Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.94606753delCA2720383536FBP1c.865+63del (n.865+63del)
c.705+63del (n.705+63del)
c.510+63del (n.510+63del)
c.459+63del (n.459+63del)
 dbSNP
9g.94606753C>GCA2690769315FBP1c.865+62G>C (n.865+62G>C)
c.705+62G>C (n.705+62G>C)
c.510+62G>C (n.510+62G>C)
c.459+62G>C (n.459+62G>C)
 gnomAD v4
9g.94606753C>TCA2690769316FBP1c.865+62G>A (n.865+62G>A)
c.705+62G>A (n.705+62G>A)
c.510+62G>A (n.510+62G>A)
c.459+62G>A (n.459+62G>A)
 gnomAD v4
9g.94606754A=CA1865226579FBP1c.865+61T= (n.865+61T=)
c.705+61T= (n.705+61T=)
c.510+61T= (n.510+61T=)
c.459+61T= (n.459+61T=)
9g.94606754A>CCA589254763FBP1c.865+61T>G (n.865+61T>G)
c.705+61T>G (n.705+61T>G)
c.510+61T>G (n.510+61T>G)
c.459+61T>G (n.459+61T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94606754A>GCA2579387236FBP1c.865+61T>C (n.865+61T>C)
c.705+61T>C (n.705+61T>C)
c.510+61T>C (n.510+61T>C)
c.459+61T>C (n.459+61T>C)
9g.94606755G>ACA868728115FBP1c.865+60C>T (n.865+60C>T)
c.705+60C>T (n.705+60C>T)
c.510+60C>T (n.510+60C>T)
c.459+60C>T (n.459+60C>T)
 dbSNP gnomAD v3 gnomAD v4
9g.94606755G=CA1865226580FBP1c.865+60C= (n.865+60C=)
c.705+60C= (n.705+60C=)
c.510+60C= (n.510+60C=)
c.459+60C= (n.459+60C=)
9g.94606755G>TCA2690769317FBP1c.865+60C>A (n.865+60C>A)
c.705+60C>A (n.705+60C>A)
c.510+60C>A (n.510+60C>A)
c.459+60C>A (n.459+60C>A)
 gnomAD v4
9g.94606758C=CA1865226581FBP1c.865+57G= (n.865+57G=)
c.705+57G= (n.705+57G=)
c.510+57G= (n.510+57G=)
c.459+57G= (n.459+57G=)
9g.94606758C>TCA589254764FBP1c.865+57G>A (n.865+57G>A)
c.705+57G>A (n.705+57G>A)
c.510+57G>A (n.510+57G>A)
c.459+57G>A (n.459+57G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94606759G>ACA196553350FBP1c.865+56C>T (n.865+56C>T)
c.705+56C>T (n.705+56C>T)
c.510+56C>T (n.510+56C>T)
c.459+56C>T (n.459+56C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94606759G=CA1865226582FBP1c.865+56C= (n.865+56C=)
c.705+56C= (n.705+56C=)
c.510+56C= (n.510+56C=)
c.459+56C= (n.459+56C=)
9g.94606759G>TCA2579387237FBP1c.865+56C>A (n.865+56C>A)
c.705+56C>A (n.705+56C>A)
c.510+56C>A (n.510+56C>A)
c.459+56C>A (n.459+56C>A)
 gnomAD v4
9g.94606760G>ACA2579387238FBP1c.865+55C>T (n.865+55C>T)
c.705+55C>T (n.705+55C>T)
c.510+55C>T (n.510+55C>T)
c.459+55C>T (n.459+55C>T)
 gnomAD v4
9g.94606760G>TCA2690769318FBP1c.865+55C>A (n.865+55C>A)
c.705+55C>A (n.705+55C>A)
c.510+55C>A (n.510+55C>A)
c.459+55C>A (n.459+55C>A)
 gnomAD v4
9g.94606761C>TCA2690769319FBP1c.865+54G>A (n.865+54G>A)
c.705+54G>A (n.705+54G>A)
c.510+54G>A (n.510+54G>A)
c.459+54G>A (n.459+54G>A)
 gnomAD v4
9g.94606762C>ACA868728126FBP1c.865+53G>T (n.865+53G>T)
c.705+53G>T (n.705+53G>T)
c.510+53G>T (n.510+53G>T)
c.459+53G>T (n.459+53G>T)
 dbSNP gnomAD v3 gnomAD v4
9g.94606762C=CA1865226583FBP1c.865+53G= (n.865+53G=)
c.705+53G= (n.705+53G=)
c.510+53G= (n.510+53G=)
c.459+53G= (n.459+53G=)
9g.94606762C>TCA868728129FBP1c.865+53G>A (n.865+53G>A)
c.705+53G>A (n.705+53G>A)
c.510+53G>A (n.510+53G>A)
c.459+53G>A (n.459+53G>A)
 dbSNP gnomAD v3 gnomAD v4
9g.94606763T>CCA589254767FBP1c.865+52A>G (n.865+52A>G)
c.705+52A>G (n.705+52A>G)
c.510+52A>G (n.510+52A>G)
c.459+52A>G (n.459+52A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94606763T=CA1865226584FBP1c.865+52A= (n.865+52A=)
c.705+52A= (n.705+52A=)
c.510+52A= (n.510+52A=)
c.459+52A= (n.459+52A=)
9g.94606764C=CA1865226585FBP1c.865+51G= (n.865+51G=)
c.705+51G= (n.705+51G=)
c.510+51G= (n.510+51G=)
c.459+51G= (n.459+51G=)
9g.94606764C>GCA5136149FBP1c.865+51G>C (n.865+51G>C)
c.705+51G>C (n.705+51G>C)
c.510+51G>C (n.510+51G>C)
c.459+51G>C (n.459+51G>C)
 dbSNP ExAC gnomAD v4
9g.94606765T>CCA589254769FBP1c.865+50A>G (n.865+50A>G)
c.705+50A>G (n.705+50A>G)
c.510+50A>G (n.510+50A>G)
c.459+50A>G (n.459+50A>G)
 dbSNP gnomAD v2
9g.94606765T=CA1865226586FBP1c.865+50A= (n.865+50A=)
c.705+50A= (n.705+50A=)
c.510+50A= (n.510+50A=)
c.459+50A= (n.459+50A=)
9g.94606765_94606766insATTCTCGGCCGTTCGCTATAGAATTTCCGCGCGAATATTTCGCATACAATGCTATCATCTTTCAGTACCGTACCGTTAAGGGCATCGAGTACACCCTTGACATAATTGTCTGTATCGGGCTTTGTCGTCGCA2571852417FBP1c.865+49_865+50insCGACGACAAAGCCCGATACAGACAATTATGTCAAGGGTGTACTCGATGCCCTTAACGGTACGGTACTGAAAGATGATAGCATTGTATGCGAAATATTCGCGCGGAAATTCTATAGCGAACGGCCGAGAAT (n.865+49_865+50insCGACGACAAAGCCCGATACAGACAATTATGTCAAGGGTGTACTCGATGCCCTTAACGGTACGGTACTGAAAGATGATAGCATTGTATGCGAAATATTCGCGCGGAAATTCTATAGCGAACGGCCGAGAAT)
c.705+49_705+50insCGACGACAAAGCCCGATACAGACAATTATGTCAAGGGTGTACTCGATGCCCTTAACGGTACGGTACTGAAAGATGATAGCATTGTATGCGAAATATTCGCGCGGAAATTCTATAGCGAACGGCCGAGAAT (n.705+49_705+50insCGACGACAAAGCCCGATACAGACAATTATGTCAAGGGTGTACTCGATGCCCTTAACGGTACGGTACTGAAAGATGATAGCATTGTATGCGAAATATTCGCGCGGAAATTCTATAGCGAACGGCCGAGAAT)
c.510+49_510+50insCGACGACAAAGCCCGATACAGACAATTATGTCAAGGGTGTACTCGATGCCCTTAACGGTACGGTACTGAAAGATGATAGCATTGTATGCGAAATATTCGCGCGGAAATTCTATAGCGAACGGCCGAGAAT (n.510+49_510+50insCGACGACAAAGCCCGATACAGACAATTATGTCAAGGGTGTACTCGATGCCCTTAACGGTACGGTACTGAAAGATGATAGCATTGTATGCGAAATATTCGCGCGGAAATTCTATAGCGAACGGCCGAGAAT)
c.459+49_459+50insCGACGACAAAGCCCGATACAGACAATTATGTCAAGGGTGTACTCGATGCCCTTAACGGTACGGTACTGAAAGATGATAGCATTGTATGCGAAATATTCGCGCGGAAATTCTATAGCGAACGGCCGAGAAT (n.459+49_459+50insCGACGACAAAGCCCGATACAGACAATTATGTCAAGGGTGTACTCGATGCCCTTAACGGTACGGTACTGAAAGATGATAGCATTGTATGCGAAATATTCGCGCGGAAATTCTATAGCGAACGGCCGAGAAT)
9g.94606766G>ACA1126930705FBP1c.865+49C>T (n.865+49C>T)
c.705+49C>T (n.705+49C>T)
c.510+49C>T (n.510+49C>T)
c.459+49C>T (n.459+49C>T)
 dbSNP gnomAD v3 gnomAD v4
9g.94606766G=CA1865226587FBP1c.865+49C= (n.865+49C=)
