Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.219418499_219419548del | CA1139655693 | DES | c.37_578+508del c.37_495+591del | ClinVar |
2 | g.219418726G>A | CA431427900 | DES | c.264G>A (p.Leu88=) | |
2 | g.219418726G>C | CA431427899 | DES | c.264G>C (p.Leu88=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418726G= | CA1329209957 | DES | c.264G= (p.Leu88=) | |
2 | g.219418726G>T | CA431427898 | DES | c.264G>T (p.Leu88=) | gnomAD v4 |
2 | g.219418727C>A | CA350684650 | DES | c.265C>A (p.Leu89Met) | gnomAD v4 |
2 | g.219418727C= | CA1329209958 | DES | c.265C= (p.Leu89=) | |
2 | g.219418727C>G | CA350684655 | DES | c.265C>G (p.Leu89Val) | |
2 | g.219418727C>T | CA431427904 | DES | c.265C>T (p.Leu89=) | dbSNP |
2 | g.219418728T>A | CA350684671 | DES | c.266T>A (p.Leu89Gln) | gnomAD v4 COSMIC |
2 | g.219418728T>C | CA350684678 | DES | c.266T>C (p.Leu89Pro) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418728T>G | CA350684683 | DES | c.266T>G (p.Leu89Arg) | |
2 | g.219418728T= | CA1329209959 | DES | c.266T= (p.Leu89=) | |
2 | g.219418729G>A | CA431427905 | DES | c.267G>A (p.Leu89=) | |
2 | g.219418729G>C | CA431427906 | DES | c.267G>C (p.Leu89=) | |
2 | g.219418729G>T | CA431427908 | DES | c.267G>T (p.Leu89=) | gnomAD v4 |
2 | g.219418730G>A | CA350684685 | DES | c.268G>A (p.Asp90Asn) | gnomAD v4 |
2 | g.219418730G>C | CA350684687 | DES | c.268G>C (p.Asp90His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418730G= | CA1329209960 | DES | c.268G= (p.Asp90=) | |
2 | g.219418730G>T | CA350684690 | DES | c.268G>T (p.Asp90Tyr) | |
2 | g.219418730_219418731insC | CA539843122 | DES | c.268_269insC (p.Asp90AlafsTer28) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418731A= | CA1329209961 | DES | c.269A= (p.Asp90=) | |
2 | g.219418731A>C | CA350684713 | DES | c.269A>C (p.Asp90Ala) | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.219418731A>G | CA350684716 | DES | c.269A>G (p.Asp90Gly) | |
2 | g.219418731A>T | CA350684720 | DES | c.269A>T (p.Asp90Val) | ClinVar dbSNP |
2 | g.219418732C>A | CA350684722 | DES | c.270C>A (p.Asp90Glu) | dbSNP gnomAD v4 |
2 | g.219418732C= | CA1329209962 | DES | c.270C= (p.Asp90=) | |
2 | g.219418732C>G | CA350684724 | DES | c.270C>G (p.Asp90Glu) | |
2 | g.219418732C>T | CA431427912 | DES | c.270C>T (p.Asp90=) | |
2 | g.219418733T>A | CA350684749 | DES | c.271T>A (p.Phe91Ile) | |
2 | g.219418733T>C | CA350684746 | DES | c.271T>C (p.Phe91Leu) | |
2 | g.219418733T>G | CA350684730 | DES | c.271T>G (p.Phe91Val) | |
2 | g.219418734T>A | CA350684761 | DES | c.272T>A (p.Phe91Tyr) | |
2 | g.219418734T>C | CA350684754 | DES | c.272T>C (p.Phe91Ser) | |
2 | g.219418734T>G | CA350684763 | DES | c.272T>G (p.Phe91Cys) | |
2 | g.219418735C>A | CA350684766 | DES | c.273C>A (p.Phe91Leu) | gnomAD v4 |
2 | g.219418735C= | CA1329209963 | DES | c.273C= (p.Phe91=) | |
2 | g.219418735C>G | CA350684768 | DES | c.273C>G (p.Phe91Leu) | gnomAD v4 |
2 | g.219418735C>T | CA65981039 | DES | c.273C>T (p.Phe91=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418736T>A | CA350684770 | DES | c.274T>A (p.Ser92Thr) | |
2 | g.219418736T>C | CA350684771 | DES | c.274T>C (p.Ser92Pro) | COSMIC |
2 | g.219418736T>G | CA350684773 | DES | c.274T>G (p.Ser92Ala) | |
2 | g.219418737C>A | CA350684777 | DES | c.275C>A (p.Ser92Ter) | gnomAD v4 |
2 | g.219418737C= | CA1329209964 | DES | c.275C= (p.Ser92=) | |
2 | g.219418737C>G | CA350684776 | DES | c.275C>G (p.Ser92Ter) | |
2 | g.219418737C>T | CA350684775 | DES | c.275C>T (p.Ser92Leu) | ClinVar dbSNP gnomAD v4 |
