Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.32089178C>ACA2678098756TNXBc.2515+45G>T (n.2515+45G>T)
c.2371+45G>T (n.2371+45G>T)
 gnomAD v4
6g.32089178C=CA1619419631TNXBc.2515+45G= (n.2515+45G=)
c.2371+45G= (n.2371+45G=)
6g.32089178C>GCA2678098755TNXBc.2515+45G>C (n.2515+45G>C)
c.2371+45G>C (n.2371+45G>C)
 gnomAD v4
6g.32089178C>TCA1619419632TNXBc.2515+45G>A (n.2515+45G>A)
c.2371+45G>A (n.2371+45G>A)
 dbSNP gnomAD v4
6g.32089180G=CA1619419633TNXBc.2515+43C= (n.2515+43C=)
c.2371+43C= (n.2371+43C=)
6g.32089180G>TCA136900830TNXBc.2515+43C>A (n.2515+43C>A)
c.2371+43C>A (n.2371+43C>A)
 dbSNP gnomAD v4
6g.32089183C>ACA3735466TNXBc.2515+40G>T (n.2515+40G>T)
c.2371+40G>T (n.2371+40G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.32089183C=CA1619419634TNXBc.2515+40G= (n.2515+40G=)
c.2371+40G= (n.2371+40G=)
6g.32089183C>GCA2678098757TNXBc.2515+40G>C (n.2515+40G>C)
c.2371+40G>C (n.2371+40G>C)
 gnomAD v4
6g.32089185C>ACA2678098758TNXBc.2515+38G>T (n.2515+38G>T)
c.2371+38G>T (n.2371+38G>T)
 gnomAD v4
6g.32089186C>ACA2770527778TNXBc.2515+37G>T (n.2515+37G>T)
c.2371+37G>T (n.2371+37G>T)
6g.32089186C>TCA2678098759TNXBc.2515+37G>A (n.2515+37G>A)
c.2371+37G>A (n.2371+37G>A)
 gnomAD v4
6g.32089187A=CA1619419635TNXBc.2515+36T= (n.2515+36T=)
c.2371+36T= (n.2371+36T=)
6g.32089187A>GCA3735467TNXBc.2515+36T>C (n.2515+36T>C)
c.2371+36T>C (n.2371+36T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.32089188C>ACA1619419637TNXBc.2515+35G>T (n.2515+35G>T)
c.2371+35G>T (n.2371+35G>T)
 dbSNP gnomAD v4
6g.32089188C=CA1619419636TNXBc.2515+35G= (n.2515+35G=)
c.2371+35G= (n.2371+35G=)
6g.32089188C>TCA2678098760TNXBc.2515+35G>A (n.2515+35G>A)
c.2371+35G>A (n.2371+35G>A)
 gnomAD v4
6g.32089189T>CCA2678098761TNXBc.2515+34A>G (n.2515+34A>G)
c.2371+34A>G (n.2371+34A>G)
 gnomAD v4
6g.32089189T>GCA823932552TNXBc.2515+34A>C (n.2515+34A>C)
c.2371+34A>C (n.2371+34A>C)
 dbSNP gnomAD v3 gnomAD v4
6g.32089189T=CA1619419638TNXBc.2515+34A= (n.2515+34A=)
c.2371+34A= (n.2371+34A=)
6g.32089190C>ACA2678098762TNXBc.2515+33G>T (n.2515+33G>T)
c.2371+33G>T (n.2371+33G>T)
 gnomAD v4
6g.32089190C=CA1619419639TNXBc.2515+33G= (n.2515+33G=)
c.2371+33G= (n.2371+33G=)
6g.32089190C>GCA136900837TNXBc.2515+33G>C (n.2515+33G>C)
c.2371+33G>C (n.2371+33G>C)
 dbSNP gnomAD v2 gnomAD v4
6g.32089191A>GCA2678098763TNXBc.2515+32T>C (n.2515+32T>C)
c.2371+32T>C (n.2371+32T>C)
 gnomAD v4
6g.32089192G>ACA136900840TNXBc.2515+31C>T (n.2515+31C>T)
c.2371+31C>T (n.2371+31C>T)
 dbSNP gnomAD v3 gnomAD v4
6g.32089192G>CCA2678098764TNXBc.2515+31C>G (n.2515+31C>G)
c.2371+31C>G (n.2371+31C>G)
 gnomAD v4
6g.32089192G=CA1619419640TNXBc.2515+31C= (n.2515+31C=)
c.2371+31C= (n.2371+31C=)
6g.32089193_32089195delinsGACCA1619419641TNXBc.2515+28_2515+30delinsGTC (n.2515+28_2515+30delinsGTC)