c.705+49C= (n.705+49C=)
c.510+49C= (n.510+49C=)
c.459+49C= (n.459+49C=)
9g.94606766G>TCA2690769320FBP1c.865+49C>A (n.865+49C>A)
c.705+49C>A (n.705+49C>A)
c.510+49C>A (n.510+49C>A)
c.459+49C>A (n.459+49C>A)
 gnomAD v4
9g.94606767delCA2562103284FBP1c.865+49del (n.865+49del)
c.705+49del (n.705+49del)
c.510+49del (n.510+49del)
c.459+49del (n.459+49del)
 gnomAD v4
9g.94606767G>ACA1865226588FBP1c.865+48C>T (n.865+48C>T)
c.705+48C>T (n.705+48C>T)
c.510+48C>T (n.510+48C>T)
c.459+48C>T (n.459+48C>T)
 dbSNP
9g.94606767G>CCA868728137FBP1c.865+48C>G (n.865+48C>G)
c.705+48C>G (n.705+48C>G)
c.510+48C>G (n.510+48C>G)
c.459+48C>G (n.459+48C>G)
 dbSNP gnomAD v4
9g.94606767G=CA1865226589FBP1c.865+48C= (n.865+48C=)
c.705+48C= (n.705+48C=)
c.510+48C= (n.510+48C=)
c.459+48C= (n.459+48C=)
9g.94606767G>TCA589254771FBP1c.865+48C>A (n.865+48C>A)
c.705+48C>A (n.705+48C>A)
c.510+48C>A (n.510+48C>A)
c.459+48C>A (n.459+48C>A)
 dbSNP gnomAD v2 gnomAD v4
9g.94606768T>ACA2690769321FBP1c.865+47A>T (n.865+47A>T)
c.705+47A>T (n.705+47A>T)
c.510+47A>T (n.510+47A>T)
c.459+47A>T (n.459+47A>T)
 gnomAD v4
9g.94606768T>CCA2579387239FBP1c.865+47A>G (n.865+47A>G)
c.705+47A>G (n.705+47A>G)
c.510+47A>G (n.510+47A>G)
c.459+47A>G (n.459+47A>G)
 gnomAD v4
9g.94606769G>ACA5136150FBP1c.865+46C>T (n.865+46C>T)
c.705+46C>T (n.705+46C>T)
c.510+46C>T (n.510+46C>T)
c.459+46C>T (n.459+46C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94606769G=CA1865226590FBP1c.865+46C= (n.865+46C=)
c.705+46C= (n.705+46C=)
c.510+46C= (n.510+46C=)
c.459+46C= (n.459+46C=)
9g.94606769G>TCA2690769322FBP1c.865+46C>A (n.865+46C>A)
c.705+46C>A (n.705+46C>A)
c.510+46C>A (n.510+46C>A)
c.459+46C>A (n.459+46C>A)
 gnomAD v4
9g.94606770C>ACA2690769323FBP1c.865+45G>T (n.865+45G>T)
c.705+45G>T (n.705+45G>T)
c.510+45G>T (n.510+45G>T)
c.459+45G>T (n.459+45G>T)
 gnomAD v4
9g.94606770C=CA1865226591FBP1c.865+45G= (n.865+45G=)
c.705+45G= (n.705+45G=)
c.510+45G= (n.510+45G=)
c.459+45G= (n.459+45G=)
9g.94606770C>GCA196553373FBP1c.865+45G>C (n.865+45G>C)
c.705+45G>C (n.705+45G>C)
c.510+45G>C (n.510+45G>C)
c.459+45G>C (n.459+45G>C)
 dbSNP
9g.94606770C>TCA2690769324FBP1c.865+45G>A (n.865+45G>A)
c.705+45G>A (n.705+45G>A)
c.510+45G>A (n.510+45G>A)
c.459+45G>A (n.459+45G>A)
 gnomAD v4
9g.94606772A>GCA2579387240FBP1c.865+43T>C (n.865+43T>C)
c.705+43T>C (n.705+43T>C)
c.510+43T>C (n.510+43T>C)
c.459+43T>C (n.459+43T>C)
9g.94606773G>CCA2690769325FBP1c.865+42C>G (n.865+42C>G)
c.705+42C>G (n.705+42C>G)
c.510+42C>G (n.510+42C>G)
c.459+42C>G (n.459+42C>G)
 gnomAD v4
9g.94606774A=CA1865226592FBP1c.865+41T= (n.865+41T=)
c.705+41T= (n.705+41T=)
c.510+41T= (n.510+41T=)
c.459+41T= (n.459+41T=)
9g.94606774A>GCA2690769326FBP1c.865+41T>C (n.865+41T>C)
c.705+41T>C (n.705+41T>C)
c.510+41T>C (n.510+41T>C)
c.459+41T>C (n.459+41T>C)
 gnomAD v4
9g.94606774A>TCA5136151FBP1c.865+41T>A (n.865+41T>A)
c.705+41T>A (n.705+41T>A)
c.510+41T>A (n.510+41T>A)
c.459+41T>A (n.459+41T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94606775T>CCA5136152FBP1c.865+40A>G (n.865+40A>G)
c.705+40A>G (n.705+40A>G)
c.510+40A>G (n.510+40A>G)
c.459+40A>G (n.459+40A>G)
 dbSNP ExAC
9g.94606775T>GCA2579387241FBP1c.865+40A>C (n.865+40A>C)
c.705+40A>C (n.705+40A>C)
c.510+40A>C (n.510+40A>C)
c.459+40A>C (n.459+40A>C)
 gnomAD v4
9g.94606775T=CA1865226593FBP1c.865+40A= (n.865+40A=)
c.705+40A= (n.705+40A=)
c.510+40A= (n.510+40A=)
c.459+40A= (n.459+40A=)
9g.94606776G>ACA2690769327FBP1c.865+39C>T (n.865+39C>T)
c.705+39C>T (n.705+39C>T)
c.510+39C>T (n.510+39C>T)
c.459+39C>T (n.459+39C>T)
 gnomAD v4
9g.94606776G>CCA2690769328FBP1c.865+39C>G (n.865+39C>G)
c.705+39C>G (n.705+39C>G)
c.510+39C>G (n.510+39C>G)
c.459+39C>G (n.459+39C>G)
 gnomAD v4
9g.94606776G>TCA2690769329FBP1c.865+39C>A (n.865+39C>A)
c.705+39C>A (n.705+39C>A)
c.510+39C>A (n.510+39C>A)
c.459+39C>A (n.459+39C>A)
 gnomAD v4
9g.94606777C=CA1865226594FBP1c.865+38G= (n.865+38G=)
c.705+38G= (n.705+38G=)
c.510+38G= (n.510+38G=)
c.459+38G= (n.459+38G=)
9g.94606777C>GCA589254774FBP1c.865+38G>C (n.865+38G>C)
c.705+38G>C (n.705+38G>C)
c.510+38G>C (n.510+38G>C)
c.459+38G>C (n.459+38G>C)
 dbSNP gnomAD v2
9g.94606777C>TCA2690769330FBP1c.865+38G>A (n.865+38G>A)
c.705+38G>A (n.705+38G>A)
c.510+38G>A (n.510+38G>A)
c.459+38G>A (n.459+38G>A)
 gnomAD v4
9g.94606778C>GCA2579387242FBP1c.865+37G>C (n.865+37G>C)
c.705+37G>C (n.705+37G>C)
c.510+37G>C (n.510+37G>C)
c.459+37G>C (n.459+37G>C)
9g.94606779C>ACA2690769331FBP1c.865+36G>T (n.865+36G>T)
c.705+36G>T (n.705+36G>T)
c.510+36G>T (n.510+36G>T)
c.459+36G>T (n.459+36G>T)
 gnomAD v4
9g.94606780A>CCA2690769332FBP1c.865+35T>G (n.865+35T>G)
c.705+35T>G (n.705+35T>G)
c.510+35T>G (n.510+35T>G)
c.459+35T>G (n.459+35T>G)
 gnomAD v4
9g.94606781G>CCA5136153FBP1c.865+34C>G (n.865+34C>G)
c.705+34C>G (n.705+34C>G)
c.510+34C>G (n.510+34C>G)
c.459+34C>G (n.459+34C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94606781G=CA1865226595FBP1c.865+34C= (n.865+34C=)
c.705+34C= (n.705+34C=)
c.510+34C= (n.510+34C=)
c.459+34C= (n.459+34C=)
9g.94606781G>TCA2690769333FBP1c.865+34C>A (n.865+34C>A)
c.705+34C>A (n.705+34C>A)
c.510+34C>A (n.510+34C>A)
c.459+34C>A (n.459+34C>A)
 gnomAD v4
9g.94606782A>CCA2720383540FBP1c.865+33T>G (n.865+33T>G)
c.705+33T>G (n.705+33T>G)
c.510+33T>G (n.510+33T>G)
c.459+33T>G (n.459+33T>G)
 dbSNP
9g.94606783A=CA1865226596FBP1c.865+32T= (n.865+32T=)
c.705+32T= (n.705+32T=)
c.510+32T= (n.510+32T=)
c.459+32T= (n.459+32T=)
9g.94606783A>GCA1865226597FBP1c.865+32T>C (n.865+32T>C)