2 | g.219418738A= | CA1329209965 | DES | c.276A= (p.Ser92=) | |
2 | g.219418738A>C | CA431427920 | DES | c.276A>C (p.Ser92=) | |
2 | g.219418738A>G | CA431427922 | DES | c.276A>G (p.Ser92=) | dbSNP |
2 | g.219418738A>T | CA431427921 | DES | c.276A>T (p.Ser92=) | |
2 | g.219418739C>A | CA350684779 | DES | c.277C>A (p.Leu93Met) | |
2 | g.219418739C= | CA1329209966 | DES | c.277C= (p.Leu93=) | |
2 | g.219418739C>G | CA350684780 | DES | c.277C>G (p.Leu93Val) | gnomAD v4 |
2 | g.219418739C>T | CA65981047 | DES | c.277C>T (p.Leu93=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418740T>A | CA350684786 | DES | c.278T>A (p.Leu93Gln) | |
2 | g.219418740T>C | CA350684789 | DES | c.278T>C (p.Leu93Pro) | ClinVar gnomAD v4 |
2 | g.219418740T>G | CA350684795 | DES | c.278T>G (p.Leu93Arg) | |
2 | g.219418741G>A | CA431427923 | DES | c.279G>A (p.Leu93=) | gnomAD v4 |
2 | g.219418741G>C | CA431427924 | DES | c.279G>C (p.Leu93=) | |
2 | g.219418741G>T | CA431427926 | DES | c.279G>T (p.Leu93=) | |
2 | g.219418742G>A | CA350684801 | DES | c.280G>A (p.Ala94Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418742G>C | CA350684815 | DES | c.280G>C (p.Ala94Pro) | gnomAD v4 |
2 | g.219418742G= | CA1329209967 | DES | c.280G= (p.Ala94=) | |
2 | g.219418742G>T | CA350684810 | DES | c.280G>T (p.Ala94Ser) | |
2 | g.219418743C>A | CA350684817 | DES | c.281C>A (p.Ala94Asp) | |
2 | g.219418743C= | CA1329209968 | DES | c.281C= (p.Ala94=) | |
2 | g.219418743C>G | CA350684820 | DES | c.281C>G (p.Ala94Gly) | |
2 | g.219418743C>T | CA350684826 | DES | c.281C>T (p.Ala94Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418744C>A | CA431427931 | DES | c.282C>A (p.Ala94=) | |
2 | g.219418744C= | CA1329209969 | DES | c.282C= (p.Ala94=) | |
2 | g.219418744C>G | CA133841 | DES | c.282C>G (p.Ala94=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418744C>T | CA431427932 | DES | c.282C>T (p.Ala94=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418745G>A | CA350684837 | DES | c.283G>A (p.Asp95Asn) | gnomAD v4 |
2 | g.219418745G>C | CA350684846 | DES | c.283G>C (p.Asp95His) | |
2 | g.219418745G>T | CA350684851 | DES | c.283G>T (p.Asp95Tyr) | gnomAD v4 |
2 | g.219418746A= | CA1329209970 | DES | c.284A= (p.Asp95=) | |
2 | g.219418746A>C | CA350684856 | DES | c.284A>C (p.Asp95Ala) | |
2 | g.219418746A>G | CA350684861 | DES | c.284A>G (p.Asp95Gly) | |
2 | g.219418746A>T | CA350684863 | DES | c.284A>T (p.Asp95Val) | ClinVar dbSNP |
2 | g.219418747C>A | CA350684888 | DES | c.285C>A (p.Asp95Glu) | gnomAD v4 |
2 | g.219418747C= | CA1329209971 | DES | c.285C= (p.Asp95=) | |
2 | g.219418747C>G | CA350684885 | DES | c.285C>G (p.Asp95Glu) | |
2 | g.219418747C>T | CA2125050 | DES | c.285C>T (p.Asp95=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418748G>A | CA350684893 | DES | c.286G>A (p.Ala96Thr) | gnomAD v4 |
2 | g.219418748G>C | CA350684898 | DES | c.286G>C (p.Ala96Pro) | |
2 | g.219418748G= | CA1329209972 | DES | c.286G= (p.Ala96=) | |
2 | g.219418748G>T | CA10587549 | DES | c.286G>T (p.Ala96Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418749C>A | CA65981058 | DES | c.287C>A (p.Ala96Glu) | dbSNP gnomAD v4 |
2 | g.219418749C= | CA1329209973 | DES | c.287C= (p.Ala96=) | |
2 | g.219418749C>G | CA350684907 | DES | c.287C>G (p.Ala96Gly) | ClinVar |
2 | g.219418749C>T | CA350684913 | DES | c.287C>T (p.Ala96Val) | COSMIC |
2 | g.219418750G>A | CA431427939 | DES | c.288G>A (p.Ala96=) | gnomAD v4 |
2 | g.219418750G>C | CA431427940 | DES | c.288G>C (p.Ala96=) | dbSNP |
2 | g.219418750G= | CA1329209974 | DES | c.288G= (p.Ala96=) | |