c.2371+28_2371+30delinsGTC (n.2371+28_2371+30delinsGTC)
6g.32089196_32089197delCA1619419642TNXBc.2515+28_2515+29del (n.2515+28_2515+29del)
c.2371+28_2371+29del (n.2371+28_2371+29del)
 dbSNP
6g.32089195C>ACA823932557TNXBc.2515+28G>T (n.2515+28G>T)
c.2371+28G>T (n.2371+28G>T)
 dbSNP gnomAD v4
6g.32089195C=CA1619419643TNXBc.2515+28G= (n.2515+28G=)
c.2371+28G= (n.2371+28G=)
6g.32089195C>TCA1619419644TNXBc.2515+28G>A (n.2515+28G>A)
c.2371+28G>A (n.2371+28G>A)
 dbSNP gnomAD v4
6g.32089197C>ACA2678098767TNXBc.2515+26G>T (n.2515+26G>T)
c.2371+26G>T (n.2371+26G>T)
 gnomAD v4
6g.32089197C>GCA2678098766TNXBc.2515+26G>C (n.2515+26G>C)
c.2371+26G>C (n.2371+26G>C)
 gnomAD v4
6g.32089200delCA2678098765TNXBc.2515+26del (n.2515+26del)
c.2371+26del (n.2371+26del)
 gnomAD v4
6g.32089199C=CA1619419645TNXBc.2515+24G= (n.2515+24G=)
c.2371+24G= (n.2371+24G=)
6g.32089199C>GCA3735468TNXBc.2515+24G>C (n.2515+24G>C)
c.2371+24G>C (n.2371+24G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.32089199C>TCA1619419646TNXBc.2515+24G>A (n.2515+24G>A)
c.2371+24G>A (n.2371+24G>A)
 dbSNP
6g.32089202C>TCA2770527779TNXBc.2515+21G>A (n.2515+21G>A)
c.2371+21G>A (n.2371+21G>A)
6g.32089203C>TCA2678098768TNXBc.2515+20G>A (n.2515+20G>A)
c.2371+20G>A (n.2371+20G>A)
 gnomAD v4
6g.32089205C>ACA2678098769TNXBc.2515+18G>T (n.2515+18G>T)
c.2371+18G>T (n.2371+18G>T)
 gnomAD v4
6g.32089205C=CA1619419647TNXBc.2515+18G= (n.2515+18G=)
c.2371+18G= (n.2371+18G=)
6g.32089205C>TCA566695538TNXBc.2515+18G>A (n.2515+18G>A)
c.2371+18G>A (n.2371+18G>A)
 dbSNP gnomAD v2 gnomAD v4
6g.32089207C=CA1619419648TNXBc.2515+16G= (n.2515+16G=)
c.2371+16G= (n.2371+16G=)
6g.32089207C>GCA1619419650TNXBc.2515+16G>C (n.2515+16G>C)
c.2371+16G>C (n.2371+16G>C)
 dbSNP
6g.32089207C>TCA1619419649TNXBc.2515+16G>A (n.2515+16G>A)
c.2371+16G>A (n.2371+16G>A)
 dbSNP gnomAD v4
6g.32089208A>GCA2678098770TNXBc.2515+15T>C (n.2515+15T>C)
c.2371+15T>C (n.2371+15T>C)
 gnomAD v4
6g.32089210C>ACA2678098771TNXBc.2515+13G>T (n.2515+13G>T)
c.2371+13G>T (n.2371+13G>T)
 gnomAD v4
6g.32089212C>TCA2678098772TNXBc.2515+11G>A (n.2515+11G>A)
c.2371+11G>A (n.2371+11G>A)
 gnomAD v4
6g.32089213C>GCA2678098773TNXBc.2515+10G>C (n.2515+10G>C)
c.2371+10G>C (n.2371+10G>C)
 gnomAD v4
6g.32089215G>ACA1619419652TNXBc.2515+8C>T (n.2515+8C>T)
c.2371+8C>T (n.2371+8C>T)
 dbSNP gnomAD v4
6g.32089215G=CA1619419651TNXBc.2515+8C= (n.2515+8C=)
c.2371+8C= (n.2371+8C=)
6g.32089215G>TCA2533526592TNXBc.2515+8C>A (n.2515+8C>A)
c.2371+8C>A (n.2371+8C>A)
6g.32089218C=CA1619419653TNXBc.2515+5G= (n.2515+5G=)
c.2371+5G= (n.2371+5G=)
6g.32089218C>TCA566695539TNXBc.2515+5G>A (n.2515+5G>A)
c.2371+5G>A (n.2371+5G>A)
 dbSNP gnomAD v2
6g.32089219T>CCA2678098774TNXBc.2515+4A>G (n.2515+4A>G)
c.2371+4A>G (n.2371+4A>G)