c.705+32T>C (n.705+32T>C)
c.510+32T>C (n.510+32T>C)
c.459+32T>C (n.459+32T>C)
 dbSNP gnomAD v4
9g.94606784C>ACA589254776FBP1c.865+31G>T (n.865+31G>T)
c.705+31G>T (n.705+31G>T)
c.510+31G>T (n.510+31G>T)
c.459+31G>T (n.459+31G>T)
 dbSNP gnomAD v2 gnomAD v4
9g.94606784C=CA1865226598FBP1c.865+31G= (n.865+31G=)
c.705+31G= (n.705+31G=)
c.510+31G= (n.510+31G=)
c.459+31G= (n.459+31G=)
9g.94606785C>ACA2690769335FBP1c.865+30G>T (n.865+30G>T)
c.705+30G>T (n.705+30G>T)
c.510+30G>T (n.510+30G>T)
c.459+30G>T (n.459+30G>T)
 gnomAD v4
9g.94606785C>TCA2690769334FBP1c.865+30G>A (n.865+30G>A)
c.705+30G>A (n.705+30G>A)
c.510+30G>A (n.510+30G>A)
c.459+30G>A (n.459+30G>A)
 gnomAD v4
9g.94606785_94606787delinsCTGCA1865226599FBP1c.865+28_865+30delinsCAG (n.865+28_865+30delinsCAG)
c.705+28_705+30delinsCAG (n.705+28_705+30delinsCAG)
c.510+28_510+30delinsCAG (n.510+28_510+30delinsCAG)
c.459+28_459+30delinsCAG (n.459+28_459+30delinsCAG)
9g.94606786_94606787delCA589254778FBP1c.865+28_865+29del (n.865+28_865+29del)
c.705+28_705+29del (n.705+28_705+29del)
c.510+28_510+29del (n.510+28_510+29del)
c.459+28_459+29del (n.459+28_459+29del)
 dbSNP gnomAD v2 gnomAD v4
9g.94606787G>ACA2690769336FBP1c.865+28C>T (n.865+28C>T)
c.705+28C>T (n.705+28C>T)
c.510+28C>T (n.510+28C>T)
c.459+28C>T (n.459+28C>T)
 gnomAD v4
9g.94606787G=CA1865226600FBP1c.865+28C= (n.865+28C=)
c.705+28C= (n.705+28C=)
c.510+28C= (n.510+28C=)
c.459+28C= (n.459+28C=)
9g.94606787G>TCA868728147FBP1c.865+28C>A (n.865+28C>A)
c.705+28C>A (n.705+28C>A)
c.510+28C>A (n.510+28C>A)
c.459+28C>A (n.459+28C>A)
 dbSNP gnomAD v4
9g.94606788C=CA1865226601FBP1c.865+27G= (n.865+27G=)
c.705+27G= (n.705+27G=)
c.510+27G= (n.510+27G=)
c.459+27G= (n.459+27G=)
9g.94606788C>TCA868728149FBP1c.865+27G>A (n.865+27G>A)
c.705+27G>A (n.705+27G>A)
c.510+27G>A (n.510+27G>A)
c.459+27G>A (n.459+27G>A)
 dbSNP gnomAD v4
9g.94606788_94606789insCTCA589254780FBP1c.865+26_865+27insAG (n.865+26_865+27insAG)
c.705+26_705+27insAG (n.705+26_705+27insAG)
c.510+26_510+27insAG (n.510+26_510+27insAG)
c.459+26_459+27insAG (n.459+26_459+27insAG)
 dbSNP gnomAD v2 gnomAD v4
9g.94606789A>GCA2690769337FBP1c.865+26T>C (n.865+26T>C)
c.705+26T>C (n.705+26T>C)
c.510+26T>C (n.510+26T>C)
c.459+26T>C (n.459+26T>C)
 gnomAD v4
9g.94606790C=CA1865226602FBP1c.865+25G= (n.865+25G=)
c.705+25G= (n.705+25G=)
c.510+25G= (n.510+25G=)
c.459+25G= (n.459+25G=)
9g.94606790C>GCA5136154FBP1c.865+25G>C (n.865+25G>C)
c.705+25G>C (n.705+25G>C)
c.510+25G>C (n.510+25G>C)
c.459+25G>C (n.459+25G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94606791C>TCA2690769338FBP1c.865+24G>A (n.865+24G>A)
c.705+24G>A (n.705+24G>A)
c.510+24G>A (n.510+24G>A)
c.459+24G>A (n.459+24G>A)
 gnomAD v4
9g.94606792_94606793delinsACCA1865226603FBP1c.865+22_865+23delinsGT (n.865+22_865+23delinsGT)
c.705+22_705+23delinsGT (n.705+22_705+23delinsGT)
c.510+22_510+23delinsGT (n.510+22_510+23delinsGT)
c.459+22_459+23delinsGT (n.459+22_459+23delinsGT)
9g.94606795delCA5136155FBP1c.865+22del (n.865+22del)
c.705+22del (n.705+22del)
c.510+22del (n.510+22del)
c.459+22del (n.459+22del)
 dbSNP ExAC
9g.94606794C>ACA5136156FBP1c.865+21G>T (n.865+21G>T)
c.705+21G>T (n.705+21G>T)
c.510+21G>T (n.510+21G>T)
c.459+21G>T (n.459+21G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94606794C=CA1865226604FBP1c.865+21G= (n.865+21G=)
c.705+21G= (n.705+21G=)
c.510+21G= (n.510+21G=)
c.459+21G= (n.459+21G=)
9g.94606794C>TCA868728158FBP1c.865+21G>A (n.865+21G>A)
c.705+21G>A (n.705+21G>A)
c.510+21G>A (n.510+21G>A)
c.459+21G>A (n.459+21G>A)
 dbSNP gnomAD v3 gnomAD v4
9g.94606795C>ACA868728160FBP1c.865+20G>T (n.865+20G>T)
c.705+20G>T (n.705+20G>T)
c.510+20G>T (n.510+20G>T)
c.459+20G>T (n.459+20G>T)
 dbSNP gnomAD v3 gnomAD v4
9g.94606795C=CA1865226605FBP1c.865+20G= (n.865+20G=)
c.705+20G= (n.705+20G=)
c.510+20G= (n.510+20G=)
c.459+20G= (n.459+20G=)
9g.94606795C>TCA589254784FBP1c.865+20G>A (n.865+20G>A)
c.705+20G>A (n.705+20G>A)
c.510+20G>A (n.510+20G>A)
c.459+20G>A (n.459+20G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94606797C>ACA653182105FBP1c.865+18G>T (n.865+18G>T)
c.705+18G>T (n.705+18G>T)
c.510+18G>T (n.510+18G>T)
c.459+18G>T (n.459+18G>T)
 COSMIC
9g.94606797C=CA1865226606FBP1c.865+18G= (n.865+18G=)
c.705+18G= (n.705+18G=)
c.510+18G= (n.510+18G=)
c.459+18G= (n.459+18G=)
9g.94606797C>TCA5136157FBP1c.865+18G>A (n.865+18G>A)
c.705+18G>A (n.705+18G>A)
c.510+18G>A (n.510+18G>A)
c.459+18G>A (n.459+18G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94606798C>TCA653182106FBP1c.865+17G>A (n.865+17G>A)
c.705+17G>A (n.705+17G>A)
c.510+17G>A (n.510+17G>A)
c.459+17G>A (n.459+17G>A)
 COSMIC
9g.94606799C=CA1865226607FBP1c.865+16G= (n.865+16G=)
c.705+16G= (n.705+16G=)
c.510+16G= (n.510+16G=)
c.459+16G= (n.459+16G=)
9g.94606799C>GCA196553418FBP1c.865+16G>C (n.865+16G>C)
c.705+16G>C (n.705+16G>C)
c.510+16G>C (n.510+16G>C)
c.459+16G>C (n.459+16G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94606799C>TCA2690769339FBP1c.865+16G>A (n.865+16G>A)
c.705+16G>A (n.705+16G>A)
c.510+16G>A (n.510+16G>A)
c.459+16G>A (n.459+16G>A)
 gnomAD v4
9g.94606800C>ACA5136158FBP1c.865+15G>T (n.865+15G>T)
c.705+15G>T (n.705+15G>T)
c.510+15G>T (n.510+15G>T)
c.459+15G>T (n.459+15G>T)
 dbSNP ExAC
9g.94606800C=CA1865226608FBP1c.865+15G= (n.865+15G=)
c.705+15G= (n.705+15G=)
c.510+15G= (n.510+15G=)
c.459+15G= (n.459+15G=)
9g.94606800C>GCA2690769340FBP1c.865+15G>C (n.865+15G>C)
c.705+15G>C (n.705+15G>C)
c.510+15G>C (n.510+15G>C)
c.459+15G>C (n.459+15G>C)
 gnomAD v4
9g.94606800C>TCA589254788FBP1c.865+15G>A (n.865+15G>A)
c.705+15G>A (n.705+15G>A)
c.510+15G>A (n.510+15G>A)
c.459+15G>A (n.459+15G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94606801G>ACA5136159FBP1c.865+14C>T (n.865+14C>T)
c.705+14C>T (n.705+14C>T)
c.510+14C>T (n.510+14C>T)
c.459+14C>T (n.459+14C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94606801G>CCA1865226609FBP1c.865+14C>G (n.865+14C>G)
c.705+14C>G (n.705+14C>G)
c.510+14C>G (n.510+14C>G)
c.459+14C>G (n.459+14C>G)
 ClinVar dbSNP gnomAD v4
9g.94606801G=CA1630847868FBP1c.865+14C= (n.865+14C=)
c.705+14C= (n.705+14C=)
c.510+14C= (n.510+14C=)
c.459+14C= (n.459+14C=)
9g.94606801G>TCA2580883829FBP1c.865+14C>A (n.865+14C>A)
c.705+14C>A (n.705+14C>A)
c.510+14C>A (n.510+14C>A)
c.459+14C>A (n.459+14C>A)
9g.94606803G=CA1865226610FBP1c.865+12C= (n.865+12C=)
c.705+12C= (n.705+12C=)
c.510+12C= (n.510+12C=)
c.459+12C= (n.459+12C=)
9g.94606803G>TCA589254792FBP1c.865+12C>A (n.865+12C>A)
c.705+12C>A (n.705+12C>A)
c.510+12C>A (n.510+12C>A)
c.459+12C>A (n.459+12C>A)
 dbSNP gnomAD v2 gnomAD v4
9g.94606804C>ACA589254793FBP1c.865+11G>T (n.865+11G>T)
c.705+11G>T (n.705+11G>T)
c.510+11G>T (n.510+11G>T)
c.459+11G>T (n.459+11G>T)
 dbSNP gnomAD v2 gnomAD v4
9g.94606804C=CA1865226611FBP1c.865+11G= (n.865+11G=)
c.705+11G= (n.705+11G=)
c.510+11G= (n.510+11G=)
c.459+11G= (n.459+11G=)
9g.94606805_94606831delCA2600260535FBP1c.850_865+11del
c.690_705+11del
c.495_510+11del
c.444_459+11del
 gnomAD v3 gnomAD v4
9g.94606805C=CA1865226612FBP1c.865+10G= (n.865+10G=)
c.705+10G= (n.705+10G=)
c.510+10G= (n.510+10G=)
c.459+10G= (n.459+10G=)
9g.94606805C>TCA868728189FBP1c.865+10G>A (n.865+10G>A)
c.705+10G>A (n.705+10G>A)
c.510+10G>A (n.510+10G>A)
c.459+10G>A (n.459+10G>A)
 dbSNP gnomAD v3 gnomAD v4
9g.94606806C=CA1865226613FBP1c.865+9G= (n.865+9G=)
c.705+9G= (n.705+9G=)
c.510+9G= (n.510+9G=)
c.459+9G= (n.459+9G=)
9g.94606806C>GCA1865226614FBP1c.865+9G>C (n.865+9G>C)
c.705+9G>C (n.705+9G>C)
c.510+9G>C (n.510+9G>C)
c.459+9G>C (n.459+9G>C)
 ClinVar dbSNP
9g.94606809A>GCA2579387243FBP1c.865+6T>C (n.865+6T>C)
c.705+6T>C (n.705+6T>C)
c.510+6T>C (n.510+6T>C)
c.459+6T>C (n.459+6T>C)
9g.94606810C>TCA2499220006FBP1c.865+5G>A (n.865+5G>A)
c.705+5G>A (n.705+5G>A)
c.510+5G>A (n.510+5G>A)
c.459+5G>A (n.459+5G>A)
 ClinVar dbSNP gnomAD v4
9g.94606811T>CCA1126930717FBP1c.865+4A>G (n.865+4A>G)
c.705+4A>G (n.705+4A>G)
c.510+4A>G (n.510+4A>G)
c.459+4A>G (n.459+4A>G)
 dbSNP gnomAD v3 gnomAD v4
9g.94606811T=CA1865226615FBP1c.865+4A= (n.865+4A=)
c.705+4A= (n.705+4A=)
c.510+4A= (n.510+4A=)
c.459+4A= (n.459+4A=)
9g.94606812T>CCA2690769341FBP1c.865+3A>G (n.865+3A>G)
c.705+3A>G (n.705+3A>G)
c.510+3A>G (n.510+3A>G)
c.459+3A>G (n.459+3A>G)
 gnomAD v4
9g.94606812T>GCA2690769342FBP1c.865+3A>C (n.865+3A>C)
c.705+3A>C (n.705+3A>C)
c.510+3A>C (n.510+3A>C)
c.459+3A>C (n.459+3A>C)
 gnomAD v4
9g.94606813A>CCA374106563FBP1c.865+2T>G (n.865+2T>G)
c.705+2T>G (n.705+2T>G)
c.510+2T>G (n.510+2T>G)
c.459+2T>G (n.459+2T>G)
9g.94606813A>GCA374106564FBP1c.865+2T>C (n.865+2T>C)
c.705+2T>C (n.705+2T>C)
c.510+2T>C (n.510+2T>C)
c.459+2T>C (n.459+2T>C)
9g.94606813A>TCA374106565FBP1c.865+2T>A (n.865+2T>A)
c.705+2T>A (n.705+2T>A)
c.510+2T>A (n.510+2T>A)
c.459+2T>A (n.459+2T>A)
9g.94606814C>ACA374106566FBP1c.865+1G>T (n.865+1G>T)
c.705+1G>T (n.705+1G>T)
c.510+1G>T (n.510+1G>T)
c.459+1G>T (n.459+1G>T)
9g.94606814C>GCA374106567FBP1c.865+1G>C (n.865+1G>C)
c.705+1G>C (n.705+1G>C)
c.510+1G>C (n.510+1G>C)
c.459+1G>C (n.459+1G>C)
9g.94606814C>TCA374106568FBP1c.865+1G>A (n.865+1G>A)
c.705+1G>A (n.705+1G>A)
c.510+1G>A (n.510+1G>A)
c.459+1G>A (n.459+1G>A)
 gnomAD v4
9g.94606815T>ACA196553449FBP1c.865A>T (n.865A>T)
c.705A>T (p.Pro235=)
c.510A>T (p.Pro170=)
c.453A>T (p.Pro151=)
c.459A>T (p.Pro153=)
 dbSNP
9g.94606815T>CCA5136161FBP1c.865A>G (n.865A>G)
c.705A>G (p.Pro235=)
c.510A>G (p.Pro170=)
c.453A>G (p.Pro151=)
c.459A>G (p.Pro153=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94606815T>GCA196553428FBP1c.865A>C (n.865A>C)
c.705A>C (p.Pro235=)
c.510A>C (p.Pro170=)
c.453A>C (p.Pro151=)
c.459A>C (p.Pro153=)
 dbSNP gnomAD v4
9g.94606815T=CA1865226616FBP1c.865A= (n.865A=)
c.705A= (p.Pro235=)
c.510A= (p.Pro170=)
c.453A= (p.Pro151=)
c.459A= (p.Pro153=)
9g.94606815_94606817delinsTGGCA1865226617FBP1c.863_865delinsCCA (n.863_865delinsCCA)
c.703_705delinsCCA (p.Pro235=)
c.508_510delinsCCA (p.Pro170=)
c.451_453delinsCCA (p.Pro151=)
c.457_459delinsCCA (p.Pro153=)
9g.94606816G>ACA5136163FBP1c.864C>T (n.864C>T)
c.704C>T (p.Pro235Leu)
c.509C>T (p.Pro170Leu)
c.452C>T (p.Pro151Leu)
c.458C>T (p.Pro153Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94606816G>CCA5136164FBP1c.864C>G (n.864C>G)
c.704C>G (p.Pro235Arg)
c.509C>G (p.Pro170Arg)
c.452C>G (p.Pro151Arg)
c.458C>G (p.Pro153Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94606816G=CA1865226619FBP1c.864C= (n.864C=)
c.704C= (p.Pro235=)
c.509C= (p.Pro170=)
c.452C= (p.Pro151=)
c.458C= (p.Pro153=)
9g.94606816G>TCA5136162FBP1c.864C>A (n.864C>A)
c.704C>A (p.Pro235Gln)
c.509C>A (p.Pro170Gln)
c.452C>A (p.Pro151Gln)
c.458C>A (p.Pro153Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94606821dupCA5136160FBP1c.864dup (n.864dup)
c.704dup (p.Asp236ArgfsTer2)
c.509dup (p.Asp171ArgfsTer2)
c.452dup (p.Pro151=)
c.458dup (p.Asp154ArgfsTer2)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94606821delCA16609831FBP1c.864del (n.864del)
c.704del (p.Pro235GlnfsTer?)
c.509del (p.Pro170GlnfsTer?)
c.452del (p.Pro151=)
c.458del (p.Pro153GlnfsTer?)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.94606820_94606821delCA1865226618FBP1c.863_864del (n.863_864del)
c.703_704del (p.Pro235ArgfsTer2)
c.508_509del (p.Pro170ArgfsTer2)
c.451_452del (p.Pro151=)
c.457_458del (p.Pro153ArgfsTer2)
 dbSNP gnomAD v4
9g.94606817G>ACA196553470FBP1c.863C>T (n.863C>T)
c.703C>T (p.Pro235Ser)
c.508C>T (p.Pro170Ser)
c.451C>T (p.Pro151Ser)
c.457C>T (p.Pro153Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94606817G>CCA374106569FBP1c.863C>G (n.863C>G)
c.703C>G (p.Pro235Ala)
c.508C>G (p.Pro170Ala)
c.451C>G (p.Pro151Ala)
c.457C>G (p.Pro153Ala)
 gnomAD v4
9g.94606817G=CA1865226620FBP1c.863C= (n.863C=)
c.703C= (p.Pro235=)
c.508C= (p.Pro170=)
c.451C= (p.Pro151=)
c.457C= (p.Pro153=)
9g.94606817G>TCA374106570FBP1c.863C>A (n.863C>A)
c.703C>A (p.Pro235Thr)
c.508C>A (p.Pro170Thr)
c.451C>A (p.Pro151Thr)
c.457C>A (p.Pro153Thr)
 gnomAD v4
9g.94606818G>ACA466099920FBP1c.862C>T (n.862C>T)
c.702C>T (p.Pro234=)
c.507C>T (p.Pro169=)
c.450C>T (p.Pro150=)
c.456C>T (p.Pro152=)
 gnomAD v4
9g.94606818G>CCA466099918FBP1c.862C>G (n.862C>G)
c.702C>G (p.Pro234=)
c.507C>G (p.Pro169=)
c.450C>G (p.Pro150=)
c.456C>G (p.Pro152=)
 dbSNP gnomAD v2 gnomAD v4
9g.94606818G=CA1865226621FBP1c.862C= (n.862C=)
c.702C= (p.Pro234=)
c.507C= (p.Pro169=)
c.450C= (p.Pro150=)
c.456C= (p.Pro152=)
9g.94606818G>TCA466099919FBP1c.862C>A (n.862C>A)
c.702C>A (p.Pro234=)
c.507C>A (p.Pro169=)
c.450C>A (p.Pro150=)
c.456C>A (p.Pro152=)
 gnomAD v4
9g.94606819G>ACA374106571FBP1c.861C>T (n.861C>T)
c.701C>T (p.Pro234Leu)
c.506C>T (p.Pro169Leu)
c.449C>T (p.Pro150Leu)
c.455C>T (p.Pro152Leu)
 gnomAD v4
9g.94606819G>CCA374106572FBP1c.861C>G (n.861C>G)
c.701C>G (p.Pro234Arg)
c.506C>G (p.Pro169Arg)
c.449C>G (p.Pro150Arg)
c.455C>G (p.Pro152Arg)
9g.94606819G>TCA374106573FBP1c.861C>A (n.861C>A)
c.701C>A (p.Pro234His)
c.506C>A (p.Pro169His)
c.449C>A (p.Pro150His)
c.455C>A (p.Pro152His)
9g.94606820G>ACA374106574FBP1c.860C>T (n.860C>T)
c.700C>T (p.Pro234Ser)
c.505C>T (p.Pro169Ser)
c.448C>T (p.Pro150Ser)
c.454C>T (p.Pro152Ser)
 dbSNP gnomAD v2 gnomAD v4
9g.94606820G>CCA374106575FBP1c.860C>G (n.860C>G)
c.700C>G (p.Pro234Ala)
c.505C>G (p.Pro169Ala)
c.448C>G (p.Pro150Ala)
c.454C>G (p.Pro152Ala)
9g.94606820G=CA1865226622FBP1c.860C= (n.860C=)
c.700C= (p.Pro234=)
c.505C= (p.Pro169=)
c.448C= (p.Pro150=)
c.454C= (p.Pro152=)
9g.94606820G>TCA374106576FBP1c.860C>A (n.860C>A)
c.700C>A (p.Pro234Thr)
c.505C>A (p.Pro169Thr)
c.448C>A (p.Pro150Thr)
c.454C>A (p.Pro152Thr)
9g.94606821G>ACA5136165FBP1c.859C>T (n.859C>T)
c.699C>T (p.Phe233=)
c.504C>T (p.Phe168=)
c.447C>T (p.Phe149=)
c.453C>T (p.Phe151=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.94606821G>CCA374106577FBP1c.859C>G (n.859C>G)
c.699C>G (p.Phe233Leu)
c.504C>G (p.Phe168Leu)
c.447C>G (p.Phe149Leu)
c.453C>G (p.Phe151Leu)
9g.94606821G=CA1865226623FBP1c.859C= (n.859C=)
c.699C= (p.Phe233=)
c.504C= (p.Phe168=)
c.447C= (p.Phe149=)
c.453C= (p.Phe151=)
9g.94606821G>TCA374106578FBP1c.859C>A (n.859C>A)
c.699C>A (p.Phe233Leu)
c.504C>A (p.Phe168Leu)
c.447C>A (p.Phe149Leu)
c.453C>A (p.Phe151Leu)
9g.94606821_94606822delinsGACA1865226624FBP1c.858_859delinsTC (n.858_859delinsTC)
c.698_699delinsTC (p.Phe233=)
c.503_504delinsTC (p.Phe168=)
c.446_447delinsTC (p.Phe149=)
c.452_453delinsTC (p.Phe151=)
9g.94606822A>CCA374106581FBP1c.858T>G (n.858T>G)
c.698T>G (p.Phe233Cys)
c.503T>G (p.Phe168Cys)
c.446T>G (p.Phe149Cys)
c.452T>G (p.Phe151Cys)
9g.94606822A>GCA374106580FBP1c.858T>C (n.858T>C)
c.698T>C (p.Phe233Ser)
c.503T>C (p.Phe168Ser)
c.446T>C (p.Phe149Ser)
c.452T>C (p.Phe151Ser)
9g.94606822A>TCA374106579FBP1c.858T>A (n.858T>A)
c.698T>A (p.Phe233Tyr)
c.503T>A (p.Phe168Tyr)
c.446T>A (p.Phe149Tyr)
c.452T>A (p.Phe151Tyr)
9g.94606823delCA1865226625FBP1c.858del (n.858del)
c.698del (p.Phe233SerfsTer?)
c.503del (p.Phe168SerfsTer?)
c.446del (p.Phe149SerfsTer?)
c.452del (p.Phe151SerfsTer?)
 dbSNP
9g.94606823A=CA1865226626FBP1c.857T= (n.857T=)
c.697T= (p.Phe233=)
c.502T= (p.Phe168=)
c.445T= (p.Phe149=)
c.451T= (p.Phe151=)
9g.94606823A>CCA5136167FBP1c.857T>G (n.857T>G)
c.697T>G (p.Phe233Val)
c.502T>G (p.Phe168Val)
c.445T>G (p.Phe149Val)
c.451T>G (p.Phe151Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94606823A>GCA5136166FBP1c.857T>C (n.857T>C)
c.697T>C (p.Phe233Leu)
c.502T>C (p.Phe168Leu)
c.445T>C (p.Phe149Leu)
c.451T>C (p.Phe151Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94606823A>TCA290921FBP1c.857T>A (n.857T>A)
c.697T>A (p.Phe233Ile)
c.502T>A (p.Phe168Ile)
c.445T>A (p.Phe149Ile)
c.451T>A (p.Phe151Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94606824C>ACA374106583FBP1c.856G>T (n.856G>T)
c.696G>T (p.Lys232Asn)
c.501G>T (p.Lys167Asn)
c.444G>T (p.Lys148Asn)
c.450G>T (p.Lys150Asn)
9g.94606824C=CA1865226627FBP1c.856G= (n.856G=)
c.696G= (p.Lys232=)
c.501G= (p.Lys167=)
c.444G= (p.Lys148=)
c.450G= (p.Lys150=)
9g.94606824C>GCA374106585FBP1c.856G>C (n.856G>C)
c.696G>C (p.Lys232Asn)
c.501G>C (p.Lys167Asn)
c.444G>C (p.Lys148Asn)
c.450G>C (p.Lys150Asn)
 dbSNP
9g.94606824C>TCA466099921FBP1c.856G>A (n.856G>A)
c.696G>A (p.Lys232=)
c.501G>A (p.Lys167=)
c.444G>A (p.Lys148=)
c.450G>A (p.Lys150=)
9g.94606825T>ACA374106587FBP1c.855A>T (n.855A>T)
c.695A>T (p.Lys232Met)
c.500A>T (p.Lys167Met)
c.443A>T (p.Lys148Met)
c.449A>T (p.Lys150Met)
9g.94606825T>CCA374106589FBP1c.855A>G (n.855A>G)
c.695A>G (p.Lys232Arg)
c.500A>G (p.Lys167Arg)
c.443A>G (p.Lys148Arg)
c.449A>G (p.Lys150Arg)
9g.94606825T>GCA374106591FBP1c.855A>C (n.855A>C)
c.695A>C (p.Lys232Thr)
c.500A>C (p.Lys167Thr)
c.443A>C (p.Lys148Thr)
c.449A>C (p.Lys150Thr)
9g.94606826T>ACA374106592FBP1c.854A>T (n.854A>T)
c.694A>T (p.Lys232Ter)
c.499A>T (p.Lys167Ter)
c.442A>T (p.Lys148Ter)
c.448A>T (p.Lys150Ter)
 dbSNP
9g.94606826T>CCA374106594FBP1c.854A>G (n.854A>G)
c.694A>G (p.Lys232Glu)
c.499A>G (p.Lys167Glu)
c.442A>G (p.Lys148Glu)
c.448A>G (p.Lys150Glu)
9g.94606826T>GCA374106596FBP1c.854A>C (n.854A>C)
c.694A>C (p.Lys232Gln)
c.499A>C (p.Lys167Gln)
c.442A>C (p.Lys148Gln)
c.448A>C (p.Lys150Gln)
9g.94606826T=CA1865226628FBP1c.854A= (n.854A=)
c.694A= (p.Lys232=)
c.499A= (p.Lys167=)
c.442A= (p.Lys148=)
c.448A= (p.Lys150=)
9g.94606827C>ACA374106598FBP1c.853G>T (n.853G>T)
c.693G>T (p.Lys231Asn)
c.498G>T (p.Lys166Asn)
c.441G>T (p.Lys147Asn)
c.447G>T (p.Lys149Asn)
9g.94606827C>GCA374106599FBP1c.853G>C (n.853G>C)
c.693G>C (p.Lys231Asn)
c.498G>C (p.Lys166Asn)
c.441G>C (p.Lys147Asn)
c.447G>C (p.Lys149Asn)
9g.94606827C>TCA466099922FBP1c.853G>A (n.853G>A)
c.693G>A (p.Lys231=)
c.498G>A (p.Lys166=)
c.441G>A (p.Lys147=)
c.447G>A (p.Lys149=)
 COSMIC
9g.94606828T>ACA374106604FBP1c.852A>T (n.852A>T)
c.692A>T (p.Lys231Met)
c.497A>T (p.Lys166Met)
c.440A>T (p.Lys147Met)
c.446A>T (p.Lys149Met)
9g.94606828T>CCA374106602FBP1c.852A>G (n.852A>G)
c.692A>G (p.Lys231Arg)
c.497A>G (p.Lys166Arg)
c.440A>G (p.Lys147Arg)
c.446A>G (p.Lys149Arg)
9g.94606828T>GCA374106600FBP1c.852A>C (n.852A>C)
c.692A>C (p.Lys231Thr)
c.497A>C (p.Lys166Thr)
c.440A>C (p.Lys147Thr)
c.446A>C (p.Lys149Thr)
9g.94606829T>ACA374106606FBP1c.851A>T (n.851A>T)
c.691A>T (p.Lys231Ter)
c.496A>T (p.Lys166Ter)
c.439A>T (p.Lys147Ter)
c.445A>T (p.Lys149Ter)
9g.94606829T>CCA374106607FBP1c.851A>G (n.851A>G)
c.691A>G (p.Lys231Glu)
c.496A>G (p.Lys166Glu)
c.439A>G (p.Lys147Glu)
c.445A>G (p.Lys149Glu)
9g.94606829T>GCA374106609FBP1c.851A>C (n.851A>C)
c.691A>C (p.Lys231Gln)
c.496A>C (p.Lys166Gln)
c.439A>C (p.Lys147Gln)
c.445A>C (p.Lys149Gln)
9g.94606830C>ACA374106612FBP1c.850G>T (n.850G>T)
c.690G>T (p.Arg230Ser)
c.495G>T (p.Arg165Ser)
c.438G>T (p.Arg146Ser)
c.444G>T (p.Arg148Ser)
9g.94606830C>GCA374106613FBP1c.850G>C (n.850G>C)
c.690G>C (p.Arg230Ser)
c.495G>C (p.Arg165Ser)
c.438G>C (p.Arg146Ser)
c.444G>C (p.Arg148Ser)
9g.94606830C>TCA466099923FBP1c.850G>A (n.850G>A)
c.690G>A (p.Arg230=)
c.495G>A (p.Arg165=)
c.438G>A (p.Arg146=)
c.444G>A (p.Arg148=)
9g.94606831C>ACA374106616FBP1c.849G>T (n.849G>T)
c.689G>T (p.Arg230Met)
c.494G>T (p.Arg165Met)
c.437G>T (p.Arg146Met)
c.443G>T (p.Arg148Met)
9g.94606831C>GCA374106618FBP1c.849G>C (n.849G>C)
c.689G>C (p.Arg230Thr)
c.494G>C (p.Arg165Thr)
c.437G>C (p.Arg146Thr)
c.443G>C (p.Arg148Thr)
9g.94606831C>TCA374106620FBP1c.849G>A (n.849G>A)
c.689G>A (p.Arg230Lys)
c.494G>A (p.Arg165Lys)
c.437G>A (p.Arg146Lys)
c.443G>A (p.Arg148Lys)
9g.94606832T>ACA374106622FBP1c.848A>T (n.848A>T)
c.688A>T (p.Arg230Trp)
c.493A>T (p.Arg165Trp)
c.436A>T (p.Arg146Trp)
c.442A>T (p.Arg148Trp)
9g.94606832T>CCA374106624FBP1c.848A>G (n.848A>G)
c.688A>G (p.Arg230Gly)
c.493A>G (p.Arg165Gly)
c.436A>G (p.Arg146Gly)
c.442A>G (p.Arg148Gly)
9g.94606832T>GCA466099957FBP1c.848A>C (n.848A>C)
c.688A>C (p.Arg230=)
c.493A>C (p.Arg165=)
c.436A>C (p.Arg146=)
c.442A>C (p.Arg148=)
 gnomAD v4
9g.94606833C>ACA374106626FBP1c.847G>T (n.847G>T)
c.687G>T (p.Gln229His)
c.492G>T (p.Gln164His)
c.435G>T (p.Gln145His)
c.441G>T (p.Gln147His)
9g.94606833C>GCA374106627FBP1c.847G>C (n.847G>C)
c.687G>C (p.Gln229His)
c.492G>C (p.Gln164His)
c.435G>C (p.Gln145His)
c.441G>C (p.Gln147His)
9g.94606833C>TCA466099958FBP1c.847G>A (n.847G>A)
c.687G>A (p.Gln229=)
c.492G>A (p.Gln164=)
c.435G>A (p.Gln145=)
c.441G>A (p.Gln147=)
9g.94606834T>ACA374106631FBP1c.846A>T (n.846A>T)
c.686A>T (p.Gln229Leu)
c.491A>T (p.Gln164Leu)
c.434A>T (p.Gln145Leu)
c.440A>T (p.Gln147Leu)
9g.94606834T>CCA374106633FBP1c.846A>G (n.846A>G)
c.686A>G (p.Gln229Arg)
c.491A>G (p.Gln164Arg)
c.434A>G (p.Gln145Arg)
c.440A>G (p.Gln147Arg)
9g.94606834T>GCA374106629FBP1c.846A>C (n.846A>C)
c.686A>C (p.Gln229Pro)
c.491A>C (p.Gln164Pro)
c.434A>C (p.Gln145Pro)
c.440A>C (p.Gln147Pro)
9g.94606835G>ACA374106635FBP1c.845C>T (n.845C>T)
c.685C>T (p.Gln229Ter)
c.490C>T (p.Gln164Ter)
c.433C>T (p.Gln145Ter)
c.439C>T (p.Gln147Ter)
 gnomAD v4 COSMIC
9g.94606835G>CCA374106637FBP1c.845C>G (n.845C>G)
c.685C>G (p.Gln229Glu)
c.490C>G (p.Gln164Glu)
c.433C>G (p.Gln145Glu)
c.439C>G (p.Gln147Glu)
9g.94606835G>TCA374106639FBP1c.845C>A (n.845C>A)
c.685C>A (p.Gln229Lys)
c.490C>A (p.Gln164Lys)
c.433C>A (p.Gln145Lys)
c.439C>A (p.Gln147Lys)
9g.94606836G>ACA466099959FBP1c.844C>T (n.844C>T)
c.684C>T (p.Ile228=)
c.489C>T (p.Ile163=)
c.432C>T (p.Ile144=)
c.438C>T (p.Ile146=)
9g.94606836G>CCA374106640FBP1c.844C>G (n.844C>G)
c.684C>G (p.Ile228Met)
c.489C>G (p.Ile163Met)
c.432C>G (p.Ile144Met)
c.438C>G (p.Ile146Met)
9g.94606836G>TCA466099960FBP1c.844C>A (n.844C>A)
c.684C>A (p.Ile228=)
c.489C>A (p.Ile163=)
c.432C>A (p.Ile144=)
c.438C>A (p.Ile146=)
9g.94606837A>CCA374106642FBP1c.843T>G (n.843T>G)
c.683T>G (p.Ile228Ser)
c.488T>G (p.Ile163Ser)
c.431T>G (p.Ile144Ser)
c.437T>G (p.Ile146Ser)
9g.94606837A>GCA374106647FBP1c.843T>C (n.843T>C)
c.683T>C (p.Ile228Thr)
c.488T>C (p.Ile163Thr)
c.431T>C (p.Ile144Thr)
c.437T>C (p.Ile146Thr)
9g.94606837A>TCA374106649FBP1c.843T>A (n.843T>A)
c.683T>A (p.Ile228Asn)
c.488T>A (p.Ile163Asn)
c.431T>A (p.Ile144Asn)
c.437T>A (p.Ile146Asn)
9g.94606838T>ACA374106651FBP1c.842A>T (n.842A>T)
c.682A>T (p.Ile228Phe)
c.487A>T (p.Ile163Phe)
c.430A>T (p.Ile144Phe)
c.436A>T (p.Ile146Phe)
9g.94606838T>CCA374106653FBP1c.842A>G (n.842A>G)
c.682A>G (p.Ile228Val)
c.487A>G (p.Ile163Val)
c.430A>G (p.Ile144Val)
c.436A>G (p.Ile146Val)
9g.94606838T>GCA374106654FBP1c.842A>C (n.842A>C)
c.682A>C (p.Ile228Leu)
c.487A>C (p.Ile163Leu)
c.430A>C (p.Ile144Leu)
c.436A>C (p.Ile146Leu)
 gnomAD v4
9g.94606839G>ACA466099961FBP1c.841C>T (n.841C>T)
c.681C>T (p.Tyr227=)
c.486C>T (p.Tyr162=)
c.429C>T (p.Tyr143=)
c.435C>T (p.Tyr145=)
 dbSNP gnomAD v3 gnomAD v4
9g.94606839G>CCA374106656FBP1c.841C>G (n.841C>G)
c.681C>G (p.Tyr227Ter)
c.486C>G (p.Tyr162Ter)
c.429C>G (p.Tyr143Ter)
c.435C>G (p.Tyr145Ter)
9g.94606839G=CA1865226629FBP1c.841C= (n.841C=)
c.681C= (p.Tyr227=)
c.486C= (p.Tyr162=)
c.429C= (p.Tyr143=)
c.435C= (p.Tyr145=)
9g.94606839G>TCA374106658FBP1c.841C>A (n.841C>A)
c.681C>A (p.Tyr227Ter)
c.486C>A (p.Tyr162Ter)
c.429C>A (p.Tyr143Ter)
c.435C>A (p.Tyr145Ter)
9g.94606840T>ACA374106662FBP1c.840A>T (n.840A>T)
c.680A>T (p.Tyr227Phe)
c.485A>T (p.Tyr162Phe)
c.428A>T (p.Tyr143Phe)
c.434A>T (p.Tyr145Phe)
9g.94606840T>CCA374106664FBP1c.840A>G (n.840A>G)
c.680A>G (p.Tyr227Cys)
c.485A>G (p.Tyr162Cys)
c.428A>G (p.Tyr143Cys)
c.434A>G (p.Tyr145Cys)
9g.94606840T>GCA374106660FBP1c.840A>C (n.840A>C)
c.680A>C (p.Tyr227Ser)
c.485A>C (p.Tyr162Ser)
c.428A>C (p.Tyr143Ser)
c.434A>C (p.Tyr145Ser)
9g.94606841A>CCA374106666FBP1c.839T>G (n.839T>G)
c.679T>G (p.Tyr227Asp)
c.484T>G (p.Tyr162Asp)
c.427T>G (p.Tyr143Asp)
c.433T>G (p.Tyr145Asp)
9g.94606841A>GCA374106668FBP1c.839T>C (n.839T>C)
c.679T>C (p.Tyr227His)
c.484T>C (p.Tyr162His)
c.427T>C (p.Tyr143His)
c.433T>C (p.Tyr145His)
9g.94606841A>TCA374106670FBP1c.839T>A (n.839T>A)
c.679T>A (p.Tyr227Asn)
c.484T>A (p.Tyr162Asn)
c.427T>A (p.Tyr143Asn)
c.433T>A (p.Tyr145Asn)
9g.94606842C>ACA374106671FBP1c.838G>T (n.838G>T)
c.678G>T (p.Glu226Asp)
c.483G>T (p.Glu161Asp)
c.426G>T (p.Glu142Asp)
c.432G>T (p.Glu144Asp)
9g.94606842C>GCA374106673FBP1c.838G>C (n.838G>C)
c.678G>C (p.Glu226Asp)
c.483G>C (p.Glu161Asp)
c.426G>C (p.Glu142Asp)
c.432G>C (p.Glu144Asp)
9g.94606842C>TCA466099962FBP1c.838G>A (n.838G>A)
c.678G>A (p.Glu226=)
c.483G>A (p.Glu161=)
c.426G>A (p.Glu142=)
c.432G>A (p.Glu144=)
9g.94606843T>ACA374106678FBP1c.837A>T (n.837A>T)
c.677A>T (p.Glu226Val)
c.482A>T (p.Glu161Val)
c.425A>T (p.Glu142Val)
c.431A>T (p.Glu144Val)
9g.94606843T>CCA5136168FBP1c.837A>G (n.837A>G)
c.677A>G (p.Glu226Gly)
c.482A>G (p.Glu161Gly)
c.425A>G (p.Glu142Gly)
c.431A>G (p.Glu144Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94606843T>GCA196553525FBP1c.837A>C (n.837A>C)
c.677A>C (p.Glu226Ala)
c.482A>C (p.Glu161Ala)
c.425A>C (p.Glu142Ala)
c.431A>C (p.Glu144Ala)
 dbSNP
9g.94606843T=CA1865226630FBP1c.837A= (n.837A=)
c.677A= (p.Glu226=)
c.482A= (p.Glu161=)
c.425A= (p.Glu142=)
c.431A= (p.Glu144=)
9g.94606844C>ACA374106680FBP1c.836G>T (n.836G>T)
c.676G>T (p.Glu226Ter)
c.481G>T (p.Glu161Ter)
c.424G>T (p.Glu142Ter)
c.430G>T (p.Glu144Ter)
 gnomAD v4
9g.94606844C>GCA374106681FBP1c.836G>C (n.836G>C)
c.676G>C (p.Glu226Gln)
c.481G>C (p.Glu161Gln)
c.424G>C (p.Glu142Gln)
c.430G>C (p.Glu144Gln)
9g.94606844C>TCA374106682FBP1c.836G>A (n.836G>A)
c.676G>A (p.Glu226Lys)
c.481G>A (p.Glu161Lys)
c.424G>A (p.Glu142Lys)
c.430G>A (p.Glu144Lys)
 ClinVar gnomAD v4 COSMIC
9g.94606845A>CCA466099963FBP1c.835T>G (n.835T>G)
c.675T>G (p.Thr225=)
c.480T>G (p.Thr160=)
c.423T>G (p.Thr141=)
c.429T>G (p.Thr143=)
9g.94606845A>GCA466099964FBP1c.835T>C (n.835T>C)
c.675T>C (p.Thr225=)
c.480T>C (p.Thr160=)
c.423T>C (p.Thr141=)
c.429T>C (p.Thr143=)
9g.94606845A>TCA466099965FBP1c.835T>A (n.835T>A)
c.675T>A (p.Thr225=)
c.480T>A (p.Thr160=)
c.423T>A (p.Thr141=)
c.429T>A (p.Thr143=)
9g.94606846G>ACA374106683FBP1c.834C>T (n.834C>T)
c.674C>T (p.Thr225Ile)
c.479C>T (p.Thr160Ile)
c.422C>T (p.Thr141Ile)
c.428C>T (p.Thr143Ile)
9g.94606846G>CCA374106685FBP1c.834C>G (n.834C>G)
c.674C>G (p.Thr225Ser)
c.479C>G (p.Thr160Ser)
c.422C>G (p.Thr141Ser)
c.428C>G (p.Thr143Ser)
9g.94606846G>TCA374106687FBP1c.834C>A (n.834C>A)
c.674C>A (p.Thr225Asn)
c.479C>A (p.Thr160Asn)
c.422C>A (p.Thr141Asn)
c.428C>A (p.Thr143Asn)
9g.94606847T>ACA374106693FBP1c.833A>T (n.833A>T)
c.673A>T (p.Thr225Ser)
c.478A>T (p.Thr160Ser)
c.421A>T (p.Thr141Ser)
c.427A>T (p.Thr143Ser)
9g.94606847T>CCA374106691FBP1c.833A>G (n.833A>G)
c.673A>G (p.Thr225Ala)
c.478A>G (p.Thr160Ala)
c.421A>G (p.Thr141Ala)
c.427A>G (p.Thr143Ala)
9g.94606847T>GCA374106689FBP1c.833A>C (n.833A>C)
c.673A>C (p.Thr225Pro)
c.478A>C (p.Thr160Pro)
c.421A>C (p.Thr141Pro)
c.427A>C (p.Thr143Pro)
9g.94606848G>ACA5136169FBP1c.832C>T (n.832C>T)
c.672C>T (p.Val224=)
c.477C>T (p.Val159=)
c.420C>T (p.Val140=)
c.426C>T (p.Val142=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94606848G>CCA466099966FBP1c.832C>G (n.832C>G)
c.672C>G (p.Val224=)
c.477C>G (p.Val159=)
c.420C>G (p.Val140=)
c.426C>G (p.Val142=)
9g.94606848G=CA1865226631FBP1c.832C= (n.832C=)
c.672C= (p.Val224=)
c.477C= (p.Val159=)
c.420C= (p.Val140=)
c.426C= (p.Val142=)
9g.94606848G>TCA466099967FBP1c.832C>A (n.832C>A)
c.672C>A (p.Val224=)
c.477C>A (p.Val159=)
c.420C>A (p.Val140=)
c.426C>A (p.Val142=)
9g.94606849A=CA1865226632FBP1c.831T= (n.831T=)
c.671T= (p.Val224=)
c.476T= (p.Val159=)
c.419T= (p.Val140=)
c.425T= (p.Val142=)
9g.94606849A>CCA374106695FBP1c.831T>G (n.831T>G)
c.671T>G (p.Val224Gly)
c.476T>G (p.Val159Gly)
c.419T>G (p.Val140Gly)
c.425T>G (p.Val142Gly)
9g.94606849A>GCA196553530FBP1c.831T>C (n.831T>C)
c.671T>C (p.Val224Ala)
c.476T>C (p.Val159Ala)
c.419T>C (p.Val140Ala)
c.425T>C (p.Val142Ala)
 dbSNP
9g.94606849A>TCA374106697FBP1c.831T>A (n.831T>A)
c.671T>A (p.Val224Asp)
c.476T>A (p.Val159Asp)
c.419T>A (p.Val140Asp)
c.425T>A (p.Val142Asp)
 dbSNP
9g.94606850C>ACA374106701FBP1c.830G>T (n.830G>T)
c.670G>T (p.Val224Phe)
c.475G>T (p.Val159Phe)
c.418G>T (p.Val140Phe)
c.424G>T (p.Val142Phe)
9g.94606850C=CA1865226633FBP1c.830G= (n.830G=)
c.670G= (p.Val224=)
c.475G= (p.Val159=)
c.418G= (p.Val140=)
c.424G= (p.Val142=)
9g.94606850C>GCA374106702FBP1c.830G>C (n.830G>C)
c.670G>C (p.Val224Leu)
c.475G>C (p.Val159Leu)
c.418G>C (p.Val140Leu)
c.424G>C (p.Val142Leu)
9g.94606850C>TCA323535FBP1c.830G>A (n.830G>A)
c.670G>A (p.Val224Ile)
c.475G>A (p.Val159Ile)
c.418G>A (p.Val140Ile)
c.424G>A (p.Val142Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94606851G>ACA196553536FBP1c.829C>T (n.829C>T)
c.669C>T (p.Ala223=)
c.474C>T (p.Ala158=)
c.417C>T (p.Ala139=)
c.423C>T (p.Ala141=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94606851G>CCA466099969FBP1c.829C>G (n.829C>G)
c.669C>G (p.Ala223=)
c.474C>G (p.Ala158=)
c.417C>G (p.Ala139=)
c.423C>G (p.Ala141=)
9g.94606851G=CA1865226634FBP1c.829C= (n.829C=)
c.669C= (p.Ala223=)
c.474C= (p.Ala158=)
c.417C= (p.Ala139=)
c.423C= (p.Ala141=)
9g.94606851G>TCA466099970FBP1c.829C>A (n.829C>A)
c.669C>A (p.Ala223=)
c.474C>A (p.Ala158=)
c.417C>A (p.Ala139=)
c.423C>A (p.Ala141=)
9g.94606852G>ACA374106704FBP1c.828C>T (n.828C>T)
c.668C>T (p.Ala223Val)
c.473C>T (p.Ala158Val)
c.416C>T (p.Ala139Val)
c.422C>T (p.Ala141Val)
9g.94606852G>CCA374106706FBP1c.828C>G (n.828C>G)
c.668C>G (p.Ala223Gly)
c.473C>G (p.Ala158Gly)
c.416C>G (p.Ala139Gly)
c.422C>G (p.Ala141Gly)
 gnomAD v4
9g.94606852G=CA1865226635FBP1c.828C= (n.828C=)
c.668C= (p.Ala223=)
c.473C= (p.Ala158=)
c.416C= (p.Ala139=)
c.422C= (p.Ala141=)
9g.94606852G>TCA320998FBP1c.828C>A (n.828C>A)
c.668C>A (p.Ala223Asp)
c.473C>A (p.Ala158Asp)
c.416C>A (p.Ala139Asp)
c.422C>A (p.Ala141Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched