Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.6145569C=CA1607949779F13A1c.*50G= (n.*50G=)
6g.6145569C>TCA565087592F13A1c.*50G>A (n.*50G>A)
dbSNP gnomAD v2 gnomAD v4
6g.6145569_6145570delinsCACA1607949780F13A1c.*49_*50delinsTG (n.*49_*50delinsTG)
6g.6145571delCA1607949781F13A1c.*49del (n.*49del)
dbSNP
6g.6145571A=CA1607949782F13A1c.*48T= (n.*48T=)
6g.6145571A>GCA3624108F13A1c.*48T>C (n.*48T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.6145573A>CCA2677189723F13A1c.*46T>G (n.*46T>G)
gnomAD v4
6g.6145574C=CA1607949783F13A1c.*45G= (n.*45G=)
6g.6145574C>TCA1607949784F13A1c.*45G>A (n.*45G>A)
dbSNP
6g.6145575T>GCA2677189724F13A1c.*44A>C (n.*44A>C)
gnomAD v4
6g.6145577C=CA1607949785F13A1c.*42G= (n.*42G=)
6g.6145577C>GCA2677189726F13A1c.*42G>C (n.*42G>C)
gnomAD v4
6g.6145577C>TCA10627343F13A1c.*42G>A (n.*42G>A)
ClinVar dbSNP gnomAD v4
6g.6145578A>GCA2677189730F13A1c.*41T>C (n.*41T>C)
gnomAD v4
6g.6145580G>CCA3624109F13A1c.*39C>G (n.*39C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.6145580G=CA1607949786F13A1c.*39C= (n.*39C=)
6g.6145582G>ACA1085596392F13A1c.*37C>T (n.*37C>T)
dbSNP gnomAD v3 gnomAD v4
6g.6145582G=CA1607949787F13A1c.*37C= (n.*37C=)
6g.6145583G=CA1607949788F13A1c.*36C= (n.*36C=)
6g.6145583G>TCA133891989F13A1c.*36C>A (n.*36C>A)
dbSNP
6g.6145584C>ACA3624110F13A1c.*35G>T (n.*35G>T)
dbSNP ExAC gnomAD v2
6g.6145584C=CA1607949789F13A1c.*35G= (n.*35G=)
6g.6145585C=CA1607949790F13A1c.*34G= (n.*34G=)
6g.6145585C>TCA3624111F13A1c.*34G>A (n.*34G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6145586A=CA1607949791F13A1c.*33T= (n.*33T=)
6g.6145586A>CCA565087594F13A1c.*33T>G (n.*33T>G)
dbSNP gnomAD v2 gnomAD v4
6g.6145586_6145587insTCA650470730F13A1c.*32_*33insA (n.*32_*33insA)
COSMIC
6g.6145587A=CA1607949792F13A1c.*32T= (n.*32T=)
6g.6145587A>GCA3624112F13A1c.*32T>C (n.*32T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.6145588A=CA1607949793F13A1c.*31T= (n.*31T=)
6g.6145588A>CCA3624113F13A1c.*31T>G (n.*31T>G)
dbSNP ExAC gnomAD v4
6g.6145590_6145601delCA2677189737F13A1c.*20_*31del (n.*20_*31del)
gnomAD v4
6g.6145590G>CCA565087595F13A1c.*29C>G (n.*29C>G)
dbSNP gnomAD v2 gnomAD v4
6g.6145590G=CA1607949794F13A1c.*29C= (n.*29C=)
6g.6145595G>ACA1607949796F13A1c.*24C>T (n.*24C>T)
dbSNP gnomAD v4
6g.6145595G>CCA1607949797F13A1c.*24C>G (n.*24C>G)
dbSNP
6g.6145595G=CA1607949795F13A1c.*24C= (n.*24C=)
6g.6145596G>ACA2710739651F13A1c.*23C>T (n.*23C>T)