 gnomAD v4
6g.32089220C>TCA449703069TNXBc.2515+3G>A (n.2515+3G>A)
c.2371+3G>A (n.2371+3G>A)
 COSMIC COSMIC
6g.32089221A>CCA363462853TNXBc.2515+2T>G (n.2515+2T>G)
c.2371+2T>G (n.2371+2T>G)
 gnomAD v4
6g.32089221A>GCA363462854TNXBc.2515+2T>C (n.2515+2T>C)
c.2371+2T>C (n.2371+2T>C)
 gnomAD v4
6g.32089221A>TCA363462859TNXBc.2515+2T>A (n.2515+2T>A)
c.2371+2T>A (n.2371+2T>A)
6g.32089222C>ACA363462869TNXBc.2515+1G>T (n.2515+1G>T)
c.2371+1G>T (n.2371+1G>T)
 gnomAD v4
6g.32089222C>GCA363462875TNXBc.2515+1G>C (n.2515+1G>C)
c.2371+1G>C (n.2371+1G>C)
6g.32089222C>TCA363462882TNXBc.2515+1G>A (n.2515+1G>A)
c.2371+1G>A (n.2371+1G>A)
6g.32089223T>ACA363462884TNXBc.2515A>T (p.Met839Leu)
c.2371A>T (p.Met791Leu)
6g.32089223T>CCA363462891TNXBc.2515A>G (p.Met839Val)
c.2371A>G (p.Met791Val)
6g.32089223T>GCA363462886TNXBc.2515A>C (p.Met839Leu)
c.2371A>C (p.Met791Leu)
6g.32089224G>ACA3735469TNXBc.2514C>T (p.Thr838=)
c.2370C>T (p.Thr790=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.32089224G>CCA449703071TNXBc.2514C>G (p.Thr838=)
c.2370C>G (p.Thr790=)
6g.32089224G=CA1619419654TNXBc.2514C= (p.Thr838=)
c.2370C= (p.Thr790=)
6g.32089224G>TCA449703070TNXBc.2514C>A (p.Thr838=)
c.2370C>A (p.Thr790=)
6g.32089225G>ACA3735470TNXBc.2513C>T (p.Thr838Ile)
c.2369C>T (p.Thr790Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.32089225G>CCA363462903TNXBc.2513C>G (p.Thr838Ser)
c.2369C>G (p.Thr790Ser)
6g.32089225G=CA1619419655TNXBc.2513C= (p.Thr838=)
c.2369C= (p.Thr790=)
6g.32089225G>TCA363462911TNXBc.2513C>A (p.Thr838Asn)
c.2369C>A (p.Thr790Asn)
6g.32089226T>ACA363462912TNXBc.2512A>T (p.Thr838Ser)
c.2368A>T (p.Thr790Ser)
6g.32089226T>CCA363462917TNXBc.2512A>G (p.Thr838Ala)
c.2368A>G (p.Thr790Ala)
6g.32089226T>GCA363462925TNXBc.2512A>C (p.Thr838Pro)
c.2368A>C (p.Thr790Pro)
6g.32089227G>ACA449703072TNXBc.2511C>T (p.Thr837=)
c.2367C>T (p.Thr789=)
6g.32089227G>CCA449703074TNXBc.2511C>G (p.Thr837=)
c.2367C>G (p.Thr789=)
6g.32089227G>TCA449703073TNXBc.2511C>A (p.Thr837=)
c.2367C>A (p.Thr789=)
6g.32089228G>ACA363462930TNXBc.2510C>T (p.Thr837Ile)
c.2366C>T (p.Thr789Ile)
 gnomAD v4
6g.32089228G>CCA363462932TNXBc.2510C>G (p.Thr837Ser)
c.2366C>G (p.Thr789Ser)
6g.32089228G>TCA363462933TNXBc.2510C>A (p.Thr837Asn)
c.2366C>A (p.Thr789Asn)
6g.32089229T>ACA363462937TNXBc.2509A>T (p.Thr837Ser)
c.2365A>T (p.Thr789Ser)
6g.32089229T>CCA363462935TNXBc.2509A>G (p.Thr837Ala)
c.2365A>G (p.Thr789Ala)
6g.32089229T>GCA363462934TNXBc.2509A>C (p.Thr837Pro)
c.2365A>C (p.Thr789Pro)
6g.32089230G>ACA449703075TNXBc.2508C>T (p.Ile836=)
c.2364C>T (p.Ile788=)
6g.32089230G>CCA363462942TNXBc.2508C>G (p.Ile836Met)
c.2364C>G (p.Ile788Met)
6g.32089230G>TCA449703076TNXBc.2508C>A (p.Ile836=)
c.2364C>A (p.Ile788=)
6g.32089231A>CCA363462968TNXBc.2507T>G (p.Ile836Ser)