2 | g.219418750G>T | CA431427941 | DES | c.288G>T (p.Ala96=) | gnomAD v4 |
2 | g.219418751G>A | CA350684928 | DES | c.289G>A (p.Val97Met) | gnomAD v4 |
2 | g.219418751G>C | CA350684929 | DES | c.289G>C (p.Val97Leu) | |
2 | g.219418751G>T | CA350684930 | DES | c.289G>T (p.Val97Leu) | |
2 | g.219418752T>A | CA350684933 | DES | c.290T>A (p.Val97Glu) | gnomAD v4 |
2 | g.219418752T>C | CA350684936 | DES | c.290T>C (p.Val97Ala) | |
2 | g.219418752T>G | CA350684938 | DES | c.290T>G (p.Val97Gly) | |
2 | g.219418753G>A | CA2125051 | DES | c.291G>A (p.Val97=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418753G>C | CA431427946 | DES | c.291G>C (p.Val97=) | |
2 | g.219418753G= | CA1329209975 | DES | c.291G= (p.Val97=) | |
2 | g.219418753G>T | CA431427947 | DES | c.291G>T (p.Val97=) | gnomAD v4 |
2 | g.219418754A>C | CA350684952 | DES | c.292A>C (p.Asn98His) | |
2 | g.219418754A>G | CA350684947 | DES | c.292A>G (p.Asn98Asp) | gnomAD v4 |
2 | g.219418754A>T | CA350684950 | DES | c.292A>T (p.Asn98Tyr) | ClinVar |
2 | g.219418755A>C | CA350684954 | DES | c.293A>C (p.Asn98Thr) | |
2 | g.219418755A>G | CA350684957 | DES | c.293A>G (p.Asn98Ser) | gnomAD v4 |
2 | g.219418755A>T | CA350684962 | DES | c.293A>T (p.Asn98Ile) | |
2 | g.219418756C>A | CA350684967 | DES | c.294C>A (p.Asn98Lys) | |
2 | g.219418756C= | CA1329209976 | DES | c.294C= (p.Asn98=) | |
2 | g.219418756C>G | CA350684971 | DES | c.294C>G (p.Asn98Lys) | |
2 | g.219418756C>T | CA431427458 | DES | c.294C>T (p.Asn98=) | ClinVar dbSNP gnomAD v4 |
2 | g.219418757C>A | CA350684976 | DES | c.295C>A (p.Gln99Lys) | gnomAD v4 |
2 | g.219418757C= | CA1329209977 | DES | c.295C= (p.Gln99=) | |
2 | g.219418757C>G | CA308304 | DES | c.295C>G (p.Gln99Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418757C>T | CA350684982 | DES | c.295C>T (p.Gln99Ter) | |
2 | g.219418758A>C | CA350684988 | DES | c.296A>C (p.Gln99Pro) | |
2 | g.219418758A>G | CA350684991 | DES | c.296A>G (p.Gln99Arg) | |
2 | g.219418758A>T | CA350685000 | DES | c.296A>T (p.Gln99Leu) | |
2 | g.219418759G>A | CA431427461 | DES | c.297G>A (p.Gln99=) | |
2 | g.219418759G>C | CA350685006 | DES | c.297G>C (p.Gln99His) | |
2 | g.219418759G>T | CA350685009 | DES | c.297G>T (p.Gln99His) | gnomAD v4 |
2 | g.219418760G>A | CA350685014 | DES | c.298G>A (p.Glu100Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418760G>C | CA350685017 | DES | c.298G>C (p.Glu100Gln) | gnomAD v4 |
2 | g.219418760G= | CA1329209978 | DES | c.298G= (p.Glu100=) | |
2 | g.219418760G>T | CA350685013 | DES | c.298G>T (p.Glu100Ter) | |
2 | g.219418761A= | CA1329209979 | DES | c.299A= (p.Glu100=) | |
2 | g.219418761A>C | CA308307 | DES | c.299A>C (p.Glu100Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418761A>G | CA350685021 | DES | c.299A>G (p.Glu100Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418761A>T | CA350685024 | DES | c.299A>T (p.Glu100Val) | |
2 | g.219418762G>A | CA431427465 | DES | c.300G>A (p.Glu100=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418762G>C | CA350685030 | DES | c.300G>C (p.Glu100Asp) | |
2 | g.219418762G= | CA1329209980 | DES | c.300G= (p.Glu100=) | |
2 | g.219418762G>T | CA350685036 | DES | c.300G>T (p.Glu100Asp) | gnomAD v4 |
2 | g.219418762dup | CA2580065780 | DES | c.300dup (p.Phe101ValfsTer17) | ClinVar |
2 | g.219418763T>A | CA350685046 | DES | c.301T>A (p.Phe101Ile) | |
2 | g.219418763T>C | CA350685050 | DES | c.301T>C (p.Phe101Leu) | |
2 | g.219418763T>G | CA350685056 | DES | c.301T>G (p.Phe101Val) | |
2 | g.219418764T>A | CA350685063 | DES | c.302T>A (p.Phe101Tyr) | |
