>T c.12741C>T (p.Thr4247=) c.13017C>T (p.Thr4339=) c.13014C>T (p.Thr4338=) c.12972C>T (p.Thr4324=) c.12969C>T (p.Thr4323=) c.12966C>T (p.Thr4322=) c.12918C>T (p.Thr4306=) c.12615C>T (p.Thr4205=) c.13149C>T (p.Thr4383=) c.13146C>T (p.Thr4382=) c.13128C>T (p.Thr4376=) c.13104C>T (p.Thr4368=) c.13101C>T (p.Thr4367=) c.13098C>T (p.Thr4366=) c.13050C>T (p.Thr4350=) c.13038C>T (p.Thr4346=) c.12900C>T (p.Thr4300=) c.12747C>T (p.Thr4249=) | |
X | g.53534579G>C | CA516420460 | HUWE1 | c.12552C>G (p.Thr4184=) c.12768C>G (p.Thr4256=) c.3235C>G n.81C>G c.12741C>G (p.Thr4247=) c.13017C>G (p.Thr4339=) c.13014C>G (p.Thr4338=) c.12972C>G (p.Thr4324=) c.12969C>G (p.Thr4323=) c.12966C>G (p.Thr4322=) c.12918C>G (p.Thr4306=) c.12615C>G (p.Thr4205=) c.13149C>G (p.Thr4383=) c.13146C>G (p.Thr4382=) c.13128C>G (p.Thr4376=) c.13104C>G (p.Thr4368=) c.13101C>G (p.Thr4367=) c.13098C>G (p.Thr4366=) c.13050C>G (p.Thr4350=) c.13038C>G (p.Thr4346=) c.12900C>G (p.Thr4300=) c.12747C>G (p.Thr4249=) | |
X | g.53534579G>T | CA516420463 | HUWE1 | c.12552C>A (p.Thr4184=) c.12768C>A (p.Thr4256=) c.3235C>A n.81C>A c.12741C>A (p.Thr4247=) c.13017C>A (p.Thr4339=) c.13014C>A (p.Thr4338=) c.12972C>A (p.Thr4324=) c.12969C>A (p.Thr4323=) c.12966C>A (p.Thr4322=) c.12918C>A (p.Thr4306=) c.12615C>A (p.Thr4205=) c.13149C>A (p.Thr4383=) c.13146C>A (p.Thr4382=) c.13128C>A (p.Thr4376=) c.13104C>A (p.Thr4368=) c.13101C>A (p.Thr4367=) c.13098C>A (p.Thr4366=) c.13050C>A (p.Thr4350=) c.13038C>A (p.Thr4346=) c.12900C>A (p.Thr4300=) c.12747C>A (p.Thr4249=) | |
X | g.53534580G>A | CA413146309 | HUWE1 | c.12551C>T (p.Thr4184Ile) c.12767C>T (p.Thr4256Ile) c.3234C>T n.80C>T c.12740C>T (p.Thr4247Ile) c.13016C>T (p.Thr4339Ile) c.13013C>T (p.Thr4338Ile) c.12971C>T (p.Thr4324Ile) c.12968C>T (p.Thr4323Ile) c.12965C>T (p.Thr4322Ile) c.12917C>T (p.Thr4306Ile) c.12614C>T (p.Thr4205Ile) c.13148C>T (p.Thr4383Ile) c.13145C>T (p.Thr4382Ile) c.13127C>T (p.Thr4376Ile) c.13103C>T (p.Thr4368Ile) c.13100C>T (p.Thr4367Ile) c.13097C>T (p.Thr4366Ile) c.13049C>T (p.Thr4350Ile) c.13037C>T (p.Thr4346Ile) c.12899C>T (p.Thr4300Ile) c.12746C>T (p.Thr4249Ile) | |
X | g.53534580G>C | CA413146312 | HUWE1 | c.12551C>G (p.Thr4184Ser) c.12767C>G (p.Thr4256Ser) c.3234C>G n.80C>G c.12740C>G (p.Thr4247Ser) c.13016C>G (p.Thr4339Ser) c.13013C>G (p.Thr4338Ser) c.12971C>G (p.Thr4324Ser) c.12968C>G (p.Thr4323Ser) c.12965C>G (p.Thr4322Ser) c.12917C>G (p.Thr4306Ser) c.12614C>G (p.Thr4205Ser) c.13148C>G (p.Thr4383Ser) c.13145C>G (p.Thr4382Ser) c.13127C>G (p.Thr4376Ser) c.13103C>G (p.Thr4368Ser) c.13100C>G (p.Thr4367Ser) c.13097C>G (p.Thr4366Ser) c.13049C>G (p.Thr4350Ser) c.13037C>G (p.Thr4346Ser) c.12899C>G (p.Thr4300Ser) c.12746C>G (p.Thr4249Ser) | |
X | g.53534580G>T | CA413146315 | HUWE1 | c.12551C>A (p.Thr4184Asn) c.12767C>A (p.Thr4256Asn) c.3234C>A n.80C>A c.12740C>A (p.Thr4247Asn) c.13016C>A (p.Thr4339Asn) c.13013C>A (p.Thr4338Asn) c.12971C>A (p.Thr4324Asn) c.12968C>A (p.Thr4323Asn) c.12965C>A (p.Thr4322Asn) c.12917C>A (p.Thr4306Asn) c.12614C>A (p.Thr4205Asn) c.13148C>A (p.Thr4383Asn) c.13145C>A (p.Thr4382Asn) c.13127C>A (p.Thr4376Asn) c.13103C>A (p.Thr4368Asn) c.13100C>A (p.Thr4367Asn) c.13097C>A (p.Thr4366Asn) c.13049C>A (p.Thr4350Asn) c.13037C>A (p.Thr4346Asn) c.12899C>A (p.Thr4300Asn) c.12746C>A (p.Thr4249Asn) | |
X | g.53534581T>A | CA413146319 | HUWE1 | c.12550A>T (p.Thr4184Ser) c.12766A>T (p.Thr4256Ser) c.3233A>T n.79A>T c.12739A>T (p.Thr4247Ser) c.13015A>T (p.Thr4339Ser) c.13012A>T (p.Thr4338Ser) c.12970A>T (p.Thr4324Ser) c.12967A>T (p.Thr4323Ser) c.12964A>T (p.Thr4322Ser) c.12916A>T (p.Thr4306Ser) c.12613A>T (p.Thr4205Ser) c.13147A>T (p.Thr4383Ser) c.13144A>T (p.Thr4382Ser) c.13126A>T (p.Thr4376Ser) c.13102A>T (p.Thr4368Ser) c.13099A>T (p.Thr4367Ser) c.13096A>T (p.Thr4366Ser) c.13048A>T (p.Thr4350Ser) c.13036A>T (p.Thr4346Ser) c.12898A>T (p.Thr4300Ser) c.12745A>T (p.Thr4249Ser) | |
X | g.53534581T>C | CA413146321 | HUWE1 | c.12550A>G (p.Thr4184Ala) c.12766A>G (p.Thr4256Ala) c.3233A>G n.79A>G c.12739A>G (p.Thr4247Ala) c.13015A>G (p.Thr4339Ala) c.13012A>G (p.Thr4338Ala) c.12970A>G (p.Thr4324Ala) c.12967A>G (p.Thr4323Ala) c.12964A>G (p.Thr4322Ala) c.12916A>G (p.Thr4306Ala) c.12613A>G (p.Thr4205Ala) c.13147A>G (p.Thr4383Ala) c.13144A>G (p.Thr4382Ala) c.13126A>G (p.Thr4376Ala) c.13102A>G (p.Thr4368Ala) c.13099A>G (p.Thr4367Ala) c.13096A>G (p.Thr4366Ala) c.13048A>G (p.Thr4350Ala) c.13036A>G (p.Thr4346Ala) c.12898A>G (p.Thr4300Ala) c.12745A>G (p.Thr4249Ala) | |
X | g.53534581T>G | CA413146324 | HUWE1 | c.12550A>C (p.Thr4184Pro) c.12766A>C (p.Thr4256Pro) c.3233A>C n.79A>C c.12739A>C (p.Thr4247Pro) c.13015A>C (p.Thr4339Pro) c.13012A>C (p.Thr4338Pro) c.12970A>C (p.Thr4324Pro) c.12967A>C (p.Thr4323Pro) c.12964A>C (p.Thr4322Pro) c.12916A>C (p.Thr4306Pro) c.12613A>C (p.Thr4205Pro) c.13147A>C (p.Thr4383Pro) c.13144A>C (p.Thr4382Pro) c.13126A>C (p.Thr4376Pro) c.13102A>C (p.Thr4368Pro) c.13099A>C (p.Thr4367Pro) c.13096A>C (p.Thr4366Pro) c.13048A>C (p.Thr4350Pro) c.13036A>C (p.Thr4346Pro) c.12898A>C (p.Thr4300Pro) c.12745A>C (p.Thr4249Pro) | |
X | g.53534582G>A | CA516420473 | HUWE1 | c.12549C>T (p.Pro4183=) c.12765C>T (p.Pro4255=) c.3232C>T n.78C>T c.12738C>T (p.Pro4246=) c.13014C>T (p.Pro4338=) c.13011C>T (p.Pro4337=) c.12969C>T (p.Pro4323=) c.12966C>T (p.Pro4322=) c.12963C>T (p.Pro4321=) c.12915C>T (p.Pro4305=) c.12612C>T (p.Pro4204=) c.13146C>T (p.Pro4382=) c.13143C>T (p.Pro4381=) c.13125C>T (p.Pro4375=) c.13101C>T (p.Pro4367=) c.13098C>T (p.Pro4366=) c.13095C>T (p.Pro4365=) c.13047C>T (p.Pro4349=) c.13035C>T (p.Pro4345=) c.12897C>T (p.Pro4299=) c.12744C>T (p.Pro4248=) | |
X | g.53534582G>C | CA516420474 | HUWE1 | c.12549C>G (p.Pro4183=) c.12765C>G (p.Pro4255=) c.3232C>G n.78C>G c.12738C>G (p.Pro4246=) c.13014C>G (p.Pro4338=) c.13011C>G (p.Pro4337=) c.12969C>G (p.Pro4323=) c.12966C>G (p.Pro4322=) c.12963C>G (p.Pro4321=) c.12915C>G (p.Pro4305=) c.12612C>G (p.Pro4204=) c.13146C>G (p.Pro4382=) c.13143C>G (p.Pro4381=) c.13125C>G (p.Pro4375=) c.13101C>G (p.Pro4367=) c.13098C>G (p.Pro4366=) c.13095C>G (p.Pro4365=) c.13047C>G (p.Pro4349=) c.13035C>G (p.Pro4345=) c.12897C>G (p.Pro4299=) c.12744C>G (p.Pro4248=) | |
X | g.53534582G>T | CA516420475 | HUWE1 | c.12549C>A (p.Pro4183=) c.12765C>A (p.Pro4255=) c.3232C>A n.78C>A c.12738C>A (p.Pro4246=) c.13014C>A (p.Pro4338=) c.13011C>A (p.Pro4337=) c.12969C>A (p.Pro4323=) c.12966C>A (p.Pro4322=) c.12963C>A (p.Pro4321=) c.12915C>A (p.Pro4305=) c.12612C>A (p.Pro4204=) c.13146C>A (p.Pro4382=) c.13143C>A (p.Pro4381=) c.13125C>A (p.Pro4375=) c.13101C>A (p.Pro4367=) c.13098C>A (p.Pro4366=) c.13095C>A (p.Pro4365=) c.13047C>A (p.Pro4349=) c.13035C>A (p.Pro4345=) c.12897C>A (p.Pro4299=) c.12744C>A (p.Pro4248=) | |
X | g.53534583G>A | CA413146328 | HUWE1 | c.12548C>T (p.Pro4183Leu) c.12764C>T (p.Pro4255Leu) c.3231C>T n.77C>T c.12737C>T (p.Pro4246Leu) c.13013C>T (p.Pro4338Leu) c.13010C>T (p.Pro4337Leu) c.12968C>T (p.Pro4323Leu) c.12965C>T (p.Pro4322Leu) c.12962C>T (p.Pro4321Leu) c.12914C>T (p.Pro4305Leu) c.12611C>T (p.Pro4204Leu) c.13145C>T (p.Pro4382Leu) c.13142C>T (p.Pro4381Leu) c.13124C>T (p.Pro4375Leu) c.13100C>T (p.Pro4367Leu) c.13097C>T (p.Pro4366Leu) c.13094C>T (p.Pro4365Leu) c.13046C>T (p.Pro4349Leu) c.13034C>T (p.Pro4345Leu) c.12896C>T (p.Pro4299Leu) c.12743C>T (p.Pro4248Leu) | |
X | g.53534583G>C | CA413146329 | HUWE1 | c.12548C>G (p.Pro4183Arg) c.12764C>G (p.Pro4255Arg) c.3231C>G n.77C>G c.12737C>G (p.Pro4246Arg) c.13013C>G (p.Pro4338Arg) c.13010C>G (p.Pro4337Arg) c.12968C>G (p.Pro4323Arg) c.12965C>G (p.Pro4322Arg) c.12962C>G (p.Pro4321Arg) c.12914C>G (p.Pro4305Arg) c.12611C>G (p.Pro4204Arg) c.13145C>G (p.Pro4382Arg) c.13142C>G (p.Pro4381Arg) c.13124C>G (p.Pro4375Arg) c.13100C>G (p.Pro4367Arg) c.13097C>G (p.Pro4366Arg) c.13094C>G (p.Pro4365Arg) c.13046C>G (p.Pro4349Arg) c.13034C>G (p.Pro4345Arg) c.12896C>G (p.Pro4299Arg) c.12743C>G (p.Pro4248Arg) | |
X | g.53534583G>T | CA413146331 | HUWE1 | c.12548C>A (p.Pro4183His) c.12764C>A (p.Pro4255His) c.3231C>A n.77C>A c.12737C>A (p.Pro4246His) c.13013C>A (p.Pro4338His) c.13010C>A (p.Pro4337His) c.12968C>A (p.Pro4323His) c.12965C>A (p.Pro4322His) c.12962C>A (p.Pro4321His) c.12914C>A (p.Pro4305His) c.12611C>A (p.Pro4204His) c.13145C>A (p.Pro4382His) c.13142C>A (p.Pro4381His) c.13124C>A (p.Pro4375His) c.13100C>A (p.Pro4367His) c.13097C>A (p.Pro4366His) c.13094C>A (p.Pro4365His) c.13046C>A (p.Pro4349His) c.13034C>A (p.Pro4345His) c.12896C>A (p.Pro4299His) c.12743C>A (p.Pro4248His) | |
X | g.53534584G>A | CA413146334 | HUWE1 | c.12547C>T (p.Pro4183Ser) c.12763C>T (p.Pro4255Ser) c.3230C>T n.76C>T c.12736C>T (p.Pro4246Ser) c.13012C>T (p.Pro4338Ser) c.13009C>T (p.Pro4337Ser) c.12967C>T (p.Pro4323Ser) c.12964C>T (p.Pro4322Ser) c.12961C>T (p.Pro4321Ser) c.12913C>T (p.Pro4305Ser) c.12610C>T (p.Pro4204Ser) c.13144C>T (p.Pro4382Ser) c.13141C>T (p.Pro4381Ser) c.13123C>T (p.Pro4375Ser) c.13099C>T (p.Pro4367Ser) c.13096C>T (p.Pro4366Ser) c.13093C>T (p.Pro4365Ser) c.13045C>T (p.Pro4349Ser) c.13033C>T (p.Pro4345Ser) c.12895C>T (p.Pro4299Ser) c.12742C>T (p.Pro4248Ser) | |
X | g.53534584G>C | CA413146336 | HUWE1 | c.12547C>G (p.Pro4183Ala) c.12763C>G (p.Pro4255Ala) c.3230C>G n.76C>G c.12736C>G (p.Pro4246Ala) c.13012C>G (p.Pro4338Ala) c.13009C>G (p.Pro4337Ala) c.12967C>G (p.Pro4323Ala) c.12964C>G (p.Pro4322Ala) c.12961C>G (p.Pro4321Ala) c.12913C>G (p.Pro4305Ala) c.12610C>G (p.Pro4204Ala) c.13144C>G (p.Pro4382Ala) c.13141C>G (p.Pro4381Ala) c.13123C>G (p.Pro4375Ala) c.13099C>G (p.Pro4367Ala) c.13096C>G (p.Pro4366Ala) c.13093C>G (p.Pro4365Ala) c.13045C>G (p.Pro4349Ala) c.13033C>G (p.Pro4345Ala) c.12895C>G (p.Pro4299Ala) c.12742C>G (p.Pro4248Ala) | |
X | g.53534584G>T | CA413146339 | HUWE1 | c.12547C>A (p.Pro4183Thr) c.12763C>A (p.Pro4255Thr) c.3230C>A n.76C>A c.12736C>A (p.Pro4246Thr) c.13012C>A (p.Pro4338Thr) c.13009C>A (p.Pro4337Thr) c.12967C>A (p.Pro4323Thr) c.12964C>A (p.Pro4322Thr) c.12961C>A (p.Pro4321Thr) c.12913C>A (p.Pro4305Thr) c.12610C>A (p.Pro4204Thr) c.13144C>A (p.Pro4382Thr) c.13141C>A (p.Pro4381Thr) c.13123C>A (p.Pro4375Thr) c.13099C>A (p.Pro4367Thr) c.13096C>A (p.Pro4366Thr) c.13093C>A (p.Pro4365Thr) c.13045C>A (p.Pro4349Thr) c.13033C>A (p.Pro4345Thr) c.12895C>A (p.Pro4299Thr) c.12742C>A (p.Pro4248Thr) | |
