Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.115040924_115040925dupCA5207662TNCc.584+33_584+34dup
c.3481+33_3481+34dup (n.3481+33_3481+34dup)
c.4303+33_4303+34dup (n.4303+33_4303+34dup)
c.2335+33_2335+34dup (n.2335+33_2335+34dup)
c.991+33_991+34dup (n.991+33_991+34dup)
c.4350+33_4350+34dup
c.5392+33_5392+34dup (n.5392+33_5392+34dup)
c.4846+33_4846+34dup (n.4846+33_4846+34dup)
c.4573+33_4573+34dup (n.4573+33_4573+34dup)
n.519+33_519+34dup
n.306+33_306+34dup
c.1079+33_1079+34dup
c.5119+33_5119+34dup (n.5119+33_5119+34dup)
c.4300+33_4300+34dup (n.4300+33_4300+34dup)
c.3754+33_3754+34dup (n.3754+33_3754+34dup)
c.5668+33_5668+34dup (n.5668+33_5668+34dup)
c.5395+33_5395+34dup (n.5395+33_5395+34dup)
c.4849+33_4849+34dup (n.4849+33_4849+34dup)
c.4576+33_4576+34dup (n.4576+33_4576+34dup)
c.4027+33_4027+34dup (n.4027+33_4027+34dup)
c.5941+33_5941+34dup (n.5941+33_5941+34dup)
c.5665+33_5665+34dup (n.5665+33_5665+34dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115040922_115040925dupCA5207660TNCc.584+31_584+34dup
c.3481+31_3481+34dup (n.3481+31_3481+34dup)
c.4303+31_4303+34dup (n.4303+31_4303+34dup)
c.2335+31_2335+34dup (n.2335+31_2335+34dup)
c.991+31_991+34dup (n.991+31_991+34dup)
c.4350+31_4350+34dup
c.5392+31_5392+34dup (n.5392+31_5392+34dup)
c.4846+31_4846+34dup (n.4846+31_4846+34dup)
c.4573+31_4573+34dup (n.4573+31_4573+34dup)
n.519+31_519+34dup
n.306+31_306+34dup
c.1079+31_1079+34dup
c.5119+31_5119+34dup (n.5119+31_5119+34dup)
c.4300+31_4300+34dup (n.4300+31_4300+34dup)
c.3754+31_3754+34dup (n.3754+31_3754+34dup)
c.5668+31_5668+34dup (n.5668+31_5668+34dup)
c.5395+31_5395+34dup (n.5395+31_5395+34dup)
c.4849+31_4849+34dup (n.4849+31_4849+34dup)
c.4576+31_4576+34dup (n.4576+31_4576+34dup)
c.4027+31_4027+34dup (n.4027+31_4027+34dup)
c.5941+31_5941+34dup (n.5941+31_5941+34dup)
c.5665+31_5665+34dup (n.5665+31_5665+34dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115040920_115040925dupCA5207663TNCc.584+29_584+34dup
c.3481+29_3481+34dup (n.3481+29_3481+34dup)
c.4303+29_4303+34dup (n.4303+29_4303+34dup)
c.2335+29_2335+34dup (n.2335+29_2335+34dup)
c.991+29_991+34dup (n.991+29_991+34dup)
c.4350+29_4350+34dup
c.5392+29_5392+34dup (n.5392+29_5392+34dup)
c.4846+29_4846+34dup (n.4846+29_4846+34dup)
c.4573+29_4573+34dup (n.4573+29_4573+34dup)
n.519+29_519+34dup
n.306+29_306+34dup
c.1079+29_1079+34dup
c.5119+29_5119+34dup (n.5119+29_5119+34dup)
c.4300+29_4300+34dup (n.4300+29_4300+34dup)
c.3754+29_3754+34dup (n.3754+29_3754+34dup)
c.5668+29_5668+34dup (n.5668+29_5668+34dup)
c.5395+29_5395+34dup (n.5395+29_5395+34dup)
c.4849+29_4849+34dup (n.4849+29_4849+34dup)
c.4576+29_4576+34dup (n.4576+29_4576+34dup)
c.4027+29_4027+34dup (n.4027+29_4027+34dup)
c.5941+29_5941+34dup (n.5941+29_5941+34dup)
c.5665+29_5665+34dup (n.5665+29_5665+34dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115040918_115040925dupCA590156286TNCc.584+27_584+34dup
c.3481+27_3481+34dup (n.3481+27_3481+34dup)
c.4303+27_4303+34dup (n.4303+27_4303+34dup)
c.2335+27_2335+34dup (n.2335+27_2335+34dup)
c.991+27_991+34dup (n.991+27_991+34dup)
c.4350+27_4350+34dup
c.5392+27_5392+34dup (n.5392+27_5392+34dup)
c.4846+27_4846+34dup (n.4846+27_4846+34dup)
c.4573+27_4573+34dup (n.4573+27_4573+34dup)
n.519+27_519+34dup
n.306+27_306+34dup
c.1079+27_1079+34dup
c.5119+27_5119+34dup (n.5119+27_5119+34dup)
c.4300+27_4300+34dup (n.4300+27_4300+34dup)
c.3754+27_3754+34dup (n.3754+27_3754+34dup)
c.5668+27_5668+34dup (n.5668+27_5668+34dup)
c.5395+27_5395+34dup (n.5395+27_5395+34dup)
c.4849+27_4849+34dup (n.4849+27_4849+34dup)
c.4576+27_4576+34dup (n.4576+27_4576+34dup)
c.4027+27_4027+34dup (n.4027+27_4027+34dup)
c.5941+27_5941+34dup (n.5941+27_5941+34dup)
c.5665+27_5665+34dup (n.5665+27_5665+34dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.115040916_115040925dupCA5207664TNCc.584+25_584+34dup
c.3481+25_3481+34dup (n.3481+25_3481+34dup)
c.4303+25_4303+34dup (n.4303+25_4303+34dup)
c.2335+25_2335+34dup (n.2335+25_2335+34dup)
c.991+25_991+34dup (n.991+25_991+34dup)
c.4350+25_4350+34dup
c.5392+25_5392+34dup (n.5392+25_5392+34dup)
c.4846+25_4846+34dup (n.4846+25_4846+34dup)
c.4573+25_4573+34dup (n.4573+25_4573+34dup)
n.519+25_519+34dup
n.306+25_306+34dup
c.1079+25_1079+34dup
c.5119+25_5119+34dup (n.5119+25_5119+34dup)
c.4300+25_4300+34dup (n.4300+25_4300+34dup)
c.3754+25_3754+34dup (n.3754+25_3754+34dup)
c.5668+25_5668+34dup (n.5668+25_5668+34dup)
c.5395+25_5395+34dup (n.5395+25_5395+34dup)
c.4849+25_4849+34dup (n.4849+25_4849+34dup)
c.4576+25_4576+34dup (n.4576+25_4576+34dup)
c.4027+25_4027+34dup (n.4027+25_4027+34dup)
c.5941+25_5941+34dup (n.5941+25_5941+34dup)
c.5665+25_5665+34dup (n.5665+25_5665+34dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115040914_115040925dupCA5207665TNCc.584+23_584+34dup
c.3481+23_3481+34dup (n.3481+23_3481+34dup)
c.4303+23_4303+34dup (n.4303+23_4303+34dup)
c.2335+23_2335+34dup (n.2335+23_2335+34dup)
c.991+23_991+34dup (n.991+23_991+34dup)
c.4350+23_4350+34dup
c.5392+23_5392+34dup (n.5392+23_5392+34dup)
c.4846+23_4846+34dup (n.4846+23_4846+34dup)
c.4573+23_4573+34dup (n.4573+23_4573+34dup)
n.519+23_519+34dup
n.306+23_306+34dup
c.1079+23_1079+34dup
c.5119+23_5119+34dup (n.5119+23_5119+34dup)
c.4300+23_4300+34dup (n.4300+23_4300+34dup)
c.3754+23_3754+34dup (n.3754+23_3754+34dup)
c.5668+23_5668+34dup (n.5668+23_5668+34dup)
c.5395+23_5395+34dup (n.5395+23_5395+34dup)
c.4849+23_4849+34dup (n.4849+23_4849+34dup)
c.4576+23_4576+34dup (n.4576+23_4576+34dup)
c.4027+23_4027+34dup (n.4027+23_4027+34dup)
c.5941+23_5941+34dup (n.5941+23_5941+34dup)
c.5665+23_5665+34dup (n.5665+23_5665+34dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115040912_115040925dupCA858973567TNCc.584+21_584+34dup
c.3481+21_3481+34dup (n.3481+21_3481+34dup)
c.4303+21_4303+34dup (n.4303+21_4303+34dup)
c.2335+21_2335+34dup (n.2335+21_2335+34dup)
c.991+21_991+34dup (n.991+21_991+34dup)
c.4350+21_4350+34dup
c.5392+21_5392+34dup (n.5392+21_5392+34dup)
c.4846+21_4846+34dup (n.4846+21_4846+34dup)
c.4573+21_4573+34dup (n.4573+21_4573+34dup)
n.519+21_519+34dup
n.306+21_306+34dup
c.1079+21_1079+34dup
c.5119+21_5119+34dup (n.5119+21_5119+34dup)
c.4300+21_4300+34dup (n.4300+21_4300+34dup)
c.3754+21_3754+34dup (n.3754+21_3754+34dup)
c.5668+21_5668+34dup (n.5668+21_5668+34dup)
c.5395+21_5395+34dup (n.5395+21_5395+34dup)
c.4849+21_4849+34dup (n.4849+21_4849+34dup)
c.4576+21_4576+34dup (n.4576+21_4576+34dup)
c.4027+21_4027+34dup (n.4027+21_4027+34dup)
c.5941+21_5941+34dup (n.5941+21_5941+34dup)
c.5665+21_5665+34dup (n.5665+21_5665+34dup)
 dbSNP gnomAD v4
9g.115040924_115040925delCA5207661TNCc.584+33_584+34del
c.3481+33_3481+34del (n.3481+33_3481+34del)
c.4303+33_4303+34del (n.4303+33_4303+34del)
c.2335+33_2335+34del (n.2335+33_2335+34del)
c.991+33_991+34del (n.991+33_991+34del)
c.4350+33_4350+34del
c.5392+33_5392+34del (n.5392+33_5392+34del)
c.4846+33_4846+34del (n.4846+33_4846+34del)
c.4573+33_4573+34del (n.4573+33_4573+34del)
n.519+33_519+34del
n.306+33_306+34del
c.1079+33_1079+34del
c.5119+33_5119+34del (n.5119+33_5119+34del)
c.4300+33_4300+34del (n.4300+33_4300+34del)
c.3754+33_3754+34del (n.3754+33_3754+34del)
c.5668+33_5668+34del (n.5668+33_5668+34del)
c.5395+33_5395+34del (n.5395+33_5395+34del)
c.4849+33_4849+34del (n.4849+33_4849+34del)
c.4576+33_4576+34del (n.4576+33_4576+34del)
c.4027+33_4027+34del (n.4027+33_4027+34del)
c.5941+33_5941+34del (n.5941+33_5941+34del)
c.5665+33_5665+34del (n.5665+33_5665+34del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115040922_115040925delCA1128371990TNCc.584+31_584+34del
c.3481+31_3481+34del (n.3481+31_3481+34del)
c.4303+31_4303+34del (n.4303+31_4303+34del)
c.2335+31_2335+34del (n.2335+31_2335+34del)
c.991+31_991+34del (n.991+31_991+34del)
c.4350+31_4350+34del
c.5392+31_5392+34del (n.5392+31_5392+34del)
c.4846+31_4846+34del (n.4846+31_4846+34del)
c.4573+31_4573+34del (n.4573+31_4573+34del)
n.519+31_519+34del
n.306+31_306+34del
c.1079+31_1079+34del
c.5119+31_5119+34del (n.5119+31_5119+34del)
c.4300+31_4300+34del (n.4300+31_4300+34del)
c.3754+31_3754+34del (n.3754+31_3754+34del)
c.5668+31_5668+34del (n.5668+31_5668+34del)
c.5395+31_5395+34del (n.5395+31_5395+34del)
c.4849+31_4849+34del (n.4849+31_4849+34del)
c.4576+31_4576+34del (n.4576+31_4576+34del)
c.4027+31_4027+34del (n.4027+31_4027+34del)
c.5941+31_5941+34del (n.5941+31_5941+34del)
c.5665+31_5665+34del (n.5665+31_5665+34del)
 dbSNP gnomAD v3 gnomAD v4
9g.115040920_115040925delCA1874116290TNCc.584+29_584+34del
c.3481+29_3481+34del (n.3481+29_3481+34del)
c.4303+29_4303+34del (n.4303+29_4303+34del)
c.2335+29_2335+34del (n.2335+29_2335+34del)
c.991+29_991+34del (n.991+29_991+34del)
c.4350+29_4350+34del
c.5392+29_5392+34del (n.5392+29_5392+34del)
c.4846+29_4846+34del (n.4846+29_4846+34del)
c.4573+29_4573+34del (n.4573+29_4573+34del)
n.519+29_519+34del
n.306+29_306+34del
c.1079+29_1079+34del
c.5119+29_5119+34del (n.5119+29_5119+34del)
c.4300+29_4300+34del (n.4300+29_4300+34del)
c.3754+29_3754+34del (n.3754+29_3754+34del)
c.5668+29_5668+34del (n.5668+29_5668+34del)
c.5395+29_5395+34del (n.5395+29_5395+34del)
c.4849+29_4849+34del (n.4849+29_4849+34del)
c.4576+29_4576+34del (n.4576+29_4576+34del)
c.4027+29_4027+34del (n.4027+29_4027+34del)
c.5941+29_5941+34del (n.5941+29_5941+34del)
c.5665+29_5665+34del (n.5665+29_5665+34del)
 dbSNP gnomAD v4
9g.115040918_115040925delCA1128371989TNCc.584+27_584+34del
c.3481+27_3481+34del (n.3481+27_3481+34del)
c.4303+27_4303+34del (n.4303+27_4303+34del)
c.2335+27_2335+34del (n.2335+27_2335+34del)
c.991+27_991+34del (n.991+27_991+34del)
c.4350+27_4350+34del
c.5392+27_5392+34del (n.5392+27_5392+34del)
c.4846+27_4846+34del (n.4846+27_4846+34del)
c.4573+27_4573+34del (n.4573+27_4573+34del)
n.519+27_519+34del
n.306+27_306+34del
c.1079+27_1079+34del
c.5119+27_5119+34del (n.5119+27_5119+34del)
c.4300+27_4300+34del (n.4300+27_4300+34del)
c.3754+27_3754+34del (n.3754+27_3754+34del)
c.5668+27_5668+34del (n.5668+27_5668+34del)
c.5395+27_5395+34del (n.5395+27_5395+34del)
c.4849+27_4849+34del (n.4849+27_4849+34del)
c.4576+27_4576+34del (n.4576+27_4576+34del)
c.4027+27_4027+34del (n.4027+27_4027+34del)
c.5941+27_5941+34del (n.5941+27_5941+34del)
c.5665+27_5665+34del (n.5665+27_5665+34del)
 gnomAD v3 gnomAD v4
9g.115040921_115040922insAACACACACACACA2720687480TNCc.584+30_584+31insTTGTGTGTGTGT
c.3481+30_3481+31insTTGTGTGTGTGT (n.3481+30_3481+31insTTGTGTGTGTGT)
c.4303+30_4303+31insTTGTGTGTGTGT (n.4303+30_4303+31insTTGTGTGTGTGT)
c.2335+30_2335+31insTTGTGTGTGTGT (n.2335+30_2335+31insTTGTGTGTGTGT)
c.991+30_991+31insTTGTGTGTGTGT (n.991+30_991+31insTTGTGTGTGTGT)
c.4350+30_4350+31insTTGTGTGTGTGT
c.5392+30_5392+31insTTGTGTGTGTGT (n.5392+30_5392+31insTTGTGTGTGTGT)
c.4846+30_4846+31insTTGTGTGTGTGT (n.4846+30_4846+31insTTGTGTGTGTGT)
c.4573+30_4573+31insTTGTGTGTGTGT (n.4573+30_4573+31insTTGTGTGTGTGT)
n.519+30_519+31insTTGTGTGTGTGT
n.306+30_306+31insTTGTGTGTGTGT
c.1079+30_1079+31insTTGTGTGTGTGT
c.5119+30_5119+31insTTGTGTGTGTGT (n.5119+30_5119+31insTTGTGTGTGTGT)
c.4300+30_4300+31insTTGTGTGTGTGT (n.4300+30_4300+31insTTGTGTGTGTGT)
c.3754+30_3754+31insTTGTGTGTGTGT (n.3754+30_3754+31insTTGTGTGTGTGT)
c.5668+30_5668+31insTTGTGTGTGTGT (n.5668+30_5668+31insTTGTGTGTGTGT)
c.5395+30_5395+31insTTGTGTGTGTGT (n.5395+30_5395+31insTTGTGTGTGTGT)
c.4849+30_4849+31insTTGTGTGTGTGT (n.4849+30_4849+31insTTGTGTGTGTGT)
c.4576+30_4576+31insTTGTGTGTGTGT (n.4576+30_4576+31insTTGTGTGTGTGT)
c.4027+30_4027+31insTTGTGTGTGTGT (n.4027+30_4027+31insTTGTGTGTGTGT)
c.5941+30_5941+31insTTGTGTGTGTGT (n.5941+30_5941+31insTTGTGTGTGTGT)
c.5665+30_5665+31insTTGTGTGTGTGT (n.5665+30_5665+31insTTGTGTGTGTGT)
 dbSNP
9g.115040916_115040917insGACCA198685180TNCc.584+26_584+27insCGT
c.3481+26_3481+27insCGT (n.3481+26_3481+27insCGT)
c.4303+26_4303+27insCGT (n.4303+26_4303+27insCGT)
c.2335+26_2335+27insCGT (n.2335+26_2335+27insCGT)
c.991+26_991+27insCGT (n.991+26_991+27insCGT)
c.4350+26_4350+27insCGT
c.5392+26_5392+27insCGT (n.5392+26_5392+27insCGT)
c.4846+26_4846+27insCGT (n.4846+26_4846+27insCGT)
c.4573+26_4573+27insCGT (n.4573+26_4573+27insCGT)
n.519+26_519+27insCGT
n.306+26_306+27insCGT
c.1079+26_1079+27insCGT
c.5119+26_5119+27insCGT (n.5119+26_5119+27insCGT)
c.4300+26_4300+27insCGT (n.4300+26_4300+27insCGT)
c.3754+26_3754+27insCGT (n.3754+26_3754+27insCGT)
c.5668+26_5668+27insCGT (n.5668+26_5668+27insCGT)
c.5395+26_5395+27insCGT (n.5395+26_5395+27insCGT)
c.4849+26_4849+27insCGT (n.4849+26_4849+27insCGT)
c.4576+26_4576+27insCGT (n.4576+26_4576+27insCGT)
c.4027+26_4027+27insCGT (n.4027+26_4027+27insCGT)
c.5941+26_5941+27insCGT (n.5941+26_5941+27insCGT)
c.5665+26_5665+27insCGT (n.5665+26_5665+27insCGT)
 dbSNP
9g.115040917_115040918insAACACA2720687484TNCc.584+26_584+27insTTGT
c.3481+26_3481+27insTTGT (n.3481+26_3481+27insTTGT)
c.4303+26_4303+27insTTGT (n.4303+26_4303+27insTTGT)
c.2335+26_2335+27insTTGT (n.2335+26_2335+27insTTGT)
c.991+26_991+27insTTGT (n.991+26_991+27insTTGT)
c.4350+26_4350+27insTTGT
c.5392+26_5392+27insTTGT (n.5392+26_5392+27insTTGT)
c.4846+26_4846+27insTTGT (n.4846+26_4846+27insTTGT)
c.4573+26_4573+27insTTGT (n.4573+26_4573+27insTTGT)
n.519+26_519+27insTTGT
n.306+26_306+27insTTGT
c.1079+26_1079+27insTTGT
c.5119+26_5119+27insTTGT (n.5119+26_5119+27insTTGT)
c.4300+26_4300+27insTTGT (n.4300+26_4300+27insTTGT)
c.3754+26_3754+27insTTGT (n.3754+26_3754+27insTTGT)
c.5668+26_5668+27insTTGT (n.5668+26_5668+27insTTGT)
c.5395+26_5395+27insTTGT (n.5395+26_5395+27insTTGT)
c.4849+26_4849+27insTTGT (n.4849+26_4849+27insTTGT)
c.4576+26_4576+27insTTGT (n.4576+26_4576+27insTTGT)
c.4027+26_4027+27insTTGT (n.4027+26_4027+27insTTGT)
c.5941+26_5941+27insTTGT (n.5941+26_5941+27insTTGT)
c.5665+26_5665+27insTTGT (n.5665+26_5665+27insTTGT)
 dbSNP
9g.115040917_115040918insTACACA2720687506TNCc.584+26_584+27insATGT
c.3481+26_3481+27insATGT (n.3481+26_3481+27insATGT)
c.4303+26_4303+27insATGT (n.4303+26_4303+27insATGT)
c.2335+26_2335+27insATGT (n.2335+26_2335+27insATGT)
c.991+26_991+27insATGT (n.991+26_991+27insATGT)
c.4350+26_4350+27insATGT
c.5392+26_5392+27insATGT (n.5392+26_5392+27insATGT)
c.4846+26_4846+27insATGT (n.4846+26_4846+27insATGT)
c.4573+26_4573+27insATGT (n.4573+26_4573+27insATGT)
n.519+26_519+27insATGT
n.306+26_306+27insATGT
c.1079+26_1079+27insATGT
c.5119+26_5119+27insATGT (n.5119+26_5119+27insATGT)
c.4300+26_4300+27insATGT (n.4300+26_4300+27insATGT)
c.3754+26_3754+27insATGT (n.3754+26_3754+27insATGT)
c.5668+26_5668+27insATGT (n.5668+26_5668+27insATGT)
c.5395+26_5395+27insATGT (n.5395+26_5395+27insATGT)
c.4849+26_4849+27insATGT (n.4849+26_4849+27insATGT)
c.4576+26_4576+27insATGT (n.4576+26_4576+27insATGT)
c.4027+26_4027+27insATGT (n.4027+26_4027+27insATGT)
c.5941+26_5941+27insATGT (n.5941+26_5941+27insATGT)
c.5665+26_5665+27insATGT (n.5665+26_5665+27insATGT)
 dbSNP
9g.115040916C=CA1874116298TNCc.584+25G=
c.3481+25G= (n.3481+25G=)
c.4303+25G= (n.4303+25G=)
c.2335+25G= (n.2335+25G=)
c.991+25G= (n.991+25G=)
c.4350+25G=
c.5392+25G= (n.5392+25G=)
c.4846+25G= (n.4846+25G=)
c.4573+25G= (n.4573+25G=)
n.519+25G=
n.306+25G=
c.1079+25G=
c.5119+25G= (n.5119+25G=)
c.4300+25G= (n.4300+25G=)
c.3754+25G= (n.3754+25G=)
c.5668+25G= (n.5668+25G=)
c.5395+25G= (n.5395+25G=)
c.4849+25G= (n.4849+25G=)
c.4576+25G= (n.4576+25G=)
c.4027+25G= (n.4027+25G=)
c.5941+25G= (n.5941+25G=)
c.5665+25G= (n.5665+25G=)
9g.115040916C>TCA198685185TNCc.584+25G>A
c.3481+25G>A (n.3481+25G>A)
c.4303+25G>A (n.4303+25G>A)
c.2335+25G>A (n.2335+25G>A)
c.991+25G>A (n.991+25G>A)
c.4350+25G>A
c.5392+25G>A (n.5392+25G>A)
c.4846+25G>A (n.4846+25G>A)
c.4573+25G>A (n.4573+25G>A)
n.519+25G>A
n.306+25G>A
c.1079+25G>A
c.5119+25G>A (n.5119+25G>A)
c.4300+25G>A (n.4300+25G>A)
c.3754+25G>A (n.3754+25G>A)
c.5668+25G>A (n.5668+25G>A)
c.5395+25G>A (n.5395+25G>A)
c.4849+25G>A (n.4849+25G>A)
c.4576+25G>A (n.4576+25G>A)
c.4027+25G>A (n.4027+25G>A)
c.5941+25G>A (n.5941+25G>A)
c.5665+25G>A (n.5665+25G>A)
 dbSNP
9g.115040918_115040919insTCACCA2720687515TNCc.584+25_584+26insAGTG
c.3481+25_3481+26insAGTG (n.3481+25_3481+26insAGTG)
c.4303+25_4303+26insAGTG (n.4303+25_4303+26insAGTG)
c.2335+25_2335+26insAGTG (n.2335+25_2335+26insAGTG)
c.991+25_991+26insAGTG (n.991+25_991+26insAGTG)
c.4350+25_4350+26insAGTG
c.5392+25_5392+26insAGTG (n.5392+25_5392+26insAGTG)
c.4846+25_4846+26insAGTG (n.4846+25_4846+26insAGTG)
c.4573+25_4573+26insAGTG (n.4573+25_4573+26insAGTG)
n.519+25_519+26insAGTG
n.306+25_306+26insAGTG
c.1079+25_1079+26insAGTG
c.5119+25_5119+26insAGTG (n.5119+25_5119+26insAGTG)
c.4300+25_4300+26insAGTG (n.4300+25_4300+26insAGTG)
c.3754+25_3754+26insAGTG (n.3754+25_3754+26insAGTG)
c.5668+25_5668+26insAGTG (n.5668+25_5668+26insAGTG)
c.5395+25_5395+26insAGTG (n.5395+25_5395+26insAGTG)
c.4849+25_4849+26insAGTG (n.4849+25_4849+26insAGTG)
c.4576+25_4576+26insAGTG (n.4576+25_4576+26insAGTG)
c.4027+25_4027+26insAGTG (n.4027+25_4027+26insAGTG)
c.5941+25_5941+26insAGTG (n.5941+25_5941+26insAGTG)
c.5665+25_5665+26insAGTG (n.5665+25_5665+26insAGTG)
 dbSNP
9g.115040919_115040920insAACACA2720687524TNCc.584+24_584+25insTTGT
c.3481+24_3481+25insTTGT (n.3481+24_3481+25insTTGT)
c.4303+24_4303+25insTTGT (n.4303+24_4303+25insTTGT)
c.2335+24_2335+25insTTGT (n.2335+24_2335+25insTTGT)
c.991+24_991+25insTTGT (n.991+24_991+25insTTGT)
c.4350+24_4350+25insTTGT
c.5392+24_5392+25insTTGT (n.5392+24_5392+25insTTGT)
c.4846+24_4846+25insTTGT (n.4846+24_4846+25insTTGT)
c.4573+24_4573+25insTTGT (n.4573+24_4573+25insTTGT)
n.519+24_519+25insTTGT
n.306+24_306+25insTTGT
c.1079+24_1079+25insTTGT
c.5119+24_5119+25insTTGT (n.5119+24_5119+25insTTGT)
c.4300+24_4300+25insTTGT (n.4300+24_4300+25insTTGT)
c.3754+24_3754+25insTTGT (n.3754+24_3754+25insTTGT)
c.5668+24_5668+25insTTGT (n.5668+24_5668+25insTTGT)
c.5395+24_5395+25insTTGT (n.5395+24_5395+25insTTGT)
c.4849+24_4849+25insTTGT (n.4849+24_4849+25insTTGT)
c.4576+24_4576+25insTTGT (n.4576+24_4576+25insTTGT)
c.4027+24_4027+25insTTGT (n.4027+24_4027+25insTTGT)
c.5941+24_5941+25insTTGT (n.5941+24_5941+25insTTGT)
c.5665+24_5665+25insTTGT (n.5665+24_5665+25insTTGT)
 dbSNP
9g.115040919_115040920insGACACA2720687525TNCc.584+24_584+25insCTGT
c.3481+24_3481+25insCTGT (n.3481+24_3481+25insCTGT)
c.4303+24_4303+25insCTGT (n.4303+24_4303+25insCTGT)
c.2335+24_2335+25insCTGT (n.2335+24_2335+25insCTGT)
c.991+24_991+25insCTGT (n.991+24_991+25insCTGT)
c.4350+24_4350+25insCTGT
c.5392+24_5392+25insCTGT (n.5392+24_5392+25insCTGT)
c.4846+24_4846+25insCTGT (n.4846+24_4846+25insCTGT)
c.4573+24_4573+25insCTGT (n.4573+24_4573+25insCTGT)
n.519+24_519+25insCTGT
n.306+24_306+25insCTGT
c.1079+24_1079+25insCTGT
c.5119+24_5119+25insCTGT (n.5119+24_5119+25insCTGT)
c.4300+24_4300+25insCTGT (n.4300+24_4300+25insCTGT)
c.3754+24_3754+25insCTGT (n.3754+24_3754+25insCTGT)
c.5668+24_5668+25insCTGT (n.5668+24_5668+25insCTGT)
c.5395+24_5395+25insCTGT (n.5395+24_5395+25insCTGT)
c.4849+24_4849+25insCTGT (n.4849+24_4849+25insCTGT)
c.4576+24_4576+25insCTGT (n.4576+24_4576+25insCTGT)
c.4027+24_4027+25insCTGT (n.4027+24_4027+25insCTGT)
c.5941+24_5941+25insCTGT (n.5941+24_5941+25insCTGT)
c.5665+24_5665+25insCTGT (n.5665+24_5665+25insCTGT)
 dbSNP
9g.115040918C>ACA2691396660TNCc.584+23G>T
c.3481+23G>T (n.3481+23G>T)
c.4303+23G>T (n.4303+23G>T)
c.2335+23G>T (n.2335+23G>T)
c.991+23G>T (n.991+23G>T)
c.4350+23G>T
c.5392+23G>T (n.5392+23G>T)
c.4846+23G>T (n.4846+23G>T)
c.4573+23G>T (n.4573+23G>T)
n.519+23G>T
n.306+23G>T
c.1079+23G>T
c.5119+23G>T (n.5119+23G>T)
c.4300+23G>T (n.4300+23G>T)
c.3754+23G>T (n.3754+23G>T)
c.5668+23G>T (n.5668+23G>T)
c.5395+23G>T (n.5395+23G>T)
c.4849+23G>T (n.4849+23G>T)
c.4576+23G>T (n.4576+23G>T)
c.4027+23G>T (n.4027+23G>T)
c.5941+23G>T (n.5941+23G>T)
c.5665+23G>T (n.5665+23G>T)
 gnomAD v4
9g.115040918C=CA1874116299TNCc.584+23G=
c.3481+23G= (n.3481+23G=)
c.4303+23G= (n.4303+23G=)
c.2335+23G= (n.2335+23G=)
c.991+23G= (n.991+23G=)
c.4350+23G=
c.5392+23G= (n.5392+23G=)
c.4846+23G= (n.4846+23G=)
c.4573+23G= (n.4573+23G=)
n.519+23G=
n.306+23G=
c.1079+23G=
c.5119+23G= (n.5119+23G=)
c.4300+23G= (n.4300+23G=)
c.3754+23G= (n.3754+23G=)
c.5668+23G= (n.5668+23G=)
c.5395+23G= (n.5395+23G=)
c.4849+23G= (n.4849+23G=)
c.4576+23G= (n.4576+23G=)
c.4027+23G= (n.4027+23G=)
c.5941+23G= (n.5941+23G=)
c.5665+23G= (n.5665+23G=)
9g.115040918C>TCA590156302TNCc.584+23G>A
c.3481+23G>A (n.3481+23G>A)
c.4303+23G>A (n.4303+23G>A)
c.2335+23G>A (n.2335+23G>A)
c.991+23G>A (n.991+23G>A)
c.4350+23G>A
c.5392+23G>A (n.5392+23G>A)
c.4846+23G>A (n.4846+23G>A)
c.4573+23G>A (n.4573+23G>A)
n.519+23G>A
n.306+23G>A
c.1079+23G>A
c.5119+23G>A (n.5119+23G>A)
c.4300+23G>A (n.4300+23G>A)
c.3754+23G>A (n.3754+23G>A)
c.5668+23G>A (n.5668+23G>A)
c.5395+23G>A (n.5395+23G>A)
c.4849+23G>A (n.4849+23G>A)
c.4576+23G>A (n.4576+23G>A)
c.4027+23G>A (n.4027+23G>A)
c.5941+23G>A (n.5941+23G>A)
c.5665+23G>A (n.5665+23G>A)
 dbSNP gnomAD v2 gnomAD v4
9g.115040920_115040921insCCACCA2691396659TNCc.584+23_584+24insGGTG
c.3481+23_3481+24insGGTG (n.3481+23_3481+24insGGTG)
c.4303+23_4303+24insGGTG (n.4303+23_4303+24insGGTG)
c.2335+23_2335+24insGGTG (n.2335+23_2335+24insGGTG)
c.991+23_991+24insGGTG (n.991+23_991+24insGGTG)
c.4350+23_4350+24insGGTG
c.5392+23_5392+24insGGTG (n.5392+23_5392+24insGGTG)
c.4846+23_4846+24insGGTG (n.4846+23_4846+24insGGTG)
c.4573+23_4573+24insGGTG (n.4573+23_4573+24insGGTG)
n.519+23_519+24insGGTG
n.306+23_306+24insGGTG
c.1079+23_1079+24insGGTG
c.5119+23_5119+24insGGTG (n.5119+23_5119+24insGGTG)
c.4300+23_4300+24insGGTG (n.4300+23_4300+24insGGTG)
c.3754+23_3754+24insGGTG (n.3754+23_3754+24insGGTG)
c.5668+23_5668+24insGGTG (n.5668+23_5668+24insGGTG)
c.5395+23_5395+24insGGTG (n.5395+23_5395+24insGGTG)
c.4849+23_4849+24insGGTG (n.4849+23_4849+24insGGTG)
c.4576+23_4576+24insGGTG (n.4576+23_4576+24insGGTG)
c.4027+23_4027+24insGGTG (n.4027+23_4027+24insGGTG)
c.5941+23_5941+24insGGTG (n.5941+23_5941+24insGGTG)
c.5665+23_5665+24insGGTG (n.5665+23_5665+24insGGTG)
 dbSNP gnomAD v4
9g.115040919A=CA1874116300TNCc.584+22T=
c.3481+22T= (n.3481+22T=)
c.4303+22T= (n.4303+22T=)
c.2335+22T= (n.2335+22T=)
c.991+22T= (n.991+22T=)
c.4350+22T=
c.5392+22T= (n.5392+22T=)
c.4846+22T= (n.4846+22T=)
c.4573+22T= (n.4573+22T=)
n.519+22T=
n.306+22T=
c.1079+22T=
c.5119+22T= (n.5119+22T=)
c.4300+22T= (n.4300+22T=)
c.3754+22T= (n.3754+22T=)
c.5668+22T= (n.5668+22T=)
c.5395+22T= (n.5395+22T=)
c.4849+22T= (n.4849+22T=)
c.4576+22T= (n.4576+22T=)
c.4027+22T= (n.4027+22T=)
c.5941+22T= (n.5941+22T=)
c.5665+22T= (n.5665+22T=)
9g.115040919A>GCA590156304TNCc.584+22T>C
c.3481+22T>C (n.3481+22T>C)
c.4303+22T>C (n.4303+22T>C)
c.2335+22T>C (n.2335+22T>C)
c.991+22T>C (n.991+22T>C)
c.4350+22T>C
c.5392+22T>C (n.5392+22T>C)
c.4846+22T>C (n.4846+22T>C)
c.4573+22T>C (n.4573+22T>C)
n.519+22T>C
n.306+22T>C
c.1079+22T>C
c.5119+22T>C (n.5119+22T>C)
c.4300+22T>C (n.4300+22T>C)
c.3754+22T>C (n.3754+22T>C)
c.5668+22T>C (n.5668+22T>C)
c.5395+22T>C (n.5395+22T>C)
c.4849+22T>C (n.4849+22T>C)
c.4576+22T>C (n.4576+22T>C)
c.4027+22T>C (n.4027+22T>C)
c.5941+22T>C (n.5941+22T>C)
c.5665+22T>C (n.5665+22T>C)
 dbSNP gnomAD v2 gnomAD v4
9g.115040921_115040922insAACACA2691396661TNCc.584+22_584+23insTTGT
c.3481+22_3481+23insTTGT (n.3481+22_3481+23insTTGT)
c.4303+22_4303+23insTTGT (n.4303+22_4303+23insTTGT)
c.2335+22_2335+23insTTGT (n.2335+22_2335+23insTTGT)
c.991+22_991+23insTTGT (n.991+22_991+23insTTGT)
c.4350+22_4350+23insTTGT
c.5392+22_5392+23insTTGT (n.5392+22_5392+23insTTGT)
c.4846+22_4846+23insTTGT (n.4846+22_4846+23insTTGT)
c.4573+22_4573+23insTTGT (n.4573+22_4573+23insTTGT)
n.519+22_519+23insTTGT
n.306+22_306+23insTTGT
c.1079+22_1079+23insTTGT
c.5119+22_5119+23insTTGT (n.5119+22_5119+23insTTGT)
c.4300+22_4300+23insTTGT (n.4300+22_4300+23insTTGT)
c.3754+22_3754+23insTTGT (n.3754+22_3754+23insTTGT)
c.5668+22_5668+23insTTGT (n.5668+22_5668+23insTTGT)
c.5395+22_5395+23insTTGT (n.5395+22_5395+23insTTGT)
c.4849+22_4849+23insTTGT (n.4849+22_4849+23insTTGT)
c.4576+22_4576+23insTTGT (n.4576+22_4576+23insTTGT)
c.4027+22_4027+23insTTGT (n.4027+22_4027+23insTTGT)
c.5941+22_5941+23insTTGT (n.5941+22_5941+23insTTGT)
c.5665+22_5665+23insTTGT (n.5665+22_5665+23insTTGT)
 gnomAD v4
9g.115040920C>ACA2691396662TNCc.584+21G>T
c.3481+21G>T (n.3481+21G>T)
c.4303+21G>T (n.4303+21G>T)
c.2335+21G>T (n.2335+21G>T)
c.991+21G>T (n.991+21G>T)
c.4350+21G>T
c.5392+21G>T (n.5392+21G>T)
c.4846+21G>T (n.4846+21G>T)
c.4573+21G>T (n.4573+21G>T)
n.519+21G>T
n.306+21G>T
c.1079+21G>T
c.5119+21G>T (n.5119+21G>T)
c.4300+21G>T (n.4300+21G>T)
c.3754+21G>T (n.3754+21G>T)
c.5668+21G>T (n.5668+21G>T)
c.5395+21G>T (n.5395+21G>T)
c.4849+21G>T (n.4849+21G>T)
c.4576+21G>T (n.4576+21G>T)
c.4027+21G>T (n.4027+21G>T)
c.5941+21G>T (n.5941+21G>T)
c.5665+21G>T (n.5665+21G>T)
 gnomAD v4
9g.115040920C=CA1874116301TNCc.584+21G=
c.3481+21G= (n.3481+21G=)
c.4303+21G= (n.4303+21G=)
c.2335+21G= (n.2335+21G=)
c.991+21G= (n.991+21G=)
c.4350+21G=