2 | g.219418764T>C | CA350685069 | DES | c.302T>C (p.Phe101Ser) | |
2 | g.219418764T>G | CA350685067 | DES | c.302T>G (p.Phe101Cys) | |
2 | g.219418765T>A | CA350685072 | DES | c.303T>A (p.Phe101Leu) | |
2 | g.219418765T>C | CA431427467 | DES | c.303T>C (p.Phe101=) | ClinVar dbSNP |
2 | g.219418765T>G | CA350685074 | DES | c.303T>G (p.Phe101Leu) | |
2 | g.219418766C>A | CA350685079 | DES | c.304C>A (p.Leu102Met) | gnomAD v4 |
2 | g.219418766C>G | CA350685082 | DES | c.304C>G (p.Leu102Val) | |
2 | g.219418766C>T | CA431427468 | DES | c.304C>T (p.Leu102=) | gnomAD v4 |
2 | g.219418767T>A | CA350685091 | DES | c.305T>A (p.Leu102Gln) | |
2 | g.219418767T>C | CA350685096 | DES | c.305T>C (p.Leu102Pro) | |
2 | g.219418767T>G | CA350685095 | DES | c.305T>G (p.Leu102Arg) | |
2 | g.219418768G>A | CA431427471 | DES | c.306G>A (p.Leu102=) | ClinVar dbSNP gnomAD v4 |
2 | g.219418768G>C | CA431427473 | DES | c.306G>C (p.Leu102=) | |
2 | g.219418768G>T | CA431427475 | DES | c.306G>T (p.Leu102=) | gnomAD v4 |
2 | g.219418769A= | CA1329209981 | DES | c.307A= (p.Thr103=) | |
2 | g.219418769A>C | CA350685099 | DES | c.307A>C (p.Thr103Pro) | |
2 | g.219418769A>G | CA350685107 | DES | c.307A>G (p.Thr103Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418769A>T | CA350685111 | DES | c.307A>T (p.Thr103Ser) | |
2 | g.219418770C>A | CA350685112 | DES | c.308C>A (p.Thr103Asn) | |
2 | g.219418770C>G | CA350685113 | DES | c.308C>G (p.Thr103Ser) | gnomAD v4 |
2 | g.219418770C>T | CA350685117 | DES | c.308C>T (p.Thr103Ile) | gnomAD v4 |
2 | g.219418771del | CA2499215678 | DES | c.309del (p.Thr104ArgfsTer?) | ClinVar dbSNP |
2 | g.219418771C>A | CA431427476 | DES | c.309C>A (p.Thr103=) | gnomAD v4 |
2 | g.219418771C>G | CA431427478 | DES | c.309C>G (p.Thr103=) | |
2 | g.219418771C>T | CA431427480 | DES | c.309C>T (p.Thr103=) | ClinVar gnomAD v4 |
2 | g.219418772A= | CA1329209982 | DES | c.310A= (p.Thr104=) | |
2 | g.219418772A>C | CA350685122 | DES | c.310A>C (p.Thr104Pro) | |
2 | g.219418772A>G | CA350685125 | DES | c.310A>G (p.Thr104Ala) | ClinVar dbSNP gnomAD v4 |
2 | g.219418772A>T | CA350685128 | DES | c.310A>T (p.Thr104Ser) | |
2 | g.219418773C>A | CA350685131 | DES | c.311C>A (p.Thr104Lys) | gnomAD v4 |
2 | g.219418773C= | CA1329209983 | DES | c.311C= (p.Thr104=) | |
2 | g.219418773C>G | CA350685142 | DES | c.311C>G (p.Thr104Arg) | ClinVar dbSNP |
2 | g.219418773C>T | CA65981069 | DES | c.311C>T (p.Thr104Met) | ClinVar dbSNP gnomAD v4 |
2 | g.219418774G>A | CA431427482 | DES | c.312G>A (p.Thr104=) | gnomAD v4 COSMIC |
2 | g.219418774G>C | CA431427483 | DES | c.312G>C (p.Thr104=) | |
2 | g.219418774G= | CA1329209984 | DES | c.312G= (p.Thr104=) | |
2 | g.219418774G>T | CA431427484 | DES | c.312G>T (p.Thr104=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418775C>A | CA350685157 | DES | c.313C>A (p.Arg105Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418775C= | CA1329209985 | DES | c.313C= (p.Arg105=) | |
2 | g.219418775C>G | CA350685153 | DES | c.313C>G (p.Arg105Gly) | ClinVar |
2 | g.219418775C>T | CA308310 | DES | c.313C>T (p.Arg105Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418776G>A | CA350685159 | DES | c.314G>A (p.Arg105His) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418776G>C | CA350685163 | DES | c.314G>C (p.Arg105Pro) | ClinVar |
2 | g.219418776G= | CA1329209986 | DES | c.314G= (p.Arg105=) | |
2 | g.219418776G>T | CA350685162 | DES | c.314G>T (p.Arg105Leu) | ClinVar dbSNP gnomAD v4 |
2 | g.219418776_219418777delinsCT | CA2580065781 | DES | c.314_315delinsCT (p.Arg105Pro) | ClinVar |