dbSNP
6g.6145596G=CA1607949798F13A1c.*23C= (n.*23C=)
6g.6145596G>TCA3624114F13A1c.*23C>A (n.*23C>A)
dbSNP ExAC gnomAD v2
6g.6145599C>ACA2570961924F13A1c.*20G>T (n.*20G>T)
6g.6145600A=CA1607949799F13A1c.*19T= (n.*19T=)
6g.6145600A>CCA826658083F13A1c.*19T>G (n.*19T>G)
dbSNP gnomAD v4
6g.6145600A>GCA3624115F13A1c.*19T>C (n.*19T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.6145600A>TCA2677189743F13A1c.*19T>A (n.*19T>A)
gnomAD v4
6g.6145601_6145602delinsTCCA1607949800F13A1c.*17_*18delinsGA (n.*17_*18delinsGA)
6g.6145602delCA1607949801F13A1c.*17del (n.*17del)
dbSNP
6g.6145603T>GCA2677189747F13A1c.*16A>C (n.*16A>C)
gnomAD v4
6g.6145604C>ACA565087597F13A1c.*15G>T (n.*15G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.6145604C=CA1607949802F13A1c.*15G= (n.*15G=)
6g.6145605A=CA1607949803F13A1c.*14T= (n.*14T=)
6g.6145605A>GCA1607949804F13A1c.*14T>C (n.*14T>C)
dbSNP
6g.6145606G>ACA2711109467F13A1c.*13C>T (n.*13C>T)
dbSNP
6g.6145607C>ACA826658094F13A1c.*12G>T (n.*12G>T)
dbSNP gnomAD v3 gnomAD v4
6g.6145607C=CA1607949805F13A1c.*12G= (n.*12G=)
6g.6145607C>TCA565087598F13A1c.*12G>A (n.*12G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.6145607dupCA2677189748F13A1c.*12dup (n.*12dup)
gnomAD v4
6g.6145608T>CCA2711109569F13A1c.*11A>G (n.*11A>G)
dbSNP
6g.6145611C=CA1607949806F13A1c.*8G= (n.*8G=)
6g.6145611C>TCA3624116F13A1c.*8G>A (n.*8G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6145612T>CCA565087601F13A1c.*7A>G (n.*7A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.6145612T=CA1607949807F13A1c.*7A= (n.*7A=)
6g.6145613G>CCA2769867645F13A1c.*6C>G (n.*6C>G)
6g.6145613G>TCA2677189751F13A1c.*6C>A (n.*6C>A)
gnomAD v4
6g.6145614T>CCA2769867646F13A1c.*5A>G (n.*5A>G)
6g.6145614T>GCA3624117F13A1c.*5A>C (n.*5A>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6145614T=CA1607949808F13A1c.*5A= (n.*5A=)
6g.6145615G>ACA2524812223F13A1c.*4C>T (n.*4C>T)
6g.6145616C>ACA2578639493F13A1c.*3G>T (n.*3G>T)
6g.6145616C>TCA2507248307F13A1c.*3G>A (n.*3G>A)
6g.6145617A>GCA2677189753F13A1c.*2T>C (n.*2T>C)
gnomAD v4
6g.6145619T>ACA362655812F13A1c.2199A>T (p.Ter733Cys)
c.2361A>T (p.Ter787Cys)
6g.6145619T>CCA362655813F13A1c.2199A>G (p.Ter733Trp)
c.2361A>G (p.Ter787Trp)
6g.6145619T>GCA362655814F13A1c.2199A>C (p.Ter733Cys)
c.2361A>C (p.Ter787Cys)
6g.6145620C>ACA362655815F13A1c.2198G>T (p.Ter733Leu)
c.2360G>T (p.Ter787Leu)
6g.6145620C=CA1607949809F13A1c.2198G= (p.Ter733=)
