Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.219418499_219419548del | CA1139655693 | DES | c.37_578+508del c.37_495+591del | ClinVar |
2 | g.219418697A>C | CA350684306 | DES | c.235A>C (p.Thr79Pro) | ClinVar |
2 | g.219418697A>G | CA350684294 | DES | c.235A>G (p.Thr79Ala) | dbSNP |
2 | g.219418697A>T | CA350684292 | DES | c.235A>T (p.Thr79Ser) | |
2 | g.219418698C>A | CA350684310 | DES | c.236C>A (p.Thr79Lys) | |
2 | g.219418698C= | CA1329209944 | DES | c.236C= (p.Thr79=) | |
2 | g.219418698C>G | CA350684311 | DES | c.236C>G (p.Thr79Arg) | |
2 | g.219418698C>T | CA350684312 | DES | c.236C>T (p.Thr79Met) | ClinVar dbSNP gnomAD v4 |
2 | g.219418699G>A | CA233899 | DES | c.237G>A (p.Thr79=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418699G>C | CA431427829 | DES | c.237G>C (p.Thr79=) | gnomAD v4 |
2 | g.219418699G= | CA1329209945 | DES | c.237G= (p.Thr79=) | |
2 | g.219418699G>T | CA431427832 | DES | c.237G>T (p.Thr79=) | gnomAD v4 |
2 | g.219418700C>A | CA350684321 | DES | c.238C>A (p.Pro80Thr) | gnomAD v4 |
2 | g.219418700C>G | CA350684322 | DES | c.238C>G (p.Pro80Ala) | |
2 | g.219418700C>T | CA350684323 | DES | c.238C>T (p.Pro80Ser) | ClinVar gnomAD v4 |
2 | g.219418701C>A | CA350684326 | DES | c.239C>A (p.Pro80His) | gnomAD v4 |
2 | g.219418701C>G | CA350684339 | DES | c.239C>G (p.Pro80Arg) | |
2 | g.219418701C>T | CA350684352 | DES | c.239C>T (p.Pro80Leu) | dbSNP gnomAD v4 |
2 | g.219418707_219418709dup | CA2663249661 | DES | c.245_247dup (p.Ser82_Tyr83insSer) | gnomAD v4 |
2 | g.219418707_219418709del | CA2580616702 | DES | c.245_247del (p.Ser82del) | ClinVar |
2 | g.219418702C>A | CA431427838 | DES | c.240C>A (p.Pro80=) | gnomAD v4 |
2 | g.219418702C= | CA1329209946 | DES | c.240C= (p.Pro80=) | |
2 | g.219418702C>G | CA431427839 | DES | c.240C>G (p.Pro80=) | |
2 | g.219418702C>T | CA431427840 | DES | c.240C>T (p.Pro80=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418703T>A | CA350684357 | DES | c.241T>A (p.Ser81Thr) | |
2 | g.219418703T>C | CA350684358 | DES | c.241T>C (p.Ser81Pro) | |
2 | g.219418703T>G | CA350684359 | DES | c.241T>G (p.Ser81Ala) | |
2 | g.219418704C>A | CA350684372 | DES | c.242C>A (p.Ser81Tyr) | |
2 | g.219418704C>G | CA350684376 | DES | c.242C>G (p.Ser81Cys) | |
2 | g.219418704C>T | CA350684368 | DES | c.242C>T (p.Ser81Phe) | gnomAD v4 |
2 | g.219418705C>A | CA2125046 | DES | c.243C>A (p.Ser81=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418705C= | CA1329209947 | DES | c.243C= (p.Ser81=) | |
2 | g.219418705C>G | CA431427850 | DES | c.243C>G (p.Ser81=) | |
2 | g.219418705C>T | CA184122 | DES | c.243C>T (p.Ser81=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418706T>A | CA350684392 | DES | c.244T>A (p.Ser82Thr) | |
2 | g.219418706T>C | CA350684394 | DES | c.244T>C (p.Ser82Pro) | ClinVar |