2 | g.219418777C>A | CA431427487 | DES | c.315C>A (p.Arg105=) | |
2 | g.219418777C>G | CA431427488 | DES | c.315C>G (p.Arg105=) | gnomAD v4 |
2 | g.219418777C>T | CA431427489 | DES | c.315C>T (p.Arg105=) | ClinVar gnomAD v4 |
2 | g.219418778A>C | CA350685166 | DES | c.316A>C (p.Thr106Pro) | |
2 | g.219418778A>G | CA350685169 | DES | c.316A>G (p.Thr106Ala) | COSMIC |
2 | g.219418778A>T | CA350685176 | DES | c.316A>T (p.Thr106Ser) | |
2 | g.219418779C>A | CA350685182 | DES | c.317C>A (p.Thr106Asn) | gnomAD v4 |
2 | g.219418779C= | CA1329209987 | DES | c.317C= (p.Thr106=) | |
2 | g.219418779C>G | CA350685190 | DES | c.317C>G (p.Thr106Ser) | dbSNP gnomAD v2 |
2 | g.219418779C>T | CA350685191 | DES | c.317C>T (p.Thr106Ile) | gnomAD v4 |
2 | g.219418780C>A | CA431427495 | DES | c.318C>A (p.Thr106=) | gnomAD v4 |
2 | g.219418780C>G | CA431427496 | DES | c.318C>G (p.Thr106=) | |
2 | g.219418780C>T | CA431427497 | DES | c.318C>T (p.Thr106=) | gnomAD v4 |
2 | g.219418781A>C | CA350685193 | DES | c.319A>C (p.Asn107His) | |
2 | g.219418781A>G | CA350685194 | DES | c.319A>G (p.Asn107Asp) | ClinVar dbSNP |
2 | g.219418781A>T | CA350685195 | DES | c.319A>T (p.Asn107Tyr) | |
2 | g.219418782A= | CA1329209988 | DES | c.320A= (p.Asn107=) | |
2 | g.219418782A>C | CA350685197 | DES | c.320A>C (p.Asn107Thr) | ClinVar dbSNP |
2 | g.219418782A>G | CA350685199 | DES | c.320A>G (p.Asn107Ser) | |
2 | g.219418782A>T | CA350685201 | DES | c.320A>T (p.Asn107Ile) | gnomAD v4 |
2 | g.219418783C>A | CA350685203 | DES | c.321C>A (p.Asn107Lys) | ClinVar |
2 | g.219418783C= | CA1329209989 | DES | c.321C= (p.Asn107=) | |
2 | g.219418783C>G | CA350685204 | DES | c.321C>G (p.Asn107Lys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418783C>T | CA431427503 | DES | c.321C>T (p.Asn107=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418784G>A | CA217060 | DES | c.322G>A (p.Glu108Lys) | ClinVar dbSNP gnomAD v4 |
2 | g.219418784G>C | CA350685210 | DES | c.322G>C (p.Glu108Gln) | |
2 | g.219418784G= | CA1329209990 | DES | c.322G= (p.Glu108=) | |
2 | g.219418784G>T | CA350685213 | DES | c.322G>T (p.Glu108Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.219418785A= | CA1329209991 | DES | c.323A= (p.Glu108=) | |
2 | g.219418785A>C | CA350685215 | DES | c.323A>C (p.Glu108Ala) | |
2 | g.219418785A>G | CA350685218 | DES | c.323A>G (p.Glu108Gly) | ClinVar dbSNP |
2 | g.219418785A>T | CA350685221 | DES | c.323A>T (p.Glu108Val) | |
2 | g.219418786G>A | CA180958 | DES | c.324G>A (p.Glu108=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418786G>C | CA350685227 | DES | c.324G>C (p.Glu108Asp) | |
2 | g.219418786G= | CA1329209992 | DES | c.324G= (p.Glu108=) | |
2 | g.219418786G>T | CA350685230 | DES | c.324G>T (p.Glu108Asp) | gnomAD v4 |
2 | g.219418787A= | CA1329209993 | DES | c.325A= (p.Lys109=) | |
2 | g.219418787A>C | CA350685235 | DES | c.325A>C (p.Lys109Gln) | |
2 | g.219418787A>G | CA350685236 | DES | c.325A>G (p.Lys109Glu) | ClinVar dbSNP |
2 | g.219418787A>T | CA350685240 | DES | c.325A>T (p.Lys109Ter) | |
2 | g.219418788A= | CA1329209994 | DES | c.326A= (p.Lys109=) | |
2 | g.219418788A>C | CA350685243 | DES | c.326A>C (p.Lys109Thr) | |
2 | g.219418788A>G | CA350685248 | DES | c.326A>G (p.Lys109Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418788A>T | CA350685245 | DES | c.326A>T (p.Lys109Met) | |
2 | g.219418789G>A | CA431427507 | DES | c.327G>A (p.Lys109=) | |
2 | g.219418789G>C | CA350685254 | DES | c.327G>C (p.Lys109Asn) | ClinVar |
2 | g.219418789G>T | CA350685256 | DES | c.327G>T (p.Lys109Asn) | ClinVar dbSNP gnomAD v4 |
