Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.219418499_219419548del | CA1139655693 | DES | c.37_578+508del c.37_495+591del | ClinVar |
2 | g.219418673_219418687dup | CA2506678581 | DES | c.211_225dup (p.Gly75_Thr76insAlaSerArgLeuGly) | gnomAD v4 |
2 | g.219418674C>A | CA350683950 | DES | c.212C>A (p.Ala71Asp) | gnomAD v4 |
2 | g.219418674C= | CA1329209927 | DES | c.212C= (p.Ala71=) | |
2 | g.219418674C>G | CA350683954 | DES | c.212C>G (p.Ala71Gly) | dbSNP gnomAD v4 |
2 | g.219418674C>T | CA068076 | DES | c.212C>T (p.Ala71Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418675C>A | CA431427739 | DES | c.213C>A (p.Ala71=) | |
2 | g.219418675C>G | CA431427737 | DES | c.213C>G (p.Ala71=) | |
2 | g.219418675C>T | CA431427738 | DES | c.213C>T (p.Ala71=) | ClinVar gnomAD v4 |
2 | g.219418676A>C | CA350683968 | DES | c.214A>C (p.Ser72Arg) | |
2 | g.219418676A>G | CA350683960 | DES | c.214A>G (p.Ser72Gly) | gnomAD v4 |
2 | g.219418676A>T | CA350683965 | DES | c.214A>T (p.Ser72Cys) | |
2 | g.219418677G>A | CA350683982 | DES | c.215G>A (p.Ser72Asn) | gnomAD v4 |
2 | g.219418677G>C | CA350683999 | DES | c.215G>C (p.Ser72Thr) | |
2 | g.219418677G>T | CA350684003 | DES | c.215G>T (p.Ser72Ile) | gnomAD v4 |
2 | g.219418678C>A | CA238726 | DES | c.216C>A (p.Ser72Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418678C= | CA1329209928 | DES | c.216C= (p.Ser72=) | |
2 | g.219418678C>G | CA350684020 | DES | c.216C>G (p.Ser72Arg) | |
2 | g.219418678C>T | CA431427748 | DES | c.216C>T (p.Ser72=) | gnomAD v4 |
2 | g.219418679C>A | CA431427754 | DES | c.217C>A (p.Arg73=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418679C= | CA1329209929 | DES | c.217C= (p.Arg73=) | |
2 | g.219418679C>G | CA350684039 | DES | c.217C>G (p.Arg73Gly) | |
2 | g.219418679C>T | CA350684042 | DES | c.217C>T (p.Arg73Trp) | dbSNP gnomAD v4 |
2 | g.219418680G>A | CA2125038 | DES | c.218G>A (p.Arg73Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418680G>C | CA350684064 | DES | c.218G>C (p.Arg73Pro) | |
2 | g.219418680G= | CA1329209930 | DES | c.218G= (p.Arg73=) | |
2 | g.219418680G>T | CA10581946 | DES | c.218G>T (p.Arg73Leu) | ClinVar dbSNP |
2 | g.219418681G>A | CA431427764 | DES | c.219G>A (p.Arg73=) | ClinVar gnomAD v4 |
2 | g.219418681G>C | CA431427766 | DES | c.219G>C (p.Arg73=) | |
2 | g.219418681G>T | CA431427767 | DES | c.219G>T (p.Arg73=) | gnomAD v4 |
2 | g.219418682C>A | CA350684067 | DES | c.220C>A (p.Leu74Met) | gnomAD v4 |
2 | g.219418682C>G | CA350684069 | DES | c.220C>G (p.Leu74Val) | |
2 | g.219418682C>T | CA431427770 | DES | c.220C>T (p.Leu74=) | |
2 | g.219418683T>A | CA350684075 | DES | c.221T>A (p.Leu74Gln) | ClinVar dbSNP gnomAD v4 |
2 | g.219418683T>C | CA350684097 | DES | c.221T>C (p.Leu74Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418683T>G | CA350684086 | DES | c.221T>G (p.Leu74Arg) | |
2 | g.219418683T= | CA1329209931 | DES | c.221T= (p.Leu74=) | |
2 | g.219418684G>A | CA431427772 | DES | c.222G>A (p.Leu74=) | gnomAD v4 |
2 | g.219418684G>C | CA431427773 | DES | c.222G>C (p.Leu74=) | |
2 | g.219418684G>T | CA431427775 | DES | c.222G>T (p.Leu74=) | gnomAD v4 |
2 | g.219418685G>A | CA350684110 | DES | c.223G>A (p.Gly75Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418685G>C | CA350684114 | DES | c.223G>C (p.Gly75Arg) | |
2 | g.219418685G= | CA1329209932 | DES | c.223G= (p.Gly75=) | |
2 | g.219418685G>T | CA350684119 | DES | c.223G>T (p.Gly75Trp) | gnomAD v4 |
2 | g.219418686G>A | CA2125039 | DES | c.224G>A (p.Gly75Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418686G>C | CA350684134 | DES | c.224G>C (p.Gly75Ala) | |