2 | g.219418706T>G | CA350684401 | DES | c.244T>G (p.Ser82Ala) | |
2 | g.219418707_219418708insATC | CA2535102168 | DES | c.245_246insATC (p.Ser82_Tyr83insSer) | |
2 | g.219418707C>A | CA350684416 | DES | c.245C>A (p.Ser82Tyr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418707C= | CA1329209948 | DES | c.245C= (p.Ser82=) | |
2 | g.219418707C>G | CA350684433 | DES | c.245C>G (p.Ser82Cys) | |
2 | g.219418707C>T | CA350684436 | DES | c.245C>T (p.Ser82Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418708C>A | CA431427853 | DES | c.246C>A (p.Ser82=) | |
2 | g.219418708C>G | CA431427854 | DES | c.246C>G (p.Ser82=) | ClinVar |
2 | g.219418708C>T | CA431427855 | DES | c.246C>T (p.Ser82=) | ClinVar |
2 | g.219418709T>A | CA350684453 | DES | c.247T>A (p.Tyr83Asn) | gnomAD v4 |
2 | g.219418709T>C | CA350684448 | DES | c.247T>C (p.Tyr83His) | ClinVar dbSNP |
2 | g.219418709T>G | CA350684451 | DES | c.247T>G (p.Tyr83Asp) | |
2 | g.219418709T= | CA1329209949 | DES | c.247T= (p.Tyr83=) | |
2 | g.219418710del | CA2663249670 | DES | c.248del (p.Tyr83SerfsTer15) | gnomAD v4 |
2 | g.219418710A>C | CA350684456 | DES | c.248A>C (p.Tyr83Ser) | |
2 | g.219418710A>G | CA350684458 | DES | c.248A>G (p.Tyr83Cys) | |
2 | g.219418710A>T | CA350684467 | DES | c.248A>T (p.Tyr83Phe) | |
2 | g.219418711C>A | CA350684471 | DES | c.249C>A (p.Tyr83Ter) | ClinVar |
2 | g.219418711C>G | CA350684475 | DES | c.249C>G (p.Tyr83Ter) | |
2 | g.219418711C>T | CA431427859 | DES | c.249C>T (p.Tyr83=) | ClinVar dbSNP gnomAD v4 |
2 | g.219418712G>A | CA175620 | DES | c.250G>A (p.Gly84Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418712G>C | CA350684487 | DES | c.250G>C (p.Gly84Arg) | |
2 | g.219418712G= | CA1329209950 | DES | c.250G= (p.Gly84=) | |
2 | g.219418712G>T | CA350684477 | DES | c.250G>T (p.Gly84Cys) | |
2 | g.219418713G>A | CA350684494 | DES | c.251G>A (p.Gly84Asp) | |
2 | g.219418713G>C | CA350684499 | DES | c.251G>C (p.Gly84Ala) | gnomAD v4 |
2 | g.219418713G>T | CA350684502 | DES | c.251G>T (p.Gly84Val) | |
2 | g.219418714C>A | CA431427869 | DES | c.252C>A (p.Gly84=) | |
2 | g.219418714C= | CA1329209951 | DES | c.252C= (p.Gly84=) | |
2 | g.219418714C>G | CA431427870 | DES | c.252C>G (p.Gly84=) | |
2 | g.219418714C>T | CA431427871 | DES | c.252C>T (p.Gly84=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418715G>A | CA350684521 | DES | c.253G>A (p.Ala85Thr) | ClinVar gnomAD v4 |
2 | g.219418715G>C | CA350684522 | DES | c.253G>C (p.Ala85Pro) | |
2 | g.219418715G>T | CA350684524 | DES | c.253G>T (p.Ala85Ser) | dbSNP gnomAD v4 |
2 | g.219418716C>A | CA350684535 | DES | c.254C>A (p.Ala85Glu) | gnomAD v4 |
2 | g.219418716C= | CA1329209952 | DES | c.254C= (p.Ala85=) | |
2 | g.219418716C>G | CA350684540 | DES | c.254C>G (p.Ala85Gly) | |