c.5392+21G= (n.5392+21G=)
c.4846+21G= (n.4846+21G=)
c.4573+21G= (n.4573+21G=)
n.519+21G=
n.306+21G=
c.1079+21G=
c.5119+21G= (n.5119+21G=)
c.4300+21G= (n.4300+21G=)
c.3754+21G= (n.3754+21G=)
c.5668+21G= (n.5668+21G=)
c.5395+21G= (n.5395+21G=)
c.4849+21G= (n.4849+21G=)
c.4576+21G= (n.4576+21G=)
c.4027+21G= (n.4027+21G=)
c.5941+21G= (n.5941+21G=)
c.5665+21G= (n.5665+21G=)
9g.115040920C>TCA590156307TNCc.584+21G>A
c.3481+21G>A (n.3481+21G>A)
c.4303+21G>A (n.4303+21G>A)
c.2335+21G>A (n.2335+21G>A)
c.991+21G>A (n.991+21G>A)
c.4350+21G>A
c.5392+21G>A (n.5392+21G>A)
c.4846+21G>A (n.4846+21G>A)
c.4573+21G>A (n.4573+21G>A)
n.519+21G>A
n.306+21G>A
c.1079+21G>A
c.5119+21G>A (n.5119+21G>A)
c.4300+21G>A (n.4300+21G>A)
c.3754+21G>A (n.3754+21G>A)
c.5668+21G>A (n.5668+21G>A)
c.5395+21G>A (n.5395+21G>A)
c.4849+21G>A (n.4849+21G>A)
c.4576+21G>A (n.4576+21G>A)
c.4027+21G>A (n.4027+21G>A)
c.5941+21G>A (n.5941+21G>A)
c.5665+21G>A (n.5665+21G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.115040922_115040923insTCACCA2720687557TNCc.584+21_584+22insAGTG
c.3481+21_3481+22insAGTG (n.3481+21_3481+22insAGTG)
c.4303+21_4303+22insAGTG (n.4303+21_4303+22insAGTG)
c.2335+21_2335+22insAGTG (n.2335+21_2335+22insAGTG)
c.991+21_991+22insAGTG (n.991+21_991+22insAGTG)
c.4350+21_4350+22insAGTG
c.5392+21_5392+22insAGTG (n.5392+21_5392+22insAGTG)
c.4846+21_4846+22insAGTG (n.4846+21_4846+22insAGTG)
c.4573+21_4573+22insAGTG (n.4573+21_4573+22insAGTG)
n.519+21_519+22insAGTG
n.306+21_306+22insAGTG
c.1079+21_1079+22insAGTG
c.5119+21_5119+22insAGTG (n.5119+21_5119+22insAGTG)
c.4300+21_4300+22insAGTG (n.4300+21_4300+22insAGTG)
c.3754+21_3754+22insAGTG (n.3754+21_3754+22insAGTG)
c.5668+21_5668+22insAGTG (n.5668+21_5668+22insAGTG)
c.5395+21_5395+22insAGTG (n.5395+21_5395+22insAGTG)
c.4849+21_4849+22insAGTG (n.4849+21_4849+22insAGTG)
c.4576+21_4576+22insAGTG (n.4576+21_4576+22insAGTG)
c.4027+21_4027+22insAGTG (n.4027+21_4027+22insAGTG)
c.5941+21_5941+22insAGTG (n.5941+21_5941+22insAGTG)
c.5665+21_5665+22insAGTG (n.5665+21_5665+22insAGTG)
 dbSNP
9g.115040925_115040926insGACACA2691396664TNCc.584+18_584+19insCTGT
c.3481+18_3481+19insCTGT (n.3481+18_3481+19insCTGT)
c.4303+18_4303+19insCTGT (n.4303+18_4303+19insCTGT)
c.2335+18_2335+19insCTGT (n.2335+18_2335+19insCTGT)
c.991+18_991+19insCTGT (n.991+18_991+19insCTGT)
c.4350+18_4350+19insCTGT
c.5392+18_5392+19insCTGT (n.5392+18_5392+19insCTGT)
c.4846+18_4846+19insCTGT (n.4846+18_4846+19insCTGT)
c.4573+18_4573+19insCTGT (n.4573+18_4573+19insCTGT)
n.519+18_519+19insCTGT
n.306+18_306+19insCTGT
c.1079+18_1079+19insCTGT
c.5119+18_5119+19insCTGT (n.5119+18_5119+19insCTGT)
c.4300+18_4300+19insCTGT (n.4300+18_4300+19insCTGT)
c.3754+18_3754+19insCTGT (n.3754+18_3754+19insCTGT)
c.5668+18_5668+19insCTGT (n.5668+18_5668+19insCTGT)
c.5395+18_5395+19insCTGT (n.5395+18_5395+19insCTGT)
c.4849+18_4849+19insCTGT (n.4849+18_4849+19insCTGT)
c.4576+18_4576+19insCTGT (n.4576+18_4576+19insCTGT)
c.4027+18_4027+19insCTGT (n.4027+18_4027+19insCTGT)
c.5941+18_5941+19insCTGT (n.5941+18_5941+19insCTGT)
c.5665+18_5665+19insCTGT (n.5665+18_5665+19insCTGT)
 gnomAD v4
9g.115040925_115040926insTACACA2691396665TNCc.584+18_584+19insATGT
c.3481+18_3481+19insATGT (n.3481+18_3481+19insATGT)
c.4303+18_4303+19insATGT (n.4303+18_4303+19insATGT)
c.2335+18_2335+19insATGT (n.2335+18_2335+19insATGT)
c.991+18_991+19insATGT (n.991+18_991+19insATGT)
c.4350+18_4350+19insATGT
c.5392+18_5392+19insATGT (n.5392+18_5392+19insATGT)
c.4846+18_4846+19insATGT (n.4846+18_4846+19insATGT)
c.4573+18_4573+19insATGT (n.4573+18_4573+19insATGT)
n.519+18_519+19insATGT
n.306+18_306+19insATGT
c.1079+18_1079+19insATGT
c.5119+18_5119+19insATGT (n.5119+18_5119+19insATGT)
c.4300+18_4300+19insATGT (n.4300+18_4300+19insATGT)
c.3754+18_3754+19insATGT (n.3754+18_3754+19insATGT)
c.5668+18_5668+19insATGT (n.5668+18_5668+19insATGT)
c.5395+18_5395+19insATGT (n.5395+18_5395+19insATGT)
c.4849+18_4849+19insATGT (n.4849+18_4849+19insATGT)
c.4576+18_4576+19insATGT (n.4576+18_4576+19insATGT)
c.4027+18_4027+19insATGT (n.4027+18_4027+19insATGT)
c.5941+18_5941+19insATGT (n.5941+18_5941+19insATGT)
c.5665+18_5665+19insATGT (n.5665+18_5665+19insATGT)
 gnomAD v4
9g.115040923_115040926dupCA2691396663TNCc.584+15_584+18dup
c.3481+15_3481+18dup (n.3481+15_3481+18dup)
c.4303+15_4303+18dup (n.4303+15_4303+18dup)
c.2335+15_2335+18dup (n.2335+15_2335+18dup)
c.991+15_991+18dup (n.991+15_991+18dup)
c.4350+15_4350+18dup
c.5392+15_5392+18dup (n.5392+15_5392+18dup)
c.4846+15_4846+18dup (n.4846+15_4846+18dup)
c.4573+15_4573+18dup (n.4573+15_4573+18dup)
n.519+15_519+18dup
n.306+15_306+18dup
c.1079+15_1079+18dup
c.5119+15_5119+18dup (n.5119+15_5119+18dup)
c.4300+15_4300+18dup (n.4300+15_4300+18dup)
c.3754+15_3754+18dup (n.3754+15_3754+18dup)
c.5668+15_5668+18dup (n.5668+15_5668+18dup)
c.5395+15_5395+18dup (n.5395+15_5395+18dup)
c.4849+15_4849+18dup (n.4849+15_4849+18dup)
c.4576+15_4576+18dup (n.4576+15_4576+18dup)
c.4027+15_4027+18dup (n.4027+15_4027+18dup)
c.5941+15_5941+18dup (n.5941+15_5941+18dup)
c.5665+15_5665+18dup (n.5665+15_5665+18dup)
 dbSNP gnomAD v4
9g.115040924C=CA1874116302TNCc.584+17G=
c.3481+17G= (n.3481+17G=)
c.4303+17G= (n.4303+17G=)
c.2335+17G= (n.2335+17G=)
c.991+17G= (n.991+17G=)
c.4350+17G=
c.5392+17G= (n.5392+17G=)
c.4846+17G= (n.4846+17G=)
c.4573+17G= (n.4573+17G=)
n.519+17G=
n.306+17G=
c.1079+17G=
c.5119+17G= (n.5119+17G=)
c.4300+17G= (n.4300+17G=)
c.3754+17G= (n.3754+17G=)
c.5668+17G= (n.5668+17G=)
c.5395+17G= (n.5395+17G=)
c.4849+17G= (n.4849+17G=)
c.4576+17G= (n.4576+17G=)
c.4027+17G= (n.4027+17G=)
c.5941+17G= (n.5941+17G=)
c.5665+17G= (n.5665+17G=)
9g.115040925_115040926insCCCACA2720687570TNCc.584+17_584+18insGGTG
c.3481+17_3481+18insGGTG (n.3481+17_3481+18insGGTG)
c.4303+17_4303+18insGGTG (n.4303+17_4303+18insGGTG)
c.2335+17_2335+18insGGTG (n.2335+17_2335+18insGGTG)
c.991+17_991+18insGGTG (n.991+17_991+18insGGTG)
c.4350+17_4350+18insGGTG
c.5392+17_5392+18insGGTG (n.5392+17_5392+18insGGTG)
c.4846+17_4846+18insGGTG (n.4846+17_4846+18insGGTG)
c.4573+17_4573+18insGGTG (n.4573+17_4573+18insGGTG)
n.519+17_519+18insGGTG
n.306+17_306+18insGGTG
c.1079+17_1079+18insGGTG
c.5119+17_5119+18insGGTG (n.5119+17_5119+18insGGTG)
c.4300+17_4300+18insGGTG (n.4300+17_4300+18insGGTG)
c.3754+17_3754+18insGGTG (n.3754+17_3754+18insGGTG)
c.5668+17_5668+18insGGTG (n.5668+17_5668+18insGGTG)
c.5395+17_5395+18insGGTG (n.5395+17_5395+18insGGTG)
c.4849+17_4849+18insGGTG (n.4849+17_4849+18insGGTG)
c.4576+17_4576+18insGGTG (n.4576+17_4576+18insGGTG)
c.4027+17_4027+18insGGTG (n.4027+17_4027+18insGGTG)
c.5941+17_5941+18insGGTG (n.5941+17_5941+18insGGTG)
c.5665+17_5665+18insGGTG (n.5665+17_5665+18insGGTG)
 dbSNP
9g.115040925_115040926insCAAACA198685189TNCc.584+16_584+17insTTGT
c.3481+16_3481+17insTTGT (n.3481+16_3481+17insTTGT)
c.4303+16_4303+17insTTGT (n.4303+16_4303+17insTTGT)
c.2335+16_2335+17insTTGT (n.2335+16_2335+17insTTGT)
c.991+16_991+17insTTGT (n.991+16_991+17insTTGT)
c.4350+16_4350+17insTTGT
c.5392+16_5392+17insTTGT (n.5392+16_5392+17insTTGT)
c.4846+16_4846+17insTTGT (n.4846+16_4846+17insTTGT)
c.4573+16_4573+17insTTGT (n.4573+16_4573+17insTTGT)
n.519+16_519+17insTTGT
n.306+16_306+17insTTGT
c.1079+16_1079+17insTTGT
c.5119+16_5119+17insTTGT (n.5119+16_5119+17insTTGT)
c.4300+16_4300+17insTTGT (n.4300+16_4300+17insTTGT)
c.3754+16_3754+17insTTGT (n.3754+16_3754+17insTTGT)
c.5668+16_5668+17insTTGT (n.5668+16_5668+17insTTGT)
c.5395+16_5395+17insTTGT (n.5395+16_5395+17insTTGT)
c.4849+16_4849+17insTTGT (n.4849+16_4849+17insTTGT)
c.4576+16_4576+17insTTGT (n.4576+16_4576+17insTTGT)
c.4027+16_4027+17insTTGT (n.4027+16_4027+17insTTGT)
c.5941+16_5941+17insTTGT (n.5941+16_5941+17insTTGT)
c.5665+16_5665+17insTTGT (n.5665+16_5665+17insTTGT)
 dbSNP gnomAD v2 gnomAD v4
9g.115040925_115040926insCATACA2720460165TNCc.584+16_584+17insATGT
c.3481+16_3481+17insATGT (n.3481+16_3481+17insATGT)
c.4303+16_4303+17insATGT (n.4303+16_4303+17insATGT)
c.2335+16_2335+17insATGT (n.2335+16_2335+17insATGT)
c.991+16_991+17insATGT (n.991+16_991+17insATGT)
c.4350+16_4350+17insATGT
c.5392+16_5392+17insATGT (n.5392+16_5392+17insATGT)
c.4846+16_4846+17insATGT (n.4846+16_4846+17insATGT)
c.4573+16_4573+17insATGT (n.4573+16_4573+17insATGT)
n.519+16_519+17insATGT
n.306+16_306+17insATGT
c.1079+16_1079+17insATGT
c.5119+16_5119+17insATGT (n.5119+16_5119+17insATGT)
c.4300+16_4300+17insATGT (n.4300+16_4300+17insATGT)
c.3754+16_3754+17insATGT (n.3754+16_3754+17insATGT)
c.5668+16_5668+17insATGT (n.5668+16_5668+17insATGT)
c.5395+16_5395+17insATGT (n.5395+16_5395+17insATGT)
c.4849+16_4849+17insATGT (n.4849+16_4849+17insATGT)
c.4576+16_4576+17insATGT (n.4576+16_4576+17insATGT)
c.4027+16_4027+17insATGT (n.4027+16_4027+17insATGT)
c.5941+16_5941+17insATGT (n.5941+16_5941+17insATGT)
c.5665+16_5665+17insATGT (n.5665+16_5665+17insATGT)
 dbSNP
9g.115040925_115040926insCACAAACA5207669TNCc.584+16_584+17insTTGTGT
c.3481+16_3481+17insTTGTGT (n.3481+16_3481+17insTTGTGT)
c.4303+16_4303+17insTTGTGT (n.4303+16_4303+17insTTGTGT)
c.2335+16_2335+17insTTGTGT (n.2335+16_2335+17insTTGTGT)
c.991+16_991+17insTTGTGT (n.991+16_991+17insTTGTGT)
c.4350+16_4350+17insTTGTGT
c.5392+16_5392+17insTTGTGT (n.5392+16_5392+17insTTGTGT)
c.4846+16_4846+17insTTGTGT (n.4846+16_4846+17insTTGTGT)
c.4573+16_4573+17insTTGTGT (n.4573+16_4573+17insTTGTGT)
n.519+16_519+17insTTGTGT
n.306+16_306+17insTTGTGT
c.1079+16_1079+17insTTGTGT
c.5119+16_5119+17insTTGTGT (n.5119+16_5119+17insTTGTGT)
c.4300+16_4300+17insTTGTGT (n.4300+16_4300+17insTTGTGT)
c.3754+16_3754+17insTTGTGT (n.3754+16_3754+17insTTGTGT)
c.5668+16_5668+17insTTGTGT (n.5668+16_5668+17insTTGTGT)
c.5395+16_5395+17insTTGTGT (n.5395+16_5395+17insTTGTGT)
c.4849+16_4849+17insTTGTGT (n.4849+16_4849+17insTTGTGT)
c.4576+16_4576+17insTTGTGT (n.4576+16_4576+17insTTGTGT)
c.4027+16_4027+17insTTGTGT (n.4027+16_4027+17insTTGTGT)
c.5941+16_5941+17insTTGTGT (n.5941+16_5941+17insTTGTGT)
c.5665+16_5665+17insTTGTGT (n.5665+16_5665+17insTTGTGT)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115040925_115040926insCACACACACAAACA198685194TNCc.584+16_584+17insTTGTGTGTGTGT
c.3481+16_3481+17insTTGTGTGTGTGT (n.3481+16_3481+17insTTGTGTGTGTGT)
c.4303+16_4303+17insTTGTGTGTGTGT (n.4303+16_4303+17insTTGTGTGTGTGT)
c.2335+16_2335+17insTTGTGTGTGTGT (n.2335+16_2335+17insTTGTGTGTGTGT)
c.991+16_991+17insTTGTGTGTGTGT (n.991+16_991+17insTTGTGTGTGTGT)
c.4350+16_4350+17insTTGTGTGTGTGT
c.5392+16_5392+17insTTGTGTGTGTGT (n.5392+16_5392+17insTTGTGTGTGTGT)
c.4846+16_4846+17insTTGTGTGTGTGT (n.4846+16_4846+17insTTGTGTGTGTGT)
c.4573+16_4573+17insTTGTGTGTGTGT (n.4573+16_4573+17insTTGTGTGTGTGT)
n.519+16_519+17insTTGTGTGTGTGT
n.306+16_306+17insTTGTGTGTGTGT
c.1079+16_1079+17insTTGTGTGTGTGT
c.5119+16_5119+17insTTGTGTGTGTGT (n.5119+16_5119+17insTTGTGTGTGTGT)
c.4300+16_4300+17insTTGTGTGTGTGT (n.4300+16_4300+17insTTGTGTGTGTGT)
c.3754+16_3754+17insTTGTGTGTGTGT (n.3754+16_3754+17insTTGTGTGTGTGT)
c.5668+16_5668+17insTTGTGTGTGTGT (n.5668+16_5668+17insTTGTGTGTGTGT)
c.5395+16_5395+17insTTGTGTGTGTGT (n.5395+16_5395+17insTTGTGTGTGTGT)
c.4849+16_4849+17insTTGTGTGTGTGT (n.4849+16_4849+17insTTGTGTGTGTGT)
c.4576+16_4576+17insTTGTGTGTGTGT (n.4576+16_4576+17insTTGTGTGTGTGT)
c.4027+16_4027+17insTTGTGTGTGTGT (n.4027+16_4027+17insTTGTGTGTGTGT)
c.5941+16_5941+17insTTGTGTGTGTGT (n.5941+16_5941+17insTTGTGTGTGTGT)
c.5665+16_5665+17insTTGTGTGTGTGT (n.5665+16_5665+17insTTGTGTGTGTGT)
 dbSNP
9g.115040925_115040927delinsAACCA1874116304TNCc.584+14_584+16delinsGTT
c.3481+14_3481+16delinsGTT (n.3481+14_3481+16delinsGTT)
c.4303+14_4303+16delinsGTT (n.4303+14_4303+16delinsGTT)
c.2335+14_2335+16delinsGTT (n.2335+14_2335+16delinsGTT)
c.991+14_991+16delinsGTT (n.991+14_991+16delinsGTT)
c.4350+14_4350+16delinsGTT
c.5392+14_5392+16delinsGTT (n.5392+14_5392+16delinsGTT)
c.4846+14_4846+16delinsGTT (n.4846+14_4846+16delinsGTT)
c.4573+14_4573+16delinsGTT (n.4573+14_4573+16delinsGTT)
n.519+14_519+16delinsGTT
n.306+14_306+16delinsGTT
c.1079+14_1079+16delinsGTT
c.5119+14_5119+16delinsGTT (n.5119+14_5119+16delinsGTT)
c.4300+14_4300+16delinsGTT (n.4300+14_4300+16delinsGTT)
c.3754+14_3754+16delinsGTT (n.3754+14_3754+16delinsGTT)
c.5668+14_5668+16delinsGTT (n.5668+14_5668+16delinsGTT)
c.5395+14_5395+16delinsGTT (n.5395+14_5395+16delinsGTT)
c.4849+14_4849+16delinsGTT (n.4849+14_4849+16delinsGTT)
c.4576+14_4576+16delinsGTT (n.4576+14_4576+16delinsGTT)
c.4027+14_4027+16delinsGTT (n.4027+14_4027+16delinsGTT)
c.5941+14_5941+16delinsGTT (n.5941+14_5941+16delinsGTT)
c.5665+14_5665+16delinsGTT (n.5665+14_5665+16delinsGTT)
9g.115040925_115040929delinsAACCCCA1874116303TNCc.584+12_584+16delinsGGGTT
c.3481+12_3481+16delinsGGGTT (n.3481+12_3481+16delinsGGGTT)
c.4303+12_4303+16delinsGGGTT (n.4303+12_4303+16delinsGGGTT)
c.2335+12_2335+16delinsGGGTT (n.2335+12_2335+16delinsGGGTT)
c.991+12_991+16delinsGGGTT (n.991+12_991+16delinsGGGTT)
c.4350+12_4350+16delinsGGGTT
c.5392+12_5392+16delinsGGGTT (n.5392+12_5392+16delinsGGGTT)
c.4846+12_4846+16delinsGGGTT (n.4846+12_4846+16delinsGGGTT)
c.4573+12_4573+16delinsGGGTT (n.4573+12_4573+16delinsGGGTT)
n.519+12_519+16delinsGGGTT
n.306+12_306+16delinsGGGTT
c.1079+12_1079+16delinsGGGTT
c.5119+12_5119+16delinsGGGTT (n.5119+12_5119+16delinsGGGTT)
c.4300+12_4300+16delinsGGGTT (n.4300+12_4300+16delinsGGGTT)
c.3754+12_3754+16delinsGGGTT (n.3754+12_3754+16delinsGGGTT)
c.5668+12_5668+16delinsGGGTT (n.5668+12_5668+16delinsGGGTT)
c.5395+12_5395+16delinsGGGTT (n.5395+12_5395+16delinsGGGTT)
c.4849+12_4849+16delinsGGGTT (n.4849+12_4849+16delinsGGGTT)
c.4576+12_4576+16delinsGGGTT (n.4576+12_4576+16delinsGGGTT)
c.4027+12_4027+16delinsGGGTT (n.4027+12_4027+16delinsGGGTT)
c.5941+12_5941+16delinsGGGTT (n.5941+12_5941+16delinsGGGTT)
c.5665+12_5665+16delinsGGGTT (n.5665+12_5665+16delinsGGGTT)
9g.115040925_115040926insCCA2691396667TNCc.584+15_584+16insG
c.3481+15_3481+16insG (n.3481+15_3481+16insG)
c.4303+15_4303+16insG (n.4303+15_4303+16insG)
c.2335+15_2335+16insG (n.2335+15_2335+16insG)
c.991+15_991+16insG (n.991+15_991+16insG)
c.4350+15_4350+16insG
c.5392+15_5392+16insG (n.5392+15_5392+16insG)
c.4846+15_4846+16insG (n.4846+15_4846+16insG)
c.4573+15_4573+16insG (n.4573+15_4573+16insG)
n.519+15_519+16insG
n.306+15_306+16insG
c.1079+15_1079+16insG
c.5119+15_5119+16insG (n.5119+15_5119+16insG)
c.4300+15_4300+16insG (n.4300+15_4300+16insG)
c.3754+15_3754+16insG (n.3754+15_3754+16insG)
c.5668+15_5668+16insG (n.5668+15_5668+16insG)
c.5395+15_5395+16insG (n.5395+15_5395+16insG)
c.4849+15_4849+16insG (n.4849+15_4849+16insG)
c.4576+15_4576+16insG (n.4576+15_4576+16insG)
c.4027+15_4027+16insG (n.4027+15_4027+16insG)
c.5941+15_5941+16insG (n.5941+15_5941+16insG)
c.5665+15_5665+16insG (n.5665+15_5665+16insG)
 gnomAD v4
9g.115040925_115040926insCACCCA2720687573TNCc.584+15_584+16insGGTG
c.3481+15_3481+16insGGTG (n.3481+15_3481+16insGGTG)
c.4303+15_4303+16insGGTG (n.4303+15_4303+16insGGTG)
c.2335+15_2335+16insGGTG (n.2335+15_2335+16insGGTG)
c.991+15_991+16insGGTG (n.991+15_991+16insGGTG)
c.4350+15_4350+16insGGTG
c.5392+15_5392+16insGGTG (n.5392+15_5392+16insGGTG)
c.4846+15_4846+16insGGTG (n.4846+15_4846+16insGGTG)
c.4573+15_4573+16insGGTG (n.4573+15_4573+16insGGTG)
n.519+15_519+16insGGTG
n.306+15_306+16insGGTG
c.1079+15_1079+16insGGTG
c.5119+15_5119+16insGGTG (n.5119+15_5119+16insGGTG)
c.4300+15_4300+16insGGTG (n.4300+15_4300+16insGGTG)
c.3754+15_3754+16insGGTG (n.3754+15_3754+16insGGTG)
c.5668+15_5668+16insGGTG (n.5668+15_5668+16insGGTG)
c.5395+15_5395+16insGGTG (n.5395+15_5395+16insGGTG)
c.4849+15_4849+16insGGTG (n.4849+15_4849+16insGGTG)
c.4576+15_4576+16insGGTG (n.4576+15_4576+16insGGTG)
c.4027+15_4027+16insGGTG (n.4027+15_4027+16insGGTG)
c.5941+15_5941+16insGGTG (n.5941+15_5941+16insGGTG)
c.5665+15_5665+16insGGTG (n.5665+15_5665+16insGGTG)
 dbSNP
9g.115040925_115040926insCACGCA2720687572TNCc.584+15_584+16insCGTG
c.3481+15_3481+16insCGTG (n.3481+15_3481+16insCGTG)
c.4303+15_4303+16insCGTG (n.4303+15_4303+16insCGTG)
c.2335+15_2335+16insCGTG (n.2335+15_2335+16insCGTG)
c.991+15_991+16insCGTG (n.991+15_991+16insCGTG)
c.4350+15_4350+16insCGTG
c.5392+15_5392+16insCGTG (n.5392+15_5392+16insCGTG)
c.4846+15_4846+16insCGTG (n.4846+15_4846+16insCGTG)
c.4573+15_4573+16insCGTG (n.4573+15_4573+16insCGTG)
n.519+15_519+16insCGTG
n.306+15_306+16insCGTG
c.1079+15_1079+16insCGTG
c.5119+15_5119+16insCGTG (n.5119+15_5119+16insCGTG)
c.4300+15_4300+16insCGTG (n.4300+15_4300+16insCGTG)
c.3754+15_3754+16insCGTG (n.3754+15_3754+16insCGTG)
c.5668+15_5668+16insCGTG (n.5668+15_5668+16insCGTG)
c.5395+15_5395+16insCGTG (n.5395+15_5395+16insCGTG)
c.4849+15_4849+16insCGTG (n.4849+15_4849+16insCGTG)
c.4576+15_4576+16insCGTG (n.4576+15_4576+16insCGTG)
c.4027+15_4027+16insCGTG (n.4027+15_4027+16insCGTG)
c.5941+15_5941+16insCGTG (n.5941+15_5941+16insCGTG)
c.5665+15_5665+16insCGTG (n.5665+15_5665+16insCGTG)
 dbSNP
9g.115040926_115040927delCA5207670TNCc.584+14_584+15del
c.3481+14_3481+15del (n.3481+14_3481+15del)
c.4303+14_4303+15del (n.4303+14_4303+15del)
c.2335+14_2335+15del (n.2335+14_2335+15del)
c.991+14_991+15del (n.991+14_991+15del)
c.4350+14_4350+15del
c.5392+14_5392+15del (n.5392+14_5392+15del)
c.4846+14_4846+15del (n.4846+14_4846+15del)
c.4573+14_4573+15del (n.4573+14_4573+15del)
n.519+14_519+15del
n.306+14_306+15del
c.1079+14_1079+15del
c.5119+14_5119+15del (n.5119+14_5119+15del)
c.4300+14_4300+15del (n.4300+14_4300+15del)
c.3754+14_3754+15del (n.3754+14_3754+15del)
c.5668+14_5668+15del (n.5668+14_5668+15del)
c.5395+14_5395+15del (n.5395+14_5395+15del)
c.4849+14_4849+15del (n.4849+14_4849+15del)
c.4576+14_4576+15del (n.4576+14_4576+15del)
c.4027+14_4027+15del (n.4027+14_4027+15del)
c.5941+14_5941+15del (n.5941+14_5941+15del)
c.5665+14_5665+15del (n.5665+14_5665+15del)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115040926_115040929delCA198685197TNCc.584+12_584+15del
c.3481+12_3481+15del (n.3481+12_3481+15del)
c.4303+12_4303+15del (n.4303+12_4303+15del)
c.2335+12_2335+15del (n.2335+12_2335+15del)
c.991+12_991+15del (n.991+12_991+15del)
c.4350+12_4350+15del
c.5392+12_5392+15del (n.5392+12_5392+15del)
c.4846+12_4846+15del (n.4846+12_4846+15del)
c.4573+12_4573+15del (n.4573+12_4573+15del)
n.519+12_519+15del
n.306+12_306+15del
c.1079+12_1079+15del
c.5119+12_5119+15del (n.5119+12_5119+15del)
c.4300+12_4300+15del (n.4300+12_4300+15del)
c.3754+12_3754+15del (n.3754+12_3754+15del)
c.5668+12_5668+15del (n.5668+12_5668+15del)
c.5395+12_5395+15del (n.5395+12_5395+15del)
c.4849+12_4849+15del (n.4849+12_4849+15del)
c.4576+12_4576+15del (n.4576+12_4576+15del)
c.4027+12_4027+15del (n.4027+12_4027+15del)
c.5941+12_5941+15del (n.5941+12_5941+15del)
c.5665+12_5665+15del (n.5665+12_5665+15del)
 dbSNP gnomAD v4
9g.115040927_115040928insAGCCA2691396669TNCc.584+14_584+15insCTG
c.3481+14_3481+15insCTG (n.3481+14_3481+15insCTG)
c.4303+14_4303+15insCTG (n.4303+14_4303+15insCTG)
c.2335+14_2335+15insCTG (n.2335+14_2335+15insCTG)
c.991+14_991+15insCTG (n.991+14_991+15insCTG)
c.4350+14_4350+15insCTG
c.5392+14_5392+15insCTG (n.5392+14_5392+15insCTG)
c.4846+14_4846+15insCTG (n.4846+14_4846+15insCTG)
c.4573+14_4573+15insCTG (n.4573+14_4573+15insCTG)
n.519+14_519+15insCTG
n.306+14_306+15insCTG
c.1079+14_1079+15insCTG
c.5119+14_5119+15insCTG (n.5119+14_5119+15insCTG)
c.4300+14_4300+15insCTG (n.4300+14_4300+15insCTG)
c.3754+14_3754+15insCTG (n.3754+14_3754+15insCTG)
c.5668+14_5668+15insCTG (n.5668+14_5668+15insCTG)
c.5395+14_5395+15insCTG (n.5395+14_5395+15insCTG)
c.4849+14_4849+15insCTG (n.4849+14_4849+15insCTG)
c.4576+14_4576+15insCTG (n.4576+14_4576+15insCTG)
c.4027+14_4027+15insCTG (n.4027+14_4027+15insCTG)
c.5941+14_5941+15insCTG (n.5941+14_5941+15insCTG)
c.5665+14_5665+15insCTG (n.5665+14_5665+15insCTG)
 gnomAD v4
9g.115040930dupCA2691396668TNCc.584+14dup
c.3481+14dup (n.3481+14dup)
c.4303+14dup (n.4303+14dup)
c.2335+14dup (n.2335+14dup)
c.991+14dup (n.991+14dup)
c.4350+14dup
c.5392+14dup (n.5392+14dup)
c.4846+14dup (n.4846+14dup)
c.4573+14dup (n.4573+14dup)
n.519+14dup
n.306+14dup
c.1079+14dup
c.5119+14dup (n.5119+14dup)
c.4300+14dup (n.4300+14dup)
c.3754+14dup (n.3754+14dup)
c.5668+14dup (n.5668+14dup)
c.5395+14dup (n.5395+14dup)
c.4849+14dup (n.4849+14dup)
c.4576+14dup (n.4576+14dup)
c.4027+14dup (n.4027+14dup)
c.5941+14dup (n.5941+14dup)
c.5665+14dup (n.5665+14dup)
 gnomAD v4
9g.115040927_115040928insAAACA2691396672TNCc.584+13_584+14insTTT
c.3481+13_3481+14insTTT (n.3481+13_3481+14insTTT)
c.4303+13_4303+14insTTT (n.4303+13_4303+14insTTT)
c.2335+13_2335+14insTTT (n.2335+13_2335+14insTTT)
c.991+13_991+14insTTT (n.991+13_991+14insTTT)
c.4350+13_4350+14insTTT
c.5392+13_5392+14insTTT (n.5392+13_5392+14insTTT)
c.4846+13_4846+14insTTT (n.4846+13_4846+14insTTT)
c.4573+13_4573+14insTTT (n.4573+13_4573+14insTTT)
n.519+13_519+14insTTT
n.306+13_306+14insTTT
c.1079+13_1079+14insTTT
c.5119+13_5119+14insTTT (n.5119+13_5119+14insTTT)
c.4300+13_4300+14insTTT (n.4300+13_4300+14insTTT)
c.3754+13_3754+14insTTT (n.3754+13_3754+14insTTT)
c.5668+13_5668+14insTTT (n.5668+13_5668+14insTTT)
c.5395+13_5395+14insTTT (n.5395+13_5395+14insTTT)
c.4849+13_4849+14insTTT (n.4849+13_4849+14insTTT)
c.4576+13_4576+14insTTT (n.4576+13_4576+14insTTT)
c.4027+13_4027+14insTTT (n.4027+13_4027+14insTTT)
c.5941+13_5941+14insTTT (n.5941+13_5941+14insTTT)
c.5665+13_5665+14insTTT (n.5665+13_5665+14insTTT)
 gnomAD v4
9g.115040927_115040928insACACA2691396673TNCc.584+13_584+14insTGT
c.3481+13_3481+14insTGT (n.3481+13_3481+14insTGT)
c.4303+13_4303+14insTGT (n.4303+13_4303+14insTGT)
c.2335+13_2335+14insTGT (n.2335+13_2335+14insTGT)
c.991+13_991+14insTGT (n.991+13_991+14insTGT)
c.4350+13_4350+14insTGT
c.5392+13_5392+14insTGT (n.5392+13_5392+14insTGT)
c.4846+13_4846+14insTGT (n.4846+13_4846+14insTGT)
c.4573+13_4573+14insTGT (n.4573+13_4573+14insTGT)
n.519+13_519+14insTGT
n.306+13_306+14insTGT
c.1079+13_1079+14insTGT
c.5119+13_5119+14insTGT (n.5119+13_5119+14insTGT)
c.4300+13_4300+14insTGT (n.4300+13_4300+14insTGT)
c.3754+13_3754+14insTGT (n.3754+13_3754+14insTGT)
c.5668+13_5668+14insTGT (n.5668+13_5668+14insTGT)
c.5395+13_5395+14insTGT (n.5395+13_5395+14insTGT)
c.4849+13_4849+14insTGT (n.4849+13_4849+14insTGT)
c.4576+13_4576+14insTGT (n.4576+13_4576+14insTGT)
c.4027+13_4027+14insTGT (n.4027+13_4027+14insTGT)
c.5941+13_5941+14insTGT (n.5941+13_5941+14insTGT)
c.5665+13_5665+14insTGT (n.5665+13_5665+14insTGT)
 gnomAD v4
9g.115040928C>ACA198685201TNCc.584+13G>T
c.3481+13G>T (n.3481+13G>T)
c.4303+13G>T (n.4303+13G>T)
c.2335+13G>T (n.2335+13G>T)
c.991+13G>T (n.991+13G>T)
c.4350+13G>T
c.5392+13G>T (n.5392+13G>T)
c.4846+13G>T (n.4846+13G>T)
c.4573+13G>T (n.4573+13G>T)
n.519+13G>T
n.306+13G>T
c.1079+13G>T
c.5119+13G>T (n.5119+13G>T)
c.4300+13G>T (n.4300+13G>T)
c.3754+13G>T (n.3754+13G>T)
c.5668+13G>T (n.5668+13G>T)
c.5395+13G>T (n.5395+13G>T)
c.4849+13G>T (n.4849+13G>T)
c.4576+13G>T (n.4576+13G>T)
c.4027+13G>T (n.4027+13G>T)
c.5941+13G>T (n.5941+13G>T)
c.5665+13G>T (n.5665+13G>T)
 dbSNP gnomAD v4
9g.115040928C=CA1874116305TNCc.584+13G=
c.3481+13G= (n.3481+13G=)
c.4303+13G= (n.4303+13G=)
c.2335+13G= (n.2335+13G=)
c.991+13G= (n.991+13G=)
c.4350+13G=
c.5392+13G= (n.5392+13G=)
c.4846+13G= (n.4846+13G=)
c.4573+13G= (n.4573+13G=)
n.519+13G=
n.306+13G=
c.1079+13G=
c.5119+13G= (n.5119+13G=)
c.4300+13G= (n.4300+13G=)
c.3754+13G= (n.3754+13G=)
c.5668+13G= (n.5668+13G=)
c.5395+13G= (n.5395+13G=)
c.4849+13G= (n.4849+13G=)
c.4576+13G= (n.4576+13G=)
c.4027+13G= (n.4027+13G=)
c.5941+13G= (n.5941+13G=)
c.5665+13G= (n.5665+13G=)
9g.115040928C>TCA590156311TNCc.584+13G>A
c.3481+13G>A (n.3481+13G>A)
c.4303+13G>A (n.4303+13G>A)
c.2335+13G>A (n.2335+13G>A)
c.991+13G>A (n.991+13G>A)
c.4350+13G>A
c.5392+13G>A (n.5392+13G>A)
c.4846+13G>A (n.4846+13G>A)
c.4573+13G>A (n.4573+13G>A)
n.519+13G>A
n.306+13G>A
c.1079+13G>A
c.5119+13G>A (n.5119+13G>A)
c.4300+13G>A (n.4300+13G>A)
c.3754+13G>A (n.3754+13G>A)
c.5668+13G>A (n.5668+13G>A)
c.5395+13G>A (n.5395+13G>A)
c.4849+13G>A (n.4849+13G>A)
c.4576+13G>A (n.4576+13G>A)
c.4027+13G>A (n.4027+13G>A)
c.5941+13G>A (n.5941+13G>A)
c.5665+13G>A (n.5665+13G>A)
 dbSNP gnomAD v2 gnomAD v4
9g.115040928_115040931delinsCCCACA1874116306TNCc.584+10_584+13delinsTGGG
c.3481+10_3481+13delinsTGGG (n.3481+10_3481+13delinsTGGG)
c.4303+10_4303+13delinsTGGG (n.4303+10_4303+13delinsTGGG)
c.2335+10_2335+13delinsTGGG (n.2335+10_2335+13delinsTGGG)
c.991+10_991+13delinsTGGG (n.991+10_991+13delinsTGGG)
c.4350+10_4350+13delinsTGGG
c.5392+10_5392+13delinsTGGG (n.5392+10_5392+13delinsTGGG)
c.4846+10_4846+13delinsTGGG (n.4846+10_4846+13delinsTGGG)
c.4573+10_4573+13delinsTGGG (n.4573+10_4573+13delinsTGGG)
n.519+10_519+13delinsTGGG
n.306+10_306+13delinsTGGG
c.1079+10_1079+13delinsTGGG
c.5119+10_5119+13delinsTGGG (n.5119+10_5119+13delinsTGGG)
c.4300+10_4300+13delinsTGGG (n.4300+10_4300+13delinsTGGG)
c.3754+10_3754+13delinsTGGG (n.3754+10_3754+13delinsTGGG)