2 | g.219418790G>A | CA350685260 | DES | c.328G>A (p.Val110Met) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418790G>C | CA2125052 | DES | c.328G>C (p.Val110Leu) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.219418790G= | CA1329209995 | DES | c.328G= (p.Val110=) | |
2 | g.219418790G>T | CA350685264 | DES | c.328G>T (p.Val110Leu) | |
2 | g.219418791T>A | CA350685268 | DES | c.329T>A (p.Val110Glu) | |
2 | g.219418791T>C | CA350685276 | DES | c.329T>C (p.Val110Ala) | |
2 | g.219418791T>G | CA350685279 | DES | c.329T>G (p.Val110Gly) | |
2 | g.219418791_219418800delinsTGGAGCTGCA | CA1329209996 | DES | c.329_338delinsTGGAGCTGCA (p.Val110=) | |
2 | g.219418792G>A | CA431427511 | DES | c.330G>A (p.Val110=) | gnomAD v4 |
2 | g.219418792G>C | CA431427513 | DES | c.330G>C (p.Val110=) | |
2 | g.219418792G>T | CA431427514 | DES | c.330G>T (p.Val110=) | |
2 | g.219418798_219418806del | CA658821235 | DES | c.336_344del (p.Gln113_Leu115del) | ClinVar dbSNP |
2 | g.219418793G>A | CA350685282 | DES | c.331G>A (p.Glu111Lys) | gnomAD v4 |
2 | g.219418793G>C | CA350685289 | DES | c.331G>C (p.Glu111Gln) | |
2 | g.219418793G>T | CA350685292 | DES | c.331G>T (p.Glu111Ter) | gnomAD v4 |
2 | g.219418794A= | CA1329209997 | DES | c.332A= (p.Glu111=) | |
2 | g.219418794A>C | CA350685295 | DES | c.332A>C (p.Glu111Ala) | |
2 | g.219418794A>G | CA350685299 | DES | c.332A>G (p.Glu111Gly) | ClinVar dbSNP |
2 | g.219418794A>T | CA350685302 | DES | c.332A>T (p.Glu111Val) | gnomAD v4 |
2 | g.219418795G>A | CA431427516 | DES | c.333G>A (p.Glu111=) | |
2 | g.219418795G>C | CA350685313 | DES | c.333G>C (p.Glu111Asp) | |
2 | g.219418795G>T | CA350685307 | DES | c.333G>T (p.Glu111Asp) | gnomAD v4 |
2 | g.219418796C>A | CA350685317 | DES | c.334C>A (p.Leu112Met) | gnomAD v4 |
2 | g.219418796C>G | CA350685320 | DES | c.334C>G (p.Leu112Val) | |
2 | g.219418796C>T | CA431427520 | DES | c.334C>T (p.Leu112=) | |
2 | g.219418797T>A | CA350685325 | DES | c.335T>A (p.Leu112Gln) | |
2 | g.219418797T>C | CA350685328 | DES | c.335T>C (p.Leu112Pro) | |
2 | g.219418797T>G | CA350685330 | DES | c.335T>G (p.Leu112Arg) | ClinVar dbSNP |
2 | g.219418797T= | CA1329209998 | DES | c.335T= (p.Leu112=) | |
2 | g.219418798G>A | CA431427521 | DES | c.336G>A (p.Leu112=) | gnomAD v4 |
2 | g.219418798G>C | CA431427522 | DES | c.336G>C (p.Leu112=) | |
2 | g.219418798G>T | CA431427523 | DES | c.336G>T (p.Leu112=) | gnomAD v4 |
2 | g.219418799C>A | CA350685333 | DES | c.337C>A (p.Gln113Lys) | gnomAD v4 |
2 | g.219418799C>G | CA350685336 | DES | c.337C>G (p.Gln113Glu) | |
2 | g.219418799C>T | CA350685338 | DES | c.337C>T (p.Gln113Ter) | gnomAD v4 |
2 | g.219418799_219418801delinsCAG | CA1329210000 | DES | c.337_339delinsCAG (p.Gln113=) | |
2 | g.219418799_219418802delinsCAGG | CA1329209999 | DES | c.337_340delinsCAGG (p.Gln113=) | |
2 | g.219418800A>C | CA350685342 | DES | c.338A>C (p.Gln113Pro) | |
2 | g.219418800A>G | CA350685345 | DES | c.338A>G (p.Gln113Arg) | |
2 | g.219418800A>T | CA350685346 | DES | c.338A>T (p.Gln113Leu) | |
2 | g.219418800_219418801del | CA217063 | DES | c.338_339del (p.Gln113ArgfsTer4) | ClinVar dbSNP |
2 | g.219418802_219418804del | CA217064 | DES | c.340_342del (p.Glu114del) | ClinVar dbSNP |
2 | g.219418801G>A | CA431427525 | DES | c.339G>A (p.Gln113=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418801G>C | CA350685357 | DES | c.339G>C (p.Gln113His) | |
2 | g.219418801G= | CA1329210001 | DES | c.339G= (p.Gln113=) | |
2 | g.219418801G>T | CA350685354 | DES | c.339G>T (p.Gln113His) | |
2 | g.219418802G>A | CA350685366 | DES | c.340G>A (p.Glu114Lys) | |