2 | g.219418716C>T | CA350684549 | DES | c.254C>T (p.Ala85Val) | ClinVar dbSNP |
2 | g.219418716_219418717insT | CA764964187 | DES | c.254_255insT (p.Gly86ArgfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418717A>C | CA431427880 | DES | c.255A>C (p.Ala85=) | |
2 | g.219418717A>G | CA431427882 | DES | c.255A>G (p.Ala85=) | dbSNP gnomAD v4 |
2 | g.219418717A>T | CA431427881 | DES | c.255A>T (p.Ala85=) | |
2 | g.219418718G>A | CA350684553 | DES | c.256G>A (p.Gly86Ser) | |
2 | g.219418718G>C | CA350684556 | DES | c.256G>C (p.Gly86Arg) | gnomAD v4 |
2 | g.219418718G>T | CA350684559 | DES | c.256G>T (p.Gly86Cys) | gnomAD v4 |
2 | g.219418719G>A | CA350684560 | DES | c.257G>A (p.Gly86Asp) | gnomAD v4 |
2 | g.219418719G>C | CA350684566 | DES | c.257G>C (p.Gly86Ala) | |
2 | g.219418719G>T | CA350684563 | DES | c.257G>T (p.Gly86Val) | |
2 | g.219418720C>A | CA431427888 | DES | c.258C>A (p.Gly86=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418720C= | CA1329209953 | DES | c.258C= (p.Gly86=) | |
2 | g.219418720C>G | CA16604126 | DES | c.258C>G (p.Gly86=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418720C>T | CA431427889 | DES | c.258C>T (p.Gly86=) | ClinVar dbSNP gnomAD v4 |
2 | g.219418721G>A | CA350684571 | DES | c.259G>A (p.Glu87Lys) | gnomAD v4 COSMIC |
2 | g.219418721G>C | CA350684574 | DES | c.259G>C (p.Glu87Gln) | |
2 | g.219418721G= | CA1329209954 | DES | c.259G= (p.Glu87=) | |
2 | g.219418721G>T | CA2125047 | DES | c.259G>T (p.Glu87Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418721_219418722insTAGG | CA2663249702 | DES | c.259_260insTAGG (p.Glu87ValfsTer?) | gnomAD v4 |
2 | g.219418722A>C | CA350684592 | DES | c.260A>C (p.Glu87Ala) | |
2 | g.219418722A>G | CA350684600 | DES | c.260A>G (p.Glu87Gly) | gnomAD v4 |
2 | g.219418722A>T | CA350684604 | DES | c.260A>T (p.Glu87Val) | |
2 | g.219418723G>A | CA2125048 | DES | c.261G>A (p.Glu87=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418723G>C | CA350684610 | DES | c.261G>C (p.Glu87Asp) | |
2 | g.219418723G= | CA1329209955 | DES | c.261G= (p.Glu87=) | |
2 | g.219418723G>T | CA350684616 | DES | c.261G>T (p.Glu87Asp) | ClinVar gnomAD v4 |
2 | g.219418724C>A | CA350684622 | DES | c.262C>A (p.Leu88Met) | gnomAD v4 |
2 | g.219418724C>G | CA350684629 | DES | c.262C>G (p.Leu88Val) | |
2 | g.219418724C>T | CA431427896 | DES | c.262C>T (p.Leu88=) | |
2 | g.219418724_219418725delinsAG | CA645372707 | DES | c.262_263delinsAG (p.Leu88Arg) | ClinVar |
2 | g.219418725T>A | CA350684647 | DES | c.263T>A (p.Leu88Gln) | |
2 | g.219418725T>C | CA2125049 | DES | c.263T>C (p.Leu88Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418725T>G | CA350684632 | DES | c.263T>G (p.Leu88Arg) | gnomAD v4 |
2 | g.219418725T= | CA1329209956 | DES | c.263T= (p.Leu88=) | |
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=) |