c.5668+10_5668+13delinsTGGG (n.5668+10_5668+13delinsTGGG)
c.5395+10_5395+13delinsTGGG (n.5395+10_5395+13delinsTGGG)
c.4849+10_4849+13delinsTGGG (n.4849+10_4849+13delinsTGGG)
c.4576+10_4576+13delinsTGGG (n.4576+10_4576+13delinsTGGG)
c.4027+10_4027+13delinsTGGG (n.4027+10_4027+13delinsTGGG)
c.5941+10_5941+13delinsTGGG (n.5941+10_5941+13delinsTGGG)
c.5665+10_5665+13delinsTGGG (n.5665+10_5665+13delinsTGGG)
9g.115040929C>ACA5207672TNCc.584+12G>T
c.3481+12G>T (n.3481+12G>T)
c.4303+12G>T (n.4303+12G>T)
c.2335+12G>T (n.2335+12G>T)
c.991+12G>T (n.991+12G>T)
c.4350+12G>T
c.5392+12G>T (n.5392+12G>T)
c.4846+12G>T (n.4846+12G>T)
c.4573+12G>T (n.4573+12G>T)
n.519+12G>T
n.306+12G>T
c.1079+12G>T
c.5119+12G>T (n.5119+12G>T)
c.4300+12G>T (n.4300+12G>T)
c.3754+12G>T (n.3754+12G>T)
c.5668+12G>T (n.5668+12G>T)
c.5395+12G>T (n.5395+12G>T)
c.4849+12G>T (n.4849+12G>T)
c.4576+12G>T (n.4576+12G>T)
c.4027+12G>T (n.4027+12G>T)
c.5941+12G>T (n.5941+12G>T)
c.5665+12G>T (n.5665+12G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115040929C=CA1874116307TNCc.584+12G=
c.3481+12G= (n.3481+12G=)
c.4303+12G= (n.4303+12G=)
c.2335+12G= (n.2335+12G=)
c.991+12G= (n.991+12G=)
c.4350+12G=
c.5392+12G= (n.5392+12G=)
c.4846+12G= (n.4846+12G=)
c.4573+12G= (n.4573+12G=)
n.519+12G=
n.306+12G=
c.1079+12G=
c.5119+12G= (n.5119+12G=)
c.4300+12G= (n.4300+12G=)
c.3754+12G= (n.3754+12G=)
c.5668+12G= (n.5668+12G=)
c.5395+12G= (n.5395+12G=)
c.4849+12G= (n.4849+12G=)
c.4576+12G= (n.4576+12G=)
c.4027+12G= (n.4027+12G=)
c.5941+12G= (n.5941+12G=)
c.5665+12G= (n.5665+12G=)
9g.115040929C>TCA5207673TNCc.584+12G>A
c.3481+12G>A (n.3481+12G>A)
c.4303+12G>A (n.4303+12G>A)
c.2335+12G>A (n.2335+12G>A)
c.991+12G>A (n.991+12G>A)
c.4350+12G>A
c.5392+12G>A (n.5392+12G>A)
c.4846+12G>A (n.4846+12G>A)
c.4573+12G>A (n.4573+12G>A)
n.519+12G>A
n.306+12G>A
c.1079+12G>A
c.5119+12G>A (n.5119+12G>A)
c.4300+12G>A (n.4300+12G>A)
c.3754+12G>A (n.3754+12G>A)
c.5668+12G>A (n.5668+12G>A)
c.5395+12G>A (n.5395+12G>A)
c.4849+12G>A (n.4849+12G>A)
c.4576+12G>A (n.4576+12G>A)
c.4027+12G>A (n.4027+12G>A)
c.5941+12G>A (n.5941+12G>A)
c.5665+12G>A (n.5665+12G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115040932_115040934delCA5207671TNCc.584+10_584+12del
c.3481+10_3481+12del (n.3481+10_3481+12del)
c.4303+10_4303+12del (n.4303+10_4303+12del)
c.2335+10_2335+12del (n.2335+10_2335+12del)
c.991+10_991+12del (n.991+10_991+12del)
c.4350+10_4350+12del
c.5392+10_5392+12del (n.5392+10_5392+12del)
c.4846+10_4846+12del (n.4846+10_4846+12del)
c.4573+10_4573+12del (n.4573+10_4573+12del)
n.519+10_519+12del
n.306+10_306+12del
c.1079+10_1079+12del
c.5119+10_5119+12del (n.5119+10_5119+12del)
c.4300+10_4300+12del (n.4300+10_4300+12del)
c.3754+10_3754+12del (n.3754+10_3754+12del)
c.5668+10_5668+12del (n.5668+10_5668+12del)
c.5395+10_5395+12del (n.5395+10_5395+12del)
c.4849+10_4849+12del (n.4849+10_4849+12del)
c.4576+10_4576+12del (n.4576+10_4576+12del)
c.4027+10_4027+12del (n.4027+10_4027+12del)
c.5941+10_5941+12del (n.5941+10_5941+12del)
c.5665+10_5665+12del (n.5665+10_5665+12del)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115040930C>ACA2691396677TNCc.584+11G>T
c.3481+11G>T (n.3481+11G>T)
c.4303+11G>T (n.4303+11G>T)
c.2335+11G>T (n.2335+11G>T)
c.991+11G>T (n.991+11G>T)
c.4350+11G>T
c.5392+11G>T (n.5392+11G>T)
c.4846+11G>T (n.4846+11G>T)
c.4573+11G>T (n.4573+11G>T)
n.519+11G>T
n.306+11G>T
c.1079+11G>T
c.5119+11G>T (n.5119+11G>T)
c.4300+11G>T (n.4300+11G>T)
c.3754+11G>T (n.3754+11G>T)
c.5668+11G>T (n.5668+11G>T)
c.5395+11G>T (n.5395+11G>T)
c.4849+11G>T (n.4849+11G>T)
c.4576+11G>T (n.4576+11G>T)
c.4027+11G>T (n.4027+11G>T)
c.5941+11G>T (n.5941+11G>T)
c.5665+11G>T (n.5665+11G>T)
 gnomAD v4
9g.115040931A=CA1874116308TNCc.584+10T=
c.3481+10T= (n.3481+10T=)
c.4303+10T= (n.4303+10T=)
c.2335+10T= (n.2335+10T=)
c.991+10T= (n.991+10T=)
c.4350+10T=
c.5392+10T= (n.5392+10T=)
c.4846+10T= (n.4846+10T=)
c.4573+10T= (n.4573+10T=)
n.519+10T=
n.306+10T=
c.1079+10T=
c.5119+10T= (n.5119+10T=)
c.4300+10T= (n.4300+10T=)
c.3754+10T= (n.3754+10T=)
c.5668+10T= (n.5668+10T=)
c.5395+10T= (n.5395+10T=)
c.4849+10T= (n.4849+10T=)
c.4576+10T= (n.4576+10T=)
c.4027+10T= (n.4027+10T=)
c.5941+10T= (n.5941+10T=)
c.5665+10T= (n.5665+10T=)
9g.115040931A>CCA2691396678TNCc.584+10T>G
c.3481+10T>G (n.3481+10T>G)
c.4303+10T>G (n.4303+10T>G)
c.2335+10T>G (n.2335+10T>G)
c.991+10T>G (n.991+10T>G)
c.4350+10T>G
c.5392+10T>G (n.5392+10T>G)
c.4846+10T>G (n.4846+10T>G)
c.4573+10T>G (n.4573+10T>G)
n.519+10T>G
n.306+10T>G
c.1079+10T>G
c.5119+10T>G (n.5119+10T>G)
c.4300+10T>G (n.4300+10T>G)
c.3754+10T>G (n.3754+10T>G)
c.5668+10T>G (n.5668+10T>G)
c.5395+10T>G (n.5395+10T>G)
c.4849+10T>G (n.4849+10T>G)
c.4576+10T>G (n.4576+10T>G)
c.4027+10T>G (n.4027+10T>G)
c.5941+10T>G (n.5941+10T>G)
c.5665+10T>G (n.5665+10T>G)
 gnomAD v4
9g.115040931A>TCA1874116309TNCc.584+10T>A
c.3481+10T>A (n.3481+10T>A)
c.4303+10T>A (n.4303+10T>A)
c.2335+10T>A (n.2335+10T>A)
c.991+10T>A (n.991+10T>A)
c.4350+10T>A
c.5392+10T>A (n.5392+10T>A)
c.4846+10T>A (n.4846+10T>A)
c.4573+10T>A (n.4573+10T>A)
n.519+10T>A
n.306+10T>A
c.1079+10T>A
c.5119+10T>A (n.5119+10T>A)
c.4300+10T>A (n.4300+10T>A)
c.3754+10T>A (n.3754+10T>A)
c.5668+10T>A (n.5668+10T>A)
c.5395+10T>A (n.5395+10T>A)
c.4849+10T>A (n.4849+10T>A)
c.4576+10T>A (n.4576+10T>A)
c.4027+10T>A (n.4027+10T>A)
c.5941+10T>A (n.5941+10T>A)
c.5665+10T>A (n.5665+10T>A)
 dbSNP
9g.115040932C>ACA5207675TNCc.584+9G>T
c.3481+9G>T (n.3481+9G>T)
c.4303+9G>T (n.4303+9G>T)
c.2335+9G>T (n.2335+9G>T)
c.991+9G>T (n.991+9G>T)
c.4350+9G>T
c.5392+9G>T (n.5392+9G>T)
c.4846+9G>T (n.4846+9G>T)
c.4573+9G>T (n.4573+9G>T)
n.519+9G>T
n.306+9G>T
c.1079+9G>T
c.5119+9G>T (n.5119+9G>T)
c.4300+9G>T (n.4300+9G>T)
c.3754+9G>T (n.3754+9G>T)
c.5668+9G>T (n.5668+9G>T)
c.5395+9G>T (n.5395+9G>T)
c.4849+9G>T (n.4849+9G>T)
c.4576+9G>T (n.4576+9G>T)
c.4027+9G>T (n.4027+9G>T)
c.5941+9G>T (n.5941+9G>T)
c.5665+9G>T (n.5665+9G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115040932C=CA1874116311TNCc.584+9G=
c.3481+9G= (n.3481+9G=)
c.4303+9G= (n.4303+9G=)
c.2335+9G= (n.2335+9G=)
c.991+9G= (n.991+9G=)
c.4350+9G=
c.5392+9G= (n.5392+9G=)
c.4846+9G= (n.4846+9G=)
c.4573+9G= (n.4573+9G=)
n.519+9G=
n.306+9G=
c.1079+9G=
c.5119+9G= (n.5119+9G=)
c.4300+9G= (n.4300+9G=)
c.3754+9G= (n.3754+9G=)
c.5668+9G= (n.5668+9G=)
c.5395+9G= (n.5395+9G=)
c.4849+9G= (n.4849+9G=)
c.4576+9G= (n.4576+9G=)
c.4027+9G= (n.4027+9G=)
c.5941+9G= (n.5941+9G=)
c.5665+9G= (n.5665+9G=)
9g.115040932C>TCA590156315TNCc.584+9G>A
c.3481+9G>A (n.3481+9G>A)
c.4303+9G>A (n.4303+9G>A)
c.2335+9G>A (n.2335+9G>A)
c.991+9G>A (n.991+9G>A)
c.4350+9G>A
c.5392+9G>A (n.5392+9G>A)
c.4846+9G>A (n.4846+9G>A)
c.4573+9G>A (n.4573+9G>A)
n.519+9G>A
n.306+9G>A
c.1079+9G>A
c.5119+9G>A (n.5119+9G>A)
c.4300+9G>A (n.4300+9G>A)
c.3754+9G>A (n.3754+9G>A)
c.5668+9G>A (n.5668+9G>A)
c.5395+9G>A (n.5395+9G>A)
c.4849+9G>A (n.4849+9G>A)
c.4576+9G>A (n.4576+9G>A)
c.4027+9G>A (n.4027+9G>A)
c.5941+9G>A (n.5941+9G>A)
c.5665+9G>A (n.5665+9G>A)
 dbSNP gnomAD v2 gnomAD v4
9g.115040932_115040934delinsCCACA1874116310TNCc.584+7_584+9delinsTGG
c.3481+7_3481+9delinsTGG (n.3481+7_3481+9delinsTGG)
c.4303+7_4303+9delinsTGG (n.4303+7_4303+9delinsTGG)
c.2335+7_2335+9delinsTGG (n.2335+7_2335+9delinsTGG)
c.991+7_991+9delinsTGG (n.991+7_991+9delinsTGG)
c.4350+7_4350+9delinsTGG
c.5392+7_5392+9delinsTGG (n.5392+7_5392+9delinsTGG)
c.4846+7_4846+9delinsTGG (n.4846+7_4846+9delinsTGG)
c.4573+7_4573+9delinsTGG (n.4573+7_4573+9delinsTGG)
n.519+7_519+9delinsTGG
n.306+7_306+9delinsTGG
c.1079+7_1079+9delinsTGG
c.5119+7_5119+9delinsTGG (n.5119+7_5119+9delinsTGG)
c.4300+7_4300+9delinsTGG (n.4300+7_4300+9delinsTGG)
c.3754+7_3754+9delinsTGG (n.3754+7_3754+9delinsTGG)
c.5668+7_5668+9delinsTGG (n.5668+7_5668+9delinsTGG)
c.5395+7_5395+9delinsTGG (n.5395+7_5395+9delinsTGG)
c.4849+7_4849+9delinsTGG (n.4849+7_4849+9delinsTGG)
c.4576+7_4576+9delinsTGG (n.4576+7_4576+9delinsTGG)
c.4027+7_4027+9delinsTGG (n.4027+7_4027+9delinsTGG)
c.5941+7_5941+9delinsTGG (n.5941+7_5941+9delinsTGG)
c.5665+7_5665+9delinsTGG (n.5665+7_5665+9delinsTGG)
9g.115040933C>ACA590156317TNCc.584+8G>T
c.3481+8G>T (n.3481+8G>T)
c.4303+8G>T (n.4303+8G>T)
c.2335+8G>T (n.2335+8G>T)
c.991+8G>T (n.991+8G>T)
c.4350+8G>T
c.5392+8G>T (n.5392+8G>T)
c.4846+8G>T (n.4846+8G>T)
c.4573+8G>T (n.4573+8G>T)
n.519+8G>T
n.306+8G>T
c.1079+8G>T
c.5119+8G>T (n.5119+8G>T)
c.4300+8G>T (n.4300+8G>T)
c.3754+8G>T (n.3754+8G>T)
c.5668+8G>T (n.5668+8G>T)
c.5395+8G>T (n.5395+8G>T)
c.4849+8G>T (n.4849+8G>T)
c.4576+8G>T (n.4576+8G>T)
c.4027+8G>T (n.4027+8G>T)
c.5941+8G>T (n.5941+8G>T)
c.5665+8G>T (n.5665+8G>T)
 dbSNP gnomAD v2 gnomAD v4
9g.115040933C=CA1874116312TNCc.584+8G=
c.3481+8G= (n.3481+8G=)
c.4303+8G= (n.4303+8G=)
c.2335+8G= (n.2335+8G=)
c.991+8G= (n.991+8G=)
c.4350+8G=
c.5392+8G= (n.5392+8G=)
c.4846+8G= (n.4846+8G=)
c.4573+8G= (n.4573+8G=)
n.519+8G=
n.306+8G=
c.1079+8G=
c.5119+8G= (n.5119+8G=)
c.4300+8G= (n.4300+8G=)
c.3754+8G= (n.3754+8G=)
c.5668+8G= (n.5668+8G=)
c.5395+8G= (n.5395+8G=)
c.4849+8G= (n.4849+8G=)
c.4576+8G= (n.4576+8G=)
c.4027+8G= (n.4027+8G=)
c.5941+8G= (n.5941+8G=)
c.5665+8G= (n.5665+8G=)
9g.115040933C>TCA2691396684TNCc.584+8G>A
c.3481+8G>A (n.3481+8G>A)
c.4303+8G>A (n.4303+8G>A)
c.2335+8G>A (n.2335+8G>A)
c.991+8G>A (n.991+8G>A)
c.4350+8G>A
c.5392+8G>A (n.5392+8G>A)
c.4846+8G>A (n.4846+8G>A)
c.4573+8G>A (n.4573+8G>A)
n.519+8G>A
n.306+8G>A
c.1079+8G>A
c.5119+8G>A (n.5119+8G>A)
c.4300+8G>A (n.4300+8G>A)
c.3754+8G>A (n.3754+8G>A)
c.5668+8G>A (n.5668+8G>A)
c.5395+8G>A (n.5395+8G>A)
c.4849+8G>A (n.4849+8G>A)
c.4576+8G>A (n.4576+8G>A)
c.4027+8G>A (n.4027+8G>A)
c.5941+8G>A (n.5941+8G>A)
c.5665+8G>A (n.5665+8G>A)
 gnomAD v4
9g.115040933_115040934delCA5207674TNCc.584+7_584+8del
c.3481+7_3481+8del (n.3481+7_3481+8del)
c.4303+7_4303+8del (n.4303+7_4303+8del)
c.2335+7_2335+8del (n.2335+7_2335+8del)
c.991+7_991+8del (n.991+7_991+8del)
c.4350+7_4350+8del
c.5392+7_5392+8del (n.5392+7_5392+8del)
c.4846+7_4846+8del (n.4846+7_4846+8del)
c.4573+7_4573+8del (n.4573+7_4573+8del)
n.519+7_519+8del
n.306+7_306+8del
c.1079+7_1079+8del
c.5119+7_5119+8del (n.5119+7_5119+8del)
c.4300+7_4300+8del (n.4300+7_4300+8del)
c.3754+7_3754+8del (n.3754+7_3754+8del)
c.5668+7_5668+8del (n.5668+7_5668+8del)
c.5395+7_5395+8del (n.5395+7_5395+8del)
c.4849+7_4849+8del (n.4849+7_4849+8del)
c.4576+7_4576+8del (n.4576+7_4576+8del)
c.4027+7_4027+8del (n.4027+7_4027+8del)
c.5941+7_5941+8del (n.5941+7_5941+8del)
c.5665+7_5665+8del (n.5665+7_5665+8del)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115040935A>CCA2691396686TNCc.584+6T>G
c.3481+6T>G (n.3481+6T>G)
c.4303+6T>G (n.4303+6T>G)
c.2335+6T>G (n.2335+6T>G)
c.991+6T>G (n.991+6T>G)
c.4350+6T>G
c.5392+6T>G (n.5392+6T>G)
c.4846+6T>G (n.4846+6T>G)
c.4573+6T>G (n.4573+6T>G)
n.519+6T>G
n.306+6T>G
c.1079+6T>G
c.5119+6T>G (n.5119+6T>G)
c.4300+6T>G (n.4300+6T>G)
c.3754+6T>G (n.3754+6T>G)
c.5668+6T>G (n.5668+6T>G)
c.5395+6T>G (n.5395+6T>G)
c.4849+6T>G (n.4849+6T>G)
c.4576+6T>G (n.4576+6T>G)
c.4027+6T>G (n.4027+6T>G)
c.5941+6T>G (n.5941+6T>G)
c.5665+6T>G (n.5665+6T>G)
 gnomAD v4
9g.115040935A>GCA2691396687TNCc.584+6T>C
c.3481+6T>C (n.3481+6T>C)
c.4303+6T>C (n.4303+6T>C)
c.2335+6T>C (n.2335+6T>C)
c.991+6T>C (n.991+6T>C)
c.4350+6T>C
c.5392+6T>C (n.5392+6T>C)
c.4846+6T>C (n.4846+6T>C)
c.4573+6T>C (n.4573+6T>C)
n.519+6T>C
n.306+6T>C
c.1079+6T>C
c.5119+6T>C (n.5119+6T>C)
c.4300+6T>C (n.4300+6T>C)
c.3754+6T>C (n.3754+6T>C)
c.5668+6T>C (n.5668+6T>C)
c.5395+6T>C (n.5395+6T>C)
c.4849+6T>C (n.4849+6T>C)
c.4576+6T>C (n.4576+6T>C)
c.4027+6T>C (n.4027+6T>C)
c.5941+6T>C (n.5941+6T>C)
c.5665+6T>C (n.5665+6T>C)
 gnomAD v4
9g.115040936C>TCA2691396689TNCc.584+5G>A
c.3481+5G>A (n.3481+5G>A)
c.4303+5G>A (n.4303+5G>A)
c.2335+5G>A (n.2335+5G>A)
c.991+5G>A (n.991+5G>A)
c.4350+5G>A
c.5392+5G>A (n.5392+5G>A)
c.4846+5G>A (n.4846+5G>A)
c.4573+5G>A (n.4573+5G>A)
n.519+5G>A
n.306+5G>A
c.1079+5G>A
c.5119+5G>A (n.5119+5G>A)
c.4300+5G>A (n.4300+5G>A)
c.3754+5G>A (n.3754+5G>A)
c.5668+5G>A (n.5668+5G>A)
c.5395+5G>A (n.5395+5G>A)
c.4849+5G>A (n.4849+5G>A)
c.4576+5G>A (n.4576+5G>A)
c.4027+5G>A (n.4027+5G>A)
c.5941+5G>A (n.5941+5G>A)
c.5665+5G>A (n.5665+5G>A)
 gnomAD v4
9g.115040937T>ACA5207676TNCc.584+4A>T
c.3481+4A>T (n.3481+4A>T)
c.4303+4A>T (n.4303+4A>T)
c.2335+4A>T (n.2335+4A>T)
c.991+4A>T (n.991+4A>T)
c.4350+4A>T
c.5392+4A>T (n.5392+4A>T)
c.4846+4A>T (n.4846+4A>T)
c.4573+4A>T (n.4573+4A>T)
n.519+4A>T
n.306+4A>T
c.1079+4A>T
c.5119+4A>T (n.5119+4A>T)
c.4300+4A>T (n.4300+4A>T)
c.3754+4A>T (n.3754+4A>T)
c.5668+4A>T (n.5668+4A>T)
c.5395+4A>T (n.5395+4A>T)
c.4849+4A>T (n.4849+4A>T)
c.4576+4A>T (n.4576+4A>T)
c.4027+4A>T (n.4027+4A>T)
c.5941+4A>T (n.5941+4A>T)
c.5665+4A>T (n.5665+4A>T)
 dbSNP ExAC gnomAD v4
9g.115040937T>GCA858973616TNCc.584+4A>C
c.3481+4A>C (n.3481+4A>C)
c.4303+4A>C (n.4303+4A>C)
c.2335+4A>C (n.2335+4A>C)
c.991+4A>C (n.991+4A>C)
c.4350+4A>C
c.5392+4A>C (n.5392+4A>C)
c.4846+4A>C (n.4846+4A>C)
c.4573+4A>C (n.4573+4A>C)
n.519+4A>C
n.306+4A>C
c.1079+4A>C
c.5119+4A>C (n.5119+4A>C)
c.4300+4A>C (n.4300+4A>C)
c.3754+4A>C (n.3754+4A>C)
c.5668+4A>C (n.5668+4A>C)
c.5395+4A>C (n.5395+4A>C)
c.4849+4A>C (n.4849+4A>C)
c.4576+4A>C (n.4576+4A>C)
c.4027+4A>C (n.4027+4A>C)
c.5941+4A>C (n.5941+4A>C)
c.5665+4A>C (n.5665+4A>C)
 dbSNP gnomAD v4
9g.115040937T=CA1874116313TNCc.584+4A=
c.3481+4A= (n.3481+4A=)
c.4303+4A= (n.4303+4A=)
c.2335+4A= (n.2335+4A=)
c.991+4A= (n.991+4A=)
c.4350+4A=
c.5392+4A= (n.5392+4A=)
c.4846+4A= (n.4846+4A=)
c.4573+4A= (n.4573+4A=)
n.519+4A=
n.306+4A=
c.1079+4A=
c.5119+4A= (n.5119+4A=)
c.4300+4A= (n.4300+4A=)
c.3754+4A= (n.3754+4A=)
c.5668+4A= (n.5668+4A=)
c.5395+4A= (n.5395+4A=)
c.4849+4A= (n.4849+4A=)
c.4576+4A= (n.4576+4A=)
c.4027+4A= (n.4027+4A=)
c.5941+4A= (n.5941+4A=)
c.5665+4A= (n.5665+4A=)
9g.115040938C>ACA2691396692TNCc.584+3G>T
c.3481+3G>T (n.3481+3G>T)
c.4303+3G>T (n.4303+3G>T)
c.2335+3G>T (n.2335+3G>T)
c.991+3G>T (n.991+3G>T)
c.4350+3G>T
c.5392+3G>T (n.5392+3G>T)
c.4846+3G>T (n.4846+3G>T)
c.4573+3G>T (n.4573+3G>T)
n.519+3G>T
n.306+3G>T
c.1079+3G>T
c.5119+3G>T (n.5119+3G>T)
c.4300+3G>T (n.4300+3G>T)
c.3754+3G>T (n.3754+3G>T)
c.5668+3G>T (n.5668+3G>T)
c.5395+3G>T (n.5395+3G>T)
c.4849+3G>T (n.4849+3G>T)
c.4576+3G>T (n.4576+3G>T)
c.4027+3G>T (n.4027+3G>T)
c.5941+3G>T (n.5941+3G>T)
c.5665+3G>T (n.5665+3G>T)
 gnomAD v4
9g.115040939A>CCA374628980TNCc.584+2T>G
c.3481+2T>G (n.3481+2T>G)
c.4303+2T>G (n.4303+2T>G)
c.2335+2T>G (n.2335+2T>G)
c.991+2T>G (n.991+2T>G)
c.4350+2T>G
c.5392+2T>G (n.5392+2T>G)
c.4846+2T>G (n.4846+2T>G)
c.4573+2T>G (n.4573+2T>G)
n.519+2T>G
n.306+2T>G
c.1079+2T>G
c.5119+2T>G (n.5119+2T>G)
c.4300+2T>G (n.4300+2T>G)
c.3754+2T>G (n.3754+2T>G)
c.5668+2T>G (n.5668+2T>G)
c.5395+2T>G (n.5395+2T>G)
c.4849+2T>G (n.4849+2T>G)
c.4576+2T>G (n.4576+2T>G)
c.4027+2T>G (n.4027+2T>G)
c.5941+2T>G (n.5941+2T>G)
c.5665+2T>G (n.5665+2T>G)
9g.115040939A>GCA374628984TNCc.584+2T>C
c.3481+2T>C (n.3481+2T>C)
c.4303+2T>C (n.4303+2T>C)
c.2335+2T>C (n.2335+2T>C)
c.991+2T>C (n.991+2T>C)
c.4350+2T>C
c.5392+2T>C (n.5392+2T>C)
c.4846+2T>C (n.4846+2T>C)
c.4573+2T>C (n.4573+2T>C)
n.519+2T>C
n.306+2T>C
c.1079+2T>C
c.5119+2T>C (n.5119+2T>C)
c.4300+2T>C (n.4300+2T>C)
c.3754+2T>C (n.3754+2T>C)
c.5668+2T>C (n.5668+2T>C)
c.5395+2T>C (n.5395+2T>C)
c.4849+2T>C (n.4849+2T>C)
c.4576+2T>C (n.4576+2T>C)
c.4027+2T>C (n.4027+2T>C)
c.5941+2T>C (n.5941+2T>C)
c.5665+2T>C (n.5665+2T>C)
9g.115040939A>TCA374628982TNCc.584+2T>A
c.3481+2T>A (n.3481+2T>A)
c.4303+2T>A (n.4303+2T>A)
c.2335+2T>A (n.2335+2T>A)
c.991+2T>A (n.991+2T>A)
c.4350+2T>A
c.5392+2T>A (n.5392+2T>A)
c.4846+2T>A (n.4846+2T>A)
c.4573+2T>A (n.4573+2T>A)
n.519+2T>A
n.306+2T>A
c.1079+2T>A
c.5119+2T>A (n.5119+2T>A)
c.4300+2T>A (n.4300+2T>A)
c.3754+2T>A (n.3754+2T>A)
c.5668+2T>A (n.5668+2T>A)
c.5395+2T>A (n.5395+2T>A)
c.4849+2T>A (n.4849+2T>A)
c.4576+2T>A (n.4576+2T>A)
c.4027+2T>A (n.4027+2T>A)
c.5941+2T>A (n.5941+2T>A)
c.5665+2T>A (n.5665+2T>A)
9g.115040940C>ACA374628987TNCc.584+1G>T
c.3481+1G>T (n.3481+1G>T)
c.4303+1G>T (n.4303+1G>T)
c.2335+1G>T (n.2335+1G>T)
c.991+1G>T (n.991+1G>T)
c.4350+1G>T
c.5392+1G>T (n.5392+1G>T)
c.4846+1G>T (n.4846+1G>T)
c.4573+1G>T (n.4573+1G>T)
n.519+1G>T
n.306+1G>T
c.1079+1G>T
c.5119+1G>T (n.5119+1G>T)
c.4300+1G>T (n.4300+1G>T)
c.3754+1G>T (n.3754+1G>T)
c.5668+1G>T (n.5668+1G>T)
c.5395+1G>T (n.5395+1G>T)
c.4849+1G>T (n.4849+1G>T)
c.4576+1G>T (n.4576+1G>T)
c.4027+1G>T (n.4027+1G>T)
c.5941+1G>T (n.5941+1G>T)
c.5665+1G>T (n.5665+1G>T)
 gnomAD v4
9g.115040940C>GCA374628989TNCc.584+1G>C
c.3481+1G>C (n.3481+1G>C)
c.4303+1G>C (n.4303+1G>C)
c.2335+1G>C (n.2335+1G>C)
c.991+1G>C (n.991+1G>C)
c.4350+1G>C
c.5392+1G>C (n.5392+1G>C)
c.4846+1G>C (n.4846+1G>C)
c.4573+1G>C (n.4573+1G>C)
n.519+1G>C
n.306+1G>C
c.1079+1G>C
c.5119+1G>C (n.5119+1G>C)
c.4300+1G>C (n.4300+1G>C)
c.3754+1G>C (n.3754+1G>C)
c.5668+1G>C (n.5668+1G>C)
c.5395+1G>C (n.5395+1G>C)
c.4849+1G>C (n.4849+1G>C)
c.4576+1G>C (n.4576+1G>C)
c.4027+1G>C (n.4027+1G>C)
c.5941+1G>C (n.5941+1G>C)
c.5665+1G>C (n.5665+1G>C)
9g.115040940C>TCA374628990TNCc.584+1G>A
c.3481+1G>A (n.3481+1G>A)
c.4303+1G>A (n.4303+1G>A)
c.2335+1G>A (n.2335+1G>A)
c.991+1G>A (n.991+1G>A)
c.4350+1G>A
c.5392+1G>A (n.5392+1G>A)
c.4846+1G>A (n.4846+1G>A)
c.4573+1G>A (n.4573+1G>A)
n.519+1G>A
n.306+1G>A
c.1079+1G>A
c.5119+1G>A (n.5119+1G>A)
c.4300+1G>A (n.4300+1G>A)
c.3754+1G>A (n.3754+1G>A)
c.5668+1G>A (n.5668+1G>A)
c.5395+1G>A (n.5395+1G>A)
c.4849+1G>A (n.4849+1G>A)
c.4576+1G>A (n.4576+1G>A)
c.4027+1G>A (n.4027+1G>A)
c.5941+1G>A (n.5941+1G>A)
c.5665+1G>A (n.5665+1G>A)
9g.115040941C>ACA374628992TNCc.584G>T
c.3481G>T (p.Ala1161Ser)
c.4303G>T (p.Ala1435Ser)
c.2335G>T (p.Ala779Ser)
c.991G>T (p.Ala331Ser)
c.4350G>T
c.5392G>T (p.Ala1798Ser)
c.4846G>T (p.Ala1616Ser)
c.4573G>T (p.Ala1525Ser)
n.519G>T
n.306G>T
c.1079G>T
c.5119G>T (p.Ala1707Ser)
c.4300G>T (p.Ala1434Ser)
c.3754G>T (p.Ala1252Ser)
c.5668G>T (p.Ala1890Ser)
c.5395G>T (p.Ala1799Ser)
c.4849G>T (p.Ala1617Ser)
c.4576G>T (p.Ala1526Ser)
c.4027G>T (p.Ala1343Ser)
c.5941G>T (p.Ala1981Ser)
c.5665G>T (p.Ala1889Ser)
9g.115040941C>GCA374628994TNCc.584G>C
c.3481G>C (p.Ala1161Pro)
c.4303G>C (p.Ala1435Pro)
c.2335G>C (p.Ala779Pro)
c.991G>C (p.Ala331Pro)
c.4350G>C
c.5392G>C (p.Ala1798Pro)
c.4846G>C (p.Ala1616Pro)
c.4573G>C (p.Ala1525Pro)
n.519G>C
n.306G>C
c.1079G>C
c.5119G>C (p.Ala1707Pro)
c.4300G>C (p.Ala1434Pro)
c.3754G>C (p.Ala1252Pro)
c.5668G>C (p.Ala1890Pro)
c.5395G>C (p.Ala1799Pro)
c.4849G>C (p.Ala1617Pro)
c.4576G>C (p.Ala1526Pro)
c.4027G>C (p.Ala1343Pro)
c.5941G>C (p.Ala1981Pro)
c.5665G>C (p.Ala1889Pro)
9g.115040941C>TCA374628996TNCc.584G>A
c.3481G>A (p.Ala1161Thr)
c.4303G>A (p.Ala1435Thr)
c.2335G>A (p.Ala779Thr)
c.991G>A (p.Ala331Thr)
c.4350G>A
c.5392G>A (p.Ala1798Thr)
c.4846G>A (p.Ala1616Thr)
c.4573G>A (p.Ala1525Thr)
n.519G>A
n.306G>A
c.1079G>A
c.5119G>A (p.Ala1707Thr)
c.4300G>A (p.Ala1434Thr)
c.3754G>A (p.Ala1252Thr)
c.5668G>A (p.Ala1890Thr)
c.5395G>A (p.Ala1799Thr)
c.4849G>A (p.Ala1617Thr)
c.4576G>A (p.Ala1526Thr)
c.4027G>A (p.Ala1343Thr)
c.5941G>A (p.Ala1981Thr)
c.5665G>A (p.Ala1889Thr)
 gnomAD v4
9g.115040942T>ACA466790943TNCc.583A>T
c.3480A>T (p.Thr1160=)
c.4302A>T (p.Thr1434=)
c.2334A>T (p.Thr778=)
c.990A>T (p.Thr330=)
c.4349A>T
c.5391A>T (p.Thr1797=)
c.4845A>T (p.Thr1615=)
c.4572A>T (p.Thr1524=)
n.518A>T
n.305A>T
c.1078A>T
c.5118A>T (p.Thr1706=)
c.4299A>T (p.Thr1433=)
c.3753A>T (p.Thr1251=)
c.5667A>T (p.Thr1889=)
c.5394A>T (p.Thr1798=)
c.4848A>T (p.Thr1616=)
c.4575A>T (p.Thr1525=)
c.4026A>T (p.Thr1342=)
c.5940A>T (p.Thr1980=)
c.5664A>T (p.Thr1888=)
9g.115040942T>CCA466790944TNCc.583A>G
c.3480A>G (p.Thr1160=)
c.4302A>G (p.Thr1434=)
c.2334A>G (p.Thr778=)
c.990A>G (p.Thr330=)
c.4349A>G
c.5391A>G (p.Thr1797=)
c.4845A>G (p.Thr1615=)
c.4572A>G (p.Thr1524=)
n.518A>G
n.305A>G
c.1078A>G
c.5118A>G (p.Thr1706=)
c.4299A>G (p.Thr1433=)
c.3753A>G (p.Thr1251=)
c.5667A>G (p.Thr1889=)
c.5394A>G (p.Thr1798=)
c.4848A>G (p.Thr1616=)
c.4575A>G (p.Thr1525=)
c.4026A>G (p.Thr1342=)
c.5940A>G (p.Thr1980=)
c.5664A>G (p.Thr1888=)
9g.115040942T>GCA466790945TNCc.583A>C
c.3480A>C (p.Thr1160=)
c.4302A>C (p.Thr1434=)
c.2334A>C (p.Thr778=)
c.990A>C (p.Thr330=)
c.4349A>C
c.5391A>C (p.Thr1797=)
c.4845A>C (p.Thr1615=)
c.4572A>C (p.Thr1524=)
n.518A>C
n.305A>C
c.1078A>C
c.5118A>C (p.Thr1706=)
c.4299A>C (p.Thr1433=)
c.3753A>C (p.Thr1251=)
c.5667A>C (p.Thr1889=)
c.5394A>C (p.Thr1798=)
c.4848A>C (p.Thr1616=)
c.4575A>C (p.Thr1525=)
c.4026A>C (p.Thr1342=)
c.5940A>C (p.Thr1980=)
c.5664A>C (p.Thr1888=)
 dbSNP
9g.115040943G>ACA374629001TNCc.582C>T
c.3479C>T (p.Thr1160Ile)
c.4301C>T (p.Thr1434Ile)
c.2333C>T (p.Thr778Ile)
c.989C>T (p.Thr330Ile)
c.4348C>T
c.5390C>T (p.Thr1797Ile)
c.4844C>T (p.Thr1615Ile)
c.4571C>T (p.Thr1524Ile)
n.517C>T
n.304C>T
c.1077C>T
c.5117C>T (p.Thr1706Ile)
c.4298C>T (p.Thr1433Ile)
c.3752C>T (p.Thr1251Ile)
c.5666C>T (p.Thr1889Ile)
c.5393C>T (p.Thr1798Ile)
c.4847C>T (p.Thr1616Ile)
c.4574C>T (p.Thr1525Ile)
c.4025C>T (p.Thr1342Ile)
c.5939C>T (p.Thr1980Ile)
c.5663C>T (p.Thr1888Ile)
9g.115040943G>CCA374629000TNCc.582C>G
c.3479C>G (p.Thr1160Arg)
c.4301C>G (p.Thr1434Arg)
c.2333C>G (p.Thr778Arg)
c.989C>G (p.Thr330Arg)
c.4348C>G
c.5390C>G (p.Thr1797Arg)
c.4844C>G (p.Thr1615Arg)
c.4571C>G (p.Thr1524Arg)
n.517C>G
n.304C>G
c.1077C>G
c.5117C>G (p.Thr1706Arg)
c.4298C>G (p.Thr1433Arg)
c.3752C>G (p.Thr1251Arg)
c.5666C>G (p.Thr1889Arg)
c.5393C>G (p.Thr1798Arg)
c.4847C>G (p.Thr1616Arg)
c.4574C>G (p.Thr1525Arg)
c.4025C>G (p.Thr1342Arg)
c.5939C>G (p.Thr1980Arg)
c.5663C>G (p.Thr1888Arg)
9g.115040943G>TCA374628999TNCc.582C>A
c.3479C>A (p.Thr1160Lys)
c.4301C>A (p.Thr1434Lys)
c.2333C>A (p.Thr778Lys)
c.989C>A (p.Thr330Lys)
c.4348C>A
c.5390C>A (p.Thr1797Lys)
c.4844C>A (p.Thr1615Lys)
c.4571C>A (p.Thr1524Lys)
n.517C>A
n.304C>A
c.1077C>A
c.5117C>A (p.Thr1706Lys)
c.4298C>A (p.Thr1433Lys)
c.3752C>A (p.Thr1251Lys)
c.5666C>A (p.Thr1889Lys)
c.5393C>A (p.Thr1798Lys)
c.4847C>A (p.Thr1616Lys)
c.4574C>A (p.Thr1525Lys)
c.4025C>A (p.Thr1342Lys)
c.5939C>A (p.Thr1980Lys)
c.5663C>A (p.Thr1888Lys)
9g.115040944T>ACA374629004TNCc.581A>T
c.3478A>T (p.Thr1160Ser)
c.4300A>T (p.Thr1434Ser)
c.2332A>T (p.Thr778Ser)
c.988A>T (p.Thr330Ser)
c.4347A>T
c.5389A>T (p.Thr1797Ser)
c.4843A>T (p.Thr1615Ser)
c.4570A>T (p.Thr1524Ser)
n.516A>T
n.303A>T
c.1076A>T
c.5116A>T (p.Thr1706Ser)
c.4297A>T (p.Thr1433Ser)
c.3751A>T (p.Thr1251Ser)
c.5665A>T (p.Thr1889Ser)
c.5392A>T (p.Thr1798Ser)
c.4846A>T (p.Thr1616Ser)
c.4573A>T (p.Thr1525Ser)
c.4024A>T (p.Thr1342Ser)
c.5938A>T (p.Thr1980Ser)
c.5662A>T (p.Thr1888Ser)
9g.115040944T>CCA374629006TNCc.581A>G
c.3478A>G (p.Thr1160Ala)
c.4300A>G (p.Thr1434Ala)
c.2332A>G (p.Thr778Ala)
c.988A>G (p.Thr330Ala)
c.4347A>G
c.5389A>G (p.Thr1797Ala)
c.4843A>G (p.Thr1615Ala)
c.4570A>G (p.Thr1524Ala)
n.516A>G
n.303A>G
c.1076A>G
c.5116A>G (p.Thr1706Ala)
c.4297A>G (p.Thr1433Ala)
c.3751A>G (p.Thr1251Ala)
c.5665A>G (p.Thr1889Ala)
c.5392A>G (p.Thr1798Ala)
c.4846A>G (p.Thr1616Ala)
c.4573A>G (p.Thr1525Ala)
c.4024A>G (p.Thr1342Ala)
c.5938A>G (p.Thr1980Ala)
c.5662A>G (p.Thr1888Ala)
9g.115040944T>GCA374629007TNCc.581A>C
c.3478A>C (p.Thr1160Pro)
c.4300A>C (p.Thr1434Pro)
c.2332A>C (p.Thr778Pro)
c.988A>C (p.Thr330Pro)
c.4347A>C
c.5389A>C (p.Thr1797Pro)
c.4843A>C (p.Thr1615Pro)
c.4570A>C (p.Thr1524Pro)
n.516A>C
n.303A>C
c.1076A>C
c.5116A>C (p.Thr1706Pro)
c.4297A>C (p.Thr1433Pro)
c.3751A>C (p.Thr1251Pro)
c.5665A>C (p.Thr1889Pro)
c.5392A>C (p.Thr1798Pro)
c.4846A>C (p.Thr1616Pro)
c.4573A>C (p.Thr1525Pro)
c.4024A>C (p.Thr1342Pro)
c.5938A>C (p.Thr1980Pro)
c.5662A>C (p.Thr1888Pro)
9g.115040945G>ACA466790948TNCc.580C>T
c.3477C>T (p.Thr1159=)
c.4299C>T (p.Thr1433=)
c.2331C>T (p.Thr777=)
c.987C>T (p.Thr329=)
c.4346C>T
c.5388C>T (p.Thr1796=)
c.4842C>T (p.Thr1614=)
c.4569C>T (p.Thr1523=)
n.515C>T
n.302C>T
c.1075C>T
c.5115C>T (p.Thr1705=)
c.4296C>T (p.Thr1432=)
c.3750C>T (p.Thr1250=)
c.5664C>T (p.Thr1888=)
c.5391C>T (p.Thr1797=)
c.4845C>T (p.Thr1615=)
c.4572C>T (p.Thr1524=)
c.4023C>T (p.Thr1341=)
c.5937C>T (p.Thr1979=)
c.5661C>T (p.Thr1887=)
9g.115040945G>CCA466790946TNCc.580C>G
c.3477C>G (p.Thr1159=)
c.4299C>G (p.Thr1433=)
c.2331C>G (p.Thr777=)
c.987C>G (p.Thr329=)
c.4346C>G
c.5388C>G (p.Thr1796=)
c.4842C>G (p.Thr1614=)
c.4569C>G (p.Thr1523=)
n.515C>G
n.302C>G
c.1075C>G
c.5115C>G (p.Thr1705=)
c.4296C>G (p.Thr1432=)
c.3750C>G (p.Thr1250=)
c.5664C>G (p.Thr1888=)
c.5391C>G (p.Thr1797=)
c.4845C>G (p.Thr1615=)
c.4572C>G (p.Thr1524=)
c.4023C>G (p.Thr1341=)
c.5937C>G (p.Thr1979=)
c.5661C>G (p.Thr1887=)
9g.115040945G>TCA466790947TNCc.580C>A
c.3477C>A (p.Thr1159=)
c.4299C>A (p.Thr1433=)
c.2331C>A (p.Thr777=)
c.987C>A (p.Thr329=)
c.4346C>A
c.5388C>A (p.Thr1796=)
c.4842C>A (p.Thr1614=)
c.4569C>A (p.Thr1523=)
n.515C>A
n.302C>A
c.1075C>A
c.5115C>A (p.Thr1705=)
c.4296C>A (p.Thr1432=)
c.3750C>A (p.Thr1250=)
c.5664C>A (p.Thr1888=)
c.5391C>A (p.Thr1797=)
c.4845C>A (p.Thr1615=)
c.4572C>A (p.Thr1524=)