c.2360G= (p.Ter787=)
6g.6145620C>GCA362655816F13A1c.2198G>C (p.Ter733Ser)
c.2360G>C (p.Ter787Ser)
6g.6145620C>TCA448498439F13A1c.2198G>A (p.Ter733=)
c.2360G>A (p.Ter787=)
dbSNP gnomAD v3 gnomAD v4
6g.6145621A>CCA362655817F13A1c.2197T>G (p.Ter733Gly)
c.2359T>G (p.Ter787Gly)
6g.6145621A>GCA362655818F13A1c.2197T>C (p.Ter733Arg)
c.2359T>C (p.Ter787Arg)
gnomAD v4
6g.6145621A>TCA362655819F13A1c.2197T>A (p.Ter733Arg)
c.2359T>A (p.Ter787Arg)
6g.6145622C>ACA362655820F13A1c.2196G>T (p.Met732Ile)
c.2358G>T (p.Met786Ile)
6g.6145622C=CA1607949810F13A1c.2196G= (p.Met732=)
c.2358G= (p.Met786=)
6g.6145622C>GCA362655821F13A1c.2196G>C (p.Met732Ile)
c.2358G>C (p.Met786Ile)
6g.6145622C>TCA362655822F13A1c.2196G>A (p.Met732Ile)
c.2358G>A (p.Met786Ile)
dbSNP gnomAD v2
6g.6145623A=CA1607949811F13A1c.2195T= (p.Met732=)
c.2357T= (p.Met786=)
6g.6145623A>CCA362655824F13A1c.2195T>G (p.Met732Arg)
c.2357T>G (p.Met786Arg)
6g.6145623A>GCA362655823F13A1c.2195T>C (p.Met732Thr)
c.2357T>C (p.Met786Thr)
6g.6145623A>TCA3624118F13A1c.2195T>A (p.Met732Lys)
c.2357T>A (p.Met786Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6145624T>ACA362655825F13A1c.2194A>T (p.Met732Leu)
c.2356A>T (p.Met786Leu)
6g.6145624T>CCA362655826F13A1c.2194A>G (p.Met732Val)
c.2356A>G (p.Met786Val)
6g.6145624T>GCA362655827F13A1c.2194A>C (p.Met732Leu)
c.2356A>C (p.Met786Leu)
6g.6145625G>ACA448498442F13A1c.2193C>T (p.Ser731=)
c.2355C>T (p.Ser785=)
6g.6145625G>CCA448498443F13A1c.2193C>G (p.Ser731=)
c.2355C>G (p.Ser785=)
6g.6145625G>TCA448498444F13A1c.2193C>A (p.Ser731=)
c.2355C>A (p.Ser785=)
6g.6145626G>ACA362655828F13A1c.2192C>T (p.Ser731Phe)
c.2354C>T (p.Ser785Phe)
6g.6145626G>CCA362655829F13A1c.2192C>G (p.Ser731Cys)
c.2354C>G (p.Ser785Cys)
6g.6145626G>TCA362655830F13A1c.2192C>A (p.Ser731Tyr)
c.2354C>A (p.Ser785Tyr)
6g.6145627A>CCA362655831F13A1c.2191T>G (p.Ser731Ala)
c.2353T>G (p.Ser785Ala)
6g.6145627A>GCA362655832F13A1c.2191T>C (p.Ser731Pro)
c.2353T>C (p.Ser785Pro)
gnomAD v4
6g.6145627A>TCA362655833F13A1c.2191T>A (p.Ser731Thr)
c.2353T>A (p.Ser785Thr)
6g.6145628A=CA1607949812F13A1c.2190T= (p.Pro730=)
c.2352T= (p.Pro784=)
6g.6145628A>CCA448498450F13A1c.2190T>G (p.Pro730=)
c.2352T>G (p.Pro784=)
gnomAD v4
6g.6145628A>GCA448498449F13A1c.2190T>C (p.Pro730=)
c.2352T>C (p.Pro784=)
gnomAD v4
6g.6145628A>TCA448498448F13A1c.2190T>A (p.Pro730=)
c.2352T>A (p.Pro784=)
6g.6145629G>ACA362655834F13A1c.2189C>T (p.Pro730Leu)
c.2351C>T (p.Pro784Leu)
6g.6145629G>CCA362655835F13A1c.2189C>G (p.Pro730Arg)
c.2351C>G (p.Pro784Arg)
6g.6145629G>TCA362655836F13A1c.2189C>A (p.Pro730His)
c.2351C>A (p.Pro784His)
6g.6145629_6145631dupCA1607949813F13A1c.2187_2189dup (p.Pro730_Ser731insPro)
c.2349_2351dup (p.Pro784_Ser785insPro)
dbSNP
6g.6145630G>ACA133892034F13A1c.2188C>T (p.Pro730Ser)
c.2350C>T (p.Pro784Ser)
dbSNP gnomAD v3 gnomAD v4
6g.6145630G>CCA3624119F13A1c.2188C>G (p.Pro730Ala)
c.2350C>G (p.Pro784Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6145630G=CA1607949814F13A1c.2188C= (p.Pro730=)
c.2350C= (p.Pro784=)
6g.6145630G>TCA362655837F13A1c.2188C>A (p.Pro730Thr)
c.2350C>A (p.Pro784Thr)
6g.6145631T>ACA448498452F13A1c.2187A>T (p.Arg729=)
c.2349A>T (p.Arg783=)
6g.6145631T>CCA448498453F13A1c.2187A>G (p.Arg729=)
c.2349A>G (p.Arg783=)
6g.6145631T>GCA448498454F13A1c.2187A>C (p.Arg729=)
c.2349A>C (p.Arg783=)
6g.6145632C>ACA362655838F13A1c.2186G>T (p.Arg729Leu)
c.2348G>T (p.Arg783Leu)
6g.6145632C=CA1607949815F13A1c.2186G= (p.Arg729=)
c.2348G= (p.Arg783=)
6g.6145632C>GCA362655839F13A1c.2186G>C (p.Arg729Pro)
c.2348G>C (p.Arg783Pro)
6g.6145632C>TCA3624120F13A1c.2186G>A (p.Arg729Gln)
c.2348G>A (p.Arg783Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.6145633G>ACA3624121F13A1c.2185C>T (p.Arg729Ter)
c.2347C>T (p.Arg783Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6145633G>CCA362655840F13A1c.2185C>G (p.Arg729Gly)
c.2347C>G (p.Arg783Gly)
6g.6145633G=CA1607949816F13A1c.2185C= (p.Arg729=)
c.2347C= (p.Arg783=)
6g.6145633G>TCA448498456F13A1c.2185C>A (p.Arg729=)
c.2347C>A (p.Arg783=)
6g.6145634T>ACA362655841F13A1c.2184A>T (p.Arg728Ser)
c.2346A>T (p.Arg782Ser)
6g.6145634T>CCA3624122F13A1c.2184A>G (p.Arg728=)
c.2346A>G (p.Arg782=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.6145634T>GCA362655842F13A1c.2184A>C (p.Arg728Ser)
c.2346A>C (p.Arg782Ser)
6g.6145634T=CA1607949817F13A1c.2184A= (p.Arg728=)
c.2346A= (p.Arg782=)
6g.6145635C>ACA362655843F13A1c.2183G>T (p.Arg728Ile)
c.2345G>T (p.Arg782Ile)
6g.6145635C>GCA362655844F13A1c.2183G>C (p.Arg728Thr)
c.2345G>C (p.Arg782Thr)
6g.6145635C>TCA362655845F13A1c.2183G>A (p.Arg728Lys)
c.2345G>A (p.Arg782Lys)
COSMIC
6g.6145636T>ACA362655846F13A1c.2182A>T (p.Arg728Ter)
c.2344A>T (p.Arg782Ter)
6g.6145636T>CCA362655847F13A1c.2182A>G (p.Arg728Gly)
c.2344A>G (p.Arg782Gly)
6g.6145636T>GCA448498462F13A1c.2182A>C (p.Arg728=)
c.2344A>C (p.Arg782=)
6g.6145637T>ACA362655848F13A1c.2181A>T (p.Gln727His)
c.2343A>T (p.Gln781His)
6g.6145637T>CCA448498463F13A1c.2181A>G (p.Gln727=)
c.2343A>G (p.Gln781=)
6g.6145637T>GCA362655849F13A1c.2181A>C (p.Gln727His)
c.2343A>C (p.Gln781His)
6g.6145638T>ACA362655850F13A1c.2180A>T (p.Gln727Leu)
c.2342A>T (p.Gln781Leu)
6g.6145638T>CCA362655852F13A1c.2180A>G (p.Gln727Arg)
c.2342A>G (p.Gln781Arg)
6g.6145638T>GCA362655851F13A1c.2180A>C (p.Gln727Pro)
c.2342A>C (p.Gln781Pro)
6g.6145639G>ACA362655853F13A1c.2179C>T (p.Gln727Ter)
c.2341C>T (p.Gln781Ter)
6g.6145639G>CCA362655854F13A1c.2179C>G (p.Gln727Glu)
c.2341C>G (p.Gln781Glu)
dbSNP
6g.6145639G=CA1607949818F13A1c.2179C= (p.Gln727=)
c.2341C= (p.Gln781=)
6g.6145639G>TCA362655855F13A1c.2179C>A (p.Gln727Lys)
c.2341C>A (p.Gln781Lys)
6g.6145640A>CCA362655856F13A1c.2178T>G (p.Ile726Met)
c.2340T>G (p.Ile780Met)
6g.6145640A>GCA448498466F13A1c.2178T>C (p.Ile726=)
c.2340T>C (p.Ile780=)
gnomAD v4
6g.6145640A>TCA448498467F13A1c.2178T>A (p.Ile726=)
c.2340T>A (p.Ile780=)
6g.6145641A>CCA362655857F13A1c.2177T>G (p.Ile726Ser)
c.2339T>G (p.Ile780Ser)
6g.6145641A>GCA362655858F13A1c.2177T>C (p.Ile726Thr)
c.2339T>C (p.Ile780Thr)
6g.6145641A>TCA362655859F13A1c.2177T>A (p.Ile726Asn)
c.2339T>A (p.Ile780Asn)
6g.6145642T>ACA362655860F13A1c.2176A>T (p.Ile726Phe)
c.2338A>T (p.Ile780Phe)
dbSNP
6g.6145642T>CCA362655861F13A1c.2176A>G (p.Ile726Val)
c.2338A>G (p.Ile780Val)
gnomAD v4
6g.6145642T>GCA362655862F13A1c.2176A>C (p.Ile726Leu)
c.2338A>C (p.Ile780Leu)
6g.6145642T=CA1607949819F13A1c.2176A= (p.Ile726=)
c.2338A= (p.Ile780=)
6g.6145643C>ACA362655864F13A1c.2175G>T (p.Gln725His)
c.2337G>T (p.Gln779His)
dbSNP gnomAD v4
6g.6145643C>GCA362655863F13A1c.2175G>C (p.Gln725His)
c.2337G>C (p.Gln779His)
gnomAD v4
6g.6145643C>TCA448498471F13A1c.2175G>A (p.Gln725=)
c.2337G>A (p.Gln779=)
6g.6145644T>ACA362655865F13A1c.2174A>T (p.Gln725Leu)
c.2336A>T (p.Gln779Leu)
6g.6145644T>CCA362655866F13A1c.2174A>G (p.Gln725Arg)
c.2336A>G (p.Gln779Arg)
dbSNP gnomAD v3 gnomAD v4
6g.6145644T>GCA362655867F13A1c.2174A>C (p.Gln725Pro)
c.2336A>C (p.Gln779Pro)
6g.6145644T=CA1607949820F13A1c.2174A= (p.Gln725=)
c.2336A= (p.Gln779=)
6g.6145645G>ACA362655868F13A1c.2173C>T (p.Gln725Ter)
c.2335C>T (p.Gln779Ter)
gnomAD v4
6g.6145645G>CCA362655869F13A1c.2173C>G (p.Gln725Glu)
c.2335C>G (p.Gln779Glu)
6g.6145645G=CA1607949821F13A1c.2173C= (p.Gln725=)
c.2335C= (p.Gln779=)
6g.6145645G>TCA3624123F13A1c.2173C>A (p.Gln725Lys)
c.2335C>A (p.Gln779Lys)