2 | g.219418686G= | CA1329209933 | DES | c.224G= (p.Gly75=) | |
2 | g.219418686G>T | CA350684139 | DES | c.224G>T (p.Gly75Val) | gnomAD v4 |
2 | g.219418687G>A | CA2125041 | DES | c.225G>A (p.Gly75=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418687G>C | CA2125040 | DES | c.225G>C (p.Gly75=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418687G= | CA1329209934 | DES | c.225G= (p.Gly75=) | |
2 | g.219418687G>T | CA431427787 | DES | c.225G>T (p.Gly75=) | gnomAD v4 |
2 | g.219418687_219418688delinsGA | CA1329209935 | DES | c.225_226delinsGA (p.Gly75=) | |
2 | g.219418688del | CA16616730 | DES | c.226del (p.Thr76ProfsTer22) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418688A>C | CA350684141 | DES | c.226A>C (p.Thr76Pro) | |
2 | g.219418688A>G | CA350684146 | DES | c.226A>G (p.Thr76Ala) | |
2 | g.219418688A>T | CA350684152 | DES | c.226A>T (p.Thr76Ser) | dbSNP |
2 | g.219418691_219418693del | CA2513286435 | DES | c.229_231del (p.Thr77del) | ClinVar |
2 | g.219418689C>A | CA350684175 | DES | c.227C>A (p.Thr76Asn) | gnomAD v4 |
2 | g.219418689C= | CA1329209936 | DES | c.227C= (p.Thr76=) | |
2 | g.219418689C>G | CA350684172 | DES | c.227C>G (p.Thr76Ser) | |
2 | g.219418689C>T | CA2125042 | DES | c.227C>T (p.Thr76Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418690del | CA2663249560 | DES | c.228del (p.Thr77ProfsTer21) | gnomAD v4 |
2 | g.219418690C>A | CA431427799 | DES | c.228C>A (p.Thr76=) | gnomAD v4 |
2 | g.219418690C= | CA1329209937 | DES | c.228C= (p.Thr76=) | |
2 | g.219418690C>G | CA2125043 | DES | c.228C>G (p.Thr76=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418690C>T | CA2125044 | DES | c.228C>T (p.Thr76=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418691A= | CA1329209939 | DES | c.229A= (p.Thr77=) | |
2 | g.219418691A>C | CA350684212 | DES | c.229A>C (p.Thr77Pro) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418691A>G | CA2125045 | DES | c.229A>G (p.Thr77Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418691A>T | CA350684219 | DES | c.229A>T (p.Thr77Ser) | |
2 | g.219418691_219418693delinsACC | CA1329209938 | DES | c.229_231delinsACC (p.Thr77=) | |
2 | g.219418692C>A | CA350684228 | DES | c.230C>A (p.Thr77Asn) | gnomAD v4 |
2 | g.219418692C= | CA1329209941 | DES | c.230C= (p.Thr77=) | |
2 | g.219418692C>G | CA350684239 | DES | c.230C>G (p.Thr77Ser) | |
2 | g.219418692C>T | CA350684245 | DES | c.230C>T (p.Thr77Ile) | ClinVar dbSNP gnomAD v4 |
2 | g.219418693_219418694del | CA1329209940 | DES | c.231_232del (p.Arg78HisfsTer?) | dbSNP |
2 | g.219418693C>A | CA431427809 | DES | c.231C>A (p.Thr77=) | ClinVar gnomAD v4 |
2 | g.219418693C>G | CA431427811 | DES | c.231C>G (p.Thr77=) | |
2 | g.219418693C>T | CA431427812 | DES | c.231C>T (p.Thr77=) | gnomAD v4 |
2 | g.219418694C>A | CA350684254 | DES | c.232C>A (p.Arg78Ser) | gnomAD v4 |
2 | g.219418694C= | CA1329209942 | DES | c.232C= (p.Arg78=) | |
2 | g.219418694C>G | CA350684261 | DES | c.232C>G (p.Arg78Gly) | gnomAD v4 |
2 | g.219418694C>T | CA350684263 | DES | c.232C>T (p.Arg78Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418695G>A | CA350684270 | DES | c.233G>A (p.Arg78His) | gnomAD v4 |
2 | g.219418695G>C | CA350684278 | DES | c.233G>C (p.Arg78Pro) | |
2 | g.219418695G= | CA1329209943 | DES | c.233G= (p.Arg78=) | |
2 | g.219418695G>T | CA308301 | DES | c.233G>T (p.Arg78Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418696C>A | CA431427818 | DES | c.234C>A (p.Arg78=) | gnomAD v4 |
2 | g.219418696C>G | CA431427819 | DES | c.234C>G (p.Arg78=) | |
2 | g.219418696C>T | CA431427822 | DES | c.234C>T (p.Arg78=) | |
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 |