c.4023C>A (p.Thr1341=)
c.5937C>A (p.Thr1979=)
c.5661C>A (p.Thr1887=)
9g.115040946G>ACA374629010TNCc.579C>T
c.3476C>T (p.Thr1159Ile)
c.4298C>T (p.Thr1433Ile)
c.2330C>T (p.Thr777Ile)
c.986C>T (p.Thr329Ile)
c.4345C>T
c.5387C>T (p.Thr1796Ile)
c.4841C>T (p.Thr1614Ile)
c.4568C>T (p.Thr1523Ile)
n.514C>T
n.301C>T
c.1074C>T
c.5114C>T (p.Thr1705Ile)
c.4295C>T (p.Thr1432Ile)
c.3749C>T (p.Thr1250Ile)
c.5663C>T (p.Thr1888Ile)
c.5390C>T (p.Thr1797Ile)
c.4844C>T (p.Thr1615Ile)
c.4571C>T (p.Thr1524Ile)
c.4022C>T (p.Thr1341Ile)
c.5936C>T (p.Thr1979Ile)
c.5660C>T (p.Thr1887Ile)
 dbSNP gnomAD v3 gnomAD v4
9g.115040946G>CCA374629011TNCc.579C>G
c.3476C>G (p.Thr1159Ser)
c.4298C>G (p.Thr1433Ser)
c.2330C>G (p.Thr777Ser)
c.986C>G (p.Thr329Ser)
c.4345C>G
c.5387C>G (p.Thr1796Ser)
c.4841C>G (p.Thr1614Ser)
c.4568C>G (p.Thr1523Ser)
n.514C>G
n.301C>G
c.1074C>G
c.5114C>G (p.Thr1705Ser)
c.4295C>G (p.Thr1432Ser)
c.3749C>G (p.Thr1250Ser)
c.5663C>G (p.Thr1888Ser)
c.5390C>G (p.Thr1797Ser)
c.4844C>G (p.Thr1615Ser)
c.4571C>G (p.Thr1524Ser)
c.4022C>G (p.Thr1341Ser)
c.5936C>G (p.Thr1979Ser)
c.5660C>G (p.Thr1887Ser)
9g.115040946G=CA1874116314TNCc.579C=
c.3476C= (p.Thr1159=)
c.4298C= (p.Thr1433=)
c.2330C= (p.Thr777=)
c.986C= (p.Thr329=)
c.4345C=
c.5387C= (p.Thr1796=)
c.4841C= (p.Thr1614=)
c.4568C= (p.Thr1523=)
n.514C=
n.301C=
c.1074C=
c.5114C= (p.Thr1705=)
c.4295C= (p.Thr1432=)
c.3749C= (p.Thr1250=)
c.5663C= (p.Thr1888=)
c.5390C= (p.Thr1797=)
c.4844C= (p.Thr1615=)
c.4571C= (p.Thr1524=)
c.4022C= (p.Thr1341=)
c.5936C= (p.Thr1979=)
c.5660C= (p.Thr1887=)
9g.115040946G>TCA374629012TNCc.579C>A
c.3476C>A (p.Thr1159Asn)
c.4298C>A (p.Thr1433Asn)
c.2330C>A (p.Thr777Asn)
c.986C>A (p.Thr329Asn)
c.4345C>A
c.5387C>A (p.Thr1796Asn)
c.4841C>A (p.Thr1614Asn)
c.4568C>A (p.Thr1523Asn)
n.514C>A
n.301C>A
c.1074C>A
c.5114C>A (p.Thr1705Asn)
c.4295C>A (p.Thr1432Asn)
c.3749C>A (p.Thr1250Asn)
c.5663C>A (p.Thr1888Asn)
c.5390C>A (p.Thr1797Asn)
c.4844C>A (p.Thr1615Asn)
c.4571C>A (p.Thr1524Asn)
c.4022C>A (p.Thr1341Asn)
c.5936C>A (p.Thr1979Asn)
c.5660C>A (p.Thr1887Asn)
9g.115040947T>ACA149712TNCc.578A>T
c.3475A>T (p.Thr1159Ser)
c.4297A>T (p.Thr1433Ser)
c.2329A>T (p.Thr777Ser)
c.985A>T (p.Thr329Ser)
c.4344A>T
c.5386A>T (p.Thr1796Ser)
c.4840A>T (p.Thr1614Ser)
c.4567A>T (p.Thr1523Ser)
n.513A>T
n.300A>T
c.1073A>T
c.5113A>T (p.Thr1705Ser)
c.4294A>T (p.Thr1432Ser)
c.3748A>T (p.Thr1250Ser)
c.5662A>T (p.Thr1888Ser)
c.5389A>T (p.Thr1797Ser)
c.4843A>T (p.Thr1615Ser)
c.4570A>T (p.Thr1524Ser)
c.4021A>T (p.Thr1341Ser)
c.5935A>T (p.Thr1979Ser)
c.5659A>T (p.Thr1887Ser)
 ClinVar dbSNP
9g.115040947T>CCA374629018TNCc.578A>G
c.3475A>G (p.Thr1159Ala)
c.4297A>G (p.Thr1433Ala)
c.2329A>G (p.Thr777Ala)
c.985A>G (p.Thr329Ala)
c.4344A>G
c.5386A>G (p.Thr1796Ala)
c.4840A>G (p.Thr1614Ala)
c.4567A>G (p.Thr1523Ala)
n.513A>G
n.300A>G
c.1073A>G
c.5113A>G (p.Thr1705Ala)
c.4294A>G (p.Thr1432Ala)
c.3748A>G (p.Thr1250Ala)
c.5662A>G (p.Thr1888Ala)
c.5389A>G (p.Thr1797Ala)
c.4843A>G (p.Thr1615Ala)
c.4570A>G (p.Thr1524Ala)
c.4021A>G (p.Thr1341Ala)
c.5935A>G (p.Thr1979Ala)
c.5659A>G (p.Thr1887Ala)
9g.115040947T>GCA374629016TNCc.578A>C
c.3475A>C (p.Thr1159Pro)
c.4297A>C (p.Thr1433Pro)
c.2329A>C (p.Thr777Pro)
c.985A>C (p.Thr329Pro)
c.4344A>C
c.5386A>C (p.Thr1796Pro)
c.4840A>C (p.Thr1614Pro)
c.4567A>C (p.Thr1523Pro)
n.513A>C
n.300A>C
c.1073A>C
c.5113A>C (p.Thr1705Pro)
c.4294A>C (p.Thr1432Pro)
c.3748A>C (p.Thr1250Pro)
c.5662A>C (p.Thr1888Pro)
c.5389A>C (p.Thr1797Pro)
c.4843A>C (p.Thr1615Pro)
c.4570A>C (p.Thr1524Pro)
c.4021A>C (p.Thr1341Pro)
c.5935A>C (p.Thr1979Pro)
c.5659A>C (p.Thr1887Pro)
9g.115040947T=CA1874116315TNCc.578A=
c.3475A= (p.Thr1159=)
c.4297A= (p.Thr1433=)
c.2329A= (p.Thr777=)
c.985A= (p.Thr329=)
c.4344A=
c.5386A= (p.Thr1796=)
c.4840A= (p.Thr1614=)
c.4567A= (p.Thr1523=)
n.513A=
n.300A=
c.1073A=
c.5113A= (p.Thr1705=)
c.4294A= (p.Thr1432=)
c.3748A= (p.Thr1250=)
c.5662A= (p.Thr1888=)
c.5389A= (p.Thr1797=)
c.4843A= (p.Thr1615=)
c.4570A= (p.Thr1524=)
c.4021A= (p.Thr1341=)
c.5935A= (p.Thr1979=)
c.5659A= (p.Thr1887=)
9g.115040948G>ACA466790949TNCc.577C>T
c.3474C>T (p.Phe1158=)
c.4296C>T (p.Phe1432=)
c.2328C>T (p.Phe776=)
c.984C>T (p.Phe328=)
c.4343C>T
c.5385C>T (p.Phe1795=)
c.4839C>T (p.Phe1613=)
c.4566C>T (p.Phe1522=)
n.512C>T
n.299C>T
c.1072C>T
c.5112C>T (p.Phe1704=)
c.4293C>T (p.Phe1431=)
c.3747C>T (p.Phe1249=)
c.5661C>T (p.Phe1887=)
c.5388C>T (p.Phe1796=)
c.4842C>T (p.Phe1614=)
c.4569C>T (p.Phe1523=)
c.4020C>T (p.Phe1340=)
c.5934C>T (p.Phe1978=)
c.5658C>T (p.Phe1886=)
 dbSNP gnomAD v2 gnomAD v4
9g.115040948G>CCA374629020TNCc.577C>G
c.3474C>G (p.Phe1158Leu)
c.4296C>G (p.Phe1432Leu)
c.2328C>G (p.Phe776Leu)
c.984C>G (p.Phe328Leu)
c.4343C>G
c.5385C>G (p.Phe1795Leu)
c.4839C>G (p.Phe1613Leu)
c.4566C>G (p.Phe1522Leu)
n.512C>G
n.299C>G
c.1072C>G
c.5112C>G (p.Phe1704Leu)
c.4293C>G (p.Phe1431Leu)
c.3747C>G (p.Phe1249Leu)
c.5661C>G (p.Phe1887Leu)
c.5388C>G (p.Phe1796Leu)
c.4842C>G (p.Phe1614Leu)
c.4569C>G (p.Phe1523Leu)
c.4020C>G (p.Phe1340Leu)
c.5934C>G (p.Phe1978Leu)
c.5658C>G (p.Phe1886Leu)
9g.115040948G=CA1874116316TNCc.577C=
c.3474C= (p.Phe1158=)
c.4296C= (p.Phe1432=)
c.2328C= (p.Phe776=)
c.984C= (p.Phe328=)
c.4343C=
c.5385C= (p.Phe1795=)
c.4839C= (p.Phe1613=)
c.4566C= (p.Phe1522=)
n.512C=
n.299C=
c.1072C=
c.5112C= (p.Phe1704=)
c.4293C= (p.Phe1431=)
c.3747C= (p.Phe1249=)
c.5661C= (p.Phe1887=)
c.5388C= (p.Phe1796=)
c.4842C= (p.Phe1614=)
c.4569C= (p.Phe1523=)
c.4020C= (p.Phe1340=)
c.5934C= (p.Phe1978=)
c.5658C= (p.Phe1886=)
9g.115040948G>TCA374629022TNCc.577C>A
c.3474C>A (p.Phe1158Leu)
c.4296C>A (p.Phe1432Leu)
c.2328C>A (p.Phe776Leu)
c.984C>A (p.Phe328Leu)
c.4343C>A
c.5385C>A (p.Phe1795Leu)
c.4839C>A (p.Phe1613Leu)
c.4566C>A (p.Phe1522Leu)
n.512C>A
n.299C>A
c.1072C>A
c.5112C>A (p.Phe1704Leu)
c.4293C>A (p.Phe1431Leu)
c.3747C>A (p.Phe1249Leu)
c.5661C>A (p.Phe1887Leu)
c.5388C>A (p.Phe1796Leu)
c.4842C>A (p.Phe1614Leu)
c.4569C>A (p.Phe1523Leu)
c.4020C>A (p.Phe1340Leu)
c.5934C>A (p.Phe1978Leu)
c.5658C>A (p.Phe1886Leu)
9g.115040949A>CCA374629024TNCc.576T>G
c.3473T>G (p.Phe1158Cys)
c.4295T>G (p.Phe1432Cys)
c.2327T>G (p.Phe776Cys)
c.983T>G (p.Phe328Cys)
c.4342T>G
c.5384T>G (p.Phe1795Cys)
c.4838T>G (p.Phe1613Cys)
c.4565T>G (p.Phe1522Cys)
n.511T>G
n.298T>G
c.1071T>G
c.5111T>G (p.Phe1704Cys)
c.4292T>G (p.Phe1431Cys)
c.3746T>G (p.Phe1249Cys)
c.5660T>G (p.Phe1887Cys)
c.5387T>G (p.Phe1796Cys)
c.4841T>G (p.Phe1614Cys)
c.4568T>G (p.Phe1523Cys)
c.4019T>G (p.Phe1340Cys)
c.5933T>G (p.Phe1978Cys)
c.5657T>G (p.Phe1886Cys)
9g.115040949A>GCA374629026TNCc.576T>C
c.3473T>C (p.Phe1158Ser)
c.4295T>C (p.Phe1432Ser)
c.2327T>C (p.Phe776Ser)
c.983T>C (p.Phe328Ser)
c.4342T>C
c.5384T>C (p.Phe1795Ser)
c.4838T>C (p.Phe1613Ser)
c.4565T>C (p.Phe1522Ser)
n.511T>C
n.298T>C
c.1071T>C
c.5111T>C (p.Phe1704Ser)
c.4292T>C (p.Phe1431Ser)
c.3746T>C (p.Phe1249Ser)
c.5660T>C (p.Phe1887Ser)
c.5387T>C (p.Phe1796Ser)
c.4841T>C (p.Phe1614Ser)
c.4568T>C (p.Phe1523Ser)
c.4019T>C (p.Phe1340Ser)
c.5933T>C (p.Phe1978Ser)
c.5657T>C (p.Phe1886Ser)
9g.115040949A>TCA374629028TNCc.576T>A
c.3473T>A (p.Phe1158Tyr)
c.4295T>A (p.Phe1432Tyr)
c.2327T>A (p.Phe776Tyr)
c.983T>A (p.Phe328Tyr)
c.4342T>A
c.5384T>A (p.Phe1795Tyr)
c.4838T>A (p.Phe1613Tyr)
c.4565T>A (p.Phe1522Tyr)
n.511T>A
n.298T>A
c.1071T>A
c.5111T>A (p.Phe1704Tyr)
c.4292T>A (p.Phe1431Tyr)
c.3746T>A (p.Phe1249Tyr)
c.5660T>A (p.Phe1887Tyr)
c.5387T>A (p.Phe1796Tyr)
c.4841T>A (p.Phe1614Tyr)
c.4568T>A (p.Phe1523Tyr)
c.4019T>A (p.Phe1340Tyr)
c.5933T>A (p.Phe1978Tyr)
c.5657T>A (p.Phe1886Tyr)
9g.115040950A>CCA374629030TNCc.575T>G
c.3472T>G (p.Phe1158Val)
c.4294T>G (p.Phe1432Val)
c.2326T>G (p.Phe776Val)
c.982T>G (p.Phe328Val)
c.4341T>G
c.5383T>G (p.Phe1795Val)
c.4837T>G (p.Phe1613Val)
c.4564T>G (p.Phe1522Val)
n.510T>G
n.297T>G
c.1070T>G
c.5110T>G (p.Phe1704Val)
c.4291T>G (p.Phe1431Val)
c.3745T>G (p.Phe1249Val)
c.5659T>G (p.Phe1887Val)
c.5386T>G (p.Phe1796Val)
c.4840T>G (p.Phe1614Val)
c.4567T>G (p.Phe1523Val)
c.4018T>G (p.Phe1340Val)
c.5932T>G (p.Phe1978Val)
c.5656T>G (p.Phe1886Val)
9g.115040950A>GCA374629032TNCc.575T>C
c.3472T>C (p.Phe1158Leu)
c.4294T>C (p.Phe1432Leu)
c.2326T>C (p.Phe776Leu)
c.982T>C (p.Phe328Leu)
c.4341T>C
c.5383T>C (p.Phe1795Leu)
c.4837T>C (p.Phe1613Leu)
c.4564T>C (p.Phe1522Leu)
n.510T>C
n.297T>C
c.1070T>C
c.5110T>C (p.Phe1704Leu)
c.4291T>C (p.Phe1431Leu)
c.3745T>C (p.Phe1249Leu)
c.5659T>C (p.Phe1887Leu)
c.5386T>C (p.Phe1796Leu)
c.4840T>C (p.Phe1614Leu)
c.4567T>C (p.Phe1523Leu)
c.4018T>C (p.Phe1340Leu)
c.5932T>C (p.Phe1978Leu)
c.5656T>C (p.Phe1886Leu)
9g.115040950A>TCA374629034TNCc.575T>A
c.3472T>A (p.Phe1158Ile)
c.4294T>A (p.Phe1432Ile)
c.2326T>A (p.Phe776Ile)
c.982T>A (p.Phe328Ile)
c.4341T>A
c.5383T>A (p.Phe1795Ile)
c.4837T>A (p.Phe1613Ile)
c.4564T>A (p.Phe1522Ile)
n.510T>A
n.297T>A
c.1070T>A
c.5110T>A (p.Phe1704Ile)
c.4291T>A (p.Phe1431Ile)
c.3745T>A (p.Phe1249Ile)
c.5659T>A (p.Phe1887Ile)
c.5386T>A (p.Phe1796Ile)
c.4840T>A (p.Phe1614Ile)
c.4567T>A (p.Phe1523Ile)
c.4018T>A (p.Phe1340Ile)
c.5932T>A (p.Phe1978Ile)
c.5656T>A (p.Phe1886Ile)
9g.115040951T>ACA466790950TNCc.574A>T
c.3471A>T (p.Ser1157=)
c.4293A>T (p.Ser1431=)
c.2325A>T (p.Ser775=)
c.981A>T (p.Ser327=)
c.4340A>T
c.5382A>T (p.Ser1794=)
c.4836A>T (p.Ser1612=)
c.4563A>T (p.Ser1521=)
n.509A>T
n.296A>T
c.1069A>T
c.5109A>T (p.Ser1703=)
c.4290A>T (p.Ser1430=)
c.3744A>T (p.Ser1248=)
c.5658A>T (p.Ser1886=)
c.5385A>T (p.Ser1795=)
c.4839A>T (p.Ser1613=)
c.4566A>T (p.Ser1522=)
c.4017A>T (p.Ser1339=)
c.5931A>T (p.Ser1977=)
c.5655A>T (p.Ser1885=)
9g.115040951T>CCA466790951TNCc.574A>G
c.3471A>G (p.Ser1157=)
c.4293A>G (p.Ser1431=)
c.2325A>G (p.Ser775=)
c.981A>G (p.Ser327=)
c.4340A>G
c.5382A>G (p.Ser1794=)
c.4836A>G (p.Ser1612=)
c.4563A>G (p.Ser1521=)
n.509A>G
n.296A>G
c.1069A>G
c.5109A>G (p.Ser1703=)
c.4290A>G (p.Ser1430=)
c.3744A>G (p.Ser1248=)
c.5658A>G (p.Ser1886=)
c.5385A>G (p.Ser1795=)
c.4839A>G (p.Ser1613=)
c.4566A>G (p.Ser1522=)
c.4017A>G (p.Ser1339=)
c.5931A>G (p.Ser1977=)
c.5655A>G (p.Ser1885=)
 gnomAD v4
9g.115040951T>GCA466790952TNCc.574A>C
c.3471A>C (p.Ser1157=)
c.4293A>C (p.Ser1431=)
c.2325A>C (p.Ser775=)
c.981A>C (p.Ser327=)
c.4340A>C
c.5382A>C (p.Ser1794=)
c.4836A>C (p.Ser1612=)
c.4563A>C (p.Ser1521=)
n.509A>C
n.296A>C
c.1069A>C
c.5109A>C (p.Ser1703=)
c.4290A>C (p.Ser1430=)
c.3744A>C (p.Ser1248=)
c.5658A>C (p.Ser1886=)
c.5385A>C (p.Ser1795=)
c.4839A>C (p.Ser1613=)
c.4566A>C (p.Ser1522=)
c.4017A>C (p.Ser1339=)
c.5931A>C (p.Ser1977=)
c.5655A>C (p.Ser1885=)
 dbSNP gnomAD v4
9g.115040951T=CA1874116317TNCc.574A=
c.3471A= (p.Ser1157=)
c.4293A= (p.Ser1431=)
c.2325A= (p.Ser775=)
c.981A= (p.Ser327=)
c.4340A=
c.5382A= (p.Ser1794=)
c.4836A= (p.Ser1612=)
c.4563A= (p.Ser1521=)
n.509A=
n.296A=
c.1069A=
c.5109A= (p.Ser1703=)
c.4290A= (p.Ser1430=)
c.3744A= (p.Ser1248=)
c.5658A= (p.Ser1886=)
c.5385A= (p.Ser1795=)
c.4839A= (p.Ser1613=)
c.4566A= (p.Ser1522=)
c.4017A= (p.Ser1339=)
c.5931A= (p.Ser1977=)
c.5655A= (p.Ser1885=)
9g.115040952G>ACA374629036TNCc.573C>T
c.3470C>T (p.Ser1157Leu)
c.4292C>T (p.Ser1431Leu)
c.2324C>T (p.Ser775Leu)
c.980C>T (p.Ser327Leu)
c.4339C>T
c.5381C>T (p.Ser1794Leu)
c.4835C>T (p.Ser1612Leu)
c.4562C>T (p.Ser1521Leu)
n.508C>T
n.295C>T
c.1068C>T
c.5108C>T (p.Ser1703Leu)
c.4289C>T (p.Ser1430Leu)
c.3743C>T (p.Ser1248Leu)
c.5657C>T (p.Ser1886Leu)
c.5384C>T (p.Ser1795Leu)
c.4838C>T (p.Ser1613Leu)
c.4565C>T (p.Ser1522Leu)
c.4016C>T (p.Ser1339Leu)
c.5930C>T (p.Ser1977Leu)
c.5654C>T (p.Ser1885Leu)
 gnomAD v4
9g.115040952G>CCA374629038TNCc.573C>G
c.3470C>G (p.Ser1157Ter)
c.4292C>G (p.Ser1431Ter)
c.2324C>G (p.Ser775Ter)
c.980C>G (p.Ser327Ter)
c.4339C>G
c.5381C>G (p.Ser1794Ter)
c.4835C>G (p.Ser1612Ter)
c.4562C>G (p.Ser1521Ter)
n.508C>G
n.295C>G
c.1068C>G
c.5108C>G (p.Ser1703Ter)
c.4289C>G (p.Ser1430Ter)
c.3743C>G (p.Ser1248Ter)
c.5657C>G (p.Ser1886Ter)
c.5384C>G (p.Ser1795Ter)
c.4838C>G (p.Ser1613Ter)
c.4565C>G (p.Ser1522Ter)
c.4016C>G (p.Ser1339Ter)
c.5930C>G (p.Ser1977Ter)
c.5654C>G (p.Ser1885Ter)
9g.115040952G>TCA374629040TNCc.573C>A
c.3470C>A (p.Ser1157Ter)
c.4292C>A (p.Ser1431Ter)
c.2324C>A (p.Ser775Ter)
c.980C>A (p.Ser327Ter)
c.4339C>A
c.5381C>A (p.Ser1794Ter)
c.4835C>A (p.Ser1612Ter)
c.4562C>A (p.Ser1521Ter)
n.508C>A
n.295C>A
c.1068C>A
c.5108C>A (p.Ser1703Ter)
c.4289C>A (p.Ser1430Ter)
c.3743C>A (p.Ser1248Ter)
c.5657C>A (p.Ser1886Ter)
c.5384C>A (p.Ser1795Ter)
c.4838C>A (p.Ser1613Ter)
c.4565C>A (p.Ser1522Ter)
c.4016C>A (p.Ser1339Ter)
c.5930C>A (p.Ser1977Ter)
c.5654C>A (p.Ser1885Ter)
 gnomAD v4
9g.115040953A>CCA374629042TNCc.572T>G
c.3469T>G (p.Ser1157Ala)
c.4291T>G (p.Ser1431Ala)
c.2323T>G (p.Ser775Ala)
c.979T>G (p.Ser327Ala)
c.4338T>G
c.5380T>G (p.Ser1794Ala)
c.4834T>G (p.Ser1612Ala)
c.4561T>G (p.Ser1521Ala)
n.507T>G
n.294T>G
c.1067T>G
c.5107T>G (p.Ser1703Ala)
c.4288T>G (p.Ser1430Ala)
c.3742T>G (p.Ser1248Ala)
c.5656T>G (p.Ser1886Ala)
c.5383T>G (p.Ser1795Ala)
c.4837T>G (p.Ser1613Ala)
c.4564T>G (p.Ser1522Ala)
c.4015T>G (p.Ser1339Ala)
c.5929T>G (p.Ser1977Ala)
c.5653T>G (p.Ser1885Ala)
9g.115040953A>GCA374629046TNCc.572T>C
c.3469T>C (p.Ser1157Pro)
c.4291T>C (p.Ser1431Pro)
c.2323T>C (p.Ser775Pro)
c.979T>C (p.Ser327Pro)
c.4338T>C
c.5380T>C (p.Ser1794Pro)
c.4834T>C (p.Ser1612Pro)
c.4561T>C (p.Ser1521Pro)
n.507T>C
n.294T>C
c.1067T>C
c.5107T>C (p.Ser1703Pro)
c.4288T>C (p.Ser1430Pro)
c.3742T>C (p.Ser1248Pro)
c.5656T>C (p.Ser1886Pro)
c.5383T>C (p.Ser1795Pro)
c.4837T>C (p.Ser1613Pro)
c.4564T>C (p.Ser1522Pro)
c.4015T>C (p.Ser1339Pro)
c.5929T>C (p.Ser1977Pro)
c.5653T>C (p.Ser1885Pro)
9g.115040953A>TCA374629044TNCc.572T>A
c.3469T>A (p.Ser1157Thr)
c.4291T>A (p.Ser1431Thr)
c.2323T>A (p.Ser775Thr)
c.979T>A (p.Ser327Thr)
c.4338T>A
c.5380T>A (p.Ser1794Thr)
c.4834T>A (p.Ser1612Thr)
c.4561T>A (p.Ser1521Thr)
n.507T>A
n.294T>A
c.1067T>A
c.5107T>A (p.Ser1703Thr)
c.4288T>A (p.Ser1430Thr)
c.3742T>A (p.Ser1248Thr)
c.5656T>A (p.Ser1886Thr)
c.5383T>A (p.Ser1795Thr)
c.4837T>A (p.Ser1613Thr)
c.4564T>A (p.Ser1522Thr)
c.4015T>A (p.Ser1339Thr)
c.5929T>A (p.Ser1977Thr)
c.5653T>A (p.Ser1885Thr)
9g.115040954C>ACA466790953TNCc.571G>T
c.3468G>T (p.Gly1156=)
c.4290G>T (p.Gly1430=)
c.2322G>T (p.Gly774=)
c.978G>T (p.Gly326=)
c.4337G>T
c.5379G>T (p.Gly1793=)
c.4833G>T (p.Gly1611=)
c.4560G>T (p.Gly1520=)
n.506G>T
n.293G>T
c.1066G>T
c.5106G>T (p.Gly1702=)
c.4287G>T (p.Gly1429=)
c.3741G>T (p.Gly1247=)
c.5655G>T (p.Gly1885=)
c.5382G>T (p.Gly1794=)
c.4836G>T (p.Gly1612=)
c.4563G>T (p.Gly1521=)
c.4014G>T (p.Gly1338=)
c.5928G>T (p.Gly1976=)
c.5652G>T (p.Gly1884=)
9g.115040954C>GCA466790954TNCc.571G>C
c.3468G>C (p.Gly1156=)
c.4290G>C (p.Gly1430=)
c.2322G>C (p.Gly774=)
c.978G>C (p.Gly326=)
c.4337G>C
c.5379G>C (p.Gly1793=)
c.4833G>C (p.Gly1611=)
c.4560G>C (p.Gly1520=)
n.506G>C
n.293G>C
c.1066G>C
c.5106G>C (p.Gly1702=)
c.4287G>C (p.Gly1429=)
c.3741G>C (p.Gly1247=)
c.5655G>C (p.Gly1885=)
c.5382G>C (p.Gly1794=)
c.4836G>C (p.Gly1612=)
c.4563G>C (p.Gly1521=)
c.4014G>C (p.Gly1338=)
c.5928G>C (p.Gly1976=)
c.5652G>C (p.Gly1884=)
9g.115040954C>TCA466790955TNCc.571G>A
c.3468G>A (p.Gly1156=)
c.4290G>A (p.Gly1430=)
c.2322G>A (p.Gly774=)
c.978G>A (p.Gly326=)
c.4337G>A
c.5379G>A (p.Gly1793=)
c.4833G>A (p.Gly1611=)
c.4560G>A (p.Gly1520=)
n.506G>A
n.293G>A
c.1066G>A
c.5106G>A (p.Gly1702=)
c.4287G>A (p.Gly1429=)
c.3741G>A (p.Gly1247=)
c.5655G>A (p.Gly1885=)
c.5382G>A (p.Gly1794=)
c.4836G>A (p.Gly1612=)
c.4563G>A (p.Gly1521=)
c.4014G>A (p.Gly1338=)
c.5928G>A (p.Gly1976=)
c.5652G>A (p.Gly1884=)
 gnomAD v4
9g.115040954_115040955insTCAGCAGCA2519149621TNCc.570_571insCTGCTGA
c.3467_3468insCTGCTGA (p.Ser1157CysfsTer2)
c.4289_4290insCTGCTGA (p.Ser1431CysfsTer2)
c.2321_2322insCTGCTGA (p.Ser775CysfsTer2)
c.977_978insCTGCTGA (p.Ser327CysfsTer2)
c.4336_4337insCTGCTGA
c.5378_5379insCTGCTGA (p.Ser1794CysfsTer2)
c.4832_4833insCTGCTGA (p.Ser1612CysfsTer2)
c.4559_4560insCTGCTGA (p.Ser1521CysfsTer2)
n.505_506insCTGCTGA
n.292_293insCTGCTGA
c.1065_1066insCTGCTGA
c.5105_5106insCTGCTGA (p.Ser1703CysfsTer2)
c.4286_4287insCTGCTGA (p.Ser1430CysfsTer2)
c.3740_3741insCTGCTGA (p.Ser1248CysfsTer2)
c.5654_5655insCTGCTGA (p.Ser1886CysfsTer2)
c.5381_5382insCTGCTGA (p.Ser1795CysfsTer2)
c.4835_4836insCTGCTGA (p.Ser1613CysfsTer2)
c.4562_4563insCTGCTGA (p.Ser1522CysfsTer2)
c.4013_4014insCTGCTGA (p.Ser1339CysfsTer2)
c.5927_5928insCTGCTGA (p.Ser1977CysfsTer2)
c.5651_5652insCTGCTGA (p.Ser1885CysfsTer2)
9g.115040955C>ACA374629049TNCc.570G>T
c.3467G>T (p.Gly1156Val)
c.4289G>T (p.Gly1430Val)
c.2321G>T (p.Gly774Val)
c.977G>T (p.Gly326Val)
c.4336G>T
c.5378G>T (p.Gly1793Val)
c.4832G>T (p.Gly1611Val)
c.4559G>T (p.Gly1520Val)
n.505G>T
n.292G>T
c.1065G>T
c.5105G>T (p.Gly1702Val)
c.4286G>T (p.Gly1429Val)
c.3740G>T (p.Gly1247Val)
c.5654G>T (p.Gly1885Val)
c.5381G>T (p.Gly1794Val)
c.4835G>T (p.Gly1612Val)
c.4562G>T (p.Gly1521Val)
c.4013G>T (p.Gly1338Val)
c.5927G>T (p.Gly1976Val)
c.5651G>T (p.Gly1884Val)
9g.115040955C>GCA374629051TNCc.570G>C
c.3467G>C (p.Gly1156Ala)
c.4289G>C (p.Gly1430Ala)
c.2321G>C (p.Gly774Ala)
c.977G>C (p.Gly326Ala)
c.4336G>C
c.5378G>C (p.Gly1793Ala)
c.4832G>C (p.Gly1611Ala)
c.4559G>C (p.Gly1520Ala)
n.505G>C
n.292G>C
c.1065G>C
c.5105G>C (p.Gly1702Ala)
c.4286G>C (p.Gly1429Ala)
c.3740G>C (p.Gly1247Ala)
c.5654G>C (p.Gly1885Ala)
c.5381G>C (p.Gly1794Ala)
c.4835G>C (p.Gly1612Ala)
c.4562G>C (p.Gly1521Ala)
c.4013G>C (p.Gly1338Ala)
c.5927G>C (p.Gly1976Ala)
c.5651G>C (p.Gly1884Ala)
 gnomAD v4
9g.115040955C>TCA374629053TNCc.570G>A
c.3467G>A (p.Gly1156Glu)
c.4289G>A (p.Gly1430Glu)
c.2321G>A (p.Gly774Glu)
c.977G>A (p.Gly326Glu)
c.4336G>A
c.5378G>A (p.Gly1793Glu)
c.4832G>A (p.Gly1611Glu)
c.4559G>A (p.Gly1520Glu)
n.505G>A
n.292G>A
c.1065G>A
c.5105G>A (p.Gly1702Glu)
c.4286G>A (p.Gly1429Glu)
c.3740G>A (p.Gly1247Glu)
c.5654G>A (p.Gly1885Glu)
c.5381G>A (p.Gly1794Glu)
c.4835G>A (p.Gly1612Glu)
c.4562G>A (p.Gly1521Glu)
c.4013G>A (p.Gly1338Glu)
c.5927G>A (p.Gly1976Glu)
c.5651G>A (p.Gly1884Glu)
 gnomAD v4
9g.115040956C>ACA374629056TNCc.569G>T
c.3466G>T (p.Gly1156Trp)
c.4288G>T (p.Gly1430Trp)
c.2320G>T (p.Gly774Trp)
c.976G>T (p.Gly326Trp)
c.4335G>T
c.5377G>T (p.Gly1793Trp)
c.4831G>T (p.Gly1611Trp)
c.4558G>T (p.Gly1520Trp)
n.504G>T
n.291G>T
c.1064G>T
c.5104G>T (p.Gly1702Trp)
c.4285G>T (p.Gly1429Trp)
c.3739G>T (p.Gly1247Trp)
c.5653G>T (p.Gly1885Trp)
c.5380G>T (p.Gly1794Trp)
c.4834G>T (p.Gly1612Trp)
c.4561G>T (p.Gly1521Trp)
c.4012G>T (p.Gly1338Trp)
c.5926G>T (p.Gly1976Trp)
c.5650G>T (p.Gly1884Trp)
9g.115040956C>GCA374629057TNCc.569G>C
c.3466G>C (p.Gly1156Arg)
c.4288G>C (p.Gly1430Arg)
c.2320G>C (p.Gly774Arg)
c.976G>C (p.Gly326Arg)
c.4335G>C
c.5377G>C (p.Gly1793Arg)
c.4831G>C (p.Gly1611Arg)
c.4558G>C (p.Gly1520Arg)
n.504G>C
n.291G>C
c.1064G>C
c.5104G>C (p.Gly1702Arg)
c.4285G>C (p.Gly1429Arg)
c.3739G>C (p.Gly1247Arg)
c.5653G>C (p.Gly1885Arg)
c.5380G>C (p.Gly1794Arg)
c.4834G>C (p.Gly1612Arg)
c.4561G>C (p.Gly1521Arg)
c.4012G>C (p.Gly1338Arg)
c.5926G>C (p.Gly1976Arg)
c.5650G>C (p.Gly1884Arg)
9g.115040956C>TCA374629058TNCc.569G>A
c.3466G>A (p.Gly1156Arg)
c.4288G>A (p.Gly1430Arg)
c.2320G>A (p.Gly774Arg)
c.976G>A (p.Gly326Arg)
c.4335G>A
c.5377G>A (p.Gly1793Arg)
c.4831G>A (p.Gly1611Arg)
c.4558G>A (p.Gly1520Arg)
n.504G>A
n.291G>A
c.1064G>A
c.5104G>A (p.Gly1702Arg)
c.4285G>A (p.Gly1429Arg)
c.3739G>A (p.Gly1247Arg)
c.5653G>A (p.Gly1885Arg)
c.5380G>A (p.Gly1794Arg)
c.4834G>A (p.Gly1612Arg)
c.4561G>A (p.Gly1521Arg)
c.4012G>A (p.Gly1338Arg)
c.5926G>A (p.Gly1976Arg)
c.5650G>A (p.Gly1884Arg)
9g.115040957T>ACA466790958TNCc.568A>T
c.3465A>T (p.Ser1155=)
c.4287A>T (p.Ser1429=)
c.2319A>T (p.Ser773=)
c.975A>T (p.Ser325=)
c.4334A>T
c.5376A>T (p.Ser1792=)
c.4830A>T (p.Ser1610=)
c.4557A>T (p.Ser1519=)
n.503A>T
n.290A>T
c.1063A>T
c.5103A>T (p.Ser1701=)
c.4284A>T (p.Ser1428=)
c.3738A>T (p.Ser1246=)
c.5652A>T (p.Ser1884=)
c.5379A>T (p.Ser1793=)
c.4833A>T (p.Ser1611=)
c.4560A>T (p.Ser1520=)
c.4011A>T (p.Ser1337=)
c.5925A>T (p.Ser1975=)
c.5649A>T (p.Ser1883=)
9g.115040957T>CCA466790959TNCc.568A>G
c.3465A>G (p.Ser1155=)
c.4287A>G (p.Ser1429=)
c.2319A>G (p.Ser773=)
c.975A>G (p.Ser325=)
c.4334A>G
c.5376A>G (p.Ser1792=)
c.4830A>G (p.Ser1610=)
c.4557A>G (p.Ser1519=)
n.503A>G
n.290A>G
c.1063A>G
c.5103A>G (p.Ser1701=)
c.4284A>G (p.Ser1428=)
c.3738A>G (p.Ser1246=)
c.5652A>G (p.Ser1884=)
c.5379A>G (p.Ser1793=)
c.4833A>G (p.Ser1611=)
c.4560A>G (p.Ser1520=)
c.4011A>G (p.Ser1337=)
c.5925A>G (p.Ser1975=)
c.5649A>G (p.Ser1883=)
9g.115040957T>GCA466790961TNCc.568A>C
c.3465A>C (p.Ser1155=)
c.4287A>C (p.Ser1429=)
c.2319A>C (p.Ser773=)
c.975A>C (p.Ser325=)
c.4334A>C
c.5376A>C (p.Ser1792=)
c.4830A>C (p.Ser1610=)
c.4557A>C (p.Ser1519=)
n.503A>C
n.290A>C
c.1063A>C
c.5103A>C (p.Ser1701=)
c.4284A>C (p.Ser1428=)
c.3738A>C (p.Ser1246=)
c.5652A>C (p.Ser1884=)
c.5379A>C (p.Ser1793=)
c.4833A>C (p.Ser1611=)
c.4560A>C (p.Ser1520=)
c.4011A>C (p.Ser1337=)
c.5925A>C (p.Ser1975=)
c.5649A>C (p.Ser1883=)
9g.115040958G>ACA374629060TNCc.567C>T
c.3464C>T (p.Ser1155Leu)
c.4286C>T (p.Ser1429Leu)
c.2318C>T (p.Ser773Leu)
c.974C>T (p.Ser325Leu)
c.4333C>T
c.5375C>T (p.Ser1792Leu)
c.4829C>T (p.Ser1610Leu)
c.4556C>T (p.Ser1519Leu)
n.502C>T
n.289C>T
c.1062C>T
c.5102C>T (p.Ser1701Leu)
c.4283C>T (p.Ser1428Leu)
c.3737C>T (p.Ser1246Leu)
c.5651C>T (p.Ser1884Leu)
c.5378C>T (p.Ser1793Leu)
c.4832C>T (p.Ser1611Leu)
c.4559C>T (p.Ser1520Leu)
c.4010C>T (p.Ser1337Leu)
c.5924C>T (p.Ser1975Leu)
c.5648C>T (p.Ser1883Leu)
9g.115040958G>CCA374629061TNCc.567C>G
c.3464C>G (p.Ser1155Ter)
c.4286C>G (p.Ser1429Ter)
c.2318C>G (p.Ser773Ter)
c.974C>G (p.Ser325Ter)
c.4333C>G
c.5375C>G (p.Ser1792Ter)
c.4829C>G (p.Ser1610Ter)
c.4556C>G (p.Ser1519Ter)
n.502C>G
n.289C>G
c.1062C>G
c.5102C>G (p.Ser1701Ter)
c.4283C>G (p.Ser1428Ter)
c.3737C>G (p.Ser1246Ter)
c.5651C>G (p.Ser1884Ter)
c.5378C>G (p.Ser1793Ter)
c.4832C>G (p.Ser1611Ter)
c.4559C>G (p.Ser1520Ter)
c.4010C>G (p.Ser1337Ter)
c.5924C>G (p.Ser1975Ter)
c.5648C>G (p.Ser1883Ter)
9g.115040958G>TCA374629062TNCc.567C>A
c.3464C>A (p.Ser1155Ter)
c.4286C>A (p.Ser1429Ter)
c.2318C>A (p.Ser773Ter)
c.974C>A (p.Ser325Ter)
c.4333C>A
c.5375C>A (p.Ser1792Ter)
c.4829C>A (p.Ser1610Ter)
c.4556C>A (p.Ser1519Ter)
n.502C>A
n.289C>A
c.1062C>A
c.5102C>A (p.Ser1701Ter)
c.4283C>A (p.Ser1428Ter)
c.3737C>A (p.Ser1246Ter)
c.5651C>A (p.Ser1884Ter)
c.5378C>A (p.Ser1793Ter)
c.4832C>A (p.Ser1611Ter)
c.4559C>A (p.Ser1520Ter)
c.4010C>A (p.Ser1337Ter)
c.5924C>A (p.Ser1975Ter)
c.5648C>A (p.Ser1883Ter)
9g.115040959A=CA1874116318TNCc.566T=
c.3463T= (p.Ser1155=)
c.4285T= (p.Ser1429=)
c.2317T= (p.Ser773=)
c.973T= (p.Ser325=)
c.4332T=
c.5374T= (p.Ser1792=)
c.4828T= (p.Ser1610=)
c.4555T= (p.Ser1519=)
n.501T=
n.288T=
c.1061T=
c.5101T= (p.Ser1701=)
c.4282T= (p.Ser1428=)
c.3736T= (p.Ser1246=)
c.5650T= (p.Ser1884=)
c.5377T= (p.Ser1793=)
c.4831T= (p.Ser1611=)
c.4558T= (p.Ser1520=)
c.4009T= (p.Ser1337=)
c.5923T= (p.Ser1975=)
c.5647T= (p.Ser1883=)
9g.115040959A>CCA5207677TNCc.566T>G
c.3463T>G (p.Ser1155Ala)
c.4285T>G (p.Ser1429Ala)
c.2317T>G (p.Ser773Ala)
c.973T>G (p.Ser325Ala)
c.4332T>G
c.5374T>G (p.Ser1792Ala)
c.4828T>G (p.Ser1610Ala)
c.4555T>G (p.Ser1519Ala)
n.501T>G
n.288T>G
c.1061T>G
c.5101T>G (p.Ser1701Ala)
c.4282T>G (p.Ser1428Ala)
c.3736T>G (p.Ser1246Ala)
c.5650T>G (p.Ser1884Ala)
c.5377T>G (p.Ser1793Ala)
c.4831T>G (p.Ser1611Ala)
c.4558T>G (p.Ser1520Ala)
c.4009T>G (p.Ser1337Ala)
c.5923T>G (p.Ser1975Ala)
c.5647T>G (p.Ser1883Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115040959A>GCA374629064TNCc.566T>C
c.3463T>C (p.Ser1155Pro)
c.4285T>C (p.Ser1429Pro)
c.2317T>C (p.Ser773Pro)
c.973T>C (p.Ser325Pro)
c.4332T>C
c.5374T>C (p.Ser1792Pro)
c.4828T>C (p.Ser1610Pro)
c.4555T>C (p.Ser1519Pro)
n.501T>C
n.288T>C
c.1061T>C
c.5101T>C (p.Ser1701Pro)
c.4282T>C (p.Ser1428Pro)
c.3736T>C (p.Ser1246Pro)
c.5650T>C (p.Ser1884Pro)
c.5377T>C (p.Ser1793Pro)
c.4831T>C (p.Ser1611Pro)
c.4558T>C (p.Ser1520Pro)
c.4009T>C (p.Ser1337Pro)
c.5923T>C (p.Ser1975Pro)
c.5647T>C (p.Ser1883Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.115040959A>TCA374629066TNCc.566T>A
c.3463T>A (p.Ser1155Thr)
c.4285T>A (p.Ser1429Thr)
c.2317T>A (p.Ser773Thr)
c.973T>A (p.Ser325Thr)
c.4332T>A
c.5374T>A (p.Ser1792Thr)
c.4828T>A (p.Ser1610Thr)
c.4555T>A (p.Ser1519Thr)
n.501T>A
n.288T>A
c.1061T>A
c.5101T>A (p.Ser1701Thr)
c.4282T>A (p.Ser1428Thr)
c.3736T>A (p.Ser1246Thr)
c.5650T>A (p.Ser1884Thr)
c.5377T>A (p.Ser1793Thr)
c.4831T>A (p.Ser1611Thr)
c.4558T>A (p.Ser1520Thr)
c.4009T>A (p.Ser1337Thr)
c.5923T>A (p.Ser1975Thr)
c.5647T>A (p.Ser1883Thr)
9g.115040960G>ACA466790962TNCc.565C>T
c.3462C>T (p.Val1154=)
c.4284C>T (p.Val1428=)
c.2316C>T (p.Val772=)
c.972C>T (p.Val324=)
c.4331C>T
c.5373C>T (p.Val1791=)
c.4827C>T (p.Val1609=)
c.4554C>T (p.Val1518=)
n.500C>T
n.287C>T
c.1060C>T
c.5100C>T (p.Val1700=)
c.4281C>T (p.Val1427=)
c.3735C>T (p.Val1245=)
c.5649C>T (p.Val1883=)
c.5376C>T (p.Val1792=)
c.4830C>T (p.Val1610=)
c.4557C>T (p.Val1519=)
c.4008C>T (p.Val1336=)
c.5922C>T (p.Val1974=)
c.5646C>T (p.Val1882=)
9g.115040960G>CCA466790963TNCc.565C>G
c.3462C>G (p.Val1154=)
c.4284C>G (p.Val1428=)
c.2316C>G (p.Val772=)
c.972C>G (p.Val324=)
c.4331C>G
c.5373C>G (p.Val1791=)
c.4827C>G (p.Val1609=)
c.4554C>G (p.Val1518=)
n.500C>G
n.287C>G
c.1060C>G
c.5100C>G (p.Val1700=)
c.4281C>G (p.Val1427=)
c.3735C>G (p.Val1245=)
c.5649C>G (p.Val1883=)
c.5376C>G (p.Val1792=)
c.4830C>G (p.Val1610=)
c.4557C>G (p.Val1519=)
c.4008C>G (p.Val1336=)
c.5922C>G (p.Val1974=)
c.5646C>G (p.Val1882=)
9g.115040960G>TCA466790964TNCc.565C>A
c.3462C>A (p.Val1154=)
c.4284C>A (p.Val1428=)
c.2316C>A (p.Val772=)
c.972C>A (p.Val324=)
c.4331C>A
c.5373C>A (p.Val1791=)
c.4827C>A (p.Val1609=)
c.4554C>A (p.Val1518=)
n.500C>A
n.287C>A
c.1060C>A
c.5100C>A (p.Val1700=)
c.4281C>A (p.Val1427=)
c.3735C>A (p.Val1245=)
c.5649C>A (p.Val1883=)
c.5376C>A (p.Val1792=)
c.4830C>A (p.Val1610=)
c.4557C>A (p.Val1519=)
c.4008C>A (p.Val1336=)
c.5922C>A (p.Val1974=)
c.5646C>A (p.Val1882=)
9g.115040961A>CCA374629072TNCc.564T>G
c.3461T>G (p.Val1154Gly)
c.4283T>G (p.Val1428Gly)
c.2315T>G (p.Val772Gly)
c.971T>G (p.Val324Gly)
c.4330T>G
c.5372T>G (p.Val1791Gly)
c.4826T>G (p.Val1609Gly)
c.4553T>G (p.Val1518Gly)
n.499T>G
n.286T>G
c.1059T>G
c.5099T>G (p.Val1700Gly)
c.4280T>G (p.Val1427Gly)
c.3734T>G (p.Val1245Gly)
c.5648T>G (p.Val1883Gly)
c.5375T>G (p.Val1792Gly)
c.4829T>G (p.Val1610Gly)
c.4556T>G (p.Val1519Gly)
c.4007T>G (p.Val1336Gly)
c.5921T>G (p.Val1974Gly)
c.5645T>G (p.Val1882Gly)
9g.115040961A>GCA374629069TNCc.564T>C
c.3461T>C (p.Val1154Ala)
c.4283T>C (p.Val1428Ala)
c.2315T>C (p.Val772Ala)
c.971T>C (p.Val324Ala)
c.4330T>C
c.5372T>C (p.Val1791Ala)
c.4826T>C (p.Val1609Ala)
c.4553T>C (p.Val1518Ala)
n.499T>C
n.286T>C
c.1059T>C
c.5099T>C (p.Val1700Ala)
c.4280T>C (p.Val1427Ala)
c.3734T>C (p.Val1245Ala)
c.5648T>C (p.Val1883Ala)
c.5375T>C (p.Val1792Ala)
c.4829T>C (p.Val1610Ala)
c.4556T>C (p.Val1519Ala)
c.4007T>C (p.Val1336Ala)
c.5921T>C (p.Val1974Ala)
c.5645T>C (p.Val1882Ala)
9g.115040961A>TCA374629070TNCc.564T>A
c.3461T>A (p.Val1154Asp)
c.4283T>A (p.Val1428Asp)
c.2315T>A (p.Val772Asp)
c.971T>A (p.Val324Asp)
c.4330T>A
c.5372T>A (p.Val1791Asp)
c.4826T>A (p.Val1609Asp)
c.4553T>A (p.Val1518Asp)
n.499T>A
n.286T>A
c.1059T>A
c.5099T>A (p.Val1700Asp)
c.4280T>A (p.Val1427Asp)
c.3734T>A (p.Val1245Asp)
c.5648T>A (p.Val1883Asp)
c.5375T>A (p.Val1792Asp)
c.4829T>A (p.Val1610Asp)
c.4556T>A (p.Val1519Asp)
c.4007T>A (p.Val1336Asp)
c.5921T>A (p.Val1974Asp)
c.5645T>A (p.Val1882Asp)
 gnomAD v4
9g.115040962C>ACA374629073TNCc.563G>T
c.3460G>T (p.Val1154Phe)
c.4282G>T (p.Val1428Phe)
c.2314G>T (p.Val772Phe)
c.970G>T (p.Val324Phe)
c.4329G>T
c.5371G>T (p.Val1791Phe)
c.4825G>T (p.Val1609Phe)
c.4552G>T (p.Val1518Phe)
n.498G>T
n.285G>T
c.1058G>T
c.5098G>T (p.Val1700Phe)
c.4279G>T (p.Val1427Phe)
c.3733G>T (p.Val1245Phe)
c.5647G>T (p.Val1883Phe)
c.5374G>T (p.Val1792Phe)
c.4828G>T (p.Val1610Phe)
c.4555G>T (p.Val1519Phe)
c.4006G>T (p.Val1336Phe)
c.5920G>T (p.Val1974Phe)
c.5644G>T (p.Val1882Phe)
9g.115040962C=CA1874116319TNCc.563G=
c.3460G= (p.Val1154=)
c.4282G= (p.Val1428=)
c.2314G= (p.Val772=)
c.970G= (p.Val324=)
c.4329G=
c.5371G= (p.Val1791=)
c.4825G= (p.Val1609=)
c.4552G= (p.Val1518=)
n.498G=
n.285G=
c.1058G=
c.5098G= (p.Val1700=)
c.4279G= (p.Val1427=)
c.3733G= (p.Val1245=)
c.5647G= (p.Val1883=)
c.5374G= (p.Val1792=)
c.4828G= (p.Val1610=)
c.4555G= (p.Val1519=)
c.4006G= (p.Val1336=)
c.5920G= (p.Val1974=)
c.5644G= (p.Val1882=)
9g.115040962C>GCA374629075TNCc.563G>C
c.3460G>C (p.Val1154Leu)
c.4282G>C (p.Val1428Leu)
c.2314G>C (p.Val772Leu)
c.970G>C (p.Val324Leu)
c.4329G>C
c.5371G>C (p.Val1791Leu)
c.4825G>C (p.Val1609Leu)
c.4552G>C (p.Val1518Leu)
n.498G>C
n.285G>C
c.1058G>C
c.5098G>C (p.Val1700Leu)
c.4279G>C (p.Val1427Leu)
c.3733G>C (p.Val1245Leu)
c.5647G>C (p.Val1883Leu)
c.5374G>C (p.Val1792Leu)
c.4828G>C (p.Val1610Leu)
c.4555G>C (p.Val1519Leu)
c.4006G>C (p.Val1336Leu)
c.5920G>C (p.Val1974Leu)
c.5644G>C (p.Val1882Leu)
9g.115040962C>TCA374629077TNCc.563G>A
c.3460G>A (p.Val1154Ile)
c.4282G>A (p.Val1428Ile)
c.2314G>A (p.Val772Ile)
c.970G>A (p.Val324Ile)
c.4329G>A
c.5371G>A (p.Val1791Ile)
c.4825G>A (p.Val1609Ile)
c.4552G>A (p.Val1518Ile)
n.498G>A
n.285G>A
c.1058G>A
c.5098G>A (p.Val1700Ile)
c.4279G>A (p.Val1427Ile)
c.3733G>A (p.Val1245Ile)
c.5647G>A (p.Val1883Ile)
c.5374G>A (p.Val1792Ile)
c.4828G>A (p.Val1610Ile)
c.4555G>A (p.Val1519Ile)
c.4006G>A (p.Val1336Ile)
c.5920G>A (p.Val1974Ile)
c.5644G>A (p.Val1882Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.115040963A>CCA466790965TNCc.562T>G
c.3459T>G (p.Pro1153=)
c.4281T>G (p.Pro1427=)
c.2313T>G (p.Pro771=)
c.969T>G (p.Pro323=)
c.4328T>G
c.5370T>G (p.Pro1790=)
c.4824T>G (p.Pro1608=)
c.4551T>G (p.Pro1517=)
n.497T>G
n.284T>G
c.1057T>G
c.5097T>G (p.Pro1699=)
c.4278T>G (p.Pro1426=)
c.3732T>G (p.Pro1244=)
c.5646T>G (p.Pro1882=)
c.5373T>G (p.Pro1791=)
c.4827T>G (p.Pro1609=)
c.4554T>G (p.Pro1518=)
c.4005T>G (p.Pro1335=)
c.5919T>G (p.Pro1973=)
c.5643T>G (p.Pro1881=)
9g.115040963A>GCA466790966TNCc.562T>C
c.3459T>C (p.Pro1153=)
c.4281T>C (p.Pro1427=)
c.2313T>C (p.Pro771=)
c.969T>C (p.Pro323=)
c.4328T>C
c.5370T>C (p.Pro1790=)
c.4824T>C (p.Pro1608=)
c.4551T>C (p.Pro1517=)
n.497T>C
n.284T>C
c.1057T>C
c.5097T>C (p.Pro1699=)
c.4278T>C (p.Pro1426=)
c.3732T>C (p.Pro1244=)
c.5646T>C (p.Pro1882=)
c.5373T>C (p.Pro1791=)
c.4827T>C (p.Pro1609=)
c.4554T>C (p.Pro1518=)
c.4005T>C (p.Pro1335=)
c.5919T>C (p.Pro1973=)
c.5643T>C (p.Pro1881=)
9g.115040963A>TCA466790967TNCc.562T>A
c.3459T>A (p.Pro1153=)
c.4281T>A (p.Pro1427=)
c.2313T>A (p.Pro771=)
c.969T>A (p.Pro323=)
c.4328T>A
c.5370T>A (p.Pro1790=)
c.4824T>A (p.Pro1608=)
c.4551T>A (p.Pro1517=)
n.497T>A
n.284T>A
c.1057T>A
c.5097T>A (p.Pro1699=)
c.4278T>A (p.Pro1426=)
c.3732T>A (p.Pro1244=)
c.5646T>A (p.Pro1882=)
c.5373T>A (p.Pro1791=)
c.4827T>A (p.Pro1609=)
c.4554T>A (p.Pro1518=)
c.4005T>A (p.Pro1335=)
c.5919T>A (p.Pro1973=)
c.5643T>A (p.Pro1881=)
9g.115040964G>ACA374629078TNCc.561C>T
c.3458C>T (p.Pro1153Leu)
c.4280C>T (p.Pro1427Leu)
c.2312C>T (p.Pro771Leu)
c.968C>T (p.Pro323Leu)
c.4327C>T
c.5369C>T (p.Pro1790Leu)
c.4823C>T (p.Pro1608Leu)
c.4550C>T (p.Pro1517Leu)
n.496C>T
n.283C>T
c.1056C>T
c.5096C>T (p.Pro1699Leu)
c.4277C>T (p.Pro1426Leu)
c.3731C>T (p.Pro1244Leu)
c.5645C>T (p.Pro1882Leu)
c.5372C>T (p.Pro1791Leu)
c.4826C>T (p.Pro1609Leu)
c.4553C>T (p.Pro1518Leu)
c.4004C>T (p.Pro1335Leu)
c.5918C>T (p.Pro1973Leu)
c.5642C>T (p.Pro1881Leu)
9g.115040964G>CCA374629080TNCc.561C>G
c.3458C>G (p.Pro1153Arg)
c.4280C>G (p.Pro1427Arg)
c.2312C>G (p.Pro771Arg)
c.968C>G (p.Pro323Arg)
c.4327C>G
c.5369C>G (p.Pro1790Arg)
c.4823C>G (p.Pro1608Arg)
c.4550C>G (p.Pro1517Arg)
n.496C>G
n.283C>G
c.1056C>G
c.5096C>G (p.Pro1699Arg)
c.4277C>G (p.Pro1426Arg)
c.3731C>G (p.Pro1244Arg)
c.5645C>G (p.Pro1882Arg)
c.5372C>G (p.Pro1791Arg)
c.4826C>G (p.Pro1609Arg)
c.4553C>G (p.Pro1518Arg)
c.4004C>G (p.Pro1335Arg)
c.5918C>G (p.Pro1973Arg)
c.5642C>G (p.Pro1881Arg)
9g.115040964G>TCA374629082TNCc.561C>A
c.3458C>A (p.Pro1153His)
c.4280C>A (p.Pro1427His)
c.2312C>A (p.Pro771His)
c.968C>A (p.Pro323His)
c.4327C>A
c.5369C>A (p.Pro1790His)
c.4823C>A (p.Pro1608His)
c.4550C>A (p.Pro1517His)
n.496C>A
n.283C>A
c.1056C>A
c.5096C>A (p.Pro1699His)
c.4277C>A (p.Pro1426His)
c.3731C>A (p.Pro1244His)
c.5645C>A (p.Pro1882His)
c.5372C>A (p.Pro1791His)
c.4826C>A (p.Pro1609His)
c.4553C>A (p.Pro1518His)
c.4004C>A (p.Pro1335His)
c.5918C>A (p.Pro1973His)
c.5642C>A (p.Pro1881His)
 gnomAD v4
9g.115040965G>ACA374629084TNCc.560C>T
c.3457C>T (p.Pro1153Ser)
c.4279C>T (p.Pro1427Ser)
c.2311C>T (p.Pro771Ser)
c.967C>T (p.Pro323Ser)
c.4326C>T
c.5368C>T (p.Pro1790Ser)
c.4822C>T (p.Pro1608Ser)
c.4549C>T (p.Pro1517Ser)
n.495C>T
n.282C>T
c.1055C>T
c.5095C>T (p.Pro1699Ser)
c.4276C>T (p.Pro1426Ser)
c.3730C>T (p.Pro1244Ser)
c.5644C>T (p.Pro1882Ser)
c.5371C>T (p.Pro1791Ser)
c.4825C>T (p.Pro1609Ser)
c.4552C>T (p.Pro1518Ser)
c.4003C>T (p.Pro1335Ser)
c.5917C>T (p.Pro1973Ser)
c.5641C>T (p.Pro1881Ser)
 gnomAD v4
9g.115040965G>CCA374629086TNCc.560C>G
c.3457C>G (p.Pro1153Ala)
c.4279C>G (p.Pro1427Ala)
c.2311C>G (p.Pro771Ala)
c.967C>G (p.Pro323Ala)
c.4326C>G
c.5368C>G (p.Pro1790Ala)
c.4822C>G (p.Pro1608Ala)
c.4549C>G (p.Pro1517Ala)
n.495C>G
n.282C>G
c.1055C>G
c.5095C>G (p.Pro1699Ala)
c.4276C>G (p.Pro1426Ala)
c.3730C>G (p.Pro1244Ala)
c.5644C>G (p.Pro1882Ala)
c.5371C>G (p.Pro1791Ala)
c.4825C>G (p.Pro1609Ala)
c.4552C>G (p.Pro1518Ala)
c.4003C>G (p.Pro1335Ala)
c.5917C>G (p.Pro1973Ala)
c.5641C>G (p.Pro1881Ala)
 gnomAD v4
9g.115040965G=CA1874116320TNCc.560C=
c.3457C= (p.Pro1153=)
c.4279C= (p.Pro1427=)
c.2311C= (p.Pro771=)
c.967C= (p.Pro323=)
c.4326C=
c.5368C= (p.Pro1790=)
c.4822C= (p.Pro1608=)
c.4549C= (p.Pro1517=)
n.495C=
n.282C=
c.1055C=
c.5095C= (p.Pro1699=)
c.4276C= (p.Pro1426=)
c.3730C= (p.Pro1244=)
c.5644C= (p.Pro1882=)
c.5371C= (p.Pro1791=)
c.4825C= (p.Pro1609=)
c.4552C= (p.Pro1518=)
c.4003C= (p.Pro1335=)
c.5917C= (p.Pro1973=)
c.5641C= (p.Pro1881=)
9g.115040965G>TCA5207678TNCc.560C>A
c.3457C>A (p.Pro1153Thr)
c.4279C>A (p.Pro1427Thr)
c.2311C>A (p.Pro771Thr)
c.967C>A (p.Pro323Thr)
c.4326C>A
c.5368C>A (p.Pro1790Thr)
c.4822C>A (p.Pro1608Thr)
c.4549C>A (p.Pro1517Thr)
n.495C>A
n.282C>A
c.1055C>A
c.5095C>A (p.Pro1699Thr)
c.4276C>A (p.Pro1426Thr)
c.3730C>A (p.Pro1244Thr)
c.5644C>A (p.Pro1882Thr)
c.5371C>A (p.Pro1791Thr)
c.4825C>A (p.Pro1609Thr)
c.4552C>A (p.Pro1518Thr)
c.4003C>A (p.Pro1335Thr)
c.5917C>A (p.Pro1973Thr)
c.5641C>A (p.Pro1881Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115040966T>ACA374629089TNCc.559A>T
c.3456A>T (p.Glu1152Asp)
c.4278A>T (p.Glu1426Asp)
c.2310A>T (p.Glu770Asp)
c.966A>T (p.Glu322Asp)
c.4325A>T
c.5367A>T (p.Glu1789Asp)
c.4821A>T (p.Glu1607Asp)
c.4548A>T (p.Glu1516Asp)
n.494A>T
n.281A>T
c.1054A>T
c.5094A>T (p.Glu1698Asp)
c.4275A>T (p.Glu1425Asp)
c.3729A>T (p.Glu1243Asp)
c.5643A>T (p.Glu1881Asp)
c.5370A>T (p.Glu1790Asp)
c.4824A>T (p.Glu1608Asp)
c.4551A>T (p.Glu1517Asp)
c.4002A>T (p.Glu1334Asp)
c.5916A>T (p.Glu1972Asp)
c.5640A>T (p.Glu1880Asp)
9g.115040966T>CCA466790968TNCc.559A>G
c.3456A>G (p.Glu1152=)
c.4278A>G (p.Glu1426=)
c.2310A>G (p.Glu770=)
c.966A>G (p.Glu322=)
c.4325A>G
c.5367A>G (p.Glu1789=)
c.4821A>G (p.Glu1607=)
c.4548A>G (p.Glu1516=)
n.494A>G
n.281A>G
c.1054A>G
c.5094A>G (p.Glu1698=)
c.4275A>G (p.Glu1425=)
c.3729A>G (p.Glu1243=)
c.5643A>G (p.Glu1881=)
c.5370A>G (p.Glu1790=)
c.4824A>G (p.Glu1608=)
c.4551A>G (p.Glu1517=)
c.4002A>G (p.Glu1334=)
c.5916A>G (p.Glu1972=)
c.5640A>G (p.Glu1880=)
9g.115040966T>GCA374629091TNCc.559A>C
c.3456A>C (p.Glu1152Asp)
c.4278A>C (p.Glu1426Asp)
c.2310A>C (p.Glu770Asp)
c.966A>C (p.Glu322Asp)
c.4325A>C
c.5367A>C (p.Glu1789Asp)
c.4821A>C (p.Glu1607Asp)
c.4548A>C (p.Glu1516Asp)
n.494A>C
n.281A>C
c.1054A>C
c.5094A>C (p.Glu1698Asp)
c.4275A>C (p.Glu1425Asp)
c.3729A>C (p.Glu1243Asp)
c.5643A>C (p.Glu1881Asp)
c.5370A>C (p.Glu1790Asp)
c.4824A>C (p.Glu1608Asp)
c.4551A>C (p.Glu1517Asp)
c.4002A>C (p.Glu1334Asp)
c.5916A>C (p.Glu1972Asp)
c.5640A>C (p.Glu1880Asp)
9g.115040967T>ACA374629097TNCc.558A>T
c.3455A>T (p.Glu1152Val)
c.4277A>T (p.Glu1426Val)
c.2309A>T (p.Glu770Val)
c.965A>T (p.Glu322Val)
c.4324A>T
c.5366A>T (p.Glu1789Val)
c.4820A>T (p.Glu1607Val)
c.4547A>T (p.Glu1516Val)
n.493A>T
n.280A>T
c.1053A>T
c.5093A>T (p.Glu1698Val)
c.4274A>T (p.Glu1425Val)
c.3728A>T (p.Glu1243Val)
c.5642A>T (p.Glu1881Val)
c.5369A>T (p.Glu1790Val)
c.4823A>T (p.Glu1608Val)
c.4550A>T (p.Glu1517Val)
c.4001A>T (p.Glu1334Val)
c.5915A>T (p.Glu1972Val)
c.5639A>T (p.Glu1880Val)
9g.115040967T>CCA374629095TNCc.558A>G
c.3455A>G (p.Glu1152Gly)
c.4277A>G (p.Glu1426Gly)
c.2309A>G (p.Glu770Gly)
c.965A>G (p.Glu322Gly)
c.4324A>G
c.5366A>G (p.Glu1789Gly)
c.4820A>G (p.Glu1607Gly)
c.4547A>G (p.Glu1516Gly)
n.493A>G
n.280A>G
c.1053A>G
c.5093A>G (p.Glu1698Gly)
c.4274A>G (p.Glu1425Gly)
c.3728A>G (p.Glu1243Gly)
c.5642A>G (p.Glu1881Gly)
c.5369A>G (p.Glu1790Gly)
c.4823A>G (p.Glu1608Gly)
c.4550A>G (p.Glu1517Gly)
c.4001A>G (p.Glu1334Gly)
c.5915A>G (p.Glu1972Gly)
c.5639A>G (p.Glu1880Gly)
9g.115040967T>GCA374629093TNCc.558A>C
c.3455A>C (p.Glu1152Ala)
c.4277A>C (p.Glu1426Ala)
c.2309A>C (p.Glu770Ala)
c.965A>C (p.Glu322Ala)
c.4324A>C
c.5366A>C (p.Glu1789Ala)
c.4820A>C (p.Glu1607Ala)
c.4547A>C (p.Glu1516Ala)
n.493A>C
n.280A>C
c.1053A>C
c.5093A>C (p.Glu1698Ala)
c.4274A>C (p.Glu1425Ala)
c.3728A>C (p.Glu1243Ala)
c.5642A>C (p.Glu1881Ala)
c.5369A>C (p.Glu1790Ala)
c.4823A>C (p.Glu1608Ala)
c.4550A>C (p.Glu1517Ala)
c.4001A>C (p.Glu1334Ala)
c.5915A>C (p.Glu1972Ala)
c.5639A>C (p.Glu1880Ala)
9g.115040968C>ACA374629100TNCc.557G>T
c.3454G>T (p.Glu1152Ter)
c.4276G>T (p.Glu1426Ter)
c.2308G>T (p.Glu770Ter)
c.964G>T (p.Glu322Ter)
c.4323G>T
c.5365G>T (p.Glu1789Ter)
c.4819G>T (p.Glu1607Ter)
c.4546G>T (p.Glu1516Ter)
n.492G>T
n.279G>T
c.1052G>T
c.5092G>T (p.Glu1698Ter)
c.4273G>T (p.Glu1425Ter)
c.3727G>T (p.Glu1243Ter)
c.5641G>T (p.Glu1881Ter)
c.5368G>T (p.Glu1790Ter)
c.4822G>T (p.Glu1608Ter)
c.4549G>T (p.Glu1517Ter)
c.4000G>T (p.Glu1334Ter)
c.5914G>T (p.Glu1972Ter)
c.5638G>T (p.Glu1880Ter)
9g.115040968C=CA1874116321TNCc.557G=
c.3454G= (p.Glu1152=)
c.4276G= (p.Glu1426=)
c.2308G= (p.Glu770=)
c.964G= (p.Glu322=)
c.4323G=
c.5365G= (p.Glu1789=)
c.4819G= (p.Glu1607=)
c.4546G= (p.Glu1516=)
n.492G=
n.279G=
c.1052G=
c.5092G= (p.Glu1698=)
c.4273G= (p.Glu1425=)
c.3727G= (p.Glu1243=)
c.5641G= (p.Glu1881=)
c.5368G= (p.Glu1790=)
c.4822G= (p.Glu1608=)
c.4549G= (p.Glu1517=)
c.4000G= (p.Glu1334=)
c.5914G= (p.Glu1972=)
c.5638G= (p.Glu1880=)
9g.115040968C>GCA374629104TNCc.557G>C
c.3454G>C (p.Glu1152Gln)
c.4276G>C (p.Glu1426Gln)
c.2308G>C (p.Glu770Gln)
c.964G>C (p.Glu322Gln)
c.4323G>C
c.5365G>C (p.Glu1789Gln)
c.4819G>C (p.Glu1607Gln)
c.4546G>C (p.Glu1516Gln)
n.492G>C
n.279G>C
c.1052G>C
c.5092G>C (p.Glu1698Gln)
c.4273G>C (p.Glu1425Gln)
c.3727G>C (p.Glu1243Gln)
c.5641G>C (p.Glu1881Gln)
c.5368G>C (p.Glu1790Gln)
c.4822G>C (p.Glu1608Gln)
c.4549G>C (p.Glu1517Gln)
c.4000G>C (p.Glu1334Gln)
c.5914G>C (p.Glu1972Gln)
c.5638G>C (p.Glu1880Gln)
 dbSNP
9g.115040968C>TCA374629102TNCc.557G>A
c.3454G>A (p.Glu1152Lys)
c.4276G>A (p.Glu1426Lys)
c.2308G>A (p.Glu770Lys)
c.964G>A (p.Glu322Lys)
c.4323G>A
c.5365G>A (p.Glu1789Lys)
c.4819G>A (p.Glu1607Lys)
c.4546G>A (p.Glu1516Lys)
n.492G>A
n.279G>A
c.1052G>A
c.5092G>A (p.Glu1698Lys)
c.4273G>A (p.Glu1425Lys)
c.3727G>A (p.Glu1243Lys)
c.5641G>A (p.Glu1881Lys)
c.5368G>A (p.Glu1790Lys)
c.4822G>A (p.Glu1608Lys)
c.4549G>A (p.Glu1517Lys)
c.4000G>A (p.Glu1334Lys)
c.5914G>A (p.Glu1972Lys)
c.5638G>A (p.Glu1880Lys)
9g.115040969A>CCA374629106TNCc.556T>G
c.3453T>G (p.Ser1151Arg)
c.4275T>G (p.Ser1425Arg)
c.2307T>G (p.Ser769Arg)
c.963T>G (p.Ser321Arg)
c.4322T>G
c.5364T>G (p.Ser1788Arg)
c.4818T>G (p.Ser1606Arg)
c.4545T>G (p.Ser1515Arg)
n.491T>G
n.278T>G
c.1051T>G
c.5091T>G (p.Ser1697Arg)
c.4272T>G (p.Ser1424Arg)
c.3726T>G (p.Ser1242Arg)
c.5640T>G (p.Ser1880Arg)
c.5367T>G (p.Ser1789Arg)
c.4821T>G (p.Ser1607Arg)
c.4548T>G (p.Ser1516Arg)
c.3999T>G (p.Ser1333Arg)
c.5913T>G (p.Ser1971Arg)
c.5637T>G (p.Ser1879Arg)
 gnomAD v4
9g.115040969A>GCA466790969TNCc.556T>C
c.3453T>C (p.Ser1151=)
c.4275T>C (p.Ser1425=)
c.2307T>C (p.Ser769=)
c.963T>C (p.Ser321=)
c.4322T>C
c.5364T>C (p.Ser1788=)
c.4818T>C (p.Ser1606=)
c.4545T>C (p.Ser1515=)
n.491T>C
n.278T>C
c.1051T>C
c.5091T>C (p.Ser1697=)
c.4272T>C (p.Ser1424=)
c.3726T>C (p.Ser1242=)
c.5640T>C (p.Ser1880=)
c.5367T>C (p.Ser1789=)
c.4821T>C (p.Ser1607=)
c.4548T>C (p.Ser1516=)
c.3999T>C (p.Ser1333=)
c.5913T>C (p.Ser1971=)
c.5637T>C (p.Ser1879=)
9g.115040969A>TCA374629108TNCc.556T>A
c.3453T>A (p.Ser1151Arg)
c.4275T>A (p.Ser1425Arg)
c.2307T>A (p.Ser769Arg)
c.963T>A (p.Ser321Arg)
c.4322T>A
c.5364T>A (p.Ser1788Arg)
c.4818T>A (p.Ser1606Arg)
c.4545T>A (p.Ser1515Arg)
n.491T>A
n.278T>A
c.1051T>A
c.5091T>A (p.Ser1697Arg)
c.4272T>A (p.Ser1424Arg)
c.3726T>A (p.Ser1242Arg)
c.5640T>A (p.Ser1880Arg)
c.5367T>A (p.Ser1789Arg)
c.4821T>A (p.Ser1607Arg)
c.4548T>A (p.Ser1516Arg)
c.3999T>A (p.Ser1333Arg)
c.5913T>A (p.Ser1971Arg)
c.5637T>A (p.Ser1879Arg)
9g.115040970C>ACA374629110TNCc.555G>T
c.3452G>T (p.Ser1151Ile)
c.4274G>T (p.Ser1425Ile)
c.2306G>T (p.Ser769Ile)
c.962G>T (p.Ser321Ile)
c.4321G>T
c.5363G>T (p.Ser1788Ile)
c.4817G>T (p.Ser1606Ile)
c.4544G>T (p.Ser1515Ile)
n.490G>T
n.277G>T
c.1050G>T
c.5090G>T (p.Ser1697Ile)
c.4271G>T (p.Ser1424Ile)
c.3725G>T (p.Ser1242Ile)
c.5639G>T (p.Ser1880Ile)
c.5366G>T (p.Ser1789Ile)
c.4820G>T (p.Ser1607Ile)
c.4547G>T (p.Ser1516Ile)
c.3998G>T (p.Ser1333Ile)
c.5912G>T (p.Ser1971Ile)
c.5636G>T (p.Ser1879Ile)
9g.115040970C>GCA374629112TNCc.555G>C
c.3452G>C (p.Ser1151Thr)
c.4274G>C (p.Ser1425Thr)
c.2306G>C (p.Ser769Thr)
c.962G>C (p.Ser321Thr)
c.4321G>C
c.5363G>C (p.Ser1788Thr)
c.4817G>C (p.Ser1606Thr)
c.4544G>C (p.Ser1515Thr)
n.490G>C
n.277G>C
c.1050G>C
c.5090G>C (p.Ser1697Thr)
c.4271G>C (p.Ser1424Thr)
c.3725G>C (p.Ser1242Thr)
c.5639G>C (p.Ser1880Thr)
c.5366G>C (p.Ser1789Thr)
c.4820G>C (p.Ser1607Thr)
c.4547G>C (p.Ser1516Thr)
c.3998G>C (p.Ser1333Thr)
c.5912G>C (p.Ser1971Thr)
c.5636G>C (p.Ser1879Thr)
9g.115040970C>TCA374629114TNCc.555G>A
c.3452G>A (p.Ser1151Asn)
c.4274G>A (p.Ser1425Asn)
c.2306G>A (p.Ser769Asn)
c.962G>A (p.Ser321Asn)
c.4321G>A
c.5363G>A (p.Ser1788Asn)
c.4817G>A (p.Ser1606Asn)
c.4544G>A (p.Ser1515Asn)
n.490G>A
n.277G>A
c.1050G>A
c.5090G>A (p.Ser1697Asn)
c.4271G>A (p.Ser1424Asn)
c.3725G>A (p.Ser1242Asn)
c.5639G>A (p.Ser1880Asn)
c.5366G>A (p.Ser1789Asn)
c.4820G>A (p.Ser1607Asn)
c.4547G>A (p.Ser1516Asn)
c.3998G>A (p.Ser1333Asn)
c.5912G>A (p.Ser1971Asn)
c.5636G>A (p.Ser1879Asn)
 gnomAD v4
9g.115040971T>ACA374629117TNCc.554A>T
c.3451A>T (p.Ser1151Cys)
c.4273A>T (p.Ser1425Cys)
c.2305A>T (p.Ser769Cys)
c.961A>T (p.Ser321Cys)
c.4320A>T
c.5362A>T (p.Ser1788Cys)
c.4816A>T (p.Ser1606Cys)
c.4543A>T (p.Ser1515Cys)
n.489A>T
n.276A>T
c.1049A>T
c.5089A>T (p.Ser1697Cys)
c.4270A>T (p.Ser1424Cys)
c.3724A>T (p.Ser1242Cys)
c.5638A>T (p.Ser1880Cys)
c.5365A>T (p.Ser1789Cys)
c.4819A>T (p.Ser1607Cys)
c.4546A>T (p.Ser1516Cys)
c.3997A>T (p.Ser1333Cys)
c.5911A>T (p.Ser1971Cys)
c.5635A>T (p.Ser1879Cys)
9g.115040971T>CCA374629118TNCc.554A>G
c.3451A>G (p.Ser1151Gly)
c.4273A>G (p.Ser1425Gly)
c.2305A>G (p.Ser769Gly)
c.961A>G (p.Ser321Gly)
c.4320A>G
c.5362A>G (p.Ser1788Gly)
c.4816A>G (p.Ser1606Gly)
c.4543A>G (p.Ser1515Gly)
n.489A>G
n.276A>G
c.1049A>G
c.5089A>G (p.Ser1697Gly)
c.4270A>G (p.Ser1424Gly)
c.3724A>G (p.Ser1242Gly)
c.5638A>G (p.Ser1880Gly)
c.5365A>G (p.Ser1789Gly)
c.4819A>G (p.Ser1607Gly)
c.4546A>G (p.Ser1516Gly)
c.3997A>G (p.Ser1333Gly)
c.5911A>G (p.Ser1971Gly)
c.5635A>G (p.Ser1879Gly)
9g.115040971T>GCA374629120TNCc.554A>C
c.3451A>C (p.Ser1151Arg)
c.4273A>C (p.Ser1425Arg)
c.2305A>C (p.Ser769Arg)
c.961A>C (p.Ser321Arg)
c.4320A>C
c.5362A>C (p.Ser1788Arg)
c.4816A>C (p.Ser1606Arg)
c.4543A>C (p.Ser1515Arg)
n.489A>C
n.276A>C
c.1049A>C
c.5089A>C (p.Ser1697Arg)
c.4270A>C (p.Ser1424Arg)
c.3724A>C (p.Ser1242Arg)
c.5638A>C (p.Ser1880Arg)
c.5365A>C (p.Ser1789Arg)
c.4819A>C (p.Ser1607Arg)
c.4546A>C (p.Ser1516Arg)
c.3997A>C (p.Ser1333Arg)
c.5911A>C (p.Ser1971Arg)
c.5635A>C (p.Ser1879Arg)
9g.115040972T>ACA374629122TNCc.553A>T
c.3450A>T (p.Glu1150Asp)
c.4272A>T (p.Glu1424Asp)
c.2304A>T (p.Glu768Asp)
c.960A>T (p.Glu320Asp)
c.4319A>T
c.5361A>T (p.Glu1787Asp)
c.4815A>T (p.Glu1605Asp)
c.4542A>T (p.Glu1514Asp)
n.488A>T
n.275A>T
c.1048A>T
c.5088A>T (p.Glu1696Asp)
c.4269A>T (p.Glu1423Asp)
c.3723A>T (p.Glu1241Asp)
c.5637A>T (p.Glu1879Asp)
c.5364A>T (p.Glu1788Asp)
c.4818A>T (p.Glu1606Asp)
c.4545A>T (p.Glu1515Asp)
c.3996A>T (p.Glu1332Asp)
c.5910A>T (p.Glu1970Asp)
c.5634A>T (p.Glu1878Asp)
9g.115040972T>CCA466790970TNCc.553A>G
c.3450A>G (p.Glu1150=)
c.4272A>G (p.Glu1424=)
c.2304A>G (p.Glu768=)
c.960A>G (p.Glu320=)
c.4319A>G
c.5361A>G (p.Glu1787=)
c.4815A>G (p.Glu1605=)
c.4542A>G (p.Glu1514=)
n.488A>G
n.275A>G
c.1048A>G
c.5088A>G (p.Glu1696=)
c.4269A>G (p.Glu1423=)
c.3723A>G (p.Glu1241=)
c.5637A>G (p.Glu1879=)
c.5364A>G (p.Glu1788=)
c.4818A>G (p.Glu1606=)
c.4545A>G (p.Glu1515=)
c.3996A>G (p.Glu1332=)
c.5910A>G (p.Glu1970=)
c.5634A>G (p.Glu1878=)
9g.115040972T>GCA374629124TNCc.553A>C
c.3450A>C (p.Glu1150Asp)
c.4272A>C (p.Glu1424Asp)
c.2304A>C (p.Glu768Asp)
c.960A>C (p.Glu320Asp)
c.4319A>C
c.5361A>C (p.Glu1787Asp)
c.4815A>C (p.Glu1605Asp)
c.4542A>C (p.Glu1514Asp)
n.488A>C
n.275A>C
c.1048A>C
c.5088A>C (p.Glu1696Asp)
c.4269A>C (p.Glu1423Asp)
c.3723A>C (p.Glu1241Asp)
c.5637A>C (p.Glu1879Asp)
c.5364A>C (p.Glu1788Asp)
c.4818A>C (p.Glu1606Asp)
c.4545A>C (p.Glu1515Asp)
c.3996A>C (p.Glu1332Asp)
c.5910A>C (p.Glu1970Asp)
c.5634A>C (p.Glu1878Asp)
9g.115040973T>ACA374629126TNCc.552A>T
c.3449A>T (p.Glu1150Val)
c.4271A>T (p.Glu1424Val)
c.2303A>T (p.Glu768Val)
c.959A>T (p.Glu320Val)
c.4318A>T
c.5360A>T (p.Glu1787Val)
c.4814A>T (p.Glu1605Val)
c.4541A>T (p.Glu1514Val)
n.487A>T
n.274A>T
c.1047A>T
c.5087A>T (p.Glu1696Val)
c.4268A>T (p.Glu1423Val)
c.3722A>T (p.Glu1241Val)
c.5636A>T (p.Glu1879Val)
c.5363A>T (p.Glu1788Val)
c.4817A>T (p.Glu1606Val)
c.4544A>T (p.Glu1515Val)
c.3995A>T (p.Glu1332Val)
c.5909A>T (p.Glu1970Val)
c.5633A>T (p.Glu1878Val)
9g.115040973T>CCA5207679TNCc.552A>G
c.3449A>G (p.Glu1150Gly)
c.4271A>G (p.Glu1424Gly)
c.2303A>G (p.Glu768Gly)
c.959A>G (p.Glu320Gly)
c.4318A>G
c.5360A>G (p.Glu1787Gly)
c.4814A>G (p.Glu1605Gly)
c.4541A>G (p.Glu1514Gly)
n.487A>G
n.274A>G
c.1047A>G
c.5087A>G (p.Glu1696Gly)
c.4268A>G (p.Glu1423Gly)
c.3722A>G (p.Glu1241Gly)
c.5636A>G (p.Glu1879Gly)
c.5363A>G (p.Glu1788Gly)
c.4817A>G (p.Glu1606Gly)
c.4544A>G (p.Glu1515Gly)
c.3995A>G (p.Glu1332Gly)
c.5909A>G (p.Glu1970Gly)
c.5633A>G (p.Glu1878Gly)
 dbSNP ExAC gnomAD v4
9g.115040973T>GCA374629129TNCc.552A>C
c.3449A>C (p.Glu1150Ala)
c.4271A>C (p.Glu1424Ala)
c.2303A>C (p.Glu768Ala)
c.959A>C (p.Glu320Ala)
c.4318A>C
c.5360A>C (p.Glu1787Ala)
c.4814A>C (p.Glu1605Ala)
c.4541A>C (p.Glu1514Ala)
n.487A>C
n.274A>C
c.1047A>C
c.5087A>C (p.Glu1696Ala)
c.4268A>C (p.Glu1423Ala)
c.3722A>C (p.Glu1241Ala)
c.5636A>C (p.Glu1879Ala)
c.5363A>C (p.Glu1788Ala)
c.4817A>C (p.Glu1606Ala)
c.4544A>C (p.Glu1515Ala)
c.3995A>C (p.Glu1332Ala)
c.5909A>C (p.Glu1970Ala)
c.5633A>C (p.Glu1878Ala)
9g.115040973T=CA1874116322TNCc.552A=
c.3449A= (p.Glu1150=)
c.4271A= (p.Glu1424=)
c.2303A= (p.Glu768=)
c.959A= (p.Glu320=)
c.4318A=
c.5360A= (p.Glu1787=)
c.4814A= (p.Glu1605=)
c.4541A= (p.Glu1514=)
n.487A=
n.274A=
c.1047A=
c.5087A= (p.Glu1696=)
c.4268A= (p.Glu1423=)
c.3722A= (p.Glu1241=)
c.5636A= (p.Glu1879=)
c.5363A= (p.Glu1788=)
c.4817A= (p.Glu1606=)
c.4544A= (p.Glu1515=)
c.3995A= (p.Glu1332=)
c.5909A= (p.Glu1970=)
c.5633A= (p.Glu1878=)
9g.115040974C>ACA374629133TNCc.551G>T
c.3448G>T (p.Glu1150Ter)
c.4270G>T (p.Glu1424Ter)
c.2302G>T (p.Glu768Ter)
c.958G>T (p.Glu320Ter)
c.4317G>T
c.5359G>T (p.Glu1787Ter)
c.4813G>T (p.Glu1605Ter)
c.4540G>T (p.Glu1514Ter)
n.486G>T
n.273G>T
c.1046G>T
c.5086G>T (p.Glu1696Ter)
c.4267G>T (p.Glu1423Ter)
c.3721G>T (p.Glu1241Ter)
c.5635G>T (p.Glu1879Ter)
c.5362G>T (p.Glu1788Ter)
c.4816G>T (p.Glu1606Ter)
c.4543G>T (p.Glu1515Ter)
c.3994G>T (p.Glu1332Ter)
c.5908G>T (p.Glu1970Ter)
c.5632G>T (p.Glu1878Ter)
9g.115040974C=CA1874116323TNCc.551G=
c.3448G= (p.Glu1150=)
c.4270G= (p.Glu1424=)
c.2302G= (p.Glu768=)
c.958G= (p.Glu320=)
c.4317G=
c.5359G= (p.Glu1787=)
c.4813G= (p.Glu1605=)
c.4540G= (p.Glu1514=)
n.486G=
n.273G=
c.1046G=
c.5086G= (p.Glu1696=)
c.4267G= (p.Glu1423=)
c.3721G= (p.Glu1241=)
c.5635G= (p.Glu1879=)
c.5362G= (p.Glu1788=)
c.4816G= (p.Glu1606=)
c.4543G= (p.Glu1515=)
c.3994G= (p.Glu1332=)
c.5908G= (p.Glu1970=)
c.5632G= (p.Glu1878=)
9g.115040974C>GCA374629131TNCc.551G>C
c.3448G>C (p.Glu1150Gln)
c.4270G>C (p.Glu1424Gln)
c.2302G>C (p.Glu768Gln)
c.958G>C (p.Glu320Gln)
c.4317G>C
c.5359G>C (p.Glu1787Gln)
c.4813G>C (p.Glu1605Gln)
c.4540G>C (p.Glu1514Gln)
n.486G>C
n.273G>C
c.1046G>C
c.5086G>C (p.Glu1696Gln)
c.4267G>C (p.Glu1423Gln)
c.3721G>C (p.Glu1241Gln)
c.5635G>C (p.Glu1879Gln)
c.5362G>C (p.Glu1788Gln)
c.4816G>C (p.Glu1606Gln)
c.4543G>C (p.Glu1515Gln)
c.3994G>C (p.Glu1332Gln)
c.5908G>C (p.Glu1970Gln)
c.5632G>C (p.Glu1878Gln)
9g.115040974C>TCA198685240TNCc.551G>A
c.3448G>A (p.Glu1150Lys)
c.4270G>A (p.Glu1424Lys)
c.2302G>A (p.Glu768Lys)
c.958G>A (p.Glu320Lys)
c.4317G>A
c.5359G>A (p.Glu1787Lys)
c.4813G>A (p.Glu1605Lys)
c.4540G>A (p.Glu1514Lys)
n.486G>A
n.273G>A
c.1046G>A
c.5086G>A (p.Glu1696Lys)
c.4267G>A (p.Glu1423Lys)
c.3721G>A (p.Glu1241Lys)
c.5635G>A (p.Glu1879Lys)
c.5362G>A (p.Glu1788Lys)
c.4816G>A (p.Glu1606Lys)
c.4543G>A (p.Glu1515Lys)
c.3994G>A (p.Glu1332Lys)
c.5908G>A (p.Glu1970Lys)
c.5632G>A (p.Glu1878Lys)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
9g.115040975C>ACA374629135TNCc.550G>T
c.3447G>T (p.Glu1149Asp)
c.4269G>T (p.Glu1423Asp)
c.2301G>T (p.Glu767Asp)
c.957G>T (p.Glu319Asp)
c.4316G>T
c.5358G>T (p.Glu1786Asp)
c.4812G>T (p.Glu1604Asp)
c.4539G>T (p.Glu1513Asp)
n.485G>T
n.272G>T
c.1045G>T
c.5085G>T (p.Glu1695Asp)
c.4266G>T (p.Glu1422Asp)
c.3720G>T (p.Glu1240Asp)
c.5634G>T (p.Glu1878Asp)
c.5361G>T (p.Glu1787Asp)
c.4815G>T (p.Glu1605Asp)
c.4542G>T (p.Glu1514Asp)
c.3993G>T (p.Glu1331Asp)
c.5907G>T (p.Glu1969Asp)
c.5631G>T (p.Glu1877Asp)
9g.115040975C>GCA374629137TNCc.550G>C