dbSNP ExAC
6g.6145646C>ACA448498473F13A1c.2172G>T (p.Val724=)
c.2334G>T (p.Val778=)
6g.6145646C>GCA448498474F13A1c.2172G>C (p.Val724=)
c.2334G>C (p.Val778=)
6g.6145646C>TCA448498475F13A1c.2172G>A (p.Val724=)
c.2334G>A (p.Val778=)
gnomAD v4
6g.6145647A=CA1607949822F13A1c.2171T= (p.Val724=)
c.2333T= (p.Val778=)
6g.6145647A>CCA362655870F13A1c.2171T>G (p.Val724Gly)
c.2333T>G (p.Val778Gly)
6g.6145647A>GCA3624124F13A1c.2171T>C (p.Val724Ala)
c.2333T>C (p.Val778Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.6145647A>TCA362655871F13A1c.2171T>A (p.Val724Glu)
c.2333T>A (p.Val778Glu)
6g.6145648C>ACA362655872F13A1c.2170G>T (p.Val724Leu)
c.2332G>T (p.Val778Leu)
6g.6145648C=CA1607949823F13A1c.2170G= (p.Val724=)
c.2332G= (p.Val778=)
6g.6145648C>GCA362655873F13A1c.2170G>C (p.Val724Leu)
c.2332G>C (p.Val778Leu)
dbSNP gnomAD v2
6g.6145648C>TCA3624125F13A1c.2170G>A (p.Val724Met)
c.2332G>A (p.Val778Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6145649G>ACA3624126F13A1c.2169C>T (p.Asp723=)
c.2331C>T (p.Asp777=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6145649G>CCA362655875F13A1c.2169C>G (p.Asp723Glu)
c.2331C>G (p.Asp777Glu)
6g.6145649G=CA1607949824F13A1c.2169C= (p.Asp723=)
c.2331C= (p.Asp777=)
6g.6145649G>TCA362655874F13A1c.2169C>A (p.Asp723Glu)
c.2331C>A (p.Asp777Glu)
dbSNP
6g.6145650T>ACA362655876F13A1c.2168A>T (p.Asp723Val)
c.2330A>T (p.Asp777Val)
6g.6145650T>CCA362655877F13A1c.2168A>G (p.Asp723Gly)
c.2330A>G (p.Asp777Gly)
6g.6145650T>GCA362655878F13A1c.2168A>C (p.Asp723Ala)
c.2330A>C (p.Asp777Ala)
6g.6145651C>ACA362655879F13A1c.2167G>T (p.Asp723Tyr)
c.2329G>T (p.Asp777Tyr)
gnomAD v4
6g.6145651C>GCA362655880F13A1c.2167G>C (p.Asp723His)
c.2329G>C (p.Asp777His)
6g.6145651C>TCA362655881F13A1c.2167G>A (p.Asp723Asn)
c.2329G>A (p.Asp777Asn)
6g.6145652C>ACA448498481F13A1c.2166G>T (p.Leu722=)
c.2328G>T (p.Leu776=)
6g.6145652C>GCA448498482F13A1c.2166G>C (p.Leu722=)
c.2328G>C (p.Leu776=)
6g.6145652C>TCA448498484F13A1c.2166G>A (p.Leu722=)
c.2328G>A (p.Leu776=)
6g.6145653A>CCA362655882F13A1c.2165T>G (p.Leu722Arg)
c.2327T>G (p.Leu776Arg)
6g.6145653A>GCA362655884F13A1c.2165T>C (p.Leu722Pro)
c.2327T>C (p.Leu776Pro)
6g.6145653A>TCA362655883F13A1c.2165T>A (p.Leu722Gln)
c.2327T>A (p.Leu776Gln)
6g.6145654G>ACA448498487F13A1c.2164C>T (p.Leu722=)
c.2326C>T (p.Leu776=)
gnomAD v4
6g.6145654G>CCA362655885F13A1c.2164C>G (p.Leu722Val)
c.2326C>G (p.Leu776Val)