c.2363T>G (p.Ile788Ser)
6g.32089231A>GCA363462975TNXBc.2507T>C (p.Ile836Thr)
c.2363T>C (p.Ile788Thr)
6g.32089231A>TCA363462981TNXBc.2507T>A (p.Ile836Asn)
c.2363T>A (p.Ile788Asn)
6g.32089232T>ACA363462992TNXBc.2506A>T (p.Ile836Phe)
c.2362A>T (p.Ile788Phe)
6g.32089232T>CCA363462995TNXBc.2506A>G (p.Ile836Val)
c.2362A>G (p.Ile788Val)
6g.32089232T>GCA363463002TNXBc.2506A>C (p.Ile836Leu)
c.2362A>C (p.Ile788Leu)
6g.32089233G>ACA449703077TNXBc.2505C>T (p.Thr835=)
c.2361C>T (p.Thr787=)
6g.32089233G>CCA449703078TNXBc.2505C>G (p.Thr835=)
c.2361C>G (p.Thr787=)
6g.32089233G>TCA449703079TNXBc.2505C>A (p.Thr835=)
c.2361C>A (p.Thr787=)
6g.32089234G>ACA363463009TNXBc.2504C>T (p.Thr835Ile)
c.2360C>T (p.Thr787Ile)
 gnomAD v4
6g.32089234G>CCA363463010TNXBc.2504C>G (p.Thr835Ser)
c.2360C>G (p.Thr787Ser)
6g.32089234G=CA1619419656TNXBc.2504C= (p.Thr835=)
c.2360C= (p.Thr787=)
6g.32089234G>TCA363463011TNXBc.2504C>A (p.Thr835Asn)
c.2360C>A (p.Thr787Asn)
 dbSNP gnomAD v4
6g.32089235T>ACA363463017TNXBc.2503A>T (p.Thr835Ser)
c.2359A>T (p.Thr787Ser)
6g.32089235T>CCA363463026TNXBc.2503A>G (p.Thr835Ala)
c.2359A>G (p.Thr787Ala)
6g.32089235T>GCA363463028TNXBc.2503A>C (p.Thr835Pro)
c.2359A>C (p.Thr787Pro)
6g.32089236C>ACA363463032TNXBc.2502G>T (p.Lys834Asn)
c.2358G>T (p.Lys786Asn)
 gnomAD v4
6g.32089236C>GCA363463030TNXBc.2502G>C (p.Lys834Asn)
c.2358G>C (p.Lys786Asn)
6g.32089236C>TCA449703080TNXBc.2502G>A (p.Lys834=)
c.2358G>A (p.Lys786=)
6g.32089237T>ACA363463037TNXBc.2501A>T (p.Lys834Met)
c.2357A>T (p.Lys786Met)
6g.32089237T>CCA363463039TNXBc.2501A>G (p.Lys834Arg)
c.2357A>G (p.Lys786Arg)
6g.32089237T>GCA363463042TNXBc.2501A>C (p.Lys834Thr)
c.2357A>C (p.Lys786Thr)
 gnomAD v4
6g.32089238T>ACA363463054TNXBc.2500A>T (p.Lys834Ter)
c.2356A>T (p.Lys786Ter)
6g.32089238T>CCA363463059TNXBc.2500A>G (p.Lys834Glu)
c.2356A>G (p.Lys786Glu)
 gnomAD v4
6g.32089238T>GCA363463062TNXBc.2500A>C (p.Lys834Gln)
c.2356A>C (p.Lys786Gln)
6g.32089239G>ACA449703081TNXBc.2499C>T (p.Ser833=)
c.2355C>T (p.Ser785=)
6g.32089239G>CCA449703082TNXBc.2499C>G (p.Ser833=)
c.2355C>G (p.Ser785=)
6g.32089239G>TCA449703083TNXBc.2499C>A (p.Ser833=)
c.2355C>A (p.Ser785=)
6g.32089240G>ACA363463070TNXBc.2498C>T (p.Ser833Phe)
c.2354C>T (p.Ser785Phe)
6g.32089240G>CCA363463077TNXBc.2498C>G (p.Ser833Cys)
c.2354C>G (p.Ser785Cys)
6g.32089240G>TCA363463080TNXBc.2498C>A (p.Ser833Tyr)
c.2354C>A (p.Ser785Tyr)
6g.32089241A>CCA363463083TNXBc.2497T>G (p.Ser833Ala)
c.2353T>G (p.Ser785Ala)
6g.32089241A>GCA363463092TNXBc.2497T>C (p.Ser833Pro)
c.2353T>C (p.Ser785Pro)
6g.32089241A>TCA363463096TNXBc.2497T>A (p.Ser833Thr)
c.2353T>A (p.Ser785Thr)
6g.32089241_32089242insTGTATGTTTTACACATCTGGTAGGTGTTAGTCA2770527780TNXBc.2496_2497insACTAACACCTACCAGATGTGTAAAACATACA (p.Ser833ThrfsTer?)
c.2352_2353insACTAACACCTACCAGATGTGTAAAACATACA (p.Ser785ThrfsTer?)
6g.32089242G>ACA449703084TNXBc.2496C>T (p.Ala832=)
c.2352C>T (p.Ala784=)
 gnomAD v4
6g.32089242G>CCA449703085TNXBc.2496C>G (p.Ala832=)
c.2352C>G (p.Ala784=)
6g.32089242G>TCA449703086TNXBc.2496C>A (p.Ala832=)
c.2352C>A (p.Ala784=)
6g.32089243G>ACA363463105TNXBc.2495C>T (p.Ala832Val)
c.2351C>T (p.Ala784Val)
6g.32089243G>CCA363463109TNXBc.2495C>G (p.Ala832Gly)
c.2351C>G (p.Ala784Gly)
6g.32089243G>TCA363463108TNXBc.2495C>A (p.Ala832Asp)
c.2351C>A (p.Ala784Asp)
6g.32089244C>ACA363463111TNXBc.2494G>T (p.Ala832Ser)
c.2350G>T (p.Ala784Ser)
 dbSNP gnomAD v2 gnomAD v4
6g.32089244C=CA1619419657TNXBc.2494G= (p.Ala832=)
c.2350G= (p.Ala784=)
6g.32089244C>GCA363463115TNXBc.2494G>C (p.Ala832Pro)
c.2350G>C (p.Ala784Pro)
6g.32089244C>TCA363463113TNXBc.2494G>A (p.Ala832Thr)
c.2350G>A (p.Ala784Thr)
6g.32089245A=CA1619419658TNXBc.2493T= (p.Pro831=)
c.2349T= (p.Pro783=)
6g.32089245A>CCA449703087TNXBc.2493T>G (p.Pro831=)
c.2349T>G (p.Pro783=)
6g.32089245A>GCA449703088TNXBc.2493T>C (p.Pro831=)
c.2349T>C (p.Pro783=)
 dbSNP gnomAD v3 gnomAD v4
6g.32089245A>TCA449703089TNXBc.2493T>A (p.Pro831=)
c.2349T>A (p.Pro783=)
6g.32089246G>ACA363463120TNXBc.2492C>T (p.Pro831Leu)
c.2348C>T (p.Pro783Leu)
 gnomAD v4
6g.32089246G>CCA363463128TNXBc.2492C>G (p.Pro831Arg)
c.2348C>G (p.Pro783Arg)
6g.32089246G>TCA363463124TNXBc.2492C>A (p.Pro831His)
c.2348C>A (p.Pro783His)
6g.32089247G>ACA363463134TNXBc.2491C>T (p.Pro831Ser)
c.2347C>T (p.Pro783Ser)
 gnomAD v4
6g.32089247G>CCA363463150TNXBc.2491C>G (p.Pro831Ala)
c.2347C>G (p.Pro783Ala)
6g.32089247G>TCA363463137TNXBc.2491C>A (p.Pro831Thr)
c.2347C>A (p.Pro783Thr)
6g.32089248A>CCA449703092TNXBc.2490T>G (p.Leu830=)
c.2346T>G (p.Leu782=)
6g.32089248A>GCA449703091TNXBc.2490T>C (p.Leu830=)
c.2346T>C (p.Leu782=)
6g.32089248A>TCA449703090TNXBc.2490T>A (p.Leu830=)
c.2346T>A (p.Leu782=)
6g.32089249A=CA1619419659TNXBc.2489T= (p.Leu830=)
c.2345T= (p.Leu782=)
6g.32089249A>CCA363463186TNXBc.2489T>G (p.Leu830Arg)
c.2345T>G (p.Leu782Arg)
6g.32089249A>GCA363463199TNXBc.2489T>C (p.Leu830Pro)
c.2345T>C (p.Leu782Pro)
 dbSNP
6g.32089249A>TCA363463191TNXBc.2489T>A (p.Leu830His)
c.2345T>A (p.Leu782His)
6g.32089250G>ACA363463204TNXBc.2488C>T (p.Leu830Phe)
c.2344C>T (p.Leu782Phe)
 gnomAD v4 COSMIC COSMIC
6g.32089250G>CCA363463215TNXBc.2488C>G (p.Leu830Val)
c.2344C>G (p.Leu782Val)
6g.32089250G>TCA363463206TNXBc.2488C>A (p.Leu830Ile)
c.2344C>A (p.Leu782Ile)
6g.32089251G>ACA449703093TNXBc.2487C>T (p.Gly829=)
c.2343C>T (p.Gly781=)
 gnomAD v4
6g.32089251G>CCA449703094TNXBc.2487C>G (p.Gly829=)
c.2343C>G (p.Gly781=)
6g.32089251G=CA1619419660TNXBc.2487C= (p.Gly829=)
c.2343C= (p.Gly781=)
6g.32089251G>TCA449703095TNXBc.2487C>A (p.Gly829=)
c.2343C>A (p.Gly781=)
 ClinVar dbSNP gnomAD v4
6g.32089252C>ACA363463223TNXBc.2486G>T (p.Gly829Val)
c.2342G>T (p.Gly781Val)
 gnomAD v4
6g.32089252C>GCA363463228TNXBc.2486G>C (p.Gly829Ala)
c.2342G>C (p.Gly781Ala)
6g.32089252C>TCA363463232TNXBc.2486G>A (p.Gly829Asp)
c.2342G>A (p.Gly781Asp)
6g.32089255delCA2678098776TNXBc.2486del (p.Gly829AlafsTer11)
c.2342del (p.Gly781AlafsTer11)
 gnomAD v4
6g.32089253C>ACA363463241TNXBc.2485G>T (p.Gly829Cys)
c.2341G>T (p.Gly781Cys)
6g.32089253C=CA1619419661TNXBc.2485G= (p.Gly829=)
c.2341G= (p.Gly781=)
6g.32089253C>GCA363463249TNXBc.2485G>C (p.Gly829Arg)
c.2341G>C (p.Gly781Arg)
6g.32089253C>TCA3735471TNXBc.2485G>A (p.Gly829Ser)
c.2341G>A (p.Gly781Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.32089254C>ACA363463256TNXBc.2484G>T (p.Trp828Cys)
c.2340G>T (p.Trp780Cys)
 gnomAD v4
6g.32089254C>GCA363463258TNXBc.2484G>C (p.Trp828Cys)
c.2340G>C (p.Trp780Cys)
6g.32089254C>TCA363463264TNXBc.2484G>A (p.Trp828Ter)
c.2340G>A (p.Trp780Ter)
6g.32089255C>ACA363463273TNXBc.2483G>T (p.Trp828Leu)
c.2339G>T (p.Trp780Leu)
6g.32089255C>GCA363463276TNXBc.2483G>C (p.Trp828Ser)
c.2339G>C (p.Trp780Ser)
6g.32089255C>TCA363463305TNXBc.2483G>A (p.Trp828Ter)
c.2339G>A (p.Trp780Ter)
6g.32089256A>CCA363463315TNXBc.2482T>G (p.Trp828Gly)
c.2338T>G (p.Trp780Gly)
 ClinVar
6g.32089256A>GCA363463350TNXBc.2482T>C (p.Trp828Arg)
c.2338T>C (p.Trp780Arg)
6g.32089256A>TCA363463346TNXBc.2482T>A (p.Trp828Arg)
c.2338T>A (p.Trp780Arg)
6g.32089257G>ACA449703096TNXBc.2481C>T (p.Ser827=)
c.2337C>T (p.Ser779=)
6g.32089257G>CCA363463356TNXBc.2481C>G (p.Ser827Arg)
c.2337C>G (p.Ser779Arg)
6g.32089257G=CA1619419662TNXBc.2481C= (p.Ser827=)
c.2337C= (p.Ser779=)
6g.32089257G>TCA3735472TNXBc.2481C>A (p.Ser827Arg)
c.2337C>A (p.Ser779Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.32089258C>ACA363463373TNXBc.2480G>T (p.Ser827Ile)
c.2336G>T (p.Ser779Ile)
6g.32089258C>GCA363463386TNXBc.2480G>C (p.Ser827Thr)
c.2336G>C (p.Ser779Thr)
6g.32089258C>TCA363463390TNXBc.2480G>A (p.Ser827Asn)
c.2336G>A (p.Ser779Asn)
6g.32089259T>ACA363463402TNXBc.2479A>T (p.Ser827Cys)
c.2335A>T (p.Ser779Cys)
 dbSNP gnomAD v2 gnomAD v4
6g.32089259T>CCA363463404TNXBc.2479A>G (p.Ser827Gly)
c.2335A>G (p.Ser779Gly)
6g.32089259T>GCA363463409TNXBc.2479A>C (p.Ser827Arg)
c.2335A>C (p.Ser779Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.32089259T=CA1619419663TNXBc.2479A= (p.Ser827=)
c.2335A= (p.Ser779=)
6g.32089260G>ACA449703097TNXBc.2478C>T (p.Thr826=)
c.2334C>T (p.Thr778=)
 dbSNP gnomAD v4
6g.32089260G>CCA449703099TNXBc.2478C>G (p.Thr826=)
c.2334C>G (p.Thr778=)
6g.32089260G=CA1619419664TNXBc.2478C= (p.Thr826=)
c.2334C= (p.Thr778=)
6g.32089260G>TCA449703098TNXBc.2478C>A (p.Thr826=)
c.2334C>A (p.Thr778=)
 dbSNP gnomAD v2
6g.32089261G>ACA363463431TNXBc.2477C>T (p.Thr826Ile)
c.2333C>T (p.Thr778Ile)
6g.32089261G>CCA363463424TNXBc.2477C>G (p.Thr826Ser)
c.2333C>G (p.Thr778Ser)
6g.32089261G>TCA363463423TNXBc.2477C>A (p.Thr826Asn)
c.2333C>A (p.Thr778Asn)
6g.32089262T>ACA363463437TNXBc.2476A>T (p.Thr826Ser)
c.2332A>T (p.Thr778Ser)
6g.32089262T>CCA363463462TNXBc.2476A>G (p.Thr826Ala)
c.2332A>G (p.Thr778Ala)
6g.32089262T>GCA363463467TNXBc.2476A>C (p.Thr826Pro)
c.2332A>C (p.Thr778Pro)
6g.32089263C>ACA449703100TNXBc.2475G>T (p.Gly825=)
c.2331G>T (p.Gly777=)
6g.32089263C=CA1619419665TNXBc.2475G= (p.Gly825=)
c.2331G= (p.Gly777=)
6g.32089263C>GCA449703101TNXBc.2475G>C (p.Gly825=)
c.2331G>C (p.Gly777=)
6g.32089263C>TCA449703102TNXBc.2475G>A (p.Gly825=)
c.2331G>A (p.Gly777=)
 dbSNP gnomAD v2 gnomAD v4
6g.32089264C>ACA363463473TNXBc.2474G>T (p.Gly825Val)
c.2330G>T (p.Gly777Val)
6g.32089264C>GCA363463479TNXBc.2474G>C (p.Gly825Ala)
c.2330G>C (p.Gly777Ala)
6g.32089264C>TCA363463495TNXBc.2474G>A (p.Gly825Glu)
c.2330G>A (p.Gly777Glu)
6g.32089265C>ACA363463511TNXBc.2473G>T (p.Gly825Trp)
c.2329G>T (p.Gly777Trp)
6g.32089265C>GCA363463519TNXBc.2473G>C (p.Gly825Arg)
c.2329G>C (p.Gly777Arg)
6g.32089265C>TCA363463525TNXBc.2473G>A (p.Gly825Arg)
c.2329G>A (p.Gly777Arg)
6g.32089266T>ACA449703103TNXBc.2472A>T (p.Arg824=)
c.2328A>T (p.Arg776=)
6g.32089266T>CCA449703104TNXBc.2472A>G (p.Arg824=)
c.2328A>G (p.Arg776=)
6g.32089266T>GCA449703105TNXBc.2472A>C (p.Arg824=)
c.2328A>C (p.Arg776=)
6g.32089267C>ACA363463552TNXBc.2471G>T (p.Arg824Leu)
c.2327G>T (p.Arg776Leu)
6g.32089267C=CA1619419666TNXBc.2471G= (p.Arg824=)
c.2327G= (p.Arg776=)
6g.32089267C>GCA363463554TNXBc.2471G>C (p.Arg824Pro)
c.2327G>C (p.Arg776Pro)
6g.32089267C>TCA3735473TNXBc.2471G>A (p.Arg824Gln)
c.2327G>A (p.Arg776Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.32089268G>ACA3735474TNXBc.2470C>T (p.Arg824Ter)
c.2326C>T (p.Arg776Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.32089268G>CCA363463572TNXBc.2470C>G (p.Arg824Gly)
c.2326C>G (p.Arg776Gly)
6g.32089268G=CA1619419667TNXBc.2470C= (p.Arg824=)
c.2326C= (p.Arg776=)
6g.32089268G>TCA449703106TNXBc.2470C>A (p.Arg824=)
c.2326C>A (p.Arg776=)
6g.32089269A>CCA449703109TNXBc.2469T>G (p.Leu823=)
c.2325T>G (p.Leu775=)
6g.32089269A>GCA449703107TNXBc.2469T>C (p.Leu823=)
c.2325T>C (p.Leu775=)
6g.32089269A>TCA449703108TNXBc.2469T>A (p.Leu823=)
c.2325T>A (p.Leu775=)
6g.32089270A>CCA363463582TNXBc.2468T>G (p.Leu823Arg)
c.2324T>G (p.Leu775Arg)
6g.32089270A>GCA363463589TNXBc.2468T>C (p.Leu823Pro)
c.2324T>C (p.Leu775Pro)
6g.32089270A>TCA363463594TNXBc.2468T>A (p.Leu823His)
c.2324T>A (p.Leu775His)
6g.32089271G>ACA363463602TNXBc.2467C>T (p.Leu823Phe)
c.2323C>T (p.Leu775Phe)
 gnomAD v4
6g.32089271G>CCA3735475TNXBc.2467C>G (p.Leu823Val)
c.2323C>G (p.Leu775Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.32089271G=CA1619419668TNXBc.2467C= (p.Leu823=)
c.2323C= (p.Leu775=)
6g.32089271G>TCA363463632TNXBc.2467C>A (p.Leu823Ile)
c.2323C>A (p.Leu775Ile)
6g.32089272G>ACA449703110TNXBc.2466C>T (p.Ala822=)
c.2322C>T (p.Ala774=)
6g.32089272G>CCA3735477TNXBc.2466C>G (p.Ala822=)
c.2322C>G (p.Ala774=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.32089272G=CA1619419669TNXBc.2466C= (p.Ala822=)
c.2322C= (p.Ala774=)
6g.32089272G>TCA3735476TNXBc.2466C>A (p.Ala822=)
c.2322C>A (p.Ala774=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.32089273G>ACA363463640TNXBc.2465C>T (p.Ala822Val)
c.2321C>T (p.Ala774Val)
6g.32089273G>CCA363463641TNXBc.2465C>G (p.Ala822Gly)
c.2321C>G (p.Ala774Gly)
6g.32089273G=CA1619419670TNXBc.2465C= (p.Ala822=)
c.2321C= (p.Ala774=)
6g.32089273G>TCA3735478TNXBc.2465C>A (p.Ala822Asp)
c.2321C>A (p.Ala774Asp)
 dbSNP ExAC gnomAD v3 gnomAD v4
6g.32089274C>ACA363463645TNXBc.2464G>T (p.Ala822Ser)
c.2320G>T (p.Ala774Ser)
6g.32089274C>GCA363463653TNXBc.2464G>C (p.Ala822Pro)
c.2320G>C (p.Ala774Pro)
6g.32089274C>TCA363463642TNXBc.2464G>A (p.Ala822Thr)
c.2320G>A (p.Ala774Thr)
6g.32089275T>ACA449703111TNXBc.2463A>T (p.Arg821=)
c.2319A>T (p.Arg773=)
 dbSNP
6g.32089275T>CCA449703112TNXBc.2463A>G (p.Arg821=)
c.2319A>G (p.Arg773=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.32089275T>GCA449703113TNXBc.2463A>C (p.Arg821=)
c.2319A>C (p.Arg773=)
6g.32089275T=CA1619419671TNXBc.2463A= (p.Arg821=)
c.2319A= (p.Arg773=)
6g.32089276C>ACA363463661TNXBc.2462G>T (p.Arg821Leu)
c.2318G>T (p.Arg773Leu)
6g.32089276C=CA1619419672TNXBc.2462G= (p.Arg821=)
c.2318G= (p.Arg773=)
6g.32089276C>GCA363463664TNXBc.2462G>C (p.Arg821Pro)
c.2318G>C (p.Arg773Pro)
6g.32089276C>TCA3735479TNXBc.2462G>A (p.Arg821Gln)
c.2318G>A (p.Arg773Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.32089277G>ACA3735480TNXBc.2461C>T (p.Arg821Ter)
c.2317C>T (p.Arg773Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.32089277G>CCA363463665TNXBc.2461C>G (p.Arg821Gly)
c.2317C>G (p.Arg773Gly)
6g.32089277G=CA1619419673TNXBc.2461C= (p.Arg821=)
c.2317C= (p.Arg773=)
6g.32089277G>TCA449703114TNXBc.2461C>A (p.Arg821=)
c.2317C>A (p.Arg773=)

Number of alleles fetched