X | g.53534585C>A | CA516420486 | HUWE1 | c.12546G>T (p.Leu4182=) c.12762G>T (p.Leu4254=) c.3229G>T n.75G>T c.12735G>T (p.Leu4245=) c.13011G>T (p.Leu4337=) c.13008G>T (p.Leu4336=) c.12966G>T (p.Leu4322=) c.12963G>T (p.Leu4321=) c.12960G>T (p.Leu4320=) c.12912G>T (p.Leu4304=) c.12609G>T (p.Leu4203=) c.13143G>T (p.Leu4381=) c.13140G>T (p.Leu4380=) c.13122G>T (p.Leu4374=) c.13098G>T (p.Leu4366=) c.13095G>T (p.Leu4365=) c.13092G>T (p.Leu4364=) c.13044G>T (p.Leu4348=) c.13032G>T (p.Leu4344=) c.12894G>T (p.Leu4298=) c.12741G>T (p.Leu4247=) | |
X | g.53534585C= | CA2429869112 | HUWE1 | c.12546G= (p.Leu4182=) c.12762G= (p.Leu4254=) c.3229G= n.75G= c.12735G= (p.Leu4245=) c.13011G= (p.Leu4337=) c.13008G= (p.Leu4336=) c.12966G= (p.Leu4322=) c.12963G= (p.Leu4321=) c.12960G= (p.Leu4320=) c.12912G= (p.Leu4304=) c.12609G= (p.Leu4203=) c.13143G= (p.Leu4381=) c.13140G= (p.Leu4380=) c.13122G= (p.Leu4374=) c.13098G= (p.Leu4366=) c.13095G= (p.Leu4365=) c.13092G= (p.Leu4364=) c.13044G= (p.Leu4348=) c.13032G= (p.Leu4344=) c.12894G= (p.Leu4298=) c.12741G= (p.Leu4247=) | |
X | g.53534585C>G | CA516420488 | HUWE1 | c.12546G>C (p.Leu4182=) c.12762G>C (p.Leu4254=) c.3229G>C n.75G>C c.12735G>C (p.Leu4245=) c.13011G>C (p.Leu4337=) c.13008G>C (p.Leu4336=) c.12966G>C (p.Leu4322=) c.12963G>C (p.Leu4321=) c.12960G>C (p.Leu4320=) c.12912G>C (p.Leu4304=) c.12609G>C (p.Leu4203=) c.13143G>C (p.Leu4381=) c.13140G>C (p.Leu4380=) c.13122G>C (p.Leu4374=) c.13098G>C (p.Leu4366=) c.13095G>C (p.Leu4365=) c.13092G>C (p.Leu4364=) c.13044G>C (p.Leu4348=) c.13032G>C (p.Leu4344=) c.12894G>C (p.Leu4298=) c.12741G>C (p.Leu4247=) | |
X | g.53534585C>T | CA10421147 | HUWE1 | c.12546G>A (p.Leu4182=) c.12762G>A (p.Leu4254=) c.3229G>A n.75G>A c.12735G>A (p.Leu4245=) c.13011G>A (p.Leu4337=) c.13008G>A (p.Leu4336=) c.12966G>A (p.Leu4322=) c.12963G>A (p.Leu4321=) c.12960G>A (p.Leu4320=) c.12912G>A (p.Leu4304=) c.12609G>A (p.Leu4203=) c.13143G>A (p.Leu4381=) c.13140G>A (p.Leu4380=) c.13122G>A (p.Leu4374=) c.13098G>A (p.Leu4366=) c.13095G>A (p.Leu4365=) c.13092G>A (p.Leu4364=) c.13044G>A (p.Leu4348=) c.13032G>A (p.Leu4344=) c.12894G>A (p.Leu4298=) c.12741G>A (p.Leu4247=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53534586A>C | CA413146351 | HUWE1 | c.12545T>G (p.Leu4182Arg) c.12761T>G (p.Leu4254Arg) c.3228T>G n.74T>G c.12734T>G (p.Leu4245Arg) c.13010T>G (p.Leu4337Arg) c.13007T>G (p.Leu4336Arg) c.12965T>G (p.Leu4322Arg) c.12962T>G (p.Leu4321Arg) c.12959T>G (p.Leu4320Arg) c.12911T>G (p.Leu4304Arg) c.12608T>G (p.Leu4203Arg) c.13142T>G (p.Leu4381Arg) c.13139T>G (p.Leu4380Arg) c.13121T>G (p.Leu4374Arg) c.13097T>G (p.Leu4366Arg) c.13094T>G (p.Leu4365Arg) c.13091T>G (p.Leu4364Arg) c.13043T>G (p.Leu4348Arg) c.13031T>G (p.Leu4344Arg) c.12893T>G (p.Leu4298Arg) c.12740T>G (p.Leu4247Arg) | |
X | g.53534586A>G | CA413146349 | HUWE1 | c.12545T>C (p.Leu4182Pro) c.12761T>C (p.Leu4254Pro) c.3228T>C n.74T>C c.12734T>C (p.Leu4245Pro) c.13010T>C (p.Leu4337Pro) c.13007T>C (p.Leu4336Pro) c.12965T>C (p.Leu4322Pro) c.12962T>C (p.Leu4321Pro) c.12959T>C (p.Leu4320Pro) c.12911T>C (p.Leu4304Pro) c.12608T>C (p.Leu4203Pro) c.13142T>C (p.Leu4381Pro) c.13139T>C (p.Leu4380Pro) c.13121T>C (p.Leu4374Pro) c.13097T>C (p.Leu4366Pro) c.13094T>C (p.Leu4365Pro) c.13091T>C (p.Leu4364Pro) c.13043T>C (p.Leu4348Pro) c.13031T>C (p.Leu4344Pro) c.12893T>C (p.Leu4298Pro) c.12740T>C (p.Leu4247Pro) | |
X | g.53534586A>T | CA413146354 | HUWE1 | c.12545T>A (p.Leu4182Gln) c.12761T>A (p.Leu4254Gln) c.3228T>A n.74T>A c.12734T>A (p.Leu4245Gln) c.13010T>A (p.Leu4337Gln) c.13007T>A (p.Leu4336Gln) c.12965T>A (p.Leu4322Gln) c.12962T>A (p.Leu4321Gln) c.12959T>A (p.Leu4320Gln) c.12911T>A (p.Leu4304Gln) c.12608T>A (p.Leu4203Gln) c.13142T>A (p.Leu4381Gln) c.13139T>A (p.Leu4380Gln) c.13121T>A (p.Leu4374Gln) c.13097T>A (p.Leu4366Gln) c.13094T>A (p.Leu4365Gln) c.13091T>A (p.Leu4364Gln) c.13043T>A (p.Leu4348Gln) c.13031T>A (p.Leu4344Gln) c.12893T>A (p.Leu4298Gln) c.12740T>A (p.Leu4247Gln) | |
X | g.53534587G>A | CA516420495 | HUWE1 | c.12544C>T (p.Leu4182=) c.12760C>T (p.Leu4254=) c.3227C>T n.73C>T c.12733C>T (p.Leu4245=) c.13009C>T (p.Leu4337=) c.13006C>T (p.Leu4336=) c.12964C>T (p.Leu4322=) c.12961C>T (p.Leu4321=) c.12958C>T (p.Leu4320=) c.12910C>T (p.Leu4304=) c.12607C>T (p.Leu4203=) c.13141C>T (p.Leu4381=) c.13138C>T (p.Leu4380=) c.13120C>T (p.Leu4374=) c.13096C>T (p.Leu4366=) c.13093C>T (p.Leu4365=) c.13090C>T (p.Leu4364=) c.13042C>T (p.Leu4348=) c.13030C>T (p.Leu4344=) c.12892C>T (p.Leu4298=) c.12739C>T (p.Leu4247=) | gnomAD v4 |
X | g.53534587G>C | CA413146358 | HUWE1 | c.12544C>G (p.Leu4182Val) c.12760C>G (p.Leu4254Val) c.3227C>G n.73C>G c.12733C>G (p.Leu4245Val) c.13009C>G (p.Leu4337Val) c.13006C>G (p.Leu4336Val) c.12964C>G (p.Leu4322Val) c.12961C>G (p.Leu4321Val) c.12958C>G (p.Leu4320Val) c.12910C>G (p.Leu4304Val) c.12607C>G (p.Leu4203Val) c.13141C>G (p.Leu4381Val) c.13138C>G (p.Leu4380Val) c.13120C>G (p.Leu4374Val) c.13096C>G (p.Leu4366Val) c.13093C>G (p.Leu4365Val) c.13090C>G (p.Leu4364Val) c.13042C>G (p.Leu4348Val) c.13030C>G (p.Leu4344Val) c.12892C>G (p.Leu4298Val) c.12739C>G (p.Leu4247Val) | |
X | g.53534587G>T | CA413146360 | HUWE1 | c.12544C>A (p.Leu4182Met) c.12760C>A (p.Leu4254Met) c.3227C>A n.73C>A c.12733C>A (p.Leu4245Met) c.13009C>A (p.Leu4337Met) c.13006C>A (p.Leu4336Met) c.12964C>A (p.Leu4322Met) c.12961C>A (p.Leu4321Met) c.12958C>A (p.Leu4320Met) c.12910C>A (p.Leu4304Met) c.12607C>A (p.Leu4203Met) c.13141C>A (p.Leu4381Met) c.13138C>A (p.Leu4380Met) c.13120C>A (p.Leu4374Met) c.13096C>A (p.Leu4366Met) c.13093C>A (p.Leu4365Met) c.13090C>A (p.Leu4364Met) c.13042C>A (p.Leu4348Met) c.13030C>A (p.Leu4344Met) c.12892C>A (p.Leu4298Met) c.12739C>A (p.Leu4247Met) | |
X | g.53534588T>A | CA516420499 | HUWE1 | c.12543A>T (p.Gly4181=) c.12759A>T (p.Gly4253=) c.3226A>T n.72A>T c.12732A>T (p.Gly4244=) c.13008A>T (p.Gly4336=) c.13005A>T (p.Gly4335=) c.12963A>T (p.Gly4321=) c.12960A>T (p.Gly4320=) c.12957A>T (p.Gly4319=) c.12909A>T (p.Gly4303=) c.12606A>T (p.Gly4202=) c.13140A>T (p.Gly4380=) c.13137A>T (p.Gly4379=) c.13119A>T (p.Gly4373=) c.13095A>T (p.Gly4365=) c.13092A>T (p.Gly4364=) c.13089A>T (p.Gly4363=) c.13041A>T (p.Gly4347=) c.13029A>T (p.Gly4343=) c.12891A>T (p.Gly4297=) c.12738A>T (p.Gly4246=) | |
X | g.53534588T>C | CA516420501 | HUWE1 | c.12543A>G (p.Gly4181=) c.12759A>G (p.Gly4253=) c.3226A>G n.72A>G c.12732A>G (p.Gly4244=) c.13008A>G (p.Gly4336=) c.13005A>G (p.Gly4335=) c.12963A>G (p.Gly4321=) c.12960A>G (p.Gly4320=) c.12957A>G (p.Gly4319=) c.12909A>G (p.Gly4303=) c.12606A>G (p.Gly4202=) c.13140A>G (p.Gly4380=) c.13137A>G (p.Gly4379=) c.13119A>G (p.Gly4373=) c.13095A>G (p.Gly4365=) c.13092A>G (p.Gly4364=) c.13089A>G (p.Gly4363=) c.13041A>G (p.Gly4347=) c.13029A>G (p.Gly4343=) c.12891A>G (p.Gly4297=) c.12738A>G (p.Gly4246=) | |
X | g.53534588T>G | CA516420504 | HUWE1 | c.12543A>C (p.Gly4181=) c.12759A>C (p.Gly4253=) c.3226A>C n.72A>C c.12732A>C (p.Gly4244=) c.13008A>C (p.Gly4336=) c.13005A>C (p.Gly4335=) c.12963A>C (p.Gly4321=) c.12960A>C (p.Gly4320=) c.12957A>C (p.Gly4319=) c.12909A>C (p.Gly4303=) c.12606A>C (p.Gly4202=) c.13140A>C (p.Gly4380=) c.13137A>C (p.Gly4379=) c.13119A>C (p.Gly4373=) c.13095A>C (p.Gly4365=) c.13092A>C (p.Gly4364=) c.13089A>C (p.Gly4363=) c.13041A>C (p.Gly4347=) c.13029A>C (p.Gly4343=) c.12891A>C (p.Gly4297=) c.12738A>C (p.Gly4246=) | |
X | g.53534589C>A | CA413146364 | HUWE1 | c.12542G>T (p.Gly4181Val) c.12758G>T (p.Gly4253Val) c.3225G>T n.71G>T c.12731G>T (p.Gly4244Val) c.13007G>T (p.Gly4336Val) c.13004G>T (p.Gly4335Val) c.12962G>T (p.Gly4321Val) c.12959G>T (p.Gly4320Val) c.12956G>T (p.Gly4319Val) c.12908G>T (p.Gly4303Val) c.12605G>T (p.Gly4202Val) c.13139G>T (p.Gly4380Val) c.13136G>T (p.Gly4379Val) c.13118G>T (p.Gly4373Val) c.13094G>T (p.Gly4365Val) c.13091G>T (p.Gly4364Val) c.13088G>T (p.Gly4363Val) c.13040G>T (p.Gly4347Val) c.13028G>T (p.Gly4343Val) c.12890G>T (p.Gly4297Val) c.12737G>T (p.Gly4246Val) | |
X | g.53534589C>G | CA413146371 | HUWE1 | c.12542G>C (p.Gly4181Ala) c.12758G>C (p.Gly4253Ala) c.3225G>C n.71G>C c.12731G>C (p.Gly4244Ala) c.13007G>C (p.Gly4336Ala) c.13004G>C (p.Gly4335Ala) c.12962G>C (p.Gly4321Ala) c.12959G>C (p.Gly4320Ala) c.12956G>C (p.Gly4319Ala) c.12908G>C (p.Gly4303Ala) c.12605G>C (p.Gly4202Ala) c.13139G>C (p.Gly4380Ala) c.13136G>C (p.Gly4379Ala) c.13118G>C (p.Gly4373Ala) c.13094G>C (p.Gly4365Ala) c.13091G>C (p.Gly4364Ala) c.13088G>C (p.Gly4363Ala) c.13040G>C (p.Gly4347Ala) c.13028G>C (p.Gly4343Ala) c.12890G>C (p.Gly4297Ala) c.12737G>C (p.Gly4246Ala) | |
X | g.53534589C>T | CA413146368 | HUWE1 | c.12542G>A (p.Gly4181Glu) c.12758G>A (p.Gly4253Glu) c.3225G>A n.71G>A c.12731G>A (p.Gly4244Glu) c.13007G>A (p.Gly4336Glu) c.13004G>A (p.Gly4335Glu) c.12962G>A (p.Gly4321Glu) c.12959G>A (p.Gly4320Glu) c.12956G>A (p.Gly4319Glu) c.12908G>A (p.Gly4303Glu) c.12605G>A (p.Gly4202Glu) c.13139G>A (p.Gly4380Glu) c.13136G>A (p.Gly4379Glu) c.13118G>A (p.Gly4373Glu) c.13094G>A (p.Gly4365Glu) c.13091G>A (p.Gly4364Glu) c.13088G>A (p.Gly4363Glu) c.13040G>A (p.Gly4347Glu) c.13028G>A (p.Gly4343Glu) c.12890G>A (p.Gly4297Glu) c.12737G>A (p.Gly4246Glu) | |
X | g.53534590C>A | CA413146375 | HUWE1 | c.12541G>T (p.Gly4181Ter) c.12757G>T (p.Gly4253Ter) c.3224G>T n.70G>T c.12730G>T (p.Gly4244Ter) c.13006G>T (p.Gly4336Ter) c.13003G>T (p.Gly4335Ter) c.12961G>T (p.Gly4321Ter) c.12958G>T (p.Gly4320Ter) c.12955G>T (p.Gly4319Ter) c.12907G>T (p.Gly4303Ter) c.12604G>T (p.Gly4202Ter) c.13138G>T (p.Gly4380Ter) c.13135G>T (p.Gly4379Ter) c.13117G>T (p.Gly4373Ter) c.13093G>T (p.Gly4365Ter) c.13090G>T (p.Gly4364Ter) c.13087G>T (p.Gly4363Ter) c.13039G>T (p.Gly4347Ter) c.13027G>T (p.Gly4343Ter) c.12889G>T (p.Gly4297Ter) c.12736G>T (p.Gly4246Ter) | |
X | g.53534590C>G | CA413146377 | HUWE1 | c.12541G>C (p.Gly4181Arg) c.12757G>C (p.Gly4253Arg) c.3224G>C n.70G>C c.12730G>C (p.Gly4244Arg) c.13006G>C (p.Gly4336Arg) c.13003G>C (p.Gly4335Arg) c.12961G>C (p.Gly4321Arg) c.12958G>C (p.Gly4320Arg) c.12955G>C (p.Gly4319Arg) c.12907G>C (p.Gly4303Arg) c.12604G>C (p.Gly4202Arg) c.13138G>C (p.Gly4380Arg) c.13135G>C (p.Gly4379Arg) c.13117G>C (p.Gly4373Arg) c.13093G>C (p.Gly4365Arg) c.13090G>C (p.Gly4364Arg) c.13087G>C (p.Gly4363Arg) c.13039G>C (p.Gly4347Arg) c.13027G>C (p.Gly4343Arg) c.12889G>C (p.Gly4297Arg) c.12736G>C (p.Gly4246Arg) | |
X | g.53534590C>T | CA413146380 | HUWE1 | c.12541G>A (p.Gly4181Arg) c.12757G>A (p.Gly4253Arg) c.3224G>A n.70G>A c.12730G>A (p.Gly4244Arg) c.13006G>A (p.Gly4336Arg) c.13003G>A (p.Gly4335Arg) c.12961G>A (p.Gly4321Arg) c.12958G>A (p.Gly4320Arg) c.12955G>A (p.Gly4319Arg) c.12907G>A (p.Gly4303Arg) c.12604G>A (p.Gly4202Arg) c.13138G>A (p.Gly4380Arg) c.13135G>A (p.Gly4379Arg) c.13117G>A (p.Gly4373Arg) c.13093G>A (p.Gly4365Arg) c.13090G>A (p.Gly4364Arg) c.13087G>A (p.Gly4363Arg) c.13039G>A (p.Gly4347Arg) c.13027G>A (p.Gly4343Arg) c.12889G>A (p.Gly4297Arg) c.12736G>A (p.Gly4246Arg) | |
X | g.53534591T>A | CA516420513 | HUWE1 | c.12540A>T (p.Ser4180=) c.12756A>T (p.Ser4252=) c.3223A>T n.69A>T c.12729A>T (p.Ser4243=) c.13005A>T (p.Ser4335=) c.13002A>T (p.Ser4334=) c.12960A>T (p.Ser4320=) c.12957A>T (p.Ser4319=) c.12954A>T (p.Ser4318=) c.12906A>T (p.Ser4302=) c.12603A>T (p.Ser4201=) c.13137A>T (p.Ser4379=) c.13134A>T (p.Ser4378=) c.13116A>T (p.Ser4372=) c.13092A>T (p.Ser4364=) c.13089A>T (p.Ser4363=) c.13086A>T (p.Ser4362=) c.13038A>T (p.Ser4346=) c.13026A>T (p.Ser4342=) c.12888A>T (p.Ser4296=) c.12735A>T (p.Ser4245=) | |
X | g.53534591T>C | CA516420515 | HUWE1 | c.12540A>G (p.Ser4180=) c.12756A>G (p.Ser4252=) c.3223A>G n.69A>G c.12729A>G (p.Ser4243=) c.13005A>G (p.Ser4335=) c.13002A>G (p.Ser4334=) c.12960A>G (p.Ser4320=) c.12957A>G (p.Ser4319=) c.12954A>G (p.Ser4318=) c.12906A>G (p.Ser4302=) c.12603A>G (p.Ser4201=) c.13137A>G (p.Ser4379=) c.13134A>G (p.Ser4378=) c.13116A>G (p.Ser4372=) c.13092A>G (p.Ser4364=) c.13089A>G (p.Ser4363=) c.13086A>G (p.Ser4362=) c.13038A>G (p.Ser4346=) c.13026A>G (p.Ser4342=) c.12888A>G (p.Ser4296=) c.12735A>G (p.Ser4245=) | |
X | g.53534591T>G | CA516420517 | HUWE1 | c.12540A>C (p.Ser4180=) c.12756A>C (p.Ser4252=) c.3223A>C n.69A>C c.12729A>C (p.Ser4243=) c.13005A>C (p.Ser4335=) c.13002A>C (p.Ser4334=) c.12960A>C (p.Ser4320=) c.12957A>C (p.Ser4319=) c.12954A>C (p.Ser4318=) c.12906A>C (p.Ser4302=) c.12603A>C (p.Ser4201=) c.13137A>C (p.Ser4379=) c.13134A>C (p.Ser4378=) c.13116A>C (p.Ser4372=) c.13092A>C (p.Ser4364=) c.13089A>C (p.Ser4363=) c.13086A>C (p.Ser4362=) c.13038A>C (p.Ser4346=) c.13026A>C (p.Ser4342=) c.12888A>C (p.Ser4296=) c.12735A>C (p.Ser4245=) | |
X | g.53534592G>A | CA413146383 | HUWE1 | c.12539C>T (p.Ser4180Leu) c.12755C>T (p.Ser4252Leu) c.3222C>T n.68C>T c.12728C>T (p.Ser4243Leu) c.13004C>T (p.Ser4335Leu) c.13001C>T (p.Ser4334Leu) c.12959C>T (p.Ser4320Leu) c.12956C>T (p.Ser4319Leu) c.12953C>T (p.Ser4318Leu) c.12905C>T (p.Ser4302Leu) c.12602C>T (p.Ser4201Leu) c.13136C>T (p.Ser4379Leu) c.13133C>T (p.Ser4378Leu) c.13115C>T (p.Ser4372Leu) c.13091C>T (p.Ser4364Leu) c.13088C>T (p.Ser4363Leu) c.13085C>T (p.Ser4362Leu) c.13037C>T (p.Ser4346Leu) c.13025C>T (p.Ser4342Leu) c.12887C>T (p.Ser4296Leu) c.12734C>T (p.Ser4245Leu) | |
X | g.53534592G>C | CA413146386 | HUWE1 | c.12539C>G (p.Ser4180Ter) c.12755C>G (p.Ser4252Ter) c.3222C>G n.68C>G c.12728C>G (p.Ser4243Ter) c.13004C>G (p.Ser4335Ter) c.13001C>G (p.Ser4334Ter) c.12959C>G (p.Ser4320Ter) c.12956C>G (p.Ser4319Ter) c.12953C>G (p.Ser4318Ter) c.12905C>G (p.Ser4302Ter) c.12602C>G (p.Ser4201Ter) c.13136C>G (p.Ser4379Ter) c.13133C>G (p.Ser4378Ter) c.13115C>G (p.Ser4372Ter) c.13091C>G (p.Ser4364Ter) c.13088C>G (p.Ser4363Ter) c.13085C>G (p.Ser4362Ter) c.13037C>G (p.Ser4346Ter) c.13025C>G (p.Ser4342Ter) c.12887C>G (p.Ser4296Ter) c.12734C>G (p.Ser4245Ter) | |
X | g.53534592G>T | CA413146388 | HUWE1 | c.12539C>A (p.Ser4180Ter) c.12755C>A (p.Ser4252Ter) c.3222C>A n.68C>A c.12728C>A (p.Ser4243Ter) c.13004C>A (p.Ser4335Ter) c.13001C>A (p.Ser4334Ter) c.12959C>A (p.Ser4320Ter) c.12956C>A (p.Ser4319Ter) c.12953C>A (p.Ser4318Ter) c.12905C>A (p.Ser4302Ter) c.12602C>A (p.Ser4201Ter) c.13136C>A (p.Ser4379Ter) c.13133C>A (p.Ser4378Ter) c.13115C>A (p.Ser4372Ter) c.13091C>A (p.Ser4364Ter) c.13088C>A (p.Ser4363Ter) c.13085C>A (p.Ser4362Ter) c.13037C>A (p.Ser4346Ter) c.13025C>A (p.Ser4342Ter) c.12887C>A (p.Ser4296Ter) c.12734C>A (p.Ser4245Ter) | |
X | g.53534593A>C | CA413146393 | HUWE1 | c.12538T>G (p.Ser4180Ala) c.12754T>G (p.Ser4252Ala) c.3221T>G n.67T>G c.12727T>G (p.Ser4243Ala) c.13003T>G (p.Ser4335Ala) c.13000T>G (p.Ser4334Ala) c.12958T>G (p.Ser4320Ala) c.12955T>G (p.Ser4319Ala) c.12952T>G (p.Ser4318Ala) c.12904T>G (p.Ser4302Ala) c.12601T>G (p.Ser4201Ala) c.13135T>G (p.Ser4379Ala) c.13132T>G (p.Ser4378Ala) c.13114T>G (p.Ser4372Ala) c.13090T>G (p.Ser4364Ala) c.13087T>G (p.Ser4363Ala) c.13084T>G (p.Ser4362Ala) c.13036T>G (p.Ser4346Ala) c.13024T>G (p.Ser4342Ala) c.12886T>G (p.Ser4296Ala) c.12733T>G (p.Ser4245Ala) | |
X | g.53534593A>G | CA413146397 | HUWE1 | c.12538T>C (p.Ser4180Pro) c.12754T>C (p.Ser4252Pro) c.3221T>C n.67T>C c.12727T>C (p.Ser4243Pro) c.13003T>C (p.Ser4335Pro) c.13000T>C (p.Ser4334Pro) c.12958T>C (p.Ser4320Pro) c.12955T>C (p.Ser4319Pro) c.12952T>C (p.Ser4318Pro) c.12904T>C (p.Ser4302Pro) c.12601T>C (p.Ser4201Pro) c.13135T>C (p.Ser4379Pro) c.13132T>C (p.Ser4378Pro) c.13114T>C (p.Ser4372Pro) c.13090T>C (p.Ser4364Pro) c.13087T>C (p.Ser4363Pro) c.13084T>C (p.Ser4362Pro) c.13036T>C (p.Ser4346Pro) c.13024T>C (p.Ser4342Pro) c.12886T>C (p.Ser4296Pro) c.12733T>C (p.Ser4245Pro) | |
X | g.53534593A>T | CA413146398 | HUWE1 | c.12538T>A (p.Ser4180Thr) c.12754T>A (p.Ser4252Thr) c.3221T>A n.67T>A c.12727T>A (p.Ser4243Thr) c.13003T>A (p.Ser4335Thr) c.13000T>A (p.Ser4334Thr) c.12958T>A (p.Ser4320Thr) c.12955T>A (p.Ser4319Thr) c.12952T>A (p.Ser4318Thr) c.12904T>A (p.Ser4302Thr) c.12601T>A (p.Ser4201Thr) c.13135T>A (p.Ser4379Thr) c.13132T>A (p.Ser4378Thr) c.13114T>A (p.Ser4372Thr) c.13090T>A (p.Ser4364Thr) c.13087T>A (p.Ser4363Thr) c.13084T>A (p.Ser4362Thr) c.13036T>A (p.Ser4346Thr) c.13024T>A (p.Ser4342Thr) c.12886T>A (p.Ser4296Thr) c.12733T>A (p.Ser4245Thr) | |
X | g.53534594T>A | CA516420525 | HUWE1 | c.12537A>T (p.Ile4179=) c.12753A>T (p.Ile4251=) c.3220A>T n.66A>T c.12726A>T (p.Ile4242=) c.13002A>T (p.Ile4334=) c.12999A>T (p.Ile4333=) c.12957A>T (p.Ile4319=) c.12954A>T (p.Ile4318=) c.12951A>T (p.Ile4317=) c.12903A>T (p.Ile4301=) c.12600A>T (p.Ile4200=) c.13134A>T (p.Ile4378=) c.13131A>T (p.Ile4377=) c.13113A>T (p.Ile4371=) c.13089A>T (p.Ile4363=) c.13086A>T (p.Ile4362=) c.13083A>T (p.Ile4361=) c.13035A>T (p.Ile4345=) c.13023A>T (p.Ile4341=) c.12885A>T (p.Ile4295=) c.12732A>T (p.Ile4244=) | |
X | g.53534594T>C | CA413146401 | HUWE1 | c.12537A>G (p.Ile4179Met) c.12753A>G (p.Ile4251Met) c.3220A>G n.66A>G c.12726A>G (p.Ile4242Met) c.13002A>G (p.Ile4334Met) c.12999A>G (p.Ile4333Met) c.12957A>G (p.Ile4319Met) c.12954A>G (p.Ile4318Met) c.12951A>G (p.Ile4317Met) c.12903A>G (p.Ile4301Met) c.12600A>G (p.Ile4200Met) c.13134A>G (p.Ile4378Met) c.13131A>G (p.Ile4377Met) c.13113A>G (p.Ile4371Met) c.13089A>G (p.Ile4363Met) c.13086A>G (p.Ile4362Met) c.13083A>G (p.Ile4361Met) c.13035A>G (p.Ile4345Met) c.13023A>G (p.Ile4341Met) c.12885A>G (p.Ile4295Met) c.12732A>G (p.Ile4244Met) | |
X | g.53534594T>G | CA516420530 | HUWE1 | c.12537A>C (p.Ile4179=) c.12753A>C (p.Ile4251=) c.3220A>C n.66A>C c.12726A>C (p.Ile4242=) c.13002A>C (p.Ile4334=) c.12999A>C (p.Ile4333=) c.12957A>C (p.Ile4319=) c.12954A>C (p.Ile4318=) c.12951A>C (p.Ile4317=) c.12903A>C (p.Ile4301=) c.12600A>C (p.Ile4200=) c.13134A>C (p.Ile4378=) c.13131A>C (p.Ile4377=) c.13113A>C (p.Ile4371=) c.13089A>C (p.Ile4363=) c.13086A>C (p.Ile4362=) c.13083A>C (p.Ile4361=) c.13035A>C (p.Ile4345=) c.13023A>C (p.Ile4341=) c.12885A>C (p.Ile4295=) c.12732A>C (p.Ile4244=) | |
X | g.53534595A>C | CA413146406 | HUWE1 | c.12536T>G (p.Ile4179Arg) c.12752T>G (p.Ile4251Arg) c.3219T>G n.65T>G c.12725T>G (p.Ile4242Arg) c.13001T>G (p.Ile4334Arg) c.12998T>G (p.Ile4333Arg) c.12956T>G (p.Ile4319Arg) c.12953T>G (p.Ile4318Arg) c.12950T>G (p.Ile4317Arg) c.12902T>G (p.Ile4301Arg) c.12599T>G (p.Ile4200Arg) c.13133T>G (p.Ile4378Arg) c.13130T>G (p.Ile4377Arg) c.13112T>G (p.Ile4371Arg) c.13088T>G (p.Ile4363Arg) c.13085T>G (p.Ile4362Arg) c.13082T>G (p.Ile4361Arg) c.13034T>G (p.Ile4345Arg) c.13022T>G (p.Ile4341Arg) c.12884T>G (p.Ile4295Arg) c.12731T>G (p.Ile4244Arg) | |
X | g.53534595A>G | CA413146409 | HUWE1 | c.12536T>C (p.Ile4179Thr) c.12752T>C (p.Ile4251Thr) c.3219T>C n.65T>C c.12725T>C (p.Ile4242Thr) c.13001T>C (p.Ile4334Thr) c.12998T>C (p.Ile4333Thr) c.12956T>C (p.Ile4319Thr) c.12953T>C (p.Ile4318Thr) c.12950T>C (p.Ile4317Thr) c.12902T>C (p.Ile4301Thr) c.12599T>C (p.Ile4200Thr) c.13133T>C (p.Ile4378Thr) c.13130T>C (p.Ile4377Thr) c.13112T>C (p.Ile4371Thr) c.13088T>C (p.Ile4363Thr) c.13085T>C (p.Ile4362Thr) c.13082T>C (p.Ile4361Thr) c.13034T>C (p.Ile4345Thr) c.13022T>C (p.Ile4341Thr) c.12884T>C (p.Ile4295Thr) c.12731T>C (p.Ile4244Thr) | |
X | g.53534595A>T | CA413146420 | HUWE1 | c.12536T>A (p.Ile4179Lys) c.12752T>A (p.Ile4251Lys) c.3219T>A n.65T>A c.12725T>A (p.Ile4242Lys) c.13001T>A (p.Ile4334Lys) c.12998T>A (p.Ile4333Lys) c.12956T>A (p.Ile4319Lys) c.12953T>A (p.Ile4318Lys) c.12950T>A (p.Ile4317Lys) c.12902T>A (p.Ile4301Lys) c.12599T>A (p.Ile4200Lys) c.13133T>A (p.Ile4378Lys) c.13130T>A (p.Ile4377Lys) c.13112T>A (p.Ile4371Lys) c.13088T>A (p.Ile4363Lys) c.13085T>A (p.Ile4362Lys) c.13082T>A (p.Ile4361Lys) c.13034T>A (p.Ile4345Lys) c.13022T>A (p.Ile4341Lys) c.12884T>A (p.Ile4295Lys) c.12731T>A (p.Ile4244Lys) | |
X | g.53534596T>A | CA413146426 | HUWE1 | c.12535A>T (p.Ile4179Leu) c.12751A>T (p.Ile4251Leu) c.3218A>T n.64A>T c.12724A>T (p.Ile4242Leu) c.13000A>T (p.Ile4334Leu) c.12997A>T (p.Ile4333Leu) c.12955A>T (p.Ile4319Leu) c.12952A>T (p.Ile4318Leu) c.12949A>T (p.Ile4317Leu) c.12901A>T (p.Ile4301Leu) c.12598A>T (p.Ile4200Leu) c.13132A>T (p.Ile4378Leu) c.13129A>T (p.Ile4377Leu) c.13111A>T (p.Ile4371Leu) c.13087A>T (p.Ile4363Leu) c.13084A>T (p.Ile4362Leu) c.13081A>T (p.Ile4361Leu) c.13033A>T (p.Ile4345Leu) c.13021A>T (p.Ile4341Leu) c.12883A>T (p.Ile4295Leu) c.12730A>T (p.Ile4244Leu) | |
X | g.53534596T>C | CA413146429 | HUWE1 | c.12535A>G (p.Ile4179Val) c.12751A>G (p.Ile4251Val) c.3218A>G n.64A>G c.12724A>G (p.Ile4242Val) c.13000A>G (p.Ile4334Val) c.12997A>G (p.Ile4333Val) c.12955A>G (p.Ile4319Val) c.12952A>G (p.Ile4318Val) c.12949A>G (p.Ile4317Val) c.12901A>G (p.Ile4301Val) c.12598A>G (p.Ile4200Val) c.13132A>G (p.Ile4378Val) c.13129A>G (p.Ile4377Val) c.13111A>G (p.Ile4371Val) c.13087A>G (p.Ile4363Val) c.13084A>G (p.Ile4362Val) c.13081A>G (p.Ile4361Val) c.13033A>G (p.Ile4345Val) c.13021A>G (p.Ile4341Val) c.12883A>G (p.Ile4295Val) c.12730A>G (p.Ile4244Val) | |
X | g.53534596T>G | CA413146428 | HUWE1 | c.12535A>C (p.Ile4179Leu) c.12751A>C (p.Ile4251Leu) c.3218A>C n.64A>C c.12724A>C (p.Ile4242Leu) c.13000A>C (p.Ile4334Leu) c.12997A>C (p.Ile4333Leu) c.12955A>C (p.Ile4319Leu) c.12952A>C (p.Ile4318Leu) c.12949A>C (p.Ile4317Leu) c.12901A>C (p.Ile4301Leu) c.12598A>C (p.Ile4200Leu) c.13132A>C (p.Ile4378Leu) c.13129A>C (p.Ile4377Leu) c.13111A>C (p.Ile4371Leu) c.13087A>C (p.Ile4363Leu) c.13084A>C (p.Ile4362Leu) c.13081A>C (p.Ile4361Leu) c.13033A>C (p.Ile4345Leu) c.13021A>C (p.Ile4341Leu) c.12883A>C (p.Ile4295Leu) c.12730A>C (p.Ile4244Leu) | |
X | g.53534597A>C | CA516420537 | HUWE1 | c.12534T>G (p.Leu4178=) c.12750T>G (p.Leu4250=) c.3217T>G n.63T>G c.12723T>G (p.Leu4241=) c.12999T>G (p.Leu4333=) c.12996T>G (p.Leu4332=) c.12954T>G (p.Leu4318=) c.12951T>G (p.Leu4317=) c.12948T>G (p.Leu4316=) c.12900T>G (p.Leu4300=) c.12597T>G (p.Leu4199=) c.13131T>G (p.Leu4377=) c.13128T>G (p.Leu4376=) c.13110T>G (p.Leu4370=) c.13086T>G (p.Leu4362=) c.13083T>G (p.Leu4361=) c.13080T>G (p.Leu4360=) c.13032T>G (p.Leu4344=) c.13020T>G (p.Leu4340=) c.12882T>G (p.Leu4294=) c.12729T>G (p.Leu4243=) | |
X | g.53534597A>G | CA516420538 | HUWE1 | c.12534T>C (p.Leu4178=) c.12750T>C (p.Leu4250=) c.3217T>C n.63T>C c.12723T>C (p.Leu4241=) c.12999T>C (p.Leu4333=) c.12996T>C (p.Leu4332=) c.12954T>C (p.Leu4318=) c.12951T>C (p.Leu4317=) c.12948T>C (p.Leu4316=) c.12900T>C (p.Leu4300=) c.12597T>C (p.Leu4199=) c.13131T>C (p.Leu4377=) c.13128T>C (p.Leu4376=) c.13110T>C (p.Leu4370=) c.13086T>C (p.Leu4362=) c.13083T>C (p.Leu4361=) c.13080T>C (p.Leu4360=) c.13032T>C (p.Leu4344=) c.13020T>C (p.Leu4340=) c.12882T>C (p.Leu4294=) c.12729T>C (p.Leu4243=) | |
X | g.53534597A>T | CA516420539 | HUWE1 | c.12534T>A (p.Leu4178=) c.12750T>A (p.Leu4250=) c.3217T>A n.63T>A c.12723T>A (p.Leu4241=) c.12999T>A (p.Leu4333=) c.12996T>A (p.Leu4332=) c.12954T>A (p.Leu4318=) c.12951T>A (p.Leu4317=) c.12948T>A (p.Leu4316=) c.12900T>A (p.Leu4300=) c.12597T>A (p.Leu4199=) c.13131T>A (p.Leu4377=) c.13128T>A (p.Leu4376=) c.13110T>A (p.Leu4370=) c.13086T>A (p.Leu4362=) c.13083T>A (p.Leu4361=) c.13080T>A (p.Leu4360=) c.13032T>A (p.Leu4344=) c.13020T>A (p.Leu4340=) c.12882T>A (p.Leu4294=) c.12729T>A (p.Leu4243=) | |
X | g.53534598A>C | CA413146432 | HUWE1 | c.12533T>G (p.Leu4178Arg) c.12749T>G (p.Leu4250Arg) c.3216T>G n.62T>G c.12722T>G (p.Leu4241Arg) c.12998T>G (p.Leu4333Arg) c.12995T>G (p.Leu4332Arg) c.12953T>G (p.Leu4318Arg) c.12950T>G (p.Leu4317Arg) c.12947T>G (p.Leu4316Arg) c.12899T>G (p.Leu4300Arg) c.12596T>G (p.Leu4199Arg) c.13130T>G (p.Leu4377Arg) c.13127T>G (p.Leu4376Arg) c.13109T>G (p.Leu4370Arg) c.13085T>G (p.Leu4362Arg) c.13082T>G (p.Leu4361Arg) c.13079T>G (p.Leu4360Arg) c.13031T>G (p.Leu4344Arg) c.13019T>G (p.Leu4340Arg) c.12881T>G (p.Leu4294Arg) c.12728T>G (p.Leu4243Arg) | |
X | g.53534598A>G | CA413146436 | HUWE1 | c.12533T>C (p.Leu4178Pro) c.12749T>C (p.Leu4250Pro) c.3216T>C n.62T>C c.12722T>C (p.Leu4241Pro) c.12998T>C (p.Leu4333Pro) c.12995T>C (p.Leu4332Pro) c.12953T>C (p.Leu4318Pro) c.12950T>C (p.Leu4317Pro) c.12947T>C (p.Leu4316Pro) c.12899T>C (p.Leu4300Pro) c.12596T>C (p.Leu4199Pro) c.13130T>C (p.Leu4377Pro) c.13127T>C (p.Leu4376Pro) c.13109T>C (p.Leu4370Pro) c.13085T>C (p.Leu4362Pro) c.13082T>C (p.Leu4361Pro) c.13079T>C (p.Leu4360Pro) c.13031T>C (p.Leu4344Pro) c.13019T>C (p.Leu4340Pro) c.12881T>C (p.Leu4294Pro) c.12728T>C (p.Leu4243Pro) | |
X | g.53534598A>T | CA413146437 | HUWE1 | c.12533T>A (p.Leu4178His) c.12749T>A (p.Leu4250His) c.3216T>A n.62T>A c.12722T>A (p.Leu4241His) c.12998T>A (p.Leu4333His) c.12995T>A (p.Leu4332His) c.12953T>A (p.Leu4318His) c.12950T>A (p.Leu4317His) c.12947T>A (p.Leu4316His) c.12899T>A (p.Leu4300His) c.12596T>A (p.Leu4199His) c.13130T>A (p.Leu4377His) c.13127T>A (p.Leu4376His) c.13109T>A (p.Leu4370His) c.13085T>A (p.Leu4362His) c.13082T>A (p.Leu4361His) c.13079T>A (p.Leu4360His) c.13031T>A (p.Leu4344His) c.13019T>A (p.Leu4340His) c.12881T>A (p.Leu4294His) c.12728T>A (p.Leu4243His) | |
X | g.53534599G>A | CA413146442 | HUWE1 | c.12532C>T (p.Leu4178Phe) c.12748C>T (p.Leu4250Phe) c.3215C>T n.61C>T c.12721C>T (p.Leu4241Phe) c.12997C>T (p.Leu4333Phe) c.12994C>T (p.Leu4332Phe) c.12952C>T (p.Leu4318Phe) c.12949C>T (p.Leu4317Phe) c.12946C>T (p.Leu4316Phe) c.12898C>T (p.Leu4300Phe) c.12595C>T (p.Leu4199Phe) c.13129C>T (p.Leu4377Phe) c.13126C>T (p.Leu4376Phe) c.13108C>T (p.Leu4370Phe) c.13084C>T (p.Leu4362Phe) c.13081C>T (p.Leu4361Phe) c.13078C>T (p.Leu4360Phe) c.13030C>T (p.Leu4344Phe) c.13018C>T (p.Leu4340Phe) c.12880C>T (p.Leu4294Phe) c.12727C>T (p.Leu4243Phe) | |
X | g.53534599G>C | CA413146445 | HUWE1 | c.12532C>G (p.Leu4178Val) c.12748C>G (p.Leu4250Val) c.3215C>G n.61C>G c.12721C>G (p.Leu4241Val) c.12997C>G (p.Leu4333Val) c.12994C>G (p.Leu4332Val) c.12952C>G (p.Leu4318Val) c.12949C>G (p.Leu4317Val) c.12946C>G (p.Leu4316Val) c.12898C>G (p.Leu4300Val) c.12595C>G (p.Leu4199Val) c.13129C>G (p.Leu4377Val) c.13126C>G (p.Leu4376Val) c.13108C>G (p.Leu4370Val) c.13084C>G (p.Leu4362Val) c.13081C>G (p.Leu4361Val) c.13078C>G (p.Leu4360Val) c.13030C>G (p.Leu4344Val) c.13018C>G (p.Leu4340Val) c.12880C>G (p.Leu4294Val) c.12727C>G (p.Leu4243Val) | |
X | g.53534599G>T | CA413146447 | HUWE1 | c.12532C>A (p.Leu4178Ile) c.12748C>A (p.Leu4250Ile) c.3215C>A n.61C>A c.12721C>A (p.Leu4241Ile) c.12997C>A (p.Leu4333Ile) c.12994C>A (p.Leu4332Ile) c.12952C>A (p.Leu4318Ile) c.12949C>A (p.Leu4317Ile) c.12946C>A (p.Leu4316Ile) c.12898C>A (p.Leu4300Ile) c.12595C>A (p.Leu4199Ile) c.13129C>A (p.Leu4377Ile) c.13126C>A (p.Leu4376Ile) c.13108C>A (p.Leu4370Ile) c.13084C>A (p.Leu4362Ile) c.13081C>A (p.Leu4361Ile) c.13078C>A (p.Leu4360Ile) c.13030C>A (p.Leu4344Ile) c.13018C>A (p.Leu4340Ile) c.12880C>A (p.Leu4294Ile) c.12727C>A (p.Leu4243Ile) | |
X | g.53534600C>A | CA516420542 | HUWE1 | c.12531G>T (p.Leu4177=) c.12747G>T (p.Leu4249=) c.3214G>T n.60G>T c.12720G>T (p.Leu4240=) c.12996G>T (p.Leu4332=) c.12993G>T (p.Leu4331=) c.12951G>T (p.Leu4317=) c.12948G>T (p.Leu4316=) c.12945G>T (p.Leu4315=) c.12897G>T (p.Leu4299=) c.12594G>T (p.Leu4198=) c.13128G>T (p.Leu4376=) c.13125G>T (p.Leu4375=) c.13107G>T (p.Leu4369=) c.13083G>T (p.Leu4361=) c.13080G>T (p.Leu4360=) c.13077G>T (p.Leu4359=) c.13029G>T (p.Leu4343=) c.13017G>T (p.Leu4339=) c.12879G>T (p.Leu4293=) c.12726G>T (p.Leu4242=) | dbSNP gnomAD v4 |
X | g.53534600C= | CA2429869113 | HUWE1 | c.12531G= (p.Leu4177=) c.12747G= (p.Leu4249=) c.3214G= n.60G= c.12720G= (p.Leu4240=) c.12996G= (p.Leu4332=) c.12993G= (p.Leu4331=) c.12951G= (p.Leu4317=) c.12948G= (p.Leu4316=) c.12945G= (p.Leu4315=) c.12897G= (p.Leu4299=) c.12594G= (p.Leu4198=) c.13128G= (p.Leu4376=) c.13125G= (p.Leu4375=) c.13107G= (p.Leu4369=) c.13083G= (p.Leu4361=) c.13080G= (p.Leu4360=) c.13077G= (p.Leu4359=) c.13029G= (p.Leu4343=) c.13017G= (p.Leu4339=) c.12879G= (p.Leu4293=) c.12726G= (p.Leu4242=) | |
X | g.53534600C>G | CA516420544 | HUWE1 | c.12531G>C (p.Leu4177=) c.12747G>C (p.Leu4249=) c.3214G>C n.60G>C c.12720G>C (p.Leu4240=) c.12996G>C (p.Leu4332=) c.12993G>C (p.Leu4331=) c.12951G>C (p.Leu4317=) c.12948G>C (p.Leu4316=) c.12945G>C (p.Leu4315=) c.12897G>C (p.Leu4299=) c.12594G>C (p.Leu4198=) c.13128G>C (p.Leu4376=) c.13125G>C (p.Leu4375=) c.13107G>C (p.Leu4369=) c.13083G>C (p.Leu4361=) c.13080G>C (p.Leu4360=) c.13077G>C (p.Leu4359=) c.13029G>C (p.Leu4343=) c.13017G>C (p.Leu4339=) c.12879G>C (p.Leu4293=) c.12726G>C (p.Leu4242=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53534600C>T | CA516420550 | HUWE1 | c.12531G>A (p.Leu4177=) c.12747G>A (p.Leu4249=) c.3214G>A n.60G>A c.12720G>A (p.Leu4240=) c.12996G>A (p.Leu4332=) c.12993G>A (p.Leu4331=) c.12951G>A (p.Leu4317=) c.12948G>A (p.Leu4316=) c.12945G>A (p.Leu4315=) c.12897G>A (p.Leu4299=) c.12594G>A (p.Leu4198=) c.13128G>A (p.Leu4376=) c.13125G>A (p.Leu4375=) c.13107G>A (p.Leu4369=) c.13083G>A (p.Leu4361=) c.13080G>A (p.Leu4360=) c.13077G>A (p.Leu4359=) c.13029G>A (p.Leu4343=) c.13017G>A (p.Leu4339=) c.12879G>A (p.Leu4293=) c.12726G>A (p.Leu4242=) | |
X | g.53534601A>C | CA413146451 | HUWE1 | c.12530T>G (p.Leu4177Arg) c.12746T>G (p.Leu4249Arg) c.3213T>G n.59T>G c.12719T>G (p.Leu4240Arg) c.12995T>G (p.Leu4332Arg) c.12992T>G (p.Leu4331Arg) c.12950T>G (p.Leu4317Arg) c.12947T>G (p.Leu4316Arg) c.12944T>G (p.Leu4315Arg) c.12896T>G (p.Leu4299Arg) c.12593T>G (p.Leu4198Arg) c.13127T>G (p.Leu4376Arg) c.13124T>G (p.Leu4375Arg) c.13106T>G (p.Leu4369Arg) c.13082T>G (p.Leu4361Arg) c.13079T>G (p.Leu4360Arg) c.13076T>G (p.Leu4359Arg) c.13028T>G (p.Leu4343Arg) c.13016T>G (p.Leu4339Arg) c.12878T>G (p.Leu4293Arg) c.12725T>G (p.Leu4242Arg) | |
X | g.53534601A>G | CA413146454 | HUWE1 | c.12530T>C (p.Leu4177Pro) c.12746T>C (p.Leu4249Pro) c.3213T>C n.59T>C c.12719T>C (p.Leu4240Pro) c.12995T>C (p.Leu4332Pro) c.12992T>C (p.Leu4331Pro) c.12950T>C (p.Leu4317Pro) c.12947T>C (p.Leu4316Pro) c.12944T>C (p.Leu4315Pro) c.12896T>C (p.Leu4299Pro) c.12593T>C (p.Leu4198Pro) c.13127T>C (p.Leu4376Pro) c.13124T>C (p.Leu4375Pro) c.13106T>C (p.Leu4369Pro) c.13082T>C (p.Leu4361Pro) c.13079T>C (p.Leu4360Pro) c.13076T>C (p.Leu4359Pro) c.13028T>C (p.Leu4343Pro) c.13016T>C (p.Leu4339Pro) c.12878T>C (p.Leu4293Pro) c.12725T>C (p.Leu4242Pro) | |
X | g.53534601A>T | CA413146457 | HUWE1 | c.12530T>A (p.Leu4177Gln) c.12746T>A (p.Leu4249Gln) c.3213T>A n.59T>A c.12719T>A (p.Leu4240Gln) c.12995T>A (p.Leu4332Gln) c.12992T>A (p.Leu4331Gln) c.12950T>A (p.Leu4317Gln) c.12947T>A (p.Leu4316Gln) c.12944T>A (p.Leu4315Gln) c.12896T>A (p.Leu4299Gln) c.12593T>A (p.Leu4198Gln) c.13127T>A (p.Leu4376Gln) c.13124T>A (p.Leu4375Gln) c.13106T>A (p.Leu4369Gln) c.13082T>A (p.Leu4361Gln) c.13079T>A (p.Leu4360Gln) c.13076T>A (p.Leu4359Gln) c.13028T>A (p.Leu4343Gln) c.13016T>A (p.Leu4339Gln) c.12878T>A (p.Leu4293Gln) c.12725T>A (p.Leu4242Gln) | |
X | g.53534602G>A | CA516420557 | HUWE1 | c.12529C>T (p.Leu4177=) c.12745C>T (p.Leu4249=) c.3212C>T n.58C>T c.12718C>T (p.Leu4240=) c.12994C>T (p.Leu4332=) c.12991C>T (p.Leu4331=) c.12949C>T (p.Leu4317=) c.12946C>T (p.Leu4316=) c.12943C>T (p.Leu4315=) c.12895C>T (p.Leu4299=) c.12592C>T (p.Leu4198=) c.13126C>T (p.Leu4376=) c.13123C>T (p.Leu4375=) c.13105C>T (p.Leu4369=) c.13081C>T (p.Leu4361=) c.13078C>T (p.Leu4360=) c.13075C>T (p.Leu4359=) c.13027C>T (p.Leu4343=) c.13015C>T (p.Leu4339=) c.12877C>T (p.Leu4293=) c.12724C>T (p.Leu4242=) | dbSNP gnomAD v4 |
X | g.53534602G>C | CA413146461 | HUWE1 | c.12529C>G (p.Leu4177Val) c.12745C>G (p.Leu4249Val) c.3212C>G n.58C>G c.12718C>G (p.Leu4240Val) c.12994C>G (p.Leu4332Val) c.12991C>G (p.Leu4331Val) c.12949C>G (p.Leu4317Val) c.12946C>G (p.Leu4316Val) c.12943C>G (p.Leu4315Val) c.12895C>G (p.Leu4299Val) c.12592C>G (p.Leu4198Val) c.13126C>G (p.Leu4376Val) c.13123C>G (p.Leu4375Val) c.13105C>G (p.Leu4369Val) c.13081C>G (p.Leu4361Val) c.13078C>G (p.Leu4360Val) c.13075C>G (p.Leu4359Val) c.13027C>G (p.Leu4343Val) c.13015C>G (p.Leu4339Val) c.12877C>G (p.Leu4293Val) c.12724C>G (p.Leu4242Val) | |
X | g.53534602G= | CA2429869114 | HUWE1 | c.12529C= (p.Leu4177=) c.12745C= (p.Leu4249=) c.3212C= n.58C= c.12718C= (p.Leu4240=) c.12994C= (p.Leu4332=) c.12991C= (p.Leu4331=) c.12949C= (p.Leu4317=) c.12946C= (p.Leu4316=) c.12943C= (p.Leu4315=) c.12895C= (p.Leu4299=) c.12592C= (p.Leu4198=) c.13126C= (p.Leu4376=) c.13123C= (p.Leu4375=) c.13105C= (p.Leu4369=) c.13081C= (p.Leu4361=) c.13078C= (p.Leu4360=) c.13075C= (p.Leu4359=) c.13027C= (p.Leu4343=) c.13015C= (p.Leu4339=) c.12877C= (p.Leu4293=) c.12724C= (p.Leu4242=) | |
X | g.53534602G>T | CA413146464 | HUWE1 | c.12529C>A (p.Leu4177Met) c.12745C>A (p.Leu4249Met) c.3212C>A n.58C>A c.12718C>A (p.Leu4240Met) c.12994C>A (p.Leu4332Met) c.12991C>A (p.Leu4331Met) c.12949C>A (p.Leu4317Met) c.12946C>A (p.Leu4316Met) c.12943C>A (p.Leu4315Met) c.12895C>A (p.Leu4299Met) c.12592C>A (p.Leu4198Met) c.13126C>A (p.Leu4376Met) c.13123C>A (p.Leu4375Met) c.13105C>A (p.Leu4369Met) c.13081C>A (p.Leu4361Met) c.13078C>A (p.Leu4360Met) c.13075C>A (p.Leu4359Met) c.13027C>A (p.Leu4343Met) c.13015C>A (p.Leu4339Met) c.12877C>A (p.Leu4293Met) c.12724C>A (p.Leu4242Met) | |
X | g.53534603C>A | CA413146468 | HUWE1 | c.12528G>T (p.Glu4176Asp) c.12744G>T (p.Glu4248Asp) c.3211G>T n.57G>T c.12717G>T (p.Glu4239Asp) c.12993G>T (p.Glu4331Asp) c.12990G>T (p.Glu4330Asp) c.12948G>T (p.Glu4316Asp) c.12945G>T (p.Glu4315Asp) c.12942G>T (p.Glu4314Asp) c.12894G>T (p.Glu4298Asp) c.12591G>T (p.Glu4197Asp) c.13125G>T (p.Glu4375Asp) c.13122G>T (p.Glu4374Asp) c.13104G>T (p.Glu4368Asp) c.13080G>T (p.Glu4360Asp) c.13077G>T (p.Glu4359Asp) c.13074G>T (p.Glu4358Asp) c.13026G>T (p.Glu4342Asp) c.13014G>T (p.Glu4338Asp) c.12876G>T (p.Glu4292Asp) c.12723G>T (p.Glu4241Asp) | |
X | g.53534603C>G | CA413146472 | HUWE1 | c.12528G>C (p.Glu4176Asp) c.12744G>C (p.Glu4248Asp) c.3211G>C n.57G>C c.12717G>C (p.Glu4239Asp) c.12993G>C (p.Glu4331Asp) c.12990G>C (p.Glu4330Asp) c.12948G>C (p.Glu4316Asp) c.12945G>C (p.Glu4315Asp) c.12942G>C (p.Glu4314Asp) c.12894G>C (p.Glu4298Asp) c.12591G>C (p.Glu4197Asp) c.13125G>C (p.Glu4375Asp) c.13122G>C (p.Glu4374Asp) c.13104G>C (p.Glu4368Asp) c.13080G>C (p.Glu4360Asp) c.13077G>C (p.Glu4359Asp) c.13074G>C (p.Glu4358Asp) c.13026G>C (p.Glu4342Asp) c.13014G>C (p.Glu4338Asp) c.12876G>C (p.Glu4292Asp) c.12723G>C (p.Glu4241Asp) | |
X | g.53534603C>T | CA516420572 | HUWE1 | c.12528G>A (p.Glu4176=) c.12744G>A (p.Glu4248=) c.3211G>A n.57G>A c.12717G>A (p.Glu4239=) c.12993G>A (p.Glu4331=) c.12990G>A (p.Glu4330=) c.12948G>A (p.Glu4316=) c.12945G>A (p.Glu4315=) c.12942G>A (p.Glu4314=) c.12894G>A (p.Glu4298=) c.12591G>A (p.Glu4197=) c.13125G>A (p.Glu4375=) c.13122G>A (p.Glu4374=) c.13104G>A (p.Glu4368=) c.13080G>A (p.Glu4360=) c.13077G>A (p.Glu4359=) c.13074G>A (p.Glu4358=) c.13026G>A (p.Glu4342=) c.13014G>A (p.Glu4338=) c.12876G>A (p.Glu4292=) c.12723G>A (p.Glu4241=) | |
X | g.53534604T>A | CA413146477 | HUWE1 | c.12527A>T (p.Glu4176Val) c.12743A>T (p.Glu4248Val) c.3210A>T n.56A>T c.12716A>T (p.Glu4239Val) c.12992A>T (p.Glu4331Val) c.12989A>T (p.Glu4330Val) c.12947A>T (p.Glu4316Val) c.12944A>T (p.Glu4315Val) c.12941A>T (p.Glu4314Val) c.12893A>T (p.Glu4298Val) c.12590A>T (p.Glu4197Val) c.13124A>T (p.Glu4375Val) c.13121A>T (p.Glu4374Val) c.13103A>T (p.Glu4368Val) c.13079A>T (p.Glu4360Val) c.13076A>T (p.Glu4359Val) c.13073A>T (p.Glu4358Val) c.13025A>T (p.Glu4342Val) c.13013A>T (p.Glu4338Val) c.12875A>T (p.Glu4292Val) c.12722A>T (p.Glu4241Val) | |
X | g.53534604T>C | CA413146480 | HUWE1 | c.12527A>G (p.Glu4176Gly) c.12743A>G (p.Glu4248Gly) c.3210A>G n.56A>G c.12716A>G (p.Glu4239Gly) c.12992A>G (p.Glu4331Gly) c.12989A>G (p.Glu4330Gly) c.12947A>G (p.Glu4316Gly) c.12944A>G (p.Glu4315Gly) c.12941A>G (p.Glu4314Gly) c.12893A>G (p.Glu4298Gly) c.12590A>G (p.Glu4197Gly) c.13124A>G (p.Glu4375Gly) c.13121A>G (p.Glu4374Gly) c.13103A>G (p.Glu4368Gly) c.13079A>G (p.Glu4360Gly) c.13076A>G (p.Glu4359Gly) c.13073A>G (p.Glu4358Gly) c.13025A>G (p.Glu4342Gly) c.13013A>G (p.Glu4338Gly) c.12875A>G (p.Glu4292Gly) c.12722A>G (p.Glu4241Gly) | |
X | g.53534604T>G | CA413146483 | HUWE1 | c.12527A>C (p.Glu4176Ala) c.12743A>C (p.Glu4248Ala) c.3210A>C n.56A>C c.12716A>C (p.Glu4239Ala) c.12992A>C (p.Glu4331Ala) c.12989A>C (p.Glu4330Ala) c.12947A>C (p.Glu4316Ala) c.12944A>C (p.Glu4315Ala) c.12941A>C (p.Glu4314Ala) c.12893A>C (p.Glu4298Ala) c.12590A>C (p.Glu4197Ala) c.13124A>C (p.Glu4375Ala) c.13121A>C (p.Glu4374Ala) c.13103A>C (p.Glu4368Ala) c.13079A>C (p.Glu4360Ala) c.13076A>C (p.Glu4359Ala) c.13073A>C (p.Glu4358Ala) c.13025A>C (p.Glu4342Ala) c.13013A>C (p.Glu4338Ala) c.12875A>C (p.Glu4292Ala) c.12722A>C (p.Glu4241Ala) | |
X | g.53534605C>A | CA413146492 | HUWE1 | c.12526G>T (p.Glu4176Ter) c.12742G>T (p.Glu4248Ter) c.3209G>T n.55G>T c.12715G>T (p.Glu4239Ter) c.12991G>T (p.Glu4331Ter) c.12988G>T (p.Glu4330Ter) c.12946G>T (p.Glu4316Ter) c.12943G>T (p.Glu4315Ter) c.12940G>T (p.Glu4314Ter) c.12892G>T (p.Glu4298Ter) c.12589G>T (p.Glu4197Ter) c.13123G>T (p.Glu4375Ter) c.13120G>T (p.Glu4374Ter) c.13102G>T (p.Glu4368Ter) c.13078G>T (p.Glu4360Ter) c.13075G>T (p.Glu4359Ter) c.13072G>T (p.Glu4358Ter) c.13024G>T (p.Glu4342Ter) c.13012G>T (p.Glu4338Ter) c.12874G>T (p.Glu4292Ter) c.12721G>T (p.Glu4241Ter) | |
X | g.53534605C>G | CA413146494 | HUWE1 | c.12526G>C (p.Glu4176Gln) c.12742G>C (p.Glu4248Gln) c.3209G>C n.55G>C c.12715G>C (p.Glu4239Gln) c.12991G>C (p.Glu4331Gln) c.12988G>C (p.Glu4330Gln) c.12946G>C (p.Glu4316Gln) c.12943G>C (p.Glu4315Gln) c.12940G>C (p.Glu4314Gln) c.12892G>C (p.Glu4298Gln) c.12589G>C (p.Glu4197Gln) c.13123G>C (p.Glu4375Gln) c.13120G>C (p.Glu4374Gln) c.13102G>C (p.Glu4368Gln) c.13078G>C (p.Glu4360Gln) c.13075G>C (p.Glu4359Gln) c.13072G>C (p.Glu4358Gln) c.13024G>C (p.Glu4342Gln) c.13012G>C (p.Glu4338Gln) c.12874G>C (p.Glu4292Gln) c.12721G>C (p.Glu4241Gln) | gnomAD v4 |
X | g.53534605C>T | CA413146497 | HUWE1 | c.12526G>A (p.Glu4176Lys) c.12742G>A (p.Glu4248Lys) c.3209G>A n.55G>A c.12715G>A (p.Glu4239Lys) c.12991G>A (p.Glu4331Lys) c.12988G>A (p.Glu4330Lys) c.12946G>A (p.Glu4316Lys) c.12943G>A (p.Glu4315Lys) c.12940G>A (p.Glu4314Lys) c.12892G>A (p.Glu4298Lys) c.12589G>A (p.Glu4197Lys) c.13123G>A (p.Glu4375Lys) c.13120G>A (p.Glu4374Lys) c.13102G>A (p.Glu4368Lys) c.13078G>A (p.Glu4360Lys) c.13075G>A (p.Glu4359Lys) c.13072G>A (p.Glu4358Lys) c.13024G>A (p.Glu4342Lys) c.13012G>A (p.Glu4338Lys) c.12874G>A (p.Glu4292Lys) c.12721G>A (p.Glu4241Lys) | COSMIC COSMIC |
X | g.53534606T>A | CA413146501 | HUWE1 | c.12525A>T (p.Leu4175Phe) c.12741A>T (p.Leu4247Phe) c.3208A>T n.54A>T c.12714A>T (p.Leu4238Phe) c.12990A>T (p.Leu4330Phe) c.12987A>T (p.Leu4329Phe) c.12945A>T (p.Leu4315Phe) c.12942A>T (p.Leu4314Phe) c.12939A>T (p.Leu4313Phe) c.12891A>T (p.Leu4297Phe) c.12588A>T (p.Leu4196Phe) c.13122A>T (p.Leu4374Phe) c.13119A>T (p.Leu4373Phe) c.13101A>T (p.Leu4367Phe) c.13077A>T (p.Leu4359Phe) c.13074A>T (p.Leu4358Phe) c.13071A>T (p.Leu4357Phe) c.13023A>T (p.Leu4341Phe) c.13011A>T (p.Leu4337Phe) c.12873A>T (p.Leu4291Phe) c.12720A>T (p.Leu4240Phe) | COSMIC |
X | g.53534606T>C | CA516420575 | HUWE1 | c.12525A>G (p.Leu4175=) c.12741A>G (p.Leu4247=) c.3208A>G n.54A>G c.12714A>G (p.Leu4238=) c.12990A>G (p.Leu4330=) c.12987A>G (p.Leu4329=) c.12945A>G (p.Leu4315=) c.12942A>G (p.Leu4314=) c.12939A>G (p.Leu4313=) c.12891A>G (p.Leu4297=) c.12588A>G (p.Leu4196=) c.13122A>G (p.Leu4374=) c.13119A>G (p.Leu4373=) c.13101A>G (p.Leu4367=) c.13077A>G (p.Leu4359=) c.13074A>G (p.Leu4358=) c.13071A>G (p.Leu4357=) c.13023A>G (p.Leu4341=) c.13011A>G (p.Leu4337=) c.12873A>G (p.Leu4291=) c.12720A>G (p.Leu4240=) | |
X | g.53534606T>G | CA413146504 | HUWE1 | c.12525A>C (p.Leu4175Phe) c.12741A>C (p.Leu4247Phe) c.3208A>C n.54A>C c.12714A>C (p.Leu4238Phe) c.12990A>C (p.Leu4330Phe) c.12987A>C (p.Leu4329Phe) c.12945A>C (p.Leu4315Phe) c.12942A>C (p.Leu4314Phe) c.12939A>C (p.Leu4313Phe) c.12891A>C (p.Leu4297Phe) c.12588A>C (p.Leu4196Phe) c.13122A>C (p.Leu4374Phe) c.13119A>C (p.Leu4373Phe) c.13101A>C (p.Leu4367Phe) c.13077A>C (p.Leu4359Phe) c.13074A>C (p.Leu4358Phe) c.13071A>C (p.Leu4357Phe) c.13023A>C (p.Leu4341Phe) c.13011A>C (p.Leu4337Phe) c.12873A>C (p.Leu4291Phe) c.12720A>C (p.Leu4240Phe) | gnomAD v4 |
X | g.53534607A>C | CA413146508 | HUWE1 | c.12524T>G (p.Leu4175Ter) c.12740T>G (p.Leu4247Ter) c.3207T>G n.53T>G c.12713T>G (p.Leu4238Ter) c.12989T>G (p.Leu4330Ter) c.12986T>G (p.Leu4329Ter) c.12944T>G (p.Leu4315Ter) c.12941T>G (p.Leu4314Ter) c.12938T>G (p.Leu4313Ter) c.12890T>G (p.Leu4297Ter) c.12587T>G (p.Leu4196Ter) c.13121T>G (p.Leu4374Ter) c.13118T>G (p.Leu4373Ter) c.13100T>G (p.Leu4367Ter) c.13076T>G (p.Leu4359Ter) c.13073T>G (p.Leu4358Ter) c.13070T>G (p.Leu4357Ter) c.13022T>G (p.Leu4341Ter) c.13010T>G (p.Leu4337Ter) c.12872T>G (p.Leu4291Ter) c.12719T>G (p.Leu4240Ter) | |
X | g.53534607A>G | CA413146512 | HUWE1 | c.12524T>C (p.Leu4175Ser) c.12740T>C (p.Leu4247Ser) c.3207T>C n.53T>C c.12713T>C (p.Leu4238Ser) c.12989T>C (p.Leu4330Ser) c.12986T>C (p.Leu4329Ser) c.12944T>C (p.Leu4315Ser) c.12941T>C (p.Leu4314Ser) c.12938T>C (p.Leu4313Ser) c.12890T>C (p.Leu4297Ser) c.12587T>C (p.Leu4196Ser) c.13121T>C (p.Leu4374Ser) c.13118T>C (p.Leu4373Ser) c.13100T>C (p.Leu4367Ser) c.13076T>C (p.Leu4359Ser) c.13073T>C (p.Leu4358Ser) c.13070T>C (p.Leu4357Ser) c.13022T>C (p.Leu4341Ser) c.13010T>C (p.Leu4337Ser) c.12872T>C (p.Leu4291Ser) c.12719T>C (p.Leu4240Ser) | |
X | g.53534607A>T | CA413146515 | HUWE1 | c.12524T>A (p.Leu4175Ter) c.12740T>A (p.Leu4247Ter) c.3207T>A n.53T>A c.12713T>A (p.Leu4238Ter) c.12989T>A (p.Leu4330Ter) c.12986T>A (p.Leu4329Ter) c.12944T>A (p.Leu4315Ter) c.12941T>A (p.Leu4314Ter) c.12938T>A (p.Leu4313Ter) c.12890T>A (p.Leu4297Ter) c.12587T>A (p.Leu4196Ter) c.13121T>A (p.Leu4374Ter) c.13118T>A (p.Leu4373Ter) c.13100T>A (p.Leu4367Ter) c.13076T>A (p.Leu4359Ter) c.13073T>A (p.Leu4358Ter) c.13070T>A (p.Leu4357Ter) c.13022T>A (p.Leu4341Ter) c.13010T>A (p.Leu4337Ter) c.12872T>A (p.Leu4291Ter) c.12719T>A (p.Leu4240Ter) | |
X | g.53534608A>C | CA413146518 | HUWE1 | c.12523T>G (p.Leu4175Val) c.12739T>G (p.Leu4247Val) c.3206T>G n.52T>G c.12712T>G (p.Leu4238Val) c.12988T>G (p.Leu4330Val) c.12985T>G (p.Leu4329Val) c.12943T>G (p.Leu4315Val) c.12940T>G (p.Leu4314Val) c.12937T>G (p.Leu4313Val) c.12889T>G (p.Leu4297Val) c.12586T>G (p.Leu4196Val) c.13120T>G (p.Leu4374Val) c.13117T>G (p.Leu4373Val) c.13099T>G (p.Leu4367Val) c.13075T>G (p.Leu4359Val) c.13072T>G (p.Leu4358Val) c.13069T>G (p.Leu4357Val) c.13021T>G (p.Leu4341Val) c.13009T>G (p.Leu4337Val) c.12871T>G (p.Leu4291Val) c.12718T>G (p.Leu4240Val) | |
X | g.53534608A>G | CA516420579 | HUWE1 | c.12523T>C (p.Leu4175=) c.12739T>C (p.Leu4247=) c.3206T>C n.52T>C c.12712T>C (p.Leu4238=) c.12988T>C (p.Leu4330=) c.12985T>C (p.Leu4329=) c.12943T>C (p.Leu4315=) c.12940T>C (p.Leu4314=) c.12937T>C (p.Leu4313=) c.12889T>C (p.Leu4297=) c.12586T>C (p.Leu4196=) c.13120T>C (p.Leu4374=) c.13117T>C (p.Leu4373=) c.13099T>C (p.Leu4367=) c.13075T>C (p.Leu4359=) c.13072T>C (p.Leu4358=) c.13069T>C (p.Leu4357=) c.13021T>C (p.Leu4341=) c.13009T>C (p.Leu4337=) c.12871T>C (p.Leu4291=) c.12718T>C (p.Leu4240=) | |
X | g.53534608A>T | CA413146521 | HUWE1 | c.12523T>A (p.Leu4175Ile) c.12739T>A (p.Leu4247Ile) c.3206T>A n.52T>A c.12712T>A (p.Leu4238Ile) c.12988T>A (p.Leu4330Ile) c.12985T>A (p.Leu4329Ile) c.12943T>A (p.Leu4315Ile) c.12940T>A (p.Leu4314Ile) c.12937T>A (p.Leu4313Ile) c.12889T>A (p.Leu4297Ile) c.12586T>A (p.Leu4196Ile) c.13120T>A (p.Leu4374Ile) c.13117T>A (p.Leu4373Ile) c.13099T>A (p.Leu4367Ile) c.13075T>A (p.Leu4359Ile) c.13072T>A (p.Leu4358Ile) c.13069T>A (p.Leu4357Ile) c.13021T>A (p.Leu4341Ile) c.13009T>A (p.Leu4337Ile) c.12871T>A (p.Leu4291Ile) c.12718T>A (p.Leu4240Ile) | |
X | g.53534609C>A | CA413146528 | HUWE1 | c.12522G>T (p.Glu4174Asp) c.12738G>T (p.Glu4246Asp) c.3205G>T n.51G>T c.12711G>T (p.Glu4237Asp) c.12987G>T (p.Glu4329Asp) c.12984G>T (p.Glu4328Asp) c.12942G>T (p.Glu4314Asp) c.12939G>T (p.Glu4313Asp) c.12936G>T (p.Glu4312Asp) c.12888G>T (p.Glu4296Asp) c.12585G>T (p.Glu4195Asp) c.13119G>T (p.Glu4373Asp) c.13116G>T (p.Glu4372Asp) c.13098G>T (p.Glu4366Asp) c.13074G>T (p.Glu4358Asp) c.13071G>T (p.Glu4357Asp) c.13068G>T (p.Glu4356Asp) c.13020G>T (p.Glu4340Asp) c.13008G>T (p.Glu4336Asp) c.12870G>T (p.Glu4290Asp) c.12717G>T (p.Glu4239Asp) | |
X | g.53534609C>G | CA413146525 | HUWE1 | c.12522G>C (p.Glu4174Asp) c.12738G>C (p.Glu4246Asp) c.3205G>C n.51G>C c.12711G>C (p.Glu4237Asp) c.12987G>C (p.Glu4329Asp) c.12984G>C (p.Glu4328Asp) c.12942G>C (p.Glu4314Asp) c.12939G>C (p.Glu4313Asp) c.12936G>C (p.Glu4312Asp) c.12888G>C (p.Glu4296Asp) c.12585G>C (p.Glu4195Asp) c.13119G>C (p.Glu4373Asp) c.13116G>C (p.Glu4372Asp) c.13098G>C (p.Glu4366Asp) c.13074G>C (p.Glu4358Asp) c.13071G>C (p.Glu4357Asp) c.13068G>C (p.Glu4356Asp) c.13020G>C (p.Glu4340Asp) c.13008G>C (p.Glu4336Asp) c.12870G>C (p.Glu4290Asp) c.12717G>C (p.Glu4239Asp) | |
X | g.53534609C>T | CA516420585 | HUWE1 | c.12522G>A (p.Glu4174=) c.12738G>A (p.Glu4246=) c.3205G>A n.51G>A c.12711G>A (p.Glu4237=) c.12987G>A (p.Glu4329=) c.12984G>A (p.Glu4328=) c.12942G>A (p.Glu4314=) c.12939G>A (p.Glu4313=) c.12936G>A (p.Glu4312=) c.12888G>A (p.Glu4296=) c.12585G>A (p.Glu4195=) c.13119G>A (p.Glu4373=) c.13116G>A (p.Glu4372=) c.13098G>A (p.Glu4366=) c.13074G>A (p.Glu4358=) c.13071G>A (p.Glu4357=) c.13068G>A (p.Glu4356=) c.13020G>A (p.Glu4340=) c.13008G>A (p.Glu4336=) c.12870G>A (p.Glu4290=) c.12717G>A (p.Glu4239=) | |
X | g.53534610T>A | CA413146533 | HUWE1 | c.12521A>T (p.Glu4174Val) c.12737A>T (p.Glu4246Val) c.3204A>T n.50A>T c.12710A>T (p.Glu4237Val) c.12986A>T (p.Glu4329Val) c.12983A>T (p.Glu4328Val) c.12941A>T (p.Glu4314Val) c.12938A>T (p.Glu4313Val) c.12935A>T (p.Glu4312Val) c.12887A>T (p.Glu4296Val) c.12584A>T (p.Glu4195Val) c.13118A>T (p.Glu4373Val) c.13115A>T (p.Glu4372Val) c.13097A>T (p.Glu4366Val) c.13073A>T (p.Glu4358Val) c.13070A>T (p.Glu4357Val) c.13067A>T (p.Glu4356Val) c.13019A>T (p.Glu4340Val) c.13007A>T (p.Glu4336Val) c.12869A>T (p.Glu4290Val) c.12716A>T (p.Glu4239Val) | |
X | g.53534610T>C | CA413146536 | HUWE1 | c.12521A>G (p.Glu4174Gly) c.12737A>G (p.Glu4246Gly) c.3204A>G n.50A>G c.12710A>G (p.Glu4237Gly) c.12986A>G (p.Glu4329Gly) c.12983A>G (p.Glu4328Gly) c.12941A>G (p.Glu4314Gly) c.12938A>G (p.Glu4313Gly) c.12935A>G (p.Glu4312Gly) c.12887A>G (p.Glu4296Gly) c.12584A>G (p.Glu4195Gly) c.13118A>G (p.Glu4373Gly) c.13115A>G (p.Glu4372Gly) c.13097A>G (p.Glu4366Gly) c.13073A>G (p.Glu4358Gly) c.13070A>G (p.Glu4357Gly) c.13067A>G (p.Glu4356Gly) c.13019A>G (p.Glu4340Gly) c.13007A>G (p.Glu4336Gly) c.12869A>G (p.Glu4290Gly) c.12716A>G (p.Glu4239Gly) | |
X | g.53534610T>G | CA413146538 | HUWE1 | c.12521A>C (p.Glu4174Ala) c.12737A>C (p.Glu4246Ala) c.3204A>C n.50A>C c.12710A>C (p.Glu4237Ala) c.12986A>C (p.Glu4329Ala) c.12983A>C (p.Glu4328Ala) c.12941A>C (p.Glu4314Ala) c.12938A>C (p.Glu4313Ala) c.12935A>C (p.Glu4312Ala) c.12887A>C (p.Glu4296Ala) c.12584A>C (p.Glu4195Ala) c.13118A>C (p.Glu4373Ala) c.13115A>C (p.Glu4372Ala) c.13097A>C (p.Glu4366Ala) c.13073A>C (p.Glu4358Ala) c.13070A>C (p.Glu4357Ala) c.13067A>C (p.Glu4356Ala) c.13019A>C (p.Glu4340Ala) c.13007A>C (p.Glu4336Ala) c.12869A>C (p.Glu4290Ala) c.12716A>C (p.Glu4239Ala) | |
X | g.53534611C>A | CA413146544 | HUWE1 | c.12520G>T (p.Glu4174Ter) c.12736G>T (p.Glu4246Ter) c.3203G>T n.49G>T c.12709G>T (p.Glu4237Ter) c.12985G>T (p.Glu4329Ter) c.12982G>T (p.Glu4328Ter) c.12940G>T (p.Glu4314Ter) c.12937G>T (p.Glu4313Ter) c.12934G>T (p.Glu4312Ter) c.12886G>T (p.Glu4296Ter) c.12583G>T (p.Glu4195Ter) c.13117G>T (p.Glu4373Ter) c.13114G>T (p.Glu4372Ter) c.13096G>T (p.Glu4366Ter) c.13072G>T (p.Glu4358Ter) c.13069G>T (p.Glu4357Ter) c.13066G>T (p.Glu4356Ter) c.13018G>T (p.Glu4340Ter) c.13006G>T (p.Glu4336Ter) c.12868G>T (p.Glu4290Ter) c.12715G>T (p.Glu4239Ter) | |
X | g.53534611C>G | CA413146546 | HUWE1 | c.12520G>C (p.Glu4174Gln) c.12736G>C (p.Glu4246Gln) c.3203G>C n.49G>C c.12709G>C (p.Glu4237Gln) c.12985G>C (p.Glu4329Gln) c.12982G>C (p.Glu4328Gln) c.12940G>C (p.Glu4314Gln) c.12937G>C (p.Glu4313Gln) c.12934G>C (p.Glu4312Gln) c.12886G>C (p.Glu4296Gln) c.12583G>C (p.Glu4195Gln) c.13117G>C (p.Glu4373Gln) c.13114G>C (p.Glu4372Gln) c.13096G>C (p.Glu4366Gln) c.13072G>C (p.Glu4358Gln) c.13069G>C (p.Glu4357Gln) c.13066G>C (p.Glu4356Gln) c.13018G>C (p.Glu4340Gln) c.13006G>C (p.Glu4336Gln) c.12868G>C (p.Glu4290Gln) c.12715G>C (p.Glu4239Gln) | |
X | g.53534611C>T | CA413146548 | HUWE1 | c.12520G>A (p.Glu4174Lys) c.12736G>A (p.Glu4246Lys) c.3203G>A n.49G>A c.12709G>A (p.Glu4237Lys) c.12985G>A (p.Glu4329Lys) c.12982G>A (p.Glu4328Lys) c.12940G>A (p.Glu4314Lys) c.12937G>A (p.Glu4313Lys) c.12934G>A (p.Glu4312Lys) c.12886G>A (p.Glu4296Lys) c.12583G>A (p.Glu4195Lys) c.13117G>A (p.Glu4373Lys) c.13114G>A (p.Glu4372Lys) c.13096G>A (p.Glu4366Lys) c.13072G>A (p.Glu4358Lys) c.13069G>A (p.Glu4357Lys) c.13066G>A (p.Glu4356Lys) c.13018G>A (p.Glu4340Lys) c.13006G>A (p.Glu4336Lys) c.12868G>A (p.Glu4290Lys) c.12715G>A (p.Glu4239Lys) | |
X | g.53534612C>A | CA413146552 | HUWE1 | c.12519G>T (p.Gln4173His) c.12735G>T (p.Gln4245His) c.3202G>T n.48G>T c.12708G>T (p.Gln4236His) c.12984G>T (p.Gln4328His) c.12981G>T (p.Gln4327His) c.12939G>T (p.Gln4313His) c.12936G>T (p.Gln4312His) c.12933G>T (p.Gln4311His) c.12885G>T (p.Gln4295His) c.12582G>T (p.Gln4194His) c.13116G>T (p.Gln4372His) c.13113G>T (p.Gln4371His) c.13095G>T (p.Gln4365His) c.13071G>T (p.Gln4357His) c.13068G>T (p.Gln4356His) c.13065G>T (p.Gln4355His) c.13017G>T (p.Gln4339His) c.13005G>T (p.Gln4335His) c.12867G>T (p.Gln4289His) c.12714G>T (p.Gln4238His) | |
X | g.53534612C>G | CA413146555 | HUWE1 | c.12519G>C (p.Gln4173His) c.12735G>C (p.Gln4245His) c.3202G>C n.48G>C c.12708G>C (p.Gln4236His) c.12984G>C (p.Gln4328His) c.12981G>C (p.Gln4327His) c.12939G>C (p.Gln4313His) c.12936G>C (p.Gln4312His) c.12933G>C (p.Gln4311His) c.12885G>C (p.Gln4295His) c.12582G>C (p.Gln4194His) c.13116G>C (p.Gln4372His) c.13113G>C (p.Gln4371His) c.13095G>C (p.Gln4365His) c.13071G>C (p.Gln4357His) c.13068G>C (p.Gln4356His) c.13065G>C (p.Gln4355His) c.13017G>C (p.Gln4339His) c.13005G>C (p.Gln4335His) c.12867G>C (p.Gln4289His) c.12714G>C (p.Gln4238His) | |
X | g.53534612C>T | CA516420598 | HUWE1 | c.12519G>A (p.Gln4173=) c.12735G>A (p.Gln4245=) c.3202G>A n.48G>A c.12708G>A (p.Gln4236=) c.12984G>A (p.Gln4328=) c.12981G>A (p.Gln4327=) c.12939G>A (p.Gln4313=) c.12936G>A (p.Gln4312=) c.12933G>A (p.Gln4311=) c.12885G>A (p.Gln4295=) c.12582G>A (p.Gln4194=) c.13116G>A (p.Gln4372=) c.13113G>A (p.Gln4371=) c.13095G>A (p.Gln4365=) c.13071G>A (p.Gln4357=) c.13068G>A (p.Gln4356=) c.13065G>A (p.Gln4355=) c.13017G>A (p.Gln4339=) c.13005G>A (p.Gln4335=) c.12867G>A (p.Gln4289=) c.12714G>A (p.Gln4238=) | COSMIC COSMIC |
X | g.53534613T>A | CA413146559 | HUWE1 | c.12518A>T (p.Gln4173Leu) c.12734A>T (p.Gln4245Leu) c.3201A>T n.47A>T c.12707A>T (p.Gln4236Leu) c.12983A>T (p.Gln4328Leu) c.12980A>T (p.Gln4327Leu) c.12938A>T (p.Gln4313Leu) c.12935A>T (p.Gln4312Leu) c.12932A>T (p.Gln4311Leu) c.12884A>T (p.Gln4295Leu) c.12581A>T (p.Gln4194Leu) c.13115A>T (p.Gln4372Leu) c.13112A>T (p.Gln4371Leu) c.13094A>T (p.Gln4365Leu) c.13070A>T (p.Gln4357Leu) c.13067A>T (p.Gln4356Leu) c.13064A>T (p.Gln4355Leu) c.13016A>T (p.Gln4339Leu) c.13004A>T (p.Gln4335Leu) c.12866A>T (p.Gln4289Leu) c.12713A>T (p.Gln4238Leu) | |
X | g.53534613T>C | CA413146561 | HUWE1 | c.12518A>G (p.Gln4173Arg) c.12734A>G (p.Gln4245Arg) c.3201A>G n.47A>G c.12707A>G (p.Gln4236Arg) c.12983A>G (p.Gln4328Arg) c.12980A>G (p.Gln4327Arg) c.12938A>G (p.Gln4313Arg) c.12935A>G (p.Gln4312Arg) c.12932A>G (p.Gln4311Arg) c.12884A>G (p.Gln4295Arg) c.12581A>G (p.Gln4194Arg) c.13115A>G (p.Gln4372Arg) c.13112A>G (p.Gln4371Arg) c.13094A>G (p.Gln4365Arg) c.13070A>G (p.Gln4357Arg) c.13067A>G (p.Gln4356Arg) c.13064A>G (p.Gln4355Arg) c.13016A>G (p.Gln4339Arg) c.13004A>G (p.Gln4335Arg) c.12866A>G (p.Gln4289Arg) c.12713A>G (p.Gln4238Arg) | |
X | g.53534613T>G | CA413146564 | HUWE1 | c.12518A>C (p.Gln4173Pro) c.12734A>C (p.Gln4245Pro) c.3201A>C n.47A>C c.12707A>C (p.Gln4236Pro) c.12983A>C (p.Gln4328Pro) c.12980A>C (p.Gln4327Pro) c.12938A>C (p.Gln4313Pro) c.12935A>C (p.Gln4312Pro) c.12932A>C (p.Gln4311Pro) c.12884A>C (p.Gln4295Pro) c.12581A>C (p.Gln4194Pro) c.13115A>C (p.Gln4372Pro) c.13112A>C (p.Gln4371Pro) c.13094A>C (p.Gln4365Pro) c.13070A>C (p.Gln4357Pro) c.13067A>C (p.Gln4356Pro) c.13064A>C (p.Gln4355Pro) c.13016A>C (p.Gln4339Pro) c.13004A>C (p.Gln4335Pro) c.12866A>C (p.Gln4289Pro) c.12713A>C (p.Gln4238Pro) | |
X | g.53534614G>A | CA413146570 | HUWE1 | c.12517C>T (p.Gln4173Ter) c.12733C>T (p.Gln4245Ter) c.3200C>T n.46C>T c.12706C>T (p.Gln4236Ter) c.12982C>T (p.Gln4328Ter) c.12979C>T (p.Gln4327Ter) c.12937C>T (p.Gln4313Ter) c.12934C>T (p.Gln4312Ter) c.12931C>T (p.Gln4311Ter) c.12883C>T (p.Gln4295Ter) c.12580C>T (p.Gln4194Ter) c.13114C>T (p.Gln4372Ter) c.13111C>T (p.Gln4371Ter) c.13093C>T (p.Gln4365Ter) c.13069C>T (p.Gln4357Ter) c.13066C>T (p.Gln4356Ter) c.13063C>T (p.Gln4355Ter) c.13015C>T (p.Gln4339Ter) c.13003C>T (p.Gln4335Ter) c.12865C>T (p.Gln4289Ter) c.12712C>T (p.Gln4238Ter) | |
X | g.53534614G>C | CA413146573 | HUWE1 | c.12517C>G (p.Gln4173Glu) c.12733C>G (p.Gln4245Glu) c.3200C>G n.46C>G c.12706C>G (p.Gln4236Glu) c.12982C>G (p.Gln4328Glu) c.12979C>G (p.Gln4327Glu) c.12937C>G (p.Gln4313Glu) c.12934C>G (p.Gln4312Glu) c.12931C>G (p.Gln4311Glu) c.12883C>G (p.Gln4295Glu) c.12580C>G (p.Gln4194Glu) c.13114C>G (p.Gln4372Glu) c.13111C>G (p.Gln4371Glu) c.13093C>G (p.Gln4365Glu) c.13069C>G (p.Gln4357Glu) c.13066C>G (p.Gln4356Glu) c.13063C>G (p.Gln4355Glu) c.13015C>G (p.Gln4339Glu) c.13003C>G (p.Gln4335Glu) c.12865C>G (p.Gln4289Glu) c.12712C>G (p.Gln4238Glu) | |
X | g.53534614G>T | CA413146576 | HUWE1 | c.12517C>A (p.Gln4173Lys) c.12733C>A (p.Gln4245Lys) c.3200C>A n.46C>A c.12706C>A (p.Gln4236Lys) c.12982C>A (p.Gln4328Lys) c.12979C>A (p.Gln4327Lys) c.12937C>A (p.Gln4313Lys) c.12934C>A (p.Gln4312Lys) c.12931C>A (p.Gln4311Lys) c.12883C>A (p.Gln4295Lys) c.12580C>A (p.Gln4194Lys) c.13114C>A (p.Gln4372Lys) c.13111C>A (p.Gln4371Lys) c.13093C>A (p.Gln4365Lys) c.13069C>A (p.Gln4357Lys) c.13066C>A (p.Gln4356Lys) c.13063C>A (p.Gln4355Lys) c.13015C>A (p.Gln4339Lys) c.13003C>A (p.Gln4335Lys) c.12865C>A (p.Gln4289Lys) c.12712C>A (p.Gln4238Lys) | |
X | g.53534615C>A | CA413146580 | HUWE1 | c.12516G>T (p.Glu4172Asp) c.12732G>T (p.Glu4244Asp) c.3199G>T n.45G>T c.12705G>T (p.Glu4235Asp) c.12981G>T (p.Glu4327Asp) c.12978G>T (p.Glu4326Asp) c.12936G>T (p.Glu4312Asp) c.12933G>T (p.Glu4311Asp) c.12930G>T (p.Glu4310Asp) c.12882G>T (p.Glu4294Asp) c.12579G>T (p.Glu4193Asp) c.13113G>T (p.Glu4371Asp) c.13110G>T (p.Glu4370Asp) c.13092G>T (p.Glu4364Asp) c.13068G>T (p.Glu4356Asp) c.13065G>T (p.Glu4355Asp) c.13062G>T (p.Glu4354Asp) c.13014G>T (p.Glu4338Asp) c.13002G>T (p.Glu4334Asp) c.12864G>T (p.Glu4288Asp) c.12711G>T (p.Glu4237Asp) | |
X | g.53534615C= | CA2429869115 | HUWE1 | c.12516G= (p.Glu4172=) c.12732G= (p.Glu4244=) c.3199G= n.45G= c.12705G= (p.Glu4235=) c.12981G= (p.Glu4327=) c.12978G= (p.Glu4326=) c.12936G= (p.Glu4312=) c.12933G= (p.Glu4311=) c.12930G= (p.Glu4310=) c.12882G= (p.Glu4294=) c.12579G= (p.Glu4193=) c.13113G= (p.Glu4371=) c.13110G= (p.Glu4370=) c.13092G= (p.Glu4364=) c.13068G= (p.Glu4356=) c.13065G= (p.Glu4355=) c.13062G= (p.Glu4354=) c.13014G= (p.Glu4338=) c.13002G= (p.Glu4334=) c.12864G= (p.Glu4288=) c.12711G= (p.Glu4237=) | |
X | g.53534615C>G | CA413146587 | HUWE1 | c.12516G>C (p.Glu4172Asp) c.12732G>C (p.Glu4244Asp) c.3199G>C n.45G>C c.12705G>C (p.Glu4235Asp) c.12981G>C (p.Glu4327Asp) c.12978G>C (p.Glu4326Asp) c.12936G>C (p.Glu4312Asp) c.12933G>C (p.Glu4311Asp) c.12930G>C (p.Glu4310Asp) c.12882G>C (p.Glu4294Asp) c.12579G>C (p.Glu4193Asp) c.13113G>C (p.Glu4371Asp) c.13110G>C (p.Glu4370Asp) c.13092G>C (p.Glu4364Asp) c.13068G>C (p.Glu4356Asp) c.13065G>C (p.Glu4355Asp) c.13062G>C (p.Glu4354Asp) c.13014G>C (p.Glu4338Asp) c.13002G>C (p.Glu4334Asp) c.12864G>C (p.Glu4288Asp) c.12711G>C (p.Glu4237Asp) | ClinVar dbSNP |
X | g.53534615C>T | CA516420611 | HUWE1 | c.12516G>A (p.Glu4172=) c.12732G>A (p.Glu4244=) c.3199G>A n.45G>A c.12705G>A (p.Glu4235=) c.12981G>A (p.Glu4327=) c.12978G>A (p.Glu4326=) c.12936G>A (p.Glu4312=) c.12933G>A (p.Glu4311=) c.12930G>A (p.Glu4310=) c.12882G>A (p.Glu4294=) c.12579G>A (p.Glu4193=) c.13113G>A (p.Glu4371=) c.13110G>A (p.Glu4370=) c.13092G>A (p.Glu4364=) c.13068G>A (p.Glu4356=) c.13065G>A (p.Glu4355=) c.13062G>A (p.Glu4354=) c.13014G>A (p.Glu4338=) c.13002G>A (p.Glu4334=) c.12864G>A (p.Glu4288=) c.12711G>A (p.Glu4237=) | dbSNP |
X | g.53534616T>A | CA413146590 | HUWE1 | c.12515A>T (p.Glu4172Val) c.12731A>T (p.Glu4244Val) c.3198A>T n.44A>T c.12704A>T (p.Glu4235Val) c.12980A>T (p.Glu4327Val) c.12977A>T (p.Glu4326Val) c.12935A>T (p.Glu4312Val) c.12932A>T (p.Glu4311Val) c.12929A>T (p.Glu4310Val) c.12881A>T (p.Glu4294Val) c.12578A>T (p.Glu4193Val) c.13112A>T (p.Glu4371Val) c.13109A>T (p.Glu4370Val) c.13091A>T (p.Glu4364Val) c.13067A>T (p.Glu4356Val) c.13064A>T (p.Glu4355Val) c.13061A>T (p.Glu4354Val) c.13013A>T (p.Glu4338Val) c.13001A>T (p.Glu4334Val) c.12863A>T (p.Glu4288Val) c.12710A>T (p.Glu4237Val) | |
X | g.53534616T>C | CA413146592 | HUWE1 | c.12515A>G (p.Glu4172Gly) c.12731A>G (p.Glu4244Gly) c.3198A>G n.44A>G c.12704A>G (p.Glu4235Gly) c.12980A>G (p.Glu4327Gly) c.12977A>G (p.Glu4326Gly) c.12935A>G (p.Glu4312Gly) c.12932A>G (p.Glu4311Gly) c.12929A>G (p.Glu4310Gly) c.12881A>G (p.Glu4294Gly) c.12578A>G (p.Glu4193Gly) c.13112A>G (p.Glu4371Gly) c.13109A>G (p.Glu4370Gly) c.13091A>G (p.Glu4364Gly) c.13067A>G (p.Glu4356Gly) c.13064A>G (p.Glu4355Gly) c.13061A>G (p.Glu4354Gly) c.13013A>G (p.Glu4338Gly) c.13001A>G (p.Glu4334Gly) c.12863A>G (p.Glu4288Gly) c.12710A>G (p.Glu4237Gly) | |
X | g.53534616T>G | CA413146593 | HUWE1 | c.12515A>C (p.Glu4172Ala) c.12731A>C (p.Glu4244Ala) c.3198A>C n.44A>C c.12704A>C (p.Glu4235Ala) c.12980A>C (p.Glu4327Ala) c.12977A>C (p.Glu4326Ala) c.12935A>C (p.Glu4312Ala) c.12932A>C (p.Glu4311Ala) c.12929A>C (p.Glu4310Ala) c.12881A>C (p.Glu4294Ala) c.12578A>C (p.Glu4193Ala) c.13112A>C (p.Glu4371Ala) c.13109A>C (p.Glu4370Ala) c.13091A>C (p.Glu4364Ala) c.13067A>C (p.Glu4356Ala) c.13064A>C (p.Glu4355Ala) c.13061A>C (p.Glu4354Ala) c.13013A>C (p.Glu4338Ala) c.13001A>C (p.Glu4334Ala) c.12863A>C (p.Glu4288Ala) c.12710A>C (p.Glu4237Ala) | |
X | g.53534617C>A | CA413146594 | HUWE1 | c.12514G>T (p.Glu4172Ter) c.12730G>T (p.Glu4244Ter) c.3197G>T n.43G>T c.12703G>T (p.Glu4235Ter) c.12979G>T (p.Glu4327Ter) c.12976G>T (p.Glu4326Ter) c.12934G>T (p.Glu4312Ter) c.12931G>T (p.Glu4311Ter) c.12928G>T (p.Glu4310Ter) c.12880G>T (p.Glu4294Ter) c.12577G>T (p.Glu4193Ter) c.13111G>T (p.Glu4371Ter) c.13108G>T (p.Glu4370Ter) c.13090G>T (p.Glu4364Ter) c.13066G>T (p.Glu4356Ter) c.13063G>T (p.Glu4355Ter) c.13060G>T (p.Glu4354Ter) c.13012G>T (p.Glu4338Ter) c.13000G>T (p.Glu4334Ter) c.12862G>T (p.Glu4288Ter) c.12709G>T (p.Glu4237Ter) | |
X | g.53534617C>G | CA413146595 | HUWE1 | c.12514G>C (p.Glu4172Gln) c.12730G>C (p.Glu4244Gln) c.3197G>C n.43G>C c.12703G>C (p.Glu4235Gln) c.12979G>C (p.Glu4327Gln) c.12976G>C (p.Glu4326Gln) c.12934G>C (p.Glu4312Gln) c.12931G>C (p.Glu4311Gln) c.12928G>C (p.Glu4310Gln) c.12880G>C (p.Glu4294Gln) c.12577G>C (p.Glu4193Gln) c.13111G>C (p.Glu4371Gln) c.13108G>C (p.Glu4370Gln) c.13090G>C (p.Glu4364Gln) c.13066G>C (p.Glu4356Gln) c.13063G>C (p.Glu4355Gln) c.13060G>C (p.Glu4354Gln) c.13012G>C (p.Glu4338Gln) c.13000G>C (p.Glu4334Gln) c.12862G>C (p.Glu4288Gln) c.12709G>C (p.Glu4237Gln) | |
X | g.53534617C>T | CA413146596 | HUWE1 | c.12514G>A (p.Glu4172Lys) c.12730G>A (p.Glu4244Lys) c.3197G>A n.43G>A c.12703G>A (p.Glu4235Lys) c.12979G>A (p.Glu4327Lys) c.12976G>A (p.Glu4326Lys) c.12934G>A (p.Glu4312Lys) c.12931G>A (p.Glu4311Lys) c.12928G>A (p.Glu4310Lys) c.12880G>A (p.Glu4294Lys) c.12577G>A (p.Glu4193Lys) c.13111G>A (p.Glu4371Lys) c.13108G>A (p.Glu4370Lys) c.13090G>A (p.Glu4364Lys) c.13066G>A (p.Glu4356Lys) c.13063G>A (p.Glu4355Lys) c.13060G>A (p.Glu4354Lys) c.13012G>A (p.Glu4338Lys) c.13000G>A (p.Glu4334Lys) c.12862G>A (p.Glu4288Lys) c.12709G>A (p.Glu4237Lys) | |
X | g.53534618A>C | CA516420622 | HUWE1 | c.12513T>G (p.Thr4171=) c.12729T>G (p.Thr4243=) c.3196T>G n.42T>G c.12702T>G (p.Thr4234=) c.12978T>G (p.Thr4326=) c.12975T>G (p.Thr4325=) c.12933T>G (p.Thr4311=) c.12930T>G (p.Thr4310=) c.12927T>G (p.Thr4309=) c.12879T>G (p.Thr4293=) c.12576T>G (p.Thr4192=) c.13110T>G (p.Thr4370=) c.13107T>G (p.Thr4369=) c.13089T>G (p.Thr4363=) c.13065T>G (p.Thr4355=) c.13062T>G (p.Thr4354=) c.13059T>G (p.Thr4353=) c.13011T>G (p.Thr4337=) c.12999T>G (p.Thr4333=) c.12861T>G (p.Thr4287=) c.12708T>G (p.Thr4236=) | |
X | g.53534618A>G | CA516420628 | HUWE1 | c.12513T>C (p.Thr4171=) c.12729T>C (p.Thr4243=) c.3196T>C n.42T>C c.12702T>C (p.Thr4234=) c.12978T>C (p.Thr4326=) c.12975T>C (p.Thr4325=) c.12933T>C (p.Thr4311=) c.12930T>C (p.Thr4310=) c.12927T>C (p.Thr4309=) c.12879T>C (p.Thr4293=) c.12576T>C (p.Thr4192=) c.13110T>C (p.Thr4370=) c.13107T>C (p.Thr4369=) c.13089T>C (p.Thr4363=) c.13065T>C (p.Thr4355=) c.13062T>C (p.Thr4354=) c.13059T>C (p.Thr4353=) c.13011T>C (p.Thr4337=) c.12999T>C (p.Thr4333=) c.12861T>C (p.Thr4287=) c.12708T>C (p.Thr4236=) | |
X | g.53534618A>T | CA516420630 | HUWE1 | c.12513T>A (p.Thr4171=) c.12729T>A (p.Thr4243=) c.3196T>A n.42T>A c.12702T>A (p.Thr4234=) c.12978T>A (p.Thr4326=) c.12975T>A (p.Thr4325=) c.12933T>A (p.Thr4311=) c.12930T>A (p.Thr4310=) c.12927T>A (p.Thr4309=) c.12879T>A (p.Thr4293=) c.12576T>A (p.Thr4192=) c.13110T>A (p.Thr4370=) c.13107T>A (p.Thr4369=) c.13089T>A (p.Thr4363=) c.13065T>A (p.Thr4355=) c.13062T>A (p.Thr4354=) c.13059T>A (p.Thr4353=) c.13011T>A (p.Thr4337=) c.12999T>A (p.Thr4333=) c.12861T>A (p.Thr4287=) c.12708T>A (p.Thr4236=) | |
X | g.53534619G>A | CA413146598 | HUWE1 | c.12512C>T (p.Thr4171Ile) c.12728C>T (p.Thr4243Ile) c.3195C>T n.41C>T c.12701C>T (p.Thr4234Ile) c.12977C>T (p.Thr4326Ile) c.12974C>T (p.Thr4325Ile) c.12932C>T (p.Thr4311Ile) c.12929C>T (p.Thr4310Ile) c.12926C>T (p.Thr4309Ile) c.12878C>T (p.Thr4293Ile) c.12575C>T (p.Thr4192Ile) c.13109C>T (p.Thr4370Ile) c.13106C>T (p.Thr4369Ile) c.13088C>T (p.Thr4363Ile) c.13064C>T (p.Thr4355Ile) c.13061C>T (p.Thr4354Ile) c.13058C>T (p.Thr4353Ile) c.13010C>T (p.Thr4337Ile) c.12998C>T (p.Thr4333Ile) c.12860C>T (p.Thr4287Ile) c.12707C>T (p.Thr4236Ile) | |
X | g.53534619G>C | CA413146600 | HUWE1 | c.12512C>G (p.Thr4171Ser) c.12728C>G (p.Thr4243Ser) c.3195C>G n.41C>G c.12701C>G (p.Thr4234Ser) c.12977C>G (p.Thr4326Ser) c.12974C>G (p.Thr4325Ser) c.12932C>G (p.Thr4311Ser) c.12929C>G (p.Thr4310Ser) c.12926C>G (p.Thr4309Ser) c.12878C>G (p.Thr4293Ser) c.12575C>G (p.Thr4192Ser) c.13109C>G (p.Thr4370Ser) c.13106C>G (p.Thr4369Ser) c.13088C>G (p.Thr4363Ser) c.13064C>G (p.Thr4355Ser) c.13061C>G (p.Thr4354Ser) c.13058C>G (p.Thr4353Ser) c.13010C>G (p.Thr4337Ser) c.12998C>G (p.Thr4333Ser) c.12860C>G (p.Thr4287Ser) c.12707C>G (p.Thr4236Ser) | |
X | g.53534619G>T | CA413146602 | HUWE1 | c.12512C>A (p.Thr4171Asn) c.12728C>A (p.Thr4243Asn) c.3195C>A n.41C>A c.12701C>A (p.Thr4234Asn) c.12977C>A (p.Thr4326Asn) c.12974C>A (p.Thr4325Asn) c.12932C>A (p.Thr4311Asn) c.12929C>A (p.Thr4310Asn) c.12926C>A (p.Thr4309Asn) c.12878C>A (p.Thr4293Asn) c.12575C>A (p.Thr4192Asn) c.13109C>A (p.Thr4370Asn) c.13106C>A (p.Thr4369Asn) c.13088C>A (p.Thr4363Asn) c.13064C>A (p.Thr4355Asn) c.13061C>A (p.Thr4354Asn) c.13058C>A (p.Thr4353Asn) c.13010C>A (p.Thr4337Asn) c.12998C>A (p.Thr4333Asn) c.12860C>A (p.Thr4287Asn) c.12707C>A (p.Thr4236Asn) | |
X | g.53534620T>A | CA413146607 | HUWE1 | c.12511A>T (p.Thr4171Ser) c.12727A>T (p.Thr4243Ser) c.3194A>T n.40A>T c.12700A>T (p.Thr4234Ser) c.12976A>T (p.Thr4326Ser) c.12973A>T (p.Thr4325Ser) c.12931A>T (p.Thr4311Ser) c.12928A>T (p.Thr4310Ser) c.12925A>T (p.Thr4309Ser) c.12877A>T (p.Thr4293Ser) c.12574A>T (p.Thr4192Ser) c.13108A>T (p.Thr4370Ser) c.13105A>T (p.Thr4369Ser) c.13087A>T (p.Thr4363Ser) c.13063A>T (p.Thr4355Ser) c.13060A>T (p.Thr4354Ser) c.13057A>T (p.Thr4353Ser) c.13009A>T (p.Thr4337Ser) c.12997A>T (p.Thr4333Ser) c.12859A>T (p.Thr4287Ser) c.12706A>T (p.Thr4236Ser) | |
X | g.53534620T>C | CA413146609 | HUWE1 | c.12511A>G (p.Thr4171Ala) c.12727A>G (p.Thr4243Ala) c.3194A>G n.40A>G c.12700A>G (p.Thr4234Ala) c.12976A>G (p.Thr4326Ala) c.12973A>G (p.Thr4325Ala) c.12931A>G (p.Thr4311Ala) c.12928A>G (p.Thr4310Ala) c.12925A>G (p.Thr4309Ala) c.12877A>G (p.Thr4293Ala) c.12574A>G (p.Thr4192Ala) c.13108A>G (p.Thr4370Ala) c.13105A>G (p.Thr4369Ala) c.13087A>G (p.Thr4363Ala) c.13063A>G (p.Thr4355Ala) c.13060A>G (p.Thr4354Ala) c.13057A>G (p.Thr4353Ala) c.13009A>G (p.Thr4337Ala) c.12997A>G (p.Thr4333Ala) c.12859A>G (p.Thr4287Ala) c.12706A>G (p.Thr4236Ala) | |
X | g.53534620T>G | CA413146612 | HUWE1 | c.12511A>C (p.Thr4171Pro) c.12727A>C (p.Thr4243Pro) c.3194A>C n.40A>C c.12700A>C (p.Thr4234Pro) c.12976A>C (p.Thr4326Pro) c.12973A>C (p.Thr4325Pro) c.12931A>C (p.Thr4311Pro) c.12928A>C (p.Thr4310Pro) c.12925A>C (p.Thr4309Pro) c.12877A>C (p.Thr4293Pro) c.12574A>C (p.Thr4192Pro) c.13108A>C (p.Thr4370Pro) c.13105A>C (p.Thr4369Pro) c.13087A>C (p.Thr4363Pro) c.13063A>C (p.Thr4355Pro) c.13060A>C (p.Thr4354Pro) c.13057A>C (p.Thr4353Pro) c.13009A>C (p.Thr4337Pro) c.12997A>C (p.Thr4333Pro) c.12859A>C (p.Thr4287Pro) c.12706A>C (p.Thr4236Pro) | |
X | g.53534621G>A | CA516420638 | HUWE1 | c.12510C>T (p.Phe4170=) c.12726C>T (p.Phe4242=) c.3193C>T n.39C>T c.12699C>T (p.Phe4233=) c.12975C>T (p.Phe4325=) c.12972C>T (p.Phe4324=) c.12930C>T (p.Phe4310=) c.12927C>T (p.Phe4309=) c.12924C>T (p.Phe4308=) c.12876C>T (p.Phe4292=) c.12573C>T (p.Phe4191=) c.13107C>T (p.Phe4369=) c.13104C>T (p.Phe4368=) c.13086C>T (p.Phe4362=) c.13062C>T (p.Phe4354=) c.13059C>T (p.Phe4353=) c.13056C>T (p.Phe4352=) c.13008C>T (p.Phe4336=) c.12996C>T (p.Phe4332=) c.12858C>T (p.Phe4286=) c.12705C>T (p.Phe4235=) | |
X | g.53534621G>C | CA413146615 | HUWE1 | c.12510C>G (p.Phe4170Leu) c.12726C>G (p.Phe4242Leu) c.3193C>G n.39C>G c.12699C>G (p.Phe4233Leu) c.12975C>G (p.Phe4325Leu) c.12972C>G (p.Phe4324Leu) c.12930C>G (p.Phe4310Leu) c.12927C>G (p.Phe4309Leu) c.12924C>G (p.Phe4308Leu) c.12876C>G (p.Phe4292Leu) c.12573C>G (p.Phe4191Leu) c.13107C>G (p.Phe4369Leu) c.13104C>G (p.Phe4368Leu) c.13086C>G (p.Phe4362Leu) c.13062C>G (p.Phe4354Leu) c.13059C>G (p.Phe4353Leu) c.13056C>G (p.Phe4352Leu) c.13008C>G (p.Phe4336Leu) c.12996C>G (p.Phe4332Leu) c.12858C>G (p.Phe4286Leu) c.12705C>G (p.Phe4235Leu) | |
X | g.53534621G>T | CA413146617 | HUWE1 | c.12510C>A (p.Phe4170Leu) c.12726C>A (p.Phe4242Leu) c.3193C>A n.39C>A c.12699C>A (p.Phe4233Leu) c.12975C>A (p.Phe4325Leu) c.12972C>A (p.Phe4324Leu) c.12930C>A (p.Phe4310Leu) c.12927C>A (p.Phe4309Leu) c.12924C>A (p.Phe4308Leu) c.12876C>A (p.Phe4292Leu) c.12573C>A (p.Phe4191Leu) c.13107C>A (p.Phe4369Leu) c.13104C>A (p.Phe4368Leu) c.13086C>A (p.Phe4362Leu) c.13062C>A (p.Phe4354Leu) c.13059C>A (p.Phe4353Leu) c.13056C>A (p.Phe4352Leu) c.13008C>A (p.Phe4336Leu) c.12996C>A (p.Phe4332Leu) c.12858C>A (p.Phe4286Leu) c.12705C>A (p.Phe4235Leu) | |
X | g.53534622A>C | CA413146625 | HUWE1 | c.12509T>G (p.Phe4170Cys) c.12725T>G (p.Phe4242Cys) c.3192T>G n.38T>G c.12698T>G (p.Phe4233Cys) c.12974T>G (p.Phe4325Cys) c.12971T>G (p.Phe4324Cys) c.12929T>G (p.Phe4310Cys) c.12926T>G (p.Phe4309Cys) c.12923T>G (p.Phe4308Cys) c.12875T>G (p.Phe4292Cys) c.12572T>G (p.Phe4191Cys) c.13106T>G (p.Phe4369Cys) c.13103T>G (p.Phe4368Cys) c.13085T>G (p.Phe4362Cys) c.13061T>G (p.Phe4354Cys) c.13058T>G (p.Phe4353Cys) c.13055T>G (p.Phe4352Cys) c.13007T>G (p.Phe4336Cys) c.12995T>G (p.Phe4332Cys) c.12857T>G (p.Phe4286Cys) c.12704T>G (p.Phe4235Cys) | |
X | g.53534622A>G | CA413146624 | HUWE1 | c.12509T>C (p.Phe4170Ser) c.12725T>C (p.Phe4242Ser) c.3192T>C n.38T>C c.12698T>C (p.Phe4233Ser) c.12974T>C (p.Phe4325Ser) c.12971T>C (p.Phe4324Ser) c.12929T>C (p.Phe4310Ser) c.12926T>C (p.Phe4309Ser) c.12923T>C (p.Phe4308Ser) c.12875T>C (p.Phe4292Ser) c.12572T>C (p.Phe4191Ser) c.13106T>C (p.Phe4369Ser) c.13103T>C (p.Phe4368Ser) c.13085T>C (p.Phe4362Ser) c.13061T>C (p.Phe4354Ser) c.13058T>C (p.Phe4353Ser) c.13055T>C (p.Phe4352Ser) c.13007T>C (p.Phe4336Ser) c.12995T>C (p.Phe4332Ser) c.12857T>C (p.Phe4286Ser) c.12704T>C (p.Phe4235Ser) | |
X | g.53534622A>T | CA413146620 | HUWE1 | c.12509T>A (p.Phe4170Tyr) c.12725T>A (p.Phe4242Tyr) c.3192T>A n.38T>A c.12698T>A (p.Phe4233Tyr) c.12974T>A (p.Phe4325Tyr) c.12971T>A (p.Phe4324Tyr) c.12929T>A (p.Phe4310Tyr) c.12926T>A (p.Phe4309Tyr) c.12923T>A (p.Phe4308Tyr) c.12875T>A (p.Phe4292Tyr) c.12572T>A (p.Phe4191Tyr) c.13106T>A (p.Phe4369Tyr) c.13103T>A (p.Phe4368Tyr) c.13085T>A (p.Phe4362Tyr) c.13061T>A (p.Phe4354Tyr) c.13058T>A (p.Phe4353Tyr) c.13055T>A (p.Phe4352Tyr) c.13007T>A (p.Phe4336Tyr) c.12995T>A (p.Phe4332Tyr) c.12857T>A (p.Phe4286Tyr) c.12704T>A (p.Phe4235Tyr) | |
X | g.53534623A>C | CA413146629 | HUWE1 | c.12508T>G (p.Phe4170Val) c.12724T>G (p.Phe4242Val) c.3191T>G n.37T>G c.12697T>G (p.Phe4233Val) c.12973T>G (p.Phe4325Val) c.12970T>G (p.Phe4324Val) c.12928T>G (p.Phe4310Val) c.12925T>G (p.Phe4309Val) c.12922T>G (p.Phe4308Val) c.12874T>G (p.Phe4292Val) c.12571T>G (p.Phe4191Val) c.13105T>G (p.Phe4369Val) c.13102T>G (p.Phe4368Val) c.13084T>G (p.Phe4362Val) c.13060T>G (p.Phe4354Val) c.13057T>G (p.Phe4353Val) c.13054T>G (p.Phe4352Val) c.13006T>G (p.Phe4336Val) c.12994T>G (p.Phe4332Val) c.12856T>G (p.Phe4286Val) c.12703T>G (p.Phe4235Val) | |
X | g.53534623A>G | CA413146631 | HUWE1 | c.12508T>C (p.Phe4170Leu) c.12724T>C (p.Phe4242Leu) c.3191T>C n.37T>C c.12697T>C (p.Phe4233Leu) c.12973T>C (p.Phe4325Leu) c.12970T>C (p.Phe4324Leu) c.12928T>C (p.Phe4310Leu) c.12925T>C (p.Phe4309Leu) c.12922T>C (p.Phe4308Leu) c.12874T>C (p.Phe4292Leu) c.12571T>C (p.Phe4191Leu) c.13105T>C (p.Phe4369Leu) c.13102T>C (p.Phe4368Leu) c.13084T>C (p.Phe4362Leu) c.13060T>C (p.Phe4354Leu) c.13057T>C (p.Phe4353Leu) c.13054T>C (p.Phe4352Leu) c.13006T>C (p.Phe4336Leu) c.12994T>C (p.Phe4332Leu) c.12856T>C (p.Phe4286Leu) c.12703T>C (p.Phe4235Leu) | |
X | g.53534623A>T | CA413146634 | HUWE1 | c.12508T>A (p.Phe4170Ile) c.12724T>A (p.Phe4242Ile) c.3191T>A n.37T>A c.12697T>A (p.Phe4233Ile) c.12973T>A (p.Phe4325Ile) c.12970T>A (p.Phe4324Ile) c.12928T>A (p.Phe4310Ile) c.12925T>A (p.Phe4309Ile) c.12922T>A (p.Phe4308Ile) c.12874T>A (p.Phe4292Ile) c.12571T>A (p.Phe4191Ile) c.13105T>A (p.Phe4369Ile) c.13102T>A (p.Phe4368Ile) c.13084T>A (p.Phe4362Ile) c.13060T>A (p.Phe4354Ile) c.13057T>A (p.Phe4353Ile) c.13054T>A (p.Phe4352Ile) c.13006T>A (p.Phe4336Ile) c.12994T>A (p.Phe4332Ile) c.12856T>A (p.Phe4286Ile) c.12703T>A (p.Phe4235Ile) | |
X | g.53534624G>A | CA516420650 | HUWE1 | c.12507C>T (p.Ile4169=) c.12723C>T (p.Ile4241=) c.3190C>T n.36C>T c.12696C>T (p.Ile4232=) c.12972C>T (p.Ile4324=) c.12969C>T (p.Ile4323=) c.12927C>T (p.Ile4309=) c.12924C>T (p.Ile4308=) c.12921C>T (p.Ile4307=) c.12873C>T (p.Ile4291=) c.12570C>T (p.Ile4190=) c.13104C>T (p.Ile4368=) c.13101C>T (p.Ile4367=) c.13083C>T (p.Ile4361=) c.13059C>T (p.Ile4353=) c.13056C>T (p.Ile4352=) c.13053C>T (p.Ile4351=) c.13005C>T (p.Ile4335=) c.12993C>T (p.Ile4331=) c.12855C>T (p.Ile4285=) c.12702C>T (p.Ile4234=) | |
X | g.53534624G>C | CA413146637 | HUWE1 | c.12507C>G (p.Ile4169Met) c.12723C>G (p.Ile4241Met) c.3190C>G n.36C>G c.12696C>G (p.Ile4232Met) c.12972C>G (p.Ile4324Met) c.12969C>G (p.Ile4323Met) c.12927C>G (p.Ile4309Met) c.12924C>G (p.Ile4308Met) c.12921C>G (p.Ile4307Met) c.12873C>G (p.Ile4291Met) c.12570C>G (p.Ile4190Met) c.13104C>G (p.Ile4368Met) c.13101C>G (p.Ile4367Met) c.13083C>G (p.Ile4361Met) c.13059C>G (p.Ile4353Met) c.13056C>G (p.Ile4352Met) c.13053C>G (p.Ile4351Met) c.13005C>G (p.Ile4335Met) c.12993C>G (p.Ile4331Met) c.12855C>G (p.Ile4285Met) c.12702C>G (p.Ile4234Met) | |
X | g.53534624G>T | CA516420647 | HUWE1 | c.12507C>A (p.Ile4169=) c.12723C>A (p.Ile4241=) c.3190C>A n.36C>A c.12696C>A (p.Ile4232=) c.12972C>A (p.Ile4324=) c.12969C>A (p.Ile4323=) c.12927C>A (p.Ile4309=) c.12924C>A (p.Ile4308=) c.12921C>A (p.Ile4307=) c.12873C>A (p.Ile4291=) c.12570C>A (p.Ile4190=) c.13104C>A (p.Ile4368=) c.13101C>A (p.Ile4367=) c.13083C>A (p.Ile4361=) c.13059C>A (p.Ile4353=) c.13056C>A (p.Ile4352=) c.13053C>A (p.Ile4351=) c.13005C>A (p.Ile4335=) c.12993C>A (p.Ile4331=) c.12855C>A (p.Ile4285=) c.12702C>A (p.Ile4234=) | |
X | g.53534625A>C | CA413146640 | HUWE1 | c.12506T>G (p.Ile4169Ser) c.12722T>G (p.Ile4241Ser) c.3189T>G n.35T>G c.12695T>G (p.Ile4232Ser) c.12971T>G (p.Ile4324Ser) c.12968T>G (p.Ile4323Ser) c.12926T>G (p.Ile4309Ser) c.12923T>G (p.Ile4308Ser) c.12920T>G (p.Ile4307Ser) c.12872T>G (p.Ile4291Ser) c.12569T>G (p.Ile4190Ser) c.13103T>G (p.Ile4368Ser) c.13100T>G (p.Ile4367Ser) c.13082T>G (p.Ile4361Ser) c.13058T>G (p.Ile4353Ser) c.13055T>G (p.Ile4352Ser) c.13052T>G (p.Ile4351Ser) c.13004T>G (p.Ile4335Ser) c.12992T>G (p.Ile4331Ser) c.12854T>G (p.Ile4285Ser) c.12701T>G (p.Ile4234Ser) | |
X | g.53534625A>G | CA413146643 | HUWE1 | c.12506T>C (p.Ile4169Thr) c.12722T>C (p.Ile4241Thr) c.3189T>C n.35T>C c.12695T>C (p.Ile4232Thr) c.12971T>C (p.Ile4324Thr) c.12968T>C (p.Ile4323Thr) c.12926T>C (p.Ile4309Thr) c.12923T>C (p.Ile4308Thr) c.12920T>C (p.Ile4307Thr) c.12872T>C (p.Ile4291Thr) c.12569T>C (p.Ile4190Thr) c.13103T>C (p.Ile4368Thr) c.13100T>C (p.Ile4367Thr) c.13082T>C (p.Ile4361Thr) c.13058T>C (p.Ile4353Thr) c.13055T>C (p.Ile4352Thr) c.13052T>C (p.Ile4351Thr) c.13004T>C (p.Ile4335Thr) c.12992T>C (p.Ile4331Thr) c.12854T>C (p.Ile4285Thr) c.12701T>C (p.Ile4234Thr) | |
X | g.53534625A>T | CA413146647 | HUWE1 | c.12506T>A (p.Ile4169Asn) c.12722T>A (p.Ile4241Asn) c.3189T>A n.35T>A c.12695T>A (p.Ile4232Asn) c.12971T>A (p.Ile4324Asn) c.12968T>A (p.Ile4323Asn) c.12926T>A (p.Ile4309Asn) c.12923T>A (p.Ile4308Asn) c.12920T>A (p.Ile4307Asn) c.12872T>A (p.Ile4291Asn) c.12569T>A (p.Ile4190Asn) c.13103T>A (p.Ile4368Asn) c.13100T>A (p.Ile4367Asn) c.13082T>A (p.Ile4361Asn) c.13058T>A (p.Ile4353Asn) c.13055T>A (p.Ile4352Asn) c.13052T>A (p.Ile4351Asn) c.13004T>A (p.Ile4335Asn) c.12992T>A (p.Ile4331Asn) c.12854T>A (p.Ile4285Asn) c.12701T>A (p.Ile4234Asn) |