6g.6145654G>TCA362655886F13A1c.2164C>A (p.Leu722Met)
c.2326C>A (p.Leu776Met)
gnomAD v4
6g.6145655C>ACA362655887F13A1c.2163G>T (p.Glu721Asp)
c.2325G>T (p.Glu775Asp)
6g.6145655C>GCA362655888F13A1c.2163G>C (p.Glu721Asp)
c.2325G>C (p.Glu775Asp)
6g.6145655C>TCA448498490F13A1c.2163G>A (p.Glu721=)
c.2325G>A (p.Glu775=)
gnomAD v4
6g.6145656T>ACA362655891F13A1c.2162A>T (p.Glu721Val)
c.2324A>T (p.Glu775Val)
6g.6145656T>CCA362655890F13A1c.2162A>G (p.Glu721Gly)
c.2324A>G (p.Glu775Gly)
6g.6145656T>GCA362655889F13A1c.2162A>C (p.Glu721Ala)
c.2324A>C (p.Glu775Ala)
dbSNP gnomAD v3 gnomAD v4
6g.6145656T=CA1607949825F13A1c.2162A= (p.Glu721=)
c.2324A= (p.Glu775=)
6g.6145657C>ACA362655892F13A1c.2161G>T (p.Glu721Ter)
c.2323G>T (p.Glu775Ter)
6g.6145657C=CA1607949826F13A1c.2161G= (p.Glu721=)
c.2323G= (p.Glu775=)
6g.6145657C>GCA362655893F13A1c.2161G>C (p.Glu721Gln)
c.2323G>C (p.Glu775Gln)
6g.6145657C>TCA3624127F13A1c.2161G>A (p.Glu721Lys)
c.2323G>A (p.Glu775Lys)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.6145658G>ACA3624128F13A1c.2160C>T (p.Gly720=)
c.2322C>T (p.Gly774=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6145658G>CCA448498492F13A1c.2160C>G (p.Gly720=)
c.2322C>G (p.Gly774=)
6g.6145658G=CA1607949827F13A1c.2160C= (p.Gly720=)
c.2322C= (p.Gly774=)
6g.6145658G>TCA448498494F13A1c.2160C>A (p.Gly720=)
c.2322C>A (p.Gly774=)
dbSNP
6g.6145659C>ACA362655895F13A1c.2159G>T (p.Gly720Val)
c.2321G>T (p.Gly774Val)
6g.6145659C>GCA362655894F13A1c.2159G>C (p.Gly720Ala)
c.2321G>C (p.Gly774Ala)
6g.6145659C>TCA362655896F13A1c.2159G>A (p.Gly720Asp)
c.2321G>A (p.Gly774Asp)
6g.6145660C>ACA362655897F13A1c.2158G>T (p.Gly720Cys)
c.2320G>T (p.Gly774Cys)
6g.6145660C=CA1607949828F13A1c.2158G= (p.Gly720=)
c.2320G= (p.Gly774=)
6g.6145660C>GCA362655898F13A1c.2158G>C (p.Gly720Arg)
c.2320G>C (p.Gly774Arg)
6g.6145660C>TCA133892097F13A1c.2158G>A (p.Gly720Ser)
c.2320G>A (p.Gly774Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.6145661A=CA1607949829F13A1c.2157T= (p.Tyr719=)
c.2319T= (p.Tyr773=)
6g.6145661A>CCA362655899F13A1c.2157T>G (p.Tyr719Ter)
c.2319T>G (p.Tyr773Ter)
6g.6145661A>GCA448498498F13A1c.2157T>C (p.Tyr719=)
c.2319T>C (p.Tyr773=)
dbSNP gnomAD v3 gnomAD v4
6g.6145661A>TCA362655900F13A1c.2157T>A (p.Tyr719Ter)
c.2319T>A (p.Tyr773Ter)
6g.6145662T>ACA362655903F13A1c.2156A>T (p.Tyr719Phe)
c.2318A>T (p.Tyr773Phe)
6g.6145662T>CCA362655902F13A1c.2156A>G (p.Tyr719Cys)
c.2318A>G (p.Tyr773Cys)
dbSNP gnomAD v4
6g.6145662T>GCA362655901F13A1c.2156A>C (p.Tyr719Ser)
c.2318A>C (p.Tyr773Ser)
6g.6145662T=CA1607949830F13A1c.2156A= (p.Tyr719=)
c.2318A= (p.Tyr773=)
6g.6145663A=CA1607949831F13A1c.2155T= (p.Tyr719=)
c.2317T= (p.Tyr773=)
6g.6145663A>CCA362655904F13A1c.2155T>G (p.Tyr719Asp)
c.2317T>G (p.Tyr773Asp)
6g.6145663A>GCA362655905F13A1c.2155T>C (p.Tyr719His)
c.2317T>C (p.Tyr773His)
dbSNP
6g.6145663A>TCA362655906F13A1c.2155T>A (p.Tyr719Asn)
c.2317T>A (p.Tyr773Asn)
6g.6145664C>ACA448498499F13A1c.2154G>T (p.Val718=)
c.2316G>T (p.Val772=)
6g.6145664C>GCA448498501F13A1c.2154G>C (p.Val718=)
c.2316G>C (p.Val772=)
6g.6145664C>TCA448498503F13A1c.2154G>A (p.Val718=)
c.2316G>A (p.Val772=)
6g.6145665A=CA1607949832F13A1c.2153T= (p.Val718=)
c.2315T= (p.Val772=)
6g.6145665A>CCA362655907F13A1c.2153T>G (p.Val718Gly)
c.2315T>G (p.Val772Gly)
6g.6145665A>GCA3624129F13A1c.2153T>C (p.Val718Ala)
c.2315T>C (p.Val772Ala)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.6145665A>TCA362655908F13A1c.2153T>A (p.Val718Glu)
c.2315T>A (p.Val772Glu)
gnomAD v4
6g.6145666C>ACA362655911F13A1c.2152G>T (p.Val718Leu)
c.2314G>T (p.Val772Leu)
gnomAD v4
6g.6145666C>GCA362655909F13A1c.2152G>C (p.Val718Leu)
c.2314G>C (p.Val772Leu)
6g.6145666C>TCA362655910F13A1c.2152G>A (p.Val718Met)
c.2314G>A (p.Val772Met)
6g.6145666_6145668delinsCATCA1607949833F13A1c.2150_2152delinsATG (p.His717=)
c.2312_2314delinsATG (p.His771=)
6g.6145667A=CA1607949834F13A1c.2151T= (p.His717=)
c.2313T= (p.His771=)
6g.6145667A>CCA362655912F13A1c.2151T>G (p.His717Gln)
c.2313T>G (p.His771Gln)
6g.6145667A>GCA3624131F13A1c.2151T>C (p.His717=)
c.2313T>C (p.His771=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6145667A>TCA362655913F13A1c.2151T>A (p.His717Gln)
c.2313T>A (p.His771Gln)
6g.6145667_6145668delCA3624130F13A1c.2150_2151del (p.His717ArgfsTer?)
c.2312_2313del (p.His771ArgfsTer?)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.6145668T>ACA362655914F13A1c.2150A>T (p.His717Leu)
c.2312A>T (p.His771Leu)
6g.6145668T>CCA362655915F13A1c.2150A>G (p.His717Arg)
c.2312A>G (p.His771Arg)
ClinVar gnomAD v4
6g.6145668T>GCA362655916F13A1c.2150A>C (p.His717Pro)
c.2312A>C (p.His771Pro)
6g.6145669G>ACA362655917F13A1c.2149C>T (p.His717Tyr)
c.2311C>T (p.His771Tyr)
6g.6145669G>CCA362655918F13A1c.2149C>G (p.His717Asp)
c.2311C>G (p.His771Asp)
6g.6145669G>TCA362655919F13A1c.2149C>A (p.His717Asn)
c.2311C>A (p.His771Asn)
gnomAD v4

Number of alleles fetched