2 | g.219418802G>C | CA350685363 | DES | c.340G>C (p.Glu114Gln) | |
2 | g.219418802G>T | CA350685364 | DES | c.340G>T (p.Glu114Ter) | gnomAD v4 |
2 | g.219418803A>C | CA350685368 | DES | c.341A>C (p.Glu114Ala) | |
2 | g.219418803A>G | CA350685372 | DES | c.341A>G (p.Glu114Gly) | ClinVar dbSNP |
2 | g.219418803A>T | CA350685375 | DES | c.341A>T (p.Glu114Val) | |
2 | g.219418804G>A | CA431427529 | DES | c.342G>A (p.Glu114=) | gnomAD v4 |
2 | g.219418804G>C | CA350685378 | DES | c.342G>C (p.Glu114Asp) | |
2 | g.219418804G>T | CA350685381 | DES | c.342G>T (p.Glu114Asp) | gnomAD v4 |
2 | g.219418805C>A | CA350685384 | DES | c.343C>A (p.Leu115Ile) | ClinVar gnomAD v4 |
2 | g.219418805C= | CA1329210002 | DES | c.343C= (p.Leu115=) | |
2 | g.219418805C>G | CA350685385 | DES | c.343C>G (p.Leu115Val) | |
2 | g.219418805C>T | CA350685389 | DES | c.343C>T (p.Leu115Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418806T>A | CA350685391 | DES | c.344T>A (p.Leu115His) | |
2 | g.219418806T>C | CA350685393 | DES | c.344T>C (p.Leu115Pro) | ClinVar dbSNP gnomAD v4 |
2 | g.219418806T>G | CA350685396 | DES | c.344T>G (p.Leu115Arg) | |
2 | g.219418807C>A | CA2125053 | DES | c.345C>A (p.Leu115=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418807C= | CA1329210003 | DES | c.345C= (p.Leu115=) | |
2 | g.219418807C>G | CA431427533 | DES | c.345C>G (p.Leu115=) | ClinVar dbSNP |
2 | g.219418807C>T | CA431427535 | DES | c.345C>T (p.Leu115=) | |
2 | g.219418807dup | CA2573051861 | DES | c.345dup (p.Asn116GlnfsTer2) | dbSNP |
2 | g.219418808A>C | CA350685403 | DES | c.346A>C (p.Asn116His) | |
2 | g.219418808A>G | CA350685405 | DES | c.346A>G (p.Asn116Asp) | |
2 | g.219418808A>T | CA350685407 | DES | c.346A>T (p.Asn116Tyr) | |
2 | g.219418808_219418812delinsTAGT | CA2580065782 | DES | c.346_350delinsTAGT (p.Asn116Ter) | ClinVar |
2 | g.219418809A= | CA1329210004 | DES | c.347A= (p.Asn116=) | |
2 | g.219418809A>C | CA350685412 | DES | c.347A>C (p.Asn116Thr) | |
2 | g.219418809A>G | CA217067 | DES | c.347A>G (p.Asn116Ser) | ClinVar dbSNP |
2 | g.219418809A>T | CA10576588 | DES | c.347A>T (p.Asn116Ile) | ClinVar dbSNP |
2 | g.219418810T>A | CA350685418 | DES | c.348T>A (p.Asn116Lys) | ClinVar dbSNP gnomAD v4 |
2 | g.219418810T>C | CA2125054 | DES | c.348T>C (p.Asn116=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418810T>G | CA350685429 | DES | c.348T>G (p.Asn116Lys) | |
2 | g.219418810T= | CA1329210005 | DES | c.348T= (p.Asn116=) | |
2 | g.219418811G>A | CA350685432 | DES | c.349G>A (p.Asp117Asn) | gnomAD v4 |
2 | g.219418811G>C | CA350685435 | DES | c.349G>C (p.Asp117His) | ClinVar dbSNP |
2 | g.219418811G= | CA1329210006 | DES | c.349G= (p.Asp117=) | |
2 | g.219418811G>T | CA350685439 | DES | c.349G>T (p.Asp117Tyr) | gnomAD v4 |
2 | g.219418812A>C | CA350685451 | DES | c.350A>C (p.Asp117Ala) | gnomAD v4 |
2 | g.219418812A>G | CA350685455 | DES | c.350A>G (p.Asp117Gly) | gnomAD v4 |
2 | g.219418812A>T | CA350685453 | DES | c.350A>T (p.Asp117Val) | |
2 | g.219418813C>A | CA350685457 | DES | c.351C>A (p.Asp117Glu) | |
2 | g.219418813C= | CA1329210007 | DES | c.351C= (p.Asp117=) | |
2 | g.219418813C>G | CA350685459 | DES | c.351C>G (p.Asp117Glu) | |
2 | g.219418813C>T | CA431427543 | DES | c.351C>T (p.Asp117=) | ClinVar dbSNP gnomAD v4 |
2 | g.219418814C>A | CA350685460 | DES | c.352C>A (p.Arg118Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418814C= | CA1329210008 | DES | c.352C= (p.Arg118=) | |
2 | g.219418814C>G | CA350685462 | DES | c.352C>G (p.Arg118Gly) | |
2 | g.219418814C>T | CA350685461 | DES | c.352C>T (p.Arg118Cys) | ClinVar dbSNP |
2 | g.219418815G>A | CA2125055 | DES | c.353G>A (p.Arg118His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418815G>C | CA350685464 | DES | c.353G>C (p.Arg118Pro) | |
2 | g.219418815G= | CA1329210009 | DES | c.353G= (p.Arg118=) | |
2 | g.219418815G>T | CA65981149 | DES | c.353G>T (p.Arg118Leu) | dbSNP gnomAD v4 |
2 | g.219418816C>A | CA431427545 | DES | c.354C>A (p.Arg118=) | gnomAD v4 |
2 | g.219418816C= | CA1329210010 | DES | c.354C= (p.Arg118=) | |
2 | g.219418816C>G | CA431427546 | DES | c.354C>G (p.Arg118=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418816C>T | CA431427547 | DES | c.354C>T (p.Arg118=) | gnomAD v4 |
2 | g.219418817T>A | CA350685466 | DES | c.355T>A (p.Phe119Ile) | |
2 | g.219418817T>C | CA350685472 | DES | c.355T>C (p.Phe119Leu) | |
2 | g.219418817T>G | CA350685468 | DES | c.355T>G (p.Phe119Val) | |
2 | g.219418818T>A | CA350685476 | DES | c.356T>A (p.Phe119Tyr) | |
2 | g.219418818T>C | CA350685483 | DES | c.356T>C (p.Phe119Ser) | |
2 | g.219418818T>G | CA350685478 | DES | c.356T>G (p.Phe119Cys) | |
2 | g.219418819C>A | CA350685486 | DES | c.357C>A (p.Phe119Leu) | gnomAD v4 |
2 | g.219418819C= | CA1329210011 | DES | c.357C= (p.Phe119=) | |
2 | g.219418819C>G | CA350685489 | DES | c.357C>G (p.Phe119Leu) | |
2 | g.219418819C>T | CA431427551 | DES | c.357C>T (p.Phe119=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.219418820G>A | CA350685493 | DES | c.358G>A (p.Ala120Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.219418820G>C | CA308328 | DES | c.358G>C (p.Ala120Pro) | ClinVar dbSNP |
2 | g.219418820G= | CA1329210012 | DES | c.358G= (p.Ala120=) | |
2 | g.219418820G>T | CA350685497 | DES | c.358G>T (p.Ala120Ser) | gnomAD v4 |
2 | g.219418821C>A | CA350685499 | DES | c.359C>A (p.Ala120Asp) | ClinVar dbSNP |
2 | g.219418821C= | CA1329210013 | DES | c.359C= (p.Ala120=) | |
2 | g.219418821C>G | CA350685502 | DES | c.359C>G (p.Ala120Gly) | ClinVar |
2 | g.219418821C>T | CA350685505 | DES | c.359C>T (p.Ala120Val) | |
2 | g.219418822C>A | CA431427556 | DES | c.360C>A (p.Ala120=) | gnomAD v4 |
2 | g.219418822C= | CA1329210014 | DES | c.360C= (p.Ala120=) | |
2 | g.219418822C>G | CA431427558 | DES | c.360C>G (p.Ala120=) | |
2 | g.219418822C>T | CA431427557 | DES | c.360C>T (p.Ala120=) | ClinVar dbSNP gnomAD v4 |
2 | g.219418823A= | CA1329210015 | DES | c.361A= (p.Asn121=) | |
2 | g.219418823A>C | CA350685511 | DES | c.361A>C (p.Asn121His) | ClinVar dbSNP |
2 | g.219418823A>G | CA350685513 | DES | c.361A>G (p.Asn121Asp) | dbSNP |
2 | g.219418823A>T | CA350685516 | DES | c.361A>T (p.Asn121Tyr) | |
2 | g.219418824A= | CA1329210016 | DES | c.362A= (p.Asn121=) | |
2 | g.219418824A>C | CA350685519 | DES | c.362A>C (p.Asn121Thr) | |
2 | g.219418824A>G | CA350685524 | DES | c.362A>G (p.Asn121Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418824A>T | CA350685526 | DES | c.362A>T (p.Asn121Ile) | gnomAD v4 |
2 | g.219418825C>A | CA350685529 | DES | c.363C>A (p.Asn121Lys) | gnomAD v4 |
2 | g.219418825C= | CA1329210017 | DES | c.363C= (p.Asn121=) | |
2 | g.219418825C>G | CA2125056 | DES | c.363C>G (p.Asn121Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418825C>T | CA431427560 | DES | c.363C>T (p.Asn121=) | gnomAD v4 |
2 | g.219418826T>A | CA350685541 | DES | c.364T>A (p.Tyr122Asn) | |
2 | g.219418826T>C | CA350685538 | DES | c.364T>C (p.Tyr122His) | gnomAD v4 |
2 | g.219418826T>G | CA308313 | DES | c.364T>G (p.Tyr122Asp) | ClinVar dbSNP |
2 | g.219418826T= | CA1329210018 | DES | c.364T= (p.Tyr122=) |