c.3447G>C (p.Glu1149Asp)
c.4269G>C (p.Glu1423Asp)
c.2301G>C (p.Glu767Asp)
c.957G>C (p.Glu319Asp)
c.4316G>C
c.5358G>C (p.Glu1786Asp)
c.4812G>C (p.Glu1604Asp)
c.4539G>C (p.Glu1513Asp)
n.485G>C
n.272G>C
c.1045G>C
c.5085G>C (p.Glu1695Asp)
c.4266G>C (p.Glu1422Asp)
c.3720G>C (p.Glu1240Asp)
c.5634G>C (p.Glu1878Asp)
c.5361G>C (p.Glu1787Asp)
c.4815G>C (p.Glu1605Asp)
c.4542G>C (p.Glu1514Asp)
c.3993G>C (p.Glu1331Asp)
c.5907G>C (p.Glu1969Asp)
c.5631G>C (p.Glu1877Asp)
9g.115040975C>TCA466790971TNCc.550G>A
c.3447G>A (p.Glu1149=)
c.4269G>A (p.Glu1423=)
c.2301G>A (p.Glu767=)
c.957G>A (p.Glu319=)
c.4316G>A
c.5358G>A (p.Glu1786=)
c.4812G>A (p.Glu1604=)
c.4539G>A (p.Glu1513=)
n.485G>A
n.272G>A
c.1045G>A
c.5085G>A (p.Glu1695=)
c.4266G>A (p.Glu1422=)
c.3720G>A (p.Glu1240=)
c.5634G>A (p.Glu1878=)
c.5361G>A (p.Glu1787=)
c.4815G>A (p.Glu1605=)
c.4542G>A (p.Glu1514=)
c.3993G>A (p.Glu1331=)
c.5907G>A (p.Glu1969=)
c.5631G>A (p.Glu1877=)
9g.115040976T>ACA374629139TNCc.549A>T
c.3446A>T (p.Glu1149Val)
c.4268A>T (p.Glu1423Val)
c.2300A>T (p.Glu767Val)
c.956A>T (p.Glu319Val)
c.4315A>T
c.5357A>T (p.Glu1786Val)
c.4811A>T (p.Glu1604Val)
c.4538A>T (p.Glu1513Val)
n.484A>T
n.271A>T
c.1044A>T
c.5084A>T (p.Glu1695Val)
c.4265A>T (p.Glu1422Val)
c.3719A>T (p.Glu1240Val)
c.5633A>T (p.Glu1878Val)
c.5360A>T (p.Glu1787Val)
c.4814A>T (p.Glu1605Val)
c.4541A>T (p.Glu1514Val)
c.3992A>T (p.Glu1331Val)
c.5906A>T (p.Glu1969Val)
c.5630A>T (p.Glu1877Val)
9g.115040976T>CCA374629141TNCc.549A>G
c.3446A>G (p.Glu1149Gly)
c.4268A>G (p.Glu1423Gly)
c.2300A>G (p.Glu767Gly)
c.956A>G (p.Glu319Gly)
c.4315A>G
c.5357A>G (p.Glu1786Gly)
c.4811A>G (p.Glu1604Gly)
c.4538A>G (p.Glu1513Gly)
n.484A>G
n.271A>G
c.1044A>G
c.5084A>G (p.Glu1695Gly)
c.4265A>G (p.Glu1422Gly)
c.3719A>G (p.Glu1240Gly)
c.5633A>G (p.Glu1878Gly)
c.5360A>G (p.Glu1787Gly)
c.4814A>G (p.Glu1605Gly)
c.4541A>G (p.Glu1514Gly)
c.3992A>G (p.Glu1331Gly)
c.5906A>G (p.Glu1969Gly)
c.5630A>G (p.Glu1877Gly)
9g.115040976T>GCA374629142TNCc.549A>C
c.3446A>C (p.Glu1149Ala)
c.4268A>C (p.Glu1423Ala)
c.2300A>C (p.Glu767Ala)
c.956A>C (p.Glu319Ala)
c.4315A>C
c.5357A>C (p.Glu1786Ala)
c.4811A>C (p.Glu1604Ala)
c.4538A>C (p.Glu1513Ala)
n.484A>C
n.271A>C
c.1044A>C
c.5084A>C (p.Glu1695Ala)
c.4265A>C (p.Glu1422Ala)
c.3719A>C (p.Glu1240Ala)
c.5633A>C (p.Glu1878Ala)
c.5360A>C (p.Glu1787Ala)
c.4814A>C (p.Glu1605Ala)
c.4541A>C (p.Glu1514Ala)
c.3992A>C (p.Glu1331Ala)
c.5906A>C (p.Glu1969Ala)
c.5630A>C (p.Glu1877Ala)
9g.115040977C>ACA374629144TNCc.548G>T
c.3445G>T (p.Glu1149Ter)
c.4267G>T (p.Glu1423Ter)
c.2299G>T (p.Glu767Ter)
c.955G>T (p.Glu319Ter)
c.4314G>T
c.5356G>T (p.Glu1786Ter)
c.4810G>T (p.Glu1604Ter)
c.4537G>T (p.Glu1513Ter)
n.483G>T
n.270G>T
c.1043G>T
c.5083G>T (p.Glu1695Ter)
c.4264G>T (p.Glu1422Ter)
c.3718G>T (p.Glu1240Ter)
c.5632G>T (p.Glu1878Ter)
c.5359G>T (p.Glu1787Ter)
c.4813G>T (p.Glu1605Ter)
c.4540G>T (p.Glu1514Ter)
c.3991G>T (p.Glu1331Ter)
c.5905G>T (p.Glu1969Ter)
c.5629G>T (p.Glu1877Ter)
9g.115040977C=CA1874116324TNCc.548G=
c.3445G= (p.Glu1149=)
c.4267G= (p.Glu1423=)
c.2299G= (p.Glu767=)
c.955G= (p.Glu319=)
c.4314G=
c.5356G= (p.Glu1786=)
c.4810G= (p.Glu1604=)
c.4537G= (p.Glu1513=)
n.483G=
n.270G=
c.1043G=
c.5083G= (p.Glu1695=)
c.4264G= (p.Glu1422=)
c.3718G= (p.Glu1240=)
c.5632G= (p.Glu1878=)
c.5359G= (p.Glu1787=)
c.4813G= (p.Glu1605=)
c.4540G= (p.Glu1514=)
c.3991G= (p.Glu1331=)
c.5905G= (p.Glu1969=)
c.5629G= (p.Glu1877=)
9g.115040977C>GCA374629146TNCc.548G>C
c.3445G>C (p.Glu1149Gln)
c.4267G>C (p.Glu1423Gln)
c.2299G>C (p.Glu767Gln)
c.955G>C (p.Glu319Gln)
c.4314G>C
c.5356G>C (p.Glu1786Gln)
c.4810G>C (p.Glu1604Gln)
c.4537G>C (p.Glu1513Gln)
n.483G>C
n.270G>C
c.1043G>C
c.5083G>C (p.Glu1695Gln)
c.4264G>C (p.Glu1422Gln)
c.3718G>C (p.Glu1240Gln)
c.5632G>C (p.Glu1878Gln)
c.5359G>C (p.Glu1787Gln)
c.4813G>C (p.Glu1605Gln)
c.4540G>C (p.Glu1514Gln)
c.3991G>C (p.Glu1331Gln)
c.5905G>C (p.Glu1969Gln)
c.5629G>C (p.Glu1877Gln)
 dbSNP gnomAD v4
9g.115040977C>TCA374629148TNCc.548G>A
c.3445G>A (p.Glu1149Lys)
c.4267G>A (p.Glu1423Lys)
c.2299G>A (p.Glu767Lys)
c.955G>A (p.Glu319Lys)
c.4314G>A
c.5356G>A (p.Glu1786Lys)
c.4810G>A (p.Glu1604Lys)
c.4537G>A (p.Glu1513Lys)
n.483G>A
n.270G>A
c.1043G>A
c.5083G>A (p.Glu1695Lys)
c.4264G>A (p.Glu1422Lys)
c.3718G>A (p.Glu1240Lys)
c.5632G>A (p.Glu1878Lys)
c.5359G>A (p.Glu1787Lys)
c.4813G>A (p.Glu1605Lys)
c.4540G>A (p.Glu1514Lys)
c.3991G>A (p.Glu1331Lys)
c.5905G>A (p.Glu1969Lys)
c.5629G>A (p.Glu1877Lys)
9g.115040978A=CA1874116325TNCc.547T=
c.3444T= (p.Phe1148=)
c.4266T= (p.Phe1422=)
c.2298T= (p.Phe766=)
c.954T= (p.Phe318=)
c.4313T=
c.5355T= (p.Phe1785=)
c.4809T= (p.Phe1603=)
c.4536T= (p.Phe1512=)
n.482T=
n.269T=
c.1042T=
c.5082T= (p.Phe1694=)
c.4263T= (p.Phe1421=)
c.3717T= (p.Phe1239=)
c.5631T= (p.Phe1877=)
c.5358T= (p.Phe1786=)
c.4812T= (p.Phe1604=)
c.4539T= (p.Phe1513=)
c.3990T= (p.Phe1330=)
c.5904T= (p.Phe1968=)
c.5628T= (p.Phe1876=)
9g.115040978A>CCA5207680TNCc.547T>G
c.3444T>G (p.Phe1148Leu)
c.4266T>G (p.Phe1422Leu)
c.2298T>G (p.Phe766Leu)
c.954T>G (p.Phe318Leu)
c.4313T>G
c.5355T>G (p.Phe1785Leu)
c.4809T>G (p.Phe1603Leu)
c.4536T>G (p.Phe1512Leu)
n.482T>G
n.269T>G
c.1042T>G
c.5082T>G (p.Phe1694Leu)
c.4263T>G (p.Phe1421Leu)
c.3717T>G (p.Phe1239Leu)
c.5631T>G (p.Phe1877Leu)
c.5358T>G (p.Phe1786Leu)
c.4812T>G (p.Phe1604Leu)
c.4539T>G (p.Phe1513Leu)
c.3990T>G (p.Phe1330Leu)
c.5904T>G (p.Phe1968Leu)
c.5628T>G (p.Phe1876Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115040978A>GCA466790972TNCc.547T>C
c.3444T>C (p.Phe1148=)
c.4266T>C (p.Phe1422=)
c.2298T>C (p.Phe766=)
c.954T>C (p.Phe318=)
c.4313T>C
c.5355T>C (p.Phe1785=)
c.4809T>C (p.Phe1603=)
c.4536T>C (p.Phe1512=)
n.482T>C
n.269T>C
c.1042T>C
c.5082T>C (p.Phe1694=)
c.4263T>C (p.Phe1421=)
c.3717T>C (p.Phe1239=)
c.5631T>C (p.Phe1877=)
c.5358T>C (p.Phe1786=)
c.4812T>C (p.Phe1604=)
c.4539T>C (p.Phe1513=)
c.3990T>C (p.Phe1330=)
c.5904T>C (p.Phe1968=)
c.5628T>C (p.Phe1876=)
9g.115040978A>TCA374629151TNCc.547T>A
c.3444T>A (p.Phe1148Leu)
c.4266T>A (p.Phe1422Leu)
c.2298T>A (p.Phe766Leu)
c.954T>A (p.Phe318Leu)
c.4313T>A
c.5355T>A (p.Phe1785Leu)
c.4809T>A (p.Phe1603Leu)
c.4536T>A (p.Phe1512Leu)
n.482T>A
n.269T>A
c.1042T>A
c.5082T>A (p.Phe1694Leu)
c.4263T>A (p.Phe1421Leu)
c.3717T>A (p.Phe1239Leu)
c.5631T>A (p.Phe1877Leu)
c.5358T>A (p.Phe1786Leu)
c.4812T>A (p.Phe1604Leu)
c.4539T>A (p.Phe1513Leu)
c.3990T>A (p.Phe1330Leu)
c.5904T>A (p.Phe1968Leu)
c.5628T>A (p.Phe1876Leu)
9g.115040979A>CCA374629156TNCc.546T>G
c.3443T>G (p.Phe1148Cys)
c.4265T>G (p.Phe1422Cys)
c.2297T>G (p.Phe766Cys)
c.953T>G (p.Phe318Cys)
c.4312T>G
c.5354T>G (p.Phe1785Cys)
c.4808T>G (p.Phe1603Cys)
c.4535T>G (p.Phe1512Cys)
n.481T>G
n.268T>G
c.1041T>G
c.5081T>G (p.Phe1694Cys)
c.4262T>G (p.Phe1421Cys)
c.3716T>G (p.Phe1239Cys)
c.5630T>G (p.Phe1877Cys)
c.5357T>G (p.Phe1786Cys)
c.4811T>G (p.Phe1604Cys)
c.4538T>G (p.Phe1513Cys)
c.3989T>G (p.Phe1330Cys)
c.5903T>G (p.Phe1968Cys)
c.5627T>G (p.Phe1876Cys)
9g.115040979A>GCA374629158TNCc.546T>C
c.3443T>C (p.Phe1148Ser)
c.4265T>C (p.Phe1422Ser)
c.2297T>C (p.Phe766Ser)
c.953T>C (p.Phe318Ser)
c.4312T>C
c.5354T>C (p.Phe1785Ser)
c.4808T>C (p.Phe1603Ser)
c.4535T>C (p.Phe1512Ser)
n.481T>C
n.268T>C
c.1041T>C
c.5081T>C (p.Phe1694Ser)
c.4262T>C (p.Phe1421Ser)
c.3716T>C (p.Phe1239Ser)
c.5630T>C (p.Phe1877Ser)
c.5357T>C (p.Phe1786Ser)
c.4811T>C (p.Phe1604Ser)
c.4538T>C (p.Phe1513Ser)
c.3989T>C (p.Phe1330Ser)
c.5903T>C (p.Phe1968Ser)
c.5627T>C (p.Phe1876Ser)
9g.115040979A>TCA374629154TNCc.546T>A
c.3443T>A (p.Phe1148Tyr)
c.4265T>A (p.Phe1422Tyr)
c.2297T>A (p.Phe766Tyr)
c.953T>A (p.Phe318Tyr)
c.4312T>A
c.5354T>A (p.Phe1785Tyr)
c.4808T>A (p.Phe1603Tyr)
c.4535T>A (p.Phe1512Tyr)
n.481T>A
n.268T>A
c.1041T>A
c.5081T>A (p.Phe1694Tyr)
c.4262T>A (p.Phe1421Tyr)
c.3716T>A (p.Phe1239Tyr)
c.5630T>A (p.Phe1877Tyr)
c.5357T>A (p.Phe1786Tyr)
c.4811T>A (p.Phe1604Tyr)
c.4538T>A (p.Phe1513Tyr)
c.3989T>A (p.Phe1330Tyr)
c.5903T>A (p.Phe1968Tyr)
c.5627T>A (p.Phe1876Tyr)
9g.115040980A>CCA374629160TNCc.545T>G
c.3442T>G (p.Phe1148Val)
c.4264T>G (p.Phe1422Val)
c.2296T>G (p.Phe766Val)
c.952T>G (p.Phe318Val)
c.4311T>G
c.5353T>G (p.Phe1785Val)
c.4807T>G (p.Phe1603Val)
c.4534T>G (p.Phe1512Val)
n.480T>G
n.267T>G
c.1040T>G
c.5080T>G (p.Phe1694Val)
c.4261T>G (p.Phe1421Val)
c.3715T>G (p.Phe1239Val)
c.5629T>G (p.Phe1877Val)
c.5356T>G (p.Phe1786Val)
c.4810T>G (p.Phe1604Val)
c.4537T>G (p.Phe1513Val)
c.3988T>G (p.Phe1330Val)
c.5902T>G (p.Phe1968Val)
c.5626T>G (p.Phe1876Val)
9g.115040980A>GCA374629162TNCc.545T>C
c.3442T>C (p.Phe1148Leu)
c.4264T>C (p.Phe1422Leu)
c.2296T>C (p.Phe766Leu)
c.952T>C (p.Phe318Leu)
c.4311T>C
c.5353T>C (p.Phe1785Leu)
c.4807T>C (p.Phe1603Leu)
c.4534T>C (p.Phe1512Leu)
n.480T>C
n.267T>C
c.1040T>C
c.5080T>C (p.Phe1694Leu)
c.4261T>C (p.Phe1421Leu)
c.3715T>C (p.Phe1239Leu)
c.5629T>C (p.Phe1877Leu)
c.5356T>C (p.Phe1786Leu)
c.4810T>C (p.Phe1604Leu)
c.4537T>C (p.Phe1513Leu)
c.3988T>C (p.Phe1330Leu)
c.5902T>C (p.Phe1968Leu)
c.5626T>C (p.Phe1876Leu)
9g.115040980A>TCA374629164TNCc.545T>A
c.3442T>A (p.Phe1148Ile)
c.4264T>A (p.Phe1422Ile)
c.2296T>A (p.Phe766Ile)
c.952T>A (p.Phe318Ile)
c.4311T>A
c.5353T>A (p.Phe1785Ile)
c.4807T>A (p.Phe1603Ile)
c.4534T>A (p.Phe1512Ile)
n.480T>A
n.267T>A
c.1040T>A
c.5080T>A (p.Phe1694Ile)
c.4261T>A (p.Phe1421Ile)
c.3715T>A (p.Phe1239Ile)
c.5629T>A (p.Phe1877Ile)
c.5356T>A (p.Phe1786Ile)
c.4810T>A (p.Phe1604Ile)
c.4537T>A (p.Phe1513Ile)
c.3988T>A (p.Phe1330Ile)
c.5902T>A (p.Phe1968Ile)
c.5626T>A (p.Phe1876Ile)
 gnomAD v4
9g.115040981G>ACA466790973TNCc.544C>T
c.3441C>T (p.Gly1147=)
c.4263C>T (p.Gly1421=)
c.2295C>T (p.Gly765=)
c.951C>T (p.Gly317=)
c.4310C>T
c.5352C>T (p.Gly1784=)
c.4806C>T (p.Gly1602=)
c.4533C>T (p.Gly1511=)
n.479C>T
n.266C>T
c.1039C>T
c.5079C>T (p.Gly1693=)
c.4260C>T (p.Gly1420=)
c.3714C>T (p.Gly1238=)
c.5628C>T (p.Gly1876=)
c.5355C>T (p.Gly1785=)
c.4809C>T (p.Gly1603=)
c.4536C>T (p.Gly1512=)
c.3987C>T (p.Gly1329=)
c.5901C>T (p.Gly1967=)
c.5625C>T (p.Gly1875=)
9g.115040981G>CCA466790974TNCc.544C>G
c.3441C>G (p.Gly1147=)
c.4263C>G (p.Gly1421=)
c.2295C>G (p.Gly765=)
c.951C>G (p.Gly317=)
c.4310C>G
c.5352C>G (p.Gly1784=)
c.4806C>G (p.Gly1602=)
c.4533C>G (p.Gly1511=)
n.479C>G
n.266C>G
c.1039C>G
c.5079C>G (p.Gly1693=)
c.4260C>G (p.Gly1420=)
c.3714C>G (p.Gly1238=)
c.5628C>G (p.Gly1876=)
c.5355C>G (p.Gly1785=)
c.4809C>G (p.Gly1603=)
c.4536C>G (p.Gly1512=)
c.3987C>G (p.Gly1329=)
c.5901C>G (p.Gly1967=)
c.5625C>G (p.Gly1875=)
9g.115040981G=CA1874116326TNCc.544C=
c.3441C= (p.Gly1147=)
c.4263C= (p.Gly1421=)
c.2295C= (p.Gly765=)
c.951C= (p.Gly317=)
c.4310C=
c.5352C= (p.Gly1784=)
c.4806C= (p.Gly1602=)
c.4533C= (p.Gly1511=)
n.479C=
n.266C=
c.1039C=
c.5079C= (p.Gly1693=)
c.4260C= (p.Gly1420=)
c.3714C= (p.Gly1238=)
c.5628C= (p.Gly1876=)
c.5355C= (p.Gly1785=)
c.4809C= (p.Gly1603=)
c.4536C= (p.Gly1512=)
c.3987C= (p.Gly1329=)
c.5901C= (p.Gly1967=)
c.5625C= (p.Gly1875=)
9g.115040981G>TCA5207681TNCc.544C>A
c.3441C>A (p.Gly1147=)
c.4263C>A (p.Gly1421=)
c.2295C>A (p.Gly765=)
c.951C>A (p.Gly317=)
c.4310C>A
c.5352C>A (p.Gly1784=)
c.4806C>A (p.Gly1602=)
c.4533C>A (p.Gly1511=)
n.479C>A
n.266C>A
c.1039C>A
c.5079C>A (p.Gly1693=)
c.4260C>A (p.Gly1420=)
c.3714C>A (p.Gly1238=)
c.5628C>A (p.Gly1876=)
c.5355C>A (p.Gly1785=)
c.4809C>A (p.Gly1603=)
c.4536C>A (p.Gly1512=)
c.3987C>A (p.Gly1329=)
c.5901C>A (p.Gly1967=)
c.5625C>A (p.Gly1875=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115040982C>ACA374629170TNCc.543G>T
c.3440G>T (p.Gly1147Val)
c.4262G>T (p.Gly1421Val)
c.2294G>T (p.Gly765Val)
c.950G>T (p.Gly317Val)
c.4309G>T
c.5351G>T (p.Gly1784Val)
c.4805G>T (p.Gly1602Val)
c.4532G>T (p.Gly1511Val)
n.478G>T
n.265G>T
c.1038G>T
c.5078G>T (p.Gly1693Val)
c.4259G>T (p.Gly1420Val)
c.3713G>T (p.Gly1238Val)
c.5627G>T (p.Gly1876Val)
c.5354G>T (p.Gly1785Val)
c.4808G>T (p.Gly1603Val)
c.4535G>T (p.Gly1512Val)
c.3986G>T (p.Gly1329Val)
c.5900G>T (p.Gly1967Val)
c.5624G>T (p.Gly1875Val)
 dbSNP
9g.115040982C=CA1874116327TNCc.543G=
c.3440G= (p.Gly1147=)
c.4262G= (p.Gly1421=)
c.2294G= (p.Gly765=)
c.950G= (p.Gly317=)
c.4309G=
c.5351G= (p.Gly1784=)
c.4805G= (p.Gly1602=)
c.4532G= (p.Gly1511=)
n.478G=
n.265G=
c.1038G=
c.5078G= (p.Gly1693=)
c.4259G= (p.Gly1420=)
c.3713G= (p.Gly1238=)
c.5627G= (p.Gly1876=)
c.5354G= (p.Gly1785=)
c.4808G= (p.Gly1603=)
c.4535G= (p.Gly1512=)
c.3986G= (p.Gly1329=)
c.5900G= (p.Gly1967=)
c.5624G= (p.Gly1875=)
9g.115040982C>GCA374629168TNCc.543G>C
c.3440G>C (p.Gly1147Ala)
c.4262G>C (p.Gly1421Ala)
c.2294G>C (p.Gly765Ala)
c.950G>C (p.Gly317Ala)
c.4309G>C
c.5351G>C (p.Gly1784Ala)
c.4805G>C (p.Gly1602Ala)
c.4532G>C (p.Gly1511Ala)
n.478G>C
n.265G>C
c.1038G>C
c.5078G>C (p.Gly1693Ala)
c.4259G>C (p.Gly1420Ala)
c.3713G>C (p.Gly1238Ala)
c.5627G>C (p.Gly1876Ala)
c.5354G>C (p.Gly1785Ala)
c.4808G>C (p.Gly1603Ala)
c.4535G>C (p.Gly1512Ala)
c.3986G>C (p.Gly1329Ala)
c.5900G>C (p.Gly1967Ala)
c.5624G>C (p.Gly1875Ala)
9g.115040982C>TCA5207682TNCc.543G>A
c.3440G>A (p.Gly1147Asp)
c.4262G>A (p.Gly1421Asp)
c.2294G>A (p.Gly765Asp)
c.950G>A (p.Gly317Asp)
c.4309G>A
c.5351G>A (p.Gly1784Asp)
c.4805G>A (p.Gly1602Asp)
c.4532G>A (p.Gly1511Asp)
n.478G>A
n.265G>A
c.1038G>A
c.5078G>A (p.Gly1693Asp)
c.4259G>A (p.Gly1420Asp)
c.3713G>A (p.Gly1238Asp)
c.5627G>A (p.Gly1876Asp)
c.5354G>A (p.Gly1785Asp)
c.4808G>A (p.Gly1603Asp)
c.4535G>A (p.Gly1512Asp)
c.3986G>A (p.Gly1329Asp)
c.5900G>A (p.Gly1967Asp)
c.5624G>A (p.Gly1875Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115040983C>ACA374629172TNCc.542G>T
c.3439G>T (p.Gly1147Cys)
c.4261G>T (p.Gly1421Cys)
c.2293G>T (p.Gly765Cys)
c.949G>T (p.Gly317Cys)
c.4308G>T
c.5350G>T (p.Gly1784Cys)
c.4804G>T (p.Gly1602Cys)
c.4531G>T (p.Gly1511Cys)
n.477G>T
n.264G>T
c.1037G>T
c.5077G>T (p.Gly1693Cys)
c.4258G>T (p.Gly1420Cys)
c.3712G>T (p.Gly1238Cys)
c.5626G>T (p.Gly1876Cys)
c.5353G>T (p.Gly1785Cys)
c.4807G>T (p.Gly1603Cys)
c.4534G>T (p.Gly1512Cys)
c.3985G>T (p.Gly1329Cys)
c.5899G>T (p.Gly1967Cys)
c.5623G>T (p.Gly1875Cys)
9g.115040983C>GCA374629174TNCc.542G>C
c.3439G>C (p.Gly1147Arg)
c.4261G>C (p.Gly1421Arg)
c.2293G>C (p.Gly765Arg)
c.949G>C (p.Gly317Arg)
c.4308G>C
c.5350G>C (p.Gly1784Arg)
c.4804G>C (p.Gly1602Arg)
c.4531G>C (p.Gly1511Arg)
n.477G>C
n.264G>C
c.1037G>C
c.5077G>C (p.Gly1693Arg)
c.4258G>C (p.Gly1420Arg)
c.3712G>C (p.Gly1238Arg)
c.5626G>C (p.Gly1876Arg)
c.5353G>C (p.Gly1785Arg)
c.4807G>C (p.Gly1603Arg)
c.4534G>C (p.Gly1512Arg)
c.3985G>C (p.Gly1329Arg)
c.5899G>C (p.Gly1967Arg)
c.5623G>C (p.Gly1875Arg)
9g.115040983C>TCA374629176TNCc.542G>A
c.3439G>A (p.Gly1147Ser)
c.4261G>A (p.Gly1421Ser)
c.2293G>A (p.Gly765Ser)
c.949G>A (p.Gly317Ser)
c.4308G>A
c.5350G>A (p.Gly1784Ser)
c.4804G>A (p.Gly1602Ser)
c.4531G>A (p.Gly1511Ser)
n.477G>A
n.264G>A
c.1037G>A
c.5077G>A (p.Gly1693Ser)
c.4258G>A (p.Gly1420Ser)
c.3712G>A (p.Gly1238Ser)
c.5626G>A (p.Gly1876Ser)
c.5353G>A (p.Gly1785Ser)
c.4807G>A (p.Gly1603Ser)
c.4534G>A (p.Gly1512Ser)
c.3985G>A (p.Gly1329Ser)
c.5899G>A (p.Gly1967Ser)
c.5623G>A (p.Gly1875Ser)
 dbSNP COSMIC
9g.115040984C>ACA374629178TNCc.541G>T
c.3438G>T (p.Lys1146Asn)
c.4260G>T (p.Lys1420Asn)
c.2292G>T (p.Lys764Asn)
c.948G>T (p.Lys316Asn)
c.4307G>T
c.5349G>T (p.Lys1783Asn)
c.4803G>T (p.Lys1601Asn)
c.4530G>T (p.Lys1510Asn)
n.476G>T
n.263G>T
c.1036G>T
c.5076G>T (p.Lys1692Asn)
c.4257G>T (p.Lys1419Asn)
c.3711G>T (p.Lys1237Asn)
c.5625G>T (p.Lys1875Asn)
c.5352G>T (p.Lys1784Asn)
c.4806G>T (p.Lys1602Asn)
c.4533G>T (p.Lys1511Asn)
c.3984G>T (p.Lys1328Asn)
c.5898G>T (p.Lys1966Asn)
c.5622G>T (p.Lys1874Asn)
 gnomAD v4
9g.115040984C=CA1874116328TNCc.541G=
c.3438G= (p.Lys1146=)
c.4260G= (p.Lys1420=)
c.2292G= (p.Lys764=)
c.948G= (p.Lys316=)
c.4307G=
c.5349G= (p.Lys1783=)
c.4803G= (p.Lys1601=)
c.4530G= (p.Lys1510=)
n.476G=
n.263G=
c.1036G=
c.5076G= (p.Lys1692=)
c.4257G= (p.Lys1419=)
c.3711G= (p.Lys1237=)
c.5625G= (p.Lys1875=)
c.5352G= (p.Lys1784=)
c.4806G= (p.Lys1602=)
c.4533G= (p.Lys1511=)
c.3984G= (p.Lys1328=)
c.5898G= (p.Lys1966=)
c.5622G= (p.Lys1874=)
9g.115040984C>GCA374629180TNCc.541G>C
c.3438G>C (p.Lys1146Asn)
c.4260G>C (p.Lys1420Asn)
c.2292G>C (p.Lys764Asn)
c.948G>C (p.Lys316Asn)
c.4307G>C
c.5349G>C (p.Lys1783Asn)
c.4803G>C (p.Lys1601Asn)
c.4530G>C (p.Lys1510Asn)
n.476G>C
n.263G>C
c.1036G>C
c.5076G>C (p.Lys1692Asn)
c.4257G>C (p.Lys1419Asn)
c.3711G>C (p.Lys1237Asn)
c.5625G>C (p.Lys1875Asn)
c.5352G>C (p.Lys1784Asn)
c.4806G>C (p.Lys1602Asn)
c.4533G>C (p.Lys1511Asn)
c.3984G>C (p.Lys1328Asn)
c.5898G>C (p.Lys1966Asn)
c.5622G>C (p.Lys1874Asn)
9g.115040984C>TCA198685252TNCc.541G>A
c.3438G>A (p.Lys1146=)
c.4260G>A (p.Lys1420=)
c.2292G>A (p.Lys764=)
c.948G>A (p.Lys316=)
c.4307G>A
c.5349G>A (p.Lys1783=)
c.4803G>A (p.Lys1601=)
c.4530G>A (p.Lys1510=)
n.476G>A
n.263G>A
c.1036G>A
c.5076G>A (p.Lys1692=)
c.4257G>A (p.Lys1419=)
c.3711G>A (p.Lys1237=)
c.5625G>A (p.Lys1875=)
c.5352G>A (p.Lys1784=)
c.4806G>A (p.Lys1602=)
c.4533G>A (p.Lys1511=)
c.3984G>A (p.Lys1328=)
c.5898G>A (p.Lys1966=)
c.5622G>A (p.Lys1874=)
 dbSNP gnomAD v3 gnomAD v4
9g.115040985T>ACA374629183TNCc.540A>T
c.3437A>T (p.Lys1146Met)
c.4259A>T (p.Lys1420Met)
c.2291A>T (p.Lys764Met)
c.947A>T (p.Lys316Met)
c.4306A>T
c.5348A>T (p.Lys1783Met)
c.4802A>T (p.Lys1601Met)
c.4529A>T (p.Lys1510Met)
n.475A>T
n.262A>T
c.1035A>T
c.5075A>T (p.Lys1692Met)
c.4256A>T (p.Lys1419Met)
c.3710A>T (p.Lys1237Met)
c.5624A>T (p.Lys1875Met)
c.5351A>T (p.Lys1784Met)
c.4805A>T (p.Lys1602Met)
c.4532A>T (p.Lys1511Met)
c.3983A>T (p.Lys1328Met)
c.5897A>T (p.Lys1966Met)
c.5621A>T (p.Lys1874Met)
9g.115040985T>CCA374629186TNCc.540A>G
c.3437A>G (p.Lys1146Arg)
c.4259A>G (p.Lys1420Arg)
c.2291A>G (p.Lys764Arg)
c.947A>G (p.Lys316Arg)
c.4306A>G
c.5348A>G (p.Lys1783Arg)
c.4802A>G (p.Lys1601Arg)
c.4529A>G (p.Lys1510Arg)
n.475A>G
n.262A>G
c.1035A>G
c.5075A>G (p.Lys1692Arg)
c.4256A>G (p.Lys1419Arg)
c.3710A>G (p.Lys1237Arg)
c.5624A>G (p.Lys1875Arg)
c.5351A>G (p.Lys1784Arg)
c.4805A>G (p.Lys1602Arg)
c.4532A>G (p.Lys1511Arg)
c.3983A>G (p.Lys1328Arg)
c.5897A>G (p.Lys1966Arg)
c.5621A>G (p.Lys1874Arg)
9g.115040985T>GCA374629184TNCc.540A>C
c.3437A>C (p.Lys1146Thr)
c.4259A>C (p.Lys1420Thr)
c.2291A>C (p.Lys764Thr)
c.947A>C (p.Lys316Thr)
c.4306A>C
c.5348A>C (p.Lys1783Thr)
c.4802A>C (p.Lys1601Thr)
c.4529A>C (p.Lys1510Thr)
n.475A>C
n.262A>C
c.1035A>C
c.5075A>C (p.Lys1692Thr)
c.4256A>C (p.Lys1419Thr)
c.3710A>C (p.Lys1237Thr)
c.5624A>C (p.Lys1875Thr)
c.5351A>C (p.Lys1784Thr)
c.4805A>C (p.Lys1602Thr)
c.4532A>C (p.Lys1511Thr)
c.3983A>C (p.Lys1328Thr)
c.5897A>C (p.Lys1966Thr)
c.5621A>C (p.Lys1874Thr)
9g.115040986T>ACA374629188TNCc.539A>T
c.3436A>T (p.Lys1146Ter)
c.4258A>T (p.Lys1420Ter)
c.2290A>T (p.Lys764Ter)
c.946A>T (p.Lys316Ter)
c.4305A>T
c.5347A>T (p.Lys1783Ter)
c.4801A>T (p.Lys1601Ter)
c.4528A>T (p.Lys1510Ter)
n.474A>T
n.261A>T
c.1034A>T
c.5074A>T (p.Lys1692Ter)
c.4255A>T (p.Lys1419Ter)
c.3709A>T (p.Lys1237Ter)
c.5623A>T (p.Lys1875Ter)
c.5350A>T (p.Lys1784Ter)
c.4804A>T (p.Lys1602Ter)
c.4531A>T (p.Lys1511Ter)
c.3982A>T (p.Lys1328Ter)
c.5896A>T (p.Lys1966Ter)
c.5620A>T (p.Lys1874Ter)
9g.115040986T>CCA374629190TNCc.539A>G
c.3436A>G (p.Lys1146Glu)
c.4258A>G (p.Lys1420Glu)
c.2290A>G (p.Lys764Glu)
c.946A>G (p.Lys316Glu)
c.4305A>G
c.5347A>G (p.Lys1783Glu)
c.4801A>G (p.Lys1601Glu)
c.4528A>G (p.Lys1510Glu)
n.474A>G
n.261A>G
c.1034A>G
c.5074A>G (p.Lys1692Glu)
c.4255A>G (p.Lys1419Glu)
c.3709A>G (p.Lys1237Glu)
c.5623A>G (p.Lys1875Glu)
c.5350A>G (p.Lys1784Glu)
c.4804A>G (p.Lys1602Glu)
c.4531A>G (p.Lys1511Glu)
c.3982A>G (p.Lys1328Glu)
c.5896A>G (p.Lys1966Glu)
c.5620A>G (p.Lys1874Glu)
9g.115040986T>GCA374629192TNCc.539A>C
c.3436A>C (p.Lys1146Gln)
c.4258A>C (p.Lys1420Gln)
c.2290A>C (p.Lys764Gln)
c.946A>C (p.Lys316Gln)
c.4305A>C
c.5347A>C (p.Lys1783Gln)
c.4801A>C (p.Lys1601Gln)
c.4528A>C (p.Lys1510Gln)
n.474A>C
n.261A>C
c.1034A>C
c.5074A>C (p.Lys1692Gln)
c.4255A>C (p.Lys1419Gln)
c.3709A>C (p.Lys1237Gln)
c.5623A>C (p.Lys1875Gln)
c.5350A>C (p.Lys1784Gln)
c.4804A>C (p.Lys1602Gln)
c.4531A>C (p.Lys1511Gln)
c.3982A>C (p.Lys1328Gln)
c.5896A>C (p.Lys1966Gln)
c.5620A>C (p.Lys1874Gln)
9g.115040987C>ACA5207683TNCc.538G>T
c.3435G>T (p.Met1145Ile)
c.4257G>T (p.Met1419Ile)
c.2289G>T (p.Met763Ile)
c.945G>T (p.Met315Ile)
c.4304G>T
c.5346G>T (p.Met1782Ile)
c.4800G>T (p.Met1600Ile)
c.4527G>T (p.Met1509Ile)
n.473G>T
n.260G>T
c.1033G>T
c.5073G>T (p.Met1691Ile)
c.4254G>T (p.Met1418Ile)
c.3708G>T (p.Met1236Ile)
c.5622G>T (p.Met1874Ile)
c.5349G>T (p.Met1783Ile)
c.4803G>T (p.Met1601Ile)
c.4530G>T (p.Met1510Ile)
c.3981G>T (p.Met1327Ile)
c.5895G>T (p.Met1965Ile)
c.5619G>T (p.Met1873Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115040987C=CA1874116329TNCc.538G=
c.3435G= (p.Met1145=)
c.4257G= (p.Met1419=)
c.2289G= (p.Met763=)
c.945G= (p.Met315=)
c.4304G=
c.5346G= (p.Met1782=)
c.4800G= (p.Met1600=)
c.4527G= (p.Met1509=)
n.473G=
n.260G=
c.1033G=
c.5073G= (p.Met1691=)
c.4254G= (p.Met1418=)
c.3708G= (p.Met1236=)
c.5622G= (p.Met1874=)
c.5349G= (p.Met1783=)
c.4803G= (p.Met1601=)
c.4530G= (p.Met1510=)
c.3981G= (p.Met1327=)
c.5895G= (p.Met1965=)
c.5619G= (p.Met1873=)
9g.115040987C>GCA374629194TNCc.538G>C
c.3435G>C (p.Met1145Ile)
c.4257G>C (p.Met1419Ile)
c.2289G>C (p.Met763Ile)
c.945G>C (p.Met315Ile)
c.4304G>C
c.5346G>C (p.Met1782Ile)
c.4800G>C (p.Met1600Ile)
c.4527G>C (p.Met1509Ile)
n.473G>C
n.260G>C
c.1033G>C
c.5073G>C (p.Met1691Ile)
c.4254G>C (p.Met1418Ile)
c.3708G>C (p.Met1236Ile)
c.5622G>C (p.Met1874Ile)
c.5349G>C (p.Met1783Ile)
c.4803G>C (p.Met1601Ile)
c.4530G>C (p.Met1510Ile)
c.3981G>C (p.Met1327Ile)
c.5895G>C (p.Met1965Ile)
c.5619G>C (p.Met1873Ile)
9g.115040987C>TCA374629195TNCc.538G>A
c.3435G>A (p.Met1145Ile)
c.4257G>A (p.Met1419Ile)
c.2289G>A (p.Met763Ile)
c.945G>A (p.Met315Ile)
c.4304G>A
c.5346G>A (p.Met1782Ile)
c.4800G>A (p.Met1600Ile)
c.4527G>A (p.Met1509Ile)
n.473G>A
n.260G>A
c.1033G>A
c.5073G>A (p.Met1691Ile)
c.4254G>A (p.Met1418Ile)
c.3708G>A (p.Met1236Ile)
c.5622G>A (p.Met1874Ile)
c.5349G>A (p.Met1783Ile)
c.4803G>A (p.Met1601Ile)
c.4530G>A (p.Met1510Ile)
c.3981G>A (p.Met1327Ile)
c.5895G>A (p.Met1965Ile)
c.5619G>A (p.Met1873Ile)
9g.115040988A>CCA374629198TNCc.537T>G
c.3434T>G (p.Met1145Arg)
c.4256T>G (p.Met1419Arg)
c.2288T>G (p.Met763Arg)
c.944T>G (p.Met315Arg)
c.4303T>G
c.5345T>G (p.Met1782Arg)
c.4799T>G (p.Met1600Arg)
c.4526T>G (p.Met1509Arg)
n.472T>G
n.259T>G
c.1032T>G
c.5072T>G (p.Met1691Arg)
c.4253T>G (p.Met1418Arg)
c.3707T>G (p.Met1236Arg)
c.5621T>G (p.Met1874Arg)
c.5348T>G (p.Met1783Arg)
c.4802T>G (p.Met1601Arg)
c.4529T>G (p.Met1510Arg)
c.3980T>G (p.Met1327Arg)
c.5894T>G (p.Met1965Arg)
c.5618T>G (p.Met1873Arg)
9g.115040988A>GCA374629200TNCc.537T>C
c.3434T>C (p.Met1145Thr)
c.4256T>C (p.Met1419Thr)
c.2288T>C (p.Met763Thr)
c.944T>C (p.Met315Thr)
c.4303T>C
c.5345T>C (p.Met1782Thr)
c.4799T>C (p.Met1600Thr)
c.4526T>C (p.Met1509Thr)
n.472T>C
n.259T>C
c.1032T>C
c.5072T>C (p.Met1691Thr)
c.4253T>C (p.Met1418Thr)
c.3707T>C (p.Met1236Thr)
c.5621T>C (p.Met1874Thr)
c.5348T>C (p.Met1783Thr)
c.4802T>C (p.Met1601Thr)
c.4529T>C (p.Met1510Thr)
c.3980T>C (p.Met1327Thr)
c.5894T>C (p.Met1965Thr)
c.5618T>C (p.Met1873Thr)
 ClinVar COSMIC
9g.115040988A>TCA374629202TNCc.537T>A
c.3434T>A (p.Met1145Lys)
c.4256T>A (p.Met1419Lys)
c.2288T>A (p.Met763Lys)
c.944T>A (p.Met315Lys)
c.4303T>A
c.5345T>A (p.Met1782Lys)
c.4799T>A (p.Met1600Lys)
c.4526T>A (p.Met1509Lys)
n.472T>A
n.259T>A
c.1032T>A
c.5072T>A (p.Met1691Lys)
c.4253T>A (p.Met1418Lys)
c.3707T>A (p.Met1236Lys)
c.5621T>A (p.Met1874Lys)
c.5348T>A (p.Met1783Lys)
c.4802T>A (p.Met1601Lys)
c.4529T>A (p.Met1510Lys)
c.3980T>A (p.Met1327Lys)
c.5894T>A (p.Met1965Lys)
c.5618T>A (p.Met1873Lys)
9g.115040989T>ACA374629204TNCc.536A>T
c.3433A>T (p.Met1145Leu)
c.4255A>T (p.Met1419Leu)
c.2287A>T (p.Met763Leu)
c.943A>T (p.Met315Leu)
c.4302A>T
c.5344A>T (p.Met1782Leu)
c.4798A>T (p.Met1600Leu)
c.4525A>T (p.Met1509Leu)
n.471A>T
n.258A>T
c.1031A>T
c.5071A>T (p.Met1691Leu)
c.4252A>T (p.Met1418Leu)
c.3706A>T (p.Met1236Leu)
c.5620A>T (p.Met1874Leu)
c.5347A>T (p.Met1783Leu)
c.4801A>T (p.Met1601Leu)
c.4528A>T (p.Met1510Leu)
c.3979A>T (p.Met1327Leu)
c.5893A>T (p.Met1965Leu)
c.5617A>T (p.Met1873Leu)
9g.115040989T>CCA374629206TNCc.536A>G
c.3433A>G (p.Met1145Val)
c.4255A>G (p.Met1419Val)
c.2287A>G (p.Met763Val)
c.943A>G (p.Met315Val)
c.4302A>G
c.5344A>G (p.Met1782Val)
c.4798A>G (p.Met1600Val)
c.4525A>G (p.Met1509Val)
n.471A>G
n.258A>G
c.1031A>G
c.5071A>G (p.Met1691Val)
c.4252A>G (p.Met1418Val)
c.3706A>G (p.Met1236Val)
c.5620A>G (p.Met1874Val)
c.5347A>G (p.Met1783Val)
c.4801A>G (p.Met1601Val)
c.4528A>G (p.Met1510Val)
c.3979A>G (p.Met1327Val)
c.5893A>G (p.Met1965Val)
c.5617A>G (p.Met1873Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.115040989T>GCA374629208TNCc.536A>C
c.3433A>C (p.Met1145Leu)
c.4255A>C (p.Met1419Leu)
c.2287A>C (p.Met763Leu)
c.943A>C (p.Met315Leu)
c.4302A>C
c.5344A>C (p.Met1782Leu)
c.4798A>C (p.Met1600Leu)
c.4525A>C (p.Met1509Leu)
n.471A>C
n.258A>C
c.1031A>C
c.5071A>C (p.Met1691Leu)
c.4252A>C (p.Met1418Leu)
c.3706A>C (p.Met1236Leu)
c.5620A>C (p.Met1874Leu)
c.5347A>C (p.Met1783Leu)
c.4801A>C (p.Met1601Leu)
c.4528A>C (p.Met1510Leu)
c.3979A>C (p.Met1327Leu)
c.5893A>C (p.Met1965Leu)
c.5617A>C (p.Met1873Leu)
9g.115040989T=CA1874116331TNCc.536A=
c.3433A= (p.Met1145=)
c.4255A= (p.Met1419=)
c.2287A= (p.Met763=)
c.943A= (p.Met315=)
c.4302A=
c.5344A= (p.Met1782=)
c.4798A= (p.Met1600=)
c.4525A= (p.Met1509=)
n.471A=
n.258A=
c.1031A=
c.5071A= (p.Met1691=)
c.4252A= (p.Met1418=)
c.3706A= (p.Met1236=)
c.5620A= (p.Met1874=)
c.5347A= (p.Met1783=)
c.4801A= (p.Met1601=)
c.4528A= (p.Met1510=)
c.3979A= (p.Met1327=)
c.5893A= (p.Met1965=)
c.5617A= (p.Met1873=)
9g.115040990G>ACA466790976TNCc.535C>T
c.3432C>T (p.Ala1144=)
c.4254C>T (p.Ala1418=)
c.2286C>T (p.Ala762=)
c.942C>T (p.Ala314=)
c.4301C>T
c.5343C>T (p.Ala1781=)
c.4797C>T (p.Ala1599=)
c.4524C>T (p.Ala1508=)
n.470C>T
n.257C>T
c.1030C>T
c.5070C>T (p.Ala1690=)
c.4251C>T (p.Ala1417=)
c.3705C>T (p.Ala1235=)
c.5619C>T (p.Ala1873=)
c.5346C>T (p.Ala1782=)
c.4800C>T (p.Ala1600=)
c.4527C>T (p.Ala1509=)
c.3978C>T (p.Ala1326=)
c.5892C>T (p.Ala1964=)
c.5616C>T (p.Ala1872=)
 COSMIC
9g.115040990G>CCA466790977TNCc.535C>G
c.3432C>G (p.Ala1144=)
c.4254C>G (p.Ala1418=)
c.2286C>G (p.Ala762=)
c.942C>G (p.Ala314=)
c.4301C>G
c.5343C>G (p.Ala1781=)
c.4797C>G (p.Ala1599=)
c.4524C>G (p.Ala1508=)
n.470C>G
n.257C>G
c.1030C>G
c.5070C>G (p.Ala1690=)
c.4251C>G (p.Ala1417=)
c.3705C>G (p.Ala1235=)
c.5619C>G (p.Ala1873=)
c.5346C>G (p.Ala1782=)
c.4800C>G (p.Ala1600=)
c.4527C>G (p.Ala1509=)
c.3978C>G (p.Ala1326=)
c.5892C>G (p.Ala1964=)
c.5616C>G (p.Ala1872=)
9g.115040990G>TCA466790978TNCc.535C>A
c.3432C>A (p.Ala1144=)
c.4254C>A (p.Ala1418=)
c.2286C>A (p.Ala762=)
c.942C>A (p.Ala314=)
c.4301C>A
c.5343C>A (p.Ala1781=)
c.4797C>A (p.Ala1599=)
c.4524C>A (p.Ala1508=)
n.470C>A
n.257C>A
c.1030C>A
c.5070C>A (p.Ala1690=)
c.4251C>A (p.Ala1417=)
c.3705C>A (p.Ala1235=)
c.5619C>A (p.Ala1873=)
c.5346C>A (p.Ala1782=)
c.4800C>A (p.Ala1600=)
c.4527C>A (p.Ala1509=)
c.3978C>A (p.Ala1326=)
c.5892C>A (p.Ala1964=)
c.5616C>A (p.Ala1872=)
9g.115040991G>ACA374629212TNCc.534C>T
c.3431C>T (p.Ala1144Val)
c.4253C>T (p.Ala1418Val)
c.2285C>T (p.Ala762Val)
c.941C>T (p.Ala314Val)
c.4300C>T
c.5342C>T (p.Ala1781Val)
c.4796C>T (p.Ala1599Val)
c.4523C>T (p.Ala1508Val)
n.469C>T
n.256C>T
c.1029C>T
c.5069C>T (p.Ala1690Val)
c.4250C>T (p.Ala1417Val)
c.3704C>T (p.Ala1235Val)
c.5618C>T (p.Ala1873Val)
c.5345C>T (p.Ala1782Val)
c.4799C>T (p.Ala1600Val)
c.4526C>T (p.Ala1509Val)
c.3977C>T (p.Ala1326Val)
c.5891C>T (p.Ala1964Val)
c.5615C>T (p.Ala1872Val)
9g.115040991G>CCA374629214TNCc.534C>G
c.3431C>G (p.Ala1144Gly)
c.4253C>G (p.Ala1418Gly)
c.2285C>G (p.Ala762Gly)
c.941C>G (p.Ala314Gly)
c.4300C>G
c.5342C>G (p.Ala1781Gly)
c.4796C>G (p.Ala1599Gly)
c.4523C>G (p.Ala1508Gly)
n.469C>G
n.256C>G
c.1029C>G
c.5069C>G (p.Ala1690Gly)
c.4250C>G (p.Ala1417Gly)
c.3704C>G (p.Ala1235Gly)
c.5618C>G (p.Ala1873Gly)
c.5345C>G (p.Ala1782Gly)
c.4799C>G (p.Ala1600Gly)
c.4526C>G (p.Ala1509Gly)
c.3977C>G (p.Ala1326Gly)
c.5891C>G (p.Ala1964Gly)
c.5615C>G (p.Ala1872Gly)
9g.115040991G>TCA374629210TNCc.534C>A
c.3431C>A (p.Ala1144Asp)
c.4253C>A (p.Ala1418Asp)
c.2285C>A (p.Ala762Asp)
c.941C>A (p.Ala314Asp)
c.4300C>A
c.5342C>A (p.Ala1781Asp)
c.4796C>A (p.Ala1599Asp)
c.4523C>A (p.Ala1508Asp)
n.469C>A
n.256C>A
c.1029C>A
c.5069C>A (p.Ala1690Asp)
c.4250C>A (p.Ala1417Asp)
c.3704C>A (p.Ala1235Asp)
c.5618C>A (p.Ala1873Asp)
c.5345C>A (p.Ala1782Asp)
c.4799C>A (p.Ala1600Asp)
c.4526C>A (p.Ala1509Asp)
c.3977C>A (p.Ala1326Asp)
c.5891C>A (p.Ala1964Asp)
c.5615C>A (p.Ala1872Asp)
9g.115040992C>ACA374629215TNCc.533G>T
c.3430G>T (p.Ala1144Ser)
c.4252G>T (p.Ala1418Ser)
c.2284G>T (p.Ala762Ser)
c.940G>T (p.Ala314Ser)
c.4299G>T
c.5341G>T (p.Ala1781Ser)
c.4795G>T (p.Ala1599Ser)
c.4522G>T (p.Ala1508Ser)
n.468G>T
n.255G>T
c.1028G>T
c.5068G>T (p.Ala1690Ser)
c.4249G>T (p.Ala1417Ser)
c.3703G>T (p.Ala1235Ser)
c.5617G>T (p.Ala1873Ser)
c.5344G>T (p.Ala1782Ser)
c.4798G>T (p.Ala1600Ser)
c.4525G>T (p.Ala1509Ser)
c.3976G>T (p.Ala1326Ser)
c.5890G>T (p.Ala1964Ser)
c.5614G>T (p.Ala1872Ser)
9g.115040992C=CA1874116340TNCc.533G=
c.3430G= (p.Ala1144=)
c.4252G= (p.Ala1418=)
c.2284G= (p.Ala762=)
c.940G= (p.Ala314=)
c.4299G=
c.5341G= (p.Ala1781=)
c.4795G= (p.Ala1599=)
c.4522G= (p.Ala1508=)
n.468G=
n.255G=
c.1028G=
c.5068G= (p.Ala1690=)
c.4249G= (p.Ala1417=)
c.3703G= (p.Ala1235=)
c.5617G= (p.Ala1873=)
c.5344G= (p.Ala1782=)
c.4798G= (p.Ala1600=)
c.4525G= (p.Ala1509=)
c.3976G= (p.Ala1326=)
c.5890G= (p.Ala1964=)
c.5614G= (p.Ala1872=)
9g.115040992C>GCA374629217TNCc.533G>C
c.3430G>C (p.Ala1144Pro)
c.4252G>C (p.Ala1418Pro)
c.2284G>C (p.Ala762Pro)
c.940G>C (p.Ala314Pro)
c.4299G>C
c.5341G>C (p.Ala1781Pro)
c.4795G>C (p.Ala1599Pro)
c.4522G>C (p.Ala1508Pro)
n.468G>C
n.255G>C
c.1028G>C
c.5068G>C (p.Ala1690Pro)
c.4249G>C (p.Ala1417Pro)
c.3703G>C (p.Ala1235Pro)
c.5617G>C (p.Ala1873Pro)
c.5344G>C (p.Ala1782Pro)
c.4798G>C (p.Ala1600Pro)
c.4525G>C (p.Ala1509Pro)
c.3976G>C (p.Ala1326Pro)
c.5890G>C (p.Ala1964Pro)
c.5614G>C (p.Ala1872Pro)
9g.115040992C>TCA5207684TNCc.533G>A
c.3430G>A (p.Ala1144Thr)
c.4252G>A (p.Ala1418Thr)
c.2284G>A (p.Ala762Thr)
c.940G>A (p.Ala314Thr)
c.4299G>A
c.5341G>A (p.Ala1781Thr)
c.4795G>A (p.Ala1599Thr)
c.4522G>A (p.Ala1508Thr)
n.468G>A
n.255G>A
c.1028G>A
c.5068G>A (p.Ala1690Thr)
c.4249G>A (p.Ala1417Thr)
c.3703G>A (p.Ala1235Thr)
c.5617G>A (p.Ala1873Thr)
c.5344G>A (p.Ala1782Thr)
c.4798G>A (p.Ala1600Thr)
c.4525G>A (p.Ala1509Thr)
c.3976G>A (p.Ala1326Thr)
c.5890G>A (p.Ala1964Thr)
c.5614G>A (p.Ala1872Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115040993G>ACA5207685TNCc.532C>T
c.3429C>T (p.Ile1143=)
c.4251C>T (p.Ile1417=)
c.2283C>T (p.Ile761=)
c.939C>T (p.Ile313=)
c.4298C>T
c.5340C>T (p.Ile1780=)
c.4794C>T (p.Ile1598=)
c.4521C>T (p.Ile1507=)
n.467C>T
n.254C>T
c.1027C>T
c.5067C>T (p.Ile1689=)
c.4248C>T (p.Ile1416=)
c.3702C>T (p.Ile1234=)
c.5616C>T (p.Ile1872=)
c.5343C>T (p.Ile1781=)
c.4797C>T (p.Ile1599=)
c.4524C>T (p.Ile1508=)
c.3975C>T (p.Ile1325=)
c.5889C>T (p.Ile1963=)
c.5613C>T (p.Ile1871=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115040993G>CCA374629221TNCc.532C>G
c.3429C>G (p.Ile1143Met)
c.4251C>G (p.Ile1417Met)
c.2283C>G (p.Ile761Met)
c.939C>G (p.Ile313Met)
c.4298C>G
c.5340C>G (p.Ile1780Met)
c.4794C>G (p.Ile1598Met)
c.4521C>G (p.Ile1507Met)
n.467C>G
n.254C>G
c.1027C>G
c.5067C>G (p.Ile1689Met)
c.4248C>G (p.Ile1416Met)
c.3702C>G (p.Ile1234Met)
c.5616C>G (p.Ile1872Met)
c.5343C>G (p.Ile1781Met)
c.4797C>G (p.Ile1599Met)
c.4524C>G (p.Ile1508Met)
c.3975C>G (p.Ile1325Met)
c.5889C>G (p.Ile1963Met)
c.5613C>G (p.Ile1871Met)
9g.115040993G=CA1874116343TNCc.532C=
c.3429C= (p.Ile1143=)
c.4251C= (p.Ile1417=)
c.2283C= (p.Ile761=)
c.939C= (p.Ile313=)
c.4298C=
c.5340C= (p.Ile1780=)
c.4794C= (p.Ile1598=)
c.4521C= (p.Ile1507=)
n.467C=
n.254C=
c.1027C=
c.5067C= (p.Ile1689=)
c.4248C= (p.Ile1416=)
c.3702C= (p.Ile1234=)
c.5616C= (p.Ile1872=)
c.5343C= (p.Ile1781=)
c.4797C= (p.Ile1599=)
c.4524C= (p.Ile1508=)
c.3975C= (p.Ile1325=)
c.5889C= (p.Ile1963=)
c.5613C= (p.Ile1871=)
9g.115040993G>TCA466790979TNCc.532C>A
c.3429C>A (p.Ile1143=)
c.4251C>A (p.Ile1417=)
c.2283C>A (p.Ile761=)
c.939C>A (p.Ile313=)
c.4298C>A
c.5340C>A (p.Ile1780=)
c.4794C>A (p.Ile1598=)
c.4521C>A (p.Ile1507=)
n.467C>A
n.254C>A
c.1027C>A
c.5067C>A (p.Ile1689=)
c.4248C>A (p.Ile1416=)
c.3702C>A (p.Ile1234=)
c.5616C>A (p.Ile1872=)
c.5343C>A (p.Ile1781=)
c.4797C>A (p.Ile1599=)
c.4524C>A (p.Ile1508=)
c.3975C>A (p.Ile1325=)
c.5889C>A (p.Ile1963=)
c.5613C>A (p.Ile1871=)
 dbSNP COSMIC
9g.115040994A=CA1874116345TNCc.531T=
c.3428T= (p.Ile1143=)
c.4250T= (p.Ile1417=)
c.2282T= (p.Ile761=)
c.938T= (p.Ile313=)
c.4297T=
c.5339T= (p.Ile1780=)
c.4793T= (p.Ile1598=)
c.4520T= (p.Ile1507=)
n.466T=
n.253T=
c.1026T=
c.5066T= (p.Ile1689=)
c.4247T= (p.Ile1416=)
c.3701T= (p.Ile1234=)
c.5615T= (p.Ile1872=)
c.5342T= (p.Ile1781=)
c.4796T= (p.Ile1599=)
c.4523T= (p.Ile1508=)
c.3974T= (p.Ile1325=)
c.5888T= (p.Ile1963=)
c.5612T= (p.Ile1871=)
9g.115040994A>CCA374629225TNCc.531T>G
c.3428T>G (p.Ile1143Ser)
c.4250T>G (p.Ile1417Ser)
c.2282T>G (p.Ile761Ser)
c.938T>G (p.Ile313Ser)
c.4297T>G
c.5339T>G (p.Ile1780Ser)
c.4793T>G (p.Ile1598Ser)
c.4520T>G (p.Ile1507Ser)
n.466T>G
n.253T>G
c.1026T>G
c.5066T>G (p.Ile1689Ser)
c.4247T>G (p.Ile1416Ser)
c.3701T>G (p.Ile1234Ser)
c.5615T>G (p.Ile1872Ser)
c.5342T>G (p.Ile1781Ser)
c.4796T>G (p.Ile1599Ser)
c.4523T>G (p.Ile1508Ser)
c.3974T>G (p.Ile1325Ser)
c.5888T>G (p.Ile1963Ser)
c.5612T>G (p.Ile1871Ser)
9g.115040994A>GCA374629224TNCc.531T>C
c.3428T>C (p.Ile1143Thr)
c.4250T>C (p.Ile1417Thr)
c.2282T>C (p.Ile761Thr)
c.938T>C (p.Ile313Thr)
c.4297T>C
c.5339T>C (p.Ile1780Thr)
c.4793T>C (p.Ile1598Thr)
c.4520T>C (p.Ile1507Thr)
n.466T>C
n.253T>C
c.1026T>C
c.5066T>C (p.Ile1689Thr)
c.4247T>C (p.Ile1416Thr)
c.3701T>C (p.Ile1234Thr)
c.5615T>C (p.Ile1872Thr)
c.5342T>C (p.Ile1781Thr)
c.4796T>C (p.Ile1599Thr)
c.4523T>C (p.Ile1508Thr)
c.3974T>C (p.Ile1325Thr)
c.5888T>C (p.Ile1963Thr)
c.5612T>C (p.Ile1871Thr)
 dbSNP gnomAD v2 gnomAD v4
9g.115040994A>TCA374629223TNCc.531T>A
c.3428T>A (p.Ile1143Asn)
c.4250T>A (p.Ile1417Asn)
c.2282T>A (p.Ile761Asn)
c.938T>A (p.Ile313Asn)
c.4297T>A
c.5339T>A (p.Ile1780Asn)
c.4793T>A (p.Ile1598Asn)
c.4520T>A (p.Ile1507Asn)
n.466T>A
n.253T>A
c.1026T>A
c.5066T>A (p.Ile1689Asn)
c.4247T>A (p.Ile1416Asn)
c.3701T>A (p.Ile1234Asn)
c.5615T>A (p.Ile1872Asn)
c.5342T>A (p.Ile1781Asn)
c.4796T>A (p.Ile1599Asn)
c.4523T>A (p.Ile1508Asn)
c.3974T>A (p.Ile1325Asn)
c.5888T>A (p.Ile1963Asn)
c.5612T>A (p.Ile1871Asn)
9g.115040995T>ACA374629227TNCc.530A>T
c.3427A>T (p.Ile1143Phe)
c.4249A>T (p.Ile1417Phe)
c.2281A>T (p.Ile761Phe)
c.937A>T (p.Ile313Phe)
c.4296A>T
c.5338A>T (p.Ile1780Phe)
c.4792A>T (p.Ile1598Phe)
c.4519A>T (p.Ile1507Phe)
n.465A>T
n.252A>T
c.1025A>T
c.5065A>T (p.Ile1689Phe)
c.4246A>T (p.Ile1416Phe)
c.3700A>T (p.Ile1234Phe)
c.5614A>T (p.Ile1872Phe)
c.5341A>T (p.Ile1781Phe)
c.4795A>T (p.Ile1599Phe)
c.4522A>T (p.Ile1508Phe)
c.3973A>T (p.Ile1325Phe)
c.5887A>T (p.Ile1963Phe)
c.5611A>T (p.Ile1871Phe)
9g.115040995T>CCA374629228TNCc.530A>G
c.3427A>G (p.Ile1143Val)
c.4249A>G (p.Ile1417Val)
c.2281A>G (p.Ile761Val)
c.937A>G (p.Ile313Val)
c.4296A>G
c.5338A>G (p.Ile1780Val)
c.4792A>G (p.Ile1598Val)
c.4519A>G (p.Ile1507Val)
n.465A>G
n.252A>G
c.1025A>G
c.5065A>G (p.Ile1689Val)
c.4246A>G (p.Ile1416Val)
c.3700A>G (p.Ile1234Val)
c.5614A>G (p.Ile1872Val)
c.5341A>G (p.Ile1781Val)
c.4795A>G (p.Ile1599Val)
c.4522A>G (p.Ile1508Val)
c.3973A>G (p.Ile1325Val)
c.5887A>G (p.Ile1963Val)
c.5611A>G (p.Ile1871Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.115040995T>GCA374629230TNCc.530A>C
c.3427A>C (p.Ile1143Leu)
c.4249A>C (p.Ile1417Leu)
c.2281A>C (p.Ile761Leu)
c.937A>C (p.Ile313Leu)
c.4296A>C
c.5338A>C (p.Ile1780Leu)
c.4792A>C (p.Ile1598Leu)
c.4519A>C (p.Ile1507Leu)
n.465A>C
n.252A>C
c.1025A>C
c.5065A>C (p.Ile1689Leu)
c.4246A>C (p.Ile1416Leu)
c.3700A>C (p.Ile1234Leu)
c.5614A>C (p.Ile1872Leu)
c.5341A>C (p.Ile1781Leu)
c.4795A>C (p.Ile1599Leu)
c.4522A>C (p.Ile1508Leu)
c.3973A>C (p.Ile1325Leu)
c.5887A>C (p.Ile1963Leu)
c.5611A>C (p.Ile1871Leu)
9g.115040995T=CA1874116347TNCc.530A=
c.3427A= (p.Ile1143=)
c.4249A= (p.Ile1417=)
c.2281A= (p.Ile761=)
c.937A= (p.Ile313=)
c.4296A=
c.5338A= (p.Ile1780=)
c.4792A= (p.Ile1598=)
c.4519A= (p.Ile1507=)
n.465A=
n.252A=
c.1025A=
c.5065A= (p.Ile1689=)
c.4246A= (p.Ile1416=)
c.3700A= (p.Ile1234=)
c.5614A= (p.Ile1872=)
c.5341A= (p.Ile1781=)
c.4795A= (p.Ile1599=)
c.4522A= (p.Ile1508=)
c.3973A= (p.Ile1325=)
c.5887A= (p.Ile1963=)
c.5611A= (p.Ile1871=)
9g.115040996G>ACA466790980TNCc.529C>T
c.3426C>T (p.Ile1142=)
c.4248C>T (p.Ile1416=)
c.2280C>T (p.Ile760=)
c.936C>T (p.Ile312=)
c.4295C>T
c.5337C>T (p.Ile1779=)
c.4791C>T (p.Ile1597=)
c.4518C>T (p.Ile1506=)
n.464C>T
n.251C>T
c.1024C>T
c.5064C>T (p.Ile1688=)
c.4245C>T (p.Ile1415=)
c.3699C>T (p.Ile1233=)
c.5613C>T (p.Ile1871=)
c.5340C>T (p.Ile1780=)
c.4794C>T (p.Ile1598=)
c.4521C>T (p.Ile1507=)
c.3972C>T (p.Ile1324=)
c.5886C>T (p.Ile1962=)
c.5610C>T (p.Ile1870=)
9g.115040996G>CCA374629232TNCc.529C>G
c.3426C>G (p.Ile1142Met)
c.4248C>G (p.Ile1416Met)
c.2280C>G (p.Ile760Met)
c.936C>G (p.Ile312Met)
c.4295C>G
c.5337C>G (p.Ile1779Met)
c.4791C>G (p.Ile1597Met)
c.4518C>G (p.Ile1506Met)
n.464C>G
n.251C>G
c.1024C>G
c.5064C>G (p.Ile1688Met)
c.4245C>G (p.Ile1415Met)
c.3699C>G (p.Ile1233Met)
c.5613C>G (p.Ile1871Met)
c.5340C>G (p.Ile1780Met)
c.4794C>G (p.Ile1598Met)
c.4521C>G (p.Ile1507Met)
c.3972C>G (p.Ile1324Met)
c.5886C>G (p.Ile1962Met)
c.5610C>G (p.Ile1870Met)
9g.115040996G>TCA466790981TNCc.529C>A
c.3426C>A (p.Ile1142=)
c.4248C>A (p.Ile1416=)
c.2280C>A (p.Ile760=)
c.936C>A (p.Ile312=)
c.4295C>A
c.5337C>A (p.Ile1779=)
c.4791C>A (p.Ile1597=)
c.4518C>A (p.Ile1506=)
n.464C>A
n.251C>A
c.1024C>A
c.5064C>A (p.Ile1688=)
c.4245C>A (p.Ile1415=)
c.3699C>A (p.Ile1233=)
c.5613C>A (p.Ile1871=)
c.5340C>A (p.Ile1780=)
c.4794C>A (p.Ile1598=)
c.4521C>A (p.Ile1507=)
c.3972C>A (p.Ile1324=)
c.5886C>A (p.Ile1962=)
c.5610C>A (p.Ile1870=)
 COSMIC
9g.115040997A>CCA374629234TNCc.528T>G
c.3425T>G (p.Ile1142Ser)
c.4247T>G (p.Ile1416Ser)
c.2279T>G (p.Ile760Ser)
c.935T>G (p.Ile312Ser)
c.4294T>G
c.5336T>G (p.Ile1779Ser)
c.4790T>G (p.Ile1597Ser)
c.4517T>G (p.Ile1506Ser)
n.463T>G
n.250T>G
c.1023T>G
c.5063T>G (p.Ile1688Ser)
c.4244T>G (p.Ile1415Ser)
c.3698T>G (p.Ile1233Ser)
c.5612T>G (p.Ile1871Ser)
c.5339T>G (p.Ile1780Ser)
c.4793T>G (p.Ile1598Ser)
c.4520T>G (p.Ile1507Ser)
c.3971T>G (p.Ile1324Ser)
c.5885T>G (p.Ile1962Ser)
c.5609T>G (p.Ile1870Ser)
9g.115040997A>GCA374629236TNCc.528T>C
c.3425T>C (p.Ile1142Thr)
c.4247T>C (p.Ile1416Thr)
c.2279T>C (p.Ile760Thr)
c.935T>C (p.Ile312Thr)
c.4294T>C
c.5336T>C (p.Ile1779Thr)
c.4790T>C (p.Ile1597Thr)
c.4517T>C (p.Ile1506Thr)
n.463T>C
n.250T>C
c.1023T>C
c.5063T>C (p.Ile1688Thr)
c.4244T>C (p.Ile1415Thr)
c.3698T>C (p.Ile1233Thr)
c.5612T>C (p.Ile1871Thr)
c.5339T>C (p.Ile1780Thr)
c.4793T>C (p.Ile1598Thr)
c.4520T>C (p.Ile1507Thr)
c.3971T>C (p.Ile1324Thr)
c.5885T>C (p.Ile1962Thr)
c.5609T>C (p.Ile1870Thr)
9g.115040997A>TCA374629238TNCc.528T>A
c.3425T>A (p.Ile1142Asn)
c.4247T>A (p.Ile1416Asn)
c.2279T>A (p.Ile760Asn)
c.935T>A (p.Ile312Asn)
c.4294T>A
c.5336T>A (p.Ile1779Asn)
c.4790T>A (p.Ile1597Asn)
c.4517T>A (p.Ile1506Asn)
n.463T>A
n.250T>A
c.1023T>A
c.5063T>A (p.Ile1688Asn)
c.4244T>A (p.Ile1415Asn)
c.3698T>A (p.Ile1233Asn)
c.5612T>A (p.Ile1871Asn)
c.5339T>A (p.Ile1780Asn)
c.4793T>A (p.Ile1598Asn)
c.4520T>A (p.Ile1507Asn)
c.3971T>A (p.Ile1324Asn)
c.5885T>A (p.Ile1962Asn)
c.5609T>A (p.Ile1870Asn)
9g.115040998T>ACA374629240TNCc.527A>T
c.3424A>T (p.Ile1142Phe)
c.4246A>T (p.Ile1416Phe)
c.2278A>T (p.Ile760Phe)
c.934A>T (p.Ile312Phe)
c.4293A>T
c.5335A>T (p.Ile1779Phe)
c.4789A>T (p.Ile1597Phe)
c.4516A>T (p.Ile1506Phe)
n.462A>T
n.249A>T
c.1022A>T
c.5062A>T (p.Ile1688Phe)
c.4243A>T (p.Ile1415Phe)
c.3697A>T (p.Ile1233Phe)
c.5611A>T (p.Ile1871Phe)
c.5338A>T (p.Ile1780Phe)
c.4792A>T (p.Ile1598Phe)
c.4519A>T (p.Ile1507Phe)
c.3970A>T (p.Ile1324Phe)
c.5884A>T (p.Ile1962Phe)
c.5608A>T (p.Ile1870Phe)
9g.115040998T>CCA374629244TNCc.527A>G
c.3424A>G (p.Ile1142Val)
c.4246A>G (p.Ile1416Val)
c.2278A>G (p.Ile760Val)
c.934A>G (p.Ile312Val)
c.4293A>G
c.5335A>G (p.Ile1779Val)
c.4789A>G (p.Ile1597Val)
c.4516A>G (p.Ile1506Val)
n.462A>G
n.249A>G
c.1022A>G
c.5062A>G (p.Ile1688Val)
c.4243A>G (p.Ile1415Val)
c.3697A>G (p.Ile1233Val)
c.5611A>G (p.Ile1871Val)
c.5338A>G (p.Ile1780Val)
c.4792A>G (p.Ile1598Val)
c.4519A>G (p.Ile1507Val)
c.3970A>G (p.Ile1324Val)
c.5884A>G (p.Ile1962Val)
c.5608A>G (p.Ile1870Val)
 dbSNP gnomAD v2 gnomAD v4
9g.115040998T>GCA374629242TNCc.527A>C
c.3424A>C (p.Ile1142Leu)
c.4246A>C (p.Ile1416Leu)
c.2278A>C (p.Ile760Leu)
c.934A>C (p.Ile312Leu)
c.4293A>C
c.5335A>C (p.Ile1779Leu)
c.4789A>C (p.Ile1597Leu)
c.4516A>C (p.Ile1506Leu)
n.462A>C
n.249A>C
c.1022A>C
c.5062A>C (p.Ile1688Leu)
c.4243A>C (p.Ile1415Leu)
c.3697A>C (p.Ile1233Leu)
c.5611A>C (p.Ile1871Leu)
c.5338A>C (p.Ile1780Leu)
c.4792A>C (p.Ile1598Leu)
c.4519A>C (p.Ile1507Leu)
c.3970A>C (p.Ile1324Leu)
c.5884A>C (p.Ile1962Leu)
c.5608A>C (p.Ile1870Leu)
9g.115040998T=CA1874116349TNCc.527A=
c.3424A= (p.Ile1142=)
c.4246A= (p.Ile1416=)
c.2278A= (p.Ile760=)
c.934A= (p.Ile312=)
c.4293A=
c.5335A= (p.Ile1779=)
c.4789A= (p.Ile1597=)
c.4516A= (p.Ile1506=)
n.462A=
n.249A=
c.1022A=
c.5062A= (p.Ile1688=)
c.4243A= (p.Ile1415=)
c.3697A= (p.Ile1233=)
c.5611A= (p.Ile1871=)
c.5338A= (p.Ile1780=)
c.4792A= (p.Ile1598=)
c.4519A= (p.Ile1507=)
c.3970A= (p.Ile1324=)
c.5884A= (p.Ile1962=)
c.5608A= (p.Ile1870=)
9g.115040999G>ACA466790982TNCc.526C>T
c.3423C>T (p.Ser1141=)
c.4245C>T (p.Ser1415=)
c.2277C>T (p.Ser759=)
c.933C>T (p.Ser311=)
c.4292C>T
c.5334C>T (p.Ser1778=)
c.4788C>T (p.Ser1596=)
c.4515C>T (p.Ser1505=)
n.461C>T
n.248C>T
c.1021C>T
c.5061C>T (p.Ser1687=)
c.4242C>T (p.Ser1414=)
c.3696C>T (p.Ser1232=)
c.5610C>T (p.Ser1870=)
c.5337C>T (p.Ser1779=)
c.4791C>T (p.Ser1597=)
c.4518C>T (p.Ser1506=)
c.3969C>T (p.Ser1323=)
c.5883C>T (p.Ser1961=)
c.5607C>T (p.Ser1869=)
9g.115040999G>CCA374629246TNCc.526C>G
c.3423C>G (p.Ser1141Arg)
c.4245C>G (p.Ser1415Arg)
c.2277C>G (p.Ser759Arg)
c.933C>G (p.Ser311Arg)
c.4292C>G
c.5334C>G (p.Ser1778Arg)
c.4788C>G (p.Ser1596Arg)
c.4515C>G (p.Ser1505Arg)
n.461C>G
n.248C>G
c.1021C>G
c.5061C>G (p.Ser1687Arg)
c.4242C>G (p.Ser1414Arg)
c.3696C>G (p.Ser1232Arg)
c.5610C>G (p.Ser1870Arg)
c.5337C>G (p.Ser1779Arg)
c.4791C>G (p.Ser1597Arg)
c.4518C>G (p.Ser1506Arg)
c.3969C>G (p.Ser1323Arg)
c.5883C>G (p.Ser1961Arg)
c.5607C>G (p.Ser1869Arg)
9g.115040999G>TCA374629248TNCc.526C>A
c.3423C>A (p.Ser1141Arg)
c.4245C>A (p.Ser1415Arg)
c.2277C>A (p.Ser759Arg)
c.933C>A (p.Ser311Arg)
c.4292C>A
c.5334C>A (p.Ser1778Arg)
c.4788C>A (p.Ser1596Arg)
c.4515C>A (p.Ser1505Arg)
n.461C>A
n.248C>A
c.1021C>A
c.5061C>A (p.Ser1687Arg)
c.4242C>A (p.Ser1414Arg)
c.3696C>A (p.Ser1232Arg)
c.5610C>A (p.Ser1870Arg)
c.5337C>A (p.Ser1779Arg)
c.4791C>A (p.Ser1597Arg)
c.4518C>A (p.Ser1506Arg)
c.3969C>A (p.Ser1323Arg)
c.5883C>A (p.Ser1961Arg)
c.5607C>A (p.Ser1869Arg)
 gnomAD v4
9g.115041000C>ACA5207686TNCc.525G>T
c.3422G>T (p.Ser1141Ile)
c.4244G>T (p.Ser1415Ile)
c.2276G>T (p.Ser759Ile)
c.932G>T (p.Ser311Ile)
c.4291G>T
c.5333G>T (p.Ser1778Ile)
c.4787G>T (p.Ser1596Ile)
c.4514G>T (p.Ser1505Ile)
n.460G>T
n.247G>T
c.1020G>T
c.5060G>T (p.Ser1687Ile)
c.4241G>T (p.Ser1414Ile)
c.3695G>T (p.Ser1232Ile)
c.5609G>T (p.Ser1870Ile)
c.5336G>T (p.Ser1779Ile)
c.4790G>T (p.Ser1597Ile)
c.4517G>T (p.Ser1506Ile)
c.3968G>T (p.Ser1323Ile)
c.5882G>T (p.Ser1961Ile)
c.5606G>T (p.Ser1869Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.115041000C=CA1874116352TNCc.525G=
c.3422G= (p.Ser1141=)
c.4244G= (p.Ser1415=)
c.2276G= (p.Ser759=)
c.932G= (p.Ser311=)
c.4291G=
c.5333G= (p.Ser1778=)
c.4787G= (p.Ser1596=)
c.4514G= (p.Ser1505=)
n.460G=
n.247G=
c.1020G=
c.5060G= (p.Ser1687=)
c.4241G= (p.Ser1414=)
c.3695G= (p.Ser1232=)
c.5609G= (p.Ser1870=)
c.5336G= (p.Ser1779=)
c.4790G= (p.Ser1597=)
c.4517G= (p.Ser1506=)
c.3968G= (p.Ser1323=)
c.5882G= (p.Ser1961=)
c.5606G= (p.Ser1869=)
9g.115041000C>GCA374629251TNCc.525G>C
c.3422G>C (p.Ser1141Thr)
c.4244G>C (p.Ser1415Thr)
c.2276G>C (p.Ser759Thr)
c.932G>C (p.Ser311Thr)
c.4291G>C
c.5333G>C (p.Ser1778Thr)
c.4787G>C (p.Ser1596Thr)
c.4514G>C (p.Ser1505Thr)
n.460G>C
n.247G>C
c.1020G>C
c.5060G>C (p.Ser1687Thr)
c.4241G>C (p.Ser1414Thr)
c.3695G>C (p.Ser1232Thr)
c.5609G>C (p.Ser1870Thr)
c.5336G>C (p.Ser1779Thr)
c.4790G>C (p.Ser1597Thr)
c.4517G>C (p.Ser1506Thr)
c.3968G>C (p.Ser1323Thr)
c.5882G>C (p.Ser1961Thr)
c.5606G>C (p.Ser1869Thr)
9g.115041000C>TCA374629253TNCc.525G>A
c.3422G>A (p.Ser1141Asn)
c.4244G>A (p.Ser1415Asn)
c.2276G>A (p.Ser759Asn)
c.932G>A (p.Ser311Asn)
c.4291G>A
c.5333G>A (p.Ser1778Asn)
c.4787G>A (p.Ser1596Asn)
c.4514G>A (p.Ser1505Asn)
n.460G>A
n.247G>A
c.1020G>A
c.5060G>A (p.Ser1687Asn)
c.4241G>A (p.Ser1414Asn)
c.3695G>A (p.Ser1232Asn)
c.5609G>A (p.Ser1870Asn)
c.5336G>A (p.Ser1779Asn)
c.4790G>A (p.Ser1597Asn)
c.4517G>A (p.Ser1506Asn)
c.3968G>A (p.Ser1323Asn)
c.5882G>A (p.Ser1961Asn)
c.5606G>A (p.Ser1869Asn)
 dbSNP gnomAD v3 gnomAD v4
9g.115041001T>ACA374629255TNCc.524A>T
c.3421A>T (p.Ser1141Cys)
c.4243A>T (p.Ser1415Cys)
c.2275A>T (p.Ser759Cys)
c.931A>T (p.Ser311Cys)
c.4290A>T
c.5332A>T (p.Ser1778Cys)
c.4786A>T (p.Ser1596Cys)
c.4513A>T (p.Ser1505Cys)
n.459A>T
n.246A>T
c.1019A>T
c.5059A>T (p.Ser1687Cys)
c.4240A>T (p.Ser1414Cys)
c.3694A>T (p.Ser1232Cys)
c.5608A>T (p.Ser1870Cys)
c.5335A>T (p.Ser1779Cys)
c.4789A>T (p.Ser1597Cys)
c.4516A>T (p.Ser1506Cys)
c.3967A>T (p.Ser1323Cys)
c.5881A>T (p.Ser1961Cys)
c.5605A>T (p.Ser1869Cys)
9g.115041001T>CCA374629257TNCc.524A>G
c.3421A>G (p.Ser1141Gly)
c.4243A>G (p.Ser1415Gly)
c.2275A>G (p.Ser759Gly)
c.931A>G (p.Ser311Gly)
c.4290A>G
c.5332A>G (p.Ser1778Gly)
c.4786A>G (p.Ser1596Gly)
c.4513A>G (p.Ser1505Gly)
n.459A>G
n.246A>G
c.1019A>G
c.5059A>G (p.Ser1687Gly)
c.4240A>G (p.Ser1414Gly)
c.3694A>G (p.Ser1232Gly)
c.5608A>G (p.Ser1870Gly)
c.5335A>G (p.Ser1779Gly)
c.4789A>G (p.Ser1597Gly)
c.4516A>G (p.Ser1506Gly)
c.3967A>G (p.Ser1323Gly)
c.5881A>G (p.Ser1961Gly)
c.5605A>G (p.Ser1869Gly)
9g.115041001T>GCA374629259TNCc.524A>C
c.3421A>C (p.Ser1141Arg)
c.4243A>C (p.Ser1415Arg)
c.2275A>C (p.Ser759Arg)
c.931A>C (p.Ser311Arg)
c.4290A>C
c.5332A>C (p.Ser1778Arg)
c.4786A>C (p.Ser1596Arg)
c.4513A>C (p.Ser1505Arg)
n.459A>C
n.246A>C
c.1019A>C
c.5059A>C (p.Ser1687Arg)
c.4240A>C (p.Ser1414Arg)
c.3694A>C (p.Ser1232Arg)
c.5608A>C (p.Ser1870Arg)
c.5335A>C (p.Ser1779Arg)
c.4789A>C (p.Ser1597Arg)
c.4516A>C (p.Ser1506Arg)
c.3967A>C (p.Ser1323Arg)
c.5881A>C (p.Ser1961Arg)
c.5605A>C (p.Ser1869Arg)
9g.115041002G>ACA466790983TNCc.523C>T
c.3420C>T (p.Val1140=)
c.4242C>T (p.Val1414=)
c.2274C>T (p.Val758=)
c.930C>T (p.Val310=)
c.4289C>T
c.5331C>T (p.Val1777=)
c.4785C>T (p.Val1595=)
c.4512C>T (p.Val1504=)
n.458C>T
n.245C>T
c.1018C>T
c.5058C>T (p.Val1686=)
c.4239C>T (p.Val1413=)
c.3693C>T (p.Val1231=)
c.5607C>T (p.Val1869=)
c.5334C>T (p.Val1778=)
c.4788C>T (p.Val1596=)
c.4515C>T (p.Val1505=)
c.3966C>T (p.Val1322=)
c.5880C>T (p.Val1960=)
c.5604C>T (p.Val1868=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
9g.115041002G>CCA466790984TNCc.523C>G
c.3420C>G (p.Val1140=)
c.4242C>G (p.Val1414=)
c.2274C>G (p.Val758=)
c.930C>G (p.Val310=)
c.4289C>G
c.5331C>G (p.Val1777=)
c.4785C>G (p.Val1595=)
c.4512C>G (p.Val1504=)
n.458C>G
n.245C>G
c.1018C>G
c.5058C>G (p.Val1686=)
c.4239C>G (p.Val1413=)
c.3693C>G (p.Val1231=)
c.5607C>G (p.Val1869=)
c.5334C>G (p.Val1778=)
c.4788C>G (p.Val1596=)
c.4515C>G (p.Val1505=)
c.3966C>G (p.Val1322=)
c.5880C>G (p.Val1960=)
c.5604C>G (p.Val1868=)
9g.115041002G=CA1874116330TNCc.523C=
c.3420C= (p.Val1140=)
c.4242C= (p.Val1414=)
c.2274C= (p.Val758=)
c.930C= (p.Val310=)
c.4289C=
c.5331C= (p.Val1777=)
c.4785C= (p.Val1595=)
c.4512C= (p.Val1504=)
n.458C=
n.245C=
c.1018C=
c.5058C= (p.Val1686=)
c.4239C= (p.Val1413=)
c.3693C= (p.Val1231=)
c.5607C= (p.Val1869=)
c.5334C= (p.Val1778=)
c.4788C= (p.Val1596=)
c.4515C= (p.Val1505=)
c.3966C= (p.Val1322=)
c.5880C= (p.Val1960=)
c.5604C= (p.Val1868=)
9g.115041002G>TCA198685264TNCc.523C>A
c.3420C>A (p.Val1140=)
c.4242C>A (p.Val1414=)
c.2274C>A (p.Val758=)
c.930C>A (p.Val310=)
c.4289C>A
c.5331C>A (p.Val1777=)
c.4785C>A (p.Val1595=)
c.4512C>A (p.Val1504=)
n.458C>A
n.245C>A
c.1018C>A
c.5058C>A (p.Val1686=)
c.4239C>A (p.Val1413=)
c.3693C>A (p.Val1231=)
c.5607C>A (p.Val1869=)
c.5334C>A (p.Val1778=)
c.4788C>A (p.Val1596=)
c.4515C>A (p.Val1505=)
c.3966C>A (p.Val1322=)
c.5880C>A (p.Val1960=)
c.5604C>A (p.Val1868=)
 dbSNP gnomAD v4
9g.115041003A>CCA374629263TNCc.522T>G
c.3419T>G (p.Val1140Gly)
c.4241T>G (p.Val1414Gly)
c.2273T>G (p.Val758Gly)
c.929T>G (p.Val310Gly)
c.4288T>G
c.5330T>G (p.Val1777Gly)
c.4784T>G (p.Val1595Gly)
c.4511T>G (p.Val1504Gly)
n.457T>G
n.244T>G
c.1017T>G
c.5057T>G (p.Val1686Gly)
c.4238T>G (p.Val1413Gly)
c.3692T>G (p.Val1231Gly)
c.5606T>G (p.Val1869Gly)
c.5333T>G (p.Val1778Gly)
c.4787T>G (p.Val1596Gly)
c.4514T>G (p.Val1505Gly)
c.3965T>G (p.Val1322Gly)
c.5879T>G (p.Val1960Gly)
c.5603T>G (p.Val1868Gly)
9g.115041003A>GCA374629264TNCc.522T>C
c.3419T>C (p.Val1140Ala)
c.4241T>C (p.Val1414Ala)
c.2273T>C (p.Val758Ala)
c.929T>C (p.Val310Ala)
c.4288T>C
c.5330T>C (p.Val1777Ala)
c.4784T>C (p.Val1595Ala)
c.4511T>C (p.Val1504Ala)
n.457T>C
n.244T>C
c.1017T>C
c.5057T>C (p.Val1686Ala)
c.4238T>C (p.Val1413Ala)
c.3692T>C (p.Val1231Ala)
c.5606T>C (p.Val1869Ala)
c.5333T>C (p.Val1778Ala)
c.4787T>C (p.Val1596Ala)
c.4514T>C (p.Val1505Ala)
c.3965T>C (p.Val1322Ala)
c.5879T>C (p.Val1960Ala)
c.5603T>C (p.Val1868Ala)
 gnomAD v4
9g.115041003A>TCA374629266TNCc.522T>A
c.3419T>A (p.Val1140Asp)
c.4241T>A (p.Val1414Asp)
c.2273T>A (p.Val758Asp)
c.929T>A (p.Val310Asp)
c.4288T>A
c.5330T>A (p.Val1777Asp)
c.4784T>A (p.Val1595Asp)
c.4511T>A (p.Val1504Asp)
n.457T>A
n.244T>A
c.1017T>A
c.5057T>A (p.Val1686Asp)
c.4238T>A (p.Val1413Asp)
c.3692T>A (p.Val1231Asp)
c.5606T>A (p.Val1869Asp)
c.5333T>A (p.Val1778Asp)
c.4787T>A (p.Val1596Asp)
c.4514T>A (p.Val1505Asp)
c.3965T>A (p.Val1322Asp)
c.5879T>A (p.Val1960Asp)
c.5603T>A (p.Val1868Asp)
9g.115041004C>ACA374629268TNCc.521G>T
c.3418G>T (p.Val1140Phe)
c.4240G>T (p.Val1414Phe)
c.2272G>T (p.Val758Phe)
c.928G>T (p.Val310Phe)
c.4287G>T
c.5329G>T (p.Val1777Phe)
c.4783G>T (p.Val1595Phe)
c.4510G>T (p.Val1504Phe)
n.456G>T
n.243G>T
c.1016G>T
c.5056G>T (p.Val1686Phe)
c.4237G>T (p.Val1413Phe)
c.3691G>T (p.Val1231Phe)
c.5605G>T (p.Val1869Phe)
c.5332G>T (p.Val1778Phe)
c.4786G>T (p.Val1596Phe)
c.4513G>T (p.Val1505Phe)
c.3964G>T (p.Val1322Phe)
c.5878G>T (p.Val1960Phe)
c.5602G>T (p.Val1868Phe)
9g.115041004C=CA1874116332TNCc.521G=
c.3418G= (p.Val1140=)
c.4240G= (p.Val1414=)
c.2272G= (p.Val758=)
c.928G= (p.Val310=)
c.4287G=
c.5329G= (p.Val1777=)
c.4783G= (p.Val1595=)
c.4510G= (p.Val1504=)
n.456G=
n.243G=
c.1016G=
c.5056G= (p.Val1686=)
c.4237G= (p.Val1413=)
c.3691G= (p.Val1231=)
c.5605G= (p.Val1869=)
c.5332G= (p.Val1778=)
c.4786G= (p.Val1596=)
c.4513G= (p.Val1505=)
c.3964G= (p.Val1322=)
c.5878G= (p.Val1960=)
c.5602G= (p.Val1868=)
9g.115041004C>GCA374629272TNCc.521G>C
c.3418G>C (p.Val1140Leu)
c.4240G>C (p.Val1414Leu)
c.2272G>C (p.Val758Leu)
c.928G>C (p.Val310Leu)
c.4287G>C
c.5329G>C (p.Val1777Leu)
c.4783G>C (p.Val1595Leu)
c.4510G>C (p.Val1504Leu)
n.456G>C
n.243G>C
c.1016G>C
c.5056G>C (p.Val1686Leu)
c.4237G>C (p.Val1413Leu)
c.3691G>C (p.Val1231Leu)
c.5605G>C (p.Val1869Leu)
c.5332G>C (p.Val1778Leu)
c.4786G>C (p.Val1596Leu)
c.4513G>C (p.Val1505Leu)
c.3964G>C (p.Val1322Leu)
c.5878G>C (p.Val1960Leu)
c.5602G>C (p.Val1868Leu)
9g.115041004C>TCA374629270TNCc.521G>A
c.3418G>A (p.Val1140Ile)
c.4240G>A (p.Val1414Ile)
c.2272G>A (p.Val758Ile)
c.928G>A (p.Val310Ile)
c.4287G>A
c.5329G>A (p.Val1777Ile)
c.4783G>A (p.Val1595Ile)
c.4510G>A (p.Val1504Ile)
n.456G>A
n.243G>A
c.1016G>A
c.5056G>A (p.Val1686Ile)
c.4237G>A (p.Val1413Ile)
c.3691G>A (p.Val1231Ile)
c.5605G>A (p.Val1869Ile)
c.5332G>A (p.Val1778Ile)
c.4786G>A (p.Val1596Ile)
c.4513G>A (p.Val1505Ile)
c.3964G>A (p.Val1322Ile)
c.5878G>A (p.Val1960Ile)
c.5602G>A (p.Val1868Ile)
 dbSNP gnomAD v4
9g.115041005A>CCA466790985TNCc.520T>G
c.3417T>G (p.Leu1139=)
c.4239T>G (p.Leu1413=)
c.2271T>G (p.Leu757=)
c.927T>G (p.Leu309=)
c.4286T>G
c.5328T>G (p.Leu1776=)
c.4782T>G (p.Leu1594=)
c.4509T>G (p.Leu1503=)
n.455T>G
n.242T>G
c.1015T>G
c.5055T>G (p.Leu1685=)
c.4236T>G (p.Leu1412=)
c.3690T>G (p.Leu1230=)
c.5604T>G (p.Leu1868=)
c.5331T>G (p.Leu1777=)
c.4785T>G (p.Leu1595=)
c.4512T>G (p.Leu1504=)
c.3963T>G (p.Leu1321=)
c.5877T>G (p.Leu1959=)
c.5601T>G (p.Leu1867=)
9g.115041005A>GCA466790986TNCc.520T>C
c.3417T>C (p.Leu1139=)
c.4239T>C (p.Leu1413=)
c.2271T>C (p.Leu757=)
c.927T>C (p.Leu309=)
c.4286T>C
c.5328T>C (p.Leu1776=)
c.4782T>C (p.Leu1594=)
c.4509T>C (p.Leu1503=)
n.455T>C
n.242T>C
c.1015T>C
c.5055T>C (p.Leu1685=)
c.4236T>C (p.Leu1412=)
c.3690T>C (p.Leu1230=)
c.5604T>C (p.Leu1868=)
c.5331T>C (p.Leu1777=)
c.4785T>C (p.Leu1595=)
c.4512T>C (p.Leu1504=)
c.3963T>C (p.Leu1321=)
c.5877T>C (p.Leu1959=)
c.5601T>C (p.Leu1867=)
9g.115041005A>TCA466790987TNCc.520T>A
c.3417T>A (p.Leu1139=)
c.4239T>A (p.Leu1413=)
c.2271T>A (p.Leu757=)
c.927T>A (p.Leu309=)
c.4286T>A
c.5328T>A (p.Leu1776=)
c.4782T>A (p.Leu1594=)
c.4509T>A (p.Leu1503=)
n.455T>A
n.242T>A
c.1015T>A
c.5055T>A (p.Leu1685=)
c.4236T>A (p.Leu1412=)
c.3690T>A (p.Leu1230=)
c.5604T>A (p.Leu1868=)
c.5331T>A (p.Leu1777=)
c.4785T>A (p.Leu1595=)
c.4512T>A (p.Leu1504=)
c.3963T>A (p.Leu1321=)
c.5877T>A (p.Leu1959=)
c.5601T>A (p.Leu1867=)
9g.115041006A=CA1874116333TNCc.519T=
c.3416T= (p.Leu1139=)
c.4238T= (p.Leu1413=)
c.2270T= (p.Leu757=)
c.926T= (p.Leu309=)
c.4285T=
c.5327T= (p.Leu1776=)
c.4781T= (p.Leu1594=)
c.4508T= (p.Leu1503=)
n.454T=
n.241T=
c.1014T=
c.5054T= (p.Leu1685=)
c.4235T= (p.Leu1412=)
c.3689T= (p.Leu1230=)
c.5603T= (p.Leu1868=)
c.5330T= (p.Leu1777=)
c.4784T= (p.Leu1595=)
c.4511T= (p.Leu1504=)
c.3962T= (p.Leu1321=)
c.5876T= (p.Leu1959=)
c.5600T= (p.Leu1867=)
9g.115041006A>CCA374629273TNCc.519T>G
c.3416T>G (p.Leu1139Arg)
c.4238T>G (p.Leu1413Arg)
c.2270T>G (p.Leu757Arg)
c.926T>G (p.Leu309Arg)
c.4285T>G
c.5327T>G (p.Leu1776Arg)
c.4781T>G (p.Leu1594Arg)
c.4508T>G (p.Leu1503Arg)
n.454T>G
n.241T>G
c.1014T>G
c.5054T>G (p.Leu1685Arg)
c.4235T>G (p.Leu1412Arg)
c.3689T>G (p.Leu1230Arg)
c.5603T>G (p.Leu1868Arg)
c.5330T>G (p.Leu1777Arg)
c.4784T>G (p.Leu1595Arg)
c.4511T>G (p.Leu1504Arg)
c.3962T>G (p.Leu1321Arg)
c.5876T>G (p.Leu1959Arg)
c.5600T>G (p.Leu1867Arg)
 dbSNP gnomAD v4
9g.115041006A>GCA374629275TNCc.519T>C
c.3416T>C (p.Leu1139Pro)
c.4238T>C (p.Leu1413Pro)
c.2270T>C (p.Leu757Pro)
c.926T>C (p.Leu309Pro)
c.4285T>C
c.5327T>C (p.Leu1776Pro)
c.4781T>C (p.Leu1594Pro)
c.4508T>C (p.Leu1503Pro)
n.454T>C
n.241T>C
c.1014T>C
c.5054T>C (p.Leu1685Pro)
c.4235T>C (p.Leu1412Pro)
c.3689T>C (p.Leu1230Pro)
c.5603T>C (p.Leu1868Pro)
c.5330T>C (p.Leu1777Pro)
c.4784T>C (p.Leu1595Pro)
c.4511T>C (p.Leu1504Pro)
c.3962T>C (p.Leu1321Pro)
c.5876T>C (p.Leu1959Pro)
c.5600T>C (p.Leu1867Pro)
9g.115041006A>TCA374629277TNCc.519T>A
c.3416T>A (p.Leu1139His)
c.4238T>A (p.Leu1413His)
c.2270T>A (p.Leu757His)
c.926T>A (p.Leu309His)
c.4285T>A
c.5327T>A (p.Leu1776His)
c.4781T>A (p.Leu1594His)
c.4508T>A (p.Leu1503His)
n.454T>A
n.241T>A
c.1014T>A
c.5054T>A (p.Leu1685His)
c.4235T>A (p.Leu1412His)
c.3689T>A (p.Leu1230His)
c.5603T>A (p.Leu1868His)
c.5330T>A (p.Leu1777His)
c.4784T>A (p.Leu1595His)
c.4511T>A (p.Leu1504His)
c.3962T>A (p.Leu1321His)
c.5876T>A (p.Leu1959His)
c.5600T>A (p.Leu1867His)
9g.115041007G>ACA374629279TNCc.518C>T
c.3415C>T (p.Leu1139Phe)
c.4237C>T (p.Leu1413Phe)
c.2269C>T (p.Leu757Phe)
c.925C>T (p.Leu309Phe)
c.4284C>T
c.5326C>T (p.Leu1776Phe)
c.4780C>T (p.Leu1594Phe)
c.4507C>T (p.Leu1503Phe)
n.453C>T
n.240C>T
c.1013C>T
c.5053C>T (p.Leu1685Phe)
c.4234C>T (p.Leu1412Phe)
c.3688C>T (p.Leu1230Phe)
c.5602C>T (p.Leu1868Phe)
c.5329C>T (p.Leu1777Phe)
c.4783C>T (p.Leu1595Phe)
c.4510C>T (p.Leu1504Phe)
c.3961C>T (p.Leu1321Phe)
c.5875C>T (p.Leu1959Phe)
c.5599C>T (p.Leu1867Phe)
 gnomAD v4
9g.115041007G>CCA374629281TNCc.518C>G
c.3415C>G (p.Leu1139Val)
c.4237C>G (p.Leu1413Val)
c.2269C>G (p.Leu757Val)
c.925C>G (p.Leu309Val)
c.4284C>G
c.5326C>G (p.Leu1776Val)
c.4780C>G (p.Leu1594Val)
c.4507C>G (p.Leu1503Val)
n.453C>G
n.240C>G
c.1013C>G
c.5053C>G (p.Leu1685Val)
c.4234C>G (p.Leu1412Val)
c.3688C>G (p.Leu1230Val)
c.5602C>G (p.Leu1868Val)
c.5329C>G (p.Leu1777Val)
c.4783C>G (p.Leu1595Val)
c.4510C>G (p.Leu1504Val)
c.3961C>G (p.Leu1321Val)
c.5875C>G (p.Leu1959Val)
c.5599C>G (p.Leu1867Val)
9g.115041007G=CA1874116334TNCc.518C=
c.3415C= (p.Leu1139=)
c.4237C= (p.Leu1413=)
c.2269C= (p.Leu757=)
c.925C= (p.Leu309=)
c.4284C=
c.5326C= (p.Leu1776=)
c.4780C= (p.Leu1594=)
c.4507C= (p.Leu1503=)
n.453C=
n.240C=
c.1013C=
c.5053C= (p.Leu1685=)
c.4234C= (p.Leu1412=)
c.3688C= (p.Leu1230=)
c.5602C= (p.Leu1868=)
c.5329C= (p.Leu1777=)
c.4783C= (p.Leu1595=)
c.4510C= (p.Leu1504=)
c.3961C= (p.Leu1321=)
c.5875C= (p.Leu1959=)
c.5599C= (p.Leu1867=)
9g.115041007G>TCA374629282TNCc.518C>A
c.3415C>A (p.Leu1139Ile)
c.4237C>A (p.Leu1413Ile)
c.2269C>A (p.Leu757Ile)
c.925C>A (p.Leu309Ile)
c.4284C>A
c.5326C>A (p.Leu1776Ile)
c.4780C>A (p.Leu1594Ile)
c.4507C>A (p.Leu1503Ile)
n.453C>A
n.240C>A
c.1013C>A
c.5053C>A (p.Leu1685Ile)
c.4234C>A (p.Leu1412Ile)
c.3688C>A (p.Leu1230Ile)
c.5602C>A (p.Leu1868Ile)
c.5329C>A (p.Leu1777Ile)
c.4783C>A (p.Leu1595Ile)
c.4510C>A (p.Leu1504Ile)
c.3961C>A (p.Leu1321Ile)
c.5875C>A (p.Leu1959Ile)
c.5599C>A (p.Leu1867Ile)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
9g.115041007_115041009delCA2691396745TNCc.516_518del
c.3413_3415del (p.Tyr1138_Leu1139delinsPhe)
c.4235_4237del (p.Tyr1412_Leu1413delinsPhe)
c.2267_2269del (p.Tyr756_Leu757delinsPhe)
c.923_925del (p.Tyr308_Leu309delinsPhe)
c.4282_4284del
c.5324_5326del (p.Tyr1775_Leu1776delinsPhe)
c.4778_4780del (p.Tyr1593_Leu1594delinsPhe)
c.4505_4507del (p.Tyr1502_Leu1503delinsPhe)
n.451_453del
n.238_240del
c.1011_1013del
c.5051_5053del (p.Tyr1684_Leu1685delinsPhe)
c.4232_4234del (p.Tyr1411_Leu1412delinsPhe)
c.3686_3688del (p.Tyr1229_Leu1230delinsPhe)
c.5600_5602del (p.Tyr1867_Leu1868delinsPhe)
c.5327_5329del (p.Tyr1776_Leu1777delinsPhe)
c.4781_4783del (p.Tyr1594_Leu1595delinsPhe)
c.4508_4510del (p.Tyr1503_Leu1504delinsPhe)
c.3959_3961del (p.Tyr1320_Leu1321delinsPhe)
c.5873_5875del (p.Tyr1958_Leu1959delinsPhe)
c.5597_5599del (p.Tyr1866_Leu1867delinsPhe)
 gnomAD v4
9g.115041008G>ACA466790988TNCc.517C>T
c.3414C>T (p.Tyr1138=)
c.4236C>T (p.Tyr1412=)
c.2268C>T (p.Tyr756=)
c.924C>T (p.Tyr308=)
c.4283C>T
c.5325C>T (p.Tyr1775=)
c.4779C>T (p.Tyr1593=)
c.4506C>T (p.Tyr1502=)
n.452C>T
n.239C>T
c.1012C>T
c.5052C>T (p.Tyr1684=)
c.4233C>T (p.Tyr1411=)
c.3687C>T (p.Tyr1229=)
c.5601C>T (p.Tyr1867=)
c.5328C>T (p.Tyr1776=)
c.4782C>T (p.Tyr1594=)
c.4509C>T (p.Tyr1503=)
c.3960C>T (p.Tyr1320=)
c.5874C>T (p.Tyr1958=)
c.5598C>T (p.Tyr1866=)
 gnomAD v4
9g.115041008G>CCA374629287TNCc.517C>G
c.3414C>G (p.Tyr1138Ter)
c.4236C>G (p.Tyr1412Ter)
c.2268C>G (p.Tyr756Ter)
c.924C>G (p.Tyr308Ter)
c.4283C>G
c.5325C>G (p.Tyr1775Ter)
c.4779C>G (p.Tyr1593Ter)
c.4506C>G (p.Tyr1502Ter)
n.452C>G
n.239C>G
c.1012C>G
c.5052C>G (p.Tyr1684Ter)
c.4233C>G (p.Tyr1411Ter)
c.3687C>G (p.Tyr1229Ter)
c.5601C>G (p.Tyr1867Ter)
c.5328C>G (p.Tyr1776Ter)
c.4782C>G (p.Tyr1594Ter)
c.4509C>G (p.Tyr1503Ter)
c.3960C>G (p.Tyr1320Ter)
c.5874C>G (p.Tyr1958Ter)
c.5598C>G (p.Tyr1866Ter)
9g.115041008G=CA1874116335TNCc.517C=
c.3414C= (p.Tyr1138=)
c.4236C= (p.Tyr1412=)
c.2268C= (p.Tyr756=)
c.924C= (p.Tyr308=)
c.4283C=
c.5325C= (p.Tyr1775=)
c.4779C= (p.Tyr1593=)
c.4506C= (p.Tyr1502=)
n.452C=
n.239C=
c.1012C=
c.5052C= (p.Tyr1684=)
c.4233C= (p.Tyr1411=)
c.3687C= (p.Tyr1229=)
c.5601C= (p.Tyr1867=)
c.5328C= (p.Tyr1776=)
c.4782C= (p.Tyr1594=)
c.4509C= (p.Tyr1503=)
c.3960C= (p.Tyr1320=)
c.5874C= (p.Tyr1958=)
c.5598C= (p.Tyr1866=)
9g.115041008G>TCA374629285TNCc.517C>A
c.3414C>A (p.Tyr1138Ter)
c.4236C>A (p.Tyr1412Ter)
c.2268C>A (p.Tyr756Ter)
c.924C>A (p.Tyr308Ter)
c.4283C>A
c.5325C>A (p.Tyr1775Ter)
c.4779C>A (p.Tyr1593Ter)
c.4506C>A (p.Tyr1502Ter)
n.452C>A
n.239C>A
c.1012C>A
c.5052C>A (p.Tyr1684Ter)
c.4233C>A (p.Tyr1411Ter)
c.3687C>A (p.Tyr1229Ter)
c.5601C>A (p.Tyr1867Ter)
c.5328C>A (p.Tyr1776Ter)
c.4782C>A (p.Tyr1594Ter)
c.4509C>A (p.Tyr1503Ter)
c.3960C>A (p.Tyr1320Ter)
c.5874C>A (p.Tyr1958Ter)
c.5598C>A (p.Tyr1866Ter)
 dbSNP gnomAD v3 gnomAD v4
9g.115041009T>ACA374629290TNCc.516A>T
c.3413A>T (p.Tyr1138Phe)
c.4235A>T (p.Tyr1412Phe)
c.2267A>T (p.Tyr756Phe)
c.923A>T (p.Tyr308Phe)
c.4282A>T
c.5324A>T (p.Tyr1775Phe)
c.4778A>T (p.Tyr1593Phe)
c.4505A>T (p.Tyr1502Phe)
n.451A>T
n.238A>T
c.1011A>T
c.5051A>T (p.Tyr1684Phe)
c.4232A>T (p.Tyr1411Phe)
c.3686A>T (p.Tyr1229Phe)
c.5600A>T (p.Tyr1867Phe)
c.5327A>T (p.Tyr1776Phe)
c.4781A>T (p.Tyr1594Phe)
c.4508A>T (p.Tyr1503Phe)
c.3959A>T (p.Tyr1320Phe)
c.5873A>T (p.Tyr1958Phe)
c.5597A>T (p.Tyr1866Phe)
 COSMIC
9g.115041009T>CCA374629292TNCc.516A>G
c.3413A>G (p.Tyr1138Cys)
c.4235A>G (p.Tyr1412Cys)
c.2267A>G (p.Tyr756Cys)
c.923A>G (p.Tyr308Cys)
c.4282A>G
c.5324A>G (p.Tyr1775Cys)
c.4778A>G (p.Tyr1593Cys)
c.4505A>G (p.Tyr1502Cys)
n.451A>G
n.238A>G
c.1011A>G
c.5051A>G (p.Tyr1684Cys)
c.4232A>G (p.Tyr1411Cys)
c.3686A>G (p.Tyr1229Cys)
c.5600A>G (p.Tyr1867Cys)
c.5327A>G (p.Tyr1776Cys)
c.4781A>G (p.Tyr1594Cys)
c.4508A>G (p.Tyr1503Cys)
c.3959A>G (p.Tyr1320Cys)
c.5873A>G (p.Tyr1958Cys)
c.5597A>G (p.Tyr1866Cys)
 dbSNP
9g.115041009T>GCA374629293TNCc.516A>C
c.3413A>C (p.Tyr1138Ser)
c.4235A>C (p.Tyr1412Ser)
c.2267A>C (p.Tyr756Ser)
c.923A>C (p.Tyr308Ser)
c.4282A>C
c.5324A>C (p.Tyr1775Ser)
c.4778A>C (p.Tyr1593Ser)
c.4505A>C (p.Tyr1502Ser)
n.451A>C
n.238A>C
c.1011A>C
c.5051A>C (p.Tyr1684Ser)
c.4232A>C (p.Tyr1411Ser)
c.3686A>C (p.Tyr1229Ser)
c.5600A>C (p.Tyr1867Ser)
c.5327A>C (p.Tyr1776Ser)
c.4781A>C (p.Tyr1594Ser)
c.4508A>C (p.Tyr1503Ser)
c.3959A>C (p.Tyr1320Ser)
c.5873A>C (p.Tyr1958Ser)
c.5597A>C (p.Tyr1866Ser)
 dbSNP gnomAD v2 gnomAD v4
9g.115041009T=CA1874116336TNCc.516A=
c.3413A= (p.Tyr1138=)
c.4235A= (p.Tyr1412=)
c.2267A= (p.Tyr756=)
c.923A= (p.Tyr308=)
c.4282A=
c.5324A= (p.Tyr1775=)
c.4778A= (p.Tyr1593=)
c.4505A= (p.Tyr1502=)
n.451A=
n.238A=
c.1011A=
c.5051A= (p.Tyr1684=)
c.4232A= (p.Tyr1411=)
c.3686A= (p.Tyr1229=)
c.5600A= (p.Tyr1867=)
c.5327A= (p.Tyr1776=)
c.4781A= (p.Tyr1594=)
c.4508A= (p.Tyr1503=)
c.3959A= (p.Tyr1320=)
c.5873A= (p.Tyr1958=)
c.5597A= (p.Tyr1866=)
9g.115041010A>CCA374629296TNCc.515T>G
c.3412T>G (p.Tyr1138Asp)
c.4234T>G (p.Tyr1412Asp)
c.2266T>G (p.Tyr756Asp)
c.922T>G (p.Tyr308Asp)
c.4281T>G
c.5323T>G (p.Tyr1775Asp)
c.4777T>G (p.Tyr1593Asp)
c.4504T>G (p.Tyr1502Asp)
n.450T>G
n.237T>G
c.1010T>G
c.5050T>G (p.Tyr1684Asp)
c.4231T>G (p.Tyr1411Asp)
c.3685T>G (p.Tyr1229Asp)
c.5599T>G (p.Tyr1867Asp)
c.5326T>G (p.Tyr1776Asp)
c.4780T>G (p.Tyr1594Asp)
c.4507T>G (p.Tyr1503Asp)
c.3958T>G (p.Tyr1320Asp)
c.5872T>G (p.Tyr1958Asp)
c.5596T>G (p.Tyr1866Asp)
9g.115041010A>GCA374629297TNCc.515T>C
c.3412T>C (p.Tyr1138His)
c.4234T>C (p.Tyr1412His)
c.2266T>C (p.Tyr756His)
c.922T>C (p.Tyr308His)
c.4281T>C
c.5323T>C (p.Tyr1775His)
c.4777T>C (p.Tyr1593His)
c.4504T>C (p.Tyr1502His)
n.450T>C
n.237T>C
c.1010T>C
c.5050T>C (p.Tyr1684His)
c.4231T>C (p.Tyr1411His)
c.3685T>C (p.Tyr1229His)
c.5599T>C (p.Tyr1867His)
c.5326T>C (p.Tyr1776His)
c.4780T>C (p.Tyr1594His)
c.4507T>C (p.Tyr1503His)
c.3958T>C (p.Tyr1320His)
c.5872T>C (p.Tyr1958His)
c.5596T>C (p.Tyr1866His)
 gnomAD v4
9g.115041010A>TCA374629299TNCc.515T>A
c.3412T>A (p.Tyr1138Asn)
c.4234T>A (p.Tyr1412Asn)
c.2266T>A (p.Tyr756Asn)
c.922T>A (p.Tyr308Asn)
c.4281T>A
c.5323T>A (p.Tyr1775Asn)
c.4777T>A (p.Tyr1593Asn)
c.4504T>A (p.Tyr1502Asn)
n.450T>A
n.237T>A
c.1010T>A
c.5050T>A (p.Tyr1684Asn)
c.4231T>A (p.Tyr1411Asn)
c.3685T>A (p.Tyr1229Asn)
c.5599T>A (p.Tyr1867Asn)
c.5326T>A (p.Tyr1776Asn)
c.4780T>A (p.Tyr1594Asn)
c.4507T>A (p.Tyr1503Asn)
c.3958T>A (p.Tyr1320Asn)
c.5872T>A (p.Tyr1958Asn)
c.5596T>A (p.Tyr1866Asn)
9g.115041011C>ACA374629302TNCc.514G>T
c.3411G>T (p.Glu1137Asp)
c.4233G>T (p.Glu1411Asp)
c.2265G>T (p.Glu755Asp)
c.921G>T (p.Glu307Asp)
c.4280G>T
c.5322G>T (p.Glu1774Asp)
c.4776G>T (p.Glu1592Asp)
c.4503G>T (p.Glu1501Asp)
n.449G>T
n.236G>T
c.1009G>T
c.5049G>T (p.Glu1683Asp)
c.4230G>T (p.Glu1410Asp)
c.3684G>T (p.Glu1228Asp)
c.5598G>T (p.Glu1866Asp)
c.5325G>T (p.Glu1775Asp)
c.4779G>T (p.Glu1593Asp)
c.4506G>T (p.Glu1502Asp)
c.3957G>T (p.Glu1319Asp)
c.5871G>T (p.Glu1957Asp)
c.5595G>T (p.Glu1865Asp)
9g.115041011C=CA1874116337TNCc.514G=
c.3411G= (p.Glu1137=)
c.4233G= (p.Glu1411=)
c.2265G= (p.Glu755=)
c.921G= (p.Glu307=)
c.4280G=
c.5322G= (p.Glu1774=)
c.4776G= (p.Glu1592=)
c.4503G= (p.Glu1501=)
n.449G=
n.236G=
c.1009G=
c.5049G= (p.Glu1683=)
c.4230G= (p.Glu1410=)
c.3684G= (p.Glu1228=)
c.5598G= (p.Glu1866=)
c.5325G= (p.Glu1775=)
c.4779G= (p.Glu1593=)
c.4506G= (p.Glu1502=)
c.3957G= (p.Glu1319=)
c.5871G= (p.Glu1957=)
c.5595G= (p.Glu1865=)
9g.115041011C>GCA5207688TNCc.514G>C
c.3411G>C (p.Glu1137Asp)
c.4233G>C (p.Glu1411Asp)
c.2265G>C (p.Glu755Asp)
c.921G>C (p.Glu307Asp)
c.4280G>C
c.5322G>C (p.Glu1774Asp)
c.4776G>C (p.Glu1592Asp)
c.4503G>C (p.Glu1501Asp)
n.449G>C
n.236G>C
c.1009G>C
c.5049G>C (p.Glu1683Asp)
c.4230G>C (p.Glu1410Asp)
c.3684G>C (p.Glu1228Asp)
c.5598G>C (p.Glu1866Asp)
c.5325G>C (p.Glu1775Asp)
c.4779G>C (p.Glu1593Asp)
c.4506G>C (p.Glu1502Asp)
c.3957G>C (p.Glu1319Asp)
c.5871G>C (p.Glu1957Asp)
c.5595G>C (p.Glu1865Asp)
 dbSNP ExAC
9g.115041011C>TCA5207687TNCc.514G>A
c.3411G>A (p.Glu1137=)
c.4233G>A (p.Glu1411=)
c.2265G>A (p.Glu755=)
c.921G>A (p.Glu307=)
c.4280G>A
c.5322G>A (p.Glu1774=)
c.4776G>A (p.Glu1592=)
c.4503G>A (p.Glu1501=)
n.449G>A
n.236G>A
c.1009G>A
c.5049G>A (p.Glu1683=)
c.4230G>A (p.Glu1410=)
c.3684G>A (p.Glu1228=)
c.5598G>A (p.Glu1866=)
c.5325G>A (p.Glu1775=)
c.4779G>A (p.Glu1593=)
c.4506G>A (p.Glu1502=)
c.3957G>A (p.Glu1319=)
c.5871G>A (p.Glu1957=)
c.5595G>A (p.Glu1865=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.115041012T>ACA374629305TNCc.513A>T
c.3410A>T (p.Glu1137Val)
c.4232A>T (p.Glu1411Val)
c.2264A>T (p.Glu755Val)
c.920A>T (p.Glu307Val)
c.4279A>T
c.5321A>T (p.Glu1774Val)
c.4775A>T (p.Glu1592Val)
c.4502A>T (p.Glu1501Val)
n.448A>T
n.235A>T
c.1008A>T
c.5048A>T (p.Glu1683Val)
c.4229A>T (p.Glu1410Val)
c.3683A>T (p.Glu1228Val)
c.5597A>T (p.Glu1866Val)
c.5324A>T (p.Glu1775Val)
c.4778A>T (p.Glu1593Val)
c.4505A>T (p.Glu1502Val)
c.3956A>T (p.Glu1319Val)
c.5870A>T (p.Glu1957Val)
c.5594A>T (p.Glu1865Val)
9g.115041012T>CCA374629307TNCc.513A>G
c.3410A>G (p.Glu1137Gly)
c.4232A>G (p.Glu1411Gly)
c.2264A>G (p.Glu755Gly)
c.920A>G (p.Glu307Gly)
c.4279A>G
c.5321A>G (p.Glu1774Gly)
c.4775A>G (p.Glu1592Gly)
c.4502A>G (p.Glu1501Gly)
n.448A>G
n.235A>G
c.1008A>G
c.5048A>G (p.Glu1683Gly)
c.4229A>G (p.Glu1410Gly)
c.3683A>G (p.Glu1228Gly)
c.5597A>G (p.Glu1866Gly)
c.5324A>G (p.Glu1775Gly)
c.4778A>G (p.Glu1593Gly)
c.4505A>G (p.Glu1502Gly)
c.3956A>G (p.Glu1319Gly)
c.5870A>G (p.Glu1957Gly)
c.5594A>G (p.Glu1865Gly)
9g.115041012T>GCA374629308TNCc.513A>C
c.3410A>C (p.Glu1137Ala)
c.4232A>C (p.Glu1411Ala)
c.2264A>C (p.Glu755Ala)
c.920A>C (p.Glu307Ala)
c.4279A>C
c.5321A>C (p.Glu1774Ala)
c.4775A>C (p.Glu1592Ala)
c.4502A>C (p.Glu1501Ala)
n.448A>C
n.235A>C
c.1008A>C
c.5048A>C (p.Glu1683Ala)
c.4229A>C (p.Glu1410Ala)
c.3683A>C (p.Glu1228Ala)
c.5597A>C (p.Glu1866Ala)
c.5324A>C (p.Glu1775Ala)
c.4778A>C (p.Glu1593Ala)
c.4505A>C (p.Glu1502Ala)
c.3956A>C (p.Glu1319Ala)
c.5870A>C (p.Glu1957Ala)
c.5594A>C (p.Glu1865Ala)
9g.115041013C>ACA374629310TNCc.512G>T
c.3409G>T (p.Glu1137Ter)
c.4231G>T (p.Glu1411Ter)
c.2263G>T (p.Glu755Ter)
c.919G>T (p.Glu307Ter)
c.4278G>T
c.5320G>T (p.Glu1774Ter)
c.4774G>T (p.Glu1592Ter)
c.4501G>T (p.Glu1501Ter)
n.447G>T
n.234G>T
c.1007G>T
c.5047G>T (p.Glu1683Ter)
c.4228G>T (p.Glu1410Ter)
c.3682G>T (p.Glu1228Ter)
c.5596G>T (p.Glu1866Ter)
c.5323G>T (p.Glu1775Ter)
c.4777G>T (p.Glu1593Ter)
c.4504G>T (p.Glu1502Ter)
c.3955G>T (p.Glu1319Ter)
c.5869G>T (p.Glu1957Ter)
c.5593G>T (p.Glu1865Ter)
9g.115041013C>GCA374629312TNCc.512G>C
c.3409G>C (p.Glu1137Gln)
c.4231G>C (p.Glu1411Gln)
c.2263G>C (p.Glu755Gln)
c.919G>C (p.Glu307Gln)
c.4278G>C
c.5320G>C (p.Glu1774Gln)
c.4774G>C (p.Glu1592Gln)
c.4501G>C (p.Glu1501Gln)
n.447G>C
n.234G>C
c.1007G>C
c.5047G>C (p.Glu1683Gln)
c.4228G>C (p.Glu1410Gln)
c.3682G>C (p.Glu1228Gln)
c.5596G>C (p.Glu1866Gln)
c.5323G>C (p.Glu1775Gln)
c.4777G>C (p.Glu1593Gln)
c.4504G>C (p.Glu1502Gln)
c.3955G>C (p.Glu1319Gln)
c.5869G>C (p.Glu1957Gln)
c.5593G>C (p.Glu1865Gln)
9g.115041013C>TCA374629314TNCc.512G>A
c.3409G>A (p.Glu1137Lys)
c.4231G>A (p.Glu1411Lys)
c.2263G>A (p.Glu755Lys)
c.919G>A (p.Glu307Lys)
c.4278G>A
c.5320G>A (p.Glu1774Lys)
c.4774G>A (p.Glu1592Lys)
c.4501G>A (p.Glu1501Lys)
n.447G>A
n.234G>A
c.1007G>A
c.5047G>A (p.Glu1683Lys)
c.4228G>A (p.Glu1410Lys)
c.3682G>A (p.Glu1228Lys)
c.5596G>A (p.Glu1866Lys)
c.5323G>A (p.Glu1775Lys)
c.4777G>A (p.Glu1593Lys)
c.4504G>A (p.Glu1502Lys)
c.3955G>A (p.Glu1319Lys)
c.5869G>A (p.Glu1957Lys)
c.5593G>A (p.Glu1865Lys)
 COSMIC
9g.115041014C>ACA466790989TNCc.511G>T
c.3408G>T (p.Val1136=)
c.4230G>T (p.Val1410=)
c.2262G>T (p.Val754=)
c.918G>T (p.Val306=)
c.4277G>T
c.5319G>T (p.Val1773=)
c.4773G>T (p.Val1591=)
c.4500G>T (p.Val1500=)
n.446G>T
n.233G>T
c.1006G>T
c.5046G>T (p.Val1682=)
c.4227G>T (p.Val1409=)
c.3681G>T (p.Val1227=)
c.5595G>T (p.Val1865=)
c.5322G>T (p.Val1774=)
c.4776G>T (p.Val1592=)
c.4503G>T (p.Val1501=)
c.3954G>T (p.Val1318=)
c.5868G>T (p.Val1956=)
c.5592G>T (p.Val1864=)
9g.115041014C=CA1874116338TNCc.511G=
c.3408G= (p.Val1136=)
c.4230G= (p.Val1410=)
c.2262G= (p.Val754=)
c.918G= (p.Val306=)
c.4277G=
c.5319G= (p.Val1773=)
c.4773G= (p.Val1591=)
c.4500G= (p.Val1500=)
n.446G=
n.233G=
c.1006G=
c.5046G= (p.Val1682=)
c.4227G= (p.Val1409=)
c.3681G= (p.Val1227=)
c.5595G= (p.Val1865=)
c.5322G= (p.Val1774=)
c.4776G= (p.Val1592=)
c.4503G= (p.Val1501=)
c.3954G= (p.Val1318=)
c.5868G= (p.Val1956=)
c.5592G= (p.Val1864=)
9g.115041014C>GCA466790990TNCc.511G>C
c.3408G>C (p.Val1136=)
c.4230G>C (p.Val1410=)
c.2262G>C (p.Val754=)
c.918G>C (p.Val306=)
c.4277G>C
c.5319G>C (p.Val1773=)
c.4773G>C (p.Val1591=)
c.4500G>C (p.Val1500=)
n.446G>C
n.233G>C
c.1006G>C
c.5046G>C (p.Val1682=)
c.4227G>C (p.Val1409=)
c.3681G>C (p.Val1227=)
c.5595G>C (p.Val1865=)
c.5322G>C (p.Val1774=)
c.4776G>C (p.Val1592=)
c.4503G>C (p.Val1501=)
c.3954G>C (p.Val1318=)
c.5868G>C (p.Val1956=)
c.5592G>C (p.Val1864=)
9g.115041014C>TCA198685269TNCc.511G>A
c.3408G>A (p.Val1136=)
c.4230G>A (p.Val1410=)
c.2262G>A (p.Val754=)
c.918G>A (p.Val306=)
c.4277G>A
c.5319G>A (p.Val1773=)
c.4773G>A (p.Val1591=)
c.4500G>A (p.Val1500=)
n.446G>A
n.233G>A
c.1006G>A
c.5046G>A (p.Val1682=)
c.4227G>A (p.Val1409=)
c.3681G>A (p.Val1227=)
c.5595G>A (p.Val1865=)
c.5322G>A (p.Val1774=)
c.4776G>A (p.Val1592=)
c.4503G>A (p.Val1501=)
c.3954G>A (p.Val1318=)
c.5868G>A (p.Val1956=)
c.5592G>A (p.Val1864=)
 dbSNP
9g.115041015delCA2691396753TNCc.510del
c.3407del (p.Val1136GlyfsTer10)
c.4229del (p.Val1410GlyfsTer10)
c.2261del (p.Val754GlyfsTer10)
c.917del (p.Val306GlyfsTer10)
c.4276del
c.5318del (p.Val1773GlyfsTer10)
c.4772del (p.Val1591GlyfsTer10)
c.4499del (p.Val1500GlyfsTer10)
n.445del
n.232del
c.1005del
c.5045del (p.Val1682GlyfsTer10)
c.4226del (p.Val1409GlyfsTer10)
c.3680del (p.Val1227GlyfsTer10)
c.5594del (p.Val1865GlyfsTer10)
c.5321del (p.Val1774GlyfsTer10)
c.4775del (p.Val1592GlyfsTer10)
c.4502del (p.Val1501GlyfsTer10)
c.3953del (p.Val1318GlyfsTer10)
c.5867del (p.Val1956GlyfsTer10)
c.5591del (p.Val1864GlyfsTer10)
 gnomAD v4
9g.115041015A>CCA374629315TNCc.510T>G
c.3407T>G (p.Val1136Gly)
c.4229T>G (p.Val1410Gly)
c.2261T>G (p.Val754Gly)
c.917T>G (p.Val306Gly)
c.4276T>G
c.5318T>G (p.Val1773Gly)
c.4772T>G (p.Val1591Gly)
c.4499T>G (p.Val1500Gly)
n.445T>G
n.232T>G
c.1005T>G
c.5045T>G (p.Val1682Gly)
c.4226T>G (p.Val1409Gly)
c.3680T>G (p.Val1227Gly)
c.5594T>G (p.Val1865Gly)
c.5321T>G (p.Val1774Gly)
c.4775T>G (p.Val1592Gly)
c.4502T>G (p.Val1501Gly)
c.3953T>G (p.Val1318Gly)
c.5867T>G (p.Val1956Gly)
c.5591T>G (p.Val1864Gly)
9g.115041015A>GCA374629317TNCc.510T>C
c.3407T>C (p.Val1136Ala)
c.4229T>C (p.Val1410Ala)
c.2261T>C (p.Val754Ala)
c.917T>C (p.Val306Ala)
c.4276T>C
c.5318T>C (p.Val1773Ala)
c.4772T>C (p.Val1591Ala)
c.4499T>C (p.Val1500Ala)
n.445T>C
n.232T>C
c.1005T>C
c.5045T>C (p.Val1682Ala)
c.4226T>C (p.Val1409Ala)
c.3680T>C (p.Val1227Ala)
c.5594T>C (p.Val1865Ala)
c.5321T>C (p.Val1774Ala)
c.4775T>C (p.Val1592Ala)
c.4502T>C (p.Val1501Ala)
c.3953T>C (p.Val1318Ala)
c.5867T>C (p.Val1956Ala)
c.5591T>C (p.Val1864Ala)
9g.115041015A>TCA374629319TNCc.510T>A
c.3407T>A (p.Val1136Glu)
c.4229T>A (p.Val1410Glu)
c.2261T>A (p.Val754Glu)
c.917T>A (p.Val306Glu)
c.4276T>A
c.5318T>A (p.Val1773Glu)
c.4772T>A (p.Val1591Glu)
c.4499T>A (p.Val1500Glu)
n.445T>A
n.232T>A
c.1005T>A
c.5045T>A (p.Val1682Glu)
c.4226T>A (p.Val1409Glu)
c.3680T>A (p.Val1227Glu)
c.5594T>A (p.Val1865Glu)
c.5321T>A (p.Val1774Glu)
c.4775T>A (p.Val1592Glu)
c.4502T>A (p.Val1501Glu)
c.3953T>A (p.Val1318Glu)
c.5867T>A (p.Val1956Glu)
c.5591T>A (p.Val1864Glu)
9g.115041016C>ACA374629321TNCc.509G>T
c.3406G>T (p.Val1136Leu)
c.4228G>T (p.Val1410Leu)
c.2260G>T (p.Val754Leu)
c.916G>T (p.Val306Leu)
c.4275G>T
c.5317G>T (p.Val1773Leu)
c.4771G>T (p.Val1591Leu)
c.4498G>T (p.Val1500Leu)
n.444G>T
n.231G>T
c.1004G>T
c.5044G>T (p.Val1682Leu)
c.4225G>T (p.Val1409Leu)
c.3679G>T (p.Val1227Leu)
c.5593G>T (p.Val1865Leu)
c.5320G>T (p.Val1774Leu)
c.4774G>T (p.Val1592Leu)
c.4501G>T (p.Val1501Leu)
c.3952G>T (p.Val1318Leu)
c.5866G>T (p.Val1956Leu)
c.5590G>T (p.Val1864Leu)
9g.115041016C=CA1874116339TNCc.509G=
c.3406G= (p.Val1136=)
c.4228G= (p.Val1410=)
c.2260G= (p.Val754=)
c.916G= (p.Val306=)
c.4275G=
c.5317G= (p.Val1773=)
c.4771G= (p.Val1591=)
c.4498G= (p.Val1500=)
n.444G=
n.231G=
c.1004G=
c.5044G= (p.Val1682=)
c.4225G= (p.Val1409=)
c.3679G= (p.Val1227=)
c.5593G= (p.Val1865=)
c.5320G= (p.Val1774=)
c.4774G= (p.Val1592=)
c.4501G= (p.Val1501=)
c.3952G= (p.Val1318=)
c.5866G= (p.Val1956=)
c.5590G= (p.Val1864=)
9g.115041016C>GCA374629323TNCc.509G>C
c.3406G>C (p.Val1136Leu)
c.4228G>C (p.Val1410Leu)
c.2260G>C (p.Val754Leu)
c.916G>C (p.Val306Leu)
c.4275G>C
c.5317G>C (p.Val1773Leu)
c.4771G>C (p.Val1591Leu)
c.4498G>C (p.Val1500Leu)
n.444G>C
n.231G>C
c.1004G>C
c.5044G>C (p.Val1682Leu)
c.4225G>C (p.Val1409Leu)
c.3679G>C (p.Val1227Leu)
c.5593G>C (p.Val1865Leu)
c.5320G>C (p.Val1774Leu)
c.4774G>C (p.Val1592Leu)
c.4501G>C (p.Val1501Leu)
c.3952G>C (p.Val1318Leu)
c.5866G>C (p.Val1956Leu)
c.5590G>C (p.Val1864Leu)
9g.115041016C>TCA149711TNCc.509G>A
c.3406G>A (p.Val1136Met)
c.4228G>A (p.Val1410Met)
c.2260G>A (p.Val754Met)
c.916G>A (p.Val306Met)
c.4275G>A
c.5317G>A (p.Val1773Met)
c.4771G>A (p.Val1591Met)
c.4498G>A (p.Val1500Met)
n.444G>A
n.231G>A
c.1004G>A
c.5044G>A (p.Val1682Met)
c.4225G>A (p.Val1409Met)
c.3679G>A (p.Val1227Met)
c.5593G>A (p.Val1865Met)
c.5320G>A (p.Val1774Met)
c.4774G>A (p.Val1592Met)
c.4501G>A (p.Val1501Met)
c.3952G>A (p.Val1318Met)
c.5866G>A (p.Val1956Met)
c.5590G>A (p.Val1864Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched